Name Chr MapInfo Alleles Transcript(s) Gene(s) In-exon Mutation(s) variant.79571 4 60055 [A/G] NM_182524,NM_001039127 ZNF595,ZNF718 Silent,Silent rs13125929 4 71566 [T/C] NM_182524,NM_001039127 ZNF595,ZNF718 Silent,Silent rs7667153 4 85422 [A/G] NM_182524,NM_001039127 ZNF595,ZNF718 Silent,Silent exm378185 4 86089 [A/G] NM_182524,NM_001039127 ZNF595,ZNF718 EXON Missense_R231K,Silent exm378199 4 86137 [A/G] NM_182524,NM_001039127 ZNF595,ZNF718 EXON Missense_K247R,Silent exm378235 4 86738 [A/G] NM_182524,NM_001039127 ZNF595,ZNF718 EXON Synonymous_G447G,Silent exm378258 4 87277 [G/C] NM_182524,NM_001039127 ZNF595,ZNF718 EXON Missense_G627A,Silent exm378260 4 87300 [A/T] NM_182524,NM_001039127 ZNF595,ZNF718 EXON Missense_T635S,Silent rs7699689 4 127452 [A/G] NM_001039127 ZNF718 Silent rs3829 4 134851 [T/C] NM_001039127 ZNF718 Silent rs6830247 4 150683 [A/G] NM_001039127 ZNF718 Silent exm378292 4 154839 [A/C] NM_001039127 ZNF718 EXON Missense_K122Q exm378296 4 154894 [A/G] NM_001039127 ZNF718 EXON Missense_K140R exm378320 4 155415 [A/G] NM_001039127 ZNF718 EXON Missense_E314K exm378331 4 155655 [C/G] NM_001039127 ZNF718 EXON Missense_P394A exm378333 4 155675 [A/T] NM_001039127 ZNF718 EXON Nonsense_C400X rs12108398 4 171534 [A/G] rs7665922 4 181476 [T/C] rs6817633 4 181832 [A/G] rs7695945 4 221623 [A/C] NR_027481 ZNF876P Silent rs11731285 4 264941 [A/G] NM_001137608 ZNF732 EXON Missense_W568R indel.79576 4 265472 [I/D] NM_001137608 ZNF732 EXON exm378364 4 265547 [A/G] NM_001137608 ZNF732 EXON Missense_C366R newrs61792093 4 265550 [A/G] NM_001137608 ZNF732 EXON Nonsense_Q365X indel.79578 4 265632 [I/D] NM_001137608 ZNF732 EXON indel.79579 4 265730 [D/I] NM_001137608 ZNF732 EXON exm378379 4 265955 [T/C] NM_001137608 ZNF732 EXON Missense_I230V exm378386 4 266147 [T/C] NM_001137608 ZNF732 EXON Missense_K166E exm378388 4 266170 [T/C] NM_001137608 ZNF732 EXON Missense_R158H exm378389 4 266171 [A/G] NM_001137608 ZNF732 EXON Missense_R158C rs11723261 4 282499 [A/G] NM_001137608 ZNF732 Silent exm378391 4 289251 [A/G] NM_001137608 ZNF732 EXON Missense_H67Y exm378393 4 289272 [T/C] NM_001137608 ZNF732 EXON Missense_E60K rs11723803 4 292369 [T/G] rs10034550 4 305291 [A/G] exm378414 4 337587 [A/G] NM_003441 ZNF141 EXON Missense_R7K exm2240926 4 337598 [A/G] NM_003441 ZNF141 EXON Missense_I11V exm378419 4 338129 [A/G] NM_003441 ZNF141 EXON Missense_A46T rs6825544 4 350579 [A/G] NM_003441 ZNF141 Silent exm378449 4 366585 [T/G] NM_003441 ZNF141 EXON Missense_L120W exm378451 4 366596 [A/G] NM_003441 ZNF141 EXON Missense_K124E exm378453 4 366713 [T/C] NM_003441 ZNF141 EXON Missense_R163C exm378455 4 366719 [A/G] NM_003441 ZNF141 EXON Missense_T165A newrs147483014 4 366855 [A/G] NM_003441 ZNF141 EXON Nonsense_W210X exm378471 4 367142 [A/G] NM_003441 ZNF141 EXON Missense_T306A rs11734441 4 374079 [A/C] rs6838825 4 410015 [A/G] rs7695712 4 415311 [A/G] exm378508 4 435522 [T/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_K912E indel.79584 4 435561 [I/D] NR_002451,NM_133474 ABCA11P,ZNF721 EXON indel.79585 4 435600 [I/D] NR_002451,NM_133474 ABCA11P,ZNF721 EXON variant.79586 4 435613 [A/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Nonsense_Y881X indel.79589 4 435741 [I/D] NR_002451,NM_133474 ABCA11P,ZNF721 EXON indel.79590 4 435906 [I/D] NR_002451,NM_133474 ABCA11P,ZNF721 EXON indel.79591 4 436233 [I/D] NR_002451,NM_133474 ABCA11P,ZNF721 EXON exm378546 4 436269 [G/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_L663V exm378547 4 436296 [T/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_T654A exm378549 4 436313 [T/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_K648R exm378550 4 436322 [T/A] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_E645V indel.79592 4 436437 [D/I] NR_002451,NM_133474 ABCA11P,ZNF721 EXON indel.79594 4 437009 [I/D] NR_002451,NM_133474 ABCA11P,ZNF721 EXON exm378593 4 437081 [T/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_E392G exm378596 4 437166 [T/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_E364K indel.79596 4 437253 [I/D] NR_002451,NM_133474 ABCA11P,ZNF721 EXON indel.79597 4 437532 [I/D] NR_002451,NM_133474 ABCA11P,ZNF721 EXON exm378632 4 437720 [T/G] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_N179T exm378647 4 437930 [A/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_F109C exm378651 4 437999 [T/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_R86H exm378654 4 438030 [T/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_T76A exm378657 4 438080 [A/C] NR_002451,NM_133474 ABCA11P,ZNF721 EXON Silent,Missense_C59F rs11944122 4 442021 [T/C] NR_002451,NM_133474 ABCA11P,ZNF721 Silent,Silent rs12186156 4 452106 [T/C] NR_002451,NM_133474 ABCA11P,ZNF721 Silent,Silent rs6810900 4 470866 [T/C] NM_133474 ZNF721 Silent rs9994908 4 492129 [A/G] NM_133474 ZNF721 Silent exm2075464 4 493147 [T/C] NM_133474,NM_001127178,NM_017733 ZNF721,PIGG,PIGG EXON Silent,Missense_F8S,Missense_F8S exm378665 4 493148 [C/G] NM_133474,NM_001127178,NM_017733 ZNF721,PIGG,PIGG EXON Silent,Missense_F8L,Missense_F8L exm378666 4 493156 [T/G] NM_133474,NM_001127178,NM_017733 ZNF721,PIGG,PIGG EXON Silent,Missense_C11F,Missense_C11F exm378672 4 494188 [A/C] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_A53D,Missense_A53D exm378673 4 494194 [A/C] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_S55Y,Missense_S55Y rs17721347 4 498459 [T/C] NM_001127178,NM_017733 PIGG,PIGG Silent,Silent exm378683 4 499568 [T/C] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_A141V,Missense_A141V exm378687 4 501212 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_R197G,Missense_R197G exm378691 4 501347 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_V242M,Missense_V242M variant.79606 4 502624 [T/G] NM_001127178,NM_017733 PIGG,PIGG EXON Nonsense_E256X,Nonsense_E256X newrs148823837 4 502759 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_G301S,Missense_G301S indel.79607 4 502759 [D/I] NM_001127178,NM_017733 PIGG,PIGG EXON rs17164861 4 502911 [T/C] NM_001127178,NM_017733 PIGG,PIGG Silent,Silent exm378706 4 509858 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_S333N,Missense_S333N rs10029104 4 514629 [A/G] NM_001127178,NM_017733 PIGG,PIGG Silent,Silent indel.79610 4 514939 [D/I] NM_001127178,NM_017733 PIGG,PIGG EXON exm378725 4 515456 [T/C] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_T447I,Missense_T439I exm378730 4 515488 [T/C] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_R458C,Missense_R450C exm378731 4 515489 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_R458H,Missense_R450H exm378732 4 515503 [G/C] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_L463V,Missense_L455V exm378735 4 515567 [T/C] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_S484L,Missense_S476L exm378738 4 515631 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Nonsense_W505X,Nonsense_W497X exm378739 4 515636 [T/C] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_A507V,Missense_A499V exm378743 4 515677 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_V521M,Missense_V513M exm378747 4 515707 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_V531M,Missense_V523M exm378751 4 517261 [C/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_P543R,Missense_P535R exm378755 4 517332 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_A567T,Missense_A559T exm378762 4 517461 [T/C] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_C610R,Missense_C602R exm378765 4 517495 [T/C] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_A621V,Missense_A613V exm378772 4 517563 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_E644K,Missense_E636K exm378774 4 517581 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_E650K,Missense_E642K exm378775 4 517600 [T/C] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_A656V,Missense_A648V exm378778 4 517639 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_R669H,Missense_R661H exm378780 4 517686 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_G685S,Missense_G677S exm378783 4 520844 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_E696K,Missense_E688K exm378784 4 520853 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_V699I,Missense_V691I exm2075528 4 520908 [A/C] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_S717Y,Missense_S709Y exm378790 4 520962 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_R735Q,Missense_R727Q exm378792 4 520973 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_G739R,Missense_G731R exm2075532 4 524242 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_R760H,Missense_R752H exm378808 4 524475 [A/G] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_D838N,Missense_D830N exm378810 4 524515 [A/C] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_Q851P,Missense_Q843P exm378816 4 527677 [T/C] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_I881T,Missense_I873T exm378823 4 533001 [T/C] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_F932S,Missense_F924S rs1127410 4 533001 [T/C] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_F932S,Missense_F924S exm2075658 4 533097 [T/C] NM_001127178,NM_017733 PIGG,PIGG EXON Missense_I964T,Missense_I956T rs7655590 4 561631 [A/G] rs10018393 4 575087 [T/G] exm378828 4 619440 [T/C] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_R9W,Missense_R9W exm378829 4 619441 [A/G] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_R9Q,Missense_R9Q exm378832 4 619516 [T/C] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_A34V,Missense_A34V exm378843 4 619560 [T/G] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_D49Y,Missense_D49Y exm378848 4 619635 [T/C] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_R74C,Missense_R74C exm378856 4 619758 [C/G] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_P115A,Missense_P115A rs10029928 4 624897 [A/G] NM_000283,NM_001145291 PDE6B,PDE6B Silent,Silent exm378871 4 628493 [A/G] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_E166K,Missense_E166K exm2076878 4 628589 [A/G] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_G198S,Missense_G198S exm378883 4 629702 [T/C] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_Y219H,Missense_Y219H exm2076910 4 629741 [A/G] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_E232K,Missense_E232K exm378886 4 629753 [A/G] NM_000283,NM_001145291 PDE6B,PDE6B EXON Missense_G236S,Missense_G236S rs10027866 4 644438 [A/G] NM_000283,NM_001145291 PDE6B,PDE6B Silent,Silent exm378897 4 647723 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_R265Q,Missense_R265Q,Silent exm2256676 4 647889 [T/C] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Synonymous_S291S,Synonymous_S291S,Synonymous_S12S exm378909 4 647921 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_G302D,Missense_G302D,Missense_G23D exm378912 4 647942 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_R309Q,Missense_R309Q,Missense_R30Q exm378914 4 648643 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_V320I,Missense_V320I,Missense_V41I exm2077005 4 648652 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_G323S,Missense_G323S,Missense_G44S exm2077066 4 652751 [T/C] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_A471V,Missense_A471V,Missense_A192V exm378964 4 654285 [T/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_F499L,Missense_F499L,Missense_F220L indel.79627 4 654328 [D/I] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON exm378970 4 654380 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_R531Q,Missense_R531Q,Missense_R252Q exm378973 4 655933 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_R542Q,Missense_R542Q,Missense_R263Q newrs146171339 4 657919 [T/C] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Nonsense_Q680X,Nonsense_Q680X,Nonsense_Q401X exm379001 4 657979 [A/T] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_S700T,Missense_S700T,Missense_S421T exm2241164 4 657980 [T/C] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_S700F,Missense_S700F,Missense_S421F rs7436737 4 658089 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B Silent,Silent,Silent exm379019 4 660377 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_D776N,Missense_D776N,Missense_D497N exm379023 4 661663 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_E791K,Missense_E791K,Missense_E512K exm379026 4 661762 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_K824E,Missense_K824E,Missense_K545E exm379027 4 663836 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Synonymous_V835V,Silent,Synonymous_V556V variant.79643 4 663837 [A/G] NM_000283,NM_001145291,NM_001145292 PDE6B,PDE6B,PDE6B EXON Missense_G836S,Silent,Missense_G557S rs4463020 4 666212 [T/G] indel.79645 4 667099 [I/D] NR_033743,NM_007100 ATP5I,ATP5I EXON exm379042 4 667134 [T/G] NR_033743,NM_007100 ATP5I,ATP5I EXON Silent,Missense_K50Q exm379044 4 667173 [T/C] NR_033743,NM_007100 ATP5I,ATP5I EXON Silent,Missense_A37T exm379055 4 668009 [A/G] NR_033743,NM_007100 ATP5I,ATP5I EXON Silent,Missense_L10F exm379068 4 672459 [A/G] NM_002477 MYL5 EXON Missense_T6A exm379071 4 672486 [T/C] NM_002477 MYL5 EXON Missense_R15W exm379078 4 673702 [A/G] NM_002477 MYL5 Silent exm379088 4 673772 [T/C] NM_002477 MYL5 EXON Missense_T86I exm379089 4 673778 [T/C] NM_002477 MYL5 EXON Missense_F88S exm379091 4 673807 [A/G] NM_002477 MYL5 EXON Missense_G98S exm379096-other 4 674299 [T/G] NM_002477 MYL5 EXON Synonymous_G98G exm379096 4 674299 [T/G] NM_002477 MYL5 EXON Synonymous_G98G exm379099 4 674328 [T/C] NM_002477 MYL5 EXON Missense_A108V exm379100 4 674336 [A/C] NM_002477 MYL5 EXON Missense_M111L exm379101 4 674355 [A/C] NM_002477 MYL5 EXON Missense_K117T exm2077274 4 674892 [T/C] NM_002477 MYL5 EXON Missense_L128P exm379105 4 675682 [A/G] NM_002477,NM_032219 MYL5,MFSD7 EXON Missense_V141M,Silent exm379108 4 675710 [T/C] NM_002477,NM_032219 MYL5,MFSD7 EXON Missense_I150T,Silent exm2256686 4 675720 [A/G] NM_002477,NM_032219 MYL5,MFSD7 EXON Synonymous_A153A,Silent exm379117 4 675772 [A/G] NM_002477,NM_032219 MYL5,MFSD7 EXON Missense_K171E,Missense_F552S exm379118 4 675777 [C/G] NM_002477,NM_032219 MYL5,MFSD7 EXON Missense_E172D,Synonymous_S550S exm379136 4 676125 [C/G] NM_032219 MFSD7 EXON Missense_S434R exm379141 4 676617 [A/G] NM_032219 MFSD7 EXON Missense_P405L exm379151 4 677039 [T/C] NM_032219 MFSD7 EXON Missense_V371M exm379152 4 677059 [A/G] NM_032219 MFSD7 EXON Missense_A364V exm379154 4 677132 [C/G] NM_032219 MFSD7 EXON Missense_L340V exm379158 4 677471 [T/C] NM_032219 MFSD7 EXON Missense_R307Q exm379165 4 678283 [G/C] NM_032219 MFSD7 EXON Missense_G277R exm379166 4 678295 [A/G] NM_032219 MFSD7 EXON Missense_L273F exm379186 4 679662 [C/G] NM_032219 MFSD7 EXON Missense_P183A exm379192 4 679896 [T/C] NM_032219 MFSD7 EXON Missense_N164D exm379195 4 680001 [A/G] NM_032219 MFSD7 EXON Missense_L129F rs7690350 4 680843 [A/G] NM_032219 MFSD7 Silent rs9991613 4 681940 [T/C] NM_032219 MFSD7 Silent exm2265658 4 689743 [A/G] rs6837180 4 698292 [A/G] rs4690187 4 703813 [T/C] NM_006315 PCGF3 Silent rs4076064 4 712222 [T/C] NM_006315 PCGF3 Silent rs10034650 4 726322 [A/G] NM_006315 PCGF3 Silent exm379218 4 727522 [A/G] NM_006315 PCGF3 EXON Missense_R18H rs4234853 4 735150 [A/G] NM_006315 PCGF3 Silent exm379249 4 737321 [A/C] NM_006315 PCGF3 EXON Missense_I108L exm379251 4 737366 [T/C] NM_006315 PCGF3 EXON Missense_R123W exm379252 4 737371 [T/C] NM_006315 PCGF3 EXON Synonymous_N124N rs9332466 4 744098 [T/C] NM_006315 PCGF3 Silent rs4690309 4 756377 [T/C] NM_006315 PCGF3 Silent rs6838241 4 756686 [A/C] NM_006315 PCGF3 Silent rs13138362 4 756986 [T/C] NM_006315 PCGF3 Silent rs7340883 4 779077 [T/G] NM_006651 CPLX1 EXON Silent rs2242237 4 779394 [A/G] NM_006651 CPLX1 EXON Silent rs6816868 4 779670 [T/C] NM_006651 CPLX1 EXON Silent rs11722977 4 790757 [A/C] NM_006651 CPLX1 Silent rs7677766 4 795890 [A/G] NM_006651 CPLX1 Silent rs17165034 4 798962 [A/G] NM_006651 CPLX1 Silent rs9328757 4 809593 [A/G] NM_006651 CPLX1 Silent exm2269707 4 809787 [T/C] NM_006651 CPLX1 Silent rs7376690 4 813726 [A/G] NM_006651 CPLX1 Silent rs6832751 4 814080 [A/G] NM_006651 CPLX1 Silent rs936551 4 821490 [A/G] exm379300 4 843498 [A/G] NM_005255 GAK EXON Missense_S1300L exm379302 4 843508 [T/C] NM_005255 GAK EXON Missense_D1297N exm2080762 4 843558 [A/G] NM_005255 GAK EXON Missense_A1280V exm379319 4 843720 [T/C] NM_005255 GAK EXON Missense_K1265R exm379323 4 843765 [A/G] NM_005255 GAK EXON Missense_T1250M exm379330 4 844728 [A/C] NM_005255 GAK EXON Missense_L1218R newrs149731617 4 844776 [A/G] NM_005255 GAK EXON Missense_A1202V exm2256757 4 844834 [A/G] NM_005255 GAK EXON Synonymous_L1183L exm379343 4 845543 [T/C] NM_005255 GAK EXON Missense_S1168N exm379347 4 845568 [C/G] NM_005255 GAK EXON Missense_E1160Q exm379351 4 845648 [A/G] NM_005255 GAK EXON Missense_P1133L exm379354 4 845678 [T/C] NM_005255 GAK EXON Missense_R1123Q exm379355 4 845686 [C/G] NM_005255 GAK EXON Missense_Q1120H exm379356 4 845708 [A/G] NM_005255 GAK EXON Missense_P1113L exm379357 4 845720 [A/G] NM_005255 GAK EXON Missense_T1109M exm-rs1564282 4 852313 [T/C] NM_005255 GAK Silent exm379368 4 853438 [A/G] NM_005255 GAK EXON Missense_P1080L exm379369 4 853444 [T/G] NM_005255 GAK EXON Missense_Q1078P rs4690339 4 854712 [T/C] NM_005255 GAK Silent exm-rs11248051 4 858332 [T/C] NM_005255 GAK Silent exm379374 4 858924 [A/G] NM_005255 GAK EXON Missense_T1051M rs2306248 4 860146 [A/G] NM_005255 GAK Silent exm379387 4 860205 [A/G] NM_005255 GAK EXON Missense_P997L exm2081147 4 860238 [T/C] NM_005255 GAK EXON Missense_N986S exm379390 4 860248 [T/C] NM_005255 GAK EXON Missense_E983K exm379392 4 860298 [A/G] NM_005255 GAK EXON Missense_P966L exm379399 4 860768 [C/G] NM_005255 GAK EXON Missense_P950A exm379415 4 860986 [T/C] NM_005255 GAK EXON Missense_Q877R exm379431 4 861143 [T/C] NM_005255 GAK EXON Missense_E825K exm379432 4 861170 [T/C] NM_005255 GAK EXON Missense_E816K rs2306245 4 862156 [T/C] NM_005255 GAK Silent exm379442 4 862363 [A/C] NM_005255 GAK EXON Missense_D787Y exm379445 4 862366 [T/C] NM_005255 GAK EXON Missense_A786T exm379456 4 864532 [A/G] NM_005255 GAK EXON Missense_R739W exm379458 4 864589 [A/G] NM_005255 GAK EXON Missense_P720S exm379460 4 864597 [T/C] NM_005255 GAK EXON Missense_R717Q exm379467 4 864655 [A/G] NM_005255 GAK EXON Missense_P698S rs755447 4 865227 [A/G] NM_005255 GAK Silent exm379472 4 870891 [T/C] NM_005255 GAK EXON Missense_R654Q exm379476 4 870925 [T/C] NM_005255 GAK EXON Missense_V643I exm2256768 4 870941 [T/C] NM_005255 GAK EXON Synonymous_Q637Q exm379481 4 870955 [G/C] NM_005255 GAK EXON Missense_G633R exm2081314 4 870967 [T/C] NM_005255 GAK EXON Missense_V629M exm379488 4 871452 [T/C] NM_005255 GAK EXON Missense_V603M rs1564280 4 871675 [A/G] NM_005255 GAK Silent rs2279186 4 875887 [A/G] NM_005255 GAK Silent exm379526 4 877125 [T/C] NM_005255 GAK EXON Missense_R461Q exm379528 4 877153 [T/C] NM_005255 GAK EXON Missense_V452I exm379538 4 877843 [T/C] NM_005255 GAK EXON Missense_I413V exm379544 4 882639 [T/C] NM_005255 GAK EXON Missense_A401T exm379552 4 882746 [A/G] NM_005255 GAK EXON Missense_A365V exm379567 4 887276 [A/G] NM_005255 GAK EXON Synonymous_R293R exm379570 4 887698 [A/G] NM_005255 GAK EXON Missense_H281Y rs11726508 4 888937 [T/C] NM_005255 GAK Silent newrs149963126 4 890248 [T/C] NM_005255 GAK EXON Nonsense_W247X rs3755963 4 894255 [A/G] NM_005255 GAK Silent exm379592 4 898459 [T/C] NM_005255 GAK EXON Missense_R164Q exm379601 4 905524 [T/C] NM_005255 GAK EXON Missense_I107V rs754758 4 924280 [A/C] NM_005255 GAK Silent exm-rs6599389 4 939113 [A/G] NM_032326 TMEM175 Silent rs7687129 4 939883 [T/C] NM_032326 TMEM175 Silent rs6815138 4 941290 [A/C] NM_032326 TMEM175 Silent exm379625 4 941940 [C/G] NM_032326 TMEM175 EXON Missense_Q64E rs2290403 4 942006 [A/G] NM_032326 TMEM175 Silent exm379630 4 944210 [A/C] NM_032326 TMEM175 EXON Missense_Q65P exm379632 4 944249 [T/C] NM_032326 TMEM175 EXON Missense_I78T exm379634 4 944260 [G/C] NM_032326 TMEM175 EXON Missense_L82V exm379636 4 944278 [A/G] NM_032326 TMEM175 EXON Missense_V88M exm379639 4 945042 [A/C] NM_032326 TMEM175 EXON Missense_N113T variant.79679 4 945047 [T/G] NM_032326 TMEM175 Silent exm379648 4 946221 [A/G] NM_032326 TMEM175 EXON Missense_A149T exm379651 4 946233 [A/G] NM_032326 TMEM175 EXON Missense_V153M exm379658 4 947024 [T/C] NM_032326 TMEM175 EXON Missense_P170L exm379659 4 947035 [T/C] NM_032326 TMEM175 EXON Missense_R174C exm379666 4 949214 [A/G] NM_032326 TMEM175 EXON Missense_V217I exm379668 4 949223 [T/C] NM_032326 TMEM175 EXON Missense_L220F exm379669 4 949230 [A/G] NM_032326 TMEM175 EXON Missense_Y222C exm379682 4 951619 [A/G] NM_032326 TMEM175 EXON Missense_N284D exm379683 4 951622 [A/G] NM_032326 TMEM175 EXON Missense_V285I exm379684 4 951623 [T/C] NM_032326 TMEM175 EXON Missense_V285A exm379688 4 951667 [A/G] NM_032326 TMEM175 EXON Missense_V300M exm379691 4 951682 [A/G] NM_032326 TMEM175 EXON Missense_A305T exm379693 4 951688 [A/G] NM_032326 TMEM175 EXON Missense_G307R exm379697 4 951721 [A/G] NM_032326 TMEM175 EXON Missense_A318T exm379699 4 951746 [C/G] NM_032326 TMEM175 EXON Missense_A326G exm379701 4 951773 [A/G] NM_032326 TMEM175 EXON Missense_R335H exm379713 4 951880 [T/G] NM_032326 TMEM175 EXON Missense_D371Y exm379723 4 951982 [G/C] NM_032326 TMEM175 EXON Missense_L405V exm379726 4 952009 [T/C] NM_032326 TMEM175 EXON Missense_R414W rs4690326 4 953698 [A/C] NM_001347 DGKQ EXON Silent exm379754 4 954422 [T/C] NM_001347 DGKQ EXON Missense_S939G exm379762 4 954881 [C/G] NM_001347 DGKQ EXON Missense_V895L exm379765 4 954907 [A/G] NM_001347 DGKQ EXON Missense_P886L exm379775 4 955263 [T/C] NM_001347 DGKQ EXON Missense_V856M exm379803 4 956237 [T/C] NM_001347 DGKQ EXON Missense_A734T exm379811 4 956280 [T/C] NM_001347 DGKQ EXON Synonymous_L719L exm2256798 4 956280 [T/C] NM_001347 DGKQ EXON Synonymous_L719L exm2082523 4 956339 [C/G] NM_001347 DGKQ EXON Missense_V700L exm379816 4 956368 [A/G] NM_001347 DGKQ EXON Missense_A690V exm379826 4 956707 [A/G] NM_001347 DGKQ EXON Missense_L630F exm379836 4 958972 [T/C] NM_001347 DGKQ EXON Missense_D576N exm379838 4 959002 [A/C] NM_001347 DGKQ EXON Missense_G566C exm2241466 4 959764 [A/G] NM_001347 DGKQ EXON Missense_S511P exm379859 4 959770 [T/C] NM_001347 DGKQ EXON Missense_G509S exm379864 4 959830 [T/C] NM_001347 DGKQ EXON Missense_V489M rs4690324 4 960081 [A/G] NM_001347 DGKQ Silent exm379881 4 960553 [A/G] NM_001347 DGKQ EXON Missense_A450V exm379883 4 960590 [T/C] NM_001347 DGKQ EXON Missense_A438T exm2256799 4 960794 [A/G] NM_001347 DGKQ EXON Synonymous_A423A exm379895 4 960996 [T/C] NM_001347 DGKQ EXON Missense_E381K exm379901 4 961122 [T/G] NM_001347 DGKQ EXON Missense_P339T exm379906 4 961362 [T/C] NM_001347 DGKQ EXON Missense_R321H exm379927 4 962141 [C/G] NM_001347 DGKQ EXON Missense_E198Q exm379937 4 962613 [A/G] NM_001347 DGKQ EXON Missense_A146V exm-rs11248060 4 964359 [T/C] NM_001347 DGKQ Silent rs11724804 4 965779 [A/G] NM_001347 DGKQ Silent variant.79691 4 973244 [A/G] NM_134425 SLC26A1 EXON Nonsense_Q209X exm379966 4 981602 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Missense_P55L,Silent,Silent exm379968 4 981646 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Nonsense_Q70X,Silent,Silent exm379970 4 981673 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Missense_A79T,Silent,Silent exm379972 4 981684 [C/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Missense_H82Q,Silent,Silent exm379977 4 981734 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Missense_T99I,Silent,Silent exm379978 4 981736 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Missense_R100G,Silent,Silent exm2082702 4 982718 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_T670M,Missense_T670M exm379989 4 982725 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_G668R,Missense_G668R exm379995 4 982821 [A/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_D636Y,Missense_D636Y exm2241478 4 982826 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_R634H,Missense_R634H exm2082712 4 983042 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_T562M,Missense_T562M exm2082715 4 983115 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_R538W,Missense_R538W exm380032 4 983394 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_V445I,Missense_V445I exm380036 4 983441 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_A429V,Missense_A429V exm380045 4 983574 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_V385M,Missense_V385M exm380047 4 983612 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_R372H,Missense_R372H exm380049 4 983625 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_G368S,Missense_G368S exm380051 4 983654 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_S358L,Missense_S358L exm380055 4 983684 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_L348P,Missense_L348P exm380056 4 983723 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_P335L,Missense_P335L exm380061 4 983786 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_R314H,Missense_R314H exm2082726 4 983859 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_V290M,Missense_V290M exm380065 4 983868 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_R287C,Missense_R287C exm380067 4 983898 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_A277T,Missense_A277T exm380077 4 984014 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Silent,Silent,Missense_R238Q,Missense_R238Q exm380091 4 984938 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_T185M,Silent,Missense_T185M,Missense_T185M exm380092 4 984948 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_T182A,Silent,Missense_T182A,Missense_T182A exm380105 4 985076 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_R139Q,Silent,Missense_R139Q,Missense_R139Q exm380107 4 985092 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_G134R,Silent,Missense_G134R,Missense_G134R exm380125 4 985275 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_V73I,Silent,Missense_V73I,Missense_V73I exm380127 4 985295 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_R66Q,Silent,Missense_R66Q,Missense_R66Q exm380128 4 985296 [A/G] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_R66W,Silent,Missense_R66W,Missense_R66W exm380130 4 985310 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_R61H,Silent,Missense_R61H,Missense_R61H exm380143 4 985418 [T/C] NM_134425,NM_000203,NM_022042,NM_213613 SLC26A1,IDUA,SLC26A1,SLC26A1 EXON Missense_R25Q,Silent,Missense_R25Q,Missense_R25Q exm380152 4 994414 [A/G] NM_000203 IDUA EXON Missense_R105Q exm380153 4 994446 [A/G] NM_000203 IDUA EXON Missense_G116R exm2256813 4 994452 [T/C] NM_000203 IDUA EXON Synonymous_L118L exm380167 4 995256 [A/G] NM_000203 IDUA EXON Missense_G165D rs6815946 4 995305 [T/C] NM_000203 IDUA EXON Synonymous_N181N exm380181 4 995578 [C/G] NM_000203 IDUA EXON Missense_S234T exm380182 4 995586 [T/C] NM_000203 IDUA EXON Missense_L237F exm380192 4 995664 [A/T] NM_000203 IDUA EXON Missense_R263W exm380193 4 995783 [C/G] NM_000203 IDUA EXON Missense_S269C exm380200 4 995942 [A/T] NM_000203 IDUA EXON Missense_V322E exm380211 4 996165 [A/G] NM_000203 IDUA EXON Missense_A361T exm380218 4 996535 [A/G] NM_000203 IDUA EXON Nonsense_W402X exm380246 4 997829 [T/C] NM_000203 IDUA EXON Missense_S586F exm380247 4 997837 [A/G] NM_000203 IDUA EXON Missense_G589S exm380255 4 998080 [C/G] NM_000203 IDUA EXON Missense_R621G rs6855233 4 1002125 [T/C] rs11734750 4 1006924 [T/C] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 Silent,Silent,Silent exm380282 4 1016197 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_V96M,Missense_V96M,Missense_V96M exm380295 4 1017613 [T/C] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_R148C,Missense_R148C,Missense_R148C exm2062670 4 1017712 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_D181N,Missense_D181N,Missense_D181N exm380303 4 1017749 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_R193H,Missense_R193H,Missense_R193H exm2256247 4 1017759 [T/C] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Synonymous_A196A,Synonymous_A196A,Synonymous_A196A exm380305 4 1017829 [A/C] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_T220P,Missense_T220P,Missense_T220P exm2256248 4 1018208 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Synonymous_P276P,Synonymous_P276P,Synonymous_P276P exm380320 4 1018245 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_E289K,Missense_E289K,Missense_E289K exm380333 4 1018360 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_R327H,Missense_R327H,Missense_R327H exm380334 4 1018362 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_A328T,Missense_A328T,Missense_A328T exm380347 4 1018705 [A/C] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_P362Q,Missense_P362Q,Missense_P362Q exm380359 4 1018779 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_A387T,Missense_A387T,Missense_A387T exm380371 4 1018902 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_G428R,Missense_G428R,Missense_G428R exm2062688 4 1019011 [T/C] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_P464L,Missense_P464L,Missense_P464L exm380390 4 1019077 [C/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_S486C,Missense_S486C,Missense_S486C exm2062689 4 1019094 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_V492M,Missense_V492M,Missense_V492M exm380392 4 1019101 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Missense_G494D,Missense_G494D,Missense_G494D rs4647939 4 1019312 [A/G] NM_001004356,NM_001004358,NM_021923 FGFRL1,FGFRL1,FGFRL1 EXON Silent,Silent,Silent rs935973 4 1024287 [T/C] rs11722658 4 1024752 [T/C] rs935971 4 1045265 [A/G] rs4690213 4 1054868 [T/C] rs11732259 4 1064557 [A/G] exm380397 4 1066769 [T/C] NM_001131034,NM_194439 RNF212,RNF212 EXON Missense_V263I,Silent exm380399 4 1066814 [T/C] NM_001131034,NM_194439 RNF212,RNF212 EXON Missense_T248A,Missense_H230R exm380400 4 1066818 [T/C] NM_001131034,NM_194439 RNF212,RNF212 EXON Synonymous_E246E,Missense_T229A exm2273994 4 1066824 [A/G] NM_001131034,NM_194439 RNF212,RNF212 EXON Synonymous_H244H,Missense_R227W exm380406 4 1066958 [A/C] NM_001131034,NM_194439 RNF212,RNF212 EXON Missense_C200G,Silent rs1466216 4 1071907 [A/G] NM_001131034,NM_194439 RNF212,RNF212 Silent,Silent exm380414 4 1073459 [A/C] NM_001131034,NM_194439 RNF212,RNF212 EXON Missense_V161G,Missense_V161G rs11732520 4 1074009 [T/C] NM_001131034,NM_194439 RNF212,RNF212 Silent,Silent exm380418 4 1075216 [G/C] NM_001131034,NM_194439 RNF212,RNF212 EXON Missense_A152G,Missense_A152G exm2256267 4 1075245 [A/G] NM_001131034,NM_194439 RNF212,RNF212 EXON Synonymous_H142H,Synonymous_H142H exm380424 4 1075407 [A/C] NM_001131034,NM_194439 RNF212,RNF212 EXON Missense_S121R,Missense_S121R exm-rs1670533 4 1078187 [A/G] NM_001131034,NM_194439 RNF212,RNF212 Silent,Silent exm380428 4 1087265 [T/C] NM_001131034,NM_194439,NM_001193318 RNF212,RNF212,RNF212 EXON Silent,Silent,Missense_I262V exm380434 4 1087393 [T/G] NM_001131034,NM_194439,NM_001193318 RNF212,RNF212,RNF212 EXON Silent,Silent,Missense_A219D exm380436 4 1087487 [A/G] NM_001131034,NM_194439,NM_001193318 RNF212,RNF212,RNF212 EXON Silent,Silent,Nonsense_Q188X exm380439 4 1087531 [T/C] NM_001131034,NM_194439,NM_001193318 RNF212,RNF212,RNF212 EXON Silent,Silent,Missense_Q173R exm380441 4 1087772 [A/G] NM_001131034,NM_194439,NM_001193318 RNF212,RNF212,RNF212 EXON Silent,Silent,Missense_L93F exm380448 4 1090592 [T/C] NM_001131034,NM_194439,NM_001193318 RNF212,RNF212,RNF212 EXON Missense_I69M,Missense_I69M,Missense_I69M exm380451 4 1090624 [T/C] NM_001131034,NM_194439,NM_001193318 RNF212,RNF212,RNF212 EXON Missense_D59N,Missense_D59N,Missense_D59N rs4045481 4 1090625 [A/G] NM_001131034,NM_194439,NM_001193318 RNF212,RNF212,RNF212 EXON Synonymous_T58T,Synonymous_T58T,Synonymous_T58T rs7686048 4 1094123 [T/C] NM_001131034,NM_194439,NM_001193318 RNF212,RNF212,RNF212 Silent,Silent,Silent exm-rs3796619 4 1095281 [A/G] NM_001131034,NM_194439,NM_001193318 RNF212,RNF212,RNF212 Silent,Silent,Silent exm380456 4 1102173 [A/C] NM_001131034,NM_194439,NM_001193318 RNF212,RNF212,RNF212 EXON Missense_L43F,Missense_L43F,Missense_L43F exm380458 4 1107149 [C/G] NM_001131034,NM_194439,NM_001193318 RNF212,RNF212,RNF212 EXON Missense_G35A,Missense_G35A,Missense_G35A exm380464 4 1107245 [T/C] NM_001131034,NM_194439,NM_001193318 RNF212,RNF212,RNF212 EXON Missense_N3S,Missense_N3S,Missense_N3S rs7671502 4 1127010 [A/G] exm2265814 4 1135350 [A/G] rs11937228 4 1147407 [A/G] rs10013662 4 1157140 [T/C] rs10002437 4 1157776 [T/C] rs7669287 4 1159680 [A/G] exm380498 4 1164219 [T/C] NM_001199021,NM_001128325,NM_012445 SPON2,SPON2,SPON2 EXON Missense_R261K,Missense_R261K,Missense_R261K exm380501 4 1164277 [C/G] NM_001199021,NM_001128325,NM_012445 SPON2,SPON2,SPON2 EXON Missense_V242L,Missense_V242L,Missense_V242L exm380507 4 1164318 [A/G] NM_001199021,NM_001128325,NM_012445 SPON2,SPON2,SPON2 EXON Missense_P228L,Missense_P228L,Missense_P228L exm380512 4 1164864 [A/G] NM_001199021,NM_001128325,NM_012445 SPON2,SPON2,SPON2 EXON Missense_Y187H,Missense_Y187H,Missense_Y187H rs11247975 4 1165130 [T/G] NM_001199021,NM_001128325,NM_012445 SPON2,SPON2,SPON2 EXON Missense_A122E,Missense_A122E,Missense_A122E exm380523 4 1165174 [T/C] NM_001199021,NM_001128325,NM_012445 SPON2,SPON2,SPON2 EXON Missense_M107I,Missense_M107I,Missense_M107I exm380527 4 1165238 [T/C] NM_001199021,NM_001128325,NM_012445 SPON2,SPON2,SPON2 EXON Missense_K86R,Missense_K86R,Missense_K86R rs2242278 4 1165516 [A/G] NM_001199021,NM_001128325,NM_012445 SPON2,SPON2,SPON2 Silent,Silent,Silent exm380538 4 1165741 [A/G] NM_001199021,NM_001128325,NM_012445 SPON2,SPON2,SPON2 EXON Missense_L40P,Missense_L40P,Missense_L40P exm380539 4 1165748 [T/C] NM_001199021,NM_001128325,NM_012445 SPON2,SPON2,SPON2 EXON Missense_R38G,Missense_R38G,Missense_R38G rs1272043 4 1190518 [A/G] NM_001199021,NR_024569 SPON2,LOC100130872 EXON Silent,Silent rs1250125 4 1192243 [A/G] NM_001199021,NR_024569 SPON2,LOC100130872 EXON Silent,Silent rs1250105 4 1203265 [T/C] exm380549 4 1206089 [A/G] NM_001012614,NM_001328 CTBP1,CTBP1 EXON Missense_P410L,Missense_P421L exm380559 4 1206732 [A/C] NM_001012614,NM_001328 CTBP1,CTBP1 EXON Missense_V359L,Missense_V370L rs1250116 4 1224587 [T/C] NM_001012614,NM_001328 CTBP1,CTBP1 Silent,Silent rs1250114 4 1224648 [A/G] NM_001012614,NM_001328 CTBP1,CTBP1 Silent,Silent rs4974574 4 1224811 [A/G] NM_001012614,NM_001328 CTBP1,CTBP1 Silent,Silent rs3755931 4 1236840 [T/C] NM_001012614,NM_001328 CTBP1,CTBP1 Silent,Silent rs1680032 4 1243573 [T/C] NR_033339 CTBP1-AS1 Silent indel.79727 4 1244522 [D/I] NR_033339 CTBP1-AS1 EXON variant.79728 4 1244537 [A/C] NR_033339 CTBP1-AS1 EXON Silent rs1564508 4 1244879 [A/G] NR_033339 CTBP1-AS1 EXON Silent rs7656416 4 1254535 [T/C] rs1680083 4 1278775 [A/G] rs11727167 4 1285521 [A/G] NM_005882,NM_001017405 MAEA,MAEA Silent,Silent rs7695691 4 1304632 [A/G] NM_005882,NM_001017405 MAEA,MAEA Silent,Silent rs6818213 4 1305962 [T/C] NM_005882,NM_001017405 MAEA,MAEA Silent,Silent indel.79733 4 1305994 [D/I] NM_005882,NM_001017405 MAEA,MAEA rs6815464 4 1309901 [C/G] NM_005882,NM_001017405 MAEA,MAEA Silent,Silent rs11933855 4 1315183 [A/G] NM_005882,NM_001017405 MAEA,MAEA Silent,Silent exm380697 4 1316230 [A/G] NM_005882,NM_001017405 MAEA,MAEA EXON Silent,Missense_R173H rs28429103 4 1320023 [A/G] NM_005882,NM_001017405 MAEA,MAEA Silent,Silent variant.79734 4 1326590 [T/C] NM_005882,NM_001017405 MAEA,MAEA EXON Synonymous_D193D,Synonymous_D234D rs13117476 4 1334721 [T/C] rs12647145 4 1338618 [A/C] rs7671242 4 1339875 [A/G] exm380735 4 1341896 [T/C] NM_020894 UVSSA EXON Missense_S6L exm380737 4 1341934 [T/C] NM_020894 UVSSA EXON Nonsense_R19X exm380738 4 1341935 [A/G] NM_020894 UVSSA EXON Missense_R19Q exm380740 4 1343314 [T/C] NM_020894 UVSSA EXON Missense_S34F exm380743 4 1343341 [A/G] NM_020894 UVSSA EXON Missense_Y43C exm380751 4 1343418 [T/G] NM_020894 UVSSA EXON Missense_F69V exm380762 4 1343547 [A/G] NM_020894 UVSSA EXON Missense_A112T exm380764 4 1343556 [T/C] NM_020894 UVSSA EXON Missense_R115W exm380773 4 1345557 [A/G] NM_020894 UVSSA EXON Missense_E162K exm380781 4 1346848 [T/C] NM_020894 UVSSA EXON Missense_T194M exm380784 4 1346880 [A/C] NM_020894 UVSSA EXON Missense_P205T exm380789 4 1346908 [T/C] NM_020894 UVSSA EXON Missense_T214M exm380796 4 1346974 [C/G] NM_020894 UVSSA EXON Missense_G236A exm380798 4 1347003 [T/C] NM_020894 UVSSA EXON Missense_R246W exm2066015 4 1347004 [A/G] NM_020894 UVSSA EXON Missense_R246Q exm380807 4 1347135 [A/G] NM_020894 UVSSA EXON Missense_E290K exm380808 4 1347144 [A/G] NM_020894 UVSSA EXON Missense_V293M exm2066022 4 1348573 [T/G] NM_020894 UVSSA EXON Missense_A329S exm380819 4 1348576 [T/C] NM_020894 UVSSA EXON Missense_R330C exm380820 4 1348577 [A/G] NM_020894 UVSSA EXON Missense_R330H exm380824 4 1348597 [T/C] NM_020894 UVSSA EXON Missense_R337W exm380829 4 1348622 [T/G] NM_020894 UVSSA EXON Missense_C345F exm380834 4 1348920 [A/G] NM_020894 UVSSA EXON Missense_G355R exm380839 4 1348987 [A/G] NM_020894 UVSSA EXON Missense_K377R exm380841 4 1349029 [A/G] NM_020894 UVSSA EXON Missense_R391H rs3806754 4 1350186 [A/G] NM_020894 UVSSA Silent exm380849 4 1360207 [T/C] NM_020894 UVSSA EXON Missense_R426W exm-rs13118159 4 1365127 [T/C] NM_020894 UVSSA Silent exm380854 4 1369196 [T/C] NM_020894 UVSSA EXON Missense_R445W exm380855 4 1369206 [T/C] NM_020894 UVSSA EXON Missense_T448M exm380857 4 1369224 [T/G] NM_020894 UVSSA EXON Missense_V454G exm380874 4 1369892 [A/G] NM_020894 UVSSA EXON Missense_V502M exm380881 4 1373896 [A/G] NM_020894 UVSSA EXON Missense_D544N exm380882 4 1373914 [T/C] NM_020894 UVSSA EXON Missense_R550W exm380894 4 1374714 [T/C] NM_020894 UVSSA EXON Missense_P600L exm380895 4 1374723 [T/C] NM_020894 UVSSA EXON Missense_P603L exm380897 4 1374737 [T/C] NM_020894 UVSSA EXON Missense_R608C exm380901 4 1374774 [T/C] NM_020894 UVSSA EXON Missense_P620L variant.79745 4 1377559 [T/C] NM_020894 UVSSA EXON Nonsense_Q623X exm380918 4 1377724 [A/G] NM_020894 UVSSA EXON Missense_A678T exm380922 4 1379681 [A/G] NM_020894 UVSSA EXON Missense_A688T exm380925 4 1379691 [A/G] NM_020894 UVSSA EXON Missense_R691Q variant.79748 4 1379726 [T/C] NM_020894 UVSSA EXON Nonsense_Q703X rs4974559 4 1380848 [A/G] NM_020894 UVSSA EXON Silent exm380931 4 1388324 [A/C] NM_175918 CRIPAK EXON Missense_N9H exm380984 4 1388615 [T/C] NM_175918 CRIPAK EXON Missense_R106C exm381178 4 1389482 [A/G] NM_175918 CRIPAK EXON Missense_A395T exm381189 4 1389557 [A/G] NM_175918 CRIPAK EXON Missense_V420I exm381193 4 1389588 [A/G] NM_175918 CRIPAK EXON Missense_R430H rs4974620 4 1394016 [A/G] rs6814036 4 1415698 [T/C] kgp7894559 4 1416607 [T/C] rs4419429 4 1416863 [T/C] rs12647020 4 1507198 [A/G] rs11947258 4 1519322 [T/C] exm2265659 4 1535004 [A/G] rs4307023 4 1539392 [A/G] rs6828710 4 1544693 [T/C] rs10050053 4 1563920 [T/C] rs4374681 4 1566164 [T/C] rs4865424 4 1568595 [T/G] rs4073272 4 1573364 [T/C] rs6833307 4 1586036 [T/C] rs6858080 4 1610872 [T/C] rs3936194 4 1619530 [A/G] rs2166582 4 1631795 [T/C] rs11942233 4 1634506 [T/C] rs7667125 4 1635312 [A/G] exm381212 4 1643103 [A/G] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_R372C,Missense_R372C exm381216 4 1643123 [T/C] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_R365H,Missense_R365H exm381221 4 1643204 [T/C] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_C338Y,Missense_C338Y exm381222 4 1643268 [C/G] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_V317L,Missense_V317L exm2068908 4 1643304 [A/G] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_L305F,Missense_L305F rs4865453 4 1647743 [T/C] NM_001174070,NM_001013622 FAM53A,FAM53A Silent,Silent exm381229 4 1656760 [T/C] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_R276H,Missense_R276H exm381231 4 1656767 [A/G] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_R274W,Missense_R274W exm381233 4 1656776 [G/C] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_R271G,Missense_R271G exm381265 4 1657232 [A/G] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_R119W,Missense_R119W exm381279 4 1659135 [G/C] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_D46H,Missense_D46H exm381280 4 1659137 [T/C] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_N45S,Missense_N45S exm381281 4 1659162 [T/C] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_G37S,Missense_G37S exm381282 4 1659164 [T/C] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_S36N,Missense_S36N exm381284 4 1659182 [A/G] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_A30V,Missense_A30V exm381287 4 1670395 [A/G] NM_001174070,NM_001013622 FAM53A,FAM53A EXON Missense_P25L,Missense_P25L exm381296 4 1695433 [T/C] NM_006527 SLBP EXON Missense_Y235C exm-rs2247341 4 1701317 [A/G] NM_006527 SLBP EXON Synonymous_Y151Y exm381305 4 1701409 [T/C] NM_006527 SLBP EXON Missense_M121V variant.79776 4 1705318 [T/C] NM_006527 SLBP Silent exm381312 4 1705399 [A/G] NM_006527 SLBP EXON Missense_R69C exm2256482 4 1719294 [T/C] NM_138385,NM_001127266 TMEM129,TMEM129 EXON Silent,Synonymous_T263T exm381333 4 1719940 [T/C] NM_138385,NM_001127266 TMEM129,TMEM129 EXON Missense_V207M,Missense_V207M exm2275719 4 1719984 [A/G] NM_138385,NM_001127266 TMEM129,TMEM129 EXON Missense_T192M,Missense_T192M exm381340 4 1720119 [G/C] NM_138385,NM_001127266 TMEM129,TMEM129 EXON Missense_T147S,Missense_T147S exm381349 4 1720225 [A/T] NM_138385,NM_001127266 TMEM129,TMEM129 EXON Missense_Y112N,Missense_Y112N exm381354 4 1720312 [T/G] NM_138385,NM_001127266 TMEM129,TMEM129 EXON Missense_L83I,Missense_L83I rs2854915 4 1721654 [A/G] NM_138385,NM_001127266 TMEM129,TMEM129 Silent,Silent rs1374468 4 1724579 [T/C] NM_006342 TACC3 Silent exm381362 4 1725159 [A/G] NM_006342 TACC3 EXON Missense_Q4R exm381372 4 1725489 [T/C] NM_006342 TACC3 EXON Missense_T66M exm381374 4 1725546 [A/G] NM_006342 TACC3 EXON Missense_D85G exm381375 4 1725570 [T/C] NM_006342 TACC3 EXON Missense_S93L exm381379 4 1729556 [A/G] NM_006342 TACC3 EXON Missense_E143K exm2069683 4 1729844 [A/G] NM_006342 TACC3 EXON Missense_G239S exm381405 4 1729887 [T/G] NM_006342 TACC3 EXON Missense_G253V exm381408 4 1729911 [A/G] NM_006342 TACC3 EXON Missense_G261E exm381411 4 1729959 [T/C] NM_006342 TACC3 EXON Missense_A277V exm381413 4 1729976 [A/G] NM_006342 TACC3 EXON Missense_V283M exm381414 4 1729979 [T/C] NM_006342 TACC3 EXON Missense_P284S exm381416 4 1729988 [A/G] NM_006342 TACC3 EXON Missense_G287S rs1063743 4 1729988 [A/G] NM_006342 TACC3 EXON Missense_G287S exm381420 4 1730121 [C/G] NM_006342 TACC3 EXON Missense_S331W indel.79781 4 1730183 [D/I] NM_006342 TACC3 EXON exm381432 4 1730262 [T/C] NM_006342 TACC3 EXON Missense_P378L exm2256486 4 1730308 [T/C] NM_006342 TACC3 EXON Synonymous_D393D exm2069687 4 1730313 [G/C] NM_006342 TACC3 EXON Missense_P395R exm2069688 4 1730328 [A/G] NM_006342 TACC3 EXON Missense_R400Q exm381446 4 1730345 [A/G] NM_006342 TACC3 EXON Missense_D406N exm381449 4 1730379 [T/C] NM_006342 TACC3 EXON Missense_P417L exm381464 4 1732978 [A/G] NM_006342 TACC3 EXON Missense_G514E exm-rs798766 4 1734239 [T/C] NM_006342 TACC3 Silent exm381467 4 1737009 [T/C] NM_006342 TACC3 EXON Missense_T534M rs3752749 4 1737262 [T/C] NM_006342 TACC3 Silent exm381476 4 1737468 [T/C] NM_006342 TACC3 EXON Missense_S552L rs11248073 4 1737502 [T/C] NM_006342 TACC3 EXON Synonymous_F563F exm381483 4 1737542 [A/G] NM_006342 TACC3 EXON Missense_V577M exm381492 4 1738999 [T/C] NM_006342 TACC3 EXON Missense_R594C exm381497 4 1739008 [A/G] NM_006342 TACC3 EXON Missense_E597K exm381508 4 1739379 [A/G] NM_006342 TACC3 EXON Missense_G631R rs4865463 4 1742400 [T/C] NM_006342 TACC3 Silent exm381529 4 1742616 [A/G] NM_006342 TACC3 EXON Missense_D709G rs1867926 4 1785738 [A/G] rs7668207 4 1786702 [A/G] exm381562 4 1801025 [A/G] NM_000142,NM_001163213,NM_022965 FGFR3,FGFR3,FGFR3 EXON Missense_G52S,Missense_G52S,Missense_G52S exm381567 4 1801064 [A/G] NM_000142,NM_001163213,NM_022965 FGFR3,FGFR3,FGFR3 EXON Missense_G65R,Missense_G65R,Missense_G65R exm381579 4 1801241 [T/C] NM_000142,NM_001163213,NM_022965 FGFR3,FGFR3,FGFR3 EXON Missense_R124W,Missense_R124W,Missense_R124W exm381603 4 1803438 [A/G] NM_000142,NM_001163213,NM_022965 FGFR3,FGFR3,FGFR3 EXON Missense_S236N,Missense_S236N,Missense_S236N exm381604 4 1803444 [A/G] NM_000142,NM_001163213,NM_022965 FGFR3,FGFR3,FGFR3 EXON Missense_R238Q,Missense_R238Q,Missense_R238Q exm381605 4 1803456 [T/C] NM_000142,NM_001163213,NM_022965 FGFR3,FGFR3,FGFR3 EXON Missense_T242M,Missense_T242M,Missense_T242M exm381624 4 1805473 [A/G] NM_000142,NM_001163213,NM_022965 FGFR3,FGFR3,FGFR3 EXON Missense_V329I,Silent,Silent exm2070343 4 1806569 [A/G] NM_000142,NM_001163213,NM_022965 FGFR3,FGFR3,FGFR3 EXON Missense_A429T,Missense_A431T,Missense_A317T exm381659 4 1806633 [T/C] NM_000142,NM_001163213,NM_022965 FGFR3,FGFR3,FGFR3 EXON Missense_T450M,Missense_T452M,Missense_T338M exm381681 4 1807488 [A/G] NM_000142,NM_001163213,NM_022965 FGFR3,FGFR3,FGFR3 EXON Missense_V553M,Missense_V555M,Missense_V441M exm381698 4 1807657 [T/C] NM_000142,NM_001163213,NM_022965 FGFR3,FGFR3,FGFR3 EXON Missense_A609V,Missense_A611V,Missense_A497V exm381714 4 1808391 [A/G] NM_000142,NM_001163213,NM_022965 FGFR3,FGFR3,FGFR3 EXON Missense_A717T,Missense_A719T,Missense_A605T exm381737 4 1808964 [T/C] NM_000142,NM_001163213,NM_022965 FGFR3,FGFR3,FGFR3 EXON Missense_P799L,Missense_P801L,Missense_P687L rs4865477 4 1815990 [A/G] NM_012318 LETM1 EXON Silent exm2273385 4 1815990 [A/G] NM_012318 LETM1 EXON Silent exm381763 4 1816281 [T/C] NM_012318 LETM1 EXON Missense_K697R exm381765 4 1817466 [T/G] NM_012318 LETM1 EXON Missense_E665D exm381771 4 1818568 [T/C] NM_012318 LETM1 EXON Missense_K606R exm381774 4 1818625 [T/C] NM_012318 LETM1 EXON Missense_K587R exm381776 4 1821141 [T/C] NM_012318 LETM1 EXON Missense_Q556R exm381785 4 1824020 [T/C] NM_012318 LETM1 EXON Missense_R499H exm381798 4 1824770 [A/G] NM_012318 LETM1 EXON Missense_A474V exm381843 4 1843201 [T/C] NM_012318 LETM1 EXON Missense_R156Q exm381852 4 1843324 [T/C] NM_012318 LETM1 EXON Missense_R115H exm381853 4 1843333 [T/C] NM_012318 LETM1 EXON Missense_R112H exm381854 4 1843342 [T/C] NM_012318 LETM1 EXON Missense_H109R exm381855 4 1843351 [T/C] NM_012318 LETM1 EXON Missense_R106H exm381856 4 1843365 [G/C] NM_012318 LETM1 EXON Missense_Q101H exm381861 4 1843417 [A/G] NM_012318 LETM1 EXON Missense_S84L exm381863 4 1843424 [T/C] NM_012318 LETM1 EXON Missense_I82V exm381870 4 1843520 [T/C] NM_012318 LETM1 EXON Missense_V50I kgp143477 4 1845256 [A/G] NM_012318 LETM1 Silent rs2001193 4 1851952 [T/G] NM_012318 LETM1 Silent exm381881 4 1902580 [A/G] NM_001042424,NM_007331,NM_133330,NM_133331,NM_133335,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_G67S,Missense_G67S,Missense_G67S,Missense_G67S,Missense_G67S,Missense_G67S exm381889 4 1902722 [G/C] NM_001042424,NM_007331,NM_133330,NM_133331,NM_133335,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_T114S,Missense_T114S,Missense_T114S,Missense_T114S,Missense_T114S,Missense_T114S exm381894 4 1902826 [A/G] NM_001042424,NM_007331,NM_133330,NM_133331,NM_133335,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_A149T,Missense_A149T,Missense_A149T,Missense_A149T,Missense_A149T,Missense_A149T rs17132081 4 1908714 [T/G] NM_001042424,NM_007331,NM_133330,NM_133331,NM_133335,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 Silent,Silent,Silent,Silent,Silent,Silent exm381907 4 1918721 [T/A] NM_001042424,NM_007331,NM_133330,NM_133331,NM_133335,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_Q295L,Missense_Q295L,Missense_Q295L,Missense_Q295L,Missense_Q295L,Missense_Q295L exm381909 4 1918741 [T/C] NM_001042424,NM_007331,NM_133330,NM_133331,NM_133335,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_P302S,Missense_P302S,Missense_P302S,Missense_P302S,Missense_P302S,Missense_P302S exm381920 4 1920270 [A/G] NM_001042424,NM_007331,NM_133330,NM_133331,NM_133335,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_T444A,Missense_T444A,Missense_T444A,Missense_T444A,Missense_T444A,Missense_T444A exm381937 4 1936897 [A/C] NM_001042424,NM_007331,NM_133330,NM_133331,NM_133335,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_H528N,Missense_H528N,Missense_H528N,Missense_H528N,Missense_H528N,Missense_H528N exm381938 4 1936899 [A/C] NM_001042424,NM_007331,NM_133330,NM_133331,NM_133335,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_H528Q,Missense_H528Q,Missense_H528Q,Missense_H528Q,Missense_H528Q,Missense_H528Q exm381939 4 1936900 [A/C] NM_001042424,NM_007331,NM_133330,NM_133331,NM_133335,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_T529P,Missense_T529P,Missense_T529P,Missense_T529P,Missense_T529P,Missense_T529P exm381940 4 1936907 [C/G] NM_001042424,NM_007331,NM_133330,NM_133331,NM_133335,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_R531T,Missense_R531T,Missense_R531T,Missense_R531T,Missense_R531T,Missense_R531T exm381942 4 1936967 [T/C] NM_001042424,NM_007331,NM_133330,NM_133331,NM_133335,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_T551M,Missense_T551M,Missense_T551M,Missense_T551M,Missense_T551M,Missense_T551M exm381948 4 1940236 [G/C] NM_001042424,NM_007331,NM_133330,NM_133331,NM_133335,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_A578G,Missense_A578G,Missense_A578G,Missense_A578G,Missense_A578G,Missense_A578G exm381952 4 1944099 [T/G] NM_001042424,NM_007331,NM_133330,NM_133331,NM_133335,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Silent,Silent,Silent,Silent,Silent,Missense_L639V variant.79810 4 1944164 [T/C] NM_001042424,NM_007331,NM_133330,NM_133331,NM_133335,NM_133334 WHSC1,WHSC1,WHSC1,WHSC1,WHSC1,WHSC1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm381982 4 1956963 [T/C] NM_001042424,NM_133330,NM_133331,NM_133335 WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_V805A,Missense_V805A,Missense_V805A,Missense_V805A exm381983 4 1956968 [A/G] NM_001042424,NM_133330,NM_133331,NM_133335 WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_A807T,Missense_A807T,Missense_A807T,Missense_A807T exm382003 4 1961228 [T/C] NM_001042424,NM_133330,NM_133331,NM_133335 WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_Y1006H,Missense_Y1006H,Missense_Y1006H,Missense_Y1006H exm382034 4 1978405 [T/C] NM_001042424,NM_133330,NM_133331,NM_133335 WHSC1,WHSC1,WHSC1,WHSC1 EXON Synonymous_F1275F,Synonymous_F1275F,Synonymous_F1275F,Synonymous_F1275F exm382040 4 1980469 [A/G] NM_001042424,NM_133330,NM_133331,NM_133335 WHSC1,WHSC1,WHSC1,WHSC1 EXON Missense_T1311A,Missense_T1311A,Missense_T1311A,Missense_T1311A exm382057 4 1985084 [A/G] NM_005663 NELFA EXON Missense_R528C exm382086 4 1985717 [A/G] NM_005663 NELFA EXON Missense_T398M exm382092 4 1985774 [A/G] NM_005663 NELFA EXON Missense_A379V exm382100 4 1986559 [T/C] NM_005663 NELFA EXON Missense_I349V exm382102 4 1986571 [T/C] NM_005663 NELFA EXON Missense_A345T exm382126 4 1988103 [G/C] NM_005663 NELFA EXON Missense_A232P rs1077020 4 1988193 [T/C] NM_005663,NR_030641 NELFA,MIR943 EXON Silent,Silent exm382144 4 1989684 [T/C] NM_005663 NELFA EXON Missense_A210T variant.79812 4 1993266 [T/C] NM_005663 NELFA Silent rs580602 4 1993985 [A/G] NM_005663 NELFA Silent rs513895 4 1996670 [A/G] NM_005663 NELFA Silent rs382939 4 2058475 [T/C] exm382211 4 2065658 [T/C] NM_178557 NAT8L EXON Missense_V238A exm382232 4 2073958 [T/C] NM_181808 POLN EXON Nonsense_W862X exm-IND4-2044500 4 2074703 [D/I] NM_181808 POLN EXON exm382244 4 2077199 [A/G] NM_181808 POLN EXON Missense_P812L exm382254 4 2083359 [T/C] NM_181808 POLN Silent exm2071957 4 2083438 [T/G] NM_181808 POLN EXON Missense_P744T variant.79825 4 2087370 [A/G] NM_181808 POLN EXON Nonsense_R723X exm382263 4 2087404 [A/C] NM_181808 POLN EXON Missense_F711L exm382268 4 2097595 [A/G] NM_181808 POLN EXON Missense_A683V exm382270 4 2097602 [T/C] NM_181808 POLN EXON Missense_V681M rs1923775 4 2103096 [T/C] NM_181808 POLN Silent newrs139077950 4 2129844 [A/G] NM_181808 POLN EXON Nonsense_Q660X exm382275 4 2129906 [A/G] NM_181808 POLN EXON Missense_P639L exm382278 4 2129943 [T/C] NM_181808 POLN EXON Missense_I627V exm382279 4 2130921 [T/C] NM_181808 POLN EXON Missense_T618A exm382286 4 2132961 [T/A] NM_181808 POLN EXON Missense_K596N rs554222 4 2155017 [A/G] NM_181808 POLN Silent exm382292 4 2158516 [A/G] NM_181808 POLN EXON Missense_P577L exm382296 4 2159625 [T/C] NM_181808 POLN EXON Missense_K542R exm382298 4 2160884 [A/G] NM_181808 POLN EXON Nonsense_Q537X exm382301 4 2160925 [T/C] NM_181808 POLN EXON Missense_R523Q exm382302 4 2160940 [T/C] NM_181808 POLN Silent variant.79832 4 2172409 [T/C] NM_181808 POLN EXON Synonymous_A517A exm382311 4 2172443 [A/G] NM_181808 POLN EXON Missense_T506M exm382312 4 2172456 [T/C] NM_181808 POLN EXON Missense_S502G exm382313 4 2172826 [T/A] NM_181808 POLN EXON Missense_E486V exm382315 4 2172847 [A/G] NM_181808 POLN EXON Missense_T479M variant.79833 4 2172910 [T/G] NM_181808 POLN Silent exm382330 4 2176454 [A/G] NM_181808 POLN EXON Missense_R425C exm382333 4 2178018 [T/G] NM_181808 POLN EXON Missense_T408K rs6830513 4 2181080 [T/C] NM_181808 POLN EXON Synonymous_T378T exm382348 4 2194946 [T/C] NM_181808 POLN EXON Missense_G336S exm382351 4 2195009 [A/G] NM_181808 POLN EXON Missense_P315S rs10018786 4 2195024 [T/G] NM_181808 POLN EXON Missense_M310L exm382352 4 2195024 [T/G] NM_181808 POLN EXON Missense_M310L exm382361 4 2200366 [A/G] NM_181808 POLN EXON Missense_P265S exm382362 4 2200386 [A/C] NM_181808 POLN EXON Missense_G258V exm382363 4 2200402 [A/G] NM_181808 POLN EXON Missense_R253C exm382368 4 2209749 [A/G] NM_181808 POLN EXON Missense_Y227H exm382369 4 2209758 [T/C] NM_181808 POLN EXON Missense_T224A exm382374 4 2209880 [A/C] NM_181808 POLN EXON Missense_G183V exm382375 4 2209884 [T/C] NM_181808 POLN EXON Missense_E182K exm382376 4 2209899 [A/C] NM_181808 POLN EXON Missense_D177Y indel.79839 4 2209913 [I/D] NM_181808 POLN EXON exm2072009 4 2209922 [T/C] NM_181808 POLN EXON Missense_S169N exm382377 4 2209976 [T/C] NM_181808 POLN EXON Missense_S151N exm382378 4 2210057 [T/G] NM_181808 POLN EXON Missense_Q124P exm382380 4 2210065 [A/C] NM_181808 POLN EXON Missense_Q121H exm382383 4 2210075 [A/G] NM_181808 POLN EXON Missense_L118S indel.79841 4 2210153 [I/D] NM_181808 POLN EXON rs6855461 4 2214418 [T/C] NM_181808 POLN Silent variant.79843 4 2230842 [T/C] NM_181808,NM_024511 POLN,HAUS3 EXON Nonsense_W39X,Silent exm382394 4 2230858 [A/G] NM_181808,NM_024511 POLN,HAUS3 EXON Missense_V34A,Silent variant.79844 4 2230895 [A/G] NM_181808,NM_024511 POLN,HAUS3 EXON Nonsense_Q22X,Silent exm382402 4 2233709 [A/G] NM_024511 HAUS3 EXON Missense_I586T rs11937432 4 2233709 [A/G] NM_024511 HAUS3 EXON Missense_I586T exm382405 4 2233755 [A/C] NM_024511 HAUS3 EXON Nonsense_E571X exm382408 4 2233809 [T/C] NM_024511 HAUS3 EXON Missense_V553M variant.79846 4 2237975 [A/G] NM_024511 HAUS3 EXON Nonsense_Q520X exm382414 4 2237980 [T/C] NM_024511 HAUS3 EXON Missense_G518E indel.79847 4 2238034 [I/D] NM_024511 HAUS3 EXON exm382419 4 2238099 [G/C] NM_024511 HAUS3 EXON Missense_L478F exm382420 4 2240337 [A/G] NM_024511 HAUS3 EXON Missense_T448I exm382422 4 2240377 [T/C] NM_024511 HAUS3 EXON Missense_I435V exm382423 4 2240398 [C/G] NM_024511 HAUS3 EXON Missense_D428H exm382426 4 2240475 [T/C] NM_024511 HAUS3 EXON Missense_Y402C exm382427 4 2240484 [T/C] NM_024511 HAUS3 EXON Missense_R399Q exm382429 4 2240521 [G/C] NM_024511 HAUS3 EXON Missense_L387V 1KG_4_2240569 4 2240569 [I/D] NM_024511 HAUS3 EXON exm382435 4 2240724 [T/C] NM_024511 HAUS3 EXON Missense_S319N exm382436 4 2240734 [T/C] NM_024511 HAUS3 EXON Missense_S316G var_4_2241862 4 2241863 [I/D] NM_024511 HAUS3 EXON exm382454 4 2242247 [T/C] NM_024511 HAUS3 EXON Missense_E143K exm382458 4 2242450 [A/G] NM_024511 HAUS3 EXON Missense_A75V indel.79852 4 2242588 [D/I] NM_024511 HAUS3 EXON exm382477 4 2252824 [T/G] NM_006454 MXD4 EXON Missense_D153E exm2256550 4 2252881 [T/C] NM_006454 MXD4 EXON Synonymous_S134S rs2236998 4 2256716 [A/G] NM_006454 MXD4 Silent exm2269708 4 2270534 [T/C] exm382517 4 2273127 [T/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_V745M,Missense_V815M,Missense_V785M exm382521 4 2273411 [T/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_D737N,Missense_D807N,Missense_D777N rs2051561 4 2275835 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Synonymous_F650F,Synonymous_F720F,Synonymous_F690F rs4974666 4 2277497 [T/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent rs17132392 4 2277731 [T/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent rs17132398 4 2283910 [T/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent rs11737692 4 2287421 [A/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent rs7681318 4 2294746 [T/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent rs2071664 4 2304007 [A/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent exm382540 4 2306052 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_S602L,Missense_S672L,Missense_S642L exm382541 4 2306053 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_S602P,Missense_S672P,Missense_S642P exm382547 4 2306196 [T/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_R554Q,Missense_R624Q,Missense_R594Q exm382549 4 2306221 [T/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_P546T,Missense_P616T,Missense_P586T exm382550 4 2306229 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_A543V,Missense_A613V,Missense_A583V exm382553 4 2306259 [T/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_S533N,Missense_S603N,Missense_S573N exm382557 4 2306281 [T/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_A526T,Missense_A596T,Missense_A566T exm382559 4 2306286 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_S524L,Missense_S594L,Missense_S564L exm382562 4 2306329 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_R510C,Missense_R580C,Missense_R550C exm2256553 4 2306339 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Synonymous_D506D,Synonymous_D576D,Synonymous_D546D exm382567 4 2306356 [T/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_G501R,Missense_G571R,Missense_G541R exm382573 4 2306440 [T/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_E473K,Missense_E543K,Missense_E513K exm382580 4 2306478 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_A460V,Missense_A530V,Missense_A500V exm382583 4 2306499 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_S453L,Missense_S523L,Missense_S493L exm382589 4 2306583 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_A425V,Missense_A495V,Missense_A465V exm382595 4 2306646 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_A404V,Missense_A474V,Missense_A444V exm382597 4 2306662 [C/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_D399H,Missense_D469H,Missense_D439H exm382603 4 2306696 [T/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_D387E,Missense_D457E,Missense_D427E exm382604 4 2306733 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_A375V,Missense_A445V,Missense_A415V exm2240856 4 2306739 [A/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_G373V,Missense_G443V,Missense_G413V exm382613 4 2306871 [T/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_R329H,Missense_R399H,Missense_R369H exm382616 4 2306896 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_R321W,Missense_R391W,Missense_R361W exm382618 4 2306902 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_R319C,Missense_R389C,Missense_R359C exm382626 4 2307012 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_A282V,Missense_A352V,Missense_A322V exm382630 4 2307087 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_P257L,Missense_P327L,Missense_P297L exm382632 4 2307121 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_P246S,Missense_P316S,Missense_P286S exm382638 4 2307177 [T/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_R227H,Missense_R297H,Missense_R267H exm382643 4 2307225 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_T211M,Missense_T281M,Missense_T251M exm382646 4 2307249 [A/G] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 EXON Missense_T203M,Missense_T273M,Missense_T243M rs743695 4 2307574 [A/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent rs4974674 4 2311361 [T/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent rs654207 4 2324865 [T/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent rs2097298 4 2329295 [T/C] NM_001172659,NM_020972,NM_001172656 ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent exm382654 4 2332705 [T/C] NM_001172659,NM_020972,NM_001172656,NM_001172658,NM_001172660,NM_001172657 ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28 EXON Silent,Silent,Silent,Silent,Silent,Missense_G258R rs3118617 4 2340417 [T/C] NM_001172659,NM_020972,NM_001172656,NM_001172658,NM_001172660,NM_001172657 ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent,Silent,Silent,Silent rs2071678 4 2343851 [A/G] NM_001172659,NM_020972,NM_001172656,NM_001172658,NM_001172660,NM_001172657 ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent,Silent,Silent,Silent rs11731588 4 2351350 [A/G] NM_001172659,NM_020972,NM_001172656,NM_001172658,NM_001172660,NM_001172657 ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent,Silent,Silent,Silent exm382693 4 2355766 [T/C] NM_001172659,NM_020972,NM_001172656,NM_001172658,NM_001172660,NM_001172657 ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28 EXON Silent,Missense_Y25C,Missense_Y25C,Silent,Silent,Missense_Y25C rs3135127 4 2359802 [A/G] NM_001172659,NM_020972,NM_001172656,NM_001172658,NM_001172660,NM_001172657 ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent,Silent,Silent,Silent rs3135143 4 2367744 [A/G] NM_020972,NM_001172656,NM_001172658,NM_001172657 ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent,Silent rs1894433 4 2369253 [A/G] NM_020972,NM_001172656,NM_001172658,NM_001172657 ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent,Silent rs4257708 4 2385384 [A/G] NM_020972,NM_001172656,NM_001172658,NM_001172657 ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent,Silent rs3135093 4 2390303 [A/G] NM_020972,NM_001172656,NM_001172658,NM_001172657 ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent,Silent rs875133 4 2403365 [A/G] NM_020972,NM_001172656,NM_001172658,NM_001172657 ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent,Silent rs10009152 4 2408397 [T/C] NM_020972,NM_001172656,NM_001172658,NM_001172657 ZFYVE28,ZFYVE28,ZFYVE28,ZFYVE28 Silent,Silent,Silent,Silent rs2269493 4 2428463 [A/G] NM_001193282 LOC402160 Silent rs9993090 4 2430298 [T/C] NM_001193282 LOC402160 Silent rs1209520 4 2430887 [A/C] NM_001193282 LOC402160 Silent exm382702 4 2438704 [A/G] NM_001193282 LOC402160 EXON Missense_D72G rs3128843 4 2446532 [A/G] NM_001193282 LOC402160 Silent exm382706 4 2446955 [T/A] NM_001193282 LOC402160 EXON Nonsense_K188X exm382707 4 2451467 [A/G] NM_001193282 LOC402160 EXON Missense_R238Q exm382708 4 2451694 [T/C] NM_001193282 LOC402160 EXON Missense_C253R rs9990857 4 2458078 [A/G] NM_001193282 LOC402160 Silent exm382712 4 2460519 [G/C] NM_001193282 LOC402160 EXON Missense_E411Q exm382713 4 2460546 [A/G] NM_001193282 LOC402160 EXON Missense_A420T exm382714 4 2460571 [T/C] NM_001193282 LOC402160 EXON Missense_A428V exm382720 4 2461888 [A/G] NM_001193282 LOC402160 EXON Missense_H527R rs4974695 4 2471974 [T/C] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 Silent,Silent,Silent rs846238 4 2478521 [A/G] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 Silent,Silent,Silent exm2269895 4 2484203 [T/C] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 Silent,Silent,Silent variant.79856 4 2492138 [A/G] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 EXON Silent,Silent,Silent rs3749467 4 2499117 [T/G] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 Silent,Silent,Silent rs1203863 4 2502637 [T/C] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 Silent,Silent,Silent rs1203860 4 2505091 [T/G] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 Silent,Silent,Silent 1KG_4_2514182 4 2514182 [D/I] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 EXON exm382734 4 2514193 [G/C] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 EXON Silent,Missense_R81S,Missense_R81S exm382737 4 2514302 [A/G] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 EXON Silent,Missense_D118N,Missense_D118N exm382739 4 2514816 [A/G] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 EXON Missense_Q74R,Synonymous_S127S,Synonymous_S127S exm382742 4 2515405 [A/G] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 EXON Missense_R91K,Synonymous_Q144Q,Synonymous_Q144Q kgp5383047 4 2517223 [A/G] NM_001185010,NM_002938,NM_001185009 RNF4,RNF4,RNF4 EXON Silent,Silent,Silent kgp4047743 4 2519924 [A/G] exm2240883 4 2632732 [A/G] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_M1V,Silent,Missense_M1V,Missense_M1V,Missense_M1V exm2072583 4 2632766 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_A12V,Silent,Missense_A12V,Missense_A12V,Missense_A12V exm382749 4 2632804 [G/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P25A,Silent,Missense_P25A,Missense_P25A,Missense_P25A exm382750 4 2632805 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P25L,Silent,Missense_P25L,Missense_P25L,Missense_P25L exm382755 4 2641509 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Synonymous_N71N,Silent,Synonymous_N71N,Synonymous_N71N,Synonymous_N71N exm2256561 4 2641509 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Synonymous_N71N,Silent,Synonymous_N71N,Synonymous_N71N,Synonymous_N71N exm382758 4 2641568 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_A91V,Silent,Missense_A91V,Missense_A91V,Missense_A91V exm382763 4 2648449 [A/G] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_T110A,Silent,Missense_T110A,Missense_T110A,Missense_T110A exm382769 4 2659543 [A/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_T151N,Silent,Missense_T175N,Missense_T151N,Missense_T151N exm382773 4 2661301 [A/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_A178E,Silent,Missense_A202E,Missense_A178E,Missense_A178E exm382777 4 2661342 [A/G] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_M192V,Silent,Missense_M216V,Missense_M192V,Missense_M192V exm382779 4 2661355 [A/G] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_R196Q,Silent,Missense_R220Q,Missense_R196Q,Missense_R196Q exm382781 4 2661597 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P230S,Silent,Missense_P254S,Missense_P230S,Missense_P230S exm382791 4 2661676 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P256L,Silent,Missense_P280L,Missense_P256L,Missense_P256L exm382794 4 2661700 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_S264L,Silent,Missense_S288L,Missense_S264L,Missense_S264L exm2072655 4 2664692 [A/G] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_G334R,Silent,Missense_G356R,Missense_G334R,Missense_G334R exm382811 4 2673912 [A/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P424Q,Silent,Missense_P446Q,Missense_P424Q,Missense_P424Q exm382814 4 2673963 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P441L,Silent,Missense_P463L,Missense_P441L,Missense_P441L exm382815 4 2674038 [A/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_H466P,Silent,Missense_H488P,Missense_H466P,Missense_H466P rs17825119 4 2674271 [T/G] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A Silent,Silent,Silent,Silent,Silent,Silent rs231704 4 2687521 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A Silent,Silent,Silent,Silent,Silent,Silent exm382824 4 2691411 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_F546S,Silent,Missense_F568S,Missense_F546S,Missense_F546S exm382828 4 2692479 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P571L,Silent,Missense_P593L,Missense_P571L,Missense_P571L exm382830 4 2692509 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_S581L,Silent,Missense_S603L,Missense_S581L,Missense_S581L exm382843 4 2695385 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_T668M,Silent,Missense_T690M,Missense_T668M,Missense_T668M exm382860 4 2695585 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P735S,Silent,Missense_P757S,Missense_P735S,Missense_P735S exm382864 4 2696701 [A/G] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_E750K,Silent,Missense_E772K,Missense_E750K,Missense_E750K rs16843217 4 2698230 [A/G] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Synonymous_V848V,Silent,Synonymous_V870V,Synonymous_V848V,Synonymous_V848V exm382893 4 2701518 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_R916C,Silent,Missense_R938C,Missense_R916C,Missense_R916C exm382899 4 2701540 [A/G] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_R923Q,Silent,Missense_R945Q,Missense_R923Q,Missense_R923Q exm382903 4 2701672 [A/G] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_N967S,Silent,Missense_N989S,Missense_N967S,Missense_N967S exm382904 4 2701681 [A/G] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_N970S,Silent,Missense_N992S,Missense_N970S,Missense_N970S exm382914 4 2701816 [A/G] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_K1015R,Silent,Missense_K1037R,Missense_K1015R,Missense_K1015R exm382924 4 2702034 [A/G] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_D1088N,Silent,Missense_D1110N,Missense_D1088N,Missense_D1088N exm382926 4 2702066 [C/G] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_E1098D,Silent,Missense_E1120D,Missense_E1098D,Missense_E1098D exm382933 4 2702151 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A EXON Silent,Missense_P1127S,Silent,Missense_P1149S,Missense_P1127S,Missense_P1127S rs231697 4 2703101 [T/G] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A Silent,Silent,Silent,Silent,Silent,Silent rs12502642 4 2714023 [T/C] NR_046335,NM_003704,NR_046336,NM_001256667,NM_001256668,NM_001256666 FAM193A,FAM193A,FAM193A,FAM193A,FAM193A,FAM193A Silent,Silent,Silent,Silent,Silent,Silent rs232712 4 2743999 [A/G] NM_001161527,NM_024309 TNIP2,TNIP2 EXON Synonymous_A318A,Synonymous_A425A exm382956 4 2744184 [T/C] NM_001161527,NM_024309 TNIP2,TNIP2 EXON Missense_A257T,Missense_A364T exm382958 4 2744222 [T/C] NM_001161527,NM_024309 TNIP2,TNIP2 EXON Missense_R244Q,Missense_R351Q rs17831665 4 2744521 [T/C] NM_001161527,NM_024309 TNIP2,TNIP2 Silent,Silent exm382964 4 2746146 [T/C] NM_001161527,NM_024309 TNIP2,TNIP2 EXON Missense_A225T,Missense_A332T exm382979 4 2746491 [T/C] NM_001161527,NM_024309 TNIP2,TNIP2 EXON Missense_Q173R,Missense_Q280R exm382986 4 2746583 [A/C] NM_001161527,NM_024309 TNIP2,TNIP2 EXON Missense_Q142H,Missense_Q249H exm382996 4 2747198 [T/C] NM_001161527,NM_024309 TNIP2,TNIP2 EXON Missense_R104Q,Missense_R211Q rs2341303 4 2747475 [A/G] NM_001161527,NM_024309 TNIP2,TNIP2 Silent,Silent rs4690055 4 2748663 [A/G] NM_001161527,NM_024309 TNIP2,TNIP2 Silent,Silent exm383005 4 2749525 [T/C] NM_001161527,NM_024309 TNIP2,TNIP2 EXON Missense_V35I,Missense_V142I rs1263492 4 2764088 [A/G] rs6600766 4 2768630 [A/G] rs7695151 4 2772530 [T/C] rs231331 4 2798170 [A/G] NM_001122681 SH3BP2 Silent rs1751848 4 2804476 [A/G] NM_001122681 SH3BP2 Silent exm2256565 4 2814698 [T/G] NM_001122681,NM_001145855 SH3BP2,SH3BP2 Silent,Silent rs422734 4 2815256 [T/G] NM_001122681,NM_001145855 SH3BP2,SH3BP2 Silent,Silent exm383029 4 2822423 [A/G] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_V27M,Missense_V55M,Missense_V84M,Missense_V27M exm383038 4 2824764 [A/G] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_R80Q,Missense_R108Q,Missense_R137Q,Missense_R80Q exm383043 4 2826399 [A/G] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_H100R,Missense_H128R,Missense_H157R,Missense_H100R exm2256566 4 2826400 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Synonymous_H100H,Synonymous_H128H,Synonymous_H157H,Synonymous_H100H exm383060 4 2828992 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_A155V,Missense_A183V,Missense_A212V,Missense_A155V exm383061 4 2829000 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_R158W,Missense_R186W,Missense_R215W,Missense_R158W exm2240891 4 2829034 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_T169M,Missense_T197M,Missense_T226M,Missense_T169M exm383071 4 2829381 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_P189L,Missense_P217L,Missense_P246L,Missense_P189L exm383074 4 2829400 [A/G] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Synonymous_E195E,Synonymous_E223E,Synonymous_E252E,Synonymous_E195E rs231399 4 2831383 [T/G] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Synonymous_A250A,Synonymous_A278A,Synonymous_A307A,Synonymous_A250A exm383085 4 2831415 [G/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_P261R,Missense_P289R,Missense_P318R,Missense_P261R exm383098 4 2831570 [A/G] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_G313R,Missense_G341R,Missense_G370R,Missense_G313R exm383099 4 2831574 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_A314V,Missense_A342V,Missense_A371V,Missense_A314V exm383109 4 2831774 [A/G] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_V381M,Missense_V409M,Missense_V438M,Missense_V381M exm383114 4 2833299 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Nonsense_R415X,Nonsense_R443X,Nonsense_R472X,Nonsense_R415X exm383125 4 2833665 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_S456P,Missense_S484P,Missense_S513P,Missense_S456P exm383135 4 2834080 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_R477W,Missense_R505W,Missense_R534W,Missense_R477W exm383142 4 2834742 [G/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_S505C,Missense_S533C,Missense_S562C,Missense_S505C exm383149 4 2835541 [A/G] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_G556S,Missense_G584S,Missense_G613S,Missense_G556S exm383150 4 2835561 [A/G] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Missense_X562W,Missense_X590W,Missense_X619W,Missense_X562W rs231394 4 2836628 [T/C] NM_001122681,NM_001145855,NM_001145856,NM_003023 SH3BP2,SH3BP2,SH3BP2,SH3BP2 EXON Silent,Silent,Silent,Silent rs1263360 4 2861430 [A/G] NM_001119,NM_014190,NM_176801,NM_014189 ADD1,ADD1,ADD1,ADD1 Silent,Silent,Silent,Silent exm2240894 4 2877658 [T/C] NM_001119,NM_014190,NM_176801,NM_014189 ADD1,ADD1,ADD1,ADD1 EXON Missense_R6C,Missense_R6C,Missense_R6C,Missense_R6C exm383152 4 2877665 [T/C] NM_001119,NM_014190,NM_176801,NM_014189 ADD1,ADD1,ADD1,ADD1 EXON Missense_A8V,Missense_A8V,Missense_A8V,Missense_A8V variant.79875 4 2877747 [A/C] NM_001119,NM_014190,NM_176801,NM_014189 ADD1,ADD1,ADD1,ADD1 EXON Nonsense_Y35X,Nonsense_Y35X,Nonsense_Y35X,Nonsense_Y35X exm383177 4 2896408 [T/C] NM_001119,NM_014190,NM_176801,NM_014189 ADD1,ADD1,ADD1,ADD1 EXON Missense_R231C,Missense_R231C,Missense_R231C,Missense_R231C exm383183 4 2896448 [T/C] NM_001119,NM_014190,NM_176801,NM_014189 ADD1,ADD1,ADD1,ADD1 EXON Missense_A244V,Missense_A244V,Missense_A244V,Missense_A244V exm383197 4 2901088 [T/G] NM_001119,NM_014190,NM_176801,NM_014189 ADD1,ADD1,ADD1,ADD1 EXON Missense_G363C,Missense_G363C,Missense_G363C,Missense_G363C rs2285084 4 2906285 [A/G] NM_001119,NM_014190,NM_176801,NM_014189 ADD1,ADD1,ADD1,ADD1 Silent,Silent,Silent,Silent exm383219 4 2906707 [T/G] NM_001119,NM_014190,NM_176801,NM_014189 ADD1,ADD1,ADD1,ADD1 EXON Missense_G460W,Missense_G460W,Missense_G460W,Missense_G460W exm383228 4 2910308 [A/G] NM_001119,NM_014190,NM_176801,NM_014189 ADD1,ADD1,ADD1,ADD1 EXON Missense_V528M,Missense_V528M,Missense_V559M,Missense_V559M rs16843589 4 2916931 [A/G] NM_001119,NM_014190,NM_176801,NM_014189 ADD1,ADD1,ADD1,ADD1 Silent,Silent,Silent,Silent exm383242 4 2927761 [A/G] NM_001119,NM_014190,NM_176801,NM_014189 ADD1,ADD1,ADD1,ADD1 EXON Missense_E595K,Missense_E595K,Missense_E626K,Missense_E626K exm383246 4 2927807 [T/C] NM_001119,NM_014190,NM_176801,NM_014189 ADD1,ADD1,ADD1,ADD1 EXON Missense_P610L,Missense_P610L,Missense_P641L,Missense_P641L variant.79877 4 2928367 [A/G] NM_001119,NM_014190,NM_176801,NM_014189 ADD1,ADD1,ADD1,ADD1 Silent,Silent,Silent,Silent exm383269 4 2930198 [A/T] NM_001119,NM_014190,NM_176801,NM_014189 ADD1,ADD1,ADD1,ADD1 EXON Missense_K721M,Missense_E732D,Missense_E763D,Missense_K752M exm383278 4 2932668 [G/C] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_A422G,Missense_A422G exm383301 4 2933177 [T/C] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_V347M,Missense_V347M exm383305 4 2933284 [A/G] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_R341W,Missense_R341W exm383315 4 2933343 [A/G] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_T321I,Missense_T321I exm383318 4 2933558 [T/A] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_F303Y,Missense_F303Y exm383319 4 2933567 [T/C] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_R300H,Missense_R300H exm383322 4 2933646 [A/G] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_R274C,Missense_R274C exm2072848 4 2933799 [A/G] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_R259C,Missense_R259C exm383329 4 2933849 [A/G] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_A242V,Missense_A242V exm383332 4 2934118 [A/G] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_I218T,Missense_I218T rs1263349 4 2934308 [A/G] NM_001146069,NM_001120 MFSD10,MFSD10 Silent,Silent exm2072859 4 2934328 [A/G] NM_001146069,NM_001120 MFSD10,MFSD10 EXON Missense_M177T,Missense_M177T exm383403 4 2940916 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_R825W exm2072873 4 2940921 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_M823T exm2256571 4 2940995 [A/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Synonymous_R798R exm2072876 4 2940995 [A/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Synonymous_R798R exm383413 4 2941045 [A/T] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_S782C exm2072878 4 2941266 [T/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_R769Q exm383420 4 2941317 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_P752L exm383421 4 2941320 [T/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_R751Q exm383422 4 2941321 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_R751W exm383423 4 2941327 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_L749F rs2032463 4 2941988 [T/C] NR_015453,NM_003703 NOP14-AS1,NOP14 Silent,Silent exm383430 4 2943361 [T/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_Q716R rs1054090 4 2943361 [T/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_Q716R exm383434 4 2943419 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_R697C exm383444 4 2944025 [T/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_V649M exm383454 4 2946920 [T/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_T558A exm383461 4 2948203 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_A524V newrs150411289 4 2948210 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Nonsense_R522X indel.79902 4 2948261 [D/I] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON exm383468 4 2949274 [C/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_T493R exm383473 4 2950087 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_M444T exm2072909 4 2951669 [G/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_T425R exm383485 4 2951804 [A/G] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_L380S exm383489 4 2951868 [T/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_E359K exm383491 4 2951912 [A/C] NR_015453,NM_003703 NOP14-AS1,NOP14 EXON Silent,Missense_V344G exm383504 4 2954057 [T/A] NM_003703 NOP14 EXON Missense_M272K exm383509 4 2954121 [T/C] NM_003703 NOP14 EXON Missense_D251N variant.79908 4 2955354 [A/G] NM_003703 NOP14 EXON Nonsense_R211X indel.79909 4 2956145 [D/I] NM_003703 NOP14 exm383519 4 2956258 [T/C] NM_003703 NOP14 EXON Missense_G169S exm383521 4 2956290 [A/G] NM_003703 NOP14 EXON Missense_A158V exm383531 4 2959357 [T/C] NM_003703 NOP14 EXON Missense_M102I exm383544 4 2964988 [A/G] NM_003703 NOP14 EXON Missense_A20V rs2022485 4 2979601 [T/C] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 Silent,Silent,Silent rs3021136 4 2982459 [T/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 Silent,Silent,Silent newrs189339086 4 2986239 [A/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 Silent,Silent,Silent exm383559 4 2986239 [A/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 Silent,Silent,Silent indel.79911 4 2986250 [I/D] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON exm383562 4 2986333 [T/C] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_I49T,Silent,Missense_I49T rs2051555 4 2990375 [A/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 Silent,Silent,Silent exm383566 4 2990487 [T/C] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_P61L,Missense_P29L,Missense_P61L exm383568 4 2990499 [T/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_R65L,Missense_R33L,Missense_R65L exm2240908 4 2993963 [G/C] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_D95H,Missense_D63H,Missense_D95H exm383575 4 2993991 [T/C] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_S104L,Missense_S72L,Missense_S104L exm2256573 4 2994002 [A/C] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Synonymous_R108R,Synonymous_R76R,Synonymous_R108R exm383579 4 3005964 [A/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_A116T,Missense_A84T,Missense_A116T exm383581 4 3006043 [T/C] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_A142V,Missense_A110V,Missense_A142V exm383587 4 3009536 [T/C] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Nonsense_Q173X,Nonsense_Q141X,Nonsense_Q173X var_4_3009555 4 3009555 [T/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_R179M,Missense_R147M,Missense_R179M newrs138580900 4 3011373 [A/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 Silent,Silent,Silent exm2240909 4 3011382 [A/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_V182I,Missense_V150I,Missense_V182I exm383599 4 3015499 [A/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_E229K,Missense_E197K,Missense_E229K exm383600 4 3015553 [A/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_V247I,Missense_V215I,Missense_V247I variant.79916 4 3024139 [A/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 Silent,Silent,Silent exm383606 4 3024158 [A/C] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_N317T,Missense_N285T,Missense_N317T rs1891710 4 3024723 [A/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 Silent,Silent,Silent exm383611 4 3029659 [T/C] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_L331F,Missense_L299F,Missense_L331F exm383612 4 3029662 [A/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_G332S,Missense_G300S,Missense_G332S exm383615 4 3029694 [G/C] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_R342S,Missense_R310S,Missense_R342S exm383622 4 3031016 [T/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_H383Q,Missense_H351Q,Missense_H383Q variant.79917 4 3031136 [T/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_M423I,Missense_M391I,Missense_M423I variant.79918 4 3031137 [A/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 Silent,Silent,Silent exm383631 4 3037213 [T/C] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_L457P,Missense_L425P,Missense_L457P exm383632 4 3037231 [A/C] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_E463A,Missense_E431A,Missense_E463A rs1801058 4 3039150 [T/C] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_V486A,Missense_V454A,Missense_V486A exm383637 4 3039150 [T/C] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_V486A,Missense_V454A,Missense_V486A exm383638 4 3039176 [A/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_A495T,Missense_A463T,Missense_A495T exm383640 4 3040146 [C/G] NM_182982,NM_001004056,NM_001004057 GRK4,GRK4,GRK4 EXON Missense_S530T,Missense_S498T,Silent rs2471343 4 3042902 [A/C] rs2857847 4 3046853 [A/G] rs7664480 4 3084269 [A/C] NM_002111 HTT Silent exm383685 4 3109012 [A/G] NM_002111 HTT EXON Synonymous_R203R exm383687 4 3109095 [T/C] NM_002111 HTT EXON Missense_A231V exm383688 4 3109116 [T/C] NM_002111 HTT EXON Missense_S238F rs10015979 4 3109442 [A/G] NM_002111 HTT Silent exm2073035 4 3129023 [G/C] NM_002111 HTT EXON Missense_A479P exm383716 4 3129062 [T/C] NM_002111 HTT EXON Missense_H492Y exm383722 4 3129240 [A/G] NM_002111 HTT EXON Missense_G551E exm383733 4 3132038 [A/G] NM_002111 HTT EXON Missense_Q625R rs363084 4 3132436 [A/G] NM_002111 HTT Silent exm383742 4 3133113 [A/G] NM_002111 HTT EXON Missense_G696E exm383745 4 3133368 [T/G] NM_002111 HTT EXON Missense_L701R exm383751 4 3133442 [T/C] NM_002111 HTT EXON Missense_H726Y exm383758 4 3134411 [A/G] NM_002111 HTT EXON Missense_V787M newrs111903799 4 3134452 [T/C] NM_002111 HTT Silent exm383766 4 3136138 [T/C] NM_002111 HTT EXON Missense_M835T exm383775 4 3138013 [A/G] NM_002111 HTT EXON Missense_D920N exm2073063 4 3144528 [C/G] NM_002111 HTT EXON Missense_T994R rs6855981 4 3148276 [A/G] NM_002111 HTT Silent exm383798 4 3148570 [A/G] NM_002111 HTT EXON Missense_V1064I exm383802 4 3148624 [G/C] NM_002111 HTT EXON Missense_D1082H exm383803 4 3148653 [T/G] NM_002111 HTT EXON Missense_I1091M exm383805 4 3149780 [C/G] NM_002111 HTT EXON Missense_A1115G exm383825 4 3162034 [T/C] NM_002111 HTT EXON Missense_T1260M rs363098 4 3174256 [T/C] NM_002111 HTT Silent exm383833 4 3174845 [A/C] NM_002111 HTT EXON Missense_N1385H rs3025837 4 3174845 [A/C] NM_002111 HTT EXON Missense_N1385H variant.79922 4 3176531 [A/G] NM_002111 HTT Silent exm383845 4 3176775 [A/G] NM_002111 HTT EXON Missense_D1450N rs363097 4 3177259 [A/G] NM_002111 HTT Silent rs363096 4 3180021 [T/C] NM_002111 HTT Silent exm383860 4 3182293 [T/C] NM_002111 HTT EXON Missense_T1555I exm383866 4 3188417 [T/C] NM_002111 HTT EXON Missense_R1654W exm383869 4 3189391 [A/C] NM_002111 HTT EXON Missense_T1668N exm383872 4 3189510 [T/C] NM_002111 HTT EXON Missense_C1708R exm383873 4 3189547 [A/C] NM_002111 HTT EXON Missense_T1720N rs16844026 4 3190533 [T/C] NM_002111 HTT Silent exm383892 4 3205776 [A/G] NM_002111 HTT EXON Missense_M1873I exm2265660 4 3207142 [A/G] NM_002111 HTT Silent exm383896 4 3208331 [A/G] NM_002111 HTT EXON Missense_V1943I exm383898 4 3208575 [C/G] NM_002111 HTT EXON Missense_I1980M exm383901 4 3208640 [A/G] NM_002111 HTT EXON Missense_R2002H variant.79923 4 3208715 [T/C] NM_002111 HTT Silent exm383904 4 3209071 [A/G] NM_002111 HTT EXON Missense_G2047R exm383908 4 3210510 [T/C] NM_002111 HTT EXON Missense_L2055F exm383910 4 3210567 [T/C] NM_002111 HTT EXON Missense_S2074P exm383923 4 3213827 [A/G] NM_002111 HTT EXON Missense_A2196T newrs193157701 4 3214441 [A/G] NM_002111 HTT Silent exm383938 4 3215835 [T/C] NM_002111 HTT EXON Missense_Y2309H rs362331 4 3215835 [T/C] NM_002111 HTT EXON Missense_Y2309H exm383945 4 3216894 [A/G] NM_002111 HTT EXON Missense_K2337R exm383958 4 3221998 [A/T] NM_002111 HTT EXON Missense_E2444D exm383979 4 3230343 [T/G] NM_002111 HTT EXON Missense_V2617G exm383987 4 3230681 [T/C] NM_002111 HTT EXON Missense_P2685L exm384009 4 3234980 [A/G] NM_002111 HTT EXON Missense_V2786I exm384032 4 3240187 [T/C] NM_002111 HTT EXON Missense_F2969L exm384043 4 3240698 [A/G] NM_002111 HTT EXON Missense_A3070T rs362306 4 3242100 [A/G] NM_002111 HTT EXON Silent exm384084 4 3254965 [A/G] NM_001042690 MSANTD1 EXON Missense_A118T exm384085 4 3255056 [T/C] NM_001042690 MSANTD1 EXON Missense_P148L exm384090 4 3255145 [T/C] NM_001042690 MSANTD1 EXON Missense_Y178H exm384098 4 3257507 [A/C] NM_001042690 MSANTD1 EXON Missense_K218Q exm2073184 4 3257667 [T/G] NM_001042690 MSANTD1 EXON Missense_R271M rs3095081 4 3263776 [T/C] rs2798224 4 3267668 [A/G] rs2798221 4 3270488 [T/C] rs3129317 4 3287655 [A/G] rs10022193 4 3291694 [A/G] rs13129052 4 3300783 [A/G] exm384114 4 3317943 [T/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_S16A,Missense_S16A exm384117 4 3317976 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_R27W,Missense_R27W exm2073190 4 3318001 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_T35M,Missense_T35M exm2073193 4 3318063 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_V56M,Missense_V56M exm384126 4 3318100 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_N68S,Missense_N68S exm384135 4 3318199 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_R101H,Missense_R101H variant.79927 4 3318303 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Nonsense_R136X,Nonsense_R136X exm384139 4 3318339 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_N148D,Missense_N148D exm384150 4 3318517 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_S207L,Missense_S207L exm384152 4 3318570 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_I225V,Missense_I225V exm384157 4 3318625 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_T243M,Missense_T243M exm384164 4 3318726 [T/A] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_M277L,Missense_M277L exm384166 4 3318768 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_V291M,Missense_V291M exm2073203 4 3318860 [C/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_D321E,Missense_D321E exm384176 4 3318888 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_G331S,Missense_G331S exm384183 4 3319024 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_P376L,Missense_P376L exm384192 4 3319206 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_R437W,Missense_R437W exm384199 4 3319261 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_S455N,Missense_S455N exm384211 4 3319366 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_H490R,Missense_H490R exm384215 4 3319476 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_V527M,Missense_V527M exm384221 4 3319558 [A/G] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_Q554R,Missense_Q554R exm384229 4 3319678 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_P594L,Missense_P594L exm384230 4 3319687 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_A597V,Missense_A597V rs6826787 4 3326393 [A/G] NM_198229,NM_002926 RGS12,RGS12 Silent,Silent rs7668784 4 3339038 [T/G] NM_198229,NM_002926 RGS12,RGS12 Silent,Silent rs7688715 4 3342137 [A/G] NM_198229,NM_002926 RGS12,RGS12 Silent,Silent exm384240 4 3344760 [T/C] NM_198229,NM_002926 RGS12,RGS12 EXON Missense_R660C,Missense_R660C rs2749781 4 3346617 [T/C] NM_198229,NM_002926 RGS12,RGS12 Silent,Silent rs12640186 4 3374539 [T/C] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 Silent,Silent,Silent rs6855619 4 3375722 [T/C] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 Silent,Silent,Silent exm384253 4 3388163 [T/C] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Synonymous_G673G,Synonymous_G673G,Synonymous_G25G rs12649466 4 3390900 [A/C] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 Silent,Silent,Silent rs12510769 4 3394374 [T/C] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 Silent,Silent,Silent rs16844272 4 3395406 [T/G] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 Silent,Silent,Silent rs1406674 4 3409700 [T/C] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 Silent,Silent,Silent rs16844301 4 3415378 [A/G] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 Silent,Silent,Silent exm384275 4 3417811 [T/C] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Missense_A797V,Missense_A797V,Missense_A149V exm384279 4 3418647 [A/G] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Missense_N812S,Missense_N812S,Missense_N164S indel.79929 4 3419159 [D/I] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON rs762864 4 3419677 [A/G] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 Silent,Silent,Silent exm384321 4 3425300 [A/G] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Missense_V1056I,Missense_V1056I,Missense_V408I exm384342 4 3430406 [A/T] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Missense_K1178I,Missense_K1178I,Missense_K530I exm384352 4 3432319 [T/C] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Missense_R1251W,Missense_R1251W,Missense_R603W exm384366 4 3432437 [A/C] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Missense_P1290H,Missense_P1290H,Missense_P642H exm384376 4 3432638 [T/C] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Missense_P1357L,Missense_P1357L,Missense_P709L exm384379 4 3432655 [T/C] NM_198229,NM_002926,NM_198227 RGS12,RGS12,RGS12 EXON Nonsense_Q1363X,Nonsense_Q1363X,Nonsense_Q715X exm-rs6818397 4 3434885 [T/G] NM_198229,NM_198227 RGS12,RGS12 Silent,Silent rs13116176 4 3436588 [A/G] NM_198229,NM_198227 RGS12,RGS12 Silent,Silent variant.79931 4 3441202 [T/C] NM_198229,NM_198227 RGS12,RGS12 EXON Nonsense_R1379X,Nonsense_R731X exm384381 4 3441247 [C/G] NM_198229,NM_198227 RGS12,RGS12 EXON Missense_G1394R,Missense_G746R exm2073264 4 3441254 [T/C] NM_198229,NM_198227 RGS12,RGS12 EXON Missense_A1396V,Missense_A748V exm384384 4 3441259 [A/G] NM_198229,NM_198227 RGS12,RGS12 EXON Missense_G1398R,Missense_G750R exm384398 4 3444460 [A/T] NM_001528 HGFAC EXON Missense_N40I exm384400 4 3444477 [G/C] NM_001528 HGFAC EXON Missense_E46Q exm384403 4 3444510 [A/G] NM_001528 HGFAC EXON Missense_T57A exm384406 4 3444528 [A/G] NM_001528 HGFAC EXON Missense_V63M exm384407 4 3444581 [T/G] NM_001528 HGFAC EXON Missense_S80R exm2256585 4 3445131 [A/G] NM_001528 HGFAC EXON Synonymous_P153P exm384432 4 3445802 [A/G] NM_001528 HGFAC EXON Missense_N171S exm384436 4 3445858 [T/C] NM_001528 HGFAC EXON Missense_R190W exm384444 4 3446079 [T/G] NM_001528 HGFAC EXON Missense_G214C exm384446 4 3446091 [T/G] NM_001528 HGFAC EXON Missense_A218S exm384447 4 3446112 [A/G] NM_001528 HGFAC EXON Missense_V225M exm384448 4 3446117 [A/T] NM_001528 HGFAC EXON Missense_E226D exm2073288 4 3446140 [A/G] NM_001528 HGFAC EXON Missense_R234Q exm384451 4 3446150 [G/C] NM_001528 HGFAC EXON Missense_C237W exm384453 4 3446161 [A/G] NM_001528 HGFAC EXON Missense_R241Q exm384476 4 3447042 [T/C] NM_001528 HGFAC EXON Missense_A356V exm384477 4 3447062 [T/C] NM_001528 HGFAC EXON Missense_R363C exm384478 4 3447063 [A/G] NM_001528 HGFAC EXON Missense_R363H rs16844383 4 3447243 [T/C] NM_001528 HGFAC Silent exm384488 4 3447821 [T/G] NM_001528 HGFAC EXON Missense_E385D exm384513 4 3449284 [T/C] NM_001528 HGFAC EXON Missense_T474M exm384515 4 3449314 [T/C] NM_001528 HGFAC EXON Missense_P484L exm384521 4 3449360 [T/C] NM_001528 HGFAC Silent exm384525 4 3449652 [A/G] NM_001528 HGFAC EXON Missense_R509H exm384526 4 3449667 [T/C] NM_001528 HGFAC EXON Missense_S514L exm384536 4 3449863 [A/G] NM_001528 HGFAC EXON Missense_G549S exm384537 4 3449868 [A/C] NM_001528 HGFAC EXON Nonsense_Y550X exm384541 4 3449915 [A/G] NM_001528 HGFAC EXON Missense_K566R exm384544 4 3449941 [A/G] NM_001528 HGFAC EXON Missense_A575T exm384559 4 3451109 [A/G] NM_001528 HGFAC EXON Missense_R644Q exm384561 4 3451120 [T/C] NM_001528 HGFAC EXON Missense_P648S rs1203111 4 3454304 [A/G] rs4690099 4 3454454 [T/C] rs10937927 4 3469443 [A/G] NM_173660,NM_001164673 DOK7,DOK7 Silent,Silent exm-rs6831256 4 3473139 [A/G] NM_173660,NM_001164673 DOK7,DOK7 Silent,Silent exm384573 4 3475166 [T/C] NM_173660,NM_001164673 DOK7,DOK7 EXON Missense_S45L,Missense_S45L exm384576 4 3475193 [A/G] NM_173660,NM_001164673 DOK7,DOK7 EXON Missense_R54H,Missense_R54H exm384577 4 3475210 [A/G] NM_173660,NM_001164673 DOK7,DOK7 EXON Missense_E60K,Missense_E60K exm384587 4 3475345 [T/C] NM_173660,NM_001164673 DOK7,DOK7 EXON Missense_R105C,Missense_R105C rs6842419 4 3477299 [A/G] NM_173660,NM_001164673 DOK7,DOK7 Silent,Silent rs2699426 4 3478323 [T/C] NM_173660,NM_001164673 DOK7,DOK7 Silent,Silent rs1881803 4 3485786 [A/G] NM_173660,NM_001164673 DOK7,DOK7 Silent,Silent exm2073349 4 3487273 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Synonymous_G180G,Missense_R177C,Silent exm384611 4 3487294 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Synonymous_A187A,Nonsense_R184X,Silent exm384617 4 3487321 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Synonymous_F196F,Nonsense_R193X,Silent exm384619 4 3487329 [T/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_I199S,Missense_H195Q,Silent exm384625 4 3487374 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_P214L,Synonymous_A210A,Silent exm384627 4 3491416 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_P222L,Synonymous_P218P,Silent exm384628 4 3491419 [A/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_G223E,Synonymous_G219G,Silent exm384633 4 3491504 [A/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Synonymous_A251A,Missense_G248R,Silent rs2699416 4 3494055 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 Silent,Silent,Silent exm384638 4 3494494 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_R261C,Silent,Silent exm384639 4 3494495 [A/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_R261H,Silent,Silent exm384642 4 3494525 [G/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_S271T,Silent,Silent exm384643 4 3494529 [G/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_H272Q,Silent,Silent exm384646 4 3494551 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_R280W,Silent,Silent exm384656 4 3494600 [A/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_Q296R,Silent,Silent rs6811423 4 3494600 [A/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_Q296R,Silent,Silent exm384658 4 3494617 [C/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_A302P,Silent,Silent exm384690 4 3494881 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_P390S,Silent,Missense_P80S exm384691 4 3494884 [A/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_G391R,Silent,Missense_G81R exm2256587 4 3494898 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Synonymous_Y395Y,Silent,Synonymous_Y85Y exm384695 4 3494917 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_R402W,Silent,Missense_R92W exm384696 4 3494938 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_R409C,Silent,Missense_R99C exm384698 4 3494943 [A/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_S410R,Silent,Missense_S100R exm384700 4 3494956 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_P415S,Silent,Missense_P105S exm384702 4 3494971 [C/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_P420A,Silent,Missense_P110A exm384709 4 3495008 [A/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_R432K,Silent,Missense_R122K exm384721 4 3495170 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_P486L,Silent,Missense_P176L exm2073368 4 3495182 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_S490L,Silent,Missense_S180L exm384723 4 3495193 [A/G] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Missense_V494I,Silent,Missense_V184I rs10937930 4 3496110 [T/C] NM_173660,NM_001164673,NM_001256896 DOK7,DOK7,DOK7 EXON Silent,Silent,Silent rs3184 4 3510514 [T/C] NM_002337 LRPAP1 EXON Silent rs6789 4 3514695 [A/G] NM_002337 LRPAP1 EXON Silent exm384737 4 3514715 [C/G] NM_002337 LRPAP1 EXON Missense_H354D exm384744 4 3516501 [T/C] NM_002337 LRPAP1 EXON Missense_R330Q exm384772 4 3519881 [T/C] NM_002337 LRPAP1 EXON Missense_D211N exm384777 4 3519917 [T/C] NM_002337 LRPAP1 EXON Missense_I199V exm384782 4 3520630 [T/C] NM_002337 LRPAP1 EXON Missense_N187S exm2073395 4 3520638 [A/G] NM_002337 LRPAP1 EXON Synonymous_H184H var_4_3520660 4 3520661 [D/I] NM_002337 LRPAP1 EXON exm384784 4 3520694 [T/C] NM_002337 LRPAP1 EXON Missense_G166S exm384788 4 3521804 [A/G] NM_002337 LRPAP1 EXON Missense_H156Y exm384789 4 3521805 [A/C] NM_002337 LRPAP1 EXON Missense_W155C exm384791 4 3521837 [T/C] NM_002337 LRPAP1 EXON Missense_G145R exm384796 4 3521895 [T/G] NM_002337 LRPAP1 EXON Missense_D125E rs1730775 4 3525057 [A/G] NM_002337 LRPAP1 Silent variant.79958 4 3526629 [T/C] NM_002337 LRPAP1 Silent exm384798 4 3526642 [T/C] NM_002337 LRPAP1 EXON Missense_N114S exm384799 4 3526645 [T/C] NM_002337 LRPAP1 EXON Missense_R113H exm384803 4 3526685 [T/C] NM_002337 LRPAP1 EXON Missense_G100S exm384804 4 3526709 [A/C] NM_002337 LRPAP1 EXON Missense_A92S exm384805 4 3526715 [T/C] NM_002337 LRPAP1 EXON Missense_E90K rs762870 4 3528200 [T/C] NM_002337 LRPAP1 Silent exm2073402 4 3534052 [A/T] NM_002337 LRPAP1 EXON Missense_S30C kgp5681378 4 3536112 [T/C] rs1188583 4 3585953 [T/C] NR_040045 FLJ35424 Silent rs6856283 4 3602109 [A/G] rs7673350 4 3637536 [T/C] rs177798 4 3644957 [T/C] rs4916611 4 3652592 [A/G] rs12644079 4 3656174 [A/C] rs11731847 4 3659574 [T/C] rs17203086 4 3661134 [T/G] rs16844747 4 3668328 [T/C] rs6827536 4 3679491 [T/C] NR_034136 LOC100133461 EXON Silent rs4916622 4 3687360 [A/G] rs11930561 4 3692118 [A/C] rs4916608 4 3702481 [T/C] rs929006 4 3709475 [A/C] rs6837039 4 3711721 [T/G] rs2748784 4 3715551 [T/C] rs11938629 4 3719380 [A/G] rs7377501 4 3721269 [A/C] rs2748763 4 3722407 [A/G] rs1894441 4 3734895 [T/C] rs445275 4 3742998 [T/G] rs4498196 4 3747842 [A/C] rs9291156 4 3754818 [A/G] rs3935655 4 3760093 [A/G] rs9714431 4 3767394 [A/G] exm2073549 4 3768805 [A/G] NM_000683 ADRA2C EXON Missense_E158K exm384855 4 3769507 [A/G] NM_000683 ADRA2C EXON Missense_V392M rs7681159 4 3775685 [T/C] rs6822427 4 3780072 [T/C] rs28612860 4 3813929 [T/C] rs28590539 4 3824221 [T/C] rs28687658 4 3845104 [T/G] rs28414555 4 3854303 [A/G] rs28366830 4 3856471 [T/C] rs28523451 4 3874052 [T/C] exm2269896 4 3881341 [T/G] rs3889790 4 3923728 [A/G] rs28716006 4 3935145 [A/G] rs4974767 4 3980138 [A/C] kgp1796558 4 3987589 [T/C] kgp8134521 4 3997262 [A/G] rs13103428 4 4039718 [A/C] kgp3076804 4 4046079 [A/G] rs7679962 4 4167133 [T/C] rs6840829 4 4185610 [T/C] exm384884 4 4198893 [T/C] NM_177998 OTOP1 EXON Synonymous_S556S exm384914 4 4199266 [A/G] NM_177998 OTOP1 EXON Missense_A432V exm384942 4 4199600 [T/C] NM_177998 OTOP1 EXON Missense_V321M variant.79969 4 4199729 [A/G] NM_177998 OTOP1 EXON Nonsense_Q278X exm384958 4 4199797 [A/G] NM_177998 OTOP1 EXON Missense_T255M exm384963 4 4204253 [T/C] NM_177998 OTOP1 EXON Missense_V218I rs1991917 4 4207366 [T/G] NM_177998 OTOP1 Silent exm384973 4 4207798 [A/C] NM_177998 OTOP1 Silent exm384974 4 4207799 [T/C] NM_177998 OTOP1 EXON Missense_R200K rs1991915 4 4208861 [T/C] NM_177998 OTOP1 Silent rs2916424 4 4209796 [A/G] NM_177998 OTOP1 Silent exm384996 4 4228425 [T/C] NM_177998 OTOP1 EXON Missense_K56R rs2920244 4 4238315 [T/G] NM_032927 TMEM128 Silent exm385024 4 4239661 [A/C] NM_032927 TMEM128 EXON Missense_F110V indel.79978 4 4242089 [I/D] NM_032927 TMEM128 EXON 1KG_4_4242109 4 4242109 [I/D] NM_032927 TMEM128 EXON variant.79979 4 4242132 [T/C] NM_032927 TMEM128 EXON Nonsense_W81X exm385026 4 4242132 [T/C] NM_032927 TMEM128 EXON Nonsense_W81X exm385027 4 4247938 [T/C] NM_032927 TMEM128 EXON Missense_H53R exm385031 4 4248022 [T/G] NM_032927 TMEM128 EXON Missense_N25T rs2916464 4 4249620 [T/C] NM_032927 TMEM128 EXON Silent rs2980098 4 4252956 [A/G] rs2916457 4 4253074 [T/C] rs2980091 4 4258887 [T/C] rs11936688 4 4259052 [A/G] rs11943160 4 4259085 [T/G] rs10937817 4 4263087 [T/G] exm2265662 4 4267298 [A/G] exm385051 4 4269672 [T/G] NM_017816,NM_001145725 LYAR,LYAR EXON Missense_I362L,Missense_I362L exm385067 4 4276099 [A/G] NM_017816,NM_001145725 LYAR,LYAR EXON Missense_S276L,Missense_S276L exm2074624 4 4276124 [A/C] NM_017816,NM_001145725 LYAR,LYAR EXON Missense_A268S,Missense_A268S exm385068 4 4276132 [T/C] NM_017816,NM_001145725 LYAR,LYAR EXON Missense_H265R,Missense_H265R exm385071 4 4276198 [T/C] NM_017816,NM_001145725 LYAR,LYAR EXON Missense_G243D,Missense_G243D exm385074 4 4276259 [A/G] NM_017816,NM_001145725 LYAR,LYAR EXON Missense_R223C,Missense_R223C indel.79980 4 4276311 [D/I] NM_017816,NM_001145725 LYAR,LYAR EXON exm385083 4 4276469 [A/G] NM_017816,NM_001145725 LYAR,LYAR EXON Missense_R153W,Missense_R153W exm2273995 4 4276475 [A/C] NM_017816,NM_001145725 LYAR,LYAR EXON Missense_D151Y,Missense_D151Y exm2074627 4 4276484 [T/C] NM_017816,NM_001145725 LYAR,LYAR EXON Missense_K148E,Missense_K148E exm385087 4 4276490 [T/C] NM_017816,NM_001145725 LYAR,LYAR EXON Missense_V146I,Missense_V146I rs3733425 4 4279395 [A/G] NM_017816,NM_001145725 LYAR,LYAR Silent,Silent exm385090 4 4281173 [T/C] NM_017816,NM_001145725 LYAR,LYAR Silent,Silent exm385091 4 4281174 [A/G] NM_017816,NM_001145725 LYAR,LYAR EXON Synonymous_S143S,Synonymous_S143S exm385093 4 4281194 [A/C] NM_017816,NM_001145725 LYAR,LYAR EXON Missense_F137V,Missense_F137V exm385094 4 4281230 [A/G] NM_017816,NM_001145725 LYAR,LYAR EXON Missense_H125Y,Missense_H125Y exm385099 4 4281449 [A/T] NM_017816,NM_001145725 LYAR,LYAR EXON Missense_N89Y,Missense_N89Y exm385103 4 4283543 [A/G] NM_017816,NM_001145725 LYAR,LYAR EXON Synonymous_H68H,Synonymous_H68H exm2256616 4 4283543 [A/G] NM_017816,NM_001145725 LYAR,LYAR EXON Synonymous_H68H,Synonymous_H68H variant.79982 4 4285421 [A/G] NM_017816,NM_001145725 LYAR,LYAR EXON Nonsense_Q17X,Nonsense_Q17X rs2980213 4 4285756 [T/G] NM_017816,NM_001145725 LYAR,LYAR Silent,Silent rs2980156 4 4291517 [T/C] NM_017816,NM_001145725 LYAR,LYAR Silent,Silent rs2980164 4 4297389 [A/G] NM_145291 ZBTB49 Silent exm2256617 4 4301786 [A/G] NM_145291 ZBTB49 EXON Synonymous_A38A indel.79983 4 4303815 [I/D] NM_145291 ZBTB49 EXON exm385123 4 4303927 [G/C] NM_145291 ZBTB49 EXON Missense_V122L exm385140 4 4304315 [T/C] NM_145291 ZBTB49 EXON Missense_T251M exm385147 4 4304443 [T/C] NM_145291 ZBTB49 EXON Missense_C294R exm385149 4 4304522 [A/C] NM_145291 ZBTB49 EXON Missense_Y320S exm385152 4 4304599 [A/G] NM_145291 ZBTB49 EXON Missense_E346K exm385153 4 4304605 [A/G] NM_145291 ZBTB49 EXON Missense_A348T rs4689254 4 4304605 [A/G] NM_145291 ZBTB49 EXON Missense_A348T exm2277279 4 4304699 [T/C] NM_145291 ZBTB49 EXON Missense_P379L exm385164 4 4304749 [A/G] NM_145291 ZBTB49 EXON Missense_A396T exm385168 4 4304783 [T/C] NM_145291 ZBTB49 EXON Missense_P407L rs894486 4 4308513 [T/C] NM_145291 ZBTB49 Silent indel.79986 4 4314787 [I/D] NM_145291 ZBTB49 EXON rs16835572 4 4315947 [T/C] NM_145291 ZBTB49 Silent rs2980181 4 4316736 [T/C] NM_145291 ZBTB49 Silent rs6839561 4 4320468 [T/G] NM_145291 ZBTB49 Silent exm385182 4 4322368 [A/G] NM_145291 ZBTB49 EXON Synonymous_G541G exm385185 4 4322411 [A/G] NM_145291 ZBTB49 EXON Missense_T556A exm385192 4 4322570 [A/G] NM_145291 ZBTB49 EXON Missense_E609K exm2273996 4 4322607 [T/C] NM_145291 ZBTB49 EXON Missense_T621M exm385201 4 4322693 [A/G] NM_145291 ZBTB49 EXON Missense_G650S exm385202 4 4322700 [A/G] NM_145291 ZBTB49 EXON Missense_Y652C exm385205 4 4322732 [A/G] NM_145291 ZBTB49 EXON Missense_G663R exm385213 4 4322847 [A/G] NM_145291 ZBTB49 EXON Missense_G701D newrs148926395 4 4322933 [T/C] NM_145291 ZBTB49 EXON Nonsense_R730X exm385218 4 4322940 [G/C] NM_145291 ZBTB49 EXON Missense_S732C rs1020265 4 4327912 [T/C] rs1031095 4 4333418 [A/G] rs11735439 4 4337286 [A/G] rs6833372 4 4339626 [T/C] rs4688956 4 4343240 [T/C] rs4689307 4 4343261 [A/G] rs10027109 4 4346237 [A/G] rs3981 4 4346427 [A/G] rs6843595 4 4351730 [A/G] rs7677584 4 4354778 [T/C] rs13146316 4 4355774 [A/G] rs7674400 4 4360381 [A/G] rs4689340 4 4365066 [T/C] rs7690552 4 4366999 [T/G] rs7664767 4 4371097 [A/G] rs12512085 4 4372439 [A/G] rs4305464 4 4387560 [T/C] exm2074712 4 4389331 [A/G] NM_001040101,NM_014392 NSG1,NSG1 EXON Silent,Silent exm385231 4 4389432 [T/C] NM_001040101,NM_014392 NSG1,NSG1 EXON Missense_P26S,Missense_P26S rs4689416 4 4392357 [T/C] NM_001040101,NM_014392 NSG1,NSG1 Silent,Silent rs3792686 4 4393068 [T/C] NM_001040101,NM_014392 NSG1,NSG1 Silent,Silent exm385237 4 4393208 [A/G] NM_001040101,NM_014392 NSG1,NSG1 EXON Missense_V46M,Missense_V46M exm2275725 4 4393223 [A/G] NM_001040101,NM_014392 NSG1,NSG1 EXON Missense_E51K,Missense_E51K rs4402980 4 4402199 [T/G] NM_001040101,NM_014392 NSG1,NSG1 Silent,Silent rs9993572 4 4406716 [T/C] NM_001040101,NM_014392 NSG1,NSG1 Silent,Silent exm385252 4 4419002 [T/C] NM_001040101,NM_014392 NSG1,NSG1 EXON Missense_A133V,Missense_A133V exm385257 4 4419077 [T/C] NM_001040101,NM_014392 NSG1,NSG1 EXON Missense_T158M,Missense_T158M indel.79990 4 4422610 [I/D] NM_016930 STX18 EXON variant.79991 4 4425244 [T/C] NM_016930 STX18 Silent rs6825715 4 4436436 [T/C] NM_016930 STX18 Silent exm2074736 4 4436545 [G/C] NM_016930 STX18 EXON Missense_W218C exm385304 4 4440183 [T/G] NM_016930 STX18 EXON Missense_E184A rs6446647 4 4445315 [A/G] NM_016930 STX18 Silent exm385311 4 4459224 [T/C] NM_016930 STX18 EXON Missense_H119R exm385315 4 4473433 [T/C] NM_016930 STX18 EXON Missense_I57V rs9990629 4 4474034 [T/C] NM_016930 STX18 Silent rs11937935 4 4487610 [T/C] NM_016930 STX18 Silent rs6811336 4 4491724 [T/C] NM_016930 STX18 Silent rs6838568 4 4498594 [T/C] NM_016930 STX18 Silent rs12644497 4 4526248 [A/G] NM_016930 STX18 Silent rs7684307 4 4533974 [T/C] NM_016930 STX18 Silent rs7689784 4 4555497 [T/C] NR_037888 LOC100507266 Silent rs4689885 4 4560776 [T/C] NR_037888 LOC100507266 Silent rs16835890 4 4562693 [A/G] NR_037888 LOC100507266 Silent rs10016411 4 4562916 [T/C] NR_037888 LOC100507266 Silent rs4689174 4 4579042 [A/G] NR_037888 LOC100507266 Silent rs13142209 4 4585470 [T/C] NR_037888 LOC100507266 Silent rs10428352 4 4586438 [T/C] NR_037888 LOC100507266 Silent rs6446665 4 4593893 [A/C] NR_037888 LOC100507266 Silent rs751262 4 4595807 [T/C] NR_037888 LOC100507266 Silent rs1837711 4 4615708 [A/G] NR_037888 LOC100507266 Silent rs1510798 4 4629166 [T/G] NR_037888 LOC100507266 Silent rs17706055 4 4638578 [T/G] NR_037888 LOC100507266 Silent rs6840368 4 4645158 [A/C] NR_037888 LOC100507266 Silent rs4689911 4 4651063 [T/C] NR_037888 LOC100507266 Silent rs6824817 4 4653127 [A/G] NR_037888 LOC100507266 Silent rs13140219 4 4675257 [T/C] NR_037888 LOC100507266 Silent rs6446675 4 4675296 [A/G] NR_037888 LOC100507266 Silent rs4552410 4 4678511 [T/C] NR_037888 LOC100507266 Silent rs4458410 4 4687339 [A/G] NR_037888 LOC100507266 Silent rs11732485 4 4696955 [A/C] NR_037888 LOC100507266 Silent rs7690052 4 4700606 [T/C] NR_037888 LOC100507266 Silent rs4476553 4 4704014 [T/C] NR_037888 LOC100507266 Silent rs12648481 4 4716184 [A/G] rs17713587 4 4716521 [A/C] rs1000579 4 4719494 [A/G] rs10004542 4 4720455 [A/G] rs1000578 4 4721078 [A/G] rs12644897 4 4721690 [A/G] rs10013273 4 4721965 [T/C] rs13130037 4 4724676 [A/C] rs10009773 4 4727223 [A/G] rs10005569 4 4727507 [T/C] rs4381992 4 4739301 [T/G] rs6822612 4 4744593 [A/C] rs1318947 4 4761862 [A/G] rs6854227 4 4762672 [A/G] rs6830371 4 4767695 [T/C] rs2933568 4 4784580 [T/C] rs7681595 4 4794814 [T/G] rs2933572 4 4799692 [A/G] rs13117653 4 4805454 [A/G] rs4689941 4 4809353 [A/C] rs1907989 4 4818925 [A/G] rs749286 4 4820679 [T/C] rs4689946 4 4820813 [T/C] rs10212960 4 4822309 [T/C] rs7666443 4 4837058 [T/C] rs12640329 4 4846142 [T/C] rs3733397 4 4849402 [A/G] rs4435686 4 4851329 [A/G] rs6819546 4 4851979 [T/C] exm385335 4 4861844 [T/C] NM_002448 MSX1 EXON Missense_P73L exm385341 4 4861991 [T/G] NM_002448 MSX1 EXON Missense_G122V rs3775261 4 4863745 [A/C] NM_002448 MSX1 Silent exm385357 4 4864587 [A/G] NM_002448 MSX1 EXON Missense_S210N exm385360 4 4864712 [A/G] NM_002448 MSX1 EXON Missense_G252S rs7653986 4 4882944 [T/C] rs4280680 4 4889621 [A/C] rs6817411 4 4891148 [T/C] rs2968686 4 4895897 [T/C] rs4488884 4 4905825 [A/G] rs4593079 4 4912942 [A/G] rs736405 4 4923296 [T/C] rs7678151 4 4932825 [A/G] rs6446716 4 4937762 [A/G] rs1010776 4 4942150 [T/C] rs11733243 4 4944451 [T/C] rs4234841 4 4946111 [T/G] rs4689190 4 4952982 [T/G] rs16836510 4 4953457 [A/G] rs4574343 4 4953904 [T/C] rs10223021 4 4972091 [T/C] rs4689967 4 4984192 [A/G] rs4689968 4 4985810 [T/C] rs4072934 4 5005218 [A/G] rs4392464 4 5005698 [A/G] rs9999422 4 5010866 [T/G] exm385375 4 5016883 [A/G] NM_018659 CYTL1 EXON Missense_R136C exm2273997 4 5016889 [A/G] NM_018659 CYTL1 EXON Missense_R134C exm385381 4 5018561 [A/T] NM_018659 CYTL1 Silent exm385401 4 5021021 [A/G] NM_018659 CYTL1 EXON Missense_S51L exm2265817 4 5023112 [A/G] rs6820110 4 5033426 [T/C] exm-rs6446315 4 5035587 [A/G] 1KG_4_5053611 4 5053611 [I/D] NM_018401 STK32B EXON rs10222952 4 5053674 [T/C] NM_018401 STK32B Silent rs9799796 4 5055774 [T/C] NM_018401 STK32B Silent rs1868047 4 5067789 [T/C] NM_018401 STK32B Silent rs6847646 4 5074816 [T/G] NM_018401 STK32B Silent rs7693293 4 5093523 [A/G] NM_018401 STK32B Silent rs10428331 4 5096957 [T/C] NM_018401 STK32B Silent rs6833812 4 5110140 [A/G] NM_018401 STK32B Silent rs12649783 4 5120597 [A/C] NM_018401 STK32B Silent rs6825132 4 5121450 [T/G] NM_018401 STK32B Silent rs12651470 4 5128511 [T/C] NM_018401 STK32B Silent rs10011769 4 5135979 [T/G] NM_018401 STK32B Silent rs10012571 4 5145806 [T/C] NM_018401 STK32B Silent rs1562425 4 5146091 [A/G] NM_018401 STK32B Silent rs7672067 4 5154673 [A/G] NM_018401 STK32B Silent rs7683724 4 5159654 [A/G] NM_018401 STK32B Silent rs998984 4 5160771 [A/G] NM_018401 STK32B Silent rs13121814 4 5162594 [A/G] NM_018401 STK32B Silent exm2256638 4 5163466 [T/C] NM_018401 STK32B Silent exm385433 4 5170126 [A/G] NM_018401 STK32B EXON Missense_R70Q rs3749566 4 5170284 [T/C] NM_018401 STK32B Silent rs7654310 4 5182102 [T/C] NM_018401 STK32B Silent rs2369670 4 5182934 [A/G] NM_018401 STK32B Silent rs12650617 4 5187537 [A/C] NM_018401 STK32B Silent rs10937629 4 5188454 [T/C] NM_018401 STK32B Silent rs12504675 4 5196546 [A/G] NM_018401 STK32B Silent rs989707 4 5210283 [T/C] NM_018401 STK32B Silent rs1562429 4 5216320 [A/C] NM_018401 STK32B Silent exm-rs2008242 4 5221538 [G/C] NM_018401 STK32B Silent rs13123245 4 5228210 [A/G] NM_018401 STK32B Silent rs11728257 4 5231140 [A/G] NM_018401 STK32B Silent rs10001177 4 5249944 [A/G] NM_018401 STK32B Silent rs6446345 4 5257364 [A/G] NM_018401 STK32B Silent rs9985541 4 5265305 [A/C] NM_018401 STK32B Silent rs7655639 4 5279796 [T/C] NM_018401 STK32B Silent rs6849493 4 5309317 [A/G] NM_018401 STK32B Silent rs6829618 4 5310171 [A/G] NM_018401 STK32B Silent rs6853800 4 5324491 [A/G] NM_018401 STK32B Silent rs6853980 4 5324579 [A/G] NM_018401 STK32B Silent rs878544 4 5332558 [A/G] NM_018401 STK32B Silent rs16837029 4 5333091 [A/G] NM_018401 STK32B EXON Synonymous_E135E rs11727433 4 5365859 [A/G] NM_018401 STK32B Silent exm-rs7697839 4 5367985 [A/G] NM_018401 STK32B Silent rs16837061 4 5383127 [A/G] NM_018401 STK32B Silent rs10937641 4 5384256 [A/G] NM_018401 STK32B Silent rs6840421 4 5394914 [T/G] NM_018401 STK32B Silent rs195129 4 5396855 [A/G] NM_018401 STK32B Silent exm385449 4 5399970 [T/C] NM_018401 STK32B EXON Synonymous_H157H rs10010358 4 5405805 [A/C] NM_018401 STK32B Silent rs195113 4 5413525 [T/C] NM_018401 STK32B Silent exm385453 4 5418605 [T/C] NM_018401 STK32B EXON Missense_T169M rs81607 4 5420729 [A/G] NM_018401 STK32B Silent rs2654506 4 5426224 [A/G] NM_018401 STK32B Silent rs4017782 4 5427691 [A/G] NM_018401 STK32B Silent rs4689236 4 5439424 [A/C] NM_018401 STK32B Silent rs6827240 4 5440224 [T/G] NM_018401 STK32B Silent rs3733182 4 5448429 [A/G] NM_018401 STK32B EXON Missense_R198G exm385455 4 5448429 [A/G] NM_018401 STK32B EXON Missense_R198G rs739965 4 5451856 [A/G] NM_018401 STK32B Silent rs1001465 4 5452736 [T/C] NM_018401 STK32B Silent rs6814599 4 5456794 [A/G] NM_018401 STK32B Silent exm385462 4 5458543 [A/G] NM_018401 STK32B EXON Missense_E226K exm385463 4 5458556 [T/C] NM_018401 STK32B EXON Missense_V230A rs6446363 4 5460027 [T/C] NM_018401 STK32B Silent exm385469 4 5461848 [A/G] NM_018401 STK32B EXON Missense_E268K exm385470 4 5461855 [A/G] NM_018401 STK32B EXON Missense_R270H exm2256644 4 5461893 [T/C] NM_018401 STK32B EXON Synonymous_L283L exm385474 4 5461915 [T/C] NM_018401 STK32B EXON Missense_A290V rs3774817 4 5463535 [T/G] NM_018401 STK32B Silent exm385488 4 5469781 [A/G] NM_018401 STK32B EXON Missense_I364V indel.80001 4 5469796 [I/D] NM_018401 STK32B EXON exm385494 4 5500733 [A/C] NM_018401 STK32B EXON Missense_Q390K exm385496 4 5500743 [A/G] NM_018401 STK32B EXON Missense_S393N rs1468309 4 5516179 [A/G] rs10020769 4 5516502 [A/G] rs6446371 4 5526209 [A/G] exm385505 4 5527073 [G/C] NM_005750 C4orf6 EXON Missense_Q6E exm385506 4 5527074 [A/G] NM_005750 C4orf6 EXON Missense_Q6R exm385507 4 5527102 [A/C] NM_005750 C4orf6 EXON Missense_N15K exm385516 4 5527185 [T/C] NM_005750 C4orf6 EXON Missense_I43T exm2075912 4 5527214 [C/G] NM_005750 C4orf6 EXON Missense_A53P variant.80002 4 5527224 [A/G] NM_005750 C4orf6 Silent var_4_5527941 4 5527941 [A/G] NM_005750 C4orf6 Silent exm385522 4 5527943 [A/G] NM_005750 C4orf6 EXON Missense_G56E exm385523 4 5527971 [T/G] NM_005750 C4orf6 EXON Missense_E65D exm385526 4 5527979 [A/G] NM_005750 C4orf6 EXON Missense_C68Y exm385527 4 5527988 [T/C] NM_005750 C4orf6 EXON Missense_A71V exm385529 4 5528039 [G/C] NM_005750 C4orf6 EXON Nonsense_S88X exm385530 4 5528061 [A/G] NM_005750 C4orf6 Silent rs12641040 4 5532985 [A/G] rs12505562 4 5541650 [T/C] rs10937654 4 5550882 [A/C] variant.80006 4 5566989 [A/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Nonsense_Q1139X,Nonsense_Q1219X exm385540 4 5567000 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_R1135H,Missense_R1215H rs12511039 4 5570221 [A/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Synonymous_H1089H,Synonymous_H1169H exm385554 4 5570297 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_S1064N,Missense_S1144N exm2075973 4 5570315 [A/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_T1058M,Missense_T1138M exm385560 4 5570333 [A/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_A1052V,Missense_A1132V rs7670299 4 5576140 [T/C] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent exm385566 4 5576471 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_V1021M,Missense_V1101M indel.80008 4 5576501 [I/D] NM_001166136,NM_147127 EVC2,EVC2 exm385575 4 5578021 [A/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_V993A,Missense_V1073A exm385578 4 5578073 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_G976R,Missense_G1056R exm385579 4 5578101 [C/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_S966R,Missense_S1046R exm385586 4 5586384 [A/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_S928L,Missense_S1008L exm385591 4 5586510 [A/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_S886L,Missense_S966L exm385593 4 5586543 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_R875Q,Missense_R955Q exm385595 4 5586559 [A/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_R870W,Missense_R950W rs13109991 4 5591448 [A/G] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent rs749086 4 5594201 [A/C] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent exm2076069 4 5617239 [G/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_K833N,Missense_K913N rs7684204 4 5618307 [A/G] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent exm2273998 4 5620257 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_R805Q,Missense_R885Q exm385609 4 5620290 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_R794Q,Missense_R874Q rs9993134 4 5621673 [A/G] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent rs13131951 4 5622042 [A/G] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent exm385620 4 5624322 [A/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_P735S,Missense_P815S exm385622 4 5624349 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_V726M,Missense_V806M exm385632 4 5624468 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_R686H,Missense_R766H exm385650 4 5624670 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_T619A,Missense_T699A exm385652 4 5624688 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_V613I,Missense_V693I exm385655 4 5624705 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_R607H,Missense_R687H newrs6850875 4 5627471 [T/C] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent exm385659 4 5627483 [A/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_L600P,Missense_L680P exm385664 4 5627568 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_I572V,Missense_I652V exm385665 4 5627593 [G/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_E563D,Missense_E643D exm385666 4 5627634 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_A550T,Missense_A630T rs1078758 4 5629298 [A/G] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent exm385667 4 5630290 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_E548K,Missense_E628K exm385672 4 5630349 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_R528H,Missense_R608H exm385675 4 5630442 [A/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_M497T,Missense_M577T exm385687 4 5633663 [A/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_A443S,Missense_A523S exm385691 4 5633725 [A/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_L422R,Missense_L502R exm385695 4 5633752 [A/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_V413A,Missense_V493A exm2269897 4 5638652 [T/G] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent exm2269712 4 5641753 [T/G] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent exm385696 4 5642249 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_G408S,Missense_G488S exm385705 4 5642347 [G/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_T375R,Missense_T455R exm385716 4 5642513 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_T320A,Missense_T400A rs12108470 4 5654253 [T/C] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent rs10804964 4 5656508 [A/G] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent rs11735503 4 5658004 [T/C] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent exm385726 4 5664945 [A/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_P265L,Missense_P345L exm385727 4 5664970 [T/A] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_W257R,Missense_W337R rs4689273 4 5665201 [A/G] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent exm385729 4 5667244 [A/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_R255W,Missense_R335W exm385737 4 5667334 [A/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_A225S,Missense_A305S rs11730653 4 5668688 [T/C] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent rs13146518 4 5677101 [A/G] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent rs6446389 4 5680311 [T/C] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent rs957726 4 5686967 [T/C] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent exm385750 4 5687099 [A/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_R192W,Missense_R272W exm385755 4 5687148 [A/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Synonymous_N175N,Synonymous_N255N rs7684327 4 5688643 [A/C] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent rs10937660 4 5688669 [T/G] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent exm385764 4 5690898 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_K151R,Missense_K231R exm385766 4 5690902 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_S150G,Missense_S230G exm385782 4 5693048 [A/G] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_S75P,Missense_S155P variant.80023 4 5696060 [A/G] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent exm2076330 4 5696066 [T/C] NM_001166136,NM_147127 EVC2,EVC2 EXON Missense_R69H,Missense_R149H rs13126806 4 5699097 [A/G] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent variant.80024 4 5699315 [T/C] NM_001166136,NM_147127 EVC2,EVC2 Silent,Silent rs3774854 4 5711368 [A/G] rs7681283 4 5717867 [A/G] NM_153717 EVC Silent exm385802 4 5721021 [A/C] NM_153717 EVC EXON Missense_Q74P exm385806 4 5721084 [A/G] NM_153717 EVC EXON Missense_D95G rs1383178 4 5721930 [A/G] NM_153717 EVC Silent exm385809 4 5731074 [T/C] NM_153717 EVC EXON Missense_A114V exm385812 4 5733216 [A/C] NM_153717 EVC EXON Missense_H150P exm385815 4 5733236 [C/G] NM_153717 EVC EXON Missense_P157A exm385816 4 5733240 [C/G] NM_153717 EVC EXON Missense_S158C exm385820 4 5733299 [A/G] NM_153717 EVC EXON Missense_V178I exm385823 4 5733317 [A/G] NM_153717 EVC EXON Missense_D184N exm385824 4 5733336 [T/G] NM_153717 EVC EXON Missense_R190L exm385832 4 5735137 [T/C] NM_153717 EVC EXON Missense_T226M rs13130333 4 5735715 [A/G] NM_153717 EVC Silent exm385837 4 5743512 [T/C] NM_153717 EVC EXON Missense_Y258H rs1351357 4 5746620 [T/C] NM_153717 EVC Silent exm385844 4 5747028 [A/C] NM_153717 EVC EXON Missense_E300A indel.80030 4 5747030 [D/I] NM_153717 EVC EXON exm385848 4 5747063 [A/G] NM_153717 EVC EXON Missense_D312N rs4689312 4 5749784 [A/G] NM_153717 EVC Silent exm2076543 4 5749917 [T/C] NM_153717 EVC EXON Missense_L328F exm385859 4 5749975 [T/C] NM_153717 EVC EXON Missense_T347M exm385863 4 5750010 [A/G] NM_153717 EVC EXON Missense_D359N rs6813121 4 5751253 [A/C] NM_153717 EVC Silent rs899694 4 5753053 [A/C] NM_153717 EVC Silent rs899693 4 5753111 [T/C] NM_153717 EVC Silent exm385871 4 5754579 [T/C] NM_153717 EVC EXON Missense_T372M exm385874 4 5754591 [T/C] NM_153717 EVC EXON Missense_A376V exm385879 4 5754671 [A/G] NM_153717 EVC EXON Missense_G403S exm385882 4 5755516 [A/T] NM_153717 EVC EXON Missense_F440L exm385883 4 5755517 [A/G] NM_153717 EVC EXON Missense_V441I exm385884 4 5755524 [A/G] NM_153717 EVC EXON Missense_R443Q exm385885 4 5755529 [A/C] NM_153717 EVC EXON Missense_K445Q exm385887 4 5755542 [A/C] NM_153717 EVC EXON Missense_T449K exm385890 4 5755565 [A/G] NM_153717 EVC EXON Missense_E457K rs883994 4 5756967 [A/G] NM_153717 EVC Silent exm385902 4 5758026 [A/G] NM_153717 EVC EXON Missense_M500I exm385906 4 5758054 [A/G] NM_153717 EVC EXON Missense_V510I exm385909 4 5758066 [A/G] NM_153717 EVC EXON Missense_E514K rs735172 4 5758869 [T/C] NM_153717 EVC Silent rs11939527 4 5761366 [A/G] NM_153717 EVC Silent rs10937669 4 5771285 [A/G] NM_153717 EVC Silent rs4689304 4 5784934 [A/G] NM_153717 EVC Silent exm385915 4 5785351 [A/G] NM_153717 EVC EXON Missense_M546V exm385930 4 5785442 [A/G] NM_153717 EVC EXON Missense_R576Q rs1383180 4 5785442 [A/G] NM_153717 EVC EXON Missense_R576Q exm2241144 4 5785452 [T/G] NM_153717 EVC EXON Missense_Q579H exm2241145 4 5785469 [A/G] NM_153717 EVC EXON Missense_E585G rs11737504 4 5790159 [T/C] NM_153717 EVC Silent exm385936 4 5795384 [A/G] NM_153717 EVC EXON Missense_R609Q exm385938 4 5795413 [A/G] NM_153717 EVC EXON Missense_V619I exm385940 4 5798754 [T/C] NM_153717 EVC EXON Missense_T631M exm385943 4 5798802 [A/G] NM_153717 EVC EXON Missense_R647Q exm385945 4 5798825 [A/G] NM_153717 EVC EXON Missense_A655T exm2076685 4 5798903 [A/G] NM_153717 EVC EXON Missense_E681K exm385961 4 5800494 [A/G] NM_153717 EVC EXON Missense_R760Q exm2256657 4 5803721 [T/C] NM_153717 EVC EXON Synonymous_S783S exm385969 4 5803722 [A/G] NM_153717 EVC EXON Missense_A784T exm385970 4 5803735 [A/G] NM_153717 EVC EXON Missense_R788H rs2306399 4 5803903 [A/G] NM_153717 EVC Silent exm385979 4 5806526 [T/C] NM_153717 EVC EXON Missense_T840M exm385981 4 5806556 [T/C] NM_153717 EVC EXON Missense_A850V rs7654977 4 5809023 [A/G] NM_153717 EVC Silent rs7680768 4 5809187 [A/G] NM_153717 EVC Silent exm385987 4 5811263 [A/G] NM_153717 EVC EXON Missense_I903V exm385996 4 5812152 [A/G] NM_153717 EVC EXON Missense_G957R exm2275726 4 5812717 [A/G] NM_153717 EVC EXON Missense_D978N rs6813104 4 5816938 [T/C] exm386010 4 5823570 [T/G] NM_001313,NM_001014809 CRMP1,CRMP1 EXON Missense_I546L,Missense_I660L rs3774883 4 5826597 [A/G] NM_001313,NM_001014809 CRMP1,CRMP1 Silent,Silent exm386023 4 5830233 [T/C] NM_001313,NM_001014809 CRMP1,CRMP1 EXON Missense_V482I,Missense_V596I exm386026 4 5830260 [T/C] NM_001313,NM_001014809 CRMP1,CRMP1 EXON Missense_A473T,Missense_A587T exm386030 4 5830284 [T/C] NM_001313,NM_001014809 CRMP1,CRMP1 EXON Missense_M465V,Missense_M579V exm386031 4 5830296 [T/C] NM_001313,NM_001014809 CRMP1,CRMP1 EXON Missense_V461I,Missense_V575I exm386032 4 5830352 [A/G] NM_001313,NM_001014809 CRMP1,CRMP1 EXON Missense_S442F,Missense_S556F rs16837714 4 5831665 [T/C] NM_001313,NM_001014809 CRMP1,CRMP1 Silent,Silent rs11723228 4 5833625 [A/G] NM_001313,NM_001014809 CRMP1,CRMP1 Silent,Silent rs3821937 4 5837325 [T/C] NM_001313,NM_001014809 CRMP1,CRMP1 Silent,Silent variant.80040 4 5837642 [T/C] NM_001313,NM_001014809 CRMP1,CRMP1 EXON Synonymous_S427S,Synonymous_S541S rs7654446 4 5838837 [A/G] NM_001313,NM_001014809 CRMP1,CRMP1 Silent,Silent exm386064 4 5843038 [T/C] NM_001313,NM_001014809 CRMP1,CRMP1 EXON Missense_K270E,Missense_K384E rs2286280 4 5843328 [T/C] NM_001313,NM_001014809 CRMP1,CRMP1 Silent,Silent exm386079 4 5844865 [T/C] NM_001313,NM_001014809 CRMP1,CRMP1 EXON Missense_M215I,Missense_M329I rs1979427 4 5847493 [A/C] NM_001313,NM_001014809 CRMP1,CRMP1 Silent,Silent rs3885409 4 5848928 [A/G] NM_001313,NM_001014809 CRMP1,CRMP1 Silent,Silent rs11945849 4 5850343 [A/G] NM_001313,NM_001014809 CRMP1,CRMP1 Silent,Silent rs2276877 4 5851343 [T/C] NM_001313,NM_001014809 CRMP1,CRMP1 Silent,Silent exm386084 4 5853194 [T/C] NM_001313,NM_001014809 CRMP1,CRMP1 EXON Missense_V161I,Missense_V275I exm386090 4 5857909 [G/C] NM_001313,NM_001014809 CRMP1,CRMP1 EXON Missense_G147R,Missense_G261R rs7356507 4 5860906 [A/G] NM_001313,NM_001014809 CRMP1,CRMP1 Silent,Silent rs6838020 4 5866819 [A/G] NM_001313,NM_001014809 CRMP1,CRMP1 Silent,Silent var_4_5868477 4 5868477 [A/G] NM_001313,NM_001014809 CRMP1,CRMP1 EXON Nonsense_R16X,Nonsense_R130X rs3774893 4 5887388 [A/C] NM_001313,NM_001014809 CRMP1,CRMP1 Silent,Silent rs10004248 4 5895798 [T/G] rs4456913 4 5901291 [T/C] rs4425309 4 5924289 [A/C] rs7675169 4 5926551 [A/C] rs6840908 4 5931208 [T/C] rs10937695 4 5932608 [A/C] rs11945109 4 5936875 [T/G] rs4539987 4 5939053 [A/G] rs16837872 4 5941155 [A/G] rs17694785 4 5943692 [T/C] rs9684740 4 5948793 [A/G] rs7680750 4 5955591 [A/G] rs6446414 4 5964345 [T/C] rs6839295 4 5966801 [T/C] rs16837960 4 5975538 [A/G] rs4689290 4 5977553 [T/C] rs11941221 4 5981004 [A/G] rs6821688 4 5982108 [T/C] rs10014397 4 5988237 [A/G] rs16838017 4 5995255 [T/G] rs7657266 4 6002830 [A/C] rs6838861 4 6018866 [A/C] rs4689318 4 6018891 [T/C] exm2256663 4 6020190 [A/G] rs878948 4 6024426 [T/C] rs13119847 4 6026877 [A/C] rs10026454 4 6032456 [A/G] NM_001099433 JAKMIP1 Silent exm2256664 4 6055813 [T/C] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 EXON Synonymous_Q590Q,Synonymous_Q590Q rs16838131 4 6058497 [A/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 Silent,Silent rs16838138 4 6058701 [A/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 Silent,Silent rs6842183 4 6072923 [T/C] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 Silent,Silent exm386263 4 6080710 [A/C] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 EXON Missense_L420V,Missense_L420V exm386268 4 6081975 [A/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 EXON Missense_T389M,Missense_T389M exm386271 4 6082017 [A/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 EXON Missense_A375V,Missense_A375V exm386274 4 6083353 [A/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 EXON Missense_R362W,Missense_R362W rs4689333 4 6085431 [A/C] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 Silent,Silent exm386284 4 6086635 [T/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 EXON Missense_N298H,Missense_N298H rs12507895 4 6104378 [T/C] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 Silent,Silent rs7673767 4 6109614 [A/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 Silent,Silent exm386320 4 6114531 [A/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 EXON Missense_T16M,Missense_T16M exm386321 4 6114573 [A/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 EXON Missense_S2L,Missense_S2L rs11732318 4 6122058 [A/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 Silent,Silent rs4516797 4 6135717 [A/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 Silent,Silent rs13115520 4 6139210 [T/C] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 Silent,Silent rs4398594 4 6151065 [A/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 Silent,Silent rs6446469 4 6168155 [A/G] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 Silent,Silent rs4689355 4 6177135 [T/C] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 Silent,Silent rs10470721 4 6195962 [T/C] NM_001099433,NM_144720 JAKMIP1,JAKMIP1 Silent,Silent rs4274923 4 6213622 [A/G] NR_037863 LOC285484 Silent rs6858345 4 6218099 [T/G] NR_037863 LOC285484 Silent rs908017 4 6221614 [T/G] NR_037863 LOC285484 Silent rs7376535 4 6236514 [A/G] rs9993703 4 6256489 [A/C] exm-rs4689388 4 6270056 [A/G] rs10002743 4 6276581 [A/G] NM_006005,NM_001145853 WFS1,WFS1 Silent,Silent exm386326 4 6279223 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_Q14R,Missense_Q14R exm386331 4 6279300 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R40G,Missense_R40G exm2241150 4 6279393 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R71W,Missense_R71W exm386337 4 6279409 [T/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_G76V,Missense_G76V rs10001190 4 6284633 [A/G] NM_006005,NM_001145853 WFS1,WFS1 Silent,Silent exm2241153 4 6290741 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_G115S,Missense_G115S exm386346 4 6290751 [A/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_D118A,Missense_D118A exm386348 4 6290774 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A126T,Missense_A126T exm386350 4 6290798 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A134T,Missense_A134T exm386354 4 6290847 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A150V,Missense_A150V rs10010131 4 6292915 [A/G] NM_006005,NM_001145853 WFS1,WFS1 Silent,Silent exm386360 4 6292945 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R161Q,Missense_R161Q exm386369 4 6293040 [A/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_K193Q,Missense_K193Q exm386383 4 6293703 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_E231K,Missense_E231K exm386389 4 6296783 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A243V,Missense_A243V exm386394 4 6296854 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_D267N,Missense_D267N exm386399 4 6296872 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_E273K,Missense_E273K exm386401 4 6296897 [A/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_D281A,Missense_D281A exm386402 4 6296909 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R285H,Missense_R285H rs4481292 4 6298375 [T/C] NM_006005,NM_001145853 WFS1,WFS1 Silent,Silent rs3821943 4 6299940 [T/C] NM_006005,NM_001145853 WFS1,WFS1 Silent,Silent exm386408 4 6302439 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_M306T,Missense_M306T exm2241156 4 6302456 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_M312V,Missense_M312V exm386420 4 6302519 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_V333I,Missense_V333I rs1801212 4 6302519 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_V333I,Missense_V333I exm386422 4 6302546 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A342T,Missense_A342T variant.80065 4 6302559 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_P346L,Missense_P346L exm386427 4 6302601 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_C360Y,Missense_C360Y variant.80066 4 6302618 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Nonsense_Q366X,Nonsense_Q366X exm386436 4 6302675 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_E385K,Missense_E385K exm2256672 4 6302695 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Synonymous_E391E,Synonymous_E391E exm2076922 4 6302756 [G/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_V412L,Missense_V412L exm386447 4 6302757 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_V412A,Missense_V412A exm386450 4 6302787 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A422V,Missense_A422V exm386453 4 6302799 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_C426Y,Missense_C426Y exm386456 4 6302816 [G/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_L432V,Missense_L432V exm386458 4 6302819 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A433T,Missense_A433T exm2275727 4 6302831 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_G437S,Missense_G437S exm386463 4 6302843 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_V441M,Missense_V441M exm386466 4 6302886 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_T455M,Missense_T455M exm386467 4 6302888 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R456C,Missense_R456C exm386468 4 6302889 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R456H,Missense_R456H exm386489 4 6303017 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_L499F,Missense_L499F exm-rs1801214 4 6303022 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Synonymous_N500N,Synonymous_N500N exm386495 4 6303072 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R517H,Missense_R517H exm386500 4 6303119 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_P533S,Missense_P533S exm386505 4 6303155 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_V545M,Missense_V545M exm386510 4 6303197 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A559T,Missense_A559T exm386528 4 6303282 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R587Q,Missense_R587Q exm386530 4 6303301 [C/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_E593D,Missense_E593D exm386533 4 6303314 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A598T,Missense_A598T exm386537 4 6303327 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A602V,Missense_A602V exm386540 4 6303353 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R611C,Missense_R611C exm386541 4 6303354 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R611H,Missense_R611H exm386557 4 6303479 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R653C,Missense_R653C exm386565 4 6303542 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_G674R,Missense_G674R exm386566 4 6303548 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R676C,Missense_R676C exm386570 4 6303561 [A/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_E680A,Missense_E680A exm386573 4 6303576 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R685H,Missense_R685H exm2273999 4 6303629 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R703C,Missense_R703C exm386585 4 6303680 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_I720V,Missense_I720V exm386593 4 6303717 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R732H,Missense_R732H exm386598 4 6303731 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_E737K,Missense_E737K exm386600 4 6303755 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_G745S,Missense_G745S exm2076940 4 6303776 [T/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Nonsense_E752X,Nonsense_E752X exm386604 4 6303788 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R756C,Missense_R756C exm386606 4 6303836 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R772C,Missense_R772C exm386608 4 6303849 [T/A] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_E776V,Missense_E776V exm386609 4 6303857 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_V779M,Missense_V779M exm386610 4 6303869 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_F783L,Missense_F783L exm386612 4 6303878 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_G786S,Missense_G786S exm386626 4 6303974 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R818C,Missense_R818C exm386631 4 6304016 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R832C,Missense_R832C exm386636 4 6304085 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_S855P,Missense_S855P exm386641 4 6304118 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_D866N,Missense_D866N exm386642 4 6304124 [T/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_R868C,Missense_R868C exm386645 4 6304133 [A/G] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_V871M,Missense_V871M exm386646 4 6304143 [G/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_A874G,Missense_A874G exm386649 4 6304149 [A/C] NM_006005,NM_001145853 WFS1,WFS1 EXON Missense_K876T,Missense_K876T rs10804976 4 6315954 [T/G] rs3796403 4 6325086 [A/G] NM_001206996,NM_001206995,NM_001206994,NM_181876 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C EXON Synonymous_I412I,Synonymous_I422I,Synonymous_I422I,Synonymous_I429I exm2076954 4 6325177 [T/C] NM_001206996,NM_001206995,NM_001206994,NM_181876 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C EXON Missense_R382H,Missense_R392H,Missense_R392H,Missense_R399H exm386676 4 6325320 [A/G] NM_001206996,NM_001206995,NM_001206994,NM_181876 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C EXON Synonymous_S334S,Synonymous_S344S,Synonymous_S344S,Synonymous_S351S rs4689404 4 6333126 [T/C] NM_001206996,NM_001206995,NM_001206994,NM_181876 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent,Silent rs4689408 4 6342213 [T/C] NM_001206996,NM_001206995,NM_001206994,NM_181876 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent,Silent rs4386675 4 6351958 [A/G] NM_001206996,NM_001206995,NM_001206994,NM_181876 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent,Silent rs11730177 4 6356513 [A/G] NM_001206996,NM_001206995,NM_001206994,NM_181876 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent,Silent rs4689415 4 6361632 [T/C] NM_001206996,NM_001206995,NM_001206994,NM_181876 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent,Silent rs13124487 4 6364311 [A/G] NM_001206996,NM_001206995,NM_001206994,NM_181876 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent,Silent rs6446495 4 6376273 [T/C] NM_001206996,NM_001206995,NM_001206994,NM_181876 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent,Silent exm386712 4 6377569 [T/G] NM_001206996,NM_001206995,NM_001206994,NM_181876 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C EXON Missense_L125M,Missense_L135M,Missense_L135M,Missense_L142M exm386725 4 6383507 [A/G] NM_001206996,NM_001206995,NM_001206994,NM_181876 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C EXON Silent,Silent,Silent,Missense_P23S exm386726 4 6383518 [A/G] NM_001206996,NM_001206995,NM_001206994,NM_181876 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C EXON Silent,Silent,Silent,Missense_A19V exm386727 4 6383520 [T/C] NM_001206996,NM_001206995,NM_001206994,NM_181876 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C EXON Silent,Silent,Silent,Nonsense_W18X exm386728 4 6383527 [T/G] NM_001206996,NM_001206995,NM_001206994,NM_181876 PPP2R2C,PPP2R2C,PPP2R2C,PPP2R2C EXON Silent,Silent,Silent,Missense_Q16P rs6851340 4 6384823 [T/C] NM_001206996,NM_001206995,NM_001206994 PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent rs4270639 4 6391735 [A/G] NM_001206996,NM_001206995,NM_001206994 PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent rs2240268 4 6392342 [T/C] NM_001206996,NM_001206995,NM_001206994 PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent rs2240264 4 6392879 [T/C] NM_001206996,NM_001206995,NM_001206994 PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent rs7671165 4 6401102 [T/C] NM_001206996,NM_001206995,NM_001206994 PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent rs7655407 4 6404531 [A/G] NM_001206996,NM_001206995,NM_001206994 PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent rs7377185 4 6407801 [T/C] NM_001206996,NM_001206995,NM_001206994 PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent rs6853134 4 6410449 [A/G] NM_001206996,NM_001206995,NM_001206994 PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent rs7434469 4 6410746 [T/C] NM_001206996,NM_001206995,NM_001206994 PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent rs11724328 4 6416437 [A/G] NM_001206996,NM_001206995,NM_001206994 PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent rs7658616 4 6417028 [A/G] NM_001206996,NM_001206995,NM_001206994 PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent rs16838780 4 6417785 [T/C] NM_001206996,NM_001206995,NM_001206994 PPP2R2C,PPP2R2C,PPP2R2C Silent,Silent,Silent rs11734695 4 6423060 [A/C] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs4469149 4 6427757 [T/C] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs4689443 4 6429992 [A/G] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs11724762 4 6433905 [T/C] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs16838840 4 6439143 [A/C] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs17722973 4 6441415 [A/G] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs9291117 4 6447607 [A/G] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs17779675 4 6449514 [T/C] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs16838853 4 6450950 [A/G] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs12500979 4 6454012 [T/C] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs10029948 4 6454335 [T/C] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs4404624 4 6460539 [A/G] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs872883 4 6464547 [T/G] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs7664714 4 6465791 [T/C] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs7664961 4 6465928 [T/C] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs10937735 4 6471246 [A/G] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs11938118 4 6480469 [A/G] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs4331842 4 6481781 [T/C] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs13117055 4 6487726 [T/C] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs7654321 4 6499037 [A/G] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs4689469 4 6507841 [A/C] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs10937739 4 6509412 [T/C] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs4075006 4 6523276 [T/G] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs4075007 4 6523395 [A/G] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs6850064 4 6540153 [A/G] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs4689477 4 6541749 [A/C] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs10030485 4 6544606 [T/G] NM_001206995,NM_001206994 PPP2R2C,PPP2R2C Silent,Silent rs4380587 4 6558429 [T/C] NM_001206994 PPP2R2C Silent rs11731327 4 6560931 [A/G] NM_001206994 PPP2R2C Silent rs4689021 4 6570032 [T/C] rs11732212 4 6575960 [T/C] exm386735 4 6577023 [T/C] NM_015274 MAN2B2 EXON Missense_A29V exm386736 4 6577049 [A/G] NM_015274 MAN2B2 EXON Missense_D38N exm386738 4 6577074 [A/G] NM_015274 MAN2B2 EXON Missense_Q46R exm2275728 4 6578326 [A/G] NM_015274 MAN2B2 EXON Missense_A54T exm386746 4 6578407 [T/C] NM_015274 MAN2B2 EXON Missense_R81W variant.80103 4 6578437 [T/C] NM_015274 MAN2B2 EXON Nonsense_Q91X exm386754 4 6580124 [A/G] NM_015274 MAN2B2 EXON Missense_R97H exm386776 4 6588848 [A/G] NM_015274 MAN2B2 EXON Missense_G173S exm386777 4 6588852 [T/C] NM_015274 MAN2B2 EXON Missense_S174F exm386778 4 6588866 [A/G] NM_015274 MAN2B2 EXON Missense_D179N exm386784 4 6590835 [T/A] NM_015274 MAN2B2 EXON Missense_I210F rs6847759 4 6593117 [T/C] NM_015274 MAN2B2 Silent exm386801 4 6595052 [A/G] NM_015274 MAN2B2 EXON Missense_R278Q exm386807 4 6596307 [A/T] NM_015274 MAN2B2 EXON Missense_M302K exm386810 4 6596345 [A/G] NM_015274 