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_P177