MAN2B2 EXON Missense_E315K exm386812 4 6596360 [A/G] NM_015274 MAN2B2 EXON Missense_V320M exm386813 4 6596373 [T/C] NM_015274 MAN2B2 EXON Missense_T324M exm386815 4 6596385 [A/G] NM_015274 MAN2B2 EXON Missense_Y328C exm2265664 4 6598184 [A/G] NM_015274 MAN2B2 Silent exm386824 4 6598875 [T/C] NM_015274 MAN2B2 EXON Missense_R365C exm386827 4 6598944 [T/C] NM_015274 MAN2B2 EXON Missense_R388C exm386833 4 6599022 [A/G] NM_015274 MAN2B2 EXON Missense_V414I exm386834 4 6599928 [A/C] NM_015274 MAN2B2 EXON Missense_Q418K exm386836 4 6599998 [T/C] NM_015274 MAN2B2 EXON Missense_S441L rs2301790 4 6600012 [A/G] NM_015274 MAN2B2 EXON Missense_M446V exm386839 4 6600012 [A/G] NM_015274 MAN2B2 EXON Missense_M446V exm386840 4 6600015 [C/G] NM_015274 MAN2B2 EXON Missense_R447G exm386841 4 6600070 [T/C] NM_015274 MAN2B2 EXON Missense_A465V exm386845 4 6602356 [A/G] NM_015274 MAN2B2 EXON Missense_G471E exm386852 4 6602446 [A/G] NM_015274 MAN2B2 EXON Missense_R501H exm386864 4 6606941 [T/C] NM_015274 MAN2B2 EXON Missense_R567C exm2077135 4 6606957 [A/G] NM_015274 MAN2B2 EXON Missense_R572H exm386867 4 6607008 [T/C] NM_015274 MAN2B2 EXON Missense_I589T exm386871 4 6607046 [A/G] NM_015274 MAN2B2 EXON Missense_I602V exm386878 4 6610905 [T/G] NM_015274 MAN2B2 EXON Missense_G629V exm386879 4 6610918 [T/A] NM_015274 MAN2B2 EXON Missense_D633E exm2077138 4 6610935 [T/C] NM_015274 MAN2B2 EXON Missense_P639L exm386882 4 6610949 [A/G] NM_015274 MAN2B2 EXON Missense_V644M exm386887 4 6611009 [T/C] NM_015274 MAN2B2 EXON Missense_R664W exm386889 4 6611530 [T/C] NM_015274 MAN2B2 EXON Missense_M671T exm386890 4 6611540 [T/G] NM_015274 MAN2B2 EXON Missense_Q674H exm386891 4 6611544 [T/C] NM_015274 MAN2B2 EXON Missense_Y676H exm386892 4 6611560 [A/G] NM_015274 MAN2B2 EXON Missense_R681H exm386897 4 6611622 [G/C] NM_015274 MAN2B2 EXON Missense_Q702E exm386903 4 6611776 [A/G] NM_015274 MAN2B2 EXON Missense_R753Q exm2077146 4 6612676 [T/C] NM_015274 MAN2B2 EXON Missense_R777W exm386910 4 6612710 [A/G] NM_015274 MAN2B2 EXON Missense_Q788R exm386916 4 6612871 [T/C] NM_015274 MAN2B2 EXON Missense_T810M exm386921 4 6612946 [A/G] NM_015274 MAN2B2 EXON Missense_R835H exm386924 4 6612964 [T/C] NM_015274 MAN2B2 EXON Missense_A841V exm386927 4 6612981 [A/G] NM_015274 MAN2B2 EXON Missense_V847M exm386928 4 6615954 [A/C] NM_015274 MAN2B2 EXON Missense_P858Q exm386931 4 6615983 [A/G] NM_015274 MAN2B2 EXON Missense_A868T exm386936 4 6616037 [T/C] NM_015274 MAN2B2 EXON Missense_R886C exm386937 4 6616038 [A/G] NM_015274 MAN2B2 EXON Missense_R886H exm386938 4 6616056 [T/C] NM_015274 MAN2B2 EXON Missense_T892M exm386940 4 6616076 [T/C] NM_015274 MAN2B2 EXON Missense_R899W exm386941 4 6616077 [A/G] NM_015274 MAN2B2 EXON Missense_R899Q rs10049503 4 6616948 [T/C] NM_015274 MAN2B2 Silent exm386946 4 6619139 [T/C] NM_015274 MAN2B2 EXON Missense_R912C exm386947 4 6619152 [A/G] NM_015274 MAN2B2 EXON Missense_R916Q exm2256680 4 6619165 [A/G] NM_015274 MAN2B2 EXON Synonymous_L920L exm386961 4 6621751 [T/C] NM_015274 MAN2B2 EXON Missense_T971M exm2265818 4 6623332 [A/G] NM_015274 MAN2B2 EXON Silent rs9790604 4 6627084 [T/G] rs6446517 4 6640962 [A/C] exm386983 4 6642843 [T/C] NM_033296,NM_001272054,NM_001272053 MRFAP1,MRFAP1,MRFAP1 EXON Missense_P85L,Missense_P85L,Missense_P85L rs6810446 4 6650566 [A/C] rs4689498 4 6663319 [A/C] rs2285864 4 6670315 [T/C] rs4689506 4 6673462 [T/C] rs12500833 4 6688852 [T/C] exm386997 4 6695699 [A/G] NM_005980 S100P EXON Missense_V14I variant.80120 4 6695708 [T/C] NM_005980 S100P EXON Nonsense_R17X exm387003 4 6695739 [T/C] NM_005980 S100P EXON Missense_T27I rs3822262 4 6697766 [T/G] NM_005980 S100P Silent exm387006 4 6698641 [A/G] NM_005980 S100P EXON Missense_V54M exm2077248 4 6698663 [T/C] NM_005980 S100P EXON Missense_L61P exm387024 4 6711199 [T/G] NM_203462 MRFAP1L1 EXON Missense_T53N exm387027 4 6711260 [T/G] NM_203462 MRFAP1L1 EXON Missense_N33H exm387029 4 6711290 [T/C] NM_203462 MRFAP1L1 EXON Missense_D23N exm387030 4 6711295 [T/C] NM_203462 MRFAP1L1 EXON Missense_E21G exm387053 4 6718502 [T/C] NM_018366 BLOC1S4 EXON Missense_S189L rs3172604 4 6718775 [T/G] NM_018366 BLOC1S4 EXON Silent exm2273386 4 6718775 [T/G] NM_018366 BLOC1S4 EXON Silent rs16839178 4 6732660 [A/G] rs4393997 4 6733588 [A/G] rs4420983 4 6733659 [A/G] rs4689044 4 6734367 [A/G] rs4689534 4 6736751 [T/G] rs4689536 4 6738883 [T/C] rs4543114 4 6746425 [A/G] rs4302466 4 6755324 [A/G] rs7681358 4 6766870 [A/G] rs4689545 4 6767336 [T/C] rs4689547 4 6767551 [A/G] rs6824277 4 6777024 [T/C] rs4689552 4 6817928 [A/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 Silent,Silent exm387074 4 6826228 [G/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_S16R,Missense_S16R rs6833118 4 6833794 [T/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 Silent,Silent exm387080 4 6843931 [A/G] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Synonymous_E123E,Synonymous_E123E rs11723013 4 6854060 [T/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 Silent,Silent rs6845985 4 6855767 [A/G] NM_014743,NM_001100590 KIAA0232,KIAA0232 Silent,Silent exm387089 4 6862791 [G/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_E228Q,Missense_E228Q exm387106 4 6863215 [T/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_P369L,Missense_P369L exm387107 4 6863251 [T/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_T381I,Missense_T381I exm387110 4 6863288 [A/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_D393E,Missense_D393E exm2077454 4 6863490 [A/G] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_A461T,Missense_A461T exm387123 4 6863742 [A/G] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_T545A,Missense_T545A exm387128 4 6863846 [T/A] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_L579F,Missense_L579F exm387129 4 6863866 [A/G] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_N586S,Missense_N586S exm2077457 4 6864022 [T/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_I638T,Missense_I638T exm387136 4 6864162 [A/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_Q685K,Missense_Q685K exm387139 4 6864477 [T/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_S790P,Missense_S790P exm387143 4 6864510 [G/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_E801Q,Missense_E801Q exm387145 4 6864544 [A/G] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_N812S,Missense_N812S exm387146 4 6864556 [A/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_H816P,Missense_H816P indel.80123 4 6864638 [I/D] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON exm387149 4 6864690 [T/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_C861R,Missense_C861R variant.80124 4 6864768 [T/G] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Nonsense_E887X,Nonsense_E887X indel.80125 4 6864779 [D/I] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON exm387153 4 6864814 [A/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_E902A,Missense_E902A exm387154 4 6864815 [T/G] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_E902D,Missense_E902D exm387182 4 6865507 [T/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_A1133V,Missense_A1133V exm387184 4 6865521 [T/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_P1138S,Missense_P1138S exm387190 4 6865797 [T/G] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_C1230G,Missense_C1230G rs10022837 4 6868452 [T/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 Silent,Silent rs13115900 4 6876569 [A/G] NM_014743,NM_001100590 KIAA0232,KIAA0232 Silent,Silent exm387194 4 6878465 [A/G] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_R1330H,Missense_R1330H exm387195 4 6882548 [A/G] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_E1348G,Missense_E1348G exm387196 4 6882580 [T/C] NM_014743,NM_001100590 KIAA0232,KIAA0232 EXON Missense_R1359C,Missense_R1359C rs10001636 4 6886830 [A/G] rs7675928 4 6890937 [T/C] rs11734132 4 6891519 [G/C] rs10937762 4 6918679 [A/G] NM_001113361,NM_020773 TBC1D14,TBC1D14 Silent,Silent rs6446552 4 6924241 [A/G] NM_001113361,NM_020773 TBC1D14,TBC1D14 Silent,Silent exm387210 4 6925198 [C/G] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_Q28E,Missense_Q28E exm387216 4 6925237 [G/C] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_L41V,Missense_L41V exm387221 4 6925270 [T/C] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_L52F,Missense_L52F exm387228 4 6925369 [T/C] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_H85Y,Missense_H85Y exm387240 4 6925490 [A/G] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_R125H,Missense_R125H exm387248 4 6925553 [A/G] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_K146R,Missense_K146R exm387254 4 6925591 [A/G] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_V159M,Missense_V159M exm387258 4 6925654 [G/C] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_L180V,Missense_L180V exm387264 4 6925738 [A/G] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_I208V,Missense_I208V exm2077616 4 6925790 [A/T] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_E225V,Missense_E225V rs9291123 4 6937984 [T/C] NM_001113361,NM_020773 TBC1D14,TBC1D14 Silent,Silent rs11732898 4 6956134 [T/C] NM_001113361,NM_020773 TBC1D14,TBC1D14 Silent,Silent rs41410847 4 6957332 [A/G] NM_001113361,NM_020773 TBC1D14,TBC1D14 Silent,Silent exm387267 4 6969075 [A/G] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_N256S,Missense_N256S exm387269 4 6969090 [A/G] NM_001113361,NM_020773 TBC1D14,TBC1D14 EXON Missense_K261R,Missense_K261R rs10015163 4 6983677 [T/C] NM_001113361,NM_020773 TBC1D14,TBC1D14 Silent,Silent rs3892490 4 6996129 [A/G] NM_001113361,NM_020773,NM_001113363 TBC1D14,TBC1D14,TBC1D14 Silent,Silent,Silent rs17742611 4 7002344 [A/G] NM_001113361,NM_020773,NM_001113363 TBC1D14,TBC1D14,TBC1D14 Silent,Silent,Silent exm387281 4 7002872 [A/G] NM_001113361,NM_020773,NM_001113363 TBC1D14,TBC1D14,TBC1D14 EXON Missense_M388I,Missense_M388I,Missense_M108I exm2241213 4 7006607 [A/G] NM_001113361,NM_020773,NM_001113363 TBC1D14,TBC1D14,TBC1D14 EXON Missense_R436K,Missense_R436K,Missense_R156K exm387288 4 7006636 [G/C] NM_001113361,NM_020773,NM_001113363 TBC1D14,TBC1D14,TBC1D14 EXON Missense_E446Q,Missense_E446Q,Missense_E166Q exm387289 4 7008380 [A/G] NM_001113361,NM_020773,NM_001113363 TBC1D14,TBC1D14,TBC1D14 EXON Missense_D458G,Missense_D458G,Missense_D178G variant.80130 4 7016289 [T/G] NM_001113361,NM_020773,NM_001113363 TBC1D14,TBC1D14,TBC1D14 Silent,Silent,Silent rs12650264 4 7021365 [A/G] NM_001113361,NM_020773,NM_001113363 TBC1D14,TBC1D14,TBC1D14 Silent,Silent,Silent rs10516182 4 7025909 [T/C] NM_001113361,NM_020773,NM_001113363 TBC1D14,TBC1D14,TBC1D14 Silent,Silent,Silent rs6834102 4 7027041 [T/C] NM_001113361,NM_020773,NM_001113363 TBC1D14,TBC1D14,TBC1D14 Silent,Silent,Silent rs10937779 4 7039326 [A/G] NR_033828 LOC100129931 Silent rs3857176 4 7039345 [A/C] NR_033828 LOC100129931 Silent exm387327 4 7043099 [A/G] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Missense_R523W exm387336 4 7043350 [A/C] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Missense_S439I exm387342 4 7043546 [G/C] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Missense_A374P exm387344 4 7043594 [T/C] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Missense_V358M exm387347 4 7043778 [G/C] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Missense_K296N exm387349 4 7043795 [A/G] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Synonymous_L291L exm2256698 4 7043795 [A/G] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Synonymous_L291L exm387350 4 7043830 [T/C] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Missense_E279G exm2077923 4 7043945 [T/G] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Missense_R241S exm2077926 4 7044006 [A/C] NR_033828,NM_153376 LOC100129931,CCDC96 EXON Silent,Missense_Q220H rs10937780 4 7048842 [A/G] NM_152293 TADA2B Silent exm387387 4 7055802 [C/G] NM_152293 TADA2B EXON Missense_A95G exm387391 4 7055910 [A/G] NM_152293 TADA2B EXON Missense_R131H rs3796908 4 7061378 [A/G] exm387421 4 7062677 [T/C] NM_025196 GRPEL1 EXON Missense_G189D exm387423 4 7062707 [T/A] NM_025196 GRPEL1 EXON Missense_F179Y exm387426 4 7062786 [T/C] NM_025196 GRPEL1 EXON Missense_K153E exm387431 4 7062894 [T/C] NM_025196 GRPEL1 EXON Missense_V117I exm387436 4 7064113 [A/G] NM_025196 GRPEL1 EXON Synonymous_Y102Y exm387437 4 7064126 [T/G] NM_025196 GRPEL1 EXON Missense_E98A exm387447 4 7069729 [A/G] NM_025196 GRPEL1 EXON Missense_R11C rs3822270 4 7069804 [A/C] rs6446566 4 7086930 [T/G] rs12642809 4 7097498 [A/G] rs4689599 4 7102597 [T/C] NR_027441 FLJ36777 Silent rs4082846 4 7112676 [T/G] rs7378101 4 7113986 [A/G] rs10027697 4 7126063 [A/G] rs10155062 4 7133905 [A/G] rs10804992 4 7135912 [T/C] rs7687509 4 7142868 [A/G] rs3857190 4 7142970 [T/C] rs4689071 4 7146033 [T/C] rs6814125 4 7149407 [A/C] rs6836687 4 7151812 [A/G] rs12505331 4 7163426 [T/C] rs4689620 4 7165415 [A/G] rs9991298 4 7170562 [T/C] rs9999241 4 7174993 [A/G] rs7692512 4 7183984 [A/G] rs6851506 4 7184370 [A/G] rs10017600 4 7186257 [A/G] rs4689626 4 7190015 [T/G] rs3815181 4 7204493 [T/C] NM_020777 SORCS2 Silent rs951449 4 7206401 [T/C] NM_020777 SORCS2 Silent rs10937790 4 7208680 [T/C] NM_020777 SORCS2 Silent rs4689637 4 7211197 [A/G] NM_020777 SORCS2 Silent rs4689642 4 7215322 [A/G] NM_020777 SORCS2 Silent rs12152570 4 7218072 [T/C] NM_020777 SORCS2 Silent rs4234797 4 7219907 [A/G] NM_020777 SORCS2 Silent exm-rs4234798 4 7219933 [T/G] NM_020777 SORCS2 Silent rs16839840 4 7220548 [T/C] NM_020777 SORCS2 Silent rs12646898 4 7221071 [A/G] NM_020777 SORCS2 Silent rs4689090 4 7226751 [T/G] NM_020777 SORCS2 Silent rs4689093 4 7239621 [T/C] NM_020777 SORCS2 Silent rs11931042 4 7241780 [T/C] NM_020777 SORCS2 Silent rs2008103 4 7250232 [A/C] NM_020777 SORCS2 Silent rs9291133 4 7256620 [T/C] NM_020777 SORCS2 Silent rs7686843 4 7257160 [T/C] NM_020777 SORCS2 Silent exm2261751 4 7266856 [T/G] NM_020777 SORCS2 Silent rs6446590 4 7271603 [T/G] NM_020777 SORCS2 Silent rs4689677 4 7280033 [A/G] NM_020777 SORCS2 Silent rs6814708 4 7280324 [T/C] NM_020777 SORCS2 Silent rs17755381 4 7282506 [A/G] NM_020777 SORCS2 Silent rs3857193 4 7288703 [A/C] NM_020777 SORCS2 Silent rs3846424 4 7292894 [T/C] NM_020777 SORCS2 Silent rs4689687 4 7304566 [A/G] NM_020777 SORCS2 Silent rs3846427 4 7310976 [T/C] NM_020777 SORCS2 Silent rs3930439 4 7312054 [A/C] NM_020777 SORCS2 Silent rs10446501 4 7315904 [A/G] NM_020777 SORCS2 Silent rs3916118 4 7321511 [T/G] NM_020777 SORCS2 Silent rs1104939 4 7322423 [A/G] NM_020777 SORCS2 Silent rs4689707 4 7326199 [T/C] NM_020777 SORCS2 Silent rs3892224 4 7330107 [T/C] NM_020777 SORCS2 Silent rs16840053 4 7330676 [A/G] NM_020777 SORCS2 Silent rs16840065 4 7335948 [T/C] NM_020777 SORCS2 Silent rs10005640 4 7339378 [A/G] NM_020777 SORCS2 Silent rs10011842 4 7341243 [A/G] NM_020777 SORCS2 Silent rs13105398 4 7347203 [T/C] NM_020777 SORCS2 Silent rs11734491 4 7350677 [A/G] NM_020777 SORCS2 Silent rs7681365 4 7352477 [T/C] NM_020777 SORCS2 Silent rs2878610 4 7373836 [T/C] NM_020777 SORCS2 Silent rs3864210 4 7376694 [T/C] NM_020777 SORCS2 Silent rs3905843 4 7385168 [T/C] NM_020777 SORCS2 Silent rs4689719 4 7390415 [T/C] NM_020777 SORCS2 Silent rs6851949 4 7393898 [A/G] NM_020777 SORCS2 Silent exm387460 4 7398031 [T/C] NM_020777 SORCS2 EXON Missense_T166M rs9994834 4 7399054 [A/C] NM_020777 SORCS2 Silent rs9997426 4 7399225 [T/C] NM_020777 SORCS2 Silent rs4689728 4 7404127 [A/C] NM_020777 SORCS2 Silent rs4558873 4 7415038 [A/G] NM_020777 SORCS2 Silent rs6837589 4 7419276 [T/C] NM_020777 SORCS2 Silent rs7682286 4 7420575 [A/G] NM_020777 SORCS2 Silent rs7660356 4 7422453 [A/G] NM_020777 SORCS2 Silent rs9999662 4 7424945 [A/C] NM_020777 SORCS2 Silent rs4458454 4 7431266 [A/C] NM_020777 SORCS2 Silent rs6849590 4 7432577 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Silent rs10033032 4 7434017 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Silent exm387464 4 7435058 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A517T exm387475 4 7435178 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Synonymous_L477L exm2256717 4 7435179 [A/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Synonymous_L476L exm387484 4 7435244 [C/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_D455H exm387485 4 7435258 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_I450T exm387499 4 7435441 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A389V exm387503 4 7435486 [T/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A374E exm387506 4 7435516 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_R364H rs6850206 4 7435721 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_V296M exm387516 4 7435721 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_V296M exm387518 4 7435754 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_E285K exm387523 4 7435805 [A/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A268S exm387527 4 7435823 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_R262C exm387528 4 7435825 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A261V exm387532 4 7435886 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_L241F exm387533 4 7435887 [C/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_R240S exm387537 4 7435943 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_V222I exm2256718 4 7435968 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Synonymous_C213C exm387541 4 7436011 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_R199Q exm387545 4 7436080 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_R176H exm2078818 4 7436126 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A161T exm387548 4 7436182 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_P142L exm387553 4 7436294 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A105T exm387554 4 7436312 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_P99S exm2078823 4 7436362 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A82V exm387558 4 7436363 [T/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A82T exm2256719 4 7436415 [A/G] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Synonymous_C64C exm387571 4 7436486 [A/C] NM_020777,NM_001085382 SORCS2,PSAPL1 EXON Silent,Missense_A41S rs13117409 4 7440206 [A/G] NM_020777 SORCS2 Silent rs4234805 4 7441323 [T/C] NM_020777 SORCS2 Silent rs4443286 4 7448581 [T/C] NM_020777 SORCS2 Silent rs4380522 4 7460789 [T/C] NM_020777 SORCS2 Silent rs7654086 4 7465277 [T/C] NM_020777 SORCS2 Silent rs4613570 4 7466980 [A/G] NM_020777 SORCS2 Silent rs4689126 4 7467316 [T/C] NM_020777 SORCS2 Silent rs4495038 4 7473205 [T/C] NM_020777 SORCS2 Silent rs7683874 4 7475424 [A/G] NM_020777 SORCS2 Silent rs16840358 4 7478631 [T/C] NM_020777 SORCS2 Silent rs13353636 4 7481564 [A/C] NM_020777 SORCS2 Silent rs10937826 4 7489829 [T/G] NM_020777 SORCS2 Silent rs11730684 4 7490500 [A/C] NM_020777 SORCS2 Silent rs10032900 4 7491757 [A/G] NM_020777 SORCS2 Silent rs6820154 4 7492414 [T/G] NM_020777 SORCS2 Silent rs4689131 4 7496857 [A/G] NM_020777 SORCS2 Silent rs9647418 4 7498864 [A/G] NM_020777 SORCS2 Silent rs4689767 4 7508446 [A/G] NM_020777 SORCS2 Silent rs13128906 4 7513983 [A/G] NM_020777 SORCS2 Silent rs4689773 4 7522239 [T/C] NM_020777 SORCS2 Silent rs4429728 4 7529367 [T/C] NM_020777 SORCS2 Silent rs6812745 4 7534603 [A/G] NM_020777 SORCS2 Silent rs882266 4 7551651 [A/G] NM_020777 SORCS2 Silent rs4290892 4 7565734 [T/C] NM_020777 SORCS2 Silent rs10012347 4 7584767 [T/C] NM_020777 SORCS2 Silent rs4689789 4 7588936 [T/C] NM_020777 SORCS2 Silent rs11933482 4 7597712 [A/G] NM_020777 SORCS2 Silent rs7667970 4 7600936 [A/G] NM_020777 SORCS2 Silent rs12503735 4 7607924 [T/C] NM_020777 SORCS2 Silent rs16840670 4 7615377 [A/G] NM_020777 SORCS2 Silent exm2265665 4 7624478 [A/G] NM_020777 SORCS2 Silent rs4689808 4 7632223 [A/G] NM_020777 SORCS2 Silent rs4689148 4 7637297 [T/C] NM_020777 SORCS2 Silent exm387599 4 7666160 [A/G] NM_020777 SORCS2 EXON Missense_G345R exm387601 4 7666170 [T/C] NM_020777 SORCS2 EXON Missense_T348I exm387603 4 7666180 [A/C] NM_020777 SORCS2 EXON Missense_D351E variant.80144 4 7666198 [A/G] NM_020777 SORCS2 EXON Synonymous_K357K variant.80145 4 7668849 [A/G] NM_020777 SORCS2 Silent rs7697323 4 7683417 [A/G] NM_020777 SORCS2 Silent indel.80146 4 7684544 [D/I] NM_020777 SORCS2 EXON exm387633 4 7684552 [A/G] NM_020777 SORCS2 EXON Missense_R475H exm387636 4 7684579 [T/G] NM_020777 SORCS2 EXON Missense_S484I rs4689820 4 7684641 [A/C] NM_020777 SORCS2 Silent rs2079169 4 7685529 [A/G] NM_020777 SORCS2 Silent rs2884743 4 7685801 [T/C] NM_020777 SORCS2 Silent rs886378 4 7689152 [A/C] NM_020777 SORCS2 Silent exm387642 4 7691291 [A/G] NM_020777 SORCS2 EXON Missense_A523T rs10023670 4 7694472 [T/C] NM_020777 SORCS2 Silent rs2057723 4 7698316 [A/G] NM_020777 SORCS2 Silent exm387645 4 7698969 [A/G] NM_020777 SORCS2 EXON Missense_I546V exm387650 4 7705923 [G/C] NM_020777 SORCS2 EXON Missense_L594V exm387652 4 7705957 [T/C] NM_020777 SORCS2 EXON Missense_S605L exm387654 4 7705999 [T/C] NM_020777 SORCS2 EXON Missense_T619M rs4689830 4 7708889 [A/C] NM_020777 SORCS2 Silent rs2359610 4 7712266 [T/C] NM_020777 SORCS2 Silent rs4689832 4 7714212 [A/G] NM_020777 SORCS2 Silent exm2275729 4 7715993 [A/G] NM_020777 SORCS2 EXON Synonymous_Q672Q exm387666 4 7716061 [T/C] NM_020777 SORCS2 EXON Missense_T695M exm387671 4 7716910 [T/C] NM_020777 SORCS2 EXON Synonymous_C708C exm387672 4 7716913 [G/C] NM_020777 SORCS2 EXON Missense_D709E exm387675 4 7716932 [T/C] NM_020777 SORCS2 EXON Missense_S716P exm387677 4 7716992 [T/C] NM_020777 SORCS2 EXON Missense_P736S exm387681 4 7717020 [T/C] NM_020777 SORCS2 EXON Missense_T745I rs16840900 4 7717629 [T/C] NM_020777 SORCS2 Silent exm2256732 4 7719745 [A/G] NM_020777 SORCS2 EXON Synonymous_R753R exm387683 4 7719745 [A/G] NM_020777 SORCS2 EXON Synonymous_R753R exm387684 4 7719795 [A/G] NM_020777 SORCS2 EXON Missense_Q770R exm387687 4 7719819 [T/C] NM_020777 SORCS2 EXON Missense_T778M exm387692 4 7719870 [A/G] NM_020777 SORCS2 EXON Missense_R795Q rs4689838 4 7720834 [T/C] NM_020777 SORCS2 Silent exm387713 4 7725608 [A/C] NM_020777 SORCS2 EXON Missense_N870T exm387719 4 7726982 [A/G] NM_020777 SORCS2 EXON Missense_V905I exm387725 4 7728553 [T/C] NM_020777 SORCS2 EXON Missense_T931M exm387727 4 7728561 [A/G] NM_020777 SORCS2 EXON Missense_V934M exm387731 4 7730137 [A/C] NM_020777 SORCS2 EXON Missense_T977N rs4689157 4 7730392 [A/G] NM_020777 SORCS2 Silent rs17466657 4 7730560 [A/G] NM_020777 SORCS2 Silent exm387743 4 7731429 [T/C] NM_020777 SORCS2 EXON Missense_S1033L rs6821770 4 7732805 [A/G] NM_020777 SORCS2 Silent rs12233824 4 7733843 [A/G] NM_020777 SORCS2 Silent exm387745 4 7735055 [C/G] NM_020777 SORCS2 EXON Missense_A1039P exm387746 4 7735058 [G/C] NM_020777 SORCS2 EXON Missense_A1040P exm387761 4 7741941 [A/G] NM_020777 SORCS2 EXON Missense_V1144M rs2359608 4 7746390 [A/G] rs17466832 4 7752091 [A/C] rs4689851 4 7752580 [A/G] rs11729332 4 7759804 [T/C] NR_026892 AFAP1-AS1 Silent rs2285764 4 7763161 [T/C] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Silent,Silent rs2240054 4 7765193 [A/G] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Silent,Silent exm2275332 4 7765492 [G/C] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_X815Y,Missense_X731Y exm387773 4 7770600 [A/T] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_C797S,Missense_C713S exm2079627 4 7770645 [T/C] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_A782T,Missense_A698T exm387778 4 7770660 [T/C] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_V777M,Missense_V693M rs2285761 4 7770723 [T/G] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Synonymous_R756R,Synonymous_R672R exm387800 4 7774681 [A/G] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_R707W,Missense_R623W exm387805 4 7774707 [T/C] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_K698R,Missense_K614R exm387807 4 7774722 [A/G] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_A693V,Missense_A609V exm387809 4 7776466 [T/C] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_G688S,Missense_G604S exm387813 4 7776580 [A/G] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_R650W,Missense_R566W rs4689859 4 7777057 [A/G] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Silent,Silent rs2269878 4 7780344 [A/G] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Silent,Silent exm2079646 4 7780490 [T/C] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Synonymous_S632S,Synonymous_S548S exm387814 4 7780497 [A/G] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_T630M,Missense_T546M exm387818 4 7780524 [A/G] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_A621V,Missense_A537V exm387823 4 7780582 [T/C] NR_026892,NM_001134647,NM_198595 AFAP1-AS1,AFAP1,AFAP1 EXON Silent,Missense_V602M,Missense_V518M exm387833 4 7783273 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 EXON Missense_D538N,Silent rs877707 4 7792662 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent rs10022249 4 7794001 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent exm2241309 4 7795447 [A/G] NM_001134647,NM_198595 AFAP1,AFAP1 EXON Missense_M458T,Missense_M458T rs9683795 4 7800345 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent rs756255 4 7800699 [T/G] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent rs4689866 4 7801581 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent exm387862 4 7802206 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 EXON Missense_R410Q,Missense_R410Q exm387865 4 7802227 [C/G] NM_001134647,NM_198595 AFAP1,AFAP1 EXON Missense_S403C,Missense_S403C exm387867 4 7802257 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 EXON Missense_R393H,Missense_R393H exm387873 4 7802342 [A/G] NM_001134647,NM_198595 AFAP1,AFAP1 EXON Missense_R365C,Missense_R365C exm387875 4 7802347 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 EXON Missense_R363Q,Missense_R363Q rs7376483 4 7804265 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent exm387881 4 7811381 [G/C] NM_001134647,NM_198595 AFAP1,AFAP1 EXON Missense_D338E,Missense_D338E exm387883 4 7811466 [A/G] NM_001134647,NM_198595 AFAP1,AFAP1 EXON Missense_S310L,Missense_S310L rs4234831 4 7822186 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent rs7685914 4 7831463 [A/G] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent rs4296679 4 7840696 [A/C] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent exm387918 4 7845062 [A/G] NM_001134647,NM_198595 AFAP1,AFAP1 EXON Missense_A117V,Missense_A117V rs4619890 4 7853160 [A/G] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent rs4413405 4 7853361 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent exm387925 4 7857293 [G/C] NM_001134647,NM_198595 AFAP1,AFAP1 EXON Missense_D78E,Missense_D78E rs28738908 4 7865324 [T/G] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent rs7441783 4 7866500 [A/C] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent var_4_7870448 4 7870448 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent exm-rs7437940 4 7887500 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent rs7437940 4 7887500 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent rs17770177 4 7894887 [A/G] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent rs17770213 4 7896866 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent rs4478172 4 7902003 [A/C] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent rs6831381 4 7904431 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent rs12641498 4 7917574 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent rs1344223 4 7931635 [A/G] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent rs4696687 4 7939194 [T/C] NM_001134647,NM_198595 AFAP1,AFAP1 Silent,Silent rs2891926 4 7947266 [T/C] rs4696833 4 7951137 [T/C] rs7685634 4 7951542 [A/G] rs10023401 4 7953583 [T/C] rs6824093 4 7959029 [A/G] rs4696886 4 7967683 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Silent,Silent,Silent,Silent,Silent,Silent exm387950 4 7968803 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_E494K,Missense_E532K,Missense_E584K,Missense_E504K,Missense_E545K,Missense_E618K exm387952 4 7968820 [A/G] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_S488L,Missense_S526L,Missense_S578L,Missense_S498L,Missense_S539L,Missense_S612L rs1317285 4 7980298 [A/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent rs7699715 4 7980652 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent exm387956 4 7985047 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_V466I,Missense_V504I,Missense_V556I,Missense_V476I,Missense_V517I,Missense_V590I rs16841523 4 7985977 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent rs7677869 4 7986860 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent rs13129405 4 7992749 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent exm387976 4 7994594 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Silent,Missense_R474Q,Missense_R526Q,Silent,Silent,Missense_R560Q rs13125250 4 8010112 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16841559 4 8012167 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11932811 4 8020502 [A/G] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent var_4_8021340 4 8021340 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm388016 4 8022016 [A/G] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Silent,Silent,Missense_R395W,Silent,Missense_R395W,Missense_R428W,Silent rs6833644 4 8027403 [A/G] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm388037 4 8037944 [A/G] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_R327C,Missense_R327C,Missense_R327C,Missense_R327C,Missense_R327C,Missense_R327C,Missense_R327C rs6830813 4 8046433 [A/G] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2385916 4 8047973 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10029338 4 8050343 [A/G] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1320058 4 8060637 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4696669 4 8062202 [A/G] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent newrs6811028 4 8062689 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16841624 4 8062830 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6845573 4 8063501 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs13132381 4 8071136 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9991680 4 8072684 [A/G] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6826670 4 8080573 [T/G] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm388065 4 8082416 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_E190K,Missense_E190K,Missense_E190K,Missense_E190K,Missense_E190K,Missense_E190K,Missense_E190K exm388067 4 8082472 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_K171R,Missense_K171R,Missense_K171R,Missense_K171R,Missense_K171R,Missense_K171R,Missense_K171R rs2292739 4 8089598 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm388073 4 8089898 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_R151Q,Missense_R151Q,Missense_R151Q,Missense_R151Q,Missense_R151Q,Missense_R151Q,Missense_R151Q exm388076 4 8089932 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_V140M,Missense_V140M,Missense_V140M,Missense_V140M,Missense_V140M,Missense_V140M,Missense_V140M rs7674677 4 8097469 [A/G] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm388086 4 8098926 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_G80S,Missense_G80S,Missense_G80S,Missense_G80S,Missense_G80S,Missense_G80S,Missense_G80S rs12500841 4 8100171 [A/G] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.80158 4 8108221 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 EXON Missense_A52T,Missense_A52T,Missense_A52T,Missense_A52T,Missense_A52T,Missense_A52T,Missense_A52T rs1105616 4 8111117 [A/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2138826 4 8116202 [A/G] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2256744 4 8116782 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1125307 4 8117671 [A/G] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs13122226 4 8120120 [T/C] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11936149 4 8122496 [T/G] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4422405 4 8139958 [A/G] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7660199 4 8157710 [A/G] NM_032432,NM_001130086,NM_001130084,NM_001130087,NM_001130085,NM_001130083,NM_001130088 ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2,ABLIM2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4696775 4 8177264 [A/G] rs753386 4 8189780 [T/C] rs1298472 4 8202841 [A/G] NM_018986 SH3TC1 Silent rs7677412 4 8204854 [A/G] NM_018986 SH3TC1 Silent exm388103 4 8207058 [T/C] NM_018986 SH3TC1 EXON Missense_A46V rs922521 4 8207810 [T/C] NM_018986 SH3TC1 Silent rs1281132 4 8209383 [A/G] NM_018986 SH3TC1 Silent exm388129 4 8214511 [T/C] NM_018986 SH3TC1 EXON Missense_R111C exm388133 4 8214545 [A/G] NM_018986 SH3TC1 EXON Missense_R122H exm388134 4 8214553 [A/G] NM_018986 SH3TC1 EXON Missense_G125R exm388138 4 8216244 [T/C] NM_018986 SH3TC1 EXON Missense_R140W exm388144 4 8216307 [A/G] NM_018986 SH3TC1 EXON Missense_G161S exm388152 4 8217963 [A/G] NM_018986 SH3TC1 EXON Missense_E203K exm2080297 4 8218727 [A/G] NM_018986 SH3TC1 EXON Missense_M224I exm388160 4 8218737 [T/C] NM_018986 SH3TC1 EXON Missense_R228W exm388169 4 8218825 [T/C] NM_018986 SH3TC1 EXON Missense_P257L exm388170 4 8218840 [T/C] NM_018986 SH3TC1 EXON Missense_S262F exm388173 4 8218866 [A/G] NM_018986 SH3TC1 EXON Missense_A271T exm388175 4 8218870 [T/C] NM_018986 SH3TC1 EXON Missense_P272L exm388180 4 8220029 [A/G] NM_018986 SH3TC1 EXON Missense_D291N rs1298145 4 8220400 [A/G] NM_018986 SH3TC1 Silent exm388192 4 8221124 [T/C] NM_018986 SH3TC1 EXON Nonsense_R327X exm388201 4 8221220 [T/C] NM_018986 SH3TC1 EXON Missense_R359W rs7660416 4 8222157 [T/C] NM_018986 SH3TC1 Silent exm388207 4 8224651 [T/G] NM_018986 SH3TC1 EXON Missense_L399F exm2080317 4 8224665 [T/C] NM_018986 SH3TC1 EXON Missense_S404L rs1281142 4 8226488 [A/G] NM_018986 SH3TC1 Silent exm388224 4 8228731 [T/C] NM_018986 SH3TC1 EXON Missense_L437P exm388229 4 8228862 [A/G] NM_018986 SH3TC1 EXON Missense_E481K exm388234 4 8228979 [A/G] NM_018986 SH3TC1 EXON Missense_D520N exm388247 4 8229105 [T/C] NM_018986 SH3TC1 EXON Missense_L562F exm2080325 4 8229123 [A/C] NM_018986 SH3TC1 EXON Synonymous_R568R exm388248 4 8229140 [T/G] NM_018986 SH3TC1 EXON Missense_R573S exm388256 4 8229243 [A/G] NM_018986 SH3TC1 EXON Missense_A608T exm388257 4 8229270 [T/C] NM_018986 SH3TC1 EXON Missense_R617W exm388262 4 8229322 [T/C] NM_018986 SH3TC1 EXON Missense_T634M exm388264 4 8229349 [T/C] NM_018986 SH3TC1 EXON Missense_A643V exm388290 4 8229741 [T/G] NM_018986 SH3TC1 EXON Missense_A774S exm388296 4 8229817 [A/G] NM_018986 SH3TC1 EXON Missense_H799R exm388298 4 8229844 [T/C] NM_018986 SH3TC1 EXON Missense_F808S exm388299 4 8229850 [T/C] NM_018986 SH3TC1 EXON Missense_T810M exm388304 4 8229879 [A/G] NM_018986 SH3TC1 EXON Missense_G820R exm388306 4 8229927 [A/G] NM_018986 SH3TC1 EXON Missense_V836M exm388331 4 8230212 [T/C] NM_018986 SH3TC1 EXON Missense_R931W exm388336 4 8230245 [A/G] NM_018986 SH3TC1 EXON Missense_G942S exm388343 4 8230347 [A/G] NM_018986 SH3TC1 EXON Missense_A976T rs1281152 4 8230456 [T/G] NM_018986 SH3TC1 Silent rs3756193 4 8233341 [T/C] NM_018986 SH3TC1 Silent exm388359 4 8233882 [T/C] NM_018986 SH3TC1 EXON Missense_R1044W exm388360 4 8233883 [A/G] NM_018986 SH3TC1 EXON Missense_R1044Q variant.80172 4 8234133 [A/C] NM_018986 SH3TC1 Silent exm388369 4 8235127 [C/G] NM_018986 SH3TC1 EXON Missense_L1057V exm388372 4 8235160 [A/G] NM_018986 SH3TC1 EXON Missense_K1068E exm388376 4 8235184 [C/G] NM_018986 SH3TC1 EXON Missense_A1076P exm388377 4 8235208 [T/C] NM_018986 SH3TC1 EXON Missense_R1084W exm388378 4 8235209 [A/G] NM_018986 SH3TC1 EXON Missense_R1084Q exm388379 4 8235220 [A/C] NM_018986 SH3TC1 EXON Missense_L1088M exm388381 4 8235241 [A/G] NM_018986 SH3TC1 Silent exm388398 4 8238008 [T/C] NM_018986 SH3TC1 EXON Missense_R1137W exm388401 4 8238041 [T/C] NM_018986 SH3TC1 EXON Missense_R1148C exm388403 4 8238048 [T/C] NM_018986 SH3TC1 EXON Missense_A1150V exm388405 4 8238057 [A/G] NM_018986 SH3TC1 EXON Missense_R1153Q exm388408 4 8238090 [T/C] NM_018986 SH3TC1 EXON Missense_T1164M exm2256748 4 8239236 [T/C] NM_018986 SH3TC1 EXON Synonymous_L1198L exm388424 4 8239242 [A/G] NM_018986 SH3TC1 EXON Missense_A1200T exm388430 4 8239318 [T/C] NM_018986 SH3TC1 EXON Missense_P1225L exm388438 4 8239393 [T/C] NM_018986 SH3TC1 EXON Missense_L1250P exm388440 4 8242429 [T/C] NM_018986 SH3TC1 EXON Missense_P1253L exm388441 4 8242443 [A/G] NM_018986 SH3TC1 EXON Missense_G1258R exm388445 4 8242470 [A/G] NM_018986 SH3TC1 EXON Missense_A1267T exm388447 4 8242483 [A/G] NM_018986 SH3TC1 EXON Missense_G1271D exm388450 4 8242551 [T/C] NM_018986 SH3TC1 EXON Missense_R1294C exm388451 4 8242552 [A/G] NM_018986 SH3TC1 EXON Missense_R1294H exm388454 4 8242593 [A/G] NM_018986 SH3TC1 EXON Missense_A1308T exm388460 4 8242657 [T/G] NM_018986 SH3TC1 EXON Missense_W1329L rs12186177 4 8258650 [T/C] rs4455399 4 8267897 [A/G] rs6833227 4 8270320 [T/G] rs12639755 4 8280040 [T/C] NM_053044 HTRA3 Silent rs7690786 4 8287563 [A/G] NM_053044 HTRA3 Silent exm388488 4 8288310 [A/G] NM_053044 HTRA3 EXON Missense_V170M exm388493 4 8288376 [A/G] NM_053044 HTRA3 EXON Missense_V192M exm388506 4 8293163 [A/G] NM_053044 HTRA3 EXON Missense_I259V exm388510 4 8293193 [A/G] NM_053044 HTRA3 EXON Missense_V269M exm388511 4 8293200 [T/C] NM_053044 HTRA3 EXON Missense_T271M rs4696796 4 8303557 [A/G] NM_053044 HTRA3 Silent rs13144236 4 8304137 [A/G] NM_053044 HTRA3 Silent newrs146515543 4 8306002 [T/C] NM_053044 HTRA3 EXON Nonsense_Q398X rs4696802 4 8306091 [T/C] NM_053044 HTRA3 Silent exm388544 4 8307742 [A/G] NM_053044 HTRA3 EXON Missense_R414H rs6818156 4 8311043 [A/G] rs10023502 4 8313595 [A/G] rs12640734 4 8320126 [A/G] rs4696812 4 8321709 [A/G] rs1678330 4 8326441 [T/C] rs940141 4 8328353 [T/C] rs754740 4 8331956 [A/C] rs4696816 4 8334382 [A/G] rs2046027 4 8336320 [A/G] rs827018 4 8342853 [T/C] rs1678272 4 8353829 [A/G] rs4696820 4 8354600 [T/C] rs4696821 4 8355890 [A/G] rs708244 4 8368604 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Silent,Silent exm388570 4 8372686 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Synonymous_I644I,Missense_R622C exm388571 4 8372713 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Synonymous_D635D,Nonsense_R613X rs747580 4 8373088 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 Silent,Silent exm388581 4 8376719 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_A605V,Missense_A605V exm388584 4 8376729 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_R602C,Missense_R602C exm388593 4 8376867 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_R556C,Missense_R556C exm388594 4 8376870 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_G555S,Missense_G555S rs11735859 4 8377058 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 Silent,Silent rs4481223 4 8380149 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 Silent,Silent exm388599 4 8383292 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_R527Q,Missense_R527Q newrs146945288 4 8383293 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Nonsense_R527X,Nonsense_R527X exm388601 4 8383307 [A/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_V522G,Missense_V522G rs7697154 4 8386107 [T/G] NM_003501,NM_001101667 ACOX3,ACOX3 Silent,Silent exm2269899 4 8386107 [T/G] NM_003501,NM_001101667 ACOX3,ACOX3 Silent,Silent rs7696306 4 8389187 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 Silent,Silent rs1568692 4 8390646 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 Silent,Silent exm388607 4 8390948 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_D497N,Missense_D497N exm388610 4 8390965 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_A491V,Missense_A491V exm388614 4 8390992 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_P482L,Missense_P482L exm388615 4 8390998 [C/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_R480P,Missense_R480P exm388616 4 8390999 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_R480C,Missense_R480C exm388621 4 8391339 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_D475N,Missense_D475N exm388622 4 8391340 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Synonymous_H474H,Synonymous_H474H exm388635 4 8394156 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_A402T,Missense_A402T exm388637 4 8394168 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_R398C,Missense_R398C exm2276858 4 8396382 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Nonsense_R382X,Nonsense_R382X indel.80188 4 8396405 [I/D] NM_003501,NM_001101667 ACOX3,ACOX3 EXON exm388643 4 8396462 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_R355H,Missense_R355H rs6849528 4 8397625 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 Silent,Silent rs6810854 4 8397686 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 Silent,Silent variant.80189 4 8398663 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 Silent,Silent variant.80190 4 8398666 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Nonsense_Q352X,Nonsense_Q352X exm388651 4 8398798 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_R308W,Missense_R308W exm2080654 4 8398837 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Nonsense_Q295X,Nonsense_Q295X exm388662 4 8401372 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_M262V,Missense_M262V exm388663 4 8401375 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_A261T,Missense_A261T rs1880025 4 8404346 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 Silent,Silent rs10016221 4 8409237 [A/C] NM_003501,NM_001101667 ACOX3,ACOX3 Silent,Silent exm388670 4 8411937 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 Silent,Silent exm388681 4 8416050 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_R171H,Missense_R171H exm388686 4 8416102 [A/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Nonsense_G154X,Nonsense_G154X exm388687 4 8416586 [T/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_M150L,Missense_M150L exm388689 4 8416589 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_R149G,Missense_R149G exm388693 4 8417558 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_A105T,Missense_A105T exm388695 4 8417560 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_P104L,Missense_P104L exm388699 4 8417620 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_R84Q,Missense_R84Q exm388700 4 8417629 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_R81Q,Missense_R81Q exm388705 4 8417683 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_R63H,Missense_R63H exm2256754 4 8417712 [T/C] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Synonymous_S53S,Synonymous_S53S exm388712 4 8418118 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_M44T,Missense_M44T exm388717 4 8418148 [T/G] NM_003501,NM_001101667 ACOX3,ACOX3 EXON Missense_E34A,Missense_E34A rs2140336 4 8424831 [A/G] NM_003501,NM_001101667 ACOX3,ACOX3 Silent,Silent exm388728 4 8443084 [T/C] NM_152544 TRMT44 EXON Missense_L179F exm388729 4 8443139 [C/G] NM_152544 TRMT44 EXON Missense_T197R exm388731 4 8451460 [A/C] NM_152544 TRMT44 EXON Missense_P267T exm388734 4 8451559 [A/T] NM_152544 TRMT44 EXON Missense_M300L exm388736 4 8454639 [A/G] NM_152544 TRMT44 EXON Missense_R352G exm388742 4 8465721 [A/G] NM_152544 TRMT44 EXON Missense_I405V exm388744 4 8465736 [A/G] NM_152544 TRMT44 EXON Missense_K410E exm388745 4 8465740 [A/C] NM_152544 TRMT44 EXON Missense_T411N exm388751 4 8467157 [A/G] NM_152544 TRMT44 EXON Missense_I455V newrs147229355 4 8467193 [T/C] NM_152544 TRMT44 EXON Nonsense_Q467X var_4_8467289 4 8467289 [A/G] NM_152544 TRMT44 Silent indel.80199 4 8469654 [I/D] NM_152544 TRMT44 EXON indel.80200 4 8469684 [I/D] NM_152544 TRMT44 EXON exm388768 4 8469757 [G/C] NM_152544 TRMT44 EXON Missense_W537C exm388770 4 8469776 [T/C] NM_152544 TRMT44 EXON Missense_R544C exm2080892 4 8469794 [A/C] NM_152544 TRMT44 EXON Missense_S550R exm388773 4 8469816 [A/G] NM_152544 TRMT44 EXON Missense_Q557R exm388779 4 8469917 [T/C] NM_152544 TRMT44 EXON Missense_P591S exm388780 4 8469935 [T/C] NM_152544 TRMT44 EXON Missense_R597C variant.80204 4 8470019 [T/C] NM_152544 TRMT44 EXON Nonsense_Q625X exm388786 4 8470068 [C/G] NM_152544 TRMT44 EXON Missense_G641A exm388787 4 8472816 [G/C] NM_152544 TRMT44 EXON Missense_L645V exm388790 4 8472850 [T/C] NM_152544 TRMT44 EXON Missense_T656M exm388795 4 8472874 [A/G] NM_152544 TRMT44 EXON Missense_R664Q exm388796 4 8472882 [C/G] NM_152544 TRMT44 EXON Missense_G667R rs2631735 4 8476118 [A/G] NM_152544 TRMT44 Silent exm388806 4 8477562 [T/C] NM_152544 TRMT44 EXON Missense_P703L exm388809 4 8477583 [T/C] NM_152544 TRMT44 EXON Missense_L710P exm388815 4 8477642 [A/G] NM_152544 TRMT44 EXON Missense_A730T exm2241370 4 8477664 [T/C] NM_152544 TRMT44 EXON Missense_P737L rs2631738 4 8479754 [A/G] rs1949733 4 8503359 [A/G] exm-rs1949733 4 8503359 [A/G] rs3103097 4 8512712 [A/G] rs7665475 4 8518896 [T/C] rs16842486 4 8537786 [T/C] rs6447879 4 8541869 [T/C] rs10805209 4 8549845 [T/C] rs4696842 4 8554894 [T/C] rs3115378 4 8557865 [T/C] rs13108246 4 8567305 [T/C] rs11735274 4 8570973 [T/C] rs3115395 4 8574490 [T/C] rs1282 4 8579758 [T/C] exm388825 4 8582761 [A/G] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_V18M exm388838 4 8582876 [T/C] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_A56V exm388843 4 8582986 [T/G] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_A93S exm388851 4 8583179 [T/C] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_S157L exm388853 4 8583209 [C/G] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_P167R exm388877 4 8584295 [T/C] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_R236C exm388883 4 8584320 [T/G] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_G244V exm388885 4 8584332 [T/C] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_A248V rs4235272 4 8584879 [A/G] NR_045511,NM_080819 GPR78,GPR78 Silent,Silent exm2265666 4 8586596 [A/G] NR_045511,NM_080819 GPR78,GPR78 Silent,Silent exm2275730 4 8588786 [T/C] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_A263V exm388907 4 8588950 [T/C] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_R318C exm388909 4 8588986 [A/G] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Missense_A330T rs9799378 4 8589714 [A/G] NR_045511,NM_080819 GPR78,GPR78 EXON Silent,Silent rs10938726 4 8596478 [A/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ Silent,Silent,Silent rs4696855 4 8597140 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ Silent,Silent,Silent exm388956 4 8602930 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_R68W,Silent,Missense_R57W exm388977 4 8603105 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_R126Q,Silent,Missense_R115Q exm388981 4 8603123 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_A132V,Silent,Missense_A121V exm2081157 4 8603180 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_T151M,Missense_T14M,Missense_T140M exm388988 4 8603207 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_P160L,Missense_P23L,Missense_P149L rs3822202 4 8604153 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ Silent,Silent,Silent exm388993 4 8605742 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_P179L,Missense_P42L,Missense_P168L exm388997 4 8605756 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_R184C,Missense_R47C,Missense_R173C exm389000 4 8605790 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_R195H,Missense_R58H,Missense_R184H exm389001 4 8605801 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_R199W,Missense_R62W,Missense_R188W exm2081170 4 8605881 [C/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_I225M,Missense_I88M,Missense_I214M rs6838212 4 8606863 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ Silent,Silent,Silent rs4696703 4 8607587 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ Silent,Silent,Silent exm389022 4 8607757 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_E251K,Missense_E114K,Missense_E240K exm389026 4 8607794 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_Q263R,Missense_Q126R,Missense_Q252R exm389029 4 8607829 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_R275C,Missense_R138C,Missense_R264C exm389030 4 8607838 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_R278C,Missense_R141C,Missense_R267C exm389031 4 8607848 [A/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_N281T,Missense_N144T,Missense_N270T exm389032 4 8607856 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_R284C,Missense_R147C,Missense_R273C exm389040 4 8608506 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Nonsense_Q317X,Nonsense_Q180X,Nonsense_Q306X exm2256764 4 8608538 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Synonymous_D327D,Synonymous_D190D,Synonymous_D316D exm2081178 4 8608558 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_R334Q,Missense_R197Q,Missense_R323Q exm389049 4 8608572 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_R339C,Missense_R202C,Missense_R328C exm389051 4 8608582 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_R342H,Missense_R205H,Missense_R331H exm389069 4 8609123 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_K400E,Missense_K263E,Missense_K389E exm389070 4 8609124 [A/T] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_K400M,Missense_K263M,Missense_K389M exm389071 4 8609150 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_K409E,Missense_K272E,Missense_K398E exm2081191 4 8609153 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ Silent,Silent,Silent exm389073 4 8613762 [T/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_K412N,Missense_K275N,Missense_K401N rs4696864 4 8614792 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ Silent,Silent,Silent exm389103 4 8616087 [A/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Synonymous_G455G,Synonymous_G318G,Synonymous_G444G exm389107 4 8616131 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_T470M,Missense_T333M,Missense_T459M exm389110 4 8616160 [G/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_P480A,Missense_P343A,Missense_P469A exm389113 4 8616179 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_I486T,Missense_I349T,Missense_I475T exm389115 4 8616217 [G/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_V499L,Missense_V362L,Missense_V488L rs9991535 4 8616224 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_T501M,Missense_T364M,Missense_T490M exm389116 4 8616224 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_T501M,Missense_T364M,Missense_T490M exm389122 4 8620163 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_R504Q,Missense_R367Q,Missense_R493Q exm389124 4 8620172 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_K507R,Missense_K370R,Missense_K496R exm389127 4 8620195 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_G515S,Missense_G378S,Missense_G504S indel.80227 4 8620222 [D/I] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON rs2302569 4 8620464 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ Silent,Silent,Silent exm389139 4 8621055 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_G557D,Missense_G420D,Missense_G546D exm389141 4 8621060 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_A559T,Missense_A422T,Missense_A548T exm389144 4 8621090 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_A569T,Missense_A432T,Missense_A558T exm389145 4 8621094 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_R570Q,Missense_R433Q,Missense_R559Q exm389147 4 8621112 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_R576H,Missense_R439H,Missense_R565H exm389148 4 8621123 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_I580V,Missense_I443V,Missense_I569V exm389156 4 8621172 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_R596Q,Missense_R459Q,Missense_R585Q exm2275732 4 8621189 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_D602N,Missense_D465N,Missense_D591N exm389159 4 8621193 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_P603L,Missense_P466L,Missense_P592L exm2277283 4 8621247 [A/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_A621E,Missense_A484E,Missense_A610E exm389169 4 8621250 [A/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_R622H,Missense_R485H,Missense_R611H exm2256766 4 8621263 [T/G] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Synonymous_S626S,Synonymous_S489S,Synonymous_S615S exm389178 4 8621324 [T/C] NM_001014447,NM_001014448,NM_003652 CPZ,CPZ,CPZ EXON Missense_R647C,Missense_R510C,Missense_R636C exm2269900 4 8641696 [T/C] rs4077958 4 8647233 [T/C] rs10018816 4 8663630 [A/G] rs13139568 4 8673840 [T/C] rs13106982 4 8681538 [T/C] rs6817108 4 8694389 [T/C] rs6447893 4 8706113 [T/C] rs7440704 4 8709575 [T/C] rs7434698 4 8711399 [T/C] rs10938742 4 8713015 [T/C] rs11724850 4 8722340 [T/C] kgp237758 4 8722540 [A/G] rs4522850 4 8722990 [A/G] exm389192 4 8872977 [T/C] NM_018942 HMX1 EXON Missense_G122S kgp6380576 4 8875186 [A/C] kgp3872640 4 8880834 [A/G] rs6858299 4 9371116 [T/C] rs7437149 4 9404812 [A/G] rs11722202 4 9443894 [T/C] exm389261 4 9446299 [A/G] NM_001040448 DEFB131 EXON Missense_M14V rs12501535 4 9456977 [T/C] rs9714696 4 9485300 [A/C] kgp4425038 4 9496079 [T/C] rs10001694 4 9551094 [A/G] rs2170252 4 9560062 [A/C] rs6820570 4 9579020 [A/G] rs13135278 4 9582422 [A/G] rs6824806 4 9589427 [T/G] rs6448858 4 9595918 [T/G] rs12645339 4 9596615 [T/C] rs1809401 4 9599790 [T/C] rs12509677 4 9602724 [A/G] kgp1985468 4 9607834 [T/C] rs7434744 4 9672688 [A/C] rs7658414 4 9687969 [T/G] rs4554078 4 9701544 [A/G] rs13136075 4 9714968 [A/G] rs12645989 4 9722133 [T/C] rs13127001 4 9731215 [A/G] rs10011621 4 9760239 [A/C] rs7655090 4 9765875 [A/G] rs10003216 4 9766749 [A/G] exm389320 4 9783877 [T/C] NM_000798 DRD5 EXON Missense_M75T exm389324 4 9783915 [T/C] NM_000798 DRD5 EXON Missense_L88F exm389351 4 9784246 [A/C] NM_000798 DRD5 EXON Missense_A198D exm389369 4 9784509 [A/G] NM_000798 DRD5 EXON Missense_A286T exm389385 4 9784658 [A/C] NM_000798 DRD5 EXON Nonsense_C335X exm389393 4 9784750 [A/G] NM_000798 DRD5 EXON Missense_Q366R indel.80239 4 9785081 [D/I] NM_000798 DRD5 EXON rs1850744 4 9790712 [T/C] rs13106539 4 9797703 [T/C] rs16888799 4 9804556 [T/C] rs12500086 4 9809859 [A/G] exm2261786 4 9811133 [A/G] indel.80240 4 9828086 [I/D] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON rs6837273 4 9829086 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs1401440 4 9832512 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent exm389416 4 9836555 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON Missense_V457I,Missense_V428I rs10939558 4 9844162 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs16889496 4 9845597 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs2176644 4 9849528 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs9684729 4 9862036 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs4697903 4 9865426 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs11941148 4 9872364 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs2867394 4 9872475 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs16889932 4 9877640 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs6834978 4 9881600 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs6847887 4 9883801 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs6449090 4 9884536 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs10805342 4 9887086 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs10939605 4 9896293 [A/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs4697909 4 9896760 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent exm2265667 4 9903121 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs4389579 4 9907604 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs2280205 4 9909923 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON Missense_P350L,Missense_P321L exm389442 4 9909923 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON Missense_P350L,Missense_P321L exm389443 4 9909926 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON Missense_P349L,Missense_P320L exm389448 4 9922112 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON Missense_R300H,Missense_R271H exm389449 4 9922113 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON Missense_R300C,Missense_R271C exm389451 4 9922128 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON Missense_V295M,Missense_V266M rs3733591 4 9922130 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON Missense_R294H,Missense_R265H exm389453 4 9922130 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON Missense_R294H,Missense_R265H exm389455 4 9922167 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON Missense_V282I,Missense_V253I exm389458 4 9922187 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON Missense_T275M,Missense_T246M exm-rs734553 4 9923004 [T/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent exm-rs13129697 4 9926967 [T/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs737267 4 9934744 [T/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent exm-rs6855911 4 9935910 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs7675964 4 9941434 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent exm389460 4 9943542 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON Missense_V270A,Missense_V241A exm389467 4 9943624 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON Missense_V243I,Missense_V214I rs6449144 4 9944650 [T/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs1122141 4 9947278 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs7686538 4 9948077 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs4519796 4 9955936 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs4481233 4 9956079 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent exm-rs7442295 4 9966380 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs13125646 4 9982330 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON Synonymous_L189L,Synonymous_L160L rs7678012 4 9993772 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent exm-rs3775948 4 9995182 [G/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs3775948 4 9995182 [G/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs13111638 4 9996890 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs4547795 4 9997060 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent exm2082918 4 9998441 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON Missense_T125M,Missense_T96M rs6853437 4 10005435 [A/G] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent rs6849273 4 10021595 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 Silent,Silent exm389512 4 10022947 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON Missense_C36Y,Silent exm389513 4 10022981 [T/C] NM_020041,NM_001001290 SLC2A9,SLC2A9 EXON Missense_G25R,Silent rs6820230 4 10027542 [T/C] NM_001001290 SLC2A9 EXON Missense_A17T exm389520 4 10027542 [T/C] NM_001001290 SLC2A9 EXON Missense_A17T exm389521 4 10027568 [T/C] NM_001001290 SLC2A9 EXON Missense_R8Q indel.80244 4 10027569 [I/D] NM_001001290 SLC2A9 EXON rs10006397 4 10036140 [A/C] NM_001001290 SLC2A9 Silent rs733175 4 10050141 [T/C] rs7671266 4 10056376 [T/C] rs6834555 4 10062326 [A/G] rs12509082 4 10073785 [A/G] exm389532 4 10079377 [T/C] NM_005112,NM_017491 WDR1,WDR1 EXON Synonymous_S383S,Synonymous_S523S exm2240238 4 10079513 [A/G] NM_005112,NM_017491 WDR1,WDR1 EXON Missense_T338M,Missense_T478M exm389540 4 10080534 [A/G] NM_005112,NM_017491 WDR1,WDR1 EXON Missense_T319M,Missense_T459M exm389541 4 10080544 [T/C] NM_005112,NM_017491 WDR1,WDR1 EXON Missense_G316S,Missense_G456S rs10516200 4 10082156 [A/C] NM_005112,NM_017491 WDR1,WDR1 Silent,Silent variant.80248 4 10086062 [A/G] NM_005112,NM_017491 WDR1,WDR1 Silent,Silent exm2062608 4 10086063 [A/G] NM_005112,NM_017491 WDR1,WDR1 Silent,Silent rs3756227 4 10087995 [A/C] NM_005112,NM_017491 WDR1,WDR1 Silent,Silent exm389576 4 10089539 [T/C] NM_005112,NM_017491 WDR1,WDR1 EXON Missense_H108R,Missense_H248R exm389582 4 10089994 [A/G] NM_005112,NM_017491 WDR1,WDR1 EXON Missense_Y74H,Missense_Y214H exm389587 4 10099340 [T/C] NM_005112,NM_017491 WDR1,WDR1 EXON Silent,Missense_I185V rs13441 4 10099340 [T/C] NM_005112,NM_017491 WDR1,WDR1 EXON Silent,Missense_I185V exm389590 4 10099381 [A/G] NM_005112,NM_017491 WDR1,WDR1 EXON Silent,Missense_A171V rs717615 4 10104670 [A/G] NM_005112,NM_017491 WDR1,WDR1 Silent,Silent exm-rs717615 4 10104670 [A/G] NM_005112,NM_017491 WDR1,WDR1 Silent,Silent exm389603 4 10105567 [A/G] NM_005112,NM_017491 WDR1,WDR1 EXON Silent,Missense_V61A rs4604059 4 10115065 [T/C] NM_005112,NM_017491 WDR1,WDR1 Silent,Silent exm2240242 4 10117737 [A/G] NM_005112,NM_017491 WDR1,WDR1 EXON Synonymous_D46D,Synonymous_D46D rs12374320 4 10120609 [T/C] rs7699512 4 10125808 [T/C] rs7699671 4 10125874 [T/C] rs17198113 4 10138470 [T/C] exm2256245 4 10140259 [T/C] rs10024447 4 10145890 [A/G] rs6813385 4 10148828 [T/C] rs4697936 4 10149595 [T/G] rs6851524 4 10155041 [A/C] rs16894270 4 10165779 [T/G] rs6835689 4 10172479 [T/C] rs4697952 4 10173019 [A/G] rs6449342 4 10179769 [A/G] rs6811287 4 10180823 [T/C] rs956312 4 10188326 [A/G] rs2868420 4 10202997 [A/G] rs11947517 4 10209251 [A/G] rs1978274 4 10245087 [T/G] rs11732042 4 10246448 [T/C] rs7661555 4 10250026 [T/C] rs9997918 4 10252199 [A/G] rs4697986 4 10258968 [A/G] rs7676442 4 10272591 [T/C] rs10489074 4 10272605 [A/C] rs10939814 4 10273329 [T/C] rs734662 4 10281141 [A/G] rs9991653 4 10310495 [A/G] rs6853389 4 10313460 [T/G] rs993173 4 10323935 [T/C] exm-rs9291683 4 10324160 [A/G] rs4698036 4 10331294 [T/G] kgp3510801 4 10331925 [T/G] rs7677806 4 10383005 [T/C] rs9990701 4 10388610 [A/G] rs7683253 4 10419465 [T/C] exm389635 4 10445207 [T/C] NM_053042 ZNF518B EXON Missense_I916V exm389636 4 10445246 [T/G] NM_053042 ZNF518B EXON Missense_I903L exm389638 4 10445312 [A/C] NM_053042 ZNF518B EXON Missense_S881A exm389649 4 10445441 [T/C] NM_053042 ZNF518B EXON Missense_N838D exm389655 4 10445497 [A/G] NM_053042 ZNF518B EXON Missense_A819V exm389660 4 10445623 [A/T] NM_053042 ZNF518B EXON Missense_V777E exm389662 4 10445672 [A/C] NM_053042 ZNF518B EXON Missense_A761S exm389663 4 10445716 [A/G] NM_053042 ZNF518B EXON Missense_P746L exm389664 4 10445770 [A/G] NM_053042 ZNF518B EXON Missense_P728L exm389665 4 10445794 [T/G] NM_053042 ZNF518B EXON Missense_S720Y exm389670 4 10445884 [T/C] NM_053042 ZNF518B EXON Missense_R690H exm389688 4 10446208 [A/G] NM_053042 ZNF518B EXON Missense_A582V exm389690 4 10446274 [T/C] NM_053042 ZNF518B EXON Missense_N560S exm389692 4 10446281 [T/G] NM_053042 ZNF518B EXON Missense_K558Q indel.80255 4 10446380 [I/D] NM_053042 ZNF518B EXON exm389696 4 10446385 [T/C] NM_053042 ZNF518B EXON Missense_S523N exm389698 4 10446410 [T/C] NM_053042 ZNF518B EXON Missense_E515K exm389699 4 10446444 [G/C] NM_053042 ZNF518B EXON Missense_N503K exm389700 4 10446466 [T/C] NM_053042 ZNF518B EXON Missense_R496H exm2063103 4 10446610 [T/C] NM_053042 ZNF518B EXON Missense_H448R exm389709 4 10446707 [T/C] NM_053042 ZNF518B EXON Missense_V416I exm389710 4 10446725 [T/C] NM_053042 ZNF518B EXON Missense_G410R exm389716 4 10446892 [T/C] NM_053042 ZNF518B EXON Missense_N354S rs10016022 4 10446906 [A/G] NM_053042 ZNF518B EXON Synonymous_D349D exm389723 4 10447130 [T/C] NM_053042 ZNF518B EXON Missense_I275V exm389726 4 10447168 [C/G] NM_053042 ZNF518B EXON Missense_G262A exm389729 4 10447194 [T/G] NM_053042 ZNF518B EXON Missense_Q253H exm389738 4 10447327 [A/G] NM_053042 ZNF518B EXON Missense_T209M exm389747 4 10447588 [T/C] NM_053042 ZNF518B EXON Missense_N122S exm2063114 4 10447628 [A/G] NM_053042 ZNF518B EXON Missense_H109Y exm389749 4 10447640 [A/G] NM_053042 ZNF518B EXON Missense_S105P exm389750 4 10447679 [T/C] NM_053042 ZNF518B EXON Missense_G92S rs10021506 4 10447848 [T/G] NM_053042 ZNF518B EXON Synonymous_P35P exm389761 4 10447907 [T/C] NM_053042 ZNF518B EXON Missense_G16R exm389762 4 10447910 [T/C] NM_053042 ZNF518B EXON Missense_G15S rs4339203 4 10462106 [A/G] rs4333176 4 10475280 [A/C] exm2264082 4 10484987 [A/C] rs6836689 4 10485577 [A/G] rs10440278 4 10486083 [T/C] rs10488945 4 10490278 [T/G] rs17467273 4 10500431 [T/C] NM_052964 CLNK Silent rs6834691 4 10501373 [A/G] NM_052964 CLNK Silent exm2063135 4 10502909 [A/C] NM_052964 CLNK EXON Missense_A371S exm389775 4 10502935 [T/C] NM_052964 CLNK EXON Missense_R362H exm389776 4 10502936 [A/G] NM_052964 CLNK EXON Missense_R362C exm389778 4 10502971 [A/G] NM_052964 CLNK EXON Missense_V350A rs10488947 4 10503752 [A/G] NM_052964 CLNK Silent variant.80260 4 10509578 [A/G] NM_052964 CLNK Silent exm2275733 4 10509611 [A/C] NM_052964 CLNK EXON Missense_V319G rs1004327 4 10511483 [T/C] NM_052964 CLNK Silent rs10034180 4 10518525 [A/G] NM_052964 CLNK Silent exm389789 4 10527468 [A/C] NM_052964 CLNK EXON Missense_S243I exm389790 4 10527472 [T/C] NM_052964 CLNK EXON Missense_I242V var_4_10527550 4 10527550 [T/C] NM_052964 CLNK Silent rs12641877 4 10528226 [A/G] NM_052964 CLNK Silent rs7657102 4 10529520 [A/G] NM_052964 CLNK Silent variant.80262 4 10529720 [T/G] NM_052964 CLNK Silent indel.80263 4 10542156 [I/D] NM_052964 CLNK EXON exm389802 4 10543646 [A/C] NM_052964 CLNK EXON Missense_R164L exm389803 4 10543893 [T/C] NM_052964 CLNK EXON Missense_V153I rs13112750 4 10547343 [T/C] NM_052964 CLNK Silent rs9992798 4 10554478 [A/G] NM_052964 CLNK Silent rs1974584 4 10557861 [T/C] NM_052964 CLNK Silent rs4698069 4 10559041 [A/G] NM_052964 CLNK Silent variant.80265 4 10560026 [T/C] NM_052964 CLNK Silent exm2063166 4 10566400 [A/G] NM_052964 CLNK EXON Synonymous_D98D exm389816 4 10567633 [T/C] NM_052964 CLNK EXON Missense_D98N exm389818 4 10567687 [A/G] NM_052964 CLNK EXON Missense_W80R exm2256260 4 10567709 [A/G] NM_052964 CLNK EXON Synonymous_P72P exm389821 4 10567732 [T/C] NM_052964 CLNK EXON Missense_S65G exm389822 4 10567765 [A/C] NM_052964 CLNK EXON Missense_F54V exm389823 4 10573383 [T/G] NM_052964 CLNK EXON Missense_N44K rs6448095 4 10575214 [A/G] NM_052964 CLNK Silent exm389830 4 10586571 [A/G] NM_052964 CLNK EXON Missense_P31L rs11934521 4 10589553 [A/G] NM_052964 CLNK Silent rs10488949 4 10591448 [T/G] NM_052964 CLNK Silent exm389833 4 10599639 [T/C] NM_052964 CLNK EXON Missense_D16N rs4697760 4 10601918 [T/C] NM_052964 CLNK Silent rs2079685 4 10609118 [T/C] NM_052964 CLNK Silent rs17383444 4 10621516 [A/G] NM_052964 CLNK Silent rs2720363 4 10626314 [T/G] NM_052964 CLNK Silent rs12650571 4 10649456 [A/G] NM_052964 CLNK Silent rs11723092 4 10651891 [A/G] NM_052964 CLNK Silent rs4697768 4 10654997 [A/G] NM_052964 CLNK Silent rs3935222 4 10666634 [A/G] NM_052964 CLNK Silent rs13144136 4 10666909 [T/G] NM_052964 CLNK Silent rs13136927 4 10669522 [A/C] NM_052964 CLNK EXON Silent rs13115026 4 10670046 [A/G] NM_052964 CLNK Silent rs4697777 4 10675030 [T/C] NM_052964 CLNK Silent rs6827843 4 10688637 [A/C] rs6448182 4 10693222 [T/C] rs11725929 4 10694991 [T/G] rs11726285 4 10702568 [T/C] rs4697650 4 10706422 [A/G] rs11733408 4 10709812 [A/C] rs4561924 4 10714457 [T/C] rs16872571 4 10726853 [T/C] rs13116306 4 10727697 [T/C] rs4697653 4 10728759 [A/G] rs10016050 4 10747573 [T/C] rs10007887 4 10749071 [T/C] rs4420973 4 10751743 [A/C] rs12651622 4 10792729 [A/C] rs10938980 4 10804019 [T/C] rs1872090 4 10834255 [T/C] rs16873628 4 10836045 [A/C] rs2869749 4 10857992 [A/G] rs4074743 4 10867056 [T/G] rs4697799 4 10872167 [T/G] rs13107834 4 10874933 [A/G] rs7698615 4 10877223 [A/G] rs16874378 4 10886524 [A/G] rs11735551 4 10886810 [T/G] rs4697806 4 10892111 [T/C] rs959233 4 10902159 [A/G] rs2904192 4 10904684 [T/G] rs1105503 4 10905127 [A/G] rs10028469 4 10909225 [T/G] rs17280854 4 10931542 [A/G] rs11935551 4 10931588 [T/G] rs4697808 4 10931705 [A/G] rs2869768 4 10943926 [T/C] rs13124128 4 10949825 [T/C] rs10222862 4 10950989 [A/C] rs12510358 4 10951093 [T/C] rs1466529 4 10952541 [A/G] rs7683621 4 10961185 [T/C] rs10009111 4 10971423 [A/G] rs7675535 4 10972640 [T/C] rs2128866 4 10975896 [T/G] rs13143997 4 10980181 [T/C] rs10012274 4 10981163 [T/C] rs2046359 4 10989008 [A/C] rs2128863 4 11002528 [A/G] rs9291483 4 11016733 [T/C] rs6846529 4 11025131 [T/C] rs1110365 4 11049844 [A/G] rs1110364 4 11050130 [T/C] rs1039682 4 11050420 [A/G] rs6846243 4 11053537 [A/G] exm2265668 4 11053537 [A/G] rs7698375 4 11060009 [A/G] rs10003771 4 11069107 [T/C] rs7697986 4 11069265 [A/G] rs4697834 4 11077316 [T/C] rs16877810 4 11088906 [T/C] rs6837846 4 11091396 [T/G] rs6448494 4 11099518 [T/C] rs16878083 4 11100788 [A/G] rs8180283 4 11112475 [T/G] rs11944172 4 11112491 [A/G] rs7694486 4 11116063 [T/C] rs1506794 4 11119349 [A/G] rs1506793 4 11120280 [T/C] rs1506791 4 11120491 [A/C] rs10034047 4 11127123 [T/G] exm-rs1876265 4 11162918 [T/G] rs1876265 4 11162918 [T/G] rs6448544 4 11173785 [A/C] rs1399334 4 11179846 [T/C] rs10034712 4 11182041 [T/G] rs2048069 4 11189001 [T/C] rs6835872 4 11191470 [T/G] rs9683691 4 11201074 [T/C] rs16878957 4 11208907 [T/G] rs10009253 4 11216238 [T/C] exm2261584 4 11216238 [T/C] rs10031075 4 11216471 [A/G] rs4697681 4 11221352 [A/G] rs1003271 4 11224411 [T/C] rs1355966 4 11231335 [A/G] rs965001 4 11232758 [T/C] rs11727553 4 11233074 [T/G] rs10034384 4 11235941 [A/G] rs1548184 4 11244792 [T/C] rs782754 4 11264808 [A/G] rs782756 4 11266157 [A/G] rs1533338 4 11267586 [T/C] rs6830548 4 11273101 [A/G] rs6852625 4 11276716 [T/C] rs1609245 4 11285331 [A/G] rs7663785 4 11289125 [T/C] rs10805282 4 11291091 [T/G] rs13104553 4 11295820 [T/C] rs6829669 4 11302760 [A/G] rs1528078 4 11315928 [A/C] rs17383790 4 11320411 [T/C] rs917684 4 11352031 [A/G] rs13112974 4 11364771 [T/C] rs11731587 4 11390069 [A/G] exm389847 4 11400746 [T/C] NM_005114 HS3ST1 EXON Missense_K295R exm2064147 4 11401039 [G/C] NM_005114 HS3ST1 EXON Missense_H197Q rs1047389 4 11401087 [A/G] NM_005114 HS3ST1 EXON Synonymous_D181D exm389870 4 11401239 [T/C] NM_005114 HS3ST1 EXON Missense_E131K exm389875 4 11401341 [T/C] NM_005114 HS3ST1 EXON Missense_S97G exm389876 4 11401353 [C/G] NM_005114 HS3ST1 EXON Missense_E93Q rs7660531 4 11424898 [T/C] NM_005114 HS3ST1 Silent rs11936371 4 11435516 [A/G] rs224481 4 11441634 [A/G] rs17424739 4 11449199 [T/C] rs402575 4 11455518 [T/C] rs224480 4 11463773 [T/C] rs13137776 4 11464975 [A/G] rs7699705 4 11467103 [A/G] rs9291554 4 11475911 [A/G] rs11735501 4 11481304 [A/C] rs2029799 4 11483569 [T/C] rs12163751 4 11487322 [A/G] rs10004232 4 11498145 [T/C] rs923997 4 11500166 [A/G] rs1390096 4 11503604 [A/G] rs4916640 4 11507454 [A/C] rs1565928 4 11511779 [T/G] rs9993962 4 11515688 [A/G] rs12508213 4 11524263 [A/C] rs1603186 4 11537238 [T/C] rs10155331 4 11538001 [T/C] rs7687011 4 11538947 [T/C] rs956469 4 11546275 [T/G] rs1032502 4 11547106 [A/G] rs6846137 4 11547681 [A/G] rs10049912 4 11571164 [T/C] rs10488991 4 11577136 [T/G] rs17427761 4 11605860 [T/C] rs6816174 4 11609704 [T/C] rs6842740 4 11619288 [T/C] rs6845061 4 11624085 [A/G] rs11728092 4 11631446 [A/G] rs10009834 4 11635856 [T/C] exm-rs10488988 4 11636163 [T/C] rs4397010 4 11664714 [T/C] rs6828619 4 11666971 [T/C] rs7671189 4 11674661 [T/C] rs12649160 4 11677334 [A/G] rs2870411 4 11692300 [A/C] rs7696515 4 11701193 [A/G] rs2279546 4 11732810 [A/C] rs993835 4 11744388 [A/C] rs7654642 4 11747298 [T/C] rs1388867 4 11754426 [T/C] rs9291579 4 11755497 [T/C] rs10031209 4 11773427 [T/C] rs923747 4 11775089 [T/C] rs6448823 4 11779280 [A/G] rs16886144 4 11789355 [T/C] rs7661409 4 11816679 [A/G] rs6448833 4 11819371 [T/C] rs1489473 4 11825987 [A/G] rs10024612 4 11850963 [T/C] rs2200819 4 11868786 [A/C] rs6840259 4 11872010 [T/C] rs17256627 4 11873033 [T/C] rs6843251 4 11873630 [A/G] rs11934095 4 11884262 [A/G] rs4394018 4 11900932 [T/C] rs10084803 4 11917328 [T/C] rs2171726 4 11922712 [T/C] rs11939914 4 11924046 [A/G] rs11725886 4 11926778 [A/G] rs10213502 4 11948654 [A/G] rs11933846 4 11950887 [A/G] rs9685781 4 11954738 [A/G] rs16886480 4 11956720 [T/C] rs13133185 4 11981872 [T/C] exm2269719 4 12000904 [T/C] rs1372887 4 12000904 [T/C] rs6448852 4 12017993 [T/C] rs16886566 4 12028032 [T/C] rs16886607 4 12069337 [A/G] rs1025877 4 12074137 [A/G] rs1479273 4 12083991 [T/C] rs12641414 4 12088133 [T/C] rs16886736 4 12090970 [T/G] rs6810659 4 12099307 [A/C] rs4834882 4 12108239 [T/C] rs1479266 4 12150124 [A/C] rs10470840 4 12154213 [T/C] rs7670873 4 12171491 [T/C] rs6858365 4 12172669 [T/C] rs6448866 4 12176643 [T/C] rs724317 4 12180791 [A/C] rs35429502 4 12186039 [T/C] rs10516248 4 12186445 [A/C] rs12331250 4 12196573 [A/C] rs1982655 4 12212637 [T/C] rs10939415 4 12216880 [T/C] rs13108906 4 12218164 [A/C] rs12505670 4 12231149 [T/G] rs2124141 4 12242026 [T/C] rs1454883 4 12258122 [T/C] rs2061062 4 12267885 [A/G] rs1454870 4 12275642 [A/C] rs1902137 4 12296574 [A/G] rs4834885 4 12297358 [T/C] rs4834974 4 12306820 [T/C] rs11722471 4 12313033 [A/G] rs1454882 4 12317409 [A/G] rs7677522 4 12320759 [A/C] rs1378233 4 12328063 [A/G] rs16886962 4 12344593 [T/C] rs6448887 4 12361202 [A/G] rs9283696 4 12375400 [T/C] rs4377605 4 12383947 [A/G] rs11942175 4 12395247 [T/C] rs6855410 4 12405180 [A/C] rs13435388 4 12420636 [A/G] rs7656574 4 12421862 [T/C] rs4447880 4 12436544 [T/C] exm2269902 4 12440385 [T/C] rs6824314 4 12454605 [T/C] rs6812909 4 12470500 [T/C] rs6819663 4 12471651 [A/G] rs1351455 4 12526515 [T/G] rs6847440 4 12543102 [A/G] rs6448916 4 12546096 [T/C] rs6448925 4 12554693 [A/G] rs977629 4 12569163 [A/G] rs10029959 4 12578444 [A/C] rs6857588 4 12585408 [A/G] rs6830435 4 12588094 [T/C] rs17295743 4 12593370 [A/G] rs4571345 4 12593395 [T/C] rs6448932 4 12595799 [T/G] rs6448933 4 12596193 [T/C] rs7664245 4 12599135 [A/C] rs7659827 4 12607338 [A/G] rs1545817 4 12627162 [T/G] rs6822083 4 12634511 [A/C] rs7692229 4 12639728 [A/G] rs11946420 4 12663829 [T/C] exm2265669 4 12664089 [A/G] rs1402033 4 12678480 [T/G] rs13151965 4 12679993 [T/C] rs2903351 4 12707180 [T/C] rs9291595 4 12712139 [T/G] rs7663013 4 12723707 [T/C] rs11728601 4 12725164 [T/G] rs13136382 4 12733389 [T/C] rs9291598 4 12736121 [T/C] rs10022602 4 12741313 [T/C] rs7692324 4 12757442 [T/G] rs16887552 4 12773994 [A/C] rs6810977 4 12776391 [T/C] rs6448952 4 12776895 [A/G] rs17366799 4 12778849 [A/G] exm2265670 4 12778849 [A/G] rs6857474 4 12782701 [T/C] rs12507532 4 12790058 [T/C] rs13105543 4 12795135 [A/C] rs807423 4 12802055 [T/C] rs807418 4 12808091 [A/G] rs7662165 4 12811827 [A/G] rs2540821 4 12819018 [T/C] rs2711547 4 12839087 [A/G] rs10939459 4 12862476 [A/G] rs17515558 4 12875351 [T/C] rs9291601 4 12876257 [A/G] rs12502445 4 12881391 [A/C] rs12648564 4 12894741 [A/G] rs981269 4 12897698 [T/C] rs16887775 4 12902074 [A/G] rs7675207 4 12914709 [T/C] rs4834855 4 12928197 [T/C] rs223997 4 12934281 [T/C] rs1154862 4 12939091 [T/C] rs6850802 4 12940751 [A/G] rs759439 4 12949656 [A/G] rs223976 4 12962421 [A/G] exm-rs763318 4 12963574 [A/G] rs763318 4 12963574 [A/G] rs4834856 4 12997151 [T/C] rs2673423 4 13002341 [T/C] rs2056116 4 13009987 [A/G] rs7679886 4 13026562 [T/C] rs1513948 4 13027245 [A/G] rs4834860 4 13030876 [A/G] rs981561 4 13037163 [A/G] rs1973655 4 13037938 [A/G] rs1904794 4 13049139 [A/G] rs2127657 4 13056251 [A/G] rs2903472 4 13056521 [A/C] rs2127660 4 13067251 [A/C] rs16888112 4 13075100 [T/C] rs10939464 4 13081396 [A/G] rs496099 4 13082236 [A/G] rs497117 4 13082344 [T/C] rs13122273 4 13102351 [T/G] rs9991988 4 13111719 [T/C] rs491376 4 13116762 [G/C] rs525216 4 13118169 [T/C] rs573332 4 13122535 [T/C] rs536983 4 13130251 [T/G] rs6836652 4 13130999 [A/G] rs519639 4 13140134 [T/C] rs490325 4 13147622 [A/G] rs503506 4 13149122 [A/G] rs562920 4 13167596 [T/C] rs870835 4 13193295 [T/C] rs10008923 4 13213672 [A/G] rs6847194 4 13245646 [T/C] rs16888468 4 13276652 [T/C] rs3213705 4 13297604 [A/G] rs6448976 4 13300269 [T/C] rs6851825 4 13302267 [A/G] rs16888511 4 13303269 [T/C] kgp358899 4 13304649 [T/C] kgp5612098 4 13305522 [T/C] rs11947530 4 13360630 [T/C] rs10003958 4 13370308 [T/C] NM_004249,NM_001017979,NM_001159601 RAB28,RAB28,RAB28 Silent,Silent,Silent exm389902 4 13371577 [T/C] NM_004249,NM_001017979,NM_001159601 RAB28,RAB28,RAB28 EXON Missense_A196T,Silent,Silent rs2109590 4 13377286 [T/C] NM_004249,NM_001017979,NM_001159601 RAB28,RAB28,RAB28 Silent,Silent,Silent exm389911 4 13383174 [A/G] NM_004249,NM_001017979,NM_001159601 RAB28,RAB28,RAB28 EXON Missense_R146W,Missense_R146W,Missense_R146W kgp8698246 4 13389590 [T/G] NM_004249,NM_001017979,NM_001159601 RAB28,RAB28,RAB28 Silent,Silent,Silent rs10939477 4 13391279 [T/C] NM_004249,NM_001017979,NM_001159601 RAB28,RAB28,RAB28 Silent,Silent,Silent rs10516268 4 13478859 [A/G] NM_004249,NM_001017979,NM_001159601 RAB28,RAB28,RAB28 Silent,Silent,Silent rs7695513 4 13490658 [A/G] exm2265671 4 13526386 [A/G] rs2075050 4 13526386 [A/G] rs10939485 4 13538956 [A/G] exm389957 4 13545804 [T/A] NM_001189 NKX3-2 EXON Missense_T79S exm2066035 4 13545835 [T/G] NM_001189 NKX3-2 EXON Missense_D68E rs13105197 4 13559103 [A/C] rs12651430 4 13566458 [T/G] exm389975 4 13571720 [T/C] NM_148894 BOD1L1 EXON Missense_R3024H exm389980 4 13578557 [A/C] NM_148894 BOD1L1 EXON Missense_K2981N exm389984 4 13579078 [A/G] NM_148894 BOD1L1 EXON Missense_R2945C exm389985 4 13579081 [T/C] NM_148894 BOD1L1 EXON Missense_V2944M rs10005546 4 13580676 [A/C] NM_148894 BOD1L1 Silent exm390003 4 13583934 [T/C] NM_148894 BOD1L1 EXON Missense_D2840G rs17745075 4 13584108 [A/G] NM_148894 BOD1L1 Silent variant.80272 4 13584275 [T/C] NM_148894 BOD1L1 Silent exm2256359 4 13584301 [A/G] NM_148894 BOD1L1 EXON Synonymous_T2831T exm2066056 4 13588039 [A/G] NM_148894 BOD1L1 EXON Missense_T2805M exm390011 4 13590380 [A/G] NM_148894 BOD1L1 EXON Missense_I2749T exm390016 4 13592033 [T/C] NM_148894 BOD1L1 EXON Missense_H2729R exm2066065 4 13600588 [T/C] NM_148894 BOD1L1 EXON Missense_E2646K exm2066067 4 13600728 [T/C] NM_148894 BOD1L1 EXON Missense_C2599Y exm2274000 4 13600910 [A/G] NM_148894 BOD1L1 EXON Synonymous_D2538D exm390041 4 13600953 [T/C] NM_148894 BOD1L1 EXON Missense_R2524H exm390044 4 13600993 [T/G] NM_148894 BOD1L1 EXON Missense_T2511P exm390048 4 13601079 [G/C] NM_148894 BOD1L1 EXON Missense_G2482A exm390052 4 13601182 [G/C] NM_148894 BOD1L1 EXON Missense_G2448R exm390063 4 13601329 [T/C] NM_148894 BOD1L1 EXON Missense_V2399M exm390066 4 13601337 [A/G] NM_148894 BOD1L1 EXON Missense_P2396L exm390067 4 13601341 [T/C] NM_148894 BOD1L1 EXON Missense_E2395K exm390071 4 13601443 [T/C] NM_148894 BOD1L1 EXON Missense_G2361S exm390077 4 13601506 [T/C] NM_148894 BOD1L1 EXON Missense_I2340V exm2256361 4 13601654 [G/C] NM_148894 BOD1L1 EXON Synonymous_T2290T exm2066077 4 13601679 [A/G] NM_148894 BOD1L1 EXON Missense_T2282I variant.80274 4 13601782 [A/C] NM_148894 BOD1L1 EXON Nonsense_E2248X exm390092 4 13601788 [T/C] NM_148894 BOD1L1 EXON Missense_V2246I exm390095 4 13601799 [T/C] NM_148894 BOD1L1 EXON Missense_R2242Q exm390101 4 13601959 [T/C] NM_148894 BOD1L1 EXON Missense_D2189N exm390103 4 13601977 [A/C] NM_148894 BOD1L1 EXON Missense_V2183F exm390109 4 13602204 [T/C] NM_148894 BOD1L1 EXON Missense_G2107D exm390110 4 13602229 [C/G] NM_148894 BOD1L1 EXON Missense_L2099V exm390111 4 13602231 [A/G] NM_148894 BOD1L1 EXON Missense_A2098V exm390113 4 13602265 [T/C] NM_148894 BOD1L1 EXON Missense_A2087T exm390123 4 13602511 [T/C] NM_148894 BOD1L1 EXON Missense_G2005R exm390125 4 13602550 [T/C] NM_148894 BOD1L1 EXON Missense_E1992K exm2066089 4 13602603 [T/C] NM_148894 BOD1L1 EXON Missense_G1974D exm390127 4 13602725 [C/G] NM_148894 BOD1L1 EXON Missense_S1933R exm2066092 4 13602838 [A/C] NM_148894 BOD1L1 EXON Missense_V1896F exm2066093 4 13602871 [T/C] NM_148894 BOD1L1 EXON Missense_T1885A exm390135 4 13602993 [A/G] NM_148894 BOD1L1 EXON Missense_V1844A exm2066094 4 13603003 [T/C] NM_148894 BOD1L1 EXON Missense_V1841I exm390136 4 13603038 [A/G] NM_148894 BOD1L1 EXON Missense_A1829V exm390142 4 13603200 [T/G] NM_148894 BOD1L1 EXON Missense_Q1775P exm390145 4 13603373 [G/C] NM_148894 BOD1L1 EXON Missense_M1717I exm390150 4 13603591 [T/C] NM_148894 BOD1L1 EXON Missense_V1645I exm390154 4 13603606 [T/C] NM_148894 BOD1L1 EXON Missense_A1640T exm390158 4 13603690 [T/C] NM_148894 BOD1L1 EXON Missense_E1612K exm390165 4 13603827 [T/C] NM_148894 BOD1L1 EXON Missense_G1566E exm390169 4 13603981 [T/C] NM_148894 BOD1L1 EXON Missense_T1515A exm390170 4 13603984 [T/C] NM_148894 BOD1L1 EXON Missense_K1514E exm390174 4 13604034 [T/C] NM_148894 BOD1L1 EXON Missense_Q1497R exm390182 4 13604163 [G/C] NM_148894 BOD1L1 EXON Missense_T1454S exm390183 4 13604182 [T/C] NM_148894 BOD1L1 EXON Missense_T1448A exm2066102 4 13604347 [T/C] NM_148894 BOD1L1 EXON Missense_V1393M exm390190 4 13604418 [C/G] NM_148894 BOD1L1 EXON Missense_A1369G indel.80275 4 13604428 [D/I] NM_148894 BOD1L1 EXON exm390192 4 13604482 [T/C] NM_148894 BOD1L1 EXON Missense_E1348K exm390193 4 13604490 [T/C] NM_148894 BOD1L1 EXON Missense_E1345G exm390200 4 13604644 [T/C] NM_148894 BOD1L1 EXON Missense_E1294K exm390202 4 13604679 [A/G] NM_148894 BOD1L1 EXON Missense_P1282L exm390209 4 13604977 [G/C] NM_148894 BOD1L1 EXON Missense_P1183A exm390210 4 13604978 [G/C] NM_148894 BOD1L1 EXON Missense_K1182N exm390211 4 13605040 [T/C] NM_148894 BOD1L1 EXON Missense_V1162I exm390215 4 13605166 [T/C] NM_148894 BOD1L1 EXON Missense_M1120V exm390216 4 13605201 [G/C] NM_148894 BOD1L1 EXON Missense_S1108T exm390220 4 13605304 [A/G] NM_148894 BOD1L1 EXON Missense_R1074W exm390235 4 13605618 [C/G] NM_148894 BOD1L1 EXON Missense_G969A exm390239 4 13605733 [T/C] NM_148894 BOD1L1 EXON Missense_G931S exm390240 4 13605780 [T/A] NM_148894 BOD1L1 EXON Missense_K915I exm2066112 4 13605887 [T/G] NM_148894 BOD1L1 EXON Missense_D879E exm2240448 4 13606440 [G/C] NM_148894 BOD1L1 EXON Missense_S695T exm390275 4 13606576 [T/A] NM_148894 BOD1L1 EXON Missense_L650I exm390277 4 13606600 [T/C] NM_148894 BOD1L1 EXON Missense_D642N exm390283 4 13608741 [T/C] NM_148894 BOD1L1 EXON Synonymous_E605E variant.80278 4 13610149 [T/C] NM_148894 BOD1L1 Silent exm390284 4 13610209 [A/G] NM_148894 BOD1L1 EXON Missense_R563W exm2274001 4 13610925 [T/C] NM_148894 BOD1L1 EXON Missense_G533S exm390297 4 13615174 [A/G] NM_148894 BOD1L1 EXON Missense_T429M indel.80279 4 13615982 [D/I] NM_148894 BOD1L1 EXON exm390309 4 13616104 [T/C] NM_148894 BOD1L1 EXON Missense_H297R exm2066124 4 13616129 [T/C] NM_148894 BOD1L1 EXON Missense_E289K exm390324 4 13616981 [T/C] NM_148894 BOD1L1 EXON Missense_T172A rs4235372 4 13625648 [T/C] NM_148894 BOD1L1 Silent exm390334 4 13629046 [T/C] NM_148894 BOD1L1 EXON Missense_M56V rs1388300 4 13677430 [T/C] rs2058579 4 13689343 [T/G] rs1491262 4 13692300 [T/C] rs11727013 4 13706858 [T/C] rs10025528 4 13713538 [T/C] rs875373 4 13715903 [A/G] rs10489085 4 13717262 [A/G] rs10084768 4 13719489 [A/G] rs9994682 4 13733371 [T/C] rs7688193 4 13735895 [A/G] rs759261 4 13737915 [A/G] rs2270279 4 13755011 [T/G] rs3931694 4 13761641 [A/G] rs1472092 4 13782594 [T/C] rs1158808 4 13783235 [T/C] exm-rs10489087 4 13794416 [A/G] rs10939508 4 13799857 [T/C] rs7684636 4 13807335 [T/C] rs10007245 4 13812406 [T/C] rs7697386 4 13818881 [A/G] rs4395500 4 13824647 [T/C] rs887924 4 13825610 [T/C] rs2160118 4 13840539 [T/C] rs2160120 4 13841321 [T/G] rs4698178 4 13855897 [A/G] rs1861135 4 13861249 [A/G] rs2867578 4 13877759 [T/C] rs1157531 4 13882785 [T/C] rs1397623 4 13887783 [T/C] rs1606082 4 13896514 [T/C] rs807780 4 13902266 [T/G] rs10805321 4 13914373 [A/C] rs4698655 4 13915477 [T/C] rs13112792 4 13921238 [T/C] rs527313 4 13922335 [A/G] rs564771 4 13932083 [A/G] rs971079 4 13951077 [A/G] rs504227 4 13963977 [T/C] rs1444152 4 13975619 [T/C] rs541373 4 13977266 [T/G] rs535932 4 13988911 [A/C] rs576093 4 13996896 [A/G] rs10008925 4 14001392 [A/G] exm2256371 4 14017269 [A/G] rs794095 4 14024946 [T/C] rs518592 4 14026281 [A/G] rs1877147 4 14037934 [A/G] rs3857159 4 14056930 [T/C] rs10516272 4 14064059 [A/G] rs9917971 4 14077835 [A/G] rs3846386 4 14102069 [T/C] rs17402733 4 14117252 [T/G] NR_033931 LOC152742 Silent rs3846401 4 14127483 [A/G] NR_033931 LOC152742 Silent rs3846407 4 14131925 [T/G] NR_033931 LOC152742 Silent rs7670043 4 14138415 [T/C] NR_033931 LOC152742 Silent rs2912200 4 14143365 [T/C] rs4698716 4 14148374 [T/C] rs34855554 4 14152469 [T/C] rs6830592 4 14158921 [T/C] rs10024326 4 14164082 [A/C] rs3096592 4 14165975 [T/G] rs2903626 4 14167059 [T/C] rs12499480 4 14167488 [A/G] rs2004908 4 14183204 [A/G] rs6846915 4 14185184 [A/G] rs3096587 4 14188496 [A/G] rs9998508 4 14193608 [A/G] rs12512931 4 14198023 [T/C] rs890299 4 14204807 [T/G] rs3111828 4 14222240 [T/G] rs10017183 4 14232056 [T/C] rs16889917 4 14245329 [T/C] rs10470841 4 14250959 [A/G] rs2052711 4 14259503 [A/G] rs3096581 4 14263549 [T/C] rs13108994 4 14267241 [T/C] rs890300 4 14269174 [T/C] rs16889955 4 14273807 [A/G] rs1991268 4 14277183 [T/C] rs16890027 4 14280282 [A/G] rs6826155 4 14280826 [A/G] rs2079949 4 14296613 [T/C] rs2554377 4 14306031 [T/C] rs2903643 4 14312197 [A/G] rs6449012 4 14317116 [A/G] rs758877 4 14320086 [A/C] rs4698729 4 14327348 [T/C] rs6827530 4 14330468 [A/G] rs4698732 4 14338342 [T/C] rs4140926 4 14340073 [T/C] rs9996349 4 14350981 [A/G] rs2109678 4 14355389 [T/C] rs10155152 4 14359888 [T/G] rs758878 4 14367070 [T/C] rs6449020 4 14369076 [T/C] rs16890321 4 14370747 [T/C] rs17466384 4 14373371 [A/C] rs6839912 4 14384751 [A/G] rs1860673 4 14385809 [T/C] rs16890379 4 14391806 [A/G] rs6449024 4 14397827 [A/G] rs12331778 4 14400376 [A/G] rs2109673 4 14403377 [A/G] rs7693669 4 14433990 [A/G] rs6824715 4 14438997 [A/C] rs1875355 4 14442252 [A/G] rs6449031 4 14442433 [T/C] rs1909917 4 14472634 [T/G] rs13152405 4 14497339 [A/G] rs13130965 4 14500927 [T/C] rs10939557 4 14505552 [T/C] rs16890598 4 14511712 [T/C] exm2261625 4 14513781 [A/C] rs905043 4 14539140 [T/G] rs747978 4 14539436 [T/C] rs11939104 4 14540251 [T/C] rs16868209 4 14556388 [T/G] rs1875358 4 14557480 [A/C] rs16890684 4 14572063 [T/C] rs16890738 4 14582702 [A/G] rs6847363 4 14592876 [T/C] rs1501170 4 14602461 [T/C] rs9996860 4 14617465 [A/G] rs764759 4 14660073 [T/C] rs956518 4 14660437 [A/G] rs3891377 4 14678186 [A/C] rs11932201 4 14695432 [T/G] rs4698281 4 14699227 [T/C] rs4327484 4 14700515 [T/C] rs4515159 4 14727209 [T/C] rs10016726 4 14733772 [A/G] exm2269720 4 14745825 [T/C] rs11724609 4 14745825 [T/C] rs4577572 4 14751518 [T/C] rs6846158 4 14764460 [A/G] rs4568238 4 14769762 [A/C] rs4364258 4 14771119 [T/C] rs4342182 4 14771349 [T/G] exm2265820 4 14790478 [A/G] rs4298137 4 14803794 [T/C] rs13121851 4 14804417 [A/G] rs11731529 4 14811750 [T/C] rs13145996 4 14811962 [T/C] rs4698295 4 14812935 [T/C] rs10939594 4 14837288 [A/C] rs7695275 4 14840148 [T/C] exm-rs6818066 4 14848030 [A/C] rs1316686 4 14853491 [A/G] rs4698299 4 14863713 [T/C] rs6850085 4 14866685 [A/C] rs11726071 4 14872639 [T/C] rs923983 4 14874104 [T/C] rs13138689 4 14874745 [A/G] rs6858687 4 14876427 [T/C] rs9884305 4 14888787 [A/G] rs750703 4 14903605 [A/C] rs11931562 4 14904847 [T/C] rs10022899 4 14919063 [T/C] NR_038857 LOC441009 Silent rs13119988 4 14921247 [T/C] NR_038857 LOC441009 Silent rs12646389 4 14927008 [T/C] NR_038857 LOC441009 Silent rs12498517 4 14929433 [T/C] NR_038857 LOC441009 Silent rs11722368 4 14934107 [T/C] NR_038857 LOC441009 Silent rs1494948 4 14972561 [T/C] NR_038857 LOC441009 Silent rs7661252 4 14981989 [T/C] NR_038857 LOC441009 Silent rs13117049 4 14990889 [T/G] NR_038857 LOC441009 Silent exm390341 4 15004499 [T/C] NM_001177384,NM_182646,NM_001177382,NM_001177383,NM_001177381,NM_182485 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 EXON Missense_P68S,Missense_P68S,Missense_P68S,Missense_P68S,Missense_P68S,Missense_P68S exm2067203 4 15009020 [A/C] NM_001177384,NM_182646,NM_001177382,NM_001177383,NM_001177381,NM_182485 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 EXON Missense_H585P,Missense_H585P,Missense_H585P,Missense_H585P,Missense_H585P,Missense_H585P exm390364 4 15009083 [G/C] NM_001177384,NM_182646,NM_001177382,NM_001177383,NM_001177381,NM_182485 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 EXON Missense_P606R,Missense_P606R,Missense_P606R,Missense_P606R,Missense_P606R,Missense_P606R exm390366 4 15009122 [A/G] NM_001177384,NM_182646,NM_001177382,NM_001177383,NM_001177381,NM_182485 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 EXON Missense_R619H,Missense_R619H,Missense_R619H,Missense_R619H,Missense_R619H,Missense_R619H indel.80283 4 15009219 [D/I] NM_001177384,NM_182646,NM_001177382,NM_001177383,NM_001177381,NM_182485 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 EXON exm390375 4 15018863 [G/C] NM_001177384,NM_182646,NM_001177382,NM_001177383,NM_001177381,NM_182485 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 EXON Missense_L669V,Missense_L666V,Missense_L696V,Missense_L666V,Missense_L669V,Missense_L696V variant.80285 4 15018907 [A/G] NM_001177384,NM_182646,NM_001177382,NM_001177383,NM_001177381,NM_182485 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 Silent,Silent,Silent,Silent,Silent,Silent rs13140166 4 15028262 [A/G] NM_001177384,NM_182646,NM_001177382,NM_001177383,NM_001177381,NM_182485 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 Silent,Silent,Silent,Silent,Silent,Silent rs2604573 4 15038411 [T/C] NM_001177384,NM_182646,NM_001177382,NM_001177383,NM_001177381,NM_182485 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 Silent,Silent,Silent,Silent,Silent,Silent rs2604578 4 15045896 [A/G] NM_001177384,NM_182646,NM_001177382,NM_001177383,NM_001177381,NM_182485 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 Silent,Silent,Silent,Silent,Silent,Silent rs17450086 4 15051670 [A/G] NM_001177384,NM_182646,NM_001177382,NM_001177383,NM_001177381,NM_182485 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 Silent,Silent,Silent,Silent,Silent,Silent exm390383 4 15063727 [A/G] NM_001177384,NM_182646,NM_001177382,NM_001177383,NM_001177381,NM_182485 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 EXON Missense_R872Q,Missense_R869Q,Missense_R907Q,Missense_R877Q,Missense_R880Q,Missense_R899Q rs3749570 4 15067580 [T/G] NM_001177384,NM_182646,NM_001177382,NM_001177383,NM_001177381,NM_182485 CPEB2,CPEB2,CPEB2,CPEB2,CPEB2,CPEB2 Silent,Silent,Silent,Silent,Silent,Silent rs11729197 4 15101916 [A/G] rs1455208 4 15102887 [A/G] rs12646901 4 15102929 [T/C] rs7687891 4 15104690 [T/C] rs1378341 4 15118979 [T/C] rs11721627 4 15127630 [A/G] exm2265673 4 15127630 [A/G] rs1455207 4 15128633 [A/G] rs17452586 4 15143489 [T/C] rs2604562 4 15145180 [A/C] rs13146533 4 15146875 [A/G] rs1455202 4 15154795 [A/G] rs1817186 4 15167548 [A/G] rs3857144 4 15167726 [T/C] rs974179 4 15175036 [A/G] rs10155296 4 15175539 [A/G] rs10014445 4 15181885 [T/C] rs731978 4 15194513 [T/C] rs4309834 4 15204833 [T/C] rs1869696 4 15210204 [A/C] rs16891600 4 15210390 [T/C] rs6449117 4 15223639 [A/G] rs11737782 4 15227612 [A/G] rs6811795 4 15243220 [A/C] rs13144510 4 15254268 [A/C] rs4698099 4 15254870 [T/G] rs6845088 4 15262507 [T/C] rs35315148 4 15295105 [T/C] exm2240545 4 15341829 [A/G] NM_001135170 C1QTNF7 EXON Missense_Q4R rs13139715 4 15353889 [A/G] NM_001135170 C1QTNF7 Silent rs16891785 4 15369280 [A/C] NM_001135170 C1QTNF7 Silent rs4408956 4 15375918 [A/C] NM_001135170 C1QTNF7 Silent rs4303974 4 15375984 [A/C] NM_001135170 C1QTNF7 Silent rs4698103 4 15379272 [A/C] NM_001135170,NM_001135171 C1QTNF7,C1QTNF7 Silent,Silent rs6449134 4 15380517 [T/G] NM_001135170,NM_001135171 C1QTNF7,C1QTNF7 Silent,Silent exm-rs6449134 4 15380517 [T/G] NM_001135170,NM_001135171 C1QTNF7,C1QTNF7 Silent,Silent rs16891829 4 15380910 [T/C] NM_001135170,NM_001135171 C1QTNF7,C1QTNF7 Silent,Silent exm-rs16891867 4 15397364 [A/G] NM_001135170,NM_001135171 C1QTNF7,C1QTNF7 Silent,Silent exm-rs1861046 4 15397906 [A/G] NM_001135170,NM_001135171 C1QTNF7,C1QTNF7 Silent,Silent rs1861046 4 15397906 [A/G] NM_001135170,NM_001135171 C1QTNF7,C1QTNF7 Silent,Silent rs6449138 4 15409103 [A/G] NM_001135170,NM_001135171 C1QTNF7,C1QTNF7 Silent,Silent rs2192355 4 15420679 [T/C] NM_001135170,NM_001135171 C1QTNF7,C1QTNF7 Silent,Silent rs2192356 4 15424591 [A/G] NM_001135170,NM_001135171 C1QTNF7,C1QTNF7 Silent,Silent exm390410 4 15443827 [A/G] NM_001135170,NM_001135171,NM_031911 C1QTNF7,C1QTNF7,C1QTNF7 EXON Missense_G99S,Missense_G92S,Missense_G92S exm390416 4 15443939 [T/A] NM_001135170,NM_001135171,NM_031911 C1QTNF7,C1QTNF7,C1QTNF7 EXON Missense_E136V,Missense_E129V,Missense_E129V exm2067691 4 15444077 [A/G] NM_001135170,NM_001135171,NM_031911 C1QTNF7,C1QTNF7,C1QTNF7 EXON Missense_G182E,Missense_G175E,Missense_G175E exm390431 4 15444181 [A/C] NM_001135170,NM_001135171,NM_031911 C1QTNF7,C1QTNF7,C1QTNF7 EXON Missense_L217M,Missense_L210M,Missense_L210M exm390433 4 15444203 [A/G] NM_001135170,NM_001135171,NM_031911 C1QTNF7,C1QTNF7,C1QTNF7 EXON Missense_R224Q,Missense_R217Q,Missense_R217Q exm390436 4 15444220 [A/G] NM_001135170,NM_001135171,NM_031911 C1QTNF7,C1QTNF7,C1QTNF7 EXON Missense_A230T,Missense_A223T,Missense_A223T exm390442 4 15444361 [A/G] NM_001135170,NM_001135171,NM_031911 C1QTNF7,C1QTNF7,C1QTNF7 EXON Missense_G277R,Missense_G270R,Missense_G270R exm390444 4 15444400 [A/G] NM_001135170,NM_001135171,NM_031911 C1QTNF7,C1QTNF7,C1QTNF7 EXON Missense_I290V,Missense_I283V,Missense_I283V rs2314590 4 15445533 [T/C] NM_001135170,NM_001135171,NM_031911 C1QTNF7,C1QTNF7,C1QTNF7 EXON Silent,Silent,Silent rs2314589 4 15451255 [T/C] rs16891991 4 15456666 [A/G] rs722235 4 15460334 [T/C] rs719993 4 15467035 [A/G] rs9993580 4 15480225 [A/C] NM_020785,NM_001164720,NM_001080522 CC2D2A,CC2D2A,CC2D2A Silent,Silent,Silent variant.80290 4 15480921 [A/G] NM_020785,NM_001164720,NM_001080522 CC2D2A,CC2D2A,CC2D2A EXON Nonsense_W66X,Silent,Silent exm390459 4 15482360 [T/C] NM_020785,NM_001164720,NM_001080522 CC2D2A,CC2D2A,CC2D2A EXON Nonsense_R88X,Synonymous_S52S,Synonymous_S52S rs4698112 4 15487432 [A/G] NM_001080522 CC2D2A Silent exm2256417 4 15499251 [T/C] NM_001080522 CC2D2A Silent rs7682982 4 15501503 [A/G] NM_001080522 CC2D2A Silent indel.80293 4 15504095 [I/D] NM_001080522 CC2D2A EXON variant.80295 4 15504444 [A/G] NM_001080522 CC2D2A Silent exm390468 4 15504459 [T/G] NM_001080522 CC2D2A EXON Missense_S117R rs1154578 4 15507032 [T/C] NM_001080522 CC2D2A Silent exm390475 4 15511824 [T/G] NM_001080522 CC2D2A EXON Missense_K167N variant.80297 4 15511840 [T/C] NM_001080522 CC2D2A EXON Nonsense_R173X exm390479 4 15512919 [T/C] NM_001080522 CC2D2A EXON Missense_F197S exm390481 4 15512942 [A/G] NM_001080522 CC2D2A EXON Missense_G205R newrs112367037 4 15513005 [I/D] NM_001080522 CC2D2A EXON exm390487 4 15516333 [A/G] NM_001080522 CC2D2A EXON Missense_E241K exm2256420 4 15516398 [T/C] NM_001080522 CC2D2A EXON Synonymous_D262D exm390497 4 15517532 [T/C] NM_001080522 CC2D2A EXON Missense_F308L exm390500 4 15517628 [A/G] NM_001080522 CC2D2A Silent exm390504 4 15518357 [A/C] NM_001080522 CC2D2A EXON Missense_E376A rs16892095 4 15518357 [A/C] NM_001080522 CC2D2A EXON Missense_E376A rs16892107 4 15522209 [T/C] NM_001080522 CC2D2A Silent rs13131119 4 15522282 [T/C] NM_001080522 CC2D2A Silent rs7675761 4 15527808 [A/G] NM_001080522 CC2D2A Silent exm390505 4 15529082 [A/G] NM_001080522 CC2D2A EXON Missense_V388I exm390519 4 15534868 [A/G] NM_001080522 CC2D2A EXON Missense_K507E exm390522 4 15538626 [T/C] NM_001080522 CC2D2A EXON Missense_T564M newrs116358011 4 15538697 [T/C] NM_001080522 CC2D2A EXON Nonsense_Q588X exm390530 4 15539594 [A/G] NM_001080522 CC2D2A EXON Missense_E613K exm2067952 4 15539735 [A/G] NM_001080522 CC2D2A EXON Missense_V660I rs6812708 4 15541609 [A/G] NM_001080522 CC2D2A Silent exm390537 4 15542495 [A/G] NM_001080522 CC2D2A EXON Missense_R680H exm2240580 4 15542573 [A/G] NM_001080522 CC2D2A EXON Missense_R706Q exm390541 4 15542617 [T/C] NM_001080522 CC2D2A EXON Missense_P721S exm390546 4 15552591 [A/G] NM_001080522 CC2D2A EXON Missense_G776R exm390553 4 15554918 [A/G] NM_001080522 CC2D2A EXON Missense_G826R exm390557 4 15556805 [A/G] NM_001080522 CC2D2A EXON Missense_N866S rs13144428 4 15557442 [A/C] NM_001080522 CC2D2A Silent exm390560 4 15559075 [A/G] NM_001080522 CC2D2A EXON Missense_R925Q exm390562 4 15559105 [A/G] NM_001080522 CC2D2A EXON Missense_R935Q exm2068070 4 15560840 [T/C] NM_001080522 CC2D2A EXON Missense_I961T exm390566 4 15560843 [A/G] NM_001080522 CC2D2A EXON Missense_D962G exm390567 4 15562176 [A/G] NM_001080522 CC2D2A EXON Missense_R982H exm390579 4 15565120 [A/G] NM_001080522 CC2D2A EXON Missense_I1053V exm390584 4 15569097 [G/C] NM_001080522 CC2D2A EXON Missense_L1094V rs13116304 4 15569146 [A/C] NM_001080522 CC2D2A Silent indel.80304 4 15569299 [D/I] NM_001080522 CC2D2A exm390596 4 15572034 [A/G] NM_001080522 CC2D2A EXON Missense_R1170K var_4_15572069 4 15572069 [T/C] NM_001080522 CC2D2A EXON Missense_W1182R exm390600 4 15572102 [A/G] NM_001080522 CC2D2A EXON Missense_I1193V rs12649803 4 15577587 [A/G] NM_001080522 CC2D2A Silent rs12500587 4 15580754 [T/G] NM_001080522 CC2D2A Silent var_4_15581590 4 15581590 [I/D] NM_001080522 CC2D2A exm390603 4 15581688 [T/C] NM_001080522 CC2D2A EXON Missense_V1290A indel.80309 4 15581710 [D/I] NM_001080522 CC2D2A EXON indel.80311 4 15589552 [D/I] NM_001080522 CC2D2A EXON exm390608 4 15591190 [C/G] NM_001080522 CC2D2A EXON Missense_T1401S exm2274002 4 15591226 [A/G] NM_001080522 CC2D2A EXON Missense_C1413Y variant.80312 4 15597778 [A/G] NM_001080522 CC2D2A EXON Nonsense_W1462X exm390614 4 15599051 [T/C] NM_001080522 CC2D2A EXON Missense_R1487C variant.80313 4 15599090 [T/C] NM_001080522 CC2D2A Silent exm390617 4 15601208 [A/G] NM_001080522 CC2D2A EXON Missense_R1518Q exm390623 4 15602914 [A/G] NM_001080522 CC2D2A EXON Missense_A1577T exm390634 4 15603037 [T/C] NM_001080522 CC2D2A EXON Missense_R1618C rs10008376 4 15623955 [T/C] NM_001193535,NM_012161,NM_001193534,NR_036464 FBXL5,FBXL5,FBXL5,FBXL5 Silent,Silent,Silent,Silent exm390646 4 15626941 [T/A] NM_001193535,NM_012161,NM_001193534,NR_036464 FBXL5,FBXL5,FBXL5,FBXL5 EXON Missense_E578V,Missense_E595V,Missense_E594V,Silent exm390654 4 15627127 [A/C] NM_001193535,NM_012161,NM_001193534,NR_036464 FBXL5,FBXL5,FBXL5,FBXL5 EXON Missense_C516F,Missense_C533F,Missense_C532F,Silent exm390663 4 15627436 [A/G] NM_001193535,NM_012161,NM_001193534,NR_036464 FBXL5,FBXL5,FBXL5,FBXL5 EXON Missense_A413V,Missense_A430V,Missense_A429V,Silent exm390669 4 15627568 [T/C] NM_001193535,NM_012161,NM_001193534,NR_036464 FBXL5,FBXL5,FBXL5,FBXL5 EXON Missense_R369Q,Missense_R386Q,Missense_R385Q,Silent exm2274003 4 15628518 [T/C] NM_001193535,NM_012161,NM_001193534,NR_036464 FBXL5,FBXL5,FBXL5,FBXL5 EXON Missense_I351V,Missense_I368V,Missense_I367V,Silent rs6826058 4 15630737 [T/C] NM_001193535,NM_012161,NM_001193534,NR_036464 FBXL5,FBXL5,FBXL5,FBXL5 Silent,Silent,Silent,Silent rs10022610 4 15637487 [T/G] NM_001193535,NM_012161,NM_001193534,NR_036464 FBXL5,FBXL5,FBXL5,FBXL5 Silent,Silent,Silent,Silent indel.80317 4 15638161 [I/D] NM_001193535,NM_012161,NM_001193534,NR_036464 FBXL5,FBXL5,FBXL5,FBXL5 EXON exm390692 4 15638225 [A/G] NM_001193535,NM_012161,NM_001193534,NR_036464 FBXL5,FBXL5,FBXL5,FBXL5 EXON Missense_L203F,Missense_L220F,Missense_L219F,Silent exm390693 4 15638237 [T/C] NM_001193535,NM_012161,NM_001193534,NR_036464 FBXL5,FBXL5,FBXL5,FBXL5 EXON Missense_I199V,Missense_I216V,Missense_I215V,Silent rs6827406 4 15639171 [T/C] NM_001193535,NM_012161,NM_001193534,NR_036464 FBXL5,FBXL5,FBXL5,FBXL5 Silent,Silent,Silent,Silent rs13133213 4 15646794 [A/G] NM_001193535,NM_012161,NM_001193534,NR_036464 FBXL5,FBXL5,FBXL5,FBXL5 Silent,Silent,Silent,Silent exm390729 4 15656897 [A/G] NM_001193535,NM_012161,NM_001193534,NR_036464 FBXL5,FBXL5,FBXL5,FBXL5 EXON Missense_P5L,Missense_P5L,Missense_P5L,Silent rs10939630 4 15658481 [A/G] exm390732 4 15688604 [G/C] NM_001145191 FAM200B EXON Missense_D2H exm390739 4 15689069 [T/G] NM_001145191 FAM200B EXON Missense_V157L exm390742 4 15689208 [A/G] NM_001145191 FAM200B EXON Missense_R203Q exm390747 4 15689435 [T/C] NM_001145191 FAM200B EXON Missense_R279C exm390749 4 15689580 [T/A] NM_001145191 FAM200B EXON Missense_F327Y exm390754 4 15689759 [T/C] NM_001145191 FAM200B EXON Missense_R387C exm390758 4 15689928 [A/G] NM_001145191 FAM200B EXON Missense_S443N variant.80323 4 15689990 [T/C] NM_001145191 FAM200B EXON Nonsense_R464X exm390773 4 15690460 [T/G] NM_001145191 FAM200B EXON Missense_Q620H exm390789 4 15707179 [T/C] NM_004334 BST1 EXON Missense_A77V exm390792 4 15707208 [T/C] NM_004334 BST1 EXON Missense_P87S exm390795 4 15707250 [A/G] NM_004334 BST1 EXON Missense_I101V variant.80324 4 15707269 [T/C] NM_004334 BST1 Silent variant.80325 4 15709133 [A/G] NM_004334 BST1 Silent exm390798 4 15709176 [A/G] NM_004334 BST1 EXON Missense_A120T exm390800 4 15709188 [T/C] NM_004334 BST1 EXON Missense_R124C exm390801 4 15709192 [A/G] NM_004334 BST1 EXON Missense_R125H exm390805 4 15709252 [A/G] NM_004334 BST1 EXON Missense_R145Q rs4541502 4 15712787 [T/G] NM_004334 BST1 Silent newrs141013660 4 15713513 [A/G] NM_004334 BST1 Silent exm390811 4 15713513 [A/G] NM_004334 BST1 Silent variant.80327 4 15713517 [T/C] NM_004334 BST1 Silent exm390814 4 15716923 [T/G] NM_004334 BST1 EXON Missense_S184A exm2240606 4 15717412 [A/G] NM_004334 BST1 EXON Missense_G232R exm390825 4 15720540 [A/G] NM_004334 BST1 EXON Missense_G239R variant.80330 4 15720615 [T/C] NM_004334 BST1 EXON Nonsense_R264X variant.80331 4 15720616 [A/G] NM_004334 BST1 EXON Missense_R264Q rs9942275 4 15723526 [A/G] NM_004334 BST1 Silent exm390830 4 15724520 [A/G] NM_004334 BST1 EXON Missense_V272M rs11931532 4 15725766 [T/C] NM_004334 BST1 Silent rs4698412 4 15737348 [A/G] exm-rs4698412 4 15737348 [A/G] exm-rs4538475 4 15737937 [A/G] rs997250 4 15739498 [A/G] rs6852450 4 15742986 [T/C] rs10019008 4 15743573 [T/C] rs11933202 4 15744528 [A/G] rs6837105 4 15753687 [A/G] rs868763 4 15755905 [T/C] rs10002171 4 15767752 [T/C] rs11945730 4 15773008 [A/G] rs16892407 4 15773936 [A/G] rs6831585 4 15776181 [A/G] exm390838 4 15780058 [C/G] NM_001775 CD38 EXON Missense_S7R exm390839 4 15780060 [T/C] NM_001775 CD38 EXON Missense_P8L exm390842 4 15780090 [T/G] NM_001775 CD38 EXON Missense_L18R exm390844 4 15780218 [T/G] NM_001775 CD38 EXON Nonsense_E61X exm390845 4 15780219 [T/A] NM_001775 CD38 EXON Missense_E61V exm390846 4 15780222 [T/C] NM_001775 CD38 EXON Missense_T62I exm390847 4 15780233 [T/C] NM_001775 CD38 EXON Nonsense_R66X rs7666953 4 15791464 [T/G] NM_001775 CD38 Silent rs16892418 4 15810779 [T/G] NM_001775 CD38 Silent exm390857 4 15818240 [A/G] NM_001775 CD38 EXON Missense_T114A rs3796868 4 15818391 [A/G] NM_001775 CD38 Silent exm390862 4 15826558 [T/C] NM_001775 CD38 EXON Missense_R140W exm390864 4 15826583 [T/C] NM_001775 CD38 EXON Missense_T148M exm390870 4 15826640 [T/G] NM_001775 CD38 Silent newrs1800051 4 15835844 [A/C] NM_001775 CD38 EXON Synonymous_I168I variant.80338 4 15835851 [T/C] NM_001775 CD38 EXON Nonsense_Q171X exm390873 4 15835863 [T/G] NM_001775 CD38 EXON Missense_D175Y exm390874 4 15835876 [A/G] NM_001775 CD38 EXON Missense_D179G variant.80339 4 15835907 [A/G] NM_001775 CD38 EXON Nonsense_W189X exm390880 4 15835921 [A/G] NM_001775 CD38 EXON Missense_R194H indel.80340 4 15839746 [I/D] NM_001775 CD38 EXON newrs950566 4 15839793 [A/G] NM_001775 CD38 Silent rs10805347 4 15840839 [A/G] NM_001775 CD38 Silent exm390888 4 15842075 [T/A] NM_001775 CD38 EXON Missense_R251S rs6813018 4 15849801 [T/C] NM_001775 CD38 Silent rs13137313 4 15851968 [A/G] rs3733593 4 15854725 [A/G] rs2531166 4 15874104 [A/G] rs16892515 4 15879317 [A/G] rs758327 4 15883763 [A/G] rs2191003 4 15895791 [A/G] rs727488 4 15896341 [T/C] rs2532070 4 15910385 [A/G] rs12498177 4 15914801 [T/C] rs4698424 4 15915036 [A/C] rs876320 4 15930961 [A/G] rs2532098 4 15934723 [T/G] rs12503130 4 15935268 [T/C] exm390899 4 15937562 [T/A] NM_005130 FGFBP1 EXON Missense_T232S variant.80343 4 15937590 [T/G] NM_005130 FGFBP1 EXON Nonsense_C222X exm390903 4 15937670 [T/C] NM_005130 FGFBP1 EXON Missense_E196K exm390907 4 15937711 [T/G] NM_005130 FGFBP1 EXON Missense_S182Y rs2072313 4 15937731 [T/C] NM_005130 FGFBP1 EXON Synonymous_K175K exm390912 4 15937789 [A/G] NM_005130 FGFBP1 EXON Missense_F156S exm390913 4 15937813 [A/T] NM_005130 FGFBP1 EXON Missense_L148H exm390915 4 15937856 [C/G] NM_005130 FGFBP1 EXON Missense_V134L exm390917 4 15937916 [T/C] NM_005130 FGFBP1 EXON Missense_K114E exm390920 4 15937990 [T/A] NM_005130 FGFBP1 EXON Missense_D89V exm390924 4 15938039 [T/C] NM_005130 FGFBP1 EXON Missense_T73A exm390926 4 15938068 [T/G] NM_005130 FGFBP1 EXON Missense_K63T exm390931 4 15938107 [T/C] NM_005130 FGFBP1 EXON Missense_Q50R rs9968276 4 15949551 [A/G] rs6835120 4 15956364 [A/C] rs4698429 4 15957763 [A/G] rs4698431 4 15961555 [A/G] rs2286460 4 15964040 [A/G] NM_031950 FGFBP2 Silent exm390942 4 15964090 [T/G] NM_031950 FGFBP2 EXON Missense_F221L exm390945 4 15964134 [A/C] NM_031950 FGFBP2 EXON Missense_W207G exm390947 4 15964176 [T/C] NM_031950 FGFBP2 EXON Missense_G193R exm390955 4 15964245 [T/C] NM_031950 FGFBP2 EXON Missense_E170K exm390958 4 15964349 [A/C] NM_031950 FGFBP2 EXON Missense_G135V exm390963 4 15964424 [A/G] NM_031950 FGFBP2 EXON Missense_P110L exm390966 4 15964451 [T/C] NM_031950 FGFBP2 EXON Missense_R101H exm390972 4 15964574 [T/C] NM_031950 FGFBP2 EXON Missense_R60H exm390973 4 15964590 [T/C] NM_031950 FGFBP2 EXON Missense_G55R exm390976 4 15964670 [T/C] NM_031950 FGFBP2 EXON Missense_S28N rs11733056 4 15968139 [G/C] rs2240688 4 15970349 [T/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7669462 4 15975839 [A/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12649852 4 15982480 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10428324 4 15983317 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10428501 4 15983618 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm390999 4 15985975 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_S762G,Missense_S762G,Missense_S753G,Missense_S753G,Missense_S753G,Missense_S762G,Missense_S753G rs1990271 4 15988239 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2240685 4 15991275 [A/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.80352 4 15991448 [A/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2058147 4 15992486 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2256437 4 15992851 [A/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Synonymous_N659N,Synonymous_N659N,Synonymous_N650N,Synonymous_N650N,Synonymous_N650N,Synonymous_N659N,Synonymous_N650N exm391015 4 15992900 [C/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_A643G,Missense_A643G,Missense_A634G,Missense_A634G,Missense_A634G,Missense_A643G,Missense_A634G exm391018 4 15992916 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_T638A,Missense_T638A,Missense_T629A,Missense_T629A,Missense_T629A,Missense_T638A,Missense_T629A exm391023 4 15994002 [T/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_I594L,Missense_I594L,Missense_I585L,Missense_I585L,Missense_I585L,Missense_I594L,Missense_I585L exm391025 4 15995626 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_H584R,Missense_H584R,Missense_H575R,Missense_H575R,Missense_H575R,Missense_H584R,Missense_H575R exm391033 4 16000080 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_D537G,Missense_D537G,Missense_D528G,Missense_D528G,Missense_D528G,Missense_D537G,Missense_D528G exm391036 4 16002120 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_R526Q,Missense_R526Q,Missense_R517Q,Missense_R517Q,Missense_R517Q,Missense_R526Q,Missense_R517Q exm391037 4 16002140 [T/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Nonsense_Y519X,Nonsense_Y519X,Nonsense_Y510X,Nonsense_Y510X,Nonsense_Y510X,Nonsense_Y519X,Nonsense_Y510X exm391040 4 16002206 [A/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_L497F,Missense_L497F,Missense_L488F,Missense_L488F,Missense_L488F,Missense_L497F,Missense_L488F variant.80356 4 16002215 [T/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Nonsense_C494X,Nonsense_C494X,Nonsense_C485X,Nonsense_C485X,Nonsense_C485X,Nonsense_C494X,Nonsense_C485X exm391041 4 16002228 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_S490N,Missense_S490N,Missense_S481N,Missense_S481N,Missense_S481N,Missense_S490N,Missense_S481N exm391043 4 16008270 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_V449M,Missense_V449M,Missense_V440M,Missense_V440M,Missense_V440M,Missense_V449M,Missense_V440M exm391050 4 16010677 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_R399H,Missense_R399H,Missense_R390H,Missense_R390H,Missense_R390H,Missense_R399H,Missense_R390H exm391053 4 16010722 [G/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_R384T,Missense_R384T,Missense_R375T,Missense_R375T,Missense_R375T,Missense_R384T,Missense_R375T rs2313734 4 16011211 [A/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2531155 4 16018142 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2677789 4 16018282 [T/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm391059 4 16019985 [A/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_L321F,Missense_L321F,Missense_L312F,Missense_L312F,Missense_L312F,Missense_L321F,Missense_L312F exm391060 4 16020034 [A/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_P305L,Missense_P305L,Missense_P296L,Missense_P296L,Missense_P296L,Missense_P305L,Missense_P296L exm391064 4 16020080 [T/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_S290R,Missense_S290R,Missense_S281R,Missense_S281R,Missense_S281R,Missense_S290R,Missense_S281R exm391071 4 16020159 [C/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_I263M,Missense_I263M,Missense_I254M,Missense_I254M,Missense_I254M,Missense_I263M,Missense_I254M exm391072 4 16020162 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Synonymous_A262A,Synonymous_A262A,Synonymous_A253A,Synonymous_A253A,Synonymous_A253A,Synonymous_A262A,Synonymous_A253A exm391073 4 16024990 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_N248S,Missense_N248S,Missense_N239S,Missense_N239S,Missense_N239S,Missense_N248S,Missense_N239S variant.80359 4 16025003 [A/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Nonsense_R244X,Nonsense_R244X,Nonsense_R235X,Nonsense_R235X,Nonsense_R235X,Nonsense_R244X,Nonsense_R235X exm2261644 4 16025837 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2240623 4 16025951 [T/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_T221P,Missense_T221P,Missense_T212P,Missense_T212P,Missense_T212P,Missense_T221P,Missense_T212P rs1517599 4 16026458 [A/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.80361 4 16026823 [I/D] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON exm391081 4 16026840 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_R202Q,Missense_R202Q,Missense_R193Q,Missense_R193Q,Missense_R193Q,Missense_R202Q,Missense_R193Q exm391082 4 16026841 [C/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_R202G,Missense_R202G,Missense_R193G,Missense_R193G,Missense_R193G,Missense_R202G,Missense_R193G exm391085 4 16026921 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_Y175C,Missense_Y175C,Missense_Y166C,Missense_Y166C,Missense_Y166C,Missense_Y175C,Missense_Y166C rs884718 4 16031448 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1400771 4 16034634 [A/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm391087 4 16034999 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_R146Q,Missense_R146Q,Missense_R137Q,Missense_R137Q,Missense_R137Q,Missense_R146Q,Missense_R137Q exm391090 4 16035053 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_Y128C,Missense_Y128C,Missense_Y119C,Missense_Y119C,Missense_Y119C,Missense_Y128C,Missense_Y119C exm391092 4 16035060 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_V126M,Missense_V126M,Missense_V117M,Missense_V117M,Missense_V117M,Missense_V126M,Missense_V117M exm391095 4 16035101 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_C112Y,Missense_C112Y,Missense_C103Y,Missense_C103Y,Missense_C103Y,Missense_C112Y,Missense_C103Y rs2078622 4 16037352 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs950946 4 16038752 [T/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6823548 4 16054926 [A/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs13137175 4 16057694 [T/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10516295 4 16064027 [T/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs13150823 4 16064648 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3857152 4 16067266 [A/G] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs884227 4 16073092 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10010994 4 16076784 [A/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.80362 4 16077309 [A/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm391104 4 16077349 [T/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_I61V,Missense_I61V,Missense_I61V,Missense_I61V,Missense_I61V,Missense_I61V,Missense_I61V indel.80363 4 16077391 [D/I] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON exm391109 4 16077427 [G/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_E35Q,Missense_E35Q,Missense_E35Q,Missense_E35Q,Missense_E35Q,Missense_E35Q,Missense_E35Q exm391111 4 16077475 [A/C] NM_001145849,NM_001145850,NM_001145848,NM_001145847,NM_001145851,NM_006017,NM_001145852 PROM1,PROM1,PROM1,PROM1,PROM1,PROM1,PROM1 EXON Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A,Missense_S19A rs7656857 4 16085850 [T/C] rs1115917 4 16104248 [A/G] rs16893029 4 16105431 [T/C] rs1712493 4 16113889 [T/C] rs317881 4 16121755 [T/C] rs2120236 4 16134623 [T/C] rs317900 4 16135475 [T/C] rs11730743 4 16145588 [A/G] rs13634 4 16163209 [T/C] NM_153365 TAPT1 EXON Silent rs9946 4 16163221 [T/C] NM_153365 TAPT1 EXON Silent rs10516298 4 16164230 [T/C] NM_153365 TAPT1 EXON Silent rs7359 4 16164489 [A/G] NM_153365 TAPT1 EXON Silent exm391119 4 16165070 [T/C] NM_153365 TAPT1 EXON Missense_N522S exm391121 4 16165136 [A/G] NM_153365 TAPT1 EXON Missense_S500F rs10516297 4 16166404 [T/C] NM_153365 TAPT1 Silent rs317874 4 16183180 [A/G] NM_153365 TAPT1 Silent rs16893162 4 16185525 [A/G] NM_153365 TAPT1 Silent variant.80364 4 16189880 [T/C] NM_153365 TAPT1 EXON Synonymous_G237G exm391148 4 16193100 [A/C] NM_153365 TAPT1 EXON Missense_G166C exm391154 4 16204188 [T/G] NM_153365 TAPT1 EXON Missense_I116L rs10017532 4 16204829 [T/C] NM_153365 TAPT1 Silent rs28403341 4 16221118 [A/G] NM_153365 TAPT1 Silent rs6822469 4 16257677 [T/C] NR_027696,NR_027697 TAPT1-AS1,TAPT1-AS1 Silent,Silent rs12502603 4 16261094 [A/G] rs17559158 4 16268263 [A/G] rs16893213 4 16272456 [A/G] rs11721706 4 16281681 [A/G] rs2041540 4 16293543 [A/G] rs887649 4 16295798 [T/C] rs887648 4 16296121 [A/G] rs975777 4 16318066 [T/C] rs2041538 4 16336013 [A/G] rs13131868 4 16353313 [A/G] rs4321631 4 16354757 [T/C] rs16893392 4 16363818 [T/C] rs16893404 4 16365531 [A/G] rs11933865 4 16375164 [A/G] rs17563866 4 16390191 [A/G] rs6812305 4 16396682 [A/G] rs7662668 4 16397925 [A/G] rs1501139 4 16410294 [A/C] rs4698482 4 16410913 [T/G] rs7674517 4 16411704 [T/C] rs6449244 4 16414889 [A/G] rs7687486 4 16419601 [A/C] rs6449249 4 16419618 [A/G] rs2313547 4 16427592 [T/C] exm2265674 4 16427871 [A/G] rs1392898 4 16433770 [A/C] rs4698149 4 16447313 [A/G] rs6830747 4 16469668 [A/G] rs6449254 4 16469713 [T/C] rs6816070 4 16480357 [A/G] rs1354079 4 16487781 [A/C] rs7698804 4 16499833 [A/G] rs9993371 4 16510131 [T/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent exm391183 4 16510235 [T/C] NM_001290,NM_001130834 LDB2,LDB2 EXON Missense_A272T,Missense_A272T rs6824949 4 16513748 [T/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs10805350 4 16531401 [A/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs10805351 4 16531505 [A/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs16893606 4 16537510 [A/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs13133023 4 16550094 [A/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs12233679 4 16551836 [T/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs16893622 4 16553922 [T/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs10755217 4 16588729 [A/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent var_4_16590333 4 16590333 [A/G] NM_001290,NM_001130834 LDB2,LDB2 EXON Synonymous_H177H,Synonymous_H177H rs10017860 4 16594879 [A/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs2173074 4 16598510 [A/G] NM_001290,NM_001130834,NR_049865 LDB2,LDB2,MIR548AX Silent,Silent,Silent rs6818414 4 16600664 [T/C] NM_001290,NM_001130834,NR_049865 LDB2,LDB2,MIR548AX Silent,Silent,Silent rs17490415 4 16605178 [T/C] NM_001290,NM_001130834,NR_049865 LDB2,LDB2,MIR548AX Silent,Silent,Silent rs33948812 4 16610295 [T/C] NM_001290,NM_001130834,NR_049865 LDB2,LDB2,MIR548AX Silent,Silent,Silent rs1496750 4 16624209 [T/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs6829729 4 16627989 [T/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs1972463 4 16641382 [G/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs10023986 4 16646358 [T/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs3763969 4 16648246 [T/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs9996576 4 16656682 [T/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs1027784 4 16666332 [T/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs6449262 4 16668043 [A/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs10027272 4 16677557 [T/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs16893782 4 16686361 [A/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs283029 4 16698184 [A/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs11930466 4 16705698 [T/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs157619 4 16713075 [A/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs17428815 4 16719156 [T/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs1514644 4 16723640 [A/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs16893890 4 16726650 [A/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs283019 4 16739648 [T/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs283018 4 16740168 [T/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs1546182 4 16747687 [A/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent exm2256464 4 16760830 [A/G] NM_001290,NM_001130834 LDB2,LDB2 EXON Synonymous_D62D,Synonymous_D62D exm2264084 4 16770405 [A/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent exm-rs150260 4 16777175 [T/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs157613 4 16778287 [T/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs207701 4 16786858 [A/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs123043 4 16823900 [A/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs207710 4 16834640 [A/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs158260 4 16839420 [T/C] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs12503223 4 16842716 [A/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs2108935 4 16843910 [A/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs207713 4 16851024 [A/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs13135819 4 16855730 [T/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs6839117 4 16856564 [A/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs11734663 4 16867757 [T/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs13104451 4 16871315 [T/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs16894138 4 16877760 [A/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs10014964 4 16888776 [T/G] NM_001290,NM_001130834 LDB2,LDB2 Silent,Silent rs992704 4 16906388 [A/G] rs13126845 4 16914239 [A/G] rs2108937 4 16914874 [A/G] rs4698165 4 16922182 [T/C] rs16894200 4 16940151 [T/C] rs6414774 4 16985245 [T/C] rs2314597 4 16997327 [T/C] rs6858060 4 17016263 [A/G] rs11730753 4 17035562 [T/C] rs13109476 4 17039677 [A/G] rs13353571 4 17043787 [A/G] rs16894247 4 17044466 [T/C] rs1356028 4 17047686 [A/G] rs10001817 4 17050660 [A/G] rs16894263 4 17054262 [A/G] rs828154 4 17062952 [A/G] rs828151 4 17063786 [A/C] rs16894291 4 17064024 [T/C] rs1464091 4 17070502 [A/G] rs4698167 4 17082907 [T/C] rs16894315 4 17092275 [A/G] rs13121153 4 17104059 [T/C] rs2056394 4 17105434 [T/C] rs2056393 4 17106331 [T/C] rs12640561 4 17112493 [T/C] rs10000500 4 17115201 [T/G] rs675984 4 17123821 [A/G] rs976717 4 17133741 [T/C] rs4698169 4 17135343 [T/C] rs970428 4 17136795 [A/C] rs629542 4 17137284 [A/C] rs492959 4 17145515 [T/C] rs627206 4 17149944 [A/G] rs667932 4 17165360 [A/G] exm2256480 4 17170579 [A/C] rs1522075 4 17178058 [T/G] rs608897 4 17181579 [A/G] rs7669359 4 17188778 [T/C] rs7667911 4 17188787 [A/G] rs16894648 4 17205620 [T/C] rs501015 4 17224160 [T/C] rs10025799 4 17224345 [A/G] rs509994 4 17228017 [T/C] rs584272 4 17255650 [T/C] rs613801 4 17257605 [A/G] rs673248 4 17261697 [A/G] rs531934 4 17268118 [T/G] rs649405 4 17269405 [T/G] rs12507442 4 17276304 [T/C] rs4698560 4 17291396 [T/C] rs7690593 4 17298007 [A/G] rs7692897 4 17298445 [T/C] rs16894806 4 17301096 [A/G] exm2269723 4 17309436 [T/C] rs16894824 4 17309906 [T/C] rs13107521 4 17330760 [T/C] rs6823069 4 17331894 [T/G] rs16894897 4 17335027 [A/G] rs10939712 4 17336798 [A/G] rs13130097 4 17349030 [T/C] rs16894953 4 17361114 [A/C] rs6449287 4 17373412 [T/C] rs4698581 4 17381717 [A/G] rs2122574 4 17385551 [T/C] rs1868737 4 17401363 [T/C] rs10516312 4 17402150 [A/G] rs10012313 4 17405513 [A/G] rs1528604 4 17408416 [T/G] rs10010240 4 17423823 [T/G] rs2697707 4 17427573 [A/G] rs7682455 4 17432275 [T/C] rs2697684 4 17435958 [T/C] rs7671329 4 17439346 [A/G] rs2697695 4 17449199 [T/C] rs6855040 4 17451760 [T/C] rs2518641 4 17467715 [T/C] rs5005545 4 17469695 [A/G] rs10003746 4 17469817 [T/C] rs13138275 4 17483682 [A/G] rs2597754 4 17484602 [T/G] rs2597756 4 17485081 [T/C] rs1031326 4 17488064 [T/C] NM_000320 QDPR EXON Silent rs10604 4 17488132 [A/G] NM_000320 QDPR EXON Silent exm391219 4 17492314 [C/G] NM_000320 QDPR EXON Missense_S200R exm391220 4 17492326 [G/C] NM_000320 QDPR EXON Missense_E196D variant.80368 4 17492351 [A/G] NM_000320 QDPR EXON Missense_P188L rs744731 4 17492843 [T/C] NM_000320 QDPR Silent rs12512471 4 17494643 [T/G] NM_000320 QDPR Silent exm391238 4 17503419 [T/C] NM_000320 QDPR EXON Missense_H120R exm391245 4 17506026 [A/C] NM_000320 QDPR EXON Missense_A91S exm391247 4 17510916 [A/G] NM_000320 QDPR EXON Missense_S59L exm2069878 4 17510940 [T/C] NM_000320 QDPR EXON Missense_S51N rs2597783 4 17516691 [T/C] var_4_17517042 4 17517042 [I/D] NM_001079827 CLRN2 EXON exm391265 4 17517141 [A/G] NM_001079827 CLRN2 EXON Synonymous_T84T rs7661303 4 17518920 [T/C] NM_001079827 CLRN2 Silent rs4698603 4 17519867 [A/G] NM_001079827 CLRN2 Silent variant.80373 4 17524485 [A/G] NM_001079827 CLRN2 Silent exm391272 4 17524570 [G/C] NM_001079827 CLRN2 EXON Missense_L113V exm391278 4 17528463 [A/G] NM_001079827 CLRN2 EXON Missense_A153T exm391279 4 17528479 [T/C] NM_001079827 CLRN2 EXON Missense_A158V exm391287 4 17528602 [T/A] NM_001079827 CLRN2 EXON Missense_H199L exm391293 4 17528677 [T/C] NM_001079827 CLRN2 EXON Missense_T224M rs1609899 4 17533530 [T/G] rs2518649 4 17537159 [T/G] rs6843189 4 17546381 [T/C] rs2109520 4 17550349 [T/C] rs6828925 4 17561139 [A/G] exm391304 4 17579155 [C/G] NM_015907 LAP3 EXON Missense_G23R variant.80377 4 17583910 [A/G] NM_015907 LAP3 Silent exm391320 4 17583923 [A/G] NM_015907 LAP3 EXON Missense_V96M exm391324 4 17583975 [A/C] NM_015907 LAP3 EXON Missense_N113T exm391329 4 17585107 [A/G] NM_015907 LAP3 EXON Synonymous_A127A indel.80379 4 17586616 [I/D] NM_015907 LAP3 EXON rs3733576 4 17586703 [T/C] NM_015907 LAP3 EXON Synonymous_A216A exm391339 4 17586704 [A/G] NM_015907 LAP3 EXON Missense_E217K exm391340 4 17586734 [A/G] NM_015907 LAP3 EXON Missense_S227G exm391342 4 17586746 [A/G] NM_015907 LAP3 EXON Missense_E231K exm391343 4 17586752 [A/C] NM_015907 LAP3 EXON Missense_H233N indel.80380 4 17590536 [I/D] NM_015907 LAP3 EXON exm391347 4 17590549 [A/G] NM_015907 LAP3 EXON Missense_N271S exm2265821 4 17590671 [A/G] NM_015907 LAP3 Silent variant.80381 4 17597158 [A/G] NM_015907 LAP3 Silent exm391371 4 17606274 [C/G] NM_015907 LAP3 EXON Missense_W415S var_4_17606295 4 17606295 [T/G] NM_015907 LAP3 Silent rs4698628 4 17608620 [A/G] NM_015907 LAP3 Silent exm391378 4 17609080 [C/G] NM_015907 LAP3 EXON Missense_K476N exm391392 4 17616294 [A/G] NM_025205 MED28 EXON Missense_G6E exm391393 4 17616296 [A/G] NM_025205 MED28 EXON Missense_G7S exm391399 4 17616344 [T/C] NM_025205 MED28 EXON Missense_L23F rs1006722 4 17618713 [A/G] NM_025205 MED28 Silent variant.80386 4 17621590 [A/G] NM_025205 MED28 EXON Missense_G76S exm391421 4 17625344 [A/G] NM_025205 MED28 EXON Missense_A154T exm2070034 4 17625417 [T/C] NM_025205 MED28 EXON Missense_T178M rs9884404 4 17625791 [T/C] NM_025205 MED28 EXON Silent rs16895350 4 17633227 [A/G] exm391426 4 17634213 [A/G] NM_015688 FAM184B EXON Missense_V1042A exm391429 4 17635336 [A/G] NM_015688 FAM184B EXON Missense_S1022F exm391432 4 17635388 [T/G] NM_015688 FAM184B EXON Missense_P1005T exm391433 4 17635400 [T/C] NM_015688 FAM184B EXON Missense_I1001V exm391441 4 17636666 [T/C] NM_015688 FAM184B EXON Missense_N952S exm2256496 4 17638178 [T/C] NM_015688 FAM184B EXON Synonymous_E919E exm391449 4 17640880 [C/G] NM_015688 FAM184B EXON Missense_E887Q exm391453 4 17641009 [T/C] NM_015688 FAM184B EXON Missense_E844K exm391454 4 17643730 [A/G] NM_015688 FAM184B EXON Missense_A823V rs1558377 4 17650758 [A/G] NM_015688 FAM184B Silent exm391473 4 17660021 [G/C] NM_015688 FAM184B EXON Missense_H663Q exm391476 4 17660082 [T/C] NM_015688 FAM184B EXON Missense_R643H exm391477 4 17660116 [T/G] NM_015688 FAM184B EXON Missense_Q632K exm391480 4 17661628 [A/G] NM_015688 FAM184B EXON Missense_R593C rs11722037 4 17683811 [A/G] NM_015688 FAM184B Silent exm391483 4 17690072 [T/C] NM_015688 FAM184B EXON Missense_Q524R exm391485 4 17690115 [A/G] NM_015688 FAM184B EXON Missense_R510C rs11947857 4 17691047 [T/C] NM_015688 FAM184B Silent rs4698649 4 17692782 [A/G] NM_015688 FAM184B Silent rs6825100 4 17696434 [A/G] NM_015688 FAM184B Silent rs6855046 4 17702765 [T/C] NM_015688 FAM184B Silent exm391489 4 17706664 [T/C] NM_015688 FAM184B EXON Missense_V446I exm391492 4 17707448 [C/G] NM_015688 FAM184B EXON Missense_G366A exm391493 4 17707449 [T/C] NM_015688 FAM184B EXON Missense_G366S exm391501 4 17710586 [G/C] NM_015688 FAM184B EXON Missense_D275H exm391512 4 17711210 [A/G] NM_015688 FAM184B EXON Missense_R67W rs11735608 4 17713717 [T/G] NM_015688 FAM184B Silent rs4631043 4 17727941 [A/G] NM_015688 FAM184B Silent rs6844932 4 17747023 [T/C] NM_015688 FAM184B Silent rs11730953 4 17765622 [T/C] NM_015688 FAM184B Silent rs16895707 4 17781209 [T/C] NM_015688 FAM184B Silent rs7672919 4 17797455 [T/G] exm-rs7678436 4 17797966 [A/G] exm391522 4 17805176 [T/C] NM_017741 DCAF16 EXON Missense_T197A exm391525 4 17805379 [A/G] NM_017741 DCAF16 EXON Missense_T129I variant.80390 4 17805392 [A/G] NM_017741 DCAF16 EXON Nonsense_Q125X exm391529 4 17805487 [A/G] NM_017741 DCAF16 EXON Missense_I93T exm391537 4 17805631 [T/C] NM_017741 DCAF16 EXON Missense_N45S rs2286540 4 17809538 [A/G] NM_017741 DCAF16 Silent rs2074974 4 17812615 [A/C] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Silent exm391545 4 17812750 [G/C] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_A17G exm391563 4 17814763 [T/C] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_V180A exm391564 4 17814767 [T/C] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Synonymous_N181N exm391566 4 17816572 [T/C] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_V214A exm391571 4 17816950 [A/G] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_M248I exm391573 4 17818884 [A/G] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_D259G rs2302212 4 17818885 [T/C] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Synonymous_D259D exm391574 4 17818885 [T/C] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Synonymous_D259D exm391585 4 17819695 [A/G] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_A368T indel.80393 4 17825322 [I/D] NR_073124,NM_022346 NCAPG,NCAPG EXON exm391596 4 17827108 [A/C] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_K526T exm391599 4 17829958 [A/G] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_M571V exm391602 4 17829990 [G/C] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_M581I variant.80396 4 17830016 [T/G] NR_073124,NM_022346 NCAPG,NCAPG Silent,Silent exm391615 4 17836081 [A/G] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_E682K exm391617 4 17836097 [T/C] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_A687V exm2256501 4 17838853 [T/C] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Synonymous_S727S exm391629 4 17839266 [T/A] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_F770I exm391631 4 17839273 [A/G] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_E772G exm391635 4 17841323 [A/G] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_A831T exm391638 4 17841383 [A/G] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_T851A exm2070266 4 17841404 [A/G] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_E858K newrs2286537 4 17841465 [A/G] NR_073124,NM_022346 NCAPG,NCAPG Silent,Silent exm391653 4 17842280 [G/C] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_Q940E rs16895868 4 17842342 [T/C] NR_073124,NM_022346 NCAPG,NCAPG Silent,Silent exm391657 4 17843948 [T/C] NR_073124,NM_022346 NCAPG,NCAPG EXON Silent,Missense_T957I exm391664 4 17844980 [A/G] NR_073124,NM_022346,NM_153686 NCAPG,NCAPG,LCORL EXON Silent,Missense_A994T,Silent indel.80402 4 17845007 [I/D] NR_073124,NM_022346,NM_153686 NCAPG,NCAPG,LCORL EXON exm2273387 4 17847323 [T/C] NM_153686 LCORL EXON Silent exm391671 4 17847399 [A/G] NM_153686 LCORL EXON Missense_A301V exm391673 4 17847432 [T/C] NM_153686 LCORL EXON Missense_R290H rs16895888 4 17853921 [A/G] NM_153686 LCORL Silent exm391685 4 17886146 [A/G] NM_153686,NM_001166139 LCORL,LCORL EXON Silent,Missense_Y336H exm391692 4 17910840 [T/C] NM_153686,NM_001166139 LCORL,LCORL EXON Missense_I187V,Missense_I187V rs925098 4 17919811 [A/G] NM_153686,NM_001166139 LCORL,LCORL Silent,Silent exm-rs16896068 4 17944840 [A/G] NM_153686,NM_001166139 LCORL,LCORL Silent,Silent rs1506613 4 17948939 [T/C] NM_153686,NM_001166139 LCORL,LCORL Silent,Silent rs16896109 4 17950826 [T/C] NM_153686,NM_001166139 LCORL,LCORL Silent,Silent rs7684221 4 17957354 [A/G] NM_153686,NM_001166139 LCORL,LCORL Silent,Silent exm391697 4 17963534 [T/C] NM_153686,NM_001166139 LCORL,LCORL EXON Missense_R141Q,Missense_R141Q rs6853216 4 17970655 [T/C] NM_153686,NM_001166139 LCORL,LCORL Silent,Silent exm2265675 4 17972372 [A/G] NM_153686,NM_001166139 LCORL,LCORL Silent,Silent variant.80405 4 17974467 [T/G] NM_153686,NM_001166139 LCORL,LCORL EXON Synonymous_R66R,Synonymous_R66R rs724577 4 17993410 [A/C] NM_153686,NM_001166139 LCORL,LCORL Silent,Silent exm-rs6830062 4 18017730 [T/C] NM_153686,NM_001166139 LCORL,LCORL Silent,Silent exm-rs6449353 4 18033488 [T/C] rs1459331 4 18049335 [A/G] rs7691089 4 18060833 [T/C] exm2264085 4 18061500 [A/C] rs9291662 4 18079517 [A/G] rs10516319 4 18087325 [T/G] rs7700098 4 18102216 [T/C] rs10004929 4 18111823 [T/C] rs1503872 4 18131245 [T/G] rs7687236 4 18135757 [T/C] rs11934728 4 18147151 [T/C] rs1847401 4 18169817 [T/C] rs1503886 4 18169922 [T/G] rs2320467 4 18179501 [A/C] rs4698221 4 18181274 [A/G] rs16896557 4 18181391 [T/G] exm2264045 4 18194063 [A/C] rs6449362 4 18194063 [A/C] rs6856758 4 18195120 [T/C] rs13106632 4 18203435 [T/C] rs1503884 4 18207538 [T/G] rs1503888 4 18218019 [T/C] rs17527941 4 18246425 [A/G] rs9291670 4 18277716 [A/G] rs1558588 4 18280561 [A/C] rs10488992 4 18281475 [A/G] rs4505820 4 18282476 [T/C] rs13147572 4 18293144 [A/G] rs6817595 4 18296712 [A/G] rs7687155 4 18297147 [A/G] rs16896934 4 18315750 [T/C] rs4140904 4 18315992 [A/G] rs6849596 4 18325391 [T/G] rs11733969 4 18377649 [T/C] rs1395099 4 18382212 [T/G] rs6833761 4 18396021 [A/G] rs10019574 4 18407127 [A/C] rs6843156 4 18408920 [T/C] rs10001188 4 18412555 [A/G] rs12646743 4 18437923 [A/G] rs13140382 4 18442072 [A/G] rs13136984 4 18453713 [A/G] rs10034918 4 18461495 [T/C] rs11728685 4 18465884 [A/G] rs1354676 4 18473310 [T/C] rs10516323 4 18481635 [A/G] rs16897089 4 18482287 [A/G] rs11936950 4 18502355 [T/C] rs1477886 4 18515483 [T/C] rs2616472 4 18522138 [A/C] rs12507985 4 18569229 [T/G] rs922388 4 18581701 [A/C] rs10021749 4 18605502 [A/G] rs16897260 4 18617189 [A/C] rs2320979 4 18638021 [T/C] exm-rs6814594 4 18658198 [T/C] rs4398521 4 18668957 [T/C] rs938841 4 18694002 [A/C] rs13118998 4 18695770 [A/G] rs16897436 4 18704754 [A/G] rs1878644 4 18722405 [A/G] rs2321533 4 18725802 [A/G] exm2269724 4 18736797 [T/C] rs11732784 4 18748499 [T/G] rs4697637 4 18754324 [T/C] rs1464189 4 18756789 [A/G] rs1607309 4 18776097 [T/C] rs10024472 4 18779280 [T/C] rs10027565 4 18786401 [A/G] rs2321454 4 18787232 [A/G] rs1568234 4 18789372 [A/G] rs9291679 4 18794118 [A/G] rs1356472 4 18801755 [A/C] rs10516330 4 18803401 [T/C] rs12640123 4 18813683 [A/G] rs6449425 4 18835874 [T/C] rs16897644 4 18837642 [A/G] rs4147042 4 18840158 [A/G] rs1518002 4 18843657 [A/G] rs938840 4 18851987 [T/G] rs16897709 4 18852745 [A/G] rs6845544 4 18863913 [A/G] rs7676193 4 18889088 [A/G] rs4444827 4 18894787 [T/C] rs6449435 4 18908518 [T/C] rs2215762 4 18910602 [A/G] rs207291 4 18921383 [T/G] rs10489055 4 18933156 [A/G] rs1452559 4 18958075 [T/C] rs2537942 4 18960220 [A/G] rs1452565 4 18961510 [A/G] rs2601593 4 18983905 [A/C] rs2537914 4 18985469 [T/C] exm2269905 4 19005988 [T/C] rs207363 4 19005988 [T/C] rs16897986 4 19026072 [A/G] rs12644264 4 19040579 [A/G] rs16898037 4 19056475 [A/G] rs207332 4 19058245 [T/C] rs207305 4 19092157 [T/C] rs12649695 4 19111493 [T/C] rs9992304 4 19133988 [T/C] exm2265676 4 19147496 [A/G] rs7671224 4 19150192 [A/C] rs1351073 4 19160427 [T/C] rs13139953 4 19167507 [A/G] rs12374356 4 19174530 [T/C] rs11944202 4 19186822 [A/C] rs1478051 4 19189389 [T/G] rs1478049 4 19193583 [A/G] rs7657606 4 19194131 [T/C] rs7668345 4 19259307 [A/G] rs312353 4 19262251 [T/C] rs1478046 4 19265758 [T/C] rs312368 4 19275229 [A/G] rs312394 4 19275730 [A/C] kgp1721765 4 19275965 [A/G] rs1010743 4 19333182 [A/C] rs1490874 4 19335464 [T/C] rs1844731 4 19357007 [T/C] rs1552660 4 19381302 [A/C] rs13123977 4 19406545 [T/C] rs13102773 4 19407186 [T/C] rs10023012 4 19410177 [A/G] rs7696764 4 19414766 [T/C] rs10010555 4 19424787 [T/C] rs4074143 4 19428544 [A/G] rs12233736 4 19452605 [T/C] rs7437307 4 19484765 [T/G] rs10011402 4 19488871 [T/G] rs4525972 4 19492256 [A/G] rs4586931 4 19506054 [T/C] rs6842946 4 19508543 [T/C] rs6837423 4 19511507 [A/G] rs7700114 4 19525991 [T/C] rs6850501 4 19570941 [A/G] rs13120547 4 19571122 [T/C] rs10027409 4 19574923 [T/C] rs10000908 4 19576975 [T/C] rs17508080 4 19584331 [A/G] rs10033656 4 19607089 [T/C] rs3846382 4 19609939 [T/C] rs10025939 4 19616649 [A/C] rs3846388 4 19633338 [A/G] rs11939712 4 19643571 [A/G] exm2265677 4 19643571 [A/G] rs17570168 4 19684918 [T/C] rs3842911 4 19696428 [T/C] rs9291405 4 19717625 [A/C] rs10029490 4 19740879 [A/C] rs3935613 4 19751585 [T/G] rs13145150 4 19798055 [T/C] rs10938771 4 19800481 [T/C] rs4380519 4 19810878 [A/G] rs7658418 4 19821565 [T/C] rs6833662 4 19827258 [A/G] rs4261984 4 19832995 [T/C] rs6833091 4 19834012 [T/G] rs6852734 4 19842636 [T/C] rs12649350 4 19857997 [A/G] rs7693487 4 19872318 [A/G] rs4404540 4 19875509 [T/C] rs6858624 4 19896225 [A/G] rs11735138 4 19906275 [T/C] exm2265678 4 19915956 [A/G] rs6816464 4 19928602 [T/C] rs4464568 4 19933069 [T/C] rs12650682 4 19942443 [A/G] rs13135681 4 19971235 [A/G] rs10516343 4 19974862 [A/C] rs4128232 4 19980071 [T/C] rs4626202 4 19983104 [T/C] rs2247321 4 19998503 [T/C] rs2629715 4 20020240 [A/C] rs13107783 4 20025539 [A/C] rs2708987 4 20032963 [T/C] exm2269906 4 20039702 [T/C] rs1032133 4 20053908 [T/C] rs6845174 4 20054356 [A/G] rs2874743 4 20064263 [T/C] rs961521 4 20078019 [T/C] rs10938787 4 20088468 [A/G] rs4642249 4 20089011 [A/G] rs2322346 4 20097540 [A/G] rs4697140 4 20100285 [A/C] rs6852889 4 20108488 [A/G] rs6855958 4 20111944 [T/C] rs13123715 4 20112399 [T/C] rs10516346 4 20118073 [A/C] rs16869213 4 20126912 [T/C] rs12510334 4 20141256 [T/G] rs7659298 4 20171488 [T/C] rs10027583 4 20176829 [T/C] rs587668 4 20190972 [T/C] rs685064 4 20206215 [T/C] rs556208 4 20214277 [T/C] rs509217 4 20230757 [T/C] rs614158 4 20251117 [T/C] rs7655084 4 20255306 [T/G] NM_004787 SLIT2 EXON Silent exm391721 4 20259514 [A/G] NM_004787 SLIT2 EXON Missense_S92N rs1323067 4 20262768 [T/C] NM_004787 SLIT2 Silent rs1323068 4 20263058 [A/G] NM_004787 SLIT2 Silent rs715213 4 20267915 [T/C] NM_004787 SLIT2 Silent exm391724 4 20270485 [T/A] NM_004787 SLIT2 EXON Missense_T126S rs17601458 4 20283069 [T/C] NM_004787 SLIT2 Silent rs12511950 4 20303108 [T/C] NM_004787 SLIT2 Silent rs13435197 4 20310276 [A/G] NM_004787 SLIT2 Silent rs4406013 4 20362716 [T/C] NM_004787 SLIT2 Silent rs5016268 4 20370143 [A/G] NM_004787 SLIT2 Silent rs4403045 4 20377167 [T/C] NM_004787 SLIT2 Silent rs9884539 4 20380257 [T/C] NM_004787 SLIT2 Silent rs11723573 4 20440256 [T/C] NM_004787 SLIT2 Silent rs1473080 4 20444781 [T/C] NM_004787 SLIT2 Silent rs11942897 4 20459118 [T/C] NM_004787 SLIT2 Silent exm2256544 4 20467767 [T/C] NM_004787 SLIT2 Silent rs11936122 4 20473278 [T/G] NM_004787 SLIT2 Silent rs625614 4 20476800 [A/G] NM_004787 SLIT2 Silent rs16869643 4 20479620 [A/G] NM_004787 SLIT2 Silent rs10019416 4 20487711 [A/C] NM_004787 SLIT2 Silent rs484614 4 20488464 [A/C] NM_004787 SLIT2 Silent rs3756147 4 20489479 [T/C] NM_004787 SLIT2 Silent exm391742 4 20490488 [T/C] NM_004787 SLIT2 EXON Missense_L220F exm391747 4 20490564 [A/G] NM_004787 SLIT2 EXON Missense_H245R exm391750 4 20493434 [A/G] NM_004787 SLIT2 EXON Missense_A276T exm-rs666088 4 20495135 [T/C] NM_004787 SLIT2 Silent rs522501 4 20497277 [A/G] NM_004787 SLIT2 Silent rs6825654 4 20518603 [A/C] NM_004787 SLIT2 Silent rs16869706 4 20524715 [A/G] NM_004787 SLIT2 Silent exm391766 4 20525415 [A/G] NM_004787 SLIT2 EXON Missense_R388Q exm391767 4 20525442 [A/G] NM_004787 SLIT2 EXON Missense_N397S exm391774 4 20525687 [T/C] NM_004787 SLIT2 EXON Missense_A442V exm391778 4 20526789 [A/G] NM_004787 SLIT2 EXON Missense_I486V rs7690660 4 20527864 [T/G] NM_004787 SLIT2 Silent rs9992559 4 20530374 [T/C] NM_004787 SLIT2 Silent rs2168801 4 20530981 [A/G] NM_004787 SLIT2 Silent exm391795 4 20535203 [A/G] NM_004787 SLIT2 EXON Missense_S566N rs3775820 4 20540540 [A/G] NM_004787 SLIT2 Silent exm391810 4 20543241 [T/C] NM_004787 SLIT2 EXON Synonymous_D714D exm391820 4 20547709 [T/C] NM_004787 SLIT2 EXON Missense_H778Y variant.80408 4 20547722 [T/C] NM_004787 SLIT2 EXON Missense_I782T exm391827 4 20550697 [A/G] NM_004787 SLIT2 EXON Missense_R812H rs4697169 4 20552853 [A/C] NM_004787 SLIT2 Silent exm391836 4 20555529 [T/G] NM_004787 SLIT2 EXON Missense_G888V rs10516357 4 20563108 [A/G] NM_004787 SLIT2 Silent variant.80409 4 20569009 [A/G] NM_004787 SLIT2 EXON Synonymous_K950K variant.80410 4 20570632 [A/G] NM_004787 SLIT2 Silent rs7666974 4 20579372 [T/G] NM_004787 SLIT2 Silent rs2168802 4 20585883 [T/C] NM_004787 SLIT2 Silent exm2256545 4 20591308 [T/C] NM_004787 SLIT2 EXON Synonymous_L1044L exm391860 4 20591308 [T/C] NM_004787 SLIT2 EXON Synonymous_L1044L exm2071880 4 20597357 [G/C] NM_004787 SLIT2 EXON Missense_D1074H exm391871 4 20598044 [T/G] NM_004787 SLIT2 EXON Missense_L1109F exm391873 4 20598079 [A/G] NM_004787 SLIT2 EXON Missense_R1121H rs10010466 4 20601311 [T/G] NM_004787 SLIT2 Silent rs2322559 4 20605594 [A/G] NM_004787 SLIT2 Silent rs9993853 4 20612056 [A/G] NM_004787 SLIT2 Silent exm391895 4 20618734 [A/G] NM_004787 SLIT2 EXON Missense_S1350N exm391905 4 20619178 [T/C] NM_004787 SLIT2 EXON Missense_A1418V exm391906 4 20619192 [A/C] NM_004787 SLIT2 EXON Missense_H1423N exm391912 4 20619258 [G/C] NM_004787 SLIT2 EXON Missense_D1445H exm391915 4 20620442 [T/G] NM_004787 SLIT2 EXON Missense_G1467V exm391917 4 20620478 [A/G] NM_004787 SLIT2 EXON Missense_R1479Q exm391923 4 20620616 [T/C] NM_004787 SLIT2 EXON Missense_T1525M exm-rs1379659 4 20620683 [A/G] NM_004787 SLIT2 EXON Silent rs11930632 4 20623976 [T/C] rs16869812 4 20627764 [T/C] rs1465522 4 20637946 [A/G] rs10024417 4 20660406 [T/C] rs10755201 4 20674761 [T/C] rs2195033 4 20685983 [T/C] rs11736062 4 20692096 [T/C] indel.80413 4 20706137 [I/D] NM_145048,NM_001258345,NM_001130727,NM_001258346,NR_047661 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL EXON exm2240837 4 20706388 [A/G] NM_145048,NM_001258345,NM_001130727,NM_001258346,NR_047661 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL EXON Missense_K53R,Missense_K53R,Missense_K53R,Missense_K53R,Silent indel.80414 4 20706428 [I/D] NM_145048,NM_001258345,NM_001130727,NM_001258346,NR_047661 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL EXON variant.80415 4 20706437 [A/G] NM_145048,NM_001258345,NM_001130727,NM_001258346,NR_047661 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL EXON Synonymous_P69P,Synonymous_P69P,Synonymous_P69P,Synonymous_P69P,Silent exm391945 4 20709441 [T/C] NM_145048,NM_001258345,NM_001130727,NM_001258346,NR_047661 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL EXON Nonsense_R75X,Nonsense_R75X,Silent,Silent,Silent exm391950 4 20711348 [A/T] NM_145048,NM_001258345,NM_001130727,NM_001258346,NR_047661 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL EXON Nonsense_C106X,Nonsense_C106X,Silent,Silent,Silent exm391951 4 20711349 [T/C] NM_145048,NM_001258345,NM_001130727,NM_001258346,NR_047661 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL EXON Missense_P107S,Missense_P107S,Silent,Silent,Silent exm391960 4 20714522 [A/C] NM_145048,NM_001258345,NM_001130727,NM_001258346,NR_047661 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL EXON Missense_I160L,Missense_I160L,Silent,Missense_I107L,Silent exm391970 4 20715151 [C/G] NM_145048,NM_001258345,NM_001130727,NM_001258346,NR_047661 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL EXON Missense_L200V,Missense_L200V,Missense_L102V,Missense_L147V,Silent variant.80418 4 20715162 [T/C] NM_145048,NM_001258345,NM_001130727,NM_001258346,NR_047661 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL EXON Synonymous_S203S,Synonymous_S203S,Synonymous_S105S,Synonymous_S150S,Silent variant.80419 4 20715163 [A/G] NM_145048,NM_001258345,NM_001130727,NM_001258346,NR_047661 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL Silent,Silent,Silent,Silent,Silent rs11721944 4 20717173 [A/G] NM_145048,NM_001258345,NM_001130727,NM_001258346,NR_047661 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL Silent,Silent,Silent,Silent,Silent indel.80420 4 20728906 [I/D] NM_145048,NM_001258345,NM_001130727,NM_001258346,NR_047661 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL newrs140666081 4 20728910 [T/G] NM_145048,NM_001258345,NM_001130727,NM_001258346,NR_047661 PACRGL,PACRGL,PACRGL,PACRGL,PACRGL EXON Synonymous_G204G,Synonymous_G231G,Synonymous_G106G,Nonsense_E199X,Silent rs2288308 4 20731047 [T/C] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 EXON Silent,Silent,Silent,Silent,Silent,Silent rs12640448 4 20731332 [T/C] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 EXON Silent,Silent,Silent,Silent,Silent,Silent exm391978 4 20731736 [T/C] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 EXON Missense_R187H,Missense_R220H,Missense_R179H,Missense_R221H,Missense_R179H,Missense_R216H exm391979 4 20731737 [A/G] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 EXON Missense_R187C,Missense_R220C,Missense_R179C,Missense_R221C,Missense_R179C,Missense_R216C rs7688805 4 20732334 [A/C] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent rs10938803 4 20749299 [A/G] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent rs7689421 4 20755240 [A/G] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent rs7686877 4 20767337 [A/C] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent rs16869949 4 20770444 [A/C] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent rs9998730 4 20798129 [T/G] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent rs16869987 4 20805765 [A/C] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent exm2269726 4 20807674 [T/C] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent rs16870076 4 20814133 [T/G] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent rs9998327 4 20814216 [A/G] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent rs10013103 4 20827366 [A/C] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent rs12649113 4 20831331 [A/C] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent rs17555380 4 20832402 [T/C] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent rs10025134 4 20836574 [A/G] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent rs2130920 4 20836911 [T/C] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent rs1352797 4 20841386 [A/G] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent rs10001877 4 20843206 [T/C] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent,Silent newrs3765121 4 20852166 [A/G] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 EXON Synonymous_N42N,Synonymous_N75N,Synonymous_N34N,Synonymous_N76N,Synonymous_N34N,Synonymous_N71N exm392002 4 20852166 [A/G] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 EXON Synonymous_N42N,Synonymous_N75N,Synonymous_N34N,Synonymous_N76N,Synonymous_N34N,Synonymous_N71N rs3765122 4 20852244 [A/G] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 EXON Synonymous_P16P,Synonymous_P49P,Synonymous_P8P,Synonymous_P50P,Synonymous_P8P,Synonymous_P45P exm392004 4 20852258 [T/C] NM_147181,NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 EXON Missense_V12I,Missense_V45I,Missense_V4I,Missense_V46I,Missense_V4I,Missense_V41I rs16870149 4 20857804 [T/G] NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent rs9291414 4 20861179 [T/G] NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent rs17556698 4 20861514 [T/C] NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent rs17556817 4 20864229 [T/C] NM_147183,NM_147182,NM_025221,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent,Silent rs1491370 4 20908415 [T/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs6843757 4 20914984 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs1434957 4 20926819 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs16870225 4 20939335 [T/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs4697198 4 20939779 [T/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs1434954 4 20946907 [A/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs6830607 4 20948059 [T/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs1434950 4 20949917 [T/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs6811024 4 20952556 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs6821566 4 20959057 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs6841954 4 20985138 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs12640604 4 21000867 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs6825511 4 21002294 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs4348088 4 21019900 [T/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs6853609 4 21033853 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs10033946 4 21052369 [A/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs12510687 4 21079749 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs6817687 4 21085330 [T/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs6448011 4 21089763 [A/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs720853 4 21096145 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs7696887 4 21112046 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs16870421 4 21116890 [T/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs7687191 4 21125935 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs6448023 4 21138108 [T/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs10011670 4 21140045 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs17506318 4 21155716 [T/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs876478 4 21156962 [T/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs7667000 4 21159965 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs1347240 4 21160249 [A/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs2113966 4 21179758 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs10013055 4 21188231 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs7672506 4 21220921 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs10516376 4 21222671 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs11733487 4 21236883 [T/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs6833463 4 21244175 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs6823638 4 21247995 [A/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent exm2269907 4 21254331 [T/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs1425333 4 21255650 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs4697213 4 21256272 [T/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs1863289 4 21265036 [T/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs16870654 4 21267346 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs2322883 4 21275159 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs993611 4 21286777 [A/G] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs1425339 4 21300290 [T/C] NM_147183,NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent,Silent rs11726974 4 21307467 [T/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent exm2269727 4 21324191 [T/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs16870831 4 21334285 [A/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs1485513 4 21341637 [T/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs7661530 4 21351260 [T/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs12501359 4 21361701 [A/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs12641447 4 21382332 [T/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs1390262 4 21387660 [T/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs6852605 4 21388219 [T/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs1908552 4 21389678 [A/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs1495509 4 21393616 [T/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs10012593 4 21401617 [A/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs6448050 4 21407759 [T/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs4697220 4 21419053 [A/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs2322963 4 21424434 [T/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs10022151 4 21425057 [A/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs11730849 4 21438786 [T/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs1460485 4 21455877 [A/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs6855589 4 21471568 [T/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs17523841 4 21472214 [A/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs1460491 4 21472843 [A/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent exm-rs358592 4 21476990 [T/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs358592 4 21476990 [T/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs358591 4 21477096 [A/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs4314271 4 21489423 [A/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs6830109 4 21492445 [T/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs10025003 4 21493467 [A/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs1013568 4 21494694 [T/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs358558 4 21506851 [A/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs16871289 4 21511383 [T/C] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs6810518 4 21514249 [A/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs2279674 4 21520250 [T/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs1460494 4 21526226 [A/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs11734403 4 21539014 [A/G] NM_147182,NM_001035004,NM_001035003 KCNIP4,KCNIP4,KCNIP4 Silent,Silent,Silent rs1817324 4 21546537 [T/C] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs13115047 4 21549276 [T/C] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs2199286 4 21558828 [T/C] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs358839 4 21565222 [T/C] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs16871434 4 21565393 [A/G] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs1460475 4 21565822 [A/G] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs11722935 4 21590684 [A/G] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs12504857 4 21601449 [A/C] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs1827593 4 21602926 [A/G] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs3913663 4 21607597 [T/G] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs7676653 4 21614184 [T/C] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs9291428 4 21622448 [T/C] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent exm2265679 4 21627809 [A/G] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs2323070 4 21627809 [A/G] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs1039549 4 21629865 [T/G] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs6448063 4 21632162 [T/C] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs1503979 4 21634922 [T/C] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs10011134 4 21646932 [T/C] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent exm-rs7669724 4 21649840 [T/C] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs1503990 4 21651620 [T/C] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs6817879 4 21651850 [T/G] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs1026523 4 21655717 [A/G] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs1824371 4 21658543 [A/C] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs7671181 4 21671519 [T/C] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs1354390 4 21689430 [A/G] NM_147182,NM_001035003 KCNIP4,KCNIP4 Silent,Silent rs4235291 4 21707905 [T/C] NM_147182 KCNIP4 Silent rs6850480 4 21715034 [T/C] NM_147182 KCNIP4 Silent rs9884923 4 21719296 [T/C] NM_147182 KCNIP4 Silent rs12509958 4 21734047 [A/C] NM_147182 KCNIP4 Silent rs7697475 4 21735319 [A/G] NM_147182 KCNIP4 Silent rs717531 4 21764761 [T/C] NM_147182 KCNIP4 Silent rs16871885 4 21769360 [T/C] NM_147182 KCNIP4 Silent rs12646630 4 21770028 [T/C] NM_147182 KCNIP4 Silent rs1471220 4 21778153 [T/C] NM_147182 KCNIP4 Silent rs7696044 4 21794660 [A/C] NM_147182 KCNIP4 Silent rs6827460 4 21798225 [T/C] NM_147182 KCNIP4 Silent rs13122849 4 21816328 [A/G] NM_147182 KCNIP4 Silent rs10034770 4 21820620 [A/C] NM_147182 KCNIP4 Silent rs4377576 4 21825726 [T/C] NM_147182 KCNIP4 Silent rs2137650 4 21833931 [A/G] NM_147182 KCNIP4 Silent rs1398832 4 21847547 [T/C] NM_147182,NR_002813 KCNIP4,KCNIP4-IT1 EXON Silent,Silent exm2265822 4 21864975 [A/G] NM_147182 KCNIP4 Silent rs6839725 4 21870314 [A/G] NM_147182 KCNIP4 Silent rs12504827 4 21871986 [A/G] NM_147182 KCNIP4 Silent rs10000092 4 21895517 [T/C] NM_147182 KCNIP4 Silent rs4277766 4 21910553 [T/C] NM_147182 KCNIP4 Silent rs9995524 4 21913523 [T/G] NM_147182 KCNIP4 Silent rs1913330 4 21929301 [T/C] NM_147182 KCNIP4 Silent rs4697250 4 21940697 [T/G] NM_147182 KCNIP4 Silent rs4696996 4 21962153 [T/C] rs9291431 4 21965464 [T/C] rs4697253 4 21972367 [T/C] rs2007195 4 21973217 [T/C] rs6827204 4 21981053 [A/G] rs6448104 4 21986877 [T/C] rs11933737 4 22034546 [A/G] rs13106072 4 22044372 [A/G] rs7695992 4 22048637 [A/G] rs10433802 4 22057269 [T/C] rs11931022 4 22079733 [A/G] rs10017103 4 22080442 [T/C] rs6831346 4 22081816 [A/G] rs13123835 4 22087470 [A/G] rs6820902 4 22098163 [T/C] rs6837880 4 22109508 [T/C] rs17528275 4 22124060 [T/C] rs16872414 4 22135324 [A/G] rs10021835 4 22142731 [T/G] rs10033940 4 22161298 [T/G] rs11933151 4 22164317 [A/G] exm2269728 4 22165174 [T/C] rs9291436 4 22165174 [T/C] rs7688470 4 22171998 [A/G] rs10026993 4 22185504 [T/C] rs17588445 4 22189941 [A/G] rs6448132 4 22192762 [T/C] rs4697270 4 22202451 [A/G] rs11730240 4 22222487 [A/G] rs4697273 4 22235796 [A/G] rs4697275 4 22237340 [T/G] rs11944669 4 22246755 [A/C] rs4285070 4 22266680 [T/C] rs1500453 4 22293243 [T/C] rs7659139 4 22297899 [A/G] rs1500463 4 22300272 [A/G] rs1392592 4 22302352 [A/G] rs6448143 4 22303196 [T/C] rs10938886 4 22304073 [T/C] rs4697007 4 22322240 [T/C] rs7674804 4 22344500 [T/C] rs16872565 4 22346400 [T/G] rs1983021 4 22349886 [T/C] rs955785 4 22370669 [T/C] exm392027 4 22389387 [A/C] NM_145290 GPR125 EXON Missense_G1303C exm392032 4 22389464 [T/C] NM_145290 GPR125 EXON Missense_Q1277R exm392033 4 22389468 [T/G] NM_145290 GPR125 EXON Missense_N1276H exm2256549 4 22389484 [A/T] NM_145290 GPR125 EXON Synonymous_A1270A exm392035 4 22389484 [A/T] NM_145290 GPR125 EXON Synonymous_A1270A exm2072026 4 22389552 [T/C] NM_145290 GPR125 EXON Missense_K1248E exm392040 4 22389582 [T/C] NM_145290 GPR125 EXON Missense_D1238N exm392045 4 22389632 [T/C] NM_145290 GPR125 EXON Missense_R1221Q exm392047 4 22389653 [T/G] NM_145290 GPR125 EXON Missense_N1214T exm392052 4 22389707 [G/C] NM_145290 GPR125 EXON Missense_T1196R exm392062 4 22389867 [A/T] NM_145290 GPR125 EXON Missense_T1143S exm392064 4 22390013 [A/G] NM_145290 GPR125 EXON Missense_A1094V exm392069 4 22390043 [T/C] NM_145290 GPR125 EXON Missense_G1084E exm392070 4 22390049 [A/G] NM_145290 GPR125 EXON Missense_T1082M exm392071 4 22390068 [A/G] NM_145290 GPR125 EXON Missense_P1076S exm392074 4 22390167 [T/C] NM_145290 GPR125 EXON Missense_V1043M rs9002 4 22390167 [T/C] NM_145290 GPR125 EXON Missense_V1043M exm392084 4 22390383 [T/C] NM_145290 GPR125 EXON Missense_N971D exm392086 4 22390400 [T/C] NM_145290 GPR125 EXON Missense_N965S indel.80424 4 22390779 [D/I] NM_145290 GPR125 EXON variant.80425 4 22390807 [T/C] NM_145290 GPR125 Silent exm392095 4 22394175 [T/C] NM_145290 GPR125 EXON Missense_M874V exm392097 4 22394222 [A/G] NM_145290 GPR125 EXON Missense_A858V exm392099 4 22394239 [T/G] NM_145290 GPR125 EXON Missense_K852N rs13148867 4 22397564 [A/C] NM_145290 GPR125 Silent rs4697297 4 22401728 [T/C] NM_145290 GPR125 Silent exm392107 4 22403143 [A/G] NM_145290 GPR125 EXON Missense_L798F rs2306135 4 22403722 [T/C] NM_145290 GPR125 Silent exm392109 4 22404326 [T/C] NM_145290 GPR125 EXON Missense_V777I exm392113 4 22404391 [A/G] NM_145290 GPR125 EXON Missense_A755V rs10002842 4 22414023 [A/C] NM_145290 GPR125 Silent exm392120 4 22414873 [T/C] NM_145290 GPR125 EXON Missense_I722V exm2072066 4 22422603 [A/G] NM_145290 GPR125 EXON Missense_S572L exm392142 4 22422712 [A/G] NM_145290 GPR125 EXON Missense_Y536H exm392143 4 22425837 [T/C] NM_145290 GPR125 EXON Missense_G528S exm392144 4 22425839 [T/G] NM_145290 GPR125 EXON Missense_A527D exm392146 4 22425846 [A/G] NM_145290 GPR125 EXON Missense_R525W exm392148 4 22425893 [T/A] NM_145290 GPR125 EXON Missense_K509I rs10805234 4 22428329 [T/C] NM_145290 GPR125 Silent rs13135121 4 22430507 [A/G] NM_145290 GPR125 Silent exm392156 4 22437065 [A/C] NM_145290 GPR125 EXON Missense_V438L exm392164 4 22438218 [A/G] NM_145290 GPR125 EXON Missense_R378W exm392168 4 22438254 [T/C] NM_145290 GPR125 EXON Missense_T366A exm392174 4 22439975 [T/C] NM_145290 GPR125 EXON Missense_R330H exm392193 4 22446679 [A/G] NM_145290 GPR125 EXON Missense_T208M exm2072093 4 22446703 [T/C] NM_145290 GPR125 EXON Missense_R200H exm392196 4 22449130 [T/G] NM_145290 GPR125 EXON Missense_L160I rs28726245 4 22450122 [A/G] NM_145290 GPR125 Silent rs1564138 4 22451781 [T/C] NM_145290 GPR125 Silent exm392197 4 22456492 [T/C] NM_145290 GPR125 EXON Missense_R157Q exm392199 4 22456501 [T/C] NM_145290 GPR125 EXON Missense_N154S rs7697959 4 22470931 [T/C] NM_145290 GPR125 Silent exm392208 4 22475444 [A/G] NM_145290 GPR125 EXON Missense_S94P rs13150142 4 22479781 [A/G] NM_145290 GPR125 Silent exm2265680 4 22491705 [A/G] NM_145290 GPR125 Silent rs1841823 4 22493757 [T/C] NM_145290 GPR125 Silent rs6448161 4 22501043 [T/G] NM_145290 GPR125 Silent rs7697048 4 22509714 [T/C] NM_145290 GPR125 Silent rs1381915 4 22519313 [T/C] rs2086010 4 22521890 [A/G] rs6838206 4 22530016 [T/C] rs1120044 4 22531986 [T/C] rs10017558 4 22536001 [T/C] rs13143909 4 22537258 [A/G] rs12163757 4 22537387 [A/C] rs10027019 4 22538956 [T/G] rs2323624 4 22555317 [A/G] rs11722502 4 22556784 [T/C] rs13152115 4 22585721 [A/G] rs13120856 4 22591935 [T/C] rs6858626 4 22592929 [A/G] rs1824864 4 22605059 [A/C] rs2618940 4 22614378 [T/C] rs2439468 4 22631389 [T/C] rs2618947 4 22646725 [T/C] rs2618954 4 22659580 [T/G] rs12507337 4 22661136 [T/C] rs2581966 4 22671199 [A/G] rs12501294 4 22683706 [A/G] rs6856346 4 22685868 [A/C] rs12506103 4 22689850 [T/C] rs7682224 4 22693754 [T/C] rs10004988 4 22696560 [T/C] NM_001128432,NM_020973 GBA3,GBA3 Silent,Silent rs16873068 4 22715030 [T/C] NM_001128432,NM_020973 GBA3,GBA3 Silent,Silent exm392257 4 22737768 [T/C] NM_001128432,NM_020973 GBA3,GBA3 EXON Missense_R75C,Missense_R75C exm392258 4 22737807 [A/G] NM_001128432,NM_020973 GBA3,GBA3 EXON Missense_T88A,Missense_T88A indel.80431 4 22737813 [D/I] NM_001128432,NM_020973 GBA3,GBA3 EXON exm392263 4 22748948 [A/G] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_D106N exm392264 4 22748966 [T/G] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_V112F exm392266 4 22749008 [A/G] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_T126A exm392268 4 22749038 [A/G] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_E136K exm392273 4 22749148 [A/G] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_M172I exm392277 4 22749176 [A/G] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_G182S indel.80434 4 22749251 [I/D] NM_001128432,NM_020973 GBA3,GBA3 EXON exm392282 4 22749269 [T/C] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Nonsense_R213X exm392283 4 22749270 [G/C] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_R213P variant.80438 4 22749509 [T/G] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Nonsense_E293X exm392296 4 22749692 [T/C] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_C354R exm392299 4 22750521 [T/C] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_A382V exm392300 4 22750541 [T/C] NM_001128432,NM_020973 GBA3,GBA3 EXON Silent,Missense_R389C rs17540321 4 22757756 [A/G] NM_001128432,NM_020973 GBA3,GBA3 Silent,Silent rs4103518 4 22774617 [T/C] NM_001128432,NM_020973 GBA3,GBA3 Silent,Silent rs6854336 4 22793164 [A/G] NM_001128432,NM_020973 GBA3,GBA3 Silent,Silent rs183084 4 22793528 [A/G] NM_001128432,NM_020973 GBA3,GBA3 Silent,Silent rs358254 4 22794601 [A/G] NM_001128432,NM_020973 GBA3,GBA3 Silent,Silent rs358238 4 22812879 [A/G] NM_001128432,NM_020973 GBA3,GBA3 Silent,Silent exm392308 4 22820435 [T/G] NM_001128432,NM_020973 GBA3,GBA3 EXON Missense_F126L,Missense_F433L exm392314 4 22820504 [A/T] NM_001128432,NM_020973 GBA3,GBA3 EXON Missense_X149Y,Missense_X456Y exm2269908 4 22844392 [T/C] rs11946006 4 22850202 [A/G] rs358224 4 22860785 [A/G] rs6840245 4 22878904 [A/G] rs718137 4 22901347 [A/C] rs16873221 4 22940211 [T/C] rs13113121 4 22962472 [T/C] rs13132256 4 22979347 [A/G] rs10938926 4 23002014 [A/G] rs4697359 4 23009296 [A/G] rs4391017 4 23015784 [T/C] rs4697365 4 23032220 [A/G] exm-rs2102219 4 23036522 [T/C] rs11944694 4 23085015 [A/G] exm2269729 4 23123307 [T/C] rs4607200 4 23129245 [T/C] rs11733138 4 23160661 [A/G] rs7676830 4 23169854 [T/C] rs10805240 4 23175107 [T/C] rs7697052 4 23205306 [A/G] NR_039674 MIR548AJ2 Silent rs13127424 4 23209159 [A/G] NR_039674 MIR548AJ2 Silent rs10517006 4 23230869 [T/C] NR_039674 MIR548AJ2 Silent rs20414 4 23235331 [A/C] NR_039674 MIR548AJ2 Silent rs10938932 4 23266728 [T/C] NR_039674 MIR548AJ2 Silent rs16873417 4 23267131 [T/C] NR_039674 MIR548AJ2 Silent rs10020391 4 23272693 [T/C] NR_039674 MIR548AJ2 Silent rs7658635 4 23288742 [T/C] NR_039674 MIR548AJ2 Silent rs10938939 4 23296159 [T/C] NR_039674 MIR548AJ2 Silent rs12507992 4 23307693 [T/C] NR_039674 MIR548AJ2 Silent rs2175069 4 23317124 [A/G] NR_039674 MIR548AJ2 Silent rs16873495 4 23320940 [A/C] NR_039674 MIR548AJ2 Silent rs1912031 4 23329039 [A/G] NR_039674 MIR548AJ2 Silent rs2940777 4 23338785 [T/C] NR_039674 MIR548AJ2 Silent rs11728319 4 23340149 [A/G] NR_039674 MIR548AJ2 Silent rs6448201 4 23340766 [A/G] NR_039674 MIR548AJ2 Silent rs1396669 4 23345454 [T/G] NR_039674 MIR548AJ2 Silent rs10005577 4 23351305 [A/G] NR_039674 MIR548AJ2 Silent rs7682902 4 23354371 [T/C] NR_039674 MIR548AJ2 Silent rs169998 4 23386583 [A/G] NR_039674 MIR548AJ2 Silent rs215478 4 23387315 [T/C] NR_039674 MIR548AJ2 Silent rs215475 4 23388399 [A/G] NR_039674 MIR548AJ2 Silent rs976892 4 23390149 [A/G] NR_039674 MIR548AJ2 Silent rs2159518 4 23416412 [A/G] NR_039674 MIR548AJ2 Silent rs215410 4 23424060 [T/G] NR_039674 MIR548AJ2 Silent rs1605813 4 23430768 [A/G] NR_039674 MIR548AJ2 Silent rs215446 4 23438665 [T/C] NR_039674 MIR548AJ2 Silent rs6817487 4 23451237 [T/C] NR_039674 MIR548AJ2 Silent rs215428 4 23451900 [A/G] NR_039674 MIR548AJ2 Silent rs13129559 4 23462730 [T/C] NR_039674 MIR548AJ2 Silent rs6829223 4 23474539 [A/G] rs12498626 4 23477482 [A/G] rs756516 4 23487104 [A/G] rs12505641 4 23488892 [A/G] exm-rs12505641 4 23488892 [A/G] rs4317189 4 23495538 [T/C] rs16873798 4 23523429 [A/C] rs2323996 4 23546394 [T/C] rs10021542 4 23555237 [A/G] rs950950 4 23561662 [T/C] rs10017437 4 23566334 [T/C] rs13103252 4 23572152 [A/G] rs11727130 4 23574876 [A/G] rs10009448 4 23575883 [A/G] rs10470807 4 23581156 [T/C] rs7693965 4 23613573 [A/C] rs13121107 4 23615048 [A/G] rs10001239 4 23626018 [T/C] rs6845167 4 23631034 [T/C] rs13118539 4 23631863 [A/G] rs13123614 4 23638099 [A/G] rs1565535 4 23642370 [T/G] rs13109659 4 23666507 [A/G] rs4697408 4 23680862 [T/C] rs11736033 4 23688573 [A/G] rs1491377 4 23702558 [A/G] rs10938956 4 23705256 [A/G] rs1021400 4 23714895 [A/G] rs17572286 4 23724215 [A/G] rs7656180 4 23738906 [T/C] rs1565537 4 23739796 [A/G] rs963209 4 23744268 [T/C] rs1491384 4 23746704 [A/G] rs974083 4 23759262 [A/G] rs13122003 4 23759328 [T/C] exm2261692 4 23770218 [A/G] rs2970882 4 23788341 [T/C] rs2279525 4 23794252 [T/C] NM_013261 PPARGC1A EXON Silent rs6821591 4 23797000 [T/C] NM_013261 PPARGC1A EXON Silent exm2072194 4 23797521 [C/G] NM_013261 PPARGC1A EXON Missense_A774G exm2269730 4 23801187 [T/C] NM_013261 PPARGC1A Silent exm392323 4 23803448 [A/T] NM_013261 PPARGC1A EXON Missense_E733V exm392330 4 23803919 [T/C] NM_013261 PPARGC1A EXON Missense_R690Q rs2932965 4 23805486 [A/G] NM_013261 PPARGC1A Silent rs1873532 4 23806778 [A/C] NM_013261 PPARGC1A Silent exm392335 4 23814398 [T/C] NM_013261 PPARGC1A EXON Missense_Q664R exm392344 4 23814707 [A/G] NM_013261 PPARGC1A EXON Missense_T612M exm392345 4 23814710 [T/C] NM_013261 PPARGC1A EXON Missense_R611H indel.80441 4 23815308 [I/D] NM_013261 PPARGC1A exm392351 4 23815324 [T/G] NM_013261 PPARGC1A EXON Missense_R594S exm392353 4 23815367 [T/C] NM_013261 PPARGC1A EXON Missense_R580Q exm392355 4 23815376 [A/G] NM_013261 PPARGC1A EXON Missense_S577L exm392358 4 23815410 [A/G] NM_013261 PPARGC1A EXON Missense_R566C exm392363 4 23815506 [A/G] NM_013261 PPARGC1A EXON Missense_F534L exm392367 4 23815620 [T/G] NM_013261 PPARGC1A EXON Missense_K496Q exm392378 4 23815793 [A/G] NM_013261 PPARGC1A EXON Missense_L438S exm392379 4 23815878 [T/G] NM_013261 PPARGC1A EXON Missense_L410I exm392383 4 23816001 [T/C] NM_013261 PPARGC1A EXON Missense_E369K exm392386 4 23816049 [T/C] NM_013261 PPARGC1A EXON Missense_E353K exm392392 4 23816195 [A/G] NM_013261 PPARGC1A EXON Missense_A304V rs2932971 4 23818884 [T/C] NM_013261 PPARGC1A Silent rs3774908 4 23828934 [A/G] NM_013261 PPARGC1A Silent rs10938964 4 23840088 [A/G] NM_013261 PPARGC1A Silent rs7437482 4 23855974 [A/C] NM_013261 PPARGC1A Silent rs4235308 4 23864412 [T/C] NM_013261 PPARGC1A Silent rs4697426 4 23864809 [T/C] NM_013261 PPARGC1A Silent rs7656250 4 23866016 [T/C] NM_013261 PPARGC1A Silent rs10213440 4 23866339 [T/C] NM_013261 PPARGC1A Silent rs6838600 4 23875311 [A/G] NM_013261 PPARGC1A Silent exm392419 4 23886388 [A/G] NM_013261 PPARGC1A EXON Missense_S74L rs2970870 4 23893017 [A/G] rs2970863 4 23897796 [A/G] rs2970860 4 23901275 [A/G] rs10030083 4 23901422 [A/C] rs13108219 4 23908890 [A/C] rs2946403 4 23921453 [A/G] rs9291455 4 23962031 [A/G] rs13111174 4 23962061 [A/G] rs10020457 4 23962961 [A/G] rs2324237 4 23966042 [A/G] rs10517031 4 23968295 [A/G] rs2324233 4 23972751 [T/C] rs1316862 4 23976060 [A/G] rs1714638 4 23986967 [A/G] rs6833157 4 23994155 [A/G] rs668672 4 24001226 [T/C] rs6858449 4 24002981 [A/C] rs16874564 4 24009437 [T/C] rs7672552 4 24011608 [T/C] rs13142815 4 24014210 [A/C] rs2191598 4 24016473 [T/C] rs694917 4 24026356 [A/G] rs630902 4 24028621 [T/C] rs2109597 4 24031726 [T/C] rs618283 4 24035754 [T/C] rs10025406 4 24040555 [T/C] rs4697435 4 24047613 [T/C] rs625365 4 24048711 [T/C] rs626610 4 24055017 [A/G] rs584374 4 24057548 [T/C] rs647536 4 24060940 [A/G] rs3815420 4 24069770 [T/C] rs10938978 4 24074065 [A/G] rs16874990 4 24092877 [A/G] rs17188642 4 24105609 [T/C] rs16875028 4 24111301 [T/C] rs7680610 4 24118165 [A/G] rs2215492 4 24128287 [T/C] rs1705098 4 24144512 [A/C] rs1267016 4 24151604 [T/C] rs6839666 4 24176596 [T/C] rs9684046 4 24212477 [A/C] rs4697052 4 24223553 [A/G] rs6820131 4 24225918 [A/G] rs6448251 4 24230323 [A/C] rs7662477 4 24238470 [A/G] rs6448252 4 24238868 [T/G] rs6448254 4 24255842 [A/G] rs7688742 4 24256292 [T/C] rs7356453 4 24256496 [T/C] rs17581643 4 24262089 [T/C] rs17581877 4 24264901 [T/C] rs17648420 4 24267149 [T/C] rs16875481 4 24267644 [A/G] rs1511358 4 24268934 [T/C] rs11931856 4 24271794 [T/C] rs4697447 4 24275114 [T/C] rs7659588 4 24280482 [T/C] rs12646616 4 24298140 [A/G] rs1849098 4 24302785 [T/G] rs6815672 4 24310076 [A/G] rs9998315 4 24317057 [A/G] rs9994454 4 24322900 [A/G] rs9685879 4 24324261 [T/C] rs13143233 4 24336391 [T/C] rs11938023 4 24340511 [T/C] rs17649407 4 24342273 [T/C] rs10002552 4 24358882 [A/G] rs10007635 4 24369452 [T/C] rs6848313 4 24373046 [T/C] rs3857106 4 24379666 [A/C] rs4697455 4 24393041 [A/C] rs4406005 4 24410439 [T/C] rs7680809 4 24413937 [A/C] rs7690462 4 24424154 [T/C] rs4697458 4 24429852 [A/G] exm2264086 4 24438686 [A/C] rs6823107 4 24444785 [T/C] rs10025642 4 24454502 [T/C] rs10026526 4 24455932 [T/C] rs13112452 4 24456779 [T/C] rs3828483 4 24470847 [T/C] rs12506649 4 24480956 [A/C] exm2264046 4 24480956 [A/C] rs4697062 4 24483311 [T/C] rs7656078 4 24489441 [T/G] rs12651262 4 24514957 [A/C] rs7690565 4 24548678 [T/G] NM_001358 DHX15 Silent rs12509760 4 24554084 [A/G] NM_001358 DHX15 Silent exm392482 4 24578057 [A/C] NM_001358 DHX15 EXON Missense_A106S rs6812715 4 24584445 [T/C] NM_001358 DHX15 Silent exm392499 4 24585971 [T/C] NM_001358 DHX15 EXON Missense_G16S rs10939001 4 24593495 [T/C] rs10033408 4 24610039 [A/G] rs6825842 4 24618440 [A/G] rs13137535 4 24624240 [T/C] rs1395221 4 24626903 [T/G] rs7695254 4 24650004 [A/C] rs4295245 4 24672521 [A/G] rs12507254 4 24673420 [T/G] rs4499689 4 24676205 [A/G] rs4351004 4 24676608 [A/G] rs13101306 4 24686179 [A/G] rs16875929 4 24691463 [A/G] rs9994680 4 24696151 [T/C] rs6826722 4 24706382 [A/G] rs10013569 4 24710866 [A/G] rs7665329 4 24721636 [T/C] rs7666030 4 24728480 [A/G] rs1476880 4 24736258 [T/G] rs10012911 4 24742042 [T/G] rs7435399 4 24765819 [T/C] rs12501287 4 24776982 [T/C] rs13138705 4 24779506 [T/C] rs800421 4 24785911 [T/C] rs13434451 4 24786904 [A/G] rs699473 4 24796803 [T/C] kgp20980139 4 24801152 [G/C] NM_003102 SOD3 EXON Synonymous_A3A exm392505 4 24801226 [A/G] NM_003102 SOD3 EXON Missense_N28S rs11544040 4 24801236 [A/G] NM_003102 SOD3 EXON Synonymous_S31S exm392513 4 24801315 [A/G] NM_003102 SOD3 EXON Missense_A58T exm392515 4 24801414 [A/G] NM_003102 SOD3 EXON Missense_A91T kgp21991 4 24801949 [T/C] NM_003102 SOD3 EXON Silent kgp5150996 4 24801976 [T/C] NM_003102 SOD3 EXON Silent GA004000 4 24802100 [A/G] NM_003102 SOD3 EXON Silent rs800447 4 24802205 [A/C] NM_003102 SOD3 EXON Silent kgp6645457 4 24802412 [T/C] NM_003102 SOD3 EXON Silent exm392531 4 24810040 [T/C] NM_001130726,NM_173463 CCDC149,CCDC149 EXON Missense_G521R,Missense_G521R exm392533 4 24810093 [T/C] NM_001130726,NM_173463 CCDC149,CCDC149 EXON Missense_R503Q,Missense_R503Q exm392534 4 24810094 [A/G] NM_001130726,NM_173463 CCDC149,CCDC149 EXON Missense_R503W,Missense_R503W rs800452 4 24818097 [A/G] NM_001130726,NM_173463 CCDC149,CCDC149 Silent,Silent exm392553 4 24833212 [G/C] NM_001130726,NM_173463 CCDC149,CCDC149 EXON Missense_S294C,Missense_S294C rs6838713 4 24836416 [T/C] NM_001130726,NM_173463 CCDC149,CCDC149 Silent,Silent exm392562 4 24838893 [T/C] NM_001130726,NM_173463 CCDC149,CCDC149 EXON Missense_E207K,Missense_E207K exm392565 4 24838958 [T/C] NM_001130726,NM_173463 CCDC149,CCDC149 EXON Missense_R185Q,Missense_R185Q exm392574 4 24839878 [A/G] NM_001130726,NM_173463 CCDC149,CCDC149 EXON Missense_I130T,Missense_I130T exm392578 4 24854757 [T/A] NM_001130726,NM_173463 CCDC149,CCDC149 EXON Missense_K103N,Missense_K103N rs6812368 4 24856827 [T/G] NM_001130726,NM_173463 CCDC149,CCDC149 Silent,Silent rs800464 4 24856909 [A/G] NM_001130726,NM_173463 CCDC149,CCDC149 Silent,Silent rs800379 4 24871204 [T/C] NM_001130726,NM_173463 CCDC149,CCDC149 Silent,Silent variant.80447 4 24878158 [A/G] NM_001130726,NM_173463 CCDC149,CCDC149 EXON Synonymous_I75I,Synonymous_I75I exm392580 4 24878214 [T/C] NM_001130726,NM_173463 CCDC149,CCDC149 EXON Missense_A57T,Missense_A57T rs10517056 4 24885284 [T/C] NM_001130726,NM_173463 CCDC149,CCDC149 Silent,Silent rs4697489 4 24886099 [T/C] NM_001130726,NM_173463 CCDC149,CCDC149 Silent,Silent exm392582 4 24896658 [T/C] NM_001130726,NM_173463 CCDC149,CCDC149 EXON Silent,Missense_V7I rs4697493 4 24899586 [A/G] NM_001130726,NM_173463 CCDC149,CCDC149 Silent,Silent rs2695227 4 24901395 [T/C] NM_001130726,NM_173463 CCDC149,CCDC149 Silent,Silent rs4053966 4 24901466 [A/G] NM_001130726,NM_173463 CCDC149,CCDC149 Silent,Silent rs4697075 4 24902583 [A/C] NM_001130726,NM_173463 CCDC149,CCDC149 Silent,Silent rs4697076 4 24908601 [A/G] NM_001130726,NM_173463 CCDC149,CCDC149 Silent,Silent rs1527359 4 24932206 [T/G] NM_173463 CCDC149 Silent rs10008999 4 24938446 [A/G] NM_173463 CCDC149 Silent rs12645335 4 24939037 [A/G] NM_173463 CCDC149 Silent rs13105803 4 24940002 [A/G] NM_173463 CCDC149 Silent rs4235320 4 24955907 [A/G] NM_173463 CCDC149 Silent rs4697503 4 24956062 [A/G] NM_173463 CCDC149 Silent rs1453815 4 24957653 [T/C] NM_173463 CCDC149 Silent exm2240865 4 24981689 [A/T] NM_173463 CCDC149 Silent rs7668800 4 24983923 [A/G] rs4697082 4 24992827 [T/C] rs13135230 4 24996698 [A/G] rs7670138 4 25001685 [A/C] NM_018176 LGI2 EXON Silent rs3796787 4 25004778 [A/C] NM_018176 LGI2 EXON Silent rs2232030 4 25004971 [T/C] NM_018176 LGI2 EXON Silent indel.80449 4 25005331 [I/D] NM_018176 LGI2 EXON exm392598 4 25005356 [T/C] NM_018176 LGI2 EXON Missense_Q452R exm392599 4 25005380 [T/C] NM_018176 LGI2 EXON Missense_R444Q exm392604 4 25005431 [T/C] NM_018176 LGI2 EXON Missense_R427Q exm392611 4 25005537 [A/G] NM_018176 LGI2 EXON Missense_R392C exm392612 4 25005584 [A/G] NM_018176 LGI2 EXON Missense_A376V variant.80451 4 25005614 [A/G] NM_018176 LGI2 EXON Missense_S366L exm392617 4 25005698 [A/G] NM_018176 LGI2 EXON Missense_T338M rs4235326 4 25009491 [T/C] NM_018176 LGI2 Silent exm392636 4 25019619 [A/G] NM_018176 LGI2 EXON Missense_T216I rs6448323 4 25022408 [T/C] NM_018176 LGI2 Silent rs16876650 4 25024935 [T/C] NM_018176 LGI2 Silent exm392657 4 25028529 [T/C] NM_018176 LGI2 EXON Missense_R101Q exm392666 4 25032135 [T/C] NM_018176 LGI2 EXON Missense_G61S rs736831 4 25033008 [A/G] rs10939032 4 25036142 [T/C] rs4235328 4 25040676 [A/G] rs10488952 4 25041068 [A/C] rs2192444 4 25047177 [A/G] rs13124493 4 25048536 [A/G] rs11931069 4 25053498 [A/C] rs6856359 4 25056765 [A/G] rs759245 4 25058232 [A/G] rs6448329 4 25060758 [T/C] rs12641682 4 25065147 [A/G] rs7654693 4 25066309 [T/G] rs12502737 4 25066802 [A/C] rs2324654 4 25072651 [T/C] rs7693334 4 25081118 [A/G] rs16876761 4 25083127 [T/C] rs7682064 4 25087708 [T/C] rs6846989 4 25088919 [T/C] rs759243 4 25107115 [A/G] exm392677 4 25125665 [T/C] NM_016955 SEPSECS EXON Missense_R465Q exm392678 4 25125703 [G/C] NM_016955 SEPSECS EXON Missense_K452N exm392680 4 25125715 [T/G] NM_016955 SEPSECS EXON Missense_D448E exm392684 4 25125772 [T/G] NM_016955 SEPSECS EXON Nonsense_Y429X exm392685 4 25125783 [T/C] NM_016955 SEPSECS EXON Missense_T426A variant.80455 4 25128881 [A/G] NM_016955 SEPSECS Silent rs10213282 4 25135095 [T/C] NM_016955 SEPSECS Silent rs2302565 4 25146307 [A/G] NM_016955 SEPSECS Silent indel.80456 4 25146396 [D/I] NM_016955 SEPSECS EXON exm392698 4 25146641 [T/C] NM_016955 SEPSECS EXON Missense_S307G variant.80457 4 25153620 [A/C] NM_016955 SEPSECS EXON Nonsense_G256X exm392712 4 25156687 [G/C] NM_016955 SEPSECS EXON Missense_L212V exm392717 4 25156774 [T/C] NM_016955 SEPSECS Silent exm392724 4 25157782 [T/C] NM_016955 SEPSECS EXON Missense_M142V rs11937742 4 25163672 [A/G] NR_037934 LOC285540 Silent rs13139513 4 25168417 [A/G] NR_037934 LOC285540 Silent rs1909475 4 25200584 [T/C] rs12502384 4 25203905 [A/G] rs12505283 4 25204724 [A/C] rs313548 4 25237391 [A/G] NM_018323 PI4K2B Silent rs10006479 4 25255841 [T/C] NM_018323 PI4K2B Silent indel.80460 4 25256697 [I/D] NM_018323 PI4K2B EXON var_4_25256754 4 25256755 [I/D] NM_018323 PI4K2B EXON exm392757 4 25256846 [T/G] NM_018323 PI4K2B EXON Missense_V195L exm2072345 4 25258211 [A/G] NM_018323 PI4K2B EXON Missense_R224H exm392766 4 25260750 [A/G] NM_018323 PI4K2B EXON Missense_R283K exm392768 4 25260763 [T/G] NM_018323 PI4K2B EXON Missense_Q287H rs313543 4 25268962 [A/G] NM_018323 PI4K2B Silent variant.80463 4 25270830 [A/G] NM_018323 PI4K2B Silent exm2273389 4 25278988 [T/C] NM_018323 PI4K2B EXON Silent rs6834255 4 25279320 [A/G] NM_018323 PI4K2B EXON Silent rs12505006 4 25281948 [T/C] rs6448346 4 25294239 [T/G] rs7672293 4 25296348 [A/C] rs316807 4 25310351 [T/C] exm392797 4 25314478 [C/G] NM_024936 ZCCHC4 EXON Missense_S16T exm392801 4 25314520 [T/C] NM_024936 ZCCHC4 EXON Missense_P30L exm392810 4 25315754 [C/G] NM_024936 ZCCHC4 EXON Missense_D72H indel.80466 4 25315757 [D/I] NM_024936 ZCCHC4 EXON exm392811 4 25315760 [A/G] NM_024936 ZCCHC4 EXON Missense_N74D newrs192992705 4 25316979 [T/C] NM_024936 ZCCHC4 EXON Nonsense_R96X exm392812 4 25316979 [T/C] NM_024936 ZCCHC4 EXON Nonsense_R96X exm392813 4 25316980 [A/G] NM_024936 ZCCHC4 EXON Missense_R96Q exm392814 4 25317003 [T/C] NM_024936 ZCCHC4 EXON Nonsense_R104X rs1553876 4 25317277 [A/G] NM_024936 ZCCHC4 Silent rs10939051 4 25319698 [T/C] NM_024936 ZCCHC4 Silent rs12642624 4 25324899 [A/G] NM_024936 ZCCHC4 Silent rs2667295 4 25327288 [T/G] NM_024936 ZCCHC4 Silent exm392817 4 25334918 [A/G] NM_024936 ZCCHC4 EXON Missense_N148S exm392818 4 25334930 [A/C] NM_024936 ZCCHC4 EXON Missense_T152N variant.80470 4 25334933 [A/C] NM_024936 ZCCHC4 EXON Missense_Q153P exm392820 4 25334950 [A/C] NM_024936 ZCCHC4 EXON Missense_Q159K exm392830 4 25335580 [T/C] NM_024936 ZCCHC4 EXON Missense_I219T rs316783 4 25342463 [A/C] NM_024936 ZCCHC4 Silent exm392834 4 25347205 [A/G] NM_024936 ZCCHC4 EXON Missense_H241R indel.80472 4 25347225 [I/D] NM_024936 ZCCHC4 EXON exm2072372 4 25353267 [T/C] NM_024936 ZCCHC4 EXON Nonsense_R323X rs184360 4 25362101 [A/G] NM_024936 ZCCHC4 Silent exm392851 4 25363563 [T/C] NM_024936 ZCCHC4 EXON Missense_P365L exm392853 4 25363859 [T/C] NM_024936 ZCCHC4 EXON Missense_P382L exm392859 4 25363901 [T/A] NM_024936 ZCCHC4 EXON Missense_L396H exm392861 4 25363919 [A/C] NM_024936 ZCCHC4 EXON Missense_S402Y indel.80474 4 25366106 [D/I] NM_024936 ZCCHC4 EXON exm392867 4 25366746 [A/G] NM_024936 ZCCHC4 EXON Missense_R455H exm392871 4 25370666 [T/G] NM_024936 ZCCHC4 EXON Missense_Q474H exm392872 4 25370669 [T/G] NM_024936 ZCCHC4 EXON Missense_K475N exm392873 4 25370670 [A/C] NM_024936 ZCCHC4 EXON Missense_Q476K rs10027814 4 25386559 [A/G] NM_013367 ANAPC4 Silent exm-rs16877106 4 25403266 [T/C] NM_013367 ANAPC4 Silent rs3756202 4 25407356 [A/G] NM_013367 ANAPC4 Silent exm392932 4 25408838 [A/G] NM_013367 ANAPC4 EXON Missense_R465Q rs1993602 4 25415106 [T/C] NM_013367 ANAPC4 Silent exm392940 4 25415982 [A/G] NM_013367 ANAPC4 EXON Missense_I554V exm-rs3816587 4 25417244 [T/C] NM_013367 ANAPC4 Silent rs10517073 4 25417371 [A/G] NM_013367 ANAPC4 Silent exm392960 4 25419239 [T/C] NM_013367 ANAPC4 EXON Synonymous_L693L exm2256558 4 25419283 [T/C] NM_013367 ANAPC4 EXON Synonymous_F707F rs6852016 4 25440525 [A/G] rs10008104 4 25444762 [A/G] rs3851436 4 25464878 [A/G] rs13114364 4 25465790 [T/C] rs12650434 4 25475192 [A/G] rs4697098 4 25486335 [A/C] rs6851586 4 25500479 [A/G] rs989263 4 25502383 [T/C] rs6448365 4 25507698 [A/G] rs4053860 4 25514402 [A/G] rs4697584 4 25533554 [A/C] rs9991078 4 25554332 [T/C] rs1980239 4 25562241 [T/C] rs6830401 4 25562386 [T/C] rs7689639 4 25575537 [A/G] exm2265824 4 25575537 [A/G] rs13147366 4 25576330 [T/C] rs10013819 4 25577184 [A/G] rs4697106 4 25587743 [T/G] rs16877296 4 25592650 [A/G] rs939356 4 25615723 [A/C] rs9992129 4 25616103 [T/G] rs7676077 4 25629255 [T/C] rs10517077 4 25638736 [T/G] rs4580639 4 25645165 [T/C] rs6448388 4 25654566 [A/G] rs11721800 4 25656404 [T/C] variant.80478 4 25664195 [T/C] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Nonsense_Q25X,Nonsense_Q25X,Nonsense_Q25X exm392986 4 25664344 [T/C] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_P44S,Missense_P43S,Missense_P43S exm392987 4 25664345 [G/C] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_P44R,Missense_P43R,Missense_P43R exm392988 4 25664348 [T/C] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_V45A,Missense_V44A,Missense_V44A exm392990 4 25664378 [C/G] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_S55C,Missense_S54C,Missense_S54C exm392991 4 25664381 [T/C] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_T56M,Missense_T55M,Missense_T55M newrs191211377 4 25669618 [A/G] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 Silent,Silent,Silent rs3815464 4 25671043 [T/C] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 Silent,Silent,Silent exm393016 4 25671333 [A/G] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_V234M,Missense_V233M,Missense_V233M exm393022 4 25672369 [A/G] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_K281E,Missense_K280E,Missense_K280E variant.80482 4 25672455 [T/G] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_K309N,Missense_K308N,Missense_K308N exm393026 4 25673231 [T/G] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_I312M,Missense_I311M,Missense_I311M exm393030 4 25673269 [T/C] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_P325L,Missense_P324L,Missense_P324L rs3796777 4 25674194 [T/C] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 Silent,Silent,Silent exm393039 4 25674739 [T/C] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_P360L,Missense_P359L,Missense_P359L exm393041 4 25674867 [A/G] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_I403V,Missense_I402V,Missense_I402V exm393049 4 25675943 [C/G] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_L414F,Missense_L413F,Missense_L413F exm393051 4 25675965 [A/G] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_V422I,Missense_V421I,Missense_V421I exm393053 4 25675989 [A/G] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_V430I,Missense_V429I,Missense_V429I exm2256559 4 25676167 [A/G] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Synonymous_T458T,Synonymous_T457T,Synonymous_T457T exm393062 4 25676253 [T/C] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 Silent,Silent,Silent exm393064 4 25677835 [C/G] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_R513G,Missense_R512G,Missense_R512G exm393086 4 25678199 [A/G] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_D634G,Missense_D633G,Missense_D633G exm393094 4 25678358 [C/G] NM_006424,NM_001177998,NM_001177999 SLC34A2,SLC34A2,SLC34A2 EXON Missense_C687S,Missense_C686S,Missense_C686S rs10005751 4 25681990 [A/C] rs13152663 4 25707422 [A/G] rs11721812 4 25730546 [T/C] rs4395489 4 25740206 [T/C] rs6823673 4 25744431 [T/C] rs4697608 4 25745489 [A/G] exm393098 4 25750082 [A/G] NM_015187 SEL1L3 EXON Missense_P1122S exm393099 4 25750135 [G/C] NM_015187 SEL1L3 EXON Missense_S1104C exm393101 4 25750145 [T/G] NM_015187 SEL1L3 EXON Missense_T1101P rs4697613 4 25758940 [A/G] NM_015187 SEL1L3 Silent rs4697614 4 25758995 [T/C] NM_015187 SEL1L3 Silent exm393106 4 25759334 [G/C] NM_015187 SEL1L3 EXON Missense_W1054C rs2276953 4 25760828 [T/C] NM_015187 SEL1L3 Silent rs6810985 4 25765527 [A/G] NM_015187 SEL1L3 Silent exm393122 4 25769216 [A/G] NM_015187 SEL1L3 EXON Missense_Y926H rs7686038 4 25769971 [T/C] NM_015187 SEL1L3 Silent rs2309286 4 25779985 [A/G] NM_015187 SEL1L3 Silent exm393130 4 25780803 [T/C] NM_015187 SEL1L3 EXON Missense_H827R rs4697619 4 25780891 [A/G] NM_015187 SEL1L3 Silent variant.80487 4 25783864 [T/C] NM_015187 SEL1L3 EXON Synonymous_Q819Q rs7667794 4 25784732 [A/G] NM_015187 SEL1L3 Silent rs9997403 4 25784979 [A/C] NM_015187 SEL1L3 Silent rs3733543 4 25803830 [A/G] NM_015187 SEL1L3 Silent exm393152 4 25806270 [T/C] NM_015187 SEL1L3 EXON Missense_I557V exm393153 4 25806279 [T/C] NM_015187 SEL1L3 EXON Missense_I554V exm-rs959903 4 25810096 [A/G] NM_015187 SEL1L3 Silent rs1378952 4 25818473 [T/C] NM_015187 SEL1L3 Silent rs729317 4 25818674 [A/G] NM_015187 SEL1L3 Silent exm393164 4 25819793 [A/G] NM_015187 SEL1L3 EXON Missense_F511L rs9991383 4 25820615 [T/C] NM_015187 SEL1L3 Silent exm393179 4 25823623 [T/C] NM_015187 SEL1L3 EXON Missense_A429T indel.80488 4 25823663 [I/D] NM_015187 SEL1L3 EXON indel.80489 4 25831737 [I/D] NM_015187 SEL1L3 EXON exm393185 4 25831756 [T/C] NM_015187 SEL1L3 EXON Missense_G374E exm393187 4 25834624 [T/C] NM_015187 SEL1L3 EXON Missense_G364E exm393189 4 25834670 [T/C] NM_015187 SEL1L3 EXON Missense_I349V exm393191 4 25834731 [A/G] NM_015187 SEL1L3 EXON Synonymous_G328G exm393192 4 25835078 [A/G] NM_015187 SEL1L3 EXON Missense_T325M exm393193 4 25835100 [T/C] NM_015187 SEL1L3 EXON Missense_G318S exm393198 4 25836819 [A/G] NM_015187 SEL1L3 EXON Missense_V287A exm393201 4 25836878 [T/G] NM_015187 SEL1L3 EXON Missense_F267L rs6448409 4 25846377 [A/C] NM_015187 SEL1L3 Silent exm393211 4 25849141 [A/C] NM_015187 SEL1L3 EXON Missense_A170S exm393216 4 25849329 [T/C] NM_015187 SEL1L3 EXON Missense_Q107R exm393218 4 25849363 [T/C] NM_015187 SEL1L3 EXON Missense_V96I rs6831024 4 25863375 [T/G] NM_015187 SEL1L3 Silent rs6820540 4 25874058 [A/G] rs1545606 4 25875261 [A/G] rs13118224 4 25880334 [T/C] rs7681279 4 25881877 [T/C] rs6818008 4 25908919 [A/G] rs9647441 4 25911176 [T/C] exm2269732 4 25913155 [T/C] rs878552 4 25913155 [T/C] exm393227 4 25915957 [A/G] NM_001145432 C4orf52 EXON Missense_A8T rs6828696 4 25919478 [T/C] NM_001145432 C4orf52 Silent rs554 4 25931325 [A/G] NM_001145432 C4orf52 EXON Silent rs2309291 4 25940635 [A/C] rs6448417 4 25942460 [T/C] rs7654585 4 25942751 [A/G] rs10939086 4 25950606 [A/G] rs4692188 4 25951539 [A/G] rs6820447 4 25961788 [T/C] rs936235 4 25970163 [T/C] rs936236 4 25970325 [T/C] rs16877848 4 25975111 [T/C] rs10006741 4 25976544 [T/C] rs11728123 4 25983887 [A/G] rs4406006 4 25991628 [T/C] rs6828206 4 25993237 [T/G] rs6828245 4 25993373 [A/C] rs6837551 4 26005161 [T/C] rs12647908 4 26016156 [T/C] rs1027998 4 26017406 [A/G] rs6847589 4 26018690 [A/G] rs2063531 4 26019058 [A/G] rs17685537 4 26021208 [A/G] rs1512104 4 26021310 [A/G] rs4269167 4 26025756 [T/C] rs9884830 4 26027797 [T/C] rs6846440 4 26028805 [T/C] rs9790578 4 26034030 [T/C] rs10155365 4 26056021 [A/G] rs13126784 4 26057402 [A/G] rs10032780 4 26060048 [T/C] rs2048507 4 26079164 [T/C] rs17697588 4 26079216 [T/C] rs6818978 4 26083058 [T/C] rs10517086 4 26085511 [A/G] exm-rs10517086 4 26085511 [A/G] rs6827904 4 26094755 [T/G] exm-rs874040 4 26108197 [C/G] rs1877384 4 26112846 [A/G] rs9991113 4 26121018 [A/G] rs7682322 4 26136773 [T/C] rs12650853 4 26160310 [A/C] rs13115567 4 26163108 [T/C] rs13150492 4 26166250 [A/G] rs9291482 4 26167227 [A/G] rs1512105 4 26175955 [T/C] rs6824647 4 26177372 [T/C] rs6817712 4 26192444 [A/G] rs10017756 4 26197873 [A/G] rs11735620 4 26213763 [T/C] rs1006802 4 26237157 [A/G] rs7655052 4 26273910 [T/C] rs13109468 4 26280575 [T/C] rs2871198 4 26292555 [T/C] rs2271384 4 26300494 [A/G] rs17644283 4 26308792 [A/G] rs3822223 4 26321906 [A/C] NM_005349,NM_203283 RBPJ,RBPJ Silent,Silent exm393234 4 26322449 [C/G] NM_005349,NM_203283,NM_203284,NM_015874 RBPJ,RBPJ,RBPJ,RBPJ EXON Silent,Silent,Silent,Silent rs13128399 4 26337615 [T/C] NM_005349,NM_203283,NM_203284,NM_015874 RBPJ,RBPJ,RBPJ,RBPJ Silent,Silent,Silent,Silent kgp6806927 4 26338592 [T/C] NM_005349,NM_203283,NM_203284,NM_015874 RBPJ,RBPJ,RBPJ,RBPJ Silent,Silent,Silent,Silent rs6821126 4 26342538 [T/G] NM_005349,NM_203283,NM_203284,NM_015874 RBPJ,RBPJ,RBPJ,RBPJ Silent,Silent,Silent,Silent 1KG_4_26407846 4 26407846 [I/D] NM_005349,NM_203283,NM_203284,NM_015874 RBPJ,RBPJ,RBPJ,RBPJ EXON rs3109836 4 26408827 [A/C] NM_005349,NM_203283,NM_203284,NM_015874 RBPJ,RBPJ,RBPJ,RBPJ Silent,Silent,Silent,Silent rs2788864 4 26416113 [A/G] NM_005349,NM_203283,NM_203284,NM_015874 RBPJ,RBPJ,RBPJ,RBPJ Silent,Silent,Silent,Silent exm393265 4 26417161 [A/C] NM_005349,NM_203283,NM_203284,NM_015874 RBPJ,RBPJ,RBPJ,RBPJ EXON Missense_M87L,Missense_M72L,Missense_M73L,Missense_M74L exm393285 4 26431635 [T/C] NM_005349,NM_203283,NM_203284,NM_015874 RBPJ,RBPJ,RBPJ,RBPJ EXON Missense_L348P,Missense_L333P,Missense_L334P,Missense_L335P exm393286 4 26431638 [T/C] NM_005349,NM_203283,NM_203284,NM_015874 RBPJ,RBPJ,RBPJ,RBPJ EXON Missense_A349V,Missense_A334V,Missense_A335V,Missense_A336V variant.80495 4 26432569 [A/C] NM_005349,NM_203283,NM_203284,NM_015874 RBPJ,RBPJ,RBPJ,RBPJ EXON Nonsense_Y481X,Nonsense_Y466X,Nonsense_Y467X,Nonsense_Y468X exm393302 4 26432576 [A/G] NM_005349,NM_203283,NM_203284,NM_015874 RBPJ,RBPJ,RBPJ,RBPJ EXON Missense_A484T,Missense_A469T,Missense_A470T,Missense_A471T rs10805262 4 26439223 [T/C] rs10517099 4 26439486 [A/C] rs6818128 4 26451326 [A/G] rs7691160 4 26457487 [T/G] rs6826952 4 26460991 [T/C] rs13144195 4 26461373 [T/C] rs967413 4 26480145 [T/G] rs2854030 4 26482021 [T/C] exm2240884 4 26483276 [A/G] NM_000730 CCKAR EXON Missense_S424L exm393318 4 26483454 [T/C] NM_000730 CCKAR EXON Missense_V365I exm393327 4 26483637 [T/G] NM_000730 CCKAR EXON Missense_N304H exm393343 4 26484805 [T/C] NM_000730 CCKAR EXON Missense_E243K exm393349 4 26484904 [A/G] NM_000730 CCKAR EXON Missense_H210Y rs7665027 4 26486909 [A/G] NM_000730 CCKAR Silent exm393359 4 26487361 [A/G] NM_000730 CCKAR EXON Missense_P175L exm393363 4 26487431 [A/G] NM_000730 CCKAR EXON Missense_W152R exm393365 4 26487443 [G/C] NM_000730 CCKAR EXON Missense_Q148E exm393366 4 26487460 [A/G] NM_000730 CCKAR EXON Missense_A142V rs2725307 4 26489057 [A/C] NM_000730 CCKAR Silent exm2072626 4 26490914 [T/C] NM_000730 CCKAR EXON Missense_N102S exm393376 4 26490969 [A/C] NM_000730 CCKAR EXON Missense_A84S 1KG_4_26491098 4 26491098 [D/I] NM_000730 CCKAR EXON exm393395 4 26491793 [T/G] NM_000730 CCKAR EXON Missense_P33T rs2854038 4 26493209 [A/G] rs869902 4 26498513 [A/C] rs10031898 4 26499696 [T/C] rs11733591 4 26501114 [T/C] rs2130250 4 26504157 [T/G] rs902096 4 26522786 [T/C] rs1387542 4 26533333 [T/C] rs6838762 4 26534959 [A/G] rs9992993 4 26551172 [T/C] rs166353 4 26613455 [T/C] NM_018317 TBC1D19 Silent rs1362505 4 26619425 [A/G] NM_018317 TBC1D19 Silent exm393413 4 26622257 [T/G] NM_018317 TBC1D19 EXON Missense_A81S exm393421 4 26641770 [A/C] NM_018317 TBC1D19 EXON Missense_S147R variant.80498 4 26641814 [A/G] NM_018317 TBC1D19 Silent exm393424 4 26661234 [T/C] NM_018317 TBC1D19 EXON Missense_R166C exm393437 4 26675415 [A/G] NM_018317 TBC1D19 EXON Missense_S241G exm393439 4 26675455 [T/C] NM_018317 TBC1D19 EXON Missense_T254M rs4583745 4 26690284 [A/G] NM_018317 TBC1D19 Silent exm393465 4 26741578 [A/G] NM_018317 TBC1D19 EXON Missense_I404V exm393474 4 26756541 [A/G] NM_018317 TBC1D19 EXON Missense_Q518R rs1129230 4 26756855 [A/C] NM_018317 TBC1D19 EXON Silent rs5024581 4 26780582 [A/G] rs4261979 4 26809177 [A/G] rs7692829 4 26822377 [A/G] rs7676115 4 26826309 [T/C] rs6448475 4 26831827 [T/C] rs3924178 4 26843494 [A/G] rs7688662 4 26844469 [A/G] rs7660174 4 26852438 [T/G] rs4133239 4 26853232 [T/C] rs10006403 4 26873700 [A/G] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 Silent,Silent,Silent rs6815719 4 26881854 [A/G] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 Silent,Silent,Silent kgp10100945 4 26886206 [A/C] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 Silent,Silent,Silent rs6844153 4 26944314 [T/C] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 Silent,Silent,Silent rs7658174 4 26945149 [A/G] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 Silent,Silent,Silent rs10030655 4 26950265 [T/C] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 Silent,Silent,Silent kgp11886052 4 26958876 [A/G] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 Silent,Silent,Silent kgp5575905 4 26959207 [T/C] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 Silent,Silent,Silent rs16878655 4 26966277 [A/G] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 Silent,Silent,Silent exm393503 4 27000886 [A/C] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Missense_S181Y,Missense_S181Y,Missense_S181Y rs6822297 4 27000995 [A/G] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 Silent,Silent,Silent rs6855865 4 27011357 [A/G] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 Silent,Silent,Silent rs6830950 4 27016468 [T/C] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 Silent,Silent,Silent exm393538 4 27019334 [T/G] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Synonymous_G497G,Synonymous_G497G,Synonymous_G505G exm393542 4 27019393 [A/G] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Missense_R517H,Missense_R517H,Missense_R525H exm393550 4 27019452 [T/C] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Missense_H537Y,Missense_H537Y,Missense_H545Y exm393551 4 27019456 [T/C] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Missense_P538L,Missense_P538L,Missense_P546L exm393558 4 27019510 [T/C] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Missense_S556F,Missense_S556F,Missense_S564F exm393562 4 27024173 [T/C] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Silent,Missense_S599F,Missense_S607F exm393571 4 27024347 [T/C] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Silent,Missense_T657I,Missense_T665I exm393580 4 27024524 [A/G] NM_001169117,NM_020860,NM_001169118 STIM2,STIM2,STIM2 EXON Silent,Missense_R716K,Missense_R724K rs16878720 4 27045049 [T/C] rs7678869 4 27060775 [T/C] rs4692020 4 27067027 [T/C] rs7653933 4 27081704 [A/G] rs12503097 4 27097098 [A/G] rs2075093 4 27097696 [T/G] rs2041627 4 27102429 [A/C] rs6835095 4 27103530 [T/C] rs16878852 4 27115685 [T/C] rs969949 4 27122947 [T/C] rs13148066 4 27130269 [T/G] rs10939150 4 27134618 [A/G] rs6853864 4 27139247 [A/G] rs16878895 4 27148758 [A/G] rs16878908 4 27152560 [A/C] rs1013532 4 27157313 [A/G] rs1352374 4 27157547 [T/C] exm-rs11940551 4 27162478 [T/G] rs6448500 4 27166535 [A/G] exm2269910 4 27167833 [T/C] rs13101823 4 27175502 [A/G] rs1488290 4 27197786 [T/C] rs6826441 4 27202594 [A/G] rs1488268 4 27209559 [T/G] rs2046701 4 27211040 [A/C] rs13127219 4 27211999 [T/C] exm2256563 4 27216501 [T/C] rs4639059 4 27216501 [T/C] rs901833 4 27216751 [A/G] rs13118735 4 27219736 [A/G] rs2029319 4 27229288 [A/C] rs7673254 4 27235976 [A/G] rs13121254 4 27239274 [T/C] rs10015926 4 27241002 [A/G] rs7356206 4 27254091 [A/C] rs10939154 4 27276248 [A/G] rs6848074 4 27280902 [A/G] rs6854189 4 27294467 [A/G] rs6821695 4 27298305 [T/C] rs12644961 4 27324215 [A/G] rs11727052 4 27326253 [A/G] rs4692196 4 27339904 [T/C] rs9291495 4 27355782 [T/G] rs2215745 4 27358898 [A/G] rs16879192 4 27362571 [T/C] rs2871278 4 27367496 [A/G] rs6448515 4 27374368 [T/G] rs13107491 4 27383785 [A/G] rs7672972 4 27405561 [T/C] rs4692206 4 27409678 [A/C] rs210760 4 27412242 [A/G] rs210761 4 27412694 [T/C] rs210749 4 27438947 [T/C] rs210782 4 27450750 [A/C] rs10025989 4 27459128 [T/C] rs6849304 4 27474865 [A/G] rs6856266 4 27483170 [A/G] rs1378788 4 27496294 [A/G] rs1993400 4 27496410 [T/C] rs1375757 4 27534772 [T/C] rs12504241 4 27539764 [A/G] rs16879469 4 27542201 [A/C] rs1449756 4 27542684 [T/C] rs10009898 4 27548905 [T/C] rs10506518 4 27560693 [A/G] rs6856564 4 27584802 [T/G] rs4599400 4 27600788 [T/C] rs16879587 4 27602132 [A/C] rs7658517 4 27602249 [T/C] rs7697958 4 27614790 [T/C] rs6448527 4 27624165 [T/C] rs6838915 4 27634979 [T/G] rs7671071 4 27637428 [A/G] rs9291503 4 27658052 [T/C] rs2034472 4 27661645 [T/G] rs7671299 4 27661893 [A/G] rs297291 4 27671803 [T/C] rs6846226 4 27675410 [T/C] rs297279 4 27680483 [T/C] rs1449766 4 27687397 [A/G] rs1031311 4 27694893 [T/G] rs297316 4 27702295 [A/G] rs297306 4 27715503 [A/G] rs1992981 4 27719790 [A/G] rs13126571 4 27725689 [A/G] rs6841905 4 27727259 [A/G] rs10028171 4 27735936 [T/C] rs4692256 4 27744718 [T/C] rs13110484 4 27757391 [T/C] exm2265681 4 27760141 [A/G] rs10014448 4 27760141 [A/G] rs2202258 4 27779332 [A/G] rs7685758 4 27782417 [T/C] rs2309628 4 27790945 [T/C] rs13119429 4 27792360 [T/C] rs16879791 4 27795958 [T/C] rs13144861 4 27797571 [T/C] rs7686302 4 27805588 [A/C] rs12643611 4 27811805 [T/C] rs13112218 4 27812345 [T/C] rs17671452 4 27813390 [A/G] rs16879832 4 27821792 [A/G] rs7660570 4 27824071 [T/C] rs6832303 4 27833499 [A/G] rs6829231 4 27837969 [A/C] rs12640014 4 27848155 [A/C] rs6856472 4 27871868 [T/C] rs7656782 4 27878240 [A/C] rs10939176 4 27882142 [T/C] rs6842063 4 27896510 [T/C] rs11736171 4 27897437 [T/C] rs6857890 4 27902479 [A/G] rs16879958 4 27902560 [T/C] rs1038441 4 27907123 [A/C] rs17616508 4 27907530 [T/C] rs1292621 4 27914446 [T/C] rs4692262 4 27924831 [A/C] rs6844406 4 27928459 [A/G] rs10016121 4 27931573 [A/G] rs6813435 4 27943218 [A/G] rs756526 4 27943852 [T/C] rs16880018 4 27946125 [A/G] rs2067760 4 27955784 [A/G] rs9884587 4 27966505 [T/C] rs10029165 4 27975847 [A/G] rs929620 4 27983025 [T/C] rs12511506 4 27997335 [T/C] rs11932274 4 28000670 [T/G] rs4692270 4 28003277 [T/C] rs1405674 4 28017651 [A/C] rs1527339 4 28024351 [A/G] rs4692272 4 28036809 [T/C] rs2110506 4 28046364 [T/C] rs13116924 4 28067758 [A/G] rs1918326 4 28071228 [T/C] rs6850690 4 28077002 [A/G] rs10033212 4 28090064 [A/G] rs10031833 4 28101706 [T/C] rs2037766 4 28104319 [T/C] rs1609116 4 28122494 [T/G] rs1527328 4 28157447 [A/C] rs1918316 4 28158977 [A/G] rs13130395 4 28170335 [A/G] rs6835345 4 28175258 [A/G] rs12642383 4 28194516 [A/G] rs10009033 4 28194748 [A/G] exm2264087 4 28202490 [A/C] rs16880367 4 28216699 [A/G] rs4692293 4 28224533 [T/G] rs10517137 4 28226334 [A/C] rs2173279 4 28237783 [A/C] rs1497716 4 28270157 [A/C] rs7654040 4 28305543 [T/C] rs4267724 4 28315343 [T/G] rs2036184 4 28345775 [T/C] rs7685059 4 28347050 [A/G] rs10517141 4 28352417 [T/C] rs7655306 4 28352861 [T/C] rs7678990 4 28353593 [A/G] rs16880558 4 28378505 [T/C] rs1282883 4 28379401 [A/G] rs7674497 4 28391626 [T/C] rs1510705 4 28405478 [A/G] rs13435193 4 28415051 [T/G] rs16880624 4 28419921 [A/G] rs2250259 4 28433243 [A/G] rs3907987 4 28440972 [T/C] rs12642662 4 28470784 [T/C] exm2256568 4 28473048 [A/C] rs7656054 4 28480415 [A/G] rs7653895 4 28485201 [T/C] rs11937136 4 28503413 [T/G] rs2136818 4 28539800 [T/C] rs292016 4 28544298 [T/G] rs17698720 4 28549589 [A/G] rs12645493 4 28555328 [A/G] rs6448587 4 28561990 [A/C] rs2943159 4 28587729 [T/G] rs3114003 4 28590366 [T/G] rs11945665 4 28603169 [A/C] rs17644064 4 28608116 [A/G] rs12509357 4 28614705 [T/C] rs11943453 4 28618870 [A/G] rs4334744 4 28648262 [T/C] rs7695573 4 28652911 [T/C] exm2256569 4 28669712 [A/G] rs7663065 4 28687406 [A/G] rs4692338 4 28691851 [A/G] rs11937968 4 28692384 [A/G] rs16880969 4 28702554 [T/G] rs7693029 4 28703891 [A/G] rs6811481 4 28713717 [T/C] rs9685881 4 28718528 [T/C] rs4692342 4 28723573 [T/C] rs12508326 4 28745882 [A/G] rs16881041 4 28750923 [T/C] rs12508012 4 28758097 [T/C] rs7664880 4 28769842 [T/G] rs1493139 4 28776140 [T/C] rs7686662 4 28790775 [T/G] rs9991797 4 28795213 [T/G] rs2131464 4 28795758 [T/C] rs6844183 4 28821006 [A/G] rs16881070 4 28831639 [T/G] rs6850240 4 28832388 [A/G] rs2029669 4 28833274 [T/C] rs4441746 4 28843468 [T/G] rs12645808 4 28851586 [T/C] rs7698028 4 28863159 [A/G] exm2265825 4 28872833 [A/G] rs7658708 4 28887284 [A/G] rs12647787 4 28901589 [A/G] rs1344017 4 28920120 [A/G] rs1402492 4 28923633 [T/G] rs2222357 4 28932131 [A/C] rs12642441 4 28933593 [T/G] rs4326073 4 28935317 [A/G] rs4639141 4 28945208 [A/G] rs16881195 4 28950110 [T/C] rs16881220 4 28954136 [T/C] rs17705257 4 28955155 [T/C] rs13148843 4 28956166 [T/C] rs7696952 4 28956361 [T/C] rs16881249 4 28957536 [T/C] rs7688399 4 28967598 [A/G] rs6815902 4 28975242 [T/C] rs6843077 4 28979210 [T/C] rs7664803 4 28983128 [A/G] rs13108377 4 28999923 [A/C] rs1402487 4 29016593 [A/G] rs2049156 4 29018173 [A/G] rs17655022 4 29030161 [T/G] rs3924180 4 29046559 [T/C] rs7677192 4 29048204 [A/G] rs4128512 4 29060867 [T/C] rs1402481 4 29069894 [A/G] rs13103421 4 29081919 [T/C] rs11934543 4 29095909 [A/G] rs12644773 4 29106713 [T/C] rs10009272 4 29126230 [T/C] rs7671430 4 29135608 [T/C] rs6820781 4 29141525 [A/G] rs10939245 4 29154922 [T/G] rs4285149 4 29164477 [A/C] rs1507439 4 29195105 [T/G] rs10517155 4 29203553 [T/C] rs2019100 4 29224491 [T/C] rs13121140 4 29247786 [A/G] rs6837434 4 29249394 [A/G] rs11947802 4 29275203 [A/G] rs10033492 4 29287401 [A/C] rs4588519 4 29303608 [T/C] rs1821685 4 29311144 [T/C] rs13114893 4 29314598 [T/C] rs4604115 4 29317918 [A/C] rs1836779 4 29330467 [T/C] rs1025605 4 29331117 [A/G] rs13103862 4 29335025 [A/G] rs6448638 4 29335563 [T/C] exm2269735 4 29339030 [T/C] rs195444 4 29364680 [A/G] rs181999 4 29365966 [A/G] rs997412 4 29379799 [T/G] rs988366 4 29382730 [A/G] rs11936766 4 29400203 [A/G] rs166333 4 29404976 [T/C] rs260122 4 29407530 [A/G] rs1155595 4 29419157 [A/C] rs16881804 4 29423741 [A/G] rs16881823 4 29430546 [A/C] rs2310033 4 29441731 [T/C] rs6843590 4 29452617 [A/C] rs13142018 4 29458432 [T/G] rs7666825 4 29496936 [A/C] rs7654387 4 29502336 [A/G] rs13106649 4 29508260 [T/C] rs10517167 4 29508413 [T/G] rs6818222 4 29520647 [A/G] rs10019636 4 29524988 [T/C] rs11723936 4 29532602 [T/C] kgp9103577 4 29533158 [T/C] kgp45685 4 29534091 [A/C] rs1441670 4 29590146 [A/G] rs10029448 4 29612773 [A/C] rs16882044 4 29649572 [T/C] rs4692410 4 29663459 [T/G] rs13103435 4 29673009 [A/G] rs13103446 4 29673019 [A/G] rs10033986 4 29689796 [A/G] rs13128006 4 29693864 [T/C] rs13104601 4 29696261 [T/C] rs16882167 4 29712547 [A/G] rs16882170 4 29713447 [T/C] rs12641649 4 29725653 [A/G] rs12641755 4 29726094 [A/G] rs2310077 4 29729748 [A/C] rs6853827 4 29735485 [T/C] rs16882206 4 29740429 [T/C] rs16882209 4 29743040 [T/C] rs17735010 4 29743168 [A/G] exm2264049 4 29755511 [A/C] rs7664238 4 29755511 [A/C] rs10020813 4 29756029 [A/G] rs16882245 4 29770254 [A/G] rs16882258 4 29775082 [T/C] rs2062844 4 29783037 [T/C] rs1995488 4 29801069 [T/C] rs16882325 4 29802167 [T/C] rs1503971 4 29811570 [T/C] rs16882354 4 29817230 [T/C] rs28655724 4 29825693 [T/C] rs2202308 4 29826189 [A/G] rs1472711 4 29837834 [T/C] rs10939282 4 29857785 [T/C] rs1394130 4 29869342 [T/C] rs10016642 4 29892538 [A/C] exm-rs7442317 4 29903052 [A/G] rs7442317 4 29903052 [A/G] rs16882465 4 29909867 [A/C] rs10001348 4 29912308 [A/G] rs1503966 4 29929502 [T/C] rs6837917 4 29949591 [T/C] rs10028915 4 29953808 [A/G] rs4692430 4 29962266 [T/C] rs6848673 4 29972531 [T/C] rs11943991 4 29982657 [A/G] rs4466010 4 29983877 [A/G] rs10939287 4 29985899 [A/G] exm2264088 4 29998461 [A/C] rs10012732 4 30005434 [T/C] rs6840125 4 30025294 [T/C] rs4692435 4 30055645 [A/G] rs4377550 4 30059039 [T/C] rs12499826 4 30063389 [T/C] rs2613180 4 30132119 [T/C] rs2571483 4 30144820 [T/C] rs6836424 4 30161847 [T/G] rs16882976 4 30168595 [A/G] rs7698204 4 30173651 [T/G] rs1369184 4 30180666 [T/C] rs2256587 4 30184038 [A/G] rs976057 4 30193761 [T/C] rs2871431 4 30214893 [A/G] rs2571486 4 30218577 [T/G] rs7667202 4 30224009 [A/G] rs3113774 4 30231510 [T/C] rs4692446 4 30243958 [T/G] rs11943105 4 30283576 [A/G] rs3857027 4 30283750 [A/G] rs16883227 4 30286607 [T/C] rs1435779 4 30313458 [A/G] rs7675877 4 30328911 [A/G] rs7661846 4 30334017 [A/G] rs16883353 4 30346867 [T/C] rs7655653 4 30363282 [A/G] rs7698788 4 30371605 [T/C] rs1435782 4 30397570 [A/G] exm2265683 4 30407029 [A/G] rs1435787 4 30407029 [A/G] rs3846269 4 30412195 [T/C] rs12503525 4 30416966 [T/C] rs6818540 4 30427517 [A/G] rs16883487 4 30431038 [T/C] rs2871445 4 30431211 [A/C] rs6448707 4 30431573 [T/C] rs9291540 4 30437096 [T/C] rs6841092 4 30439397 [T/C] rs7700123 4 30455876 [A/G] rs16883593 4 30460011 [A/G] rs1896180 4 30467623 [T/C] rs6856768 4 30468166 [A/G] rs1473094 4 30476154 [T/C] rs4692459 4 30478873 [A/G] rs1553923 4 30484155 [A/C] rs9291543 4 30490490 [T/C] rs1588610 4 30508931 [A/G] rs13147511 4 30510223 [T/C] rs10049961 4 30534141 [T/C] rs1588614 4 30535299 [T/C] rs6846798 4 30536779 [T/C] rs11727470 4 30544014 [A/G] rs1398181 4 30559836 [A/G] rs7678701 4 30560475 [A/G] rs7682155 4 30572878 [A/G] rs6847353 4 30574424 [T/C] rs10028403 4 30575592 [T/G] rs7687443 4 30579183 [A/G] rs7690439 4 30591791 [T/C] rs9994236 4 30599882 [A/G] rs10939307 4 30610801 [A/G] rs13115431 4 30613111 [T/C] rs12511839 4 30625276 [A/G] rs767478 4 30630382 [A/G] rs1906110 4 30633334 [T/C] rs4692473 4 30633835 [A/C] rs13115999 4 30641018 [T/C] rs6821889 4 30645986 [T/C] rs6848945 4 30649819 [T/C] rs6820780 4 30658535 [A/G] rs13146789 4 30668535 [T/G] rs7654222 4 30669244 [T/C] rs747606 4 30669328 [T/C] rs4692481 4 30691142 [T/G] exm393609 4 30723174 [T/G] NM_032456,NM_032457,NM_001173523,NM_002589 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_A44S,Missense_A44S,Missense_A44S,Missense_A44S exm393625 4 30724018 [T/C] NM_032456,NM_032457,NM_001173523,NM_002589 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_T325I,Missense_T325I,Missense_T325I,Missense_T325I exm393646 4 30724586 [A/C] NM_032456,NM_032457,NM_001173523,NM_002589 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_S514R,Missense_S514R,Missense_S514R,Missense_S514R exm393647 4 30724609 [T/C] NM_032456,NM_032457,NM_001173523,NM_002589 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_I522T,Missense_I522T,Missense_I522T,Missense_I522T newrs141363155 4 30724856 [A/G] NM_032456,NM_032457,NM_001173523,NM_002589 PCDH7,PCDH7,PCDH7,PCDH7 EXON Synonymous_R604R,Synonymous_R604R,Synonymous_R604R,Synonymous_R604R exm393661 4 30724857 [T/C] NM_032456,NM_032457,NM_001173523,NM_002589 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_Y605H,Missense_Y605H,Missense_Y605H,Missense_Y605H exm393674 4 30725272 [T/C] NM_032456,NM_032457,NM_001173523,NM_002589 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_T743I,Missense_T743I,Missense_T743I,Missense_T743I exm393678 4 30725496 [T/G] NM_032456,NM_032457,NM_001173523,NM_002589 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_V818L,Missense_V818L,Missense_V818L,Missense_V818L exm393680 4 30725539 [T/C] NM_032456,NM_032457,NM_001173523,NM_002589 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_T832M,Missense_T832M,Missense_T832M,Missense_T832M exm393688 4 30725734 [T/C] NM_032456,NM_032457,NM_001173523,NM_002589 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_I897T,Missense_I897T,Missense_I897T,Missense_I897T exm393689 4 30725755 [A/G] NM_032456,NM_032457,NM_001173523,NM_002589 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_C904Y,Missense_C904Y,Missense_C904Y,Missense_C904Y exm393705 4 30726045 [T/C] NM_032456,NM_032457,NM_001173523,NM_002589 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_P1001S,Missense_P1001S,Missense_P1001S,Missense_P1001S exm393710 4 30726226 [A/G] NM_032456,NM_032457,NM_001173523,NM_002589 PCDH7,PCDH7,PCDH7,PCDH7 EXON Missense_C1061Y,Silent,Silent,Silent rs28420079 4 30737146 [T/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs10003467 4 30752187 [T/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs4380480 4 30767675 [T/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs2121659 4 30785307 [A/G] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs4557224 4 30796107 [T/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs1348923 4 30810421 [T/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs4619848 4 30827805 [T/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs1447373 4 30832836 [A/G] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs13140818 4 30837989 [A/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs6816969 4 30845667 [T/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs13150968 4 30864486 [A/G] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs4422383 4 30872098 [A/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs11937211 4 30893493 [T/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent exm393722 4 30921913 [T/G] NM_032457,NM_001173523 PCDH7,PCDH7 EXON Missense_A1105S,Missense_A1105S rs11735048 4 30922078 [A/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs4293757 4 30943209 [A/G] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs12508739 4 30947714 [A/G] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs7659873 4 30970763 [A/G] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs10027212 4 30976208 [T/G] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs6847898 4 30984320 [T/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs7696734 4 30987395 [T/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs13102223 4 30991363 [T/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs10004523 4 30992250 [A/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs6832127 4 30996285 [T/G] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs4692497 4 31005966 [A/G] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent exm2269911 4 31012310 [T/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs7696101 4 31016990 [A/G] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs10939326 4 31025354 [A/G] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs6837499 4 31037602 [A/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs7661111 4 31059015 [A/G] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs3947332 4 31080447 [A/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs2221128 4 31095678 [A/G] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs9999226 4 31095854 [A/G] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs10010739 4 31104796 [T/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs11935515 4 31110337 [A/G] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs1392057 4 31123849 [A/G] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs10517226 4 31129958 [T/C] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent rs12507539 4 31135624 [A/G] NM_032457,NM_001173523 PCDH7,PCDH7 Silent,Silent exm393731 4 31144187 [T/C] NM_032457,NM_001173523 PCDH7,PCDH7 EXON Missense_R1154C,Missense_R1162C exm393737 4 31144294 [C/G] NM_032457,NM_001173523 PCDH7,PCDH7 EXON Missense_M1189I,Missense_M1197I exm393739 4 31144386 [A/G] NM_032457,NM_001173523 PCDH7,PCDH7 EXON Missense_N1220S,Missense_N1228S indel.80510 4 31144414 [I/D] NM_032457,NM_001173523 PCDH7,PCDH7 EXON exm2256576 4 31147272 [A/C] NM_032457,NM_001173523 PCDH7,PCDH7 EXON Silent,Silent rs16884471 4 31150900 [A/C] rs16884473 4 31151060 [T/C] rs1463844 4 31157943 [A/C] rs1353854 4 31158565 [T/C] rs13340304 4 31162659 [A/G] rs6448753 4 31183845 [A/G] rs2036247 4 31187185 [T/C] rs6448754 4 31196514 [T/C] rs11930062 4 31200828 [A/G] rs6849452 4 31216675 [A/G] rs6821356 4 31219796 [T/C] rs6820490 4 31230228 [A/G] rs1392056 4 31235824 [T/C] rs10002340 4 31249967 [A/C] rs6811209 4 31262043 [T/C] rs6815632 4 31277116 [A/G] rs4441721 4 31302011 [A/G] rs9291566 4 31306116 [A/G] rs11935585 4 31316264 [A/C] rs4303942 4 31319406 [A/G] rs10029975 4 31324283 [A/C] rs10025805 4 31333616 [T/C] rs6820923 4 31334007 [T/G] rs13135059 4 31339067 [A/G] rs1426985 4 31341384 [A/C] rs6827566 4 31343877 [A/G] rs4692508 4 31354090 [A/C] rs933954 4 31357836 [T/G] rs2081665 4 31360789 [T/C] rs10017667 4 31365792 [A/C] rs7677024 4 31367687 [A/G] rs10000543 4 31370788 [T/C] rs1834709 4 31377722 [A/G] rs13140921 4 31382580 [A/G] rs6448771 4 31397618 [A/G] rs7689511 4 31405546 [T/C] rs7700198 4 31413759 [A/G] rs9684021 4 31415607 [T/C] rs1966546 4 31427408 [T/C] rs454864 4 31447488 [A/G] rs424917 4 31456071 [A/G] exm2261701 4 31461728 [A/G] rs404532 4 31461728 [A/G] rs16885247 4 31474310 [A/G] rs446149 4 31490705 [A/G] rs452052 4 31494159 [A/G] rs6448778 4 31513263 [A/C] rs10805304 4 31525698 [A/C] rs1598684 4 31531497 [T/C] rs1379127 4 31559379 [T/C] rs6830965 4 31598534 [A/G] rs10428460 4 31599070 [A/C] rs6813009 4 31611630 [T/G] exm2265684 4 31627136 [A/G] rs1510801 4 31636008 [A/G] rs9992305 4 31643126 [A/C] rs11944702 4 31660739 [T/C] rs1510806 4 31661814 [T/G] rs6831283 4 31684540 [T/C] rs16885694 4 31700291 [T/G] rs13133369 4 31712529 [T/C] rs16885723 4 31715825 [A/C] rs10489008 4 31718284 [A/C] rs1157893 4 31744052 [A/G] rs13136356 4 31758426 [T/C] rs7682874 4 31770464 [A/G] rs988466 4 31784698 [T/G] rs13134705 4 31808700 [T/C] rs28493679 4 31811755 [T/C] rs6553979 4 31849408 [A/G] rs13144359 4 31872574 [T/C] rs10007812 4 31893113 [A/G] rs6813096 4 31895086 [A/G] rs10006001 4 31901631 [T/G] rs10027346 4 31909356 [A/G] rs7694314 4 31927635 [T/C] rs7690576 4 31930676 [A/G] rs10517232 4 31935746 [T/C] rs1581453 4 31948000 [T/C] rs1523171 4 31950589 [A/C] rs7683244 4 31966758 [T/G] rs1879999 4 31987807 [T/C] rs7678075 4 31991952 [A/G] rs1403531 4 31996147 [T/C] rs17806054 4 32004256 [T/C] rs6553983 4 32005439 [T/C] rs10016652 4 32020581 [T/C] rs4502723 4 32051793 [T/G] rs6816357 4 32071464 [A/G] rs10017595 4 32114385 [A/G] rs6554007 4 32125671 [T/G] rs10011864 4 32143073 [A/G] rs13131255 4 32162911 [A/C] rs4862911 4 32186096 [T/C] rs17080898 4 32194941 [A/G] rs17080902 4 32196347 [A/C] rs12509554 4 32201551 [T/G] rs1388281 4 32206490 [A/G] rs4565120 4 32209922 [T/C] rs1417055 4 32226350 [A/G] rs17080946 4 32227281 [T/C] rs731196 4 32244696 [T/C] rs4596286 4 32252137 [A/G] rs766436 4 32259822 [T/C] exm2265685 4 32260388 [A/G] rs1670754 4 32264997 [A/G] exm2265827 4 32268382 [A/G] rs11734603 4 32268382 [A/G] rs923669 4 32270703 [A/G] rs1472088 4 32273315 [A/G] rs11133199 4 32292534 [A/G] rs2404930 4 32304898 [T/G] rs1116083 4 32307437 [T/C] rs902654 4 32315731 [A/G] rs13119336 4 32318535 [A/G] rs1377892 4 32323374 [T/C] rs2897006 4 32329911 [A/G] rs763366 4 32356997 [A/G] rs9654325 4 32368307 [T/G] rs1377896 4 32373939 [A/C] rs1349859 4 32380665 [A/G] rs9998298 4 32381251 [T/C] rs1454310 4 32398607 [A/G] rs6854744 4 32419013 [A/G] rs10015890 4 32429986 [T/G] rs12503381 4 32435842 [T/G] rs11133215 4 32437731 [A/C] rs10007799 4 32446724 [A/G] rs4862928 4 32449832 [T/C] rs10007938 4 32452973 [A/G] rs11930703 4 32473028 [A/G] rs4862932 4 32477273 [T/C] rs4298181 4 32481587 [A/C] rs17081424 4 32495165 [A/G] rs11732748 4 32496303 [T/G] rs10461348 4 32498066 [A/G] exm2264051 4 32501462 [A/C] rs961422 4 32501462 [A/C] rs1584155 4 32509904 [A/G] rs6554028 4 32515265 [T/G] rs7657618 4 32521580 [T/C] rs12500172 4 32527996 [T/C] rs11944364 4 32530706 [T/C] rs7680003 4 32577729 [T/C] rs7695359 4 32577958 [T/C] rs11735577 4 32580240 [A/G] rs1822927 4 32588326 [T/C] rs1037079 4 32590048 [T/C] rs11947379 4 32596378 [A/G] rs1348664 4 32609134 [A/C] rs4862943 4 32623768 [A/G] rs6840469 4 32626153 [A/C] rs755773 4 32628884 [T/C] rs9884918 4 32633208 [T/C] rs11133230 4 32640520 [A/G] rs6826047 4 32662406 [A/G] rs6554041 4 32682680 [T/C] rs6812552 4 32686781 [T/C] rs4547836 4 32688362 [T/C] rs10025667 4 32695806 [T/C] rs4862896 4 32707959 [T/C] rs4353947 4 32729725 [A/G] rs6814336 4 32738289 [A/C] rs6825168 4 32762981 [A/G] rs4130313 4 32773352 [A/G] rs11940854 4 32793497 [T/C] rs4340831 4 32798521 [T/C] rs7663866 4 32801473 [A/G] rs13110509 4 32813842 [A/G] rs7665163 4 32823936 [T/C] rs7438388 4 32851818 [A/G] rs7439281 4 32862457 [A/G] rs12651213 4 32866929 [A/G] rs9993494 4 32877827 [T/G] rs13123433 4 32902806 [T/G] rs7659735 4 32931940 [T/G] rs6827177 4 32932415 [T/C] rs7438285 4 32952490 [A/G] exm2265828 4 32962030 [A/G] rs7437969 4 32988370 [T/C] rs16988491 4 32996575 [A/G] rs6816693 4 32999592 [A/C] rs1448280 4 33000930 [T/C] rs1349084 4 33030781 [A/G] rs6857336 4 33034172 [A/G] rs6531329 4 33035544 [T/C] kgp10888382 4 33046633 [A/C] rs16988606 4 33098368 [T/C] kgp42462 4 33105845 [T/G] rs10856819 4 33191579 [T/C] exm2269736 4 33200295 [T/C] rs10517270 4 33203140 [A/G] rs7680581 4 33206192 [A/G] rs7695326 4 33217636 [A/C] rs2586009 4 33235506 [T/C] rs2687463 4 33240041 [A/G] rs2585909 4 33247495 [T/C] rs6814031 4 33274438 [T/C] rs2687386 4 33288145 [A/C] rs3098933 4 33309890 [A/C] rs883617 4 33318082 [A/G] rs11722181 4 33354946 [A/C] rs12647606 4 33398105 [T/C] rs12643899 4 33398387 [T/G] rs7665332 4 33487061 [A/G] kgp10342059 4 33523151 [A/G] kgp21155238 4 33523164 [A/G] rs10517282 4 33545170 [A/G] rs1598194 4 33599429 [T/C] rs1454609 4 33616414 [A/C] rs717947 4 33653757 [T/C] rs16989144 4 33657798 [T/C] rs1902083 4 33695359 [T/G] rs6847997 4 33700983 [A/C] rs9997046 4 33726506 [A/G] rs13111438 4 33745441 [T/C] rs7684329 4 33747424 [T/C] exm2269912 4 33762750 [T/C] rs13104973 4 33810391 [A/C] rs17353301 4 33812889 [A/G] rs6835901 4 33814838 [T/C] rs6531287 4 33879862 [A/G] rs13120249 4 33910151 [A/G] exm2269737 4 33953964 [T/C] kgp2776056 4 33954259 [T/C] rs10004776 4 34012943 [T/C] rs13106616 4 34043420 [A/G] rs6844408 4 34069989 [T/C] rs13149553 4 34110314 [T/C] rs7439164 4 34129758 [A/C] rs7654957 4 34149964 [T/C] rs10034465 4 34195504 [A/G] rs6531299 4 34195693 [T/C] kgp4881124 4 34198285 [T/C] kgp8865825 4 34203862 [T/G] rs16989413 4 34323177 [T/C] rs1425502 4 34348739 [A/G] rs4859319 4 34370370 [A/G] rs7665973 4 34397464 [T/C] rs2217013 4 34415056 [A/G] rs6855693 4 34451311 [A/G] rs1480978 4 34466283 [T/C] rs16989731 4 34473606 [A/C] rs10011680 4 34478767 [T/G] rs10019000 4 34488990 [T/C] rs1904897 4 34492968 [A/G] rs6817183 4 34498265 [A/C] rs6858830 4 34500856 [A/G] rs10004976 4 34510322 [A/G] rs10024915 4 34526858 [A/G] rs7693554 4 34529796 [A/G] rs1380341 4 34534283 [T/C] rs16989950 4 34541266 [T/C] rs13140884 4 34542371 [T/C] rs6829919 4 34557595 [A/C] rs4521368 4 34582188 [T/C] rs10023150 4 34595824 [T/C] rs6846061 4 34607713 [A/G] rs2054575 4 34618584 [A/G] rs1599110 4 34642826 [T/C] rs11935755 4 34686182 [A/G] rs13119900 4 34693304 [A/G] rs16990230 4 34726596 [T/C] rs13434494 4 34731172 [T/C] rs10012250 4 34763475 [A/G] rs6855391 4 34772226 [T/C] rs7678322 4 34831143 [T/C] rs9884148 4 34846207 [T/C] rs10021358 4 34863594 [T/C] rs1706212 4 34869949 [A/G] rs2668134 4 34871955 [T/C] rs1912842 4 34872926 [A/C] rs1617678 4 34883393 [A/G] exm-rs17390445 4 34893855 [A/G] rs10006196 4 34913541 [T/C] rs11736165 4 34917769 [A/G] exm2265687 4 34924357 [A/G] rs13137372 4 34928521 [T/C] rs2370151 4 34941651 [T/C] rs11729074 4 34955378 [T/C] rs16990538 4 34963574 [A/C] rs996913 4 34968968 [T/C] rs921853 4 34984841 [T/C] rs1350117 4 34990357 [A/G] rs16990620 4 34992661 [A/G] rs6839051 4 35026277 [A/C] rs4519816 4 35054077 [A/G] rs7689990 4 35066604 [T/G] rs7689165 4 35079586 [A/G] rs7655946 4 35098359 [T/C] rs11930548 4 35104571 [T/C] rs1480976 4 35113694 [T/G] rs11943039 4 35119704 [T/C] rs7660410 4 35126537 [T/C] rs6823854 4 35128162 [A/G] rs1023933 4 35149660 [A/C] rs1994012 4 35156806 [T/G] rs4629470 4 35166363 [T/C] rs1383561 4 35166628 [A/C] rs1480967 4 35168725 [T/C] rs1600683 4 35175065 [T/C] rs2127853 4 35175249 [T/C] rs2127850 4 35195922 [T/C] rs3937773 4 35214648 [T/C] rs6531347 4 35218959 [T/C] rs7691687 4 35224530 [T/C] rs7687153 4 35226451 [T/C] rs6816663 4 35235185 [T/G] rs10016775 4 35236015 [A/G] rs13117747 4 35237089 [A/G] rs7686175 4 35248847 [A/G] rs10032114 4 35264817 [A/G] rs9306924 4 35269594 [T/C] rs16990885 4 35277250 [A/G] rs6837097 4 35295899 [T/C] rs10021051 4 35319420 [T/C] rs9999521 4 35328365 [A/C] rs4859348 4 35331719 [A/G] rs13143446 4 35333439 [T/G] rs7662185 4 35348509 [A/C] rs2028445 4 35349031 [T/C] rs1372156 4 35360452 [A/C] exm-rs437943 4 35372098 [T/C] rs16991064 4 35393192 [A/G] rs12642609 4 35401416 [A/G] rs317014 4 35404286 [A/G] exm-rs1533317 4 35410631 [T/C] rs317027 4 35425629 [T/C] rs3098733 4 35426994 [T/C] rs16991102 4 35429711 [T/C] rs317042 4 35437344 [T/C] rs4859360 4 35468984 [T/C] rs1022261 4 35476300 [A/C] rs6841237 4 35506681 [T/C] rs7694691 4 35528798 [T/C] rs10517352 4 35554589 [T/G] rs11936942 4 35583122 [A/C] rs2162098 4 35595493 [A/G] rs7667040 4 35604709 [A/G] rs6836342 4 35618590 [T/C] exm2256588 4 35653192 [T/G] rs12640371 4 35668267 [A/C] rs10517350 4 35673557 [T/C] rs6531383 4 35676909 [T/C] rs11933413 4 35696434 [A/G] rs2375563 4 35698696 [T/C] rs1596577 4 35724618 [A/G] rs1822676 4 35726689 [A/C] rs986240 4 35739721 [T/G] rs11731044 4 35740465 [A/G] rs5011112 4 35751033 [T/C] rs2889115 4 35765765 [A/G] rs11947034 4 35772231 [A/C] rs11096782 4 35790610 [A/G] rs1867476 4 35801429 [T/G] rs12641153 4 35803591 [T/C] rs6854185 4 35806331 [A/G] rs6849048 4 35808971 [T/C] rs1020337 4 35814521 [A/C] rs1368610 4 35846086 [A/G] rs16988240 4 35870854 [A/G] rs1465712 4 35873240 [A/G] rs16991635 4 35884368 [A/G] rs10470868 4 35892598 [T/C] rs2005025 4 35903310 [T/C] rs753921 4 35903499 [T/C] rs753920 4 35903624 [T/C] rs1714034 4 35908009 [A/G] rs1655058 4 35911736 [T/C] rs11734481 4 35912580 [A/G] rs1030700 4 35912892 [A/G] rs1836080 4 35916584 [T/C] rs4001124 4 35921123 [A/G] rs16991684 4 35926948 [A/G] rs4832855 4 35930651 [T/C] rs7668984 4 35930794 [T/C] rs7677061 4 35933237 [T/C] rs1433439 4 35934885 [A/G] rs1714084 4 35943816 [A/G] rs1622680 4 35976738 [T/C] rs9992603 4 35992101 [A/G] rs12502892 4 35995064 [T/G] rs13111222 4 36005220 [A/C] rs1510656 4 36006393 [T/C] rs10010285 4 36011362 [T/C] rs2889174 4 36013141 [T/C] rs2175322 4 36015016 [A/G] rs1510653 4 36015133 [T/C] rs11096796 4 36031082 [A/G] rs6812127 4 36046629 [T/C] exm2261707 4 36048773 [A/G] rs11947828 4 36059603 [T/C] rs13152028 4 36060318 [T/G] rs2271810 4 36068286 [A/G] NM_015230 ARAP2 EXON Silent exm393747 4 36069541 [A/C] NM_015230 ARAP2 EXON Missense_Q1701H exm393748 4 36069552 [T/G] NM_015230 ARAP2 EXON Missense_Q1698K exm393755 4 36069752 [T/C] NM_015230 ARAP2 EXON Missense_R1631Q exm393756 4 36069767 [T/C] NM_015230 ARAP2 EXON Missense_R1626Q exm393769 4 36075373 [T/C] NM_015230 ARAP2 EXON Missense_G1561S exm393777 4 36081878 [T/C] NM_015230 ARAP2 EXON Missense_R1523Q exm393778 4 36083895 [T/C] NM_015230 ARAP2 EXON Missense_A1508T rs7670868 4 36085412 [A/G] NM_015230 ARAP2 Silent exm393787 4 36093517 [A/G] NM_015230 ARAP2 EXON Missense_Y1471H exm2073437 4 36093553 [A/G] NM_015230 ARAP2 EXON Missense_R1459W exm393790 4 36093639 [T/C] NM_015230 ARAP2 EXON Missense_R1430Q rs13110947 4 36101738 [A/C] NM_015230 ARAP2 Silent exm393805 4 36118684 [T/C] NM_015230 ARAP2 EXON Missense_R1346Q exm393806 4 36118685 [A/G] NM_015230 ARAP2 EXON Missense_R1346W exm2073446 4 36118703 [T/C] NM_015230 ARAP2 EXON Missense_D1340N rs4833107 4 36119788 [T/C] NM_015230 ARAP2 Silent indel.80512 4 36122911 [D/I] NM_015230 ARAP2 EXON exm393822 4 36126541 [T/C] NM_015230 ARAP2 EXON Missense_R1230H exm393823 4 36126568 [A/C] NM_015230 ARAP2 EXON Missense_R1221I rs1355331 4 36127176 [T/C] NM_015230 ARAP2 Silent exm393832 4 36130292 [T/G] NM_015230 ARAP2 EXON Missense_K1168T exm393833 4 36130316 [T/C] NM_015230 ARAP2 EXON Missense_S1160N exm2240938 4 36130336 [A/C] NM_015230 ARAP2 EXON Missense_N1153K exm393839 4 36134940 [C/G] NM_015230 ARAP2 EXON Missense_G1112A variant.80513 4 36135013 [T/C] NM_015230 ARAP2 Silent rs7696339 4 36141187 [T/C] NM_015230 ARAP2 Silent exm393854 4 36149353 [A/G] NM_015230 ARAP2 EXON Missense_F1006L exm2073469 4 36150091 [T/C] NM_015230 ARAP2 EXON Missense_R979H exm393861 4 36152535 [A/G] NM_015230 ARAP2 EXON Missense_Y962H exm2240939 4 36152588 [T/C] NM_015230 ARAP2 EXON Missense_G944D exm393866 4 36152592 [T/G] NM_015230 ARAP2 EXON Missense_N943H rs17516600 4 36153128 [T/C] NM_015230 ARAP2 Silent rs13109154 4 36156910 [T/C] NM_015230 ARAP2 Silent exm393874 4 36160432 [T/G] NM_015230 ARAP2 EXON Missense_Q891P exm393875 4 36160441 [T/A] NM_015230 ARAP2 EXON Missense_E888V variant.80515 4 36160948 [T/C] NM_015230 ARAP2 Silent indel.80516 4 36161078 [I/D] NM_015230 ARAP2 EXON rs2271330 4 36162923 [A/G] NM_015230 ARAP2 Silent exm393894 4 36163089 [C/G] NM_015230 ARAP2 EXON Missense_E753Q exm393902 4 36166629 [T/C] NM_015230 ARAP2 EXON Missense_N694D exm393904 4 36166659 [T/C] NM_015230 ARAP2 EXON Missense_D684N exm393912 4 36168602 [T/C] NM_015230 ARAP2 EXON Missense_R642Q exm2073505 4 36179535 [A/G] NM_015230 ARAP2 EXON Missense_C591R exm393916 4 36179546 [A/G] NM_015230 ARAP2 EXON Missense_T587I exm393927 4 36195264 [T/C] NM_015230 ARAP2 EXON Missense_R498H exm393928 4 36195265 [A/G] NM_015230 ARAP2 EXON Missense_R498C exm393930 4 36212049 [A/C] NM_015230 ARAP2 EXON Missense_V484F exm393939 4 36212163 [T/C] NM_015230 ARAP2 EXON Missense_V446I exm393941 4 36212303 [T/C] NM_015230 ARAP2 EXON Missense_R399Q exm393943 4 36212347 [A/C] NM_015230 ARAP2 EXON Missense_K384N rs6836152 4 36213761 [T/C] NM_015230 ARAP2 Silent variant.80517 4 36214013 [T/C] NM_015230 ARAP2 Silent rs4472157 4 36220072 [A/C] NM_015230 ARAP2 Silent exm393964 4 36230300 [T/C] NM_015230 ARAP2 EXON Missense_S270N exm393971 4 36230585 [T/C] NM_015230 ARAP2 EXON Missense_N175S exm393972 4 36230607 [A/C] NM_015230 ARAP2 EXON Missense_D168Y exm393973 4 36230634 [A/G] NM_015230 ARAP2 EXON Missense_P159S exm393974 4 36230658 [A/G] NM_015230 ARAP2 EXON Missense_R151C exm393978 4 36230761 [G/C] NM_015230 ARAP2 EXON Missense_S116R indel.80518 4 36230839 [D/I] NM_015230 ARAP2 EXON exm393986 4 36230843 [A/G] NM_015230 ARAP2 EXON Missense_P89L exm393992 4 36231081 [T/C] NM_015230 ARAP2 EXON Missense_D10N rs13103714 4 36250842 [A/G] rs6821079 4 36273293 [A/G] exm393996 4 36285777 [A/G] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_G26R exm393998 4 36286015 [A/C] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_E105A exm394002 4 36292018 [T/A] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_V179D exm394011 4 36292326 [T/G] NR_073198,NM_001170700 DTHD1,DTHD1 Silent,Silent rs12498924 4 36293143 [A/G] NR_073198,NM_001170700 DTHD1,DTHD1 Silent,Silent variant.80522 4 36296661 [A/G] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_R423Q exm394028 4 36310049 [T/C] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_R552C variant.80523 4 36310064 [T/C] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Nonsense_R557X exm394030 4 36310065 [A/G] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_R557Q exm394034 4 36317965 [T/C] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_Y608H rs9995922 4 36317970 [T/C] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Synonymous_S609S rs13131463 4 36323014 [T/C] NR_073198,NM_001170700 DTHD1,DTHD1 Silent,Silent rs7684936 4 36330976 [A/G] NR_073198,NM_001170700 DTHD1,DTHD1 Silent,Silent rs16992086 4 36334157 [T/C] NR_073198,NM_001170700 DTHD1,DTHD1 Silent,Silent rs12508637 4 36334295 [A/G] NR_073198,NM_001170700 DTHD1,DTHD1 Silent,Silent exm394039 4 36340753 [A/G] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_R662H exm394040 4 36340755 [A/C] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_P663T rs11936656 4 36341751 [T/C] NR_073198,NM_001170700 DTHD1,DTHD1 Silent,Silent newrs149895631 4 36345134 [A/G] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Nonsense_W678X exm394045 4 36345345 [A/C] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_R749S exm2240947 4 36345346 [A/G] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Missense_R749H rs2270880 4 36345377 [A/G] NR_073198,NM_001170700 DTHD1,DTHD1 EXON Silent,Synonymous_E759E rs16992136 4 36350375 [A/G] rs1392891 4 36354203 [T/C] rs7671923 4 36356690 [A/G] rs4833132 4 36363694 [T/C] rs16992175 4 36366711 [T/C] rs6857376 4 36369934 [T/C] rs1501114 4 36387599 [A/G] rs10003626 4 36396090 [T/G] rs949807 4 36398436 [A/G] exm2265688 4 36398436 [A/G] rs924536 4 36405777 [T/C] rs4629469 4 36419047 [A/G] rs3925092 4 36419298 [A/G] rs6855055 4 36429725 [A/G] rs9884802 4 36447541 [T/C] rs3949 4 36451424 [T/C] rs4355409 4 36454804 [A/G] rs4131542 4 36460981 [A/C] rs10001470 4 36461320 [A/G] rs7662602 4 36464948 [A/G] rs13112410 4 36468162 [T/C] rs3922552 4 36470307 [A/G] rs4240253 4 36475328 [A/G] rs13128058 4 36517634 [T/C] rs6829630 4 36531423 [A/G] rs12507648 4 36546041 [A/C] rs7675488 4 36547345 [T/C] rs11936311 4 36572626 [T/C] rs7675733 4 36597275 [T/C] rs6814457 4 36603313 [A/C] rs4576003 4 36620780 [A/G] exm2269740 4 36624280 [T/C] rs6820169 4 36637447 [A/G] rs2375997 4 36643076 [A/G] rs16992544 4 36650196 [T/C] rs17465676 4 36656080 [T/G] rs4146579 4 36656412 [A/G] rs2259467 4 36665729 [A/G] rs4610347 4 36671810 [T/C] rs2376150 4 36684936 [A/G] rs6842982 4 36692005 [A/G] rs10517382 4 36699959 [A/G] rs16992596 4 36724296 [T/C] rs12511017 4 36742625 [A/G] rs12650943 4 36756697 [T/C] rs6849430 4 36787860 [A/G] rs1114364 4 36792676 [A/G] rs1380425 4 36814622 [T/C] exm2261708 4 36823862 [A/C] rs1370459 4 36837111 [A/G] rs6531484 4 36844337 [T/C] rs1870504 4 36847609 [A/G] rs6856563 4 36848556 [T/C] rs16992742 4 36851751 [A/G] rs1459680 4 36869719 [T/C] rs7660024 4 36880769 [T/C] rs6817693 4 36890895 [T/G] rs6838632 4 36907301 [T/C] rs11096840 4 36915898 [T/C] rs6531493 4 36916955 [T/G] rs12511779 4 36930054 [A/C] rs1373474 4 36931370 [T/C] rs4832844 4 36948351 [A/G] rs1020808 4 36949073 [A/G] rs1584108 4 36960436 [A/G] rs1545689 4 36968604 [A/C] rs1444310 4 36979771 [A/G] rs2166094 4 36982008 [A/G] rs2044294 4 36991491 [T/C] rs11096855 4 36994638 [A/C] rs2588548 4 36998478 [T/C] rs11727558 4 37002025 [T/C] rs17289939 4 37036317 [A/C] rs9999604 4 37040171 [A/G] rs2376322 4 37044712 [T/C] exm-rs13117816 4 37064331 [T/G] rs6825814 4 37067592 [T/C] rs1951774 4 37072029 [A/C] rs10484209 4 37074040 [T/C] rs10484210 4 37075996 [A/G] rs1426414 4 37085237 [A/C] rs4289452 4 37091905 [T/G] rs11733992 4 37098598 [A/G] rs6829105 4 37103580 [A/G] rs2376183 4 37109848 [A/G] rs12500588 4 37111552 [A/G] rs1972697 4 37126314 [T/G] rs4832877 4 37139301 [A/C] rs4832726 4 37140039 [T/C] rs725292 4 37143147 [T/C] rs10484216 4 37156548 [T/C] rs2376241 4 37163951 [T/G] rs12510063 4 37173484 [T/C] rs17529 4 37175719 [T/C] rs1627800 4 37184279 [A/C] rs1426401 4 37198777 [T/C] rs1418876 4 37207259 [A/G] rs11937850 4 37210649 [A/G] rs16993352 4 37232282 [T/C] rs1023730 4 37240580 [T/G] rs7669853 4 37251630 [T/C] NM_001144990 KIAA1239 Silent rs17603438 4 37253250 [A/G] NM_001144990 KIAA1239 Silent rs6531521 4 37258713 [T/C] NM_001144990 KIAA1239 Silent rs3910363 4 37264831 [A/G] NM_001144990 KIAA1239 Silent rs1435378 4 37269105 [T/C] NM_001144990 KIAA1239 Silent rs1776560 4 37285195 [A/G] NM_001144990 KIAA1239 Silent exm2256592 4 37291336 [A/G] NM_001144990 KIAA1239 Silent rs13115793 4 37302992 [A/G] NM_001144990 KIAA1239 Silent rs1627193 4 37310608 [T/C] NM_001144990 KIAA1239 Silent rs1656216 4 37319167 [A/G] NM_001144990 KIAA1239 Silent rs1435389 4 37319418 [A/G] NM_001144990 KIAA1239 Silent rs17603641 4 37328396 [A/G] NM_001144990 KIAA1239 Silent rs936595 4 37330939 [A/G] NM_001144990 KIAA1239 Silent rs7679428 4 37331417 [A/G] NM_001144990 KIAA1239 Silent rs12649785 4 37335699 [A/C] NM_001144990 KIAA1239 Silent rs13340226 4 37342620 [A/G] NM_001144990 KIAA1239 Silent rs13120150 4 37349537 [A/G] NM_001144990 KIAA1239 Silent rs1002363 4 37357559 [A/G] NM_001144990 KIAA1239 Silent rs4264838 4 37369765 [A/G] NM_001144990 KIAA1239 Silent rs6823583 4 37374046 [A/G] NM_001144990 KIAA1239 Silent rs10013737 4 37391031 [A/G] NM_001144990 KIAA1239 Silent rs10013774 4 37393292 [A/G] NM_001144990 KIAA1239 Silent rs17421729 4 37395148 [A/G] NM_001144990 KIAA1239 Silent rs6531533 4 37395513 [A/G] NM_001144990 KIAA1239 Silent rs10028027 4 37400306 [T/C] NM_001144990 KIAA1239 Silent rs1105930 4 37403481 [A/G] NM_001144990 KIAA1239 Silent rs10016142 4 37406051 [T/C] NM_001144990 KIAA1239 Silent rs4586959 4 37417390 [A/G] NM_001144990 KIAA1239 Silent rs10856831 4 37427661 [A/G] NM_001144990 KIAA1239 Silent exm394054 4 37432261 [T/C] NM_001144990 KIAA1239 EXON Missense_M142T rs2973217 4 37432416 [A/C] NM_001144990 KIAA1239 Silent exm394061 4 37440516 [A/G] NM_001144990 KIAA1239 EXON Missense_E267G exm394069 4 37444961 [A/G] NM_001144990 KIAA1239 EXON Missense_V451M exm394074 4 37445144 [A/G] NM_001144990 KIAA1239 EXON Missense_I512V exm394077 4 37445315 [A/C] NM_001144990 KIAA1239 EXON Missense_L569M exm394095 4 37445868 [A/G] NM_001144990 KIAA1239 EXON Missense_R753H exm394118 4 37447211 [G/C] NM_001144990 KIAA1239 EXON Missense_Q1201E exm394135 4 37448157 [A/G] NM_001144990 KIAA1239 EXON Missense_R1516H exm394136 4 37448297 [A/G] NM_001144990 KIAA1239 EXON Missense_A1563T rs936588 4 37449086 [A/G] NM_001144990 KIAA1239 EXON Silent rs10020323 4 37449803 [A/G] NM_001144990 KIAA1239 EXON Silent rs1479765 4 37463593 [T/C] NM_001104629 C4orf19 Silent rs2928304 4 37466250 [T/C] NM_001104629 C4orf19 Silent rs2928307 4 37469174 [A/G] NM_001104629 C4orf19 Silent rs11096877 4 37470428 [T/C] NM_001104629 C4orf19 Silent rs10517414 4 37471031 [A/C] NM_001104629 C4orf19 Silent rs1382984 4 37476233 [T/C] NM_001104629 C4orf19 Silent rs2928311 4 37481131 [T/C] NM_001104629 C4orf19 Silent rs1552021 4 37491386 [T/C] NM_001104629 C4orf19 Silent rs2973255 4 37503658 [T/C] NM_001104629 C4orf19 Silent rs2973271 4 37513594 [T/G] NM_001104629 C4orf19 Silent rs2380727 4 37524958 [T/C] NM_001104629 C4orf19 Silent rs2973296 4 37526213 [A/G] NM_001104629 C4orf19 Silent rs2939712 4 37526293 [T/C] NM_001104629 C4orf19 Silent rs2380734 4 37527529 [A/G] NM_001104629 C4orf19 Silent rs17604934 4 37542764 [T/C] NM_001104629 C4orf19 Silent rs2939739 4 37548617 [A/G] NM_001104629 C4orf19 Silent rs2939720 4 37559226 [T/C] NM_001104629 C4orf19 Silent rs1876804 4 37562007 [T/C] NM_001104629 C4orf19 Silent rs2941002 4 37562604 [T/C] NM_001104629 C4orf19 Silent rs11723493 4 37565263 [T/C] NM_001104629 C4orf19 Silent rs10025159 4 37575251 [T/C] NM_001104629 C4orf19 Silent rs2380763 4 37577791 [A/G] NM_001104629 C4orf19 Silent rs6857179 4 37584399 [A/G] NM_001104629 C4orf19 Silent exm394152 4 37591785 [T/C] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Synonymous_D36D,Synonymous_D36D exm394153 4 37591794 [T/A] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_D39E,Missense_D39E exm394155 4 37591843 [T/C] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_P56S,Missense_P56S exm2240950 4 37591942 [A/G] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_A89T,Missense_A89T exm394158 4 37591955 [A/T] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_H93L,Missense_H93L exm394159 4 37591966 [A/G] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_G97S,Missense_G97S exm2073535 4 37591974 [C/G] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_N99K,Missense_N99K exm394162 4 37592044 [T/C] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_W123R,Missense_W123R exm394163 4 37592075 [T/C] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_T133I,Missense_T133I exm394169 4 37592128 [A/G] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_A151T,Missense_A151T exm394172 4 37592212 [T/C] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_H179Y,Missense_H179Y exm394173 4 37592236 [A/G] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_D187N,Missense_D187N exm394174 4 37592249 [T/A] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_H191L,Missense_H191L exm394182 4 37592369 [T/C] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_T231M,Missense_T231M exm394183 4 37592408 [A/G] NM_001104629,NM_018302 C4orf19,C4orf19 EXON Missense_E244G,Missense_E244G exm394187 4 37592498 [A/G] NM_001104629,NM_018302,NM_001085399 C4orf19,C4orf19,RELL1 EXON Missense_E274G,Missense_E274G,Silent rs953538 4 37596650 [T/C] NM_001085399 RELL1 Silent rs2973280 4 37604570 [T/C] NM_001085399 RELL1 Silent rs12640317 4 37609699 [A/G] NM_001085399 RELL1 Silent rs17423188 4 37615611 [A/G] NM_001085399,NM_001085400 RELL1,RELL1 Silent,Silent rs16993717 4 37617389 [A/G] NM_001085399,NM_001085400 RELL1,RELL1 Silent,Silent exm394197 4 37633026 [T/C] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_R267H,Missense_R267H exm394198 4 37633027 [A/G] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_R267C,Missense_R267C exm394205 4 37636545 [T/C] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_R215Q,Missense_R215Q exm394207 4 37636608 [T/C] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_R194Q,Missense_R194Q exm394208 4 37636609 [A/G] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_R194W,Missense_R194W exm394209 4 37636636 [T/C] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_G185S,Missense_G185S rs11733542 4 37639139 [T/C] NM_001085399,NM_001085400 RELL1,RELL1 Silent,Silent variant.80526 4 37640069 [T/C] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_S148N,Missense_S148N exm394222 4 37640126 [A/G] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_A129V,Missense_A129V rs6818798 4 37640483 [A/C] NM_001085399,NM_001085400 RELL1,RELL1 Silent,Silent rs17495288 4 37647093 [A/G] NM_001085399,NM_001085400 RELL1,RELL1 Silent,Silent exm394233 4 37651063 [T/C] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_D50N,Missense_D50N exm394234 4 37651074 [A/G] NM_001085399,NM_001085400 RELL1,RELL1 EXON Missense_S46L,Missense_S46L rs9998333 4 37653656 [A/G] NM_001085399,NM_001085400 RELL1,RELL1 Silent,Silent rs12710806 4 37664677 [A/G] NM_001085399,NM_001085400 RELL1,RELL1 Silent,Silent rs10222926 4 37690582 [A/G] rs10011758 4 37695637 [T/C] rs7660340 4 37704067 [A/G] rs13137307 4 37711228 [A/G] rs10017065 4 37719424 [A/G] rs7666650 4 37725293 [T/C] rs1469236 4 37741826 [A/C] rs2995977 4 37752668 [T/C] rs2995976 4 37754104 [T/C] rs929958 4 37769060 [A/C] rs4463081 4 37785000 [A/G] rs870953 4 37786987 [A/G] rs7692977 4 37787117 [T/C] rs2911902 4 37790639 [T/C] rs955290 4 37797027 [A/G] rs2995958 4 37799735 [A/G] rs1109971 4 37803352 [T/C] rs2911874 4 37803799 [A/G] rs11096906 4 37807815 [T/C] rs7437855 4 37808510 [T/C] rs4832737 4 37812202 [A/G] rs12648108 4 37826862 [A/G] exm394241 4 37828402 [A/C] NM_018290 PGM2 EXON Missense_D16E exm394243 4 37831604 [A/G] NM_018290 PGM2 EXON Missense_A34T exm394249 4 37831719 [A/G] NM_018290 PGM2 EXON Missense_R72H exm394253 4 37836294 [A/G] NM_018290 PGM2 EXON Missense_V102M variant.80527 4 37836312 [T/C] NM_018290 PGM2 EXON Nonsense_R108X rs2714555 4 37837819 [A/G] NM_018290 PGM2 Silent exm394260 4 37839164 [A/G] NM_018290 PGM2 EXON Missense_A124T rs3775793 4 37840606 [A/G] NM_018290 PGM2 Silent indel.80528 4 37841714 [D/I] NM_018290 PGM2 EXON exm394267 4 37841715 [A/G] NM_018290 PGM2 EXON Missense_I185V exm394270 4 37841767 [T/C] NM_018290 PGM2 EXON Missense_P202L rs2714559 4 37841942 [T/C] NM_018290 PGM2 Silent variant.80530 4 37846179 [A/C] NM_018290 PGM2 Silent exm2256595 4 37847307 [T/C] NM_018290 PGM2 EXON Synonymous_N321N exm394289 4 37848578 [A/G] NM_018290 PGM2 EXON Missense_N345S exm394296 4 37848697 [T/C] NM_018290 PGM2 EXON Missense_R385W indel.80533 4 37848883 [I/D] NM_018290 PGM2 EXON rs2290741 4 37849004 [T/C] NM_018290 PGM2 Silent exm394305 4 37850188 [T/C] NM_018290 PGM2 EXON Missense_A443V exm394309 4 37851814 [A/C] NM_018290 PGM2 EXON Nonsense_Y474X exm394310 4 37851856 [A/C] NM_018290 PGM2 EXON Missense_E488D rs10001580 4 37851856 [A/C] NM_018290 PGM2 EXON Missense_E488D exm394311 4 37851857 [A/G] NM_018290 PGM2 EXON Missense_T489A rs4832960 4 37854182 [A/G] NM_018290 PGM2 Silent exm394320 4 37857286 [A/G] NM_018290 PGM2 EXON Missense_V554M exm394321 4 37857296 [T/C] NM_018290 PGM2 EXON Missense_M557T exm394322 4 37857299 [A/G] NM_018290 PGM2 EXON Missense_R558H exm394324 4 37857332 [A/G] NM_018290 PGM2 EXON Missense_Y569C newrs192850801 4 37857367 [A/G] NM_018290 PGM2 Silent rs6812086 4 37858815 [T/G] NM_018290 PGM2 Silent rs6844466 4 37860967 [T/C] NM_018290 PGM2 Silent rs6820778 4 37862522 [T/C] NM_018290 PGM2 Silent exm394327 4 37863193 [T/C] NM_018290 PGM2 EXON Missense_F600S var_4_37863195 4 37863195 [T/C] NM_018290 PGM2 EXON Nonsense_Q601X exm2073593 4 37863204 [A/G] NM_018290 PGM2 EXON Missense_K604E variant.80537 4 37863209 [A/C] NM_018290 PGM2 EXON Nonsense_Y605X rs11734812 4 37868667 [T/C] rs9996566 4 37884116 [A/C] rs17578829 4 37885195 [A/G] rs3893296 4 37900371 [A/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent exm394335 4 37903756 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_S14P,Missense_S14P exm394343 4 37903880 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_T55I,Missense_T55I rs2279026 4 37904082 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Synonymous_A122A,Synonymous_A122A exm394350 4 37904089 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_R125W,Missense_R125W rs2925948 4 37909841 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent rs17497040 4 37926978 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent rs4832745 4 37930312 [T/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent rs13121101 4 37955351 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent exm394354 4 37962104 [T/C] NM_015173,NM_001253912,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON Silent,Silent,Missense_R17C rs2290740 4 37962133 [A/G] NM_015173,NM_001253912,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON Silent,Silent,Synonymous_L26L exm394357 4 37962186 [G/C] NM_015173,NM_001253912,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON Silent,Silent,Missense_R44P indel.80540 4 37962197 [I/D] NM_015173,NM_001253912,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON variant.80541 4 37962216 [A/C] NM_015173,NM_001253912,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON Silent,Silent,Nonsense_S54X indel.80542 4 37962224 [D/I] NM_015173,NM_001253912,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON exm394361 4 37962249 [A/G] NM_015173,NM_001253912,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON Silent,Silent,Missense_G65D exm394364 4 37962334 [A/G] NM_015173,NM_001253912,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON Silent,Silent,Missense_M93I indel.80543 4 37962341 [I/D] NM_015173,NM_001253912,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON indel.80544 4 37962350 [D/I] NM_015173,NM_001253912,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON exm394370 4 37962455 [T/C] NM_015173,NM_001253912,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON Silent,Silent,Missense_R134C exm394378 4 37962617 [A/G] NM_015173,NM_001253912,NM_006607 TBC1D1,TBC1D1,PTTG2 EXON Silent,Silent,Missense_D188N rs9306955 4 37970850 [A/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent rs6858227 4 37973722 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent rs6841167 4 37990581 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent rs6858606 4 37995170 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent exm2269741 4 37996334 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent rs10084926 4 37996827 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent rs7672883 4 38006686 [A/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent rs17579337 4 38007559 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent rs6835205 4 38007612 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent exm394390 4 38016357 [A/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_N215K,Missense_N215K exm394401 4 38016517 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_I269V,Missense_I269V rs13142228 4 38018181 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent exm394408 4 38019979 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_G296D,Missense_G296D exm394413 4 38022219 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_R327K,Missense_R327K exm394417 4 38022282 [A/T] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_V348D,Missense_V348D indel.80547 4 38022292 [I/D] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON exm394423 4 38023294 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_G389S,Missense_G389S exm394425 4 38023301 [G/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_P391R,Missense_P391R rs933819 4 38026106 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent rs933821 4 38026389 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent exm394433 4 38029466 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_N423S,Missense_N423S exm394435 4 38037303 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_I466T,Missense_I466T exm394439 4 38045998 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_A477T,Missense_A477T rs10018389 4 38046569 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent rs11096921 4 38046709 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent exm394448 4 38051283 [G/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_S558R,Missense_S558R exm394454 4 38051363 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_S585L,Missense_S585L exm394458 4 38051458 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_V617I,Missense_V617I exm394461 4 38051465 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_Q619R,Missense_Q619R exm394470 4 38055830 [T/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_S641A,Missense_S735A exm394471 4 38055845 [A/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_L646I,Missense_L740I rs1863329 4 38060485 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent rs17497671 4 38073974 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent rs10001462 4 38074186 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent rs933818 4 38079294 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent rs1425576 4 38080507 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent rs1863325 4 38087105 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent exm394482 4 38091655 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_R718H,Missense_R812H variant.80552 4 38091663 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Nonsense_R721X,Nonsense_R815X rs2303421 4 38092096 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent exm394496 4 38104629 [A/G] NM_015173,NM_001253912 TBC1D1,TBC1D1 EXON Missense_R803H,Missense_R897H rs1344603 4 38109847 [T/C] NM_015173,NM_001253912 TBC1D1,TBC1D1 Silent,Silent exm394510 4 38119768 [A/G] NM_015173,NM_001253912,NM_001253913,NM_001253914 TBC1D1,TBC1D1,TBC1D1,TBC1D1 EXON Missense_M973V,Silent,Missense_M70V,Missense_M70V exm394512 4 38119798 [A/G] NM_015173,NM_001253912,NM_001253913,NM_001253914 TBC1D1,TBC1D1,TBC1D1,TBC1D1 EXON Missense_V983I,Silent,Missense_V80I,Missense_V80I rs645469 4 38122459 [A/G] NM_015173,NM_001253912,NM_001253913,NM_001253914,NM_001253915 TBC1D1,TBC1D1,TBC1D1,TBC1D1,TBC1D1 Silent,Silent,Silent,Silent,Silent rs2067557 4 38123916 [T/C] NM_015173,NM_001253912,NM_001253913,NM_001253914,NM_001253915 TBC1D1,TBC1D1,TBC1D1,TBC1D1,TBC1D1 Silent,Silent,Silent,Silent,Silent exm394516 4 38126619 [A/C] NM_015173,NM_001253912,NM_001253913,NM_001253914,NM_001253915 TBC1D1,TBC1D1,TBC1D1,TBC1D1,TBC1D1 EXON Missense_K1000T,Silent,Missense_K97T,Missense_K97T,Missense_K12T rs6816462 4 38137850 [T/C] NM_015173,NM_001253912,NM_001253913,NM_001253914,NM_001253915 TBC1D1,TBC1D1,TBC1D1,TBC1D1,TBC1D1 Silent,Silent,Silent,Silent,Silent exm394527 4 38138759 [A/G] NM_015173,NM_001253912,NM_001253913,NM_001253914,NM_001253915 TBC1D1,TBC1D1,TBC1D1,TBC1D1,TBC1D1 EXON Missense_A1104T,Missense_A1095T,Missense_A201T,Missense_A201T,Missense_A116T exm394531 4 38138856 [A/G] NM_015173,NM_001253912,NM_001253913,NM_001253914,NM_001253915 TBC1D1,TBC1D1,TBC1D1,TBC1D1,TBC1D1 EXON Missense_R1136Q,Missense_R1127Q,Missense_R233Q,Missense_R233Q,Missense_R148Q exm394532 4 38138874 [T/C] NM_015173,NM_001253912,NM_001253913,NM_001253914,NM_001253915 TBC1D1,TBC1D1,TBC1D1,TBC1D1,TBC1D1 EXON Missense_T1142M,Missense_T1133M,Missense_T239M,Missense_T239M,Missense_T154M exm394540 4 38138951 [A/G] NM_015173,NM_001253912,NM_001253913,NM_001253914,NM_001253915 TBC1D1,TBC1D1,TBC1D1,TBC1D1,TBC1D1 EXON Missense_D1168N,Missense_D1159N,Missense_D265N,Missense_D265N,Missense_D180N rs6814900 4 38157510 [T/G] rs6844679 4 38162567 [T/C] rs6849562 4 38167985 [T/C] rs907311 4 38170057 [T/C] rs1991231 4 38170173 [A/G] rs4832992 4 38172840 [A/G] rs693978 4 38180161 [A/G] rs6854035 4 38181054 [T/C] rs586844 4 38187084 [T/C] rs4832994 4 38189873 [T/C] rs17498347 4 38194576 [T/C] rs2380962 4 38197189 [T/G] rs1397816 4 38205831 [T/C] rs4554086 4 38212624 [T/C] rs11096936 4 38213124 [A/G] rs10012308 4 38213331 [A/G] rs6833738 4 38216411 [A/G] exm2269742 4 38219277 [T/C] rs7654067 4 38225077 [T/C] rs2381135 4 38225756 [T/C] rs6531617 4 38228570 [A/G] rs2055889 4 38231635 [T/G] rs6857949 4 38237981 [A/G] rs16994359 4 38246265 [T/C] rs4833022 4 38251292 [A/C] rs17426830 4 38253255 [T/C] rs907314 4 38254453 [T/C] rs1006658 4 38271832 [T/C] rs7660869 4 38276064 [T/C] exm-rs11725412 4 38277754 [A/G] rs11725412 4 38277754 [A/G] rs1995963 4 38277904 [T/C] rs13119207 4 38285407 [T/C] rs2890608 4 38301690 [A/G] rs991331 4 38308761 [T/G] rs4833034 4 38318354 [T/C] rs7677938 4 38321682 [T/C] rs6856616 4 38325036 [T/C] rs1906297 4 38325105 [T/C] rs13101978 4 38333458 [T/A] rs12502727 4 38344189 [A/G] rs716975 4 38349236 [T/C] rs13133642 4 38366090 [T/C] rs1487624 4 38367538 [A/G] rs6840119 4 38379495 [A/G] rs1487631 4 38395949 [A/G] rs6531631 4 38396739 [A/G] rs6832648 4 38398572 [T/G] rs17581201 4 38409358 [A/G] rs901703 4 38413846 [T/C] rs1487620 4 38419597 [A/G] rs10012289 4 38425619 [T/C] rs1601758 4 38433101 [T/C] rs4240245 4 38452184 [T/C] rs17615370 4 38464493 [A/G] rs4131726 4 38465656 [A/C] rs4833057 4 38475721 [A/G] rs4832778 4 38492765 [A/G] rs11723479 4 38506777 [A/C] rs2637718 4 38508357 [T/C] rs1873515 4 38509827 [T/C] rs17500058 4 38514293 [A/G] rs11946196 4 38519943 [A/G] rs17615522 4 38527901 [A/C] rs7688952 4 38533692 [A/C] rs923665 4 38537708 [T/C] rs2703904 4 38548187 [A/G] rs6853067 4 38562694 [A/G] rs7654396 4 38570708 [A/G] rs4833071 4 38582859 [T/C] rs7678850 4 38592867 [T/C] rs337637 4 38604470 [A/G] rs337641 4 38611802 [A/G] rs1962053 4 38612357 [A/C] rs2637713 4 38627337 [A/G] NR_026804 FLJ13197 EXON Silent rs1824652 4 38644597 [T/C] NR_026804 FLJ13197 Silent rs337609 4 38662059 [A/C] NR_026804 FLJ13197 Silent rs9522 4 38666972 [T/C] NM_016531 KLF3 Silent rs9992667 4 38680186 [T/C] NM_016531 KLF3 Silent rs16994718 4 38688362 [T/C] NM_016531 KLF3 Silent exm2073665 4 38690488 [A/G] NM_016531 KLF3 EXON Missense_V114M exm394574 4 38690647 [A/G] NM_016531 KLF3 EXON Missense_V167I exm394577 4 38690677 [T/A] NM_016531 KLF3 EXON Missense_S177C exm394579 4 38691418 [T/C] NM_016531 KLF3 EXON Missense_P205S rs1000096 4 38692835 [T/C] NM_016531 KLF3 Silent exm394585 4 38696369 [A/C] NM_016531 KLF3 EXON Missense_N233T variant.80558 4 38696532 [T/C] NM_016531 KLF3 Silent rs17500878 4 38702929 [A/G] NM_016531 KLF3 EXON Silent rs17582575 4 38703734 [A/C] rs13132956 4 38711684 [T/C] rs1005761 4 38722709 [A/G] rs7660102 4 38724573 [A/C] rs7658334 4 38728076 [A/G] rs7660114 4 38732464 [T/C] rs6842064 4 38741445 [T/C] rs9968502 4 38741849 [T/C] rs6838865 4 38745883 [T/G] rs11946541 4 38750680 [A/G] rs4540058 4 38751694 [A/G] rs6824105 4 38754189 [A/G] exm2269743 4 38769408 [T/C] rs4331786 4 38769408 [T/C] rs10776482 4 38774785 [A/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Synonymous_D809D,Synonymous_D809D,Synonymous_D795D,Synonymous_D809D,Synonymous_D809D exm394601 4 38774816 [T/C] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_R799Q,Missense_R799Q,Missense_R785Q,Missense_R799Q,Missense_R799Q exm394604 4 38774877 [T/C] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_V779I,Missense_V779I,Missense_V765I,Missense_V779I,Missense_V779I exm394605 4 38774889 [T/C] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_I775V,Missense_I775V,Missense_I761V,Missense_I775V,Missense_I775V rs4129009 4 38774889 [T/C] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_I775V,Missense_I775V,Missense_I761V,Missense_I775V,Missense_I775V indel.80559 4 38774893 [I/D] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON exm394606 4 38774898 [A/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Nonsense_R772X,Nonsense_R772X,Nonsense_R758X,Nonsense_R772X,Nonsense_R772X exm394608 4 38774928 [A/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_R762C,Missense_R762C,Missense_R748C,Missense_R762C,Missense_R762C indel.80561 4 38774955 [I/D] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON exm394610 4 38774957 [T/C] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_K752R,Missense_K752R,Missense_K738R,Missense_K752R,Missense_K752R exm394618 4 38775124 [A/C] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_L696F,Missense_L696F,Missense_L682F,Missense_L696F,Missense_L696F exm394633 4 38775639 [A/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_R525W,Missense_R525W,Missense_R511W,Missense_R525W,Missense_R525W exm2073685 4 38775663 [C/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_L517V,Missense_L517V,Missense_L503V,Missense_L517V,Missense_L517V exm394641 4 38775747 [T/C] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_R489G,Missense_R489G,Missense_R475G,Missense_R489G,Missense_R489G exm394642 4 38775794 [A/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_I473T,Missense_I473T,Missense_I459T,Missense_I473T,Missense_I473T newrs11466656 4 38775807 [A/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Nonsense_R469X,Nonsense_R469X,Nonsense_R455X,Nonsense_R469X,Nonsense_R469X exm394646 4 38775900 [A/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_F438L,Missense_F438L,Missense_F424L,Missense_F438L,Missense_F438L exm394650 4 38775922 [T/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Nonsense_Y430X,Nonsense_Y430X,Nonsense_Y416X,Nonsense_Y430X,Nonsense_Y430X exm394651 4 38775929 [A/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_L428P,Missense_L428P,Missense_L414P,Missense_L428P,Missense_L428P exm394653 4 38776070 [T/C] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_G381D,Missense_G381D,Missense_G367D,Missense_G381D,Missense_G381D indel.80566 4 38776098 [D/I] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON exm394655 4 38776104 [A/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Nonsense_Q370X,Nonsense_Q370X,Nonsense_Q356X,Nonsense_Q370X,Nonsense_Q370X exm394656 4 38776107 [T/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_I369L,Missense_I369L,Missense_I355L,Missense_I369L,Missense_I369L exm394661 4 38776169 [A/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_T348M,Missense_T348M,Missense_T334M,Missense_T348M,Missense_T348M exm394665 4 38776235 [A/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_M326T,Missense_M326T,Missense_M312T,Missense_M326T,Missense_M326T exm394668 4 38776320 [T/C] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_V298I,Missense_V298I,Missense_V284I,Missense_V298I,Missense_V298I exm394669 4 38776337 [T/A] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_F292Y,Missense_F292Y,Missense_F278Y,Missense_F292Y,Missense_F292Y exm394670 4 38776355 [T/C] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_Y286C,Missense_Y286C,Missense_Y272C,Missense_Y286C,Missense_Y286C variant.80568 4 38776383 [A/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Nonsense_R277X,Nonsense_R277X,Nonsense_R263X,Nonsense_R277X,Nonsense_R277X exm394671 4 38776389 [A/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Nonsense_Q275X,Nonsense_Q275X,Nonsense_Q261X,Nonsense_Q275X,Nonsense_Q275X exm394672 4 38776431 [C/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_L261V,Missense_L261V,Missense_L247V,Missense_L261V,Missense_L261V exm394674 4 38776438 [T/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_D258E,Missense_D258E,Missense_D244E,Missense_D258E,Missense_D258E rs11096957 4 38776491 [T/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_N241H,Missense_N241H,Missense_N227H,Missense_N241H,Missense_N241H exm394678 4 38776491 [T/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_N241H,Missense_N241H,Missense_N227H,Missense_N241H,Missense_N241H exm394679 4 38776508 [T/C] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_R235Q,Missense_R235Q,Missense_R221Q,Missense_R235Q,Missense_R235Q exm394687 4 38776712 [A/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_L167P,Missense_L167P,Missense_L153P,Missense_L167P,Missense_L167P exm394688 4 38776725 [A/C] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_A163S,Missense_A163S,Missense_A149S,Missense_A163S,Missense_A163S exm394689 4 38776788 [A/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_S142P,Missense_S142P,Missense_S128P,Missense_S142P,Missense_S142P exm394692 4 38776832 [T/C] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_N127S,Missense_N127S,Missense_N113S,Missense_N127S,Missense_N127S exm394698 4 38776925 [T/C] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_K96R,Missense_K96R,Missense_K82R,Missense_K96R,Missense_K96R exm394701 4 38777037 [T/G] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 EXON Missense_L59I,Missense_L59I,Missense_L45I,Missense_L59I,Missense_L59I rs11466612 4 38780721 [T/C] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 Silent,Silent,Silent,Silent,Silent rs11725309 4 38783848 [T/C] NM_001195107,NM_001195106,NM_001195108,NM_001017388,NM_030956 TLR10,TLR10,TLR10,TLR10,TLR10 Silent,Silent,Silent,Silent,Silent rs7663239 4 38785850 [T/G] rs12233670 4 38787216 [T/C] indel.80572 4 38798147 [I/D] NM_003263 TLR1 EXON exm394719 4 38798235 [A/G] NM_003263 TLR1 EXON Missense_P740S exm394723 4 38798294 [T/G] NM_003263 TLR1 EXON Missense_H720P indel.80575 4 38798491 [I/D] NM_003263 TLR1 EXON exm394735 4 38798501 [A/G] NM_003263 TLR1 EXON Missense_V651A exm394739 4 38798561 [A/C] NM_003263 TLR1 EXON Missense_L631R indel.80578 4 38799162 [I/D] NM_003263 TLR1 EXON exm394774 4 38799283 [T/C] NM_003263 TLR1 EXON Missense_I390M exm2276860 4 38799297 [A/C] NM_003263 TLR1 EXON Nonsense_E386X exm394777 4 38799315 [A/G] NM_003263 TLR1 EXON Nonsense_Q380X exm394778 4 38799342 [A/G] NM_003263 TLR1 EXON Missense_L371F exm394779 4 38799399 [T/G] NM_003263 TLR1 EXON Missense_H352N exm394781 4 38799409 [T/G] NM_003263 TLR1 EXON Missense_S348R exm394784 4 38799444 [A/G] NM_003263 TLR1 EXON Missense_R337C exm394785 4 38799449 [C/G] NM_003263 TLR1 EXON Missense_G335A exm394792 4 38799509 [A/G] NM_003263 TLR1 EXON Missense_P315L exm394795 4 38799560 [A/G] NM_003263 TLR1 EXON Missense_S298F exm394796 4 38799612 [T/C] NM_003263 TLR1 EXON Missense_V281M exm394801 4 38799710 [T/C] NM_003263 TLR1 EXON Missense_N248S exm394804 4 38799774 [A/C] NM_003263 TLR1 EXON Missense_D227Y exm394805 4 38799833 [T/G] NM_003263 TLR1 EXON Missense_D207A indel.80580 4 38799860 [D/I] NM_003263 TLR1 EXON newrs56043098 4 38799862 [D/I] NM_003263 TLR1 EXON exm394811 4 38799957 [A/T] NM_003263 TLR1 EXON Nonsense_K166X exm394813 4 38800022 [A/G] NM_003263 TLR1 EXON Missense_L144P exm394816 4 38800089 [A/C] NM_003263 TLR1 EXON Missense_S122A exm394817 4 38800101 [A/G] NM_003263 TLR1 EXON Missense_H118Y exm394819 4 38800131 [A/T] NM_003263 TLR1 EXON Missense_I108F exm394824 4 38800282 [T/C] NM_003263 TLR1 EXON Missense_I57M exm394827 4 38800323 [A/G] NM_003263 TLR1 EXON Missense_S44P var_4_38800377 4 38800377 [A/C] NM_003263 TLR1 EXON Nonsense_E26X rs5743551 4 38807654 [T/C] exm394837 4 38828757 [T/C] NM_006068 TLR6 EXON Missense_A780T exm394838 4 38828766 [T/C] NM_006068 TLR6 EXON Missense_I777V exm394839 4 38828768 [T/C] NM_006068 TLR6 EXON Missense_N776S exm394841 4 38828823 [A/G] NM_006068 TLR6 EXON Missense_R758W exm394842 4 38828828 [A/G] NM_006068 TLR6 EXON Missense_T756M indel.80586 4 38829087 [I/D] NM_006068 TLR6 EXON exm394853 4 38829111 [G/C] NM_006068 TLR6 EXON Missense_P662A exm394879 4 38829722 [T/C] NM_006068 TLR6 EXON Missense_H458R exm394881 4 38829815 [A/G] NM_006068 TLR6 EXON Missense_V427A exm394882 4 38829816 [T/C] NM_006068 TLR6 EXON Missense_V427I exm394886 4 38829899 [A/G] NM_006068 TLR6 EXON Missense_T399M exm394894 4 38830116 [T/C] NM_006068 TLR6 EXON Missense_V327M exm394895 4 38830130 [A/G] NM_006068 TLR6 EXON Missense_T322I exm394896 4 38830157 [A/G] NM_006068 TLR6 EXON Missense_T313M exm394905 4 38830331 [A/G] NM_006068 TLR6 EXON Missense_T255I exm394909 4 38830355 [T/C] NM_006068 TLR6 EXON Missense_R247K indel.80588 4 38830492 [I/D] NM_006068 TLR6 EXON exm394919 4 38830514 [A/G] NM_006068 TLR6 EXON Missense_L194P exm394924 4 38830629 [T/C] NM_006068 TLR6 EXON Missense_M156V exm394926 4 38830703 [T/C] NM_006068 TLR6 EXON Missense_N131S rs5743808 4 38830736 [A/G] NM_006068 TLR6 EXON Missense_I120T exm394927 4 38830736 [A/G] NM_006068 TLR6 EXON Missense_I120T exm394931 4 38830902 [T/C] NM_006068 TLR6 EXON Missense_A65T exm2240970 4 38830919 [A/G] NM_006068 TLR6 EXON Missense_M59T exm394936 4 38831007 [T/C] NM_006068 TLR6 EXON Missense_D30N rs1039559 4 38831596 [A/G] NM_006068 TLR6 Silent rs6833914 4 38840162 [T/C] NM_006068 TLR6 Silent rs7685852 4 38846885 [A/G] NM_006068 TLR6 Silent rs6531673 4 38847917 [T/C] NM_006068 TLR6 Silent rs17429224 4 38857310 [A/G] NM_006068 TLR6 Silent rs721653 4 38878194 [T/C] NR_033290,NM_138389 FAM114A1,FAM114A1 Silent,Silent exm394946 4 38879818 [T/C] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_S40L exm394950 4 38879895 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_I66V rs11096964 4 38879949 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_G84R exm394953 4 38879949 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_G84R exm394955 4 38879974 [T/C] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_A92V exm394960 4 38880036 [T/C] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Nonsense_Q113X exm394963 4 38880046 [T/C] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_L116P indel.80590 4 38880052 [I/D] NR_033290,NM_138389 FAM114A1,FAM114A1 rs6851685 4 38893843 [T/G] NR_033290,NM_138389 FAM114A1,FAM114A1 Silent,Silent exm2073771 4 38907236 [C/G] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_T177S var_4_38907268 4 38907268 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 Silent,Silent exm394976 4 38907399 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_G192S exm394977 4 38907405 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_A194T exm2256598 4 38907407 [A/C] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Synonymous_A194A exm394979 4 38907427 [T/C] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_P201L exm394980 4 38907441 [T/C] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_R206W newrs142054887 4 38910211 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 Silent,Silent exm394983 4 38910217 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_K221R exm2073778 4 38910316 [T/C] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_T254M rs7655305 4 38912621 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 Silent,Silent variant.80596 4 38916695 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 Silent,Silent rs11736617 4 38917830 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 Silent,Silent rs12509328 4 38924275 [T/C] NR_033290,NM_138389 FAM114A1,FAM114A1 Silent,Silent exm394998 4 38924391 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_V316I exm394999 4 38924409 [T/C] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_S322P variant.80597 4 38924430 [T/G] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Nonsense_E329X exm395001 4 38924485 [T/C] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_L347S rs17429570 4 38930433 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 Silent,Silent rs3866197 4 38930469 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 Silent,Silent exm395005 4 38930893 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_R367H 1KG_4_38930898 4 38930898 [I/D] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON exm2256599 4 38930921 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Synonymous_L376L var_4_38930940 4 38930941 [D/I] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON rs13150445 4 38931097 [A/C] NR_033290,NM_138389 FAM114A1,FAM114A1 Silent,Silent exm395009 4 38933102 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_E398K exm395010 4 38933104 [T/G] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_E398D exm395011 4 38933114 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_V402M rs4833106 4 38933726 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 Silent,Silent exm395014 4 38933859 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_V443I exm395015 4 38933869 [T/C] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_S446L exm395019 4 38933902 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Missense_R457H variant.80600 4 38933910 [T/G] NR_033290,NM_138389 FAM114A1,FAM114A1 EXON Silent,Nonsense_E460X newrs114164425 4 38934000 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 Silent,Silent rs2171778 4 38936833 [A/G] NR_033290,NM_138389 FAM114A1,FAM114A1 Silent,Silent rs2011590 4 38944101 [T/C] NR_033290,NM_138389 FAM114A1,FAM114A1 Silent,Silent rs7694333 4 38952030 [A/G] rs10018196 4 38953494 [A/G] rs17583377 4 38955135 [T/C] rs6841592 4 38965986 [A/C] rs6814637 4 38978171 [T/C] NM_024943 TMEM156 Silent rs11946488 4 38984852 [A/G] NM_024943 TMEM156 Silent rs17583467 4 38988587 [A/G] NM_024943 TMEM156 Silent rs17583481 4 38988621 [T/G] NM_024943 TMEM156 Silent exm2240974 4 38990575 [A/G] NM_024943 TMEM156 EXON Missense_M212T rs13106655 4 38992305 [A/G] NM_024943 TMEM156 Silent rs4974979 4 38994187 [T/G] NM_024943 TMEM156 Silent exm395063 4 38995401 [T/A] NM_024943 TMEM156 EXON Missense_N192K exm395064 4 38995413 [T/C] NM_024943 TMEM156 EXON Missense_M188I exm395074 4 39000305 [A/G] NM_024943 TMEM156 EXON Missense_S105P exm395076 4 39000322 [A/G] NM_024943 TMEM156 EXON Missense_S99L exm395079 4 39000475 [T/C] NM_024943 TMEM156 EXON Missense_Y48C exm395080 4 39000476 [A/T] NM_024943 TMEM156 EXON Missense_Y48N rs11096969 4 39005601 [T/C] NM_024943 TMEM156 Silent rs2566104 4 39019912 [T/G] NM_024943 TMEM156 Silent rs12642359 4 39027082 [T/C] NM_024943 TMEM156 Silent rs6821102 4 39031979 [T/C] NM_024943 TMEM156 Silent exm395083 4 39033851 [A/G] NM_024943 TMEM156 EXON Missense_P28L rs1864495 4 39036311 [A/G] rs2711981 4 39039258 [T/C] rs2566120 4 39055870 [T/C] NM_001007075,NM_001171654 KLHL5,KLHL5 Silent,Silent rs2711943 4 39062436 [T/C] NM_001007075,NM_001171654 KLHL5,KLHL5 Silent,Silent rs11096974 4 39063659 [T/C] NM_001007075,NM_001171654 KLHL5,KLHL5 Silent,Silent exm395092 4 39064162 [A/C] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Silent,Silent,Missense_I10L,Missense_I10L exm395095 4 39064240 [A/C] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Silent,Silent,Missense_R36S,Missense_R36S exm395096 4 39064241 [A/G] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Silent,Silent,Missense_R36H,Missense_R36H exm395103 4 39064372 [A/G] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Missense_S34G,Silent,Missense_S80G,Missense_S80G variant.80615 4 39064384 [T/G] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Nonsense_E38X,Silent,Nonsense_E84X,Nonsense_E84X variant.80616 4 39064391 [A/G] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Nonsense_W40X,Silent,Nonsense_W86X,Nonsense_W86X exm395112 4 39064647 [T/A] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Missense_S125R,Silent,Missense_S171R,Missense_S171R rs2566134 4 39074295 [A/G] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 Silent,Silent,Silent,Silent exm395121 4 39077757 [T/C] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Missense_P186S,Missense_P45S,Silent,Missense_P232S exm395127 4 39083586 [A/G] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Missense_R236H,Missense_R95H,Missense_R221H,Missense_R282H exm395129 4 39083634 [A/G] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Missense_C252Y,Missense_C111Y,Missense_C237Y,Missense_C298Y indel.80618 4 39083668 [I/D] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON indel.80619 4 39083722 [I/D] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON var_4_39088133 4 39088133 [A/G] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 Silent,Silent,Silent,Silent exm395143 4 39088327 [A/C] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Missense_L365I,Missense_L224I,Missense_L350I,Missense_L411I 1KG_4_39088347 4 39088347 [D/I] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON exm395145 4 39098321 [A/G] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Missense_D375N,Missense_D234N,Missense_D360N,Missense_D421N exm395174 4 39116798 [T/A] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Missense_M641L,Missense_M500L,Missense_M626L,Missense_M687L rs3733275 4 39122697 [T/C] NM_001007075,NM_001171654,NM_199039,NM_015990 KLHL5,KLHL5,KLHL5,KLHL5 EXON Silent,Silent,Silent,Silent exm2265690 4 39135564 [A/G] rs2044917 4 39149491 [A/G] rs2711991 4 39151353 [A/G] variant.80623 4 39187402 [A/G] NM_025132 WDR19 EXON Nonsense_W21X variant.80624 4 39196261 [T/C] NM_025132 WDR19 EXON Nonsense_R130X exm395206 4 39201181 [A/G] NM_025132 WDR19 EXON Missense_V164I exm395222 4 39216221 [T/C] NM_025132 WDR19 EXON Synonymous_C297C rs2167494 4 39216221 [T/C] NM_025132 WDR19 EXON Synonymous_C297C exm395223 4 39216240 [A/G] NM_025132 WDR19 EXON Missense_V304I exm395224 4 39216259 [A/G] NM_025132 WDR19 EXON Missense_Y310C exm395228 4 39217529 [G/C] NM_025132 WDR19 EXON Missense_H344D exm395231 4 39217563 [T/A] NM_025132 WDR19 EXON Missense_D355V exm395242 4 39219646 [A/G] NM_025132 WDR19 EXON Missense_R467Q exm395251 4 39226631 [C/G] NM_025132 WDR19 EXON Missense_S536T rs11730558 4 39229771 [A/G] NM_025132 WDR19 Silent exm395261 4 39230243 [A/G] NM_025132 WDR19 EXON Missense_S639G variant.80631 4 39230312 [T/C] NM_025132 WDR19 Silent rs11932351 4 39231457 [T/C] NM_025132 WDR19 Silent exm395262 4 39233418 [T/C] NM_025132 WDR19 EXON Missense_F662L exm395269 4 39233530 [A/G] NM_025132 WDR19 EXON Missense_R699Q exm395274 4 39233878 [A/G] NM_025132 WDR19 EXON Missense_I747V exm395280 4 39241898 [A/G] NM_025132 WDR19 EXON Missense_G789S exm2240979 4 39245910 [A/G] NM_025132 WDR19 EXON Missense_I822V exm395290 4 39246135 [A/G] NM_025132 WDR19 EXON Missense_D870N exm395293 4 39247014 [T/C] NM_025132 WDR19 EXON Missense_H891Y exm395294 4 39247045 [A/G] NM_025132 WDR19 EXON Missense_Y901C exm395296 4 39247063 [T/C] NM_025132 WDR19 EXON Missense_A907V exm395298 4 39254828 [A/C] NM_025132 WDR19 EXON Missense_Y931S exm395303 4 39257474 [A/G] NM_025132 WDR19 EXON Missense_E1003G exm395304 4 39257482 [A/G] NM_025132 WDR19 EXON Missense_T1006A variant.80635 4 39259175 [A/G] NM_025132 WDR19 Silent rs6531698 4 39263814 [T/C] NM_025132 WDR19 Silent exm395310 4 39267749 [A/G] NM_025132 WDR19 EXON Missense_G1084S exm395311 4 39269621 [A/C] NM_025132 WDR19 EXON Missense_K1090Q rs3733280 4 39271541 [A/G] NM_025132 WDR19 Silent exm395314 4 39271653 [A/G] NM_025132 WDR19 EXON Missense_Q1139R exm2256601 4 39271672 [T/C] NM_025132 WDR19 EXON Synonymous_S1145S variant.80637 4 39271725 [A/G] NM_025132 WDR19 Silent exm395318 4 39274649 [A/G] NM_025132 WDR19 EXON Missense_R1178Q exm395322 4 39276529 [T/C] NM_025132 WDR19 EXON Missense_R1223C exm395331 4 39279785 [T/G] NM_025132 WDR19 EXON Missense_C1292F rs2381373 4 39282303 [A/C] NM_025132 WDR19 Silent rs2062229 4 39286766 [T/G] NM_025132 WDR19 Silent exm395339 4 39290391 [A/G] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_S1146L,Missense_S1145L variant.80639 4 39291518 [A/G] NM_001204747,NM_002913 RFC1,RFC1 EXON Nonsense_Q1105X,Nonsense_Q1104X exm395352 4 39293374 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_Q1019R,Missense_Q1018R variant.80640 4 39297229 [A/C] NM_001204747,NM_002913 RFC1,RFC1 Silent,Silent exm395362 4 39297328 [T/G] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_Q955K,Missense_Q954K rs6531708 4 39301572 [A/G] NM_001204747,NM_002913 RFC1,RFC1 Silent,Silent exm395398 4 39306471 [C/G] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_E692D,Missense_E691D exm395405 4 39306530 [A/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_V673L,Missense_V672L exm395416 4 39308301 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_G637S,Missense_G636S exm395420 4 39310257 [A/G] NM_001204747,NM_002913 RFC1,RFC1 EXON Synonymous_H628H,Synonymous_H628H exm395430 4 39310349 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_I598V,Missense_I598V exm395431 4 39310364 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_T593A,Missense_T593A exm395432 4 39310438 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_K568R,Missense_K568R exm2073945 4 39310505 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_T546A,Missense_T546A exm395443 4 39313166 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_A463T,Missense_A463T exm395445 4 39314407 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_M450V,Missense_M450V exm395448 4 39314478 [A/G] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_A426V,Missense_A426V exm395449 4 39314494 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_I421V,Missense_I421V rs2066790 4 39318706 [A/G] NM_001204747,NM_002913 RFC1,RFC1 Silent,Silent exm395454 4 39322017 [A/G] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_P361S,Missense_P361S exm395455 4 39322028 [G/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_T357S,Missense_T357S exm395457 4 39322061 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_K346R,Missense_K346R exm395467 4 39322973 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_G248R,Missense_G248R exm395468 4 39322975 [A/G] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_A247V,Missense_A247V indel.80642 4 39325020 [I/D] NM_001204747,NM_002913 RFC1,RFC1 EXON exm395475 4 39328181 [A/T] NM_001204747,NM_002913 RFC1,RFC1 Silent,Silent rs11096992 4 39329102 [A/G] NM_001204747,NM_002913 RFC1,RFC1 Silent,Silent exm395489 4 39343994 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_Q101R,Missense_Q101R exm395498 4 39353047 [T/C] NM_001204747,NM_002913 RFC1,RFC1 EXON Missense_S18N,Missense_S18N rs11096995 4 39358058 [T/C] NM_001204747,NM_002913 RFC1,RFC1 Silent,Silent rs17584703 4 39364856 [T/C] NM_001204747,NM_002913 RFC1,RFC1 Silent,Silent rs6844176 4 39366590 [T/C] NM_001204747,NM_002913 RFC1,RFC1 Silent,Silent rs6823497 4 39385821 [A/C] rs2381378 4 39395770 [T/G] rs13135439 4 39405151 [T/G] exm395511 4 39408595 [A/C] NM_175737 KLB EXON Missense_S9Y exm395515 4 39408699 [T/C] NM_175737 KLB EXON Missense_L44F exm395518 4 39408735 [A/G] NM_175737 KLB EXON Missense_D56N exm395519 4 39408762 [C/G] NM_175737 KLB EXON Missense_P65A exm395525 4 39409062 [A/G] NM_175737 KLB EXON Missense_T165A exm395527 4 39409066 [T/C] NM_175737 KLB EXON Missense_V166A rs11940694 4 39414993 [A/G] NM_175737 KLB Silent rs13147477 4 39419322 [T/C] NM_175737 KLB Silent rs7674434 4 39419409 [T/G] NM_175737 KLB Silent rs1979283 4 39430969 [T/C] NM_175737 KLB Silent exm395541 4 39435929 [T/C] NM_175737 KLB EXON Missense_R309W exm395547 4 39436019 [A/G] NM_175737 KLB EXON Missense_D339N exm395558 4 39439368 [A/G] NM_175737 KLB EXON Missense_R453Q exm395563 4 39439520 [C/G] NM_175737 KLB EXON Missense_R504G exm395565 4 39439527 [A/G] NM_175737 KLB EXON Missense_N506S exm2240983 4 39448171 [A/G] NM_175737 KLB EXON Missense_T609A exm395574 4 39448187 [T/C] NM_175737 KLB EXON Missense_A614V exm395591 4 39448586 [T/C] NM_175737 KLB EXON Missense_A747V exm395598 4 39448789 [A/G] NM_175737 KLB EXON Missense_K815E exm395602 4 39448873 [T/C] NM_175737 KLB EXON Missense_S843P exm395613 4 39449062 [T/C] NM_175737 KLB EXON Missense_Y906H exm395622 4 39450118 [A/G] NM_175737 KLB EXON Missense_T983A exm395624 4 39450196 [A/G] NM_175737 KLB EXON Missense_V1009I exm395628 4 39450229 [A/C] NM_175737 KLB EXON Missense_Q1020K exm2256602 4 39450305 [A/G] NM_175737 KLB EXON Synonymous_X1045X rs9995998 4 39452290 [T/C] NM_175737 KLB EXON Silent rs2249563 4 39455378 [A/G] exm395674 4 39462421 [A/C] NM_194451,NM_006859 LIAS,LIAS EXON Missense_R19S,Missense_R19S exm395682 4 39462537 [T/C] NM_194451,NM_006859 LIAS,LIAS EXON Missense_T58I,Missense_T58I exm395692 4 39465211 [A/C] NM_194451,NM_006859 LIAS,LIAS EXON Missense_T127P,Missense_T127P newrs144133667 4 39471647 [A/G] NM_194451,NM_006859 LIAS,LIAS EXON Missense_R249H,Missense_R249H exm2074048 4 39471708 [A/G] NM_194451,NM_006859 LIAS,LIAS EXON Synonymous_Q269Q,Synonymous_Q269Q exm395710 4 39472916 [A/G] NM_194451,NM_006859 LIAS,LIAS EXON Missense_R315H,Missense_R315H rs749915 4 39474868 [A/G] NM_194451,NM_006859 LIAS,LIAS Silent,Silent rs2259073 4 39475074 [A/C] NM_194451,NM_006859 LIAS,LIAS Silent,Silent rs17618369 4 39478164 [T/C] NM_194451,NM_006859 LIAS,LIAS Silent,Silent rs16995300 4 39478264 [A/G] NM_194451,NM_006859 LIAS,LIAS Silent,Silent rs2260645 4 39482684 [A/C] NR_026854 LOC401127 EXON Silent rs2687964 4 39496272 [T/G] rs1450 4 39500514 [T/C] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Silent,Silent,Silent exm2269914 4 39500514 [T/C] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Silent,Silent,Silent rs1046573 4 39501086 [A/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Silent,Silent,Silent exm395720 4 39501825 [A/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Missense_P408S,Missense_P475S,Missense_P378S variant.80652 4 39506129 [T/C] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH Silent,Silent,Silent rs1379819 4 39506144 [T/C] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH Silent,Silent,Silent exm395735 4 39510200 [A/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Missense_R231C,Missense_R298C,Missense_R201C exm395751 4 39512325 [A/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Silent,Missense_R141C,Missense_R44C exm395754 4 39512402 [T/C] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Silent,Missense_R115H,Missense_R18H exm395755 4 39512403 [A/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Silent,Missense_R115C,Missense_R18C exm395757 4 39515714 [T/C] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Missense_V85I,Missense_V85I,Silent rs10019532 4 39515736 [A/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Synonymous_D77D,Synonymous_D77D,Silent exm2256604 4 39515754 [A/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Synonymous_F71F,Synonymous_F71F,Silent exm395763 4 39515774 [A/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Nonsense_R65X,Nonsense_R65X,Silent rs6817264 4 39518110 [T/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH Silent,Silent,Silent exm395769 4 39523035 [A/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH EXON Missense_T33M,Missense_T33M,Silent rs13129975 4 39526641 [A/G] NM_001184700,NM_003359,NM_001184701 UGDH,UGDH,UGDH Silent,Silent,Silent rs2381387 4 39531928 [A/G] NR_047679 UGDH-AS1 Silent rs11944799 4 39557864 [T/C] NR_047679,NM_174921 UGDH-AS1,SMIM14 Silent,Silent exm395771 4 39558053 [A/G] NR_047679,NM_174921 UGDH-AS1,SMIM14 EXON Silent,Missense_H88Y exm395772 4 39558085 [T/C] NR_047679,NM_174921 UGDH-AS1,SMIM14 EXON Silent,Missense_G77E rs28408009 4 39566499 [A/G] NR_047679,NM_174921 UGDH-AS1,SMIM14 Silent,Silent rs17618779 4 39583823 [A/C] NR_047679,NM_174921 UGDH-AS1,SMIM14 Silent,Silent rs2890698 4 39586775 [T/G] NR_047679,NM_174921 UGDH-AS1,SMIM14 Silent,Silent rs6833494 4 39605669 [A/G] NM_174921 SMIM14 Silent exm395779 4 39606716 [T/C] NM_174921 SMIM14 EXON Missense_H17R rs10013417 4 39608977 [A/G] NM_174921 SMIM14 Silent rs4554087 4 39611046 [A/G] NM_174921 SMIM14 Silent rs9306973 4 39627570 [T/C] NM_174921 SMIM14 Silent rs977385 4 39637826 [T/C] NM_174921 SMIM14 Silent rs1484321 4 39641932 [T/G] rs13104353 4 39643536 [T/C] rs11941588 4 39655457 [T/C] rs10856848 4 39657292 [T/C] rs1484322 4 39671142 [A/G] rs6531736 4 39686517 [A/G] rs4388095 4 39694314 [T/C] rs3912392 4 39698738 [A/G] rs302941 4 39702089 [A/C] NM_001111113,NM_005339,NM_001111112 UBE2K,UBE2K,UBE2K Silent,Silent,Silent rs159987 4 39737672 [A/C] NM_001111113,NM_005339,NM_001111112 UBE2K,UBE2K,UBE2K Silent,Silent,Silent exm395784 4 39739070 [A/G] NM_001111113,NM_005339,NM_001111112 UBE2K,UBE2K,UBE2K EXON Silent,Missense_V32I,Missense_V32I rs724256 4 39747907 [T/C] NM_001111113,NM_005339,NM_001111112 UBE2K,UBE2K,UBE2K Silent,Silent,Silent rs10517528 4 39748523 [T/C] NM_001111113,NM_005339,NM_001111112 UBE2K,UBE2K,UBE2K Silent,Silent,Silent rs459274 4 39776955 [A/G] NM_001111113,NM_005339,NM_001111112 UBE2K,UBE2K,UBE2K Silent,Silent,Silent rs4263408 4 39785276 [T/C] exm2265691 4 39793856 [A/G] rs6816573 4 39803506 [T/C] rs11097004 4 39806505 [T/C] rs1003212 4 39818116 [T/C] rs1003213 4 39818522 [A/C] rs3733297 4 39822709 [A/G] rs3775078 4 39824758 [A/G] NM_001100399 PDS5A EXON Silent rs460334 4 39830157 [T/C] NM_001100399 PDS5A Silent rs50296 4 39837128 [T/C] NM_001100399 PDS5A Silent exm395799 4 39839585 [T/C] NM_001100399 PDS5A EXON Missense_V1301M exm395803 4 39839696 [T/C] NM_001100399 PDS5A EXON Missense_A1264T exm395804 4 39839707 [A/G] NM_001100399 PDS5A EXON Missense_S1260L exm395815 4 39850497 [T/C] NM_001100399 PDS5A EXON Missense_M1105V exm395816 4 39850529 [T/C] NM_001100399 PDS5A EXON Missense_N1094S rs17619018 4 39854464 [T/C] NM_001100399 PDS5A Silent rs4547806 4 39864448 [A/G] NM_001100399 PDS5A Silent exm395842 4 39881453 [A/G] NM_001100399 PDS5A EXON Synonymous_S629S rs922749 4 39894988 [T/C] NM_001100399 PDS5A Silent exm2274004 4 39900070 [T/C] NM_001100399,NM_001100400 PDS5A,PDS5A EXON Missense_R570Q,Missense_R570Q rs6839903 4 39921551 [A/G] NM_001100399,NM_001100400 PDS5A,PDS5A Silent,Silent rs2679780 4 39933442 [T/C] NM_001100399,NM_001100400 PDS5A,PDS5A Silent,Silent rs2732063 4 39943056 [T/C] NM_001100399,NM_001100400 PDS5A,PDS5A Silent,Silent rs6815880 4 39943252 [A/G] NM_001100399,NM_001100400 PDS5A,PDS5A Silent,Silent newrs183378231 4 39978060 [T/C] NM_001100399,NM_001100400 PDS5A,PDS5A EXON Synonymous_K46K,Synonymous_K46K exm395879 4 39978060 [T/C] NM_001100399,NM_001100400 PDS5A,PDS5A EXON Synonymous_K46K,Synonymous_K46K exm395882 4 39978112 [A/C] NM_001100399,NM_001100400 PDS5A,PDS5A EXON Missense_V29G,Missense_V29G rs7677857 4 39989369 [T/C] rs10213194 4 39999094 [A/G] rs7686844 4 40022511 [A/G] rs11097011 4 40035491 [T/C] rs7665844 4 40035613 [T/G] rs12503993 4 40047752 [A/G] NR_027277 LOC344967 Silent rs11737408 4 40048935 [T/C] NR_027277 LOC344967 Silent rs2667720 4 40051678 [T/C] NR_027277 LOC344967 Silent rs10017867 4 40071832 [T/G] NM_018177 N4BP2 Silent rs7658672 4 40075187 [A/G] NM_018177 N4BP2 Silent rs4974961 4 40097557 [T/C] NM_018177 N4BP2 Silent exm395894 4 40103767 [T/G] NM_018177 N4BP2 EXON Missense_S101I exm395896 4 40103817 [A/G] NM_018177 N4BP2 EXON Missense_E118K exm395903 4 40103940 [C/G] NM_018177 N4BP2 EXON Missense_D159H exm395904 4 40103986 [A/G] NM_018177 N4BP2 EXON Missense_N174S exm395909 4 40104051 [A/G] NM_018177 N4BP2 EXON Missense_M196V exm395912 4 40104096 [A/G] NM_018177 N4BP2 EXON Missense_S211G exm395915 4 40104288 [A/G] NM_018177 N4BP2 EXON Missense_V275I exm395916 4 40104294 [G/C] NM_018177 N4BP2 EXON Missense_A277P exm2074159 4 40104609 [T/C] NM_018177 N4BP2 EXON Missense_P382S exm395930 4 40104646 [A/C] NM_018177 N4BP2 EXON Missense_N394T exm395933 4 40104705 [A/G] NM_018177 N4BP2 EXON Missense_K414E exm395936 4 40104739 [A/C] NM_018177 N4BP2 EXON Missense_T425N rs10033188 4 40110337 [A/G] NM_018177 N4BP2 Silent exm395950 4 40119602 [A/G] NM_018177 N4BP2 EXON Missense_R593H exm395953 4 40119617 [T/C] NM_018177 N4BP2 EXON Missense_A598V variant.80659 4 40119644 [A/G] NM_018177 N4BP2 EXON Missense_S607N rs1706034 4 40120897 [A/G] NM_018177 N4BP2 Silent exm395955 4 40121562 [A/G] NM_018177 N4BP2 EXON Missense_D611N exm395959 4 40121596 [T/C] NM_018177 N4BP2 EXON Missense_I622T exm395961 4 40121635 [T/A] NM_018177 N4BP2 EXON Missense_E635V exm395962 4 40121710 [A/G] NM_018177 N4BP2 EXON Missense_K660R exm395968 4 40121939 [C/G] NM_018177 N4BP2 EXON Missense_D736E indel.80661 4 40122094 [I/D] NM_018177 N4BP2 EXON exm395974 4 40122168 [A/G] NM_018177 N4BP2 EXON Missense_V813I exm395980 4 40122253 [A/G] NM_018177 N4BP2 EXON Missense_R841Q exm395982 4 40122313 [A/T] NM_018177 N4BP2 EXON Missense_E861V exm395985 4 40122370 [A/G] NM_018177 N4BP2 EXON Missense_N880S exm395986 4 40122377 [A/G] NM_018177 N4BP2 EXON Missense_M882I exm395987 4 40122453 [T/C] NM_018177 N4BP2 EXON Missense_P908S exm395988 4 40122511 [A/C] NM_018177 N4BP2 EXON Missense_H927P exm395992 4 40122706 [A/C] NM_018177 N4BP2 EXON Missense_P992Q exm395994 4 40122771 [T/C] NM_018177 N4BP2 EXON Missense_C1014R exm396000 4 40122958 [T/C] NM_018177 N4BP2 EXON Missense_T1076M exm396011 4 40123284 [A/G] NM_018177 N4BP2 EXON Missense_I1185V exm396017 4 40123399 [T/G] NM_018177 N4BP2 EXON Missense_S1223I exm396019 4 40123462 [A/G] NM_018177 N4BP2 EXON Missense_Y1244C exm2275737 4 40123578 [G/C] NM_018177 N4BP2 EXON Missense_H1283D exm396030 4 40123790 [T/G] NM_018177 N4BP2 EXON Missense_S1353R exm396036 4 40123928 [A/G] NM_018177 N4BP2 EXON Synonymous_S1399S exm396044 4 40125783 [T/C] NM_018177 N4BP2 EXON Nonsense_R1430X newrs149827298 4 40125783 [T/C] NM_018177 N4BP2 EXON Nonsense_R1430X indel.80663 4 40127793 [I/D] NM_018177 N4BP2 EXON exm2074190 4 40127852 [A/G] NM_018177 N4BP2 EXON Missense_M1477V exm2256608 4 40127926 [A/T] NM_018177 N4BP2 EXON Synonymous_I1501I exm396055 4 40138676 [A/G] NM_018177 N4BP2 EXON Missense_T1587A rs794009 4 40139719 [T/G] NM_018177 N4BP2 Silent exm396061 4 40144338 [T/G] NM_018177 N4BP2 EXON Missense_F1611V newrs149506250 4 40144398 [T/C] NM_018177 N4BP2 EXON Nonsense_Q1631X exm396067 4 40144429 [A/G] NM_018177 N4BP2 EXON Missense_K1641R exm396068 4 40144461 [A/G] NM_018177 N4BP2 EXON Missense_A1652T exm396071 4 40146415 [C/G] NM_018177 N4BP2 EXON Missense_T1713S exm396075 4 40154495 [A/G] NM_018177 N4BP2 EXON Missense_I1747V rs6531759 4 40162971 [A/G] rs12643103 4 40194572 [T/C] rs17586314 4 40207190 [T/C] NM_004310 RHOH Silent rs2381499 4 40211997 [T/C] NM_004310 RHOH Silent rs4974974 4 40213628 [T/G] NM_004310 RHOH Silent rs6531762 4 40220469 [T/C] NM_004310 RHOH Silent rs6531763 4 40222303 [T/C] NM_004310 RHOH Silent rs7677758 4 40225912 [T/G] NM_004310 RHOH Silent rs11729556 4 40227671 [T/C] NM_004310 RHOH Silent exm396087 4 40245208 [A/G] NM_004310 RHOH EXON Missense_I68V exm2275738 4 40245517 [A/G] NM_004310 RHOH EXON Missense_V171I rs4600925 4 40246416 [A/G] rs7667815 4 40248956 [A/C] rs2381497 4 40255501 [A/G] rs28802045 4 40265273 [T/C] rs9685160 4 40267780 [T/G] rs9683756 4 40279534 [A/G] rs12186133 4 40283419 [A/G] rs16995695 4 40285341 [T/C] rs6832151 4 40303633 [T/G] rs11728461 4 40329548 [A/G] rs6838680 4 40334852 [A/G] rs4469115 4 40336927 [A/C] exm396108 4 40337919 [A/G] NM_017581 CHRNA9 EXON Missense_R47H variant.80670 4 40337991 [T/G] NM_017581 CHRNA9 Silent exm396120 4 40339303 [A/G] NM_017581 CHRNA9 EXON Missense_R96Q rs10021263 4 40342618 [T/G] NM_017581 CHRNA9 Silent rs4861307 4 40345239 [A/G] NM_017581 CHRNA9 Silent rs7669882 4 40350651 [A/G] NM_017581 CHRNA9 Silent rs10029872 4 40350763 [T/C] NM_017581 CHRNA9 Silent exm396128 4 40350945 [T/C] NM_017581 CHRNA9 EXON Missense_R138W exm396147 4 40351156 [A/T] NM_017581 CHRNA9 EXON Missense_M208K variant.80672 4 40351205 [A/C] NM_017581 CHRNA9 EXON Nonsense_Y224X exm396164 4 40356031 [A/G] NM_017581 CHRNA9 EXON Missense_A312T exm396165 4 40356041 [T/C] NM_017581 CHRNA9 EXON Missense_A315V exm396168 4 40356053 [T/C] NM_017581 CHRNA9 EXON Missense_M319T exm396171 4 40356097 [T/C] NM_017581 CHRNA9 EXON Missense_P334S exm396178 4 40356209 [T/C] NM_017581 CHRNA9 EXON Missense_T371M exm396180 4 40356240 [C/G] NM_017581 CHRNA9 EXON Missense_N381K exm396181 4 40356263 [A/G] NM_017581 CHRNA9 EXON Missense_D389G exm396183 4 40356292 [T/C] NM_017581 CHRNA9 EXON Missense_R399C exm396188 4 40356391 [A/G] NM_017581 CHRNA9 EXON Missense_A432T exm396189 4 40356422 [A/G] NM_017581 CHRNA9 EXON Missense_N442S exm396190 4 40356452 [T/C] NM_017581 CHRNA9 EXON Missense_A452V exm396193 4 40356466 [T/C] NM_017581 CHRNA9 EXON Nonsense_R457X exm396195 4 40356530 [T/C] NM_017581 CHRNA9 EXON Missense_A478V rs4861350 4 40367787 [T/C] rs1492506 4 40373000 [A/C] rs1492505 4 40373150 [T/C] rs10026108 4 40379061 [T/G] rs11731787 4 40396697 [T/C] rs4861106 4 40410479 [A/G] rs278941 4 40420708 [A/G] rs2008438 4 40424602 [T/G] exm396201 4 40428010 [T/C] NM_001098634,NM_019027 RBM47,RBM47 EXON Missense_M565V,Missense_M496V exm396209 4 40428091 [T/C] NM_001098634,NM_019027 RBM47,RBM47 EXON Missense_G538R,Missense_G469R exm396212 4 40428151 [T/C] NM_001098634,NM_019027 RBM47,RBM47 EXON Missense_I518V,Missense_I449V exm396213 4 40434684 [A/G] NM_001098634,NM_019027 RBM47,RBM47 EXON Missense_T509M,Missense_T440M rs2307046 4 40438576 [A/G] NM_001098634,NM_019027 RBM47,RBM47 EXON Synonymous_G404G,Silent exm396264 4 40440535 [A/G] NM_001098634,NM_019027 RBM47,RBM47 EXON Missense_R126C,Missense_R126C exm396266 4 40440552 [T/C] NM_001098634,NM_019027 RBM47,RBM47 EXON Missense_H120R,Missense_H120R exm396271 4 40440643 [T/C] NM_001098634,NM_019027 RBM47,RBM47 EXON Missense_V90M,Missense_V90M exm396275 4 40440783 [T/C] NM_001098634,NM_019027 RBM47,RBM47 EXON Missense_G43D,Missense_G43D rs10755175 4 40443966 [T/G] NM_001098634,NM_019027 RBM47,RBM47 Silent,Silent rs10018317 4 40447356 [A/G] NM_001098634,NM_019027 RBM47,RBM47 Silent,Silent rs7689954 4 40451394 [T/C] NM_001098634,NM_019027 RBM47,RBM47 Silent,Silent rs278962 4 40475295 [T/C] NM_001098634,NM_019027 RBM47,RBM47 Silent,Silent rs16852239 4 40477729 [A/G] NM_001098634,NM_019027 RBM47,RBM47 Silent,Silent rs12641621 4 40491786 [A/G] NM_001098634,NM_019027 RBM47,RBM47 Silent,Silent rs278986 4 40494616 [T/C] NM_001098634,NM_019027 RBM47,RBM47 Silent,Silent rs4504294 4 40498421 [A/G] NM_001098634,NM_019027 RBM47,RBM47 Silent,Silent rs6848632 4 40509521 [T/G] NM_001098634,NM_019027 RBM47,RBM47 Silent,Silent rs430730 4 40519458 [A/G] NM_001098634 RBM47 Silent rs3114381 4 40533297 [T/C] NM_001098634 RBM47 Silent rs4632692 4 40535566 [A/G] NM_001098634 RBM47 Silent exm2261713 4 40549098 [A/G] NM_001098634 RBM47 Silent rs373103 4 40553177 [T/C] NM_001098634 RBM47 Silent rs6841429 4 40565469 [A/C] NM_001098634 RBM47 Silent rs17513191 4 40576393 [A/G] NM_001098634 RBM47 Silent rs17625986 4 40590908 [T/C] NM_001098634 RBM47 Silent rs1384035 4 40598634 [A/G] NM_001098634 RBM47 Silent rs17587482 4 40603055 [T/C] NM_001098634 RBM47 Silent rs10938275 4 40609305 [T/C] NM_001098634 RBM47 Silent rs13152696 4 40624014 [T/C] NM_001098634 RBM47 Silent rs13148961 4 40625135 [T/C] NM_001098634 RBM47 Silent rs13132427 4 40635372 [T/C] rs10015679 4 40644376 [T/C] rs7679359 4 40650498 [T/C] rs1552138 4 40651632 [A/G] rs4861297 4 40652510 [T/G] rs6836880 4 40670323 [T/C] exm2269744 4 40671548 [T/C] rs6836769 4 40677462 [T/C] rs2035381 4 40686808 [T/C] rs6835691 4 40687234 [T/C] rs12498704 4 40690330 [A/G] rs6814199 4 40696983 [T/C] rs12500580 4 40702239 [A/G] rs6815557 4 40710034 [T/G] rs10012870 4 40712344 [A/G] rs10008483 4 40712481 [A/C] rs2200061 4 40722850 [A/G] rs790142 4 40730503 [A/G] rs11727143 4 40739635 [T/C] exm396285 4 40752736 [T/A] NM_024677 NSUN7 EXON Missense_E9V exm396291 4 40752876 [A/G] NM_024677 NSUN7 EXON Missense_G56S rs1545077 4 40754154 [T/C] NM_024677 NSUN7 Silent exm396296 4 40762452 [T/C] NM_024677 NSUN7 EXON Synonymous_Y100Y exm396303 4 40763282 [T/C] NM_024677 NSUN7 EXON Missense_I151T exm396304 4 40763307 [A/C] NM_024677 NSUN7 EXON Missense_N159K rs7699447 4 40771690 [T/C] NM_024677 NSUN7 Silent rs10938385 4 40773665 [A/C] NM_024677 NSUN7 Silent indel.80675 4 40776366 [I/D] NM_024677 NSUN7 EXON exm396312 4 40776821 [T/C] NM_024677 NSUN7 EXON Missense_Y227H exm396316 4 40776916 [A/C] NM_024677 NSUN7 EXON Missense_K258N rs13106136 4 40777147 [A/G] NM_024677 NSUN7 Silent exm396320 4 40778162 [T/G] NM_024677 NSUN7 EXON Missense_S308A exm396321 4 40778195 [T/G] NM_024677 NSUN7 EXON Missense_S319A exm2074259 4 40778256 [T/C] NM_024677 NSUN7 EXON Missense_F339S exm396327 4 40792706 [A/G] NM_024677 NSUN7 EXON Missense_R375H exm396329 4 40792757 [A/G] NM_024677 NSUN7 EXON Missense_H392R exm396331 4 40796492 [A/G] NM_024677 NSUN7 EXON Synonymous_K427K rs2437309 4 40797693 [A/G] NM_024677 NSUN7 Silent exm396334 4 40800878 [A/G] NM_024677 NSUN7 EXON Missense_A453T exm2074268 4 40810351 [T/A] NM_024677 NSUN7 EXON Missense_N518Y variant.80677 4 40810366 [T/C] NM_024677 NSUN7 EXON Nonsense_R523X exm396335 4 40810367 [G/C] NM_024677 NSUN7 EXON Missense_R523P exm396340 4 40810489 [A/C] NM_024677 NSUN7 EXON Missense_M564L indel.80679 4 40810506 [D/I] NM_024677 NSUN7 EXON exm396345 4 40810663 [A/G] NM_024677 NSUN7 EXON Missense_T622A exm396347 4 40810690 [A/C] NM_024677 NSUN7 EXON Missense_Q631K exm396351 4 40810747 [A/G] NM_024677 NSUN7 EXON Missense_K650E exm396352 4 40810827 [C/G] NM_024677 NSUN7 EXON Nonsense_Y676X exm396353 4 40810856 [T/G] NM_024677 NSUN7 EXON Missense_V686G rs11731472 4 40813714 [T/C] NM_001166053,NM_173075,NM_001166054,NM_004307,NM_001166050,NM_001166052,NM_001166051 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm396360 4 40818170 [T/C] NM_001166053,NM_173075,NM_001166054,NM_004307,NM_001166050,NM_001166052,NM_001166051 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 EXON Missense_R191Q,Missense_R717Q,Missense_R191Q,Missense_R740Q,Missense_R739Q,Missense_R191Q,Missense_R191Q exm396361 4 40818179 [T/C] NM_001166053,NM_173075,NM_001166054,NM_004307,NM_001166050,NM_001166052,NM_001166051 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 EXON Missense_N188S,Missense_N714S,Missense_N188S,Missense_N737S,Missense_N736S,Missense_N188S,Missense_N188S rs4861067 4 40823454 [T/G] NM_001166053,NM_173075,NM_001166054,NM_004307,NM_001166050,NM_001166052,NM_001166051 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm396371 4 40823962 [A/G] NM_001166053,NM_173075,NM_001166054,NM_004307,NM_001166050,NM_001166052,NM_001166051 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 EXON Missense_R131C,Missense_R657C,Missense_R131C,Missense_R680C,Missense_R679C,Missense_R131C,Missense_R131C exm2241001 4 40827939 [T/C] NM_001166053,NM_173075,NM_001166054,NM_004307,NM_001166050,NM_001166052,NM_001166051 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 EXON Missense_Q45R,Missense_Q571R,Missense_Q45R,Missense_Q594R,Missense_Q593R,Missense_Q45R,Missense_Q45R exm396378 4 40827943 [T/C] NM_001166053,NM_173075,NM_001166054,NM_004307,NM_001166050,NM_001166052,NM_001166051 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 EXON Missense_V44M,Missense_V570M,Missense_V44M,Missense_V593M,Missense_V592M,Missense_V44M,Missense_V44M variant.80681 4 40827986 [T/C] NM_001166053,NM_173075,NM_001166054,NM_004307,NM_001166050,NM_001166052,NM_001166051 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 EXON Synonymous_V29V,Silent,Synonymous_V29V,Synonymous_V578V,Synonymous_V577V,Synonymous_V29V,Synonymous_V29V rs7666964 4 40836953 [A/G] NM_001166053,NM_173075,NM_001166054,NM_004307,NM_001166050,NM_001166052,NM_001166051 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs13135802 4 40839813 [T/C] NM_001166053,NM_173075,NM_001166054,NM_004307,NM_001166050,NM_001166052,NM_001166051 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs765850 4 40842367 [T/C] NM_001166053,NM_173075,NM_001166054,NM_004307,NM_001166050,NM_001166052,NM_001166051 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs719379 4 40842901 [T/C] NM_001166053,NM_173075,NM_001166054,NM_004307,NM_001166050,NM_001166052,NM_001166051 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10517551 4 40843288 [A/G] NM_001166053,NM_173075,NM_001166054,NM_004307,NM_001166050,NM_001166052,NM_001166051 APBB2,APBB2,APBB2,APBB2,APBB2,APBB2,APBB2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2465544 4 40860553 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs2437320 4 40867805 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs13132027 4 40881353 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs6817509 4 40885144 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs17442189 4 40886139 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent exm396391 4 40892489 [T/A] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_I452N,Missense_I474N,Missense_I473N rs11737809 4 40895018 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs6849533 4 40895132 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent exm2241002 4 40895370 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_G416D,Missense_G438D,Missense_G437D rs6843173 4 40905726 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs13102449 4 40917488 [T/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs10938442 4 40917734 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs7690478 4 40928213 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs11733857 4 40931712 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs4861070 4 40933286 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent variant.80683 4 40946877 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent exm396401 4 40946884 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_E347K,Missense_E348K,Missense_E347K exm396408 4 40946971 [C/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_E318Q,Missense_E319Q,Missense_E318Q rs4861073 4 40949691 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs3935357 4 40951828 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs7658815 4 40953139 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs7697609 4 40956574 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs6855534 4 40967236 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs4501254 4 40973476 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs1032984 4 40982744 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs10938478 4 40989048 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs1396110 4 40989826 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs10024411 4 40991885 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs6824724 4 40994063 [A/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent exm396417 4 41015611 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_P275L,Missense_P275L,Missense_P275L indel.80686 4 41015717 [I/D] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 EXON exm396436 4 41015866 [T/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_S190Y,Missense_S190Y,Missense_S190Y exm396438 4 41015884 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_G184E,Missense_G184E,Missense_G184E exm396439 4 41015899 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_R179Q,Missense_R179Q,Missense_R179Q exm396440 4 41015941 [T/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_Y165S,Missense_Y165S,Missense_Y165S exm396441 4 41015942 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_Y165H,Missense_Y165H,Missense_Y165H exm396449 4 41016255 [T/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 EXON Missense_N60K,Missense_N60K,Missense_N60K variant.80687 4 41016311 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 EXON Nonsense_R42X,Nonsense_R42X,Nonsense_R42X rs10033248 4 41030604 [A/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs11943259 4 41056241 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs6831604 4 41061049 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs13130182 4 41066388 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs13129535 4 41074389 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs7692276 4 41076426 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs1508067 4 41078183 [A/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs9994615 4 41091835 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs10031772 4 41099333 [T/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs7679772 4 41104347 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs1110281 4 41136788 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs2880169 4 41140233 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs7688017 4 41153134 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs7685881 4 41160956 [A/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs7683197 4 41175148 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs7659645 4 41181161 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs10022718 4 41186226 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs16852895 4 41190108 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent exm2269745 4 41200522 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs7683746 4 41203125 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs4634261 4 41205240 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs12503156 4 41205611 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs17443388 4 41207624 [T/C] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs7662463 4 41212540 [A/G] NM_173075,NM_004307,NM_001166050 APBB2,APBB2,APBB2 Silent,Silent,Silent rs17528008 4 41220288 [A/G] rs10938677 4 41222917 [T/C] rs13101324 4 41225831 [T/C] rs10019509 4 41247773 [T/C] rs7693827 4 41254862 [T/C] exm396485 4 41263776 [A/C] NM_004181 UCHL1 EXON Missense_M124L exm396487 4 41263813 [A/G] NM_004181 UCHL1 EXON Missense_N136S rs3775256 4 41266295 [T/C] NM_004181 UCHL1 Silent rs11945108 4 41283279 [T/C] rs2219001 4 41291573 [T/C] rs11724596 4 41308656 [T/C] rs11735648 4 41319962 [A/C] rs1377345 4 41322070 [A/G] rs9637557 4 41340526 [T/C] rs6447057 4 41343706 [T/C] rs11721727 4 41346808 [A/G] rs6834482 4 41359965 [T/C] exm396504 4 41362924 [A/G] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 EXON Missense_A23T,Missense_A23T,Missense_A23T rs11735207 4 41378712 [T/C] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent rs7670762 4 41396631 [A/C] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent rs13118239 4 41406510 [A/G] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent rs6447066 4 41407668 [A/G] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent rs10938151 4 41411891 [A/G] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent rs7675059 4 41430052 [A/G] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent rs4560447 4 41447510 [T/G] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent rs4507392 4 41462412 [T/C] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent rs6852190 4 41472234 [T/G] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent rs4349633 4 41485212 [A/G] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent rs13140281 4 41496140 [A/G] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent rs4392535 4 41513423 [A/G] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent rs7671360 4 41521194 [T/C] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent rs6447085 4 41532328 [A/G] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent exm2265832 4 41554364 [A/G] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent rs10007810 4 41554364 [A/G] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent rs6850988 4 41572048 [A/C] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent rs6447096 4 41592743 [T/C] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent exm2074331 4 41600957 [A/G] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 EXON Synonymous_L86L,Synonymous_L86L,Synonymous_L86L var_4_41608026 4 41608026 [T/C] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent rs10938153 4 41612137 [A/C] NM_014988,NM_001112718,NM_001112717 LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent exm396529 4 41615533 [A/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Nonsense_Y179X,Nonsense_Y179X,Nonsense_Y179X,Nonsense_Y25X,Nonsense_Y25X exm396531 4 41615579 [T/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_R195C,Missense_R195C,Missense_R195C,Missense_R41C,Missense_R41C exm396533 4 41615585 [A/G] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_G197S,Missense_G197S,Missense_G197S,Missense_G43S,Missense_G43S exm2256611 4 41639516 [A/G] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent,Silent,Silent rs6830246 4 41639999 [T/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent,Silent,Silent rs4861123 4 41642833 [A/G] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent,Silent,Silent indel.80693 4 41648188 [I/D] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON exm396572 4 41648248 [A/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_S403R,Missense_S403R,Missense_S403R,Missense_S237R,Missense_S249R exm396575 4 41648507 [A/G] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_R421Q,Missense_R421Q,Missense_R421Q,Missense_R255Q,Missense_R267Q exm396580 4 41648620 [T/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_R459C,Missense_R459C,Missense_R459C,Missense_R293C,Missense_R305C exm396585 4 41648767 [A/G] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_A508T,Missense_A508T,Missense_A508T,Missense_A342T,Missense_A354T exm396587 4 41648825 [T/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_T527I,Missense_T527I,Missense_T527I,Missense_T361I,Missense_T373I exm396594 4 41652414 [A/G] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_D557G,Missense_D557G,Missense_D557G,Missense_D391G,Missense_D403G exm396596 4 41652426 [G/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_S561T,Missense_S561T,Missense_S561T,Missense_S395T,Missense_S407T exm396600 4 41652521 [A/G] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_E593K,Missense_E593K,Missense_E593K,Missense_E427K,Missense_E439K rs6447103 4 41657672 [A/G] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent,Silent,Silent rs6821712 4 41659486 [A/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent,Silent,Silent exm396607 4 41663489 [A/G] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_G645E,Missense_G645E,Missense_G645E,Missense_G479E,Missense_G491E indel.80694 4 41663502 [I/D] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON exm396608 4 41663522 [T/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_S656L,Missense_S656L,Missense_S656L,Missense_S490L,Missense_S502L exm396611 4 41664868 [A/G] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_R668Q,Missense_R668Q,Missense_R668Q,Missense_R502Q,Missense_R514Q exm396617 4 41664903 [T/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_S680P,Missense_S680P,Missense_S680P,Missense_S514P,Missense_S526P exm396621 4 41664970 [A/G] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_S702N,Missense_S702N,Missense_S702N,Missense_S536N,Missense_S548N exm396624 4 41668612 [T/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_T724M,Missense_T724M,Missense_T724M,Missense_T558M,Missense_T570M exm396627 4 41668651 [A/G] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_N737S,Missense_N737S,Missense_N737S,Missense_N571S,Missense_N583S rs7671106 4 41669804 [T/G] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent,Silent,Silent exm396630 4 41673604 [T/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_M759T,Missense_M759T,Missense_M759T,Missense_M593T,Missense_M605T exm396631 4 41673609 [T/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_P761S,Missense_P761S,Missense_P761S,Missense_P595S,Missense_P607S exm396642 4 41683026 [A/G] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_A839T,Missense_A838T,Missense_A839T,Missense_A672T,Missense_A684T exm396646 4 41683047 [T/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_S846P,Missense_S845P,Missense_S846P,Missense_S679P,Missense_S691P exm396655 4 41686520 [T/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_P934S,Missense_P933S,Missense_P934S,Missense_P767S,Missense_P779S exm2074389 4 41687764 [A/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_H951Q,Missense_H950Q,Missense_H951Q,Missense_H784Q,Missense_H796Q exm396661 4 41687843 [T/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Missense_R978W,Missense_R977W,Missense_R978W,Missense_R811W,Missense_R823W rs2304652 4 41687911 [A/G] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 Silent,Silent,Silent,Silent,Silent variant.80695 4 41689867 [T/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Nonsense_R983X,Silent,Silent,Silent,Silent rs1061597 4 41691601 [T/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Synonymous_A1024A,Synonymous_A997A,Synonymous_A998A,Synonymous_A831A,Synonymous_A843A exm2074402 4 41694392 [T/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Nonsense_R1073X,Nonsense_R1046X,Nonsense_R1047X,Nonsense_R880X,Nonsense_R892X variant.80696 4 41694392 [T/C] NM_014988,NM_001112718,NM_001112717,NM_001112720,NM_001112719 LIMCH1,LIMCH1,LIMCH1,LIMCH1,LIMCH1 EXON Nonsense_R1073X,Nonsense_R1046X,Nonsense_R1047X,Nonsense_R880X,Nonsense_R892X rs6817913 4 41711689 [A/G] rs9990806 4 41714272 [A/G] rs1371301 4 41714627 [T/C] rs11731281 4 41736897 [A/C] rs6826373 4 41746460 [T/C] NM_003924 PHOX2B EXON Silent rs16853571 4 41753130 [A/C] rs1122992 4 41763403 [T/C] rs11729701 4 41764707 [T/C] rs6842806 4 41766595 [T/C] rs1439475 4 41771365 [T/C] rs5020056 4 41774747 [A/G] rs9999953 4 41782996 [A/G] rs1540499 4 41786214 [T/C] rs9997912 4 41790600 [A/G] rs1898889 4 41793898 [T/C] rs6834302 4 41805686 [T/C] rs2043904 4 41807737 [A/G] rs7664468 4 41812109 [A/G] rs733778 4 41819608 [A/G] exm2269915 4 41833487 [T/C] rs6838275 4 41841334 [A/C] rs6839810 4 41850006 [T/C] rs6447118 4 41855573 [T/G] rs9993759 4 41883483 [T/C] rs7660832 4 41889667 [A/G] rs16853775 4 41940132 [A/C] NM_018126 TMEM33 Silent exm396714 4 41941247 [T/G] NM_018126 TMEM33 EXON Missense_L59V indel.80700 4 41956149 [I/D] NM_018126 TMEM33 EXON exm396733 4 41956181 [A/G] NM_018126 TMEM33 EXON Missense_A237T rs1043343 4 41962491 [A/C] NM_018126 TMEM33 EXON Silent exm396743 4 41983841 [A/G] NM_001029955 DCAF4L1 EXON Missense_E11G exm396745 4 41983864 [A/G] NM_001029955 DCAF4L1 EXON Missense_A19T exm2074437 4 41983886 [T/C] NM_001029955 DCAF4L1 EXON Missense_S26F exm396757 4 41984395 [A/G] NM_001029955 DCAF4L1 EXON Missense_A196T exm396768 4 41984759 [A/G] NM_001029955 DCAF4L1 EXON Missense_Y317C exm396788 4 41992715 [T/C] NM_006345 SLC30A9 EXON Missense_S16F exm396794 4 42003671 [A/G] NM_006345 SLC30A9 EXON Missense_M50V exm396795 4 42003677 [T/C] NM_006345 SLC30A9 EXON Missense_P52S exm396798 4 42003768 [T/G] NM_006345 SLC30A9 EXON Missense_R82I exm396799 4 42003775 [T/A] NM_006345 SLC30A9 EXON Missense_E84D exm396804 4 42020142 [A/G] NM_006345 SLC30A9 EXON Missense_T97A exm396808 4 42022439 [T/C] NM_006345 SLC30A9 EXON Missense_A114V exm396819 4 42025372 [A/G] NM_006345 SLC30A9 EXON Missense_R194H rs9291209 4 42033153 [T/C] NM_006345 SLC30A9 Silent exm396823 4 42051452 [A/G] NM_006345 SLC30A9 EXON Missense_M266V rs10938175 4 42066378 [A/G] NM_006345 SLC30A9 Silent exm396839 4 42072544 [A/C] NM_006345 SLC30A9 EXON Synonymous_G418G rs6447123 4 42078241 [A/G] NM_006345 SLC30A9 Silent rs11051 4 42089177 [A/G] NM_006345 SLC30A9 EXON Silent rs4861163 4 42117173 [T/C] NM_001159547,NM_207406 BEND4,BEND4 EXON Silent,Silent exm396857 4 42119584 [G/C] NM_001159547,NM_207406 BEND4,BEND4 EXON Silent,Missense_S519C rs16854027 4 42120105 [A/G] NM_001159547,NM_207406 BEND4,BEND4 Silent,Silent exm396867 4 42122289 [T/C] NM_001159547,NM_207406 BEND4,BEND4 EXON Missense_N390S,Missense_N390S exm396874 4 42145534 [T/C] NM_001159547,NM_207406 BEND4,BEND4 EXON Missense_Y322C,Missense_Y322C exm396883 4 42145639 [A/G] NM_001159547,NM_207406 BEND4,BEND4 EXON Missense_V287A,Missense_V287A exm396884 4 42145667 [A/C] NM_001159547,NM_207406 BEND4,BEND4 EXON Missense_D278Y,Missense_D278Y exm396890 4 42145806 [T/C] NM_001159547,NM_207406 BEND4,BEND4 EXON Missense_I231M,Missense_I231M exm396897 4 42145937 [A/G] NM_001159547,NM_207406 BEND4,BEND4 EXON Missense_L188F,Missense_L188F exm396898 4 42146005 [T/C] NM_001159547,NM_207406 BEND4,BEND4 EXON Missense_R165Q,Missense_R165Q rs6848386 4 42146657 [T/C] NM_001159547,NM_207406 BEND4,BEND4 Silent,Silent rs6447133 4 42161427 [T/C] rs7672382 4 42174810 [A/G] rs6827980 4 42183596 [A/G] rs7674997 4 42206574 [T/C] rs9999533 4 42211367 [T/C] rs4861168 4 42218575 [T/C] exm2265694 4 42221342 [A/G] rs13117610 4 42226924 [A/G] rs17530621 4 42227497 [T/G] rs4861175 4 42237898 [A/G] rs729467 4 42241138 [A/G] rs729179 4 42241485 [T/G] rs989313 4 42243086 [A/C] rs17530831 4 42250342 [T/C] rs4861178 4 42251630 [A/G] rs17530845 4 42253010 [A/G] rs1542686 4 42256594 [A/G] rs2171423 4 42276583 [A/G] rs4861181 4 42281042 [T/C] rs6823142 4 42291959 [A/C] rs10026772 4 42301184 [A/G] rs3103190 4 42322946 [A/G] rs2632690 4 42326229 [T/G] rs748360 4 42331579 [T/C] rs1023993 4 42336312 [A/C] rs1565111 4 42344051 [T/C] rs9291216 4 42368901 [T/C] rs923309 4 42376356 [T/G] rs3103207 4 42376769 [T/C] rs3109630 4 42377390 [A/G] rs2719947 4 42384915 [A/G] rs11735318 4 42394408 [T/G] exm396925 4 42403140 [T/C] NM_001080505 SHISA3 EXON Missense_S130L exm396929 4 42403232 [G/C] NM_001080505 SHISA3 EXON Missense_Q161E exm396939 4 42403332 [T/C] NM_001080505 SHISA3 EXON Missense_P194L exm396942 4 42403343 [A/C] NM_001080505 SHISA3 EXON Missense_T198P exm396945 4 42403395 [A/G] NM_001080505 SHISA3 EXON Missense_Q215R rs3935448 4 42423197 [A/G] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs9994372 4 42428210 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs7665008 4 42431550 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs7688175 4 42432089 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs7695984 4 42433734 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs7684005 4 42449874 [T/G] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs10517025 4 42453253 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs13139219 4 42453303 [A/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent exm396981 4 42457348 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON Missense_K928R,Missense_K913R exm396987 4 42457561 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON Missense_C892Y,Missense_C877Y rs12647640 4 42466641 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent exm396991 4 42466813 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON Missense_K838R,Missense_K823R exm2256613 4 42466943 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON Synonymous_Q825Q,Synonymous_Q810Q rs10000708 4 42475352 [T/G] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs3935029 4 42484396 [A/G] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent variant.80718 4 42487513 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON Missense_R775Q,Missense_R760Q indel.80719 4 42487612 [D/I] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON exm396996 4 42487633 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON Missense_R735Q,Missense_R720Q exm396997 4 42487652 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON Missense_T729A,Missense_T714A exm2256614 4 42509067 [A/G] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON Synonymous_L684L,Synonymous_L669L exm397004 4 42509101 [A/G] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON Missense_T673M,Missense_T658M rs6819929 4 42511312 [A/G] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs4526008 4 42517211 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent variant.80721 4 42524172 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent exm397011 4 42524247 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON Missense_Y626C,Missense_Y611C exm397015 4 42545953 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON Missense_R568Q,Missense_R553Q exm397016 4 42545959 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON Missense_K566R,Missense_K551R exm397017 4 42546002 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON Missense_A552T,Missense_A537T exm397019 4 42551031 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON Missense_S551G,Missense_S536G exm397021 4 42551048 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON Missense_N545S,Missense_N530S rs10805104 4 42556540 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent indel.80724 4 42558035 [D/I] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON rs6447170 4 42567615 [A/G] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs1460354 4 42571666 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs2290870 4 42576420 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent exm397035 4 42576646 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON Missense_V429I,Missense_V429I exm397037 4 42576655 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 EXON Missense_I426V,Missense_I426V rs2290868 4 42577517 [A/G] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs1080248 4 42587201 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs3749530 4 42593240 [A/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs9291219 4 42607736 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs10938199 4 42622148 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs2306004 4 42627836 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent exm-rs898500 4 42639186 [A/G] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs898500 4 42639186 [A/G] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs1460362 4 42644312 [A/G] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs6851867 4 42646252 [A/G] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs1380754 4 42646677 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs17448506 4 42648398 [T/C] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent exm2256615 4 42652004 [A/G] NM_006095,NM_001105529 ATP8A1,ATP8A1 Silent,Silent rs2575568 4 42660891 [A/C] rs2612507 4 42661922 [T/C] rs2575484 4 42676234 [A/G] rs882642 4 42683596 [T/C] rs1460352 4 42690604 [A/G] rs7441772 4 42694179 [T/G] rs2612468 4 42706128 [T/C] rs2612533 4 42712114 [T/C] rs2345467 4 42712959 [A/C] rs2575509 4 42723259 [A/G] rs2252994 4 42726868 [T/C] rs2575529 4 42735847 [A/G] rs13146994 4 42748194 [A/G] rs2345904 4 42753188 [A/G] rs2575513 4 42796294 [T/C] rs7697036 4 42797274 [T/C] rs2575514 4 42797768 [A/C] rs1562839 4 42813800 [A/G] rs13130624 4 42817301 [T/C] rs1450917 4 42819241 [A/G] rs1584622 4 42821511 [T/C] rs10470752 4 42825862 [A/G] rs4861040 4 42839254 [A/G] rs4861041 4 42840819 [T/G] rs12642552 4 42847901 [A/C] rs1993059 4 42856894 [A/G] rs9985652 4 42858453 [A/G] rs12643533 4 42858855 [T/C] rs1562837 4 42874286 [A/C] rs1993062 4 42881014 [A/G] rs7655156 4 42883195 [A/C] rs2122651 4 42889160 [T/C] exm397086 4 42895308 [A/G] NM_001080476 GRXCR1 EXON Missense_E9K exm397090 4 42895357 [A/G] NM_001080476 GRXCR1 EXON Missense_S25N exm397095 4 42895423 [T/C] NM_001080476 GRXCR1 EXON Missense_A47V exm397099 4 42895555 [T/G] NM_001080476 GRXCR1 EXON Missense_G91V exm2074643 4 42895614 [T/C] NM_001080476 GRXCR1 EXON Missense_Y111H rs10517057 4 42900562 [A/C] NM_001080476 GRXCR1 Silent rs7656477 4 42902654 [A/G] NM_001080476 GRXCR1 Silent rs1450906 4 42906100 [A/G] NM_001080476 GRXCR1 Silent rs1450911 4 42914565 [A/C] NM_001080476 GRXCR1 Silent rs6830507 4 42919640 [A/G] NM_001080476 GRXCR1 Silent rs7439983 4 42924853 [A/G] NM_001080476 GRXCR1 Silent rs6818868 4 42942050 [T/C] NM_001080476 GRXCR1 Silent rs10517064 4 42943613 [A/C] NM_001080476 GRXCR1 Silent rs6834773 4 42947065 [T/C] NM_001080476 GRXCR1 Silent rs10938227 4 42964453 [A/G] NM_001080476 GRXCR1 Silent variant.80726 4 42964907 [A/G] NM_001080476 GRXCR1 Silent variant.80727 4 42964936 [T/C] NM_001080476 GRXCR1 EXON Missense_R138C exm397107 4 42965002 [A/G] NM_001080476 GRXCR1 EXON Missense_R160G rs2118030 4 42975329 [T/C] NM_001080476 GRXCR1 Silent rs1436478 4 43007627 [T/C] NM_001080476 GRXCR1 Silent rs1545101 4 43019669 [T/C] NM_001080476 GRXCR1 Silent rs10000073 4 43022222 [T/C] NM_001080476 GRXCR1 Silent exm397113 4 43032458 [A/G] NM_001080476 GRXCR1 EXON Missense_M258I variant.80730 4 43032468 [T/C] NM_001080476 GRXCR1 EXON Nonsense_R262X exm397116 4 43032469 [A/G] NM_001080476 GRXCR1 EXON Missense_R262Q rs11736676 4 43041018 [A/G] rs4512035 4 43042976 [A/G] rs9997524 4 43052186 [A/C] rs920152 4 43068604 [T/C] rs7672044 4 43074301 [T/G] rs6850625 4 43082956 [A/C] rs6447224 4 43106517 [T/C] rs12503562 4 43134215 [T/C] rs6857139 4 43136289 [A/G] rs4861254 4 43140284 [A/G] rs10213019 4 43147514 [A/G] rs13114756 4 43161354 [A/G] rs12646066 4 43162880 [T/C] rs13120255 4 43165259 [A/G] rs10009982 4 43165682 [T/C] rs13113494 4 43181231 [T/G] rs4270612 4 43192298 [A/C] rs13108021 4 43197962 [A/G] rs4290920 4 43205099 [T/C] rs7666204 4 43216821 [T/C] rs10938264 4 43221563 [T/G] rs11932535 4 43226893 [T/C] rs12645109 4 43232462 [A/C] rs4447896 4 43232759 [A/C] rs1442864 4 43246631 [A/G] rs12500109 4 43252905 [A/G] rs10938268 4 43254582 [A/G] rs17595833 4 43285567 [T/C] rs11730763 4 43293318 [T/C] rs12505465 4 43296814 [T/C] rs10029778 4 43305896 [T/C] rs12510088 4 43324563 [T/C] exm2256620 4 43328707 [T/C] rs6828560 4 43328707 [T/C] rs6854231 4 43344992 [T/C] rs671254 4 43394110 [T/C] rs599290 4 43410470 [T/C] rs17639240 4 43424930 [T/G] rs654313 4 43428426 [T/C] rs2347044 4 43432922 [T/C] rs9994327 4 43440641 [A/G] rs528582 4 43442648 [T/C] rs6447273 4 43481992 [T/C] rs7694215 4 43484250 [T/C] exm2269917 4 43485769 [T/C] rs7655719 4 43493880 [T/C] rs13136012 4 43523444 [A/G] rs9992804 4 43526808 [A/G] rs16856147 4 43533668 [T/C] rs13130255 4 43537600 [T/G] rs6816987 4 43564831 [T/C] rs6447283 4 43595446 [T/C] rs9291237 4 43599872 [A/G] rs2013357 4 43634967 [A/C] rs985774 4 43635055 [A/G] rs16856334 4 43654867 [A/C] rs12649203 4 43656260 [A/G] rs13137462 4 43666139 [T/G] rs1713517 4 43689885 [T/G] rs7659996 4 43702376 [T/C] rs1648078 4 43705885 [T/C] rs1369175 4 43714649 [A/G] rs7340999 4 43731044 [T/C] rs1834429 4 43738519 [A/C] rs1369177 4 43739772 [T/C] rs2347347 4 43786489 [A/G] rs4695155 4 43823868 [T/C] rs1460627 4 43827201 [A/G] rs7675193 4 43840138 [A/C] rs2715650 4 43840953 [A/G] rs7660461 4 43857879 [A/C] rs2722136 4 43866979 [T/C] rs1460614 4 43872019 [A/C] rs6834369 4 43888799 [A/G] rs11931045 4 43903247 [A/G] exm2269747 4 43913525 [T/C] rs12513382 4 43914603 [T/C] rs1037855 4 43927834 [A/G] rs4426822 4 43934098 [A/G] rs2881695 4 43951966 [T/C] rs4385106 4 43960180 [T/C] rs1460634 4 43968054 [T/C] rs11942913 4 43986534 [A/G] rs4323141 4 44016954 [A/G] rs4348131 4 44029345 [A/G] rs4695394 4 44041667 [T/C] rs6858778 4 44050101 [A/G] rs7693710 4 44091711 [T/C] rs4695447 4 44093499 [T/G] rs12498358 4 44106293 [A/C] rs7689034 4 44121146 [T/C] rs9996682 4 44137398 [T/C] rs6853456 4 44144150 [T/C] rs6828553 4 44149564 [A/C] rs1027201 4 44167271 [T/C] exm2256622 4 44173205 [A/G] rs10517096 4 44175373 [T/C] exm397126 4 44176853 [T/C] NM_198353 KCTD8 EXON Missense_R459H exm397133 4 44177033 [T/C] NM_198353 KCTD8 EXON Missense_Q399R rs4694999 4 44186433 [A/G] NM_198353 KCTD8 Silent rs17641486 4 44210076 [A/G] NM_198353 KCTD8 Silent rs10028283 4 44218748 [T/C] NM_198353 KCTD8 Silent rs10938330 4 44246039 [T/G] NM_198353 KCTD8 Silent rs11941070 4 44260690 [T/C] NM_198353 KCTD8 Silent rs1948314 4 44280236 [A/G] NM_198353 KCTD8 Silent rs10013818 4 44293409 [T/C] NM_198353 KCTD8 Silent rs3963342 4 44300248 [T/C] NM_198353 KCTD8 Silent rs1490452 4 44308547 [T/C] NM_198353 KCTD8 Silent rs17538903 4 44315428 [T/C] NM_198353 KCTD8 Silent rs17599591 4 44329589 [A/C] NM_198353 KCTD8 Silent rs2703833 4 44341530 [A/G] NM_198353 KCTD8 Silent rs10517102 4 44348032 [T/C] NM_198353 KCTD8 Silent rs6447330 4 44358412 [A/G] NM_198353 KCTD8 Silent rs13132322 4 44363703 [T/C] NM_198353 KCTD8 Silent rs17599994 4 44400111 [T/C] NM_198353 KCTD8 Silent rs11726514 4 44401672 [A/G] NM_198353 KCTD8 Silent rs16856879 4 44407133 [T/C] NM_198353 KCTD8 Silent rs11931753 4 44423496 [A/G] NM_198353 KCTD8 Silent rs4312793 4 44424487 [T/C] NM_198353 KCTD8 Silent rs16856919 4 44435648 [A/C] NM_198353 KCTD8 Silent rs13144404 4 44435685 [T/C] NM_198353 KCTD8 Silent rs16856929 4 44437034 [A/C] NM_198353 KCTD8 Silent rs4419508 4 44443246 [T/C] NM_198353 KCTD8 Silent exm397151 4 44450014 [A/G] NM_198353 KCTD8 EXON Missense_A176V exm397155 4 44450131 [T/A] NM_198353 KCTD8 EXON Missense_F137Y exm2074746 4 44450308 [T/C] NM_198353 KCTD8 EXON Missense_S78N rs4610370 4 44465870 [T/G] rs9291244 4 44466809 [A/G] rs7697982 4 44481810 [A/G] rs1439381 4 44486350 [A/C] rs10019946 4 44520666 [A/G] exm2261718 4 44531148 [A/G] rs6838754 4 44532032 [A/G] rs1439382 4 44536354 [A/G] rs1439389 4 44542952 [T/C] rs11736162 4 44545381 [A/G] rs7684647 4 44549846 [T/C] rs10517108 4 44553869 [T/C] rs1371235 4 44557599 [T/C] rs6858760 4 44564747 [A/G] rs10938353 4 44582487 [A/G] rs13138228 4 44592060 [A/C] rs11725120 4 44603369 [T/G] rs17571930 4 44607572 [A/G] rs6844093 4 44610348 [T/C] rs16857230 4 44613461 [A/G] exm397178 4 44624550 [A/C] NM_182592 YIPF7 EXON Missense_C242G rs1439377 4 44628607 [T/C] NM_182592 YIPF7 Silent indel.80731 4 44631448 [I/D] NM_182592 YIPF7 EXON indel.80732 4 44637929 [I/D] NM_182592 YIPF7 variant.80734 4 44637976 [T/G] NM_182592 YIPF7 EXON Nonsense_Y105X exm397195 4 44638017 [A/G] NM_182592 YIPF7 EXON Nonsense_Q92X rs6447363 4 44648797 [A/G] NM_182592 YIPF7 Silent variant.80736 4 44652000 [A/C] NM_182592 YIPF7 Silent exm397205 4 44652030 [T/C] NM_182592 YIPF7 EXON Missense_A54T rs17600990 4 44656408 [T/C] rs12639722 4 44660248 [T/C] exm397211 4 44680658 [T/C] NM_021927 GUF1 EXON Missense_R7W exm397218 4 44682465 [T/C] NM_021927 GUF1 EXON Missense_L58P exm397221 4 44682716 [A/G] NM_021927 GUF1 EXON Missense_I95V variant.80740 4 44682767 [T/C] NM_021927 GUF1 EXON Nonsense_R112X exm397223 4 44682768 [A/G] NM_021927 GUF1 EXON Missense_R112Q exm397225 4 44682831 [A/G] NM_021927 GUF1 EXON Missense_Q133R exm397227 4 44683156 [T/G] NM_021927 GUF1 EXON Missense_S148I exm2241039 4 44684357 [C/G] NM_021927 GUF1 EXON Missense_Q172E exm397228 4 44684396 [A/G] NM_021927 GUF1 EXON Missense_A185T exm397237 4 44685328 [G/C] NM_021927 GUF1 EXON Missense_C221S exm397240 4 44688041 [A/G] NM_021927 GUF1 Silent exm397245 4 44688593 [A/T] NM_021927 GUF1 EXON Missense_R267S exm397246 4 44688621 [A/G] NM_021927 GUF1 EXON Missense_D277N newrs191387645 4 44688731 [T/G] NM_021927 GUF1 Silent indel.80746 4 44691305 [D/I] NM_021927 GUF1 EXON variant.80748 4 44691859 [A/G] NM_021927 GUF1 Silent variant.80749 4 44691903 [T/C] NM_021927 GUF1 EXON Nonsense_R416X exm2241040 4 44691907 [A/T] NM_021927 GUF1 EXON Missense_L417Q indel.80754 4 44692867 [I/D] NM_021927 GUF1 EXON exm397277 4 44693710 [A/G] NM_021927 GUF1 EXON Missense_I503V exm397283 4 44696454 [G/C] NM_021927 GUF1 EXON Missense_Q547E exm2274005 4 44697642 [T/C] NM_021927 GUF1 EXON Missense_H576Y exm397295 4 44699447 [A/G] NM_021927 GUF1 EXON Missense_V620I exm397303 4 44700622 [A/G] NM_021927 GUF1 EXON Missense_K645R exm2274006 4 44700642 [A/G] NM_021927 GUF1 EXON Missense_V652I exm2074809 4 44700672 [A/G] NM_021927 GUF1 EXON Missense_V662I variant.80759 4 44709768 [A/C] NM_001270881,NR_073095,NR_073094,NM_138335,NM_001270880 GNPDA2,GNPDA2,GNPDA2,GNPDA2,GNPDA2 Silent,Silent,Silent,Silent,Silent rs1547525 4 44710346 [A/G] NM_001270881,NR_073095,NR_073094,NM_138335,NM_001270880 GNPDA2,GNPDA2,GNPDA2,GNPDA2,GNPDA2 Silent,Silent,Silent,Silent,Silent exm397319 4 44712970 [T/C] NM_001270881,NR_073095,NR_073094,NM_138335,NM_001270880 GNPDA2,GNPDA2,GNPDA2,GNPDA2,GNPDA2 EXON Synonymous_E128E,Silent,Silent,Synonymous_E198E,Synonymous_E164E exm397321 4 44713017 [T/C] NM_001270881,NR_073095,NR_073094,NM_138335,NM_001270880 GNPDA2,GNPDA2,GNPDA2,GNPDA2,GNPDA2 EXON Missense_T113A,Silent,Silent,Missense_T183A,Missense_T149A exm397329 4 44724158 [A/G] NM_001270881,NR_073095,NR_073094,NM_138335,NM_001270880 GNPDA2,GNPDA2,GNPDA2,GNPDA2,GNPDA2 EXON Silent,Silent,Silent,Missense_R23C,Missense_R23C rs2046909 4 44770222 [A/C] rs1491313 4 44785389 [T/G] rs6845593 4 44803683 [A/G] rs7673194 4 44804733 [A/G] rs11943498 4 44826773 [T/C] exm2265697 4 44832274 [A/G] rs17601614 4 44852361 [A/G] rs1497008 4 44859443 [T/C] rs10517119 4 44859711 [A/G] rs10517120 4 44859761 [T/C] rs6835058 4 44864639 [T/C] rs4694786 4 44868270 [A/G] rs4694787 4 44868481 [A/G] rs6810444 4 44870978 [T/C] rs10019381 4 44897864 [T/G] rs7692626 4 44897911 [A/C] rs7675825 4 44904578 [T/C] rs10938371 4 44905275 [T/C] rs1107676 4 44906396 [T/G] rs11932803 4 44918770 [T/C] rs12513234 4 44928851 [A/G] rs17654704 4 44930650 [A/G] rs1472395 4 44935266 [T/G] rs10020374 4 44955964 [T/C] rs1908807 4 44964929 [T/C] rs10021452 4 44982038 [A/G] rs12645733 4 44983208 [T/C] rs6854974 4 44985301 [T/C] rs4560452 4 44989500 [T/C] rs10018053 4 45015525 [T/C] rs13142647 4 45018583 [A/G] rs7442192 4 45023201 [A/G] rs13140100 4 45030609 [A/G] rs10155504 4 45031256 [T/C] rs12643633 4 45041473 [T/G] rs7682029 4 45045543 [T/C] rs6844797 4 45059561 [T/C] rs4306991 4 45068593 [T/C] rs17608635 4 45079676 [A/G] rs16858015 4 45117658 [T/C] rs7689003 4 45125825 [A/G] rs7659184 4 45133240 [A/G] rs6845132 4 45139673 [T/C] exm2256624 4 45164637 [T/G] rs13130484 4 45175691 [T/C] rs16858082 4 45175804 [T/C] exm-rs12641981 4 45179883 [T/C] exm-rs10938397 4 45182527 [A/G] rs1858410 4 45191856 [T/G] rs1392615 4 45224500 [A/G] rs348548 4 45230009 [T/C] rs1500493 4 45254893 [T/C] rs12643061 4 45299977 [T/C] rs4267772 4 45308763 [T/C] rs16858373 4 45321022 [T/C] rs6826745 4 45362545 [T/C] exm-rs10517133 4 45364914 [C/G] rs1476295 4 45374305 [A/G] rs12500516 4 45392037 [T/C] rs1486617 4 45431010 [A/G] rs10020709 4 45441814 [A/G] kgp4289710 4 45443128 [T/C] kgp6180196 4 45443129 [A/G] rs16858604 4 45507374 [T/C] rs1552419 4 45525885 [T/C] rs10034683 4 45548380 [T/G] rs840201 4 45564788 [A/C] rs6829634 4 45612701 [A/G] rs10004397 4 45626526 [A/C] exm2256625 4 45638903 [T/C] rs4694809 4 45640684 [T/G] rs12640483 4 45702046 [T/C] rs1456507 4 45717849 [A/G] rs1456508 4 45720024 [T/C] rs957858 4 45737256 [T/G] rs13123812 4 45772213 [T/C] rs6847304 4 45792228 [T/C] rs2035906 4 45817327 [T/C] rs6826668 4 45839740 [A/G] rs10032936 4 45843672 [A/G] rs1353014 4 45851084 [A/G] rs11721867 4 45858464 [A/G] rs7674482 4 45867461 [T/C] rs7692404 4 45875599 [T/C] rs1353013 4 45896156 [T/C] rs7690208 4 45900199 [T/C] rs9994137 4 45923348 [T/C] rs6817621 4 45929172 [A/G] rs7699135 4 45956676 [T/C] rs13127070 4 45956780 [A/G] rs924837 4 45972653 [A/G] kgp4654163 4 45973069 [T/C] rs4695140 4 45975343 [T/C] rs10014198 4 46027834 [G/C] exm2269750 4 46039478 [T/C] NM_173536 GABRG1 EXON Silent rs7683876 4 46042083 [A/G] NM_173536 GABRG1 EXON Silent exm397332 4 46043025 [T/C] NM_173536 GABRG1 EXON Missense_V460I exm2274007 4 46043120 [G/C] NM_173536 GABRG1 EXON Missense_R428T exm397338 4 46043162 [T/C] NM_173536 GABRG1 EXON Missense_S414N newrs138340978 4 46043178 [A/C] NM_173536 GABRG1 EXON Missense_G409C exm397343 4 46043222 [A/G] NM_173536 GABRG1 EXON Missense_I394T exm397344 4 46043232 [T/C] NM_173536 GABRG1 EXON Missense_M391V rs976156 4 46086060 [T/C] NM_173536 GABRG1 EXON Synonymous_T88T rs13109156 4 46093249 [T/C] NM_173536 GABRG1 Silent rs13120165 4 46101549 [A/G] NM_173536 GABRG1 Silent exm397381 4 46125883 [A/T] NM_173536 GABRG1 EXON Missense_S16R exm2074853 4 46125894 [A/G] NM_173536 GABRG1 EXON Missense_L13F rs6842243 4 46150637 [T/C] rs10033451 4 46152332 [T/C] kgp21013528 4 46152421 [A/C] kgp21277560 4 46153535 [A/G] rs522636 4 46227847 [T/C] rs16859210 4 46236454 [T/C] exm2074856 4 46252603 [T/C] NM_001114175,NM_000807 GABRA2,GABRA2 EXON Missense_V360I,Missense_V360I rs534459 4 46256805 [A/G] NM_001114175,NM_000807 GABRA2,GABRA2 Silent,Silent rs526805 4 46263391 [A/C] NM_001114175,NM_000807 GABRA2,GABRA2 Silent,Silent rs1808851 4 46311447 [T/C] NM_001114175,NM_000807 GABRA2,GABRA2 Silent,Silent rs16859306 4 46315980 [T/C] NM_001114175,NM_000807 GABRA2,GABRA2 Silent,Silent rs183962 4 46316688 [T/C] NM_001114175,NM_000807 GABRA2,GABRA2 Silent,Silent rs279845 4 46329723 [T/A] NM_001114175,NM_000807 GABRA2,GABRA2 Silent,Silent rs9291283 4 46371833 [A/G] NM_001114175,NM_000807 GABRA2,GABRA2 Silent,Silent exm2074872 4 46390698 [T/C] NM_001114175,NM_000807 GABRA2,GABRA2 EXON Missense_N9S,Missense_N9S rs6847731 4 46402152 [A/G] rs10461072 4 46413251 [T/G] rs996129 4 46422329 [T/C] rs4695161 4 46504523 [A/G] rs12508420 4 46524214 [A/G] rs10517161 4 46541559 [A/G] rs10938448 4 46568165 [A/G] rs10938449 4 46625274 [A/G] rs10019070 4 46627357 [A/G] rs10029664 4 46635167 [T/C] exm2265698 4 46685463 [A/G] rs4538458 4 46690369 [A/G] rs6853207 4 46721833 [T/C] rs9790574 4 46734901 [T/C] exm397423 4 46737040 [A/G] NM_130902 COX7B2 EXON Missense_T57I rs4395475 4 46742649 [T/C] NM_130902 COX7B2 Silent rs10938457 4 46759314 [A/G] NM_130902 COX7B2 Silent rs10938458 4 46796836 [A/G] NM_130902 COX7B2 Silent rs4129828 4 46805796 [A/C] NM_130902 COX7B2 Silent rs12503660 4 46838259 [A/C] NM_130902 COX7B2 Silent rs2221854 4 46868162 [A/C] NM_130902 COX7B2 Silent rs10938462 4 46890143 [T/C] NM_130902 COX7B2 Silent rs953380 4 46925813 [A/G] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 EXON Silent,Silent,Silent exm397432 4 46930390 [A/G] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 EXON Missense_S506L,Missense_S436L,Missense_S487L exm397439 4 46930510 [T/C] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 EXON Missense_R466Q,Missense_R396Q,Missense_R447Q rs1028005 4 46941018 [A/G] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 Silent,Silent,Silent rs10015891 4 46957305 [A/G] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 Silent,Silent,Silent rs2221855 4 46961617 [T/G] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 Silent,Silent,Silent rs6844842 4 46963222 [T/C] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 Silent,Silent,Silent exm397446 4 46967050 [A/C] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 EXON Missense_K357N,Missense_K287N,Missense_K338N exm397447 4 46967058 [T/C] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 EXON Missense_T355A,Missense_T285A,Missense_T336A exm2074896 4 46967070 [T/C] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 EXON Missense_A351T,Missense_A281T,Missense_A332T exm397479 4 46995366 [T/G] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 EXON Missense_L26M,Silent,Silent exm397480 4 46995387 [T/C] NM_000809,NM_001204267,NM_001204266 GABRA4,GABRA4,GABRA4 EXON Missense_A19T,Silent,Silent rs13151759 4 46995653 [T/G] NM_000809 GABRA4 EXON Silent rs6447520 4 47002378 [T/C] rs1512144 4 47004037 [A/G] rs13139021 4 47006399 [T/C] rs4521322 4 47018520 [T/C] exm397487 4 47033936 [A/G] NM_000812 GABRB1 EXON Missense_N29S rs4574382 4 47047786 [A/G] NM_000812 GABRB1 Silent exm2269751 4 47052626 [T/C] NM_000812 GABRB1 Silent rs4600895 4 47069259 [A/C] NM_000812 GABRB1 Silent rs4694834 4 47079408 [A/G] NM_000812 GABRB1 Silent rs4396968 4 47089184 [T/C] NM_000812 GABRB1 Silent rs1866990 4 47101223 [A/G] NM_000812 GABRB1 Silent rs10517178 4 47102993 [T/C] NM_000812 GABRB1 Silent rs971354 4 47103115 [A/G] NM_000812 GABRB1 Silent rs1442097 4 47150997 [T/C] NM_000812 GABRB1 Silent rs6827925 4 47156545 [A/G] NM_000812 GABRB1 Silent rs11940530 4 47167315 [T/C] NM_000812 GABRB1 Silent rs2119779 4 47175700 [T/C] NM_000812 GABRB1 Silent rs6839998 4 47211774 [T/G] NM_000812 GABRB1 Silent rs1372498 4 47226204 [A/G] NM_000812 GABRB1 Silent rs1372499 4 47226436 [A/G] NM_000812 GABRB1 Silent rs17539445 4 47231416 [T/G] NM_000812 GABRB1 Silent rs7695365 4 47243813 [T/C] NM_000812 GABRB1 Silent rs2078610 4 47289054 [T/G] NM_000812 GABRB1 Silent rs4396966 4 47291135 [T/C] NM_000812 GABRB1 Silent rs6284 4 47322219 [A/C] NM_000812 GABRB1 EXON Synonymous_I179I rs7660843 4 47325991 [A/C] NM_000812 GABRB1 Silent rs7665508 4 47347289 [A/G] NM_000812 GABRB1 Silent rs4588429 4 47350872 [A/G] NM_000812 GABRB1 Silent rs6832172 4 47359371 [A/G] NM_000812 GABRB1 Silent rs6848790 4 47365544 [T/C] NM_000812 GABRB1 Silent rs10517184 4 47367125 [A/G] NM_000812 GABRB1 Silent rs4695224 4 47375627 [A/C] NM_000812 GABRB1 Silent rs7439087 4 47397000 [T/C] NM_000812 GABRB1 Silent rs3822113 4 47406635 [T/C] NM_000812 GABRB1 Silent rs6289 4 47408709 [A/G] NM_000812 GABRB1 EXON Synonymous_T282T exm397524 4 47408896 [A/G] NM_000812 GABRB1 EXON Missense_D345N rs10155404 4 47421325 [A/G] NM_000812 GABRB1 Silent exm397536 4 47427873 [C/G] NM_000812 GABRB1 EXON Missense_H421Q exm397537 4 47427887 [A/G] NM_000812 GABRB1 EXON Missense_K426R exm2265835 4 47430927 [A/G] rs4403019 4 47435315 [T/C] rs4450898 4 47436404 [A/G] rs10020578 4 47450445 [A/G] exm397548 4 47455086 [A/G] NM_017845 COMMD8 EXON Missense_A174V exm397550 4 47455099 [A/G] NM_017845 COMMD8 EXON Nonsense_Q170X exm397551 4 47455100 [T/C] NM_017845 COMMD8 EXON Missense_I169M exm397553 4 47455135 [T/C] NM_017845 COMMD8 EXON Missense_I158V exm397558 4 47455197 [T/C] NM_017845 COMMD8 EXON Missense_R137Q indel.80771 4 47455220 [D/I] NM_017845 COMMD8 EXON exm2074945 4 47455227 [A/G] NM_017845 COMMD8 EXON Missense_A127V exm397562 4 47462210 [A/C] NM_017845 COMMD8 EXON Missense_I58S exm397569 4 47462309 [T/G] NM_017845 COMMD8 EXON Missense_H25P rs4585276 4 47467186 [T/G] rs4508853 4 47485111 [T/C] rs6813123 4 47503661 [T/C] NM_020453 ATP10D Silent exm2256629 4 47504161 [T/G] NM_020453 ATP10D Silent rs6829033 4 47508540 [A/C] NM_020453 ATP10D Silent exm397580 4 47514660 [A/G] NM_020453 ATP10D EXON Missense_A35T exm397581 4 47514685 [T/C] NM_020453 ATP10D EXON Missense_T43I exm2074959 4 47514778 [A/G] NM_020453 ATP10D EXON Missense_N74S variant.80772 4 47514780 [T/C] NM_020453 ATP10D EXON Nonsense_R75X exm397590 4 47525054 [T/C] NM_020453 ATP10D EXON Missense_C171R exm397593 4 47525087 [T/C] NM_020453 ATP10D EXON Missense_R182C exm397594 4 47525088 [A/G] NM_020453 ATP10D EXON Missense_R182H rs6817661 4 47526473 [T/G] NM_020453 ATP10D Silent exm397601 4 47527628 [A/G] NM_020453 ATP10D EXON Missense_N249D rs9999398 4 47533601 [A/G] NM_020453 ATP10D Silent rs7674353 4 47533838 [T/C] NM_020453 ATP10D Silent rs12374260 4 47536566 [T/C] NM_020453 ATP10D Silent exm397606 4 47537546 [A/G] NM_020453 ATP10D EXON Missense_R266H exm397608 4 47537548 [A/G] NM_020453 ATP10D EXON Missense_V267M exm397611 4 47537621 [T/C] NM_020453 ATP10D EXON Missense_V291A exm397618 4 47537994 [T/C] NM_020453 ATP10D EXON Missense_T320I exm397621 4 47538044 [A/G] NM_020453 ATP10D EXON Missense_A337T exm397628 4 47538725 [A/C] NM_020453 ATP10D EXON Missense_Y389S exm397630 4 47538816 [T/G] NM_020453 ATP10D EXON Missense_Q419H exm397634 4 47538911 [A/G] NM_020453 ATP10D EXON Missense_R451Q rs4296657 4 47541849 [A/G] NM_020453 ATP10D Silent rs12502323 4 47548254 [A/G] NM_020453 ATP10D Silent exm397643 4 47548776 [A/G] NM_020453 ATP10D EXON Missense_N511S exm397644 4 47548810 [A/T] NM_020453 ATP10D EXON Missense_F522L rs13106975 4 47551863 [T/G] NM_020453 ATP10D Silent exm397647 4 47556752 [A/G] NM_020453 ATP10D EXON Missense_V549M exm397651 4 47556908 [A/G] NM_020453 ATP10D EXON Missense_A601T variant.80777 4 47556923 [T/C] NM_020453 ATP10D EXON Nonsense_R606X exm397652 4 47556923 [T/C] NM_020453 ATP10D EXON Nonsense_R606X variant.80779 4 47559759 [T/C] NM_020453 ATP10D EXON Nonsense_R635X exm397656 4 47559760 [A/G] NM_020453 ATP10D EXON Missense_R635Q exm397657 4 47559764 [T/A] NM_020453 ATP10D EXON Missense_R636S exm397662 4 47559850 [G/C] NM_020453 ATP10D EXON Missense_R665P exm397670 4 47560002 [A/C] NM_020453 ATP10D EXON Missense_P716T exm397671 4 47560015 [A/G] NM_020453 ATP10D EXON Missense_N720S rs11729411 4 47560163 [A/C] NM_020453 ATP10D EXON Synonymous_I769I exm2241050 4 47560207 [A/G] NM_020453 ATP10D EXON Missense_R784Q rs4298115 4 47560386 [T/C] NM_020453 ATP10D Silent variant.80780 4 47560987 [T/C] NM_020453 ATP10D EXON Nonsense_Q828X exm397695 4 47563064 [A/G] NM_020453 ATP10D EXON Missense_M880I exm-rs10938494 4 47563448 [A/G] NM_020453 ATP10D Silent rs13127414 4 47567579 [A/G] NM_020453 ATP10D Silent rs6854584 4 47568964 [A/G] NM_020453 ATP10D Silent exm397709 4 47570876 [A/G] NM_020453 ATP10D EXON Missense_S959N exm397710 4 47570881 [A/G] NM_020453 ATP10D EXON Missense_I961V exm397712 4 47570980 [T/C] NM_020453 ATP10D EXON Nonsense_R994X exm397713 4 47570981 [A/G] NM_020453 ATP10D EXON Missense_R994Q exm397720 4 47571089 [A/G] NM_020453 ATP10D EXON Missense_R1030Q rs4694858 4 47571914 [T/C] NM_020453 ATP10D Silent rs10004038 4 47573660 [A/G] NM_020453 ATP10D Silent indel.80783 4 47574970 [I/D] NM_020453 ATP10D EXON rs6840205 4 47577455 [A/G] NM_020453 ATP10D Silent exm397735 4 47578863 [T/C] NM_020453 ATP10D EXON Missense_V1147A exm397736 4 47578880 [T/C] NM_020453 ATP10D EXON Missense_L1153F exm397739 4 47578971 [A/G] NM_020453 ATP10D EXON Missense_R1183K newrs144576632 4 47583983 [T/C] NM_020453 ATP10D EXON Nonsense_Q1219X exm397749 4 47584046 [A/G] NM_020453 ATP10D EXON Missense_V1240I variant.80785 4 47584081 [A/G] NM_020453 ATP10D EXON Synonymous_L1251L rs2351790 4 47589299 [A/C] NM_020453 ATP10D Silent exm2075016 4 47593082 [A/G] NM_020453 ATP10D EXON Missense_G1322E exm397764 4 47593163 [A/G] NM_020453 ATP10D EXON Missense_K1349R exm397769 4 47593283 [C/G] NM_020453 ATP10D EXON Missense_S1389T exm397774 4 47593397 [A/G] NM_020453 ATP10D EXON Missense_X1427W exm397776 4 47597749 [G/C] NM_006587 CORIN EXON Missense_L1040V indel.80787 4 47602258 [I/D] NM_006587 CORIN EXON exm397783 4 47602278 [A/G] NM_006587 CORIN EXON Missense_R967W rs6832495 4 47609664 [A/G] NM_006587 CORIN Silent rs4695256 4 47614900 [A/G] NM_006587 CORIN Silent rs12331639 4 47623275 [A/G] NM_006587 CORIN Silent exm397805 4 47625648 [A/G] NM_006587 CORIN EXON Missense_I827T exm397815 4 47628422 [T/C] NM_006587 CORIN EXON Missense_G772E exm397818 4 47628455 [T/C] NM_006587 CORIN EXON Missense_N761S exm397819 4 47628482 [A/G] NM_006587 CORIN EXON Missense_T752I rs13105718 4 47631983 [A/G] NM_006587 CORIN Silent rs7680097 4 47637456 [T/C] NM_006587 CORIN Silent newrs143992388 4 47643965 [A/G] NM_006587 CORIN EXON Nonsense_Q724X exm397824 4 47643965 [A/G] NM_006587 CORIN EXON Nonsense_Q724X exm397826 4 47644009 [A/G] NM_006587 CORIN EXON Missense_T709I indel.80794 4 47645143 [D/I] NM_006587 CORIN exm397847 4 47655618 [A/G] NM_006587 CORIN EXON Missense_C599R exm397851 4 47655651 [A/G] NM_006587 CORIN EXON Missense_R588C exm397854 4 47663736 [T/C] NM_006587 CORIN EXON Missense_Y576C exm397855 4 47663741 [A/C] NM_006587 CORIN EXON Missense_D574E variant.80795 4 47663753 [T/G] NM_006587 CORIN EXON Nonsense_C570X exm397856 4 47663760 [T/G] NM_006587 CORIN EXON Missense_Q568P exm397857 4 47663799 [A/G] NM_006587 CORIN EXON Missense_T555I exm397859 4 47663848 [A/G] NM_006587 CORIN EXON Missense_R539C indel.80796 4 47667053 [I/D] NM_006587 CORIN EXON exm397864 4 47667064 [T/C] NM_006587 CORIN EXON Missense_H525R exm397871 4 47667263 [T/C] NM_006587 CORIN EXON Missense_T459A rs6815552 4 47669751 [T/C] NM_006587 CORIN Silent rs12643755 4 47674150 [A/G] NM_006587 CORIN Silent newrs187819646 4 47676405 [T/C] NM_006587 CORIN Silent exm397882 4 47679958 [T/C] NM_006587 CORIN EXON Missense_V416I exm397889 4 47682170 [T/C] NM_006587 CORIN EXON Missense_E374K exm2256631 4 47682174 [A/G] NM_006587 CORIN EXON Synonymous_S372S exm397892 4 47682209 [T/C] NM_006587 CORIN EXON Missense_V361M exm397898 4 47682260 [T/G] NM_006587 CORIN EXON Missense_P344T rs13118104 4 47683429 [T/C] NM_006587 CORIN Silent exm2241051 4 47685768 [A/C] NM_006587 CORIN EXON Missense_L334W variant.80798 4 47685815 [T/G] NM_006587 CORIN EXON Nonsense_C318X exm2075067 4 47685843 [T/C] NM_006587 CORIN EXON Missense_N309S rs7661217 4 47688064 [A/G] NM_006587 CORIN Silent exm397903 4 47695017 [A/G] NM_006587 CORIN EXON Missense_C295R rs10517198 4 47705578 [A/G] NM_006587 CORIN Silent rs2352143 4 47722145 [A/G] NM_006587 CORIN Silent rs17601663 4 47735503 [A/G] NM_006587 CORIN Silent rs6849926 4 47742275 [T/G] NM_006587 CORIN Silent rs10008014 4 47745012 [T/C] NM_006587 CORIN Silent exm397915 4 47746602 [T/A] NM_006587 CORIN Silent exm397920 4 47765462 [A/T] NM_006587 CORIN EXON Missense_Y184F rs9996629 4 47775469 [T/C] NM_006587 CORIN Silent exm397930 4 47788772 [A/G] NM_006587 CORIN EXON Missense_L127F exm2274010 4 47788868 [A/C] NM_006587 CORIN EXON Missense_D95Y exm397937 4 47808995 [A/G] NM_006587 CORIN EXON Missense_R45W exm397938 4 47809006 [C/G] NM_006587 CORIN EXON Missense_A41G rs12645164 4 47817004 [A/G] NM_006587 CORIN Silent rs1866688 4 47833809 [T/C] NM_006587 CORIN Silent rs893864 4 47837883 [A/G] NM_006587 CORIN Silent exm397941 4 47839929 [T/C] NM_006587 CORIN EXON Missense_C13Y exm397943 4 47839939 [T/C] NM_006587 CORIN EXON Missense_E10K exm397944 4 47839944 [A/G] NM_006587 CORIN EXON Missense_A8V rs1062858 4 47843628 [T/C] exm397949 4 47850197 [T/C] NM_152995 NFXL1 EXON Missense_T907A exm397950 4 47850293 [T/C] NM_152995 NFXL1 EXON Missense_D875N exm397965 4 47857180 [A/G] NM_152995 NFXL1 EXON Missense_L773F exm397973 4 47880553 [T/C] NM_152995 NFXL1 EXON Missense_G690R exm397981 4 47886407 [A/C] NM_152995 NFXL1 EXON Missense_I624M exm397987 4 47887537 [A/G] NM_152995 NFXL1 EXON Missense_A601V exm397990 4 47887633 [T/C] NM_152995 NFXL1 EXON Missense_R569H exm398001 4 47896274 [G/C] NM_152995 NFXL1 EXON Missense_P459A exm398002 4 47896315 [A/G] NM_152995 NFXL1 EXON Missense_V445A exm398005 4 47898575 [A/G] NM_152995 NFXL1 EXON Missense_R432C variant.80804 4 47899979 [T/C] NM_152995 NFXL1 Silent rs4475122 4 47901259 [A/G] NM_152995 NFXL1 Silent variant.80805 4 47901386 [T/C] NM_152995 NFXL1 Silent exm2277280 4 47901438 [C/G] NM_152995 NFXL1 EXON Missense_R259G exm398022 4 47901476 [A/G] NM_152995 NFXL1 EXON Missense_P246L newrs138029067 4 47905215 [T/C] NM_152995 NFXL1 EXON Nonsense_W214X exm398029 4 47905327 [A/G] NM_152995 NFXL1 EXON Missense_S177L exm398033 4 47907352 [A/G] NM_152995 NFXL1 EXON Missense_R140C rs4695306 4 47913127 [T/C] NM_152995 NFXL1 Silent variant.80808 4 47938584 [A/G] NM_000087,NM_001142564 CNGA1,CNGA1 EXON Nonsense_R643X,Nonsense_R712X variant.80809 4 47938626 [A/G] NM_000087,NM_001142564 CNGA1,CNGA1 EXON Nonsense_R629X,Nonsense_R698X indel.80810 4 47938797 [D/I] NM_000087,NM_001142564 CNGA1,CNGA1 EXON exm398062 4 47938801 [T/G] NM_000087,NM_001142564 CNGA1,CNGA1 EXON Nonsense_Y570X,Nonsense_Y639X variant.80811 4 47938971 [A/G] NM_000087,NM_001142564 CNGA1,CNGA1 EXON Nonsense_R514X,Nonsense_R583X exm398066 4 47938971 [A/G] NM_000087,NM_001142564 CNGA1,CNGA1 EXON Nonsense_R514X,Nonsense_R583X indel.80812 4 47939171 [I/D] NM_000087,NM_001142564 CNGA1,CNGA1 EXON exm398074 4 47939187 [A/C] NM_000087,NM_001142564 CNGA1,CNGA1 EXON Missense_W442G,Missense_W511G exm2075123 4 47939240 [T/C] NM_000087,NM_001142564 CNGA1,CNGA1 EXON Missense_R424Q,Missense_R493Q exm398081 4 47939441 [A/G] NM_000087,NM_001142564 CNGA1,CNGA1 EXON Missense_T357I,Missense_T426I exm398083 4 47939468 [T/C] NM_000087,NM_001142564 CNGA1,CNGA1 EXON Missense_K348R,Missense_K417R exm2075127 4 47939480 [T/C] NM_000087,NM_001142564 CNGA1,CNGA1 EXON Missense_R344H,Missense_R413H exm398087 4 47939552 [A/G] NM_000087,NM_001142564 CNGA1,CNGA1 EXON Missense_S320F,Missense_S389F variant.80816 4 47944053 [A/G] NM_000087,NM_001142564 CNGA1,CNGA1 Silent,Silent exm398111 4 47945295 [T/C] NM_000087,NM_001142564 CNGA1,CNGA1 EXON Missense_D118N,Missense_D187N exm398114 4 47951911 [T/C] NM_000087,NM_001142564 CNGA1,CNGA1 EXON Missense_E80K,Missense_E149K indel.80819 4 47953415 [D/I] NM_000087,NM_001142564 CNGA1,CNGA1 EXON exm398118 4 47953415 [A/C] NM_000087,NM_001142564 CNGA1,CNGA1 EXON Missense_G64V,Missense_G133V exm398122 4 47954624 [T/C] NM_000087,NM_001142564 CNGA1,CNGA1 EXON Missense_R32Q,Missense_R101Q variant.80820 4 47954625 [A/G] NM_000087,NM_001142564 CNGA1,CNGA1 EXON Nonsense_R32X,Nonsense_R101X rs4695318 4 47979063 [A/C] NM_000087,NM_001142564 CNGA1,CNGA1 Silent,Silent rs1507920 4 47984635 [T/C] NM_000087 CNGA1 Silent rs167692 4 47986088 [T/C] NM_000087 CNGA1 Silent rs17654757 4 47990809 [A/C] NM_000087 CNGA1 Silent rs321633 4 48018529 [T/C] exm2075139 4 48027129 [T/C] NM_207330 NIPAL1 EXON Missense_C31R exm398134 4 48027165 [A/C] NM_207330 NIPAL1 EXON Missense_P43T exm398136 4 48027178 [T/C] NM_207330 NIPAL1 EXON Missense_T47M exm398140 4 48027327 [A/G] NM_207330 NIPAL1 EXON Missense_A97T exm398141 4 48027333 [A/G] NM_207330 NIPAL1 EXON Missense_K99E rs11733284 4 48028097 [A/G] NM_207330 NIPAL1 Silent variant.80821 4 48032135 [A/G] NM_207330 NIPAL1 Silent var_4_48032167 4 48032167 [A/G] NM_207330 NIPAL1 EXON Nonsense_W115X variant.80823 4 48032168 [A/G] NM_207330 NIPAL1 EXON Nonsense_W115X variant.80824 4 48032173 [A/G] NM_207330 NIPAL1 EXON Nonsense_W117X variant.80825 4 48032193 [A/C] NM_207330 NIPAL1 EXON Missense_M124L rs10517204 4 48036711 [A/G] NM_207330 NIPAL1 Silent exm398151 4 48037014 [T/A] NM_207330 NIPAL1 EXON Missense_E193V newrs148207193 4 48037577 [A/G] NM_207330 NIPAL1 Silent exm398158 4 48037777 [T/C] NM_207330 NIPAL1 EXON Missense_P274L exm398163 4 48037926 [A/G] NM_207330 NIPAL1 EXON Missense_I324V exm2075150 4 48037975 [A/C] NM_207330 NIPAL1 EXON Missense_T340N exm398174 4 48038098 [A/G] NM_207330 NIPAL1 EXON Missense_N381S exm398176 4 48038163 [A/G] NM_207330 NIPAL1 EXON Missense_T403A rs10938519 4 48038584 [A/G] NM_207330 NIPAL1 EXON Silent rs4695329 4 48044017 [T/C] rs4340770 4 48047367 [A/G] rs6812991 4 48047591 [T/C] rs16860898 4 48050604 [A/G] rs17470528 4 48052003 [T/C] rs6839501 4 48066864 [T/G] rs1567217 4 48068783 [A/G] NM_003328 TXK EXON Silent rs9996535 4 48069725 [A/G] NM_003328 TXK Silent rs906486 4 48073501 [T/G] NM_003328 TXK Silent rs6850108 4 48078593 [A/C] NM_003328 TXK Silent indel.80832 4 48081930 [I/D] NM_003328 TXK EXON exm398198 4 48082095 [T/C] NM_003328 TXK EXON Missense_R336Q rs12647931 4 48083021 [A/G] NM_003328 TXK Silent rs6858664 4 48088446 [A/G] NM_003328 TXK Silent exm2265836 4 48088446 [A/G] NM_003328 TXK Silent exm398201 4 48088500 [T/G] NM_003328 TXK EXON Missense_E313D exm2075172 4 48088534 [T/C] NM_003328 TXK EXON Missense_N302S exm398202 4 48088540 [A/G] NM_003328 TXK EXON Missense_A300V exm398205 4 48091768 [A/G] NM_003328 TXK EXON Synonymous_Y261Y newrs137909725 4 48091824 [A/G] NM_003328 TXK EXON Nonsense_R243X exm398213 4 48096164 [A/C] NM_003328 TXK EXON Missense_W213C exm398221 4 48097227 [A/C] NM_003328 TXK EXON Missense_A172S rs6822209 4 48100497 [A/C] NM_003328 TXK Silent variant.80836 4 48106916 [A/C] NM_003328 TXK Silent newrs145325245 4 48114499 [A/G] NM_003328 TXK EXON Nonsense_R69X exm398241 4 48114517 [A/G] NM_003328 TXK EXON Missense_R63C exm398243 4 48115264 [T/C] NM_003328 TXK EXON Missense_R45H exm2075190 4 48116380 [A/C] NM_003328 TXK EXON Missense_C19F indel.80838 4 48116435 [I/D] NM_003328 TXK rs885443 4 48132891 [A/G] NM_003328 TXK Silent rs11931912 4 48134118 [A/G] NM_003328 TXK Silent exm398250 4 48136181 [C/G] NM_003328 TXK EXON Missense_L3V indel.80839 4 48140789 [I/D] NM_003215 TEC EXON rs17470892 4 48143201 [T/C] NM_003215 TEC Silent rs996223 4 48146864 [A/G] NM_003215 TEC Silent exm398282 4 48147513 [A/G] NM_003215 TEC EXON Missense_W389R exm398283 4 48147546 [T/C] NM_003215 TEC EXON Missense_S378G exm398301 4 48158705 [A/G] NM_003215 TEC EXON Missense_R262C rs2704436 4 48161944 [A/G] NM_003215 TEC Silent rs3792622 4 48164537 [A/G] NM_003215 TEC Silent exm398311 4 48169969 [T/C] NM_003215 TEC EXON Missense_R166Q exm398315 4 48172266 [A/G] NM_003215 TEC EXON Synonymous_S151S exm398321 4 48173453 [A/G] NM_003215 TEC EXON Missense_A86V rs4312730 4 48182433 [T/C] NM_003215 TEC Silent rs4695356 4 48190141 [A/G] NM_003215 TEC Silent rs16861108 4 48192185 [A/G] NM_003215 TEC Silent rs2352593 4 48197767 [A/G] NM_003215 TEC Silent exm2264052 4 48199195 [A/C] NM_003215 TEC Silent rs2457414 4 48201821 [A/C] NM_003215 TEC Silent rs1912163 4 48210653 [T/G] NM_003215 TEC Silent rs1509657 4 48213011 [T/C] NM_003215 TEC Silent rs4694890 4 48226267 [A/C] NM_003215 TEC Silent rs2664017 4 48229886 [A/G] NM_003215 TEC Silent rs2664019 4 48230206 [A/G] NM_003215 TEC Silent rs2704405 4 48234689 [A/G] NM_003215 TEC Silent rs11933797 4 48244736 [A/G] NM_003215 TEC Silent rs12643804 4 48248258 [A/G] NM_003215 TEC Silent rs12507853 4 48252605 [A/G] NM_003215 TEC Silent rs2055800 4 48259598 [T/C] NM_003215 TEC Silent rs1472971 4 48260644 [A/G] NM_003215 TEC Silent rs9994779 4 48269985 [A/G] NM_003215 TEC Silent rs6852406 4 48274152 [A/G] rs380016 4 48296382 [T/C] rs10014431 4 48312390 [A/G] rs4599384 4 48318390 [A/G] rs309875 4 48335265 [T/C] rs411261 4 48354057 [T/C] NM_020846 SLAIN2 Silent rs409911 4 48354515 [T/G] NM_020846 SLAIN2 Silent exm398354 4 48381759 [A/G] NM_020846 SLAIN2 EXON Missense_I252M exm398356 4 48381799 [A/G] NM_020846 SLAIN2 EXON Missense_I266V exm398373 4 48422240 [A/G] NM_020846 SLAIN2 EXON Missense_G487S exm398383 4 48424063 [A/G] NM_020846 SLAIN2 EXON Missense_K572R rs1055721 4 48427773 [A/G] NM_020846 SLAIN2 EXON Silent rs10805168 4 48437360 [T/G] rs4695379 4 48462164 [A/G] rs2353315 4 48462902 [A/C] rs4695383 4 48465495 [A/C] rs745761 4 48473439 [A/G] rs992423 4 48481976 [T/C] variant.80842 4 48486168 [A/G] NM_152679 SLC10A4 EXON Missense_S197N variant.80844 4 48490442 [A/G] NM_152679 SLC10A4 Silent exm2075249 4 48490766 [T/C] NM_152679 SLC10A4 EXON Missense_A375V exm398436 4 48490930 [A/G] NM_152679 SLC10A4 EXON Missense_M430V exm398438 4 48490939 [A/G] NM_152679 SLC10A4 EXON Missense_A433T indel.80845 4 48490948 [D/I] NM_152679 SLC10A4 EXON rs3811759 4 48491010 [A/G] NM_152679 SLC10A4 EXON Silent rs4413478 4 48491651 [A/G] exm398469 4 48493237 [A/G] NM_175619 ZAR1 EXON Missense_S310N var_4_48494865 4 48494865 [I/D] NM_175619 ZAR1 EXON variant.80847 4 48495006 [T/C] NM_175619 ZAR1 EXON Nonsense_R370X exm398481 4 48496243 [G/C] NM_175619 ZAR1 EXON Missense_S419R exm2256634 4 48498290 [T/C] exm398494 4 48502177 [T/C] NM_015030 FRYL EXON Missense_A2885T exm398496 4 48502201 [T/C] NM_015030 FRYL EXON Missense_S2877G exm398497 4 48503659 [A/G] NM_015030 FRYL EXON Missense_T2858M exm398505 4 48512084 [T/C] NM_015030 FRYL EXON Missense_A2796T exm2075271 4 48512101 [T/C] NM_015030 FRYL EXON Missense_N2790S exm398509 4 48512169 [A/C] NM_015030 FRYL EXON Missense_M2767I exm398527 4 48514682 [A/C] NM_015030 FRYL EXON Missense_G2654V exm398528 4 48514703 [T/C] NM_015030 FRYL EXON Missense_Q2647R exm2075277 4 48517084 [G/C] NM_015030 FRYL EXON Missense_R2633T exm398534 4 48517232 [T/C] NM_015030 FRYL EXON Missense_I2584V exm398535 4 48517262 [T/C] NM_015030 FRYL EXON Missense_V2574I exm398552 4 48530238 [T/G] NM_015030 FRYL EXON Missense_S2340Y exm398562 4 48533228 [T/C] NM_015030 FRYL EXON Missense_N2283S exm398578 4 48537706 [T/C] NM_015030 FRYL EXON Missense_T2178A exm398589 4 48542585 [T/C] NM_015030 FRYL EXON Missense_N2027S exm398598 4 48542805 [A/G] NM_015030 FRYL EXON Missense_R1954W exm398600 4 48542895 [G/C] NM_015030 FRYL EXON Missense_P1924A exm398603 4 48544099 [T/C] NM_015030 FRYL EXON Missense_I1878V exm2075314 4 48546009 [A/T] NM_015030 FRYL EXON Missense_I1803F exm2075318 4 48546803 [A/G] NM_015030 FRYL EXON Missense_S1800P exm398616 4 48549607 [A/G] NM_015030 FRYL EXON Missense_F1690L exm398620 4 48549745 [A/G] NM_015030 FRYL EXON Missense_R1644C exm398623 4 48550755 [A/C] NM_015030 FRYL EXON Missense_V1614L exm398633 4 48553541 [T/A] NM_015030 FRYL EXON Missense_N1497I exm398637 4 48555241 [T/C] NM_015030 FRYL EXON Missense_V1476I exm398638 4 48555265 [T/C] NM_015030 FRYL EXON Missense_T1468A exm398640 4 48558995 [A/G] NM_015030 FRYL EXON Synonymous_Y1422Y exm398643 4 48559084 [A/C] NM_015030 FRYL EXON Missense_A1393S exm398650 4 48559502 [T/C] NM_015030 FRYL EXON Missense_V1365I exm398651 4 48559517 [T/G] NM_015030 FRYL EXON Missense_Q1360K exm398653 4 48559541 [A/G] NM_015030 FRYL EXON Missense_R1352W exm398654 4 48559549 [T/C] NM_015030 FRYL EXON Missense_R1349H exm398661 4 48563497 [T/C] NM_015030 FRYL EXON Missense_A1285T variant.80850 4 48563584 [A/G] NM_015030 FRYL EXON Nonsense_Q1256X exm398662 4 48563599 [C/G] NM_015030 FRYL EXON Missense_D1251H exm398663 4 48563616 [A/G] NM_015030 FRYL EXON Missense_L1245S exm398672 4 48566002 [T/C] NM_015030 FRYL EXON Missense_G1187S exm2256635 4 48566024 [T/C] NM_015030 FRYL EXON Synonymous_T1179T indel.80851 4 48567571 [I/D] NM_015030 FRYL EXON exm398695 4 48572932 [T/A] NM_015030 FRYL EXON Missense_M970L variant.80852 4 48577133 [T/C] NM_015030 FRYL Silent exm398710 4 48581017 [A/T] NM_015030 FRYL EXON Missense_Q834L exm398714 4 48581089 [T/C] NM_015030 FRYL EXON Missense_K810R exm398716 4 48581258 [T/C] NM_015030 FRYL EXON Missense_T754A indel.80853 4 48582877 [D/I] NM_015030 FRYL exm398718 4 48582883 [T/C] NM_015030 FRYL EXON Missense_Q753R rs4695391 4 48582909 [A/G] NM_015030 FRYL EXON Synonymous_S744S exm398723 4 48583490 [T/C] NM_015030 FRYL EXON Missense_V707I exm2075363 4 48583537 [A/G] NM_015030 FRYL EXON Missense_A691V exm398736 4 48583595 [T/G] NM_015030 FRYL EXON Missense_P672T rs3107023 4 48584405 [T/C] NM_015030 FRYL Silent exm398742 4 48584744 [T/C] NM_015030 FRYL EXON Missense_I586V variant.80854 4 48608450 [A/G] NM_015030 FRYL Silent rs776602 4 48611929 [A/C] NM_015030 FRYL Silent exm398772 4 48622707 [A/G] NM_015030 FRYL EXON Missense_T88M rs1876469 4 48627192 [T/C] NM_015030 FRYL Silent rs6845295 4 48662596 [T/G] NM_015030 FRYL Silent kgp8052356 4 48663843 [A/G] NM_015030 FRYL Silent kgp6380549 4 48669113 [T/C] NM_015030 FRYL Silent rs6447662 4 48782647 [A/C] rs7665209 4 48814687 [T/C] exm398784 4 48834667 [A/G] NM_017830,NM_001079841,NM_001079840,NM_001079842,NM_001079839,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 EXON Missense_E9G,Missense_E9G,Missense_E9G,Missense_E9G,Missense_E9G,Missense_E14G indel.80857 4 48834704 [D/I] NM_017830,NM_001079841,NM_001079840,NM_001079842,NM_001079839,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 exm2241076 4 48835465 [A/G] NM_017830,NM_001079841,NM_001079840,NM_001079842,NM_001079839,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 EXON Missense_A36T,Missense_A36T,Missense_A36T,Missense_A36T,Missense_A36T,Missense_A41T exm398795 4 48844670 [A/G] NM_017830,NM_001079841,NM_001079840,NM_001079842,NM_001079839,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 EXON Missense_T53A,Missense_T53A,Missense_T53A,Missense_T53A,Missense_T53A,Missense_T58A variant.80859 4 48850464 [A/G] NM_017830,NM_001079841,NM_001079840,NM_001079842,NM_001079839,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 Silent,Silent,Silent,Silent,Silent,Silent rs11733534 4 48851540 [T/C] NM_017830,NM_001079841,NM_001079840,NM_001079842,NM_001079839,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 Silent,Silent,Silent,Silent,Silent,Silent newrs148329796 4 48852065 [T/C] NM_017830,NM_001079841,NM_001079840,NM_001079842,NM_001079839,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 EXON Nonsense_R115X,Nonsense_R115X,Nonsense_R115X,Nonsense_R115X,Nonsense_R115X,Nonsense_R120X exm398805 4 48852080 [T/C] NM_017830,NM_001079841,NM_001079840,NM_001079842,NM_001079839,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 EXON Nonsense_R120X,Nonsense_R120X,Nonsense_R120X,Nonsense_R120X,Nonsense_R120X,Nonsense_R125X indel.80862 4 48853853 [I/D] NM_017830,NM_001079841,NM_001079840,NM_001079842,NM_001079839,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 EXON exm398821 4 48859250 [T/G] NM_017830,NM_001079841,NM_001079840,NM_001079842,NM_001079839,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 EXON Nonsense_E190X,Silent,Silent,Silent,Nonsense_E190X,Nonsense_E195X exm398826 4 48859320 [T/C] NM_017830,NM_001079841,NM_001079840,NM_001079842,NM_001079839,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 EXON Missense_S213F,Silent,Silent,Silent,Missense_S213F,Missense_S218F exm398828 4 48862754 [A/G] NM_017830,NM_001079841,NM_001079840,NM_001079842,NM_001079839,NM_001168254 OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1,OCIAD1 EXON Missense_K238R,Silent,Missense_K187R,Missense_K187R,Missense_K238R,Missense_K243R exm398829 4 48887527 [T/C] NM_152398,NM_001014446 OCIAD2,OCIAD2 EXON Silent,Missense_G147R exm398831 4 48887542 [T/C] NM_152398,NM_001014446 OCIAD2,OCIAD2 EXON Silent,Missense_G142R variant.80864 4 48894784 [A/C] NM_152398,NM_001014446 OCIAD2,OCIAD2 Silent,Silent exm398834 4 48894820 [A/G] NM_152398,NM_001014446 OCIAD2,OCIAD2 EXON Silent,Missense_R118C exm398836 4 48894868 [A/G] NM_152398,NM_001014446 OCIAD2,OCIAD2 EXON Silent,Missense_Y102H variant.80865 4 48894908 [T/C] NM_152398,NM_001014446 OCIAD2,OCIAD2 Silent,Silent rs2289065 4 48894981 [A/G] NM_152398,NM_001014446 OCIAD2,OCIAD2 Silent,Silent variant.80866 4 48896022 [T/C] NM_152398,NM_001014446 OCIAD2,OCIAD2 Silent,Silent exm398839 4 48896023 [G/C] NM_152398,NM_001014446 OCIAD2,OCIAD2 EXON Missense_R89G,Missense_L89V exm398840 4 48896026 [A/C] NM_152398,NM_001014446 OCIAD2,OCIAD2 EXON Missense_A88S,Missense_A88S exm398843 4 48899857 [T/C] NM_152398,NM_001014446 OCIAD2,OCIAD2 EXON Missense_V61I,Missense_V61I exm398845 4 48901878 [T/C] NM_152398,NM_001014446 OCIAD2,OCIAD2 EXON Missense_R44Q,Missense_R44Q var_4_48901930 4 48901931 [I/D] NM_152398,NM_001014446 OCIAD2,OCIAD2 EXON newrs141238653 4 48906500 [A/C] NM_152398,NM_001014446 OCIAD2,OCIAD2 Silent,Silent rs2085292 4 48914936 [A/G] rs1455942 4 48940906 [A/G] rs2605262 4 48952209 [A/G] rs2572363 4 48972651 [A/C] exm398852 4 48988450 [A/C] NM_025087 CWH43 EXON Missense_P2T exm2241080 4 48988457 [T/G] NM_025087 CWH43 EXON Missense_L4R rs4695414 4 48989358 [A/G] NM_025087 CWH43 Silent exm398857 4 48990552 [T/G] NM_025087 CWH43 EXON Missense_L34F exm398863 4 48990682 [A/G] NM_025087 CWH43 EXON Missense_I78V newrs149499062 4 48993509 [T/C] NM_025087 CWH43 EXON Nonsense_R92X indel.80873 4 48996777 [I/D] NM_025087 CWH43 EXON variant.80874 4 48996838 [A/G] NM_025087 CWH43 Silent newrs78996420 4 49000476 [A/G] NM_025087 CWH43 Silent exm398884 4 49000542 [T/C] NM_025087 CWH43 EXON Missense_T260I variant.80877 4 49000555 [A/G] NM_025087 CWH43 EXON Nonsense_W264X indel.80878 4 49000570 [D/I] NM_025087 CWH43 exm398888 4 49005824 [T/C] NM_025087 CWH43 EXON Missense_I292T rs6822902 4 49021099 [A/G] NM_025087 CWH43 Silent exm398916 4 49032874 [T/G] NM_025087 CWH43 EXON Missense_A469S variant.80881 4 49032975 [A/G] NM_025087 CWH43 EXON Nonsense_W502X exm398921 4 49034596 [T/G] NM_025087 CWH43 EXON Missense_S508A exm398922 4 49034606 [A/C] NM_025087 CWH43 EXON Missense_P511Q variant.80883 4 49034650 [T/G] NM_025087 CWH43 EXON Nonsense_E526X variant.80884 4 49034733 [A/G] NM_025087 CWH43 Silent variant.80885 4 49046850 [T/G] NM_025087 CWH43 EXON Nonsense_Y617X variant.80886 4 49046851 [T/C] NM_025087 CWH43 EXON Nonsense_R618X variant.80887 4 49046869 [A/G] NM_025087 CWH43 Silent exm398938 4 49052722 [T/C] NM_025087 CWH43 EXON Missense_A626V rs2768957 4 49053522 [A/G] NM_025087 CWH43 Silent rs11725957 4 49062892 [A/G] NM_025087 CWH43 Silent exm398947 4 49063872 [A/C] NM_025087 CWH43 EXON Missense_H689N rs7674086 4 49091782 [T/C] rs9631924 4 49553810 [A/G] rs10012987 4 52706270 [A/G] exm398958 4 52729610 [C/G] NM_001040402,NM_015115 DCUN1D4,DCUN1D4 EXON Missense_Q11H,Missense_Q11H indel.80891 4 52729613 [I/D] NM_001040402,NM_015115 DCUN1D4,DCUN1D4 EXON exm2075536 4 52729635 [A/G] NM_001040402,NM_015115 DCUN1D4,DCUN1D4 EXON Missense_A20T,Missense_A20T variant.80892 4 52729834 [A/G] NM_001040402,NM_015115 DCUN1D4,DCUN1D4 Silent,Silent exm398962 4 52729855 [T/G] NM_001040402,NM_015115 DCUN1D4,DCUN1D4 EXON Missense_G39V,Missense_G39V exm2075545 4 52740458 [A/C] NM_001040402,NM_015115 DCUN1D4,DCUN1D4 EXON Missense_S53Y,Missense_S53Y exm398965 4 52740504 [A/C] NM_001040402,NM_015115 DCUN1D4,DCUN1D4 EXON Missense_R68S,Missense_R68S exm398970 4 52743949 [T/C] NM_001040402,NM_015115 DCUN1D4,DCUN1D4 EXON Missense_S91L,Missense_S91L rs10012938 4 52745959 [T/C] NM_001040402,NM_015115 DCUN1D4,DCUN1D4 Silent,Silent exm398974 4 52752804 [T/C] NM_001040402,NM_015115 DCUN1D4,DCUN1D4 EXON Synonymous_N138N,Synonymous_N138N exm398978 4 52765500 [A/G] NM_001040402,NM_015115 DCUN1D4,DCUN1D4 EXON Missense_T191A,Missense_T191A rs6852236 4 52784678 [A/G] rs1996617 4 52798624 [T/C] rs6829655 4 52810307 [T/C] rs11735705 4 52830444 [T/G] exm398994 4 52860750 [A/G] NM_001024611 LRRC66 EXON Missense_P813L exm398995 4 52860754 [T/A] NM_001024611 LRRC66 EXON Missense_S812C exm398998 4 52860859 [A/G] NM_001024611 LRRC66 EXON Missense_L777F exm398999 4 52860884 [A/C] NM_001024611 LRRC66 EXON Missense_N768K exm399005 4 52860961 [T/C] NM_001024611 LRRC66 EXON Missense_S743G exm399007 4 52861020 [T/C] NM_001024611 LRRC66 EXON Missense_S723N exm399016 4 52861299 [A/G] NM_001024611 LRRC66 EXON Missense_I630T exm399018 4 52861308 [T/C] NM_001024611 LRRC66 EXON Missense_S627N 1KG_4_52861333 4 52861333 [D/I] NM_001024611 LRRC66 EXON exm399023 4 52861494 [A/C] NM_001024611 LRRC66 EXON Missense_V565G exm399027 4 52861558 [A/G] NM_001024611 LRRC66 EXON Nonsense_Q544X var_4_52861615 4 52861615 [A/G] NM_001024611 LRRC66 EXON Nonsense_Q525X 1KG_4_52861667 4 52861668 [I/D] NM_001024611 LRRC66 EXON exm2256640 4 52861781 [A/T] NM_001024611 LRRC66 EXON Synonymous_V469V exm399031 4 52861781 [A/T] NM_001024611 LRRC66 EXON Synonymous_V469V variant.80901 4 52861973 [T/C] NM_001024611 LRRC66 EXON Nonsense_W405X exm2275740 4 52861978 [A/G] NM_001024611 LRRC66 EXON Synonymous_L404L exm399047 4 52862136 [A/C] NM_001024611 LRRC66 EXON Missense_R351L exm2075585 4 52862250 [A/G] NM_001024611 LRRC66 EXON Missense_M313T exm399056 4 52862305 [T/G] NM_001024611 LRRC66 EXON Missense_P295T exm399059 4 52864010 [A/T] NM_001024611 LRRC66 EXON Missense_N254Y exm399068 4 52869526 [T/C] NM_001024611 LRRC66 EXON Missense_D177N variant.80905 4 52869535 [A/G] NM_001024611 LRRC66 EXON Nonsense_Q174X exm399070 4 52869549 [A/T] NM_001024611 LRRC66 EXON Missense_K169I rs4610396 4 52871894 [T/G] NM_001024611 LRRC66 Silent exm399075 4 52883368 [A/G] NM_001024611 LRRC66 EXON Missense_R138C indel.80906 4 52883380 [I/D] NM_001024611 LRRC66 EXON exm399076 4 52883382 [T/G] NM_001024611 LRRC66 EXON Missense_S133Y exm399078 4 52883440 [A/C] NM_001024611 LRRC66 EXON Missense_L114V exm2275370 4 52883526 [T/C] NM_001024611 LRRC66 EXON Nonsense_W85X exm399079 4 52883563 [T/C] NM_001024611 LRRC66 EXON Missense_R73G indel.80908 4 52883640 [D/I] NM_001024611 LRRC66 EXON rs225160 4 52884239 [A/G] exm399086 4 52890137 [T/C] NM_000232 SGCB EXON Missense_G315R exm399096 4 52890281 [A/G] NM_000232 SGCB EXON Missense_R267C exm399097 4 52890286 [A/G] NM_000232 SGCB EXON Missense_T265I exm399099 4 52890295 [A/G] NM_000232 SGCB EXON Missense_M262T exm399106 4 52895021 [T/C] NM_000232 SGCB EXON Missense_I166V exm2075604 4 52895074 [T/C] NM_000232 SGCB EXON Missense_Q148R newrs150518260 4 52895932 [A/G] NM_000232 SGCB EXON Missense_S114F exm399118 4 52895932 [A/G] NM_000232 SGCB EXON Missense_S114F variant.80911 4 52896002 [A/G] NM_000232 SGCB EXON Missense_R91C exm399128 4 52899689 [A/G] NM_000232 SGCB EXON Missense_R51C rs12502690 4 52914234 [A/C] exm399137 4 52926584 [T/G] NM_145263 SPATA18 Silent exm399143 4 52926657 [T/C] NM_145263 SPATA18 EXON Missense_L54F exm399145 4 52926666 [T/A] NM_145263 SPATA18 EXON Missense_I57F exm2075623 4 52926983 [T/C] NM_145263 SPATA18 EXON Missense_R77C exm399158 4 52935998 [T/C] NM_145263 SPATA18 EXON Missense_T145I exm2075627 4 52938091 [A/C] NM_145263 SPATA18 EXON Missense_S176Y exm2275741 4 52938114 [C/G] NM_145263 SPATA18 EXON Missense_R184G exm399159 4 52938115 [A/G] NM_145263 SPATA18 EXON Missense_R184H exm2075630 4 52938139 [A/G] NM_145263 SPATA18 EXON Missense_S192N exm399161 4 52938243 [T/C] NM_145263 SPATA18 EXON Missense_S227P rs3860707 4 52938243 [T/C] NM_145263 SPATA18 EXON Missense_S227P exm399163 4 52938265 [A/G] NM_145263 SPATA18 EXON Missense_R234Q newrs144283037 4 52938276 [T/G] NM_145263 SPATA18 EXON Nonsense_E238X exm399169 4 52942964 [T/C] NM_145263 SPATA18 EXON Missense_P260S exm2275742 4 52942985 [G/C] NM_145263 SPATA18 EXON Missense_R267G exm399171 4 52942986 [A/G] NM_145263 SPATA18 EXON Missense_R267H exm399174 4 52943024 [A/G] NM_145263 SPATA18 EXON Missense_A280T exm399176 4 52943042 [C/G] NM_145263 SPATA18 EXON Missense_P286A exm399178 4 52943061 [A/G] NM_145263 SPATA18 EXON Missense_K292R exm399179 4 52943100 [A/G] NM_145263 SPATA18 EXON Missense_R305Q indel.80914 4 52944920 [D/I] NM_145263 SPATA18 EXON exm399195 4 52945049 [T/G] NM_145263 SPATA18 EXON Missense_S390I variant.80915 4 52945064 [A/G] NM_145263 SPATA18 Silent exm399200 4 52945961 [A/G] NM_145263 SPATA18 EXON Missense_V411I indel.80916 4 52945971 [D/I] NM_145263 SPATA18 EXON rs7657148 4 52946161 [A/G] NM_145263 SPATA18 Silent exm2075642 4 52948557 [T/C] NM_145263 SPATA18 EXON Missense_R454C variant.80917 4 52948681 [A/G] NM_145263 SPATA18 Silent exm399211 4 52951089 [T/C] NM_145263 SPATA18 EXON Missense_S496L exm399212 4 52951094 [T/C] NM_145263 SPATA18 EXON Nonsense_R498X exm399214 4 52951113 [A/G] NM_145263 SPATA18 EXON Missense_R504Q exm399216 4 52951137 [A/G] NM_145263 SPATA18 EXON Missense_C512Y exm399218 4 52951142 [T/C] NM_145263 SPATA18 EXON Missense_R514C variant.80918 4 52951165 [A/G] NM_145263 SPATA18 EXON Synonymous_T521T rs17081804 4 52952193 [A/G] NM_145263 SPATA18 Silent exm399220 4 52960699 [T/C] NM_145263 SPATA18 EXON Nonsense_R524X rs10011990 4 52962529 [T/C] NM_145263 SPATA18 EXON Silent rs13122418 4 52968477 [A/G] rs11722603 4 52969732 [A/G] kgp5812086 4 52983401 [A/G] exm2265838 4 52983401 [A/G] kgp6992821 4 52983669 [A/C] rs10517246 4 53038557 [T/C] rs13353646 4 53061395 [T/C] rs11133414 4 53069867 [A/G] rs9685444 4 53070929 [A/G] rs17842688 4 53071767 [T/C] rs1871870 4 53108038 [T/C] rs1482111 4 53122296 [A/G] rs11731574 4 53122932 [T/C] rs995239 4 53130243 [A/C] rs6554360 4 53136123 [T/C] rs4590104 4 53154570 [T/C] exm2265699 4 53165940 [A/G] rs349373 4 53176247 [A/G] rs959214 4 53233385 [A/G] rs1459814 4 53239603 [A/G] rs7692441 4 53270011 [T/C] rs6834296 4 53283093 [T/C] rs11133542 4 53288276 [A/G] rs11732165 4 53325022 [A/G] rs9312700 4 53336721 [A/G] rs1459822 4 53339047 [A/G] rs346901 4 53383129 [A/G] rs1347763 4 53399616 [T/C] exm-rs346923 4 53412129 [A/G] rs346011 4 53434611 [A/G] rs7668895 4 53456416 [A/C] rs17051586 4 53463566 [T/C] NM_001134223,NM_022832 USP46,USP46 EXON Silent,Silent variant.80920 4 53464794 [T/C] NM_001134223,NM_022832 USP46,USP46 EXON Synonymous_E326E,Synonymous_E333E exm399262 4 53494206 [A/G] NM_001134223,NM_022832 USP46,USP46 EXON Missense_A74V,Missense_A81V variant.80922 4 53525308 [A/G] NM_022832 USP46 EXON Nonsense_R4X kgp8293367 4 53541670 [A/G] kgp6491258 4 53541899 [T/C] rs10028122 4 53578009 [A/G] variant.80923 4 53610391 [A/G] NM_001242690,NM_024534 ERVMER34-1,ERVMER34-1 EXON Nonsense_R433X,Nonsense_R433X variant.80924 4 53610701 [T/G] NM_001242690,NM_024534 ERVMER34-1,ERVMER34-1 EXON Nonsense_Y329X,Nonsense_Y329X indel.80925 4 53610788 [I/D] NM_001242690,NM_024534 ERVMER34-1,ERVMER34-1 EXON newrs61731313 4 53611484 [T/C] NM_001242690,NM_024534 ERVMER34-1,ERVMER34-1 EXON Nonsense_W68X,Nonsense_W68X rs4865408 4 53619367 [T/C] rs4865412 4 53629126 [A/C] rs2411265 4 53643479 [A/G] rs10000595 4 53646007 [A/C] rs730247 4 53680696 [T/G] NR_040106 LOC152578 Silent rs7658762 4 53688988 [T/C] rs10008073 4 53692040 [T/C] rs6838718 4 53710828 [T/C] rs17698672 4 53711634 [T/C] rs9993034 4 53712071 [T/C] rs7662817 4 53712304 [A/G] rs10026162 4 53718375 [A/G] rs6818178 4 53724744 [A/G] exm399339 4 53731655 [T/C] NM_023940 RASL11B EXON Missense_R144W exm399342 4 53731802 [A/G] NM_023940 RASL11B EXON Missense_A193T exm399343 4 53731803 [T/C] NM_023940 RASL11B EXON Missense_A193V rs7699960 4 53735661 [A/C] exm399356 4 53740210 [A/G] NM_152540 SCFD2 EXON Nonsense_R661X exm399357 4 53740222 [T/C] NM_152540 SCFD2 EXON Missense_V657M exm399362 4 53751937 [C/G] NM_152540 SCFD2 EXON Missense_A647P exm2075704 4 53752023 [T/G] NM_152540 SCFD2 EXON Missense_P618H exm399366 4 53752026 [T/C] NM_152540 SCFD2 EXON Missense_R617Q rs2898681 4 53757000 [A/G] NM_152540 SCFD2 Silent exm-rs2898681 4 53757000 [A/G] NM_152540 SCFD2 Silent exm2269755 4 53757674 [T/C] NM_152540 SCFD2 Silent exm399372 4 53786965 [T/C] NM_152540 SCFD2 EXON Missense_R545Q exm399373 4 53786966 [A/G] NM_152540 SCFD2 EXON Missense_R545W rs301126 4 53795651 [T/C] NM_152540 SCFD2 Silent rs301119 4 53798146 [A/C] NM_152540 SCFD2 Silent rs301092 4 53821849 [T/C] NM_152540 SCFD2 Silent rs301088 4 53830757 [A/C] NM_152540 SCFD2 Silent rs2101201 4 53842714 [T/C] NM_152540 SCFD2 Silent rs1531836 4 53850860 [A/G] NM_152540 SCFD2 Silent rs12641446 4 53871388 [A/G] NM_152540 SCFD2 Silent rs17701605 4 53872674 [A/G] NM_152540 SCFD2 Silent rs17082301 4 53893156 [A/G] NM_152540 SCFD2 Silent rs4864715 4 53907444 [T/G] NM_152540 SCFD2 Silent rs2411290 4 53939510 [T/C] NM_152540 SCFD2 Silent rs13141532 4 53959141 [T/C] NM_152540 SCFD2 Silent rs11934112 4 53960196 [T/C] NM_152540 SCFD2 Silent rs7661029 4 53965247 [A/G] NM_152540 SCFD2 Silent rs4864446 4 53980677 [A/C] NM_152540 SCFD2 Silent rs4864723 4 53986846 [T/C] NM_152540 SCFD2 Silent exm2269919 4 53986846 [T/C] NM_152540 SCFD2 Silent rs10028181 4 54000949 [A/G] NM_152540 SCFD2 Silent variant.80931 4 54011512 [A/G] NM_152540 SCFD2 EXON Nonsense_Q517X exm399377 4 54011526 [A/G] NM_152540 SCFD2 EXON Missense_L512S rs7675987 4 54011526 [A/G] NM_152540 SCFD2 EXON Missense_L512S indel.80932 4 54011570 [I/D] NM_152540 SCFD2 EXON exm399383 4 54011587 [A/G] NM_152540 SCFD2 EXON Missense_C492R exm399394 4 54011745 [A/G] NM_152540 SCFD2 EXON Missense_I439T var_4_54011750 4 54011750 [T/C] NM_152540 SCFD2 Silent rs7694213 4 54023351 [A/G] NM_152540 SCFD2 Silent rs10517281 4 54027595 [A/G] NM_152540 SCFD2 Silent rs13111251 4 54043211 [A/G] NM_152540 SCFD2 Silent rs4588514 4 54074642 [A/G] NM_152540 SCFD2 Silent rs12108246 4 54078164 [T/C] NM_152540 SCFD2 Silent exm2265700 4 54099223 [A/G] NM_152540 SCFD2 Silent rs4472196 4 54107382 [A/G] NM_152540 SCFD2 Silent var_4_54139988 4 54139988 [T/C] NM_152540 SCFD2 Silent exm399400 4 54140057 [G/C] NM_152540 SCFD2 EXON Missense_T416R rs17082557 4 54140416 [T/G] NM_152540 SCFD2 Silent exm399404 4 54179825 [T/G] NM_152540 SCFD2 EXON Missense_N371K indel.80936 4 54179904 [D/I] NM_152540 SCFD2 EXON exm399412 4 54179920 [A/C] NM_152540 SCFD2 EXON Missense_A340S rs4864747 4 54181789 [T/C] NM_152540 SCFD2 Silent rs11725172 4 54203701 [T/G] NM_152540 SCFD2 Silent exm399417 4 54218834 [A/G] NM_152540 SCFD2 EXON Missense_A313V indel.80937 4 54218858 [I/D] NM_152540 SCFD2 EXON exm399423 4 54218899 [C/G] NM_152540 SCFD2 EXON Missense_E291D exm399424 4 54218919 [T/G] NM_152540 SCFD2 EXON Missense_H285N exm399425 4 54218924 [A/C] NM_152540 SCFD2 EXON Missense_G283V exm399430 4 54231354 [T/C] NM_152540 SCFD2 EXON Missense_N252S exm399434 4 54231438 [T/C] NM_152540 SCFD2 EXON Missense_S224N exm399438 4 54231541 [G/C] NM_152540 SCFD2 EXON Missense_A190P exm399441 4 54231604 [A/T] NM_152540 SCFD2 EXON Missense_L169M exm399443 4 54231640 [A/G] NM_152540 SCFD2 EXON Missense_P157S exm399447 4 54231870 [A/G] NM_152540 SCFD2 EXON Missense_L80P exm2075735 4 54232051 [T/C] NM_152540 SCFD2 EXON Missense_K20E exm399458 4 54232071 [C/G] NM_152540 SCFD2 EXON Missense_G13A rs6554098 4 54232658 [A/G] rs1481819 4 54254146 [A/G] NM_030917,NM_001134938,NM_001134937 FIP1L1,FIP1L1,FIP1L1 Silent,Silent,Silent variant.80941 4 54256688 [T/G] NM_030917,NM_001134938,NM_001134937 FIP1L1,FIP1L1,FIP1L1 EXON Missense_G133V,Missense_G118V,Missense_G118V variant.80942 4 54256698 [A/C] NM_030917,NM_001134938,NM_001134937 FIP1L1,FIP1L1,FIP1L1 EXON Synonymous_V136V,Synonymous_V121V,Synonymous_V121V exm399491 4 54257655 [A/G] NM_030917,NM_001134938,NM_001134937 FIP1L1,FIP1L1,FIP1L1 EXON Missense_N232S,Silent,Missense_N217S variant.80943 4 54257666 [A/G] NM_030917,NM_001134938,NM_001134937 FIP1L1,FIP1L1,FIP1L1 Silent,Silent,Silent rs10025091 4 54264543 [T/C] NM_030917,NM_001134938,NM_001134937 FIP1L1,FIP1L1,FIP1L1 Silent,Silent,Silent exm399497 4 54280873 [A/G] NM_030917,NM_001134938,NM_001134937 FIP1L1,FIP1L1,FIP1L1 EXON Missense_E303K,Silent,Missense_E288K rs17326196 4 54314418 [T/C] NM_030917,NM_001134938,NM_001134937 FIP1L1,FIP1L1,FIP1L1 Silent,Silent,Silent rs1014056 4 54325990 [T/C] NM_030917,NM_001134938,NM_001134937 FIP1L1,FIP1L1,FIP1L1 EXON Silent,Silent,Silent exm399537 4 54327211 [T/A] NM_032622,NM_001126328 LNX1,LNX1 Silent,Silent newrs143573829 4 54342920 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_R535Q,Missense_R631Q exm2075777 4 54344759 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_I450V,Missense_I546V exm2241097 4 54344840 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_G423S,Missense_G519S exm399559 4 54344855 [A/G] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_P418S,Missense_P514S exm399566 4 54344908 [T/G] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_P400H,Missense_P496H rs6835629 4 54346483 [T/C] NM_032622,NM_001126328 LNX1,LNX1 Silent,Silent exm399568 4 54347946 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_G380S,Missense_G476S exm2075786 4 54347948 [A/G] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_A379V,Missense_A475V exm2075787 4 54347978 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_R369Q,Missense_R465Q exm399571 4 54347997 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_V363I,Missense_V459I exm399573 4 54348008 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_R359H,Missense_R455H exm399574 4 54348009 [A/G] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_R359C,Missense_R455C rs6838260 4 54355824 [A/G] NM_032622,NM_001126328 LNX1,LNX1 Silent,Silent exm399578 4 54362225 [A/G] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_Y343H,Missense_Y439H exm399579 4 54362257 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_R332H,Missense_R428H exm399581 4 54362297 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_G319S,Missense_G415S exm399586 4 54362372 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_E294K,Missense_E390K exm399589 4 54362434 [T/G] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_A273D,Missense_A369D exm399592 4 54362456 [A/G] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_R266C,Missense_R362C exm399594 4 54362515 [T/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_R246H,Missense_R342H exm399595 4 54362516 [A/G] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_R246C,Missense_R342C rs4864767 4 54367136 [A/G] NM_032622,NM_001126328,NR_046622 LNX1,LNX1,LNX1-AS1 Silent,Silent,Silent rs10021772 4 54373464 [T/C] NM_032622,NM_001126328,NR_046622 LNX1,LNX1,LNX1-AS1 Silent,Silent,Silent exm399610 4 54373579 [A/G] NM_032622,NM_001126328,NR_046622 LNX1,LNX1,LNX1-AS1 EXON Missense_A131V,Missense_A227V,Silent exm399614 4 54373634 [A/G] NM_032622,NM_001126328,NR_046622 LNX1,LNX1,LNX1-AS1 EXON Missense_R113W,Missense_R209W,Silent exm2241099 4 54374306 [T/C] NM_032622,NM_001126328,NR_046622 LNX1,LNX1,LNX1-AS1 EXON Missense_A61T,Missense_A157T,Silent exm399619 4 54374365 [G/C] NM_032622,NM_001126328,NR_046622 LNX1,LNX1,LNX1-AS1 EXON Missense_T41S,Missense_T137S,Silent rs2164265 4 54377540 [A/G] NM_032622,NM_001126328,NR_046622 LNX1,LNX1,LNX1-AS1 Silent,Silent,Silent rs4864463 4 54378854 [T/C] NM_032622,NM_001126328,NR_046622 LNX1,LNX1,LNX1-AS1 Silent,Silent,Silent rs6812114 4 54396077 [T/C] NM_032622,NM_001126328 LNX1,LNX1 Silent,Silent rs1435221 4 54398776 [A/G] NM_032622,NM_001126328 LNX1,LNX1 Silent,Silent rs1435219 4 54401849 [A/G] NM_032622,NM_001126328 LNX1,LNX1 Silent,Silent rs1040084 4 54410224 [A/G] NM_032622,NM_001126328 LNX1,LNX1 Silent,Silent rs7697542 4 54413069 [T/C] NM_032622,NM_001126328 LNX1,LNX1 Silent,Silent rs6554112 4 54418635 [A/G] NM_032622,NM_001126328 LNX1,LNX1 Silent,Silent exm2075803 4 54424055 [G/C] NM_032622,NM_001126328 LNX1,LNX1 EXON Missense_F26L,Silent rs4864795 4 54425184 [T/C] NM_001126328 LNX1 Silent rs4864800 4 54439033 [A/G] NM_001126328 LNX1 Silent indel.80948 4 54439858 [D/I] NM_001126328 LNX1 EXON exm2274011 4 54440142 [A/G] NM_001126328 LNX1 EXON Missense_P10S exm399636 4 54440145 [T/C] NM_001126328 LNX1 EXON Missense_D9N indel.80949 4 54440157 [D/I] NM_001126328 LNX1 EXON exm399639 4 54440164 [T/G] NM_001126328 LNX1 EXON Missense_N2K rs1369355 4 54446860 [A/G] NM_001126328 LNX1 Silent rs17083112 4 54453676 [T/C] NM_001126328 LNX1 Silent rs9312642 4 54456051 [A/G] NM_001126328 LNX1 Silent rs1464028 4 54460824 [A/C] NR_046827 LNX1-AS2 Silent rs2616404 4 54474244 [A/G] rs2590816 4 54485327 [T/C] rs10031866 4 54489838 [T/G] rs2572290 4 54493031 [T/C] rs4864809 4 54511913 [A/G] rs1077966 4 54517341 [T/C] rs2590809 4 54542666 [A/G] rs2199574 4 54547031 [T/G] rs2668532 4 54556087 [T/C] rs2590783 4 54559738 [T/C] rs6827185 4 54561980 [A/G] rs715155 4 54572307 [T/C] rs2668540 4 54574146 [A/C] rs9684467 4 54582132 [A/G] rs2245157 4 54596466 [T/G] rs2616411 4 54596896 [A/G] rs3844504 4 54608737 [A/C] rs4082297 4 54608763 [T/C] rs3853200 4 54609243 [T/C] rs3866377 4 54612302 [A/G] rs2590765 4 54615216 [A/G] rs2616434 4 54616649 [A/G] rs4530695 4 54629640 [T/C] rs6842213 4 54632173 [A/G] exm2265701 4 54632173 [A/G] rs2412494 4 54633159 [T/C] rs4305579 4 54638662 [A/C] rs4501282 4 54650286 [A/C] rs1498821 4 54666951 [T/G] rs994965 4 54676030 [T/C] rs13108970 4 54698028 [T/C] rs17083558 4 54706281 [A/G] rs7662508 4 54723742 [T/C] rs1498828 4 54736988 [A/G] rs6554139 4 54738622 [T/C] rs7659192 4 54750921 [A/G] rs1498827 4 54756219 [T/C] rs2102012 4 54761404 [T/G] rs1109789 4 54782044 [T/C] rs11725926 4 54796220 [T/C] rs871606 4 54799245 [T/C] rs11737196 4 54802080 [T/C] rs7686432 4 54819631 [T/C] rs6834659 4 54866124 [T/C] exm399686 4 54880063 [A/G] NM_012110 CHIC2 EXON Synonymous_L130L rs9990570 4 54902868 [T/C] NM_012110 CHIC2 Silent variant.80951 4 54915201 [T/C] NM_012110 CHIC2 EXON Missense_R84H rs714860 4 54954323 [A/G] rs2412535 4 54956686 [T/C] exm399710 4 54966545 [A/G] NM_133267 GSX2 EXON Missense_I12V exm399722 4 54966830 [A/G] NM_133267 GSX2 EXON Missense_G107S rs2278142 4 54967709 [A/C] NM_133267 GSX2 Silent rs4864841 4 54986885 [T/C] rs6850083 4 54986912 [T/C] rs6554152 4 55016097 [T/C] rs7659596 4 55049751 [A/G] rs2162136 4 55061398 [T/G] rs12233727 4 55073270 [T/C] rs1559715 4 55073673 [A/G] rs6832597 4 55076237 [A/C] rs11133313 4 55081757 [T/C] rs17084051 4 55087581 [A/C] exm-rs2114039 4 55092626 [T/C] rs6554162 4 55093955 [A/G] rs7677751 4 55124460 [T/C] NM_006206 PDGFRA Silent variant.80953 4 55124989 [A/G] NM_006206 PDGFRA Silent exm399751 4 55127448 [A/G] NM_006206 PDGFRA EXON Missense_G79D exm399759 4 55130065 [C/G] NM_006206 PDGFRA EXON Missense_T200S exm399765 4 55131118 [T/C] NM_006206 PDGFRA EXON Missense_L221F exm399775 4 55133531 [A/G] NM_006206 PDGFRA EXON Missense_E279K rs4358459 4 55133726 [T/G] NM_006206 PDGFRA EXON Synonymous_G313G exm399787 4 55133806 [A/G] NM_006206 PDGFRA EXON Missense_R340Q exm399789 4 55133886 [A/G] NM_006206 PDGFRA EXON Missense_V367M exm399793 4 55136800 [G/C] NM_006206 PDGFRA EXON Missense_R374S exm399795 4 55136813 [T/G] NM_006206 PDGFRA EXON Missense_L379V variant.80955 4 55136916 [T/G] NM_006206 PDGFRA Silent exm399800 4 55138608 [A/G] NM_006206 PDGFRA EXON Missense_G429R exm399803 4 55138642 [T/C] NM_006206 PDGFRA EXON Missense_T440M exm399805 4 55138648 [T/C] NM_006206 PDGFRA EXON Missense_L442P exm2241103 4 55139764 [T/G] NM_006206 PDGFRA EXON Missense_E475D exm399810 4 55139771 [T/C] NM_006206 PDGFRA EXON Missense_S478P exm399818 4 55140770 [T/C] NM_006206 PDGFRA EXON Missense_V544A exm399827 4 55143659 [T/C] NM_006206 PDGFRA EXON Missense_P631S variant.80956 4 55143659 [T/C] NM_006206 PDGFRA EXON Missense_P631S exm399838 4 55146556 [T/C] NM_006206 PDGFRA EXON Missense_P744S exm399841 4 55146608 [T/G] NM_006206 PDGFRA EXON Missense_L761R exm399842 4 55146617 [A/G] NM_006206 PDGFRA EXON Missense_R764H rs2412559 4 55151711 [A/C] NM_006206 PDGFRA Silent rs2228230 4 55152040 [T/C] NM_006206 PDGFRA EXON Synonymous_V824V variant.80957 4 55155286 [A/G] NM_006206 PDGFRA Silent exm399877 4 55156564 [A/G] NM_006206 PDGFRA EXON Missense_I989V rs3733540 4 55161254 [T/C] NM_006206 PDGFRA Silent indel.80958 4 55161418 [D/I] NM_006206 PDGFRA EXON exm2273391 4 55161517 [A/G] NM_006206 PDGFRA EXON Silent rs4583821 4 55193347 [T/C] rs17084148 4 55196620 [T/C] rs17084178 4 55202157 [T/G] rs2412563 4 55225121 [A/G] exm-rs17690232 4 55234825 [C/G] rs17747127 4 55241063 [T/C] exm2261729 4 55245541 [T/C] rs4572929 4 55245741 [A/G] rs1353005 4 55245897 [T/G] rs1156181 4 55259352 [T/C] rs17691810 4 55270873 [T/G] rs11721618 4 55286861 [T/G] rs10517332 4 55288019 [A/G] rs1396066 4 55289826 [A/G] rs13129356 4 55295481 [A/G] rs10517334 4 55301708 [T/C] rs1507966 4 55314638 [T/G] rs17693577 4 55345209 [T/C] rs1507955 4 55354275 [A/G] rs7676607 4 55357990 [T/C] rs1507952 4 55361102 [A/G] rs6838519 4 55368702 [T/C] rs6554191 4 55374968 [A/C] rs11133333 4 55380471 [T/G] rs17084420 4 55385637 [A/G] rs170118 4 55390494 [A/C] rs10050226 4 55392598 [T/C] exm-rs218237 4 55394172 [T/C] rs218237 4 55394172 [T/C] exm-rs172629 4 55407762 [C/G] rs218268 4 55411087 [A/G] rs218280 4 55424289 [T/G] rs2703487 4 55434828 [T/C] rs17084491 4 55446565 [C/G] rs4864910 4 55449616 [A/G] rs2537883 4 55478047 [T/C] rs17230634 4 55480024 [T/C] rs12512899 4 55486791 [T/G] rs7655814 4 55492212 [A/C] rs7695300 4 55512066 [T/C] rs4241987 4 55517005 [T/G] rs2159935 4 55521017 [A/G] rs2237034 4 55528653 [T/G] NM_001093772,NM_000222 KIT,KIT Silent,Silent rs2237028 4 55536375 [T/G] NM_001093772,NM_000222 KIT,KIT Silent,Silent rs2237023 4 55557984 [A/G] NM_001093772,NM_000222 KIT,KIT Silent,Silent exm399908 4 55561758 [T/G] NM_001093772,NM_000222 KIT,KIT EXON Missense_V50L,Missense_V50L exm2274012 4 55561861 [T/C] NM_001093772,NM_000222 KIT,KIT EXON Missense_T84M,Missense_T84M exm399927 4 55564615 [T/C] NM_001093772,NM_000222 KIT,KIT EXON Missense_A168V,Missense_A168V exm399930 4 55564644 [A/G] NM_001093772,NM_000222 KIT,KIT EXON Missense_A178T,Missense_A178T exm399935 4 55569954 [T/C] NM_001093772,NM_000222 KIT,KIT EXON Missense_T274M,Missense_T274M exm399939 4 55570011 [A/G] NM_001093772,NM_000222 KIT,KIT EXON Missense_N293S,Missense_N293S exm399941 4 55573290 [A/G] NM_001093772,NM_000222 KIT,KIT EXON Missense_M318V,Missense_M318V rs3020826 4 55574182 [T/C] NM_001093772,NM_000222 KIT,KIT Silent,Silent rs2237018 4 55575144 [A/G] NM_001093772,NM_000222 KIT,KIT Silent,Silent exm399947 4 55575594 [A/G] NM_001093772,NM_000222 KIT,KIT EXON Missense_V374I,Missense_V374I exm399951 4 55575669 [A/G] NM_001093772,NM_000222 KIT,KIT EXON Missense_V399I,Missense_V399I exm399952 4 55575673 [A/G] NM_001093772,NM_000222 KIT,KIT EXON Missense_N400S,Missense_N400S exm399953 4 55575704 [T/C] NM_001093772,NM_000222 KIT,KIT EXON Synonymous_N410N,Synonymous_N410N exm399957 4 55592027 [T/C] NM_001093772,NM_000222 KIT,KIT EXON Missense_S451P,Missense_S451P exm399963 4 55593431 [A/G] NM_001093772,NM_000222 KIT,KIT EXON Missense_V526I,Missense_V530I exm399964 4 55593437 [A/G] NM_001093772,NM_000222 KIT,KIT EXON Missense_V528I,Missense_V532I exm399965 4 55593464 [A/C] NM_001093772,NM_000222 KIT,KIT EXON Missense_M537L,Missense_M541L exm399968 4 55593628 [T/G] NM_001093772,NM_000222 KIT,KIT EXON Missense_G561V,Missense_G565V indel.80964 4 55595595 [D/I] NM_001093772,NM_000222 KIT,KIT EXON exm399995 4 55598164 [T/C] NM_001093772,NM_000222 KIT,KIT EXON Synonymous_N783N,Synonymous_N787N newrs141347955 4 55599358 [T/C] NM_001093772,NM_000222 KIT,KIT EXON Synonymous_N824N,Synonymous_N828N variant.80967 4 55603446 [T/C] NM_001093772,NM_000222 KIT,KIT EXON Synonymous_H930H,Synonymous_H934H exm400012 4 55604628 [T/C] NM_001093772,NM_000222 KIT,KIT EXON Nonsense_R942X,Nonsense_R946X rs4406072 4 55610660 [T/G] rs4864522 4 55617208 [A/G] rs10213491 4 55624059 [A/G] rs11732323 4 55643116 [A/G] rs1982975 4 55669590 [T/G] rs1472411 4 55689495 [T/C] rs2726626 4 55703218 [A/G] rs17763012 4 55703257 [T/C] rs1948607 4 55706827 [T/C] rs2270674 4 55715633 [A/G] rs1874647 4 55721469 [A/G] rs2173231 4 55725382 [A/G] rs6554207 4 55746122 [T/C] rs878120 4 55748445 [A/G] rs17085113 4 55787043 [T/C] exm2269757 4 55787043 [T/C] rs969340 4 55790393 [T/C] rs2088402 4 55800687 [A/G] rs2067951 4 55805555 [A/C] rs11722442 4 55814774 [T/C] rs6554217 4 55831233 [T/C] rs6835585 4 55839848 [T/G] rs12502309 4 55867442 [A/C] rs7658751 4 55885310 [A/G] rs13105577 4 55894238 [A/G] rs7441352 4 55913934 [A/G] rs10461355 4 55921535 [T/G] rs4241991 4 55931246 [A/G] exm400022 4 55946112 [A/G] NM_002253 KDR EXON Missense_V1356A exm400025 4 55946160 [A/G] NM_002253 KDR EXON Missense_A1340V exm400027 4 55946191 [A/T] NM_002253 KDR EXON Missense_I1330L exm400033 4 55946330 [T/A] NM_002253 KDR EXON Synonymous_G1283G exm400044 4 55948714 [A/C] NM_002253 KDR EXON Missense_V1251L exm400058 4 55955548 [A/G] NM_002253 KDR EXON Missense_P1133S variant.80969 4 55955593 [A/G] NM_002253 KDR EXON Nonsense_R1118X exm400067 4 55955969 [T/C] NM_002253 KDR EXON Missense_A1065T rs17709898 4 55957723 [A/G] NM_002253 KDR Silent exm2076012 4 55961103 [T/C] NM_002253 KDR EXON Missense_R946H exm400084 4 55961818 [T/C] NM_002253 KDR EXON Missense_I915V exm400086 4 55961831 [T/C] NM_002253 KDR EXON Synonymous_G910G exm400087 4 55962403 [A/C] NM_002253 KDR EXON Missense_K907N exm2241111 4 55964373 [T/C] NM_002253 KDR EXON Missense_D814N exm400104 4 55964925 [A/G] NM_002253 KDR EXON Missense_T771M rs6828477 4 55966801 [T/C] NM_002253 KDR Silent exm400120 4 55968597 [A/G] NM_002253 KDR EXON Missense_T689M exm400123 4 55968651 [T/C] NM_002253 KDR EXON Missense_G671E exm400125 4 55968660 [A/G] NM_002253 KDR EXON Missense_T668M rs11732292 4 55970101 [A/C] NM_002253 KDR Silent exm400136 4 55971098 [T/C] NM_002253 KDR EXON Missense_V567M exm400144 4 55972029 [T/C] NM_002253 KDR EXON Missense_G539R newrs34231037 4 55972946 [A/G] NM_002253 KDR EXON Missense_C482R rs1870377 4 55972974 [T/A] NM_002253 KDR EXON Missense_Q472H exm400150 4 55972974 [T/A] NM_002253 KDR EXON Missense_Q472H exm400154 4 55973932 [A/C] NM_002253 KDR EXON Missense_L462V exm2076043 4 55976674 [A/G] NM_002253 KDR EXON Missense_T384M exm400163 4 55976709 [G/C] NM_002253 KDR EXON Missense_E372D variant.80971 4 55976816 [A/G] NM_002253 KDR Silent variant.80972 4 55976821 [A/C] NM_002253 KDR EXON Missense_W364L 1KG_4_55976832 4 55976832 [D/I] NM_002253 KDR EXON exm400166 4 55976857 [A/G] NM_002253 KDR EXON Missense_A352V exm2256648 4 55980239 [T/C] NM_002253 KDR Silent rs7692791 4 55980239 [T/C] NM_002253 KDR Silent exm400186 4 55981043 [A/G] NM_002253 KDR EXON Missense_V219A exm400187 4 55981047 [T/C] NM_002253 KDR EXON Missense_V218I exm2241115 4 55981531 [T/C] NM_002253 KDR EXON Missense_V136M exm400197 4 55984813 [A/G] NM_002253 KDR EXON Missense_R106W exm400201 4 55984888 [T/C] NM_002253 KDR EXON Missense_D81N exm400205 4 55984931 [T/A] NM_002253 KDR EXON Missense_N66K rs6837735 4 55985815 [T/C] NM_002253 KDR Silent rs2071559 4 55992366 [A/G] rs10013228 4 55997340 [A/G] rs10517342 4 56002858 [A/G] rs12331507 4 56011889 [T/C] rs12331869 4 56012149 [A/G] rs2219469 4 56014425 [T/C] rs6816309 4 56027518 [T/C] rs1993583 4 56038620 [A/C] rs1993585 4 56038746 [A/G] rs2085621 4 56044260 [A/G] exm2265839 4 56044260 [A/G] rs13139198 4 56049425 [T/C] rs28664865 4 56054402 [T/C] rs10017184 4 56055617 [A/G] rs6843086 4 56134791 [A/G] rs4864976 4 56153732 [T/C] rs7661296 4 56155385 [T/C] rs4077725 4 56157142 [A/G] rs1399953 4 56179883 [A/G] rs6815518 4 56195626 [A/G] rs7664100 4 56222599 [A/G] NM_024592 SRD5A3 Silent exm400227 4 56230324 [A/G] NM_024592 SRD5A3 EXON Missense_V150I rs7663650 4 56231119 [T/C] NM_024592 SRD5A3 Silent exm400232 4 56233758 [A/C] NM_024592,NR_037969 SRD5A3,SRD5A3-AS1 EXON Missense_Y189S,Silent exm400239 4 56236226 [G/C] NM_024592,NR_037969 SRD5A3,SRD5A3-AS1 EXON Missense_H309D,Silent rs12641881 4 56267473 [T/C] NR_073070,NM_018475 TMEM165,TMEM165 Silent,Silent rs2048564 4 56274132 [A/G] NR_073070,NM_018475 TMEM165,TMEM165 Silent,Silent rs11943456 4 56276334 [T/C] NR_073070,NM_018475 TMEM165,TMEM165 Silent,Silent rs534654 4 56290220 [A/G] NR_073070,NM_018475 TMEM165,TMEM165 Silent,Silent rs1801260 4 56301369 [A/G] NM_004898,NM_001267843 CLOCK,CLOCK EXON Silent,Silent indel.80977 4 56301718 [I/D] NM_004898,NM_001267843 CLOCK,CLOCK EXON exm2076118 4 56304494 [T/A] NM_004898,NM_001267843 CLOCK,CLOCK EXON Missense_Q772H,Missense_Q772H exm400288 4 56308660 [T/A] NM_004898,NM_001267843 CLOCK,CLOCK EXON Missense_M682L,Missense_M682L exm400289 4 56308687 [T/C] NM_004898,NM_001267843 CLOCK,CLOCK EXON Missense_G673R,Missense_G673R exm2241120 4 56309862 [T/A] NM_004898,NM_001267843 CLOCK,CLOCK EXON Missense_S632T,Missense_S632T exm400293 4 56309925 [T/C] NM_004898,NM_001267843 CLOCK,CLOCK EXON Missense_M611V,Missense_M611V exm400294 4 56309927 [T/C] NM_004898,NM_001267843 CLOCK,CLOCK EXON Missense_G610E,Missense_G610E exm400295 4 56309937 [T/C] NM_004898,NM_001267843 CLOCK,CLOCK EXON Missense_I607V,Missense_I607V variant.80978 4 56314945 [T/C] NM_004898,NM_001267843 CLOCK,CLOCK Silent,Silent rs6855837 4 56319244 [T/G] NM_004898,NM_001267843 CLOCK,CLOCK EXON Missense_L395I,Missense_L395I exm400323 4 56319244 [T/G] NM_004898,NM_001267843 CLOCK,CLOCK EXON Missense_L395I,Missense_L395I exm400330 4 56325147 [T/C] NM_004898,NM_001267843 CLOCK,CLOCK EXON Missense_G235E,Missense_G235E exm400335 4 56325365 [C/G] NM_004898,NM_001267843 CLOCK,CLOCK EXON Missense_S208C,Missense_S208C exm400341 4 56329906 [T/C] NM_004898,NM_001267843 CLOCK,CLOCK EXON Missense_I169V,Missense_I169V rs11931061 4 56338793 [A/G] NM_004898,NM_001267843 CLOCK,CLOCK Silent,Silent exm400350 4 56344993 [T/C] NM_004898,NM_001267843 CLOCK,CLOCK EXON Missense_R82Q,Missense_R82Q rs3817444 4 56375981 [A/C] NM_004898,NM_001267843 CLOCK,CLOCK Silent,Silent rs4864548 4 56413803 [A/G] rs726967 4 56421713 [T/A] exm400369 4 56422799 [T/C] NM_152401 PDCL2 EXON Missense_M217I var_4_56428780 4 56428780 [A/C] NM_152401 PDCL2 Silent rs2412660 4 56445111 [T/C] NM_152401 PDCL2 Silent exm2076178 4 56447001 [T/C] NM_152401 PDCL2 EXON Missense_V69I rs13132085 4 56460085 [A/G] exm400394 4 56465318 [T/C] NM_006681 NMU EXON Missense_I174V exm400399 4 56466734 [T/G] NM_006681 NMU EXON Missense_F148L rs13434995 4 56467214 [A/G] NM_006681 NMU Silent rs1873091 4 56471433 [A/G] NM_006681 NMU Silent exm400403 4 56471441 [T/C] NM_006681 NMU Silent newrs141279583 4 56471442 [A/G] NM_006681 NMU EXON Synonymous_D145D indel.80986 4 56471482 [D/I] NM_006681 NMU EXON exm400410 4 56471515 [A/G] NM_006681 NMU EXON Missense_S121L variant.80987 4 56471518 [T/C] NM_006681 NMU Silent exm400412 4 56473476 [A/G] NM_006681 NMU EXON Missense_S117P exm400418 4 56475330 [T/C] NM_006681 NMU EXON Missense_E79G rs3805383 4 56475338 [A/G] NM_006681 NMU EXON Synonymous_N76N variant.80989 4 56482507 [A/G] NM_006681 NMU EXON Nonsense_Q73X rs9999653 4 56498249 [T/C] NM_006681 NMU Silent rs9312664 4 56499826 [T/G] NM_006681 NMU Silent rs3792703 4 56502178 [A/G] NM_006681 NMU Silent rs10002268 4 56519892 [T/C] rs2634464 4 56530796 [A/G] rs2634466 4 56539449 [T/C] rs4288064 4 56551185 [T/C] rs6856478 4 56551916 [A/G] rs7665149 4 56581678 [A/G] rs12648836 4 56583590 [A/G] rs7658424 4 56584126 [A/G] rs10014020 4 56596137 [T/G] rs3923477 4 56599963 [T/C] rs10031105 4 56609872 [T/C] rs4519853 4 56617884 [T/C] exm2265702 4 56621548 [A/G] rs7667111 4 56623447 [T/C] rs11725155 4 56625468 [A/G] rs12641893 4 56628525 [T/C] rs6816150 4 56629191 [T/C] rs753129 4 56668431 [A/G] rs2899048 4 56671211 [A/C] rs11736419 4 56677652 [T/C] exm-rs7679852 4 56683846 [T/C] rs2899039 4 56702299 [A/G] NR_003935 LOC644145 Silent rs1447050 4 56702995 [A/G] NR_003935 LOC644145 Silent rs4865038 4 56717548 [A/G] rs2412692 4 56718312 [T/C] exm2076218 4 56730529 [A/G] NM_018261,NM_178237,NM_001024924 EXOC1,EXOC1,EXOC1 EXON Missense_N131S,Missense_N131S,Missense_N131S newrs139662396 4 56730549 [T/G] NM_018261,NM_178237,NM_001024924 EXOC1,EXOC1,EXOC1 EXON Nonsense_E138X,Nonsense_E138X,Nonsense_E138X variant.80991 4 56730557 [A/G] NM_018261,NM_178237,NM_001024924 EXOC1,EXOC1,EXOC1 Silent,Silent,Silent exm400444 4 56734526 [A/G] NM_018261,NM_178237,NM_001024924 EXOC1,EXOC1,EXOC1 EXON Missense_Q147R,Missense_Q147R,Missense_Q147R exm400445 4 56734534 [A/G] NM_018261,NM_178237,NM_001024924 EXOC1,EXOC1,EXOC1 EXON Missense_T150A,Missense_T150A,Missense_T150A rs4865041 4 56742205 [A/G] NM_018261,NM_178237,NM_001024924 EXOC1,EXOC1,EXOC1 Silent,Silent,Silent exm400482 4 56757542 [A/G] NM_018261,NM_178237,NM_001024924 EXOC1,EXOC1,EXOC1 EXON Missense_S534N,Missense_S519N,Missense_S534N indel.80992 4 56759758 [I/D] NM_018261,NM_178237,NM_001024924 EXOC1,EXOC1,EXOC1 EXON rs1447045 4 56761548 [A/G] NM_018261,NM_178237,NM_001024924 EXOC1,EXOC1,EXOC1 Silent,Silent,Silent exm400492 4 56762938 [A/G] NM_018261,NM_178237,NM_001024924 EXOC1,EXOC1,EXOC1 EXON Missense_G670E,Missense_G655E,Missense_G670E newrs150979515 4 56765937 [T/C] NM_018261,NM_178237,NM_001024924 EXOC1,EXOC1,EXOC1 EXON Nonsense_R742X,Nonsense_R727X,Nonsense_R742X rs12509278 4 56780461 [A/C] rs2593075 4 56786589 [A/C] rs2593072 4 56808242 [T/C] exm400511 4 56818300 [A/G] NM_025009 CEP135 EXON Missense_T2A exm400512 4 56818360 [T/C] NM_025009 CEP135 EXON Missense_R22C exm400514 4 56819279 [T/C] NM_025009 CEP135 EXON Missense_R48W exm2274014 4 56819340 [T/C] NM_025009 CEP135 EXON Missense_L68S exm400520 4 56820411 [T/C] NM_025009 CEP135 EXON Missense_R112C exm400521 4 56820412 [A/G] NM_025009 CEP135 EXON Missense_R112H exm400522 4 56820418 [T/C] NM_025009 CEP135 EXON Missense_T114I exm400526 4 56820474 [A/G] NM_025009 CEP135 EXON Missense_K133E rs4865047 4 56821806 [T/C] NM_025009 CEP135 Silent exm400534 4 56825869 [A/C] NM_025009 CEP135 EXON Missense_E212D exm400535 4 56825871 [T/C] NM_025009 CEP135 EXON Missense_V213A rs2593068 4 56829482 [A/G] NM_025009 CEP135 Silent exm400541 4 56830467 [T/C] NM_025009 CEP135 EXON Nonsense_R243X variant.80999 4 56830474 [A/C] NM_025009 CEP135 EXON Nonsense_S245X exm400546 4 56831973 [C/G] NM_025009 CEP135 EXON Missense_R331T exm400547 4 56831974 [T/A] NM_025009 CEP135 EXON Missense_R331S exm400548 4 56831975 [T/C] NM_025009 CEP135 EXON Missense_H332Y exm400553 4 56835295 [A/G] NM_025009 CEP135 Silent exm400557 4 56837458 [A/G] NM_025009 CEP135 EXON Missense_E378G variant.81002 4 56837478 [T/G] NM_025009 CEP135 EXON Nonsense_E385X exm400559 4 56837545 [A/G] NM_025009 CEP135 EXON Missense_S407N exm400563 4 56840969 [A/G] NM_025009 CEP135 EXON Missense_R436Q exm400569 4 56841074 [A/G] NM_025009 CEP135 EXON Missense_R471K exm400571 4 56841097 [A/G] NM_025009 CEP135 EXON Missense_A479T variant.81005 4 56846307 [A/G] NM_025009 CEP135 Silent exm400580 4 56847441 [A/G] NM_025009 CEP135 EXON Missense_A559T exm400582 4 56847487 [T/C] NM_025009 CEP135 EXON Missense_A574V exm400585 4 56847510 [A/G] NM_025009 CEP135 EXON Missense_M582V rs6815354 4 56851023 [T/G] NM_025009 CEP135 Silent rs4526032 4 56855667 [A/G] NM_025009 CEP135 Silent exm400597 4 56865523 [A/G] NM_025009 CEP135 EXON Missense_I689V exm2076294 4 56865573 [T/G] NM_025009 CEP135 EXON Missense_E705D variant.81009 4 56865683 [T/C] NM_025009 CEP135 EXON Nonsense_Q718X rs6856844 4 56869217 [T/C] NM_025009 CEP135 Silent exm400604 4 56874517 [A/C] NM_025009 CEP135 EXON Missense_I769L exm400608 4 56875933 [A/G] NM_025009 CEP135 EXON Missense_R790H exm400613 4 56877606 [T/C] NM_025009 CEP135 EXON Missense_V845A variant.81012 4 56878113 [T/C] NM_025009 CEP135 EXON Nonsense_R922X exm400617 4 56878116 [A/G] NM_025009 CEP135 EXON Missense_E923K exm400622 4 56883817 [A/G] NM_025009 CEP135 EXON Missense_I936V exm400627 4 56883982 [A/G] NM_025009 CEP135 EXON Missense_M991V exm400629 4 56884001 [T/C] NM_025009 CEP135 EXON Missense_S997L exm400638 4 56885717 [T/A] NM_025009 CEP135 EXON Nonsense_K1071X exm400639 4 56886856 [A/G] NM_025009 CEP135 EXON Missense_R1077Q variant.81013 4 56886921 [T/C] NM_025009 CEP135 EXON Nonsense_Q1099X exm2269922 4 56910860 [T/C] rs2702334 4 56911058 [T/G] rs6839870 4 56924685 [A/G] rs2412717 4 56945325 [A/G] rs2412719 4 56948718 [T/G] rs12331742 4 56955556 [T/C] rs13121935 4 56966559 [A/G] rs17799799 4 56968671 [T/G] exm2269759 4 56977309 [T/C] rs11728328 4 56986929 [T/C] rs998064 4 56997350 [A/G] rs11133423 4 57001112 [T/C] rs13105877 4 57016020 [T/C] rs1479008 4 57017493 [A/G] rs11736698 4 57026928 [A/G] rs6818168 4 57028693 [A/C] rs2276901 4 57036306 [A/G] rs10213659 4 57039609 [T/C] NM_020722 KIAA1211 Silent rs11133431 4 57051461 [A/G] NM_020722 KIAA1211 Silent rs6856875 4 57053541 [A/G] NM_020722 KIAA1211 Silent rs11936569 4 57061470 [T/C] NM_020722 KIAA1211 Silent rs17744943 4 57061920 [A/G] NM_020722 KIAA1211 Silent rs4865063 4 57066601 [A/G] NM_020722 KIAA1211 Silent rs2045984 4 57067425 [A/G] NM_020722 KIAA1211 Silent rs1993916 4 57071639 [T/C] NM_020722 KIAA1211 Silent rs7692217 4 57087608 [A/G] NM_020722 KIAA1211 Silent rs140645 4 57096491 [T/C] NM_020722 KIAA1211 Silent rs7698073 4 57097742 [A/G] NM_020722 KIAA1211 Silent rs10023405 4 57103047 [A/G] NM_020722 KIAA1211 Silent rs11734492 4 57112435 [T/C] NM_020722 KIAA1211 Silent rs4865075 4 57113130 [A/G] NM_020722 KIAA1211 Silent rs7690043 4 57116323 [T/C] NM_020722 KIAA1211 Silent rs6842825 4 57125176 [T/C] NM_020722 KIAA1211 Silent rs534208 4 57127117 [T/C] NM_020722 KIAA1211 Silent rs6554340 4 57127848 [A/C] NM_020722 KIAA1211 Silent rs572969 4 57129103 [T/G] NM_020722 KIAA1211 Silent rs536002 4 57134800 [T/C] NM_020722 KIAA1211 Silent rs562803 4 57142047 [T/C] NM_020722 KIAA1211 Silent rs629242 4 57143037 [T/C] NM_020722 KIAA1211 Silent rs533178 4 57149650 [A/G] NM_020722 KIAA1211 Silent rs490591 4 57154790 [T/C] NM_020722 KIAA1211 Silent rs510411 4 57156379 [A/G] NM_020722 KIAA1211 Silent rs7663149 4 57162619 [A/G] NM_020722 KIAA1211 Silent exm400653 4 57164405 [T/C] NM_020722 KIAA1211 EXON Missense_R4W exm400655 4 57164441 [A/G] NM_020722 KIAA1211 EXON Missense_G16R exm400656 4 57164505 [A/G] NM_020722 KIAA1211 EXON Missense_K37R exm400659 4 57173713 [A/G] NM_020722 KIAA1211 EXON Missense_K45E exm400661 4 57173735 [A/G] NM_020722 KIAA1211 EXON Missense_R52Q exm400662 4 57173791 [A/G] NM_020722 KIAA1211 EXON Missense_E71K exm400665 4 57173822 [T/C] NM_020722 KIAA1211 EXON Missense_I81T exm400666 4 57173834 [A/G] NM_020722 KIAA1211 EXON Missense_Q85R exm400670 4 57173854 [A/G] NM_020722 KIAA1211 EXON Missense_A92T exm400671 4 57176832 [T/C] NM_020722 KIAA1211 EXON Missense_S96P rs2049087 4 57178227 [T/C] NM_020722 KIAA1211 Silent exm400688 4 57180407 [C/G] NM_020722 KIAA1211 EXON Missense_R247G exm400690 4 57180473 [A/C] NM_020722 KIAA1211 EXON Missense_L269I exm400714 4 57180701 [A/G] NM_020722 KIAA1211 EXON Missense_R345G exm400716 4 57180710 [G/C] NM_020722 KIAA1211 EXON Missense_E348Q exm400717 4 57180739 [C/G] NM_020722 KIAA1211 EXON Missense_E357D exm400725 4 57180920 [A/C] NM_020722 KIAA1211 EXON Missense_Q418K exm400726 4 57180968 [G/C] NM_020722 KIAA1211 EXON Missense_E434Q exm400741 4 57181310 [A/G] NM_020722 KIAA1211 EXON Missense_I548V exm400742 4 57181359 [T/C] NM_020722 KIAA1211 EXON Missense_T564M exm2076352 4 57181407 [T/C] NM_020722 KIAA1211 EXON Missense_P580L exm400756 4 57181632 [G/C] NM_020722 KIAA1211 EXON Missense_R655P exm400758 4 57181769 [A/G] NM_020722 KIAA1211 EXON Missense_G701S exm400766 4 57181833 [T/C] NM_020722 KIAA1211 EXON Missense_M722T exm400771 4 57181995 [T/C] NM_020722 KIAA1211 EXON Missense_S776L exm400776 4 57182294 [A/G] NM_020722 KIAA1211 EXON Missense_G876R exm400780 4 57182331 [T/G] NM_020722 KIAA1211 EXON Missense_S888I exm400782 4 57182448 [A/G] NM_020722 KIAA1211 EXON Missense_R927H exm400797 4 57182667 [T/C] NM_020722 KIAA1211 EXON Missense_P1000L exm400803 4 57182709 [A/G] NM_020722 KIAA1211 EXON Missense_R1014Q rs1401904 4 57187665 [T/G] NM_020722 KIAA1211 Silent exm400812 4 57189549 [T/C] NM_020722 KIAA1211 EXON Missense_P1065L exm2076371 4 57189604 [A/C] NM_020722 KIAA1211 EXON Missense_E1083D exm400814 4 57189623 [A/G] NM_020722 KIAA1211 EXON Missense_I1090V variant.81019 4 57189733 [T/C] NM_020722 KIAA1211 EXON Synonymous_N1126N rs2292983 4 57190242 [T/C] NM_020722 KIAA1211 Silent rs11733474 4 57194329 [T/G] NM_020722 KIAA1211 EXON Silent indel.81020 4 57204689 [I/D] NM_181806 AASDH EXON indel.81021 4 57204726 [I/D] NM_181806 AASDH EXON indel.81022 4 57204775 [D/I] NM_181806 AASDH EXON exm400844 4 57204777 [A/C] NM_181806 AASDH EXON Missense_Y1030D newrs140104028 4 57204940 [A/G] NM_181806 AASDH EXON Synonymous_T975T exm400856 4 57204945 [A/G] NM_181806 AASDH EXON Missense_S974P rs3733324 4 57204960 [A/G] NM_181806 AASDH Silent variant.81025 4 57209063 [A/G] NM_181806 AASDH EXON Nonsense_Q949X exm400862 4 57209071 [T/C] NM_181806 AASDH EXON Missense_C946Y exm400875 4 57211352 [T/C] NM_181806 AASDH EXON Missense_T865A exm400877 4 57211369 [A/G] NM_181806 AASDH EXON Missense_S859L rs13124696 4 57214366 [T/G] NM_181806 AASDH Silent newrs149271822 4 57215500 [T/C] NM_181806 AASDH EXON Nonsense_W806X indel.81028 4 57215540 [I/D] NM_181806 AASDH EXON exm400887 4 57215558 [T/C] NM_181806 AASDH EXON Missense_I787V exm400888 4 57215567 [T/C] NM_181806 AASDH EXON Missense_T784A newrs143390203 4 57215640 [T/C] NM_181806 AASDH EXON Nonsense_W759X exm400895 4 57215677 [A/G] NM_181806 AASDH EXON Missense_A747V exm400898 4 57215716 [A/G] NM_181806 AASDH EXON Missense_P734L exm400901 4 57215803 [A/G] NM_181806 AASDH EXON Missense_A705V exm400906 4 57215969 [T/C] NM_181806 AASDH EXON Missense_D650N exm400908 4 57215989 [T/G] NM_181806 AASDH EXON Missense_A643D exm400909 4 57215990 [T/C] NM_181806 AASDH EXON Missense_A643T exm400914 4 57216026 [T/C] NM_181806 AASDH EXON Missense_V631I exm400924 4 57219570 [T/C] NM_181806 AASDH EXON Missense_G526S exm400925 4 57219571 [A/G] NM_181806 AASDH EXON Synonymous_H525H exm2256651 4 57219595 [A/G] NM_181806 AASDH EXON Synonymous_I517I exm400934 4 57220222 [T/C] NM_181806 AASDH EXON Missense_I456V exm400936 4 57220269 [A/C] NM_181806 AASDH EXON Missense_L440W variant.81033 4 57220318 [A/G] NM_181806 AASDH EXON Nonsense_R424X exm400939 4 57220347 [T/C] NM_181806 AASDH EXON Missense_D414G exm400943 4 57221348 [T/C] NM_181806 AASDH EXON Missense_K368R rs6554354 4 57237683 [A/G] NM_181806 AASDH EXON Synonymous_S265S exm400956 4 57237688 [T/G] NM_181806 AASDH EXON Missense_T264P exm400958 4 57237713 [A/C] NM_181806 AASDH EXON Missense_S255R exm400964 4 57244314 [A/C] NM_181806 AASDH EXON Missense_R223L exm400969 4 57244392 [A/T] NM_181806 AASDH EXON Missense_H197L exm400971 4 57244414 [C/G] NM_181806 AASDH EXON Missense_H190D exm400972 4 57244449 [T/C] NM_181806 AASDH EXON Missense_E178G exm400984 4 57244512 [A/T] NM_181806 AASDH EXON Missense_D157V exm400993 4 57248659 [T/C] NM_181806 AASDH EXON Missense_E112G exm400996 4 57248714 [A/G] NM_181806 AASDH EXON Missense_P94S exm400997 4 57248716 [C/G] NM_181806 AASDH EXON Missense_P93R var_4_57250234 4 57250234 [A/C] NM_181806 AASDH Silent variant.81045 4 57250235 [T/C] NM_181806 AASDH Silent variant.81046 4 57250236 [T/C] NM_181806 AASDH EXON Missense_G77E exm401005 4 57250285 [T/C] NM_181806 AASDH EXON Missense_I61V exm401006 4 57250291 [A/G] NM_181806 AASDH EXON Missense_R59W exm401010 4 57250442 [A/T] NM_181806 AASDH EXON Missense_H8Q rs7671868 4 57256201 [T/C] rs4493603 4 57258537 [T/C] rs1060472 4 57259465 [A/C] rs17086746 4 57259999 [T/C] NM_002703 PPAT EXON Silent exm2256652 4 57261656 [A/C] NM_002703 PPAT EXON Synonymous_G472G exm401033 4 57267029 [A/G] NM_002703 PPAT EXON Missense_I312T exm401036 4 57267503 [T/C] NM_002703 PPAT EXON Missense_M293I rs1401908 4 57285163 [T/C] NM_002703 PPAT Silent rs13147824 4 57297996 [T/C] NM_002703 PPAT Silent rs1356787 4 57305202 [T/C] NM_006452,NM_001079525,NM_001079524 PAICS,PAICS,PAICS Silent,Silent,Silent exm401075 4 57307919 [A/G] NM_006452,NM_001079525,NM_001079524 PAICS,PAICS,PAICS EXON Missense_K36R,Missense_K36R,Missense_K36R variant.81049 4 57307963 [T/G] NM_006452,NM_001079525,NM_001079524 PAICS,PAICS,PAICS EXON Nonsense_E51X,Nonsense_E51X,Nonsense_E51X exm401077 4 57307970 [A/G] NM_006452,NM_001079525,NM_001079524 PAICS,PAICS,PAICS EXON Missense_K53R,Missense_K53R,Missense_K53R newrs146423280 4 57312522 [A/G] NM_006452,NM_001079525,NM_001079524 PAICS,PAICS,PAICS Silent,Silent,Silent exm401085 4 57313029 [T/C] NM_006452,NM_001079525,NM_001079524 PAICS,PAICS,PAICS EXON Missense_L128S,Missense_L135S,Missense_L128S exm401086 4 57314612 [G/C] NM_006452,NM_001079525,NM_001079524 PAICS,PAICS,PAICS EXON Missense_S141C,Missense_S148C,Missense_S141C indel.81051 4 57314673 [D/I] NM_006452,NM_001079525,NM_001079524 PAICS,PAICS,PAICS EXON exm401095 4 57314905 [A/C] NM_006452,NM_001079525,NM_001079524 PAICS,PAICS,PAICS EXON Missense_K201N,Missense_K208N,Missense_K201N exm401104 4 57318182 [T/C] NM_006452,NM_001079525,NM_001079524 PAICS,PAICS,PAICS EXON Missense_P306S,Missense_P313S,Missense_P306S exm401125 4 57333859 [T/C] NM_001267722,NM_006947 SRP72,SRP72 EXON Missense_R20W,Missense_R20W exm401129 4 57335830 [A/C] NM_001267722,NM_006947 SRP72,SRP72 EXON Missense_N41H,Missense_N41H exm401133 4 57335900 [T/C] NM_001267722,NM_006947 SRP72,SRP72 EXON Missense_A64V,Missense_A64V indel.81054 4 57335938 [I/D] NM_001267722,NM_006947 SRP72,SRP72 EXON variant.81055 4 57340232 [T/G] NM_001267722,NM_006947 SRP72,SRP72 EXON Nonsense_E123X,Nonsense_E123X exm401142 4 57340359 [T/C] NM_001267722,NM_006947 SRP72,SRP72 EXON Missense_V165A,Missense_V165A exm401152 4 57344588 [A/G] NM_001267722,NM_006947 SRP72,SRP72 EXON Silent,Missense_H229R exm401166 4 57350915 [A/G] NM_001267722,NM_006947 SRP72,SRP72 EXON Missense_R263H,Missense_R324H indel.81056 4 57350953 [D/I] NM_001267722,NM_006947 SRP72,SRP72 EXON exm2076507 4 57355623 [A/G] NM_001267722,NM_006947 SRP72,SRP72 EXON Missense_A371T,Missense_A432T exm401173 4 57355648 [A/G] NM_001267722,NM_006947 SRP72,SRP72 EXON Missense_Q379R,Missense_Q440R exm401177 4 57356577 [A/G] NM_001267722,NM_006947 SRP72,SRP72 EXON Missense_I406V,Missense_I467V var_4_57356812 4 57356812 [A/G] NM_001267722,NM_006947 SRP72,SRP72 Silent,Silent exm2076512 4 57357683 [T/C] NM_001267722,NM_006947 SRP72,SRP72 EXON Missense_I469T,Missense_I530T rs11934479 4 57361627 [A/C] NM_001267722,NM_006947 SRP72,SRP72 Silent,Silent rs10015634 4 57362827 [A/G] NM_001267722,NM_006947 SRP72,SRP72 Silent,Silent indel.81058 4 57366735 [D/I] NM_001267722,NM_006947 SRP72,SRP72 EXON exm401203 4 57384859 [A/C] NM_206919 ARL9 EXON Missense_P11H exm401205 4 57384865 [A/G] NM_206919 ARL9 EXON Missense_R13Q exm401210 4 57384936 [T/C] NM_206919 ARL9 EXON Nonsense_R37X variant.81063 4 57385024 [A/G] NM_206919 ARL9 Silent rs4391105 4 57387706 [A/G] NM_206919 ARL9 Silent exm401215 4 57389897 [A/G] NM_206919 ARL9 EXON Missense_H76R indel.81064 4 57389959 [D/I] NM_206919 ARL9 EXON rs4865115 4 57397910 [T/G] NM_001256475 THEGL Silent rs4280802 4 57398752 [T/C] NM_001256475 THEGL Silent rs4473708 4 57410548 [A/C] NM_001256475 THEGL Silent rs7691920 4 57418400 [A/G] NM_001256475 THEGL Silent rs7686452 4 57426688 [T/C] NM_001256475 THEGL Silent rs4600976 4 57442004 [A/C] NM_001256475 THEGL Silent rs9996055 4 57444413 [A/G] NM_001256475 THEGL Silent rs4345238 4 57450848 [A/C] NM_001256475 THEGL Silent rs7670824 4 57457918 [A/G] NM_001256475 THEGL Silent rs7699631 4 57477794 [A/G] rs4865131 4 57498446 [T/C] rs7667406 4 57503077 [A/G] exm401222 4 57514924 [C/G] NM_001145459,NM_139212,NM_032495,NM_001145460,NM_139211 HOPX,HOPX,HOPX,HOPX,HOPX EXON Missense_E62Q,Missense_E62Q,Missense_E80Q,Silent,Missense_E62Q exm401224 4 57514947 [T/C] NM_001145459,NM_139212,NM_032495,NM_001145460,NM_139211 HOPX,HOPX,HOPX,HOPX,HOPX EXON Missense_R54H,Missense_R54H,Missense_R72H,Silent,Missense_R54H exm401226 4 57516849 [T/C] NM_001145459,NM_139212,NM_032495,NM_001145460,NM_139211 HOPX,HOPX,HOPX,HOPX,HOPX EXON Silent,Silent,Silent,Missense_E110K,Silent exm401228 4 57516896 [A/G] NM_001145459,NM_139212,NM_032495,NM_001145460,NM_139211 HOPX,HOPX,HOPX,HOPX,HOPX EXON Silent,Silent,Silent,Missense_P94L,Silent rs4406078 4 57521325 [T/C] NM_001145459,NM_139212,NM_032495,NM_001145460,NM_139211 HOPX,HOPX,HOPX,HOPX,HOPX Silent,Silent,Silent,Silent,Silent newrs60385558 4 57523892 [T/C] NM_139212,NM_032495,NM_001145460 HOPX,HOPX,HOPX Silent,Silent,Silent rs4864593 4 57525831 [T/C] NM_139212,NM_032495,NM_001145460 HOPX,HOPX,HOPX Silent,Silent,Silent rs6817875 4 57526349 [A/C] NM_139212,NM_032495,NM_001145460 HOPX,HOPX,HOPX Silent,Silent,Silent rs4864594 4 57529014 [A/C] NM_139212,NM_032495,NM_001145460 HOPX,HOPX,HOPX Silent,Silent,Silent rs4865142 4 57549583 [T/C] rs6829867 4 57549603 [T/C] rs17087059 4 57550335 [A/G] rs899628 4 57552810 [A/G] rs6828831 4 57555103 [T/C] rs9968381 4 57558426 [T/C] rs6845520 4 57564095 [A/G] rs11729059 4 57564293 [T/G] exm2265703 4 57565153 [A/G] rs6816355 4 57575299 [T/C] rs11725915 4 57586154 [T/C] rs973031 4 57587795 [T/C] rs4864599 4 57597210 [A/G] rs1842295 4 57608969 [T/C] rs6818605 4 57624037 [A/G] rs6811987 4 57629710 [T/C] rs2008139 4 57652380 [A/G] rs13102386 4 57680805 [T/C] NR_073418,NM_001271718,NM_001271722,NR_073419,NM_001271721,NM_021114,NM_001271719,NM_001271720,NR_073417 SPINK2,SPINK2,SPINK2,SPINK2,SPINK2,SPINK2,SPINK2,SPINK2,SPINK2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs812991 4 57686657 [A/G] NR_073418,NM_001271718,NM_001271722,NR_073419,NM_001271721,NM_021114,NM_001271719,NM_001271720,NR_073417 SPINK2,SPINK2,SPINK2,SPINK2,SPINK2,SPINK2,SPINK2,SPINK2,SPINK2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs781542 4 57687304 [A/G] NR_073418,NM_001271718,NM_001271722,NR_073419,NM_001271721,NM_021114,NM_001271719,NM_001271720,NR_073417 SPINK2,SPINK2,SPINK2,SPINK2,SPINK2,SPINK2,SPINK2,SPINK2,SPINK2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1708768 4 57690713 [A/G] rs1708772 4 57694352 [A/G] rs7668497 4 57700528 [A/G] rs781571 4 57705970 [T/C] rs781565 4 57707469 [A/G] rs13106200 4 57718195 [A/G] rs1708774 4 57726274 [T/C] rs17087206 4 57731189 [A/G] rs12650282 4 57733604 [T/C] rs11730321 4 57738469 [T/C] rs2170073 4 57746825 [A/G] rs6848165 4 57749080 [T/C] rs9998008 4 57766052 [A/G] rs3806746 4 57773330 [T/C] exm401274 4 57777078 [A/G] NM_005612,NM_001193508 REST,REST EXON Missense_G92R,Missense_G92R exm401282 4 57777171 [G/C] NM_005612,NM_001193508 REST,REST EXON Missense_P123A,Missense_P123A exm401285 4 57777226 [C/G] NM_005612,NM_001193508 REST,REST EXON Missense_P141R,Missense_P141R rs1713985 4 57786450 [T/G] NM_005612,NM_001193508 REST,REST Silent,Silent exm401328 4 57796619 [A/G] NM_005612,NM_001193508 REST,REST EXON Missense_G532D,Missense_G532D exm401329 4 57796639 [T/C] NM_005612,NM_001193508 REST,REST EXON Missense_S539P,Missense_S539P exm401334 4 57796664 [T/C] NM_005612,NM_001193508 REST,REST EXON Missense_V547A,Missense_V547A exm401344 4 57796913 [T/C] NM_005612,NM_001193508 REST,REST EXON Missense_P630L,Missense_P630L exm401348 4 57796957 [T/C] NM_005612,NM_001193508 REST,REST EXON Missense_R645W,Missense_R645W exm401350 4 57796970 [A/G] NM_005612,NM_001193508 REST,REST EXON Missense_D649G,Missense_D649G exm401355 4 57797037 [T/G] NM_005612,NM_001193508 REST,REST EXON Missense_E671D,Missense_E671D exm401358 4 57797089 [T/C] NM_005612,NM_001193508 REST,REST EXON Missense_P689S,Missense_P689S exm401359 4 57797100 [T/G] NM_005612,NM_001193508 REST,REST EXON Missense_E692D,Missense_E692D exm401375 4 57797350 [G/C] NM_005612,NM_001193508 REST,REST EXON Missense_P776A,Missense_P776A exm401383 4 57797414 [T/C] NM_005612,NM_001193508 REST,REST EXON Missense_P797L,Missense_P797L rs3796529 4 57797414 [T/C] NM_005612,NM_001193508 REST,REST EXON Missense_P797L,Missense_P797L exm401387 4 57797467 [T/C] NM_005612,NM_001193508 REST,REST EXON Missense_P815S,Missense_P815S exm401390 4 57797510 [A/G] NM_005612,NM_001193508 REST,REST EXON Missense_E829G,Missense_E829G exm401399 4 57797759 [A/C] NM_005612,NM_001193508 REST,REST EXON Missense_N912T,Missense_N912T exm2076591 4 57797875 [A/G] NM_005612,NM_001193508 REST,REST EXON Missense_T951A,Missense_T951A exm401405 4 57797879 [A/G] NM_005612,NM_001193508 REST,REST EXON Missense_D952G,Missense_D952G exm2256654 4 57798174 [G/C] NM_005612,NM_001193508 REST,REST EXON Synonymous_A1050A,Synonymous_A1050A rs708547 4 57821309 [T/C] exm-rs708547 4 57821309 [T/C] exm-rs17081935 4 57823476 [T/C] rs7668814 4 57825190 [T/C] exm401423 4 57829675 [T/C] NM_032313 NOA1 EXON Missense_K680E exm401425 4 57829704 [T/C] NM_032313 NOA1 EXON Missense_R670H exm401430 4 57829782 [T/C] NM_032313 NOA1 EXON Missense_R644Q exm401432 4 57830655 [A/G] NM_032313 NOA1 EXON Missense_P601L rs17087335 4 57838583 [T/G] NM_032313 NOA1 Silent rs1107674 4 57838690 [T/G] NM_032313 NOA1 Silent rs1107675 4 57838707 [T/C] NM_032313 NOA1 Silent variant.81071 4 57839309 [T/C] NM_032313 NOA1 Silent exm401443 4 57839314 [A/G] NM_032313 NOA1 EXON Synonymous_C505C exm401446 4 57839405 [T/C] NM_032313 NOA1 EXON Missense_H475R exm401454 4 57840159 [T/C] NM_032313 NOA1 EXON Missense_I392V exm401473 4 57843252 [A/G] NM_032313 NOA1 EXON Missense_T167M exm401474 4 57843291 [C/G] NM_032313 NOA1 EXON Missense_G154A exm401488 4 57843607 [G/C] NM_032313 NOA1 EXON Missense_G49R exm401492 4 57843684 [A/G] NM_032313 NOA1 EXON Missense_A23V exm401494 4 57843732 [T/G] NM_032313 NOA1 EXON Missense_P7Q variant.81078 4 57856966 [T/G] NM_000938 POLR2B EXON Nonsense_E49X variant.81079 4 57856987 [T/C] NM_000938 POLR2B EXON Nonsense_Q56X exm401509 4 57860577 [A/G] NM_000938 POLR2B EXON Missense_Y84C exm2076638 4 57860862 [T/G] NM_000938 POLR2B EXON Missense_G136C rs1718837 4 57871203 [T/C] NM_000938 POLR2B Silent exm2256655 4 57871486 [A/G] NM_000938 POLR2B EXON Synonymous_G325G indel.81080 4 57871839 [I/D] NM_000938 POLR2B EXON rs7661194 4 57872421 [T/C] NM_000938 POLR2B Silent rs1713982 4 57881715 [A/G] NM_000938 POLR2B EXON Synonymous_T616T rs13146153 4 57887252 [A/G] NM_000938 POLR2B Silent rs7440152 4 57889288 [A/G] NM_000938 POLR2B Silent exm2276861 4 57889873 [A/C] NM_000938 POLR2B EXON Synonymous_R938R newrs138731674 4 57889873 [T/C] NM_000938 POLR2B EXON Nonsense_R938X variant.81085 4 57891567 [T/C] NM_000938 POLR2B EXON Nonsense_R1035X variant.81086 4 57896570 [T/G] NM_000938 POLR2B Silent exm401577 4 57897491 [T/C] NM_001553 IGFBP7 EXON Missense_E281K exm401579 4 57898616 [A/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 EXON Missense_L269V,Missense_L269V exm401584 4 57899380 [T/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 EXON Missense_E228G,Missense_E228G exm401585 4 57899425 [T/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 EXON Missense_R213Q,Missense_R213Q rs12642622 4 57902276 [A/G] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs1277311 4 57902761 [T/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs11573119 4 57904852 [T/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs11133474 4 57905807 [T/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent exm401596 4 57907088 [G/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 EXON Missense_V163L,Missense_V163L rs6852762 4 57910214 [A/G] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs3821996 4 57915267 [A/G] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs1401189 4 57919919 [T/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs1713959 4 57922990 [T/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs17761305 4 57934091 [T/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs4865174 4 57934971 [A/G] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs10516163 4 57937511 [T/G] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs1714014 4 57941160 [T/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs1718848 4 57942581 [T/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs1714010 4 57942649 [A/G] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs3806744 4 57945439 [A/G] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs1718858 4 57948187 [A/G] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs1718861 4 57949699 [T/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent exm2256656 4 57953278 [A/C] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs4865181 4 57963469 [A/G] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs10004910 4 57968444 [A/G] NM_001553,NM_001253835 IGFBP7,IGFBP7 Silent,Silent rs4327548 4 57999268 [A/G] NR_034081 LOC255130 Silent rs4444899 4 58005459 [A/G] NR_034081 LOC255130 Silent rs9996990 4 58013351 [T/C] NR_034081 LOC255130 Silent rs7663355 4 58015591 [T/C] NR_034081 LOC255130 Silent rs4579186 4 58015899 [A/G] NR_034081 LOC255130 Silent rs6817385 4 58020126 [T/C] NR_034081 LOC255130 Silent rs10033422 4 58027081 [A/G] NR_034081 LOC255130 Silent rs12641603 4 58031795 [A/G] NR_034081 LOC255130 Silent rs4412045 4 58041751 [T/C] NR_034081 LOC255130 Silent rs13145188 4 58055260 [T/C] NR_034081 LOC255130 Silent rs17497594 4 58056503 [T/C] NR_034081 LOC255130 Silent exm2269923 4 58064464 [T/C] NR_034081 LOC255130 Silent rs10014421 4 58064464 [T/C] NR_034081 LOC255130 Silent rs2079916 4 58072932 [A/G] rs1860623 4 58081590 [A/G] rs1860621 4 58087036 [T/C] rs7680799 4 58088414 [T/C] rs2109589 4 58094886 [T/C] rs9999844 4 58102553 [A/G] rs2191567 4 58104161 [T/C] rs7694552 4 58105688 [T/C] rs10001448 4 58111647 [A/G] rs11731338 4 58116921 [A/G] rs17087830 4 58121668 [T/C] rs4865209 4 58136668 [A/G] rs10018606 4 58138412 [A/G] rs1476844 4 58139970 [T/C] rs4865211 4 58146502 [A/G] rs7675913 4 58148600 [A/G] rs17498431 4 58150716 [A/G] rs1524698 4 58156935 [A/C] rs6840839 4 58170360 [A/C] rs2691402 4 58171793 [T/G] rs2535523 4 58178243 [T/C] rs1524686 4 58179993 [T/C] rs2535503 4 58195196 [T/C] rs1404370 4 58196685 [T/C] rs2177642 4 58197731 [A/G] rs1524672 4 58199809 [A/G] rs10021529 4 58202128 [T/C] rs1404372 4 58203605 [A/C] rs2222560 4 58216884 [A/G] rs6811739 4 58219609 [T/G] rs1608687 4 58240010 [T/C] rs13129010 4 58261728 [A/G] rs10009611 4 58263866 [A/C] rs1012189 4 58272001 [A/G] rs1012188 4 58272082 [T/C] rs839021 4 58289649 [T/C] rs6554464 4 58296826 [T/C] rs940578 4 58298856 [A/G] rs7668422 4 58299763 [T/C] rs11937087 4 58314264 [A/G] rs6855484 4 58320842 [A/G] rs13102887 4 58350801 [T/G] rs1345040 4 58352237 [A/G] rs4865234 4 58355015 [A/G] rs11735670 4 58355701 [T/C] rs1372094 4 58381197 [T/C] rs6829715 4 58393319 [T/C] rs2028435 4 58408330 [T/G] rs17088360 4 58412269 [T/C] rs17088371 4 58413456 [A/G] rs4608868 4 58470680 [A/G] rs6840178 4 58477962 [T/C] rs4599476 4 58480567 [T/G] rs11731283 4 58484885 [T/G] rs1469235 4 58491683 [A/G] rs10517402 4 58518911 [T/C] rs4865257 4 58526596 [T/C] rs4276345 4 58546539 [A/C] rs1425309 4 58550290 [T/C] rs343503 4 58560611 [A/G] rs11736736 4 58573210 [A/G] rs9790425 4 58598522 [A/G] exm2261733 4 58603583 [A/G] rs1509535 4 58604281 [T/C] rs343549 4 58614509 [T/C] rs189353 4 58646143 [T/G] rs1509528 4 58655901 [T/C] rs6831719 4 58662408 [A/G] rs11933998 4 58669378 [A/C] rs951232 4 58670994 [T/C] exm2256659 4 58694609 [A/G] rs10011661 4 58698487 [T/C] rs3843894 4 58700901 [T/C] rs10020207 4 58706462 [T/C] rs1480319 4 58707016 [A/G] rs922605 4 58714407 [A/G] rs1480301 4 58727290 [A/G] rs10517417 4 58750042 [A/G] rs10517418 4 58768454 [T/C] rs9884270 4 58770663 [A/G] rs9992403 4 58772260 [T/C] rs7657187 4 58793000 [T/C] rs1480308 4 58796884 [T/G] rs6554506 4 58807069 [T/G] rs11133536 4 58809621 [T/G] rs10001131 4 58810492 [T/C] rs9637716 4 58811360 [T/C] rs10015020 4 58827259 [A/G] rs11936360 4 58832860 [T/C] rs13134586 4 58857424 [A/G] rs3913924 4 58860052 [A/C] rs270464 4 58861963 [T/G] rs10013416 4 58900069 [T/C] rs1948974 4 58908653 [A/G] rs1380196 4 58913500 [A/C] rs270233 4 58933127 [A/G] rs270245 4 58940551 [T/G] rs1507583 4 58955664 [A/G] rs17290180 4 58960389 [T/G] rs2610166 4 58961150 [A/G] rs1911605 4 58967480 [T/C] rs13115208 4 58995218 [A/G] rs12506735 4 59003803 [A/G] rs1433409 4 59006847 [A/G] rs1433408 4 59006971 [A/G] exm-rs10517437 4 59008412 [A/G] rs3943387 4 59028886 [A/G] rs12646025 4 59035958 [T/C] rs10005074 4 59042209 [T/C] rs11940034 4 59091204 [T/C] rs13105776 4 59133280 [T/C] rs2553296 4 59141562 [T/C] rs17237658 4 59156538 [T/C] rs2570069 4 59156851 [A/G] rs11937322 4 59180928 [A/G] rs12648067 4 59211129 [A/G] rs17089256 4 59217565 [T/C] rs1522094 4 59221416 [T/C] rs10015715 4 59252047 [T/C] rs12642751 4 59273187 [A/G] rs2140069 4 59279104 [A/G] rs935999 4 59284649 [T/G] rs17218168 4 59319223 [A/G] rs2037458 4 59321537 [A/G] rs4864655 4 59362260 [T/C] rs10007576 4 59369235 [T/C] rs17290361 4 59369515 [A/C] rs11937554 4 59375202 [T/C] rs10007616 4 59375444 [A/C] rs1453939 4 59377333 [A/C] rs11133570 4 59388759 [A/G] rs9999484 4 59406749 [T/C] rs6818886 4 59408250 [A/G] rs4242018 4 59413750 [T/C] rs10517441 4 59419273 [T/C] rs13114819 4 59423332 [A/G] rs9996466 4 59436076 [T/C] rs282720 4 59445288 [T/C] rs12647295 4 59481416 [T/G] rs282706 4 59502974 [A/G] rs282708 4 59503726 [A/G] rs1565822 4 59515454 [A/G] rs1961726 4 59541966 [T/C] rs10033443 4 59548868 [T/C] rs1828204 4 59550505 [T/C] rs10004285 4 59559715 [A/G] rs13115335 4 59572909 [A/G] rs17089553 4 59573186 [T/C] rs9993637 4 59605202 [T/C] rs17290480 4 59606624 [T/C] rs1868416 4 59621853 [A/G] rs10517447 4 59627178 [A/G] exm2269760 4 59630002 [T/C] rs10011039 4 59636452 [T/G] rs1992941 4 59673037 [T/C] rs1449031 4 59673650 [A/G] rs10517450 4 59677511 [T/C] rs12502978 4 59710106 [A/G] rs1868419 4 59713040 [T/C] rs9998639 4 59715417 [T/C] rs7685041 4 59720431 [A/G] kgp5078954 4 59721306 [T/C] kgp11900759 4 59725460 [T/C] rs9997522 4 59799872 [A/C] rs7436625 4 59806257 [T/C] rs7440797 4 59809260 [T/C] exm2269761 4 59812420 [T/G] rs9685766 4 59813594 [T/C] rs6551609 4 59819545 [T/C] rs13101913 4 59833499 [A/G] rs6819968 4 59835266 [A/G] exm2265841 4 59838120 [A/G] rs11932542 4 59842999 [A/G] rs9942216 4 59843855 [A/G] rs11931812 4 59844473 [T/C] rs11734556 4 59847627 [T/C] rs13112623 4 59866889 [T/C] rs11733784 4 59869101 [T/C] rs12649958 4 59878013 [T/C] rs6849738 4 59889898 [T/G] rs10002245 4 59899352 [T/C] rs13111434 4 59906337 [T/C] rs10452251 4 59906632 [A/G] rs2036098 4 59916674 [T/C] rs2333727 4 59950731 [A/G] rs13151697 4 59980062 [T/C] rs357833 4 59988095 [A/G] rs13134467 4 59998696 [A/G] rs13347305 4 60013919 [T/C] rs357809 4 60016378 [T/C] rs2270970 4 60041691 [T/C] rs4489000 4 60059161 [A/C] rs7664607 4 60060761 [T/C] rs1354254 4 60082188 [T/C] rs12646524 4 60096626 [T/C] rs6855237 4 60099156 [T/C] rs990147 4 60106143 [T/C] rs1502784 4 60112029 [A/G] rs7663467 4 60129168 [A/G] rs7693572 4 60143686 [T/C] rs13134179 4 60149217 [A/G] rs6836709 4 60156592 [A/G] rs10014071 4 60179526 [A/G] rs7683276 4 60192397 [A/G] rs17290640 4 60192809 [A/G] rs10008176 4 60193870 [T/C] rs10022990 4 60217601 [T/C] rs1119950 4 60228517 [A/G] rs10866134 4 60239646 [A/G] rs7681982 4 60257454 [T/C] rs1606137 4 60268638 [A/G] rs1079463 4 60275069 [T/C] rs1511404 4 60283466 [A/C] rs4860580 4 60325010 [T/C] rs1858317 4 60340339 [A/G] rs1511408 4 60344490 [A/G] rs1117491 4 60347355 [A/G] rs17238233 4 60356966 [T/C] rs6811282 4 60367869 [T/C] rs10007020 4 60391854 [T/C] rs11131575 4 60393064 [A/G] rs11131579 4 60401751 [A/C] rs1913311 4 60405703 [T/G] rs1513536 4 60428730 [A/G] rs17290779 4 60442490 [T/C] rs970313 4 60458820 [A/G] rs988744 4 60480763 [T/C] rs6842739 4 60489510 [A/G] rs1825238 4 60493470 [T/G] rs10013542 4 60512343 [T/C] rs7655641 4 60521175 [A/C] rs1482704 4 60529334 [A/G] rs35712489 4 60536829 [T/C] rs1032030 4 60538549 [T/C] rs9991718 4 60568412 [T/G] rs11936764 4 60573507 [A/G] rs6552029 4 60578593 [T/C] rs2880170 4 60581437 [A/G] rs1023948 4 60598813 [T/C] rs17089786 4 60616622 [T/C] rs1507132 4 60619937 [A/G] rs7699730 4 60621100 [A/C] rs4600947 4 60627772 [A/G] rs9312186 4 60674843 [T/C] rs17089834 4 60680656 [T/C] rs1010849 4 60687024 [T/C] rs4401481 4 60715255 [T/C] rs6815012 4 60730605 [A/G] exm2265707 4 60739796 [A/G] exm-rs10517480 4 60748829 [A/T] rs13131266 4 60751925 [A/C] rs7655523 4 60757025 [T/C] kgp2795744 4 60764327 [A/G] kgp8795879 4 60764949 [A/G] rs28823272 4 60815480 [T/G] rs6833033 4 60825149 [T/G] rs349247 4 60829098 [T/G] rs349211 4 60844380 [T/C] rs11946874 4 60854084 [A/G] rs6551510 4 60856792 [A/G] rs7674332 4 60860482 [A/G] rs12645408 4 60879952 [T/C] rs10000971 4 60906671 [T/G] rs12644729 4 60929487 [T/C] rs1109023 4 60946148 [A/C] rs6832310 4 60946433 [A/G] exm2264093 4 60960273 [A/C] rs17291120 4 60965262 [A/G] rs7695675 4 60969122 [A/G] rs6551519 4 60984101 [T/G] rs12511090 4 61007315 [A/G] rs10049506 4 61008776 [T/C] rs4262013 4 61041872 [A/G] rs2165479 4 61065522 [A/G] rs7681003 4 61074614 [T/G] rs6820884 4 61080364 [A/C] rs4277806 4 61107712 [T/C] rs3924779 4 61110086 [A/G] rs13434729 4 61141856 [T/C] rs2333895 4 61143085 [A/G] rs717252 4 61163718 [T/C] rs7672373 4 61173570 [A/G] rs4412021 4 61207691 [T/C] rs17090019 4 61208481 [T/G] rs10866099 4 61211180 [A/C] rs6551541 4 61220878 [T/C] rs10019682 4 61228770 [T/C] rs1463351 4 61233219 [T/C] rs11946495 4 61238161 [T/G] rs4318679 4 61249246 [A/G] rs6852865 4 61251815 [T/C] exm2269924 4 61258122 [T/C] rs6551546 4 61265932 [A/G] rs1869765 4 61274340 [T/C] rs6853921 4 61290298 [T/C] rs980051 4 61296108 [T/C] rs3911391 4 61305996 [T/C] rs17219303 4 61316400 [T/G] rs925395 4 61317176 [A/G] rs6551553 4 61321240 [A/G] rs994342 4 61339224 [T/C] rs10021608 4 61352529 [A/G] rs997107 4 61356693 [A/G] rs4602520 4 61360284 [T/C] rs11728006 4 61360679 [A/C] exm2265708 4 61370159 [A/G] rs6852374 4 61370159 [A/G] rs1553862 4 61395456 [A/C] rs1912682 4 61404788 [T/C] rs12645705 4 61422632 [T/C] rs13103913 4 61440626 [T/C] rs13125772 4 61443447 [T/G] rs11131268 4 61484551 [A/C] rs2028315 4 61504139 [T/C] rs975734 4 61507007 [A/G] rs17090230 4 61513458 [T/C] rs7669975 4 61514117 [T/G] rs1439317 4 61528903 [T/C] rs10024649 4 61529037 [T/G] rs1439299 4 61533457 [T/C] rs7662547 4 61539305 [A/G] rs11932579 4 61552142 [T/C] rs4535361 4 61552933 [A/G] rs9884903 4 61555937 [A/G] exm-rs12650513 4 61560936 [A/G] rs4309865 4 61590894 [T/C] rs10012618 4 61592332 [T/C] rs4510484 4 61603973 [A/G] rs4527515 4 61612126 [A/G] rs12504712 4 61626653 [T/C] rs9995171 4 61634572 [A/G] rs4272045 4 61663916 [A/G] rs17081884 4 61675083 [T/C] rs1378360 4 61688725 [A/C] rs10012645 4 61729184 [A/G] rs1455268 4 61738094 [T/C] rs6826243 4 61739960 [T/C] rs7670391 4 61762647 [A/C] rs716167 4 61767946 [T/C] rs10000438 4 61773762 [T/C] rs6851977 4 61799685 [T/C] rs2604632 4 61803301 [A/G] rs2631054 4 61809210 [A/G] rs11131284 4 61823479 [A/G] rs12642913 4 61825087 [A/G] rs1486492 4 61830190 [A/G] rs1486493 4 61836190 [T/C] rs8180200 4 61846956 [A/G] rs10014515 4 61847376 [T/C] rs12641314 4 61860937 [T/C] rs6831772 4 61866264 [T/C] rs4860078 4 61900003 [T/C] exm-rs10866111 4 61900046 [A/G] rs12501471 4 61903366 [A/G] rs6813806 4 61908999 [T/C] rs725761 4 61911862 [T/C] rs966084 4 61917658 [T/C] rs17090351 4 61921234 [A/G] rs9884795 4 61946476 [A/G] rs7699691 4 61948488 [T/C] rs10030728 4 61950476 [A/G] exm-rs4599440 4 61966273 [T/C] rs4599440 4 61966273 [T/C] rs1449618 4 61975533 [A/G] exm2256668 4 61978764 [A/C] rs2053864 4 61978764 [A/C] rs10517524 4 61982096 [A/G] rs2034448 4 61984568 [T/C] rs1900957 4 61992249 [A/G] rs10866114 4 61998057 [T/G] rs930668 4 62004333 [A/G] rs1470645 4 62007979 [T/C] rs12186207 4 62015576 [A/C] rs1375681 4 62037705 [A/G] rs1449613 4 62044559 [A/G] rs998666 4 62052467 [A/C] rs6841219 4 62061051 [T/C] rs6854914 4 62076443 [A/G] rs6845545 4 62080215 [A/G] rs6825047 4 62084538 [A/G] rs11131314 4 62106989 [T/C] rs1979111 4 62113587 [T/C] rs974541 4 62121348 [A/G] rs2342456 4 62124053 [A/C] rs1505663 4 62132090 [A/G] rs1505664 4 62132345 [A/G] exm2265709 4 62136915 [A/G] rs12505990 4 62140177 [A/G] rs9312075 4 62143023 [A/G] rs2880363 4 62167906 [A/G] rs2135242 4 62188118 [A/C] rs1505679 4 62198201 [T/C] rs10032294 4 62208968 [T/C] rs11729528 4 62210266 [A/G] rs4860411 4 62229733 [A/G] rs6858223 4 62240526 [A/G] rs9312076 4 62251077 [T/C] exm2269925 4 62256581 [T/C] rs2061266 4 62258836 [A/G] rs13127162 4 62269277 [T/C] rs1350246 4 62276356 [A/G] rs6821028 4 62293449 [A/C] rs1037671 4 62301359 [A/G] rs1026419 4 62303163 [T/C] rs7661450 4 62303629 [A/G] rs10009335 4 62317170 [T/G] rs335328 4 62344439 [A/G] rs335324 4 62349873 [T/C] rs10029192 4 62380911 [A/G] NM_015236 LPHN3 Silent rs335317 4 62387140 [A/G] NM_015236 LPHN3 Silent rs335305 4 62393760 [T/C] NM_015236 LPHN3 Silent rs6813884 4 62398938 [A/G] NM_015236 LPHN3 Silent rs17090504 4 62410156 [T/G] NM_015236 LPHN3 Silent rs9312078 4 62412292 [T/C] NM_015236 LPHN3 Silent rs2132074 4 62416499 [A/G] NM_015236 LPHN3 Silent rs10011995 4 62418658 [T/C] NM_015236 LPHN3 Silent rs723120 4 62434977 [A/G] NM_015236 LPHN3 Silent exm-rs6856328 4 62437318 [G/C] NM_015236 LPHN3 Silent rs6841033 4 62442507 [A/G] NM_015236 LPHN3 Silent var_4_62453006 4 62453006 [T/G] NM_015236 LPHN3 EXON Nonsense_Y39X exm-rs2172802 4 62453209 [A/G] NM_015236 LPHN3 Silent rs35550109 4 62462234 [T/C] NM_015236 LPHN3 Silent rs10001410 4 62474229 [A/C] NM_015236 LPHN3 Silent rs7666147 4 62478230 [A/C] NM_015236 LPHN3 Silent rs12642037 4 62503837 [T/C] NM_015236 LPHN3 Silent rs12233859 4 62545435 [A/G] NM_015236 LPHN3 Silent rs6843311 4 62568688 [T/G] NM_015236 LPHN3 Silent rs6843246 4 62585617 [A/G] NM_015236 LPHN3 Silent variant.81090 4 62598843 [T/C] NM_015236 LPHN3 EXON Nonsense_R256X exm401648 4 62599227 [A/G] NM_015236 LPHN3 EXON Missense_V384I 1KG_4_62599243 4 62599243 [D/I] NM_015236 LPHN3 EXON rs9312082 4 62599289 [A/G] NM_015236 LPHN3 Silent rs4640696 4 62606930 [T/C] NM_015236 LPHN3 Silent rs12646895 4 62616180 [A/G] NM_015236 LPHN3 Silent rs2343577 4 62626565 [T/G] NM_015236 LPHN3 Silent rs2345049 4 62637158 [A/G] NM_015236 LPHN3 Silent rs1901223 4 62660731 [A/G] NM_015236 LPHN3 Silent rs4493573 4 62665721 [A/G] NM_015236 LPHN3 Silent rs7683391 4 62676117 [A/G] NM_015236 LPHN3 Silent rs2345042 4 62686499 [T/C] NM_015236 LPHN3 Silent rs11734607 4 62693692 [T/C] NM_015236 LPHN3 Silent rs10021694 4 62707653 [T/C] NM_015236 LPHN3 Silent rs6551661 4 62716210 [T/C] NM_015236 LPHN3 Silent rs10446786 4 62726874 [A/G] NM_015236 LPHN3 Silent rs34855831 4 62728124 [T/C] NM_015236 LPHN3 Silent rs6551665 4 62739541 [A/G] NM_015236 LPHN3 Silent rs6846033 4 62739674 [T/C] NM_015236 LPHN3 Silent rs1947275 4 62744545 [T/C] NM_015236 LPHN3 Silent exm401657 4 62758425 [T/C] NM_015236 LPHN3 EXON Missense_T443I exm401660 4 62758491 [A/G] NM_015236 LPHN3 EXON Missense_R465Q exm401663 4 62758583 [A/G] NM_015236 LPHN3 EXON Missense_E496K exm401666 4 62758596 [T/C] NM_015236 LPHN3 EXON Missense_A500V rs11131347 4 62759270 [T/C] NM_015236 LPHN3 Silent exm2269762 4 62759270 [T/C] NM_015236 LPHN3 Silent exm401671 4 62761464 [T/C] NM_015236 LPHN3 EXON Missense_L532P rs1349408 4 62766445 [A/G] NM_015236 LPHN3 Silent rs4860442 4 62773995 [T/G] NM_015236 LPHN3 Silent exm401674 4 62775333 [T/G] NM_015236 LPHN3 EXON Missense_R580I rs1355368 4 62779822 [A/G] NM_015236 LPHN3 Silent exm401682 4 62800624 [A/G] NM_015236 LPHN3 EXON Missense_T659A exm401690 4 62801682 [A/G] NM_015236 LPHN3 EXON Missense_D712N exm401697 4 62812764 [T/C] NM_015236 LPHN3 EXON Missense_T783M rs1510925 4 62830533 [A/G] NM_015236 LPHN3 Silent rs1510923 4 62834741 [T/C] NM_015236 LPHN3 Silent exm401711 4 62845461 [G/C] NM_015236 LPHN3 EXON Missense_L928V exm401714 4 62845490 [A/G] NM_015236 LPHN3 EXON Synonymous_P937P exm401717 4 62849165 [T/C] NM_015236 LPHN3 EXON Missense_F959S exm401718 4 62849203 [A/G] NM_015236 LPHN3 EXON Missense_V972I exm401719 4 62849225 [A/G] NM_015236 LPHN3 EXON Missense_R979H rs4860106 4 62850522 [A/G] NM_015236 LPHN3 Silent rs17292128 4 62851157 [T/C] NM_015236 LPHN3 Silent rs10017760 4 62856659 [A/G] NM_015236 LPHN3 Silent rs954645 4 62859511 [T/C] NM_015236 LPHN3 Silent rs1510921 4 62895592 [T/C] NM_015236 LPHN3 Silent rs11736888 4 62923797 [T/C] NM_015236 LPHN3 Silent exm401742 4 62936092 [A/C] NM_015236 LPHN3 EXON Missense_N1292K exm401755 4 62936601 [T/C] NM_015236 LPHN3 EXON Missense_P1462L rs10032372 4 62944634 [T/G] rs7697748 4 62990100 [A/G] rs7676979 4 63000769 [A/G] rs6857895 4 63012413 [T/C] rs1124974 4 63037324 [T/C] rs7440496 4 63038015 [A/G] rs2193120 4 63042975 [A/G] rs4860459 4 63058607 [T/C] rs17292254 4 63059629 [A/G] rs1563796 4 63067995 [T/C] rs2015977 4 63083363 [A/C] rs6823272 4 63084429 [A/G] rs7694238 4 63096403 [T/G] kgp1378312 4 63097852 [T/G] kgp3000411 4 63097936 [A/G] rs9994927 4 63214913 [A/G] rs7663110 4 63223986 [T/C] rs7661900 4 63224055 [T/G] rs13137382 4 63229194 [A/G] rs10001214 4 63229994 [T/C] rs7692732 4 63239289 [T/C] rs10033123 4 63246560 [A/G] rs11131367 4 63250043 [T/C] rs778959 4 63255019 [A/C] rs988932 4 63257642 [T/G] rs801454 4 63258843 [T/G] rs1590068 4 63293938 [T/G] rs2445034 4 63309015 [T/C] rs778572 4 63309789 [T/C] rs11946748 4 63312810 [A/G] rs2697201 4 63315877 [A/C] rs17239472 4 63319526 [T/C] rs778554 4 63322306 [T/G] rs985591 4 63331949 [T/C] rs13140211 4 63341773 [T/C] rs6843214 4 63354303 [A/G] rs17292275 4 63355299 [A/G] rs10027570 4 63366728 [A/G] rs1000226 4 63370926 [T/C] rs13126803 4 63378266 [T/G] rs6817682 4 63391971 [T/C] rs6848319 4 63397548 [T/G] rs969607 4 63403138 [A/G] rs13116204 4 63409453 [T/G] rs11944965 4 63424089 [T/C] rs1031536 4 63428054 [A/G] exm2269926 4 63448482 [T/C] rs6854419 4 63448853 [A/C] rs4379088 4 63458896 [T/C] rs4348128 4 63467034 [T/C] rs7690075 4 63487723 [A/G] rs11941453 4 63493963 [A/G] rs12500171 4 63509409 [T/C] rs11734638 4 63514942 [A/C] rs3887103 4 63525643 [A/G] rs4280764 4 63539931 [T/C] rs10013579 4 63540378 [T/C] rs11131395 4 63562828 [A/G] rs6815661 4 63579914 [T/C] rs3922569 4 63614842 [T/C] rs12508568 4 63618186 [T/G] rs4286556 4 63628599 [T/G] rs7441398 4 63653135 [T/G] rs6821629 4 63661150 [T/G] rs11131413 4 63667799 [T/C] rs11131415 4 63679630 [A/G] rs11727577 4 63701231 [A/G] rs12233752 4 63704039 [T/C] rs1395745 4 63704307 [A/G] rs12649725 4 63718434 [A/G] exm2265842 4 63722833 [A/G] rs6551725 4 63730296 [A/C] rs17658230 4 63735874 [T/C] rs7665173 4 63739496 [T/C] rs1395738 4 63739803 [A/C] rs17083027 4 63754993 [T/G] rs1507317 4 63763762 [T/G] rs13107261 4 63768826 [A/G] rs4565107 4 63769930 [T/C] rs11932508 4 63785436 [T/C] rs1395728 4 63811369 [A/C] rs10025992 4 63838796 [A/G] rs2660598 4 63842062 [A/G] rs6843828 4 63856049 [A/C] rs1507308 4 63859056 [T/G] rs2683405 4 63867349 [A/C] rs2683408 4 63871886 [T/C] rs9312100 4 63872125 [T/C] rs10029207 4 63878877 [T/C] rs10213271 4 63883185 [A/G] exm2269763 4 63895857 [T/C] rs2346648 4 63895857 [T/C] rs2346649 4 63901724 [A/G] rs7693548 4 63901897 [T/C] rs10033067 4 63945658 [A/C] rs11725964 4 63955218 [T/C] rs4860122 4 63975710 [T/C] rs7691018 4 63988942 [T/C] rs2171748 4 63992411 [A/G] rs12502749 4 64001013 [A/C] rs7679758 4 64040427 [T/G] rs4493574 4 64073599 [A/G] rs13127900 4 64076557 [A/G] rs976921 4 64076807 [T/C] rs996473 4 64099349 [A/C] rs13144816 4 64103715 [A/G] rs2346937 4 64125181 [A/C] rs10050111 4 64138341 [T/C] rs4364292 4 64140731 [A/G] rs9996025 4 64166391 [A/G] rs2346939 4 64171187 [T/C] rs17671382 4 64174876 [T/C] rs10005499 4 64182495 [T/G] rs1982616 4 64184644 [T/C] rs7662456 4 64214915 [T/C] rs12503849 4 64229023 [A/G] rs13353631 4 64253631 [A/G] rs10007651 4 64259569 [A/G] rs12501961 4 64282069 [A/G] rs13105340 4 64295154 [T/C] rs12647475 4 64299915 [T/G] rs1514950 4 64309441 [A/G] rs6551774 4 64313453 [T/C] rs7689785 4 64315104 [T/C] rs1399531 4 64315661 [T/C] exm2264057 4 64322072 [A/C] rs2102701 4 64330224 [T/C] rs13133029 4 64332005 [T/C] rs10021833 4 64333810 [A/G] rs11131461 4 64342824 [T/C] rs9996032 4 64354567 [A/C] rs1399529 4 64359342 [T/C] rs1399530 4 64359382 [A/G] rs11131464 4 64360700 [T/C] rs7663493 4 64442439 [A/G] rs1020711 4 64461794 [A/G] rs12507316 4 64468573 [A/G] rs12648875 4 64474350 [T/C] rs1157023 4 64489926 [T/C] rs7692181 4 64500994 [T/C] rs1531202 4 64514978 [A/C] kgp9917797 4 64515693 [A/G] kgp10425940 4 64518061 [T/C] rs7693102 4 64619384 [T/C] rs13146719 4 64625606 [T/C] rs12715741 4 64693032 [T/G] rs11131484 4 64727794 [T/C] rs1375469 4 64759742 [A/C] rs13116801 4 64769162 [T/C] rs1878564 4 64791788 [A/G] kgp8703379 4 64796710 [A/G] kgp5731722 4 64798041 [T/C] rs2122206 4 64853008 [A/G] rs12647624 4 64888674 [A/C] rs11932534 4 64892027 [T/G] rs2881806 4 64900987 [A/G] rs7660090 4 64904758 [T/G] exm2269764 4 64933220 [T/G] rs1449187 4 64933680 [A/C] rs17697056 4 64948753 [T/G] exm2264094 4 64961101 [A/C] rs1402142 4 64970948 [A/C] rs10002861 4 64976578 [T/C] rs13102737 4 64981595 [A/C] rs9312127 4 65085452 [A/G] rs12649001 4 65085505 [A/G] rs1531864 4 65102656 [A/C] rs2128887 4 65108929 [A/G] rs972537 4 65134786 [A/G] rs1483713 4 65142710 [T/C] variant.81093 4 65147191 [T/C] NM_001010874 TECRL Silent exm401761 4 65147217 [A/G] NM_001010874 TECRL EXON Missense_V298A exm401763 4 65147266 [A/C] NM_001010874 TECRL EXON Missense_C282G exm401770 4 65155428 [T/C] NM_001010874 TECRL EXON Missense_G278R rs11930994 4 65164696 [T/C] NM_001010874 TECRL Silent exm401777 4 65165727 [T/C] NM_001010874 TECRL EXON Missense_N247D rs7656244 4 65170415 [A/C] NM_001010874 TECRL Silent variant.81095 4 65170883 [T/C] NM_001010874 TECRL Silent variant.81096 4 65170884 [A/G] NM_001010874 TECRL EXON Missense_S244P exm401781 4 65170892 [A/G] NM_001010874 TECRL EXON Missense_T241I newrs141462797 4 65170940 [T/C] NM_001010874 TECRL EXON Nonsense_W225X variant.81099 4 65175615 [A/G] NM_001010874 TECRL EXON Nonsense_R196X exm401788 4 65180381 [T/C] NM_001010874 TECRL EXON Missense_R179H exm401790 4 65180463 [T/C] NM_001010874 TECRL EXON Missense_T152A exm2077056 4 65188433 [T/G] NM_001010874 TECRL EXON Missense_L137I rs1384725 4 65215475 [A/G] NM_001010874 TECRL Silent rs17084731 4 65225307 [T/C] NM_001010874 TECRL Silent rs10025479 4 65231389 [A/G] NM_001010874 TECRL Silent rs17084784 4 65258550 [T/C] NM_001010874 TECRL Silent rs13151311 4 65264183 [A/C] NM_001010874 TECRL Silent rs11727042 4 65265753 [T/G] NM_001010874 TECRL Silent exm2077064 4 65274898 [T/C] NM_001010874 TECRL EXON Missense_T58A indel.81103 4 65274932 [I/D] NM_001010874 TECRL EXON exm401816 4 65274937 [A/G] NM_001010874 TECRL EXON Missense_P45S exm401819 4 65275037 [T/A] NM_001010874 TECRL EXON Missense_E11D exm2261742 4 65282211 [T/G] rs1842955 4 65309678 [T/C] rs12501821 4 65309971 [A/G] rs10517889 4 65313497 [T/G] rs2086735 4 65324353 [A/C] rs11725219 4 65343461 [A/G] rs2086731 4 65346967 [T/C] rs6851961 4 65351771 [A/G] rs1425395 4 65384957 [A/G] rs10032135 4 65403406 [T/G] rs17663093 4 65412694 [T/C] rs9918005 4 65423635 [T/C] rs1425377 4 65436643 [A/G] rs1425376 4 65437395 [A/G] rs7688529 4 65439260 [A/G] rs7664375 4 65459781 [A/C] rs10021202 4 65464297 [T/C] rs10212780 4 65475782 [T/C] rs10007849 4 65480701 [T/G] rs1991222 4 65493709 [T/C] rs11943670 4 65501422 [T/G] rs1425390 4 65501761 [A/C] rs4403083 4 65510729 [A/C] rs10028130 4 65517439 [T/C] rs11131559 4 65519108 [A/C] rs6831411 4 65535470 [A/G] exm2269765 4 65549349 [T/C] rs9995377 4 65572162 [A/G] rs6819000 4 65574910 [T/G] rs7685391 4 65576097 [A/G] rs7695636 4 65586360 [A/G] rs12639640 4 65592228 [A/G] rs10026811 4 65608259 [A/C] rs6847583 4 65613269 [A/G] rs1367342 4 65616248 [T/G] rs1074431 4 65620087 [T/C] rs1430519 4 65624721 [T/C] rs1346841 4 65651730 [A/G] rs11731709 4 65654988 [A/G] rs1430512 4 65662699 [T/C] rs1346839 4 65675052 [T/C] rs978067 4 65682693 [A/C] rs7654975 4 65711998 [A/G] exm2265711 4 65712811 [A/G] rs7674285 4 65750033 [T/C] rs10517902 4 65750373 [T/C] rs10008353 4 65776107 [T/G] rs6857709 4 65784245 [A/G] NR_033976 LOC401134 Silent rs1372029 4 65791276 [A/G] NR_033976 LOC401134 Silent rs1595974 4 65798746 [T/C] NR_033976 LOC401134 Silent rs968827 4 65801134 [T/C] NR_033976 LOC401134 Silent rs1372020 4 65817923 [A/C] NR_033976 LOC401134 Silent rs1440923 4 65840580 [A/G] NR_033976 LOC401134 Silent rs13106164 4 65846651 [A/G] NR_033976 LOC401134 Silent rs10155085 4 65863772 [A/C] NR_033976 LOC401134 Silent rs6811034 4 65881161 [A/G] rs9917886 4 65890760 [T/C] rs6819203 4 65897053 [T/G] rs1440931 4 65902264 [A/C] rs13152245 4 65903597 [T/C] rs7693800 4 65906658 [T/C] rs9312133 4 65907274 [A/G] rs7668959 4 65945051 [T/G] rs2083551 4 65957836 [T/G] rs1877116 4 65966308 [T/C] rs682680 4 65996048 [T/C] rs10013406 4 65996512 [T/C] kgp5116249 4 66000593 [T/G] rs371925 4 66058606 [T/C] rs2349420 4 66083947 [A/G] rs10517923 4 66110165 [A/G] rs12504837 4 66117152 [A/G] rs54808 4 66119496 [T/C] rs4860646 4 66147444 [T/C] rs7688176 4 66150055 [A/G] rs1376409 4 66167253 [T/G] exm401826 4 66189846 [A/T] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_M1034L,Missense_M1012L exm401827 4 66189849 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_G1033R,Missense_G1011R rs7356402 4 66191356 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs2122722 4 66195601 [A/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs7349683 4 66197804 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 EXON Synonymous_G965G,Synonymous_G943G exm2241173 4 66197823 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_H959R,Missense_H937R exm401841 4 66197824 [C/G] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_H959D,Missense_H937D variant.81106 4 66201645 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent exm2077168 4 66201684 [T/G] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_S940R,Missense_S918R newrs146343247 4 66201747 [A/G] NM_004439,NM_182472 EPHA5,EPHA5 EXON Nonsense_R919X,Nonsense_R897X rs17086092 4 66202345 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs986208 4 66206492 [A/G] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent newrs138014411 4 66213824 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 EXON Nonsense_W869X,Nonsense_W847X exm401867 4 66217267 [C/G] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_G783A,Missense_G761A rs1451180 4 66219433 [A/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent exm401879 4 66231683 [T/A] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_S673T,Missense_S651T exm401880 4 66231686 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_A672T,Missense_A650T exm2269928 4 66232761 [T/G] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent variant.81109 4 66233075 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_I642V,Missense_I620V rs17086137 4 66238145 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent exm401889 4 66242763 [A/C] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_C603W,Silent rs2034537 4 66244369 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs4860656 4 66254728 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs10033393 4 66260257 [A/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent exm401896 4 66270156 [A/C] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_A576S,Missense_A576S rs2198103 4 66272179 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs13120093 4 66272411 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs17086199 4 66273350 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs17086207 4 66277278 [A/G] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs12509018 4 66278087 [A/G] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent exm401907 4 66286206 [A/G] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_R494C,Missense_R494C variant.81110 4 66286220 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 EXON Nonsense_W489X,Nonsense_W489X rs6831652 4 66300425 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs4860665 4 66322437 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs9991256 4 66327854 [A/G] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs4425430 4 66340967 [A/G] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs4637457 4 66343670 [T/G] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs11936348 4 66344954 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs4516775 4 66353220 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent exm2077204 4 66356269 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_G410S,Missense_G410S rs4337775 4 66359577 [A/G] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs6815080 4 66362487 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent exm2256681 4 66366103 [A/G] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs7654891 4 66374633 [A/G] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs4541571 4 66378192 [A/G] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs13109328 4 66378789 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs4132313 4 66381581 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs7679950 4 66383283 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs11947260 4 66394160 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs10032173 4 66397114 [A/G] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs10016747 4 66398855 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs6551933 4 66403567 [A/G] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs4518304 4 66421666 [A/G] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs11931601 4 66431909 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs12506403 4 66453438 [A/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs13144830 4 66454374 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs6855605 4 66456092 [A/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent exm401934 4 66467418 [A/C] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_V284G,Missense_V284G exm401938 4 66467556 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_R238Q,Missense_R238Q exm2241176 4 66467566 [A/C] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_S235A,Missense_S235A exm401941 4 66467644 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_G209R,Missense_G209R rs11947738 4 66470077 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs4404602 4 66470813 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs4320186 4 66483593 [A/G] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs6831565 4 66488131 [A/G] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent rs4505878 4 66504490 [T/G] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent exm401955 4 66509085 [T/G] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_N81T,Missense_N81T rs4565127 4 66526101 [T/C] NM_004439,NM_182472 EPHA5,EPHA5 Silent,Silent exm401961 4 66535316 [A/C] NM_004439,NM_182472 EPHA5,EPHA5 EXON Missense_A49S,Missense_A49S rs4371664 4 66550619 [T/C] NR_034138 LOC100144602 Silent rs6843972 4 66550952 [A/G] NR_034138 LOC100144602 Silent rs11131613 4 66553425 [A/G] NR_034138 LOC100144602 Silent rs4498177 4 66554209 [T/C] NR_034138 LOC100144602 Silent rs13127866 4 66567179 [T/C] rs6851092 4 66568768 [T/G] rs4860189 4 66576310 [A/G] rs4860701 4 66583502 [T/C] rs4629506 4 66583906 [T/C] rs11728136 4 66597539 [T/C] rs4241669 4 66610307 [T/C] rs4588513 4 66611856 [T/C] rs10009221 4 66613120 [A/G] rs6813706 4 66615653 [T/C] rs2882317 4 66645823 [A/C] rs6845738 4 66655689 [A/C] rs1074532 4 66657060 [A/G] rs11131618 4 66658538 [T/G] rs17086389 4 66663257 [T/C] rs4484355 4 66681736 [T/C] rs11735605 4 66683829 [T/C] rs2882314 4 66688425 [T/C] rs17082137 4 66697780 [T/C] rs2350064 4 66709201 [T/C] rs10866165 4 66712131 [T/C] rs17755896 4 66712685 [T/C] rs4146476 4 66716573 [A/C] rs10517944 4 66729586 [A/G] rs17086487 4 66734932 [A/G] rs6836494 4 66738581 [A/G] rs2350343 4 66745310 [A/G] rs6551968 4 66750577 [A/G] rs17086506 4 66751139 [T/C] rs12513262 4 66771088 [T/C] exm2269766 4 66773365 [T/C] rs7660970 4 66777240 [T/G] rs10023064 4 66783283 [A/G] rs17086628 4 66791167 [A/G] rs6815570 4 66797440 [A/G] rs11131630 4 66803361 [A/G] rs10517951 4 66811323 [A/G] rs11945164 4 66812771 [A/G] rs17086655 4 66826473 [A/C] kgp11790190 4 66827376 [T/G] kgp185462 4 66827724 [A/G] rs7683217 4 66881057 [T/C] rs6850299 4 66965155 [T/G] rs13149202 4 66984331 [A/G] rs11942020 4 67005499 [T/G] rs1461827 4 67009474 [A/G] rs6551997 4 67012685 [A/G] rs960865 4 67022718 [T/G] rs13102033 4 67055090 [A/G] rs1993644 4 67069599 [A/C] rs2350804 4 67075938 [T/C] rs1511282 4 67097186 [A/G] rs6834031 4 67104099 [A/C] rs434623 4 67126645 [A/G] rs1397755 4 67140834 [A/G] rs12642661 4 67169493 [T/C] rs17087006 4 67188285 [T/G] rs17087008 4 67188696 [A/G] rs10034030 4 67218350 [A/G] rs13127224 4 67227162 [A/C] rs1511279 4 67234581 [A/G] rs17087075 4 67234740 [A/G] exm2269929 4 67236293 [T/G] rs6552006 4 67253757 [T/C] rs1511277 4 67260326 [T/G] rs6823164 4 67262225 [T/C] rs1877515 4 67301889 [T/C] rs1996076 4 67311736 [A/G] rs1996074 4 67314393 [A/G] rs1512965 4 67334039 [T/C] rs11731608 4 67345098 [T/C] rs7669583 4 67345899 [A/G] rs1398547 4 67358778 [A/G] exm2265713 4 67358897 [A/G] rs1512945 4 67362872 [A/G] rs8180319 4 67389529 [T/C] rs10517992 4 67399515 [A/C] rs1510742 4 67432445 [T/C] rs1510743 4 67436220 [T/C] rs10013019 4 67439729 [T/C] rs13435376 4 67451127 [A/C] rs17087338 4 67451328 [T/G] rs1397470 4 67459961 [A/G] rs11934386 4 67470362 [T/C] rs1397453 4 67501423 [A/G] rs2203017 4 67507665 [A/G] rs4624710 4 67523957 [T/C] rs7695566 4 67525255 [T/C] rs4602541 4 67529651 [T/C] rs11733560 4 67572774 [T/C] rs10866173 4 67606895 [T/C] rs7655881 4 67607007 [T/C] rs6834814 4 67641168 [A/G] rs6842084 4 67642371 [A/C] rs1545429 4 67644546 [A/G] rs1450036 4 67657239 [T/C] rs7697495 4 67661122 [T/C] rs1495103 4 67673566 [T/C] rs1353320 4 67677853 [A/G] rs1450024 4 67716110 [A/G] exm2269930 4 67716733 [T/C] rs1155865 4 67733857 [A/G] exm-rs1155865 4 67733857 [A/G] rs6818708 4 67762959 [T/C] rs1481245 4 67763820 [A/G] rs1585959 4 67774097 [T/C] rs923994 4 67802992 [A/G] rs11947612 4 67807854 [A/G] rs1390067 4 67808949 [T/C] rs2035366 4 67820174 [T/G] exm2269767 4 67831581 [T/G] rs12500685 4 67843376 [T/C] rs1435423 4 67884593 [A/G] rs12506221 4 67899235 [T/G] rs787361 4 67904595 [T/C] rs12186186 4 67925197 [A/C] rs1425664 4 67939089 [A/G] rs1425653 4 67954517 [T/C] rs10018066 4 67961296 [A/C] rs17088003 4 67972601 [A/G] rs10866177 4 67994618 [T/C] rs11131679 4 68007509 [A/G] rs933830 4 68019294 [A/C] rs730934 4 68024153 [T/C] rs1346075 4 68028922 [T/G] rs7669686 4 68038559 [A/G] rs6815091 4 68061633 [A/G] exm-rs10518025 4 68064440 [T/C] rs13151209 4 68071781 [A/G] rs6814470 4 68075795 [T/C] rs6819869 4 68088235 [A/G] rs4860238 4 68093400 [A/G] rs4639131 4 68095870 [T/C] rs1866784 4 68101830 [T/C] rs17766472 4 68102182 [T/C] rs4133270 4 68104490 [T/C] rs10005602 4 68113850 [T/G] rs1158408 4 68116539 [A/G] rs1440556 4 68123616 [T/G] rs1371864 4 68127826 [A/C] rs1946918 4 68154530 [T/C] rs11724259 4 68159587 [T/C] rs1440559 4 68174701 [A/G] rs9985687 4 68176106 [T/G] rs12504640 4 68183082 [T/C] rs1899130 4 68186030 [T/C] rs1371863 4 68192816 [A/G] rs746877 4 68198578 [A/C] rs1946920 4 68207449 [A/G] rs1497431 4 68215003 [T/G] exm2269768 4 68219296 [T/C] rs356310 4 68222094 [T/C] rs10518036 4 68222294 [A/G] rs10008670 4 68237962 [T/C] rs6824881 4 68241071 [T/G] rs7669658 4 68250856 [T/C] rs13103397 4 68252674 [A/G] rs1497427 4 68262262 [T/C] rs3932174 4 68263831 [T/G] rs17428139 4 68267437 [T/C] kgp5700535 4 68269117 [T/C] rs3935662 4 68269400 [T/C] exm401975 4 68340623 [A/G] NM_001812 CENPC1 EXON Missense_S915L indel.81111 4 68355751 [D/I] NM_001812 CENPC1 EXON exm401983 4 68358623 [T/C] NM_001812 CENPC1 EXON Missense_N795D exm401987 4 68359617 [G/C] NM_001812 CENPC1 EXON Missense_Q759E exm401999 4 68370977 [T/A] NM_001812 CENPC1 EXON Missense_Y693N exm402000 4 68372537 [T/C] NM_001812 CENPC1 EXON Missense_G674R exm402006 4 68374538 [T/C] NM_001812 CENPC1 EXON Missense_C633Y rs355466 4 68377472 [A/G] NM_001812 CENPC1 Silent exm402018 4 68378206 [A/G] NM_001812 CENPC1 EXON Missense_V509A exm402023 4 68378287 [A/C] NM_001812 CENPC1 EXON Missense_G482V exm2277281 4 68379865 [T/A] NM_001812 CENPC1 EXON Missense_N457K exm402033 4 68380070 [T/C] NM_001812 CENPC1 EXON Missense_G389D rs173317 4 68381367 [T/C] NM_001812 CENPC1 Silent exm402043 4 68383937 [T/C] NM_001812 CENPC1 EXON Missense_R256Q exm402058 4 68385211 [T/C] NM_001812 CENPC1 EXON Missense_H114R exm402064 4 68405569 [G/C] NM_001812 CENPC1 EXON Missense_P74A exm2241182 4 68405587 [T/C] NM_001812 CENPC1 EXON Missense_D68N exm402068 4 68405599 [A/G] NM_001812 CENPC1 EXON Missense_R64C exm402073 4 68406742 [T/C] NM_001812 CENPC1 EXON Missense_G31D variant.81115 4 68409914 [A/C] NM_001812 CENPC1 Silent exm402077 4 68411056 [G/C] NM_001812 CENPC1 EXON Synonymous_L6L rs13119483 4 68415286 [T/C] rs7700004 4 68419485 [T/C] exm402082 4 68424532 [A/T] NM_012108 STAP1 EXON Missense_M2K exm402083 4 68424562 [A/G] NM_012108 STAP1 EXON Missense_R12H rs7681780 4 68428733 [T/G] NM_012108 STAP1 Silent rs13111555 4 68436883 [T/C] NM_012108 STAP1 Silent rs17088473 4 68443308 [T/G] NM_012108 STAP1 Silent newrs147302126 4 68447022 [A/G] NM_012108 STAP1 Silent rs12507679 4 68447040 [T/C] NM_012108 STAP1 EXON Synonymous_N127N exm402112 4 68447185 [T/C] NM_012108 STAP1 EXON Missense_P176S exm-rs2242330 4 68447249 [A/G] NM_012108 STAP1 Silent rs2242330 4 68447249 [A/G] NM_012108 STAP1 Silent exm402116 4 68449348 [G/C] NM_012108 STAP1 EXON Missense_S196C var_4_68449354 4 68449355 [I/D] NM_012108 STAP1 EXON exm402117 4 68449380 [A/G] NM_012108 STAP1 EXON Missense_D207N rs17632290 4 68453189 [T/C] NM_012108 STAP1 Silent variant.81120 4 68456623 [A/C] NM_012108 STAP1 EXON Nonsense_Y227X rs6830199 4 68460255 [T/C] NM_012108 STAP1 Silent rs4860262 4 68480525 [T/C] rs1048447 4 68483472 [A/G] NM_018227 UBA6 EXON Silent exm402130 4 68484738 [A/G] NM_018227 UBA6 EXON Missense_Y1046H exm402131 4 68484770 [T/C] NM_018227 UBA6 EXON Missense_D1035G exm402134 4 68484837 [A/C] NM_018227 UBA6 EXON Missense_V1013L exm2077389 4 68488583 [T/C] NM_018227 UBA6 EXON Missense_V997I exm402149 4 68490785 [T/C] NM_018227 UBA6 EXON Missense_R880H exm402157 4 68496234 [T/G] NM_018227 UBA6 EXON Missense_N760H exm402162 4 68497589 [T/C] NM_018227 UBA6 EXON Missense_R727Q exm402168 4 68499169 [A/G] NM_018227 UBA6 EXON Missense_L679S exm402170 4 68499181 [A/C] NM_018227 UBA6 EXON Missense_S675I exm402171 4 68499985 [T/C] NM_018227 UBA6 EXON Missense_Y663C exm402185 4 68504780 [T/A] NM_018227 UBA6 EXON Missense_D539E newrs140068938 4 68512442 [A/C] NM_018227 UBA6 EXON Missense_R439L indel.81123 4 68529639 [I/D] NM_018227 UBA6 EXON indel.81124 4 68530954 [D/I] NM_018227 UBA6 EXON indel.81125 4 68530991 [I/D] NM_018227 UBA6 EXON exm402217 4 68534392 [T/C] NM_018227 UBA6 EXON Missense_A224T exm402222 4 68539437 [T/C] NM_018227 UBA6 EXON Missense_R175H exm2256689 4 68547847 [A/T] NM_018227 UBA6 EXON Synonymous_G73G exm402235 4 68547876 [T/C] NM_018227 UBA6 EXON Missense_V64I rs17572160 4 68562365 [A/G] NM_018227 UBA6 EXON Synonymous_Y44Y exm402241 4 68562401 [T/C] NM_018227 UBA6 EXON Missense_M32I exm402248 4 68566823 [A/C] NM_018227 UBA6 EXON Missense_E5D rs2630489 4 68591252 [A/G] newrs28933074 4 68606334 [T/C] NM_001012763,NM_000406 GNRHR,GNRHR EXON Synonymous_L241L,Missense_Y284C 1KG_4_68606363 4 68606363 [D/I] NM_001012763,NM_000406 GNRHR,GNRHR EXON newrs148499544 4 68606388 [A/C] NM_001012763,NM_000406 GNRHR,GNRHR EXON Synonymous_S223S,Missense_L266R exm402259 4 68606400 [T/C] NM_001012763,NM_000406 GNRHR,GNRHR EXON Synonymous_T219T,Missense_R262Q exm402261 4 68610286 [T/C] NM_001012763,NM_000406 GNRHR,GNRHR EXON Missense_R205Q,Missense_E248K variant.81134 4 68610287 [A/G] NM_001012763,NM_000406 GNRHR,GNRHR EXON Nonsense_R205X,Synonymous_H247H exm402263 4 68610309 [T/C] NM_001012763,NM_000406 GNRHR,GNRHR EXON Synonymous_T197T,Missense_R240Q exm2269931 4 68618451 [T/C] NM_001012763,NM_000406 GNRHR,GNRHR Silent,Silent newrs74452732 4 68619543 [T/C] NM_001012763,NM_000406 GNRHR,GNRHR EXON Missense_A171T,Missense_A171T exm402279 4 68619618 [A/G] NM_001012763,NM_000406 GNRHR,GNRHR EXON Missense_P146S,Missense_P146S exm402281 4 68619638 [T/C] NM_001012763,NM_000406 GNRHR,GNRHR EXON Missense_R139H,Missense_R139H exm402285 4 68619737 [T/C] NM_001012763,NM_000406 GNRHR,GNRHR EXON Missense_Q106R,Missense_Q106R variant.81140 4 68619768 [A/G] NM_001012763,NM_000406 GNRHR,GNRHR EXON Missense_P96S,Missense_P96S variant.81141 4 68619942 [A/G] NM_001012763,NM_000406 GNRHR,GNRHR EXON Nonsense_R38X,Nonsense_R38X variant.81142 4 68619960 [T/C] NM_001012763,NM_000406 GNRHR,GNRHR EXON Missense_T32A,Missense_T32A exm2275745 4 68619981 [T/G] NM_001012763,NM_000406 GNRHR,GNRHR EXON Missense_Q25K,Missense_Q25K newrs142842994 4 68620023 [T/G] NM_001012763,NM_000406 GNRHR,GNRHR EXON Missense_Q11K,Missense_Q11K rs6552113 4 68620957 [T/C] NM_001012763,NM_000406 GNRHR,GNRHR EXON Silent,Silent rs13102739 4 68631416 [T/C] rs1484188 4 68639112 [A/G] rs6552116 4 68672416 [A/G] rs4504308 4 68673583 [A/G] rs6552123 4 68686507 [A/G] exm402311 4 68691516 [T/A] NM_004262 TMPRSS11D EXON Nonsense_Y343X exm402312 4 68691527 [A/G] NM_004262 TMPRSS11D EXON Missense_P340S rs13142201 4 68697199 [T/C] NM_004262 TMPRSS11D Silent exm402324 4 68699000 [T/C] NM_004262 TMPRSS11D EXON Missense_R205Q exm402338 4 68704012 [A/G] NM_004262 TMPRSS11D EXON Missense_M118T exm402340 4 68704036 [T/C] NM_004262 TMPRSS11D EXON Missense_S110N rs10022223 4 68706863 [A/G] NM_004262 TMPRSS11D Silent rs1872581 4 68718486 [T/C] NM_004262 TMPRSS11D Silent rs1348079 4 68718552 [T/C] NM_004262 TMPRSS11D Silent newrs144036048 4 68725392 [T/C] NM_004262 TMPRSS11D EXON Missense_A5T exm402354 4 68725392 [T/C] NM_004262 TMPRSS11D EXON Missense_A5T rs11131729 4 68727562 [A/G] NM_004262 TMPRSS11D Silent rs960994 4 68750409 [A/G] rs959636 4 68763794 [A/G] rs12651048 4 68765277 [A/G] rs1440740 4 68775707 [A/G] variant.81147 4 68777092 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Nonsense_R412X,Nonsense_R409X var_4_68777150 4 68777150 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Nonsense_W392X,Nonsense_W389X exm402365 4 68777174 [A/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_W384C,Missense_W381C exm402372 4 68780338 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_G358R,Missense_G355R exm2265714 4 68780399 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Synonymous_D337D,Synonymous_D334D exm402377 4 68780407 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_I335V,Missense_I332V exm402378 4 68780409 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_I334T,Missense_I331T exm402379 4 68780427 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_R328Q,Missense_R325Q variant.81150 4 68780428 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Nonsense_R328X,Nonsense_R325X exm402386 4 68784750 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_A301V,Missense_A298V exm402387 4 68784774 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_Q293R,Missense_Q290R variant.81151 4 68784775 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Nonsense_Q293X,Nonsense_Q290X exm402388 4 68784777 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_R292H,Missense_R289H exm402391 4 68784788 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Synonymous_S288S,Synonymous_S285S exm2256691 4 68784788 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Synonymous_S288S,Synonymous_S285S exm402392 4 68784800 [T/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_R284S,Missense_R281S exm402402 4 68784885 [A/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_R256I,Missense_R253I exm2077510 4 68788616 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Synonymous_N186N,Synonymous_N183N variant.81153 4 68788633 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Nonsense_R181X,Nonsense_R178X rs353158 4 68791400 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A Silent,Silent indel.81154 4 68795731 [I/D] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON newrs142955442 4 68797710 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A Silent,Silent exm402419 4 68797711 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_T110I,Missense_T107I newrs151094571 4 68797711 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_T110I,Missense_T107I rs6849403 4 68806909 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A Silent,Silent exm402424 4 68810256 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_R78Q,Missense_R78Q variant.81157 4 68810257 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Nonsense_R78X,Nonsense_R78X exm402428 4 68810346 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_K48R,Missense_K48R exm402431 4 68812237 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_V22I,Missense_V22I rs11930532 4 68812283 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Synonymous_V6V,Synonymous_V6V variant.81158 4 68812291 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A Silent,Silent rs1561385 4 68821282 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A Silent,Silent exm402433 4 68829108 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_M2V,Missense_M2V exm402434 4 68829109 [T/C] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Missense_M1I,Missense_M1I rs6552134 4 68829207 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Silent,Silent rs11947613 4 68829223 [A/G] NM_182606,NM_001114387 TMPRSS11A,TMPRSS11A EXON Silent,Silent rs17088850 4 68829603 [A/G] rs6826271 4 68874618 [A/G] rs7661514 4 68882510 [T/G] rs2164937 4 68911041 [T/C] exm402444 4 68919650 [T/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_I432L,Silent exm402445 4 68919658 [T/C] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_R429Q,Silent exm2077519 4 68919754 [T/C] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_N397S,Silent exm402450 4 68925075 [T/C] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_G376E,Silent exm402451 4 68925094 [A/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_P370S,Silent var_4_68928324 4 68928324 [T/G] NM_207407,NR_046116,NR_027094 TMPRSS11F,LOC550113,SYT14L EXON Silent,Silent,Silent rs3819257 4 68928537 [A/G] NM_207407,NR_046116,NR_027094 TMPRSS11F,LOC550113,SYT14L EXON Silent,Silent,Silent exm402487 4 68930453 [A/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_P322L,Silent exm402488 4 68930465 [A/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_S318F,Silent exm402491 4 68930510 [A/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_V303A,Silent exm402497 4 68930606 [A/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_A271V,Silent rs1898644 4 68933046 [A/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 Silent,Silent exm402505 4 68934462 [T/C] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_R210K,Silent exm402506 4 68934486 [T/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_S202Y,Silent variant.81160 4 68935685 [A/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 Silent,Silent variant.81161 4 68935687 [A/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_R185C,Silent newrs148214799 4 68938040 [T/C] NM_207407,NR_046116 TMPRSS11F,LOC550113 Silent,Silent exm402515 4 68938041 [A/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_P172S,Silent exm402516 4 68938049 [T/C] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_R169K,Silent variant.81164 4 68938161 [A/G] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Nonsense_R132X,Silent exm402520 4 68938185 [T/C] NM_207407,NR_046116 TMPRSS11F,LOC550113 EXON Missense_D124N,Silent rs1370830 4 68940208 [A/G] NM_207407 TMPRSS11F Silent rs1370834 4 68956040 [A/G] NM_207407 TMPRSS11F Silent rs7665380 4 68958290 [T/C] NM_207407 TMPRSS11F Silent 1KG_4_68964611 4 68964611 [I/D] NM_207407 TMPRSS11F EXON exm402528 4 68964683 [A/G] NM_207407 TMPRSS11F EXON Missense_R29W variant.81166 4 68964693 [T/C] NM_207407 TMPRSS11F EXON Nonsense_W25X exm402530 4 68964724 [T/C] NM_207407 TMPRSS11F EXON Missense_R15Q exm402533 4 68964752 [T/C] NM_207407 TMPRSS11F EXON Missense_V6I exm402537 4 68995528 [A/G] NM_207407 TMPRSS11F EXON Missense_A4V rs10030708 4 68995529 [T/C] NM_207407 TMPRSS11F EXON Missense_A4T exm402538 4 68995529 [T/C] NM_207407 TMPRSS11F EXON Missense_A4T rs6819568 4 69013001 [T/C] exm402548 4 69078113 [T/C] NR_015446,NM_001129907 FTLP10,TMPRSS11BNL EXON Silent,Missense_T31A exm402549 4 69078151 [A/G] NR_015446,NM_001129907 FTLP10,TMPRSS11BNL EXON Silent,Missense_A18V rs10008636 4 69083563 [T/C] NM_001129907 TMPRSS11BNL Silent rs7434495 4 69087267 [A/G] rs4860919 4 69091168 [T/C] variant.81168 4 69093631 [A/C] NM_182502 TMPRSS11B EXON Missense_X417G indel.81169 4 69093725 [I/D] NM_182502 TMPRSS11B EXON exm402556 4 69093763 [A/G] NM_182502 TMPRSS11B EXON Missense_P373S exm402558 4 69093792 [T/C] NM_182502 TMPRSS11B Silent exm402559 4 69094459 [A/C] NM_182502 TMPRSS11B Silent exm402563 4 69094507 [T/A] NM_182502 TMPRSS11B EXON Missense_T348S exm402566 4 69094575 [T/G] NM_182502 TMPRSS11B EXON Missense_D325A exm402568 4 69094981 [T/C] NM_182502 TMPRSS11B EXON Missense_M314V exm402570 4 69095002 [T/C] NM_182502 TMPRSS11B EXON Missense_T307A exm402574 4 69095061 [T/C] NM_182502 TMPRSS11B EXON Missense_R287H exm402575 4 69095062 [A/G] NM_182502 TMPRSS11B EXON Missense_R287C exm402577 4 69095086 [A/C] NM_182502 TMPRSS11B EXON Nonsense_E279X exm402581 4 69095169 [T/C] NM_182502 TMPRSS11B EXON Missense_R251Q exm402582 4 69095170 [A/G] NM_182502 TMPRSS11B EXON Missense_R251W exm402583 4 69095197 [T/C] NM_182502 TMPRSS11B EXON Missense_I242V exm402591 4 69097021 [A/G] NM_182502 TMPRSS11B EXON Missense_W196R variant.81175 4 69097099 [T/C] NM_182502 TMPRSS11B Silent rs6552175 4 69098006 [T/C] NM_182502 TMPRSS11B Silent exm402601 4 69098135 [A/C] NM_182502 TMPRSS11B Silent exm402603 4 69100196 [A/G] NM_182502 TMPRSS11B EXON Missense_S152P exm402605 4 69100223 [T/C] NM_182502 TMPRSS11B EXON Missense_M143V variant.81181 4 69101935 [T/G] NM_182502 TMPRSS11B EXON Nonsense_Y58X rs6840820 4 69126345 [T/C] rs7670560 4 69138643 [A/G] exm2256692 4 69148628 [T/G] rs7678448 4 69151046 [T/C] rs7659406 4 69155649 [T/C] rs1730875 4 69174057 [T/C] exm402698 4 69203080 [T/C] NM_133370,NM_001031732 YTHDC1,YTHDC1 EXON Missense_H183R,Missense_H183R exm402704 4 69203342 [T/C] NM_133370,NM_001031732 YTHDC1,YTHDC1 EXON Missense_R136Q,Missense_R136Q exm402708 4 69203397 [A/C] NM_133370,NM_001031732 YTHDC1,YTHDC1 EXON Missense_S118A,Missense_S118A exm402712 4 69203426 [T/C] NM_133370,NM_001031732 YTHDC1,YTHDC1 EXON Missense_R108H,Missense_R108H rs7666993 4 69215034 [A/G] NM_133370,NM_001031732 YTHDC1,YTHDC1 Silent,Silent rs11932381 4 69220383 [T/C] rs34527218 4 69244539 [T/G] rs35303534 4 69250882 [T/C] rs4860296 4 69283448 [T/C] exm402741 4 69337325 [G/C] NM_014058 TMPRSS11E EXON Missense_H158Q rs2708699 4 69341037 [T/C] NM_014058 TMPRSS11E Silent exm402753 4 69342021 [A/G] NM_014058 TMPRSS11E EXON Missense_R191K newrs147196017 4 69342156 [T/C] NM_014058 TMPRSS11E EXON Missense_T236I exm402757 4 69342156 [T/C] NM_014058 TMPRSS11E EXON Missense_T236I exm402758 4 69342157 [G/C] NM_014058 TMPRSS11E Silent exm402763 4 69343287 [A/G] NM_014058 TMPRSS11E EXON Missense_Y303C rs2708697 4 69349034 [T/C] NM_014058 TMPRSS11E Silent rs34253002 4 69353863 [A/G] NM_014058 TMPRSS11E Silent exm402776 4 69362409 [T/C] NM_014058 TMPRSS11E EXON Missense_Y387H exm402787 4 69403544 [T/C] NM_001077 UGT2B17 EXON Nonsense_W464X exm402835 4 69433763 [A/T] NM_001077 UGT2B17 EXON Missense_D147V kgp9016224 4 69434217 [A/G] NM_001077 UGT2B17 EXON Silent kgp10720518 4 69492319 [A/G] rs36069550 4 69500664 [T/C] kgp20624069 4 69512377 [T/C] NM_001076 UGT2B15 EXON Silent rs4148271 4 69512637 [A/T] NM_001076 UGT2B15 EXON Silent rs3100 4 69512654 [A/G] NM_001076 UGT2B15 EXON Silent newrs141755404 4 69513037 [A/G] NM_001076 UGT2B15 EXON Nonsense_R460X indel.81193 4 69535750 [D/I] NM_001076 UGT2B15 EXON kgp20730231 4 69535828 [A/G] NM_001076 UGT2B15 EXON Missense_L170P kgp575508 4 69536084 [A/C] NM_001076 UGT2B15 EXON Missense_Y85D kgp29060528 4 69536163 [A/C] NM_001076 UGT2B15 EXON Synonymous_S58S rs9994887 4 69537475 [A/G] rs34778440 4 69575707 [T/C] rs293431 4 69590669 [A/G] exm2269770 4 69591612 [T/C] rs293429 4 69591612 [T/C] rs293428 4 69591782 [A/G] rs376360 4 69595144 [A/C] rs293408 4 69601124 [T/C] rs403552 4 69613030 [T/C] rs1119049 4 69628948 [T/C] rs11726899 4 69646009 [T/C] rs12644440 4 69679570 [A/C] kgp21193627 4 69681746 [A/G] NM_001075,NM_001144767 UGT2B10,UGT2B10 EXON Synonymous_L3L,Synonymous_L3L rs844342 4 69684121 [T/G] NM_001075,NM_001144767 UGT2B10,UGT2B10 Silent,Silent rs835317 4 69686221 [T/G] NM_001075,NM_001144767 UGT2B10,UGT2B10 Silent,Silent exm403006 4 69687987 [A/C] NM_001075,NM_001144767 UGT2B10,UGT2B10 Silent,Silent exm403009 4 69688011 [A/G] NM_001075,NM_001144767 UGT2B10,UGT2B10 EXON Missense_S297N,Missense_S213N exm403025 4 69692209 [T/C] NM_001075,NM_001144767 UGT2B10,UGT2B10 EXON Missense_L361F,Missense_L277F exm2077721 4 69693267 [A/G] NM_001075,NM_001144767 UGT2B10,UGT2B10 Silent,Silent exm403042 4 69696430 [T/C] NM_001075,NM_001144767 UGT2B10,UGT2B10 EXON Missense_H474Y,Missense_H390Y indel.81195 4 69696540 [I/D] NM_001075,NM_001144767 UGT2B10,UGT2B10 EXON kgp21241543 4 69696568 [A/G] NM_001075,NM_001144767 UGT2B10,UGT2B10 EXON Missense_R520G,Missense_R436G kgp21179937 4 69696708 [A/C] NM_001075,NM_001144767 UGT2B10,UGT2B10 EXON Silent,Silent kgp20992588 4 69696752 [A/G] NM_001075,NM_001144767 UGT2B10,UGT2B10 EXON Silent,Silent kgp20999210 4 69696988 [A/T] NM_001075,NM_001144767 UGT2B10,UGT2B10 EXON Silent,Silent kgp20773344 4 69697128 [T/C] NM_001075,NM_001144767 UGT2B10,UGT2B10 EXON Silent,Silent kgp21320124 4 69697559 [A/T] NM_001075,NM_001144767 UGT2B10,UGT2B10 EXON Silent,Silent rs1379809 4 69703527 [A/G] rs6843220 4 69706273 [T/C] rs9996074 4 69708443 [T/G] rs1841043 4 69708718 [A/G] kgp7533246 4 69712488 [T/C] kgp5459863 4 69715945 [T/C] rs12648504 4 69787683 [T/C] rs4412056 4 69791979 [A/G] variant.81199 4 69795746 [A/G] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Nonsense_R457X,Silent exm403074 4 69796263 [T/C] NM_024743,NR_024010 UGT2A3,UGT2A3 Silent,Silent variant.81201 4 69796264 [A/G] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Missense_S435F,Silent exm403078 4 69796319 [T/A] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Missense_T417S,Silent exm403087 4 69796468 [T/C] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Missense_K367R,Silent exm403090 4 69796909 [A/G] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Missense_R350W,Silent indel.81202 4 69796934 [I/D] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON newrs139311215 4 69811022 [A/G] NM_024743,NR_024010 UGT2A3,UGT2A3 Silent,Silent variant.81204 4 69811024 [T/C] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Synonymous_K288K,Silent indel.81205 4 69811072 [I/D] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON exm403106 4 69811110 [A/C] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Missense_W260G,Silent exm403107 4 69811118 [T/C] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Missense_R257Q,Silent newrs62641704 4 69811119 [A/G] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Nonsense_R257X,Silent indel.81208 4 69816981 [I/D] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON exm2241207 4 69817121 [T/C] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Missense_T120A,Silent variant.81209 4 69817167 [T/C] NM_024743,NR_024010 UGT2A3,UGT2A3 EXON Nonsense_W104X,Silent rs2125306 4 69819484 [T/C] rs1824264 4 69822928 [T/C] rs10027817 4 69829222 [A/G] exm2265843 4 69829222 [A/G] rs3966085 4 69830542 [A/G] rs3886642 4 69833007 [T/C] rs6818594 4 69850452 [T/C] rs4694490 4 69859702 [T/C] rs1841050 4 69862775 [T/C] kgp20880543 4 69870331 [T/C] NM_001075,NM_001144767 UGT2B10,UGT2B10 EXON Silent,Silent exm403154 4 69874575 [A/G] NM_001075,NM_001144767 UGT2B10,UGT2B10 EXON Missense_H426Y,Missense_H342Y rs4576082 4 69883503 [A/G] NM_001075,NM_001144767 UGT2B10,UGT2B10 Silent,Silent exm403183 4 69885807 [T/G] NM_001075,NM_001144767 UGT2B10,UGT2B10 EXON Missense_K88T,Missense_K88T rs4296738 4 69893704 [A/G] rs4235108 4 69893854 [A/G] rs6833862 4 69923096 [T/C] rs7662632 4 69927974 [T/C] rs9991142 4 69932587 [T/C] kgp20713486 4 69962237 [A/G] NM_001074 UGT2B7 EXON Silent exm403192 4 69962375 [T/C] NM_001074 UGT2B7 EXON Missense_L46P exm403199 4 69962449 [T/G] NM_001074 UGT2B7 EXON Missense_A71S exm403204 4 69962559 [T/A] NM_001074 UGT2B7 EXON Missense_L107F kgp29467967 4 69962559 [T/A] NM_001074 UGT2B7 EXON Missense_L107F kgp2021290 4 69962610 [A/G] NM_001074 UGT2B7 EXON Synonymous_R124R indel.81210 4 69962661 [D/I] NM_001074 UGT2B7 EXON exm403211 4 69962774 [T/C] NM_001074 UGT2B7 EXON Missense_T179I exm403213 4 69962818 [A/G] NM_001074 UGT2B7 EXON Missense_V194I rs4293848 4 69965502 [T/C] NM_001074 UGT2B7 Silent rs34620993 4 69968550 [T/C] NM_001074 UGT2B7 EXON Missense_S299F rs7439152 4 69969006 [T/G] NM_001074 UGT2B7 Silent rs7435335 4 69971335 [A/G] NM_001074 UGT2B7 Silent exm403240 4 69972925 [A/T] NM_001074 UGT2B7 EXON Missense_D345E exm403244 4 69973832 [A/T] NM_001074 UGT2B7 EXON Missense_T368S kgp21027906 4 69973867 [A/C] NM_001074 UGT2B7 EXON Synonymous_G379G variant.81214 4 69974041 [A/G] NM_001074 UGT2B7 Silent rs6600897 4 69987249 [A/C] rs11249529 4 69997633 [A/C] rs4694181 4 70004010 [A/C] rs4415024 4 70005443 [T/C] rs6600900 4 70013537 [A/G] rs4273535 4 70019933 [T/G] rs4593203 4 70031620 [A/G] rs4326078 4 70058335 [A/C] rs4694199 4 70059980 [A/G] indel.81215 4 70066340 [D/I] NM_001073 UGT2B11 EXON indel.81216 4 70074089 [D/I] NM_001073 UGT2B11 EXON indel.81217 4 70078392 [D/I] NM_001073 UGT2B11 EXON kgp29210695 4 70079744 [C/G] NM_001073 UGT2B11 EXON Missense_D233H indel.81219 4 70079942 [I/D] NM_001073 UGT2B11 EXON kgp6788842 4 70079951 [C/G] NM_001073 UGT2B11 EXON Missense_L164V kgp20683700 4 70079963 [A/G] NM_001073 UGT2B11 EXON Synonymous_L160L kgp2154192 4 70079975 [A/G] NM_001073 UGT2B11 EXON Missense_C156R indel.81221 4 70080394 [D/I] NM_001073 UGT2B11 EXON rs6817250 4 70088601 [T/C] rs10032551 4 70112313 [A/G] rs11939111 4 70115470 [T/G] rs6830865 4 70120699 [T/C] kgp29118348 4 70146465 [A/G] NM_053039,NM_001207004 UGT2B28,UGT2B28 EXON Missense_K83E,Missense_K83E indel.81224 4 70146779 [D/I] NM_053039,NM_001207004 UGT2B28,UGT2B28 EXON exm2077856 4 70152488 [T/C] NM_053039,NM_001207004 UGT2B28,UGT2B28 EXON Nonsense_Q297X,Nonsense_Q297X indel.81225 4 70160343 [D/I] NM_053039,NM_001207004 UGT2B28,UGT2B28 EXON indel.81226 4 70160373 [D/I] NM_053039,NM_001207004 UGT2B28,UGT2B28 EXON rs7693378 4 70234419 [A/C] rs12505338 4 70255961 [A/G] rs4694733 4 70266213 [T/G] rs2736509 4 70287303 [T/G] rs2254718 4 70288522 [A/G] rs2736488 4 70297879 [T/C] rs2736486 4 70299686 [T/C] rs6600933 4 70310691 [A/G] rs1845549 4 70317551 [A/C] rs12505081 4 70321293 [A/G] rs2736467 4 70325709 [A/G] rs1353280 4 70328040 [T/C] rs903446 4 70336501 [A/G] rs1569342 4 70341550 [A/G] rs1131878 4 70345904 [T/C] NM_021139 UGT2B4 EXON Silent kgp21138855 4 70346057 [T/G] NM_021139 UGT2B4 EXON Silent rs1966151 4 70346127 [A/G] NM_021139 UGT2B4 EXON Silent indel.81227 4 70346360 [I/D] NM_021139 UGT2B4 EXON exm2241221 4 70346408 [A/G] NM_021139 UGT2B4 EXON Missense_C511R rs1121124 4 70350444 [A/C] NM_021139 UGT2B4 Silent kgp29056940 4 70351060 [A/G] NM_021139 UGT2B4 EXON Synonymous_G392G variant.81232 4 70352326 [A/C] NM_021139 UGT2B4 Silent indel.81233 4 70352340 [I/D] NM_021139 UGT2B4 EXON exm403516 4 70352362 [T/C] NM_021139 UGT2B4 EXON Missense_R352Q rs1845555 4 70355211 [T/C] NM_021139 UGT2B4 EXON Synonymous_T316T exm403527 4 70359421 [G/C] NM_021139 UGT2B4 EXON Missense_P287R kgp21028703 4 70359452 [T/C] NM_021139 UGT2B4 EXON Missense_V277I variant.81234 4 70360857 [A/G] NM_021139 UGT2B4 Silent exm403538 4 70360912 [A/C] NM_021139 UGT2B4 EXON Missense_W223L exm403543 4 70360987 [A/G] NM_021139 UGT2B4 EXON Missense_M198T exm403548 4 70361099 [T/C] NM_021139 UGT2B4 EXON Missense_A161T exm403552 4 70361138 [A/C] NM_021139 UGT2B4 EXON Missense_V148F exm403555 4 70361182 [T/C] NM_021139 UGT2B4 EXON Missense_N133S exm403559 4 70361342 [A/G] NM_021139 UGT2B4 EXON Missense_S80P exm403560 4 70361348 [T/G] NM_021139 UGT2B4 EXON Missense_P78T exm403562 4 70361396 [T/C] NM_021139 UGT2B4 EXON Missense_I62V exm403563 4 70361431 [T/C] NM_021139 UGT2B4 EXON Missense_G50D rs2736442 4 70362742 [A/G] rs13151633 4 70395452 [A/G] rs1603117 4 70395945 [A/G] rs6825148 4 70405837 [T/C] rs7687676 4 70449652 [A/G] kgp20723260 4 70454306 [T/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Silent,Silent,Silent,Silent kgp20995559 4 70454724 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Silent,Silent,Silent,Silent kgp21190047 4 70454734 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Silent,Silent,Silent,Silent kgp2909380 4 70454758 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Silent,Silent,Silent,Silent exm403575 4 70455211 [T/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_S654Y,Missense_S497Y,Missense_S488Y,Missense_S488Y indel.81238 4 70455310 [D/I] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON rs2288741 4 70455478 [T/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 Silent,Silent,Silent,Silent rs4148307 4 70457556 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 Silent,Silent,Silent,Silent rs1432327 4 70457877 [A/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 Silent,Silent,Silent,Silent exm2077936 4 70460199 [T/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_P600T,Missense_P443T,Missense_P434T,Missense_P434T exm403586 4 70460217 [T/A] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Nonsense_R594X,Nonsense_R437X,Nonsense_R428X,Nonsense_R428X rs4148304 4 70460328 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_V557I,Missense_V400I,Missense_V391I,Missense_V391I indel.81242 4 70460333 [I/D] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON exm403597 4 70460361 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_E546K,Missense_E389K,Missense_E380K,Missense_E380K variant.81243 4 70460902 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Nonsense_W520X,Nonsense_W363X,Nonsense_W354X,Nonsense_W354X indel.81244 4 70460908 [I/D] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON exm403606 4 70460939 [C/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_P508R,Missense_P351R,Missense_P342R,Missense_P342R exm403607 4 70460940 [T/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_P508T,Missense_P351T,Missense_P342T,Missense_P342T exm403609 4 70460944 [A/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_K506N,Missense_K349N,Missense_K340N,Missense_K340N newrs139337193 4 70460968 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 Silent,Silent,Silent,Silent exm403610 4 70460968 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 Silent,Silent,Silent,Silent variant.81246 4 70461963 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 Silent,Silent,Silent,Silent indel.81248 4 70462032 [D/I] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON exm403615 4 70462042 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Silent,Missense_G317R,Silent,Missense_G308R variant.81249 4 70462090 [A/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Silent,Nonsense_E301X,Silent,Nonsense_E292X rs1432316 4 70463600 [T/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 Silent,Silent,Silent,Silent variant.81250 4 70464988 [T/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Nonsense_C490X,Nonsense_C289X,Nonsense_C324X,Nonsense_C280X exm403620 4 70465005 [A/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_V485F,Missense_V284F,Missense_V319F,Missense_V275F exm403624 4 70465059 [A/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Nonsense_R467X,Nonsense_R266X,Nonsense_R301X,Nonsense_R257X newrs138827969 4 70465059 [A/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Nonsense_R467X,Nonsense_R266X,Nonsense_R301X,Nonsense_R257X rs3775782 4 70465153 [T/A] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 Silent,Silent,Silent,Silent rs1432313 4 70466810 [T/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 Silent,Silent,Silent,Silent rs11728546 4 70477328 [T/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 Silent,Silent,Silent,Silent rs6848997 4 70478971 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 Silent,Silent,Silent,Silent rs4148291 4 70483323 [A/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 Silent,Silent,Silent,Silent rs6824830 4 70485627 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 Silent,Silent,Silent,Silent exm403627 4 70504668 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_I432V,Missense_I231V,Silent,Silent exm403629 4 70504722 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_M414V,Missense_M213V,Silent,Silent exm403631 4 70504751 [A/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_P404L,Missense_P203L,Silent,Silent exm403633 4 70504823 [C/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_T380R,Missense_T179R,Silent,Silent exm403635 4 70504890 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_V358I,Missense_V157I,Silent,Silent exm403639 4 70504993 [T/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_K323N,Missense_K122N,Silent,Silent exm403640 4 70505036 [A/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_P309L,Missense_P108L,Silent,Silent exm403641 4 70505050 [C/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_W304C,Missense_W103C,Silent,Silent exm403643 4 70505072 [A/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_I297T,Missense_I96T,Silent,Silent exm403648 4 70505154 [A/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_F270L,Missense_F69L,Silent,Silent exm403649 4 70505162 [A/G] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Missense_A267V,Missense_A66V,Silent,Silent kgp20895718 4 70505269 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Silent,Synonymous_G30G,Silent,Silent kgp20735966 4 70505355 [T/C] NM_001252274,NM_001105677,NM_001252275,NM_006798 UGT2A1,UGT2A2,UGT2A1,UGT2A1 EXON Silent,Missense_V2I,Silent,Silent rs11936310 4 70506120 [A/G] NM_001252274,NM_001252275,NM_006798 UGT2A1,UGT2A1,UGT2A1 Silent,Silent,Silent exm403661 4 70512693 [T/C] NM_001252274,NM_001252275,NM_006798 UGT2A1,UGT2A1,UGT2A1 EXON Missense_E224K,Missense_E224K,Missense_E224K kgp9443353 4 70512721 [T/G] NM_001252274,NM_001252275,NM_006798 UGT2A1,UGT2A1,UGT2A1 EXON Synonymous_I214I,Synonymous_I214I,Synonymous_I214I kgp8811655 4 70512773 [A/G] NM_001252274,NM_001252275,NM_006798 UGT2A1,UGT2A1,UGT2A1 EXON Missense_L197S,Missense_L197S,Missense_L197S exm403666 4 70512773 [A/G] NM_001252274,NM_001252275,NM_006798 UGT2A1,UGT2A1,UGT2A1 EXON Missense_L197S,Missense_L197S,Missense_L197S exm403667 4 70512787 [T/A] NM_001252274,NM_001252275,NM_006798 UGT2A1,UGT2A1,UGT2A1 EXON Nonsense_Y192X,Nonsense_Y192X,Nonsense_Y192X exm403668 4 70512801 [A/G] NM_001252274,NM_001252275,NM_006798 UGT2A1,UGT2A1,UGT2A1 EXON Missense_Y188H,Missense_Y188H,Missense_Y188H exm403673 4 70512978 [T/C] NM_001252274,NM_001252275,NM_006798 UGT2A1,UGT2A1,UGT2A1 EXON Missense_V129I,Missense_V129I,Missense_V129I newrs140580802 4 70513049 [T/C] NM_001252274,NM_001252275,NM_006798 UGT2A1,UGT2A1,UGT2A1 EXON Nonsense_W105X,Nonsense_W105X,Nonsense_W105X variant.81258 4 70513122 [A/C] NM_001252274,NM_001252275,NM_006798 UGT2A1,UGT2A1,UGT2A1 EXON Nonsense_E81X,Nonsense_E81X,Nonsense_E81X exm403684 4 70513139 [T/C] NM_001252274,NM_001252275,NM_006798 UGT2A1,UGT2A1,UGT2A1 EXON Missense_R75K,Missense_R75K,Missense_R75K indel.81259 4 70513146 [I/D] NM_001252274,NM_001252275,NM_006798 UGT2A1,UGT2A1,UGT2A1 EXON exm403687 4 70513163 [T/G] NM_001252274,NM_001252275,NM_006798 UGT2A1,UGT2A1,UGT2A1 EXON Missense_P67Q,Missense_P67Q,Missense_P67Q exm403690 4 70513199 [A/G] NM_001252274,NM_001252275,NM_006798 UGT2A1,UGT2A1,UGT2A1 EXON Missense_A55V,Missense_A55V,Missense_A55V indel.81260 4 70513352 [D/I] NM_001252274,NM_001252275,NM_006798 UGT2A1,UGT2A1,UGT2A1 EXON exm403696 4 70513361 [A/G] NM_001252274,NM_001252275,NM_006798 UGT2A1,UGT2A1,UGT2A1 EXON Missense_M1T,Missense_M1T,Missense_M1T rs4148279 4 70514358 [T/C] NM_001252274,NM_001252275,NM_006798 UGT2A1,UGT2A1,UGT2A1 Silent,Silent,Silent rs4395582 4 70519417 [A/G] rs10033854 4 70519904 [A/G] rs11249456 4 70540563 [T/C] rs1587765 4 70567104 [A/G] rs4694242 4 70584038 [A/G] rs7696239 4 70586610 [A/G] rs17620185 4 70587338 [A/G] rs9685617 4 70588741 [T/G] rs2292092 4 70592790 [T/G] NM_014465 SULT1B1 EXON Silent exm403702 4 70592820 [A/G] NM_014465 SULT1B1 EXON Missense_R293C exm403706 4 70592915 [A/G] NM_014465 SULT1B1 EXON Missense_T261M exm403707 4 70592917 [A/C] NM_014465 SULT1B1 EXON Synonymous_G260G newrs148007908 4 70596214 [T/G] NM_014465 SULT1B1 Silent exm403709 4 70596224 [T/C] NM_014465 SULT1B1 EXON Missense_R258H exm403710 4 70596225 [G/C] NM_014465 SULT1B1 EXON Missense_R258G exm403712 4 70596332 [T/C] NM_014465 SULT1B1 EXON Missense_D222G exm2241226 4 70596340 [C/G] NM_014465 SULT1B1 EXON Missense_E219D rs4149416 4 70596385 [T/G] NM_014465 SULT1B1 EXON Missense_E204D exm403715 4 70596385 [T/G] NM_014465 SULT1B1 EXON Missense_E204D exm403716 4 70599137 [T/C] NM_014465 SULT1B1 EXON Missense_M197I rs13106114 4 70599164 [A/T] NM_014465 SULT1B1 EXON Synonymous_P188P rs13152058 4 70599187 [A/C] NM_014465 SULT1B1 EXON Missense_W181G exm403720 4 70599222 [T/G] NM_014465 SULT1B1 EXON Missense_A169D rs1394038 4 70599386 [T/C] NM_014465 SULT1B1 Silent indel.81264 4 70599864 [D/I] NM_014465 SULT1B1 EXON exm2241227 4 70599907 [A/G] NM_014465 SULT1B1 EXON Missense_P151S exm403725 4 70599925 [A/C] NM_014465 SULT1B1 EXON Missense_L145V exm2077973 4 70599952 [T/C] NM_014465 SULT1B1 EXON Missense_V136I rs13133166 4 70600199 [C/G] NM_014465 SULT1B1 Silent rs1604747 4 70614259 [A/G] NM_014465 SULT1B1 Silent variant.81265 4 70615454 [T/C] NM_014465 SULT1B1 EXON Nonsense_W120X var_4_70620387 4 70620387 [T/C] NM_014465 SULT1B1 Silent variant.81267 4 70620399 [A/C] NM_014465 SULT1B1 EXON Nonsense_L89X indel.81268 4 70620844 [I/D] NM_014465 SULT1B1 EXON exm403747 4 70620858 [T/G] NM_014465 SULT1B1 EXON Missense_S26R exm403752 4 70620911 [A/G] NM_014465 SULT1B1 EXON Nonsense_R9X kgp11563979 4 70623615 [A/G] NM_014465 SULT1B1 Silent kgp21088220 4 70626202 [T/C] NM_014465 SULT1B1 EXON Silent rs7662705 4 70676336 [A/G] rs1220709 4 70677967 [T/C] rs1581680 4 70684350 [T/C] rs11573801 4 70706991 [A/G] NM_005420 SULT1E1 EXON Silent kgp21300876 4 70707055 [C/G] NM_005420 SULT1E1 EXON Silent kgp22756672 4 70707582 [A/C] NM_005420 SULT1E1 EXON Silent indel.81269 4 70707708 [I/D] NM_005420 SULT1E1 EXON rs2331821 4 70708461 [T/C] NM_005420 SULT1E1 Silent rs3775777 4 70709510 [A/G] NM_005420 SULT1E1 Silent rs11569712 4 70709893 [T/G] NM_005420 SULT1E1 EXON Missense_P253H kgp21138287 4 70715192 [A/G] NM_005420 SULT1E1 EXON Synonymous_S153S exm2078010 4 70715206 [G/C] NM_005420 SULT1E1 EXON Missense_P149A exm403770 4 70715260 [G/C] NM_005420 SULT1E1 EXON Missense_A131P rs11569714 4 70721053 [A/G] NM_005420 SULT1E1 EXON Synonymous_P79P exm403782 4 70723299 [A/C] NM_005420 SULT1E1 EXON Missense_D22Y kgp3228923 4 70725821 [T/C] NM_005420 SULT1E1 EXON Silent rs1590128 4 70734059 [A/G] rs13122069 4 70753524 [A/G] rs12507764 4 70756086 [A/G] rs10518069 4 70768646 [T/G] rs12650947 4 70783348 [T/C] rs4694257 4 70789170 [T/C] variant.81273 4 70798260 [A/G] NM_001890,NM_001025104 CSN1S1,CSN1S1 Silent,Silent indel.81274 4 70798290 [I/D] NM_001890,NM_001025104 CSN1S1,CSN1S1 EXON exm403787 4 70799939 [G/C] NM_001890,NM_001025104 CSN1S1,CSN1S1 EXON Missense_L21V,Missense_L21V variant.81276 4 70799962 [A/G] NM_001890,NM_001025104 CSN1S1,CSN1S1 EXON Synonymous_Q28Q,Synonymous_Q28Q newrs189052160 4 70799967 [A/G] NM_001890,NM_001025104 CSN1S1,CSN1S1 Silent,Silent exm403800 4 70802283 [C/G] NM_001890,NM_001025104 CSN1S1,CSN1S1 Silent,Silent variant.81279 4 70802867 [A/G] NM_001890,NM_001025104 CSN1S1,CSN1S1 Silent,Silent exm403803 4 70803539 [A/G] NM_001890,NM_001025104 CSN1S1,CSN1S1 EXON Missense_E81K,Missense_E80K variant.81280 4 70803543 [T/C] NM_001890,NM_001025104 CSN1S1,CSN1S1 Silent,Silent variant.81281 4 70803546 [A/G] NM_001890,NM_001025104 CSN1S1,CSN1S1 Silent,Silent exm403808 4 70804909 [A/G] NM_001890,NM_001025104 CSN1S1,CSN1S1 EXON Missense_I87V,Missense_I86V exm403814 4 70807771 [T/C] NM_001890,NM_001025104 CSN1S1,CSN1S1 EXON Missense_A117V,Missense_A108V variant.81286 4 70808208 [A/G] NM_001890,NM_001025104 CSN1S1,CSN1S1 Silent,Silent exm403820 4 70810605 [A/G] NM_001890,NM_001025104 CSN1S1,CSN1S1 EXON Missense_Y147C,Missense_Y138C 1KG_4_70810660 4 70810660 [D/I] NM_001890,NM_001025104 CSN1S1,CSN1S1 EXON exm403822 4 70810661 [G/C] NM_001890,NM_001025104 CSN1S1,CSN1S1 EXON Missense_D166H,Missense_D157H rs1388354 4 70818296 [A/G] rs1491429 4 70820800 [A/G] exm403831 4 70823060 [T/G] NM_001891 CSN2 EXON Missense_L203I exm403832 4 70823081 [A/G] NM_001891 CSN2 EXON Missense_L196F exm2078041 4 70823167 [A/G] NM_001891 CSN2 EXON Missense_P167L exm403838 4 70823168 [A/G] NM_001891 CSN2 EXON Missense_P167S exm403842 4 70823302 [A/G] NM_001891 CSN2 EXON Missense_T122M exm2078044 4 70823320 [A/G] NM_001891 CSN2 EXON Missense_P116L indel.81288 4 70823329 [D/I] NM_001891 CSN2 EXON variant.81290 4 70825798 [T/C] NM_001891 CSN2 Silent rs9994584 4 70833723 [T/G] rs776840 4 70836155 [T/G] exm403866 4 70864165 [T/C] NM_003154,NM_001009181 STATH,STATH EXON Missense_L4P,Missense_L4P exm403867 4 70864179 [T/A] NM_003154,NM_001009181 STATH,STATH EXON Missense_I9F,Missense_I9F variant.81292 4 70865405 [A/G] NM_003154,NM_001009181 STATH,STATH Silent,Silent exm2078060 4 70865507 [A/G] NM_003154,NM_001009181 STATH,STATH EXON Missense_R28H,Silent exm403880 4 70866636 [A/C] NM_003154,NM_001009181 STATH,STATH EXON Nonsense_Y53X,Nonsense_Y43X rs10031583 4 70868585 [T/G] newrs145531373 4 70897721 [T/G] NM_000200 HTN3 Silent exm403898 4 70898922 [A/T] NM_000200 HTN3 EXON Nonsense_Y47X variant.81297 4 70898970 [A/G] NM_000200 HTN3 EXON Silent variant.81298 4 70898972 [T/G] NM_000200 HTN3 Silent rs7667935 4 70899111 [A/G] NM_000200 HTN3 Silent rs2331856 4 70910928 [A/G] rs2138269 4 70911720 [A/C] rs6853611 4 70917031 [A/G] NM_002159 HTN1 Silent exm403908 4 70918817 [A/C] NM_002159 HTN1 EXON Missense_L8F exm403916 4 70920061 [T/C] NM_002159 HTN1 Silent exm403931 4 70921227 [T/C] NM_002159 HTN1 EXON Missense_S39P exm403934 4 70921282 [A/G] NM_002159 HTN1 EXON Missense_N57S variant.81302 4 70921321 [T/C] NM_002159 HTN1 Silent variant.81303 4 70921324 [T/G] NM_002159 HTN1 Silent rs11249476 4 70934328 [T/G] NR_003720 CSN1S2AP Silent rs1040281 4 70968924 [A/G] rs13107309 4 70980547 [T/C] rs17148188 4 70982011 [A/G] rs1607989 4 70990224 [A/G] rs1399252 4 70999619 [A/C] NR_033311 CSN1S2BP Silent rs3775759 4 71008940 [T/C] NR_033311 CSN1S2BP Silent variant.81304 4 71021769 [A/G] NM_214711 C4orf40 Silent exm403945 4 71024099 [A/G] NM_214711 C4orf40 EXON Missense_I44V exm2078084 4 71024102 [T/C] NM_214711 C4orf40 EXON Missense_R45W exm2078085 4 71024132 [A/C] NM_214711 C4orf40 EXON Missense_P55T variant.81306 4 71024155 [A/C] NM_214711 C4orf40 EXON Nonsense_Y62X exm403949 4 71024171 [A/G] NM_214711 C4orf40 EXON Missense_T68A exm403954 4 71024240 [T/C] NM_214711 C4orf40 EXON Missense_R91C exm403956 4 71024268 [A/G] NM_214711 C4orf40 EXON Missense_N100S exm2078087 4 71024346 [A/C] NM_214711 C4orf40 EXON Missense_A126D exm2078088 4 71024376 [A/C] NM_214711 C4orf40 EXON Missense_A136D exm403971 4 71024451 [A/G] NM_214711 C4orf40 EXON Missense_E161G exm403983 4 71024526 [T/C] NM_214711 C4orf40 EXON Missense_V186A exm403984 4 71024530 [C/G] NM_214711 C4orf40 EXON Missense_E187D exm403987 4 71024552 [C/G] NM_214711 C4orf40 EXON Missense_P195A rs11735430 4 71025548 [T/G] NM_214711 C4orf40 Silent rs13151337 4 71045118 [T/C] rs10049496 4 71046288 [A/G] rs1709276 4 71046529 [T/C] rs17652789 4 71051031 [T/C] exm404001 4 71063018 [T/C] NM_017855 ODAM EXON Missense_L41F exm404008 4 71063773 [T/C] NM_017855 ODAM EXON Missense_P92S exm404010 4 71063801 [A/G] NM_017855 ODAM EXON Missense_Q101R variant.81309 4 71063803 [T/G] NM_017855 ODAM EXON Nonsense_G102X variant.81311 4 71063875 [A/G] NM_017855 ODAM Silent variant.81313 4 71064344 [T/G] NM_017855 ODAM Silent exm404024 4 71066238 [A/G] NM_017855 ODAM EXON Missense_M150V variant.81314 4 71066252 [A/G] NM_017855 ODAM EXON Nonsense_W154X indel.81315 4 71066278 [D/I] NM_017855 ODAM EXON rs4694273 4 71067317 [A/C] NM_017855 ODAM Silent exm404034 4 71068489 [T/C] NM_017855 ODAM EXON Missense_I222T rs3775756 4 71069113 [T/C] NM_017855 ODAM Silent rs1828826 4 71081038 [T/C] rs17148368 4 71083238 [A/C] exm404047 4 71098730 [A/G] NM_152997 FDCSP EXON Missense_R26Q exm404057 4 71099870 [A/C] NM_152997 FDCSP EXON Missense_S75Y exm404060 4 71099896 [A/G] NM_152997 FDCSP EXON Missense_E84K rs2249813 4 71106017 [T/C] exm404068 4 71114793 [A/C] NM_005212 CSN3 EXON Missense_P56T exm404074 4 71114913 [T/C] NM_005212 CSN3 EXON Missense_R96W exm404075 4 71114914 [A/G] NM_005212 CSN3 EXON Missense_R96Q exm404080 4 71114965 [T/C] NM_005212 CSN3 EXON Missense_L113P exm404083 4 71115045 [A/G] NM_005212 CSN3 EXON Missense_V140I exm404085 4 71115060 [A/G] NM_005212 CSN3 EXON Missense_A145T exm404092 4 71115159 [A/G] NM_005212 CSN3 EXON Missense_T178A rs17148451 4 71127403 [T/C] rs13127641 4 71142199 [T/C] rs1842469 4 71150652 [T/C] rs10007509 4 71171720 [A/C] rs4421051 4 71184850 [T/C] rs9329032 4 71185226 [A/G] rs1904851 4 71185783 [A/G] rs2013685 4 71190111 [A/G] rs717360 4 71190301 [T/C] exm404093 4 71200799 [A/G] NM_033122 CABS1 EXON Missense_T15A exm2241231 4 71200844 [A/G] NM_033122 CABS1 EXON Missense_A30T exm2241232 4 71200982 [A/C] NM_033122 CABS1 EXON Missense_K76Q exm404115 4 71201388 [T/C] NM_033122 CABS1 EXON Missense_T211I exm404121 4 71201545 [G/C] NM_033122 CABS1 EXON Missense_K263N exm404125 4 71201648 [T/G] NM_033122 CABS1 EXON Missense_W298G exm2274017 4 71201682 [T/C] NM_033122 CABS1 EXON Missense_T309I rs13039 4 71201943 [A/G] NM_033122 CABS1 EXON Synonymous_X396X rs9992346 4 71206687 [T/C] rs4694051 4 71207398 [T/C] exm2269772 4 71207398 [T/C] rs6600813 4 71218054 [T/C] rs17148794 4 71226962 [A/C] NM_012390 SMR3A Silent exm404147 4 71232430 [T/C] NM_012390 SMR3A EXON Missense_C42R exm404151 4 71232496 [T/C] NM_012390 SMR3A EXON Missense_P64S exm2078161 4 71232520 [A/G] NM_012390 SMR3A EXON Missense_G72S exm404162 4 71232701 [T/C] NM_012390 SMR3A EXON Missense_P132L rs1813261 4 71233986 [A/C] rs11249497 4 71237421 [T/C] rs6600824 4 71252241 [A/G] NM_006685 SMR3B Silent exm404178 4 71255423 [A/G] NM_006685 SMR3B EXON Missense_G33E exm404180 4 71255465 [T/C] NM_006685 SMR3B EXON Missense_P47L rs1490482 4 71260539 [T/C] rs4426856 4 71263790 [T/G] NM_021225 PROL1 Silent rs11938536 4 71264191 [A/C] NM_021225 PROL1 Silent rs7682761 4 71265840 [T/C] NM_021225 PROL1 Silent rs6827846 4 71272547 [A/G] NM_021225 PROL1 Silent indel.81324 4 71275201 [I/D] NM_021225 PROL1 EXON exm404193 4 71275232 [T/C] NM_021225 PROL1 EXON Missense_L63F exm404196 4 71275250 [T/C] NM_021225 PROL1 EXON Nonsense_R69X variant.81326 4 71275301 [T/C] NM_021225 PROL1 EXON Nonsense_Q86X exm404206 4 71275469 [A/C] NM_021225 PROL1 EXON Missense_P142T exm404207 4 71275480 [A/C] NM_021225 PROL1 EXON Missense_N145K exm404209 4 71275490 [A/G] NM_021225 PROL1 EXON Missense_A149T exm404223 4 71275759 [T/G] NM_021225 PROL1 EXON Missense_S238R exm404224 4 71275769 [A/C] NM_021225 PROL1 EXON Missense_K242Q exm2276910 4 71275790 [T/C] NM_021225 PROL1 EXON Missense_X249R rs17148915 4 71296050 [T/C] rs2172006 4 71311646 [A/C] NM_001145006 MUC7 Silent rs1109501 4 71329490 [A/G] NM_001145006 MUC7 Silent exm-rs1109501 4 71329490 [A/G] NM_001145006 MUC7 Silent exm404226 4 71339723 [A/G] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 Silent,Silent,Silent newrs2306949 4 71339723 [A/G] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 Silent,Silent,Silent exm404233 4 71346606 [T/C] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_P49S,Missense_P49S,Missense_P49S exm404236 4 71346701 [C/G] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_N80K,Missense_N80K,Missense_N80K rs6826961 4 71346701 [C/G] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_N80K,Missense_N80K,Missense_N80K exm404240 4 71346784 [A/C] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_T108K,Missense_T108K,Missense_T108K exm404244 4 71346943 [T/C] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_A161V,Missense_A161V,Missense_A161V exm404245 4 71346966 [A/C] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_P169T,Missense_P169T,Missense_P169T exm404276 4 71347281 [A/G] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_A274T,Missense_A274T,Missense_A274T exm404278 4 71347333 [T/C] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_T291I,Missense_T291I,Missense_T291I exm404284 4 71347407 [A/G] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_T316A,Missense_T316A,Missense_T316A exm404285 4 71347422 [A/G] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_D321N,Missense_D321N,Missense_D321N exm404293 4 71347497 [A/C] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_Q346K,Missense_Q346K,Missense_Q346K exm404296 4 71347577 [A/C] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Missense_D372E,Missense_D372E,Missense_D372E rs3733491 4 71347854 [A/G] NM_001145006,NM_001145007,NM_152291 MUC7,MUC7,MUC7 EXON Silent,Silent,Silent rs4694317 4 71351436 [A/C] rs17838972 4 71357077 [A/G] rs17148999 4 71362025 [A/G] rs17732035 4 71362151 [T/C] rs17675439 4 71363289 [A/G] rs3864157 4 71368508 [T/G] rs3852091 4 71372099 [A/G] rs17149002 4 71372596 [A/G] rs17732605 4 71376022 [T/C] rs3852093 4 71376829 [A/G] exm404305 4 71384537 [T/C] NM_212557 AMTN EXON Missense_R15W exm404307 4 71384546 [T/C] NM_212557 AMTN EXON Missense_P18S newrs141338494 4 71384549 [A/G] NM_212557 AMTN Silent rs28420645 4 71385167 [T/C] NM_212557 AMTN Silent exm404312 4 71388515 [T/C] NM_212557 AMTN EXON Missense_P33L exm404313 4 71388551 [A/G] NM_212557 AMTN EXON Missense_N45S rs7660807 4 71388551 [A/G] NM_212557 AMTN EXON Missense_N45S exm404316 4 71389594 [T/C] NM_212557 AMTN EXON Missense_S50P exm404324 4 71390616 [A/G] NM_212557 AMTN EXON Missense_G78S exm404326 4 71390647 [A/G] NM_212557 AMTN EXON Missense_G88E exm404328 4 71394470 [A/G] NM_212557 AMTN EXON Missense_A109T newrs142798658 4 71394928 [T/G] NM_212557 AMTN Silent exm404334 4 71396783 [T/C] NM_212557 AMTN EXON Missense_H129Y exm2241240 4 71396909 [T/C] NM_212557 AMTN EXON Missense_R171C variant.81339 4 71397018 [A/G] NM_212557 AMTN Silent rs4024031 4 71403159 [T/C] rs28408923 4 71407154 [T/C] rs28719939 4 71419827 [T/C] rs3852105 4 71422796 [T/C] rs1490470 4 71439354 [A/G] exm2265716 4 71439354 [A/G] rs17733915 4 71447093 [T/C] rs28661403 4 71453028 [A/G] rs28660083 4 71455685 [A/G] exm2241241 4 71459092 [A/G] NM_016519 AMBN EXON Missense_E22K newrs144537125 4 71459112 [A/G] NM_016519 AMBN EXON Synonymous_P28P rs3924573 4 71459248 [A/G] NM_016519 AMBN Silent exm404357 4 71465278 [G/C] NM_016519 AMBN EXON Nonsense_S70X exm404360 4 71465302 [T/G] NM_016519 AMBN EXON Missense_G78V variant.81343 4 71467175 [A/C] NM_016519 AMBN EXON Nonsense_S112X exm2078224 4 71467214 [A/C] NM_016519 AMBN EXON Missense_P125H exm404372 4 71468348 [G/C] NM_016519 AMBN EXON Missense_G180A exm2078232 4 71468351 [T/C] NM_016519 AMBN EXON Missense_V181A variant.81344 4 71468729 [T/G] NM_016519 AMBN Silent exm404383 4 71468993 [A/G] NM_016519 AMBN EXON Missense_R222H exm404395 4 71469604 [T/C] NM_016519 AMBN EXON Missense_A255V rs7694409 4 71470174 [A/G] NM_016519 AMBN Silent exm404398 4 71471905 [A/G] NM_016519 AMBN EXON Missense_G268R exm404400 4 71471958 [A/G] NM_016519 AMBN EXON Missense_M285I exm404404 4 71472001 [A/G] NM_016519 AMBN EXON Missense_G300S exm404407 4 71472053 [A/C] NM_016519 AMBN EXON Missense_E317A exm404417 4 71472164 [T/C] NM_016519 AMBN EXON Missense_L354P exm404424 4 71472275 [T/C] NM_016519 AMBN EXON Missense_L391S exm404432 4 71472409 [A/G] NM_016519 AMBN EXON Missense_E436K exm404434 4 71472424 [A/G] NM_016519 AMBN EXON Missense_A441T rs7680880 4 71472426 [A/G] NM_016519 AMBN EXON Synonymous_A441A exm2078250 4 71497408 [T/A] NM_031889 ENAM EXON Missense_I26F variant.81345 4 71498367 [A/G] NM_031889 ENAM Silent indel.81346 4 71498409 [I/D] NM_031889 ENAM EXON exm404457 4 71500047 [T/C] NM_031889 ENAM EXON Missense_F78S exm404459 4 71500065 [A/G] NM_031889 ENAM EXON Missense_Q84R exm404463 4 71500262 [A/G] NM_031889 ENAM EXON Missense_E150K exm404467 4 71507775 [A/G] NM_031889 ENAM EXON Missense_R211H newrs146706831 4 71507790 [T/C] NM_031889 ENAM EXON Missense_S216L exm404473 4 71507909 [A/C] NM_031889 ENAM EXON Missense_P256T exm404478 4 71507986 [A/C] NM_031889 ENAM EXON Missense_N281K exm404483 4 71508087 [A/G] NM_031889 ENAM EXON Missense_N315S exm404487 4 71508137 [A/G] NM_031889 ENAM EXON Missense_R332G exm2274018 4 71508215 [A/G] NM_031889 ENAM EXON Missense_G358S exm404493 4 71508222 [A/G] NM_031889 ENAM EXON Missense_R360Q exm404495 4 71508261 [A/G] NM_031889 ENAM EXON Missense_R373H exm404497 4 71508308 [A/G] NM_031889 ENAM EXON Missense_G389S exm404498 4 71508324 [A/T] NM_031889 ENAM EXON Missense_Y394F var_4_71508402 4 71508402 [D/I] NM_031889 ENAM EXON exm404510 4 71508522 [A/G] NM_031889 ENAM EXON Missense_N460S exm404511 4 71508539 [A/G] NM_031889 ENAM EXON Missense_V466I exm404515 4 71508697 [A/T] NM_031889 ENAM EXON Missense_K518N exm404518 4 71508799 [C/G] NM_031889 ENAM EXON Missense_I552M exm404519 4 71508869 [T/C] NM_031889 ENAM EXON Missense_F576L exm404527 4 71509086 [T/C] NM_031889 ENAM EXON Missense_I648T exm404534 4 71509314 [T/C] NM_031889 ENAM EXON Missense_P724L exm404544 4 71509415 [A/C] NM_031889 ENAM EXON Missense_T758P rs3796704 4 71509431 [A/G] NM_031889 ENAM EXON Missense_R763Q exm404545 4 71509431 [A/G] NM_031889 ENAM EXON Missense_R763Q exm404546 4 71509458 [A/C] NM_031889 ENAM EXON Missense_A772D indel.81350 4 71509651 [I/D] NM_031889 ENAM EXON exm2078276 4 71509672 [A/C] NM_031889 ENAM EXON Missense_R843S exm404561 4 71509980 [C/G] NM_031889 ENAM EXON Missense_R946T exm2256702 4 71510215 [T/C] NM_031889 ENAM EXON Synonymous_P1024P exm404580 4 71510420 [T/C] NM_031889 ENAM EXON Missense_P1093S exm404582 4 71510453 [A/C] NM_031889 ENAM EXON Missense_Q1104K exm404583 4 71510463 [A/G] NM_031889 ENAM EXON Missense_S1107N exm404587 4 71510549 [C/G] NM_031889 ENAM EXON Missense_D1136H var_4_71527816 4 71527816 [A/G] NM_144646 IGJ EXON Nonsense_R61X exm404606 4 71527881 [T/C] NM_144646 IGJ EXON Missense_R39Q exm404607 4 71532168 [A/T] NM_144646 IGJ EXON Missense_F14I rs10030711 4 71550980 [A/G] exm404616 4 71554462 [T/C] NM_020368 UTP3 EXON Missense_T23M exm404629 4 71554709 [T/G] NM_020368 UTP3 EXON Missense_E105D indel.81353 4 71554790 [I/D] NM_020368 UTP3 EXON exm404638 4 71554870 [A/G] NM_020368 UTP3 EXON Missense_R159K exm404642 4 71554974 [T/C] NM_020368 UTP3 EXON Missense_P194S exm404643 4 71554999 [A/G] NM_020368 UTP3 EXON Missense_R202Q exm404645 4 71555053 [A/G] NM_020368 UTP3 EXON Missense_R220Q exm404648 4 71555112 [A/G] NM_020368 UTP3 EXON Missense_V240I exm2078302 4 71555361 [T/C] NM_020368 UTP3 EXON Missense_R323C exm404663 4 71555573 [A/C] NM_020368 UTP3 EXON Missense_E393D exm404664 4 71555595 [A/G] NM_020368 UTP3 EXON Missense_A401T exm404665 4 71555598 [A/C] NM_020368 UTP3 EXON Missense_L402I exm404666 4 71555623 [T/C] NM_020368 UTP3 EXON Missense_A410V exm404667 4 71555656 [T/G] NM_020368 UTP3 EXON Missense_L421R indel.81356 4 71588468 [I/D] NM_001130709,NM_014961,NM_001037442 RUFY3,RUFY3,RUFY3 EXON rs3775730 4 71626572 [A/G] NM_001130709,NM_014961,NM_001037442 RUFY3,RUFY3,RUFY3 Silent,Silent,Silent exm404683 4 71629345 [T/C] NM_001130709,NM_014961,NM_001037442 RUFY3,RUFY3,RUFY3 EXON Synonymous_A203A,Synonymous_A143A,Synonymous_A143A rs10015958 4 71629537 [T/C] NM_001130709,NM_014961,NM_001037442 RUFY3,RUFY3,RUFY3 Silent,Silent,Silent exm404686 4 71634272 [A/G] NM_001130709,NM_014961,NM_001037442 RUFY3,RUFY3,RUFY3 EXON Missense_N257S,Missense_N197S,Missense_N197S exm404689 4 71634283 [A/G] NM_001130709,NM_014961,NM_001037442 RUFY3,RUFY3,RUFY3 EXON Missense_M261V,Missense_M201V,Missense_M201V exm404695 4 71639274 [A/G] NM_001130709,NM_014961,NM_001037442 RUFY3,RUFY3,RUFY3 EXON Missense_S308N,Missense_S248N,Missense_S248N exm404709 4 71654527 [T/A] NM_001130709,NM_014961,NM_001037442 RUFY3,RUFY3,RUFY3 EXON Missense_V419D,Missense_V359D,Missense_V359D exm2078328 4 71654677 [A/C] NM_001130709,NM_014961,NM_001037442 RUFY3,RUFY3,RUFY3 EXON Missense_A469D,Missense_A409D,Missense_A409D exm404716 4 71656975 [A/C] NM_014961,NM_001037442 RUFY3,RUFY3 EXON Missense_L457F,Silent exm404720 4 71659504 [T/C] NM_001037442 RUFY3 EXON Missense_L447S variant.81357 4 71659542 [A/G] NM_001037442 RUFY3 EXON Missense_D460N exm404724 4 71659549 [A/G] NM_001037442 RUFY3 EXON Missense_R462Q exm2241251 4 71659621 [A/G] NM_001037442 RUFY3 EXON Missense_R486Q indel.81358 4 71660543 [D/I] NM_001037442 RUFY3 EXON indel.81359 4 71660588 [D/I] NM_001037442 RUFY3 EXON exm404736 4 71665919 [A/G] NM_001037442 RUFY3 EXON Missense_H540R newrs147166750 4 71670135 [T/C] NM_001037442 RUFY3 Silent exm404750 4 71672317 [T/C] NM_001037442 RUFY3 EXON Nonsense_R602X variant.81362 4 71672317 [T/C] NM_001037442 RUFY3 EXON Nonsense_R602X exm404751 4 71672318 [A/G] NM_001037442 RUFY3 EXON Missense_R602Q rs1551892 4 71676233 [T/G] rs10938024 4 71685092 [A/C] NM_001098477,NM_002092 GRSF1,GRSF1 EXON Silent,Silent exm404761 4 71691057 [T/C] NM_001098477,NM_002092 GRSF1,GRSF1 EXON Missense_H288R,Missense_H450R exm404764 4 71691841 [A/G] NM_001098477,NM_002092 GRSF1,GRSF1 EXON Synonymous_N257N,Synonymous_N419N variant.81365 4 71697257 [A/G] NM_001098477,NM_002092 GRSF1,GRSF1 EXON Nonsense_R155X,Nonsense_R317X exm404780 4 71697344 [A/G] NM_001098477,NM_002092 GRSF1,GRSF1 EXON Nonsense_R126X,Nonsense_R288X exm404783 4 71698035 [T/C] NM_001098477,NM_002092 GRSF1,GRSF1 EXON Missense_D106G,Missense_D268G variant.81369 4 71698900 [T/G] NM_001098477,NM_002092 GRSF1,GRSF1 EXON Nonsense_S40X,Nonsense_S202X exm404800 4 71701905 [A/T] NM_001098477,NM_002092 GRSF1,GRSF1 EXON Silent,Missense_T162S exm404802 4 71701950 [T/C] NM_001098477,NM_002092 GRSF1,GRSF1 EXON Silent,Missense_D147N exm404806 4 71702024 [T/C] NM_001098477,NM_002092 GRSF1,GRSF1 EXON Silent,Missense_K122R rs3775729 4 71702684 [T/C] NM_001098477,NM_002092 GRSF1,GRSF1 Silent,Silent rs13137120 4 71719138 [A/G] rs12649012 4 71748245 [A/G] rs10433674 4 71761726 [T/C] rs12512502 4 71776935 [A/C] NM_001244766,NM_173468,NM_001244767 MOB1B,MOB1B,MOB1B Silent,Silent,Silent rs6446945 4 71791502 [T/C] NM_001244766,NM_173468,NM_001244767 MOB1B,MOB1B,MOB1B Silent,Silent,Silent rs16845597 4 71812665 [A/G] NM_001244766,NM_173468,NM_001244767 MOB1B,MOB1B,MOB1B Silent,Silent,Silent exm404819 4 71824635 [T/C] NM_001244766,NM_173468,NM_001244767 MOB1B,MOB1B,MOB1B EXON Missense_P25L,Missense_P20L,Missense_P20L exm404824 4 71824737 [A/G] NM_001244766,NM_173468,NM_001244767 MOB1B,MOB1B,MOB1B EXON Missense_N59S,Missense_N54S,Missense_N54S rs6446977 4 71849697 [T/C] NM_001244766,NM_173468 MOB1B,MOB1B EXON Silent,Silent exm404849 4 71859622 [A/G] NM_000788 DCK EXON Missense_I24V rs7684954 4 71875237 [A/G] NM_000788 DCK Silent exm404857 4 71888232 [G/C] NM_000788 DCK EXON Missense_A119G exm404859 4 71888240 [T/C] NM_000788 DCK EXON Missense_P122S variant.81370 4 71888258 [T/C] NM_000788 DCK EXON Nonsense_R128X exm404863 4 71889287 [T/C] NM_000788 DCK EXON Missense_A138V exm404865 4 71889409 [A/C] NM_000788 DCK EXON Missense_Q179K variant.81371 4 71891531 [A/G] NM_000788 DCK Silent variant.81372 4 71892391 [T/C] NM_000788 DCK EXON Synonymous_F225F rs10518081 4 71917988 [A/G] rs16845705 4 71926713 [A/G] rs6816128 4 71958094 [A/G] rs4694373 4 71975779 [T/C] rs2123430 4 71999712 [A/G] rs7694411 4 72006446 [T/C] rs1979537 4 72027476 [A/C] rs10938136 4 72040651 [A/G] rs2198341 4 72063044 [A/G] NM_001134742,NM_001098484 SLC4A4,SLC4A4 Silent,Silent rs2579302 4 72069713 [A/G] NM_001134742,NM_001098484 SLC4A4,SLC4A4 Silent,Silent exm2261750 4 72083374 [T/C] NM_001134742,NM_001098484 SLC4A4,SLC4A4 Silent,Silent rs2579362 4 72105088 [T/C] NM_001134742,NM_001098484 SLC4A4,SLC4A4 Silent,Silent rs12506660 4 72108593 [T/C] NM_001134742,NM_001098484 SLC4A4,SLC4A4 Silent,Silent exm404879 4 72121012 [C/G] NM_001134742,NM_001098484 SLC4A4,SLC4A4 EXON Missense_G50A,Missense_G50A exm404880 4 72121051 [A/G] NM_001134742,NM_001098484 SLC4A4,SLC4A4 EXON Missense_N63S,Missense_N63S rs1031420 4 72147944 [T/G] NM_001134742,NM_001098484 SLC4A4,SLC4A4 Silent,Silent rs930754 4 72163134 [T/C] NM_001134742,NM_001098484 SLC4A4,SLC4A4 Silent,Silent kgp102519 4 72164186 [T/C] NM_001134742,NM_001098484 SLC4A4,SLC4A4 Silent,Silent kgp1504476 4 72174542 [A/G] NM_001134742,NM_001098484 SLC4A4,SLC4A4 Silent,Silent var_4_72215654 4 72215654 [T/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Nonsense_E139X,Nonsense_E139X,Nonsense_E95X exm404898 4 72215750 [A/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_M171V,Missense_M171V,Missense_M127V exm404899 4 72215759 [T/C] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_R174W,Missense_R174W,Missense_R130W rs16846318 4 72239375 [T/C] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 Silent,Silent,Silent rs4314260 4 72278430 [T/C] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 Silent,Silent,Silent rs6854303 4 72282753 [A/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 Silent,Silent,Silent exm404928 4 72316967 [A/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_G424D,Missense_G424D,Missense_G380D variant.81374 4 72317008 [T/C] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Nonsense_R438X,Nonsense_R438X,Nonsense_R394X exm404933 4 72319212 [A/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Synonymous_R441R,Synonymous_R441R,Synonymous_R397R exm404934 4 72319250 [T/C] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_A454V,Missense_A454V,Missense_A410V rs4600889 4 72337490 [A/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 Silent,Silent,Silent exm404943 4 72338589 [A/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_K602R,Missense_K602R,Missense_K558R exm404946 4 72338684 [T/C] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_P634S,Missense_P634S,Missense_P590S rs4639040 4 72340242 [A/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 Silent,Silent,Silent rs6846301 4 72347491 [A/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 Silent,Silent,Silent exm404950 4 72352703 [A/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_E648K,Missense_E648K,Missense_E604K rs4469035 4 72360478 [T/C] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 Silent,Silent,Silent rs6858376 4 72361951 [A/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 Silent,Silent,Silent exm404953 4 72363294 [A/T] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_N684I,Missense_N684I,Missense_N640I rs6842334 4 72386350 [A/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 Silent,Silent,Silent rs2886107 4 72387926 [T/C] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 Silent,Silent,Silent rs7683903 4 72396727 [A/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 Silent,Silent,Silent exm2256707 4 72397788 [T/C] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Synonymous_L726L,Synonymous_L726L,Synonymous_L682L exm404961 4 72397855 [T/C] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_V748A,Missense_V748A,Missense_V704A exm404962 4 72397884 [G/C] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_E758Q,Missense_E758Q,Missense_E714Q exm404964 4 72399974 [T/C] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_P771S,Missense_P771S,Missense_P727S rs7693843 4 72405132 [T/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 Silent,Silent,Silent rs3733362 4 72412029 [A/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 Silent,Silent,Silent exm404976 4 72412109 [A/C] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_L829I,Missense_L829I,Missense_L785I exm404982 4 72413417 [T/C] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_F892L,Missense_F892L,Missense_F848L variant.81376 4 72413437 [A/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Synonymous_K898K,Synonymous_K898K,Synonymous_K854K rs1453458 4 72425863 [T/C] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Synonymous_H997H,Synonymous_H997H,Synonymous_H953H rs1031453 4 72427450 [A/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 Silent,Silent,Silent exm405006 4 72432747 [T/C] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Synonymous_N1042N,Missense_R1075C,Missense_R1031C exm2273392 4 72432790 [A/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_G1057S,Silent,Silent rs3816468 4 72433300 [T/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 Silent,Silent,Silent exm405009 4 72433545 [A/C] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_I1074L,Silent,Silent exm2078447 4 72433547 [A/G] NM_001134742,NM_001098484,NM_003759 SLC4A4,SLC4A4,SLC4A4 EXON Missense_I1074M,Silent,Silent rs1377523 4 72447421 [A/C] rs1597978 4 72469183 [A/G] rs17763915 4 72476761 [T/C] rs10212827 4 72481753 [T/C] rs2219070 4 72515260 [T/C] rs2177921 4 72531761 [A/G] rs13150933 4 72531863 [T/C] rs6446756 4 72543907 [T/C] rs4694421 4 72545947 [T/G] exm2265845 4 72547436 [A/G] rs377687 4 72569065 [A/G] rs1526692 4 72578724 [A/G] rs842990 4 72578956 [T/G] rs4694105 4 72592214 [T/C] rs6837549 4 72596821 [T/G] rs12512631 4 72601331 [T/C] exm-rs2282679 4 72608383 [T/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC Silent,Silent,Silent rs2282679 4 72608383 [T/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC Silent,Silent,Silent rs705120 4 72614140 [A/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC Silent,Silent,Silent newrs140971733 4 72618235 [T/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Synonymous_E465E,Synonymous_E484E,Synonymous_E465E exm405016 4 72618296 [T/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_H445R,Missense_H464R,Missense_H445R exm405017 4 72618297 [A/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_H445Y,Missense_H464Y,Missense_H445Y exm405020 4 72618323 [T/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_T436K,Missense_T455K,Missense_T436K exm405021 4 72618334 [A/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_D432E,Missense_D451E,Missense_D432E exm405026 4 72620162 [A/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_Y410H,Missense_Y429H,Missense_Y410H exm405028 4 72620726 [A/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_V378G,Missense_V397G,Missense_V378G exm405032 4 72620789 [A/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_P357L,Missense_P376L,Missense_P357L exm405033 4 72620808 [T/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_S351G,Missense_S370G,Missense_S351G exm405034 4 72620824 [T/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Synonymous_K345K,Synonymous_K364K,Synonymous_K345K exm405043 4 72622601 [T/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_N288D,Missense_N307D,Missense_N288D 1KG_4_72623850 4 72623850 [D/I] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON exm405057 4 72629574 [T/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_M185V,Missense_M204V,Missense_M185V exm405060 4 72629648 [A/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_M160T,Missense_M179T,Missense_M160T exm405064 4 72631182 [A/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_A147V,Missense_A166V,Missense_A147V variant.81379 4 72631195 [A/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Nonsense_E143X,Nonsense_E162X,Nonsense_E143X exm405068 4 72631218 [A/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_T135I,Missense_T154I,Missense_T135I exm405070 4 72631239 [T/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_H128P,Missense_H147P,Missense_H128P exm405078 4 72634084 [A/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_K65N,Missense_K84N,Missense_K65N 1KG_4_72635068 4 72635068 [D/I] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON exm405081 4 72635114 [T/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_R21Q,Missense_R40Q,Missense_R21Q exm2274019 4 72635115 [A/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Missense_R21W,Missense_R40W,Missense_R21W rs222020 4 72636272 [T/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC Silent,Silent,Silent rs1352844 4 72647749 [T/C] NM_000583,NM_001204307,NM_001204306 GC,GC,GC Silent,Silent,Silent rs3733359 4 72649774 [A/G] NM_000583,NM_001204307,NM_001204306 GC,GC,GC EXON Silent,Silent,Silent rs842889 4 72686078 [T/C] rs11737702 4 72689926 [A/G] rs10518091 4 72692763 [A/G] rs9291163 4 72699705 [T/C] exm2269773 4 72706235 [T/C] rs6851050 4 72707118 [A/G] rs962226 4 72707400 [T/C] rs962227 4 72707517 [A/G] rs1851024 4 72707821 [A/G] rs12639968 4 72712872 [T/C] rs6810725 4 72735132 [A/G] rs13113067 4 72739098 [T/G] rs10022720 4 72743549 [T/C] rs16847200 4 72751686 [A/G] rs4694441 4 72757529 [A/G] rs16847219 4 72779309 [A/G] rs1520499 4 72791849 [T/C] rs7668997 4 72792132 [T/G] rs10035034 4 72792667 [T/C] rs17774208 4 72801285 [T/G] rs2139639 4 72806951 [A/G] rs6446772 4 72811523 [T/C] rs11726886 4 72822599 [A/C] exm2265718 4 72835953 [A/G] rs7683913 4 72845549 [A/G] rs6827969 4 72873693 [T/G] rs28737202 4 72873814 [A/G] rs7699080 4 72885899 [T/C] exm405087 4 72897723 [C/G] NM_004885 NPFFR2 EXON Missense_S35R exm405089 4 72897770 [A/G] NM_004885 NPFFR2 EXON Missense_S51N exm405090 4 72897793 [T/C] NM_004885 NPFFR2 EXON Missense_R59C exm405095 4 72897832 [T/C] NM_004885 NPFFR2 EXON Missense_W72R exm405096 4 72897836 [A/G] NM_004885 NPFFR2 EXON Missense_S73N exm405097 4 72897848 [T/A] NM_004885 NPFFR2 EXON Missense_D77V exm405099 4 72897899 [A/G] NM_004885 NPFFR2 EXON Missense_D94G rs12512773 4 72905089 [A/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Silent,Silent,Silent rs7675387 4 72921718 [T/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 Silent,Silent,Silent rs7678974 4 72927226 [A/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 Silent,Silent,Silent rs4296652 4 72938462 [T/C] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 Silent,Silent,Silent rs7674293 4 72947764 [A/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 Silent,Silent,Silent rs10034862 4 72993872 [A/C] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 Silent,Silent,Silent newrs142617960 4 72994337 [A/C] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Nonsense_S112X,Nonsense_S10X,Nonsense_S13X exm405111 4 72994416 [G/C] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_N138K,Missense_N36K,Missense_N39K exm405112 4 72994486 [A/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_M162V,Missense_M60V,Missense_M63V exm405113 4 72994522 [A/T] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_R174W,Missense_R72W,Missense_R75W exm405114 4 72994525 [A/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_N175D,Missense_N73D,Missense_N76D indel.81383 4 72994532 [I/D] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON exm2274020 4 72994603 [A/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_M201V,Missense_M99V,Missense_M102V rs9790741 4 73000885 [T/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 Silent,Silent,Silent newrs138772964 4 73003756 [A/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 Silent,Silent,Silent exm405124 4 73003816 [A/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_A232T,Missense_A130T,Missense_A133T exm405126 4 73003835 [T/C] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_L238S,Missense_L136S,Missense_L139S exm405127 4 73012709 [T/C] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_V250A,Missense_V148A,Missense_V151A exm405131 4 73012817 [T/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_V286G,Missense_V184G,Missense_V187G variant.81385 4 73012895 [A/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Nonsense_W312X,Nonsense_W210X,Nonsense_W213X exm405135 4 73012917 [T/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_K319N,Missense_K217N,Missense_K220N exm405137 4 73012928 [T/C] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_T323I,Missense_T221I,Missense_T224I exm405139 4 73012954 [C/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_A332P,Missense_A230P,Missense_A233P indel.81386 4 73013008 [I/D] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON exm405147 4 73013165 [T/C] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_A402V,Missense_A300V,Missense_A303V exm405148 4 73013168 [A/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_D403G,Missense_D301G,Missense_D304G exm405152 4 73013202 [C/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_I414M,Missense_I312M,Missense_I315M exm405153 4 73013207 [T/C] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_I416T,Missense_I314T,Missense_I317T exm405160 4 73013344 [A/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_M462V,Missense_M360V,Missense_M363V exm405162 4 73013366 [T/C] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_A469V,Missense_A367V,Missense_A370V exm405163 4 73013389 [A/T] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_T477S,Missense_T375S,Missense_T378S exm405168 4 73013509 [A/G] NM_004885,NM_053036,NM_001144756 NPFFR2,NPFFR2,NPFFR2 EXON Missense_T517A,Missense_T415A,Missense_T418A rs4367144 4 73023727 [T/G] rs1513895 4 73061027 [T/C] rs957045 4 73075994 [A/C] rs7662481 4 73088582 [A/G] rs10029245 4 73091934 [T/C] rs970649 4 73096168 [A/C] rs10938012 4 73096392 [A/G] rs16847697 4 73106712 [A/G] rs16847703 4 73108169 [A/G] rs1554017 4 73117353 [A/G] rs6446825 4 73139890 [T/C] rs1369095 4 73144182 [T/C] rs9994557 4 73146274 [A/G] exm405172 4 73148885 [A/G] NM_014243 ADAMTS3 EXON Missense_R1196C exm405175 4 73149028 [A/G] NM_014243 ADAMTS3 EXON Missense_P1148L exm405177 4 73149047 [T/C] NM_014243 ADAMTS3 EXON Missense_V1142M exm405179 4 73149106 [T/C] NM_014243 ADAMTS3 EXON Missense_S1122N exm405180 4 73149182 [A/G] NM_014243 ADAMTS3 EXON Missense_P1097S exm405181 4 73149251 [A/G] NM_014243 ADAMTS3 EXON Missense_S1074P exm405186 4 73149358 [A/G] NM_014243 ADAMTS3 EXON Missense_S1038F exm405197 4 73156675 [T/C] NM_014243 ADAMTS3 EXON Missense_R943H exm405198 4 73156678 [T/C] NM_014243 ADAMTS3 EXON Missense_N942S exm405200 4 73156723 [T/C] NM_014243 ADAMTS3 EXON Missense_Q927R exm405211 4 73169666 [T/C] NM_014243 ADAMTS3 EXON Missense_D798N exm405222 4 73171772 [A/G] NM_014243 ADAMTS3 EXON Missense_M731T newrs146827790 4 73178008 [A/G] NM_014243 ADAMTS3 EXON Missense_P641S exm405240 4 73178175 [T/C] NM_014243 ADAMTS3 EXON Missense_N585S exm405243 4 73179424 [T/C] NM_014243 ADAMTS3 EXON Missense_R572H exm2275751 4 73179425 [A/G] NM_014243 ADAMTS3 EXON Missense_R572C exm405247 4 73179445 [T/C] NM_014243 ADAMTS3 EXON Missense_R565Q exm405255 4 73181637 [T/G] NM_014243 ADAMTS3 EXON Missense_P513T exm405257 4 73181656 [T/C] NM_014243 ADAMTS3 EXON Nonsense_W506X newrs150704470 4 73184295 [T/G] NM_014243 ADAMTS3 EXON Nonsense_C493X exm405271 4 73185600 [T/C] NM_014243 ADAMTS3 EXON Missense_V395I exm405272 4 73185663 [T/C] NM_014243 ADAMTS3 EXON Missense_G374S exm2256709 4 73186462 [C/G] NM_014243 ADAMTS3 EXON Synonymous_T357T exm405281 4 73186526 [A/G] NM_014243 ADAMTS3 EXON Missense_A336V exm405285 4 73188784 [T/C] NM_014243 ADAMTS3 EXON Missense_G298R variant.81395 4 73188816 [T/C] NM_014243 ADAMTS3 Silent rs1897814 4 73195704 [T/C] NM_014243 ADAMTS3 Silent exm405290 4 73205243 [T/C] NM_014243 ADAMTS3 EXON Missense_V277I rs1369093 4 73245191 [T/C] NM_014243 ADAMTS3 Silent exm2078565 4 73280538 [A/G] NM_014243 ADAMTS3 EXON Missense_Y219H exm405299 4 73280556 [T/C] NM_014243 ADAMTS3 EXON Missense_M213V exm405301 4 73280583 [A/C] NM_014243 ADAMTS3 EXON Missense_S204A rs922739 4 73284282 [A/G] NM_014243 ADAMTS3 Silent rs11727604 4 73295961 [T/C] NM_014243 ADAMTS3 Silent rs17725271 4 73333387 [T/C] NM_014243 ADAMTS3 Silent rs1383930 4 73334051 [T/G] NM_014243 ADAMTS3 Silent rs6823875 4 73335098 [A/C] NM_014243 ADAMTS3 Silent rs11730719 4 73363929 [T/C] NM_014243 ADAMTS3 Silent rs788927 4 73364994 [A/C] NM_014243 ADAMTS3 Silent rs6446834 4 73404916 [T/C] NM_014243 ADAMTS3 Silent rs788911 4 73413223 [T/G] NM_014243 ADAMTS3 Silent exm405308 4 73414286 [T/C] NM_014243 ADAMTS3 EXON Missense_R138K exm405309 4 73414289 [T/C] NM_014243 ADAMTS3 EXON Missense_R137Q exm405316 4 73414406 [T/C] NM_014243 ADAMTS3 EXON Missense_N98S exm405320 4 73414482 [T/C] NM_014243 ADAMTS3 EXON Missense_V73M rs12645174 4 73431464 [T/C] NM_014243 ADAMTS3 Silent exm405329 4 73433114 [A/C] NM_014243 ADAMTS3 EXON Missense_G25V rs1518492 4 73433875 [A/G] NM_014243 ADAMTS3 Silent rs4694494 4 73445607 [A/G] rs719382 4 73454114 [T/C] rs13104467 4 73455382 [T/C] rs6831742 4 73458049 [A/G] rs16848243 4 73458117 [T/C] exm2269774 4 73470972 [T/C] exm2269933 4 73472941 [T/C] rs1401144 4 73506817 [A/G] exm-rs7697556 4 73515313 [T/C] rs12644269 4 73518909 [T/C] rs9784530 4 73527617 [T/C] rs16848464 4 73529400 [A/G] rs2086471 4 73543031 [A/G] rs10518108 4 73575548 [A/G] rs986397 4 73578725 [A/G] rs9291178 4 73586055 [T/C] rs1481108 4 73609026 [T/C] rs316431 4 73614025 [T/C] rs4694517 4 73617478 [T/C] rs4694519 4 73618256 [A/C] rs2366447 4 73633046 [T/C] rs316438 4 73640679 [A/G] rs316440 4 73640771 [A/G] rs316424 4 73651309 [A/G] exm2265719 4 73657570 [A/G] rs316452 4 73657570 [A/G] rs1381252 4 73673070 [A/C] rs4146484 4 73680605 [T/C] rs4694548 4 73681946 [A/G] rs4694549 4 73683824 [T/C] rs315337 4 73694511 [T/C] rs2126207 4 73711378 [T/C] rs6822170 4 73722977 [T/C] rs186403 4 73740674 [T/C] rs9291180 4 73757679 [A/G] rs7698530 4 73759117 [A/G] rs6814202 4 73781518 [A/C] rs11941162 4 73784340 [A/G] rs6840693 4 73796573 [T/C] rs1895855 4 73799039 [A/G] rs7688718 4 73803268 [A/C] rs1381015 4 73812806 [A/C] rs13102676 4 73821904 [T/G] rs2045680 4 73843550 [T/C] rs16849052 4 73851964 [T/C] rs961873 4 73854191 [T/C] rs7666763 4 73858464 [T/C] rs1381014 4 73862030 [A/C] rs7675007 4 73862194 [T/C] rs7675027 4 73862220 [T/C] exm405340 4 73923916 [T/C] NM_173827 COX18 EXON Missense_R306Q exm405342 4 73924001 [T/C] NM_173827 COX18 EXON Missense_I278V exm405346 4 73927540 [A/G] NM_173827 COX18 EXON Missense_T273M exm405347 4 73927550 [T/C] NM_173827 COX18 EXON Missense_I270V exm405348 4 73927571 [T/C] NM_173827 COX18 EXON Missense_M263V exm405350 4 73927577 [A/G] NM_173827 COX18 EXON Missense_R261C exm2256713 4 73927596 [T/C] NM_173827 COX18 EXON Synonymous_T254T indel.81398 4 73927619 [I/D] NM_173827 COX18 EXON exm405357 4 73930495 [T/C] NM_173827 COX18 EXON Synonymous_E240E indel.81400 4 73930604 [I/D] NM_173827 COX18 EXON rs2306057 4 73931170 [T/C] NM_173827 COX18 Silent exm405385 4 73935320 [A/G] NM_173827 COX18 EXON Missense_L16P exm405386 4 73935357 [A/G] NM_173827 COX18 EXON Missense_R4W rs10092 4 73940743 [A/G] NM_032217,NM_198889 ANKRD17,ANKRD17 EXON Silent,Silent exm405389 4 73941995 [G/C] NM_032217,NM_198889 ANKRD17,ANKRD17 EXON Missense_P2589A,Missense_P2338A exm405398 4 73943154 [T/C] NM_032217,NM_198889 ANKRD17,ANKRD17 EXON Missense_R2502Q,Missense_R2251Q exm405413 4 73951068 [T/C] NM_032217,NM_198889 ANKRD17,ANKRD17 EXON Missense_G2353R,Missense_G2102R exm405417 4 73956507 [T/G] NM_032217,NM_198889 ANKRD17,ANKRD17 EXON Missense_P2280T,Missense_P2029T exm405435 4 73957010 [A/G] NM_032217,NM_198889 ANKRD17,ANKRD17 EXON Missense_P2112L,Missense_P1861L exm405437 4 73957072 [T/A] NM_032217,NM_198889 ANKRD17,ANKRD17 EXON Missense_R2091S,Missense_R1840S exm405463 4 73962889 [G/C] NM_032217,NM_198889 ANKRD17,ANKRD17 EXON Missense_A1708P,Missense_A1457P variant.81404 4 73987444 [A/G] NM_032217,NM_198889 ANKRD17,ANKRD17 EXON Synonymous_N1175N,Synonymous_N924N exm405498 4 73987473 [T/C] NM_032217,NM_198889 ANKRD17,ANKRD17 EXON Missense_V1166M,Missense_V915M rs10050235 4 73988492 [A/G] NM_032217,NM_198889 ANKRD17,ANKRD17 Silent,Silent exm405525 4 74005598 [A/G] NM_032217,NM_198889 ANKRD17,ANKRD17 EXON Missense_L912P,Silent rs11939939 4 74010834 [A/G] NM_032217,NM_198889 ANKRD17,ANKRD17 Silent,Silent exm2256714 4 74019763 [A/G] NM_032217,NM_198889 ANKRD17,ANKRD17 EXON Synonymous_S356S,Synonymous_S356S kgp4777524 4 74031095 [T/G] NM_032217,NM_198889 ANKRD17,ANKRD17 Silent,Silent rs5020219 4 74036166 [T/C] NM_032217,NM_198889 ANKRD17,ANKRD17 Silent,Silent exm405574 4 74124054 [A/G] NM_032217,NM_198889 ANKRD17,ANKRD17 EXON Missense_T111I,Missense_T111I rs6853164 4 74151780 [A/G] kgp8706293 4 74173715 [T/C] rs7688274 4 74268658 [A/G] exm405597 4 74270111 [T/C] NM_000477 ALB EXON Missense_R23C exm405598 4 74270123 [T/C] NM_000477 ALB EXON Missense_H27Y newrs77408163 4 74270124 [A/G] NM_000477 ALB Silent exm405606 4 74274363 [A/G] NM_000477 ALB EXON Missense_Y108C newrs77238412 4 74274452 [T/C] NM_000477 ALB EXON Nonsense_R138X exm405608 4 74274452 [T/C] NM_000477 ALB EXON Nonsense_R138X exm405616 4 74275120 [A/T] NM_000477 ALB EXON Missense_E177D kgp581293 4 74275127 [T/C] NM_000477 ALB EXON Missense_F180L variant.81412 4 74275158 [T/C] NM_000477 ALB EXON Missense_T190I exm405620 4 74275172 [A/G] NM_000477 ALB EXON Missense_A195T exm405632 4 74277724 [A/G] NM_000477 ALB EXON Missense_R242H exm405633 4 74277744 [A/C] NM_000477 ALB EXON Missense_K249Q rs10022167 4 74278809 [A/G] NM_000477 ALB Silent indel.81414 4 74279193 [D/I] NM_000477 ALB EXON exm405646 4 74279351 [T/C] NM_000477 ALB EXON Missense_M353T rs2051512 4 74279549 [T/C] NM_000477 ALB Silent exm405649 4 74280852 [T/G] NM_000477 ALB EXON Missense_A387S exm405651 4 74281976 [A/G] NM_000477 ALB EXON Missense_D399N variant.81417 4 74282070 [T/C] NM_000477 ALB EXON Missense_A430V exm2078738 4 74283902 [A/G] NM_000477 ALB EXON Missense_R509Q newrs75920790 4 74283928 [A/G] NM_000477 ALB EXON Missense_D518N kgp29078387 4 74283984 [T/C] NM_000477 ALB EXON Synonymous_D536D newrs149079814 4 74284028 [T/C] NM_000477 ALB EXON Missense_T551I rs7678298 4 74284428 [T/C] NM_000477 ALB Silent exm2269775 4 74285239 [T/C] NM_000477 ALB EXON Synonymous_L556L exm405679 4 74285240 [A/G] NM_000477 ALB EXON Missense_V557M exm405682 4 74285292 [A/G] NM_000477 ALB EXON Missense_D574G exm405683 4 74285297 [A/G] NM_000477 ALB EXON Missense_A576T kgp11305995 4 74286873 [T/G] NM_000477 ALB EXON Silent rs16849364 4 74292407 [A/G] exm405694 4 74302064 [A/G] NM_001134 AFP EXON Missense_A29T rs16849384 4 74302870 [T/C] NM_001134 AFP Silent rs4640638 4 74303200 [A/G] NM_001134 AFP Silent variant.81421 4 74303997 [T/C] NM_001134 AFP EXON Nonsense_Q82X variant.81422 4 74304023 [A/G] NM_001134 AFP EXON Synonymous_Q90Q indel.81423 4 74306350 [I/D] NM_001134 AFP EXON exm405704 4 74306373 [C/G] NM_001134 AFP EXON Missense_G109R exm405717 4 74308089 [A/C] NM_001134 AFP EXON Missense_K187Q exm405725 4 74309160 [A/C] NM_001134 AFP EXON Missense_I238L exm405727 4 74310754 [C/G] NM_001134 AFP EXON Missense_T253S exm405728 4 74310768 [C/G] NM_001134 AFP EXON Missense_L258V exm405729 4 74310793 [A/G] NM_001134 AFP EXON Missense_H266R rs2298839 4 74310844 [A/G] NM_001134 AFP Silent exm405735 4 74313216 [T/C] NM_001134 AFP EXON Missense_T294I exm2078762 4 74315060 [A/G] NM_001134 AFP EXON Missense_H356R variant.81426 4 74315801 [T/C] NM_001134 AFP EXON Nonsense_R414X var_4_74315809 4 74315809 [A/C] NM_001134 AFP EXON Nonsense_C416X variant.81428 4 74315850 [T/C] NM_001134 AFP EXON Missense_A430V indel.81429 4 74316357 [D/I] NM_001134 AFP EXON exm405758 4 74316394 [T/C] NM_001134 AFP EXON Missense_T451I exm405778 4 74318260 [T/C] NM_001134 AFP EXON Missense_P524L exm405785 4 74318329 [T/C] NM_001134 AFP EXON Missense_T547I newrs191300110 4 74318340 [T/G] NM_001134 AFP EXON Nonsense_E551X exm405789 4 74319538 [G/C] NM_001134 AFP EXON Missense_A570G exm405794 4 74320984 [A/C] NM_001134 AFP EXON Missense_A606D exm405795 4 74320989 [A/G] NM_001134 AFP EXON Missense_G608R exm405796 4 74321009 [T/C] NM_001134 AFP Silent rs7656821 4 74346234 [A/G] exm405800 4 74347532 [T/G] NM_001133 AFM EXON Missense_F14V variant.81435 4 74350109 [T/C] NM_001133 AFM Silent variant.81436 4 74351591 [T/C] NM_001133 AFM EXON Nonsense_Q95X exm405809 4 74351593 [T/G] NM_001133 AFM EXON Missense_Q95H indel.81438 4 74351717 [D/I] NM_001133 AFM EXON exm405816 4 74351777 [A/T] NM_001133 AFM EXON Missense_S157T exm405825 4 74352799 [T/A] NM_001133 AFM EXON Missense_N200Y exm405826 4 74352800 [A/T] NM_001133 AFM EXON Missense_N200I variant.81439 4 74352816 [A/G] NM_001133 AFM EXON Synonymous_R205R variant.81440 4 74352821 [A/G] NM_001133 AFM Silent exm405827 4 74353456 [A/C] NM_001133 AFM EXON Missense_Q211K exm405831 4 74353539 [T/G] NM_001133 AFM Silent exm405834 4 74354406 [T/C] NM_001133 AFM EXON Missense_L258P exm405841 4 74354474 [A/T] NM_001133 AFM EXON Missense_T281S exm405844 4 74357772 [T/C] NM_001133 AFM EXON Nonsense_R343X exm2078812 4 74357800 [A/C] NM_001133 AFM EXON Missense_A352E rs11733262 4 74357851 [A/G] NM_001133 AFM Silent rs12510870 4 74358277 [T/C] NM_001133 AFM Silent exm405850 4 74361028 [A/G] NM_001133 AFM EXON Missense_E357G exm405851 4 74361036 [A/G] NM_001133 AFM EXON Missense_R360G exm405855 4 74361142 [A/G] NM_001133 AFM EXON Missense_R395H var_4_74361149 4 74361149 [A/G] NM_001133 AFM EXON Synonymous_A397A exm405858 4 74363387 [T/A] NM_001133 AFM EXON Missense_T404S exm2274021 4 74364905 [T/A] NM_001133 AFM EXON Missense_V455E newrs147051358 4 74365763 [T/C] NM_001133 AFM EXON Nonsense_R489X exm405868 4 74365790 [A/T] NM_001133 AFM EXON Missense_C498S indel.81448 4 74365805 [I/D] NM_001133 AFM EXON indel.81449 4 74365814 [I/D] NM_001133 AFM EXON indel.81450 4 74365901 [I/D] NM_001133 AFM EXON rs4574378 4 74402790 [T/G] rs9996759 4 74413975 [T/C] rs10000698 4 74415939 [A/C] rs2367154 4 74428908 [T/G] rs17838981 4 74440552 [A/G] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Silent,Silent,Silent,Silent exm405879 4 74442010 [A/G] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_A285V,Missense_A307V,Missense_A351V,Missense_A319V exm405882 4 74442178 [A/C] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_L262R,Missense_L284R,Missense_L328R,Missense_L296R exm2275753 4 74442186 [A/T] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_E259D,Missense_E281D,Missense_E325D,Missense_E293D exm405885 4 74442349 [C/G] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_A240G,Missense_A262G,Missense_A306G,Missense_A274G exm405888 4 74442373 [A/C] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_R232L,Missense_R254L,Missense_R298L,Missense_R266L exm2274022 4 74442424 [A/T] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_D215V,Missense_D237V,Missense_D281V,Missense_D249V variant.81452 4 74442440 [A/G] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Nonsense_R210X,Nonsense_R232X,Nonsense_R276X,Nonsense_R244X newrs147074403 4 74447533 [T/C] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 Silent,Silent,Silent,Silent exm405900 4 74447572 [A/G] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_P194L,Missense_P216L,Missense_P260L,Missense_P228L exm405901 4 74447930 [T/C] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Silent,Missense_I203M,Missense_I247M,Missense_I215M exm405907 4 74451031 [A/G] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_P145S,Missense_P133S,Missense_P177S,Missense_P145S exm405908 4 74451073 [A/G] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_S131P,Missense_S119P,Missense_S163P,Missense_S131P variant.81454 4 74451082 [T/C] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 Silent,Silent,Silent,Silent rs1528916 4 74452469 [A/C] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 Silent,Silent,Silent,Silent exm405911 4 74453616 [T/C] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_R108H,Missense_R96H,Missense_R140H,Missense_R108H exm405912 4 74453617 [A/G] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_R108C,Missense_R96C,Missense_R140C,Missense_R108C exm405915 4 74453632 [A/G] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_F103L,Missense_F91L,Missense_F135L,Missense_F103L exm405916 4 74453634 [A/T] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_E102V,Missense_E90V,Missense_E134V,Missense_E102V exm405917 4 74453635 [T/C] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_E102K,Missense_E90K,Missense_E134K,Missense_E102K rs10009048 4 74453782 [A/G] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 Silent,Silent,Silent,Silent exm405923 4 74459184 [T/C] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_V91I,Missense_V79I,Missense_V123I,Missense_V91I exm405924 4 74459210 [T/G] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_S82Y,Missense_S70Y,Missense_S114Y,Missense_S82Y variant.81457 4 74459264 [T/C] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Nonsense_W64X,Nonsense_W52X,Nonsense_W96X,Nonsense_W64X exm405929 4 74459311 [T/C] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 Silent,Silent,Silent,Silent exm405931 4 74464386 [T/G] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_Q39K,Silent,Missense_Q71K,Missense_Q39K rs6827519 4 74466409 [A/G] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 Silent,Silent,Silent,Silent exm405936 4 74477489 [T/G] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Nonsense_Y8X,Silent,Nonsense_Y40X,Nonsense_Y8X variant.81459 4 74477489 [T/G] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Nonsense_Y8X,Silent,Nonsense_Y40X,Nonsense_Y8X exm405938 4 74477505 [A/G] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Missense_M3T,Silent,Missense_M35T,Missense_M3T exm405941 4 74477529 [A/G] NM_001270391,NM_001270392,NM_201431,NM_177532 RASSF6,RASSF6,RASSF6,RASSF6 EXON Silent,Silent,Missense_L27P,Silent rs7655717 4 74504614 [A/C] rs1247574 4 74521045 [T/C] rs4694627 4 74525356 [T/C] rs6855668 4 74528627 [T/C] rs2091588 4 74534437 [T/C] rs1358594 4 74555477 [T/G] rs12108656 4 74588938 [T/C] rs2227538 4 74606375 [T/C] NM_000584 IL8 EXON Silent exm405956 4 74607285 [T/G] NM_000584 IL8 EXON Nonsense_E31X exm405961 4 74607328 [A/G] NM_000584 IL8 EXON Missense_H45R rs1951242 4 74617282 [T/C] rs1951699 4 74618909 [T/C] rs9999446 4 74628455 [A/G] rs1951235 4 74667727 [T/C] rs6446964 4 74678093 [A/G] rs6851997 4 74679286 [A/G] variant.81464 4 74702680 [A/G] NM_002993 CXCL6 Silent variant.81466 4 74702918 [A/G] NM_002993 CXCL6 Silent exm405990 4 74702951 [C/G] NM_002993 CXCL6 EXON Missense_L92V rs941758 4 74718941 [A/C] exm2264095 4 74718941 [A/C] exm406006 4 74719089 [T/G] NM_002620 PF4V1 EXON Missense_A4S exm2256720 4 74719519 [A/G] NM_002620 PF4V1 EXON Synonymous_G40G exm406017 4 74719604 [T/C] NM_002620 PF4V1 EXON Missense_H69Y exm406023 4 74719783 [T/A] NM_002620 PF4V1 EXON Missense_L87M rs7695276 4 74724385 [T/C] rs3117598 4 74731278 [T/G] indel.81468 4 74735630 [I/D] NR_046035,NM_001511 CXCL1,CXCL1 EXON rs1429638 4 74737930 [A/C] rs6816849 4 74748325 [A/G] rs10518117 4 74750051 [A/G] rs516224 4 74750147 [A/G] rs509958 4 74762278 [A/G] rs482239 4 74762971 [T/C] rs629315 4 74776218 [T/C] rs13122604 4 74785503 [T/C] rs164754 4 74796191 [T/C] rs4694656 4 74811199 [A/G] rs352011 4 74811802 [A/G] rs9996748 4 74833787 [A/G] rs4694180 4 74837402 [T/C] indel.81469 4 74847000 [I/D] NM_002619 PF4 EXON exm2078920 4 74847598 [T/C] NM_002619 PF4 EXON Missense_V25M var_4_74853229 4 74853229 [T/C] NM_002704 PPBP Silent exm406078 4 74853684 [A/G] NM_002704 PPBP EXON Missense_A46V exm2078928 4 74853703 [C/G] NM_002704 PPBP EXON Missense_Q40E rs352010 4 74855231 [A/G] rs2472649 4 74857708 [A/G] variant.81472 4 74863724 [A/G] NM_002994 CXCL5 Silent exm406090 4 74863730 [G/C] NM_002994 CXCL5 EXON Missense_G109R variant.81473 4 74863813 [A/C] NM_002994 CXCL5 Silent rs6840660 4 74887033 [T/C] exm2269776 4 74903134 [T/C] NM_002090 CXCL3 Silent variant.81474 4 74903809 [T/C] NM_002090 CXCL3 Silent indel.81476 4 74904034 [D/I] NM_002090 CXCL3 EXON rs352042 4 74909180 [T/C] rs10019219 4 74915427 [T/G] exm-rs546829 4 74956372 [A/T] rs1837559 4 74959093 [A/G] rs9131 4 74963049 [T/C] NM_002089 CXCL2 EXON Silent exm406132 4 74964625 [T/C] NM_002089 CXCL2 EXON Missense_T39A exm-rs1371799 4 74977837 [T/C] rs479117 4 75025369 [A/C] NM_001144978 MTHFD2L Silent rs977598 4 75037867 [T/G] NM_001144978 MTHFD2L Silent variant.81479 4 75040243 [A/C] NM_001144978 MTHFD2L EXON Nonsense_S55X exm406150 4 75040404 [A/G] NM_001144978 MTHFD2L EXON Missense_V109I variant.81481 4 75040412 [A/G] NM_001144978 MTHFD2L Silent exm2265846 4 75052592 [A/G] NM_001144978 MTHFD2L Silent rs11947475 4 75053005 [A/G] NM_001144978 MTHFD2L Silent rs564793 4 75054234 [T/C] NM_001144978 MTHFD2L Silent variant.81482 4 75065525 [T/C] NM_001144978 MTHFD2L EXON Nonsense_R156X exm406163 4 75065541 [A/G] NM_001144978 MTHFD2L EXON Missense_G161E exm406170 4 75065622 [T/C] NM_001144978 MTHFD2L EXON Missense_P188L variant.81483 4 75065644 [A/G] NM_001144978 MTHFD2L EXON Nonsense_W195X indel.81484 4 75067047 [I/D] NM_001144978 MTHFD2L EXON exm406178 4 75067064 [A/C] NM_001144978 MTHFD2L EXON Missense_D230A variant.81485 4 75067089 [T/C] NM_001144978 MTHFD2L Silent rs579866 4 75082112 [T/C] NM_001144978 MTHFD2L Silent exm406180 4 75091018 [C/G] NM_001144978 MTHFD2L Silent exm406182 4 75091063 [T/C] NM_001144978 MTHFD2L EXON Nonsense_Q253X rs1265327 4 75095061 [A/C] NM_001144978 MTHFD2L Silent rs16850798 4 75132286 [A/G] NM_001144978 MTHFD2L Silent rs7665105 4 75132798 [T/C] NM_001144978 MTHFD2L Silent exm406185 4 75147160 [T/C] NM_001144978 MTHFD2L EXON Missense_T275M exm406187 4 75147198 [A/G] NM_001144978 MTHFD2L EXON Missense_V288M exm406189 4 75147228 [A/C] NM_001144978 MTHFD2L EXON Missense_T298P rs9684145 4 75152436 [A/G] NM_001144978 MTHFD2L Silent rs16850864 4 75160824 [T/C] NM_001144978 MTHFD2L Silent rs10011730 4 75168571 [T/C] NM_001144978 MTHFD2L EXON Silent rs16850885 4 75170140 [A/G] exm406198 4 75174292 [T/C] NR_073114,NM_001270989,NM_001270990,NM_001270993,NM_001270992,NR_073117,NM_001270991 EPGN,EPGN,EPGN,EPGN,EPGN,EPGN,EPGN EXON Silent,Synonymous_N14N,Synonymous_N14N,Synonymous_N14N,Synonymous_N14N,Silent,Synonymous_N14N variant.81488 4 75174899 [A/G] NR_073114,NM_001270989,NM_001270990,NM_001270993,NM_001270992,NR_073117,NM_001270991 EPGN,EPGN,EPGN,EPGN,EPGN,EPGN,EPGN EXON Silent,Missense_A45T,Missense_A45T,Silent,Missense_A45T,Silent,Silent exm406204 4 75177911 [T/C] NR_073114,NM_001270989,NM_001270990,NM_001270993,NM_001270992,NR_073117,NM_001270991 EPGN,EPGN,EPGN,EPGN,EPGN,EPGN,EPGN EXON Silent,Missense_I48T,Missense_I48T,Missense_I39T,Missense_I48T,Silent,Missense_I39T exm406214 4 75178782 [T/C] NR_073114,NM_001270989,NM_001270990,NM_001270993,NM_001270992,NR_073117,NM_001270991 EPGN,EPGN,EPGN,EPGN,EPGN,EPGN,EPGN EXON Silent,Missense_T101I,Silent,Silent,Silent,Silent,Silent exm406218 4 75178877 [A/G] NR_073114,NM_001270989,NM_001270990,NM_001270993,NM_001270992,NR_073117,NM_001270991 EPGN,EPGN,EPGN,EPGN,EPGN,EPGN,EPGN EXON Silent,Missense_I133V,Silent,Silent,Silent,Silent,Silent rs715844 4 75186254 [T/C] rs16850959 4 75199609 [A/G] exm2269777 4 75202049 [T/C] rs17282228 4 75202277 [T/G] rs12512256 4 75205133 [T/C] rs10938119 4 75206039 [A/G] rs2125398 4 75208519 [T/G] rs16851016 4 75216675 [A/G] rs7674887 4 75217978 [T/G] rs1350666 4 75224590 [T/C] exm-rs1350666 4 75224590 [T/C] rs10518126 4 75243119 [T/C] NM_001432 EREG Silent variant.81491 4 75245179 [T/C] NM_001432 EREG EXON Nonsense_Q28X exm406235 4 75246762 [A/T] NM_001432 EREG EXON Missense_Q62H exm406242 4 75248373 [A/G] NM_001432 EREG EXON Missense_G97D variant.81493 4 75250454 [T/C] NM_001432 EREG EXON Nonsense_R147X exm406251 4 75250455 [A/G] NM_001432 EREG EXON Missense_R147Q rs1017733 4 75252350 [T/C] NM_001432 EREG EXON Silent rs10002688 4 75261407 [A/G] rs16851150 4 75266446 [T/C] rs2047193 4 75268730 [T/C] rs718607 4 75276524 [A/G] rs1691274 4 75324290 [T/C] rs11725706 4 75328108 [A/G] rs1353295 4 75329122 [A/G] rs1246415 4 75336464 [T/C] rs7668817 4 75344134 [T/C] rs6828372 4 75377395 [T/C] rs1994941 4 75400315 [T/C] rs10001945 4 75406050 [T/G] rs6447006 4 75409327 [A/G] kgp11706351 4 75410911 [A/G] rs62314947 4 75502487 [T/C] rs9307637 4 75510963 [T/C] rs10029098 4 75515889 [A/C] rs7435213 4 75526108 [T/C] rs11097585 4 75528603 [A/G] rs7437891 4 75529098 [A/G] rs11097821 4 75534357 [A/C] rs11099492 4 75575898 [A/G] rs6836453 4 75589514 [A/G] rs7663639 4 75599687 [A/G] rs11930214 4 75605512 [T/C] rs11097027 4 75608390 [A/C] rs6848228 4 75619533 [T/C] rs6849245 4 75622361 [A/G] rs4412061 4 75632076 [T/C] rs4859540 4 75639740 [T/G] rs7686112 4 75654169 [T/C] rs11736577 4 75661832 [A/G] rs11727548 4 75670619 [T/C] exm2241269 4 75673298 [T/C] NM_001729 BTC EXON Missense_D164N exm406288 4 75673342 [T/C] NM_001729 BTC EXON Missense_R149H exm406289 4 75673351 [T/C] NM_001729 BTC EXON Missense_R146Q rs4585380 4 75673363 [A/G] NM_001729 BTC Silent exm406292 4 75675799 [A/C] NM_001729 BTC EXON Missense_V138F exm406294 4 75675814 [T/C] NM_001729 BTC EXON Missense_I133V exm406295 4 75675841 [T/A] NM_001729 BTC EXON Missense_L124M exm406301 4 75675924 [T/C] NM_001729 BTC EXON Missense_D96G exm406305 4 75681081 [A/G] NM_001729 BTC EXON Missense_T90M exm406311 4 75681135 [T/G] NM_001729 BTC EXON Missense_Q72P exm2265720 4 75681217 [A/G] NM_001729 BTC Silent rs9307118 4 75682484 [A/G] NM_001729 BTC Silent rs6843005 4 75684474 [A/G] NM_001729 BTC Silent rs10009801 4 75694208 [T/C] NM_001729 BTC Silent exm406316 4 75695286 [A/G] NM_001729 BTC EXON Missense_P49S exm406317 4 75695301 [A/G] NM_001729 BTC EXON Missense_L44F exm406318 4 75695345 [A/G] NM_001729 BTC EXON Missense_V29A rs1377032 4 75712104 [T/C] NM_001729 BTC Silent rs977266 4 75717601 [T/C] NM_001729 BTC Silent rs1349634 4 75718547 [T/C] NM_001729 BTC Silent rs984991 4 75736541 [A/G] rs6827871 4 75745515 [A/C] rs896577 4 75748121 [A/C] rs6837250 4 75771799 [A/G] rs2167636 4 75777710 [A/G] kgp9108117 4 75784381 [A/G] kgp2254313 4 75784474 [T/C] rs3886161 4 75845127 [A/G] rs1452303 4 75845559 [T/G] exm2079031 4 75858580 [T/G] NM_015393 PARM1 EXON Nonsense_G15X rs17248859 4 75860438 [T/C] NM_015393 PARM1 Silent kgp3014331 4 75863477 [A/G] NM_015393 PARM1 Silent rs11098369 4 75929358 [T/C] NM_015393 PARM1 Silent exm406336 4 75937800 [T/C] NM_015393 PARM1 EXON Missense_A70V exm406340 4 75937886 [A/G] NM_015393 PARM1 EXON Missense_G99S exm406344 4 75937914 [G/C] NM_015393 PARM1 EXON Missense_G108A exm406350 4 75938015 [A/G] NM_015393 PARM1 EXON Missense_A142T exm406353 4 75938108 [A/G] NM_015393 PARM1 EXON Missense_V173I exm406358 4 75938178 [T/C] NM_015393 PARM1 EXON Missense_P196L rs1062293 4 75938236 [A/G] NM_015393 PARM1 EXON Synonymous_V215V rs6824037 4 75942134 [T/C] NM_015393 PARM1 Silent rs17000093 4 75944130 [A/G] NM_015393 PARM1 Silent exm406374 4 75971374 [T/C] NM_015393 PARM1 EXON Missense_H284Y exm406377 4 75971432 [A/G] NM_015393 PARM1 EXON Missense_N303S rs9090 4 75972413 [T/C] NM_015393 PARM1 EXON Silent rs10015446 4 75972812 [A/G] NM_015393 PARM1 EXON Silent rs1043633 4 75973830 [T/C] NM_015393 PARM1 EXON Silent rs1061570 4 75974353 [A/G] NM_015393 PARM1 EXON Silent rs11944489 4 75980925 [T/C] rs17000192 4 75992533 [A/G] exm-rs1365162 4 75993726 [A/G] rs1426064 4 75996025 [T/C] rs17000203 4 75998962 [T/C] rs6837969 4 76010215 [A/G] rs4859943 4 76014897 [T/C] exm2265847 4 76031576 [A/G] rs6534608 4 76031652 [T/G] rs11942566 4 76049479 [T/C] rs6853754 4 76051855 [T/C] rs769325 4 76072424 [T/C] rs6534849 4 76075792 [T/C] rs7349670 4 76078680 [T/C] rs1391010 4 76081553 [T/C] rs6855222 4 76137551 [T/C] rs7677444 4 76139891 [A/G] rs7681167 4 76161222 [A/G] rs7691721 4 76164287 [T/C] rs10000494 4 76168631 [A/G] rs11099470 4 76181972 [A/G] rs11734596 4 76191643 [A/G] rs13147022 4 76193549 [A/G] rs10518137 4 76209646 [A/G] rs1497216 4 76210182 [T/C] rs6535270 4 76212995 [A/G] rs2131688 4 76235455 [T/C] rs1389441 4 76250849 [A/C] rs2008051 4 76252397 [A/G] exm2265721 4 76254408 [A/G] rs6813112 4 76263405 [T/C] rs1493716 4 76264496 [T/C] rs12501796 4 76270417 [A/C] rs7680886 4 76279001 [A/G] rs7667024 4 76281282 [T/G] NR_033964 LOC441025 Silent rs1493705 4 76284744 [T/G] NR_033964 LOC441025 Silent rs3853187 4 76291076 [T/C] rs2201331 4 76296421 [T/G] rs7674576 4 76299595 [T/G] rs6841628 4 76318507 [T/C] rs1026694 4 76321147 [A/C] rs7683530 4 76323522 [A/G] rs2903698 4 76332975 [A/G] rs6535429 4 76350536 [T/C] rs7677609 4 76352987 [A/G] rs1478174 4 76393189 [A/G] rs2126852 4 76406846 [T/C] NM_001008925,NM_015436,NR_037913,NR_037914,NM_001009922 RCHY1,RCHY1,RCHY1,RCHY1,RCHY1 EXON Silent,Silent,Silent,Silent,Silent exm406385 4 76415885 [T/C] NM_001008925,NM_015436,NR_037913,NR_037914,NM_001009922 RCHY1,RCHY1,RCHY1,RCHY1,RCHY1 EXON Synonymous_A187A,Missense_H188R,Silent,Silent,Missense_H179R rs13137105 4 76416387 [A/G] NM_001008925,NM_015436,NR_037913,NR_037914,NM_001009922 RCHY1,RCHY1,RCHY1,RCHY1,RCHY1 Silent,Silent,Silent,Silent,Silent rs10518139 4 76417401 [T/C] NM_001008925,NM_015436,NR_037913,NR_037914,NM_001009922 RCHY1,RCHY1,RCHY1,RCHY1,RCHY1 Silent,Silent,Silent,Silent,Silent newrs191212830 4 76419306 [T/C] NM_001008925,NM_015436,NR_037913,NR_037914,NM_001009922 RCHY1,RCHY1,RCHY1,RCHY1,RCHY1 Silent,Silent,Silent,Silent,Silent variant.81504 4 76440747 [A/G] NM_144721 THAP6 Silent exm406424 4 76442044 [A/G] NM_144721 THAP6 EXON Missense_N48S exm406427 4 76442052 [A/G] NM_144721 THAP6 EXON Missense_G51S indel.81505 4 76442064 [D/I] NM_144721 THAP6 EXON indel.81506 4 76442118 [D/I] NM_144721 THAP6 EXON exm2079075 4 76442163 [A/G] NM_144721 THAP6 EXON Missense_I88V rs17000603 4 76443568 [A/G] NM_144721 THAP6 Silent exm2079080 4 76447062 [G/C] NM_144721 THAP6 EXON Missense_Q135H exm406444 4 76452174 [A/C] NM_144721 THAP6 EXON Missense_H140P exm406445 4 76452176 [A/G] NM_144721 THAP6 EXON Missense_S141G exm406448 4 76452233 [A/G] NM_144721 THAP6 EXON Missense_G160S exm406453 4 76452302 [A/T] NM_144721 THAP6 EXON Missense_L183M exm2079084 4 76452357 [T/C] NM_144721 THAP6 EXON Missense_A201V exm2079085 4 76452375 [T/C] NM_144721 THAP6 EXON Missense_F207S rs2126854 4 76453149 [T/C] NM_144721 THAP6 EXON Silent rs11721925 4 76461012 [T/C] rs10857225 4 76464584 [A/C] rs17000620 4 76464991 [T/G] rs9998529 4 76475750 [A/C] rs2061742 4 76480880 [A/G] exm406459 4 76481300 [A/G] NR_046430,NM_178497,NM_001206981,NR_046429,NM_001257072 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Silent,Missense_R3H,Missense_R3H,Silent,Missense_R3H indel.81510 4 76481347 [D/I] NR_046430,NM_178497,NM_001206981,NR_046429,NM_001257072 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON rs17000647 4 76481730 [A/C] NR_046430,NM_178497,NM_001206981,NR_046429,NM_001257072 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 Silent,Silent,Silent,Silent,Silent rs2306175 4 76489345 [T/C] NR_046430,NM_178497,NM_001206981,NR_046429,NM_001257072 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Silent,Missense_P30L,Missense_L45F,Silent,Missense_P30L exm406464 4 76489345 [T/C] NR_046430,NM_178497,NM_001206981,NR_046429,NM_001257072 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Silent,Missense_P30L,Missense_L45F,Silent,Missense_P30L exm406465 4 76489374 [T/G] NR_046430,NM_178497,NM_001206981,NR_046429,NM_001257072 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Silent,Missense_A40S,Synonymous_T54T,Silent,Missense_A40S exm406466 4 76489380 [A/G] NR_046430,NM_178497,NM_001206981,NR_046429,NM_001257072 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Silent,Missense_D42N,Synonymous_P56P,Silent,Missense_D42N exm406470 4 76489464 [T/C] NR_046430,NM_178497,NM_001206981,NR_046429,NM_001257072 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Silent,Missense_C70R,Synonymous_G84G,Silent,Silent exm406475 4 76489533 [T/C] NR_046430,NM_178497,NM_001206981,NR_046429,NM_001257072 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Silent,Missense_S93P,Synonymous_L107L,Silent,Silent exm406476 4 76489550 [T/C] NR_046430,NM_178497,NM_001206981,NR_046429,NM_001257072 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Silent,Synonymous_R98R,Missense_V113A,Silent,Silent variant.81512 4 76489573 [A/G] NR_046430,NM_178497,NM_001206981,NR_046429,NM_001257072 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Silent,Nonsense_W106X,Missense_G121S,Silent,Silent newrs146645381 4 76489574 [A/G] NR_046430,NM_178497,NM_001206981,NR_046429,NM_001257072 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Silent,Nonsense_W106X,Missense_G121D,Silent,Silent exm406479 4 76489582 [A/G] NR_046430,NM_178497,NM_001206981,NR_046429,NM_001257072 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Silent,Missense_R109H,Missense_V124I,Silent,Silent exm406480 4 76489584 [T/C] NR_046430,NM_178497,NM_001206981,NR_046429,NM_001257072 C4orf26,C4orf26,C4orf26,C4orf26,C4orf26 EXON Silent,Missense_Y110H,Synonymous_V124V,Silent,Silent rs6857229 4 76491568 [A/G] rs6851864 4 76493256 [T/C] variant.81515 4 76507051 [A/G] NM_003948 CDKL2 EXON Nonsense_Q492X rs4859966 4 76519096 [A/C] NM_003948 CDKL2 Silent exm406490 4 76521525 [T/C] NM_003948 CDKL2 Silent exm406495 4 76522209 [A/G] NM_003948 CDKL2 EXON Missense_A411V exm406496 4 76522213 [T/C] NM_003948 CDKL2 EXON Missense_V410M exm406512 4 76525532 [T/C] NM_003948 CDKL2 EXON Missense_D273N exm406518 4 76529013 [T/C] NM_003948 CDKL2 EXON Missense_I261M exm406520 4 76529038 [T/C] NM_003948 CDKL2 EXON Missense_Y253C exm406521 4 76529042 [A/G] NM_003948 CDKL2 EXON Missense_R252C variant.81517 4 76529120 [A/G] NM_003948 CDKL2 EXON Nonsense_Q226X exm2079118 4 76530796 [A/C] NM_003948 CDKL2 EXON Missense_G189C variant.81518 4 76530804 [T/C] NM_003948 CDKL2 EXON Nonsense_W186X indel.81519 4 76532453 [I/D] NM_003948 CDKL2 EXON indel.81520 4 76532474 [I/D] NM_003948 CDKL2 EXON exm406527 4 76532493 [A/G] NM_003948 CDKL2 EXON Missense_V139A variant.81521 4 76532503 [A/G] NM_003948 CDKL2 EXON Nonsense_Q136X rs2055997 4 76535086 [A/G] NM_003948 CDKL2 Silent exm2079127 4 76551025 [A/G] NM_003948 CDKL2 EXON Nonsense_R50X rs1553985 4 76554604 [A/G] NM_003948 CDKL2 Silent rs11097041 4 76565970 [T/C] rs2037012 4 76566975 [A/G] exm406559 4 76579196 [A/G] NM_203504,NM_203505,NM_012297 G3BP2,G3BP2,G3BP2 EXON Silent,Missense_P266S,Missense_P266S exm406567 4 76580368 [T/C] NM_203504,NM_203505,NM_012297 G3BP2,G3BP2,G3BP2 EXON Missense_E203G,Missense_E203G,Missense_E203G exm406573 4 76582784 [T/C] NM_203504,NM_203505,NM_012297 G3BP2,G3BP2,G3BP2 EXON Missense_Q103R,Missense_Q103R,Missense_Q103R rs13141390 4 76585975 [T/C] NM_203504,NM_203505,NM_012297 G3BP2,G3BP2,G3BP2 Silent,Silent,Silent rs7665811 4 76633325 [A/G] rs7662940 4 76650443 [T/C] NM_003715 USO1 Silent rs4859406 4 76660500 [A/G] NM_003715 USO1 Silent rs324709 4 76695302 [T/C] NM_003715 USO1 Silent exm406596 4 76695830 [A/G] NM_003715 USO1 EXON Missense_A136T exm406597 4 76695831 [T/C] NM_003715 USO1 EXON Missense_A136V exm406598 4 76695906 [A/G] NM_003715 USO1 EXON Missense_R161K exm406599 4 76695927 [A/G] NM_003715 USO1 EXON Missense_Q168R rs2089253 4 76697211 [A/G] NM_003715 USO1 Silent rs324706 4 76698424 [A/G] NM_003715 USO1 Silent exm406603 4 76703975 [T/G] NM_003715 USO1 EXON Missense_L223R exm406605 4 76704004 [T/C] NM_003715 USO1 EXON Missense_C233R exm2274023 4 76708226 [A/G] NM_003715 USO1 EXON Missense_Y239C exm406608 4 76708345 [T/C] NM_003715 USO1 EXON Missense_S279P indel.81527 4 76711833 [D/I] NM_003715 USO1 EXON exm406616 4 76711919 [T/C] NM_003715 USO1 EXON Missense_S353L rs10212995 4 76712173 [A/G] NM_003715 USO1 Silent exm406625 4 76720885 [T/C] NM_003715 USO1 EXON Missense_F471S exm406628 4 76721583 [T/C] NM_003715 USO1 EXON Nonsense_R498X exm406629 4 76721584 [A/G] NM_003715 USO1 EXON Missense_R498Q exm406630 4 76721810 [A/C] NM_003715 USO1 EXON Missense_K524T exm406638 4 76722349 [A/G] NM_003715 USO1 EXON Missense_S611G exm406639 4 76722353 [A/G] NM_003715 USO1 EXON Missense_R612K exm406642 4 76725313 [A/G] NM_003715 USO1 EXON Missense_S621N exm406647 4 76726294 [A/G] NM_003715 USO1 EXON Missense_E659G exm406649 4 76726447 [T/C] NM_003715 USO1 EXON Missense_L710S exm406650 4 76727641 [A/G] NM_003715 USO1 EXON Missense_N714S exm406652 4 76730178 [G/C] NM_003715 USO1 EXON Missense_R766S exm406654 4 76730195 [A/G] NM_003715 USO1 EXON Missense_Q772R exm406655 4 76730201 [A/G] NM_003715 USO1 EXON Missense_R774H rs324694 4 76730908 [T/C] NM_003715 USO1 Silent exm406656 4 76731585 [A/G] NM_003715 USO1 EXON Synonymous_L775L exm406661 4 76731684 [C/G] NM_003715 USO1 EXON Missense_K808N variant.81530 4 76731697 [A/G] NM_003715 USO1 Silent exm406663 4 76733389 [T/C] NM_003715 USO1 EXON Missense_F837L rs6847598 4 76750356 [T/C] rs924937 4 76769442 [A/G] rs13149236 4 76770159 [T/C] rs6811965 4 76780087 [T/C] exm406682 4 76782056 [T/C] NM_006239 PPEF2 EXON Missense_E676K exm406685 4 76785594 [T/G] NM_006239 PPEF2 EXON Synonymous_S669S exm406686 4 76785641 [A/G] NM_006239 PPEF2 EXON Nonsense_R654X indel.81532 4 76785681 [I/D] NM_006239 PPEF2 variant.81533 4 76787337 [A/G] NM_006239 PPEF2 Silent exm406690 4 76787346 [T/C] NM_006239 PPEF2 EXON Missense_R639H exm406695 4 76787439 [A/C] NM_006239 PPEF2 EXON Missense_R608L exm406696 4 76787440 [C/G] NM_006239 PPEF2 EXON Missense_R608G exm406698 4 76788499 [A/T] NM_006239 PPEF2 EXON Missense_S575C exm406701 4 76788564 [T/C] NM_006239 PPEF2 EXON Missense_R553K rs9998204 4 76790571 [A/G] NM_006239 PPEF2 Silent exm406705 4 76793217 [T/C] NM_006239 PPEF2 EXON Missense_Q537R exm406713 4 76794311 [A/G] NM_006239 PPEF2 EXON Missense_P492L exm406714 4 76794345 [T/G] NM_006239 PPEF2 EXON Missense_M481L exm-IND4-77013474 4 76794450 [D/I] NM_006239 PPEF2 EXON exm406726 4 76797526 [T/C] NM_006239 PPEF2 EXON Missense_E412K exm406730 4 76797565 [G/C] NM_006239 PPEF2 EXON Missense_E399Q exm406732 4 76797580 [C/G] NM_006239 PPEF2 EXON Missense_V394L exm406735 4 76797597 [T/C] NM_006239 PPEF2 EXON Missense_R388Q exm406740 4 76797652 [T/C] NM_006239 PPEF2 EXON Missense_S370G exm406743 4 76797739 [A/G] NM_006239 PPEF2 EXON Nonsense_Q341X exm406744 4 76797756 [T/C] NM_006239 PPEF2 EXON Missense_N335S rs7694386 4 76803457 [A/G] NM_006239 PPEF2 Silent variant.81545 4 76804077 [A/C] NM_006239 PPEF2 Silent indel.81547 4 76804086 [I/D] NM_006239 PPEF2 EXON indel.81548 4 76804101 [I/D] NM_006239 PPEF2 EXON exm2241281 4 76804222 [T/C] NM_006239 PPEF2 EXON Missense_G264R variant.81549 4 76804314 [T/C] NM_006239 PPEF2 Silent variant.81550 4 76804318 [T/C] NM_006239 PPEF2 Silent exm406755 4 76805745 [A/G] NM_006239 PPEF2 Silent indel.81552 4 76805859 [D/I] NM_006239 PPEF2 EXON rs13120456 4 76809074 [T/C] NM_006239 PPEF2 Silent rs7691712 4 76809319 [A/G] NM_006239 PPEF2 Silent exm406779 4 76809385 [T/C] NM_006239 PPEF2 EXON Missense_E172K exm406781 4 76809396 [A/G] NM_006239 PPEF2 EXON Missense_T168I exm406788 4 76811175 [T/G] NM_006239 PPEF2 EXON Missense_R118S exm406791 4 76811193 [T/C] NM_006239 PPEF2 EXON Missense_D112N exm406792 4 76811223 [A/G] NM_006239 PPEF2 EXON Missense_C102R exm406795 4 76811249 [A/C] NM_006239 PPEF2 EXON Missense_F93C exm406796 4 76811270 [T/C] NM_006239 PPEF2 EXON Missense_R86H exm406801 4 76812831 [T/C] NM_006239 PPEF2 EXON Missense_D71N exm406807 4 76813036 [A/T] NM_006239 PPEF2 EXON Missense_I51L exm406810 4 76813062 [T/C] NM_006239 PPEF2 EXON Missense_R42H exm406811 4 76813080 [T/C] NM_006239 PPEF2 EXON Missense_R36H rs10007472 4 76817221 [T/C] NM_006239 PPEF2 Silent exm406816 4 76817469 [T/C] NM_006239 PPEF2 EXON Missense_G4S rs13147538 4 76818367 [A/G] NM_006239 PPEF2 Silent rs9784511 4 76824078 [T/C] rs2047985 4 76834209 [T/C] NM_001042402 NAAA Silent exm406820 4 76836110 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Silent,Missense_A343T exm406822 4 76836137 [A/G] NM_001042402,NM_014435 NAAA,NAAA EXON Silent,Missense_F334L rs6823734 4 76836137 [A/G] NM_001042402,NM_014435 NAAA,NAAA EXON Silent,Missense_F334L variant.81555 4 76839909 [T/C] NM_001042402,NM_014435 NAAA,NAAA Silent,Silent exm406824 4 76839937 [A/C] NM_001042402,NM_014435 NAAA,NAAA EXON Silent,Missense_L325F variant.81556 4 76841012 [A/C] NM_001042402,NM_014435 NAAA,NAAA Silent,Silent newrs78373345 4 76841062 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Synonymous_Q323Q,Synonymous_Q323Q exm406827 4 76841062 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Synonymous_Q323Q,Synonymous_Q323Q var_4_76841130 4 76841130 [T/C] NM_001042402,NM_014435 NAAA,NAAA Silent,Silent variant.81559 4 76841946 [A/G] NM_001042402,NM_014435 NAAA,NAAA EXON Nonsense_R283X,Nonsense_R283X exm406835 4 76842103 [T/C] NM_001042402,NM_014435 NAAA,NAAA Silent,Silent exm406836 4 76842151 [G/C] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_N264K,Missense_N264K exm406842 4 76842182 [A/G] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_S254F,Missense_S254F exm406844 4 76842185 [A/G] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_T253M,Missense_T253M exm406848 4 76842269 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_S225N,Missense_S225N exm406850 4 76842275 [A/G] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_T223I,Missense_T223I exm2269778 4 76846755 [T/C] NM_001042402,NM_014435 NAAA,NAAA Silent,Silent rs7670521 4 76848886 [A/G] NM_001042402,NM_014435 NAAA,NAAA Silent,Silent variant.81561 4 76852370 [A/G] NM_001042402,NM_014435 NAAA,NAAA EXON Nonsense_R196X,Nonsense_R196X exm406862 4 76857302 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_R153H,Missense_R153H exm406864 4 76857309 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_V151I,Missense_V151I exm406869 4 76857388 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Synonymous_V124V,Synonymous_V124V exm406875 4 76861175 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_N117S,Missense_N117S exm406876 4 76861204 [T/G] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_N107K,Missense_N107K exm406878 4 76861233 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_E98K,Missense_E98K exm406880 4 76861304 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_K74R,Missense_K74R exm406881 4 76861316 [T/C] NM_001042402,NM_014435 NAAA,NAAA EXON Missense_D70G,Missense_D70G variant.81564 4 76871941 [A/G] NM_018115 SDAD1 EXON Nonsense_R676X exm406895 4 76871949 [A/C] NM_018115 SDAD1 EXON Missense_L673W rs17001275 4 76874996 [T/C] NM_018115 SDAD1 Silent exm406897 4 76877147 [T/C] NM_018115 SDAD1 EXON Missense_R666H exm406898 4 76877148 [A/G] NM_018115 SDAD1 EXON Missense_R666C exm406900 4 76877166 [T/C] NM_018115 SDAD1 EXON Missense_V660I exm406906 4 76877285 [C/G] NM_018115 SDAD1 EXON Missense_G620A exm406911 4 76878530 [T/C] NM_018115 SDAD1 EXON Missense_R601H exm406913 4 76878548 [T/G] NM_018115 SDAD1 EXON Missense_S595Y exm406927 4 76878836 [A/G] NM_018115 SDAD1 EXON Missense_M535T exm406929 4 76878857 [T/C] NM_018115 SDAD1 EXON Missense_K528R variant.81566 4 76879096 [T/G] NM_018115 SDAD1 Silent newrs138299038 4 76881231 [A/C] NM_018115 SDAD1 EXON Nonsense_E491X exm406937 4 76881233 [T/G] NM_018115 SDAD1 EXON Missense_A490D exm406938 4 76881285 [T/C] NM_018115 SDAD1 EXON Missense_K473E variant.81569 4 76882219 [A/G] NM_018115 SDAD1 EXON Nonsense_R440X variant.81570 4 76882409 [A/C] NM_018115 SDAD1 EXON Nonsense_E412X exm2079289 4 76882438 [A/G] NM_018115 SDAD1 EXON Missense_T402I variant.81571 4 76885365 [A/C] NM_018115 SDAD1 Silent rs2271527 4 76885423 [T/C] NM_018115 SDAD1 Silent exm-rs2273 4 76889388 [T/C] NM_018115 SDAD1 Silent exm406966 4 76890546 [A/G] NM_018115 SDAD1 EXON Missense_A297V exm2256727 4 76891472 [A/G] NM_018115 SDAD1 EXON Synonymous_H291H exm406968 4 76891472 [A/G] NM_018115 SDAD1 EXON Synonymous_H291H exm406977 4 76892610 [T/C] NM_018115 SDAD1 EXON Missense_D238G exm2241286 4 76895260 [A/G] NM_018115 SDAD1 EXON Missense_I202T exm406986 4 76896921 [A/G] NM_018115 SDAD1 EXON Missense_I185T exm2241287 4 76896972 [A/G] NM_018115 SDAD1 EXON Missense_M168T variant.81574 4 76897077 [T/C] NM_018115 SDAD1 EXON Synonymous_V159V variant.81575 4 76898794 [T/C] NM_018115 SDAD1 Silent exm406996 4 76898867 [T/C] NM_018115 SDAD1 EXON Missense_I113V exm407001 4 76902572 [G/C] NM_018115 SDAD1 EXON Missense_D83H rs3733238 4 76902739 [A/G] NM_018115 SDAD1 Silent rs10008757 4 76903036 [A/G] NM_018115 SDAD1 Silent exm407017 4 76924756 [T/C] NM_002416 CXCL9 EXON Missense_T125A rs10031452 4 76924933 [T/C] NM_002416 CXCL9 Silent indel.81581 4 76927396 [D/I] NM_002416 CXCL9 EXON rs8878 4 76942300 [A/G] NM_001130017,NM_001565 ART3,CXCL10 EXON Silent,Silent exm407033 4 76943085 [A/G] NM_001130017,NM_001565 ART3,CXCL10 EXON Silent,Missense_X99Q exm407040 4 76943947 [A/G] NM_001130017,NM_001565 ART3,CXCL10 EXON Silent,Missense_R29C rs4256246 4 76945522 [A/G] NM_001130017 ART3 Silent rs12504339 4 76947304 [T/C] NM_001130017 ART3 Silent rs9994667 4 76955248 [A/G] NM_001130017,NM_005409 ART3,CXCL11 EXON Silent,Silent exm407044 4 76955947 [A/T] NM_001130017,NM_005409 ART3,CXCL11 EXON Silent,Missense_X95L exm407053 4 76956246 [T/C] NM_001130017,NM_005409 ART3,CXCL11 EXON Silent,Missense_Q72R rs7679689 4 76963187 [A/G] NM_001130017 ART3 Silent rs11097223 4 76987496 [A/G] NM_001130017 ART3 Silent rs7693606 4 76991897 [A/G] NM_001130017 ART3 Silent exm407069 4 76997050 [T/C] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON Missense_T3M,Missense_T3M,Missense_T3M variant.81582 4 76997052 [T/G] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON Nonsense_G4X,Nonsense_G4X,Nonsense_G4X exm407079 4 77003070 [A/C] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON Missense_L55M,Missense_L55M,Missense_L55M exm407083 4 77003203 [A/T] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON Missense_M99K,Missense_M99K,Missense_M99K exm407085 4 77003212 [T/C] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON Missense_I102T,Missense_I102T,Missense_I102T indel.81584 4 77003396 [I/D] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON exm407098 4 77003484 [A/G] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON Missense_A193T,Missense_A193T,Missense_A193T exm2241290 4 77003490 [A/G] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON Missense_N195D,Missense_N195D,Missense_N195D exm407099 4 77003520 [A/C] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON Missense_T205P,Missense_T205P,Missense_T205P exm407100 4 77003525 [A/C] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON Nonsense_C206X,Nonsense_C206X,Nonsense_C206X indel.81585 4 77003675 [I/D] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON rs17001357 4 77007912 [T/C] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 Silent,Silent,Silent exm407106 4 77018806 [C/G] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON Missense_T264S,Missense_T264S,Missense_T264S rs6829592 4 77019581 [A/G] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 Silent,Silent,Silent variant.81586 4 77020145 [A/G] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 Silent,Silent,Silent exm407114 4 77021442 [A/C] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 Silent,Silent,Silent exm407118 4 77021968 [A/G] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON Missense_E300K,Missense_E300K,Missense_E300K exm407122 4 77022143 [A/G] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON Missense_G303D,Missense_G303D,Missense_G303D rs17001392 4 77024354 [A/G] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 Silent,Silent,Silent rs7682766 4 77025273 [T/C] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 Silent,Silent,Silent rs7697711 4 77025368 [A/G] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 Silent,Silent,Silent exm2256730 4 77028939 [T/C] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON Silent,Synonymous_N332N,Synonymous_N343N exm407135 4 77028939 [T/C] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON Silent,Synonymous_N332N,Synonymous_N343N rs6836703 4 77030147 [A/G] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 Silent,Silent,Silent rs4241583 4 77030971 [T/C] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 Silent,Silent,Silent exm407141 4 77033590 [T/C] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON Missense_S341L,Missense_S352L,Missense_S363L rs1128864 4 77033590 [T/C] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON Missense_S341L,Missense_S352L,Missense_S363L indel.81589 4 77033641 [I/D] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON exm407145 4 77033659 [T/C] NM_001130017,NM_001179,NM_001130016 ART3,ART3,ART3 EXON Missense_F364S,Missense_F375S,Missense_F386S rs4859426 4 77037045 [T/C] NM_017426 NUP54 Silent rs11944608 4 77038643 [T/C] NM_017426 NUP54 Silent variant.81590 4 77038831 [A/G] NM_017426 NUP54 EXON Nonsense_R461X exm407158 4 77038912 [T/A] NM_017426 NUP54 EXON Missense_L434M variant.81591 4 77039281 [A/G] NM_017426 NUP54 EXON Nonsense_R411X indel.81592 4 77039313 [D/I] NM_017426 NUP54 EXON rs6532203 4 77040424 [T/C] NM_017426 NUP54 Silent rs6532208 4 77044258 [T/C] NM_017426 NUP54 Silent exm407171 4 77045812 [T/C] NM_017426 NUP54 EXON Missense_R385K variant.81593 4 77051862 [A/G] NM_017426 NUP54 EXON Nonsense_R335X exm407191 4 77053834 [T/C] NM_017426 NUP54 EXON Missense_N250S variant.81594 4 77057347 [A/G] NM_017426 NUP54 EXON Nonsense_R172X exm407201 4 77057438 [C/G] NM_017426 NUP54 EXON Missense_W141C exm407210 4 77065379 [T/G] NM_017426 NUP54 EXON Missense_T73N rs1465920 4 77076451 [A/G] exm407224 4 77084386 [T/C] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Missense_M464V,Missense_M321V exm2079395 4 77084391 [T/C] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Missense_G462E,Missense_G319E exm407231 4 77084514 [A/G] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Missense_T421M,Missense_T278M exm407236 4 77087432 [T/C] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Missense_M404V,Missense_M261V exm2261759 4 77087704 [T/G] NM_005506,NM_001204255 SCARB2,SCARB2 Silent,Silent indel.81595 4 77089553 [I/D] NM_005506,NM_001204255 SCARB2,SCARB2 exm407237 4 77089557 [T/C] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Missense_V396I,Missense_V253I exm407243 4 77091123 [A/G] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Missense_M337T,Missense_M194T exm407248 4 77095372 [T/C] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Missense_D307N,Missense_D164N exm2274024 4 77095377 [A/G] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Missense_T305M,Missense_T162M rs17001561 4 77096118 [A/G] NM_005506,NM_001204255 SCARB2,SCARB2 Silent,Silent rs3796496 4 77096220 [A/G] NM_005506,NM_001204255 SCARB2,SCARB2 Silent,Silent exm407258 4 77100807 [T/C] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Missense_M159V,Silent exm407259 4 77100837 [T/C] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Missense_V149M,Silent exm2079406 4 77100852 [A/T] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Missense_I144L,Silent exm407265 4 77102148 [C/G] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Missense_P128A,Silent exm407266 4 77102151 [A/C] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Missense_D127Y,Silent exm407267 4 77102168 [T/C] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Missense_R121Q,Silent exm407268 4 77102169 [A/G] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Nonsense_R121X,Silent exm407273 4 77102253 [T/C] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Missense_E93K,Silent rs11946079 4 77105700 [T/G] NM_005506,NM_001204255 SCARB2,SCARB2 Silent,Silent exm407275 4 77116891 [A/G] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Missense_R82W,Missense_R82W exm2256731 4 77116907 [A/G] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Synonymous_L76L,Synonymous_L76L exm407277 4 77116941 [T/C] NM_005506,NM_001204255 SCARB2,SCARB2 EXON Missense_Y65C,Missense_Y65C rs17001633 4 77120873 [A/G] NM_005506,NM_001204255 SCARB2,SCARB2 Silent,Silent rs12508223 4 77128026 [A/G] NM_005506,NM_001204255 SCARB2,SCARB2 Silent,Silent rs7685696 4 77139510 [A/G] NM_001242936 FAM47E Silent exm-rs10032423 4 77140733 [T/C] NM_001242936 FAM47E Silent rs1441904 4 77151880 [A/G] NM_001242936 FAM47E Silent rs6846983 4 77151938 [T/C] NM_001242936 FAM47E Silent rs1441922 4 77159700 [A/G] NM_001242936 FAM47E Silent rs10856883 4 77174469 [A/C] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 Silent,Silent,Silent rs717239 4 77175743 [A/G] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 Silent,Silent,Silent rs7671407 4 77176552 [A/G] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 Silent,Silent,Silent rs7655536 4 77176768 [T/C] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 Silent,Silent,Silent rs2289514 4 77177817 [A/G] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 Silent,Silent,Silent exm407298 4 77184996 [T/C] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 EXON Missense_P74L,Missense_P187L,Missense_P187L exm407299 4 77184997 [A/G] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 Silent,Silent,Silent rs17308336 4 77186415 [A/C] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 Silent,Silent,Silent exm407302 4 77189868 [T/C] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 EXON Missense_H93Y,Missense_H206Y,Missense_H206Y exm407310 4 77192838 [A/C] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 EXON Missense_K165Q,Missense_K263Q,Missense_K263Q exm407311 4 77192868 [A/G] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 EXON Missense_E175K,Missense_E273K,Missense_E273K rs6812193 4 77198986 [T/C] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 Silent,Silent,Silent exm-rs6812193 4 77198986 [T/C] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 Silent,Silent,Silent rs964051 4 77199414 [A/C] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 Silent,Silent,Silent rs1036788 4 77201487 [T/C] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 EXON Missense_T268M,Missense_T366M,Silent exm407314 4 77201487 [T/C] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 EXON Missense_T268M,Missense_T366M,Silent newrs78752268 4 77204532 [A/G] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 Silent,Silent,Silent exm407316 4 77204570 [T/C] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 EXON Missense_R283C,Missense_R381C,Silent exm407317 4 77204597 [T/C] NM_001242936,NM_001136570,NM_001242939 FAM47E,FAM47E,FAM47E-STBD1 EXON Nonsense_R292X,Nonsense_R390X,Silent rs6532327 4 77208412 [T/C] NM_001242939 FAM47E-STBD1 Silent exm407323 4 77228006 [A/C] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Synonymous_G28G exm407324 4 77228007 [A/G] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_D29N exm407326 4 77228043 [T/G] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_D41Y exm407328 4 77228059 [A/G] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_G46E rs3796491 4 77228724 [A/C] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 Silent,Silent exm407330 4 77230359 [A/G] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_A95T exm407333 4 77230411 [A/G] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_R112K exm2241292 4 77230533 [T/C] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_W153R indel.81602 4 77230619 [I/D] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON indel.81604 4 77230783 [D/I] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON variant.81605 4 77230881 [T/C] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Nonsense_Q269X indel.81606 4 77230903 [D/I] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON exm407353 4 77231023 [A/C] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_D316A exm2079438 4 77231046 [A/G] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_V324M exm407356 4 77231101 [T/C] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_L342P exm407358 4 77231139 [T/C] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Missense_W355R rs3733248 4 77231294 [A/C] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Silent rs17001772 4 77231611 [A/G] NM_001242939,NM_003943 FAM47E-STBD1,STBD1 EXON Silent,Silent exm407364 4 77234376 [T/G] NM_001042784 CCDC158 EXON Missense_Q1097K exm407371 4 77244557 [A/G] NM_001042784 CCDC158 EXON Nonsense_Q1055X exm407377 4 77247061 [T/C] NM_001042784 CCDC158 EXON Missense_T1036A exm407378 4 77247075 [T/C] NM_001042784 CCDC158 EXON Missense_G1031D exm407381 4 77247139 [A/G] NM_001042784 CCDC158 EXON Missense_R1010C exm407387 4 77250101 [T/C] NM_001042784 CCDC158 EXON Missense_A984T rs7658585 4 77252196 [T/C] NM_001042784 CCDC158 Silent exm2079453 4 77253584 [T/C] NM_001042784 CCDC158 Silent exm407396 4 77255178 [C/G] NM_001042784 CCDC158 EXON Missense_A936G rs1911737 4 77262103 [T/C] NM_001042784 CCDC158 Silent rs10002448 4 77269262 [A/G] NM_001042784 CCDC158 Silent exm407416 4 77272886 [T/G] NM_001042784 CCDC158 EXON Missense_T842N exm407418 4 77272926 [A/G] NM_001042784 CCDC158 EXON Missense_R829C variant.81609 4 77272941 [A/G] NM_001042784 CCDC158 EXON Nonsense_Q824X indel.81610 4 77272944 [I/D] NM_001042784 CCDC158 EXON var_4_77274271 4 77274271 [A/G] NM_001042784 CCDC158 Silent exm407422 4 77274305 [T/C] NM_001042784 CCDC158 EXON Missense_V806I exm407423 4 77274306 [G/C] NM_001042784 CCDC158 EXON Missense_K805N exm407429 4 77274368 [T/C] NM_001042784 CCDC158 EXON Missense_K785E exm407430 4 77276512 [G/C] NM_001042784 CCDC158 EXON Missense_Q751E variant.81612 4 77278526 [T/C] NM_001042784 CCDC158 Silent indel.81614 4 77278543 [I/D] NM_001042784 CCDC158 EXON exm2079471 4 77278649 [A/C] NM_001042784 CCDC158 EXON Missense_R684L exm407432 4 77278650 [A/G] NM_001042784 CCDC158 EXON Nonsense_R684X exm407433 4 77278678 [T/C] NM_001042784 CCDC158 EXON Synonymous_E674E variant.81616 4 77283279 [T/C] NM_001042784 CCDC158 EXON Missense_E674K exm407440 4 77283381 [T/C] NM_001042784 CCDC158 EXON Missense_A640T variant.81617 4 77288442 [A/C] NM_001042784 CCDC158 Silent variant.81618 4 77288530 [A/G] NM_001042784 CCDC158 EXON Nonsense_R583X exm2079479 4 77288683 [T/C] NM_001042784 CCDC158 EXON Missense_E532K exm407450 4 77288760 [T/C] NM_001042784 CCDC158 EXON Missense_Q506R exm407452 4 77288833 [T/C] NM_001042784 CCDC158 EXON Missense_E482K exm407453 4 77288836 [T/C] NM_001042784 CCDC158 EXON Missense_V481I exm407455 4 77288866 [C/G] NM_001042784 CCDC158 EXON Missense_E471Q exm407456 4 77288874 [T/G] NM_001042784 CCDC158 EXON Missense_A468D exm407462 4 77290579 [T/C] NM_001042784 CCDC158 EXON Synonymous_Q449Q exm407467 4 77290670 [T/C] NM_001042784 CCDC158 EXON Missense_R419Q exm407470 4 77290721 [T/C] NM_001042784 CCDC158 EXON Missense_R402H exm407473 4 77290760 [T/C] NM_001042784 CCDC158 EXON Missense_R389K rs13116030 4 77292054 [A/G] NM_001042784 CCDC158 Silent exm2079489 4 77292577 [T/C] NM_001042784 CCDC158 EXON Missense_K381R exm407483 4 77300483 [T/C] NM_001042784 CCDC158 EXON Missense_R330H exm407487 4 77303788 [T/C] NM_001042784 CCDC158 EXON Missense_I297V exm407490 4 77303832 [T/C] NM_001042784 CCDC158 EXON Missense_G282E exm407493 4 77304865 [T/G] NM_001042784 CCDC158 EXON Missense_K251N exm407498 4 77305320 [T/C] NM_001042784 CCDC158 EXON Missense_R216H rs17001890 4 77305346 [A/G] NM_001042784 CCDC158 EXON Synonymous_H207H exm407501 4 77305356 [A/C] NM_001042784 CCDC158 EXON Missense_I204R exm407515 4 77305566 [T/C] NM_001042784 CCDC158 EXON Missense_R134Q exm407517 4 77305720 [G/C] NM_001042784 CCDC158 EXON Missense_M129I exm407526 4 77317607 [A/G] NM_001042784 CCDC158 EXON Missense_R35C exm2079514 4 77317630 [T/C] NM_001042784 CCDC158 EXON Missense_S27N exm407530 4 77324343 [A/C] NM_001042784 CCDC158 EXON Missense_W6C rs4272041 4 77330682 [A/G] rs17001949 4 77343148 [T/C] rs6827818 4 77355639 [A/G] exm407534 4 77357273 [A/G] NM_020859 SHROOM3 EXON Missense_G23E exm407536 4 77357309 [T/G] NM_020859 SHROOM3 EXON Missense_G35V rs11097356 4 77359677 [T/C] NM_020859 SHROOM3 Silent exm-rs9992101 4 77360431 [A/G] NM_020859 SHROOM3 Silent rs7677847 4 77364126 [A/G] NM_020859 SHROOM3 Silent rs4859673 4 77364799 [A/G] NM_020859 SHROOM3 Silent exm-rs17319721 4 77368847 [A/G] NM_020859 SHROOM3 Silent rs4859678 4 77386372 [T/G] NM_020859 SHROOM3 Silent rs1511817 4 77386678 [A/G] NM_020859 SHROOM3 Silent rs6843293 4 77392092 [A/G] NM_020859 SHROOM3 Silent rs10032549 4 77398015 [A/G] NM_020859 SHROOM3 Silent rs4859682 4 77410318 [A/C] NM_020859 SHROOM3 Silent exm-rs13146355 4 77412140 [A/G] NM_020859 SHROOM3 Silent exm-rs13106227 4 77418681 [A/G] NM_020859 SHROOM3 Silent rs13106227 4 77418681 [A/G] NM_020859 SHROOM3 Silent exm2269779 4 77419073 [T/C] NM_020859 SHROOM3 Silent rs1986734 4 77420784 [T/C] NM_020859 SHROOM3 Silent exm-rs1986734 4 77420784 [T/C] NM_020859 SHROOM3 Silent rs7696372 4 77424167 [T/C] NM_020859 SHROOM3 Silent rs4452451 4 77430136 [T/C] NM_020859 SHROOM3 Silent rs10002311 4 77442504 [A/C] NM_020859 SHROOM3 Silent rs6810716 4 77452151 [T/C] NM_020859 SHROOM3 Silent rs10023611 4 77454497 [A/G] NM_020859 SHROOM3 Silent rs10024176 4 77455181 [A/G] NM_020859 SHROOM3 Silent rs9999005 4 77456093 [T/C] NM_020859 SHROOM3 Silent rs11097403 4 77459600 [T/G] NM_020859 SHROOM3 Silent rs6817593 4 77461011 [T/C] NM_020859 SHROOM3 Silent rs17002074 4 77464016 [A/G] NM_020859 SHROOM3 Silent rs10005964 4 77470300 [A/G] NM_020859 SHROOM3 Silent rs13120833 4 77471116 [T/C] NM_020859 SHROOM3 Silent exm407540 4 77476772 [T/G] NM_020859 SHROOM3 EXON Missense_G60V exm407548 4 77476909 [C/G] NM_020859 SHROOM3 EXON Missense_V106L rs7687284 4 77487977 [T/G] NM_020859 SHROOM3 Silent rs6824297 4 77492155 [T/G] NM_020859 SHROOM3 Silent rs12503111 4 77503120 [T/G] NM_020859 SHROOM3 Silent rs6846198 4 77517128 [A/G] NM_020859 SHROOM3 Silent rs12501546 4 77521826 [A/G] NM_020859 SHROOM3 Silent rs17322390 4 77523129 [A/G] NM_020859 SHROOM3 Silent rs7669852 4 77542398 [A/G] NM_020859 SHROOM3 Silent rs13104324 4 77543863 [A/G] NM_020859 SHROOM3 Silent rs10223020 4 77547939 [A/G] NM_020859 SHROOM3 Silent rs7695340 4 77551310 [T/C] NM_020859 SHROOM3 Silent rs4582178 4 77552782 [A/G] NM_020859 SHROOM3 Silent rs4859699 4 77555857 [A/G] NM_020859 SHROOM3 Silent rs17322529 4 77560811 [A/G] NM_020859 SHROOM3 Silent rs17002139 4 77576402 [A/G] NM_020859 SHROOM3 Silent rs13130505 4 77594917 [T/C] NM_020859 SHROOM3 Silent rs2035945 4 77621705 [A/G] NM_020859 SHROOM3 Silent rs13121538 4 77626887 [T/C] NM_020859 SHROOM3 Silent rs11734394 4 77640617 [A/G] NM_020859 SHROOM3 Silent exm407555 4 77651958 [T/C] NM_020859 SHROOM3 EXON Missense_R153C exm407558 4 77652057 [C/G] NM_020859 SHROOM3 EXON Missense_G186R exm407559 4 77652060 [T/C] NM_020859 SHROOM3 EXON Missense_P187S rs344135 4 77652219 [T/C] NM_020859 SHROOM3 Silent exm407576 4 77660162 [C/G] NM_020859 SHROOM3 EXON Missense_G279A exm2275755 4 77660266 [T/C] NM_020859 SHROOM3 EXON Missense_R314W exm407586 4 77660267 [A/G] NM_020859 SHROOM3 EXON Missense_R314Q exm407587 4 77660299 [T/G] NM_020859 SHROOM3 EXON Missense_S325A exm407588 4 77660381 [A/G] NM_020859 SHROOM3 EXON Missense_R352Q exm407590 4 77660393 [T/C] NM_020859 SHROOM3 EXON Missense_V356A exm407593 4 77660414 [A/G] NM_020859 SHROOM3 EXON Missense_Q363R exm407594 4 77660427 [T/G] NM_020859 SHROOM3 EXON Missense_S367R exm407603 4 77660566 [T/C] NM_020859 SHROOM3 EXON Missense_R414W exm407614 4 77660731 [C/G] NM_020859 SHROOM3 EXON Missense_P469A rs344141 4 77660731 [C/G] NM_020859 SHROOM3 EXON Missense_P469A exm407620 4 77660829 [A/C] NM_020859 SHROOM3 EXON Nonsense_Y501X exm407622 4 77660860 [A/G] NM_020859 SHROOM3 EXON Missense_A512T exm407628 4 77661017 [A/C] NM_020859 SHROOM3 EXON Missense_E564A exm407632 4 77661127 [T/C] NM_020859 SHROOM3 EXON Missense_H601Y exm407635 4 77661176 [A/G] NM_020859 SHROOM3 EXON Missense_K617R exm407649 4 77661446 [A/G] NM_020859 SHROOM3 EXON Missense_K707R exm407650 4 77661479 [A/G] NM_020859 SHROOM3 EXON Missense_R718Q exm407652 4 77661500 [T/C] NM_020859 SHROOM3 EXON Missense_P725L exm407654 4 77661550 [T/C] NM_020859 SHROOM3 EXON Missense_P742S exm407659 4 77661636 [C/G] NM_020859 SHROOM3 EXON Missense_Q770H exm407664 4 77661704 [A/C] NM_020859 SHROOM3 EXON Missense_Q793P exm407667 4 77661755 [A/G] NM_020859 SHROOM3 EXON Missense_R810K exm407674 4 77661875 [A/G] NM_020859 SHROOM3 EXON Missense_N850S exm2277282 4 77662123 [T/G] NM_020859 SHROOM3 EXON Missense_S933A exm407692 4 77662361 [A/C] NM_020859 SHROOM3 EXON Missense_T1012N exm407698 4 77662486 [T/G] NM_020859 SHROOM3 EXON Missense_V1054L exm2079575 4 77663057 [T/C] NM_020859 SHROOM3 EXON Missense_P1244L rs4859711 4 77665279 [A/G] NM_020859 SHROOM3 Silent exm407717 4 77670194 [A/G] NM_020859 SHROOM3 EXON Missense_G1260S rs3733242 4 77675505 [T/C] NM_020859 SHROOM3 EXON Missense_P1290L exm407727 4 77675570 [A/G] NM_020859 SHROOM3 EXON Missense_V1312I exm407738 4 77675828 [T/C] NM_020859 SHROOM3 EXON Missense_P1398S exm407743 4 77675925 [A/G] NM_020859 SHROOM3 EXON Missense_R1430Q exm407749 4 77676026 [T/C] NM_020859 SHROOM3 EXON Missense_P1464S exm407752 4 77676077 [A/C] NM_020859 SHROOM3 EXON Missense_T1481P exm407756 4 77676154 [C/G] NM_020859 SHROOM3 EXON Missense_D1506E exm407757 4 77676155 [A/G] NM_020859 SHROOM3 EXON Missense_E1507K exm407763 4 77676309 [A/C] NM_020859 SHROOM3 EXON Missense_Q1558P exm2079606 4 77677618 [A/G] NM_020859 SHROOM3 EXON Missense_K1576E exm407766 4 77677646 [A/T] NM_020859 SHROOM3 EXON Missense_M1585K exm407771 4 77677742 [T/C] NM_020859 SHROOM3 EXON Missense_F1617S exm407773 4 77677750 [A/G] NM_020859 SHROOM3 EXON Missense_V1620I exm407774 4 77677759 [A/C] NM_020859 SHROOM3 EXON Missense_Q1623K exm2079610 4 77677994 [A/G] NM_020859 SHROOM3 EXON Missense_G1701D exm407786 4 77680822 [A/G] NM_020859 SHROOM3 EXON Missense_E1775K rs13113476 4 77684099 [A/G] NM_020859 SHROOM3 Silent exm407792 4 77691828 [T/C] NM_020859 SHROOM3 EXON Missense_A1800V exm407795 4 77691937 [A/G] NM_020859 SHROOM3 EXON Missense_M1836I exm2256734 4 77694258 [A/G] NM_020859 SHROOM3 Silent exm407801 4 77699987 [T/C] NM_020859 SHROOM3 EXON Missense_I1883T exm407811 4 77700253 [A/G] NM_020859 SHROOM3 EXON Missense_N1972D rs7661695 4 77701909 [A/G] NM_020859 SHROOM3 EXON Silent rs17002218 4 77725091 [T/C] rs6840749 4 77726159 [A/G] rs7663030 4 77730260 [A/G] rs17002240 4 77742277 [A/G] rs9307199 4 77751647 [A/G] rs11097539 4 77754140 [A/G] rs4859466 4 77763831 [T/C] rs17002253 4 77771345 [T/C] rs6821290 4 77785183 [T/G] rs6810774 4 77792007 [A/C] rs237616 4 77793015 [T/G] rs6532676 4 77793829 [T/C] rs6532686 4 77804009 [T/C] rs6853383 4 77812990 [T/C] rs4859725 4 77815545 [T/C] exm407816 4 77816631 [T/C] NM_001029870 SOWAHB EXON Missense_Y791C exm407822 4 77816712 [A/G] NM_001029870 SOWAHB EXON Missense_A764V exm407826 4 77816802 [A/T] NM_001029870 SOWAHB EXON Missense_V734D exm407838 4 77817019 [T/C] NM_001029870 SOWAHB EXON Missense_D662N exm407847 4 77817325 [T/C] NM_001029870 SOWAHB EXON Missense_E560K exm407854 4 77817457 [T/C] NM_001029870 SOWAHB EXON Missense_D516N exm407859 4 77817554 [A/C] NM_001029870 SOWAHB EXON Missense_K483N exm407862 4 77817640 [A/G] NM_001029870 SOWAHB EXON Missense_P455S exm407870 4 77817874 [T/G] NM_001029870 SOWAHB EXON Missense_P377T exm407872 4 77817933 [A/G] NM_001029870 SOWAHB EXON Missense_S357F exm407878 4 77818132 [G/C] NM_001029870 SOWAHB EXON Missense_P291A exm407891 4 77818548 [T/C] NM_001029870 SOWAHB EXON Missense_D152G rs2703115 4 77824442 [T/C] rs2703147 4 77831307 [A/G] rs2703137 4 77854979 [T/G] rs1874565 4 77857753 [T/C] rs4859727 4 77866648 [T/C] rs10213389 4 77878392 [T/G] NM_018243 SEPT11 Silent rs2703111 4 77880892 [T/C] NM_018243 SEPT11 Silent rs17002297 4 77882431 [T/C] NM_018243 SEPT11 Silent rs2132768 4 77894220 [A/G] NM_018243 SEPT11 Silent rs883698 4 77915665 [A/G] NM_018243 SEPT11 Silent rs6836567 4 77916705 [A/C] NM_018243 SEPT11 Silent rs7692644 4 77918966 [A/G] NM_018243 SEPT11 Silent rs878729 4 77921005 [T/C] NM_018243 SEPT11 Silent exm407917 4 77932956 [A/T] NM_018243 SEPT11 EXON Missense_K136I exm407923 4 77936148 [T/C] NM_018243 SEPT11 EXON Missense_A222V exm407932 4 77941741 [A/C] NM_018243 SEPT11 EXON Missense_T291P indel.81636 4 77969423 [I/D] NM_006835 CCNI EXON exm407953 4 77969505 [T/C] NM_006835 CCNI EXON Missense_Y334C rs4241599 4 77974545 [T/C] NM_006835 CCNI Silent exm407964 4 77976374 [T/C] NM_006835 CCNI EXON Missense_V207I rs4252901 4 77977235 [T/C] NM_006835 CCNI EXON Synonymous_V113V exm407982 4 77979788 [T/G] NM_006835 CCNI EXON Missense_N39H rs4252845 4 77984155 [A/C] NM_006835 CCNI Silent rs1048417 4 77992014 [T/G] NM_006835 CCNI Silent rs4518273 4 78019799 [A/G] rs4461545 4 78022904 [A/G] rs4272042 4 78053975 [A/G] rs4518274 4 78069066 [T/C] rs6849534 4 78073655 [A/C] exm407987 4 78079695 [T/G] NM_004354 CCNG2 EXON Missense_L4V exm407990 4 78079721 [A/T] NM_004354 CCNG2 EXON Missense_H12Q exm407994 4 78079768 [A/G] NM_004354 CCNG2 EXON Missense_E28G exm408002 4 78081928 [A/G] NM_004354 CCNG2 EXON Missense_R111G exm408017 4 78082683 [A/G] NM_004354 CCNG2 EXON Missense_N193S exm408028 4 78085427 [A/G] NM_004354 CCNG2 EXON Missense_I236V exm408032 4 78085572 [A/G] NM_004354 CCNG2 EXON Missense_Y284C indel.81638 4 78085606 [D/I] NM_004354 CCNG2 EXON rs28503908 4 78106123 [T/C] rs11097730 4 78115334 [T/C] rs6840204 4 78121828 [A/G] rs4859756 4 78124348 [T/G] rs11937061 4 78136933 [T/G] rs1009141 4 78139160 [T/C] rs17581744 4 78141824 [A/C] rs10491462 4 78162739 [T/C] rs6835713 4 78168932 [T/G] rs4450960 4 78174854 [T/C] rs17643945 4 78194110 [T/C] rs11732260 4 78203795 [A/G] exm2265723 4 78205171 [A/G] rs17396361 4 78210296 [T/C] rs4859484 4 78211866 [A/G] rs6846129 4 78216136 [A/G] rs17002563 4 78229562 [T/C] rs4859782 4 78231196 [T/C] rs4859487 4 78237955 [A/G] rs11936421 4 78270126 [A/G] rs10023142 4 78271822 [T/G] rs1559121 4 78276420 [T/G] rs17002600 4 78291876 [A/G] rs17002607 4 78293321 [A/C] rs1806786 4 78307791 [T/C] rs1372784 4 78328101 [A/G] rs6533029 4 78329877 [A/G] rs1372786 4 78330433 [T/C] rs11931577 4 78335569 [T/C] rs13138737 4 78336408 [T/C] rs11726795 4 78339441 [A/G] rs6851181 4 78341476 [A/G] rs12649862 4 78343820 [A/G] rs17002676 4 78346794 [T/G] rs10020156 4 78349135 [T/C] rs1442696 4 78351064 [A/G] rs11939449 4 78356862 [T/C] rs6831175 4 78389293 [T/C] rs1596230 4 78396544 [A/G] rs17002700 4 78417537 [T/G] rs10518178 4 78419683 [T/C] exm2261761 4 78447144 [A/G] NM_006419 CXCL13 Silent rs1077234 4 78459361 [A/G] NM_006419 CXCL13 Silent rs1596231 4 78464698 [A/G] NM_006419 CXCL13 Silent rs355679 4 78478506 [T/G] NM_006419 CXCL13 Silent rs189587 4 78500085 [A/G] NM_006419 CXCL13 Silent rs355687 4 78505578 [T/C] NM_006419 CXCL13 Silent rs920666 4 78511203 [T/C] NM_006419 CXCL13 Silent exm408040 4 78527042 [T/C] NM_006419 CXCL13 EXON Missense_L8P exm408042 4 78527077 [A/G] NM_006419 CXCL13 EXON Missense_V20I exm408044 4 78528878 [T/C] NM_006419 CXCL13 EXON Missense_T29I exm408045 4 78528881 [A/G] NM_006419 CXCL13 EXON Missense_S30N variant.81640 4 78528940 [T/C] NM_006419 CXCL13 EXON Nonsense_R50X rs1566485 4 78542597 [A/C] rs2866442 4 78558585 [T/G] rs972755 4 78562040 [A/G] rs10009981 4 78598313 [T/C] exm408074 4 78650200 [A/G] NM_144571 CNOT6L EXON Missense_L354F rs17448771 4 78655778 [A/G] NM_144571 CNOT6L Silent exm408081 4 78669471 [T/G] NM_144571 CNOT6L EXON Synonymous_S186S exm408084 4 78669490 [T/C] NM_144571 CNOT6L EXON Missense_R180Q exm2241315 4 78678104 [A/G] NM_144571 CNOT6L EXON Synonymous_G134G rs17002804 4 78708696 [A/C] NM_144571 CNOT6L Silent rs4859878 4 78713254 [T/C] NM_144571 CNOT6L Silent exm2256737 4 78734563 [A/G] NM_144571 CNOT6L Silent rs1587563 4 78734563 [A/G] NM_144571 CNOT6L Silent rs1996740 4 78748977 [A/G] exm408100 4 78784013 [G/C] NM_020236 MRPL1 EXON Missense_A4G rs6827822 4 78784433 [T/C] NM_020236 MRPL1 Silent variant.81644 4 78792975 [T/C] NM_020236 MRPL1 EXON Nonsense_R37X exm408120 4 78804493 [A/G] NM_020236 MRPL1 EXON Missense_E81K variant.81645 4 78804659 [A/G] NM_020236 MRPL1 Silent variant.81646 4 78808447 [T/C] NM_020236 MRPL1 Silent exm408136 4 78815326 [A/G] NM_020236 MRPL1 EXON Missense_V198I exm408142 4 78830434 [G/C] NM_020236 MRPL1 EXON Missense_D229H indel.81648 4 78830467 [D/I] NM_020236 MRPL1 EXON exm408144 4 78830470 [T/C] NM_020236 MRPL1 EXON Missense_H241Y variant.81649 4 78830531 [A/G] NM_020236 MRPL1 Silent rs4859512 4 78840447 [T/C] NM_020236 MRPL1 Silent rs7439347 4 78841872 [T/G] NM_020236 MRPL1 Silent rs4577601 4 78858515 [A/G] NM_020236 MRPL1 Silent exm2274025 4 78871021 [C/G] NM_020236 MRPL1 EXON Missense_P283R rs7683766 4 78889868 [A/G] rs17450634 4 78909717 [A/G] rs6533374 4 78915841 [A/C] rs4859894 4 78918906 [T/C] rs12641050 4 78924968 [T/C] rs2036455 4 78934172 [A/G] rs11940556 4 78937771 [T/C] rs7667122 4 78947327 [T/C] rs1875649 4 78967046 [T/C] rs7656678 4 78970864 [T/C] rs7677984 4 78974867 [A/C] rs4859905 4 78987157 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_D32G,Missense_D32G rs873455 4 78989939 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs4591635 4 78991030 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs9284617 4 78992568 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs17002919 4 78996420 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs4241622 4 78997515 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs6843142 4 79002597 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs7699864 4 79023544 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs13130161 4 79033115 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs6845871 4 79048490 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs10518194 4 79083490 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs1996389 4 79118533 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs7695549 4 79120256 [A/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs17003043 4 79122800 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs10518188 4 79126005 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs2866993 4 79136032 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs11941469 4 79148953 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs11725082 4 79158128 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent exm408168 4 79158704 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_R50H,Missense_R50H exm408169 4 79158715 [G/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_D54H,Missense_D54H rs1869646 4 79163162 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent exm408175 4 79166397 [T/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_L76R,Missense_L76R exm408179 4 79166471 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_I101V,Missense_I101V exm408180 4 79166478 [A/T] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_E103V,Missense_E103V exm408182 4 79173573 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_C113R,Missense_C113R exm408185 4 79173607 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_R124Q,Missense_R124Q exm408186 4 79173616 [G/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_P127R,Missense_P127R rs10010118 4 79176094 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent exm408197 4 79176444 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_R173Q,Missense_R173Q exm408199 4 79176453 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_R176Q,Missense_R176Q rs12510741 4 79177408 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs1378240 4 79185019 [A/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent exm408203 4 79186200 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_P209S,Missense_P209S exm408204 4 79186216 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_P214L,Missense_P214L exm408206 4 79186257 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_Y228H,Missense_Y228H exm408207 4 79186260 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_E229K,Missense_E229K exm408210 4 79188027 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_I243V,Missense_I243V exm408213 4 79188076 [T/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_L259R,Missense_L259R exm408216 4 79188411 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_R269Q,Missense_R269Q exm408220 4 79188491 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_E296K,Missense_E296K exm408221 4 79188507 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_S301L,Missense_S301L exm408224 4 79188584 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_R327W,Missense_R327W exm408229 4 79202580 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_R367H,Missense_R367H exm408235 4 79205589 [A/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_S429Y,Missense_S429Y variant.81657 4 79205634 [T/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Nonsense_L444X,Nonsense_L444X rs6839334 4 79205752 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs967635 4 79207784 [T/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs1484344 4 79212910 [T/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs12511889 4 79222347 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs1385133 4 79231933 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs345518 4 79236212 [T/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent exm408257 4 79236838 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_M590T,Missense_M590T exm408258 4 79236852 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_G595S,Missense_G595S exm408263 4 79238620 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_R640C,Missense_R640C exm408264 4 79238636 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_F645S,Missense_F645S rs345514 4 79238649 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Synonymous_H649H,Synonymous_H649H exm408266 4 79238662 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_A654T,Missense_A654T exm408267 4 79239985 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_A661V,Missense_A661V exm408270 4 79240030 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_P676L,Missense_P676L exm408273 4 79240063 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_D687G,Missense_D687G exm408278 4 79240131 [A/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_I710L,Missense_I710L exm408279 4 79240135 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_C711Y,Missense_C711Y rs11724700 4 79245028 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs168282 4 79254058 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent exm408284 4 79258894 [T/A] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_H782L,Missense_H782L rs454598 4 79261745 [A/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs13123934 4 79262501 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs366463 4 79262696 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs2008485 4 79276588 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent exm-rs1268789 4 79280693 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs345545 4 79283643 [T/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent exm408288 4 79284694 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_A817V,Missense_A817V exm408290 4 79284759 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_G839R,Missense_G839R exm408296 4 79285146 [C/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_T887S,Missense_T887S variant.81661 4 79285205 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Nonsense_Q907X,Nonsense_Q907X rs6837091 4 79285958 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent exm408301 4 79291115 [A/T] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_D949V,Missense_D949V exm408302 4 79291130 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_T954M,Missense_T954M exm408305 4 79293925 [A/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_Q975K,Missense_Q975K exm408308 4 79293958 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_A986T,Missense_A986T exm408315 4 79295312 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_R1020C,Missense_R1020C exm408316 4 79295319 [A/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_K1022T,Missense_K1022T exm408317 4 79295322 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_G1023E,Missense_G1023E exm408320 4 79295403 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_T1050I,Missense_T1050I rs923019 4 79300173 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent exm408325 4 79300910 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_N1108S,Missense_N1108S exm408327 4 79300993 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_E1136K,Missense_E1136K exm408328 4 79300996 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_D1137N,Missense_D1137N exm408332 4 79301103 [A/T] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_D1172E,Missense_D1172E rs1471748 4 79303200 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs10033307 4 79304226 [T/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs17003174 4 79304598 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs869349 4 79307872 [T/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent exm408340 4 79308580 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_A1234T,Missense_A1234T variant.81668 4 79322046 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent exm408361 4 79328846 [T/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_A1387S,Missense_A1387S exm408362 4 79328847 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_A1387V,Missense_A1387V exm408368 4 79334148 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_T1445I,Missense_T1445I exm408370 4 79334160 [T/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_S1449I,Missense_S1449I exm408372 4 79334178 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_A1455V,Missense_A1455V rs1484334 4 79335148 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent rs1484332 4 79339332 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent variant.81669 4 79340102 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent indel.81670 4 79340215 [I/D] NM_025074,NM_001166133 FRAS1,FRAS1 EXON exm408377 4 79343055 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_R1527W,Missense_R1527W exm408378 4 79343101 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_R1542H,Missense_R1542H exm408379 4 79343110 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_P1545L,Missense_P1545L exm408381 4 79343124 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_L1550F,Missense_L1550F rs6825981 4 79346759 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 Silent,Silent exm408393 4 79351479 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_A1626V,Missense_A1626V exm408397 4 79351542 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_T1647I,Missense_T1647I exm408398 4 79351560 [T/C] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_P1653L,Missense_P1653L exm408408 4 79353587 [C/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_D1682E,Missense_D1682E exm408424 4 79360063 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_A1792T,Missense_A1792T exm408431 4 79366735 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Missense_V1909I,Missense_V1909I exm408441 4 79366891 [A/G] NM_025074,NM_001166133 FRAS1,FRAS1 EXON Silent,Missense_V1961I exm408442 4 79367886 [T/G] NM_025074 FRAS1 EXON Missense_K1954N exm408452 4 79368033 [T/C] NM_025074 FRAS1 EXON Synonymous_H2003H exm408457 4 79369320 [T/C] NM_025074 FRAS1 EXON Missense_P2042S exm2079886 4 79369333 [T/G] NM_025074 FRAS1 EXON Missense_G2046V indel.81672 4 79369389 [D/I] NM_025074 FRAS1 EXON exm408466 4 79371331 [T/C] NM_025074 FRAS1 EXON Missense_H2101Y exm408473 4 79371464 [A/G] NM_025074 FRAS1 EXON Missense_R2145Q exm408477 4 79372992 [T/C] NM_025074 FRAS1 EXON Missense_V2177A exm408478 4 79373031 [T/C] NM_025074 FRAS1 EXON Missense_S2190F exm408479 4 79373329 [A/G] NM_025074 FRAS1 EXON Missense_E2195G exm408481 4 79373353 [T/C] NM_025074 FRAS1 EXON Missense_T2203I exm408489 4 79373499 [A/G] NM_025074 FRAS1 EXON Missense_A2252T rs2627654 4 79378809 [A/G] NM_025074 FRAS1 Silent exm408495 4 79385640 [T/C] NM_025074 FRAS1 EXON Missense_S2311L rs6851427 4 79385719 [A/G] NM_025074 FRAS1 EXON Synonymous_A2337A exm408501 4 79387365 [A/G] NM_025074 FRAS1 EXON Missense_E2345K exm408502 4 79387371 [T/G] NM_025074 FRAS1 EXON Missense_V2347F exm408508 4 79387464 [A/G] NM_025074 FRAS1 EXON Missense_K2378E exm408509 4 79387495 [A/G] NM_025074 FRAS1 EXON Missense_S2388N exm408513 4 79387555 [A/G] NM_025074 FRAS1 EXON Missense_N2408S exm408514 4 79387570 [T/C] NM_025074 FRAS1 EXON Missense_I2413T indel.81676 4 79391131 [I/D] NM_025074 FRAS1 exm408529 4 79393413 [T/C] NM_025074 FRAS1 EXON Missense_T2484M exm408534 4 79394691 [A/G] NM_025074 FRAS1 EXON Missense_N2541S exm408536 4 79394702 [A/G] NM_025074 FRAS1 EXON Missense_D2545N exm408537 4 79394721 [A/G] NM_025074 FRAS1 EXON Missense_Q2551R indel.81678 4 79396614 [D/I] NM_025074 FRAS1 EXON exm2256738 4 79396667 [T/C] NM_025074 FRAS1 EXON Synonymous_I2586I exm408541 4 79396667 [T/C] NM_025074 FRAS1 EXON Synonymous_I2586I rs1995060 4 79398481 [T/C] NM_025074 FRAS1 Silent exm408548 4 79399029 [A/G] NM_025074 FRAS1 EXON Missense_V2638M variant.81679 4 79399216 [T/G] NM_025074 FRAS1 Silent exm408563 4 79400644 [A/G] NM_025074 FRAS1 EXON Missense_A2739T exm408570 4 79400786 [T/C] NM_025074 FRAS1 EXON Missense_A2786V exm408572 4 79400846 [T/C] NM_025074 FRAS1 EXON Missense_T2806M rs17409828 4 79402688 [A/G] NM_025074 FRAS1 Silent variant.81681 4 79403572 [T/C] NM_025074 FRAS1 EXON Nonsense_Q2879X exm408587 4 79403635 [A/G] NM_025074 FRAS1 EXON Missense_E2900K rs924149 4 79403747 [A/C] NM_025074 FRAS1 Silent exm2275756 4 79410122 [A/G] NM_025074 FRAS1 EXON Missense_Y2949C variant.81682 4 79410235 [A/G] NM_025074 FRAS1 Silent exm408620 4 79421055 [A/G] NM_025074 FRAS1 EXON Missense_R3099Q rs4975135 4 79422054 [A/G] NM_025074 FRAS1 Silent rs2867447 4 79422073 [A/G] NM_025074 FRAS1 Silent exm2079920 4 79428614 [A/G] NM_025074 FRAS1 EXON Missense_N3119S exm408626 4 79428704 [T/C] NM_025074 FRAS1 EXON Missense_T3149M exm408632 4 79429933 [A/G] NM_025074 FRAS1 EXON Missense_G3185R exm408642 4 79430104 [T/C] NM_025074 FRAS1 EXON Missense_R3242W variant.81685 4 79430162 [T/G] NM_025074 FRAS1 Silent exm408645 4 79432453 [A/G] NM_025074 FRAS1 EXON Missense_R3269Q exm408650 4 79432474 [T/C] NM_025074 FRAS1 EXON Missense_V3276A exm408651 4 79432500 [T/C] NM_025074 FRAS1 EXON Missense_H3285Y exm408652 4 79432602 [G/C] NM_025074 FRAS1 EXON Missense_Q3319E rs3792608 4 79434343 [A/G] NM_025074 FRAS1 Silent exm408664 4 79434685 [T/G] NM_025074 FRAS1 EXON Missense_Y3385D exm408665 4 79434692 [T/C] NM_025074 FRAS1 EXON Missense_L3387P exm408667 4 79434703 [T/C] NM_025074 FRAS1 EXON Missense_S3391P exm408669 4 79437009 [A/G] NM_025074 FRAS1 EXON Missense_D3411N exm408673 4 79437039 [T/C] NM_025074 FRAS1 EXON Nonsense_R3421X exm408676 4 79437090 [A/G] NM_025074 FRAS1 EXON Missense_V3438M rs6844368 4 79439935 [T/G] NM_025074 FRAS1 Silent exm2269780 4 79439935 [T/G] NM_025074 FRAS1 Silent exm408683 4 79440521 [A/G] NM_025074 FRAS1 EXON Missense_V3476M exm408686 4 79440634 [A/G] NM_025074 FRAS1 EXON Synonymous_T3513T exm408689 4 79442730 [A/G] NM_025074 FRAS1 EXON Missense_I3532V exm408690 4 79442734 [A/G] NM_025074 FRAS1 EXON Missense_R3533Q rs931605 4 79443837 [A/T] NM_025074 FRAS1 EXON Missense_E3561D exm408691 4 79443837 [A/T] NM_025074 FRAS1 EXON Missense_E3561D rs931606 4 79443850 [A/G] NM_025074 FRAS1 EXON Missense_V3566I exm408692 4 79443850 [A/G] NM_025074 FRAS1 EXON Missense_V3566I exm408693 4 79443878 [T/C] NM_025074 FRAS1 EXON Missense_I3575T variant.81689 4 79443902 [A/G] NM_025074 FRAS1 EXON Nonsense_W3583X exm408697 4 79447763 [T/C] NM_025074 FRAS1 EXON Missense_V3626A rs4975137 4 79450373 [A/G] NM_025074 FRAS1 Silent rs4975139 4 79455733 [T/C] NM_025074 FRAS1 EXON Synonymous_L3686L variant.81690 4 79458148 [A/G] NM_025074 FRAS1 Silent indel.81691 4 79458223 [I/D] NM_025074 FRAS1 EXON exm408710 4 79458283 [A/G] NM_025074 FRAS1 EXON Missense_I3743V exm408712 4 79458320 [T/C] NM_025074 FRAS1 EXON Missense_P3755L exm408713 4 79458330 [A/C] NM_025074 FRAS1 EXON Missense_H3758Q variant.81693 4 79458355 [A/G] NM_025074 FRAS1 Silent rs7689740 4 79458598 [A/G] NM_025074 FRAS1 Silent exm408715 4 79460455 [A/G] NM_025074 FRAS1 EXON Missense_N3769S exm408720 4 79461844 [A/G] NM_025074 FRAS1 EXON Missense_I3869V exm408728 4 79461956 [T/C] NM_025074 FRAS1 EXON Missense_I3906T exm408730 4 79461959 [T/G] NM_025074 FRAS1 EXON Missense_G3907V exm408733 4 79461979 [T/A] NM_025074 FRAS1 EXON Missense_M3914L indel.81695 4 79462002 [D/I] NM_025074 FRAS1 EXON exm408741 4 79462094 [T/C] NM_025074 FRAS1 EXON Missense_V3952A exm408743 4 79462120 [T/C] NM_025074 FRAS1 EXON Missense_R3961W exm408747 4 79462135 [A/G] NM_025074 FRAS1 EXON Missense_V3966M exm408748 4 79462146 [G/C] NM_025074 FRAS1 EXON Missense_H3969Q exm408750 4 79462184 [T/C] NM_025074 FRAS1 EXON Missense_P3982L rs3749482 4 79465559 [A/G] rs931602 4 79485876 [A/G] NM_005139 ANXA3 Silent rs6533780 4 79487060 [A/C] NM_005139 ANXA3 Silent exm408756 4 79494343 [T/C] NM_005139 ANXA3 EXON Nonsense_R9X newrs141337857 4 79494343 [T/C] NM_005139 ANXA3 EXON Nonsense_R9X indel.81697 4 79494345 [D/I] NM_005139 ANXA3 EXON exm408758 4 79494374 [A/G] NM_005139 ANXA3 EXON Missense_S19N exm408759 4 79494382 [A/G] NM_005139 ANXA3 EXON Missense_V22M exm408765 4 79500235 [A/G] NM_005139 ANXA3 EXON Missense_R53Q exm408768 4 79503349 [A/G] NM_005139 ANXA3 EXON Missense_K73E rs7656476 4 79505884 [T/C] NM_005139 ANXA3 Silent exm408773 4 79507418 [T/C] NM_005139 ANXA3 EXON Missense_A106V exm408776 4 79507429 [A/G] NM_005139 ANXA3 EXON Missense_E110K exm408784 4 79512733 [A/G] NM_005139 ANXA3 EXON Missense_E147K rs2867461 4 79513215 [A/G] NM_005139 ANXA3 Silent indel.81699 4 79516950 [D/I] NM_005139 ANXA3 EXON exm408789 4 79516954 [T/C] NM_005139 ANXA3 EXON Missense_Y183H exm408790 4 79516969 [A/G] NM_005139 ANXA3 EXON Missense_N188D exm408792 4 79518474 [A/G] NM_005139 ANXA3 EXON Synonymous_T212T exm408793 4 79518494 [A/T] NM_005139 ANXA3 EXON Missense_I219N exm2241321 4 79522682 [T/C] NM_005139 ANXA3 EXON Missense_T250M exm408796 4 79522685 [T/C] NM_005139 ANXA3 EXON Missense_P251L variant.81700 4 79525461 [T/C] NM_005139 ANXA3 EXON Nonsense_R274X variant.81701 4 79525503 [T/C] NM_005139 ANXA3 EXON Nonsense_R288X exm408803 4 79525504 [A/G] NM_005139 ANXA3 EXON Missense_R288Q rs5950 4 79531202 [T/C] NM_005139 ANXA3 Silent exm408808 4 79531211 [T/C] NM_005139 ANXA3 EXON Missense_S305L exm408810 4 79531235 [T/C] NM_005139 ANXA3 EXON Missense_I313T rs4612 4 79531308 [T/C] NM_005139 ANXA3 EXON Silent kgp10246569 4 79531381 [T/G] NM_005139 ANXA3 EXON Silent kgp2315131 4 79531553 [A/C] NM_005139 ANXA3 EXON Silent rs12643488 4 79546144 [A/G] rs11942573 4 79584433 [A/G] NR_038303,NR_038308,NR_038306,NR_038307,NR_038304,NR_038305 LOC100505702,LOC100505702,LOC100505702,LOC100505702,LOC100505702,LOC100505702 Silent,Silent,Silent,Silent,Silent,Silent rs10007186 4 79589045 [T/C] NR_038303,NR_038308,NR_038306,NR_038307,NR_038304,NR_038305 LOC100505702,LOC100505702,LOC100505702,LOC100505702,LOC100505702,LOC100505702 Silent,Silent,Silent,Silent,Silent,Silent rs7698993 4 79590729 [A/G] NR_038303,NR_038308,NR_038306,NR_038307,NR_038304,NR_038305 LOC100505702,LOC100505702,LOC100505702,LOC100505702,LOC100505702,LOC100505702 Silent,Silent,Silent,Silent,Silent,Silent rs4619914 4 79612009 [A/G] rs1834519 4 79616556 [T/C] exm2269935 4 79625240 [T/C] rs7694971 4 79629350 [T/G] rs12648219 4 79655286 [A/G] kgp1556648 4 79657372 [T/C] rs9992277 4 79661618 [A/G] exm408819 4 79747281 [A/G] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_N90S,Missense_N90S exm408827 4 79763578 [T/C] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_T148M,Missense_T148M exm408833 4 79766170 [T/A] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_D212V,Missense_D212V indel.81704 4 79766171 [D/I] NM_017593,NM_198892 BMP2K,BMP2K EXON exm408844 4 79772189 [T/C] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_R288C,Missense_R288C exm408845 4 79772190 [A/G] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_R288H,Missense_R288H exm408856 4 79786805 [A/C] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_T388P,Missense_T388P exm408859 4 79786856 [A/G] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_G405S,Missense_G405S exm2274026 4 79786864 [T/A] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_H407Q,Missense_H407Q exm2274027 4 79791939 [A/G] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_A412T,Missense_A412T exm2256741 4 79793788 [T/C] NM_017593,NM_198892 BMP2K,BMP2K EXON Synonymous_A543A,Synonymous_A543A exm408896 4 79793916 [T/C] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_V586A,Missense_V586A exm408898 4 79793944 [T/G] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_S595R,Missense_S595R exm408899 4 79793949 [A/G] NM_017593,NM_198892 BMP2K,BMP2K EXON Missense_N597S,Missense_N597S exm408912 4 79808400 [A/G] NM_198892 BMP2K EXON Missense_E675G exm408913 4 79808433 [A/G] NM_198892 BMP2K EXON Missense_H686R newrs181192715 4 79808439 [T/G] NM_198892 BMP2K Silent rs6830661 4 79813622 [T/C] NM_198892 BMP2K Silent rs17003488 4 79824233 [A/C] NM_198892 BMP2K Silent exm408915 4 79831772 [A/G] NM_198892 BMP2K EXON Missense_E691K exm408919 4 79831847 [T/C] NM_198892 BMP2K EXON Missense_P716S exm408921 4 79831866 [A/G] NM_198892 BMP2K EXON Missense_R722Q exm408931 4 79832163 [A/G] NM_198892 BMP2K EXON Missense_R821K exm408933 4 79832195 [G/C] NM_198892 BMP2K EXON Missense_L832V exm408934 4 79832279 [A/G] NM_198892 BMP2K EXON Missense_A860T exm2080018 4 79832486 [A/G] NM_198892 BMP2K EXON Missense_V929I rs7682647 4 79832815 [A/C] NM_198892 BMP2K EXON Synonymous_I1038I exm408953 4 79832960 [A/G] NM_198892 BMP2K EXON Missense_G1087S exm2276862 4 79833182 [C/G] NM_198892 BMP2K EXON Missense_Q1161E exm2273393 4 79841657 [T/C] NM_001040202 PAQR3 EXON Silent indel.81710 4 79841708 [I/D] NM_001040202 PAQR3 EXON rs13108247 4 79845007 [A/C] NM_001040202 PAQR3 Silent variant.81711 4 79845103 [T/C] NM_001040202 PAQR3 Silent exm408971 4 79847703 [T/C] NM_001040202 PAQR3 EXON Missense_N225S exm408980 4 79851379 [A/G] NM_001040202 PAQR3 EXON Missense_I150T indel.81713 4 79856424 [I/D] NM_001040202 PAQR3 EXON rs9993426 4 79875172 [A/C] exm2264096 4 79884416 [A/C] rs4975154 4 79904876 [T/C] NR_038342 LOC100505875 Silent rs1545805 4 79914407 [A/G] NR_038342 LOC100505875 Silent rs13133376 4 79915288 [A/G] NR_038342 LOC100505875 Silent rs1585920 4 79927368 [A/G] NR_038342 LOC100505875 Silent rs286479 4 79947170 [T/C] NR_038342 LOC100505875 Silent rs6852257 4 79957848 [T/C] NR_038342 LOC100505875 Silent exm-rs1455311 4 79964587 [A/G] NR_038342 LOC100505875 Silent rs2622351 4 79981840 [T/C] NR_038342 LOC100505875 Silent rs2604828 4 79983945 [T/G] NR_038342 LOC100505875 Silent rs2127782 4 79985443 [A/G] NR_038342 LOC100505875 Silent rs10518213 4 80008023 [T/C] NR_038342 LOC100505875 Silent rs1378376 4 80010684 [T/G] NR_038342 LOC100505875 Silent rs1378378 4 80034047 [T/C] NR_038342 LOC100505875 Silent rs10001729 4 80049788 [A/G] NR_038342 LOC100505875 Silent rs12648730 4 80059123 [A/G] NR_038342 LOC100505875 Silent rs11733517 4 80062229 [A/G] NR_038342 LOC100505875 Silent rs10518214 4 80085942 [T/C] NR_038342 LOC100505875 Silent rs7667438 4 80135060 [A/G] NR_038342 LOC100505875 Silent rs4975172 4 80146690 [A/G] NR_038342 LOC100505875 Silent rs11098609 4 80179372 [T/C] NR_038342 LOC100505875 Silent rs6534293 4 80202960 [A/G] NR_038342 LOC100505875 Silent rs968256 4 80208634 [A/C] NR_038342 LOC100505875 Silent exm2269782 4 80217741 [T/C] NR_038342 LOC100505875 Silent rs4401473 4 80226156 [A/C] NR_038342 LOC100505875 Silent rs1484140 4 80234648 [A/G] exm2274028 4 80246805 [A/G] NM_032693 NAA11 EXON Missense_A76V variant.81716 4 80246918 [T/C] NM_032693 NAA11 EXON Nonsense_W38X exm409021 4 80246977 [A/G] NM_032693 NAA11 EXON Missense_L19F variant.81717 4 80247013 [A/G] NM_032693 NAA11 EXON Nonsense_Q7X exm409023 4 80247016 [T/C] NM_032693 NAA11 EXON Missense_A6T rs11737437 4 80262521 [T/G] rs10004440 4 80272792 [A/G] rs10017376 4 80309825 [A/C] rs17003742 4 80313510 [A/G] rs6534361 4 80316079 [A/G] indel.81718 4 80327809 [D/I] NM_033214 GK2 EXON variant.81719 4 80327816 [T/C] NM_033214 GK2 EXON Nonsense_W513X variant.81720 4 80327881 [A/G] NM_033214 GK2 EXON Nonsense_Q492X exm409034 4 80327886 [T/C] NM_033214 GK2 EXON Missense_Q490R exm409035 4 80327899 [A/G] NM_033214 GK2 EXON Nonsense_R486X exm409036 4 80327944 [T/C] NM_033214 GK2 EXON Missense_V471I exm409038 4 80327962 [A/C] NM_033214 GK2 EXON Missense_A465S exm409041 4 80327982 [T/C] NM_033214 GK2 EXON Missense_G458E exm409047 4 80328037 [C/G] NM_033214 GK2 EXON Missense_D440H exm409048 4 80328063 [T/C] NM_033214 GK2 EXON Missense_N431S exm409053 4 80328141 [T/C] NM_033214 GK2 EXON Missense_R405Q exm2241327 4 80328142 [A/G] NM_033214 GK2 EXON Nonsense_R405X exm409054 4 80328188 [T/A] NM_033214 GK2 EXON Missense_K389N exm409060 4 80328366 [T/C] NM_033214 GK2 EXON Missense_R330H exm409064 4 80328483 [T/C] NM_033214 GK2 EXON Missense_R291H exm409065 4 80328519 [T/C] NM_033214 GK2 EXON Missense_Y279C exm409068 4 80328600 [A/G] NM_033214 GK2 EXON Missense_P252L exm409072 4 80328748 [T/C] NM_033214 GK2 EXON Missense_S203G exm409074 4 80328793 [G/C] NM_033214 GK2 EXON Missense_G188R exm409079 4 80328891 [T/C] NM_033214 GK2 EXON Missense_R155H exm409090 4 80329168 [T/A] NM_033214 GK2 EXON Missense_S63T variant.81726 4 80329180 [A/C] NM_033214 GK2 EXON Nonsense_E59X exm409094 4 80329257 [A/G] NM_033214 GK2 EXON Missense_A33V rs10049840 4 80332039 [A/C] rs3924829 4 80352632 [T/C] rs6838184 4 80365765 [A/C] rs10518219 4 80387141 [A/C] rs7687998 4 80390999 [T/G] rs10027646 4 80398708 [T/C] rs7691918 4 80416491 [T/C] NR_038826 LOC100506035 Silent rs11943366 4 80425028 [A/G] NR_038826 LOC100506035 Silent rs12507692 4 80461045 [T/C] NR_038826 LOC100506035 Silent rs13112577 4 80482400 [T/C] NR_038826 LOC100506035 Silent rs12501981 4 80513004 [T/C] rs11098778 4 80539001 [T/C] rs1371990 4 80545715 [T/C] rs3109166 4 80552199 [T/G] rs3111788 4 80554217 [T/C] rs6819600 4 80558107 [T/C] rs7696440 4 80566060 [A/G] exm2269783 4 80571936 [T/C] rs7340867 4 80575387 [A/G] rs4975062 4 80579291 [A/G] rs4975105 4 80588739 [T/C] rs13123790 4 80598796 [A/G] rs4286542 4 80601457 [T/G] rs17004052 4 80602627 [T/C] rs17447715 4 80602865 [A/G] rs4580675 4 80608250 [A/G] rs4547818 4 80609149 [A/G] rs13127915 4 80618658 [A/G] rs4362850 4 80636897 [A/C] rs7658299 4 80649730 [A/G] rs7694021 4 80656305 [A/G] rs9993154 4 80660974 [T/G] rs12510706 4 80661930 [T/C] rs3935850 4 80663590 [A/G] rs4447889 4 80672520 [A/C] rs13134009 4 80675751 [A/C] rs7665764 4 80681293 [A/G] rs4359935 4 80688131 [T/G] rs7673654 4 80696259 [A/G] rs4314227 4 80727235 [T/C] rs4632591 4 80735714 [T/C] rs4690145 4 80742791 [T/C] rs11098907 4 80745103 [A/C] rs4546189 4 80749973 [T/C] NR_026555 GDEP Silent rs13103568 4 80752362 [T/C] NR_026555 GDEP Silent rs10031299 4 80753792 [T/C] NR_026555 GDEP Silent rs7680943 4 80758914 [A/G] NR_026555 GDEP Silent rs10014970 4 80770939 [A/G] NR_026555 GDEP Silent rs6857026 4 80773461 [T/C] NR_026555 GDEP Silent rs4271959 4 80778464 [A/G] NR_026555 GDEP Silent rs11735728 4 80793114 [T/C] rs10011562 4 80799867 [A/G] rs11727192 4 80800327 [T/C] rs6534625 4 80809997 [A/G] rs6847975 4 80812960 [A/G] rs6534636 4 80816632 [A/G] rs11939401 4 80818417 [T/C] rs4264776 4 80821366 [T/C] rs6824433 4 80857151 [A/C] NM_058172 ANTXR2 Silent rs10033596 4 80887556 [T/G] NM_058172 ANTXR2 Silent exm409107 4 80898843 [T/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_A454T,Missense_A454T exm409110 4 80899172 [T/A] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_T446S,Missense_T446S variant.81729 4 80905061 [A/G] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Nonsense_R384X,Nonsense_R384X exm409118 4 80905112 [T/G] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_P367T,Missense_P367T rs4444771 4 80906131 [T/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 Silent,Silent rs12504282 4 80927001 [T/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 Silent,Silent rs4690135 4 80931982 [A/G] NM_058172,NM_001145794 ANTXR2,ANTXR2 Silent,Silent exm409127 4 80940081 [G/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_G306R,Missense_G306R rs4640621 4 80946541 [A/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 Silent,Silent rs12645809 4 80948670 [T/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 Silent,Silent exm-rs4333130 4 80949829 [T/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 Silent,Silent exm409130 4 80952835 [T/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_V270I,Missense_V270I exm409131 4 80952845 [A/G] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Synonymous_S266S,Synonymous_S266S exm409135 4 80957180 [T/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_A215T,Missense_A215T rs7667228 4 80959926 [T/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 Silent,Silent rs13110584 4 80972143 [T/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 Silent,Silent exm409147 4 80977133 [A/G] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_R111C,Missense_R111C exm409148 4 80977135 [T/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_K110R,Missense_K110R rs4308327 4 80978467 [A/G] NM_058172,NM_001145794 ANTXR2,ANTXR2 Silent,Silent exm-rs6839672 4 80993133 [A/G] NM_058172,NM_001145794 ANTXR2,ANTXR2 Silent,Silent rs6839672 4 80993133 [A/G] NM_058172,NM_001145794 ANTXR2,ANTXR2 Silent,Silent exm409156 4 80993618 [A/C] NM_058172,NM_001145794 ANTXR2,ANTXR2 EXON Missense_A33S,Missense_A33S rs7660651 4 81008844 [A/C] rs6847371 4 81018418 [A/G] rs7695893 4 81023146 [A/G] rs7657506 4 81028336 [T/C] exm2261764 4 81058566 [T/G] rs13119154 4 81069624 [A/G] rs13102102 4 81073672 [T/C] rs13138779 4 81087073 [A/G] rs3822010 4 81104548 [A/G] rs17530504 4 81109088 [T/C] NM_020226 PRDM8 Silent rs1458043 4 81113195 [T/C] NM_020226 PRDM8 Silent variant.81732 4 81122505 [A/C] NM_020226,NM_001099403 PRDM8,PRDM8 EXON Nonsense_S94X,Nonsense_S94X exm409172 4 81122552 [C/G] NM_020226,NM_001099403 PRDM8,PRDM8 EXON Missense_G110R,Missense_G110R exm409173 4 81122553 [G/C] NM_020226,NM_001099403 PRDM8,PRDM8 EXON Missense_G110A,Missense_G110A exm409233 4 81124319 [G/C] NM_020226,NM_001099403 PRDM8,PRDM8 EXON Missense_G568A,Missense_G568A exm2269784 4 81126083 [T/C] rs2168813 4 81126083 [T/C] rs6854711 4 81135131 [T/C] rs6824301 4 81149169 [A/G] rs11934116 4 81150109 [T/C] rs17004844 4 81152804 [A/G] rs17004846 4 81158221 [A/G] rs1458038 4 81164723 [T/C] rs12054583 4 81181388 [A/G] rs1379706 4 81183900 [T/G] exm-rs16998073 4 81184341 [T/A] exm409252 4 81188123 [A/G] NM_033143,NM_004464 FGF5,FGF5 EXON Missense_S49G,Missense_S49G exm409256 4 81188138 [A/G] NM_033143,NM_004464 FGF5,FGF5 EXON Missense_M54V,Missense_M54V exm409265 4 81188221 [T/G] NM_033143,NM_004464 FGF5,FGF5 EXON Missense_W81C,Missense_W81C exm409271 4 81188288 [T/C] NM_033143,NM_004464 FGF5,FGF5 EXON Missense_Y104H,Missense_Y104H exm409273 4 81196107 [T/C] NM_033143,NM_004464 FGF5,FGF5 EXON Silent,Nonsense_R134X exm409274 4 81196108 [A/G] NM_033143,NM_004464 FGF5,FGF5 EXON Silent,Missense_R134Q exm409278 4 81196155 [T/C] NM_033143,NM_004464 FGF5,FGF5 EXON Silent,Missense_L150F exm409280 4 81196158 [T/C] NM_033143,NM_004464 FGF5,FGF5 EXON Silent,Missense_H151Y rs6827834 4 81200645 [T/C] NM_033143,NM_004464 FGF5,FGF5 Silent,Silent exm409287 4 81207617 [T/C] NM_033143,NM_004464 FGF5,FGF5 EXON Silent,Nonsense_R200X exm409290 4 81207645 [A/G] NM_033143,NM_004464 FGF5,FGF5 EXON Silent,Missense_Q209R 1KG_4_81207686 4 81207686 [I/D] NM_033143,NM_004464 FGF5,FGF5 EXON exm409293 4 81207708 [T/C] NM_033143,NM_004464 FGF5,FGF5 EXON Silent,Missense_T230M exm409296 4 81207749 [A/G] NM_033143,NM_004464 FGF5,FGF5 EXON Silent,Missense_K244E rs11938301 4 81219975 [A/G] rs7664124 4 81227964 [A/G] rs7698854 4 81233244 [T/C] rs1458045 4 81254610 [T/G] exm409304 4 81283906 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent exm2241332 4 81283914 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_T40A,Missense_T40A rs17004886 4 81283916 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Synonymous_T40T,Synonymous_T40T exm409307 4 81283923 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_R43C,Missense_R43C rs6821676 4 81346212 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs17004900 4 81358030 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs11721676 4 81397872 [T/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs1039053 4 81402774 [A/C] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs11937407 4 81413618 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs10857170 4 81430314 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent exm2265725 4 81433856 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs11728439 4 81446625 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs13111397 4 81449030 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs11940032 4 81460931 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs11945984 4 81461715 [A/C] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs7666589 4 81488421 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent exm409315 4 81504291 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_T96M,Missense_T96M exm2080195 4 81504321 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_R106H,Missense_R106H exm409319 4 81504336 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_S111N,Missense_S111N exm2080198 4 81529518 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Silent,Missense_I122T rs1385890 4 81535393 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs1486025 4 81543568 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs16998198 4 81554785 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs17004962 4 81563339 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs3925214 4 81573178 [T/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs6830979 4 81580392 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs4693613 4 81587634 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs4693615 4 81589952 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs11734172 4 81648384 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent kgp6321109 4 81652435 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs11936472 4 81653826 [T/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs2903736 4 81703379 [A/C] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent kgp3617677 4 81704280 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs17004990 4 81708094 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs6849668 4 81764113 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs13131042 4 81773932 [A/C] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs13107344 4 81776186 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent exm409323 4 81791226 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_T138M,Missense_T155M variant.81736 4 81791291 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs34620960 4 81794590 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs960168 4 81802673 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs11736970 4 81821346 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs10007113 4 81829660 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent rs7655600 4 81841042 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent exm409330 4 81866010 [A/C] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_N175H,Missense_N192H rs11099454 4 81883741 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 Silent,Silent exm409332 4 81884672 [T/C] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_A203V,Missense_A220V exm409333 4 81884722 [A/G] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_V220I,Missense_V237I exm2080210 4 81884740 [T/G] NM_152770,NM_001206997 C4orf22,C4orf22 EXON Missense_D226Y,Missense_D243Y rs10011602 4 81899545 [A/G] rs7667446 4 81906024 [T/C] rs4458448 4 81927206 [T/C] rs17005022 4 81943313 [T/C] rs1353386 4 81947080 [A/C] exm409338 4 81952496 [A/G] NM_001201 BMP3 EXON Missense_A20T exm409347 4 81952592 [T/C] NM_001201 BMP3 EXON Missense_P52S exm409349 4 81952637 [T/A] NM_001201 BMP3 EXON Missense_Y67N exm409350 4 81952658 [T/C] NM_001201 BMP3 EXON Missense_R74W exm409364 4 81967101 [A/C] NM_001201 BMP3 EXON Missense_Q176K exm409365 4 81967102 [T/A] NM_001201 BMP3 EXON Missense_Q176L exm409372 4 81967188 [T/C] NM_001201 BMP3 EXON Missense_L205F exm409374 4 81967239 [A/G] NM_001201 BMP3 EXON Missense_T222A exm409375 4 81967240 [T/C] NM_001201 BMP3 EXON Missense_T222M exm409382 4 81967384 [T/C] NM_001201 BMP3 EXON Missense_V270A rs17005033 4 81967439 [A/G] NM_001201 BMP3 EXON Synonymous_K288K exm409390 4 81967542 [A/C] NM_001201 BMP3 EXON Missense_T323P exm409392 4 81967606 [A/G] NM_001201 BMP3 EXON Missense_R344Q exm409395 4 81967618 [T/C] NM_001201 BMP3 EXON Missense_T348M exm409402 4 81967779 [C/G] NM_001201 BMP3 EXON Missense_A402P exm409409 4 81974620 [A/T] NM_001201 BMP3 EXON Missense_F450Y rs10007784 4 81977690 [T/C] NM_001201 BMP3 EXON Silent exm2265726 4 81981592 [A/G] rs2685462 4 81996925 [A/G] rs3796804 4 82009707 [T/G] rs2868132 4 82012206 [A/G] NM_006259 PRKG2 Silent exm409415 4 82013569 [G/C] NM_006259 PRKG2 EXON Missense_R722G var_4_82025519 4 82025519 [T/C] NM_006259 PRKG2 Silent var_4_82027001 4 82027001 [A/G] NM_006259 PRKG2 EXON Nonsense_R677X rs7675843 4 82035067 [T/C] NM_006259 PRKG2 Silent rs11945501 4 82042343 [A/G] NM_006259 PRKG2 Silent exm2261765 4 82046984 [A/C] NM_006259 PRKG2 Silent exm409437 4 82058629 [A/G] NM_006259 PRKG2 EXON Missense_R518C exm409462 4 82073180 [T/C] NM_006259 PRKG2 EXON Missense_H340R rs9992933 4 82092967 [T/C] NM_006259 PRKG2 Silent rs1972127 4 82094069 [A/G] NM_006259 PRKG2 Silent exm409477 4 82095964 [T/C] NM_006259 PRKG2 EXON Missense_H204R exm409479 4 82096035 [T/C] NM_006259 PRKG2 EXON Missense_M180I rs3733553 4 82114503 [T/C] NM_006259 PRKG2 Silent rs6849299 4 82118996 [A/G] NM_006259 PRKG2 Silent exm409483 4 82125924 [A/G] NM_006259 PRKG2 EXON Missense_P93L exm409489 4 82126062 [T/C] NM_006259 PRKG2 EXON Missense_R47Q exm409493 4 82126123 [A/G] NM_006259 PRKG2 EXON Missense_R27W exm409494 4 82126134 [C/G] NM_006259 PRKG2 EXON Missense_T23S exm409496 4 82126147 [T/C] NM_006259 PRKG2 EXON Missense_G19R exm409499 4 82126173 [T/C] NM_006259 PRKG2 EXON Missense_H10R var_4_82126215 4 82126215 [A/C] NM_006259 PRKG2 EXON Silent rs710839 4 82134787 [T/C] rs17005096 4 82149016 [T/C] exm-rs710841 4 82149831 [T/C] rs1712374 4 82154710 [T/C] rs994014 4 82165790 [T/C] rs6535239 4 82192994 [A/G] rs2034629 4 82226349 [A/G] rs10028430 4 82235733 [T/C] rs7681976 4 82241612 [T/C] rs1452373 4 82284055 [T/C] rs11723619 4 82287755 [T/G] rs6535244 4 82290018 [T/G] rs17005123 4 82315470 [A/C] rs10028610 4 82318524 [A/G] exm2265850 4 82318524 [A/G] rs1037405 4 82347502 [A/G] rs2159657 4 82355593 [A/G] NM_152545 RASGEF1B Silent exm409505 4 82355804 [T/C] NM_152545 RASGEF1B EXON Missense_V397I exm409510 4 82362055 [T/C] NM_152545 RASGEF1B EXON Missense_Y346C exm409511 4 82362065 [T/C] NM_152545 RASGEF1B EXON Missense_S343G variant.81741 4 82363504 [A/G] NM_152545 RASGEF1B EXON Nonsense_R319X rs6839120 4 82365496 [A/G] NM_152545 RASGEF1B Silent exm409524 4 82368723 [T/C] NM_152545 RASGEF1B EXON Missense_N222D exm409532 4 82369230 [A/G] NM_152545 RASGEF1B EXON Missense_I216T rs1444891 4 82376621 [T/C] NM_152545 RASGEF1B Silent variant.81743 4 82378721 [A/C] NM_152545 RASGEF1B EXON Nonsense_E78X variant.81744 4 82380486 [A/G] NM_152545 RASGEF1B EXON Synonymous_D59D exm409561 4 82380597 [A/C] NM_152545 RASGEF1B EXON Missense_Q22H exm409565 4 82380669 [T/C] NM_152545 RASGEF1B Silent rs895086 4 82381313 [A/G] NM_152545 RASGEF1B Silent rs7670580 4 82382526 [T/G] NM_152545 RASGEF1B Silent rs10015146 4 82401332 [T/C] rs11939325 4 82417143 [T/C] rs2166181 4 82422327 [A/G] rs13147840 4 82429283 [A/G] rs882043 4 82430252 [A/C] rs17005153 4 82432524 [A/G] rs1011631 4 82440730 [T/C] rs1348601 4 82452878 [T/G] rs10019003 4 82452933 [T/C] rs1373637 4 82473932 [T/C] rs9307785 4 82482584 [A/G] rs10022264 4 82484170 [T/C] rs10033009 4 82492363 [T/C] rs10033652 4 82493067 [T/C] rs6535261 4 82519643 [A/G] rs11933681 4 82547364 [A/G] rs7657174 4 82556945 [T/G] rs10434096 4 82569389 [A/G] rs11099493 4 82587050 [A/G] rs4074490 4 82597792 [A/C] rs9985504 4 82602057 [T/C] rs9992825 4 82619170 [A/G] rs4401444 4 82620131 [A/C] exm2264058 4 82620131 [A/C] rs1353663 4 82659400 [A/G] rs1497784 4 82659919 [T/C] rs7676794 4 82664674 [A/G] rs6819863 4 82667620 [T/C] rs6535279 4 82677938 [T/G] rs7696872 4 82687275 [A/G] rs4693005 4 82687523 [A/G] rs523329 4 82720331 [T/C] rs751104 4 82723964 [T/G] rs515108 4 82730697 [T/C] rs17570404 4 82744243 [T/C] rs4566646 4 82744299 [A/G] rs685815 4 82752721 [T/G] rs583138 4 82766046 [A/G] rs7653998 4 82767175 [A/G] rs666149 4 82773619 [T/C] rs667443 4 82779892 [T/C] rs10002393 4 82786911 [T/C] rs7663795 4 82812093 [A/G] rs2199487 4 82820008 [A/G] rs7673236 4 82825171 [T/C] rs1982618 4 82835295 [T/G] rs4693011 4 82843061 [T/C] rs10516668 4 82843970 [A/G] exm2265727 4 82862484 [A/G] rs2120368 4 82865191 [T/C] rs320754 4 82875045 [A/C] rs6838368 4 82896567 [T/C] rs11099514 4 82896862 [A/G] rs17515274 4 82905378 [A/G] rs1443785 4 82910126 [T/C] rs13109155 4 82915079 [A/G] rs7678127 4 82928877 [A/G] rs6814999 4 82932359 [T/C] rs1443771 4 82953110 [A/G] rs1470338 4 82955013 [A/G] rs4693416 4 82956948 [T/C] rs7664786 4 82977205 [T/C] rs2131361 4 82980833 [T/G] rs1373238 4 82981940 [T/G] rs4693421 4 83019396 [T/C] rs10009173 4 83029942 [T/C] rs7677948 4 83044475 [A/G] rs11943170 4 83045736 [A/G] rs6825436 4 83085123 [T/C] rs13116695 4 83094251 [A/G] rs2101680 4 83096524 [T/C] rs10019349 4 83102836 [T/C] rs1389044 4 83114530 [T/C] rs2035910 4 83115166 [A/C] rs4693432 4 83116329 [T/G] rs7660665 4 83164184 [A/G] rs2114693 4 83170172 [T/C] rs7678274 4 83171331 [T/C] rs17005556 4 83188821 [T/C] rs7692570 4 83209493 [T/C] rs17005574 4 83210000 [A/G] rs6822283 4 83218230 [T/C] rs1116664 4 83237661 [T/G] rs3762885 4 83305278 [T/G] rs6843699 4 83309685 [A/G] rs2004987 4 83319611 [T/C] rs17005633 4 83321808 [T/C] rs13125359 4 83325574 [A/G] rs11737188 4 83343745 [T/C] NR_003249,NM_001207000,NM_031372 HNRPDL,HNRPDL,HNRPDL EXON Silent,Silent,Silent exm409597 4 83347225 [T/G] NR_003249,NM_001207000,NM_031372 HNRPDL,HNRPDL,HNRPDL EXON Silent,Missense_Y360S,Missense_Y417S exm2274029 4 83347711 [C/G] NR_003249,NM_001207000,NM_031372 HNRPDL,HNRPDL,HNRPDL EXON Silent,Silent,Missense_G366A var_4_83349600 4 83349600 [T/C] NR_003249,NM_001207000,NM_031372 HNRPDL,HNRPDL,HNRPDL Silent,Silent,Silent exm409621 4 83350488 [A/G] NR_003249,NM_001207000,NM_031372 HNRPDL,HNRPDL,HNRPDL EXON Silent,Missense_T119I,Missense_T119I exm409638 4 83350596 [A/G] NR_003249,NM_001207000,NM_031372 HNRPDL,HNRPDL,HNRPDL EXON Silent,Missense_P83L,Missense_P83L rs8732 4 83351821 [A/G] NM_021204 ENOPH1 EXON Silent rs1878494 4 83362192 [A/G] NM_021204 ENOPH1 Silent rs1113576 4 83368980 [T/C] NM_021204 ENOPH1 Silent exm409652 4 83372208 [A/G] NM_021204 ENOPH1 EXON Missense_A67T exm409659 4 83375978 [A/G] NM_021204 ENOPH1 EXON Missense_G165R exm409662 4 83378168 [A/T] NM_021204 ENOPH1 EXON Nonsense_L208X rs11929894 4 83379826 [T/C] NM_021204 ENOPH1 Silent exm2269785 4 83403563 [T/G] rs6818677 4 83405383 [T/C] exm409673 4 83406740 [A/G] NM_001080506 TMEM150C EXON Missense_S225F exm409674 4 83411215 [A/G] NM_001080506 TMEM150C EXON Synonymous_L180L exm409677 4 83411309 [A/G] NM_001080506 TMEM150C EXON Missense_A149V exm409678 4 83411339 [A/G] NM_001080506 TMEM150C EXON Missense_F139S exm409679 4 83411364 [T/C] NM_001080506 TMEM150C EXON Missense_V131I exm409680 4 83417321 [A/G] NM_001080506 TMEM150C EXON Missense_I88T exm409683 4 83417333 [A/G] NM_001080506 TMEM150C EXON Missense_V84A exm409685 4 83417347 [A/G] NM_001080506 TMEM150C EXON Synonymous_A79A rs10003787 4 83421440 [T/G] NM_001080506 TMEM150C Silent exm409697 4 83425789 [T/C] NM_001080506 TMEM150C EXON Missense_V8I rs10016201 4 83431048 [T/G] NM_001080506 TMEM150C Silent rs6828071 4 83431790 [T/C] NM_001080506 TMEM150C Silent rs17005759 4 83446505 [T/C] NM_001080506 TMEM150C Silent rs4693454 4 83448764 [A/G] NM_001080506 TMEM150C Silent rs1316596 4 83451071 [A/G] NM_001080506 TMEM150C Silent exm2265851 4 83462759 [A/G] NM_001080506 TMEM150C Silent rs4693458 4 83485723 [T/G] exm-rs7658637 4 83499313 [T/C] rs4693460 4 83503020 [A/C] rs11723799 4 83507794 [T/G] rs12645956 4 83527257 [A/G] rs17005836 4 83527733 [A/C] rs1065403 4 83551119 [T/C] NM_001037582 SCD5 EXON Silent exm409705 4 83552538 [T/C] NM_001037582 SCD5 EXON Missense_R312Q exm409708 4 83552545 [A/G] NM_001037582 SCD5 EXON Missense_R310C rs7672297 4 83554880 [T/G] NM_001037582 SCD5 Silent rs1506606 4 83564114 [A/G] NM_001037582 SCD5 Silent rs996465 4 83564947 [A/C] NM_001037582 SCD5 Silent exm409725 4 83582064 [T/G] NM_001037582,NM_024906 SCD5,SCD5 EXON Silent,Missense_L246M exm409727 4 83582077 [G/C] NM_001037582,NM_024906 SCD5,SCD5 EXON Silent,Missense_K241N exm409734 4 83582211 [G/C] NM_001037582,NM_024906 SCD5,SCD5 EXON Silent,Missense_E197Q exm409735 4 83582228 [A/G] NM_001037582,NM_024906 SCD5,SCD5 EXON Silent,Missense_T191I rs2135507 4 83586671 [T/C] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs6811012 4 83590099 [T/C] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs10030631 4 83596745 [T/C] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs7689308 4 83597815 [A/C] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs7695607 4 83598784 [T/C] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent exm409736 4 83601861 [T/C] NM_001037582,NM_024906 SCD5,SCD5 EXON Missense_K190E,Missense_N190D newrs115277044 4 83601936 [A/G] NM_001037582,NM_024906 SCD5,SCD5 EXON Nonsense_R165X,Nonsense_R165X variant.81756 4 83601955 [T/C] NM_001037582,NM_024906 SCD5,SCD5 EXON Nonsense_W158X,Nonsense_W158X exm409740 4 83601977 [A/C] NM_001037582,NM_024906 SCD5,SCD5 EXON Missense_F151C,Missense_F151C exm409741 4 83602010 [A/G] NM_001037582,NM_024906 SCD5,SCD5 EXON Missense_T140M,Missense_T140M rs2276883 4 83602150 [T/C] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs953534 4 83617849 [A/C] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs1876218 4 83626382 [A/C] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs4693496 4 83637368 [A/G] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent exm2269786 4 83643150 [T/G] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs1358055 4 83648552 [A/G] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs10009661 4 83649829 [T/C] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs17351781 4 83653670 [A/G] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs6822001 4 83653968 [T/C] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs4693052 4 83654463 [T/C] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs11733801 4 83659628 [T/G] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs4626189 4 83659974 [T/C] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs13148235 4 83668072 [T/C] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs17006278 4 83672163 [T/C] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs13139428 4 83673572 [T/G] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs11729909 4 83682200 [A/G] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent rs11099549 4 83697854 [T/C] NM_001037582,NM_024906 SCD5,SCD5 Silent,Silent exm409766 4 83719593 [A/G] NM_001037582,NM_024906 SCD5,SCD5 EXON Missense_P33L,Missense_P33L exm409768 4 83719605 [T/C] NM_001037582,NM_024906 SCD5,SCD5 EXON Missense_G29D,Missense_G29D rs4235052 4 83733766 [A/G] exm409773 4 83740367 [T/C] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_R1175G,Missense_R1136G,Missense_R1061G,Missense_R1155G,Missense_R1175G,Missense_R1160G exm409784 4 83748617 [T/C] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_V1066I,Missense_V1027I,Missense_V952I,Missense_V1046I,Missense_V1066I,Missense_V1051I exm409786 4 83748647 [A/G] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_H1056Y,Missense_H1017Y,Missense_H942Y,Missense_H1036Y,Missense_H1056Y,Missense_H1041Y exm409787 4 83748650 [T/G] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_P1055T,Missense_P1016T,Missense_P941T,Missense_P1035T,Missense_P1055T,Missense_P1040T exm409789 4 83748721 [A/G] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_P1031L,Missense_P992L,Missense_P917L,Missense_P1011L,Missense_P1031L,Missense_P1016L rs1136882 4 83758827 [T/C] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A Silent,Silent,Silent,Silent,Silent,Silent exm409800 4 83763292 [A/C] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A Silent,Silent,Silent,Silent,Silent,Silent exm409811 4 83763428 [A/G] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_P945S,Missense_P906S,Silent,Missense_P940S,Missense_P945S,Missense_P945S variant.81758 4 83765534 [T/C] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A Silent,Silent,Silent,Silent,Silent,Silent exm409825 4 83765598 [T/G] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_Q856P,Missense_Q817P,Missense_Q856P,Missense_Q851P,Missense_Q856P,Missense_Q856P exm409826 4 83765605 [A/C] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_A854S,Missense_A815S,Missense_A854S,Missense_A849S,Missense_A854S,Missense_A854S exm409827 4 83765632 [T/C] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_M845V,Missense_M806V,Missense_M845V,Missense_M840V,Missense_M845V,Missense_M845V exm409829 4 83765643 [A/G] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_P841L,Missense_P802L,Missense_P841L,Missense_P836L,Missense_P841L,Missense_P841L exm409833 4 83770027 [T/C] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_K811R,Missense_K772R,Missense_K811R,Missense_K806R,Missense_K811R,Missense_K811R variant.81759 4 83774792 [T/C] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Synonymous_A695A,Synonymous_A656A,Synonymous_A695A,Synonymous_A690A,Synonymous_A695A,Synonymous_A695A rs7658703 4 83778839 [T/C] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A Silent,Silent,Silent,Silent,Silent,Silent variant.81760 4 83778840 [A/G] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A Silent,Silent,Silent,Silent,Silent,Silent exm409871 4 83782827 [A/T] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_D528V,Silent,Missense_D528V,Missense_D523V,Missense_D528V,Missense_D528V exm409880 4 83784496 [T/A] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_Y495F,Missense_Y495F,Missense_Y495F,Missense_Y490F,Missense_Y495F,Missense_Y495F exm409883 4 83784534 [A/C] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_E482D,Missense_E482D,Missense_E482D,Missense_E477D,Missense_E482D,Missense_E482D exm409889 4 83785581 [A/C] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_N456K,Missense_N456K,Missense_N456K,Missense_N451K,Missense_N456K,Missense_N456K exm409890 4 83785627 [T/C] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_R441Q,Missense_R441Q,Missense_R441Q,Missense_R436Q,Missense_R441Q,Missense_R441Q exm409897 4 83788022 [A/G] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_I379T,Missense_I379T,Missense_I379T,Missense_I374T,Missense_I379T,Missense_I379T exm409904 4 83788444 [T/G] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_T303K,Missense_T303K,Missense_T303K,Missense_T298K,Missense_T303K,Missense_T303K exm409906 4 83791494 [T/C] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_N289S,Missense_N289S,Missense_N289S,Missense_N284S,Missense_N289S,Missense_N289S rs3762901 4 83791959 [T/G] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A Silent,Silent,Silent,Silent,Silent,Silent newrs140560088 4 83800072 [T/C] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Synonymous_K71K,Synonymous_K71K,Synonymous_K71K,Synonymous_K66K,Synonymous_K71K,Synonymous_K71K rs7656058 4 83800428 [A/G] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A Silent,Silent,Silent,Silent,Silent,Silent exm409940 4 83803070 [T/C] NM_014933,NM_016211,NM_001077206,NM_001191049,NM_001077207,NM_001077208 SEC31A,SEC31A,SEC31A,SEC31A,SEC31A,SEC31A EXON Missense_D7G,Missense_D7G,Missense_D7G,Silent,Missense_D7G,Missense_D7G exm409958 4 83827601 [T/C] NM_024672 THAP9 EXON Missense_I134T indel.81767 4 83827658 [I/D] NM_024672 THAP9 EXON variant.81768 4 83827765 [T/C] NM_024672 THAP9 EXON Nonsense_R189X exm2080580 4 83838159 [A/G] NM_024672 THAP9 EXON Missense_R265Q exm409975 4 83838217 [A/G] NM_024672 THAP9 EXON Missense_M284I indel.81774 4 83838223 [D/I] NM_024672 THAP9 EXON exm409976 4 83838262 [T/G] NM_024672 THAP9 EXON Missense_L299F rs897945 4 83838262 [T/G] NM_024672 THAP9 EXON Missense_L299F exm409978 4 83838339 [T/C] NM_024672 THAP9 EXON Missense_M325T exm2080584 4 83838420 [A/C] NM_024672 THAP9 EXON Missense_Q352P indel.81775 4 83838522 [D/I] NM_024672 THAP9 EXON newrs143151761 4 83838587 [T/C] NM_024672 THAP9 EXON Nonsense_Q408X exm409995 4 83838646 [G/C] NM_024672 THAP9 EXON Missense_Q427H exm409999 4 83838777 [A/C] NM_024672 THAP9 EXON Missense_H471P exm410017 4 83839352 [A/G] NM_024672 THAP9 EXON Missense_I663V exm410019 4 83839374 [A/C] NM_024672 THAP9 EXON Missense_A670E exm2275333 4 83839433 [T/G] NM_024672 THAP9 EXON Nonsense_E690X exm410024 4 83839448 [A/G] NM_024672 THAP9 EXON Missense_D695N variant.81778 4 83839502 [T/C] NM_024672 THAP9 EXON Nonsense_R713X exm410030 4 83839631 [A/G] NM_024672 THAP9 EXON Missense_K756E exm410032 4 83839662 [A/G] NM_024672 THAP9 EXON Missense_E766G exm410036 4 83839799 [A/G] NM_024672 THAP9 EXON Missense_N812D exm2080592 4 83839842 [T/G] NM_024672 THAP9 EXON Missense_V826G exm410038 4 83839862 [A/G] NM_024672 THAP9 EXON Missense_V833I exm410072 4 83861082 [T/C] NM_001115008,NM_194282,NM_001115007 LIN54,LIN54,LIN54 EXON Missense_R180Q,Missense_R401Q,Missense_R180Q exm410074 4 83861100 [A/G] NM_001115008,NM_194282,NM_001115007 LIN54,LIN54,LIN54 EXON Missense_V174A,Missense_V395A,Missense_V174A exm410079 4 83867599 [G/C] NM_001115008,NM_194282,NM_001115007 LIN54,LIN54,LIN54 EXON Missense_T106S,Missense_T327S,Missense_T106S rs11938691 4 83873373 [A/G] NM_001115008,NM_194282,NM_001115007 LIN54,LIN54,LIN54 Silent,Silent,Silent exm410085 4 83891596 [T/C] NM_001115008,NM_194282,NM_001115007 LIN54,LIN54,LIN54 EXON Missense_G58R,Missense_G279R,Missense_G58R rs10000180 4 83899764 [A/G] NM_001115008,NM_194282,NM_001115007 LIN54,LIN54,LIN54 Silent,Silent,Silent rs1020750 4 83903849 [A/G] NM_001115008,NM_194282,NM_001115007 LIN54,LIN54,LIN54 Silent,Silent,Silent exm410091 4 83905412 [T/G] NM_001115008,NM_194282,NM_001115007 LIN54,LIN54,LIN54 EXON Silent,Missense_P196T,Silent exm2080618 4 83905517 [T/G] NM_001115008,NM_194282,NM_001115007 LIN54,LIN54,LIN54 EXON Silent,Missense_L161I,Silent variant.81781 4 83905872 [T/C] NM_001115008,NM_194282,NM_001115007 LIN54,LIN54,LIN54 EXON Silent,Synonymous_T42T,Silent rs6847544 4 83911526 [T/G] NM_001115008,NM_194282,NM_001115007 LIN54,LIN54,LIN54 Silent,Silent,Silent exm410107 4 83956388 [T/C] NM_016129,NM_001258006 COPS4,COPS4 EXON Missense_A4V,Missense_A4V variant.81782 4 83966858 [A/G] NM_016129,NM_001258006 COPS4,COPS4 EXON Missense_M52V,Missense_M52V exm410135 4 83987668 [G/C] NM_016129,NM_001258006 COPS4,COPS4 EXON Missense_E322Q,Missense_E322Q exm2261768 4 83991529 [A/C] NM_016129,NM_001258006 COPS4,COPS4 Silent,Silent rs11099569 4 84013509 [T/G] NM_016619,NM_001130716 PLAC8,PLAC8 Silent,Silent exm410145 4 84015850 [T/C] NM_016619,NM_001130716,NM_001130715 PLAC8,PLAC8,PLAC8 EXON Missense_R113H,Missense_R113H,Missense_R113H rs7692926 4 84017945 [T/C] NM_016619,NM_001130716,NM_001130715 PLAC8,PLAC8,PLAC8 Silent,Silent,Silent rs7688441 4 84026991 [T/C] NM_016619,NM_001130716,NM_001130715 PLAC8,PLAC8,PLAC8 Silent,Silent,Silent exm2080670 4 84029102 [A/G] NM_016619,NM_001130716,NM_001130715 PLAC8,PLAC8,PLAC8 EXON Silent,Silent,Silent rs12510343 4 84053945 [T/G] rs2868752 4 84058227 [A/C] rs10516683 4 84074826 [A/G] rs7673451 4 84091444 [T/C] rs2903913 4 84123698 [T/C] rs10033388 4 84131775 [A/G] rs6854272 4 84140400 [T/C] rs11942687 4 84145617 [T/C] rs13122305 4 84152973 [A/G] rs6840620 4 84153610 [T/C] rs4396979 4 84168653 [T/C] rs4346637 4 84175235 [A/C] rs10002954 4 84177179 [A/G] rs10021552 4 84182602 [T/G] indel.81784 4 84185433 [I/D] NM_015697 COQ2 EXON exm410159 4 84185440 [A/G] NM_015697 COQ2 EXON Missense_V393A exm410168 4 84188881 [T/C] NM_015697 COQ2 EXON Missense_R320Q exm410180 4 84194697 [T/C] NM_015697 COQ2 EXON Missense_G215E exm410183 4 84194754 [T/C] NM_015697 COQ2 EXON Missense_N196S exm410184 4 84194767 [T/C] NM_015697 COQ2 EXON Missense_T192A indel.81786 4 84200127 [I/D] NM_015697 COQ2 EXON variant.81787 4 84200260 [T/C] NM_015697 COQ2 EXON Nonsense_W137X exm410201 4 84206004 [A/T] NM_015697 COQ2 EXON Nonsense_R22X exm410208 4 84216580 [A/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_R459W,Missense_R517W,Missense_R517W,Missense_R443W exm410210 4 84216649 [A/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Nonsense_Q436X,Nonsense_Q494X,Nonsense_Q494X,Nonsense_Q420X rs10025120 4 84216941 [A/C] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE Silent,Silent,Silent,Silent rs9307824 4 84220612 [T/C] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE Silent,Silent,Silent,Silent exm410214 4 84222157 [A/C] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_D418E,Missense_D476E,Missense_D476E,Missense_D402E variant.81791 4 84222260 [T/C] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE Silent,Silent,Silent,Silent indel.81792 4 84223311 [I/D] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON exm410220 4 84223321 [T/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_H378P,Missense_H436P,Missense_H436P,Missense_H362P exm410221 4 84223334 [A/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Nonsense_R374X,Nonsense_R432X,Nonsense_R432X,Nonsense_R358X exm410229 4 84227441 [T/C] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_R316Q,Missense_R374Q,Missense_R374Q,Silent exm410230 4 84227453 [T/C] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_G312D,Missense_G370D,Missense_G370D,Silent indel.81796 4 84230604 [I/D] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON exm410239 4 84230619 [T/C] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_K249R,Missense_K307R,Missense_K307R,Missense_K307R exm410252 4 84232010 [A/C] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_F178C,Missense_F236C,Missense_F236C,Missense_F236C exm410253 4 84232019 [C/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_A175G,Missense_A233G,Missense_A233G,Missense_A233G exm410254 4 84232029 [C/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_L172V,Missense_L230V,Missense_L230V,Missense_L230V rs6535458 4 84233449 [T/C] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE Silent,Silent,Silent,Silent variant.81798 4 84234343 [T/C] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Silent,Nonsense_W199X,Nonsense_W199X,Nonsense_W199X exm410263 4 84234410 [C/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Silent,Missense_A177G,Missense_A177G,Missense_A177G exm2080732 4 84240515 [T/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Missense_K161Q,Missense_K161Q,Missense_K161Q,Missense_K161Q variant.81799 4 84240539 [A/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE EXON Nonsense_R153X,Nonsense_R153X,Nonsense_R153X,Nonsense_R153X rs4693608 4 84241357 [A/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE Silent,Silent,Silent,Silent rs7670729 4 84246090 [A/G] NM_001199830,NM_006665,NM_001098540,NM_001166498 HPSE,HPSE,HPSE,HPSE Silent,Silent,Silent,Silent rs4693614 4 84260521 [A/G] rs11932833 4 84272944 [T/G] rs10004897 4 84312759 [A/G] exm410296 4 84328632 [T/C] NM_133636 HELQ EXON Missense_V1094M rs17006794 4 84328632 [T/C] NM_133636 HELQ EXON Missense_V1094M exm410297 4 84328635 [T/C] NM_133636 HELQ EXON Missense_A1093T exm410302 4 84337916 [A/G] NM_133636 HELQ EXON Missense_R1056C var_4_84337986 4 84337987 [I/D] NM_133636 HELQ EXON newrs189015895 4 84339360 [T/C] NM_133636 HELQ Silent var_4_84342729 4 84342729 [A/C] NM_133636 HELQ EXON Nonsense_L979X exm410312 4 84347155 [T/C] NM_133636 HELQ EXON Missense_I923V exm2256755 4 84347243 [A/G] NM_133636 HELQ EXON Synonymous_F893F exm410316 4 84347246 [T/C] NM_133636 HELQ Silent exm2269787 4 84347423 [T/C] NM_133636 HELQ Silent rs1565908 4 84347423 [T/C] NM_133636 HELQ Silent exm410317 4 84348745 [T/C] NM_133636 HELQ EXON Missense_N883D exm410319 4 84348765 [A/T] NM_133636 HELQ EXON Missense_Y876F exm410323 4 84350739 [T/C] NM_133636 HELQ EXON Missense_K819R exm410335 4 84353340 [T/C] NM_133636 HELQ EXON Missense_R710H exm410336 4 84353354 [A/C] NM_133636 HELQ EXON Missense_I705M rs7658363 4 84356454 [A/G] NM_133636 HELQ Silent exm410347 4 84358158 [T/C] NM_133636 HELQ EXON Missense_R634H exm410349 4 84358227 [T/C] NM_133636 HELQ EXON Missense_K611R exm410351 4 84361071 [A/G] NM_133636 HELQ EXON Missense_P585S exm410355 4 84362466 [T/G] NM_133636 HELQ EXON Missense_N552H exm410356 4 84362474 [T/C] NM_133636 HELQ EXON Missense_R549H exm2080772 4 84362553 [T/C] NM_133636 HELQ EXON Missense_E523K exm2241359 4 84368037 [A/C] NM_133636 HELQ EXON Missense_L448W exm410372 4 84368068 [T/C] NM_133636 HELQ EXON Missense_I438V rs17006825 4 84368630 [A/G] NM_133636 HELQ Silent exm410378 4 84369985 [T/C] NM_133636 HELQ EXON Missense_R381Q exm410386 4 84374480 [T/C] NM_133636 HELQ EXON Missense_V306I exm410391 4 84374630 [T/C] NM_133636 HELQ EXON Missense_S256G exm410393 4 84374657 [T/C] NM_133636 HELQ EXON Missense_D247N exm410396 4 84374692 [A/G] NM_133636 HELQ EXON Missense_L235P rs17006837 4 84374692 [A/G] NM_133636 HELQ EXON Missense_L235P variant.81812 4 84374728 [T/C] NM_133636 HELQ EXON Nonsense_W223X exm410399 4 84374746 [A/G] NM_133636 HELQ EXON Missense_S217F exm410400 4 84374812 [A/G] NM_133636 HELQ EXON Missense_V195A exm410405 4 84374966 [T/C] NM_133636 HELQ EXON Missense_A144T exm2080791 4 84375064 [T/C] NM_133636 HELQ EXON Missense_Y111C exm410413 4 84376639 [C/G] NM_133636 HELQ EXON Missense_D70H exm2256756 4 84376697 [A/G] NM_133636 HELQ EXON Synonymous_N50N exm410418 4 84376711 [T/C] NM_133636 HELQ EXON Missense_M46V exm410421 4 84376741 [A/G] NM_133636 HELQ EXON Missense_P36S exm410422 4 84376743 [T/A] NM_133636 HELQ EXON Missense_V35E exm410426 4 84376794 [T/C] NM_133636 HELQ EXON Missense_N18S exm410427 4 84376800 [T/C] NM_133636 HELQ EXON Missense_K16R newrs12505955 4 84380955 [T/G] NM_016067 MRPS18C Silent rs11099601 4 84382763 [T/C] NM_016067,NM_139076 MRPS18C,FAM175A EXON Silent,Silent indel.81819 4 84383660 [D/I] NM_139076 FAM175A EXON exm410461 4 84383735 [T/C] NM_139076 FAM175A EXON Missense_D373N exm410463 4 84383770 [T/C] NM_139076 FAM175A EXON Missense_R361Q exm410465 4 84383810 [T/C] NM_139076 FAM175A EXON Missense_A348T indel.81820 4 84383841 [I/D] NM_139076 FAM175A EXON exm410470 4 84383935 [A/G] NM_139076 FAM175A EXON Missense_V306A exm410471 4 84383955 [T/C] NM_139076 FAM175A EXON Missense_M299I exm410472 4 84383999 [A/G] NM_139076 FAM175A EXON Missense_R285W exm410477 4 84388608 [T/G] NM_139076 FAM175A EXON Missense_K227T rs17355027 4 84388915 [T/C] NM_139076 FAM175A Silent exm410480 4 84390204 [A/G] NM_139076 FAM175A EXON Nonsense_R193X indel.81824 4 84390216 [I/D] NM_139076 FAM175A EXON exm2276863 4 84391468 [A/G] NM_139076 FAM175A EXON Nonsense_Q122X rs17352915 4 84434011 [T/C] rs9999564 4 84444097 [T/C] rs6535480 4 84455200 [T/C] exm410509 4 84457903 [T/C] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_V43A,Missense_V43A,Missense_V43A rs10516690 4 84465613 [T/C] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 Silent,Silent,Silent variant.81826 4 84465690 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Nonsense_W48X,Nonsense_W48X,Nonsense_W48X variant.81827 4 84465701 [T/C] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Nonsense_R52X,Nonsense_R52X,Nonsense_R52X exm410511 4 84465731 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_I62V,Missense_I62V,Missense_I62V rs578017 4 84482387 [G/C] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 Silent,Silent,Silent rs10008545 4 84482817 [A/C] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 Silent,Silent,Silent rs10011103 4 84485400 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 Silent,Silent,Silent exm410515 4 84502831 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_E109K,Missense_E109K,Missense_E109K exm410517 4 84502892 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_R129K,Missense_R129K,Missense_R129K exm410524 4 84508448 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_G174R,Missense_G174R,Missense_G174R newrs144818715 4 84508466 [T/C] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Nonsense_Q180X,Nonsense_Q180X,Nonsense_Q180X variant.81829 4 84508483 [T/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 Silent,Silent,Silent exm410530 4 84509367 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_K187E,Missense_K187E,Missense_K187E exm410532 4 84511351 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 Silent,Silent,Silent exm410544 4 84518066 [C/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_G304R,Missense_G304R,Missense_G304R rs3733328 4 84518315 [T/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 Silent,Silent,Silent exm410556 4 84519270 [T/C] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Nonsense_R355X,Nonsense_R355X,Nonsense_R355X variant.81833 4 84519332 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Synonymous_E375E,Synonymous_E375E,Synonymous_E375E exm410560 4 84519828 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_R386K,Missense_R386K,Missense_R386K exm410561 4 84519845 [C/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_A392P,Missense_A392P,Missense_A392P indel.81834 4 84519869 [D/I] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON exm410562 4 84525829 [A/G] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Missense_G405E,Missense_G405E,Missense_G405E indel.81835 4 84525883 [I/D] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON rs1521532 4 84526536 [T/C] NM_001256422,NM_001256421,NM_032717 AGPAT9,AGPAT9,AGPAT9 EXON Silent,Silent,Silent rs1379977 4 84550759 [A/G] rs6818782 4 84552920 [A/G] rs17359809 4 84554429 [A/G] rs781443 4 84558656 [T/G] rs1458642 4 84562362 [T/G] rs13151073 4 84569279 [A/G] rs1674338 4 84571718 [A/G] exm2265728 4 84580859 [A/G] rs1547507 4 84587179 [A/G] rs17360129 4 84588508 [T/C] rs11099613 4 84589904 [T/C] rs7694527 4 84597304 [T/C] rs7693390 4 84602082 [T/C] rs13117154 4 84603816 [T/C] rs7340961 4 84604639 [T/C] rs6839928 4 84606737 [A/G] rs6849805 4 84626069 [A/C] rs4082474 4 84648524 [A/C] rs6821747 4 84652935 [T/C] rs1352436 4 84654205 [A/G] rs9307828 4 84659390 [A/G] rs10004130 4 84664343 [A/G] rs1488652 4 84673934 [T/C] rs1993570 4 84684230 [A/G] rs7679666 4 84706464 [A/G] rs17007373 4 84717030 [T/C] rs4693646 4 84721814 [A/G] rs13120080 4 84737580 [T/C] rs7689018 4 84759300 [A/G] rs11099621 4 84762151 [T/G] rs10005962 4 84764738 [T/C] rs17357139 4 84778595 [A/G] rs10516704 4 84779231 [A/G] rs1994511 4 84788998 [A/G] rs10021381 4 84790267 [T/C] rs7696864 4 84791189 [A/G] rs721461 4 84793018 [T/C] rs1906578 4 84793814 [T/C] rs13117766 4 84820870 [A/G] rs4106571 4 84825877 [A/C] rs6535510 4 84831724 [T/C] rs1505773 4 84837046 [T/C] rs17007739 4 84841250 [T/G] rs7656326 4 84853269 [A/G] rs2017802 4 84883024 [A/G] rs12650954 4 84884893 [A/G] rs1847819 4 84894991 [T/C] rs1876117 4 84901327 [T/G] rs4693665 4 84909466 [T/C] rs4308354 4 84930230 [T/C] exm-rs4129090 4 84941806 [T/C] rs17007862 4 84947233 [T/C] rs2091745 4 84961080 [A/G] rs1921873 4 84964281 [A/C] rs10000976 4 84978944 [T/C] rs7696640 4 85003358 [T/C] rs12508400 4 85005873 [T/C] rs1343762 4 85006975 [T/G] rs1950128 4 85029894 [T/C] rs6820732 4 85054547 [A/G] rs1921867 4 85056551 [T/C] rs1950130 4 85068653 [A/G] rs7699547 4 85080176 [A/G] exm2261769 4 85090749 [A/G] rs17008262 4 85100353 [T/C] rs6825533 4 85118112 [T/C] rs13122998 4 85136552 [T/C] rs6812243 4 85140339 [T/C] rs6827060 4 85149128 [A/G] rs1532358 4 85159891 [A/G] rs903521 4 85164682 [T/C] rs17008412 4 85169677 [A/G] rs10020342 4 85178558 [A/G] rs10030773 4 85189813 [T/C] rs1495151 4 85205214 [A/G] rs11932874 4 85206535 [A/G] rs10006802 4 85227033 [A/C] kgp9914724 4 85227596 [A/G] rs4264821 4 85272572 [T/C] rs1442164 4 85274948 [A/G] rs1442173 4 85294388 [T/C] rs11934590 4 85305280 [T/C] rs12650179 4 85324586 [T/C] rs7686486 4 85339322 [A/G] rs17008894 4 85341562 [A/C] rs1444957 4 85377040 [T/C] rs1822836 4 85387480 [A/G] exm2261770 4 85401169 [A/G] rs11721853 4 85407784 [T/C] exm410572 4 85414483 [A/C] NM_006168 NKX6-1 EXON Missense_G355C exm410575 4 85414579 [T/C] NM_006168 NKX6-1 EXON Missense_D323N exm410601 4 85419300 [T/C] NM_006168 NKX6-1 EXON Missense_M28V rs3806750 4 85419973 [T/C] rs1545330 4 85428178 [T/C] rs1017560 4 85434987 [T/G] rs7686198 4 85440241 [A/G] rs6849318 4 85449323 [T/C] rs1017557 4 85457113 [T/G] rs974130 4 85469315 [A/G] rs11099650 4 85483950 [A/C] rs4449405 4 85485329 [A/G] rs17009161 4 85491947 [T/C] rs11097023 4 85505474 [T/C] NM_001263 CDS1 Silent exm410604 4 85525406 [T/C] NM_001263 CDS1 EXON Missense_I43T exm410607 4 85525421 [G/C] NM_001263 CDS1 EXON Missense_G48A exm410610 4 85525466 [T/C] NM_001263 CDS1 EXON Missense_P63L exm410613 4 85530633 [T/G] NM_001263 CDS1 EXON Missense_L99F exm410616 4 85538744 [A/C] NM_001263 CDS1 EXON Missense_H124N exm410617 4 85538793 [T/C] NM_001263 CDS1 EXON Missense_P140L exm410622 4 85540674 [G/C] NM_001263 CDS1 EXON Missense_L190V rs6829806 4 85558840 [A/C] NM_001263 CDS1 Silent variant.81839 4 85562042 [T/C] NM_001263 CDS1 EXON Nonsense_R311X exm410637 4 85564210 [A/G] NM_001263 CDS1 EXON Missense_S356G exm410643 4 85569724 [A/G] NM_001263 CDS1 EXON Missense_S424N rs1838038 4 85570364 [A/G] NM_001263 CDS1 EXON Silent rs1120 4 85572374 [A/G] NM_001263 CDS1 EXON Silent exm410652 4 85594116 [A/G] NM_014991 WDFY3 EXON Missense_R3496C exm2080962 4 85600096 [A/G] NM_014991 WDFY3 EXON Missense_R3375W var_4_85609286 4 85609286 [A/G] NM_014991 WDFY3 EXON Nonsense_R3166X exm410708 4 85612894 [T/C] NM_014991 WDFY3 EXON Missense_I3032V exm2256762 4 85617141 [A/G] NM_014991 WDFY3 EXON Synonymous_F2961F variant.81842 4 85636450 [T/C] NM_014991 WDFY3 Silent exm410735 4 85638153 [T/C] NM_014991 WDFY3 EXON Missense_I2591V rs10516727 4 85640591 [A/G] NM_014991 WDFY3 Silent exm2241376 4 85654590 [A/G] NM_014991 WDFY3 EXON Missense_M2389T exm410770 4 85661400 [T/C] NM_014991 WDFY3 EXON Missense_N2135S exm410792 4 85676433 [T/C] NM_014991 WDFY3 EXON Missense_S1849G exm410799 4 85678123 [A/C] NM_014991 WDFY3 EXON Missense_V1794F exm410801 4 85678252 [A/C] NM_014991 WDFY3 EXON Missense_C1751G exm2265729 4 85678624 [A/G] NM_014991 WDFY3 Silent exm410823 4 85699687 [A/G] NM_014991 WDFY3 EXON Missense_T1496I exm410828 4 85701403 [A/G] NM_014991 WDFY3 EXON Missense_V1408A exm410836 4 85707214 [T/C] NM_014991 WDFY3 EXON Missense_Y1327C exm410842 4 85708770 [A/G] NM_014991 WDFY3 EXON Missense_R1256C exm410848 4 85710879 [T/C] NM_014991 WDFY3 EXON Synonymous_K1223K exm2081058 4 85710917 [T/C] NM_014991 WDFY3 EXON Missense_A1211T exm410851 4 85715702 [A/C] NM_014991 WDFY3 EXON Missense_S1153A exm410853 4 85715741 [A/C] NM_014991 WDFY3 EXON Missense_A1140S exm2081059 4 85715779 [T/C] NM_014991 WDFY3 EXON Missense_R1127H exm2081062 4 85716128 [C/G] NM_014991 WDFY3 EXON Missense_L1058V exm410859 4 85717696 [G/C] NM_014991 WDFY3 EXON Missense_D1049H exm410866 4 85722852 [A/G] NM_014991 WDFY3 EXON Missense_R925W exm2081073 4 85724552 [T/C] NM_014991 WDFY3 EXON Missense_H833R exm410875 4 85724595 [A/G] NM_014991 WDFY3 EXON Missense_P819S rs6531775 4 85730914 [T/C] NM_014991 WDFY3 Silent exm410881 4 85731098 [A/G] NM_014991 WDFY3 EXON Missense_R763W exm410882 4 85731103 [A/G] NM_014991 WDFY3 EXON Missense_T761M exm410889 4 85731478 [T/C] NM_014991 WDFY3 EXON Missense_R636Q exm410890 4 85731497 [T/C] NM_014991 WDFY3 EXON Missense_A630T rs1484662 4 85734049 [A/G] NM_014991 WDFY3 Silent exm410894 4 85738576 [A/G] NM_014991 WDFY3 EXON Missense_T619M exm410897 4 85738655 [T/G] NM_014991 WDFY3 EXON Missense_I593L exm410902 4 85741330 [A/C] NM_014991 WDFY3 EXON Missense_R534I exm410906 4 85742393 [T/C] NM_014991 WDFY3 EXON Missense_S479G exm410913 4 85742624 [T/C] NM_014991 WDFY3 EXON Missense_I402V exm410916 4 85748048 [T/C] NM_014991 WDFY3 EXON Missense_S348N exm410933 4 85758141 [T/C] NM_014991 WDFY3 EXON Missense_A173T exm410937 4 85762338 [A/G] NM_014991 WDFY3 EXON Missense_T128M rs17009317 4 85769856 [A/G] NM_014991 WDFY3 Silent rs11936391 4 85779738 [T/C] NM_014991 WDFY3 Silent exm410949 4 85781681 [T/C] NM_014991 WDFY3 EXON Missense_A22T rs11097026 4 85803607 [A/C] NM_014991 WDFY3 Silent rs12501332 4 85827192 [T/C] NM_014991 WDFY3 Silent rs6833661 4 85839095 [T/C] NM_014991 WDFY3 Silent rs17009341 4 85845116 [T/G] NM_014991 WDFY3 Silent rs4590017 4 85898741 [A/G] NR_015359 WDFY3-AS2 Silent rs4533765 4 85915570 [T/C] NR_015359 WDFY3-AS2 Silent rs4383611 4 85917808 [T/C] NR_015359 WDFY3-AS2 Silent rs4287999 4 85974024 [T/C] rs4129430 4 85993738 [T/C] rs11097033 4 86000455 [A/G] rs6835154 4 86009525 [T/C] rs4558866 4 86021602 [A/G] rs11941410 4 86033441 [A/C] rs17009476 4 86036723 [A/G] rs6820757 4 86044561 [T/C] rs6835768 4 86049136 [A/G] rs13145163 4 86057003 [T/C] rs2869268 4 86064719 [A/G] rs17009514 4 86088655 [A/G] rs12507778 4 86098946 [A/C] rs12510879 4 86101484 [A/C] rs2869302 4 86109620 [T/C] rs7666306 4 86129563 [A/G] exm2269789 4 86143981 [T/C] rs6818991 4 86153942 [A/G] rs6841256 4 86167397 [A/G] rs11730221 4 86167708 [T/G] rs12504718 4 86178448 [A/G] rs7673714 4 86191083 [T/C] rs11732437 4 86210281 [A/G] rs1955237 4 86264971 [T/C] rs1817149 4 86276070 [T/C] rs391925 4 86289106 [A/G] rs6842048 4 86292752 [A/G] rs1377362 4 86294733 [A/G] rs9306997 4 86297661 [A/G] rs381032 4 86309824 [A/G] rs1453071 4 86324520 [A/G] rs340185 4 86335426 [T/G] rs1481775 4 86358621 [T/G] rs1383972 4 86384329 [A/G] rs10015995 4 86426882 [A/G] NM_001025616 ARHGAP24 Silent rs9985756 4 86436599 [A/G] NM_001025616 ARHGAP24 Silent rs11942163 4 86461983 [T/G] NM_001025616 ARHGAP24 Silent rs11097059 4 86463980 [A/C] NM_001025616 ARHGAP24 Silent rs1545823 4 86464117 [T/C] NM_001025616 ARHGAP24 Silent rs2869356 4 86475051 [T/C] NM_001025616 ARHGAP24 Silent rs12510597 4 86478104 [T/G] NM_001025616 ARHGAP24 Silent rs964837 4 86482468 [A/G] NM_001025616 ARHGAP24 Silent rs2128101 4 86487089 [T/C] NM_001025616 ARHGAP24 Silent exm410963 4 86491702 [A/G] NM_001025616 ARHGAP24 EXON Missense_E3G exm410966 4 86491814 [A/G] NM_001025616 ARHGAP24 EXON Nonsense_W40X rs1384137 4 86501891 [A/G] NM_001025616 ARHGAP24 Silent rs13103706 4 86533932 [A/G] NM_001025616 ARHGAP24 Silent rs1482088 4 86559173 [A/C] NM_001025616 ARHGAP24 Silent rs1384135 4 86565198 [A/G] NM_001025616 ARHGAP24 Silent rs4693122 4 86581005 [A/G] NM_001025616 ARHGAP24 Silent exm2264099 4 86594072 [A/C] NM_001025616 ARHGAP24 Silent rs1026873 4 86601669 [T/C] NM_001025616 ARHGAP24 Silent rs10017047 4 86615391 [A/G] NM_001025616 ARHGAP24 Silent rs1482085 4 86630512 [A/G] NM_001025616 ARHGAP24 Silent rs4413396 4 86632771 [A/G] NM_001025616 ARHGAP24 Silent rs6531859 4 86637908 [A/G] NM_001025616 ARHGAP24 Silent exm-rs7692808 4 86641149 [A/G] NM_001025616 ARHGAP24 Silent exm-rs7660702 4 86651464 [T/C] NM_001025616 ARHGAP24 Silent rs2062098 4 86652248 [T/C] NM_001025616 ARHGAP24 Silent rs1482091 4 86653361 [A/G] NM_001025616 ARHGAP24 Silent rs994285 4 86659114 [T/G] NM_001025616 ARHGAP24 Silent rs11736641 4 86683729 [T/G] NM_001025616 ARHGAP24 Silent rs13150113 4 86689557 [T/G] NM_001025616 ARHGAP24 Silent rs11945319 4 86691595 [A/G] NM_001025616 ARHGAP24 Silent rs6831420 4 86692665 [A/G] NM_001025616 ARHGAP24 Silent rs10516756 4 86703976 [T/C] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent rs9307010 4 86706193 [A/G] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent rs7662174 4 86709899 [T/G] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent rs7687906 4 86715312 [T/G] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent rs7689056 4 86723173 [A/G] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent rs1452676 4 86725502 [T/G] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent rs12498568 4 86739805 [T/C] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent rs345367 4 86754638 [A/G] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent rs345370 4 86756230 [T/C] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent rs10008894 4 86763097 [A/G] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent rs345328 4 86763901 [T/C] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent rs6834349 4 86768945 [A/G] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent exm2265730 4 86808963 [A/G] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent rs6817562 4 86810287 [T/G] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent rs1016510 4 86819377 [A/C] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent rs10023650 4 86821509 [T/C] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent rs723570 4 86832756 [T/C] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent rs346510 4 86836381 [T/C] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent rs9307013 4 86837843 [T/G] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent exm410974 4 86844816 [A/G] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 EXON Missense_R95Q,Silent variant.81846 4 86844860 [T/C] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 EXON Nonsense_Q110X,Nonsense_Q15X rs346521 4 86847640 [A/G] NM_001025616,NM_001042669 ARHGAP24,ARHGAP24 Silent,Silent exm410981 4 86852097 [T/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Silent,Silent,Missense_R5L exm410991 4 86863252 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_R142H,Missense_R47H,Missense_R49H rs2665869 4 86864518 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 Silent,Silent,Silent rs13110329 4 86871282 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 Silent,Silent,Silent rs346480 4 86880673 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 Silent,Silent,Silent indel.81848 4 86896040 [D/I] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 exm411008 4 86896041 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_G245S,Missense_G150S,Missense_G152S newrs148824321 4 86898722 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 Silent,Silent,Silent exm411020 4 86915872 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_M355I,Missense_M260I,Missense_M262I exm411021 4 86915883 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_Q359R,Missense_Q264R,Missense_Q266R indel.81851 4 86915885 [I/D] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON exm411026 4 86916056 [G/C] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_P417A,Missense_P322A,Missense_P324A indel.81853 4 86916091 [D/I] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON exm411031 4 86916122 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_S439G,Missense_S344G,Missense_S346G exm411034 4 86916193 [A/C] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_S462R,Missense_S367R,Missense_S369R exm411035 4 86916225 [T/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_G473V,Missense_G378V,Missense_G380V exm411036 4 86916228 [T/C] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_T474M,Missense_T379M,Missense_T381M exm411039 4 86916249 [T/C] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_T481M,Missense_T386M,Missense_T388M exm411043 4 86916303 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_R499Q,Missense_R404Q,Missense_R406Q exm411047 4 86916422 [T/C] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_F539L,Missense_F444L,Missense_F446L exm411057 4 86916672 [A/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_R622H,Missense_R527H,Missense_R529H exm411063 4 86921668 [C/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_M680I,Missense_M585I,Missense_M587I variant.81854 4 86921732 [T/C] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Nonsense_R702X,Nonsense_R607X,Nonsense_R609X exm2081279 4 86921826 [C/G] NM_001025616,NM_001042669,NM_031305 ARHGAP24,ARHGAP24,ARHGAP24 EXON Missense_T733R,Missense_T638R,Missense_T640R rs2575675 4 86935890 [T/C] rs2589514 4 86940532 [T/C] NM_138980,NM_138982,NM_002753,NM_138981 MAPK10,MAPK10,MAPK10,MAPK10 Silent,Silent,Silent,Silent rs3775167 4 86946141 [T/C] NM_138980,NM_138982,NM_002753,NM_138981 MAPK10,MAPK10,MAPK10,MAPK10 Silent,Silent,Silent,Silent rs2043649 4 86948942 [A/C] NM_138980,NM_138982,NM_002753,NM_138981 MAPK10,MAPK10,MAPK10,MAPK10 Silent,Silent,Silent,Silent exm411081 4 86950379 [A/C] NM_138980,NM_138982,NM_002753,NM_138981 MAPK10,MAPK10,MAPK10,MAPK10 EXON Missense_G370V,Missense_G408V,Missense_G408V,Missense_G263V rs17011341 4 86975062 [T/C] NM_138980,NM_138982,NM_002753,NM_138981 MAPK10,MAPK10,MAPK10,MAPK10 Silent,Silent,Silent,Silent rs3775187 4 86983232 [T/C] NM_138980,NM_138982,NM_002753,NM_138981 MAPK10,MAPK10,MAPK10,MAPK10 Silent,Silent,Silent,Silent rs1469869 4 86990027 [T/C] NM_138980,NM_138982,NM_002753,NM_138981 MAPK10,MAPK10,MAPK10,MAPK10 Silent,Silent,Silent,Silent rs12505595 4 87028072 [T/C] NM_138980,NM_138982,NM_002753,NM_138981 MAPK10,MAPK10,MAPK10,MAPK10 Silent,Silent,Silent,Silent exm411105 4 87028376 [A/G] NM_138980,NM_138982,NM_002753,NM_138981 MAPK10,MAPK10,MAPK10,MAPK10 EXON Synonymous_N84N,Synonymous_N122N,Synonymous_N122N,Silent rs7689936 4 87041318 [A/G] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 Silent,Silent,Silent rs4352468 4 87062363 [A/C] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 Silent,Silent,Silent rs7678480 4 87087320 [T/C] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 Silent,Silent,Silent rs1460761 4 87096662 [T/C] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 Silent,Silent,Silent variant.81856 4 87115461 [A/C] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 Silent,Silent,Silent variant.81857 4 87115467 [T/C] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 EXON Silent,Silent,Silent newrs141835386 4 87115534 [T/G] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 EXON Silent,Nonsense_Y7X,Nonsense_Y7X rs1599313 4 87135124 [T/C] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 Silent,Silent,Silent exm2261772 4 87176315 [T/G] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 Silent,Silent,Silent rs11725943 4 87180112 [T/C] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 Silent,Silent,Silent rs1460751 4 87219895 [A/G] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 Silent,Silent,Silent rs4693763 4 87231849 [T/C] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 Silent,Silent,Silent rs10213444 4 87232968 [A/G] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 Silent,Silent,Silent rs7689808 4 87254477 [T/C] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 Silent,Silent,Silent rs13132206 4 87255851 [A/G] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 Silent,Silent,Silent rs4608765 4 87259268 [T/C] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 Silent,Silent,Silent rs7688651 4 87259805 [T/C] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 Silent,Silent,Silent rs11097109 4 87269343 [A/G] NM_138980,NM_138982,NM_002753 MAPK10,MAPK10,MAPK10 Silent,Silent,Silent rs10008238 4 87282216 [T/C] NM_002753 MAPK10 Silent rs12644920 4 87287934 [A/C] NM_002753 MAPK10 Silent rs13115030 4 87296065 [A/C] NM_002753 MAPK10 Silent exm2269790 4 87326724 [T/C] NM_002753 MAPK10 Silent rs12507758 4 87351740 [T/C] NM_002753 MAPK10 Silent rs4488910 4 87362834 [T/C] NM_002753 MAPK10 Silent kgp5644642 4 87363090 [A/G] NM_002753 MAPK10 Silent rs4607180 4 87457636 [A/G] rs4529013 4 87463813 [A/G] rs6847139 4 87465741 [A/G] rs4478147 4 87473776 [A/G] rs10023787 4 87542149 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 Silent,Silent,Silent,Silent exm411123 4 87556416 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_V3M,Missense_V3M,Missense_V3M,Missense_V3M exm411127 4 87593550 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_I50V,Missense_I50V,Missense_I50V,Missense_I50V exm411130 4 87593670 [G/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_L90V,Missense_L90V,Missense_L90V,Missense_L90V exm411138 4 87610221 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_A142T,Missense_A142T,Missense_A142T,Missense_A142T exm411142 4 87610302 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_V169M,Missense_V169M,Missense_V169M,Missense_V169M exm411160 4 87622503 [T/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_D248E,Missense_D248E,Missense_D248E,Missense_D248E indel.81860 4 87622606 [I/D] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON indel.81859 4 87622606 [D/I] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON exm411164 4 87622624 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_G289S,Missense_G289S,Missense_G289S,Missense_G289S variant.81861 4 87622656 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Nonsense_W299X,Nonsense_W299X,Nonsense_W299X,Nonsense_W299X exm411166 4 87622723 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R322C,Missense_R322C,Missense_R322C,Missense_R322C exm411167 4 87622727 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R323H,Missense_R323H,Missense_R323H,Missense_R323H exm2081347 4 87622771 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R338G,Missense_R338G,Missense_R338G,Missense_R338G exm411171 4 87622802 [G/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_S348T,Missense_S348T,Missense_S348T,Missense_S348T exm2081348 4 87622841 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_P361L,Missense_P361L,Missense_P361L,Missense_P361L exm411173 4 87622856 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R366Q,Missense_R366Q,Missense_R366Q,Missense_R366Q exm411175 4 87622903 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Nonsense_R382X,Nonsense_R382X,Nonsense_R382X,Nonsense_R382X exm411182 4 87637748 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_I421V,Missense_I421V,Missense_I421V,Missense_I421V exm411184 4 87638213 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_S443N,Missense_S443N,Missense_S443N,Missense_S443N rs4693780 4 87641219 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 Silent,Silent,Silent,Silent exm411188 4 87643398 [T/A] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_L473F,Missense_L473F,Missense_L473F,Missense_L473F exm411192 4 87643478 [G/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R500P,Missense_R500P,Missense_R500P,Missense_R500P exm411197 4 87653569 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_E542G,Missense_E542G,Missense_E542G,Missense_E542G exm411204 4 87653851 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_V597A,Missense_V597A,Missense_V597A,Missense_V597A exm2274032 4 87653856 [G/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_D599H,Missense_D599H,Missense_D599H,Missense_D599H exm411215 4 87656767 [T/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_F724L,Missense_F724L,Missense_F724L,Missense_F724L exm411216 4 87656789 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_A732T,Missense_A732T,Missense_A732T,Missense_A732T rs10024860 4 87656992 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 Silent,Silent,Silent,Silent exm411222 4 87662871 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_V797I,Missense_V797I,Missense_V797I,Missense_V797I rs7664860 4 87664854 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 Silent,Silent,Silent,Silent exm411229 4 87666225 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_H865R,Missense_H865R,Missense_H865R,Missense_H865R exm411230 4 87666269 [T/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_A880S,Missense_A880S,Missense_A880S,Missense_A880S variant.81863 4 87671652 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Nonsense_Q894X,Nonsense_Q894X,Silent,Nonsense_Q894X exm411233 4 87671686 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R905Q,Missense_R905Q,Silent,Missense_R905Q exm411234 4 87671740 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R923Q,Missense_R923Q,Silent,Missense_R923Q exm411236 4 87671908 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_Y979C,Missense_Y979C,Silent,Missense_Y979C exm411237 4 87671916 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R982W,Missense_R982W,Silent,Missense_R982W exm411241 4 87672235 [T/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_D1042Y,Missense_D1042Y,Silent,Missense_D1042Y exm411242 4 87672251 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_E1047G,Missense_E1047G,Silent,Missense_E1047G variant.81864 4 87674161 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 Silent,Silent,Silent,Silent exm411248 4 87674183 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Silent,Missense_G1063E,Silent,Missense_G1063E exm411252 4 87679846 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_G1091D,Missense_G1110D,Missense_G919D,Missense_G1110D exm411256 4 87680155 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_I1142T,Missense_I1161T,Missense_I970T,Missense_I1161T exm411259 4 87683889 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_T1169I,Missense_T1188I,Missense_T997I,Missense_T1188I exm411265 4 87684111 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_N1243S,Missense_N1262S,Missense_N1071S,Missense_N1262S exm411266 4 87684113 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_G1244S,Missense_G1263S,Missense_G1072S,Missense_G1263S exm411268 4 87684148 [T/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_W1255C,Missense_W1274C,Missense_W1083C,Missense_W1274C exm411270 4 87684200 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_E1273K,Missense_E1292K,Missense_E1101K,Missense_E1292K exm411274 4 87684234 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_K1284R,Missense_K1303R,Missense_K1112R,Missense_K1303R exm411277 4 87685796 [T/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_F1337L,Missense_F1356L,Missense_F1165L,Missense_F1356L exm411281 4 87685876 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_T1364M,Missense_T1383M,Missense_T1192M,Missense_T1383M variant.81869 4 87686643 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 Silent,Silent,Silent,Silent exm411282 4 87687593 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_V1399I,Missense_V1418I,Missense_V1227I,Missense_V1423I exm411285 4 87687616 [A/T] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_S1406R,Missense_S1425R,Missense_S1234R,Missense_S1430R exm411286 4 87687650 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_T1418A,Missense_T1437A,Missense_T1246A,Missense_T1442A exm411287 4 87688969 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 Silent,Silent,Silent,Silent exm411288 4 87689000 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_S1435P,Missense_S1454P,Missense_S1263P,Missense_S1459P variant.81871 4 87690981 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Nonsense_R1498X,Nonsense_R1517X,Nonsense_R1326X,Nonsense_R1522X exm411293 4 87690998 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_I1503M,Missense_I1522M,Missense_I1331M,Missense_I1527M exm2081404 4 87691080 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_V1531I,Missense_V1550I,Missense_V1359I,Missense_V1555I exm411304 4 87692393 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_E1606K,Missense_E1625K,Missense_E1434K,Missense_E1630K variant.81872 4 87692420 [T/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Nonsense_E1615X,Nonsense_E1634X,Nonsense_E1443X,Nonsense_E1639X exm2081408 4 87692462 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R1629G,Missense_R1648G,Missense_R1457G,Missense_R1653G exm411306 4 87692496 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_G1640E,Missense_G1659E,Missense_G1468E,Missense_G1664E exm2275758 4 87692523 [A/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_A1649E,Missense_A1668E,Missense_A1477E,Missense_A1673E exm411307 4 87692529 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_I1651T,Missense_I1670T,Missense_I1479T,Missense_I1675T newrs113993738 4 87692693 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 Silent,Silent,Silent,Silent exm411313 4 87693959 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_A1714T,Missense_A1733T,Missense_A1542T,Missense_A1738T exm411316 4 87693992 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_S1725P,Missense_S1744P,Missense_S1553P,Missense_S1749P exm411341 4 87705622 [G/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_A1991G,Missense_A2010G,Missense_A1819G,Missense_A2015G exm411349 4 87706420 [C/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_S2033C,Missense_S2052C,Missense_S1861C,Missense_S2057C exm411353 4 87706506 [T/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_Y2062D,Missense_Y2081D,Missense_Y1890D,Missense_Y2086D exm411354 4 87707016 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_N2072S,Missense_N2091S,Missense_N1900S,Missense_N2096S exm411358 4 87720333 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_T2142A,Missense_T2161A,Missense_T1970A,Missense_T2166A exm411365 4 87724970 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R2186Q,Missense_R2205Q,Missense_R2014Q,Missense_R2210Q variant.81876 4 87725015 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 Silent,Silent,Silent,Silent rs17694112 4 87728676 [A/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 Silent,Silent,Silent,Silent exm411377 4 87730934 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R2347C,Missense_R2366C,Missense_R2175C,Missense_R2371C exm411379 4 87730949 [C/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_L2352V,Missense_L2371V,Missense_L2180V,Missense_L2376V exm411380 4 87730980 [T/C] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_T2362I,Missense_T2381I,Missense_T2190I,Missense_T2386I exm411386 4 87732221 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_R2422H,Missense_R2441H,Missense_R2250H,Missense_R2446H exm411388 4 87732228 [T/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_M2424I,Missense_M2443I,Missense_M2252I,Missense_M2448I exm411393 4 87735618 [A/G] NM_006264,NM_080683,NM_080684,NM_080685 PTPN13,PTPN13,PTPN13,PTPN13 EXON Missense_I2439V,Missense_I2458V,Missense_I2267V,Missense_I2463V rs10000226 4 87738967 [T/C] rs7688019 4 87743984 [T/G] exm411398 4 87744883 [G/C] NM_197965 SLC10A6 EXON Missense_H364Q exm411403 4 87746612 [T/C] NM_197965 SLC10A6 EXON Missense_G294R variant.81878 4 87746704 [T/C] NM_197965 SLC10A6 EXON Missense_G263E exm411409 4 87749297 [A/G] NM_197965 SLC10A6 EXON Missense_L204F exm411410 4 87749312 [T/C] NM_197965 SLC10A6 EXON Missense_V199I exm411414 4 87752976 [C/G] NM_197965 SLC10A6 EXON Missense_R185T exm411417 4 87753028 [T/C] NM_197965 SLC10A6 EXON Missense_T168A rs10050311 4 87754419 [T/C] NM_197965 SLC10A6 Silent rs7678571 4 87754713 [A/G] NM_197965 SLC10A6 Silent exm411425 4 87769929 [T/C] NM_197965 SLC10A6 EXON Missense_I114V exm411426 4 87769944 [T/C] NM_197965 SLC10A6 EXON Missense_G109S exm411435 4 87770157 [A/C] NM_197965 SLC10A6 EXON Missense_S38A exm411438 4 87770236 [T/G] NM_197965 SLC10A6 EXON Nonsense_C11X exm411439 4 87770252 [A/G] NM_197965 SLC10A6 EXON Missense_S6F rs8180256 4 87773193 [A/G] rs10015508 4 87794302 [T/C] rs1374934 4 87798196 [A/G] NM_144645 C4orf36 Silent rs2121871 4 87800577 [T/C] NM_144645 C4orf36 Silent exm411443 4 87808969 [A/G] NM_144645 C4orf36 EXON Nonsense_Q100X exm411445 4 87809025 [T/C] NM_144645 C4orf36 EXON Missense_Y81C exm411447 4 87809035 [T/C] NM_144645 C4orf36 EXON Missense_E78K indel.81884 4 87809282 [D/I] NM_144645 C4orf36 EXON exm411451 4 87809387 [T/G] NM_144645 C4orf36 EXON Missense_S36Y newrs138842346 4 87809389 [T/C] NM_144645 C4orf36 EXON Nonsense_W35X exm411456 4 87809426 [T/C] NM_144645 C4orf36 EXON Missense_Q23R exm411460 4 87812621 [T/C] NM_144645 C4orf36 EXON Missense_S18N exm411464 4 87812672 [A/G] NM_144645 C4orf36 EXON Missense_M1T rs1868244 4 87815387 [A/G] rs3113494 4 87832601 [A/G] rs17751557 4 87834607 [A/G] rs7657530 4 87852108 [T/G] NR_038841 LOC100506746 Silent rs6836128 4 87863770 [T/C] NM_001166693 AFF1 Silent rs965824 4 87880096 [A/G] NM_001166693 AFF1 Silent rs6855627 4 87898302 [A/G] NM_001166693 AFF1 Silent exm2269938 4 87924979 [T/C] NM_001166693 AFF1 Silent rs340638 4 87928204 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Silent,Silent rs340641 4 87951393 [T/C] NM_001166693,NM_005935 AFF1,AFF1 Silent,Silent rs6831823 4 87954827 [A/G] NM_001166693,NM_005935 AFF1,AFF1 Silent,Silent rs10032200 4 87955141 [A/C] NM_001166693,NM_005935 AFF1,AFF1 Silent,Silent rs340628 4 87956886 [A/G] NM_001166693,NM_005935 AFF1,AFF1 Silent,Silent rs340630 4 87958395 [A/G] NM_001166693,NM_005935 AFF1,AFF1 Silent,Silent exm411479 4 87967323 [A/T] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_Y15F,Missense_Y8F exm2277284 4 87968162 [C/G] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_G159R,Missense_G152R exm411498 4 87968165 [A/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_P160T,Missense_P153T exm411506 4 87968271 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_S195L,Missense_S188L exm411512 4 87968375 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_R230W,Missense_R223W exm411513 4 87968379 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_T231M,Missense_T224M exm411519 4 87968514 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_P276L,Missense_P269L exm411523 4 87968562 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_A292V,Missense_A285V exm411529 4 87968736 [A/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_Q350P,Missense_Q343P rs6819155 4 87976178 [A/G] NM_001166693,NM_005935 AFF1,AFF1 Silent,Silent rs17605615 4 87996745 [A/G] NM_001166693,NM_005935 AFF1,AFF1 Silent,Silent rs236996 4 88005203 [A/G] NM_001166693,NM_005935 AFF1,AFF1 Silent,Silent exm2256770 4 88008782 [A/G] NM_001166693,NM_005935 AFF1,AFF1 Silent,Silent rs236675 4 88010601 [T/C] NM_001166693,NM_005935 AFF1,AFF1 Silent,Silent indel.81890 4 88011199 [D/I] NM_001166693,NM_005935 AFF1,AFF1 EXON exm411557 4 88026981 [T/A] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_S454T,Missense_S447T exm-rs442177 4 88030261 [T/G] NM_001166693,NM_005935 AFF1,AFF1 Silent,Silent rs447990 4 88033352 [T/G] NM_001166693,NM_005935 AFF1,AFF1 Silent,Silent exm411568 4 88035621 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_R546W,Missense_R539W exm411569 4 88035624 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_R547W,Missense_R540W exm411580 4 88035804 [A/G] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_V607I,Missense_V600I exm411585 4 88035907 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_S641F,Missense_S634F exm411586 4 88035946 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_T654M,Missense_T647M exm411599 4 88036116 [A/G] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_V711I,Missense_V704I exm411600 4 88036146 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_H721Y,Missense_H714Y exm411607 4 88036182 [A/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_Q733K,Missense_Q726K exm411610 4 88036225 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_P747L,Missense_P740L exm411614 4 88036308 [T/G] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_D775Y,Missense_D768Y exm411620 4 88036358 [T/G] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_R791S,Missense_R784S exm411621 4 88036378 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_P798L,Missense_P791L exm411625 4 88046210 [A/G] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_D830N,Missense_D823N exm411628 4 88046242 [G/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_I840M,Missense_I833M exm411637 4 88047328 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_P884L,Missense_P877L exm411648 4 88048214 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_P950S,Missense_P943S exm411662 4 88052985 [T/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_P1048S,Missense_P1041S exm411664 4 88053456 [T/G] NM_001166693,NM_005935 AFF1,AFF1 EXON Missense_M1069I,Missense_M1062I exm2273394 4 88058340 [G/C] NM_001166693,NM_005935 AFF1,AFF1 EXON Silent,Silent rs17012512 4 88067504 [T/C] rs6840470 4 88082526 [T/C] NM_020803 KLHL8 EXON Silent rs3193672 4 88083107 [T/C] NM_020803 KLHL8 EXON Silent variant.81892 4 88084715 [A/G] NM_020803 KLHL8 EXON Nonsense_R607X exm411693 4 88085076 [T/C] NM_020803 KLHL8 EXON Missense_N565D exm411697 4 88085177 [T/C] NM_020803 KLHL8 EXON Missense_S531N exm411698 4 88085180 [T/C] NM_020803 KLHL8 EXON Missense_R530Q exm411699 4 88085192 [T/C] NM_020803 KLHL8 EXON Missense_R526Q rs17754933 4 88087832 [A/G] NM_020803 KLHL8 Silent rs964739 4 88088507 [A/G] NM_020803 KLHL8 Silent exm411703 4 88091339 [T/C] NM_020803 KLHL8 EXON Missense_V477M variant.81895 4 88099624 [T/C] NM_020803 KLHL8 Silent exm411715 4 88099704 [T/C] NM_020803 KLHL8 EXON Missense_I341V exm411719 4 88104382 [A/G] NM_020803 KLHL8 EXON Missense_R309W exm2241407 4 88106634 [T/A] NM_020803 KLHL8 EXON Missense_S178R exm411734 4 88106908 [A/C] NM_020803 KLHL8 EXON Missense_C87F exm411739 4 88116516 [T/C] NM_020803 KLHL8 EXON Missense_R59Q variant.81897 4 88116517 [A/G] NM_020803 KLHL8 EXON Nonsense_R59X exm411741 4 88116529 [G/C] NM_020803 KLHL8 EXON Missense_G55R exm411745 4 88116591 [A/C] NM_020803 KLHL8 EXON Missense_S34I exm411747 4 88116637 [T/C] NM_020803 KLHL8 EXON Missense_K19E var_4_88116664 4 88116664 [A/G] NM_020803 KLHL8 EXON Nonsense_Q10X rs6531956 4 88117272 [T/C] NM_020803 KLHL8 Silent rs6834470 4 88148812 [A/C] rs10006766 4 88160018 [A/G] rs4134363 4 88162837 [A/G] rs6847980 4 88180631 [T/G] rs7668929 4 88190169 [A/G] rs7699556 4 88191100 [T/C] rs6531968 4 88199484 [T/G] rs4693811 4 88200095 [T/C] rs10084835 4 88211056 [A/G] rs13133311 4 88217223 [A/G] rs11945520 4 88224998 [T/C] NM_001136230,NM_178135 HSD17B13,HSD17B13 EXON Silent,Silent exm411756 4 88226437 [A/G] NM_001136230,NM_178135 HSD17B13,HSD17B13 EXON Missense_A243V,Missense_A279V exm411761 4 88231428 [T/G] NM_001136230,NM_178135 HSD17B13,HSD17B13 EXON Missense_P224Q,Missense_P260Q exm411762 4 88231429 [A/G] NM_001136230,NM_178135 HSD17B13,HSD17B13 EXON Missense_P224S,Missense_P260S exm411766 4 88231477 [T/C] NM_001136230,NM_178135 HSD17B13,HSD17B13 EXON Missense_R208G,Missense_R244G exm411769 4 88231491 [A/G] NM_001136230,NM_178135 HSD17B13,HSD17B13 EXON Missense_T203I,Missense_T239I rs9992651 4 88232510 [A/G] NM_001136230,NM_178135 HSD17B13,HSD17B13 Silent,Silent rs7698406 4 88234593 [T/C] NM_001136230,NM_178135 HSD17B13,HSD17B13 Silent,Silent exm411777 4 88235068 [G/C] NM_001136230,NM_178135 HSD17B13,HSD17B13 EXON Nonsense_S165X,Nonsense_S201X exm411781 4 88236673 [T/C] NM_001136230,NM_178135 HSD17B13,HSD17B13 EXON Missense_E141K,Missense_E177K exm411782 4 88236679 [T/C] NM_001136230,NM_178135 HSD17B13,HSD17B13 EXON Missense_G139S,Missense_G175S exm411791 4 88238293 [T/C] NM_001136230,NM_178135 HSD17B13,HSD17B13 EXON Missense_D98G,Missense_D134G variant.81901 4 88239481 [T/C] NM_001136230,NM_178135 HSD17B13,HSD17B13 EXON Silent,Synonymous_Q106Q exm411797 4 88239516 [T/G] NM_001136230,NM_178135 HSD17B13,HSD17B13 EXON Silent,Missense_S95R variant.81904 4 88243819 [A/G] NM_001136230,NM_178135 HSD17B13,HSD17B13 EXON Nonsense_R59X,Nonsense_R59X exm411809 4 88243948 [A/T] NM_001136230,NM_178135 HSD17B13,HSD17B13 EXON Missense_Y16N,Missense_Y16N rs7678047 4 88244210 [A/G] rs6531977 4 88246162 [T/G] indel.81905 4 88258475 [I/D] NM_016245 HSD17B11 EXON exm411813 4 88258505 [A/G] NM_016245 HSD17B11 EXON Missense_R276C exm411817 4 88261712 [A/G] NM_016245 HSD17B11 EXON Missense_H248Y newrs138228830 4 88261754 [A/C] NM_016245 HSD17B11 EXON Nonsense_G234X rs7698689 4 88264614 [A/G] NM_016245 HSD17B11 Silent rs11734330 4 88274740 [T/G] NM_016245 HSD17B11 Silent rs6531978 4 88277927 [A/G] NM_016245 HSD17B11 Silent exm2256771 4 88280502 [T/C] NM_016245 HSD17B11 Silent rs6845304 4 88280502 [T/C] NM_016245 HSD17B11 Silent rs10028441 4 88290265 [A/G] NM_016245 HSD17B11 Silent rs6531985 4 88293887 [A/G] NM_016245 HSD17B11 EXON Synonymous_V177V rs10222732 4 88295008 [C/G] NM_016245 HSD17B11 Silent exm411833 4 88295955 [T/C] NM_016245 HSD17B11 EXON Missense_I116V rs7682516 4 88304358 [T/G] NM_016245 HSD17B11 Silent rs13138404 4 88312504 [T/C] rs6827817 4 88330987 [A/G] rs11936273 4 88335508 [A/G] exm411851 4 88344154 [A/C] NM_024047,NM_001248011,NM_198038 NUDT9,NUDT9,NUDT9 EXON Missense_Q33K,Missense_Q33K,Silent rs10017282 4 88347368 [T/C] NM_024047,NM_001248011,NM_198038 NUDT9,NUDT9,NUDT9 Silent,Silent,Silent rs11097155 4 88349200 [T/C] NM_024047,NM_001248011,NM_198038 NUDT9,NUDT9,NUDT9 Silent,Silent,Silent exm411853 4 88356135 [A/G] NM_024047,NM_001248011,NM_198038 NUDT9,NUDT9,NUDT9 EXON Missense_N37S,Missense_N37S,Silent variant.81910 4 88356153 [A/G] NM_024047,NM_001248011,NM_198038 NUDT9,NUDT9,NUDT9 EXON Nonsense_W43X,Nonsense_W43X,Silent rs7690728 4 88356799 [T/C] NM_024047,NM_001248011,NM_198038 NUDT9,NUDT9,NUDT9 Silent,Silent,Silent variant.81912 4 88363032 [A/G] NM_024047,NM_001248011,NM_198038 NUDT9,NUDT9,NUDT9 EXON Nonsense_W165X,Nonsense_W133X,Nonsense_W115X rs13119333 4 88365083 [T/C] NM_024047,NM_001248011,NM_198038 NUDT9,NUDT9,NUDT9 Silent,Silent,Silent exm411874 4 88372858 [T/C] NM_024047,NM_001248011,NM_198038 NUDT9,NUDT9,NUDT9 EXON Missense_H254Y,Missense_H222Y,Missense_H204Y exm411880 4 88379063 [A/G] NM_024047,NM_001248011,NM_198038 NUDT9,NUDT9,NUDT9 EXON Missense_N315D,Missense_N283D,Missense_N265D exm411881 4 88379064 [A/G] NM_024047,NM_001248011,NM_198038 NUDT9,NUDT9,NUDT9 EXON Missense_N315S,Missense_N283S,Missense_N265S newrs144359485 4 88379123 [T/C] NM_024047,NM_001248011,NM_198038 NUDT9,NUDT9,NUDT9 EXON Nonsense_R335X,Nonsense_R303X,Nonsense_R285X rs9968511 4 88381080 [T/C] rs4405983 4 88386769 [T/C] rs9994839 4 88393780 [T/G] rs4610302 4 88400110 [A/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 Silent,Silent exm411894 4 88400666 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_T628A,Missense_T628A rs10461161 4 88404126 [A/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 Silent,Silent exm411911 4 88411494 [T/A] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_T488S,Missense_T488S exm411915 4 88411950 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_D458N,Missense_D458N exm411921 4 88412806 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_T419A,Missense_T419A exm411924 4 88414754 [G/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_E400Q,Missense_E400Q exm2241412 4 88414795 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_Q386R,Missense_Q386R exm411926 4 88414804 [A/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_I383T,Missense_I383T indel.81919 4 88414925 [D/I] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON exm411934 4 88414970 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_G328S,Missense_G328S exm411937 4 88415037 [G/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_I305M,Missense_I305M exm411938 4 88415038 [A/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_I305T,Missense_I305T exm411939 4 88415061 [G/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_E297D,Missense_E297D exm411941 4 88415194 [A/T] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_V253E,Missense_V253E indel.81920 4 88415288 [I/D] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON exm411948 4 88415387 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_G189R,Missense_G189R exm411949 4 88415394 [A/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_R186S,Missense_R186S exm411950 4 88415396 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_R186G,Missense_R186G exm411951 4 88415416 [C/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_S179T,Missense_S179T exm411952 4 88415437 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_H172R,Missense_H172R exm411957 4 88415566 [C/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_P129R,Missense_P129R exm411958 4 88415596 [A/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_T119I,Missense_T119I newrs139303766 4 88415618 [A/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Nonsense_E112X,Nonsense_E112X exm411960 4 88415636 [C/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_H106D,Missense_H106D rs3763392 4 88415884 [A/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 Silent,Silent exm2081642 4 88416147 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_D63N,Missense_D63N exm411968 4 88416185 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_E50G,Missense_E50G exm411969 4 88416188 [T/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_A49D,Missense_A49D exm411973 4 88416233 [A/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Missense_T34M,Missense_T34M variant.81922 4 88420673 [T/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 EXON Synonymous_P18P,Synonymous_P18P rs10003497 4 88429759 [A/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 Silent,Silent rs4693829 4 88438011 [A/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 Silent,Silent rs17012782 4 88443685 [A/G] NM_001128310,NM_004684 SPARCL1,SPARCL1 Silent,Silent rs2011326 4 88448026 [A/C] NM_001128310,NM_004684 SPARCL1,SPARCL1 Silent,Silent rs1031794 4 88451182 [T/C] rs1031796 4 88451579 [A/C] rs10027979 4 88456441 [T/C] rs4693841 4 88466135 [T/C] rs1381633 4 88468852 [A/G] rs1462372 4 88478750 [T/C] rs7435692 4 88489929 [A/C] rs6822632 4 88502642 [A/G] rs4693847 4 88509940 [T/C] rs2615487 4 88530463 [T/C] NM_014208 DSPP Silent exm411978 4 88533290 [A/G] NM_014208 DSPP EXON Missense_E29K exm411979 4 88533296 [T/C] NM_014208 DSPP EXON Missense_S31P exm411985 4 88533540 [A/T] NM_014208 DSPP EXON Missense_R68W exm411989 4 88533603 [C/G] NM_014208 DSPP EXON Missense_G89R exm411992 4 88533697 [A/G] NM_014208 DSPP EXON Missense_G120D exm411994 4 88533706 [G/C] NM_014208 DSPP EXON Missense_G123A exm411995 4 88533730 [T/C] NM_014208 DSPP EXON Missense_I131T exm412009 4 88534029 [A/C] NM_014208 DSPP EXON Missense_P231T exm412011 4 88534051 [A/G] NM_014208 DSPP EXON Missense_G238D exm412013 4 88534065 [A/G] NM_014208 DSPP EXON Missense_D243N exm412018 4 88534140 [T/G] NM_014208 DSPP EXON Missense_G268W rs2736982 4 88534235 [A/G] NM_014208 DSPP EXON Synonymous_S299S exm412022 4 88534241 [T/G] NM_014208 DSPP EXON Missense_S301R exm412028 4 88534326 [A/G] NM_014208 DSPP EXON Missense_A330T exm412031 4 88534362 [A/G] NM_014208 DSPP EXON Missense_E342K exm412033 4 88534398 [T/C] NM_014208 DSPP EXON Missense_R354C exm412036 4 88534401 [A/G] NM_014208 DSPP EXON Missense_V355I exm412038 4 88534411 [A/G] NM_014208 DSPP EXON Missense_R358K exm412043 4 88535003 [G/C] NM_014208 DSPP EXON Missense_E397Q exm412045 4 88535073 [T/C] NM_014208 DSPP EXON Missense_V420A indel.81925 4 88535096 [D/I] NM_014208 DSPP EXON indel.81926 4 88535396 [D/I] NM_014208 DSPP EXON exm412063 4 88535592 [G/C] NM_014208 DSPP EXON Missense_S593T exm412109 4 88536196 [A/C] NM_014208 DSPP EXON Missense_S794R exm412156 4 88536497 [A/G] NM_014208 DSPP EXON Missense_S895G exm412356 4 88537715 [T/G] NM_014208 DSPP EXON Missense_D1301Y rs10028688 4 88539948 [T/C] rs1381626 4 88552784 [A/G] rs2627669 4 88564721 [T/C] exm412365 4 88578209 [T/C] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_S27F,Missense_S27F exm412366 4 88578220 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_E31K,Missense_E31K exm412369 4 88580405 [T/G] NM_004407,NM_001079911 DMP1,DMP1 Silent,Silent exm412373 4 88583135 [A/T] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_S69C,Missense_S53C rs10019009 4 88583135 [A/T] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_S69C,Missense_S53C exm412376 4 88583193 [T/C] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_A88V,Missense_A72V exm412384 4 88583351 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_D141N,Missense_D125N exm412387 4 88583405 [A/C] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_Q159K,Missense_Q143K exm412389 4 88583447 [T/C] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_R173W,Missense_R157W exm412394 4 88583564 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_D212N,Missense_D196N exm412400 4 88583654 [T/C] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_S242P,Missense_S226P exm412401 4 88583745 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_R272H,Missense_R256H exm412403 4 88583774 [A/C] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_L282I,Missense_L266I exm412407 4 88583873 [C/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_G315R,Missense_G299R exm412409 4 88583927 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_V333I,Missense_V317I exm412411 4 88583960 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_A344T,Missense_A328T exm412419 4 88584081 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_S384N,Missense_S368N exm2081679 4 88584134 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_E402K,Missense_E386K exm412430 4 88584185 [T/C] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_P419S,Missense_P403S exm412435 4 88584318 [A/G] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_K463R,Missense_K447R exm412438 4 88584363 [A/C] NM_004407,NM_001079911 DMP1,DMP1 EXON Missense_D478A,Missense_D462A rs10034250 4 88601464 [T/C] rs11097166 4 88611344 [A/G] rs17012948 4 88615772 [T/C] rs4416440 4 88652577 [T/C] rs2732171 4 88655984 [A/G] rs7661141 4 88665977 [A/G] rs17013057 4 88673568 [A/G] rs2627704 4 88677931 [T/C] rs4693868 4 88678096 [T/G] rs2627723 4 88681801 [A/C] rs7661149 4 88696086 [A/G] rs2100889 4 88698345 [T/C] rs12650760 4 88705132 [T/C] rs2732166 4 88710784 [A/G] variant.81932 4 88723712 [T/C] NM_004967 IBSP Silent exm412452 4 88723842 [T/C] NM_004967 IBSP EXON Missense_H48Y exm412455 4 88727292 [A/G] NM_004967 IBSP EXON Missense_E68K indel.81934 4 88727336 [D/I] NM_004967 IBSP EXON rs1381965 4 88728904 [A/C] NM_004967 IBSP Silent indel.81935 4 88731765 [D/I] NM_004967 IBSP EXON exm412465 4 88732573 [C/G] NM_004967 IBSP EXON Missense_E155D exm412466 4 88732603 [A/C] NM_004967 IBSP EXON Missense_S165R rs1054627 4 88732692 [A/G] NM_004967 IBSP EXON Missense_G195E exm412469 4 88732692 [A/G] NM_004967 IBSP EXON Missense_G195E rs13144371 4 88732746 [A/G] NM_004967 IBSP EXON Missense_D213G exm412472 4 88732746 [A/G] NM_004967 IBSP EXON Missense_D213G exm412474 4 88732763 [A/G] NM_004967 IBSP EXON Missense_R219G rs17013182 4 88732874 [A/G] NM_004967 IBSP EXON Missense_T256A exm412478 4 88732874 [A/G] NM_004967 IBSP EXON Missense_T256A exm412480 4 88732886 [A/G] NM_004967 IBSP EXON Missense_E260K exm412481 4 88732911 [T/C] NM_004967 IBSP EXON Missense_A268V exm412483 4 88732918 [T/A] NM_004967 IBSP EXON Missense_E270D exm412485 4 88732968 [A/G] NM_004967 IBSP EXON Missense_G287E exm412486 4 88732999 [C/G] NM_004967 IBSP EXON Nonsense_Y297X rs7681895 4 88742318 [T/C] rs13117929 4 88746734 [A/G] NM_001184694 MEPE Silent rs17013212 4 88754060 [T/C] NM_001184694 MEPE Silent exm-rs7698623 4 88755828 [T/C] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE Silent,Silent,Silent,Silent,Silent rs11097173 4 88755967 [T/C] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE Silent,Silent,Silent,Silent,Silent rs17712558 4 88757703 [T/G] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE Silent,Silent,Silent,Silent,Silent rs13127257 4 88765516 [A/C] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE Silent,Silent,Silent,Silent,Silent exm412500 4 88766142 [A/T] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_N41I,Silent,Silent,Missense_N41I,Silent exm412503 4 88766373 [T/C] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_P118L,Missense_P5L,Missense_P5L,Missense_P118L,Missense_P5L exm412516 4 88766636 [A/G] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_S206G,Missense_S93G,Missense_S93G,Missense_S206G,Missense_S93G exm412520 4 88766678 [A/G] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_I220V,Missense_I107V,Missense_I107V,Missense_I220V,Missense_I107V exm412526 4 88766795 [A/G] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_G259S,Missense_G146S,Missense_G146S,Missense_G259S,Missense_G146S indel.81947 4 88766859 [I/D] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON exm412534 4 88766909 [C/G] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_D297H,Missense_D184H,Missense_D184H,Missense_D297H,Missense_D184H exm412537 4 88766969 [A/G] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_I317V,Missense_I204V,Missense_I204V,Missense_I317V,Missense_I204V exm412538 4 88766991 [T/C] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_A324V,Missense_A211V,Missense_A211V,Missense_A324V,Missense_A211V exm412542 4 88767006 [T/C] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_A329V,Missense_A216V,Missense_A216V,Missense_A329V,Missense_A216V exm412543 4 88767008 [A/G] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_V330I,Missense_V217I,Missense_V217I,Missense_V330I,Missense_V217I exm412546 4 88767132 [A/G] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_E371G,Missense_E258G,Missense_E258G,Missense_E371G,Missense_E258G exm412552 4 88767233 [C/G] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_G405R,Missense_G292R,Missense_G292R,Missense_G405R,Missense_G292R exm412553 4 88767260 [T/G] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_S414A,Missense_S301A,Missense_S301A,Missense_S414A,Missense_S301A exm2241424 4 88767298 [T/G] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_R426S,Missense_R313S,Missense_R313S,Missense_R426S,Missense_R313S exm412557 4 88767366 [A/C] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_N449T,Missense_N336T,Missense_N336T,Missense_N449T,Missense_N336T exm2081724 4 88767402 [A/C] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_N461T,Missense_N348T,Missense_N348T,Missense_N461T,Missense_N348T exm412562 4 88767413 [A/C] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_H465N,Missense_H352N,Missense_H352N,Missense_H465N,Missense_H352N exm412563 4 88767432 [A/G] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_Y471C,Missense_Y358C,Missense_Y358C,Missense_Y471C,Missense_Y358C exm412564 4 88767461 [T/C] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_R481W,Missense_R368W,Missense_R368W,Missense_R481W,Missense_R368W exm412566 4 88767481 [A/C] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_Q487H,Missense_Q374H,Missense_Q374H,Missense_Q487H,Missense_Q374H exm412570 4 88767533 [T/C] NM_001184694,NM_001184695,NM_001184697,NM_020203,NM_001184696 MEPE,MEPE,MEPE,MEPE,MEPE EXON Missense_R505C,Missense_R392C,Missense_R392C,Missense_R505C,Missense_R392C rs6532023 4 88773849 [T/G] rs1471399 4 88774073 [A/G] rs7655902 4 88777743 [T/C] rs931032 4 88778446 [T/C] rs1463091 4 88788036 [T/C] rs1026663 4 88789140 [T/C] rs17013421 4 88793888 [A/G] rs6815121 4 88795989 [A/G] rs12510860 4 88797100 [A/G] rs4693894 4 88797798 [T/C] rs13147372 4 88801906 [T/C] rs12644436 4 88805208 [A/G] rs17013516 4 88808272 [A/G] rs4693901 4 88817116 [A/G] rs17013544 4 88823643 [A/C] rs7683960 4 88834454 [A/G] rs716202 4 88836002 [T/C] exm2256775 4 88837705 [T/C] rs16996103 4 88848691 [A/G] rs10005067 4 88852643 [T/C] rs1477600 4 88856229 [A/G] rs6532035 4 88867961 [T/C] rs7675985 4 88868506 [A/G] rs6833161 4 88889605 [T/C] rs6813526 4 88894235 [T/C] exm412579 4 88898217 [A/C] NM_001040060,NM_001251829,NM_000582,NM_001251830,NM_001040058 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_Q21K,Missense_Q21K,Missense_Q21K,Silent,Missense_Q21K exm412583 4 88901197 [A/G] NM_001040060,NM_001251829,NM_000582,NM_001251830,NM_001040058 SPP1,SPP1,SPP1,SPP1,SPP1 Silent,Silent,Silent,Silent,Silent exm412584 4 88901225 [T/G] NM_001040060,NM_001251829,NM_000582,NM_001251830,NM_001040058 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Silent,Silent,Missense_A41S,Missense_A54S,Missense_A41S exm412586 4 88901249 [T/C] NM_001040060,NM_001251829,NM_000582,NM_001251830,NM_001040058 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Silent,Silent,Missense_S49P,Missense_S62P,Missense_S49P exm412589 4 88901545 [T/A] NM_001040060,NM_001251829,NM_000582,NM_001251830,NM_001040058 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_N32Y,Silent,Silent,Missense_N72Y,Missense_N59Y indel.81949 4 88901587 [I/D] NM_001040060,NM_001251829,NM_000582,NM_001251830,NM_001040058 SPP1,SPP1,SPP1,SPP1,SPP1 rs4754 4 88902692 [T/C] NM_001040060,NM_001251829,NM_000582,NM_001251830,NM_001040058 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Synonymous_D67D,Synonymous_D53D,Synonymous_D80D,Synonymous_D107D,Synonymous_D94D exm2274034 4 88902704 [A/C] NM_001040060,NM_001251829,NM_000582,NM_001251830,NM_001040058 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_D71E,Missense_D57E,Missense_D84E,Missense_D111E,Missense_D98E exm412605 4 88902774 [A/G] NM_001040060,NM_001251829,NM_000582,NM_001251830,NM_001040058 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_E95K,Missense_E81K,Missense_E108K,Missense_E135K,Missense_E122K exm412611 4 88902888 [A/G] NM_001040060,NM_001251829,NM_000582,NM_001251830,NM_001040058 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_G133S,Missense_G119S,Missense_G146S,Missense_G173S,Missense_G160S exm412613 4 88902933 [A/C] NM_001040060,NM_001251829,NM_000582,NM_001251830,NM_001040058 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_R148S,Missense_R134S,Missense_R161S,Missense_R188S,Missense_R175S exm412618 4 88903774 [A/G] NM_001040060,NM_001251829,NM_000582,NM_001251830,NM_001040058 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_S197N,Missense_S183N,Missense_S210N,Missense_S237N,Missense_S224N exm412621 4 88903825 [A/G] NM_001040060,NM_001251829,NM_000582,NM_001251830,NM_001040058 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_K214R,Missense_K200R,Missense_K227R,Missense_K254R,Missense_K241R exm412627 4 88903881 [A/G] NM_001040060,NM_001251829,NM_000582,NM_001251830,NM_001040058 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_V233M,Missense_V219M,Missense_V246M,Missense_V273M,Missense_V260M exm412629 4 88903899 [T/C] NM_001040060,NM_001251829,NM_000582,NM_001251830,NM_001040058 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_L239F,Missense_L225F,Missense_L252F,Missense_L279F,Missense_L266F exm412631 4 88903915 [A/G] NM_001040060,NM_001251829,NM_000582,NM_001251830,NM_001040058 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_R244H,Missense_R230H,Missense_R257H,Missense_R284H,Missense_R271H exm412634 4 88904005 [A/G] NM_001040060,NM_001251829,NM_000582,NM_001251830,NM_001040058 SPP1,SPP1,SPP1,SPP1,SPP1 EXON Missense_R274H,Missense_R260H,Missense_R287H,Missense_R314H,Missense_R301H rs7685225 4 88906458 [T/C] rs7675246 4 88908998 [A/G] exm-rs2725236 4 88919106 [A/G] rs12500008 4 88924176 [A/C] rs2725233 4 88933584 [T/C] NM_000297 PKD2 Silent rs10516801 4 88941549 [T/C] NM_000297 PKD2 Silent rs2725225 4 88952076 [T/C] NM_000297 PKD2 Silent exm412650 4 88957414 [A/G] NM_000297 PKD2 EXON Missense_R251Q exm412652 4 88957446 [A/G] NM_000297 PKD2 EXON Missense_V262M exm412659 4 88959451 [A/G] NM_000297 PKD2 EXON Missense_S298G rs2725220 4 88959922 [G/C] NM_000297 PKD2 Silent rs2725215 4 88961571 [T/C] NM_000297 PKD2 Silent rs2728108 4 88961736 [A/C] NM_000297 PKD2 Silent variant.81954 4 88964545 [A/G] NM_000297 PKD2 EXON Missense_T419A exm412679 4 88967828 [A/G] NM_000297 PKD2 EXON Missense_I452V kgp21092247 4 88967833 [A/G] NM_000297 PKD2 EXON Synonymous_P453P exm412686 4 88967919 [T/G] NM_000297 PKD2 EXON Missense_F482C exm412692 4 88968020 [T/G] NM_000297 PKD2 EXON Missense_V516L newrs138476749 4 88979203 [T/G] NM_000297 PKD2 EXON Missense_L656W kgp29487550 4 88986541 [T/C] NM_000297 PKD2 EXON Synonymous_L712L kgp29016451 4 88986968 [T/C] NM_000297 PKD2 EXON Synonymous_D765D rs4336187 4 88987916 [A/G] NM_000297 PKD2 Silent exm412738 4 88989089 [A/C] NM_000297 PKD2 EXON Missense_M800L exm412740 4 88989102 [A/G] NM_000297 PKD2 EXON Missense_S804N exm412741 4 88989111 [A/G] NM_000297 PKD2 EXON Missense_R807Q variant.81959 4 88995974 [T/C] NM_000297 PKD2 EXON Nonsense_R845X exm412755 4 88996626 [A/G] NM_000297 PKD2 EXON Missense_R896H exm412756 4 88996659 [A/G] NM_000297 PKD2 EXON Missense_R907Q exm412757 4 88996664 [A/G] NM_000297 PKD2 EXON Missense_V909I exm412765 4 88996805 [A/G] NM_000297 PKD2 EXON Missense_E956K rs2728121 4 88997102 [T/C] NM_000297 PKD2 EXON Silent kgp2167671 4 88998083 [A/G] NM_000297 PKD2 EXON Silent kgp29133008 4 88998878 [A/C] NM_000297 PKD2 EXON Silent kgp2173069 4 89011474 [T/C] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Silent,Silent kgp20836098 4 89011660 [T/C] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Silent,Silent rs10030206 4 89012091 [T/A] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Silent,Silent rs1448784 4 89012320 [A/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Silent,Silent kgp7288675 4 89012650 [A/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Silent,Silent exm412774 4 89013496 [T/C] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_D620N,Silent exm412777 4 89015728 [T/C] NM_004827,NM_001257386 ABCG2,ABCG2 Silent,Silent exm412780 4 89015781 [T/A] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_N590Y,Missense_K586N rs2725267 4 89016175 [A/G] NM_004827,NM_001257386 ABCG2,ABCG2 Silent,Silent variant.81962 4 89016686 [A/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Nonsense_R575X,Synonymous_H571H rs9282571 4 89016698 [A/T] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_F571I,Synonymous_T567T exm412786 4 89018628 [T/C] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_T542A,Missense_T542A exm412787 4 89018670 [T/C] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_A528T,Missense_A528T indel.81963 4 89018737 [D/I] NM_004827,NM_001257386 ABCG2,ABCG2 EXON exm2241428 4 89020503 [A/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_F489L,Missense_F489L variant.81966 4 89020602 [T/G] NM_004827,NM_001257386 ABCG2,ABCG2 Silent,Silent exm2261774 4 89026109 [T/C] NM_004827,NM_001257386 ABCG2,ABCG2 Silent,Silent variant.81967 4 89034455 [T/C] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Synonymous_Q398Q,Synonymous_Q398Q indel.81968 4 89034585 [D/I] NM_004827,NM_001257386 ABCG2,ABCG2 EXON rs3201997 4 89034649 [A/C] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Nonsense_E334X,Nonsense_E334X exm412814 4 89036115 [A/C] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_F313V,Missense_F313V exm2081802 4 89036155 [A/C] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_N299K,Missense_N299K exm412816 4 89036161 [C/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_I297M,Missense_I297M rs3116448 4 89039360 [A/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_S248P,Missense_S248P variant.81970 4 89039366 [A/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Nonsense_R246X,Nonsense_R246X newrs140207606 4 89039396 [A/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Nonsense_R236X,Nonsense_R236X rs1871744 4 89039629 [T/C] NM_004827,NM_001257386 ABCG2,ABCG2 Silent,Silent rs1061018 4 89042853 [A/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_F208S,Missense_F208S rs12721643 4 89042860 [T/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_I206L,Missense_I206L rs2725256 4 89050998 [A/G] NM_004827,NM_001257386 ABCG2,ABCG2 Silent,Silent exm412839 4 89052266 [A/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_R160W,Missense_R160W kgp2887248 4 89052323 [T/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_Q141K,Missense_Q141K variant.81972 4 89052954 [T/C] NM_004827,NM_001257386 ABCG2,ABCG2 Silent,Silent exm2081817 4 89052957 [A/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Nonsense_Q126X,Nonsense_Q126X exm412850 4 89052998 [T/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_P112Q,Missense_P112Q variant.81974 4 89053728 [A/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_S88L,Missense_S88L exm412856 4 89053728 [A/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_S88L,Missense_S88L exm412860 4 89053780 [T/C] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_M71V,Missense_M71V rs17013859 4 89054486 [T/C] NM_004827,NM_001257386 ABCG2,ABCG2 Silent,Silent rs4148153 4 89056715 [A/G] NM_004827,NM_001257386 ABCG2,ABCG2 Silent,Silent exm412867 4 89061083 [A/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_A22V,Missense_A22V exm412870 4 89061114 [T/C] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Missense_V12M,Missense_V12M rs4148149 4 89062285 [T/G] NM_004827,NM_001257386 ABCG2,ABCG2 Silent,Silent rs13137622 4 89062513 [T/G] NM_004827,NM_001257386 ABCG2,ABCG2 Silent,Silent rs6857600 4 89066075 [T/C] NM_004827,NM_001257386 ABCG2,ABCG2 Silent,Silent rs2622626 4 89066715 [A/C] NM_004827,NM_001257386 ABCG2,ABCG2 Silent,Silent kgp22834169 4 89079780 [A/G] NM_004827,NM_001257386 ABCG2,ABCG2 EXON Silent,Silent rs3114019 4 89081441 [T/C] NM_001257386 ABCG2 Silent rs3114020 4 89083666 [T/C] NM_001257386 ABCG2 Silent rs10011796 4 89090877 [T/C] NM_001257386 ABCG2 Silent rs7658584 4 89096641 [A/G] NM_001257386 ABCG2 Silent rs2127863 4 89111468 [T/C] NM_001257386 ABCG2 Silent rs10856870 4 89119659 [T/C] NM_001257386 ABCG2 Silent rs11723264 4 89129484 [A/G] NM_001257386 ABCG2 Silent rs4693935 4 89139275 [A/G] NM_001257386 ABCG2 Silent rs2904185 4 89139832 [T/C] NM_001257386 ABCG2 Silent rs9307048 4 89149570 [T/C] NM_001257386 ABCG2 Silent rs1114568 4 89159819 [A/G] rs13120819 4 89160677 [A/G] exm412877 4 89183809 [T/C] NM_152542 PPM1K EXON Missense_K353E exm412883 4 89186179 [T/C] NM_152542 PPM1K EXON Missense_E321K exm412887 4 89186282 [A/C] NM_152542 PPM1K EXON Missense_H286Q exm412896 4 89189930 [T/C] NM_152542 PPM1K EXON Missense_I224V exm412898 4 89189971 [T/C] NM_152542 PPM1K EXON Missense_R210Q rs7682161 4 89191346 [T/C] NM_152542 PPM1K Silent exm412906 4 89198355 [T/C] NM_152542 PPM1K EXON Missense_T161A exm412909 4 89199300 [T/C] NM_152542 PPM1K EXON Missense_I146V exm2274036 4 89199384 [C/G] NM_152542 PPM1K EXON Missense_D118H exm412917 4 89199444 [T/C] NM_152542 PPM1K EXON Missense_A98T rs7661312 4 89201007 [T/G] NM_152542 PPM1K Silent rs881561 4 89203042 [A/G] NM_152542 PPM1K Silent exm-rs893971 4 89203670 [A/G] NM_152542 PPM1K Silent rs12641788 4 89222164 [T/C] rs1440581 4 89226422 [T/C] rs17013995 4 89227094 [A/G] rs17789621 4 89227121 [T/C] rs6841731 4 89228928 [A/G] rs10022462 4 89243818 [T/C] rs10001661 4 89249372 [A/G] rs12512051 4 89252068 [T/C] rs7657298 4 89253079 [T/C] rs17014050 4 89258623 [T/C] rs4693953 4 89270121 [T/C] rs4693954 4 89277494 [A/C] rs9968290 4 89281683 [T/G] rs4693212 4 89283496 [T/C] rs12651141 4 89287709 [A/G] exm412934 4 89300101 [A/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_R10G,Missense_R10G exm412948 4 89306659 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_M123T,Missense_M123T exm412955 4 89311962 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_C199R,Missense_C199R exm412957 4 89311994 [A/T] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_S209R,Missense_S209R exm412961 4 89312020 [A/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_R218H,Missense_R218H exm412966 4 89314687 [A/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_V238M,Missense_V238M exm412978 4 89319296 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_F343L,Missense_F343L variant.81979 4 89326026 [A/G] NM_001165136,NM_017912 HERC6,HERC6 Silent,Silent exm412983 4 89326043 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_R370C,Missense_R370C exm412989 4 89334241 [C/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_L461V,Missense_L461V indel.81980 4 89334258 [I/D] NM_001165136,NM_017912 HERC6,HERC6 EXON exm412991 4 89334266 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_L469P,Missense_L469P exm412998 4 89338691 [A/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_N558S,Missense_N558S exm412999 4 89338731 [T/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_K571N,Missense_K571N rs7670637 4 89342976 [T/C] NM_001165136,NM_017912 HERC6,HERC6 Silent,Silent exm413000 4 89345031 [A/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_R578Q,Missense_R578Q exm413001 4 89345049 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_F584S,Missense_F584S exm413003 4 89345760 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Silent,Missense_T614I exm-IND4-89568841 4 89349818 [I/D] NM_001165136,NM_017912 HERC6,HERC6 EXON exm413016 4 89352378 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_M688T,Missense_M724T exm413017 4 89352440 [A/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_M709L,Missense_M745L rs10006830 4 89355103 [T/C] NM_001165136,NM_017912 HERC6,HERC6 Silent,Silent indel.81984 4 89357036 [I/D] NM_001165136,NM_017912 HERC6,HERC6 EXON exm413020 4 89358080 [A/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_D778A,Missense_D814A exm413021 4 89358083 [A/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_A779D,Missense_A815D exm413025 4 89361055 [A/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_Y826C,Missense_Y862C var_4_89361110 4 89361111 [D/I] NM_001165136,NM_017912 HERC6,HERC6 EXON exm413027 4 89361144 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_Y856H,Missense_Y892H variant.81986 4 89361194 [A/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Nonsense_W872X,Nonsense_W908X exm413034 4 89363401 [A/G] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_R917H,Missense_R953H exm413037 4 89363512 [A/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Missense_S954Y,Missense_S990Y indel.81989 4 89363522 [D/I] NM_001165136,NM_017912 HERC6,HERC6 EXON newrs4413373 4 89363604 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Nonsense_Q985X,Nonsense_Q1021X exm413040 4 89363604 [T/C] NM_001165136,NM_017912 HERC6,HERC6 EXON Nonsense_Q985X,Nonsense_Q1021X exm413046 4 89380540 [A/G] NM_016323 HERC5 EXON Missense_D103G variant.81992 4 89384779 [A/G] NM_016323 HERC5 Silent indel.81993 4 89385072 [D/I] NM_016323 HERC5 EXON exm413067 4 89385126 [A/G] NM_016323 HERC5 EXON Missense_A301T exm413068 4 89385130 [C/G] NM_016323 HERC5 EXON Missense_C302S indel.81994 4 89388208 [D/I] NM_016323 HERC5 newrs144890220 4 89388355 [A/G] NM_016323 HERC5 EXON Missense_E353K exm413076 4 89389555 [C/G] NM_016323 HERC5 EXON Missense_L372F rs4585264 4 89389640 [A/C] NM_016323 HERC5 Silent exm413084 4 89390403 [G/C] NM_016323 HERC5 EXON Missense_S410R exm413095 4 89393651 [A/G] NM_016323 HERC5 EXON Missense_M464V exm413100 4 89397091 [A/G] NM_016323 HERC5 EXON Missense_M498V exm413110 4 89407282 [A/G] NM_016323 HERC5 EXON Missense_C585Y exm413112 4 89407326 [T/C] NM_016323 HERC5 EXON Missense_R600C exm413113 4 89408247 [A/G] NM_016323 HERC5 EXON Missense_V627I exm413125 4 89414196 [A/G] NM_016323 HERC5 EXON Missense_G723R exm413126 4 89414248 [T/C] NM_016323 HERC5 EXON Missense_P740L exm413131 4 89414283 [T/C] NM_016323 HERC5 EXON Missense_S752P rs10516809 4 89421086 [A/G] NM_016323 HERC5 EXON Synonymous_Q818Q exm413155 4 89425507 [A/G] NM_016323 HERC5 EXON Missense_E903K indel.82001 4 89425682 [D/I] NM_016323 HERC5 EXON exm2241435 4 89426973 [G/C] NM_016323 HERC5 EXON Missense_E1007Q exm413171 4 89442790 [T/C] NM_001042616,NM_032906 PIGY,PYURF EXON Missense_I51V,Silent exm413177 4 89442921 [A/G] NM_001042616,NM_032906 PIGY,PYURF EXON Missense_T7M,Silent exm413178 4 89442924 [C/G] NM_001042616,NM_032906 PIGY,PYURF EXON Missense_P6R,Silent rs3846281 4 89451509 [A/C] rs7435410 4 89456219 [A/G] rs11736472 4 89458051 [A/G] rs17014220 4 89477899 [A/G] rs6850944 4 89482021 [T/C] rs7671998 4 89494828 [T/C] rs6857847 4 89514572 [A/G] NM_001271602,NM_014606 HERC3,HERC3 Silent,Silent rs3822084 4 89522699 [T/G] NM_001271602,NM_014606 HERC3,HERC3 Silent,Silent rs2924942 4 89532682 [A/G] NM_001271602,NM_014606 HERC3,HERC3 Silent,Silent rs11935902 4 89539581 [A/G] NM_001271602,NM_014606 HERC3,HERC3 Silent,Silent rs2972023 4 89555107 [A/G] NM_001271602,NM_014606 HERC3,HERC3 Silent,Silent exm2241436 4 89577147 [T/C] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_Y226H,Missense_Y344H exm413224 4 89583660 [A/G] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_V291I,Missense_V409I exm413227 4 89583691 [A/G] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_N301S,Missense_N419S indel.82003 4 89599135 [D/I] NM_001271602,NM_014606 HERC3,HERC3 EXON exm413263 4 89601275 [T/C] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_A625V,Missense_A743V variant.82004 4 89601387 [A/G] NM_001271602,NM_014606 HERC3,HERC3 EXON Synonymous_T662T,Synonymous_T780T exm413269 4 89602346 [A/G] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_I675V,Missense_I793V exm413271 4 89602427 [T/G] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_V702L,Missense_V820L rs3737488 4 89607905 [A/G] NM_001271602,NM_014606 HERC3,HERC3 EXON Synonymous_L724L,Synonymous_L842L exm413278 4 89607952 [T/C] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_T740M,Missense_T858M exm413282 4 89608392 [A/G] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_I749V,Missense_I867V exm2241437 4 89618372 [A/C] NM_001271602,NM_014606,NM_153757 HERC3,HERC3,NAP1L5 EXON Silent,Silent,Missense_D178E exm413286 4 89618396 [G/C] NM_001271602,NM_014606,NM_153757 HERC3,HERC3,NAP1L5 EXON Silent,Silent,Missense_D170E exm413301 4 89618712 [T/G] NM_001271602,NM_014606,NM_153757 HERC3,HERC3,NAP1L5 EXON Silent,Silent,Missense_P65Q exm413302 4 89618713 [A/G] NM_001271602,NM_014606,NM_153757 HERC3,HERC3,NAP1L5 EXON Silent,Silent,Missense_P65S exm2241438 4 89618768 [G/C] NM_001271602,NM_014606,NM_153757 HERC3,HERC3,NAP1L5 EXON Silent,Silent,Missense_S46R rs2924924 4 89622904 [T/G] NM_001271602,NM_014606 HERC3,HERC3 Silent,Silent exm413323 4 89625388 [T/A] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_M815L,Missense_M933L exm413325 4 89625427 [G/C] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_E828Q,Missense_E946Q exm413328 4 89625689 [A/G] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_T840A,Missense_T958A exm413334 4 89628051 [G/C] NM_001271602,NM_014606 HERC3,HERC3 EXON Missense_E913D,Missense_E1031D rs2860408 4 89639032 [A/G] NR_002806 FAM13A-AS1 Silent rs2860500 4 89647070 [T/C] NR_002806 FAM13A-AS1 Silent exm413356 4 89653153 [A/G] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_I948T,Missense_I594T,Missense_I594T,Missense_I608T,Missense_I622T exm413358 4 89653205 [A/G] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_P931S,Missense_P577S,Missense_P577S,Missense_P591S,Missense_P605S rs1801915 4 89653257 [A/G] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Synonymous_D913D,Synonymous_D559D,Synonymous_D559D,Synonymous_D573D,Synonymous_D587D exm413366 4 89658706 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_G855S,Silent,Missense_G501S,Missense_G515S,Missense_G529S exm413371 4 89660221 [A/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_V841G,Missense_V515G,Missense_V487G,Missense_V501G,Missense_V515G exm413373 4 89660254 [A/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_V830G,Missense_V504G,Missense_V476G,Missense_V490G,Missense_V504G exm413376 4 89668083 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Synonymous_P822P,Synonymous_P496P,Synonymous_P468P,Synonymous_P482P,Synonymous_P496P exm413378 4 89668088 [A/G] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_R821W,Missense_R495W,Missense_R467W,Missense_R481W,Missense_R495W variant.82008 4 89668777 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A Silent,Silent,Silent,Silent,Silent exm413381 4 89668798 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_R789H,Missense_R463H,Missense_R435H,Missense_R449H,Missense_R463H exm413384 4 89668816 [T/A] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_K783M,Missense_K457M,Missense_K429M,Missense_K443M,Missense_K457M exm413388 4 89668859 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_V769I,Missense_V443I,Missense_V415I,Missense_V429I,Missense_V443I exm2256777 4 89670155 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Synonymous_P703P,Synonymous_P377P,Synonymous_P349P,Synonymous_P363P,Synonymous_P377P rs3756050 4 89670155 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Synonymous_P703P,Synonymous_P377P,Synonymous_P349P,Synonymous_P363P,Synonymous_P377P variant.82009 4 89670993 [A/G] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Nonsense_R670X,Nonsense_R344X,Nonsense_R316X,Nonsense_R330X,Nonsense_R344X exm413401 4 89671058 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_R648Q,Missense_R322Q,Missense_R294Q,Missense_R308Q,Missense_R322Q newrs148165624 4 89671574 [A/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A Silent,Silent,Silent,Silent,Silent exm413406 4 89671591 [A/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_S642A,Missense_S316A,Missense_S288A,Missense_S302A,Missense_S316A rs7662156 4 89672805 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A Silent,Silent,Silent,Silent,Silent exm413425 4 89680051 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_S527N,Missense_S201N,Missense_S173N,Missense_S187N,Missense_S201N rs17014513 4 89684640 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A Silent,Silent,Silent,Silent,Silent rs3816453 4 89693098 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A Silent,Silent,Silent,Silent,Silent exm413434 4 89702464 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_N437S,Missense_N111S,Missense_N83S,Missense_N97S,Missense_N111S exm413435 4 89702495 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_I427V,Missense_I101V,Missense_I73V,Missense_I87V,Missense_I101V exm413440 4 89708947 [A/G] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A EXON Missense_R410C,Missense_R84C,Missense_R56C,Missense_R70C,Missense_R84C variant.82013 4 89709085 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A Silent,Silent,Silent,Silent,Silent rs2290781 4 89711854 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A Silent,Silent,Silent,Silent,Silent rs9991328 4 89713121 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A Silent,Silent,Silent,Silent,Silent rs7680994 4 89717990 [A/G] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A Silent,Silent,Silent,Silent,Silent rs3775380 4 89739808 [A/G] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A Silent,Silent,Silent,Silent,Silent exm-rs13133548 4 89740128 [A/G] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A Silent,Silent,Silent,Silent,Silent rs2869950 4 89742764 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A Silent,Silent,Silent,Silent,Silent exm2269794 4 89742764 [T/C] NM_014883,NM_001265579,NM_001265580,NM_001265578,NM_001015045 FAM13A,FAM13A,FAM13A,FAM13A,FAM13A Silent,Silent,Silent,Silent,Silent rs7660000 4 89751858 [T/C] NM_014883 FAM13A Silent rs7698655 4 89756076 [A/G] NM_014883 FAM13A Silent rs10461165 4 89770583 [A/G] NM_014883 FAM13A Silent exm413464 4 89772246 [T/C] NM_014883 FAM13A EXON Missense_R311Q exm2082068 4 89772286 [A/G] NM_014883 FAM13A EXON Nonsense_Q298X exm413466 4 89772301 [A/C] NM_014883 FAM13A EXON Missense_A293S exm413468 4 89772321 [T/C] NM_014883 FAM13A EXON Missense_R286K rs11735482 4 89776246 [T/C] NM_014883 FAM13A Silent rs6830970 4 89777081 [A/G] NM_014883 FAM13A Silent rs10049947 4 89790593 [T/C] NM_014883 FAM13A Silent rs17816002 4 89798954 [A/C] NM_014883 FAM13A Silent rs2609264 4 89828080 [T/C] NM_014883 FAM13A Silent rs4693976 4 89839840 [T/C] NM_014883 FAM13A Silent rs2704588 4 89849772 [T/C] NM_014883 FAM13A Silent rs1458562 4 89853598 [T/C] NM_014883 FAM13A Silent indel.82015 4 89859336 [D/I] NM_014883 FAM13A EXON rs987314 4 89862169 [A/G] NM_014883 FAM13A Silent rs2869966 4 89869078 [T/C] NM_014883 FAM13A Silent exm-rs7671167 4 89883979 [T/C] NM_014883 FAM13A Silent rs7671167 4 89883979 [T/C] NM_014883 FAM13A Silent rs1903003 4 89886297 [T/C] NM_014883 FAM13A Silent rs2085601 4 89895944 [A/C] NM_014883 FAM13A Silent rs6838424 4 89896036 [A/G] NM_014883 FAM13A Silent rs16996144 4 89897522 [A/G] NM_014883 FAM13A Silent rs11737182 4 89898476 [T/C] NM_014883 FAM13A Silent exm413479 4 89912172 [T/C] NM_014883 FAM13A EXON Missense_R186H exm413480 4 89912173 [A/G] NM_014883 FAM13A EXON Missense_R186C exm413481 4 89912184 [T/C] NM_014883 FAM13A EXON Missense_H182R exm413482 4 89912193 [A/G] NM_014883 FAM13A EXON Missense_A179V exm413485 4 89912303 [T/C] NM_014883 FAM13A Silent rs10007590 4 89917135 [A/G] NM_014883 FAM13A Silent rs6849143 4 89928489 [T/C] NM_014883 FAM13A Silent rs1398942 4 89930392 [A/G] NM_014883 FAM13A Silent rs1795734 4 89933630 [A/C] NM_014883 FAM13A Silent exm413492 4 89941734 [T/C] NM_014883 FAM13A EXON Missense_V102M rs9993181 4 89945459 [T/C] NM_014883 FAM13A Silent exm413496 4 89950680 [A/G] NM_014883 FAM13A EXON Missense_R50W exm413499 4 89950787 [A/G] NM_014883 FAM13A EXON Missense_A14V rs1588730 4 89955623 [A/G] NM_014883 FAM13A Silent rs1533291 4 89964456 [T/C] NM_014883 FAM13A Silent rs6826407 4 89975033 [T/C] NM_014883 FAM13A Silent rs1795731 4 89976882 [T/C] NM_014883 FAM13A Silent exm-rs16996151 4 89978800 [A/C] rs6845151 4 89992190 [T/C] rs9790655 4 89992347 [T/C] rs13148714 4 90002785 [A/G] rs12649385 4 90010941 [T/C] rs6825998 4 90011642 [T/C] rs7440590 4 90028412 [T/C] rs17015025 4 90034030 [A/G] NM_145715 TIGD2 EXON Silent exm413509 4 90034309 [A/G] NM_145715 TIGD2 EXON Missense_T62A exm413516 4 90034595 [A/G] NM_145715 TIGD2 EXON Missense_G157D variant.82021 4 90034636 [T/G] NM_145715 TIGD2 EXON Nonsense_E171X exm413521 4 90034730 [A/G] NM_145715 TIGD2 EXON Missense_C202Y exm413531 4 90035063 [A/G] NM_145715 TIGD2 EXON Missense_K313R exm413533 4 90035083 [A/G] NM_145715 TIGD2 EXON Missense_T320A variant.82022 4 90035095 [T/C] NM_145715 TIGD2 EXON Nonsense_Q324X exm413539 4 90035221 [A/G] NM_145715 TIGD2 EXON Missense_I366V exm2241444 4 90035314 [A/G] NM_145715 TIGD2 EXON Missense_G397S exm413542 4 90035348 [A/C] NM_145715 TIGD2 EXON Missense_A408D exm413548 4 90035428 [T/C] NM_145715 TIGD2 EXON Missense_R435W exm413551 4 90035549 [A/G] NM_145715 TIGD2 EXON Missense_H475R exm413553 4 90035669 [A/C] NM_145715 TIGD2 EXON Missense_K515T exm413555 4 90035697 [T/G] NM_145715 TIGD2 EXON Missense_N524K rs12645173 4 90036099 [A/G] rs4367140 4 90044292 [A/C] rs7687207 4 90049968 [A/G] rs1398944 4 90057814 [A/G] rs7690336 4 90062409 [A/G] rs756227 4 90069964 [T/C] rs756345 4 90073214 [A/G] rs6532123 4 90091547 [A/G] rs636446 4 90100155 [T/C] rs6832231 4 90102682 [A/G] rs2116325 4 90115197 [T/C] rs11734085 4 90116188 [A/G] rs13353765 4 90116432 [T/C] rs499411 4 90133795 [T/C] rs518156 4 90137336 [A/C] rs9307064 4 90146649 [A/G] rs17773361 4 90149589 [A/C] rs1978673 4 90152565 [T/C] rs7660707 4 90161863 [T/C] rs891674 4 90166159 [A/G] NM_198281 GPRIN3 EXON Silent rs6532146 4 90166778 [A/C] NM_198281 GPRIN3 EXON Silent exm2269795 4 90168572 [T/C] NM_198281 GPRIN3 EXON Silent exm413560 4 90168945 [A/C] NM_198281 GPRIN3 EXON Missense_S773A exm413562 4 90168959 [T/C] NM_198281 GPRIN3 EXON Missense_R768H exm413564 4 90169011 [T/G] NM_198281 GPRIN3 EXON Missense_S751R exm413567 4 90169025 [T/C] NM_198281 GPRIN3 EXON Missense_R746K exm413568 4 90169041 [A/C] NM_198281 GPRIN3 EXON Missense_S741A exm413569 4 90169070 [T/G] NM_198281 GPRIN3 EXON Missense_T731N exm413575 4 90169257 [A/C] NM_198281 GPRIN3 EXON Missense_A669S exm413586 4 90169414 [T/G] NM_198281 GPRIN3 EXON Missense_S616R exm413587 4 90169424 [T/C] NM_198281 GPRIN3 EXON Missense_G613D exm413595 4 90169658 [T/G] NM_198281 GPRIN3 EXON Missense_A535E exm413597 4 90169684 [C/G] NM_198281 GPRIN3 EXON Missense_S526R exm413601 4 90169776 [A/C] NM_198281 GPRIN3 EXON Missense_A496S exm413608 4 90169848 [A/G] NM_198281 GPRIN3 EXON Missense_S472P exm413609 4 90169852 [C/G] NM_198281 GPRIN3 EXON Missense_Q470H indel.82026 4 90169924 [D/I] NM_198281 GPRIN3 EXON rs7653897 4 90169925 [A/G] NM_198281 GPRIN3 EXON Missense_V446A exm413616 4 90169925 [A/G] NM_198281 GPRIN3 EXON Missense_V446A exm413617 4 90169946 [T/C] NM_198281 GPRIN3 EXON Missense_R439K indel.82027 4 90169960 [I/D] NM_198281 GPRIN3 EXON exm413620 4 90170015 [A/C] NM_198281 GPRIN3 EXON Missense_G416V exm413623 4 90170046 [A/G] NM_198281 GPRIN3 EXON Missense_R406W exm413626 4 90170094 [A/G] NM_198281 GPRIN3 EXON Missense_P390S exm413627 4 90170097 [T/G] NM_198281 GPRIN3 EXON Missense_M389L exm413631 4 90170118 [A/G] NM_198281 GPRIN3 EXON Missense_S382P exm413632 4 90170129 [A/G] NM_198281 GPRIN3 EXON Missense_A378V exm413634 4 90170170 [T/G] NM_198281 GPRIN3 EXON Missense_S364R indel.82028 4 90170203 [I/D] NM_198281 GPRIN3 EXON exm413646 4 90170393 [T/C] NM_198281 GPRIN3 EXON Missense_R290H exm413648 4 90170426 [A/G] NM_198281 GPRIN3 EXON Missense_P279L exm413649 4 90170438 [A/G] NM_198281 GPRIN3 EXON Missense_S275L exm413656 4 90170543 [T/C] NM_198281 GPRIN3 EXON Missense_R240K exm413659 4 90170625 [T/A] NM_198281 GPRIN3 EXON Missense_S213T exm2082129 4 90170669 [A/G] NM_198281 GPRIN3 EXON Missense_T198I exm413663 4 90170672 [T/C] NM_198281 GPRIN3 EXON Missense_G197E exm413665 4 90170724 [T/C] NM_198281 GPRIN3 EXON Missense_S180G exm413670 4 90170817 [T/A] NM_198281 GPRIN3 EXON Missense_S149T exm413678 4 90170951 [C/G] NM_198281 GPRIN3 EXON Missense_G104A exm413679 4 90170970 [T/C] NM_198281 GPRIN3 EXON Missense_G98S exm413687 4 90171057 [A/C] NM_198281 GPRIN3 EXON Missense_C69G exm413688 4 90171060 [A/C] NM_198281 GPRIN3 EXON Missense_V68F exm413689 4 90171075 [T/C] NM_198281 GPRIN3 EXON Missense_E63K exm413693 4 90171113 [A/G] NM_198281 GPRIN3 EXON Missense_A50V exm413696 4 90171147 [C/G] NM_198281 GPRIN3 EXON Missense_L39V exm413698 4 90171162 [A/G] NM_198281 GPRIN3 EXON Missense_R34W exm413703 4 90171195 [T/C] NM_198281 GPRIN3 EXON Missense_D23N rs6532149 4 90180437 [A/C] NM_198281 GPRIN3 Silent rs6830724 4 90193727 [T/C] NM_198281 GPRIN3 Silent exm2261776 4 90198463 [T/C] NM_198281 GPRIN3 Silent rs17015332 4 90207602 [T/C] NM_198281 GPRIN3 Silent rs1079070 4 90211918 [T/C] NM_198281 GPRIN3 Silent rs1019875 4 90214108 [T/C] NM_198281 GPRIN3 Silent rs7687888 4 90216747 [T/G] NM_198281 GPRIN3 Silent rs7653939 4 90227469 [A/G] NM_198281 GPRIN3 Silent rs17015404 4 90228238 [T/C] NM_198281 GPRIN3 Silent rs13104039 4 90241029 [T/G] rs10027938 4 90242059 [A/G] rs4106153 4 90244476 [A/C] rs1463908 4 90255167 [A/G] rs1875863 4 90256211 [T/C] rs17015445 4 90259075 [A/G] rs17015458 4 90271894 [A/G] rs6846715 4 90280688 [A/G] rs6821767 4 90285544 [T/G] rs6827974 4 90306233 [A/G] rs1910679 4 90310693 [A/G] kgp10808309 4 90311105 [A/G] rs772492 4 90372566 [T/C] rs772494 4 90373071 [T/C] rs772496 4 90373435 [A/G] rs772501 4 90375951 [T/C] rs1495553 4 90389965 [T/C] rs2172894 4 90404465 [T/C] rs17015658 4 90408036 [A/C] rs1495552 4 90429040 [T/G] rs903600 4 90430695 [T/C] rs17015738 4 90439694 [T/C] rs11097225 4 90441824 [T/G] rs1495555 4 90455728 [A/G] rs1495556 4 90458283 [T/C] rs17015756 4 90458351 [A/G] rs4147250 4 90461313 [T/C] rs17780881 4 90478149 [T/C] rs1156115 4 90492766 [T/C] rs1495557 4 90494272 [A/G] rs2870006 4 90495946 [A/G] rs6852411 4 90522480 [A/C] rs17015895 4 90527778 [T/C] rs1430961 4 90552920 [A/G] rs3733449 4 90572322 [T/C] rs9992727 4 90584840 [T/C] rs10213062 4 90600620 [T/C] rs356174 4 90630901 [T/G] exm-rs356219 4 90637601 [A/G] exm-rs11931074 4 90639515 [T/G] exm-rs356220 4 90641340 [T/C] rs356220 4 90641340 [T/C] rs8180209 4 90644454 [A/G] indel.82030 4 90650387 [I/D] NM_001146054,NM_000345,NM_001146055,NM_007308 SNCA,SNCA,SNCA,SNCA EXON exm-rs2736990 4 90678541 [A/G] NM_001146054,NM_000345,NM_001146055,NM_007308 SNCA,SNCA,SNCA,SNCA Silent,Silent,Silent,Silent rs2736990 4 90678541 [A/G] NM_001146054,NM_000345,NM_001146055,NM_007308 SNCA,SNCA,SNCA,SNCA Silent,Silent,Silent,Silent rs3775439 4 90709741 [A/G] NM_001146054,NM_000345,NM_001146055,NM_007308 SNCA,SNCA,SNCA,SNCA Silent,Silent,Silent,Silent rs10014396 4 90712629 [T/C] NM_001146054,NM_000345,NM_001146055,NM_007308 SNCA,SNCA,SNCA,SNCA Silent,Silent,Silent,Silent rs3775442 4 90715231 [T/C] NM_001146054,NM_000345,NM_001146055,NM_007308 SNCA,SNCA,SNCA,SNCA Silent,Silent,Silent,Silent rs3889917 4 90716852 [T/C] NM_001146054,NM_000345,NM_001146055,NM_007308 SNCA,SNCA,SNCA,SNCA Silent,Silent,Silent,Silent rs894278 4 90734535 [T/G] NM_001146054,NM_000345,NM_001146055,NM_007308 SNCA,SNCA,SNCA,SNCA Silent,Silent,Silent,Silent rs1442144 4 90736113 [T/C] NM_001146054,NM_000345,NM_001146055,NM_007308 SNCA,SNCA,SNCA,SNCA Silent,Silent,Silent,Silent rs1812923 4 90739539 [A/C] NM_001146054,NM_000345,NM_001146055,NM_007308 SNCA,SNCA,SNCA,SNCA Silent,Silent,Silent,Silent exm2241445 4 90756702 [A/C] NM_001146054,NM_000345,NM_001146055,NM_007308 SNCA,SNCA,SNCA,SNCA EXON Nonsense_Y39X,Nonsense_Y39X,Nonsense_Y39X,Nonsense_Y39X rs1023777 4 90761412 [T/C] NR_045481 LOC644248 Silent rs12331318 4 90770255 [T/C] rs17016279 4 90770408 [A/G] rs2737026 4 90779823 [A/G] rs10516849 4 90789539 [A/G] rs11097239 4 90795804 [A/C] exm-rs6532197 4 90797301 [A/G] exm413733 4 90816294 [A/G] NM_007351 MMRN1 EXON Missense_T58A exm413737 4 90816361 [A/C] NM_007351 MMRN1 EXON Missense_K80T exm413741 4 90816448 [A/T] NM_007351 MMRN1 EXON Missense_V109E indel.82031 4 90816452 [D/I] NM_007351 MMRN1 EXON exm413743 4 90816463 [T/A] NM_007351 MMRN1 EXON Missense_N114I exm413747 4 90816552 [A/C] NM_007351 MMRN1 EXON Missense_S144R exm2082158 4 90816679 [A/G] NM_007351 MMRN1 EXON Missense_R186Q exm2269796 4 90819154 [T/C] NM_007351 MMRN1 Silent rs3775465 4 90827466 [A/C] NM_007351 MMRN1 Silent variant.82032 4 90830509 [T/G] NM_007351 MMRN1 EXON Nonsense_G236X exm2082163 4 90830518 [A/G] NM_007351 MMRN1 EXON Missense_G239S exm413765 4 90833153 [A/G] NM_007351 MMRN1 EXON Missense_D268N exm413767 4 90833184 [T/C] NM_007351 MMRN1 EXON Missense_P278L rs9307077 4 90833372 [A/G] NM_007351 MMRN1 Silent rs3775478 4 90842840 [A/G] NM_007351 MMRN1 Silent variant.82033 4 90844317 [A/G] NM_007351 MMRN1 Silent exm413771 4 90844317 [A/G] NM_007351 MMRN1 Silent exm413772 4 90844376 [T/G] NM_007351 MMRN1 EXON Missense_G303V exm413775 4 90844405 [T/C] NM_007351 MMRN1 EXON Nonsense_Q313X newrs146692577 4 90844405 [T/C] NM_007351 MMRN1 EXON Nonsense_Q313X rs2241884 4 90844848 [A/G] NM_007351 MMRN1 Silent exm413789 4 90856063 [A/G] NM_007351 MMRN1 EXON Missense_K411R exm2256781 4 90856148 [T/C] NM_007351 MMRN1 EXON Synonymous_A439A exm2082179 4 90856148 [T/C] NM_007351 MMRN1 EXON Synonymous_A439A exm413801 4 90856377 [T/G] NM_007351 MMRN1 EXON Missense_V516L exm413802 4 90856383 [A/G] NM_007351 MMRN1 EXON Missense_E518K indel.82037 4 90856419 [I/D] NM_007351 MMRN1 EXON indel.82038 4 90856528 [I/D] NM_007351 MMRN1 EXON exm413807 4 90856564 [C/G] NM_007351 MMRN1 EXON Missense_T578S indel.82039 4 90856613 [D/I] NM_007351 MMRN1 EXON exm2082185 4 90856783 [A/C] NM_007351 MMRN1 EXON Missense_P651H exm413817 4 90856821 [A/G] NM_007351 MMRN1 EXON Missense_T664A exm413819 4 90856847 [A/G] NM_007351 MMRN1 EXON Missense_I672M exm413820 4 90856926 [T/C] NM_007351 MMRN1 EXON Missense_H699Y exm413823 4 90856975 [A/G] NM_007351 MMRN1 EXON Missense_R715K exm413831 4 90857143 [T/C] NM_007351 MMRN1 EXON Missense_T771I exm2241447 4 90857244 [A/G] NM_007351 MMRN1 EXON Missense_T805A exm413839 4 90857320 [T/C] NM_007351 MMRN1 EXON Missense_T830I exm413844 4 90857459 [T/A] NM_007351 MMRN1 EXON Nonsense_Y876X exm413847 4 90857479 [A/G] NM_007351 MMRN1 EXON Missense_G883D exm413849 4 90857514 [A/C] NM_007351 MMRN1 EXON Missense_Q895K exm413851 4 90857520 [A/C] NM_007351 MMRN1 EXON Missense_Q897K exm2256782 4 90857546 [A/G] NM_007351 MMRN1 EXON Synonymous_A905A exm413872 4 90857940 [A/G] NM_007351 MMRN1 EXON Missense_I1037V exm413877 4 90872808 [A/G] NM_007351 MMRN1 EXON Missense_I1057M exm413879 4 90872862 [A/C] NM_007351 MMRN1 EXON Missense_N1075K exm413880 4 90872869 [T/A] NM_007351 MMRN1 EXON Missense_I1078F exm413882 4 90872881 [A/G] NM_007351 MMRN1 EXON Missense_E1082K variant.82042 4 90874167 [A/C] NM_007351 MMRN1 EXON Nonsense_Y1095X exm413885 4 90874171 [T/C] NM_007351 MMRN1 EXON Missense_Y1097H exm413887 4 90874177 [T/C] NM_007351 MMRN1 EXON Missense_P1099S exm2256783 4 90874311 [A/G] NM_007351 MMRN1 EXON Synonymous_G1143G exm413902 4 90874460 [T/C] NM_007351 MMRN1 EXON Missense_L1193S indel.82044 4 90874530 [I/D] NM_007351 MMRN1 EXON exm2273395 4 90874879 [T/C] NM_007351 MMRN1 EXON Silent rs12233759 4 90880403 [A/G] rs10516854 4 90916437 [T/C] rs12507661 4 90923554 [T/C] rs6812321 4 90942824 [A/G] rs17808648 4 90947793 [T/G] rs13141923 4 90962886 [A/G] rs724454 4 90963446 [A/C] rs1443797 4 90968156 [A/G] rs722936 4 90971800 [A/C] rs13114320 4 90976413 [A/G] rs894803 4 90993172 [A/C] rs2197291 4 91000334 [T/C] rs34001515 4 91025850 [T/G] rs7674520 4 91033300 [T/C] rs12644131 4 91046719 [T/C] rs6837278 4 91069888 [A/G] NM_001145065 CCSER1 Silent rs10461168 4 91123665 [T/G] NM_001145065 CCSER1 Silent rs13109951 4 91123874 [A/G] NM_001145065 CCSER1 Silent rs4356886 4 91156917 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs10013360 4 91175600 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs13147804 4 91210048 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent exm2269797 4 91227681 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent exm413908 4 91229455 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_R7K,Missense_R7K exm413924 4 91229757 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_H108Y,Missense_H108Y exm413929 4 91229946 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_R171C,Missense_R171C exm413933 4 91230144 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_R237W,Missense_R237W exm413943 4 91230448 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_P338L,Missense_P338L exm413947 4 91230480 [T/A] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_L349I,Missense_L349I exm413951 4 91230579 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_G382S,Missense_G382S rs12647859 4 91230579 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_G382S,Missense_G382S exm413955 4 91230693 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_P420S,Missense_P420S exm413956 4 91230712 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_H426R,Missense_H426R exm2256784 4 91230713 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Synonymous_H426H,Synonymous_H426H indel.82045 4 91234098 [D/I] NM_001145065,NM_207491 CCSER1,CCSER1 EXON exm413964 4 91234118 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_P477S,Missense_P477S rs10015182 4 91253355 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs7693233 4 91254945 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs8180269 4 91271176 [T/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs4693236 4 91280571 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs17016910 4 91287204 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs17016912 4 91287263 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs6842950 4 91289294 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs1903577 4 91296454 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs7688033 4 91301321 [T/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs6834254 4 91319038 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent exm2261777 4 91340668 [T/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs6843585 4 91371416 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent exm413973 4 91389444 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_M555V,Missense_M555V rs6857926 4 91396305 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs10031148 4 91410243 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs17017104 4 91464162 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs6532233 4 91465389 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs6849123 4 91465511 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs10010423 4 91475787 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs2008600 4 91500284 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs1510795 4 91501614 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs17017214 4 91504238 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs10031325 4 91516040 [A/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs17017255 4 91524285 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs9884326 4 91532461 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs17017282 4 91535070 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs9790562 4 91546380 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent exm413976 4 91549288 [A/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_N613H,Missense_N613H rs950127 4 91567112 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs10014992 4 91568501 [T/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs2088386 4 91574795 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs1399409 4 91576994 [A/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs1567929 4 91591467 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs6856591 4 91607363 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs17017439 4 91630043 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs7660162 4 91633300 [A/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent exm413979 4 91645066 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_S645N,Missense_S645N exm413981 4 91645114 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 EXON Missense_P661L,Missense_P661L rs17017488 4 91653148 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs1355993 4 91661745 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs1399419 4 91664577 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs6532239 4 91674460 [A/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs6833239 4 91676401 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs1514742 4 91680245 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs1454329 4 91685949 [A/G] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs11727861 4 91700548 [T/C] NM_001145065,NM_207491 CCSER1,CCSER1 Silent,Silent rs1869539 4 91709484 [A/G] NM_001145065 CCSER1 Silent rs11932857 4 91715008 [A/G] NM_001145065 CCSER1 Silent rs10856879 4 91725803 [T/C] NM_001145065 CCSER1 Silent rs17187375 4 91732390 [A/G] NM_001145065 CCSER1 Silent rs17017652 4 91737500 [A/C] NM_001145065 CCSER1 Silent rs10516879 4 91740550 [T/C] NM_001145065 CCSER1 Silent rs17017704 4 91748644 [T/C] NM_001145065 CCSER1 Silent rs11725878 4 91764098 [A/G] NM_001145065 CCSER1 Silent rs6822939 4 91764932 [A/G] NM_001145065 CCSER1 Silent rs17195440 4 91772546 [A/G] NM_001145065 CCSER1 Silent rs11936158 4 91775333 [T/C] NM_001145065 CCSER1 Silent rs17248761 4 91775468 [A/G] NM_001145065 CCSER1 Silent rs10004104 4 91790439 [T/C] NM_001145065 CCSER1 Silent rs11946311 4 91816783 [A/G] NM_001145065 CCSER1 Silent rs6828263 4 91819988 [T/C] NM_001145065 CCSER1 Silent exm2269798 4 91826328 [T/C] NM_001145065 CCSER1 Silent rs17017809 4 91827528 [A/G] NM_001145065 CCSER1 Silent rs11097273 4 91828373 [A/C] NM_001145065 CCSER1 Silent rs7683238 4 91830496 [T/C] NM_001145065 CCSER1 Silent rs11721809 4 91830539 [T/G] NM_001145065 CCSER1 Silent rs10012191 4 91847796 [T/C] NM_001145065 CCSER1 Silent rs10433957 4 91866171 [T/C] NM_001145065 CCSER1 Silent rs11097282 4 91871784 [A/G] NM_001145065 CCSER1 Silent rs7672960 4 91884244 [A/G] NM_001145065 CCSER1 Silent rs6849036 4 91910883 [T/C] NM_001145065 CCSER1 Silent rs17265801 4 91911048 [A/G] NM_001145065 CCSER1 Silent rs17017905 4 91911659 [T/C] NM_001145065 CCSER1 Silent rs2035116 4 91917416 [A/G] NM_001145065 CCSER1 Silent rs17017923 4 91918870 [T/G] NM_001145065 CCSER1 Silent rs2035115 4 91925480 [A/G] NM_001145065 CCSER1 Silent rs6830306 4 91941868 [A/G] NM_001145065 CCSER1 Silent rs6819554 4 91952313 [T/C] NM_001145065 CCSER1 Silent rs1461605 4 91962013 [A/G] NM_001145065 CCSER1 Silent rs10516887 4 91962477 [T/C] NM_001145065 CCSER1 Silent rs1381294 4 91973424 [T/C] NM_001145065 CCSER1 Silent rs10009574 4 91989547 [A/G] NM_001145065 CCSER1 Silent rs7660020 4 91991096 [T/G] NM_001145065 CCSER1 Silent exm414001 4 92007129 [T/C] NM_001145065 CCSER1 EXON Missense_V734A rs12646841 4 92014627 [T/C] NM_001145065 CCSER1 Silent rs12508842 4 92017500 [T/C] NM_001145065 CCSER1 Silent rs17243008 4 92036269 [T/G] NM_001145065 CCSER1 Silent rs17018037 4 92038546 [T/C] NM_001145065 CCSER1 Silent rs11936964 4 92042065 [A/G] NM_001145065 CCSER1 Silent exm2261778 4 92063883 [T/C] NM_001145065 CCSER1 Silent rs1541365 4 92079569 [T/G] NM_001145065 CCSER1 Silent rs17268740 4 92114903 [A/G] NM_001145065 CCSER1 Silent rs872669 4 92141455 [A/C] NM_001145065 CCSER1 Silent rs13146287 4 92142940 [A/G] NM_001145065 CCSER1 Silent rs1544017 4 92159830 [A/G] NM_001145065 CCSER1 Silent rs1534559 4 92173030 [T/C] NM_001145065 CCSER1 Silent rs13151372 4 92178955 [T/C] NM_001145065 CCSER1 Silent rs9986071 4 92185156 [A/G] NM_001145065 CCSER1 Silent rs1969531 4 92225277 [A/G] NM_001145065 CCSER1 Silent rs11725743 4 92231314 [T/C] NM_001145065 CCSER1 Silent rs7693018 4 92238729 [A/C] NM_001145065 CCSER1 Silent rs6532290 4 92240925 [T/G] NM_001145065 CCSER1 Silent rs17018345 4 92244300 [T/C] NM_001145065 CCSER1 Silent rs6532299 4 92251839 [T/C] NM_001145065 CCSER1 Silent rs12507411 4 92281057 [A/C] NM_001145065 CCSER1 Silent rs4146582 4 92287101 [A/G] NM_001145065 CCSER1 Silent rs10856885 4 92309543 [T/C] NM_001145065 CCSER1 Silent rs6845679 4 92350342 [T/C] NM_001145065 CCSER1 Silent rs6824640 4 92354457 [T/C] NM_001145065 CCSER1 Silent rs1922216 4 92366263 [A/G] NM_001145065 CCSER1 Silent rs7675583 4 92399884 [T/C] NM_001145065 CCSER1 Silent rs6838229 4 92420171 [A/G] NM_001145065 CCSER1 Silent rs7677659 4 92431729 [T/C] NM_001145065 CCSER1 Silent rs1607075 4 92434672 [A/C] NM_001145065 CCSER1 Silent rs1516700 4 92451147 [A/C] NM_001145065 CCSER1 Silent rs6852056 4 92452205 [A/G] NM_001145065 CCSER1 Silent rs17283537 4 92454931 [A/G] NM_001145065 CCSER1 Silent rs6532317 4 92466958 [A/G] NM_001145065 CCSER1 Silent rs12152593 4 92472139 [A/C] NM_001145065 CCSER1 Silent indel.82049 4 92519943 [D/I] NM_001145065 CCSER1 EXON exm414003 4 92519972 [A/G] NM_001145065 CCSER1 EXON Missense_A823T rs10008605 4 92544156 [A/G] exm2269799 4 92544404 [T/C] rs11947273 4 92544404 [T/C] rs11946091 4 92566775 [A/G] rs4508848 4 92615579 [A/C] rs11731487 4 92634711 [A/G] rs6532345 4 92651110 [A/G] rs13141601 4 92661382 [T/C] rs4348059 4 92662425 [A/G] rs4314258 4 92668180 [A/G] rs17221444 4 92672743 [A/C] rs4455379 4 92673841 [A/G] rs6811317 4 92684140 [A/G] rs13106681 4 92685286 [T/C] rs13114360 4 92688140 [A/G] rs9307104 4 92688358 [A/G] rs11097328 4 92691639 [T/C] exm2261779 4 92696668 [T/C] rs1564958 4 92706551 [A/C] rs1485991 4 92734290 [T/C] rs1485989 4 92758836 [T/C] rs1485988 4 92761582 [A/G] kgp12503359 4 92762197 [A/G] rs1564957 4 92838346 [A/G] rs321723 4 92845437 [A/G] rs1844346 4 92867432 [T/C] rs17291988 4 92873306 [T/C] rs6532349 4 92889426 [T/C] rs966867 4 92906792 [A/G] rs28826883 4 92955364 [T/C] rs11934637 4 92981939 [T/G] rs10032505 4 93009187 [A/G] rs730293 4 93016862 [T/C] rs6532359 4 93044488 [T/G] rs17019139 4 93064187 [A/C] rs1585428 4 93088664 [A/G] rs7683443 4 93136397 [T/C] rs2199291 4 93136797 [T/G] exm2269800 4 93136797 [T/G] rs1913301 4 93184838 [A/C] rs8180202 4 93198845 [A/G] exm414012 4 93225869 [T/C] NM_001510 GRID2 EXON Missense_A21V exm414014 4 93225894 [T/C] NM_001510 GRID2 EXON Synonymous_I29I rs992995 4 93236404 [A/G] NM_001510 GRID2 Silent rs10009241 4 93264193 [A/G] NM_001510 GRID2 Silent rs7685835 4 93288641 [A/G] NM_001510 GRID2 Silent exm-rs2089990 4 93300188 [A/C] NM_001510 GRID2 Silent rs2089990 4 93300188 [A/C] NM_001510 GRID2 Silent rs1513460 4 93309526 [A/G] NM_001510 GRID2 Silent rs6844474 4 93354048 [A/G] NM_001510 GRID2 Silent rs7668752 4 93368860 [A/G] NM_001510 GRID2 Silent rs4629410 4 93372969 [A/G] NM_001510 GRID2 Silent rs12643954 4 93398759 [T/C] NM_001510 GRID2 Silent rs7659159 4 93428335 [T/C] NM_001510 GRID2 Silent rs7659338 4 93428415 [T/C] NM_001510 GRID2 Silent rs7661958 4 93455880 [A/G] NM_001510 GRID2 Silent rs17019538 4 93467552 [A/C] NM_001510 GRID2 Silent exm2265854 4 93479275 [A/G] NM_001510 GRID2 Silent rs7663643 4 93480717 [T/C] NM_001510 GRID2 Silent rs9685970 4 93504230 [T/C] NM_001510 GRID2 Silent rs9307120 4 93508896 [T/C] NM_001510 GRID2 Silent exm414017 4 93511396 [T/C] NM_001510 GRID2 EXON Missense_T68M variant.82051 4 93511442 [A/G] NM_001510 GRID2 Silent rs7668740 4 93539532 [T/C] NM_001510 GRID2 Silent rs921355 4 93553252 [A/G] NM_001510 GRID2 Silent rs12648061 4 93579550 [A/G] NM_001510 GRID2 Silent rs9994093 4 93602855 [T/C] NM_001510 GRID2 Silent rs2061889 4 93621793 [A/G] NM_001510 GRID2 Silent rs17019814 4 93638479 [A/G] NM_001510 GRID2 Silent rs10032050 4 93641094 [A/G] NM_001510 GRID2 Silent rs1369166 4 93659471 [T/C] NM_001510 GRID2 Silent rs954467 4 93665778 [T/C] NM_001510 GRID2 Silent exm2264059 4 93697153 [A/C] NM_001510 GRID2 Silent rs28409430 4 93710269 [A/G] NM_001510 GRID2 Silent rs10856898 4 93723466 [A/G] NM_001510 GRID2 Silent kgp11484572 4 93736732 [A/G] NM_001510 GRID2 Silent rs1369169 4 93740409 [T/G] NM_001510 GRID2 Silent rs6532382 4 93786775 [A/G] NM_001510 GRID2 Silent rs1456362 4 93833561 [T/C] NM_001510 GRID2 Silent rs7667251 4 93875521 [A/G] NM_001510 GRID2 Silent rs1039938 4 93918343 [T/C] NM_001510 GRID2 Silent kgp10435073 4 93918873 [T/C] NM_001510 GRID2 Silent kgp8842867 4 93925822 [T/C] NM_001510 GRID2 Silent rs13126969 4 93987251 [A/G] NM_001510 GRID2 Silent rs1912718 4 93989892 [A/C] NM_001510 GRID2 Silent rs10032153 4 93993208 [T/C] NM_001510 GRID2 Silent rs1511294 4 93994938 [A/C] NM_001510 GRID2 Silent exm2256791 4 93998463 [A/G] NM_001510 GRID2 Silent rs4502650 4 94011311 [A/G] NM_001510 GRID2 Silent exm414039 4 94031946 [A/G] NM_001510 GRID2 EXON Missense_M193V exm2241456 4 94031983 [A/G] NM_001510 GRID2 EXON Missense_N205S rs3843409 4 94034683 [T/C] NM_001510 GRID2 Silent rs6849575 4 94037375 [T/G] NM_001510 GRID2 Silent rs11931441 4 94049823 [A/G] NM_001510 GRID2 Silent rs17264265 4 94052135 [A/G] NM_001510 GRID2 Silent rs11097358 4 94064059 [A/G] NM_001510 GRID2 Silent rs1354296 4 94075263 [A/G] NM_001510 GRID2 Silent rs6821061 4 94100410 [T/C] NM_001510 GRID2 Silent rs1503223 4 94115801 [A/G] NM_001510 GRID2 Silent rs6857551 4 94117721 [T/G] NM_001510 GRID2 Silent rs7667127 4 94123529 [T/C] NM_001510 GRID2 Silent rs12507496 4 94125424 [A/G] NM_001510 GRID2 Silent rs3796675 4 94146093 [A/G] NM_001510 GRID2 Silent rs17020286 4 94159658 [T/C] NM_001510 GRID2 Silent exm2269944 4 94159851 [T/G] NM_001510 GRID2 Silent rs1433654 4 94162560 [A/C] NM_001510 GRID2 Silent rs1821342 4 94172097 [A/G] NM_001510 GRID2 Silent rs1368727 4 94209719 [T/G] NM_001510 GRID2 Silent rs17020351 4 94219314 [T/C] NM_001510 GRID2 Silent rs6813949 4 94227970 [T/C] NM_001510 GRID2 Silent rs6854968 4 94233967 [T/C] NM_001510 GRID2 Silent rs1433676 4 94239926 [T/C] NM_001510 GRID2 Silent rs733942 4 94251270 [A/G] NM_001510 GRID2 Silent rs7696884 4 94255091 [T/G] NM_001510 GRID2 Silent rs919866 4 94258848 [T/C] NM_001510 GRID2 Silent rs6834311 4 94290979 [A/G] NM_001510 GRID2 Silent rs1368716 4 94294991 [T/C] NM_001510 GRID2 Silent rs11737556 4 94300038 [T/C] NM_001510 GRID2 Silent rs1994253 4 94314479 [T/C] NM_001510 GRID2 Silent variant.82052 4 94316859 [A/G] NM_001510 GRID2 EXON Synonymous_L449L rs7662289 4 94329254 [T/C] NM_001510 GRID2 Silent exm414073 4 94344042 [A/G] NM_001510 GRID2 EXON Missense_V490I exm414074 4 94344046 [T/C] NM_001510 GRID2 EXON Missense_A491V rs17020586 4 94344254 [A/G] NM_001510 GRID2 Silent rs10006372 4 94359448 [T/G] NM_001510 GRID2 Silent exm414084 4 94377042 [T/C] NM_001510 GRID2 EXON Missense_P592L rs17020631 4 94380515 [A/G] NM_001510 GRID2 Silent rs1905724 4 94382396 [A/C] NM_001510 GRID2 Silent rs2200375 4 94390998 [T/C] NM_001510 GRID2 Silent rs11097368 4 94402365 [T/C] NM_001510 GRID2 Silent exm414088 4 94411877 [T/C] NM_001510 GRID2 EXON Missense_T649M exm2082303 4 94411912 [T/A] NM_001510 GRID2 EXON Missense_I661F rs7676645 4 94413681 [T/C] NM_001510 GRID2 Silent rs6851153 4 94426942 [T/C] NM_001510 GRID2 Silent rs4557232 4 94430437 [A/G] NM_001510 GRID2 Silent rs13144042 4 94430964 [A/G] NM_001510 GRID2 Silent indel.82053 4 94436463 [I/D] NM_001510 GRID2 EXON rs1435473 4 94458391 [T/C] NM_001510 GRID2 Silent rs6836589 4 94461705 [A/G] NM_001510 GRID2 Silent rs11942069 4 94494455 [A/G] NM_001510 GRID2 Silent rs13117931 4 94518801 [T/C] NM_001510 GRID2 Silent rs12503522 4 94543233 [T/C] NM_001510 GRID2 Silent rs11728147 4 94543882 [A/C] NM_001510 GRID2 Silent exm414101 4 94547444 [A/G] NM_001510 GRID2 EXON Missense_V740I rs10516928 4 94552306 [T/G] NM_001510 GRID2 Silent rs6856229 4 94566830 [T/C] NM_001510 GRID2 Silent rs9993464 4 94569114 [A/G] NM_001510 GRID2 Silent rs10516933 4 94570408 [A/G] NM_001510 GRID2 Silent rs10516937 4 94572751 [T/C] NM_001510 GRID2 Silent rs6848888 4 94572864 [T/C] NM_001510 GRID2 Silent rs10516940 4 94594199 [T/C] NM_001510 GRID2 Silent rs2859980 4 94594845 [T/C] NM_001510 GRID2 Silent rs4692987 4 94616814 [A/G] NM_001510 GRID2 Silent rs7659517 4 94629367 [A/G] NM_001510 GRID2 Silent rs6850113 4 94634302 [T/C] NM_001510 GRID2 Silent rs2099701 4 94651669 [A/G] NM_001510 GRID2 Silent exm414114 4 94690587 [A/G] NM_001510 GRID2 EXON Missense_V863I rs10084947 4 94702001 [A/G] rs17021105 4 94702064 [T/C] rs4693340 4 94704547 [A/G] exm2269801 4 94727622 [T/C] rs726899 4 94727622 [T/C] rs10024195 4 94729848 [T/C] rs17021163 4 94730209 [A/G] rs993775 4 94731641 [T/G] rs9307131 4 94736376 [T/C] rs10022714 4 94741522 [A/C] exm414139 4 94750491 [C/G] NM_005172 ATOH1 EXON Missense_D138E exm414150 4 94750751 [C/G] NM_005172 ATOH1 EXON Missense_P225R exm414154 4 94750788 [A/C] NM_005172 ATOH1 EXON Missense_H237Q exm414163 4 94750948 [A/G] NM_005172 ATOH1 EXON Missense_A291T exm2256793 4 94751070 [T/G] NM_005172 ATOH1 EXON Synonymous_S331S exm414170 4 94751070 [T/G] NM_005172 ATOH1 EXON Synonymous_S331S exm2265855 4 94761551 [A/G] rs7693338 4 94766621 [T/C] rs12643691 4 94778298 [T/C] rs4693349 4 94793323 [T/G] rs7674525 4 94804559 [T/C] rs7698518 4 94807875 [T/C] rs7692683 4 94816144 [A/G] rs2578165 4 94830314 [T/C] rs1898638 4 94839483 [T/C] rs9884362 4 94842968 [T/C] rs1595502 4 94854453 [T/C] rs1583661 4 94862267 [A/C] rs2618766 4 94877244 [A/G] rs2578125 4 94881319 [T/C] rs13130787 4 94887031 [T/C] rs1370823 4 94901470 [T/C] rs17365288 4 94904738 [A/G] kgp2425531 4 94905607 [A/G] rs9685344 4 94954308 [A/G] rs13121813 4 94959526 [A/C] rs12641765 4 94962497 [T/C] rs2048299 4 94993624 [T/C] rs1509951 4 94995494 [A/G] rs1841925 4 95035175 [A/G] rs17021364 4 95047893 [T/C] rs9992640 4 95058293 [A/G] rs4693373 4 95081378 [A/G] rs4693374 4 95086164 [A/C] rs7676797 4 95099194 [A/G] exm414175 4 95129699 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_A52T,Missense_A52T,Missense_A52T,Silent exm-rs11097407 4 95146135 [G/C] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 Silent,Silent,Silent,Silent exm414178 4 95147383 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_V102I,Missense_V102I,Missense_V102I,Silent exm414179 4 95147402 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_N108S,Missense_N108S,Missense_N108S,Silent exm414180 4 95155148 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_M138V,Missense_M138V,Missense_M138V,Silent rs17309887 4 95155505 [T/C] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 Silent,Silent,Silent,Silent exm414190 4 95170839 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_S247N,Missense_S247N,Missense_S247N,Silent exm414195 4 95173779 [T/C] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_V301A,Missense_V301A,Missense_V301A,Silent exm414200 4 95173908 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_R344H,Missense_R344H,Missense_R344H,Silent exm414201 4 95173928 [T/C] NM_001128430,NM_020159,NM_001128429,NR_045644 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_P351S,Missense_P351S,Missense_P351S,Silent rs10029551 4 95185854 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644,NM_001254949 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 Silent,Silent,Silent,Silent,Silent rs2306802 4 95186055 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644,NM_001254949 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Synonymous_Q493Q,Synonymous_Q493Q,Synonymous_Q493Q,Silent,Synonymous_Q63Q exm414224 4 95197608 [T/C] NM_001128430,NM_020159,NM_001128429,NR_045644,NM_001254949 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_H643Y,Missense_H643Y,Missense_H643Y,Silent,Missense_H213Y exm414225 4 95197625 [T/C] NM_001128430,NM_020159,NM_001128429,NR_045644,NM_001254949 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Synonymous_N648N,Synonymous_N648N,Synonymous_N648N,Silent,Synonymous_N218N exm414230 4 95199785 [G/C] NM_001128430,NM_020159,NM_001128429,NR_045644,NM_001254949 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_P733A,Missense_P733A,Missense_P733A,Silent,Missense_P303A exm414233 4 95199855 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644,NM_001254949 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_N756S,Missense_N756S,Missense_N756S,Silent,Missense_N326S exm414240 4 95201837 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644,NM_001254949 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_R840Q,Missense_R838Q,Missense_R840Q,Silent,Missense_R408Q exm414242 4 95201863 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644,NM_001254949 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_M849V,Missense_M847V,Missense_M849V,Silent,Missense_M417V exm414250 4 95204450 [A/G] NM_001128430,NM_020159,NM_001128429,NR_045644,NM_001254949 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Missense_T971A,Missense_T969A,Missense_T971A,Silent,Missense_T539A rs8336 4 95211610 [T/C] NM_001128430,NM_020159,NM_001128429,NR_045644,NM_001254949 SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1,SMARCAD1 EXON Silent,Silent,Silent,Silent,Silent variant.82056 4 95220654 [A/G] NM_014485 HPGDS EXON Nonsense_R193X exm414259 4 95220672 [T/C] NM_014485 HPGDS EXON Missense_V187I exm2274037 4 95220699 [A/G] NM_014485 HPGDS EXON Missense_R178W exm414267 4 95220779 [A/G] NM_014485 HPGDS EXON Missense_F151S exm414271 4 95223325 [G/C] NM_014485 HPGDS EXON Missense_G136A exm414272 4 95223349 [A/G] NM_014485 HPGDS EXON Missense_M128T exm414273 4 95223358 [C/G] NM_014485 HPGDS EXON Missense_P125R exm414278 4 95229787 [T/C] NM_014485 HPGDS EXON Missense_K112E exm414279 4 95229793 [T/C] NM_014485 HPGDS EXON Missense_D110N exm414285 4 95229850 [T/C] NM_014485 HPGDS EXON Missense_I91V var_4_95239023 4 95239023 [T/C] NM_014485 HPGDS Silent rs10033662 4 95239462 [A/G] NM_014485 HPGDS Silent rs2289186 4 95255637 [T/G] NM_014485 HPGDS Silent variant.82060 4 95255699 [A/G] NM_014485 HPGDS EXON Nonsense_Q28X rs1991316 4 95268272 [T/G] rs6847989 4 95277099 [A/C] rs6532481 4 95277311 [T/G] exm2269802 4 95290250 [T/C] rs12108275 4 95298847 [T/G] rs17311887 4 95313228 [T/C] rs7685534 4 95328925 [A/C] rs7664215 4 95329157 [T/G] rs13435066 4 95339333 [A/G] rs4359908 4 95340174 [T/C] rs7697295 4 95360346 [T/C] rs2433320 4 95370805 [A/G] exm414298 4 95376504 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256429,NR_046186,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_K22R,Missense_K22R,Silent,Missense_K22R,Missense_K22R,Silent,Missense_K22R,Missense_K22R,Silent,Missense_K22R rs6843496 4 95389193 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2510802 4 95410168 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2452563 4 95424226 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2433317 4 95428800 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs902980 4 95429441 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2639795 4 95439154 [A/C] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2265856 4 95444255 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm414304 4 95444963 [A/C] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_T62N,Missense_T62N,Silent,Missense_T62N,Missense_T62N,Silent,Missense_T62N,Missense_T62N rs3805288 4 95450770 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10213504 4 95468433 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2510772 4 95470815 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1493112 4 95472630 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm414311 4 95494528 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_P92L,Missense_P92L,Silent,Missense_P92L,Missense_P92L,Silent,Missense_P92L,Missense_P92L newrs111676493 4 95494566 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm414316 4 95496882 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_S136F,Silent,Silent,Silent,Silent,Missense_S14F,Silent,Silent rs2452600 4 95496882 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_S136F,Silent,Silent,Silent,Silent,Missense_S14F,Silent,Silent exm414320 4 95496927 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_T151I,Silent,Silent,Silent,Silent,Missense_T29I,Silent,Silent rs12639887 4 95505975 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm414338 4 95506741 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001011515,NM_001256426,NM_001256428,NM_001011516,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_R246C,Missense_R137C,Silent,Missense_R143C,Missense_R143C,Missense_R124C,Missense_R123C,Missense_R143C exm-rs12500426 4 95514609 [A/C] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent rs12639623 4 95525186 [T/G] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent exm414360 4 95539204 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_R324W,Missense_R215W,Silent,Missense_R353W,Missense_R202W,Missense_R221W exm414362 4 95539267 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_A345T,Missense_A236T,Missense_A20T,Missense_A374T,Missense_A223T,Missense_A242T rs4699312 4 95544162 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent rs11732687 4 95555833 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent rs17021917 4 95561279 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent exm414369 4 95561459 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_T381A,Missense_T272A,Missense_T56A,Missense_T410A,Missense_T259A,Missense_T278A exm414370 4 95561480 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_P388S,Missense_P279S,Missense_P63S,Missense_P417S,Missense_P266S,Missense_P285S exm-rs17021918 4 95562877 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent rs1509620 4 95563972 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent variant.82064 4 95575651 [T/G] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Nonsense_E442X,Nonsense_E333X,Nonsense_E117X,Nonsense_E471X,Nonsense_E320X,Nonsense_E339X exm414382 4 95575661 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_N445S,Missense_N336S,Missense_N120S,Missense_N474S,Missense_N323S,Missense_N342S rs13121500 4 95577290 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 Silent,Silent,Silent,Silent,Silent,Silent exm414389 4 95578584 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_I491V,Missense_I382V,Missense_I166V,Missense_I520V,Missense_I369V,Missense_I388V exm414390 4 95578588 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_S492N,Missense_S383N,Missense_S167N,Missense_S521N,Missense_S370N,Missense_S389N exm414391 4 95578650 [T/C] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_R513W,Missense_R404W,Missense_R188W,Missense_R542W,Missense_R391W,Missense_R410W exm414397 4 95583657 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_Y557C,Missense_Y448C,Missense_Y232C,Missense_Y586C,Missense_Y435C,Missense_Y454C exm414398 4 95585154 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_Q576R,Missense_Q467R,Missense_Q251R,Missense_Q605R,Missense_Q454R,Missense_Q473R exm414402 4 95585202 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Missense_H592R,Missense_H483R,Missense_H267R,Missense_H621R,Missense_H470R,Silent rs14082 4 95586224 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Silent,Silent,Silent,Silent,Silent,Silent rs7285 4 95589337 [A/G] NM_006457,NM_001011513,NM_001256425,NM_001256426,NM_001256428,NM_001256427 PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5,PDLIM5 EXON Silent,Silent,Silent,Silent,Silent,Silent rs11944465 4 95594421 [A/C] rs7680214 4 95612497 [A/G] rs17022027 4 95614278 [T/C] rs6850621 4 95620254 [T/C] rs11931151 4 95622305 [T/G] rs6812065 4 95626444 [A/G] rs6846079 4 95631307 [A/C] exm2265733 4 95644727 [A/G] rs7663879 4 95649261 [T/C] rs4348103 4 95678443 [T/G] rs11733843 4 95703047 [T/G] NM_001203 BMPR1B Silent rs12501965 4 95706285 [T/C] NM_001203 BMPR1B Silent rs4599420 4 95708561 [A/G] NM_001203 BMPR1B Silent rs7677261 4 95718070 [A/G] NM_001203 BMPR1B Silent rs4456963 4 95724988 [A/G] NM_001203 BMPR1B Silent rs7692640 4 95738226 [A/C] NM_001203 BMPR1B Silent rs17022328 4 95748634 [A/G] NM_001203 BMPR1B Silent rs6853333 4 95750415 [A/G] NM_001203 BMPR1B Silent rs13127472 4 95769791 [A/G] NM_001203 BMPR1B Silent rs1544392 4 95775101 [A/G] NM_001203 BMPR1B Silent rs4254781 4 95775606 [T/C] NM_001203 BMPR1B Silent rs2719175 4 95794060 [T/C] NM_001203 BMPR1B Silent rs1011961 4 95810540 [A/G] NM_001203 BMPR1B Silent rs13116658 4 95811997 [T/C] NM_001203 BMPR1B Silent rs17022528 4 95831407 [T/C] NM_001203 BMPR1B Silent exm-rs1859156 4 95834034 [T/G] NM_001203 BMPR1B Silent rs7669822 4 95841960 [T/C] NM_001203 BMPR1B Silent rs1444930 4 95845911 [T/C] NM_001203 BMPR1B Silent rs10021303 4 95856681 [A/G] NM_001203 BMPR1B Silent rs3796413 4 95867338 [T/C] NM_001203 BMPR1B Silent rs1444928 4 95876278 [T/C] NM_001203 BMPR1B Silent rs1444927 4 95876313 [A/G] NM_001203 BMPR1B Silent rs6842938 4 95892128 [A/C] NM_001203 BMPR1B Silent rs1545326 4 95914424 [A/C] NM_001203 BMPR1B Silent rs7662504 4 95928570 [A/C] NM_001203,NM_001256792 BMPR1B,BMPR1B Silent,Silent rs12500473 4 95933337 [A/G] NM_001203,NM_001256792 BMPR1B,BMPR1B Silent,Silent rs17022885 4 95948640 [T/C] NM_001203,NM_001256792 BMPR1B,BMPR1B Silent,Silent rs10516957 4 95949206 [T/C] NM_001203,NM_001256792 BMPR1B,BMPR1B Silent,Silent rs13103406 4 95961926 [T/C] NM_001203,NM_001256792 BMPR1B,BMPR1B Silent,Silent rs1434545 4 95969759 [A/G] NM_001203,NM_001256792 BMPR1B,BMPR1B Silent,Silent rs2114534 4 95984379 [T/G] NM_001203,NM_001256792,NM_001256793 BMPR1B,BMPR1B,BMPR1B Silent,Silent,Silent rs1863652 4 95991417 [A/G] NM_001203,NM_001256792,NM_001256793 BMPR1B,BMPR1B,BMPR1B Silent,Silent,Silent rs6816834 4 96011233 [A/G] NM_001203,NM_001256792,NM_001256793 BMPR1B,BMPR1B,BMPR1B Silent,Silent,Silent exm414404 4 96025586 [A/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_R4Q,Missense_R4Q,Missense_R34Q,Missense_R4Q exm414406 4 96025591 [A/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_A6T,Missense_A6T,Missense_A36T,Missense_A6T exm414409 4 96025649 [G/C] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_P25R,Missense_P25R,Missense_P55R,Missense_P25R exm414412 4 96035956 [T/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_S77A,Missense_S77A,Missense_S107A,Missense_S77A exm414424 4 96045029 [A/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_V140I,Missense_V140I,Missense_V170I,Missense_V140I exm414430 4 96046210 [T/C] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_S175P,Missense_S175P,Missense_S205P,Missense_S175P rs6826261 4 96047368 [A/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B Silent,Silent,Silent,Silent indel.82066 4 96051023 [I/D] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON exm414436 4 96051098 [A/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_R224H,Missense_R224H,Missense_R254H,Missense_R224H exm2241467 4 96051106 [A/C] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_K227Q,Missense_K227Q,Missense_K257Q,Missense_K227Q exm414441 4 96051172 [C/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_Q249E,Missense_Q249E,Missense_Q279E,Missense_Q249E exm414443 4 96051196 [A/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_N257D,Missense_N257D,Missense_N287D,Missense_N257D exm414447 4 96052488 [A/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_M301V,Missense_M301V,Missense_M331V,Missense_M301V exm414450 4 96052566 [A/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_A327T,Missense_A327T,Missense_A357T,Missense_A327T rs3755876 4 96062784 [T/C] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B Silent,Silent,Silent,Silent rs1434538 4 96066672 [T/C] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B Silent,Silent,Silent,Silent exm414458 4 96069934 [A/G] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Missense_R371Q,Missense_R371Q,Missense_R401Q,Missense_R371Q exm2273396 4 96075965 [T/C] NM_001203,NM_001256792,NM_001256793,NM_001256794 BMPR1B,BMPR1B,BMPR1B,BMPR1B EXON Silent,Silent,Silent,Silent rs1813074 4 96087973 [T/G] NM_003728 UNC5C EXON Silent indel.82067 4 96090441 [D/I] NM_003728 UNC5C EXON exm414485 4 96091324 [A/G] NM_003728 UNC5C EXON Missense_H871Y exm414489 4 96091414 [T/C] NM_003728 UNC5C EXON Missense_A841T exm414493 4 96091431 [A/G] NM_003728 UNC5C EXON Missense_T835M exm414494 4 96091434 [A/G] NM_003728 UNC5C EXON Missense_T834I exm2256801 4 96104051 [T/C] NM_003728 UNC5C EXON Synonymous_S816S exm414507 4 96106244 [T/C] NM_003728 UNC5C EXON Missense_D747G exm414508 4 96106245 [T/C] NM_003728 UNC5C EXON Missense_D747N exm414509 4 96106259 [T/C] NM_003728 UNC5C EXON Missense_R742H exm414510 4 96106321 [T/C] NM_003728 UNC5C EXON Missense_M721I exm414511 4 96106322 [A/G] NM_003728 UNC5C EXON Missense_M721T rs3755881 4 96107878 [A/G] NM_003728 UNC5C Silent rs3796462 4 96108829 [T/C] NM_003728 UNC5C Silent rs3796459 4 96116778 [T/G] NM_003728 UNC5C Silent exm414513 4 96123953 [G/C] NM_003728 UNC5C EXON Missense_P689A exm414519 4 96124016 [T/C] NM_003728 UNC5C EXON Missense_A668T rs3775050 4 96126231 [A/G] NM_003728 UNC5C Silent rs3775045 4 96126884 [T/C] NM_003728 UNC5C Silent exm414532 4 96127798 [T/G] NM_003728 UNC5C EXON Missense_A628E exm414533 4 96127799 [T/C] NM_003728 UNC5C EXON Missense_A628T rs2571038 4 96135553 [T/C] NM_003728 UNC5C Silent exm414548 4 96140171 [T/C] NM_003728 UNC5C EXON Missense_A532T exm414554 4 96140365 [T/C] NM_003728 UNC5C EXON Missense_N467S rs2865384 4 96145120 [A/G] NM_003728 UNC5C Silent exm-rs12643654 4 96159817 [A/G] NM_003728 UNC5C Silent rs7434638 4 96161342 [T/C] NM_003728 UNC5C Silent exm414569 4 96163629 [T/G] NM_003728 UNC5C EXON Missense_D353E exm414570 4 96163631 [T/C] NM_003728 UNC5C EXON Missense_D353N rs12642020 4 96165142 [A/G] NM_003728 UNC5C Silent exm414574 4 96166139 [A/G] NM_003728 UNC5C EXON Missense_T311M exm414576 4 96166223 [T/C] NM_003728 UNC5C EXON Missense_R283H exm414580 4 96171659 [T/G] NM_003728 UNC5C EXON Missense_T252P rs6847919 4 96189813 [T/C] NM_003728 UNC5C Silent rs10010112 4 96200216 [T/C] NM_003728 UNC5C Silent rs2865421 4 96201243 [A/G] NM_003728 UNC5C Silent rs11097465 4 96204556 [T/C] NM_003728 UNC5C Silent rs17023485 4 96235787 [A/G] NM_003728 UNC5C Silent rs17023534 4 96246506 [T/C] NM_003728 UNC5C Silent rs2621462 4 96247498 [T/C] NM_003728 UNC5C Silent rs2626053 4 96255088 [A/G] NM_003728 UNC5C Silent rs10516965 4 96255814 [T/C] NM_003728 UNC5C Silent variant.82070 4 96256561 [T/C] NM_003728 UNC5C EXON Missense_G116S exm414599 4 96256562 [A/G] NM_003728 UNC5C EXON Synonymous_S115S exm2256802 4 96256571 [A/G] NM_003728 UNC5C EXON Synonymous_D112D exm414601 4 96256588 [G/C] NM_003728 UNC5C EXON Missense_V107L variant.82071 4 96256603 [A/G] NM_003728 UNC5C EXON Nonsense_Q102X rs4130507 4 96259062 [T/G] NM_003728 UNC5C Silent rs1552225 4 96260842 [T/C] NM_003728 UNC5C Silent rs2626055 4 96262520 [A/G] NM_003728 UNC5C Silent rs2621458 4 96294936 [T/C] NM_003728 UNC5C Silent rs12644448 4 96299591 [T/G] NM_003728 UNC5C Silent rs4353913 4 96303313 [T/C] NM_003728 UNC5C Silent rs9998018 4 96306407 [T/C] NM_003728 UNC5C Silent rs6532555 4 96307840 [T/C] NM_003728 UNC5C Silent rs10516969 4 96310163 [A/G] NM_003728 UNC5C Silent rs7691901 4 96330417 [T/G] NM_003728 UNC5C Silent rs9307158 4 96330516 [A/G] NM_003728 UNC5C Silent rs9307159 4 96341886 [T/C] NM_003728 UNC5C Silent rs3846457 4 96360642 [T/C] NM_003728 UNC5C Silent rs265052 4 96372611 [T/C] NM_003728 UNC5C Silent exm2256803 4 96379903 [T/C] NM_003728 UNC5C Silent rs265033 4 96382027 [T/G] NM_003728 UNC5C Silent rs3846452 4 96383256 [A/G] NM_003728 UNC5C Silent rs265030 4 96385457 [T/G] NM_003728 UNC5C Silent rs10856917 4 96390834 [T/C] NM_003728 UNC5C Silent rs4505826 4 96406950 [A/G] NM_003728 UNC5C Silent rs6834411 4 96407772 [A/G] NM_003728 UNC5C Silent rs2629833 4 96409200 [T/C] NM_003728 UNC5C Silent rs6532561 4 96416472 [T/C] NM_003728 UNC5C Silent rs10003330 4 96424923 [A/G] NM_003728 UNC5C Silent rs13107936 4 96427086 [A/G] NM_003728 UNC5C Silent rs7699716 4 96428992 [A/G] NM_003728 UNC5C Silent rs1905850 4 96434992 [T/C] NM_003728 UNC5C Silent rs17386118 4 96456602 [A/G] NM_003728 UNC5C Silent rs10032931 4 96458433 [T/C] NM_003728 UNC5C Silent rs970689 4 96460537 [A/G] NM_003728 UNC5C Silent rs9307161 4 96484360 [A/C] rs6818365 4 96485224 [A/G] rs1385674 4 96494451 [T/C] rs7665819 4 96510283 [T/C] rs11097474 4 96521263 [A/G] rs17387847 4 96522796 [T/G] rs12499437 4 96527801 [T/C] rs264305 4 96531822 [A/G] exm2265734 4 96532925 [A/G] rs977737 4 96546107 [T/C] rs987382 4 96547093 [T/C] rs1436591 4 96557708 [A/C] rs992852 4 96560136 [A/G] rs12644144 4 96562035 [A/G] rs10016927 4 96565112 [T/G] rs11727175 4 96567263 [T/C] exm2265857 4 96597286 [A/G] rs13112339 4 96610670 [T/C] rs11097480 4 96614904 [A/G] rs1865848 4 96625942 [A/G] rs1579627 4 96636651 [A/G] rs1985147 4 96642580 [T/C] rs7692486 4 96658407 [A/C] rs13147380 4 96681253 [A/C] rs6851495 4 96688897 [T/C] rs4699458 4 96691621 [T/C] rs7669620 4 96704454 [A/G] rs1436561 4 96712286 [A/C] rs11097485 4 96725043 [T/G] rs5012929 4 96728284 [A/G] rs17024592 4 96730586 [A/G] rs11939292 4 96734419 [T/C] rs1436554 4 96736162 [T/C] rs6819078 4 96743973 [A/G] rs1836899 4 96747103 [A/G] rs1076860 4 96760945 [T/C] rs10516983 4 96761233 [A/G] exm414621 4 96761323 [T/C] NM_005390 PDHA2 EXON Missense_R8C exm414622 4 96761324 [A/G] NM_005390 PDHA2 EXON Missense_R8H exm414625 4 96761363 [A/T] NM_005390 PDHA2 EXON Missense_V21E exm414631 4 96761533 [T/C] NM_005390 PDHA2 EXON Nonsense_Q78X newrs142996162 4 96761533 [T/C] NM_005390 PDHA2 EXON Nonsense_Q78X exm414632 4 96761547 [T/G] NM_005390 PDHA2 EXON Missense_Q82H exm414634 4 96761602 [C/G] NM_005390 PDHA2 EXON Missense_G101R variant.82075 4 96761763 [T/G] NM_005390 PDHA2 EXON Nonsense_Y154X exm414642 4 96761777 [A/G] NM_005390 PDHA2 EXON Missense_Y159C exm414650 4 96761881 [T/G] NM_005390 PDHA2 EXON Missense_D194Y indel.82077 4 96762004 [D/I] NM_005390 PDHA2 EXON exm2082667 4 96762012 [C/G] NM_005390 PDHA2 EXON Missense_S237R exm414664 4 96762126 [C/G] NM_005390 PDHA2 EXON Missense_K275N exm414666 4 96762158 [G/C] NM_005390 PDHA2 EXON Missense_R286P exm414667 4 96762167 [G/C] NM_005390 PDHA2 EXON Missense_G289A variant.82081 4 96762295 [T/G] NM_005390 PDHA2 EXON Nonsense_E332X exm414680 4 96762370 [T/C] NM_005390 PDHA2 EXON Missense_P357S exm414683 4 96762427 [C/G] NM_005390 PDHA2 EXON Missense_R376G exm2256804 4 96762459 [T/C] NM_005390 PDHA2 EXON Synonymous_S386S rs7684431 4 96765029 [A/G] rs2054159 4 96783302 [T/C] rs10007534 4 96798214 [A/G] rs13131407 4 96814281 [A/G] rs6848902 4 96816411 [T/C] rs10516985 4 96830011 [A/G] rs6532589 4 96875436 [A/G] rs17024928 4 96877723 [T/G] rs17024939 4 96880695 [A/C] rs6823094 4 96897523 [T/C] rs6855600 4 96918295 [A/G] rs1514974 4 96923483 [A/G] rs6824429 4 96925910 [A/G] rs17425319 4 96939471 [A/C] rs3737480 4 96952180 [A/C] rs1514976 4 96965849 [T/C] rs7695763 4 96977876 [T/C] rs10026084 4 96979391 [A/G] rs6825966 4 97008338 [A/G] rs6851001 4 97024525 [A/G] rs6814006 4 97037142 [T/G] rs17025081 4 97038335 [A/C] rs6819348 4 97075010 [A/G] rs1840042 4 97083012 [A/G] rs6818950 4 97104881 [T/C] rs7692294 4 97125086 [A/G] rs11943079 4 97132023 [A/G] kgp8867713 4 97132427 [A/G] rs4699496 4 97185259 [T/G] exm2265735 4 97215545 [A/G] rs7682601 4 97216464 [T/C] rs4146411 4 97266060 [A/G] rs11097505 4 97278349 [A/G] rs4699509 4 97308914 [T/C] rs10516995 4 97356378 [T/C] rs1533454 4 97358099 [A/G] kgp4428695 4 97364513 [T/C] rs7693049 4 97419088 [T/G] rs1607062 4 97430897 [T/C] rs4699523 4 97435210 [A/G] rs2090376 4 97438464 [A/C] rs1516662 4 97460916 [A/G] rs17025630 4 97472001 [A/C] rs13124250 4 97475233 [T/G] rs10033523 4 97476439 [A/G] rs954241 4 97490815 [T/C] rs17514862 4 97503973 [A/G] rs4699293 4 97511566 [T/C] rs7674376 4 97523338 [A/G] rs6838767 4 97524510 [A/G] rs13151319 4 97529769 [A/G] rs10006399 4 97552346 [A/G] rs7679806 4 97560105 [A/G] rs7685841 4 97560757 [A/C] rs6855625 4 97567998 [A/C] rs7686119 4 97591085 [A/G] rs4476677 4 97593469 [A/C] rs10024940 4 97621871 [A/G] rs10004820 4 97627858 [T/C] rs10856922 4 97637435 [A/G] exm2269945 4 97644876 [T/C] rs1950166 4 97653130 [A/G] rs17025844 4 97656445 [A/G] rs17456988 4 97662454 [T/G] rs10516415 4 97689917 [A/G] rs12509878 4 97695401 [T/G] rs4579126 4 97737582 [T/C] rs6532654 4 97776070 [A/G] rs9997488 4 97776909 [T/G] rs11936397 4 97779789 [T/C] rs929290 4 97799998 [A/G] rs12651219 4 97805511 [A/G] rs9994928 4 97807484 [A/C] exm2256807 4 97828056 [T/C] rs10488826 4 97853451 [T/C] rs6825085 4 97874682 [T/C] rs7694207 4 97880409 [T/C] rs6830362 4 97889973 [T/C] rs981391 4 97891970 [T/C] rs7659471 4 97915370 [T/C] rs733323 4 97918476 [T/C] rs4141303 4 97935617 [A/G] rs4141304 4 97935662 [A/G] rs17026302 4 97949728 [T/C] rs2865775 4 97963926 [A/G] rs7695114 4 97968711 [T/C] rs13109193 4 97974722 [T/C] rs11942031 4 97985065 [T/C] rs10049823 4 98024711 [A/G] rs7663291 4 98029212 [T/C] rs2865763 4 98045861 [A/C] rs4131679 4 98050429 [T/C] rs11942998 4 98065231 [A/C] rs10007859 4 98084663 [A/G] rs10009428 4 98096032 [T/C] rs11721581 4 98119717 [T/C] rs10009327 4 98160778 [A/G] rs13126649 4 98170598 [A/G] rs11938519 4 98182517 [T/G] rs1462758 4 98200637 [T/C] rs9307203 4 98208206 [A/C] rs9997401 4 98209654 [A/C] rs17026605 4 98210045 [A/G] rs10213670 4 98219875 [T/C] rs13119820 4 98227375 [T/G] exm2269805 4 98228716 [T/C] rs11936871 4 98230356 [A/G] rs7686247 4 98241354 [T/C] rs12512414 4 98266404 [A/G] rs1462767 4 98270800 [T/C] rs10011676 4 98292053 [A/G] rs4699559 4 98299136 [A/G] exm2269946 4 98333918 [T/C] rs9999251 4 98370425 [A/G] rs10002703 4 98371858 [A/G] kgp20815691 4 98387141 [T/C] rs2865798 4 98425582 [A/G] rs6837008 4 98432390 [T/C] rs6814444 4 98441586 [T/C] rs960450 4 98466559 [T/C] exm414687 4 98480255 [T/C] NM_174952 STPG2 EXON Missense_K445R rs13130146 4 98518164 [A/G] NM_174952 STPG2 Silent rs1508470 4 98575319 [T/C] NM_174952 STPG2 Silent exm2265736 4 98596032 [A/G] NM_174952 STPG2 Silent rs10856927 4 98596032 [A/G] NM_174952 STPG2 Silent rs11097568 4 98597993 [A/G] NM_174952 STPG2 Silent exm2082745 4 98633897 [A/G] NM_174952 STPG2 EXON Missense_R425C indel.82082 4 98633952 [D/I] NM_174952 STPG2 EXON exm414695 4 98633962 [A/G] NM_174952 STPG2 EXON Missense_P403L rs11097573 4 98635524 [T/C] NM_174952 STPG2 Silent rs17545594 4 98652689 [A/G] NM_174952 STPG2 Silent kgp12565547 4 98654773 [T/C] NM_174952 STPG2 Silent rs11735193 4 98761900 [T/C] NM_174952 STPG2 Silent exm414702 4 98761954 [A/G] NM_174952 STPG2 EXON Missense_R392W exm414707 4 98762004 [T/C] NM_174952 STPG2 EXON Missense_R375H exm2082749 4 98762005 [A/G] NM_174952 STPG2 EXON Missense_R375C rs722024 4 98819843 [A/C] NM_174952 STPG2 Silent rs968854 4 98837863 [T/C] NM_174952 STPG2 Silent rs921521 4 98838339 [A/G] NM_174952 STPG2 Silent rs1228208 4 98848093 [A/C] NM_174952 STPG2 Silent newrs150178155 4 98865046 [A/G] NM_174952 STPG2 Silent exm414715 4 98865047 [T/C] NM_174952 STPG2 Silent indel.82085 4 98865093 [I/D] NM_174952 STPG2 EXON rs13434650 4 98889886 [A/G] NM_174952 STPG2 Silent rs783960 4 98893437 [A/G] NM_174952 STPG2 EXON Synonymous_D309D exm414721 4 98893489 [T/C] NM_174952 STPG2 EXON Missense_R292Q indel.82086 4 98902341 [D/I] NM_174952 STPG2 EXON exm2256809 4 98902410 [A/C] NM_174952 STPG2 EXON Synonymous_T224T rs11097592 4 98927532 [A/G] NM_174952 STPG2 Silent rs7677523 4 98965696 [T/C] NM_174952 STPG2 Silent rs1967977 4 98966141 [A/G] NM_174952 STPG2 Silent rs4699323 4 98967484 [A/G] NM_174952 STPG2 Silent kgp8054864 4 98968686 [T/C] NM_174952 STPG2 Silent exm414735 4 99027141 [T/C] NM_174952 STPG2 EXON Missense_R192Q exm414738 4 99027159 [T/C] NM_174952 STPG2 EXON Missense_Y186C exm414739 4 99027184 [T/C] NM_174952 STPG2 EXON Missense_I178V exm414745 4 99030413 [T/C] NM_174952 STPG2 EXON Missense_G144D rs2865983 4 99033352 [T/C] NM_174952 STPG2 Silent exm-rs7664169 4 99037859 [A/G] NM_174952 STPG2 Silent exm414749 4 99049593 [A/G] NM_174952 STPG2 EXON Missense_Y125H exm414758 4 99055502 [A/G] NM_174952 STPG2 EXON Missense_A73V exm414759 4 99055517 [T/C] NM_174952 STPG2 EXON Missense_Y68C rs2903153 4 99057457 [T/C] NM_174952 STPG2 Silent exm414767 4 99064283 [A/G] NM_174952 STPG2 EXON Missense_R7C rs6854802 4 99065480 [A/C] exm2264060 4 99076132 [A/C] rs17027299 4 99078105 [T/C] rs4699611 4 99097492 [T/G] rs9994641 4 99101605 [T/C] rs6820913 4 99125659 [A/C] kgp9984121 4 99125722 [A/G] kgp3417587 4 99126372 [A/C] rs17494998 4 99160699 [T/C] rs10003496 4 99197839 [A/G] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 Silent,Silent,Silent,Silent,Silent,Silent rs10028275 4 99208535 [A/G] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 Silent,Silent,Silent,Silent,Silent,Silent rs603215 4 99214851 [A/G] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 Silent,Silent,Silent,Silent,Silent,Silent rs10516428 4 99237439 [T/G] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 Silent,Silent,Silent,Silent,Silent,Silent rs6532732 4 99265074 [A/G] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 Silent,Silent,Silent,Silent,Silent,Silent exm414779 4 99273704 [A/G] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Missense_V106M,Missense_V106M,Missense_V105M,Missense_V106M,Missense_V105M,Missense_V106M rs10002767 4 99298166 [A/G] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 Silent,Silent,Silent,Silent,Silent,Silent exm414787 4 99300260 [A/G] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Silent,Silent,Missense_E152K,Missense_E153K,Silent,Missense_E153K variant.82092 4 99300315 [A/G] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 Silent,Silent,Silent,Silent,Silent,Silent rs17027526 4 99302166 [T/C] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 Silent,Silent,Silent,Silent,Silent,Silent rs2063745 4 99322767 [T/G] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 Silent,Silent,Silent,Silent,Silent,Silent rs7671104 4 99330630 [T/C] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 Silent,Silent,Silent,Silent,Silent,Silent exm-rs10516430 4 99337881 [T/C] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 Silent,Silent,Silent,Silent,Silent,Silent rs10516430 4 99337881 [T/C] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 Silent,Silent,Silent,Silent,Silent,Silent exm414800 4 99337994 [C/G] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Missense_E240Q,Missense_E197Q,Missense_E288Q,Missense_E289Q,Missense_E239Q,Missense_E289Q exm414802 4 99338519 [T/C] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Synonymous_D255D,Synonymous_D212D,Synonymous_D303D,Synonymous_D304D,Synonymous_D254D,Synonymous_D304D exm2256811 4 99338549 [A/G] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Synonymous_G265G,Synonymous_G222G,Synonymous_G313G,Synonymous_G314G,Synonymous_G264G,Synonymous_G314G exm414809 4 99339835 [A/G] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Missense_N308S,Missense_N265S,Missense_N356S,Missense_N357S,Missense_N307S,Missense_N357S exm414811 4 99339856 [T/C] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Missense_M315T,Missense_M272T,Missense_M363T,Missense_M364T,Missense_M314T,Missense_M364T exm414828 4 99363155 [G/C] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Missense_E523Q,Missense_E480Q,Missense_E571Q,Missense_E572Q,Missense_E522Q,Missense_E571Q exm2256812 4 99363184 [T/C] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Synonymous_V532V,Synonymous_V489V,Synonymous_V580V,Synonymous_V581V,Synonymous_V531V,Synonymous_V580V exm414829 4 99363184 [T/C] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Synonymous_V532V,Synonymous_V489V,Synonymous_V580V,Synonymous_V581V,Synonymous_V531V,Synonymous_V580V exm414830 4 99363185 [A/G] NM_001100428,NM_001100430,NM_001100427,NM_001100426,NM_001100429,NM_021159 RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1,RAP1GDS1 EXON Missense_V533I,Missense_V490I,Missense_V581I,Missense_V582I,Missense_V532I,Missense_V581I exm2269947 4 99403784 [T/G] NM_005723 TSPAN5 Silent rs7677026 4 99411237 [A/G] NM_005723 TSPAN5 Silent rs955931 4 99428163 [T/C] NM_005723 TSPAN5 Silent rs17499015 4 99441349 [T/C] NM_005723 TSPAN5 Silent rs7695093 4 99443585 [A/G] NM_005723 TSPAN5 Silent rs10004753 4 99447433 [T/G] NM_005723 TSPAN5 Silent rs6835899 4 99458977 [A/G] NM_005723 TSPAN5 Silent rs2037832 4 99459528 [T/C] NM_005723 TSPAN5 Silent rs1919211 4 99463989 [A/G] NM_005723 TSPAN5 Silent exm2256814 4 99478756 [T/C] NM_005723 TSPAN5 Silent rs13141997 4 99478756 [T/C] NM_005723 TSPAN5 Silent rs1534555 4 99488312 [T/C] NM_005723 TSPAN5 Silent rs7691465 4 99491187 [T/C] NM_005723 TSPAN5 Silent rs1406311 4 99495460 [A/G] NM_005723 TSPAN5 Silent rs1893714 4 99510279 [A/G] NM_005723 TSPAN5 Silent rs846015 4 99528449 [T/C] NM_005723 TSPAN5 Silent rs2866015 4 99539498 [T/G] NM_005723 TSPAN5 Silent rs9684705 4 99542125 [T/C] NM_005723 TSPAN5 Silent rs12509170 4 99546928 [T/G] NM_005723 TSPAN5 Silent rs1528545 4 99561045 [T/C] NM_005723 TSPAN5 Silent rs871473 4 99561995 [T/C] NM_005723 TSPAN5 Silent rs6821935 4 99569639 [A/G] NM_005723 TSPAN5 Silent rs6819703 4 99595604 [T/C] rs4699665 4 99598549 [T/C] rs1528009 4 99599578 [T/G] rs7680513 4 99608363 [T/C] rs1003174 4 99617267 [A/G] rs2178125 4 99620154 [T/C] rs1528007 4 99628067 [T/C] rs10016647 4 99640223 [T/G] rs17566763 4 99643472 [A/G] rs13134776 4 99657397 [A/G] rs4699670 4 99672392 [T/C] rs4493540 4 99674593 [A/G] rs971169 4 99676081 [T/C] rs11097632 4 99687168 [A/G] rs4616760 4 99699141 [A/G] rs7438406 4 99702148 [T/C] rs6532765 4 99703142 [A/G] rs1867343 4 99719961 [T/C] rs13114194 4 99740952 [T/C] rs6851217 4 99774466 [T/C] rs11097638 4 99781443 [T/G] rs6532770 4 99783669 [A/C] rs7669736 4 99788605 [T/G] rs10032966 4 99789979 [T/C] rs10433891 4 99800310 [A/G] NM_001130679,NM_001130678,NM_001968 EIF4E,EIF4E,EIF4E EXON Silent,Silent,Silent rs994636 4 99808872 [T/C] NM_001130679,NM_001130678,NM_001968 EIF4E,EIF4E,EIF4E Silent,Silent,Silent rs17570252 4 99822905 [T/C] NM_001130679,NM_001130678,NM_001968 EIF4E,EIF4E,EIF4E Silent,Silent,Silent rs6834230 4 99847876 [T/C] NM_001130679,NM_001130678,NM_001968 EIF4E,EIF4E,EIF4E Silent,Silent,Silent rs11723037 4 99850126 [A/G] NM_001130679,NM_001130678,NM_001968 EIF4E,EIF4E,EIF4E EXON Silent,Silent,Silent rs6810489 4 99877445 [T/G] rs11726503 4 99883163 [A/G] rs1230190 4 99892196 [A/C] rs1230173 4 99909462 [A/G] rs10035037 4 99918661 [A/C] NM_015143 METAP1 Silent rs1037475 4 99952710 [A/G] NM_015143 METAP1 Silent rs7670154 4 99955535 [T/G] NM_015143 METAP1 Silent exm414899 4 99966351 [A/G] NM_015143 METAP1 EXON Missense_N226S rs1230210 4 99967691 [T/C] NM_015143 METAP1 Silent exm414905 4 99978930 [A/T] NM_015143 METAP1 EXON Missense_S320T exm414908 4 99982306 [T/C] NM_015143 METAP1 EXON Synonymous_G333G kgp8730410 4 99982879 [A/G] NM_015143 METAP1 EXON Silent kgp20708792 4 99982896 [T/C] NM_015143 METAP1 EXON Silent rs1238741 4 99983312 [T/C] NM_015143 METAP1 EXON Silent GA004155 4 99983410 [C/G] NM_015143 METAP1 EXON Silent kgp20845156 4 99983483 [T/C] NM_015143 METAP1 EXON Silent kgp21054963 4 99983517 [A/G] NM_015143 METAP1 EXON Silent kgp2808767 4 99983533 [G/C] NM_015143 METAP1 EXON Silent kgp29215171 4 99983636 [A/G] NM_015143 METAP1 EXON Silent rs1230155 4 99989259 [A/G] rs28730652 4 99992365 [A/G] NM_000671 ADH5 EXON Silent rs7669660 4 99992602 [T/C] NM_000671 ADH5 EXON Silent kgp9177058 4 99992652 [A/G] NM_000671 ADH5 EXON Silent kgp8596172 4 99992793 [A/C] NM_000671 ADH5 EXON Silent kgp9008557 4 99992853 [A/G] NM_000671 ADH5 EXON Silent GA004156 4 99992931 [A/G] NM_000671 ADH5 EXON Silent kgp5245300 4 99992994 [T/C] NM_000671 ADH5 EXON Silent kgp7824500 4 99993075 [A/C] NM_000671 ADH5 EXON Silent kgp20726394 4 99993103 [A/G] NM_000671 ADH5 EXON Silent rs1803037 4 99993151 [T/C] NM_000671 ADH5 EXON Silent kgp1400352 4 99993478 [A/C] NM_000671 ADH5 EXON Silent kgp3160165 4 99993833 [A/G] NM_000671 ADH5 EXON Synonymous_L331L indel.82096 4 99997502 [I/D] NM_000671 ADH5 EXON indel.82097 4 99997541 [D/I] NM_000671 ADH5 EXON rs17028505 4 100006184 [T/C] NM_000671 ADH5 Silent rs1154400 4 100010010 [T/C] NR_037884 LOC100507053 EXON Silent rs7687322 4 100014342 [A/G] NR_037884 LOC100507053 Silent exm-rs2602836 4 100014805 [A/G] NR_037884 LOC100507053 Silent rs2602836 4 100014805 [A/G] NR_037884 LOC100507053 Silent rs3828541 4 100042262 [A/G] NR_037884 LOC100507053 Silent GA004157 4 100045141 [T/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Silent rs10097 4 100045408 [A/G] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Silent rs29001238 4 100045479 [A/G] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Silent kgp7436153 4 100045500 [T/G] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Silent rs1042364 4 100045574 [T/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Silent variant.82102 4 100045613 [A/G] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Nonsense_R375X exm414947 4 100045616 [T/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_V374I variant.82103 4 100047740 [T/C] NR_037884,NM_000670 LOC100507053,ADH4 Silent,Silent rs1126672 4 100047812 [A/G] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Synonymous_L351L rs29001219 4 100048386 [T/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_R318H exm414957 4 100048386 [T/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_R318H rs1126671 4 100048414 [T/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_I309V newrs29001206 4 100052675 [I/D] NR_037884,NM_000670 LOC100507053,ADH4 EXON kgp10936068 4 100052733 [A/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Synonymous_P255P exm414969 4 100052818 [A/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_G227V rs6532798 4 100054827 [T/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Silent rs6532799 4 100055156 [A/G] NR_037884,NM_000670 LOC100507053,ADH4 Silent,Silent exm2240223 4 100057618 [T/G] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_K194T exm414971 4 100057727 [A/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_V158L variant.82109 4 100060210 [A/G] NR_037884,NM_000670 LOC100507053,ADH4 Silent,Silent exm414981 4 100060273 [A/G] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_P97S rs13110764 4 100062466 [A/G] NR_037884,NM_000670 LOC100507053,ADH4 Silent,Silent exm414987 4 100062721 [A/G] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_I78T exm414991 4 100062814 [T/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_C47Y kgp1310092 4 100062819 [A/G] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Synonymous_S45S exm414994 4 100063853 [T/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_K33E exm414997 4 100063901 [T/C] NR_037884,NM_000670 LOC100507053,ADH4 EXON Silent,Missense_E17K rs4148883 4 100066332 [T/C] NR_037884 LOC100507053 Silent exm2256238 4 100066332 [T/C] NR_037884 LOC100507053 Silent rs7678936 4 100078890 [A/C] NR_037884 LOC100507053 Silent rs1540053 4 100082154 [T/C] NR_037884,NR_028270 LOC100507053,PCNAP1 EXON Silent,Silent rs2000864 4 100123776 [A/C] NR_037884 LOC100507053 Silent kgp21165921 4 100124047 [T/A] NR_037884,NM_001102470 LOC100507053,ADH6 EXON Silent,Silent kgp20988880 4 100124170 [T/C] NR_037884,NM_001102470 LOC100507053,ADH6 EXON Silent,Silent kgp21215742 4 100124373 [A/G] NR_037884,NM_001102470 LOC100507053,ADH6 EXON Silent,Silent kgp20736247 4 100125087 [A/G] NR_037884,NM_001102470 LOC100507053,ADH6 EXON Silent,Silent kgp20654417 4 100125326 [T/C] NR_037884,NM_001102470 LOC100507053,ADH6 EXON Silent,Silent rs28720162 4 100126006 [I/D] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON exm415006 4 100126106 [A/G] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_V360A,Missense_V360A indel.82110 4 100126141 [I/D] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON rs4147546 4 100128682 [T/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Synonymous_V295V,Synonymous_V295V exm415013 4 100128726 [T/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_A281T,Missense_A281T rs3857224 4 100129685 [T/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 Silent,Silent,Silent indel.82111 4 100129928 [D/I] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON exm415025 4 100130004 [T/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_A217T,Missense_A217T kgp20722034 4 100130059 [T/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Synonymous_V198V,Synonymous_V198V newrs144987230 4 100131237 [A/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 Silent,Silent,Silent exm415036 4 100131291 [A/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_L172R,Missense_L172R exm415037 4 100131313 [T/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_A165T,Missense_A165T exm2240224 4 100131331 [T/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_A159T,Missense_A159T kgp29008825 4 100131435 [A/G] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_M124T,Missense_M124T exm415039 4 100131444 [A/G] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_T121I,Missense_T121I exm415041 4 100131582 [T/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_I114V,Missense_I114V exm415042 4 100131611 [A/G] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_S104F,Missense_S104F exm2062381 4 100131618 [A/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_C102G,Missense_C102G rs28720152 4 100131618 [A/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_C102G,Missense_C102G rs17219837 4 100131746 [G/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 Silent,Silent,Silent exm415045 4 100134792 [A/G] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Missense_I78T,Missense_I78T indel.82115 4 100137344 [I/D] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON rs6843298 4 100137393 [A/G] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 EXON Silent,Synonymous_L15L,Synonymous_L15L rs9995799 4 100138538 [A/C] NR_037884,NM_001102470,NM_000672 LOC100507053,ADH6,ADH6 Silent,Silent,Silent rs2173199 4 100171379 [A/G] NR_037884 LOC100507053 Silent rs7684674 4 100197359 [A/C] NR_037884 LOC100507053 Silent indel.82116 4 100201418 [I/D] NR_037884,NM_000667 LOC100507053,ADH1A EXON rs1229976 4 100202078 [T/C] NR_037884,NM_000667 LOC100507053,ADH1A Silent,Silent exm415104 4 100205641 [A/G] NR_037884,NM_000667 LOC100507053,ADH1A EXON Silent,Missense_I161T variant.82118 4 100205825 [A/C] NR_037884,NM_000667 LOC100507053,ADH1A Silent,Silent newrs28364311 4 100205829 [T/G] NR_037884,NM_000667 LOC100507053,ADH1A Silent,Silent exm415113 4 100205872 [C/G] NR_037884,NM_000667 LOC100507053,ADH1A Silent,Silent rs6828526 4 100205887 [A/G] NR_037884,NM_000667 LOC100507053,ADH1A EXON Silent,Synonymous_Y111Y GA022308 4 100208004 [T/C] NR_037884,NM_000667 LOC100507053,ADH1A EXON Silent,Silent indel.82120 4 100212162 [D/I] NR_037884,NM_000667 LOC100507053,ADH1A EXON rs35743364 4 100214460 [A/G] NR_037884 LOC100507053 Silent rs28914790 4 100227817 [T/C] NM_000668 ADH1B EXON Silent rs3840296 4 100227820 [I/D] NM_000668 ADH1B EXON kgp12414761 4 100228466 [T/C] NM_000668 ADH1B EXON Silent rs28914788 4 100228891 [T/C] NM_000668 ADH1B EXON Silent exm415134 4 100229016 [T/C] NM_000668 ADH1B EXON Missense_R370H exm415135 4 100229017 [A/G] NM_000668 ADH1B EXON Missense_R370C exm415144 4 100232704 [T/C] NM_000668 ADH1B EXON Missense_R313H exm415150 4 100232773 [T/C] NM_000668 ADH1B EXON Missense_S290N kgp21281797 4 100235194 [A/G] NM_000668 ADH1B EXON Synonymous_V204V rs1693457 4 100236762 [T/C] NM_000668 ADH1B Silent rs2075633 4 100238998 [T/C] NM_000668 ADH1B Silent exm415183 4 100239268 [A/G] NM_000668 ADH1B EXON Missense_I65T exm415185 4 100239284 [T/A] NM_000668 ADH1B EXON Missense_T60S variant.82124 4 100242466 [A/C] NM_000668 ADH1B Silent GA004166 4 100242557 [A/C] NM_000668 ADH1B EXON Silent rs2213041 4 100247351 [A/C] exm-rs1789891 4 100250419 [A/C] rs3846448 4 100254935 [A/G] exm415207 4 100260783 [T/G] NM_000669 ADH1C EXON Missense_P352T exm415208 4 100260789 [T/C] NM_000669 ADH1C EXON Missense_I350V exm415219 4 100263965 [T/C] NM_000669 ADH1C EXON Missense_R272Q kgp778645 4 100264102 [A/G] NM_000669 ADH1C EXON Synonymous_N226N exm415227 4 100264209 [T/A] NM_000669 ADH1C EXON Missense_T191S variant.82125 4 100266017 [A/G] NM_000669 ADH1C Silent GA022317 4 100266058 [T/C] NM_000669 ADH1C EXON Synonymous_G176G GA022319 4 100266157 [A/G] NM_000669 ADH1C EXON Synonymous_G143G exm415235 4 100266162 [T/C] NM_000669 ADH1C EXON Missense_V142I kgp29459060 4 100266163 [A/G] NM_000669 ADH1C EXON Synonymous_F141F exm415237 4 100266171 [A/G] NM_000669 ADH1C EXON Missense_H139Y exm415247 4 100268258 [T/C] NM_000669 ADH1C EXON Missense_S55N exm415249 4 100268279 [T/C] NM_000669 ADH1C EXON Missense_R48H variant.82127 4 100268901 [A/C] NM_000669 ADH1C Silent indel.82128 4 100268940 [I/D] NM_000669 ADH1C EXON rs283415 4 100270607 [T/C] NM_000669 ADH1C Silent rs4147541 4 100274157 [C/G] exm-rs1789924 4 100274286 [T/C] rs1614377 4 100279332 [A/G] rs7661978 4 100284199 [T/C] rs1826906 4 100301048 [T/C] rs7667212 4 100318099 [T/C] rs1442493 4 100321365 [A/G] rs991316 4 100322445 [T/C] exm-rs991316 4 100322445 [T/C] rs1442490 4 100326403 [A/G] rs994771 4 100327803 [A/G] rs729147 4 100333267 [A/G] rs284787 4 100333556 [A/G] NM_001166504,NM_000673 ADH7,ADH7 EXON Silent,Silent kgp10752409 4 100333612 [T/C] NM_001166504,NM_000673 ADH7,ADH7 EXON Silent,Silent 401070 4 100333846 [G/C] NM_001166504,NM_000673 ADH7,ADH7 EXON Silent,Silent kgp3087994 4 100333977 [T/A] NM_001166504,NM_000673 ADH7,ADH7 EXON Silent,Silent kgp29429543 4 100334062 [A/G] NM_001166504,NM_000673 ADH7,ADH7 EXON Silent,Silent kgp29279619 4 100334290 [T/C] NM_001166504,NM_000673 ADH7,ADH7 EXON Silent,Silent rs284785 4 100335586 [T/C] NM_001166504,NM_000673 ADH7,ADH7 Silent,Silent exm415261 4 100336659 [A/G] NM_001166504,NM_000673 ADH7,ADH7 EXON Missense_F379S,Missense_F371S exm415262 4 100336690 [T/C] NM_001166504,NM_000673 ADH7,ADH7 EXON Missense_V369I,Missense_V361I indel.82129 4 100336748 [D/I] NM_001166504,NM_000673 ADH7,ADH7 EXON exm2062462 4 100336769 [C/G] NM_001166504,NM_000673 ADH7,ADH7 EXON Missense_L342F,Missense_L334F exm415264 4 100336773 [A/C] NM_001166504,NM_000673 ADH7,ADH7 EXON Missense_G341V,Missense_G333V exm415268 4 100340190 [T/G] NM_001166504,NM_000673 ADH7,ADH7 EXON Missense_P325Q,Missense_P317Q exm415270 4 100340272 [A/C] NM_001166504,NM_000673 ADH7,ADH7 EXON Missense_A298S,Missense_A290S rs17529377 4 100340586 [T/C] NM_001166504,NM_000673 ADH7,ADH7 Silent,Silent kgp20947352 4 100341818 [T/C] NM_001166504,NM_000673 ADH7,ADH7 EXON Missense_M253V,Missense_M245V exm415280 4 100341818 [T/C] NM_001166504,NM_000673 ADH7,ADH7 EXON Missense_M253V,Missense_M245V exm415283 4 100341839 [T/C] NM_001166504,NM_000673 ADH7,ADH7 EXON Missense_K246E,Missense_K238E kgp20895427 4 100341839 [T/C] NM_001166504,NM_000673 ADH7,ADH7 EXON Missense_K246E,Missense_K238E exm-rs971074 4 100341861 [T/C] NM_001166504,NM_000673 ADH7,ADH7 EXON Synonymous_R238R,Synonymous_R230R variant.82132 4 100341952 [T/C] NM_001166504,NM_000673 ADH7,ADH7 Silent,Silent indel.82133 4 100348996 [I/D] NM_001166504,NM_000673 ADH7,ADH7 EXON exm2062476 4 100349003 [C/G] NM_001166504,NM_000673 ADH7,ADH7 EXON Missense_A184G,Missense_A176G exm415299 4 100349135 [T/C] NM_001166504,NM_000673 ADH7,ADH7 EXON Missense_R140H,Missense_R132H variant.82134 4 100349243 [T/C] NM_001166504,NM_000673 ADH7,ADH7 Silent,Silent indel.82135 4 100349260 [D/I] NM_001166504,NM_000673 ADH7,ADH7 EXON kgp20626905 4 100349284 [T/C] NM_001166504,NM_000673 ADH7,ADH7 EXON Missense_A123T,Missense_A115T variant.82136 4 100349333 [T/C] NM_001166504,NM_000673 ADH7,ADH7 Silent,Silent rs3737482 4 100349466 [T/C] NM_001166504,NM_000673 ADH7,ADH7 Silent,Silent variant.82137 4 100349648 [T/C] NM_001166504,NM_000673 ADH7,ADH7 Silent,Silent exm415306 4 100349669 [C/G] NM_001166504,NM_000673 ADH7,ADH7 EXON Missense_G100A,Missense_G92A kgp11897209 4 100349669 [C/G] NM_001166504,NM_000673 ADH7,ADH7 EXON Missense_G100A,Missense_G92A variant.82138 4 100349742 [A/C] NM_001166504,NM_000673 ADH7,ADH7 EXON Nonsense_G76X,Nonsense_G68X exm415313 4 100350696 [T/C] NM_001166504,NM_000673 ADH7,ADH7 EXON Missense_R58H,Missense_R50H newrs1154469 4 100356179 [T/C] NM_001166504,NM_000673 ADH7,ADH7 Silent,Silent exm2062481 4 100356377 [A/C] NM_000673 ADH7 EXON Missense_G17V newrs191030781 4 100356378 [A/C] NM_000673 ADH7 EXON Nonsense_G17X exm2062482 4 100356378 [A/C] NM_000673 ADH7 EXON Nonsense_G17X exm415324 4 100356411 [A/G] NM_000673 ADH7 EXON Nonsense_Q6X exm415325 4 100356425 [A/G] NM_000673 ADH7 EXON Missense_M1T rs17537595 4 100356466 [A/G] NM_000673 ADH7 EXON Silent kgp3988808 4 100356584 [A/G] NM_000673 ADH7 EXON Silent rs1154476 4 100360727 [T/C] rs12505135 4 100392060 [A/G] rs1442482 4 100399736 [T/C] rs1354367 4 100407388 [T/G] rs7669241 4 100430924 [A/G] exm415331 4 100434303 [A/G] NM_032149 C4orf17 EXON Missense_R22K variant.82143 4 100434365 [A/G] NM_032149 C4orf17 EXON Missense_G43S variant.82144 4 100434370 [A/G] NM_032149 C4orf17 Silent rs1354368 4 100441886 [A/G] NM_032149 C4orf17 Silent exm415335 4 100443720 [A/G] NM_032149 C4orf17 EXON Missense_G64E rs13143848 4 100443720 [A/G] NM_032149 C4orf17 EXON Missense_G64E exm415336 4 100443726 [A/G] NM_032149 C4orf17 EXON Missense_G66D exm415338 4 100443744 [A/G] NM_032149 C4orf17 EXON Missense_E72G exm415342 4 100443782 [T/C] NM_032149 C4orf17 EXON Missense_S85P exm415344 4 100443800 [A/G] NM_032149 C4orf17 EXON Missense_E91K exm415346 4 100443828 [A/C] NM_032149 C4orf17 EXON Missense_A100D exm2261570 4 100444178 [T/C] NM_032149 C4orf17 Silent rs13126513 4 100444684 [T/C] NM_032149 C4orf17 Silent exm415362 4 100451051 [A/G] NM_032149 C4orf17 EXON Missense_S161N rs10031512 4 100457841 [T/C] NM_032149 C4orf17 Silent exm415367 4 100458862 [T/C] NM_032149 C4orf17 EXON Missense_S195P exm415373 4 100460524 [T/C] NM_032149 C4orf17 EXON Missense_T278I exm415377 4 100463165 [A/G] NM_032149 C4orf17 EXON Missense_T327A variant.82152 4 100463218 [A/C] NM_032149 C4orf17 EXON Nonsense_Y344X exm415378 4 100463237 [A/G] NM_032149 C4orf17 EXON Missense_A351T exm415380 4 100463258 [T/C] NM_032149 C4orf17 EXON Missense_R358W exm415385 4 100470310 [T/G] NM_001134666,NM_001134665,NM_152292 TRMT10A,TRMT10A,TRMT10A EXON Missense_P319T,Missense_P319T,Missense_P319T exm415399 4 100472128 [A/G] NM_001134666,NM_001134665,NM_152292 TRMT10A,TRMT10A,TRMT10A EXON Missense_A222V,Missense_A222V,Missense_A222V variant.82155 4 100474941 [A/C] NM_001134666,NM_001134665,NM_152292 TRMT10A,TRMT10A,TRMT10A Silent,Silent,Silent exm415404 4 100475092 [T/C] NM_001134666,NM_001134665,NM_152292 TRMT10A,TRMT10A,TRMT10A Silent,Silent,Silent variant.82157 4 100477303 [T/C] NM_001134666,NM_001134665,NM_152292 TRMT10A,TRMT10A,TRMT10A EXON Synonymous_K165K,Synonymous_K165K,Synonymous_K165K exm415408 4 100478524 [T/C] NM_001134666,NM_001134665,NM_152292 TRMT10A,TRMT10A,TRMT10A EXON Missense_R133Q,Missense_R133Q,Missense_R133Q exm415409 4 100478534 [T/C] NM_001134666,NM_001134665,NM_152292 TRMT10A,TRMT10A,TRMT10A EXON Missense_A130T,Missense_A130T,Missense_A130T exm415417 4 100479348 [T/C] NM_001134666,NM_001134665,NM_152292 TRMT10A,TRMT10A,TRMT10A EXON Missense_R69H,Missense_R69H,Missense_R69H exm415423 4 100480417 [A/C] NM_001134666,NM_001134665,NM_152292 TRMT10A,TRMT10A,TRMT10A EXON Nonsense_E27X,Nonsense_E27X,Nonsense_E27X rs12647527 4 100487712 [A/G] NM_000253 MTTP Silent rs11933337 4 100491772 [T/C] NM_000253 MTTP Silent exm415433 4 100503146 [A/G] NM_000253 MTTP EXON Missense_G49E exm415434 4 100503159 [A/C] NM_000253 MTTP EXON Missense_D53E exm415435 4 100503173 [A/G] NM_000253 MTTP EXON Missense_R58H variant.82161 4 100503249 [A/G] NM_000253 MTTP EXON Synonymous_T83T exm415442 4 100504566 [G/C] NM_000253 MTTP EXON Missense_Q95H rs2306986 4 100504575 [G/C] NM_000253 MTTP EXON Missense_E98D exm415443 4 100504575 [G/C] NM_000253 MTTP EXON Missense_E98D exm415447 4 100504664 [T/C] NM_000253 MTTP EXON Missense_I128T rs3816873 4 100504664 [T/C] NM_000253 MTTP EXON Missense_I128T indel.82162 4 100510821 [I/D] NM_000253 MTTP EXON exm415451 4 100510825 [A/G] NM_000253 MTTP EXON Missense_N140S rs991811 4 100510859 [T/C] NM_000253 MTTP EXON Synonymous_G151G exm415456 4 100510903 [A/G] NM_000253 MTTP EXON Missense_N166S exm415458 4 100512392 [A/G] NM_000253 MTTP EXON Missense_V168I exm415461 4 100512442 [A/T] NM_000253 MTTP EXON Missense_K184N variant.82164 4 100515888 [A/G] NM_000253 MTTP Silent exm415478 4 100516022 [G/C] NM_000253 MTTP EXON Missense_H297Q exm415493 4 100521805 [A/C] NM_000253 MTTP EXON Missense_D384A exm415494 4 100521865 [A/G] NM_000253 MTTP EXON Missense_N404S newrs146331316 4 100528117 [A/G] NM_000253 MTTP EXON Synonymous_E519E exm415521 4 100532497 [T/C] NM_000253 MTTP EXON Missense_R626C exm415528 4 100532602 [A/G] NM_000253 MTTP EXON Missense_G661S exm415530 4 100532606 [C/G] NM_000253 MTTP EXON Missense_S662T exm415535 4 100534224 [C/G] NM_000253 MTTP EXON Missense_S715C indel.82167 4 100534291 [I/D] NM_000253 MTTP EXON exm415546 4 100542308 [C/G] NM_000253 MTTP EXON Missense_L811F rs881980 4 100543304 [T/G] NM_000253 MTTP Silent newrs146064714 4 100543913 [T/G] NM_000253 MTTP EXON Nonsense_G865X exm415557 4 100543956 [A/G] NM_000253 MTTP EXON Missense_K879R exm415558 4 100543977 [T/C] NM_000253 MTTP EXON Missense_P886L newrs145238214 4 100543998 [A/G] NM_000253 MTTP EXON Nonsense_W893X rs7696714 4 100588306 [T/C] rs1027223 4 100613859 [A/G] rs12648843 4 100638882 [T/C] rs13123292 4 100642113 [A/G] rs7666347 4 100666364 [T/C] rs11729480 4 100668696 [A/G] rs1426730 4 100671124 [T/C] rs12649867 4 100673830 [A/G] rs1426736 4 100678905 [T/C] rs6849369 4 100682937 [T/C] rs6834229 4 100686270 [T/C] rs6831238 4 100705272 [T/C] rs6846223 4 100728212 [T/C] rs1365495 4 100734264 [A/G] rs4699764 4 100740709 [A/C] NM_014395 DAPP1 Silent rs9994042 4 100743389 [T/C] NM_014395 DAPP1 Silent rs3775500 4 100743513 [T/G] NM_014395 DAPP1 Silent rs9307241 4 100747164 [T/C] NM_014395 DAPP1 Silent rs1465518 4 100753527 [A/G] NM_014395 DAPP1 Silent rs6813099 4 100755107 [T/C] NM_014395 DAPP1 Silent exm415565 4 100756808 [A/G] NM_014395 DAPP1 EXON Missense_A44T rs6848666 4 100770454 [T/C] NM_014395 DAPP1 Silent rs6849599 4 100770696 [A/G] NM_014395 DAPP1 Silent variant.82171 4 100787780 [A/G] NM_014395 DAPP1 Silent exm2256242 4 100789312 [A/G] NM_014395 DAPP1 EXON Synonymous_T271T variant.82172 4 100789316 [T/C] NM_014395 DAPP1 EXON Nonsense_R273X exm415595 4 100806820 [T/C] NR_024170,NM_001243736,NM_021970 LAMTOR3,LAMTOR3,LAMTOR3 EXON Silent,Silent,Missense_N39S rs10016741 4 100807221 [T/G] NR_024170,NM_001243736,NM_021970 LAMTOR3,LAMTOR3,LAMTOR3 Silent,Silent,Silent exm2062586 4 100826754 [A/G] NM_001031723 DNAJB14 EXON Missense_S281F newrs149618769 4 100826754 [A/G] NM_001031723 DNAJB14 EXON Missense_S281F exm415611 4 100826784 [A/G] NM_001031723 DNAJB14 EXON Missense_S271F exm415629 4 100844226 [T/C] NM_001031723 DNAJB14 EXON Missense_H141R rs17029662 4 100847105 [A/G] NM_001031723 DNAJB14 Silent variant.82174 4 100851780 [T/G] NM_001031723 DNAJB14 Silent exm2240240 4 100869244 [A/G] NM_002106 H2AFZ EXON Silent rs11736218 4 100876648 [T/C] kgp10140506 4 100888148 [A/G] kgp990790 4 100898934 [A/G] rs2866180 4 100945695 [T/C] kgp6459779 4 100947443 [T/C] kgp4178336 4 100955051 [T/C] rs7340886 4 101006705 [T/C] rs4699773 4 101016395 [T/C] rs11735694 4 101026248 [T/C] rs6855061 4 101055012 [A/G] rs11097688 4 101057346 [A/G] rs2866185 4 101072734 [T/G] rs6854962 4 101085258 [T/C] rs2866194 4 101100658 [A/G] rs1063821 4 101107276 [A/C] NM_145244 DDIT4L EXON Silent rs11734827 4 101108008 [A/C] NM_145244 DDIT4L EXON Silent exm2264061 4 101108057 [A/C] NM_145244 DDIT4L EXON Silent rs11726694 4 101108132 [A/G] NM_145244 DDIT4L EXON Silent exm-IND4-101327898 4 101108876 [I/D] NM_145244 DDIT4L EXON exm415684 4 101108877 [T/C] NM_145244 DDIT4L EXON Missense_K180R newrs144358521 4 101108893 [A/G] NM_145244 DDIT4L EXON Nonsense_R175X exm415687 4 101108934 [A/G] NM_145244 DDIT4L EXON Missense_S161F exm415690 4 101108978 [T/C] NM_145244 DDIT4L EXON Synonymous_S146S exm2256244 4 101108978 [T/C] NM_145244 DDIT4L EXON Synonymous_S146S exm2062633 4 101108992 [A/G] NM_145244 DDIT4L EXON Nonsense_Q142X variant.82176 4 101108992 [A/G] NM_145244 DDIT4L EXON Nonsense_Q142X exm415691 4 101109025 [T/C] NM_145244 DDIT4L EXON Missense_V131I exm415693 4 101109088 [T/C] NM_145244 DDIT4L EXON Missense_V110M variant.82177 4 101109265 [A/C] NM_145244 DDIT4L EXON Nonsense_E51X exm415709 4 101111068 [A/G] NM_145244 DDIT4L EXON Missense_P25S rs3737483 4 101114999 [T/C] rs10033894 4 101118465 [T/C] rs6849832 4 101120472 [T/C] rs10030715 4 101126405 [T/C] rs868911 4 101128211 [A/G] rs7699773 4 101131209 [A/G] rs10001464 4 101137084 [T/C] rs6825670 4 101168332 [A/G] rs4557267 4 101170196 [A/G] rs11734053 4 101176062 [T/C] rs4699395 4 101179982 [T/C] rs4235450 4 101210715 [T/C] rs4235455 4 101229453 [T/C] rs11945180 4 101238386 [A/C] rs11934689 4 101250176 [A/G] rs7696248 4 101260798 [A/G] rs10516462 4 101307674 [A/G] rs1019947 4 101310665 [T/C] rs6828453 4 101313277 [T/C] rs1368525 4 101315884 [T/C] rs1056659 4 101321764 [T/C] NM_016242,NM_001159694 EMCN,EMCN Silent,Silent rs17552895 4 101330587 [A/G] NM_016242,NM_001159694 EMCN,EMCN Silent,Silent var_4_101331438 4 101331438 [T/C] NM_016242,NM_001159694 EMCN,EMCN Silent,Silent exm415712 4 101331507 [A/G] NM_016242,NM_001159694 EMCN,EMCN EXON Missense_H253Y,Missense_H240Y exm415716 4 101337079 [T/C] NM_016242,NM_001159694 EMCN,EMCN EXON Missense_V243I,Missense_V230I variant.82181 4 101338273 [T/C] NM_016242,NM_001159694 EMCN,EMCN Silent,Silent rs7674306 4 101348412 [T/G] NM_016242,NM_001159694 EMCN,EMCN Silent,Silent exm2265858 4 101353122 [A/G] NM_016242,NM_001159694 EMCN,EMCN Silent,Silent rs357652 4 101353122 [A/G] NM_016242,NM_001159694 EMCN,EMCN Silent,Silent exm415739 4 101368728 [T/G] NM_016242,NM_001159694 EMCN,EMCN EXON Missense_T126N,Silent rs242596 4 101383092 [T/C] NM_016242,NM_001159694 EMCN,EMCN Silent,Silent exm415743 4 101386615 [T/G] NM_016242,NM_001159694 EMCN,EMCN EXON Missense_N114T,Missense_N114T exm415744 4 101386643 [T/C] NM_016242,NM_001159694 EMCN,EMCN EXON Missense_V105I,Missense_V105I exm415746 4 101386657 [A/G] NM_016242,NM_001159694 EMCN,EMCN EXON Missense_S100F,Missense_S100F rs11097720 4 101388148 [A/G] NM_016242,NM_001159694 EMCN,EMCN Silent,Silent rs924531 4 101398205 [T/G] NM_016242,NM_001159694 EMCN,EMCN Silent,Silent rs992834 4 101402501 [T/C] NM_016242,NM_001159694 EMCN,EMCN Silent,Silent rs1587549 4 101423326 [A/G] NM_016242,NM_001159694 EMCN,EMCN Silent,Silent rs1501096 4 101432849 [T/G] NM_016242,NM_001159694 EMCN,EMCN Silent,Silent rs1501089 4 101442540 [T/C] rs2036357 4 101443803 [A/G] rs1846870 4 101454173 [T/G] rs977668 4 101470231 [A/C] rs2013390 4 101479155 [T/C] rs2651581 4 101486889 [T/C] rs1827303 4 101494857 [T/C] rs6848407 4 101503277 [A/C] rs2651555 4 101503451 [A/G] rs17030327 4 101512875 [A/G] rs6857393 4 101514587 [A/G] rs7671093 4 101515453 [A/G] rs2866217 4 101523312 [A/G] rs2866224 4 101528207 [A/G] rs12641140 4 101534643 [T/C] rs10025419 4 101568956 [A/G] rs9759759 4 101573688 [A/C] rs13118526 4 101579340 [A/C] rs10030146 4 101616281 [A/G] rs7691456 4 101627782 [T/C] rs7667413 4 101627867 [A/G] rs1396287 4 101634693 [A/G] exm2269808 4 101642607 [T/C] rs9995730 4 101644204 [A/G] rs6532900 4 101684437 [A/G] rs6839885 4 101698883 [T/C] rs2089540 4 101699382 [A/G] rs4699824 4 101722485 [A/G] rs1567282 4 101725061 [A/G] rs10008442 4 101728821 [A/G] rs6419156 4 101748186 [A/G] rs17030500 4 101766650 [T/C] rs6847657 4 101774201 [A/G] rs6841123 4 101796290 [A/G] rs978155 4 101800766 [T/C] rs6851921 4 101845129 [A/G] rs17030661 4 101868169 [T/C] rs2645370 4 101886921 [T/C] rs2645373 4 101904475 [A/G] rs4699014 4 101906493 [A/G] rs2851048 4 101924060 [T/C] exm-rs1405687 4 101931826 [A/G] rs2851057 4 101933417 [T/G] rs1880942 4 101953182 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent exm-rs2851060 4 101953322 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs2851060 4 101953322 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs2037773 4 101958617 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs2178006 4 101970512 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs1358312 4 101971451 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs6851231 4 101983607 [T/G] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs3804357 4 102002123 [A/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent var_4_102014933 4 102014933 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA EXON Missense_S261N,Missense_S261N,Missense_S261N rs17030746 4 102016486 [A/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent exm415784 4 102019631 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA EXON Missense_M179V,Missense_M179V,Missense_M179V exm415788 4 102019648 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA EXON Missense_R173H,Missense_R173H,Missense_R173H rs17030753 4 102021290 [A/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs2732512 4 102033997 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs2659546 4 102037719 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs6820738 4 102041236 [T/G] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs17030795 4 102048076 [A/G] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs1405688 4 102074134 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs1527351 4 102084331 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs13142024 4 102089849 [A/G] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs2659501 4 102093807 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs2850979 4 102094764 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs2659504 4 102095497 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs1395475 4 102115186 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent exm415797 4 102117114 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA EXON Missense_R73Q,Missense_R73Q,Missense_R73Q exm415802 4 102117241 [A/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA EXON Missense_A31S,Missense_A31S,Missense_A31S rs13112866 4 102120454 [A/G] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs2850950 4 102158450 [A/G] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs3804406 4 102166581 [A/G] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs3804408 4 102167216 [A/G] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs2850373 4 102168234 [A/G] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs2583405 4 102172981 [A/G] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs2850969 4 102183594 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent exm2265859 4 102199215 [A/G] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent exm-rs1441433 4 102209360 [T/G] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs11943655 4 102211124 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs2850369 4 102232985 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs6532924 4 102239170 [T/C] NM_000944,NM_001130692,NM_001130691 PPP3CA,PPP3CA,PPP3CA Silent,Silent,Silent rs13135111 4 102301819 [A/C] rs17031254 4 102325626 [T/G] rs2044044 4 102333865 [A/G] rs4699215 4 102343571 [T/C] exm2269809 4 102343571 [T/C] rs4398526 4 102382498 [A/C] rs17031304 4 102395086 [A/G] rs6846071 4 102402215 [T/G] rs1863575 4 102407109 [A/G] rs890448 4 102432702 [T/C] rs13434873 4 102451022 [T/C] rs10022442 4 102470700 [T/G] rs17031441 4 102484972 [T/C] rs2723058 4 102508948 [T/C] rs7661775 4 102525045 [A/G] rs11930552 4 102526313 [A/G] rs17031503 4 102551731 [T/C] rs7663310 4 102565480 [A/C] rs17250305 4 102570753 [A/C] rs7682523 4 102572251 [T/C] rs7676236 4 102574367 [A/G] rs2866422 4 102603328 [A/C] rs17251102 4 102608288 [A/G] rs12644085 4 102613885 [A/G] rs7669524 4 102614169 [A/G] rs11723683 4 102616166 [A/G] rs13149930 4 102624280 [T/C] rs17252142 4 102634710 [T/C] rs12512546 4 102638137 [T/C] rs2866430 4 102638201 [A/G] rs12501586 4 102642012 [T/C] exm2269810 4 102642526 [T/C] rs7675129 4 102675023 [T/C] rs6815355 4 102677450 [A/G] rs871061 4 102679337 [A/C] rs10031210 4 102714886 [A/G] NM_017935,NM_001127507 BANK1,BANK1 Silent,Silent rs11944613 4 102718795 [A/G] NM_017935,NM_001127507 BANK1,BANK1 Silent,Silent rs6833249 4 102726073 [A/G] NM_017935,NM_001127507 BANK1,BANK1 Silent,Silent rs10028805 4 102737250 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent rs1421627 4 102739536 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent rs4276281 4 102746780 [A/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent exm415820 4 102751014 [C/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_W40C,Silent,Missense_W10C exm415825 4 102751045 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_V51I,Silent,Missense_V21I exm415826 4 102751046 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_V51A,Silent,Missense_V21A exm415827 4 102751072 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_Y60H,Silent,Missense_Y30H exm415828 4 102751076 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_R61H,Silent,Missense_R31H newrs138058115 4 102751148 [T/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Nonsense_L85X,Silent,Nonsense_L55X rs4637409 4 102753408 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent rs6849308 4 102776083 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent indel.82185 4 102776336 [I/D] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON rs4572884 4 102783351 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent exm415849 4 102783698 [T/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_F214V,Missense_F81V,Missense_F184V exm415852 4 102783776 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_R240W,Missense_R107W,Missense_R210W rs12331849 4 102790818 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent exm415857 4 102791709 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_V271I,Missense_V138I,Missense_V241I exm415859 4 102791797 [T/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_C300F,Missense_C167F,Missense_C270F rs17031755 4 102792354 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent exm415864 4 102816469 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_I304T,Missense_I171T,Missense_I274T exm415865 4 102816487 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_V310A,Missense_V177A,Missense_V280A exm2062735 4 102816503 [C/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_F315L,Missense_F182L,Missense_F285L exm415867 4 102816505 [A/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_K316T,Missense_K183T,Missense_K286T rs11934097 4 102818067 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent indel.82187 4 102839161 [I/D] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON exm415876 4 102839254 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_S372P,Missense_S239P,Missense_S342P exm415878 4 102839287 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_A383T,Missense_A250T,Missense_A353T rs2631255 4 102849920 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent rs17208914 4 102854390 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent rs2850374 4 102893323 [T/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent rs2631273 4 102899504 [T/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent rs2850377 4 102912159 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent rs6844449 4 102936592 [T/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent exm415891 4 102946420 [C/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_A450P,Missense_A317P,Missense_A420P exm2062744 4 102946501 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_S477G,Missense_S344G,Missense_S447G exm415896 4 102946592 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_S507N,Missense_S374N,Missense_S477N rs2631267 4 102948472 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent rs2631268 4 102948730 [T/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent indel.82190 4 102951172 [D/I] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON exm415907 4 102951252 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_P577L,Missense_P444L,Missense_P547L exm415916 4 102965016 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_R641G,Missense_R508G,Missense_R611G exm415919 4 102965043 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_C650R,Missense_C517R,Missense_C620R rs2850395 4 102968082 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent rs4550926 4 102983720 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 Silent,Silent,Silent exm415932 4 102993529 [A/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_K757T,Missense_K624T,Missense_K727T exm415933 4 102993534 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_Y759H,Missense_Y626H,Missense_Y729H exm415934 4 102993543 [T/C] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_H762Y,Missense_H629Y,Missense_H732Y exm415936 4 102994851 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Missense_R770Q,Missense_R637Q,Missense_R740Q rs6842661 4 102995263 [A/G] NM_017935,NM_001127507,NM_001083907 BANK1,BANK1,BANK1 EXON Silent,Silent,Silent rs7675363 4 102998867 [T/C] rs6532990 4 103013903 [T/C] rs238487 4 103021348 [T/C] rs17032037 4 103023170 [A/G] kgp4932258 4 103023844 [T/C] rs238490 4 103023963 [A/C] rs236780 4 103084840 [T/C] rs17032126 4 103088491 [A/G] exm2261574 4 103091730 [A/G] exm2256251 4 103096805 [T/C] rs11727065 4 103098004 [A/G] rs190223 4 103105685 [A/C] rs1573494 4 103106466 [A/G] rs439538 4 103107786 [T/C] rs238449 4 103112813 [A/C] rs7665350 4 103115022 [A/G] rs6419158 4 103117289 [A/C] rs151382 4 103117826 [T/C] rs151375 4 103122348 [T/C] rs1440235 4 103125285 [A/G] rs11735227 4 103125383 [A/G] rs7667281 4 103133044 [T/C] rs1540052 4 103137977 [A/G] rs13126885 4 103173749 [T/C] NM_001135147 SLC39A8 EXON Silent rs2298752 4 103177071 [A/G] NM_001135147 SLC39A8 Silent rs151392 4 103183935 [T/C] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 EXON Silent,Silent,Silent,Silent exm415946 4 103184239 [A/G] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 EXON Silent,Missense_L449F,Missense_L382F,Missense_L449F exm415951 4 103184317 [C/G] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 EXON Silent,Missense_V423L,Missense_V356L,Missense_V423L exm415954 4 103188709 [T/C] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 EXON Missense_A391T,Missense_A391T,Missense_A324T,Missense_A391T exm415956 4 103188714 [T/C] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 EXON Missense_N389S,Missense_N389S,Missense_N322S,Missense_N389S rs151401 4 103190128 [A/G] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 Silent,Silent,Silent,Silent rs151402 4 103190486 [A/G] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 Silent,Silent,Silent,Silent rs10014145 4 103200577 [A/G] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 Silent,Silent,Silent,Silent rs2165265 4 103203500 [T/G] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 Silent,Silent,Silent,Silent rs233805 4 103212864 [T/G] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 Silent,Silent,Silent,Silent rs7699390 4 103218446 [A/G] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 Silent,Silent,Silent,Silent exm415974 4 103225569 [G/C] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 EXON Missense_P249A,Missense_P249A,Missense_P182A,Missense_P249A rs6829701 4 103227073 [A/G] NM_001135147,NM_001135146,NM_001135148,NM_022154 SLC39A8,SLC39A8,SLC39A8,SLC39A8 Silent,Silent,Silent,Silent rs7664683 4 103255692 [T/C] NM_001135147,NM_001135146,NM_022154 SLC39A8,SLC39A8,SLC39A8 Silent,Silent,Silent rs11931217 4 103271888 [A/C] rs10516494 4 103285705 [A/G] rs6843751 4 103308071 [T/C] rs962399 4 103308907 [A/G] rs10856967 4 103327536 [T/C] rs1381894 4 103333139 [T/C] rs12510124 4 103337685 [A/G] rs964504 4 103349049 [T/G] rs13115343 4 103365532 [T/G] rs13116385 4 103373286 [A/G] rs10000030 4 103374154 [A/G] rs1585607 4 103376474 [T/C] rs1313925 4 103377576 [T/C] rs2085548 4 103397014 [T/C] rs1599961 4 103443569 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 Silent,Silent rs1598856 4 103446115 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 Silent,Silent variant.82194 4 103446714 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Synonymous_Q13Q,Synonymous_Q13Q rs230535 4 103448582 [A/C] NM_003998,NM_001165412 NFKB1,NFKB1 Silent,Silent rs4647992 4 103455347 [T/C] NM_003998,NM_001165412 NFKB1,NFKB1 Silent,Silent rs230529 4 103457418 [T/C] NM_003998,NM_001165412 NFKB1,NFKB1 Silent,Silent exm2256252 4 103488170 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Synonymous_K95K,Synonymous_K94K exm416012 4 103488291 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_G136S,Missense_G135S exm416017 4 103498185 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_R187Q,Missense_R186Q newrs111881231 4 103498201 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 Silent,Silent exm416022 4 103500181 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_A239T,Missense_A238T 1KG_4_103504086 4 103504086 [I/D] NM_003998,NM_001165412 NFKB1,NFKB1 EXON exm416030 4 103505889 [A/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_K326N,Missense_K325N rs1020759 4 103510511 [T/C] NM_003998,NM_001165412 NFKB1,NFKB1 Silent,Silent exm416050 4 103517336 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_D448N,Missense_D447N exm416051 4 103517382 [T/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_I463T,Missense_I462T exm416053 4 103517418 [G/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_A475G,Missense_A474G exm416055 4 103517463 [T/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_T490I,Missense_T489I exm416057 4 103518681 [A/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_N500K,Missense_N499K exm416059 4 103518700 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_M507V,Missense_M506V exm416062 4 103518782 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_R534H,Missense_R533H exm416064 4 103522068 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_I552V,Missense_I551V exm416065 4 103522114 [T/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_T567I,Missense_T566I exm416066 4 103522150 [A/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_R579K,Missense_R578K exm2240246 4 103527699 [A/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_E600A,Missense_E599A exm416071 4 103527745 [T/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_L615F,Missense_L614F indel.82197 4 103527788 [D/I] NM_003998,NM_001165412 NFKB1,NFKB1 EXON exm416090 4 103528817 [T/G] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_H712Q,Missense_H711Q exm416115 4 103534700 [T/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_S904L,Missense_S903L exm416118 4 103537592 [T/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Synonymous_D917D,Synonymous_D916D exm416122 4 103537672 [A/C] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_T944N,Missense_T943N exm2062823 4 103537711 [T/A] NM_003998,NM_001165412 NFKB1,NFKB1 EXON Missense_H957L,Missense_H956L rs11733293 4 103545253 [T/C] exm-rs4698861 4 103545487 [A/G] exm-rs7665090 4 103551603 [A/G] exm416132 4 103553221 [A/G] NM_005908 MANBA EXON Missense_I878T indel.82198 4 103553309 [D/I] NM_005908 MANBA EXON exm416135 4 103553318 [T/G] NM_005908 MANBA EXON Missense_M846L exm416137 4 103553372 [T/C] NM_005908 MANBA EXON Missense_V828I exm2274039 4 103553381 [A/C] NM_005908 MANBA EXON Missense_A825S exm416149 4 103556049 [A/C] NM_005908 MANBA EXON Missense_V771F exm416155 4 103556169 [T/C] NM_005908 MANBA EXON Missense_V731M exm416156 4 103556180 [A/G] NM_005908 MANBA EXON Missense_S727F rs2866413 4 103557077 [A/G] NM_005908 MANBA EXON Missense_T701M exm416162 4 103557077 [A/G] NM_005908 MANBA EXON Missense_T701M variant.82199 4 103557149 [T/C] NM_005908 MANBA EXON Nonsense_W677X variant.82200 4 103560962 [T/C] NM_005908 MANBA EXON Missense_R641H exm416171 4 103560963 [A/G] NM_005908 MANBA EXON Missense_R641C exm2269812 4 103575067 [T/C] NM_005908 MANBA Silent rs228614 4 103578637 [A/G] NM_005908 MANBA Silent variant.82201 4 103578838 [A/C] NM_005908 MANBA Silent exm416185 4 103578847 [A/C] NM_005908 MANBA EXON Missense_L566V exm416188 4 103578861 [A/G] NM_005908 MANBA EXON Missense_P561L var_4_103578921 4 103578921 [T/C] NM_005908 MANBA EXON Nonsense_W541X exm416193 4 103579044 [T/C] NM_005908 MANBA EXON Missense_R500H variant.82204 4 103586010 [A/C] NM_005908 MANBA Silent exm416207 4 103590196 [T/C] NM_005908 MANBA EXON Missense_D414G 1KG_4_103590196 4 103590196 [D/I] NM_005908 MANBA EXON variant.82205 4 103590207 [T/C] NM_005908 MANBA Silent newrs145931742 4 103595075 [A/C] NM_005908 MANBA Silent exm416214 4 103595227 [A/C] NM_005908 MANBA EXON Missense_V321F rs227284 4 103607635 [A/G] NM_005908 MANBA Silent exm416221 4 103611845 [T/C] NM_005908 MANBA EXON Missense_V253I rs227368 4 103611845 [T/C] NM_005908 MANBA EXON Missense_V253I rs17033210 4 103639840 [A/G] NM_005908 MANBA Silent rs223502 4 103640758 [T/C] NM_005908 MANBA Silent variant.82209 4 103644033 [A/G] NM_005908 MANBA EXON Missense_R182W exm416230 4 103644041 [T/C] NM_005908 MANBA EXON Missense_N179S exm416233 4 103644098 [T/C] NM_005908 MANBA EXON Missense_R160H exm416234 4 103644099 [A/G] NM_005908 MANBA EXON Missense_R160C indel.82210 4 103644195 [D/I] NM_005908 MANBA EXON rs223482 4 103687208 [A/G] exm2062878 4 103720097 [G/C] NM_003340,NM_181888,NM_181891,NM_181886,NM_181892,NM_181890,NM_181889,NM_181887,NM_181893 UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3 EXON Silent,Silent,Silent,Silent,Missense_A146P,Silent,Silent,Silent,Silent rs223418 4 103730493 [T/G] NM_003340,NM_181888,NM_181891,NM_181886,NM_181892,NM_181890,NM_181889,NM_181887,NM_181893 UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm416267 4 103730849 [T/G] NM_003340,NM_181888,NM_181891,NM_181886,NM_181892,NM_181890,NM_181889,NM_181887,NM_181893 UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3 EXON Missense_Q34K,Missense_Q34K,Missense_Q34K,Missense_Q34K,Missense_Q34K,Missense_Q34K,Missense_Q34K,Missense_Q34K,Missense_Q36K rs10005010 4 103734219 [T/C] NM_003340,NM_181888,NM_181891,NM_181886,NM_181892,NM_181890,NM_181889,NM_181887,NM_181893 UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.82214 4 103747637 [T/G] NM_003340,NM_181888,NM_181891,NM_181886,NM_181892,NM_181890,NM_181889,NM_181887,NM_181893 UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs223391 4 103748224 [A/G] NM_003340,NM_181888,NM_181891,NM_181886,NM_181892,NM_181890,NM_181889,NM_181887,NM_181893 UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3,UBE2D3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs223374 4 103758301 [T/C] NM_181890,NM_181893 UBE2D3,UBE2D3 Silent,Silent variant.82215 4 103789867 [T/C] NM_181890,NM_181893 UBE2D3,UBE2D3 Silent,Silent var_4_103789884 4 103789885 [I/D] NM_181890,NM_181893 UBE2D3,UBE2D3 EXON exm416350 4 103853409 [A/G] NM_001100874,NR_047515,NR_047513,NM_139173 SLC9B1,SLC9B1,SLC9B1,SLC9B1 EXON Missense_M234T,Silent,Silent,Missense_M234T rs6419160 4 103859805 [A/G] NM_001100874,NR_047515,NR_047513,NM_139173 SLC9B1,SLC9B1,SLC9B1,SLC9B1 Silent,Silent,Silent,Silent var_4_103866348 4 103866349 [D/I] NM_001100874,NR_047515,NR_047513,NM_139173 SLC9B1,SLC9B1,SLC9B1,SLC9B1 exm416354 4 103866456 [T/C] NM_001100874,NR_047515,NR_047513,NM_139173 SLC9B1,SLC9B1,SLC9B1,SLC9B1 EXON Missense_V183I,Silent,Silent,Missense_V183I exm2240250 4 103866468 [T/G] NM_001100874,NR_047515,NR_047513,NM_139173 SLC9B1,SLC9B1,SLC9B1,SLC9B1 EXON Missense_H179N,Silent,Silent,Missense_H179N exm2240251 4 103866469 [A/C] NM_001100874,NR_047515,NR_047513,NM_139173 SLC9B1,SLC9B1,SLC9B1,SLC9B1 EXON Missense_R178S,Silent,Silent,Missense_R178S exm2062937 4 103911041 [T/A] NM_001100874,NR_047515,NR_047513,NM_139173 SLC9B1,SLC9B1,SLC9B1,SLC9B1 EXON Missense_T43S,Silent,Silent,Missense_T43S exm416370 4 103911069 [A/C] NM_001100874,NR_047515,NR_047513,NM_139173 SLC9B1,SLC9B1,SLC9B1,SLC9B1 EXON Missense_Q33H,Silent,Silent,Missense_Q33H rs9994654 4 103919065 [A/C] NM_001100874,NR_047515,NR_047513,NM_139173 SLC9B1,SLC9B1,SLC9B1,SLC9B1 Silent,Silent,Silent,Silent indel.82222 4 103947625 [I/D] NM_178833 SLC9B2 EXON exm416378 4 103947631 [T/C] NM_178833 SLC9B2 EXON Missense_I504V exm416383 4 103950001 [T/C] NM_178833 SLC9B2 EXON Missense_R432Q exm416387 4 103952869 [G/C] NM_178833 SLC9B2 EXON Missense_P415A exm416389 4 103952890 [A/C] NM_178833 SLC9B2 EXON Missense_V408L exm416393 4 103964473 [T/C] NM_178833 SLC9B2 EXON Missense_M376V exm416396 4 103964529 [A/C] NM_178833 SLC9B2 EXON Missense_F357C exm416398 4 103966054 [T/C] NM_178833 SLC9B2 EXON Missense_R330H exm416403 4 103968223 [T/C] NM_178833 SLC9B2 EXON Missense_I292V exm416417 4 103970062 [A/C] NM_178833 SLC9B2 EXON Missense_G234V exm2062959 4 103970116 [A/G] NM_178833 SLC9B2 EXON Missense_A216V exm416420 4 103970156 [T/C] NM_178833 SLC9B2 EXON Missense_V203I exm416421 4 103971449 [T/C] NM_178833 SLC9B2 EXON Missense_S178N exm416422 4 103971481 [C/G] NM_178833 SLC9B2 EXON Missense_Q167H exm416423 4 103971482 [T/C] NM_178833 SLC9B2 EXON Missense_Q167R exm416426 4 103971500 [A/G] NM_178833 SLC9B2 EXON Missense_V161A exm416428 4 103971506 [A/G] NM_178833 SLC9B2 EXON Missense_I159T rs6821545 4 103975725 [T/C] NM_178833 SLC9B2 Silent rs13149311 4 103977700 [T/C] NM_178833 SLC9B2 Silent exm416430 4 103978975 [A/G] NM_178833 SLC9B2 EXON Missense_P142L exm416435 4 103979051 [T/C] NM_178833 SLC9B2 EXON Missense_G117R kgp29349068 4 103998977 [A/C] NM_020139 BDH2 EXON Silent kgp10889572 4 103999220 [A/G] NM_020139 BDH2 EXON Silent kgp21090179 4 104000355 [T/C] NM_020139 BDH2 EXON Silent rs7666067 4 104000498 [T/C] NM_020139 BDH2 EXON Silent rs12503399 4 104000853 [T/C] NM_020139 BDH2 EXON Silent exm416458 4 104003327 [A/G] NM_020139 BDH2 EXON Missense_R199W kgp21200894 4 104004073 [T/C] NM_020139 BDH2 EXON Synonymous_T182T rs6825519 4 104007105 [T/C] NM_020139 BDH2 Silent variant.82225 4 104007635 [A/C] NM_020139 BDH2 Silent exm416472 4 104007635 [A/C] NM_020139 BDH2 Silent kgp21296965 4 104007643 [T/C] NM_020139 BDH2 EXON Missense_V138I exm416477 4 104007682 [A/G] NM_020139 BDH2 EXON Missense_S125P exm416481 4 104012365 [A/G] NM_020139 BDH2 EXON Missense_M109T exm416483 4 104012371 [T/C] NM_020139 BDH2 EXON Missense_R107H exm416484 4 104012372 [A/G] NM_020139 BDH2 EXON Missense_R107C exm416485 4 104012377 [T/A] NM_020139 BDH2 EXON Missense_N105I exm416491 4 104016361 [T/C] NM_020139 BDH2 EXON Synonymous_P50P kgp20652906 4 104016361 [T/C] NM_020139 BDH2 EXON Synonymous_P50P exm416492 4 104016362 [A/G] NM_020139 BDH2 EXON Missense_P50L exm416494 4 104016424 [T/G] NM_020139 BDH2 EXON Missense_E29D exm416495 4 104016431 [A/G] NM_020139 BDH2 EXON Missense_A27V exm2062984 4 104017377 [A/G] NM_020139 BDH2 EXON Missense_T12M exm416504 4 104027405 [T/C] NM_001813 CENPE EXON Missense_D2694N exm416511 4 104030085 [T/C] NM_001813 CENPE EXON Missense_R2629Q exm416518 4 104030239 [G/C] NM_001813 CENPE EXON Missense_Q2578E exm416526 4 104032167 [T/C] NM_001813 CENPE EXON Synonymous_V2514V exm416541 4 104041340 [A/G] NM_001813 CENPE EXON Missense_L2432F exm416544 4 104041412 [T/G] NM_001813 CENPE EXON Missense_Q2408K exm416549 4 104044197 [G/C] NM_001813 CENPE EXON Missense_S2325C exm416551 4 104044243 [T/C] NM_001813 CENPE EXON Missense_I2310V exm416552 4 104053867 [A/T] NM_001813 CENPE EXON Missense_F2303I rs2720460 4 104054686 [A/G] NM_001813 CENPE Silent exm416559 4 104054883 [A/T] NM_001813 CENPE EXON Missense_K2230I exm416564 4 104055000 [A/G] NM_001813 CENPE EXON Missense_I2191T exm416567 4 104057383 [T/C] NM_001813 CENPE EXON Missense_Y2146C variant.82232 4 104059503 [T/C] NM_001813 CENPE Silent exm416571 4 104059542 [A/G] NM_001813 CENPE EXON Missense_T2090M exm416577 4 104060947 [G/C] NM_001813 CENPE EXON Missense_R2068T exm2063015 4 104061537 [T/C] NM_001813 CENPE EXON Missense_R1930H exm416590 4 104061551 [T/G] NM_001813 CENPE EXON Missense_E1925D exm416591 4 104061555 [T/C] NM_001813 CENPE EXON Missense_Q1924R exm416593 4 104061978 [T/G] NM_001813 CENPE EXON Missense_K1916T exm416594 4 104061993 [G/C] NM_001813 CENPE EXON Missense_S1911T exm416602 4 104062206 [T/C] NM_001813 CENPE EXON Missense_N1840S exm2063022 4 104065609 [T/C] NM_001813 CENPE EXON Missense_H1675R exm2240261 4 104065645 [A/G] NM_001813 CENPE EXON Missense_I1663T exm2063023 4 104065697 [T/C] NM_001813 CENPE EXON Missense_I1646V exm416622 4 104066273 [T/G] NM_001813 CENPE EXON Missense_R1597S indel.82234 4 104066275 [I/D] NM_001813 CENPE EXON exm416623 4 104066290 [T/G] NM_001813 CENPE EXON Missense_K1592Q exm416625 4 104066323 [T/G] NM_001813 CENPE EXON Missense_S1581R exm416631 4 104066461 [A/G] NM_001813 CENPE EXON Missense_F1535L rs2615542 4 104066461 [A/G] NM_001813 CENPE EXON Missense_F1535L exm416633 4 104066814 [T/C] NM_001813 CENPE EXON Missense_K1480E variant.82235 4 104067021 [A/G] NM_001813 CENPE EXON Nonsense_Q1460X exm416639 4 104067112 [T/A] NM_001813 CENPE EXON Missense_R1429S exm416640 4 104067125 [T/C] NM_001813 CENPE EXON Missense_G1425E exm416641 4 104067126 [T/C] NM_001813 CENPE EXON Missense_G1425R exm416648 4 104068553 [A/T] NM_001813 CENPE EXON Missense_H1365L exm416649 4 104068584 [T/C] NM_001813 CENPE EXON Missense_K1355E exm416656 4 104070041 [A/G] NM_001813 CENPE EXON Missense_T1268I exm416659 4 104070095 [C/G] NM_001813 CENPE EXON Missense_T1250S exm416666 4 104070433 [T/A] NM_001813 CENPE EXON Missense_M1177L exm416679 4 104074204 [T/C] NM_001813 CENPE EXON Missense_M1079I exm2275764 4 104079848 [A/C] NM_001813 CENPE EXON Missense_D933Y exm416700 4 104080033 [T/C] NM_001813 CENPE EXON Missense_K871R exm416702 4 104080217 [A/C] NM_001813 CENPE EXON Missense_S851A exm416722 4 104082324 [T/C] NM_001813 CENPE EXON Missense_V684I exm416726 4 104082545 [T/C] NM_001813 CENPE EXON Missense_K638E variant.82239 4 104097207 [T/C] NM_001813 CENPE Silent rs11724309 4 104098605 [A/G] NM_001813 CENPE Silent exm416772 4 104115535 [T/C] NM_001813 CENPE EXON Missense_R208K exm416778 4 104117108 [C/G] NM_001813 CENPE EXON Missense_A109G exm416790 4 104117353 [A/G] NM_001813 CENPE EXON Missense_P69S rs6850461 4 104120041 [T/C] exm-rs4699052 4 104137790 [T/C] rs4699052 4 104137790 [T/C] exm2269949 4 104182954 [T/C] rs11723084 4 104185435 [A/G] rs10516502 4 104214616 [A/G] exm2265738 4 104215332 [A/G] rs6820979 4 104216086 [T/C] rs17219677 4 104235380 [T/C] rs6533083 4 104241267 [A/G] rs7682050 4 104245131 [T/C] rs1996346 4 104250324 [A/G] rs7662107 4 104258396 [T/C] rs11734572 4 104288620 [A/G] rs6828829 4 104335667 [A/G] rs2176313 4 104337172 [A/G] kgp3627460 4 104340317 [A/G] rs420934 4 104414511 [A/G] rs340451 4 104424934 [T/C] rs10001814 4 104428500 [A/G] rs445761 4 104447091 [T/G] rs405717 4 104472071 [A/G] rs419391 4 104474749 [A/G] rs434269 4 104483419 [T/C] rs2588907 4 104493370 [A/G] rs2765 4 104510766 [A/G] NM_001059 TACR3 EXON Silent exm2265739 4 104510766 [A/G] NM_001059 TACR3 EXON Silent exm416803 4 104510892 [T/C] NM_001059 TACR3 EXON Missense_A449T exm416805 4 104510916 [A/G] NM_001059 TACR3 EXON Missense_R441C variant.82241 4 104512700 [T/C] NM_001059 TACR3 EXON Nonsense_W343X variant.82242 4 104512841 [T/C] NM_001059 TACR3 Silent rs11722288 4 104532950 [A/G] NM_001059 TACR3 Silent rs11935705 4 104542360 [A/G] NM_001059 TACR3 Silent rs17303520 4 104543891 [A/C] NM_001059 TACR3 Silent rs3796974 4 104545224 [T/C] NM_001059 TACR3 Silent rs10516503 4 104553287 [A/C] NM_001059 TACR3 Silent rs3796962 4 104574265 [A/G] NM_001059 TACR3 Silent exm416824 4 104577382 [T/C] NM_001059 TACR3 EXON Missense_K286R exm416826 4 104577415 [T/C] NM_001059 TACR3 EXON Nonsense_W275X exm416828 4 104577494 [T/C] NM_001059 TACR3 EXON Missense_I249V variant.82244 4 104579371 [T/C] NM_001059 TACR3 Silent rs11733295 4 104583111 [A/G] NM_001059 TACR3 Silent rs10516506 4 104595253 [T/C] NM_001059 TACR3 Silent rs3733632 4 104640935 [A/G] NM_001059 TACR3 EXON Silent rs233992 4 104657070 [T/G] rs233966 4 104683461 [T/G] rs12648020 4 104716213 [A/G] rs12640158 4 104721398 [T/C] rs6837683 4 104737913 [A/C] rs12501131 4 104753831 [A/G] rs10488855 4 104763949 [A/G] rs6831167 4 104766986 [A/G] rs2106987 4 104789707 [T/C] rs6845362 4 104834423 [A/C] rs17266258 4 104838047 [T/G] rs6853964 4 104843913 [T/G] rs6533118 4 104850169 [A/C] rs6533126 4 104882439 [T/C] rs4272013 4 104890866 [A/G] rs2866673 4 104903879 [A/G] rs1406639 4 104944893 [A/G] rs12645446 4 104963745 [T/C] rs2134026 4 104972057 [T/C] rs950882 4 104978031 [T/C] rs1304013 4 105013863 [T/C] rs17306764 4 105039193 [T/C] rs10470905 4 105053161 [A/C] rs882920 4 105059801 [T/C] exm2269813 4 105061061 [T/G] rs13108980 4 105061306 [T/C] rs795121 4 105078507 [A/G] rs795135 4 105084811 [T/G] rs17034369 4 105142122 [T/G] rs4698914 4 105151560 [A/G] rs1919114 4 105160744 [T/G] rs1528377 4 105183237 [A/G] rs4698917 4 105184685 [T/G] rs10002598 4 105231571 [T/C] rs17268078 4 105239875 [A/G] rs11933178 4 105259892 [T/G] rs17034450 4 105267911 [A/G] rs6843675 4 105306929 [T/C] rs10007721 4 105333354 [A/C] exm2261576 4 105375423 [T/G] rs3897938 4 105409696 [T/G] NM_025212 CXXC4 Silent rs7682418 4 105428417 [A/G] rs4414954 4 105432249 [T/C] rs10516510 4 105437362 [A/G] exm2269814 4 105450529 [T/C] rs1859157 4 105454573 [T/C] rs17034592 4 105454960 [T/C] rs3017687 4 105475331 [A/G] rs6840786 4 105475979 [A/G] rs17269632 4 105476932 [T/C] rs17034632 4 105492066 [T/C] rs3017707 4 105493321 [A/G] rs1158978 4 105495590 [A/G] rs3017722 4 105507674 [T/C] rs494660 4 105509600 [A/G] rs17034684 4 105511810 [T/G] rs607012 4 105512358 [T/C] rs680550 4 105528713 [T/G] rs578265 4 105543843 [T/C] rs728123 4 105565218 [A/G] rs624909 4 105566441 [T/G] rs4698923 4 105581394 [A/G] rs10005347 4 105582452 [T/C] rs9986027 4 105591133 [T/G] rs506932 4 105598022 [T/C] rs2651339 4 105624313 [T/G] rs2522502 4 105653263 [A/G] rs6847856 4 105679402 [A/G] rs4698925 4 105691743 [T/C] rs2725762 4 105700542 [A/G] rs1981542 4 105704161 [T/G] rs2051780 4 105716540 [T/C] rs2023829 4 105732804 [A/G] rs2725771 4 105758739 [T/G] rs2079112 4 105763065 [T/C] rs4698926 4 105781935 [A/G] rs6533163 4 105794260 [A/G] exm-rs10005603 4 105844273 [T/G] rs9637619 4 105845011 [A/G] rs4698929 4 105872720 [A/G] rs2291507 4 105890515 [A/G] rs1490583 4 105911182 [T/G] rs1873361 4 105925099 [T/C] rs4699145 4 105933321 [A/G] kgp820671 4 105933951 [A/G] rs13151168 4 105936370 [A/G] rs195149 4 105986597 [A/G] rs195148 4 105988057 [T/C] rs2079135 4 106005985 [A/G] rs764275 4 106016627 [T/G] rs17429675 4 106028073 [A/G] rs4698931 4 106034478 [A/G] rs17035270 4 106036545 [T/C] rs17035289 4 106048291 [T/C] rs1541374 4 106048360 [T/G] exm-rs7679673 4 106061534 [A/C] rs7679673 4 106061534 [A/C] rs17617028 4 106064683 [A/G] rs974801 4 106071064 [A/G] NM_017628,NM_001127208 TET2,TET2 Silent,Silent exm-rs9884482 4 106081636 [T/C] NM_017628,NM_001127208 TET2,TET2 Silent,Silent rs17035323 4 106091978 [A/G] NM_017628,NM_001127208 TET2,TET2 Silent,Silent exm-rs10010325 4 106106353 [A/C] NM_017628,NM_001127208 TET2,TET2 Silent,Silent rs17035325 4 106110796 [T/C] NM_017628,NM_001127208 TET2,TET2 Silent,Silent rs1015521 4 106115450 [T/G] NM_017628,NM_001127208 TET2,TET2 Silent,Silent rs7698522 4 106118756 [T/C] NM_017628,NM_001127208 TET2,TET2 Silent,Silent rs9637601 4 106125715 [A/G] NM_017628,NM_001127208 TET2,TET2 Silent,Silent rs6839705 4 106144735 [A/C] NM_017628,NM_001127208 TET2,TET2 Silent,Silent exm416888 4 106155121 [G/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_H8D,Missense_H8D exm416891 4 106155185 [G/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_P29R,Missense_P29R exm416893 4 106155199 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_L34F,Missense_L34F exm416904 4 106155533 [A/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_S145N,Missense_S145N exm416905 4 106155620 [A/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_P174H,Missense_P174H exm416906 4 106155673 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_Y192H,Missense_Y192H rs6843141 4 106155751 [A/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_V218M,Missense_V218M exm416909 4 106155751 [A/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_V218M,Missense_V218M indel.82246 4 106155761 [I/D] NM_017628,NM_001127208 TET2,TET2 EXON variant.82247 4 106156060 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Nonsense_Q321X,Nonsense_Q321X exm416927 4 106156163 [A/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_G355D,Missense_G355D exm416928 4 106156187 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_P363L,Missense_P363L variant.82250 4 106156687 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Nonsense_Q530X,Nonsense_Q530X exm2240273 4 106157138 [T/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_R680I,Missense_R680I exm416958 4 106157293 [C/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_P732A,Missense_P732A exm416961 4 106157398 [A/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_N767D,Missense_N767D indel.82251 4 106157505 [D/I] NM_017628,NM_001127208 TET2,TET2 EXON variant.82252 4 106157506 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Nonsense_Q803X,Nonsense_Q803X exm416967 4 106157528 [A/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_Q810R,Missense_Q810R exm2063195 4 106157539 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_R814C,Missense_R814C exm416968 4 106157540 [A/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_R814H,Missense_R814H variant.82253 4 106157653 [T/G] NM_017628,NM_001127208 TET2,TET2 EXON Nonsense_E852X,Nonsense_E852X exm416973 4 106157698 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_Y867H,Missense_Y867H newrs145844118 4 106157700 [T/G] NM_017628,NM_001127208 TET2,TET2 EXON Nonsense_Y867X,Nonsense_Y867X exm416975 4 106157703 [T/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_F868L,Missense_F868L var_4_106157755 4 106157755 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Nonsense_Q886X,Nonsense_Q886X variant.82256 4 106157761 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Nonsense_Q888X,Nonsense_Q888X exm2063198 4 106157768 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_S890L,Missense_S890L indel.82257 4 106157808 [D/I] NM_017628,NM_001127208 TET2,TET2 EXON exm416983 4 106157870 [A/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_H924R,Missense_H924R indel.82258 4 106158114 [D/I] NM_017628,NM_001127208 TET2,TET2 EXON variant.82259 4 106158157 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Nonsense_Q1020X,Nonsense_Q1020X exm2063201 4 106158215 [T/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_S1039L,Missense_S1039L exm417006 4 106158350 [A/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_Q1084P,Missense_Q1084P exm417010 4 106158526 [A/G] NM_017628,NM_001127208 TET2,TET2 EXON Missense_T1143A,Silent exm417012 4 106158545 [A/C] NM_017628,NM_001127208 TET2,TET2 EXON Missense_Y1149S,Silent exm2063205 4 106158550 [T/G] NM_017628,NM_001127208 TET2,TET2 EXON Nonsense_E1151X,Silent rs7670522 4 106160365 [A/C] NM_017628,NM_001127208 TET2,TET2 EXON Silent,Silent variant.82263 4 106164083 [A/G] NM_001127208 TET2 EXON Nonsense_W1198X variant.82265 4 106180931 [A/G] NM_001127208 TET2 Silent rs2726492 4 106195541 [T/C] NM_001127208 TET2 Silent variant.82266 4 106196213 [T/C] NM_001127208 TET2 EXON Nonsense_R1516X indel.82267 4 106196220 [D/I] NM_001127208 TET2 EXON variant.82268 4 106196726 [T/C] NM_001127208 TET2 EXON Nonsense_Q1687X exm417038 4 106196770 [A/G] NM_001127208 TET2 EXON Missense_M1701I exm417039 4 106196819 [T/G] NM_001127208 TET2 EXON Missense_V1718L exm417040 4 106196829 [T/G] NM_001127208 TET2 EXON Missense_L1721W exm417041 4 106196834 [T/C] NM_001127208 TET2 EXON Missense_P1723S exm417043 4 106196951 [A/G] NM_001127208 TET2 EXON Missense_I1762V rs2454206 4 106196951 [A/G] NM_001127208 TET2 EXON Missense_I1762V exm417045 4 106197000 [A/G] NM_001127208 TET2 EXON Missense_H1778R indel.82269 4 106197161 [D/I] NM_001127208 TET2 EXON variant.82270 4 106197167 [T/C] NM_001127208 TET2 EXON Nonsense_Q1834X rs6533185 4 106213874 [A/G] rs6827660 4 106239038 [T/C] rs2647259 4 106256521 [A/C] rs2726485 4 106263450 [T/G] rs2726486 4 106264681 [T/C] rs2647264 4 106268594 [A/G] rs2726496 4 106288827 [T/C] newrs151331559 4 106307725 [T/G] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Nonsense_S211X,Nonsense_S284X,Nonsense_S313X,Nonsense_S147X exm2063212 4 106307762 [A/G] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Missense_R199C,Missense_R272C,Missense_R301C,Missense_R135C rs2726528 4 106316427 [T/C] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 Silent,Silent,Silent,Silent exm417069 4 106317429 [G/C] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Missense_K180N,Missense_K253N,Missense_K282N,Missense_K116N exm417073 4 106320250 [A/C] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Missense_V141L,Missense_V214L,Missense_V243L,Missense_V77L exm417075 4 106320294 [A/G] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Missense_P126L,Missense_P199L,Missense_P228L,Missense_P62L rs2726516 4 106346206 [A/C] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 Silent,Silent,Silent,Silent rs753972 4 106353784 [A/G] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 Silent,Silent,Silent,Silent rs3898404 4 106356395 [T/C] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 Silent,Silent,Silent,Silent exm417085 4 106359121 [T/C] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Silent,Silent,Missense_E172K,Silent rs923587 4 106364129 [A/G] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 Silent,Silent,Silent,Silent rs7671891 4 106366687 [T/C] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 Silent,Silent,Silent,Silent exm417093 4 106367601 [A/C] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Silent,Missense_R127L,Missense_R127L,Silent exm417099 4 106370519 [A/C] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Silent,Missense_N103K,Missense_N103K,Silent exm417105 4 106374771 [T/C] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Silent,Missense_R84Q,Missense_R84Q,Silent rs12643660 4 106386760 [T/G] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 Silent,Silent,Silent,Silent rs2298733 4 106390734 [A/C] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 Silent,Silent,Silent,Silent rs2074396 4 106394380 [A/C] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 Silent,Silent,Silent,Silent exm417133 4 106395144 [T/C] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Missense_T22A,Missense_T22A,Missense_T22A,Missense_T22A exm417138 4 106395186 [C/G] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Missense_L8V,Missense_L8V,Missense_L8V,Missense_L8V exm2274040 4 106395202 [A/G] NM_176866,NM_006903,NM_176869,NM_176867 PPA2,PPA2,PPA2,PPA2 EXON Synonymous_S2S,Synonymous_S2S,Synonymous_S2S,Synonymous_S2S rs11097891 4 106408926 [T/C] rs9307305 4 106442518 [T/C] rs3864227 4 106447752 [T/C] rs4082504 4 106448900 [A/C] exm2264063 4 106448900 [A/C] rs12499086 4 106451311 [A/G] exm-rs7669317 4 106457330 [T/C] rs1388040 4 106459205 [A/G] rs11730243 4 106463713 [T/C] rs6858204 4 106467126 [T/C] rs3756258 4 106472259 [T/C] exm417144 4 106473983 [T/C] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Missense_F21L,Missense_F21L exm417146 4 106473991 [T/G] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Missense_R23S,Missense_R23S indel.82277 4 106474030 [I/D] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON exm417151 4 106474097 [T/G] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Nonsense_E59X,Nonsense_E59X rs2593305 4 106504490 [T/C] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 Silent,Silent rs199330 4 106504943 [T/C] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 Silent,Silent exm417154 4 106510452 [A/C] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Missense_P82T,Missense_P82T exm417155 4 106510470 [A/G] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Missense_M88V,Missense_M88V exm417157 4 106510543 [A/G] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Missense_D112G,Missense_D112G variant.82280 4 106510572 [T/C] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Nonsense_Q122X,Nonsense_Q122X exm417160 4 106510582 [G/C] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Missense_R125T,Missense_R125T var_4_106510593 4 106510593 [T/G] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 Silent,Silent rs715706 4 106516028 [T/C] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 Silent,Silent rs11721732 4 106521514 [A/G] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 Silent,Silent rs1374530 4 106523977 [T/C] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 Silent,Silent exm417168 4 106534599 [T/C] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Missense_S148L,Missense_S148L exm417176 4 106552118 [A/G] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Missense_H191R,Missense_H191R exm2256263 4 106552167 [T/G] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Synonymous_L207L,Synonymous_L207L rs2044536 4 106552414 [A/G] NM_001242729,NM_017700 ARHGEF38,ARHGEF38 EXON Silent,Silent rs4699193 4 106601989 [T/C] NM_001242729 ARHGEF38 EXON Silent kgp29393178 4 106603861 [A/G] NM_020395,NM_001142471 INTS12,INTS12 EXON Silent,Silent indel.82282 4 106604122 [D/I] NM_020395,NM_001142471 INTS12,INTS12 EXON exm417193 4 106604164 [A/C] NM_020395,NM_001142471 INTS12,INTS12 EXON Missense_G372V,Missense_G372V kgp8518547 4 106604190 [A/G] NM_020395,NM_001142471 INTS12,INTS12 EXON Synonymous_P363P,Synonymous_P363P rs10008158 4 106604223 [A/G] NM_020395,NM_001142471 INTS12,INTS12 EXON Synonymous_N352N,Synonymous_N352N kgp12472961 4 106604364 [A/G] NM_020395,NM_001142471 INTS12,INTS12 EXON Synonymous_P305P,Synonymous_P305P variant.82283 4 106613132 [T/C] NM_020395,NM_001142471 INTS12,INTS12 Silent,Silent kgp21306746 4 106613211 [C/G] NM_020395,NM_001142471 INTS12,INTS12 EXON Synonymous_P193P,Synonymous_P193P rs6820671 4 106613821 [A/G] NM_020395,NM_001142471 INTS12,INTS12 Silent,Silent variant.82284 4 106614451 [T/C] NM_020395,NM_001142471 INTS12,INTS12 Silent,Silent exm-rs11727189 4 106619140 [T/G] NM_020395,NM_001142471 INTS12,INTS12 Silent,Silent exm417228 4 106621042 [A/G] NM_020395,NM_001142471 INTS12,INTS12 EXON Missense_R41W,Missense_R41W kgp21312294 4 106621169 [T/C] NM_020395,NM_001142471 INTS12,INTS12 EXON Silent,Silent exm417233 4 106621170 [A/G] NM_020395,NM_001142471 INTS12,INTS12 EXON Silent,Silent kgp21222963 4 106621170 [A/G] NM_020395,NM_001142471 INTS12,INTS12 EXON Silent,Silent exm2269951 4 106625263 [T/G] NM_020395,NM_001142471 INTS12,INTS12 Silent,Silent kgp29486049 4 106629993 [A/G] NM_024751 GSTCD EXON Silent kgp1506779 4 106630030 [G/C] NM_024751 GSTCD EXON Silent exm417254 4 106640377 [A/G] NM_024751,NM_001031720 GSTCD,GSTCD EXON Missense_R109H,Missense_R196H kgp21323941 4 106640387 [A/G] NM_024751,NM_001031720 GSTCD,GSTCD EXON Synonymous_K112K,Synonymous_K199K exm417257 4 106640452 [T/G] NM_024751,NM_001031720 GSTCD,GSTCD EXON Missense_V134G,Missense_V221G exm417259 4 106640481 [T/G] NM_024751,NM_001031720 GSTCD,GSTCD EXON Missense_D144Y,Missense_D231Y exm417265 4 106640631 [T/C] NM_024751,NM_001031720 GSTCD,GSTCD EXON Missense_L194F,Missense_L281F rs10026561 4 106643403 [A/G] NM_024751,NM_001031720 GSTCD,GSTCD Silent,Silent variant.82286 4 106647795 [A/G] NM_024751,NM_001031720 GSTCD,GSTCD EXON Nonsense_W231X,Nonsense_W318X kgp2314468 4 106650631 [C/G] NM_024751,NM_001031720 GSTCD,GSTCD EXON Synonymous_L318L,Synonymous_L405L rs2544402 4 106687733 [A/G] NM_024751,NM_001031720 GSTCD,GSTCD Silent,Silent exm-rs10516526 4 106688904 [A/G] NM_024751,NM_001031720 GSTCD,GSTCD Silent,Silent rs2544426 4 106717797 [A/G] NM_024751,NM_001031720 GSTCD,GSTCD Silent,Silent rs17036254 4 106736355 [A/G] NM_024751,NM_001031720 GSTCD,GSTCD Silent,Silent exm417289 4 106746927 [A/G] NM_024751,NM_001031720 GSTCD,GSTCD EXON Missense_M413I,Missense_M500I exm417292 4 106755645 [A/G] NM_024751,NM_001031720 GSTCD,GSTCD EXON Missense_T433A,Missense_T520A rs10026373 4 106760931 [A/G] NM_024751,NM_001031720 GSTCD,GSTCD Silent,Silent rs2544412 4 106761837 [A/G] NM_024751,NM_001031720 GSTCD,GSTCD Silent,Silent variant.82288 4 106766630 [T/C] NM_024751,NM_001031720 GSTCD,GSTCD EXON Nonsense_R513X,Nonsense_R600X indel.82289 4 106766711 [I/D] NM_024751,NM_001031720 GSTCD,GSTCD EXON kgp2944612 4 106767226 [T/C] NM_024751,NM_001031720 GSTCD,GSTCD EXON Silent,Silent rs2553444 4 106767490 [T/C] NM_024751,NM_001031720 GSTCD,GSTCD EXON Silent,Silent kgp9456231 4 106767623 [T/C] NM_024751,NM_001031720 GSTCD,GSTCD EXON Silent,Silent rs17036337 4 106767741 [A/G] NM_024751,NM_001031720 GSTCD,GSTCD EXON Silent,Silent rs17036339 4 106767743 [T/G] NM_024751,NM_001031720 GSTCD,GSTCD EXON Silent,Silent kgp9376952 4 106768598 [T/G] NM_024751,NM_001031720 GSTCD,GSTCD EXON Silent,Silent rs2553453 4 106808172 [A/G] exm2275765 4 106819089 [G/C] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_L35V,Missense_L35V,Missense_L35V,Missense_L35V,Missense_L35V exm417317 4 106819144 [C/G] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_W53S,Missense_W53S,Missense_W53S,Missense_W53S,Missense_W53S rs6811135 4 106830232 [A/G] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT Silent,Silent,Silent,Silent,Silent exm417321 4 106848537 [A/G] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_N73D,Missense_N73D,Missense_N73D,Missense_N90D,Missense_N73D exm417331 4 106859520 [T/C] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_R180W,Missense_R150W,Missense_R150W,Missense_R167W,Missense_R180W exm417333 4 106859539 [T/C] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_P186L,Missense_P156L,Missense_P156L,Missense_P173L,Missense_P186L exm417335 4 106861246 [A/G] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_A204T,Missense_A174T,Missense_A174T,Missense_A191T,Missense_A204T var_4_106861669 4 106861669 [A/G] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT Silent,Silent,Silent,Silent,Silent rs4340795 4 106861730 [A/G] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_I264V,Missense_I234V,Missense_I234V,Missense_I251V,Missense_I264V exm417345 4 106861730 [A/G] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_I264V,Missense_I234V,Missense_I234V,Missense_I251V,Missense_I264V exm417347 4 106861763 [A/G] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_G275R,Missense_G245R,Missense_G245R,Missense_G262R,Missense_G275R exm417350 4 106863482 [T/C] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_I291T,Missense_I261T,Missense_I261T,Missense_I278T,Missense_I291T exm417351 4 106863506 [T/C] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_V299A,Missense_V269A,Missense_V269A,Missense_V286A,Missense_V299A exm417359 4 106863626 [A/G] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_R339K,Missense_R309K,Missense_R309K,Missense_R326K,Missense_R339K exm417362 4 106863655 [A/C] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_T349P,Missense_T319P,Missense_T319P,Missense_T336P,Missense_T349P exm417372 4 106863842 [T/C] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_P411L,Missense_P381L,Missense_P381L,Missense_P398L,Missense_P411L rs6855132 4 106877631 [A/G] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT Silent,Silent,Silent,Silent,Silent exm417379 4 106880251 [A/G] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_D468G,Missense_D409G,Missense_D438G,Missense_D455G,Missense_D439G rs4597836 4 106888263 [A/C] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT Silent,Silent,Silent,Silent,Silent exm417389 4 106888416 [A/G] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_G503S,Missense_G444S,Missense_G473S,Missense_G490S,Missense_G474S exm417391 4 106888426 [T/C] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_M506T,Missense_M447T,Missense_M476T,Missense_M493T,Missense_M477T exm417394 4 106888468 [T/C] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_T520M,Missense_T461M,Missense_T490M,Missense_T507M,Missense_T491M exm417400 4 106888545 [A/G] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_G546S,Missense_G487S,Missense_G516S,Missense_G533S,Missense_G517S exm417403 4 106888601 [T/C] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Synonymous_S564S,Synonymous_S505S,Synonymous_S534S,Synonymous_S551S,Synonymous_S535S exm2063332 4 106890077 [A/G] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_R573H,Missense_R514H,Missense_R543H,Missense_R560H,Missense_R544H exm417407 4 106890086 [A/C] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_T576N,Missense_T517N,Missense_T546N,Missense_T563N,Missense_T547N exm2063333 4 106890143 [A/G] NM_001184691,NM_001184692,NM_001033047,NM_001184690,NM_001184693 NPNT,NPNT,NPNT,NPNT,NPNT EXON Missense_R595H,Missense_R536H,Missense_R565H,Missense_R582H,Missense_R566H rs4345186 4 106915834 [A/G] exm2265740 4 106922960 [A/G] rs994370 4 106923626 [T/C] rs17199327 4 106926748 [A/C] rs6842919 4 106958170 [A/G] rs17036535 4 106964945 [A/C] rs7683106 4 106970272 [A/C] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK Silent,Silent,Silent,Silent rs17036551 4 106970976 [A/C] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK Silent,Silent,Silent,Silent rs2212969 4 106979479 [T/C] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK Silent,Silent,Silent,Silent exm417417 4 107016742 [A/G] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_T823I,Missense_T823I,Missense_T784I,Missense_T760I exm2256265 4 107016789 [A/G] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Synonymous_R807R,Synonymous_R807R,Synonymous_R768R,Synonymous_R744R rs17272618 4 107022503 [T/C] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK Silent,Silent,Silent,Silent indel.82296 4 107037519 [D/I] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON kgp1337518 4 107038096 [A/G] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK Silent,Silent,Silent,Silent 1KG_4_107092300 4 107092300 [D/I] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON exm417430 4 107092341 [A/G] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_P716S,Missense_P716S,Missense_P677S,Missense_P653S variant.82298 4 107115874 [A/C] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK Silent,Silent,Silent,Silent indel.82299 4 107115894 [D/I] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON rs13101612 4 107128360 [A/G] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK Silent,Silent,Silent,Silent exm2274041 4 107154188 [T/C] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_D516N,Missense_D516N,Missense_D477N,Missense_D453N exm417472 4 107154749 [T/C] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_R503K,Missense_R503K,Missense_R464K,Missense_R440K exm2274042 4 107154790 [C/G] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_K489N,Missense_K489N,Missense_K450N,Missense_K426N exm417477 4 107156462 [T/C] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_M471I,Missense_M471I,Missense_M432I,Missense_M408I exm417487 4 107157623 [A/G] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_T425M,Missense_T425M,Missense_T386M,Missense_T362M exm417489 4 107157935 [A/G] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_Y401H,Missense_Y401H,Missense_Y362H,Missense_Y338H exm417490 4 107163647 [A/G] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_S384P,Missense_S384P,Missense_S345P,Missense_S321P exm417492 4 107163667 [A/T] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_D377V,Missense_D377V,Missense_D338V,Missense_D314V exm417497 4 107165912 [T/C] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_N314S,Missense_N314S,Missense_N275S,Missense_N251S exm417498 4 107165918 [A/G] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_I312T,Missense_I312T,Missense_I273T,Missense_I249T exm417499 4 107165919 [T/C] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_I312V,Missense_I312V,Missense_I273V,Missense_I249V exm417503 4 107168372 [T/G] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_K285N,Missense_K285N,Missense_K246N,Missense_K222N exm417505 4 107168431 [C/G] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_Q266E,Missense_Q266E,Missense_Q227E,Missense_Q203E newrs138202267 4 107170078 [T/C] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Synonymous_K240K,Synonymous_K240K,Synonymous_K201K,Synonymous_K177K rs13106209 4 107171131 [A/G] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK Silent,Silent,Silent,Silent exm417514 4 107171575 [T/C] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_D220N,Missense_D220N,Missense_D181N,Missense_D157N rs12641015 4 107172182 [T/C] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK Silent,Silent,Silent,Silent exm417525 4 107181616 [T/C] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_D145N,Missense_D145N,Missense_D145N,Silent exm417527 4 107216291 [A/G] NM_001163435,NM_001163436,NM_001163437,NM_033115 TBCK,TBCK,TBCK,TBCK EXON Missense_R76C,Missense_R76C,Missense_R76C,Missense_R76C rs3737498 4 107246136 [A/C] NM_001142415,NM_004757,NM_001142416 AIMP1,AIMP1,AIMP1 Silent,Silent,Silent var_4_107248643 4 107248643 [T/C] NM_001142415,NM_004757,NM_001142416 AIMP1,AIMP1,AIMP1 EXON Nonsense_R49X,Nonsense_R49X,Nonsense_R73X exm417546 4 107249244 [C/G] NM_001142415,NM_004757,NM_001142416 AIMP1,AIMP1,AIMP1 EXON Missense_P79A,Missense_P79A,Missense_P103A exm417552 4 107249319 [A/G] NM_001142415,NM_004757,NM_001142416 AIMP1,AIMP1,AIMP1 EXON Missense_T104A,Missense_T104A,Missense_T128A exm417553 4 107249332 [G/C] NM_001142415,NM_004757,NM_001142416 AIMP1,AIMP1,AIMP1 EXON Missense_G108A,Missense_G108A,Missense_G132A exm417554 4 107249358 [A/G] NM_001142415,NM_004757,NM_001142416 AIMP1,AIMP1,AIMP1 EXON Missense_T117A,Missense_T117A,Missense_T141A exm417556 4 107249372 [C/G] NM_001142415,NM_004757,NM_001142416 AIMP1,AIMP1,AIMP1 EXON Missense_K121N,Missense_K121N,Missense_K145N 1KG_4_107252859 4 107252859 [D/I] NM_001142415,NM_004757,NM_001142416 AIMP1,AIMP1,AIMP1 EXON exm417563 4 107252981 [A/G] NM_001142415,NM_004757,NM_001142416 AIMP1,AIMP1,AIMP1 EXON Missense_G182R,Missense_G182R,Missense_G206R exm417566 4 107253029 [T/C] NM_001142415,NM_004757,NM_001142416 AIMP1,AIMP1,AIMP1 EXON Missense_P198S,Missense_P198S,Missense_P222S exm417586 4 107279386 [A/G] NM_001195138 GIMD1 EXON Missense_M203T exm417587 4 107279450 [T/C] NM_001195138 GIMD1 EXON Missense_V182I exm417588 4 107279482 [A/T] NM_001195138 GIMD1 EXON Missense_K171I rs3018058 4 107281920 [A/G] NM_001195138 GIMD1 Silent rs3018059 4 107282566 [A/G] NM_001195138 GIMD1 Silent exm2240286 4 107288414 [T/C] NM_001195138 GIMD1 EXON Missense_R60H rs2949646 4 107288449 [A/G] NM_001195138 GIMD1 EXON Synonymous_S48S rs3018066 4 107289526 [A/G] rs2949619 4 107302260 [A/G] rs2949641 4 107310444 [A/G] rs4340862 4 107318580 [T/C] rs3018056 4 107329974 [T/C] rs940617 4 107353688 [A/G] rs6820792 4 107363636 [A/G] exm2265861 4 107363636 [A/G] rs10516535 4 107394976 [T/C] exm2256266 4 107418496 [A/G] rs13148020 4 107423164 [A/C] rs1522221 4 107427351 [T/C] rs1522218 4 107431789 [A/G] rs7690115 4 107448046 [T/C] rs7672970 4 107470497 [A/G] rs10008290 4 107499928 [A/G] rs1522215 4 107517238 [A/G] rs2648037 4 107520859 [T/G] rs2686311 4 107526541 [A/G] rs2686305 4 107533620 [T/C] rs1023792 4 107537390 [A/G] rs4340861 4 107547518 [T/C] rs2686297 4 107549400 [T/C] rs2042604 4 107550582 [A/G] kgp4332823 4 107554458 [A/C] rs12646341 4 107613144 [T/C] rs9784417 4 107625430 [A/G] rs10516537 4 107628071 [A/C] rs1443893 4 107637162 [T/G] rs12508455 4 107685776 [T/G] rs13125118 4 107686165 [A/G] rs1425257 4 107690286 [A/C] rs11943338 4 107769255 [A/G] rs10014676 4 107773179 [A/G] kgp8163145 4 107781852 [A/C] rs450533 4 107830261 [T/C] exm2240288 4 107842959 [T/C] NM_014421 DKK2 EXON Silent rs10488898 4 107843493 [A/G] NM_014421 DKK2 EXON Silent rs419558 4 107844092 [T/C] NM_014421 DKK2 EXON Silent exm417595 4 107845191 [T/C] NM_014421 DKK2 EXON Missense_A234T exm417601 4 107845749 [T/C] NM_014421 DKK2 EXON Missense_G161E exm417604 4 107845782 [T/C] NM_014421 DKK2 EXON Missense_R150Q exm417605 4 107845794 [T/C] NM_014421 DKK2 EXON Missense_R146Q exm417609 4 107845819 [A/G] NM_014421 DKK2 EXON Missense_H138Y exm417612 4 107846967 [T/C] NM_014421 DKK2 EXON Missense_R121H exm417617 4 107847043 [G/C] NM_014421 DKK2 EXON Missense_G96R rs433201 4 107851275 [A/G] NM_014421 DKK2 Silent rs10488899 4 107864811 [T/G] NM_014421 DKK2 Silent rs2051756 4 107903545 [T/C] NM_014421 DKK2 Silent rs4956275 4 107946161 [T/C] NM_014421 DKK2 Silent exm417622 4 107956663 [A/C] NM_014421 DKK2 EXON Missense_G29V exm417626 4 107956729 [T/C] NM_014421 DKK2 EXON Missense_S7N rs2704335 4 107958376 [T/G] rs383567 4 107961767 [A/G] rs7685856 4 107970647 [T/C] rs419783 4 107976020 [T/C] rs2704324 4 107984723 [A/C] rs386499 4 107993687 [T/C] rs378405 4 108000247 [A/C] rs6849760 4 108007908 [A/G] rs403608 4 108015733 [A/G] rs81299 4 108017272 [A/C] rs382525 4 108018123 [T/C] rs435887 4 108020599 [A/G] rs17510289 4 108035955 [T/C] rs17510449 4 108048311 [A/G] rs2158182 4 108048977 [A/C] rs718820 4 108051500 [T/C] rs2522457 4 108052407 [T/C] rs28513708 4 108071458 [A/C] rs7694364 4 108084614 [T/C] rs17037473 4 108094650 [A/G] rs995773 4 108106754 [A/G] rs950252 4 108109894 [A/G] rs17483781 4 108115022 [T/C] exm-rs10516541 4 108115222 [A/G] rs1027253 4 108117467 [A/G] rs17549820 4 108118301 [T/C] rs2029635 4 108119422 [A/G] rs4403120 4 108120442 [A/G] exm2256268 4 108120442 [A/G] rs17037525 4 108120955 [T/C] rs6827724 4 108135377 [A/G] exm2269952 4 108148408 [T/C] rs959482 4 108148408 [T/C] rs11722765 4 108167905 [T/C] rs1038854 4 108189246 [A/G] rs11946611 4 108206062 [T/C] rs1056079 4 108222771 [A/C] rs6533295 4 108231167 [T/C] rs717435 4 108233063 [T/C] rs203734 4 108237682 [A/C] rs1502773 4 108266027 [A/G] rs17218497 4 108284661 [T/C] rs203721 4 108296579 [A/G] rs6847720 4 108312043 [T/C] rs1502768 4 108316493 [T/G] rs203221 4 108324658 [A/G] rs203227 4 108327835 [A/G] rs203202 4 108329618 [A/G] rs11722979 4 108381600 [A/C] rs2214389 4 108387300 [T/G] rs10005025 4 108392974 [T/C] rs17501731 4 108396913 [A/C] rs1399403 4 108419815 [T/G] rs2672469 4 108462490 [T/C] rs1514728 4 108474586 [T/G] rs2726692 4 108493334 [A/G] rs10516545 4 108493705 [A/G] rs932100 4 108506584 [A/G] rs10010106 4 108525128 [A/G] rs1514730 4 108530885 [T/C] rs2726180 4 108534358 [T/G] rs9569 4 108535335 [T/C] NM_005443 PAPSS1 EXON Silent indel.82305 4 108535468 [D/I] NM_005443 PAPSS1 EXON variant.82306 4 108535494 [A/G] NM_005443 PAPSS1 EXON Nonsense_R596X exm417642 4 108552848 [A/G] NM_005443 PAPSS1 EXON Missense_P559S exm417643 4 108552883 [A/G] NM_005443 PAPSS1 EXON Missense_T547M exm417645 4 108552932 [C/G] NM_005443 PAPSS1 EXON Missense_E531Q exm417658 4 108566131 [A/G] NM_005443 PAPSS1 EXON Missense_R445W rs2726655 4 108572567 [T/C] NM_005443 PAPSS1 Silent exm417665 4 108574710 [T/C] NM_005443 PAPSS1 EXON Missense_G392S variant.82307 4 108574728 [A/G] NM_005443 PAPSS1 EXON Nonsense_R386X exm417672 4 108575955 [A/G] NM_005443 PAPSS1 EXON Missense_R333C rs3733633 4 108575989 [A/G] NM_005443 PAPSS1 EXON Synonymous_D321D exm417681 4 108581146 [T/G] NM_005443 PAPSS1 EXON Missense_A251E exm2256270 4 108581223 [A/G] NM_005443 PAPSS1 EXON Synonymous_I225I rs1476086 4 108593062 [A/G] NM_005443 PAPSS1 Silent variant.82308 4 108603171 [T/C] NM_005443 PAPSS1 EXON Synonymous_R223R indel.82309 4 108608251 [D/I] NM_005443 PAPSS1 EXON exm417694 4 108608257 [T/C] NM_005443 PAPSS1 EXON Missense_H163R rs2522422 4 108611941 [A/G] NM_005443 PAPSS1 Silent exm417699 4 108615007 [A/G] NM_005443 PAPSS1 EXON Nonsense_R111X rs2522425 4 108618232 [T/C] NM_005443 PAPSS1 Silent exm2269953 4 108621483 [T/C] NM_005443 PAPSS1 Silent variant.82311 4 108622322 [A/C] NM_005443 PAPSS1 Silent rs13110240 4 108622475 [T/C] NM_005443 PAPSS1 Silent rs2726207 4 108639491 [A/C] NM_005443 PAPSS1 Silent rs973126 4 108641300 [T/C] NM_005443 PAPSS1 EXON Synonymous_K12K rs4585383 4 108681819 [A/G] rs10027815 4 108691131 [A/G] rs10008418 4 108732508 [A/G] rs1389167 4 108758579 [A/C] NM_001136258 SGMS2 Silent rs1493125 4 108762203 [A/G] NM_001136258 SGMS2 Silent rs10516546 4 108784514 [A/G] NM_001136258 SGMS2 Silent rs975219 4 108794544 [A/G] NM_001136258 SGMS2 Silent rs17563270 4 108797741 [A/G] NM_001136258 SGMS2 Silent exm417721 4 108816771 [T/C] NM_001136258,NM_001136257,NM_152621 SGMS2,SGMS2,SGMS2 EXON Missense_T21M,Missense_T21M,Missense_T21M exm417723 4 108816870 [A/G] NM_001136258,NM_001136257,NM_152621 SGMS2,SGMS2,SGMS2 EXON Missense_K54R,Missense_K54R,Missense_K54R indel.82312 4 108824468 [I/D] NM_001136258,NM_001136257,NM_152621 SGMS2,SGMS2,SGMS2 EXON var_4_108824529 4 108824529 [I/D] NM_001136258,NM_001136257,NM_152621 SGMS2,SGMS2,SGMS2 EXON exm2063453 4 108824530 [T/C] NM_001136258,NM_001136257,NM_152621 SGMS2,SGMS2,SGMS2 EXON Missense_F239L,Missense_F239L,Missense_F239L rs13144835 4 108829343 [T/C] NM_001136258,NM_001136257,NM_152621 SGMS2,SGMS2,SGMS2 Silent,Silent,Silent exm417737 4 108829730 [A/G] NM_001136258,NM_001136257,NM_152621 SGMS2,SGMS2,SGMS2 EXON Missense_R246H,Missense_R246H,Missense_R246H newrs144629998 4 108829740 [A/G] NM_001136258,NM_001136257,NM_152621 SGMS2,SGMS2,SGMS2 EXON Nonsense_W249X,Nonsense_W249X,Nonsense_W249X newrs143395172 4 108829849 [T/C] NM_001136258,NM_001136257,NM_152621 SGMS2,SGMS2,SGMS2 EXON Nonsense_R286X,Nonsense_R286X,Nonsense_R286X exm417744 4 108829880 [A/G] NM_001136258,NM_001136257,NM_152621 SGMS2,SGMS2,SGMS2 EXON Missense_N296S,Missense_N296S,Missense_N296S rs13103176 4 108834529 [T/G] NM_001136258,NM_001136257,NM_152621 SGMS2,SGMS2,SGMS2 EXON Silent,Silent,Silent rs4956029 4 108851574 [T/C] exm417763 4 108853107 [T/C] NM_183075 CYP2U1 EXON Missense_P103L rs6533327 4 108861140 [A/G] NM_183075 CYP2U1 Silent exm417771 4 108866306 [T/C] NM_183075 CYP2U1 EXON Missense_I224T exm417776 4 108866384 [A/C] NM_183075 CYP2U1 EXON Missense_K250T exm417785 4 108866627 [A/G] NM_183075 CYP2U1 EXON Missense_N331S exm2063463 4 108866639 [C/G] NM_183075 CYP2U1 EXON Missense_S335T exm417789 4 108868537 [A/G] NM_183075 CYP2U1 EXON Missense_V378I exm417791 4 108868556 [T/G] NM_183075 CYP2U1 EXON Missense_R384I exm417803 4 108870614 [A/G] NM_183075 CYP2U1 EXON Missense_R466Q rs3756271 4 108874039 [A/C] NM_183075 CYP2U1 EXON Silent rs221330 4 108921367 [A/G] NM_005327,NM_001184705 HADH,HADH Silent,Silent exm417827 4 108931039 [T/C] NM_005327,NM_001184705 HADH,HADH EXON Missense_L86P,Missense_L86P newrs138521550 4 108935585 [A/G] NM_005327,NM_001184705 HADH,HADH Silent,Silent exm417832 4 108935600 [T/G] NM_005327,NM_001184705 HADH,HADH EXON Missense_F92C,Missense_F92C exm417840 4 108940732 [T/G] NM_005327,NM_001184705 HADH,HADH EXON Missense_Q152H,Missense_Q152H rs4245924 4 108946378 [T/C] NM_005327,NM_001184705 HADH,HADH Silent,Silent exm417845 4 108948850 [A/C] NM_005327,NM_001184705 HADH,HADH EXON Missense_P215T,Missense_P215T exm417846 4 108948869 [A/G] NM_005327,NM_001184705 HADH,HADH EXON Missense_R221H,Missense_R221H exm417847 4 108948883 [T/C] NM_005327,NM_001184705 HADH,HADH EXON Missense_Y226H,Missense_Y226H variant.82318 4 108948913 [T/C] NM_005327,NM_001184705 HADH,HADH EXON Nonsense_R236X,Nonsense_R236X exm417849 4 108953487 [C/G] NM_005327,NM_001184705 HADH,HADH EXON Silent,Missense_F238L exm417850 4 108953492 [T/C] NM_005327,NM_001184705 HADH,HADH EXON Silent,Missense_T240M var_4_108955394 4 108955394 [T/G] NM_005327,NM_001184705 HADH,HADH Silent,Silent exm417858 4 108955449 [A/G] NM_005327,NM_001184705 HADH,HADH EXON Missense_N294S,Missense_N311S rs6831530 4 108956423 [T/G] rs4956035 4 108960709 [A/G] exm417861 4 108969836 [T/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Silent,Silent,Missense_A385T,Silent exm417863 4 108969883 [A/G] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Silent,Silent,Missense_T369M,Silent exm417864 4 108969898 [T/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Silent,Silent,Missense_R364Q,Silent rs6826687 4 108980772 [A/G] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 Silent,Silent,Silent,Silent exm417867 4 108984819 [T/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_G361D,Missense_G293D,Silent,Missense_G389D variant.82323 4 108985487 [T/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 Silent,Silent,Silent,Silent rs4956157 4 108999366 [A/G] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 Silent,Silent,Silent,Silent exm417884 4 109000649 [T/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_V254M,Missense_V186M,Missense_V254M,Missense_V282M rs3796999 4 109003752 [T/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 Silent,Silent,Silent,Silent exm417892 4 109004600 [T/G] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_M184L,Missense_M116L,Missense_M184L,Missense_M184L rs4547871 4 109009087 [A/G] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 Silent,Silent,Silent,Silent exm417897 4 109010339 [A/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_E163D,Missense_E95D,Missense_E163D,Missense_E163D exm417899 4 109010395 [A/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_V145L,Missense_V77L,Missense_V145L,Missense_V145L rs898518 4 109016824 [A/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 Silent,Silent,Silent,Silent rs10022956 4 109033979 [T/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 Silent,Silent,Silent,Silent rs10516550 4 109035828 [T/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 Silent,Silent,Silent,Silent rs10516551 4 109035985 [T/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 Silent,Silent,Silent,Silent rs956237 4 109046960 [A/G] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 Silent,Silent,Silent,Silent exm2269816 4 109066366 [T/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 Silent,Silent,Silent,Silent rs922163 4 109066366 [T/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 Silent,Silent,Silent,Silent rs17038678 4 109074499 [T/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 Silent,Silent,Silent,Silent exm417903 4 109084731 [A/G] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_P136L,Missense_P68L,Missense_P136L,Missense_P136L exm2063528 4 109084821 [A/G] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_P106L,Missense_P38L,Missense_P106L,Missense_P106L exm417910 4 109086254 [A/G] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Synonymous_D93D,Synonymous_D25D,Synonymous_D93D,Synonymous_D93D exm417912 4 109086280 [T/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Missense_D85N,Missense_D17N,Missense_D85N,Missense_D85N exm2240300 4 109087430 [T/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Silent,Missense_E3K,Silent,Silent exm417915 4 109087433 [A/C] NM_001130713,NM_001166119,NM_001130714,NM_016269 LEF1,LEF1,LEF1,LEF1 EXON Silent,Missense_A2S,Silent,Silent exm417917 4 109088713 [C/G] NM_001130713,NM_001130714,NM_016269,NR_029374 LEF1,LEF1,LEF1,LEF1-AS1 EXON Missense_E71Q,Missense_E71Q,Missense_E71Q,Silent rs2343115 4 109111726 [A/C] rs4956042 4 109142299 [A/C] rs12501237 4 109143439 [A/G] rs11097974 4 109163035 [T/C] rs1003169 4 109176161 [A/G] rs7665502 4 109180551 [A/G] rs11934029 4 109182392 [T/G] rs3901937 4 109192876 [A/G] rs11725852 4 109196994 [T/C] rs220601 4 109202036 [A/C] rs1473555 4 109218677 [A/G] rs1393825 4 109231090 [T/C] rs220633 4 109235102 [A/C] rs220620 4 109242752 [A/G] rs220623 4 109243057 [T/C] rs17038822 4 109254423 [T/C] rs12108639 4 109264055 [A/G] rs11940782 4 109272140 [A/G] rs917413 4 109275454 [T/G] rs10489025 4 109282683 [A/C] rs219457 4 109292368 [T/C] rs11097983 4 109295549 [T/C] rs188721 4 109296917 [T/C] rs737605 4 109298935 [A/G] rs1452397 4 109305397 [A/G] rs219472 4 109311641 [A/G] rs219451 4 109322782 [A/G] rs6811130 4 109340406 [T/C] rs219481 4 109340680 [T/C] rs1377065 4 109349464 [A/G] rs219500 4 109362923 [A/G] rs1452401 4 109374717 [A/G] rs719786 4 109396732 [A/G] rs1562975 4 109408608 [A/G] exm-rs1562975 4 109408608 [A/G] rs6838036 4 109411079 [A/C] rs12508024 4 109413413 [A/G] rs4996943 4 109439995 [A/G] rs11737760 4 109441230 [A/G] rs17583662 4 109461985 [A/G] NR_026968 RPL34-AS1 Silent rs7688462 4 109465726 [T/C] NR_026968 RPL34-AS1 Silent rs7686569 4 109477779 [T/G] NR_026968 RPL34-AS1 EXON Silent rs11734670 4 109486382 [T/C] NR_026968 RPL34-AS1 Silent rs17800095 4 109493253 [A/G] NR_026968 RPL34-AS1 Silent rs12646462 4 109517946 [A/C] NR_026968 RPL34-AS1 Silent rs17584310 4 109529238 [T/C] NR_026968 RPL34-AS1 Silent rs7691236 4 109536616 [A/C] NR_026968 RPL34-AS1 Silent exm417931 4 109543360 [T/G] NM_000995,NM_033625 RPL34,RPL34 EXON Synonymous_G55G,Synonymous_G55G rs2880787 4 109553331 [A/G] indel.82327 4 109578781 [D/I] NM_001267817,NM_001267818,NM_021227 OSTC,OSTC,OSTC EXON variant.82328 4 109578804 [A/G] NM_001267817,NM_001267818,NM_021227 OSTC,OSTC,OSTC Silent,Silent,Silent rs2575632 4 109586178 [T/C] NM_001267817,NM_001267818,NM_021227 OSTC,OSTC,OSTC Silent,Silent,Silent exm417959 4 109588403 [A/G] NM_001267817,NM_001267818,NM_021227 OSTC,OSTC,OSTC EXON Synonymous_R78R,Missense_G169E,Synonymous_P144P rs6852328 4 109613948 [T/C] rs2077246 4 109621884 [A/G] exm2269954 4 109636348 [T/C] exm417963 4 109663672 [A/G] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_H518Y,Missense_H490Y,Silent,Missense_H484Y,Silent exm417968 4 109663758 [T/G] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_E489A,Missense_E461A,Silent,Missense_E455A,Silent variant.82329 4 109664944 [T/C] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 Silent,Silent,Silent,Silent,Silent exm417974 4 109667585 [T/C] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_M453V,Missense_M425V,Silent,Missense_M419V,Silent newrs146606272 4 109667672 [A/G] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Nonsense_R424X,Nonsense_R396X,Silent,Nonsense_R390X,Silent exm417980 4 109667686 [T/C] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 Silent,Silent,Silent,Silent,Silent exm417981 4 109667954 [A/G] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_T407I,Missense_T379I,Silent,Missense_T373I,Silent indel.82333 4 109669195 [I/D] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON variant.82334 4 109670394 [T/C] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Synonymous_T337T,Synonymous_T309T,Silent,Synonymous_T303T,Silent exm417990 4 109670434 [C/G] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_A324G,Missense_A296G,Silent,Missense_A290G,Silent exm417998 4 109670609 [T/C] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_G266S,Missense_G238S,Silent,Missense_G232S,Silent exm418008 4 109674116 [A/G] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_S213P,Missense_S185P,Silent,Missense_S179P,Silent rs1377210 4 109674116 [A/G] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_S213P,Missense_S185P,Silent,Missense_S179P,Silent exm418013 4 109675843 [A/G] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_S173F,Missense_S145F,Silent,Missense_S139F,Silent indel.82335 4 109675855 [D/I] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON exm418014 4 109677604 [T/C] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Missense_R155K,Missense_R127K,Silent,Missense_R121K,Silent indel.82336 4 109680921 [I/D] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON variant.82337 4 109680985 [A/G] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Synonymous_H113H,Synonymous_H85H,Silent,Synonymous_H79H,Silent var_4_109680996 4 109680996 [A/G] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Nonsense_R110X,Nonsense_R82X,Silent,Nonsense_R76X,Silent var_4_109681377 4 109681377 [A/G] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Silent,Nonsense_Q48X,Silent,Nonsense_Q48X,Silent exm418027 4 109681461 [T/G] NM_001146627,NM_031279,NR_027475,NM_001146590,NR_027474 AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1,AGXT2L1 EXON Silent,Missense_P20T,Silent,Missense_P20T,Silent rs12108563 4 109684830 [T/C] rs6814067 4 109704907 [T/G] rs11732844 4 109707993 [A/G] rs1840063 4 109711994 [T/C] rs17039317 4 109714131 [A/C] rs7692671 4 109714155 [A/G] rs9631731 4 109722566 [T/C] exm-rs4956211 4 109723126 [A/G] rs10011045 4 109724292 [T/C] rs1812590 4 109730810 [A/G] rs2305437 4 109734959 [A/G] NR_045756,NM_198721 COL25A1,COL25A1 EXON Silent,Silent newrs190975073 4 109740403 [T/C] NR_045756,NM_198721 COL25A1,COL25A1 Silent,Silent exm418041 4 109745254 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Silent,Missense_S644P,Missense_S641P rs1452689 4 109750774 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent variant.82342 4 109753531 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent exm2269817 4 109754899 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs4956063 4 109759469 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent exm418054 4 109762862 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Missense_P549S,Missense_P522S,Missense_P549S variant.82345 4 109767290 [A/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent variant.82346 4 109767295 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Synonymous_P505P,Synonymous_P478P,Synonymous_P505P exm418061 4 109767296 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Missense_P505L,Missense_P478L,Missense_P505L rs1563005 4 109767869 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs2198329 4 109774351 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent exm418071 4 109780843 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Missense_D430G,Missense_D411G,Missense_D430G variant.82347 4 109782082 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent exm418083 4 109790290 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Missense_I346T,Missense_I342T,Missense_I346T rs7686077 4 109803577 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent variant.82348 4 109805332 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs884049 4 109805696 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent exm418089 4 109810400 [C/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Missense_E318Q,Missense_E314Q,Missense_E318Q rs12643975 4 109822990 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs1526131 4 109834239 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent variant.82350 4 109841732 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs17596705 4 109841743 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Synonymous_P242P,Synonymous_P238P,Synonymous_P242P rs13104889 4 109843603 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent exm418102 4 109858976 [T/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Missense_E232D,Missense_E228D,Missense_E232D rs2881015 4 109870169 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs6853519 4 109880276 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent variant.82352 4 109895550 [A/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs3863124 4 109898914 [A/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs11098020 4 109903445 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs10516554 4 109922064 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs4547872 4 109926806 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs1405160 4 109931951 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs2081466 4 109938078 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs794144 4 109953266 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs12648799 4 109957769 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent exm418129 4 109971282 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs1863293 4 109975633 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs3113687 4 109987381 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs1991219 4 110000675 [T/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs17039766 4 110006432 [A/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs4632736 4 110017206 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs4368681 4 110030410 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs7679372 4 110034004 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs3113727 4 110037163 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs11947505 4 110048604 [T/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs17039902 4 110052853 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs17039993 4 110077899 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs13149803 4 110099651 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs2704102 4 110103485 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs2189708 4 110122500 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs10049987 4 110132858 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs2007788 4 110136612 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs4956253 4 110153951 [T/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs12640304 4 110155157 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs17040162 4 110158446 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs7692025 4 110168834 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs7675657 4 110178174 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent exm2269818 4 110185039 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs4512071 4 110189698 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs917022 4 110200344 [T/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs2346029 4 110207927 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent rs6822076 4 110220384 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 Silent,Silent,Silent,Silent exm418144 4 110223025 [A/G] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Missense_Y51H,Missense_Y51H,Missense_Y51H exm418145 4 110223046 [T/C] NR_045756,NM_198721,NM_001256074,NM_032518 COL25A1,COL25A1,COL25A1,COL25A1 EXON Silent,Missense_V44M,Missense_V44M,Missense_V44M rs13128445 4 110228717 [A/G] rs10005272 4 110250481 [T/G] rs11935942 4 110254092 [T/C] rs1557804 4 110278816 [A/G] rs6854151 4 110299443 [A/G] rs11098033 4 110324528 [T/C] rs11098035 4 110350409 [T/C] rs17040436 4 110365426 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B Silent,Silent exm2269955 4 110370867 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B Silent,Silent rs1396709 4 110378688 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B Silent,Silent exm2063645 4 110384078 [A/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_Q52P,Missense_Q52P exm418165 4 110384497 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_A192T,Missense_A192T exm418169 4 110384522 [G/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_S200C,Missense_S200C exm418172 4 110384603 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_F227S,Missense_F227S exm418173 4 110384624 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_I234T,Missense_I234T exm418180 4 110384735 [A/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_Q271P,Missense_Q271P rs9985632 4 110388034 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B Silent,Silent exm418184 4 110394162 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_A294T,Missense_A294T exm418191 4 110394261 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_T327A,Missense_T327A rs10516556 4 110395146 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B Silent,Silent rs6856291 4 110409978 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B Silent,Silent exm418206 4 110415840 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_P404L,Missense_P439L exm418208 4 110415869 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_V414I,Missense_V449I exm418213 4 110415926 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_P433S,Missense_P468S exm418214 4 110415975 [G/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_S449T,Missense_S484T variant.82353 4 110416012 [A/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_Q461H,Missense_Q496H exm418235 4 110434993 [T/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_I630S,Missense_I665S exm418237 4 110437762 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_I663V,Missense_I698V exm418240 4 110441587 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_N696S,Missense_N731S exm418241 4 110441604 [T/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_S702A,Missense_S737A exm418255 4 110446016 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_L816F,Missense_L851F rs6812906 4 110446454 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B Silent,Silent exm418261 4 110447390 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_M899V,Missense_M934V exm418266 4 110448537 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_V974I,Missense_V1009I exm418271 4 110451520 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_S1016F,Missense_S1051F exm418272 4 110451525 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_Y1018H,Missense_Y1053H exm418277 4 110452542 [A/T] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_K1050I,Missense_K1085I indel.82355 4 110453841 [I/D] NM_001042734,NM_006323 SEC24B,SEC24B EXON exm418281 4 110453853 [T/C] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_A1115V,Missense_A1150V rs10003981 4 110454306 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B Silent,Silent exm418290 4 110459736 [A/G] NM_001042734,NM_006323 SEC24B,SEC24B EXON Missense_I1191V,Missense_I1226V rs17040519 4 110466758 [A/C] rs6831048 4 110491665 [A/C] NM_017918 CCDC109B Silent rs7694402 4 110510080 [A/G] NM_017918 CCDC109B Silent rs197212 4 110523044 [A/G] NM_017918 CCDC109B Silent rs17440077 4 110537567 [A/G] NM_017918 CCDC109B Silent rs6533438 4 110538429 [A/G] NM_017918 CCDC109B Silent rs7687878 4 110539442 [A/G] NM_017918 CCDC109B Silent rs6832174 4 110544696 [T/C] NM_017918 CCDC109B Silent rs7677585 4 110546567 [T/G] NM_017918 CCDC109B Silent rs11938222 4 110555678 [A/G] NM_017918 CCDC109B Silent rs4698773 4 110562936 [A/C] NM_017918 CCDC109B Silent rs10032323 4 110567473 [A/G] NM_017918 CCDC109B Silent rs13128388 4 110568156 [T/C] NM_017918 CCDC109B Silent exm418297 4 110581363 [T/A] NM_017918 CCDC109B EXON Missense_I63N exm2063694 4 110581399 [T/C] NM_017918 CCDC109B EXON Missense_L75S exm418301 4 110581470 [A/G] NM_017918 CCDC109B EXON Missense_D99N exm-rs4698775 4 110590479 [T/G] NM_017918 CCDC109B Silent rs4698776 4 110590821 [A/G] NM_017918 CCDC109B Silent rs13103167 4 110593460 [A/C] NM_017918 CCDC109B Silent exm418307 4 110603744 [T/C] NM_017918 CCDC109B EXON Missense_P153L exm418317 4 110605624 [T/C] NM_017918 CCDC109B EXON Missense_S213L exm2063707 4 110605702 [A/C] NM_017918 CCDC109B EXON Missense_T239K exm418321 4 110605744 [A/T] NM_017918 CCDC109B EXON Missense_Y253F exm418322 4 110605749 [A/G] NM_017918 CCDC109B EXON Missense_I255V exm418323 4 110605767 [A/G] NM_017918 CCDC109B EXON Missense_M261V exm418325 4 110605798 [A/G] NM_017918 CCDC109B EXON Missense_R271Q exm418329 4 110608696 [A/G] NM_017918 CCDC109B EXON Missense_R320H exm418344 4 110612105 [T/A] NM_001226,NM_032992 CASP6,CASP6 EXON Missense_T182S,Missense_T93S indel.82361 4 110615683 [I/D] NM_001226,NM_032992 CASP6,CASP6 EXON exm418351 4 110615839 [T/C] NM_001226,NM_032992 CASP6,CASP6 EXON Missense_A109T,Missense_A20T newrs148210591 4 110617569 [A/C] NM_001226,NM_032992 CASP6,CASP6 EXON Nonsense_E102X,Silent exm418359 4 110618790 [T/G] NM_001226,NM_032992 CASP6,CASP6 EXON Missense_N73T,Silent rs1541373 4 110628894 [T/C] rs3087494 4 110631621 [A/G] NM_030821 PLA2G12A EXON Silent exm418388 4 110638764 [A/G] NM_030821 PLA2G12A EXON Missense_C131R exm418398 4 110638865 [T/C] NM_030821 PLA2G12A EXON Missense_N97S exm418399 4 110638871 [A/T] NM_030821 PLA2G12A Silent rs7439493 4 110656730 [A/G] exm-rs10033900 4 110659067 [T/C] exm418413 4 110662092 [G/C] NM_000204 CFI EXON Missense_S570T exm418414 4 110662144 [A/G] NM_000204 CFI EXON Missense_P553S exm2256276 4 110662220 [A/G] NM_000204 CFI EXON Synonymous_G527G exm2256277 4 110662253 [A/G] NM_000204 CFI EXON Synonymous_G516G newrs114013791 4 110663642 [A/C] NM_000204 CFI Silent exm418426 4 110667387 [A/G] NM_000204 CFI EXON Nonsense_R474X exm418433 4 110667464 [T/C] NM_000204 CFI EXON Missense_R448H exm418435 4 110667485 [T/C] NM_000204 CFI EXON Missense_K441R exm418438 4 110667561 [T/G] NM_000204 CFI EXON Missense_I416L exm418440 4 110667590 [T/C] NM_000204 CFI EXON Missense_R406H rs7438961 4 110668651 [A/G] NM_000204 CFI Silent exm418448 4 110670451 [A/C] NM_000204 CFI EXON Missense_I357M exm418449 4 110670458 [A/C] NM_000204 CFI EXON Missense_V355G variant.82374 4 110670680 [A/G] NM_000204 CFI EXON Missense_I340T var_4_110670684 4 110670684 [A/G] NM_000204 CFI EXON Nonsense_R339X exm418457 4 110670750 [A/G] NM_000204 CFI EXON Missense_R317W exm418459 4 110673648 [T/C] NM_000204 CFI EXON Missense_I306V newrs182078921 4 110681450 [T/C] NM_000204 CFI EXON Missense_G287R rs2298749 4 110681505 [T/C] NM_000204 CFI EXON Synonymous_S268S exm418469 4 110681521 [A/C] NM_000204 CFI EXON Missense_G263V exm418470 4 110681527 [T/C] NM_000204 CFI EXON Missense_G261D exm418472 4 110681679 [T/C] NM_000204 CFI EXON Missense_A258T exm418482 4 110682723 [A/G] NM_000204 CFI EXON Missense_T203I exm2063770 4 110682728 [T/G] NM_000204 CFI EXON Missense_R201S exm418485 4 110682771 [T/C] NM_000204 CFI EXON Missense_R187Q variant.82384 4 110682772 [A/G] NM_000204 CFI EXON Nonsense_R187X exm418486 4 110682783 [T/C] NM_000204 CFI EXON Missense_H183R exm418490 4 110682827 [A/C] NM_000204 CFI EXON Missense_R168S exm418491 4 110682829 [T/C] NM_000204 CFI EXON Missense_R168G rs7439356 4 110684744 [T/C] NM_000204 CFI Silent variant.82386 4 110685721 [T/C] NM_000204 CFI EXON Missense_V152M exm418501 4 110685820 [T/C] NM_000204 CFI EXON Missense_G119R exm418505 4 110687719 [T/C] NM_000204 CFI EXON Missense_T107A variant.82390 4 110687983 [A/G] NM_000204 CFI Silent rs4698788 4 110719534 [T/C] NM_000204 CFI Silent rs7675460 4 110720588 [A/C] NM_000204 CFI Silent rs884711 4 110726322 [A/C] rs4698790 4 110727560 [T/G] rs11930711 4 110734498 [A/G] variant.82391 4 110737307 [A/G] NM_018983,NM_032993 GAR1,GAR1 Silent,Silent exm418540 4 110737403 [T/A] NM_018983,NM_032993 GAR1,GAR1 EXON Missense_H28L,Missense_H28L exm418550 4 110739212 [A/G] NM_018983,NM_032993 GAR1,GAR1 EXON Missense_K112R,Missense_K112R exm418560 4 110743643 [T/C] NM_018983,NM_032993 GAR1,GAR1 EXON Synonymous_G190G,Synonymous_G190G rs4353905 4 110745938 [A/G] exm418573 4 110749236 [T/C] NM_006583 RRH EXON Missense_S18L indel.82394 4 110749289 [D/I] NM_006583 RRH EXON rs13150454 4 110756211 [A/G] NM_006583 RRH Silent exm418589 4 110756579 [A/G] NM_006583 RRH EXON Missense_V119M exm2240317 4 110756594 [T/A] NM_006583 RRH EXON Missense_Y124N exm418597 4 110757188 [A/C] NM_006583 RRH EXON Nonsense_Y141X indel.82396 4 110757269 [I/D] NM_006583 RRH EXON exm418605 4 110758625 [T/C] NM_006583 RRH EXON Missense_A195V exm418606 4 110758673 [A/G] NM_006583 RRH EXON Missense_H211R exm418612 4 110763646 [A/G] NM_006583 RRH EXON Missense_M248V exm418615 4 110763725 [G/C] NM_006583 RRH EXON Missense_P274R exm418618 4 110763764 [T/C] NM_006583 RRH EXON Missense_T287I exm418620 4 110765243 [T/C] NM_006583 RRH EXON Missense_R302W exm418621 4 110765244 [A/G] NM_006583 RRH EXON Missense_R302Q rs6839680 4 110765496 [T/C] NM_006583 RRH EXON Silent exm418632 4 110772701 [T/C] NM_198506 LRIT3 EXON Missense_T53M exm418638 4 110772922 [T/G] NM_198506 LRIT3 EXON Missense_D127Y exm418639 4 110772947 [T/A] NM_198506 LRIT3 EXON Missense_D135V exm418641 4 110773048 [A/C] NM_198506 LRIT3 EXON Missense_P169T exm418643 4 110773067 [A/G] NM_198506 LRIT3 EXON Missense_S175N exm418644 4 110773108 [T/C] NM_198506 LRIT3 EXON Missense_L189F rs2078040 4 110779516 [A/G] NM_198506 LRIT3 Silent rs7654660 4 110784379 [A/G] NM_198506 LRIT3 Silent rs17040920 4 110785384 [A/G] NM_198506 LRIT3 Silent rs7679048 4 110786290 [T/C] NM_198506 LRIT3 Silent rs11940838 4 110787993 [A/C] NM_198506 LRIT3 Silent exm418649 4 110788917 [A/G] NM_198506 LRIT3 EXON Missense_R237H variant.82398 4 110788937 [T/C] NM_198506 LRIT3 EXON Nonsense_Q244X exm418656 4 110789102 [C/G] NM_198506 LRIT3 EXON Missense_V299L exm418664 4 110790911 [T/A] NM_198506 LRIT3 EXON Missense_M336L exm418666 4 110790951 [T/C] NM_198506 LRIT3 EXON Missense_T349I exm418675 4 110791064 [T/G] NM_198506 LRIT3 EXON Missense_W387G exm418688 4 110791178 [A/C] NM_198506 LRIT3 EXON Missense_T425P exm418689 4 110791191 [A/G] NM_198506 LRIT3 EXON Missense_S429N exm418691 4 110791221 [A/G] NM_198506 LRIT3 EXON Missense_K439R var_4_110791223 4 110791223 [T/C] NM_198506 LRIT3 EXON Nonsense_R440X exm418695 4 110791347 [T/C] NM_198506 LRIT3 EXON Missense_T481M exm418696 4 110791350 [A/C] NM_198506 LRIT3 EXON Missense_E482A exm418698 4 110791361 [A/G] NM_198506 LRIT3 EXON Missense_A486T exm418699 4 110791413 [T/C] NM_198506 LRIT3 EXON Missense_T503M exm418707 4 110791526 [A/G] NM_198506 LRIT3 EXON Missense_I541V variant.82401 4 110791550 [T/C] NM_198506 LRIT3 EXON Nonsense_Q549X variant.82402 4 110791838 [T/C] NM_198506 LRIT3 EXON Nonsense_R645X rs6847467 4 110800020 [A/G] rs17040963 4 110803807 [T/C] rs9685587 4 110803816 [A/G] rs11937583 4 110808173 [A/G] exm-rs17316633 4 110825634 [A/G] rs4444903 4 110834110 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Silent,Silent,Silent exm418722 4 110834537 [A/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_S16R,Missense_S16R,Missense_S16R exm418723 4 110834538 [C/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_S16T,Missense_S16T,Missense_S16T variant.82403 4 110834619 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF Silent,Silent,Silent rs2298982 4 110846796 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF Silent,Silent,Silent exm418734 4 110864530 [A/T] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_S150T,Missense_S150T,Missense_S150T exm418735 4 110864533 [T/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_H151Y,Missense_H151Y,Missense_H151Y exm418736 4 110864546 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_S155N,Missense_S155N,Missense_S155N exm418747 4 110865150 [C/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_R221T,Missense_R221T,Missense_R221T variant.82404 4 110865175 [A/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Nonsense_C229X,Nonsense_C229X,Nonsense_C229X variant.82405 4 110866227 [A/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF Silent,Silent,Silent exm418752 4 110866260 [C/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_D257H,Missense_D257H,Missense_D257H var_4_110866282 4 110866282 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Nonsense_W264X,Nonsense_W264X,Nonsense_W264X exm418756 4 110866366 [T/A] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_L292H,Missense_L292H,Missense_L292H rs4698756 4 110866442 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF Silent,Silent,Silent exm418767 4 110882053 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_G366D,Missense_G324D,Missense_G366D variant.82407 4 110882136 [T/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Nonsense_R394X,Nonsense_R352X,Nonsense_R394X exm418771 4 110882145 [T/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Nonsense_Q397X,Nonsense_Q355X,Nonsense_Q397X rs9992755 4 110882590 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF Silent,Silent,Silent rs11568943 4 110883121 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_R431K,Missense_R389K,Missense_R431K exm418775 4 110883121 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_R431K,Missense_R389K,Missense_R431K exm418782 4 110884383 [A/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_P456Q,Missense_P414Q,Missense_P456Q exm2256278 4 110884420 [T/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Synonymous_D468D,Synonymous_D426D,Synonymous_D468D exm418785 4 110884432 [A/T] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_D472E,Missense_D430E,Missense_D472E exm2063867 4 110885619 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_T501A,Missense_T459A,Missense_T501A indel.82409 4 110885639 [D/I] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON variant.82410 4 110890187 [T/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Nonsense_R546X,Nonsense_R504X,Nonsense_R546X exm418796 4 110890274 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_G575R,Missense_G533R,Missense_G575R rs9991367 4 110894301 [T/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF Silent,Silent,Silent exm418800 4 110895923 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_I597V,Missense_I555V,Missense_I597V variant.82412 4 110895938 [T/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Nonsense_G602X,Nonsense_G560X,Nonsense_G602X exm418806 4 110897229 [T/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_L631F,Missense_L589F,Missense_L631F rs2302135 4 110901147 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Synonymous_A691A,Synonymous_A649A,Synonymous_A691A rs2237051 4 110901198 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_M708I,Missense_M666I,Missense_M708I exm418815 4 110901198 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_M708I,Missense_M666I,Missense_M708I variant.82413 4 110901300 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF Silent,Silent,Silent exm418820 4 110901983 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Synonymous_G741G,Synonymous_G699G,Synonymous_G741G exm418827 4 110902111 [T/A] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_D784V,Missense_D742V,Missense_D784V newrs140133196 4 110904577 [T/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF Silent,Silent,Silent exm418836 4 110908933 [T/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_M842T,Missense_M800T,Missense_M842T exm418837 4 110908942 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_R845Q,Missense_R803Q,Missense_R845Q exm418843 4 110909805 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_E892K,Missense_E850K,Missense_E892K indel.82418 4 110914401 [D/I] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF exm418845 4 110914427 [T/A] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Silent,Missense_E878V,Missense_E920V exm418847 4 110914495 [T/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Silent,Missense_R901C,Missense_R943C exm418862 4 110920947 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_V999M,Missense_V998M,Missense_V1040M exm418864 4 110920956 [T/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_L1002F,Missense_L1001F,Missense_L1043F variant.82420 4 110921007 [T/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF Silent,Silent,Silent rs3822286 4 110925459 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF Silent,Silent,Silent exm418870 4 110925696 [T/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_P1029L,Missense_P1028L,Missense_P1070L exm418872 4 110925738 [G/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_A1043G,Missense_A1042G,Missense_A1084G newrs138244768 4 110925770 [T/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Nonsense_Q1054X,Nonsense_Q1053X,Nonsense_Q1095X rs11569121 4 110929128 [A/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF Silent,Silent,Silent exm418879 4 110929374 [T/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Nonsense_Q1079X,Nonsense_Q1078X,Nonsense_Q1120X exm418883 4 110932508 [A/C] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_T1133N,Missense_T1132N,Missense_T1174N exm418884 4 110932517 [C/G] NM_001178130,NM_001178131,NM_001963 EGF,EGF,EGF EXON Missense_G1136A,Missense_G1135A,Missense_G1177A rs17041230 4 110937515 [T/C] rs4698804 4 110940045 [T/C] exm2261582 4 110940045 [T/C] rs17041245 4 110945256 [T/C] rs6854522 4 110953909 [A/G] exm418892 4 110972529 [T/C] NM_024090,NM_001130721 ELOVL6,ELOVL6 EXON Missense_I255V,Missense_I255V rs7662161 4 110975433 [T/C] NM_024090,NM_001130721 ELOVL6,ELOVL6 Silent,Silent rs16997129 4 110989719 [T/C] NM_024090,NM_001130721 ELOVL6,ELOVL6 Silent,Silent rs11737840 4 110994243 [T/C] NM_024090,NM_001130721 ELOVL6,ELOVL6 Silent,Silent rs10033691 4 110995710 [T/C] NM_024090,NM_001130721 ELOVL6,ELOVL6 Silent,Silent rs2005701 4 110997775 [T/C] NM_024090,NM_001130721 ELOVL6,ELOVL6 Silent,Silent rs34415611 4 111007345 [A/G] NM_024090,NM_001130721 ELOVL6,ELOVL6 Silent,Silent rs3733623 4 111026520 [A/G] NM_024090,NM_001130721 ELOVL6,ELOVL6 Silent,Silent exm-rs10011926 4 111026927 [T/C] NM_024090,NM_001130721 ELOVL6,ELOVL6 Silent,Silent rs6533491 4 111030787 [T/C] NM_024090,NM_001130721 ELOVL6,ELOVL6 Silent,Silent rs1125819 4 111036402 [T/C] NM_024090,NM_001130721 ELOVL6,ELOVL6 Silent,Silent rs10010167 4 111051486 [T/C] NM_024090,NM_001130721 ELOVL6,ELOVL6 Silent,Silent exm2265744 4 111055435 [A/G] NM_024090,NM_001130721 ELOVL6,ELOVL6 Silent,Silent rs6813255 4 111072985 [A/G] NM_024090,NM_001130721 ELOVL6,ELOVL6 Silent,Silent rs2200106 4 111079337 [A/G] NM_024090,NM_001130721 ELOVL6,ELOVL6 Silent,Silent rs2035415 4 111084981 [T/C] NM_024090,NM_001130721 ELOVL6,ELOVL6 Silent,Silent rs1384331 4 111105442 [T/G] NM_024090,NM_001130721 ELOVL6,ELOVL6 Silent,Silent rs6533498 4 111112788 [A/C] NM_024090,NM_001130721 ELOVL6,ELOVL6 Silent,Silent rs12499874 4 111129756 [A/G] rs4698761 4 111143870 [A/C] rs4698816 4 111144049 [A/G] rs7697518 4 111151421 [T/C] rs13105344 4 111158481 [A/G] rs17041514 4 111164592 [A/G] rs7661205 4 111166999 [T/C] rs1482470 4 111173378 [A/G] rs10009070 4 111181565 [T/C] rs7656124 4 111187683 [T/C] rs7694909 4 111195127 [A/G] rs17542839 4 111197373 [T/C] rs2713949 4 111198328 [T/C] rs763298 4 111218256 [A/C] rs244043 4 111227771 [A/C] rs13113943 4 111241892 [A/G] rs4698832 4 111249625 [A/G] rs10011752 4 111252829 [T/G] rs244019 4 111254360 [T/C] rs244017 4 111255917 [T/G] rs244005 4 111262618 [T/C] rs243988 4 111267671 [A/G] rs10027970 4 111268100 [T/C] rs400966 4 111278172 [T/C] rs243973 4 111286032 [T/C] rs17625855 4 111288254 [T/C] rs243957 4 111295923 [A/G] rs17041746 4 111313114 [T/G] rs2348205 4 111313570 [A/G] rs1027045 4 111319763 [T/C] rs2087160 4 111334730 [T/G] rs1879057 4 111335722 [T/C] exm-rs6825911 4 111381638 [T/C] rs6814283 4 111388265 [T/C] rs17041821 4 111392963 [T/C] rs1879053 4 111396948 [T/C] exm418912 4 111397628 [A/G] NM_001977 ENPEP EXON Missense_A20T exm418915 4 111397664 [A/G] NM_001977 ENPEP EXON Missense_I32V exm418938 4 111398207 [T/C] NM_001977 ENPEP EXON Nonsense_Q213X exm418939 4 111398208 [A/G] NM_001977 ENPEP EXON Missense_Q213R rs10004516 4 111398208 [A/G] NM_001977 ENPEP EXON Missense_Q213R newrs139258778 4 111412219 [T/C] NM_001977 ENPEP EXON Nonsense_R273X rs17041828 4 111419299 [A/G] NM_001977 ENPEP Silent rs939213 4 111420577 [A/G] NM_001977 ENPEP Silent rs11731078 4 111426341 [T/C] NM_001977 ENPEP Silent indel.82430 4 111427818 [I/D] NM_001977 ENPEP EXON variant.82431 4 111430854 [A/G] NM_001977 ENPEP EXON Nonsense_W362X exm418960 4 111430926 [A/G] NM_001977 ENPEP EXON Missense_R386K exm418961 4 111430963 [A/G] NM_001977 ENPEP EXON Synonymous_Q398Q newrs33966350 4 111431444 [A/G] NM_001977 ENPEP EXON Nonsense_W413X exm418963 4 111431444 [A/G] NM_001977 ENPEP EXON Nonsense_W413X exm418965 4 111434571 [A/C] NM_001977 ENPEP EXON Missense_R437S exm418966 4 111434572 [A/G] NM_001977 ENPEP EXON Missense_R437H indel.82436 4 111434635 [D/I] NM_001977 ENPEP EXON exm418970 4 111434683 [T/C] NM_001977 ENPEP EXON Missense_F474S rs2348433 4 111437127 [A/C] NM_001977 ENPEP Silent rs7356191 4 111437986 [A/G] NM_001977 ENPEP Silent exm418975 4 111441371 [C/G] NM_001977 ENPEP EXON Missense_A526P exm418979 4 111441426 [A/T] NM_001977 ENPEP EXON Missense_Y544F newrs138043602 4 111441503 [T/C] NM_001977 ENPEP EXON Nonsense_Q570X exm418985 4 111441503 [T/C] NM_001977 ENPEP EXON Nonsense_Q570X exm2256280 4 111445587 [A/G] NM_001977 ENPEP Silent rs670014 4 111454631 [A/G] NM_001977 ENPEP Silent rs478454 4 111463277 [T/C] NM_001977 ENPEP Silent exm418990 4 111463967 [A/G] NM_001977 ENPEP EXON Missense_H623R var_4_111464231 4 111464231 [A/G] NM_001977 ENPEP Silent exm2063953 4 111470684 [A/G] NM_001977 ENPEP EXON Synonymous_K742K exm419017 4 111470871 [A/G] NM_001977 ENPEP Silent exm419018 4 111470904 [T/G] NM_001977 ENPEP EXON Missense_R788L variant.82444 4 111471043 [T/G] NM_001977 ENPEP Silent rs17041900 4 111473485 [T/G] NM_001977 ENPEP Silent exm419024 4 111474532 [T/C] NM_001977 ENPEP EXON Nonsense_R855X exm419026 4 111474552 [A/C] NM_001977 ENPEP EXON Missense_S861R newrs148232326 4 111474579 [A/G] NM_001977 ENPEP EXON Nonsense_W870X exm419028 4 111474611 [A/G] NM_001977 ENPEP EXON Missense_R881K rs2029073 4 111477949 [A/G] NM_001977 ENPEP Silent indel.82448 4 111482562 [I/D] NM_001977 ENPEP EXON exm419033 4 111482613 [A/G] NM_001977 ENPEP EXON Missense_R925G exm419035 4 111482692 [T/C] NM_001977 ENPEP EXON Missense_F951S rs11721423 4 111501269 [T/C] rs9790621 4 111530168 [A/G] rs10024173 4 111538121 [A/G] exm419051 4 111539637 [T/C] NM_153427,NM_000325,NM_001204397,NM_001204399,NM_001204398,NM_153426 PITX2,PITX2,PITX2,PITX2,PITX2,PITX2 EXON Missense_M154V,Missense_M207V,Missense_M200V,Missense_M154V,Missense_M200V,Missense_M200V variant.82452 4 111539644 [A/G] NM_153427,NM_000325,NM_001204397,NM_001204399,NM_001204398,NM_153426 PITX2,PITX2,PITX2,PITX2,PITX2,PITX2 EXON Synonymous_F151F,Synonymous_F204F,Synonymous_F197F,Synonymous_F151F,Synonymous_F197F,Synonymous_F197F exm419071 4 111543496 [A/G] NM_153427,NM_000325,NM_001204397,NM_001204399,NM_001204398,NM_153426 PITX2,PITX2,PITX2,PITX2,PITX2,PITX2 EXON Silent,Missense_P41S,Silent,Silent,Silent,Silent rs1448818 4 111570223 [A/C] rs1982360 4 111571042 [T/C] rs2723298 4 111608485 [T/C] rs7667461 4 111622134 [A/G] rs969642 4 111625925 [T/C] rs2723313 4 111627489 [A/G] rs16997168 4 111629039 [T/C] rs1448817 4 111641053 [A/G] rs10019689 4 111649869 [A/C] rs11098090 4 111656408 [T/C] rs4605724 4 111685081 [A/C] rs2129982 4 111704143 [A/G] rs6817105 4 111705768 [T/C] exm-rs17042171 4 111708287 [A/C] exm-rs2200733 4 111710169 [T/C] exm-rs6843082 4 111718067 [A/G] rs11931959 4 111719685 [A/G] exm-rs10033464 4 111720761 [T/G] rs723363 4 111724501 [T/C] exm-rs723363 4 111724501 [T/C] rs3853441 4 111729740 [T/C] rs880309 4 111735539 [A/G] rs13130446 4 111739156 [T/C] rs3866838 4 111753815 [T/C] rs3853445 4 111761487 [T/C] rs6838973 4 111765495 [T/C] rs4631108 4 111773867 [A/C] rs10213323 4 111780482 [T/C] rs4033104 4 111783306 [A/G] rs695183 4 111787380 [T/C] rs4833470 4 111787455 [A/G] rs11098092 4 111798201 [A/G] rs6843250 4 111799417 [T/G] rs577781 4 111804131 [A/G] rs536099 4 111812462 [A/G] rs530794 4 111831051 [A/G] rs886840 4 111858116 [A/G] rs10004479 4 111866337 [T/C] rs7439813 4 111913732 [T/G] rs10002518 4 111927642 [A/G] rs6850589 4 111932510 [T/C] rs159471 4 111960686 [T/C] rs6840447 4 111966090 [A/G] exm2265862 4 111968478 [A/G] rs159439 4 111984518 [T/G] rs190042 4 111986946 [T/C] exm2269819 4 112003371 [T/C] rs297012 4 112004589 [T/C] rs439192 4 112024192 [T/G] rs11932853 4 112024388 [T/C] rs294941 4 112051379 [A/G] rs9884929 4 112060015 [A/C] rs17042789 4 112061855 [A/G] rs12508528 4 112077613 [T/C] rs7660826 4 112100154 [A/G] rs1546053 4 112126757 [T/G] rs1552445 4 112129311 [T/C] rs17042944 4 112131789 [T/C] rs17042997 4 112145870 [A/G] rs1490901 4 112157798 [A/G] rs11098109 4 112173532 [T/G] rs7669813 4 112176909 [A/G] rs1388152 4 112179424 [T/C] rs7694111 4 112193351 [T/C] rs17043035 4 112198777 [A/G] rs17576345 4 112201846 [T/C] rs11098115 4 112207954 [A/G] rs6833281 4 112209616 [T/C] rs1118276 4 112209738 [T/C] rs4833619 4 112217944 [T/C] rs4834781 4 112220899 [T/C] rs9307366 4 112233572 [A/G] rs7684254 4 112244790 [A/G] rs11727195 4 112254270 [A/G] rs6827570 4 112265165 [A/G] rs2661762 4 112277270 [A/C] rs1388158 4 112279167 [A/G] rs1910452 4 112289444 [A/C] rs1394001 4 112307357 [A/G] rs7669293 4 112312860 [A/G] rs6833355 4 112336798 [A/G] rs1910455 4 112345629 [T/C] rs3109360 4 112357791 [A/G] rs2661781 4 112390143 [A/G] rs2654735 4 112398613 [T/G] rs906568 4 112402558 [T/C] rs2661773 4 112405007 [A/C] rs924758 4 112419559 [T/C] rs17043348 4 112466269 [A/G] rs1806506 4 112467251 [A/G] rs9992389 4 112497952 [T/C] rs10015214 4 112524778 [T/C] rs980387 4 112538240 [T/C] rs2717207 4 112550848 [A/G] rs10025530 4 112568464 [T/C] rs4833869 4 112576171 [A/G] rs10014697 4 112584467 [T/C] exm2269820 4 112591777 [T/C] exm-rs10034228 4 112611750 [T/C] kgp3028007 4 112618815 [A/G] rs326896 4 112669571 [T/C] rs6823743 4 112673539 [A/G] exm-rs1585471 4 112702635 [A/G] rs6815054 4 112712361 [T/C] rs326880 4 112729781 [A/G] rs326866 4 112739250 [A/G] rs7671351 4 112744390 [A/G] rs2199342 4 112762156 [T/C] rs400245 4 112771435 [T/C] rs1395061 4 112793270 [A/C] rs13435138 4 112793563 [A/C] rs6843121 4 112799771 [A/C] rs3850475 4 112809145 [A/G] rs3913813 4 112824982 [A/G] rs17589087 4 112844733 [A/G] rs722052 4 112845980 [A/G] rs1981567 4 112885796 [T/C] rs4834106 4 112900775 [T/C] rs6812046 4 112902209 [T/C] rs7654718 4 112905223 [A/G] rs7660014 4 112909820 [T/G] rs3850482 4 112914966 [A/C] exm-rs17589290 4 112923237 [G/C] rs12500823 4 112929836 [A/G] rs2018700 4 112979568 [A/C] rs12506001 4 112987361 [A/G] rs4240282 4 112995439 [T/G] exm2261585 4 113001776 [T/C] rs9307378 4 113014647 [A/G] rs10004030 4 113019167 [A/G] rs1968489 4 113034504 [T/C] rs7699106 4 113035523 [T/C] rs6836984 4 113039827 [A/G] rs7682303 4 113042939 [T/C] rs1521477 4 113050302 [A/C] rs1040278 4 113079391 [T/C] NM_152400 C4orf32 Silent rs10212874 4 113106286 [A/C] NM_152400 C4orf32 Silent exm419104 4 113108007 [A/C] NM_152400 C4orf32 EXON Missense_F104L exm419106 4 113108065 [T/G] NM_152400 C4orf32 EXON Missense_C124G rs17044316 4 113118666 [A/G] rs4834241 4 113120268 [T/C] rs4834244 4 113150559 [T/C] rs17044330 4 113159977 [A/G] NM_001128426,NM_018569 AP1AR,AP1AR Silent,Silent exm419117 4 113175916 [T/C] NM_001128426,NM_018569 AP1AR,AP1AR EXON Missense_V49A,Missense_V49A exm419134 4 113186198 [T/C] NM_001128426,NM_018569 AP1AR,AP1AR EXON Missense_P106S,Missense_P139S exm419143 4 113187818 [A/G] NM_001128426,NM_018569 AP1AR,AP1AR EXON Missense_T164A,Missense_T197A exm419152 4 113189482 [A/G] NM_001128426,NM_018569 AP1AR,AP1AR EXON Missense_E243K,Missense_E276K exm419154 4 113189546 [T/C] NM_001128426,NM_018569 AP1AR,AP1AR EXON Missense_T264I,Missense_T297I rs6836717 4 113194675 [A/G] exm419160 4 113199046 [A/G] NM_052864 TIFA EXON Missense_P176L exm419166 4 113199131 [G/C] NM_052864 TIFA EXON Missense_L148V exm419167 4 113199143 [A/G] NM_052864 TIFA EXON Missense_S144P indel.82459 4 113199151 [I/D] NM_052864 TIFA EXON exm419171 4 113199224 [T/C] NM_052864 TIFA EXON Missense_V117I indel.82460 4 113199285 [D/I] NM_052864 TIFA EXON exm2274043 4 113199391 [T/C] NM_052864 TIFA EXON Missense_Q61R exm419180 4 113199517 [A/G] NM_052864 TIFA EXON Missense_T19M rs12510189 4 113200382 [T/C] NM_052864 TIFA Silent rs17627616 4 113214531 [T/C] rs12648308 4 113243456 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs1544382 4 113244313 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs4834262 4 113251247 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs2351454 4 113260465 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs17528404 4 113262777 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs2240033 4 113264524 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs11098152 4 113269731 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs4834267 4 113278511 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs1009475 4 113280747 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs4834269 4 113281951 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs7694057 4 113293314 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent newrs112863137 4 113298885 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Silent,Silent,Silent rs7673053 4 113302869 [T/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent exm419193 4 113303616 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_V62M,Silent,Missense_V62M exm419194 4 113303632 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_Q67R,Silent,Missense_Q67R rs7664678 4 113311741 [T/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs4833407 4 113311790 [A/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs2882661 4 113317475 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs2351458 4 113317583 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs7663969 4 113320553 [A/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs6838405 4 113327945 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs6838440 4 113328078 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent exm2264064 4 113328669 [A/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs6829461 4 113339161 [T/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs7658978 4 113344564 [A/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent exm419209 4 113345147 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_N175D,Missense_N97D,Missense_N175D exm419211 4 113346846 [T/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_S187R,Missense_S109R,Missense_S187R rs10017209 4 113346996 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent variant.82468 4 113347699 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Synonymous_K233K,Synonymous_K155K,Synonymous_K233K exm419226 4 113350387 [A/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_P293Q,Missense_P215Q,Missense_P293Q rs12649485 4 113350665 [A/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent 1KG_4_113351694 4 113351694 [I/D] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON newrs145534835 4 113351748 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Nonsense_Q349X,Nonsense_Q271X,Nonsense_Q349X exm419236 4 113351809 [T/A] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_H369L,Missense_H291L,Missense_H369L exm419240 4 113351850 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_K383E,Missense_K305E,Missense_K383E indel.82472 4 113351965 [I/D] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON exm419241 4 113352014 [C/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_F437L,Missense_F359L,Missense_F437L exm419244 4 113352075 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_T458A,Missense_T380A,Missense_T458A exm419247 4 113352194 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_I497M,Missense_I419M,Missense_I497M exm419248 4 113352214 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_S504N,Missense_S426N,Missense_S504N exm419249 4 113352272 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_M523I,Missense_M445I,Missense_M523I exm419255 4 113352397 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_G565D,Missense_G487D,Missense_G565D indel.82473 4 113352429 [D/I] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON exm419256 4 113352446 [A/T] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_S581R,Missense_S503R,Missense_S581R exm419258 4 113352488 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Nonsense_W595X,Nonsense_W517X,Nonsense_W595X exm419259 4 113352507 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_V602I,Missense_V524I,Missense_V602I exm419266 4 113352568 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_S622F,Missense_S544F,Missense_S622F exm419267 4 113352578 [T/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_L625F,Missense_L547F,Missense_L625F exm2064033 4 113352597 [C/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_D632H,Missense_D554H,Missense_D632H 1KG_4_113352617 4 113352617 [I/D] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON rs13148353 4 113352628 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_H642R,Missense_H564R,Missense_H642R exm419270 4 113352628 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_H642R,Missense_H564R,Missense_H642R exm419271 4 113352644 [T/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_D647E,Missense_D569E,Missense_D647E exm2240328 4 113352682 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_P660L,Missense_P582L,Missense_P660L exm419275 4 113352745 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_G681D,Missense_G603D,Missense_G681D exm419277 4 113352832 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_S710F,Missense_S632F,Missense_S710F exm419280 4 113352899 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_M732I,Missense_M654I,Missense_M732I newrs141506992 4 113352927 [T/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Nonsense_E742X,Nonsense_E664X,Nonsense_E742X exm419283 4 113352955 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_P751L,Missense_P673L,Missense_P751L variant.82476 4 113353005 [T/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Nonsense_E768X,Nonsense_E690X,Nonsense_E768X exm419290 4 113353115 [C/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_R804S,Missense_R726S,Missense_R804S exm419294 4 113353156 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_C818Y,Missense_C740Y,Missense_C818Y exm419297 4 113353285 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_M861T,Missense_M783T,Missense_M861T exm419299 4 113353290 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_V863I,Missense_V785I,Missense_V863I exm419300 4 113353311 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_G870S,Missense_G792S,Missense_G870S exm419301 4 113353321 [T/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_R873I,Missense_R795I,Missense_R873I exm419311 4 113353433 [A/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_E910D,Missense_E832D,Missense_E910D exm419313 4 113353449 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_N916D,Missense_N838D,Missense_N916D exm419318 4 113353522 [T/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_G940V,Missense_G862V,Missense_G940V exm419320 4 113353561 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_S953F,Missense_S875F,Missense_S953F exm419321 4 113353588 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_P962L,Missense_P884L,Missense_P962L exm2240330 4 113353607 [G/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_E968D,Missense_E890D,Missense_E968D exm419322 4 113353620 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_R973C,Missense_R895C,Missense_R973C exm419328 4 113353729 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_R1009Q,Missense_R931Q,Missense_R1009Q exm419331 4 113356306 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_A1013T,Missense_A935T,Missense_A1013T exm419334 4 113356363 [T/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_V1032F,Missense_V954F,Missense_V1032F indel.82478 4 113356393 [I/D] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON rs17628432 4 113356927 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent rs2023828 4 113356961 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 Silent,Silent,Silent exm419341 4 113359702 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_R1084Q,Missense_R1006Q,Missense_R1084Q exm419345 4 113359752 [A/G] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_E1101K,Missense_E1023K,Missense_E1101K exm419350 4 113359801 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_L1117P,Missense_L1039P,Missense_L1117P exm2064054 4 113360884 [A/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Missense_P1132T,Missense_P1054T,Missense_P1132T indel.82481 4 113362258 [D/I] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON rs11730442 4 113362463 [T/C] NM_001102406,NM_001253884,NM_025144 ALPK1,ALPK1,ALPK1 EXON Silent,Silent,Silent rs231263 4 113372448 [A/G] rs2074384 4 113377758 [A/G] rs7662734 4 113380119 [A/C] rs28806888 4 113382048 [T/C] rs17044746 4 113406671 [A/G] rs11936846 4 113409270 [A/G] exm419374 4 113435847 [A/G] NM_024019 NEUROG2 EXON Missense_A262V exm419398 4 113436546 [A/G] NM_024019 NEUROG2 EXON Missense_A29V rs10001894 4 113454932 [A/G] rs11726579 4 113459405 [T/C] rs13106629 4 113459416 [T/C] exm419402 4 113460814 [A/C] NM_018392 C4orf21 EXON Missense_Q2068H indel.82482 4 113460845 [D/I] NM_018392 C4orf21 EXON newrs142786578 4 113461018 [T/C] NM_018392 C4orf21 Silent exm419410 4 113461145 [A/C] NM_018392 C4orf21 EXON Missense_F2016V variant.82484 4 113461154 [A/G] NM_018392 C4orf21 EXON Nonsense_Q2013X indel.82485 4 113461161 [D/I] NM_018392 C4orf21 EXON exm419413 4 113461259 [T/C] NM_018392 C4orf21 EXON Missense_V1978M exm419414 4 113462071 [A/G] NM_018392 C4orf21 EXON Missense_T1939M exm419416 4 113462110 [A/G] NM_018392 C4orf21 EXON Missense_I1926T rs1486864 4 113465766 [T/G] NM_018392 C4orf21 Silent exm419420 4 113468440 [C/G] NM_018392 C4orf21 Silent exm419428 4 113468564 [T/C] NM_018392 C4orf21 EXON Synonymous_R1825R exm419430 4 113469473 [A/G] NM_018392 C4orf21 EXON Missense_P1804S indel.82488 4 113475002 [D/I] NM_018392 C4orf21 EXON exm419439 4 113479316 [T/C] NM_018392 C4orf21 EXON Missense_V1704I exm419444 4 113479385 [A/G] NM_018392 C4orf21 EXON Missense_P1681S exm419446 4 113481930 [T/C] NM_018392 C4orf21 EXON Missense_K1640R exm419450 4 113482007 [A/C] NM_018392 C4orf21 EXON Missense_K1614N exm419455 4 113482138 [T/C] NM_018392 C4orf21 EXON Missense_I1571V exm419456 4 113482141 [T/G] NM_018392 C4orf21 EXON Missense_T1570P exm419457 4 113482146 [A/G] NM_018392 C4orf21 EXON Missense_S1568L exm419459 4 113483611 [C/G] NM_018392 C4orf21 EXON Missense_A1538G indel.82489 4 113483632 [D/I] NM_018392 C4orf21 EXON indel.82490 4 113502823 [D/I] NM_018392 C4orf21 EXON exm419472 4 113505194 [A/G] NM_018392 C4orf21 EXON Missense_I1413T exm419473 4 113505203 [A/G] NM_018392 C4orf21 EXON Missense_I1410T exm419474 4 113505261 [T/C] NM_018392 C4orf21 EXON Missense_V1391M variant.82491 4 113505291 [A/G] NM_018392 C4orf21 EXON Nonsense_R1381X exm419475 4 113505291 [A/G] NM_018392 C4orf21 EXON Nonsense_R1381X exm419485 4 113507730 [T/C] NM_018392 C4orf21 EXON Missense_G1263S indel.82492 4 113508461 [I/D] NM_018392 C4orf21 EXON exm419492 4 113508584 [T/C] NM_018392 C4orf21 EXON Missense_Y1210C exm419495 4 113508707 [T/C] NM_018392 C4orf21 EXON Missense_D1169G exm419496 4 113508718 [G/C] NM_018392 C4orf21 EXON Missense_K1165N exm419498 4 113508810 [A/C] NM_018392 C4orf21 EXON Missense_V1135F exm419499 4 113508884 [A/G] NM_018392 C4orf21 EXON Missense_S1110L indel.82496 4 113511028 [D/I] NM_018392 C4orf21 EXON rs7676983 4 113513938 [T/C] NM_018392 C4orf21 Silent rs11724428 4 113519607 [A/G] NM_018392 C4orf21 Silent variant.82497 4 113524697 [A/G] NM_018392 C4orf21 EXON Nonsense_Q987X exm419512 4 113524723 [A/G] NM_018392 C4orf21 EXON Missense_T978I indel.82498 4 113524737 [D/I] NM_018392 C4orf21 EXON variant.82499 4 113527163 [T/C] NM_018392 C4orf21 Silent exm419523 4 113538671 [T/C] NM_018392 C4orf21 EXON Missense_E843K exm419525 4 113538720 [A/C] NM_018392 C4orf21 EXON Missense_I826M exm419556 4 113539391 [A/G] NM_018392 C4orf21 EXON Missense_F603L exm419560 4 113539487 [A/C] NM_018392 C4orf21 EXON Missense_C571G exm419565 4 113539694 [T/C] NM_018392 C4orf21 EXON Missense_M502V exm419575 4 113539969 [T/C] NM_018392 C4orf21 EXON Missense_N410S indel.82503 4 113540106 [I/D] NM_018392 C4orf21 EXON exm419588 4 113540174 [T/C] NM_018392 C4orf21 EXON Missense_T342A exm419597 4 113540306 [A/G] NM_018392 C4orf21 EXON Nonsense_Q298X exm419599 4 113540414 [T/C] NM_018392 C4orf21 EXON Missense_E262K exm419600 4 113540422 [A/G] NM_018392 C4orf21 EXON Missense_L259P indel.82504 4 113540450 [I/D] NM_018392 C4orf21 EXON exm419602 4 113540475 [C/G] NM_018392 C4orf21 EXON Missense_H241Q indel.82505 4 113540608 [I/D] NM_018392 C4orf21 EXON exm419609 4 113540755 [C/G] NM_018392 C4orf21 EXON Missense_P148R exm419611 4 113540768 [T/C] NM_018392 C4orf21 EXON Missense_K144E exm419613 4 113541211 [A/G] NM_018392 C4orf21 EXON Missense_S100P exm419615 4 113541267 [A/G] NM_018392 C4orf21 EXON Missense_I81T variant.82506 4 113541311 [T/G] NM_018392 C4orf21 EXON Nonsense_Y66X exm419617 4 113541332 [A/C] NM_018392 C4orf21 EXON Missense_D59E exm419618 4 113541346 [T/C] NM_018392 C4orf21 EXON Missense_V55M exm419620 4 113544993 [T/G] NM_018392 C4orf21 EXON Missense_L48M rs13146963 4 113558602 [A/G] NM_001267039,NM_016648,NR_049768 LARP7,LARP7,LARP7 Silent,Silent,Silent exm419629 4 113565835 [A/G] NM_001267039,NM_016648,NR_049768,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Missense_E11K,Missense_E4K,Silent,Missense_E4K indel.82509 4 113565890 [I/D] NM_001267039,NM_016648,NR_049768,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON exm419634 4 113566009 [G/C] NM_001267039,NM_016648,NR_049768,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Missense_E69Q,Missense_E62Q,Silent,Missense_E62Q variant.82510 4 113567609 [T/C] NM_001267039,NM_016648,NR_049768,NM_015454 LARP7,LARP7,LARP7,LARP7 Silent,Silent,Silent,Silent exm419640 4 113567760 [T/C] NM_001267039,NM_016648,NR_049768,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Missense_T114I,Missense_T107I,Silent,Missense_T107I variant.82512 4 113568125 [T/C] NM_001267039,NM_016648,NR_049768,NM_015454 LARP7,LARP7,LARP7,LARP7 Silent,Silent,Silent,Silent exm419654 4 113568359 [G/C] NM_001267039,NM_016648,NR_049768,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Missense_E224D,Missense_E217D,Silent,Missense_E217D exm419658 4 113568436 [A/C] NM_001267039,NM_016648,NR_049768,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Missense_T250K,Missense_T243K,Silent,Missense_T243K exm419659 4 113568442 [A/G] NM_001267039,NM_016648,NR_049768,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Missense_N252S,Missense_N245S,Silent,Missense_N245S exm419663 4 113568544 [A/G] NM_001267039,NM_016648,NR_049768,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Missense_R286Q,Missense_R279Q,Silent,Missense_R279Q exm419665 4 113568558 [A/G] NM_001267039,NM_016648,NR_049768,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Missense_A291T,Missense_A284T,Silent,Missense_A284T exm419668 4 113568686 [A/T] NM_001267039,NM_016648,NR_049768,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Missense_E333D,Missense_E326D,Silent,Missense_E326D indel.82514 4 113568831 [I/D] NM_001267039,NM_016648,NR_049768,NM_015454 LARP7,LARP7,LARP7,LARP7 exm419701 4 113570695 [A/G] NM_001267039,NM_016648,NR_049768,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Missense_E390K,Missense_E383K,Silent,Missense_E383K exm419709 4 113574284 [A/G] NM_001267039,NM_016648,NR_049768,NM_015454 LARP7,LARP7,LARP7,LARP7 EXON Missense_D497N,Missense_D490N,Silent,Missense_D490N rs6533631 4 113578266 [A/G] NM_001267039,NM_016648,NR_049768,NM_015454 LARP7,LARP7,LARP7,LARP7 Silent,Silent,Silent,Silent rs7664015 4 113609023 [T/C] rs6533636 4 113617694 [A/G] rs11731671 4 113622050 [T/C] rs10021207 4 113658555 [T/C] rs7654314 4 113685804 [T/C] rs11098171 4 113710173 [T/C] rs6829775 4 113719791 [T/C] rs10434020 4 113724018 [T/C] rs10433899 4 113724108 [A/G] rs17044986 4 113724181 [T/C] rs11732297 4 113737479 [A/G] rs6851781 4 113740351 [T/C] NM_001127493 ANK2 Silent rs10516590 4 113762103 [T/C] NM_001127493 ANK2 Silent rs10013796 4 113765546 [T/C] NM_001127493 ANK2 Silent rs11098178 4 113772458 [A/G] NM_001127493 ANK2 Silent rs1448221 4 113779891 [T/G] NM_001127493 ANK2 Silent rs7657978 4 113784482 [T/C] NM_001127493 ANK2 Silent rs17045113 4 113817332 [A/G] NM_001127493 ANK2 Silent rs4404544 4 113858241 [A/C] NM_001127493 ANK2 Silent rs10015915 4 113866368 [A/G] NM_001127493 ANK2 Silent exm2265863 4 113867271 [A/G] NM_001127493 ANK2 Silent rs12503954 4 113916575 [A/G] NM_001127493 ANK2 Silent rs1354680 4 113918577 [T/C] NM_001127493 ANK2 Silent exm2256287 4 113918577 [T/C] NM_001127493 ANK2 Silent rs6812106 4 113921105 [T/C] NM_001127493 ANK2 Silent rs2174558 4 113927365 [T/C] NM_001127493 ANK2 Silent rs7687726 4 113931773 [A/G] NM_001127493 ANK2 Silent rs1506064 4 113935712 [A/G] NM_001127493 ANK2 Silent rs17045384 4 113951743 [T/C] NM_001127493 ANK2 Silent rs13115459 4 113953383 [T/C] NM_001127493 ANK2 Silent rs1354681 4 113954926 [T/C] NM_001127493 ANK2 Silent rs10015472 4 113960961 [A/G] NM_001127493 ANK2 Silent rs716051 4 113964288 [A/G] NM_001127493 ANK2 Silent newrs139765650 4 113970968 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Synonymous_K28K,Synonymous_K28K rs1026975 4 113971374 [T/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs313980 4 113981730 [A/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs884555 4 113998638 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs7694725 4 114000956 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs2135354 4 114001887 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs12500552 4 114008326 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs7656666 4 114009586 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs6819998 4 114010341 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs592670 4 114013286 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs7683186 4 114013698 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs17476342 4 114016236 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs626267 4 114016978 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs6851877 4 114020087 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs1385662 4 114026519 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs10022885 4 114038963 [A/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs11945663 4 114041256 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs1506063 4 114047406 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent exm-rs7664927 4 114058373 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs7664927 4 114058373 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs17579878 4 114066333 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs10516593 4 114078812 [A/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs17590572 4 114080240 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs7697503 4 114086121 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs399754 4 114092317 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent exm419766 4 114095617 [G/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_L23V,Missense_L44V,Missense_L44V variant.82519 4 114095678 [T/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs6858425 4 114105776 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs4834321 4 114108991 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs11933707 4 114109593 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs2285710 4 114117472 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs967099 4 114118650 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs6533674 4 114122971 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs362492 4 114139428 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs362503 4 114164585 [T/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent exm419797 4 114170990 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_R300Q,Missense_R321Q,Missense_R321Q rs29436 4 114171605 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent exm419805 4 114177035 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_R358C,Missense_R379C,Missense_R379C rs29401 4 114193571 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent var_4_114195810 4 114195810 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs29394 4 114197064 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs29382 4 114201353 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent exm2256288 4 114203944 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Synonymous_P644P,Synonymous_P665P,Synonymous_P665P exm419837 4 114204009 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_N666S,Missense_N687S,Missense_N687S exm419841 4 114208825 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_T694I,Missense_T715I,Missense_T715I rs29306 4 114216903 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs29305 4 114216924 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs10013347 4 114222805 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent exm2256289 4 114224592 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent rs29314 4 114224764 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent var_4_114232524 4 114232524 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Nonsense_R867X,Nonsense_R888X,Nonsense_R888X exm419872 4 114239712 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_R925C,Missense_R946C,Missense_R946C exm419895 4 114254322 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_T1104A,Missense_T1113A,Missense_T1113A exm419907 4 114257199 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_R1184C,Missense_R1193C,Missense_R1193C rs2272230 4 114260538 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent exm419914 4 114262881 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_V1302I,Missense_V1311I,Missense_V1311I exm419922 4 114264270 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_K1398R,Missense_K1407R,Missense_K1407R exm419924 4 114267056 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_V1408I,Missense_V1417I,Missense_V1417I exm419926 4 114267117 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_T1428M,Missense_T1437M,Missense_T1437M exm419929 4 114267122 [T/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_G1430C,Missense_G1439C,Missense_G1439C exm419933 4 114269433 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_E1449G,Missense_E1458G,Missense_E1458G exm419942 4 114274230 [C/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_V1486L,Silent exm419944 4 114274329 [T/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_A1519S,Silent exm419950 4 114274518 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_R1582W,Silent exm419951 4 114274519 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_R1582Q,Silent exm419963 4 114275005 [A/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_A1744D,Silent exm2256290 4 114275087 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Synonymous_K1771K,Silent exm419967 4 114275145 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_V1791I,Silent exm419976 4 114275283 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_A1837T,Silent exm419981 4 114275425 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_S1884L,Silent exm419992 4 114275532 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_G1920R,Silent exm419994 4 114275548 [A/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_H1925P,Silent exm420012 4 114275917 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_Q2048R,Silent exm420016 4 114275950 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_T2059M,Silent exm420018 4 114275964 [A/T] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_S2064T,Silent exm420019 4 114275980 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_R2069H,Silent exm420021 4 114276002 [T/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_K2076N,Silent exm420032 4 114276408 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_G2212S,Silent exm420033 4 114276415 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_P2214L,Silent newrs140258681 4 114276594 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_R2274C,Silent variant.82525 4 114276596 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Synonymous_R2274R,Silent indel.82526 4 114276611 [I/D] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON exm420046 4 114276781 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_A2336V,Silent exm420051 4 114276880 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_V2369A,Silent exm420053 4 114276891 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_T2373A,Silent exm420056 4 114276906 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_E2378K,Silent exm420058 4 114276922 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_P2383L,Silent exm420062 4 114276957 [A/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_T2395P,Silent exm420065 4 114277039 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_S2422N,Silent exm420067 4 114277041 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_A2423T,Silent exm420073 4 114277171 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_R2466H,Silent exm420078 4 114277273 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_T2500M,Silent exm420093 4 114277605 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_Y2611H,Silent exm420109 4 114277918 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_S2715F,Silent exm420112 4 114278014 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_R2747H,Silent exm420115 4 114278128 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_S2785L,Silent exm420119 4 114278277 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_P2835S,Silent exm420131 4 114278617 [G/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_A2948G,Silent exm420134 4 114278666 [C/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_I2964M,Silent exm420138 4 114278753 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_I2993M,Silent exm420142 4 114278820 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_E3016K,Silent exm420145 4 114278835 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_A3021T,Silent exm420156 4 114279060 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_S3096G,Silent variant.82528 4 114279173 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Synonymous_Q3133Q,Silent exm420163 4 114279228 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_T3152A,Silent exm420165 4 114279300 [T/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_D3176Y,Silent exm420172 4 114279453 [A/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_T3227P,Silent exm2064286 4 114279456 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_V3228M,Silent exm420181 4 114279599 [T/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_D3275E,Silent exm420183 4 114279627 [A/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_I3285L,Silent exm420187 4 114279674 [A/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_S3300R,Silent exm420189 4 114279697 [G/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_T3308S,Silent exm420199 4 114280028 [A/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_R3418S,Silent exm420200 4 114280063 [A/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_E3430A,Silent exm2274045 4 114280136 [C/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Missense_R3454S,Silent exm2256291 4 114280145 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Silent,Synonymous_T3457T,Silent exm420211 4 114281999 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_R1474W,Missense_R3568W,Missense_R1483W newrs180843436 4 114282005 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_E1476K,Missense_E3570K,Missense_E1485K exm420216 4 114284618 [T/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_H1533Q,Missense_H3627Q,Missense_H1542Q rs11930964 4 114285321 [T/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent newrs143228029 4 114286206 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_V1540I,Missense_V3634I,Missense_V1549I exm420219 4 114286207 [T/A] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_V1540D,Missense_V3634D,Missense_V1549D exm420227 4 114286315 [A/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_T1576N,Missense_T3670N,Missense_T1585N exm420233 4 114288823 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_V1618I,Missense_V3712I,Missense_V1627I exm420236 4 114288907 [A/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_L1646I,Missense_L3740I,Missense_L1655I exm420238 4 114288920 [A/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_T1650N,Missense_T3744N,Missense_T1659N exm420242 4 114290810 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_R1726Q,Missense_R3820Q,Missense_R1735Q exm420243 4 114290816 [G/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_G1728A,Missense_G3822A,Missense_G1737A exm420244 4 114290844 [T/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_E1737D,Missense_E3831D,Missense_E1746D exm420245 4 114290867 [C/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_S1745T,Missense_S3839T,Missense_S1754T exm420247 4 114290875 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_R1748W,Missense_R3842W,Missense_R1757W newrs72556370 4 114294318 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_V1801M,Missense_V3895M,Missense_V1810M variant.82537 4 114294331 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 Silent,Silent,Silent exm420261 4 114294462 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_R1812W,Missense_R3906W,Missense_R1821W exm420264 4 114294471 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_S1815P,Missense_S3909P,Missense_S1824P var_4_114294507 4 114294507 [T/C] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Nonsense_Q1827X,Nonsense_Q3921X,Nonsense_Q1836X newrs45454496 4 114294537 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_E1837K,Missense_E3931K,Missense_E1846K exm420269 4 114294537 [A/G] NM_001127493,NM_001148,NM_020977 ANK2,ANK2,ANK2 EXON Missense_E1837K,Missense_E3931K,Missense_E1846K rs6826949 4 114305184 [T/C] rs6533680 4 114309577 [T/C] rs11098192 4 114318689 [A/G] rs1525004 4 114332705 [A/G] rs13129231 4 114352881 [A/G] rs6533687 4 114365275 [A/G] var_4_114376923 4 114376923 [T/C] NM_001221,NM_172127,NM_172128 CAMK2D,CAMK2D,CAMK2D EXON Nonsense_W496X,Silent,Silent exm420283 4 114376933 [A/G] NM_001221,NM_172127,NM_172128 CAMK2D,CAMK2D,CAMK2D EXON Missense_T493I,Silent,Silent exm420289 4 114378519 [A/G] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D EXON Missense_R469C,Missense_R469C,Missense_R469C,Missense_R469C,Missense_R483C,Missense_R480C rs1525000 4 114384869 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs916874 4 114392393 [A/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs6842886 4 114392629 [A/G] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs2158196 4 114416596 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs11098193 4 114429407 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D EXON Silent,Silent,Silent,Silent,Silent,Synonymous_S334S newrs148603207 4 114430793 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs17630012 4 114432254 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs6533691 4 114437456 [A/G] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs17531026 4 114439090 [A/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent exm420317 4 114458513 [T/G] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D EXON Missense_D167E,Missense_D167E,Missense_D167E,Missense_D167E,Missense_D167E,Missense_D167E 1KG_4_114469824 4 114469824 [D/I] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D EXON rs17592440 4 114472402 [A/G] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs11728021 4 114478653 [A/G] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs7665102 4 114505498 [A/G] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs7681248 4 114520105 [A/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs10488958 4 114534723 [A/G] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs6826859 4 114543214 [A/G] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs10000775 4 114546689 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs916913 4 114548301 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs1468248 4 114551521 [T/G] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs17630730 4 114551579 [A/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs2189363 4 114555661 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs17593100 4 114569517 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs12506881 4 114572090 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs6845568 4 114581207 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs2107172 4 114585800 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs6827138 4 114594271 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent exm2264100 4 114611948 [A/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs6533711 4 114626186 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs6842343 4 114626620 [A/G] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs2107170 4 114635044 [T/G] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs9993234 4 114635433 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs17636449 4 114653664 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs6812422 4 114671843 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs17593614 4 114674498 [A/G] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs10006113 4 114678642 [A/G] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs10018022 4 114678786 [T/C] NM_001221,NM_172127,NM_172128,NM_172115,NM_172114,NM_172129 CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D,CAMK2D Silent,Silent,Silent,Silent,Silent,Silent rs7676980 4 114692396 [T/C] rs1557815 4 114696373 [A/G] rs1476569 4 114698696 [A/G] rs7662446 4 114702819 [A/G] rs13134836 4 114709273 [T/C] rs11731601 4 114710145 [A/G] rs1081010 4 114732529 [A/G] rs7699538 4 114741276 [A/G] rs7659107 4 114742249 [A/G] rs11730230 4 114742637 [T/C] exm2256292 4 114745606 [A/G] rs4345183 4 114748150 [T/C] rs7684832 4 114751650 [A/G] rs9918007 4 114752809 [T/C] rs4834359 4 114762343 [A/G] rs6836841 4 114768317 [A/G] rs13142831 4 114797011 [A/C] rs13136741 4 114803632 [T/C] rs7674158 4 114816474 [T/C] variant.82543 4 114823460 [T/C] NM_024590 ARSJ EXON Synonymous_S590S indel.82545 4 114823493 [I/D] NM_024590 ARSJ EXON exm420341 4 114823535 [C/G] NM_024590 ARSJ EXON Missense_S565R exm420343 4 114823590 [T/C] NM_024590 ARSJ EXON Missense_N547S exm420349 4 114823690 [T/C] NM_024590 ARSJ EXON Missense_G514R exm420350 4 114823698 [T/C] NM_024590 ARSJ EXON Missense_R511K exm420352 4 114823753 [T/C] NM_024590 ARSJ EXON Missense_V493I exm420353 4 114823791 [T/C] NM_024590 ARSJ EXON Nonsense_W480X exm420356 4 114823986 [T/C] NM_024590 ARSJ EXON Missense_R415Q exm420357 4 114824011 [T/C] NM_024590 ARSJ EXON Missense_I407V exm420363 4 114824256 [A/G] NM_024590 ARSJ EXON Missense_S325F exm420369 4 114824392 [C/G] NM_024590 ARSJ EXON Missense_E280Q indel.82548 4 114824418 [D/I] NM_024590 ARSJ EXON exm420377 4 114824710 [T/C] NM_024590 ARSJ EXON Missense_V174I rs6822455 4 114830955 [T/C] NM_024590 ARSJ Silent rs6533729 4 114833290 [A/G] NM_024590 ARSJ Silent rs6834673 4 114837989 [A/G] NM_024590 ARSJ Silent rs2374196 4 114854312 [T/C] NM_024590 ARSJ Silent rs7437812 4 114855353 [T/G] NM_024590 ARSJ Silent exm-rs7679911 4 114863593 [G/C] NM_024590 ARSJ Silent rs766183 4 114864332 [T/C] NM_024590 ARSJ Silent rs11098213 4 114867878 [T/G] NM_024590 ARSJ Silent rs2374219 4 114885155 [T/C] NM_024590 ARSJ Silent rs12505253 4 114898691 [A/C] NM_024590 ARSJ Silent rs17677630 4 114905001 [T/G] rs17581675 4 114914110 [A/G] rs4833439 4 114938478 [A/G] rs6533743 4 114957205 [A/G] rs10020382 4 114985792 [T/C] rs6835349 4 115005026 [T/C] rs17046808 4 115013043 [T/C] rs10023031 4 115030276 [T/C] rs7340953 4 115041483 [A/G] rs1112496 4 115075724 [A/G] rs1909020 4 115091159 [T/C] rs6851287 4 115101499 [T/C] rs1497597 4 115137619 [A/G] rs1497595 4 115146328 [T/C] rs11732278 4 115147720 [A/G] rs11944255 4 115149454 [A/G] rs1603622 4 115161980 [A/G] rs2646653 4 115163958 [T/C] rs2725520 4 115167948 [A/C] rs9998695 4 115172667 [T/C] exm2265747 4 115192659 [A/G] rs13134083 4 115196903 [A/G] rs11947200 4 115199110 [T/C] rs9790620 4 115223284 [A/C] rs4597902 4 115227215 [T/G] rs12644990 4 115239529 [A/G] rs12498367 4 115240188 [A/G] rs11098233 4 115242791 [T/G] rs4444907 4 115253765 [T/G] rs10516601 4 115255278 [A/G] rs2353563 4 115264835 [A/G] rs4418044 4 115264948 [T/C] rs7667542 4 115271601 [T/G] rs4834400 4 115299073 [A/G] rs4834403 4 115318983 [A/G] rs10857025 4 115327659 [T/C] exm2269958 4 115327659 [T/C] rs13120563 4 115339308 [T/C] rs1841432 4 115359532 [T/C] rs1460775 4 115368816 [T/C] rs7660554 4 115374527 [A/G] rs2388996 4 115385540 [T/C] rs4833457 4 115412047 [A/G] rs6839599 4 115415910 [A/G] rs2100782 4 115451608 [A/G] rs11938586 4 115458057 [T/C] rs1903364 4 115462264 [T/C] rs11098258 4 115485684 [A/G] rs12650546 4 115499674 [T/C] kgp9886213 4 115519620 [T/G] NM_001128174 UGT8 EXON Silent rs4130705 4 115530635 [A/G] NM_001128174 UGT8 Silent exm420400 4 115544112 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_V26M,Missense_V26M exm420402 4 115544164 [T/C] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_S43L,Missense_S43L 1KG_4_115544168 4 115544168 [I/D] NM_001128174,NM_003360 UGT8,UGT8 EXON exm2064354 4 115544175 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_E47K,Missense_E47K exm420408 4 115544355 [C/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_L107V,Missense_L107V exm420410 4 115544472 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_V146M,Missense_V146M exm420412 4 115544490 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_G152R,Missense_G152R kgp3265107 4 115544654 [T/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Synonymous_G206G,Synonymous_G206G variant.82550 4 115544682 [T/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Nonsense_E216X,Nonsense_E216X rs6851610 4 115544714 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Synonymous_P226P,Synonymous_P226P exm420424 4 115544757 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_M241V,Missense_M241V rs4148255 4 115544777 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Synonymous_A247A,Synonymous_A247A variant.82551 4 115544858 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Synonymous_E274E,Synonymous_E274E kgp1489278 4 115577997 [G/C] NM_001128174,NM_003360,NR_030303 UGT8,UGT8,MIR577 EXON Silent,Silent,Silent exm420430 4 115585236 [T/A] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_D303V,Missense_D303V exm420436 4 115589302 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_I368M,Missense_I368M rs11098261 4 115589302 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_I368M,Missense_I368M exm420441 4 115589441 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_K415E,Missense_K415E rs7686301 4 115596092 [A/G] NM_001128174,NM_003360 UGT8,UGT8 Silent,Silent exm420448 4 115597329 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Missense_K504R,Missense_K504R kgp20713320 4 115597453 [T/C] NM_001128174,NM_003360 UGT8,UGT8 EXON Silent,Silent rs9996273 4 115597453 [T/C] NM_001128174,NM_003360 UGT8,UGT8 EXON Silent,Silent kgp21198130 4 115597746 [A/G] NM_001128174,NM_003360 UGT8,UGT8 EXON Silent,Silent kgp3047504 4 115598095 [T/C] NM_001128174,NM_003360 UGT8,UGT8 EXON Silent,Silent rs4834428 4 115605064 [A/G] rs6843689 4 115636783 [A/G] exm-rs4269197 4 115638209 [T/G] rs4269197 4 115638209 [T/G] rs7700052 4 115656533 [A/G] rs4286532 4 115672966 [A/C] rs11723161 4 115688354 [T/C] rs4508906 4 115692870 [A/G] rs10019763 4 115701304 [T/C] rs4574434 4 115739428 [T/C] rs6843860 4 115749005 [T/C] NM_022569 NDST4 EXON Synonymous_S862S exm420467 4 115751002 [T/C] NM_022569 NDST4 EXON Missense_K815E rs12648047 4 115751064 [T/C] NM_022569 NDST4 Silent exm420470 4 115754786 [T/C] NM_022569 NDST4 EXON Missense_R791H exm420471 4 115754831 [A/G] NM_022569 NDST4 EXON Missense_A776V exm420479 4 115767013 [A/G] NM_022569 NDST4 EXON Missense_I694T variant.82553 4 115767059 [A/G] NM_022569 NDST4 EXON Nonsense_R679X exm420481 4 115767094 [T/C] NM_022569 NDST4 EXON Missense_S667N exm420487 4 115769450 [T/C] NM_022569 NDST4 EXON Missense_I621V exm2064390 4 115769485 [A/G] NM_022569 NDST4 EXON Missense_A609V newrs137934717 4 115791968 [A/G] NM_022569 NDST4 EXON Nonsense_Q559X exm420494 4 115792021 [T/C] NM_022569 NDST4 EXON Missense_Q541R exm420495 4 115792029 [C/G] NM_022569 NDST4 EXON Missense_N538K exm420496 4 115792033 [A/C] NM_022569 NDST4 EXON Missense_V537G exm420497 4 115792043 [T/C] NM_022569 NDST4 EXON Missense_V534M rs11938588 4 115813013 [A/G] NM_022569 NDST4 Silent rs11945934 4 115823991 [T/G] NM_022569 NDST4 Silent rs7675371 4 115829919 [A/G] NM_022569 NDST4 Silent rs11939954 4 115844634 [T/C] NM_022569 NDST4 Silent exm420507 4 115856444 [T/C] NM_022569 NDST4 EXON Missense_Y485C rs1020219 4 115858331 [A/C] NM_022569 NDST4 Silent exm420510 4 115858577 [A/G] NM_022569 NDST4 EXON Missense_A435V rs2018486 4 115876042 [A/G] NM_022569 NDST4 Silent exm420516 4 115891633 [C/G] NM_022569 NDST4 EXON Missense_E392Q rs6820993 4 115897055 [T/G] NM_022569 NDST4 Silent exm420520 4 115898352 [A/G] NM_022569 NDST4 EXON Missense_Y353H exm420521 4 115898360 [C/G] NM_022569 NDST4 EXON Missense_G350A rs4082347 4 115919123 [A/G] NM_022569 NDST4 Silent rs2583515 4 115920956 [A/G] NM_022569 NDST4 Silent rs6856543 4 115939416 [A/C] NM_022569 NDST4 Silent rs979513 4 115952955 [T/C] NM_022569 NDST4 Silent rs1552025 4 115955380 [A/G] NM_022569 NDST4 Silent rs499218 4 115974708 [A/G] NM_022569 NDST4 Silent rs517231 4 115995542 [A/G] NM_022569 NDST4 Silent rs541329 4 115995713 [T/C] NM_022569 NDST4 Silent rs509127 4 115996988 [T/C] NM_022569 NDST4 Silent exm420528 4 115997246 [T/A] NM_022569 NDST4 EXON Missense_E316V variant.82556 4 115997601 [A/G] NM_022569 NDST4 EXON Nonsense_Q198X exm420539 4 115997612 [A/C] NM_022569 NDST4 EXON Missense_F194C exm420544 4 115997847 [A/C] NM_022569 NDST4 EXON Missense_D116Y exm420545 4 115997943 [T/C] NM_022569 NDST4 EXON Missense_V84M exm420548 4 115997968 [T/G] NM_022569 NDST4 EXON Missense_K75N exm420553 4 115998083 [T/C] NM_022569 NDST4 EXON Missense_Y37C exm420555 4 115998124 [G/C] NM_022569 NDST4 EXON Missense_L23F exm420556 4 115998150 [T/C] NM_022569 NDST4 EXON Missense_I15V exm420558 4 115998158 [T/C] NM_022569 NDST4 EXON Missense_R12Q rs13104877 4 116007803 [A/G] NM_022569 NDST4 Silent rs505277 4 116028808 [T/C] NM_022569 NDST4 Silent rs13105185 4 116032339 [A/C] NM_022569 NDST4 Silent exm2264065 4 116044411 [A/C] rs7681396 4 116074054 [A/G] rs7678790 4 116091803 [T/C] rs4834457 4 116099668 [A/G] rs1960049 4 116130120 [A/G] rs11946458 4 116143319 [A/C] rs2048163 4 116164027 [T/C] rs13150807 4 116173928 [T/C] rs11727958 4 116243567 [T/C] rs12651062 4 116279442 [A/G] rs10000358 4 116283010 [A/G] rs7437820 4 116291436 [A/G] rs4834476 4 116316085 [T/C] rs6533871 4 116319080 [T/C] kgp2321246 4 116319267 [T/G] rs12508013 4 116375611 [A/G] rs13131555 4 116377844 [A/G] rs6850894 4 116378717 [T/C] rs12509776 4 116389374 [T/C] rs10026917 4 116395664 [T/C] rs7668500 4 116406659 [A/G] rs13129771 4 116411907 [A/G] rs6533922 4 116421669 [A/G] rs7435768 4 116426581 [T/C] rs7438394 4 116432420 [T/C] rs4522939 4 116464839 [T/C] rs4292399 4 116490478 [T/C] exm2269824 4 116490478 [T/C] rs7664444 4 116527361 [T/G] rs11098314 4 116529968 [T/C] rs1545763 4 116530435 [A/G] exm2261589 4 116547100 [T/C] rs10002695 4 116560690 [A/C] rs11942806 4 116612109 [A/G] rs10017879 4 116658800 [A/G] rs10029219 4 116667561 [A/C] rs7677410 4 116684526 [T/C] rs10516621 4 116718238 [A/G] rs1013411 4 116727973 [A/C] rs1549805 4 116766626 [T/G] rs13151706 4 116769746 [A/G] rs9999955 4 116786795 [T/C] exm2269825 4 116804645 [T/C] rs1430934 4 116804645 [T/C] rs11098326 4 116844501 [T/G] rs1025397 4 116848573 [T/C] rs9307416 4 116862170 [A/G] rs6824665 4 116880079 [A/G] rs1456365 4 116889740 [T/C] rs17502284 4 116895632 [A/G] rs7669751 4 116908711 [A/G] rs11098331 4 116916813 [A/G] rs6854280 4 116942805 [A/G] rs814382 4 116986729 [T/C] rs814397 4 116999572 [T/C] rs701779 4 117017017 [A/G] rs701793 4 117042009 [T/C] rs13108295 4 117055445 [T/C] rs1506732 4 117078327 [A/G] rs2048062 4 117092230 [T/C] P1_M_061510_4_341_M 4 117095295 [D/I] rs6856663 4 117106216 [A/G] exm2269960 4 117151215 [T/C] rs10013632 4 117153619 [A/G] rs1965299 4 117159811 [T/C] kgp9586386 4 117160383 [T/C] rs1387218 4 117163200 [T/G] rs7654510 4 117219559 [A/G] rs6821696 4 117226309 [A/G] rs10428494 4 117227330 [T/C] rs1489001 4 117245430 [T/C] exm-rs2389202 4 117254289 [A/T] rs1906699 4 117257732 [T/G] rs1873103 4 117262160 [A/G] rs1489012 4 117272840 [T/C] rs7675851 4 117300599 [A/G] kgp20826915 4 117301183 [T/C] kgp21160965 4 117303818 [T/C] rs6533974 4 117374128 [A/G] rs970943 4 117379825 [A/G] rs6826566 4 117387380 [A/G] rs6533976 4 117401394 [T/C] rs6849811 4 117406228 [A/C] rs7697881 4 117407113 [A/G] rs7663989 4 117412778 [T/C] rs11942266 4 117414663 [A/G] rs10222978 4 117426252 [T/C] rs2042651 4 117449878 [A/G] rs7661211 4 117463727 [A/G] rs10024264 4 117468423 [A/G] rs4557348 4 117525693 [A/G] rs4560484 4 117543972 [A/C] rs10005909 4 117552737 [T/G] exm2265748 4 117553092 [A/G] rs10007743 4 117558365 [A/G] rs13124273 4 117568631 [T/C] rs4415029 4 117569267 [T/C] rs4640736 4 117569522 [T/C] rs13118630 4 117585086 [A/G] rs12507901 4 117597044 [A/G] rs4130340 4 117612897 [A/G] rs4077692 4 117623903 [A/G] rs7654840 4 117626118 [A/G] rs7659215 4 117630240 [T/G] rs7682047 4 117630678 [T/C] rs13107698 4 117636735 [T/C] rs1500818 4 117653901 [A/G] rs6814762 4 117665686 [T/C] rs1604230 4 117683039 [T/C] rs7675219 4 117689811 [A/C] rs12649281 4 117715353 [T/G] rs10009620 4 117724087 [T/C] rs4834589 4 117743263 [A/G] rs17048841 4 117744350 [T/C] rs1392764 4 117761449 [A/G] rs6856485 4 117763136 [A/G] rs10033111 4 117772331 [A/G] rs1875303 4 117780360 [T/G] rs7668517 4 117783592 [A/G] rs9684450 4 117785317 [T/G] rs12505094 4 117795282 [T/C] rs2389247 4 117799718 [T/C] exm2269826 4 117800441 [T/C] rs17505738 4 117802073 [A/G] rs11098362 4 117803266 [T/C] rs10516632 4 117830724 [T/G] rs11940805 4 117832770 [A/G] rs1440312 4 117836020 [T/C] rs17505791 4 117844745 [T/C] rs979961 4 117850456 [T/C] rs1822050 4 117856960 [A/C] rs11941869 4 117863273 [A/G] rs4834599 4 117863537 [T/C] rs717904 4 117868882 [A/G] rs12506385 4 117879013 [A/G] rs12331356 4 117885030 [T/G] rs1440304 4 117888361 [T/C] rs13109536 4 117897658 [A/G] rs7697486 4 117912395 [T/C] rs17690630 4 117927811 [T/C] rs10006459 4 117928931 [A/C] rs12649613 4 117946646 [A/G] rs11098370 4 117950600 [T/C] rs1899071 4 117953708 [A/G] rs298924 4 117961014 [A/C] rs298928 4 117964138 [T/C] rs11098373 4 117976279 [T/C] rs2196715 4 117993779 [A/G] exm420563 4 118005474 [T/G] NM_152402 TRAM1L1 EXON Missense_D359A indel.82558 4 118005752 [I/D] NM_152402 TRAM1L1 EXON exm420578 4 118005853 [A/C] NM_152402 TRAM1L1 EXON Missense_S233A indel.82559 4 118005979 [I/D] NM_152402 TRAM1L1 EXON exm420591 4 118006170 [A/G] NM_152402 TRAM1L1 EXON Missense_V127A exm420608 4 118006488 [T/C] NM_152402 TRAM1L1 EXON Missense_Q21R rs3943702 4 118020477 [T/C] rs1438217 4 118039852 [T/C] rs11933950 4 118043617 [T/C] rs12504828 4 118078654 [A/G] rs10516635 4 118079907 [A/G] rs12644587 4 118081229 [T/C] exm-rs10433903 4 118093137 [T/C] rs1438220 4 118109122 [A/G] rs10022128 4 118122688 [A/G] rs4498198 4 118135356 [T/C] rs4535398 4 118145893 [A/G] rs9999009 4 118157777 [A/G] rs13147087 4 118164717 [T/C] rs6534029 4 118185220 [T/C] exm2269961 4 118204404 [T/G] rs11930731 4 118208216 [A/G] rs6853512 4 118218045 [T/C] rs4288072 4 118218487 [T/C] rs13137355 4 118235444 [A/G] rs4074599 4 118246863 [A/G] rs7441935 4 118257841 [T/C] rs4409028 4 118276666 [A/C] rs17869354 4 118279439 [A/G] rs13138792 4 118281116 [T/C] rs11723116 4 118281370 [A/G] rs7695817 4 118306228 [T/G] rs13113229 4 118309390 [A/G] rs17861866 4 118325168 [T/C] rs6851671 4 118327461 [A/G] exm-rs4318720 4 118332255 [A/G] rs6534034 4 118340767 [T/C] rs6812138 4 118353315 [A/G] rs17861918 4 118362073 [T/C] rs4282258 4 118376267 [A/G] rs17861942 4 118376553 [T/G] rs12651122 4 118396886 [A/C] rs12510650 4 118402189 [T/G] rs6852609 4 118413749 [T/G] rs10006777 4 118435901 [T/C] rs6829877 4 118445839 [T/C] rs17866755 4 118450767 [A/G] rs1948245 4 118454987 [T/C] rs2635252 4 118472730 [T/G] rs1948220 4 118473924 [T/C] rs1948226 4 118486543 [A/G] rs2389380 4 118497403 [A/G] rs2245104 4 118497883 [T/C] rs13129382 4 118505637 [T/C] rs6850876 4 118510812 [A/G] rs17863870 4 118512999 [T/G] rs13135130 4 118513265 [A/G] rs2635295 4 118532328 [T/C] rs923441 4 118544344 [T/C] rs1948250 4 118551128 [T/C] rs2247756 4 118556306 [A/C] rs7699563 4 118558928 [A/C] rs6818184 4 118560727 [T/C] rs2635304 4 118560782 [T/C] rs2635199 4 118567841 [T/G] rs2389381 4 118587270 [A/C] rs1459545 4 118599194 [A/C] rs4834632 4 118608250 [A/G] rs10011738 4 118617008 [T/C] rs7681998 4 118635598 [T/G] rs6834486 4 118638662 [A/C] rs10009424 4 118641047 [T/G] rs11098403 4 118646907 [A/G] rs11562926 4 118650042 [T/C] exm-rs4422476 4 118651823 [T/C] rs7678262 4 118663416 [A/G] rs11945758 4 118667234 [T/G] rs11562835 4 118667520 [A/G] kgp4500920 4 118670499 [T/C] rs11562865 4 118727351 [A/G] rs994619 4 118731430 [T/C] rs11562869 4 118738469 [A/G] rs4597906 4 118758795 [T/C] rs6813598 4 118760390 [T/G] rs4580714 4 118777687 [A/G] rs7696793 4 118789715 [T/C] rs4131119 4 118802784 [A/G] rs6534063 4 118803489 [A/G] rs4543205 4 118820791 [A/C] rs6834344 4 118851421 [A/G] rs6534066 4 118870933 [A/G] rs11098416 4 118891359 [A/G] rs6813909 4 118899646 [T/C] rs2389489 4 118941387 [T/C] exm2269828 4 118952126 [T/C] rs10857057 4 118963085 [A/G] NM_004784 NDST3 Silent exm420622 4 118975076 [T/C] NM_004784 NDST3 EXON Missense_I4T exm420628 4 118975214 [T/C] NM_004784 NDST3 EXON Missense_V50A exm420633 4 118975269 [A/G] NM_004784 NDST3 EXON Missense_M68I exm2064445 4 118975427 [T/C] NM_004784 NDST3 EXON Missense_I121T var_4_118975504 4 118975504 [T/C] NM_004784 NDST3 EXON Nonsense_R147X exm420643 4 118975586 [A/G] NM_004784 NDST3 EXON Missense_S174N rs2389508 4 118985104 [T/C] NM_004784 NDST3 Silent rs4428355 4 119020848 [A/G] NM_004784 NDST3 Silent exm420663 4 119036008 [A/G] NM_004784 NDST3 EXON Missense_D373N exm420667 4 119036106 [A/C] NM_004784 NDST3 EXON Missense_K405N rs4833561 4 119047274 [A/G] NM_004784 NDST3 Silent exm420673 4 119059317 [A/G] NM_004784 NDST3 EXON Missense_K445E rs6853879 4 119072862 [A/G] NM_004784 NDST3 Silent rs6842491 4 119075936 [A/G] NM_004784 NDST3 Silent rs11947911 4 119091089 [T/C] NM_004784 NDST3 Silent rs12505156 4 119115366 [A/G] NM_004784 NDST3 Silent rs2892800 4 119134308 [T/C] NM_004784 NDST3 Silent rs2204269 4 119142770 [T/G] NM_004784 NDST3 Silent newrs144543137 4 119145688 [T/C] NM_004784 NDST3 EXON Nonsense_R528X exm420684 4 119145749 [A/G] NM_004784 NDST3 EXON Missense_R548Q rs788663 4 119155229 [T/C] NM_004784 NDST3 Silent exm420700 4 119163267 [A/G] NM_004784 NDST3 EXON Missense_G788R exm420704 4 119174695 [A/C] NM_004784 NDST3 EXON Missense_E814A rs1573955 4 119199879 [T/G] exm420719 4 119203216 [T/C] NM_003619 PRSS12 EXON Missense_G835R exm420720 4 119203221 [T/C] NM_003619 PRSS12 EXON Missense_R833Q exm2256301 4 119203259 [A/G] NM_003619 PRSS12 EXON Synonymous_S820S exm420728 4 119203330 [A/G] NM_003619 PRSS12 EXON Missense_R797C variant.82566 4 119203396 [A/G] NM_003619 PRSS12 EXON Nonsense_R775X rs11098432 4 119203708 [A/C] NM_003619 PRSS12 Silent exm420731 4 119203985 [T/C] NM_003619 PRSS12 Silent indel.82568 4 119204073 [D/I] NM_003619 PRSS12 EXON exm420733 4 119204127 [T/C] NM_003619 PRSS12 EXON Missense_I727V exm2276864 4 119204131 [A/G] NM_003619 PRSS12 EXON Synonymous_Y725Y exm2276865 4 119204190 [A/C] NM_003619 PRSS12 EXON Nonsense_E706X exm2256302 4 119204218 [A/G] NM_003619 PRSS12 EXON Synonymous_H696H exm420736 4 119204218 [A/G] NM_003619 PRSS12 EXON Synonymous_H696H rs4833571 4 119204720 [A/C] NM_003619 PRSS12 Silent exm420741 4 119216099 [G/C] NM_003619 PRSS12 EXON Missense_F678L exm420750 4 119219909 [A/C] NM_003619 PRSS12 EXON Missense_A606S exm420758 4 119220085 [T/G] NM_003619 PRSS12 EXON Missense_A547D rs11730327 4 119228883 [T/C] NM_003619 PRSS12 Silent exm420760 4 119229592 [T/C] NM_003619 PRSS12 EXON Missense_K544E exm420772 4 119234413 [A/G] NM_003619 PRSS12 EXON Missense_R478C exm420780 4 119237359 [T/C] NM_003619 PRSS12 EXON Missense_V424I newrs149455950 4 119239531 [A/G] NM_003619 PRSS12 Silent variant.82573 4 119239689 [A/G] NM_003619 PRSS12 EXON Nonsense_Q332X rs4834678 4 119240618 [T/C] NM_003619 PRSS12 Silent indel.82574 4 119252937 [D/I] NM_003619 PRSS12 EXON exm420797 4 119253022 [T/C] NM_003619 PRSS12 Silent exm2064531 4 119256730 [A/G] NM_003619 PRSS12 EXON Nonsense_R240X variant.82576 4 119259329 [A/C] NM_003619 PRSS12 Silent exm420822 4 119259449 [T/C] NM_003619 PRSS12 EXON Missense_G175S variant.82577 4 119259461 [A/G] NM_003619 PRSS12 EXON Nonsense_R171X rs7674055 4 119272958 [T/C] NM_003619 PRSS12 Silent exm420828 4 119273436 [A/G] NM_003619 PRSS12 EXON Missense_P147L exm420840 4 119273839 [T/C] NM_003619 PRSS12 EXON Missense_G13R exm420841 4 119273848 [C/G] NM_003619 PRSS12 EXON Missense_L10V rs1514657 4 119279098 [T/C] exm2265864 4 119302960 [A/G] rs12498329 4 119311524 [T/C] rs1818521 4 119322004 [T/C] rs12504468 4 119322322 [A/G] rs10518293 4 119331363 [A/G] rs6811485 4 119337263 [A/G] rs2631108 4 119371173 [A/G] rs4834691 4 119398282 [T/C] rs10021843 4 119407189 [T/C] exm2269829 4 119407189 [T/C] rs2035600 4 119437972 [A/G] NR_003135 CEP170P1 Silent rs17595265 4 119455055 [A/G] NR_003135 CEP170P1 Silent rs2200517 4 119462685 [T/C] NR_003135 CEP170P1 Silent rs7689541 4 119506139 [A/G] rs7669896 4 119510402 [A/G] rs10022024 4 119511022 [T/G] kgp3224108 4 119552849 [T/C] rs299005 4 119595364 [A/G] rs298980 4 119607376 [T/C] NM_020961 METTL14 Silent exm420854 4 119609096 [T/G] NM_020961 METTL14 EXON Missense_D29Y indel.82582 4 119610535 [D/I] NM_020961 METTL14 EXON exm420859 4 119610560 [A/G] NM_020961 METTL14 EXON Missense_R64H exm420872 4 119621750 [A/G] NM_020961 METTL14 EXON Missense_I231V rs6813357 4 119624641 [T/G] NM_020961 METTL14 Silent indel.82583 4 119625203 [I/D] NM_020961 METTL14 EXON rs441216 4 119630402 [A/G] NM_020961 METTL14 Silent exm420884 4 119631380 [A/T] NM_020961 METTL14 EXON Missense_S432T rs298988 4 119648399 [A/G] NM_014822 SEC24D Silent rs960738 4 119651565 [T/C] NM_014822 SEC24D Silent exm2275768 4 119652555 [A/G] NM_014822 SEC24D EXON Synonymous_F928F exm420895 4 119652563 [A/G] NM_014822 SEC24D EXON Missense_H926Y exm2256304 4 119652606 [T/G] NM_014822 SEC24D EXON Synonymous_S911S exm420899 4 119652658 [A/G] NM_014822 SEC24D EXON Missense_T894M exm420905 4 119654028 [T/C] NM_014822 SEC24D EXON Missense_M846V exm420906 4 119654036 [A/G] NM_014822 SEC24D EXON Missense_P843L rs12509236 4 119655888 [T/C] NM_014822 SEC24D Silent exm420909 4 119659496 [A/G] NM_014822 SEC24D EXON Missense_R806W exm420915 4 119660436 [T/C] NM_014822 SEC24D EXON Missense_V749M exm420919 4 119661921 [T/G] NM_014822 SEC24D EXON Missense_N712T exm420940 4 119673889 [A/G] NM_014822 SEC24D EXON Missense_L526F rs6827740 4 119675900 [T/C] NM_014822 SEC24D Silent rs4340779 4 119678580 [T/G] NM_014822 SEC24D Silent exm420954 4 119686052 [A/G] NM_014822 SEC24D EXON Missense_H401Y exm420968 4 119718941 [T/C] NM_014822 SEC24D EXON Missense_R313H exm420976 4 119727089 [A/C] NM_014822 SEC24D EXON Missense_D274E rs4834706 4 119733366 [T/C] NM_014822 SEC24D Silent exm420981 4 119736284 [T/C] NM_014822 SEC24D EXON Missense_A234T exm420983 4 119736607 [T/C] NM_014822 SEC24D EXON Synonymous_Q224Q exm420988 4 119736659 [T/C] NM_014822 SEC24D EXON Missense_Q207R exm420990 4 119736701 [A/G] NM_014822 SEC24D EXON Missense_P193L rs6843239 4 119743682 [T/C] NM_014822 SEC24D Silent exm421006 4 119745814 [A/C] NM_014822 SEC24D EXON Missense_G70V exm421007 4 119745842 [T/G] NM_014822 SEC24D EXON Missense_P61T exm421014 4 119745884 [A/G] NM_014822 SEC24D EXON Missense_P47S exm421016 4 119745898 [A/G] NM_014822 SEC24D EXON Missense_M42T exm421020 4 119754766 [T/C] NM_014822 SEC24D EXON Missense_Y29C rs11730732 4 119761678 [A/G] rs2162400 4 119762951 [T/G] rs10019751 4 119770915 [T/C] rs10857061 4 119781338 [T/C] rs2114461 4 119785381 [T/G] rs2389655 4 119789448 [T/C] rs7679385 4 119790013 [A/G] rs7690236 4 119800779 [T/C] rs28465250 4 119809572 [A/G] rs6831957 4 119817622 [A/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs12506322 4 119831193 [A/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs736965 4 119833292 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs7676506 4 119835148 [T/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs2162398 4 119844851 [A/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs1565475 4 119860592 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs4834729 4 119865067 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs1021377 4 119867342 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs12508843 4 119877794 [T/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs10518316 4 119883564 [A/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs1490510 4 119886179 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs1038771 4 119890772 [A/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs6855192 4 119892879 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs9307465 4 119896331 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs17050196 4 119896633 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs4833599 4 119902065 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs4834733 4 119907402 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs17328610 4 119913577 [A/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs2061443 4 119914670 [A/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs1994630 4 119927268 [A/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent rs1459056 4 119941399 [T/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent exm2265865 4 119943328 [A/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent exm2256305 4 119947135 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent indel.82589 4 119947850 [I/D] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON exm2064612 4 119947922 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_L133P,Missense_L133P,Missense_L133P exm421042 4 119948046 [A/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_Q174H,Missense_Q174H,Missense_Q174H exm421046 4 119948059 [A/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_A179T,Missense_A179T,Missense_A179T exm421052 4 119948170 [A/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_V216M,Missense_V216M,Missense_V216M exm421063 4 119948504 [C/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_A327G,Missense_A327G,Missense_A327G exm421064 4 119948506 [A/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_V328I,Missense_V328I,Missense_V328I rs2045547 4 119950186 [A/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 Silent,Silent,Silent var_4_119951254 4 119951254 [T/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Nonsense_E442X,Nonsense_E442X,Nonsense_E442X exm2274046 4 119951510 [A/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_T527N,Missense_T527N,Missense_T527N exm421089 4 119951524 [A/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_T532A,Missense_T532A,Missense_T532A exm421092 4 119951647 [A/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_T573A,Missense_T573A,Missense_T573A exm421095 4 119951735 [G/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_P602R,Missense_P602R,Missense_P602R exm421097 4 119951786 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_P619L,Missense_P619L,Missense_P619L exm421098 4 119951812 [A/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_P628T,Missense_P628T,Missense_P628T exm421099 4 119951813 [A/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_P628H,Missense_P628H,Missense_P628H exm421101 4 119951821 [T/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_A631S,Missense_A631S,Missense_A631S exm421106 4 119951959 [A/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_P677T,Missense_P677T,Missense_P677T exm421111 4 119952100 [A/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_G724R,Missense_G724R,Missense_G724R exm421112 4 119952134 [A/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_Y735C,Missense_Y735C,Missense_Y735C indel.82593 4 119952260 [D/I] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON exm421128 4 119952589 [A/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_V887M,Missense_V887M,Missense_V887M exm421129 4 119952605 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_T892M,Missense_T892M,Missense_T892M exm421130 4 119952620 [G/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_A897G,Missense_A897G,Missense_A897G exm421133 4 119952694 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_P922S,Missense_P922S,Missense_P922S exm421136 4 119952719 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_S930L,Missense_S930L,Missense_S930L exm2064639 4 119952881 [G/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_A984G,Missense_A984G,Missense_A984G exm421141 4 119952887 [A/G] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_D986G,Missense_D986G,Missense_D986G exm421147 4 119952955 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Missense_R1009W,Missense_R1009W,Missense_R1009W exm2064644 4 119953186 [T/C] NM_001128934,NM_133477,NM_001128933 SYNPO2,SYNPO2,SYNPO2 EXON Silent,Silent,Missense_W1086R rs10518313 4 119962741 [A/G] NM_133477 SYNPO2 Silent rs9784534 4 119963646 [A/C] NM_133477 SYNPO2 Silent rs12506805 4 119974540 [T/C] NM_133477 SYNPO2 Silent exm421166 4 119978601 [G/C] NM_133477 SYNPO2 EXON Missense_P1100A exm2064648 4 119978776 [T/C] NM_133477 SYNPO2 EXON Missense_A1158V exm421175 4 119978796 [T/C] NM_133477 SYNPO2 EXON Missense_R1165W exm421182 4 119978868 [A/G] NM_133477 SYNPO2 EXON Missense_A1189T exm2064654 4 119978923 [T/C] NM_133477 SYNPO2 EXON Missense_M1207T exm421187 4 119979001 [T/C] NM_133477 SYNPO2 EXON Missense_M1233T exm421189 4 119979058 [T/C] NM_133477 SYNPO2 EXON Missense_P1252L rs17050125 4 119980501 [T/G] NM_133477 SYNPO2 EXON Silent rs1058450 4 119980640 [T/C] NM_133477 SYNPO2 EXON Silent rs17050116 4 119981296 [A/G] NM_133477 SYNPO2 EXON Silent rs4438744 4 119992822 [A/G] rs6837925 4 119994350 [T/C] rs2219497 4 120005814 [A/G] rs7670862 4 120008569 [T/C] rs10857064 4 120009168 [A/G] rs11729054 4 120013157 [T/C] rs11098484 4 120018082 [A/C] rs4261975 4 120025002 [T/C] rs10029388 4 120029841 [A/G] rs2168987 4 120043874 [T/C] rs11934309 4 120045740 [T/C] rs9307468 4 120048884 [A/G] rs4834752 4 120055799 [T/G] rs1459055 4 120056815 [A/G] exm421193 4 120057709 [A/C] NM_016599 MYOZ2 EXON Missense_Q10P exm2256307 4 120057719 [A/G] NM_016599 MYOZ2 EXON Synonymous_Q13Q rs7694500 4 120063715 [T/C] NM_016599 MYOZ2 Silent rs6844238 4 120067703 [A/G] NM_016599 MYOZ2 Silent exm421198 4 120072096 [A/G] NM_016599 MYOZ2 EXON Missense_H49R rs7669431 4 120077220 [A/G] NM_016599 MYOZ2 Silent variant.82597 4 120079273 [T/C] NM_016599 MYOZ2 EXON Nonsense_R115X exm421217 4 120085449 [A/C] NM_016599 MYOZ2 EXON Missense_Q154K exm421220 4 120085468 [T/C] NM_016599 MYOZ2 EXON Missense_P160L exm421222 4 120085477 [T/C] NM_016599 MYOZ2 EXON Missense_L163S variant.82598 4 120085550 [T/G] NM_016599 MYOZ2 Silent exm421229 4 120107298 [A/G] NM_016599 MYOZ2 EXON Missense_I246M rs17049978 4 120112049 [A/G] rs4834762 4 120132690 [T/C] rs6833072 4 120133892 [T/C] NM_019050 USP53 EXON Silent rs10084915 4 120138824 [A/G] NM_019050 USP53 EXON Silent rs951570 4 120150467 [T/C] NM_019050 USP53 Silent rs13113112 4 120156040 [T/C] NM_019050 USP53 Silent exm421242 4 120166520 [A/G] NM_019050 USP53 EXON Missense_R58Q rs7356185 4 120167111 [T/C] NM_019050 USP53 Silent rs13139045 4 120168588 [T/C] NM_019050 USP53 Silent exm421244 4 120169906 [T/A] NM_019050 USP53 EXON Missense_I81L exm421246 4 120169942 [T/C] NM_019050 USP53 EXON Missense_L93F variant.82600 4 120169996 [T/C] NM_019050 USP53 EXON Nonsense_R111X exm421249 4 120170027 [T/C] NM_019050 USP53 EXON Missense_A121V exm2256308 4 120170028 [A/G] NM_019050 USP53 EXON Synonymous_A121A exm421251 4 120177489 [A/G] NM_019050 USP53 EXON Missense_K154R exm2064683 4 120177600 [T/C] NM_019050 USP53 EXON Missense_V164A exm421253 4 120177606 [A/G] NM_019050 USP53 EXON Missense_R166H rs7668423 4 120177708 [T/C] NM_019050 USP53 Silent rs6823331 4 120180790 [T/C] NM_019050 USP53 Silent exm421259 4 120181671 [A/G] NM_019050 USP53 EXON Missense_G229S exm421263 4 120181776 [T/C] NM_019050 USP53 EXON Missense_R264W indel.82603 4 120181806 [D/I] NM_019050 USP53 EXON exm2240362 4 120182915 [A/C] NM_019050 USP53 EXON Missense_N290H rs11098498 4 120187119 [T/C] NM_019050 USP53 Silent rs11098499 4 120187611 [T/C] NM_019050 USP53 Silent variant.82605 4 120188514 [T/C] NM_019050 USP53 EXON Nonsense_R338X var_4_120189531 4 120189531 [A/C] NM_019050 USP53 EXON Nonsense_S415X exm421277 4 120189540 [A/G] NM_019050 USP53 EXON Missense_R418Q exm421286 4 120190983 [T/C] NM_019050 USP53 EXON Nonsense_R476X exm421289 4 120192469 [T/C] NM_019050 USP53 EXON Missense_L485P exm421291 4 120192525 [T/A] NM_019050 USP53 EXON Missense_N504Y variant.82609 4 120192591 [T/C] NM_019050 USP53 EXON Nonsense_R526X exm421297 4 120192664 [T/A] NM_019050 USP53 EXON Missense_V550D exm421298 4 120192676 [A/G] NM_019050 USP53 EXON Missense_N554S exm421300 4 120192717 [T/G] NM_019050 USP53 EXON Missense_D568Y exm421301 4 120192732 [T/G] NM_019050 USP53 EXON Missense_C573G exm2240365 4 120192753 [T/C] NM_019050 USP53 EXON Missense_R580W exm421305 4 120192853 [T/C] NM_019050 USP53 EXON Missense_I613T exm421306 4 120192864 [T/C] NM_019050 USP53 EXON Missense_P617S indel.82611 4 120193010 [I/D] NM_019050 USP53 EXON exm421312 4 120193017 [A/G] NM_019050 USP53 EXON Missense_G668S indel.82612 4 120194861 [I/D] NM_019050 USP53 EXON exm421337 4 120214030 [T/G] NM_019050 USP53 EXON Missense_S962R exm421338 4 120214049 [A/C] NM_019050 USP53 EXON Missense_P969T exm421340 4 120214185 [T/C] NM_019050 USP53 EXON Missense_I1014T indel.82615 4 120214253 [D/I] NM_019050 USP53 EXON exm2064712 4 120214277 [A/G] NM_019050 USP53 EXON Missense_M1045V exm421343 4 120214281 [T/C] NM_019050 USP53 EXON Missense_T1046M indel.82616 4 120214324 [I/D] NM_019050 USP53 EXON indel.82617 4 120221496 [I/D] NM_001170330,NM_001001701 C4orf3,C4orf3 EXON indel.82618 4 120221508 [I/D] NM_001170330,NM_001001701 C4orf3,C4orf3 EXON exm421354 4 120221607 [T/G] NM_001170330,NM_001001701 C4orf3,C4orf3 EXON Missense_F161L,Missense_F28L exm421355 4 120221621 [T/C] NM_001170330,NM_001001701 C4orf3,C4orf3 EXON Missense_G157R,Missense_G24R exm2064719 4 120221666 [G/C] NM_001170330,NM_001001701 C4orf3,C4orf3 EXON Missense_D142H,Missense_D9H rs1397607 4 120231150 [A/G] rs13118936 4 120234402 [A/G] rs11724758 4 120239878 [A/G] NM_000134 FABP2 EXON Silent rs9999724 4 120239944 [T/C] NM_000134 FABP2 EXON Silent exm421368 4 120240720 [A/G] NM_000134 FABP2 EXON Nonsense_R107X newrs151254946 4 120240790 [T/C] NM_000134 FABP2 EXON Nonsense_W83X rs4834770 4 120241849 [A/G] NM_000134 FABP2 EXON Synonymous_N72N rs1799883 4 120241902 [T/C] NM_000134 FABP2 EXON Missense_T55A exm421380 4 120241902 [T/C] NM_000134 FABP2 EXON Missense_T55A exm2064726 4 120241988 [A/G] NM_000134 FABP2 EXON Missense_I26T variant.82624 4 120243191 [T/C] NM_000134 FABP2 EXON Missense_G23S rs9995716 4 120264996 [T/C] rs4834773 4 120277395 [A/G] rs4833618 4 120309500 [T/C] rs6846442 4 120326323 [A/G] rs11098524 4 120390032 [A/G] NR_037630 LOC645513 Silent rs10034623 4 120397829 [A/G] NR_037630 LOC645513 Silent rs13124532 4 120416445 [T/C] NR_037630,NM_033437,NM_001083,NM_033430 LOC645513,PDE5A,PDE5A,PDE5A EXON Silent,Silent,Silent,Silent exm421392 4 120419776 [T/C] NR_037630,NM_033437,NM_001083,NM_033430 LOC645513,PDE5A,PDE5A,PDE5A EXON Silent,Missense_G818S,Missense_G870S,Missense_G828S exm421395 4 120419806 [A/G] NR_037630,NM_033437,NM_001083,NM_033430 LOC645513,PDE5A,PDE5A,PDE5A EXON Silent,Nonsense_Q808X,Nonsense_Q860X,Nonsense_Q818X exm421405 4 120422407 [T/G] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_D751A,Missense_D803A,Missense_D761A exm421415 4 120423809 [A/G] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_I726T,Missense_I778T,Missense_I736T rs6843229 4 120424087 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A Silent,Silent,Silent indel.82629 4 120428798 [I/D] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON exm421428 4 120440278 [A/G] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_L589P,Missense_L641P,Missense_L599P rs1155577 4 120449810 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A Silent,Silent,Silent rs1155576 4 120450159 [A/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A Silent,Silent,Silent variant.82631 4 120460115 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Synonymous_A492A,Synonymous_A544A,Synonymous_A502A exm421449 4 120463726 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_N435S,Missense_N487S,Missense_N445S exm421450 4 120463748 [T/G] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_K428Q,Missense_K480Q,Missense_K438Q exm421453 4 120474830 [A/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_I372S,Missense_I424S,Missense_I382S exm421454 4 120474857 [A/G] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_V363A,Missense_V415A,Missense_V373A exm421465 4 120484052 [A/G] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_A304V,Missense_A356V,Missense_A314V exm421467 4 120484068 [A/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_L299V,Missense_L351V,Missense_L309V exm421471 4 120488245 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_T244A,Missense_T296A,Missense_T254A rs12646525 4 120502461 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A Silent,Silent,Silent rs10012485 4 120508298 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A Silent,Silent,Silent exm421484 4 120527940 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_R170H,Missense_R222H,Missense_R180H exm421486 4 120528040 [A/G] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_L137F,Missense_L189F,Missense_L147F exm421488 4 120528064 [A/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_S129A,Missense_S181A,Missense_S139A exm421489 4 120528073 [A/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Nonsense_G126X,Nonsense_G178X,Nonsense_G136X exm421501 4 120528327 [A/G] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_A41V,Missense_A93V,Missense_A51V exm421502 4 120528342 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_R36H,Missense_R88H,Missense_R46H exm421505 4 120528397 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A EXON Missense_E18K,Missense_E70K,Missense_E28K rs6847164 4 120534734 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A Silent,Silent,Silent rs6534146 4 120538823 [A/G] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A Silent,Silent,Silent rs6832740 4 120546136 [T/C] NM_033437,NM_001083,NM_033430 PDE5A,PDE5A,PDE5A Silent,Silent,Silent exm2269962 4 120575619 [T/G] rs2389891 4 120576177 [A/G] rs9994651 4 120587803 [A/G] rs10003106 4 120595698 [A/G] rs2389896 4 120600424 [A/G] exm2256309 4 120601731 [T/G] rs12510467 4 120618359 [A/G] rs1009077 4 120627421 [A/G] rs2714961 4 120628627 [T/C] rs11726524 4 120643124 [A/C] rs749526 4 120663649 [T/G] rs11736455 4 120685312 [T/C] rs2389957 4 120695322 [T/C] rs6534152 4 120704766 [A/G] rs17006113 4 120714886 [T/C] exm2256310 4 120716967 [A/G] rs7699214 4 120716967 [A/G] rs2389923 4 120731697 [T/C] rs10004197 4 120736449 [A/G] rs17363983 4 120756608 [T/G] rs1503538 4 120757419 [T/G] rs7690791 4 120758258 [A/G] rs1124166 4 120773133 [T/C] rs17006835 4 120775160 [A/G] rs1123767 4 120775448 [T/G] rs722766 4 120776752 [T/C] rs17006982 4 120788956 [A/G] rs1587734 4 120809455 [T/C] rs1503540 4 120812306 [T/C] rs13132107 4 120821994 [T/C] rs10018121 4 120846553 [A/C] rs12508689 4 120847421 [A/G] rs13135303 4 120849319 [A/G] kgp12063832 4 120853368 [A/G] rs1604711 4 120910200 [T/C] rs1847333 4 120939273 [T/C] rs6856643 4 120942372 [A/G] exm-rs1845344 4 120962385 [T/G] rs1845344 4 120962385 [T/G] rs6828161 4 120968070 [A/G] rs7677531 4 120969089 [A/C] exm421535 4 120982115 [A/G] NM_002358 MAD2L1 EXON Missense_S120F rs12711084 4 120989853 [T/C] rs13121806 4 120990081 [T/C] rs6855113 4 121005634 [A/G] rs1908169 4 121033187 [T/C] rs17010476 4 121034480 [T/C] rs1493682 4 121041286 [T/G] rs7695341 4 121042212 [A/G] rs6854848 4 121063683 [T/C] rs10022765 4 121078848 [A/G] rs12644766 4 121095379 [T/C] rs13102180 4 121100036 [A/G] rs1509001 4 121110203 [T/C] rs2662692 4 121140144 [T/G] rs13134323 4 121149877 [T/C] rs17012481 4 121185834 [T/C] rs2715970 4 121206490 [T/C] rs2662744 4 121207648 [A/G] rs2662715 4 121229736 [A/C] rs1543277 4 121232742 [T/C] rs1160185 4 121263497 [A/G] rs7683870 4 121270939 [A/G] rs6817848 4 121292818 [A/G] rs1374988 4 121292945 [T/C] rs7694494 4 121339394 [T/G] rs705103 4 121347367 [A/G] rs11938648 4 121353265 [A/G] rs1685593 4 121371794 [T/C] rs12501789 4 121397402 [A/G] rs17339087 4 121402735 [A/C] rs17050662 4 121417757 [T/C] rs843605 4 121426884 [T/C] rs6841772 4 121429603 [A/G] exm2269832 4 121429891 [T/G] exm2265866 4 121441958 [A/G] rs10024986 4 121450846 [T/C] rs2390022 4 121457685 [A/G] rs4833652 4 121474572 [A/G] rs11098574 4 121487559 [A/G] rs1532055 4 121489983 [A/G] exm-rs10017284 4 121513215 [A/G] rs10002802 4 121526447 [T/G] rs11732932 4 121532558 [A/G] rs10518365 4 121536939 [A/G] rs11098579 4 121538689 [A/G] rs1463782 4 121539450 [A/G] rs7693486 4 121552714 [T/G] rs17343008 4 121552826 [A/G] rs6818888 4 121581769 [A/C] rs1496270 4 121588603 [A/G] rs1874442 4 121623057 [A/G] NM_018699 PRDM5 Silent rs1390563 4 121626824 [T/C] NM_018699 PRDM5 Silent rs11730092 4 121630332 [T/C] NM_018699 PRDM5 Silent var_4_121631542 4 121631542 [T/G] NM_018699 PRDM5 EXON Nonsense_C550X exm421562 4 121631559 [A/G] NM_018699 PRDM5 EXON Missense_Y545H rs6838858 4 121642180 [T/C] NM_018699 PRDM5 Silent rs843575 4 121645012 [A/G] NM_018699 PRDM5 Silent exm2269833 4 121648617 [T/C] NM_018699 PRDM5 Silent rs10518377 4 121648617 [T/C] NM_018699 PRDM5 Silent rs17347051 4 121652465 [T/C] NM_018699 PRDM5 Silent rs6813562 4 121684267 [T/C] NM_018699 PRDM5 Silent rs907298 4 121691899 [A/C] NM_018699 PRDM5 Silent variant.82635 4 121698342 [T/C] NM_018699 PRDM5 Silent rs17051254 4 121703782 [A/G] NM_018699 PRDM5 Silent exm421576 4 121706162 [T/C] NM_018699 PRDM5 EXON Missense_I425V rs12499000 4 121706201 [A/G] NM_018699 PRDM5 EXON Synonymous_L412L rs13111620 4 121709930 [T/C] NM_018699 PRDM5 Silent rs6827372 4 121714045 [T/C] NM_018699 PRDM5 Silent exm421587 4 121719544 [T/A] NM_018699 PRDM5 EXON Missense_S356T rs17051264 4 121737624 [T/C] NM_018699 PRDM5 EXON Synonymous_Q283Q exm2064835 4 121737634 [T/C] NM_018699 PRDM5 EXON Missense_K280R variant.82636 4 121737722 [A/G] NM_018699 PRDM5 EXON Nonsense_Q251X rs343192 4 121738049 [T/C] NM_018699 PRDM5 EXON Synonymous_L227L exm421629 4 121739614 [A/G] NM_018699 PRDM5 EXON Missense_L182F exm421637 4 121742459 [T/G] NM_018699 PRDM5 EXON Missense_E114D indel.82638 4 121742496 [D/I] NM_018699 PRDM5 EXON rs343176 4 121759338 [T/C] NM_018699 PRDM5 Silent exm421638 4 121774595 [T/C] NM_018699 PRDM5 EXON Missense_Q93R rs1450476 4 121784013 [T/C] NM_018699 PRDM5 Silent rs7675777 4 121789730 [T/C] NM_018699 PRDM5 Silent rs17051273 4 121792785 [T/C] NM_018699 PRDM5 Silent rs6844159 4 121794535 [T/C] NM_018699 PRDM5 Silent rs343202 4 121795956 [A/G] NM_018699 PRDM5 Silent rs17051275 4 121801457 [T/C] NM_018699 PRDM5 Silent exm-rs180730 4 121801790 [A/G] NM_018699 PRDM5 Silent rs2667175 4 121803254 [T/C] NM_018699 PRDM5 Silent rs11723050 4 121814232 [T/C] NM_018699 PRDM5 Silent rs343168 4 121816501 [A/G] NM_018699 PRDM5 Silent rs2122512 4 121830057 [A/G] NM_018699 PRDM5 Silent rs1470696 4 121842567 [T/C] NM_018699 PRDM5 Silent rs6848268 4 121857957 [T/G] rs1450471 4 121873063 [T/C] rs12648040 4 121893179 [A/G] rs12641971 4 121893316 [A/G] rs6841260 4 121894207 [T/C] rs6855437 4 121898421 [A/G] rs6824931 4 121904225 [T/C] rs4498152 4 121931785 [T/C] rs1807071 4 121938296 [A/C] rs11931955 4 121940998 [T/C] rs12509928 4 121944932 [T/C] exm2261596 4 121957051 [T/C] NM_024574 NDNF EXON Silent exm421657 4 121957565 [T/G] NM_024574 NDNF EXON Missense_Q521K exm421668 4 121958002 [A/G] NM_024574 NDNF EXON Missense_T375I indel.82639 4 121958109 [I/D] NM_024574 NDNF EXON exm421685 4 121958293 [T/C] NM_024574 NDNF EXON Missense_R278H exm421695 4 121958425 [T/C] NM_024574 NDNF EXON Missense_D234G exm421698 4 121958473 [T/C] NM_024574 NDNF EXON Missense_E218G exm421700 4 121958524 [C/G] NM_024574 NDNF EXON Missense_T201S exm421702 4 121958561 [A/G] NM_024574 NDNF EXON Missense_R189C rs3733560 4 121958697 [A/G] NM_024574 NDNF EXON Synonymous_S143S exm421708 4 121958707 [T/C] NM_024574 NDNF EXON Missense_S140N exm421715 4 121961159 [A/G] NM_024574 NDNF EXON Missense_T80M rs17051284 4 121972302 [T/C] NM_024574 NDNF Silent rs11098600 4 121972352 [A/C] NM_024574 NDNF Silent rs11931196 4 121974645 [T/C] NM_024574 NDNF Silent rs6829190 4 121984023 [T/C] NM_024574 NDNF Silent rs13128284 4 122015591 [A/G] rs13142482 4 122024540 [A/G] exm421725 4 122062981 [T/C] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_R292Q,Missense_R369Q,Missense_R362Q rs3817171 4 122063735 [A/G] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 Silent,Silent,Silent exm421731 4 122068269 [T/C] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_E224K,Missense_E301K,Missense_E294K variant.82641 4 122068296 [A/G] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Nonsense_R215X,Nonsense_R292X,Nonsense_R285X exm421733 4 122068316 [T/G] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_E208A,Missense_E285A,Missense_E278A exm421738 4 122071362 [A/C] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_A169S,Missense_A246S,Missense_A239S exm421745 4 122075822 [A/G] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_R126C,Missense_R203C,Missense_R196C exm421754 4 122078284 [T/G] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_R110S,Missense_R187S,Missense_R180S exm2240379 4 122078300 [T/G] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_R104S,Missense_R181S,Missense_R174S exm421761 4 122078317 [T/C] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_K99E,Missense_K176E,Missense_K169E exm421762 4 122078341 [T/C] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_K91E,Missense_K168E,Missense_K161E exm421769 4 122082339 [A/C] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_M33I,Missense_M110I,Missense_M103I rs6821331 4 122083428 [A/G] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 Silent,Silent,Silent exm421771 4 122085228 [A/G] NM_024873,NM_001244764,NM_001128843 TNIP3,TNIP3,TNIP3 EXON Missense_T18M,Missense_T95M,Missense_T88M rs7661427 4 122088141 [A/G] NM_001244764,NM_001128843 TNIP3,TNIP3 Silent,Silent rs13129450 4 122091233 [T/G] NM_001244764,NM_001128843 TNIP3,TNIP3 Silent,Silent rs9784553 4 122100257 [A/G] NM_001244764,NM_001128843 TNIP3,TNIP3 Silent,Silent rs13104875 4 122137121 [T/C] NM_001244764,NM_001128843 TNIP3,TNIP3 Silent,Silent rs10518385 4 122142224 [T/C] NM_001244764 TNIP3 Silent rs6835704 4 122143664 [T/C] NM_001244764 TNIP3 Silent rs7671286 4 122156142 [T/C] rs11938619 4 122161207 [A/G] rs12650479 4 122163552 [T/C] rs9993738 4 122176770 [T/C] rs7654307 4 122187618 [T/G] rs4833711 4 122193376 [T/C] rs7664875 4 122201508 [A/G] rs12647412 4 122205406 [T/C] exm2269834 4 122205406 [T/C] rs4642269 4 122222233 [A/G] rs13119531 4 122226998 [A/G] rs11721375 4 122249743 [A/G] exm421782 4 122250537 [A/G] NM_198179 QRFPR EXON Missense_L410F exm421785 4 122250555 [T/C] NM_198179 QRFPR EXON Missense_T404A indel.82643 4 122250556 [I/D] NM_198179 QRFPR EXON exm421786 4 122250603 [T/C] NM_198179 QRFPR EXON Missense_G388R exm421788 4 122250654 [A/G] NM_198179 QRFPR EXON Missense_R371W exm421790 4 122250734 [A/G] NM_198179 QRFPR EXON Missense_L344S rs2302310 4 122250734 [A/G] NM_198179 QRFPR EXON Missense_L344S indel.82645 4 122250769 [I/D] NM_198179 QRFPR EXON indel.82646 4 122250775 [I/D] NM_198179 QRFPR EXON exm421796 4 122251598 [T/C] NM_198179 QRFPR EXON Missense_H293R indel.82649 4 122251680 [I/D] NM_198179 QRFPR exm421800 4 122254003 [T/C] NM_198179 QRFPR EXON Missense_H257R newrs140968526 4 122254013 [A/G] NM_198179 QRFPR EXON Nonsense_R254X exm421802 4 122254013 [A/G] NM_198179 QRFPR EXON Nonsense_R254X exm421805 4 122254025 [A/C] NM_198179 QRFPR EXON Missense_G250C exm421806 4 122254078 [A/C] NM_198179 QRFPR EXON Missense_I232S exm421808 4 122254142 [C/G] NM_198179 QRFPR EXON Missense_Q211E rs4273489 4 122257538 [A/G] NM_198179 QRFPR Silent rs2302309 4 122257950 [A/G] NM_198179 QRFPR Silent variant.82652 4 122257994 [A/C] NM_198179 QRFPR EXON Nonsense_G177X exm421821 4 122261613 [T/C] NM_198179 QRFPR EXON Missense_M165V variant.82654 4 122261628 [A/G] NM_198179 QRFPR EXON Nonsense_R160X newrs140371556 4 122261635 [T/G] NM_198179 QRFPR EXON Nonsense_Y157X exm421825 4 122261659 [A/C] NM_198179 QRFPR EXON Missense_H149Q variant.82656 4 122261692 [T/G] NM_198179 QRFPR EXON Nonsense_C138X variant.82657 4 122261733 [A/G] NM_198179 QRFPR EXON Nonsense_Q125X exm421827 4 122261745 [A/C] NM_198179 QRFPR EXON Missense_V121L rs7698313 4 122264663 [A/G] NM_198179 QRFPR Silent rs13110738 4 122268413 [A/G] NM_198179 QRFPR Silent rs2090025 4 122274144 [T/C] NM_198179 QRFPR Silent rs12642360 4 122300413 [A/G] NM_198179 QRFPR Silent exm421831 4 122301534 [T/C] NM_198179 QRFPR EXON Missense_S90N exm421836 4 122301597 [A/C] NM_198179 QRFPR EXON Missense_V69G exm2064916 4 122301601 [A/G] NM_198179 QRFPR EXON Missense_Y68H rs17438900 4 122301622 [A/C] NM_198179 QRFPR EXON Missense_F61V exm421839 4 122301649 [T/C] NM_198179 QRFPR EXON Missense_G52S exm421842 4 122301703 [A/G] NM_198179 QRFPR EXON Missense_L34F exm421847 4 122301738 [T/C] NM_198179 QRFPR EXON Missense_R22Q rs692496 4 122308022 [T/C] rs532774 4 122310161 [A/G] rs7679475 4 122314040 [A/G] rs17439459 4 122315993 [T/C] rs4425401 4 122324112 [A/G] rs17439730 4 122325187 [T/C] rs1513697 4 122333765 [A/C] rs9884280 4 122343345 [T/C] rs488158 4 122348834 [A/C] rs691345 4 122358044 [A/C] rs12647248 4 122369141 [A/G] rs577737 4 122370550 [A/G] rs692380 4 122370729 [A/C] rs692157 4 122382834 [T/C] rs1513702 4 122392108 [A/G] rs10028769 4 122393782 [T/C] rs10031780 4 122394649 [T/C] rs13137076 4 122395119 [T/C] rs1513707 4 122421393 [A/C] rs13124630 4 122423129 [A/C] rs17382098 4 122426239 [A/G] rs9993990 4 122426864 [A/C] rs4833736 4 122429378 [A/G] rs883029 4 122431579 [T/G] rs6828751 4 122436261 [T/C] rs12648087 4 122440829 [A/G] rs4833741 4 122446250 [T/C] rs4833218 4 122449393 [A/G] rs4833219 4 122449490 [A/G] rs6840582 4 122450475 [T/C] rs9994817 4 122451829 [T/C] rs4370152 4 122463069 [A/G] rs12504183 4 122473563 [A/G] rs982887 4 122475832 [T/C] rs4565102 4 122480241 [A/G] rs6534295 4 122487647 [T/C] rs11731548 4 122499665 [T/G] rs7690087 4 122502810 [T/C] rs6534300 4 122508654 [A/G] rs6534302 4 122520868 [A/G] rs9685971 4 122525783 [A/G] rs3811745 4 122531359 [A/G] rs17442542 4 122533936 [T/C] rs4460015 4 122535735 [A/G] rs7675417 4 122544756 [A/G] rs4833753 4 122550874 [A/G] rs5020375 4 122559883 [T/C] rs17051378 4 122565698 [T/C] rs725882 4 122568322 [A/G] rs6823721 4 122573054 [T/C] rs11937561 4 122574626 [T/C] rs17384008 4 122580875 [A/G] rs17718 4 122589283 [A/G] NM_001154 ANXA5 EXON Silent exm421858 4 122590824 [A/G] NM_001154 ANXA5 EXON Missense_I279T exm421861 4 122590846 [T/C] NM_001154 ANXA5 EXON Missense_V272I exm2256315 4 122591118 [A/G] NM_001154 ANXA5 EXON Synonymous_Y257Y exm421866 4 122591118 [A/G] NM_001154 ANXA5 EXON Synonymous_Y257Y exm421867 4 122591155 [T/C] NM_001154 ANXA5 EXON Missense_R245Q newrs146935113 4 122593688 [T/C] NM_001154 ANXA5 EXON Missense_V209M exm421874 4 122593711 [T/C] NM_001154 ANXA5 EXON Missense_R201Q exm421875 4 122593712 [A/G] NM_001154 ANXA5 EXON Nonsense_R201X newrs147110745 4 122593712 [A/G] NM_001154 ANXA5 EXON Nonsense_R201X exm421877 4 122599053 [A/G] NM_001154 ANXA5 EXON Missense_A176V exm2256316 4 122599070 [A/G] NM_001154 ANXA5 EXON Synonymous_A170A exm421885 4 122599623 [T/C] NM_001154 ANXA5 EXON Missense_V141M exm421889 4 122604526 [A/G] NM_001154 ANXA5 EXON Missense_A99V exm421892 4 122604580 [A/G] NM_001154 ANXA5 EXON Missense_I81T rs6857766 4 122611285 [A/G] NM_001154 ANXA5 Silent rs6830321 4 122614755 [T/C] NM_001154 ANXA5 Silent rs13145977 4 122616166 [T/C] NM_001154 ANXA5 Silent rs2306416 4 122617688 [T/C] NM_001154 ANXA5 Silent exm421910 4 122617780 [G/C] NM_001154 ANXA5 Silent rs7680787 4 122624065 [T/C] rs2892966 4 122644567 [T/C] rs1031923 4 122647904 [T/C] rs11732306 4 122653300 [A/C] rs2706784 4 122659704 [A/C] exm2265750 4 122664323 [A/G] rs28532673 4 122664323 [A/G] exm-rs7659604 4 122665514 [T/C] rs11934307 4 122677514 [A/G] rs11937861 4 122680075 [T/C] exm421916 4 122681490 [T/C] NM_152399 TMEM155 EXON Missense_R118G exm421918 4 122681571 [A/G] NM_152399 TMEM155 EXON Missense_R91W exm421920 4 122681615 [T/G] NM_152399 TMEM155 EXON Missense_P76H exm421921 4 122682708 [T/C] NM_152399 TMEM155 EXON Nonsense_W66X exm421922 4 122682720 [T/C] NM_152399 TMEM155 EXON Missense_R62H exm421926 4 122682779 [A/T] NM_152399 TMEM155 EXON Missense_R42S newrs148344547 4 122682805 [A/G] NM_152399 TMEM155 EXON Nonsense_Q34X variant.82670 4 122682980 [A/C] NM_152399 TMEM155 Silent exm421930 4 122683007 [A/G] NM_152399 TMEM155 EXON Missense_A11V exm421933 4 122683047 [T/C] NM_152399 TMEM155 EXON Silent rs4833233 4 122688744 [A/G] rs6534321 4 122692023 [T/C] exm2265867 4 122703201 [A/G] exm421937 4 122722620 [T/C] NM_005033,NM_001034194 EXOSC9,EXOSC9 EXON Missense_L14P,Missense_L14P indel.82672 4 122723942 [D/I] NM_005033,NM_001034194 EXOSC9,EXOSC9 EXON exm421957 4 122725835 [T/C] NM_005033,NM_001034194 EXOSC9,EXOSC9 EXON Missense_A148V,Missense_A148V variant.82673 4 122725873 [T/C] NM_005033,NM_001034194 EXOSC9,EXOSC9 EXON Nonsense_R161X,Nonsense_R161X exm421963 4 122725915 [A/G] NM_005033,NM_001034194 EXOSC9,EXOSC9 Silent,Silent newrs151134983 4 122725915 [A/G] NM_005033,NM_001034194 EXOSC9,EXOSC9 Silent,Silent indel.82676 4 122728699 [I/D] NM_005033,NM_001034194 EXOSC9,EXOSC9 EXON exm421966 4 122728748 [T/G] NM_005033,NM_001034194 EXOSC9,EXOSC9 EXON Missense_I192M,Missense_I192M variant.82677 4 122731150 [T/C] NM_005033,NM_001034194 EXOSC9,EXOSC9 EXON Nonsense_R212X,Nonsense_R212X exm421976 4 122732768 [A/G] NM_005033,NM_001034194 EXOSC9,EXOSC9 EXON Missense_K257E,Missense_K257E exm421981 4 122734423 [A/G] NM_005033,NM_001034194 EXOSC9,EXOSC9 EXON Missense_I288V,Missense_I288V exm421983 4 122734475 [T/C] NM_005033,NM_001034194 EXOSC9,EXOSC9 EXON Missense_T305I,Missense_T305I exm2064972 4 122734531 [A/G] NM_005033,NM_001034194 EXOSC9,EXOSC9 EXON Missense_E324K,Missense_E324K indel.82679 4 122735044 [I/D] NM_005033,NM_001034194 EXOSC9,EXOSC9 EXON exm421993 4 122735142 [A/G] NM_005033,NM_001034194 EXOSC9,EXOSC9 EXON Missense_I366V,Missense_I366V exm422000 4 122737965 [G/C] NM_005033,NM_001034194,NM_001237 EXOSC9,EXOSC9,CCNA2 EXON Missense_S425T,Missense_S442T,Silent exm422005 4 122738801 [A/T] NM_001237 CCNA2 EXON Missense_N431Y rs2071486 4 122740162 [T/C] NM_001237 CCNA2 Silent rs769243 4 122741807 [T/C] NM_001237 CCNA2 EXON Synonymous_Q228Q exm422024 4 122742165 [T/A] NM_001237 CCNA2 EXON Missense_E180V exm422027 4 122742217 [T/C] NM_001237 CCNA2 EXON Missense_I163V exm422031 4 122743678 [T/G] NM_001237 CCNA2 EXON Missense_K113Q exm422032 4 122743681 [T/C] NM_001237 CCNA2 EXON Missense_K112E rs769240 4 122744067 [A/C] NM_001237 CCNA2 Silent exm422046 4 122747017 [A/G] NM_176824 BBS7 EXON Missense_X716R exm-rs1507995 4 122748308 [A/G] NM_176824 BBS7 Silent indel.82681 4 122749347 [I/D] NM_176824,NM_018190 BBS7,BBS7 EXON rs13145213 4 122750079 [T/C] NM_176824,NM_018190 BBS7,BBS7 Silent,Silent indel.82682 4 122754407 [I/D] NM_176824,NM_018190 BBS7,BBS7 EXON exm422060 4 122754459 [T/G] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_P535T,Missense_P535T exm422064 4 122756305 [T/C] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_H502R,Missense_H502R exm422067 4 122756435 [A/G] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_R459C,Missense_R459C indel.82683 4 122760849 [I/D] NM_176824,NM_018190 BBS7,BBS7 EXON exm422072 4 122765124 [A/T] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_D421E,Missense_D421E exm422073 4 122765152 [T/C] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_D412G,Missense_D412G exm422079 4 122766792 [A/G] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_S366F,Missense_S366F var_4_122766825 4 122766826 [I/D] NM_176824,NM_018190 BBS7,BBS7 EXON newrs119466001 4 122768628 [T/C] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_H323R,Missense_H323R exm422090 4 122774122 [A/G] NM_176824,NM_018190 BBS7,BBS7 EXON Nonsense_R280X,Nonsense_R280X variant.82690 4 122775887 [T/C] NM_176824,NM_018190 BBS7,BBS7 EXON Nonsense_W230X,Nonsense_W230X exm2065026 4 122780167 [T/C] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_R170G,Missense_R170G exm2065028 4 122782720 [A/T] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_T94S,Missense_T94S exm422106 4 122782777 [T/C] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_I75V,Missense_I75V variant.82691 4 122782802 [A/C] NM_176824,NM_018190 BBS7,BBS7 EXON Missense_I66M,Missense_I66M variant.82693 4 122784367 [T/C] NM_176824,NM_018190 BBS7,BBS7 Silent,Silent exm422123 4 122800971 [T/C] NM_003305,NM_001130698 TRPC3,TRPC3 EXON Missense_S823G,Missense_S896G rs11726196 4 122806228 [A/C] NM_003305,NM_001130698 TRPC3,TRPC3 Silent,Silent rs12502635 4 122813459 [A/G] NM_003305,NM_001130698 TRPC3,TRPC3 Silent,Silent rs3762839 4 122825364 [A/C] NM_003305,NM_001130698 TRPC3,TRPC3 Silent,Silent exm422140 4 122825566 [T/C] NM_003305,NM_001130698 TRPC3,TRPC3 EXON Missense_V649I,Missense_V722I variant.82695 4 122828457 [T/C] NM_003305,NM_001130698 TRPC3,TRPC3 Silent,Silent rs884701 4 122830406 [A/G] NM_003305,NM_001130698 TRPC3,TRPC3 Silent,Silent newrs138022780 4 122831390 [A/G] NM_003305,NM_001130698 TRPC3,TRPC3 EXON Nonsense_Q498X,Nonsense_Q571X newrs145967007 4 122833031 [T/C] NM_003305,NM_001130698 TRPC3,TRPC3 Silent,Silent newrs138552308 4 122833074 [A/G] NM_003305,NM_001130698 TRPC3,TRPC3 EXON Nonsense_Q433X,Nonsense_Q506X exm422166 4 122833191 [T/C] NM_003305,NM_001130698 TRPC3,TRPC3 EXON Missense_I394V,Missense_I467V exm422170 4 122835991 [T/C] NM_003305,NM_001130698 TRPC3,TRPC3 EXON Missense_V356M,Missense_V429M exm422177 4 122846193 [T/C] NM_003305,NM_001130698 TRPC3,TRPC3 EXON Missense_I313V,Missense_I386V rs6841843 4 122857568 [T/C] NM_001130698 TRPC3 Silent rs950574 4 122864241 [A/G] NM_001130698 TRPC3 Silent rs970349 4 122871632 [A/G] NM_001130698 TRPC3 Silent rs1880863 4 122881942 [A/G] rs4001038 4 122886240 [T/C] rs1358229 4 122896734 [T/C] rs6817255 4 122902923 [T/G] rs11098653 4 122903090 [T/C] rs1965582 4 122947939 [A/G] rs10016562 4 122949327 [T/G] rs12649045 4 122957607 [T/C] rs4833798 4 122959398 [T/C] rs6840372 4 122978844 [T/C] exm2269835 4 122978844 [T/C] rs1880864 4 122987188 [A/G] rs13116766 4 122989473 [A/C] rs941130 4 123001769 [A/G] rs13132933 4 123010587 [T/C] rs4833810 4 123018390 [T/C] rs3108396 4 123021560 [T/G] rs4833811 4 123027723 [T/C] kgp11667107 4 123027783 [A/G] kgp521854 4 123028619 [T/G] rs10471017 4 123090820 [A/G] indel.82701 4 123094204 [I/D] NM_015312 KIAA1109 EXON exm422219 4 123094236 [A/C] NM_015312 KIAA1109 EXON Missense_N48T exm422220 4 123094279 [T/A] NM_015312 KIAA1109 EXON Missense_R62S exm422223 4 123095797 [A/G] NM_015312 KIAA1109 EXON Missense_M95V rs7682281 4 123096486 [T/C] NM_015312 KIAA1109 Silent exm422232 4 123107337 [T/C] NM_015312 KIAA1109 EXON Missense_R169W exm422249 4 123109119 [A/G] NM_015312 KIAA1109 EXON Missense_T233A exm422257 4 123113393 [T/C] NM_015312 KIAA1109 EXON Missense_P304L exm422260 4 123113428 [A/G] NM_015312 KIAA1109 EXON Missense_S316G exm422263 4 123113521 [A/G] NM_015312 KIAA1109 EXON Missense_A347T exm-rs13151961 4 123115502 [A/G] NM_015312 KIAA1109 Silent exm422292 4 123130479 [A/G] NM_015312 KIAA1109 EXON Missense_V640I exm422295 4 123130998 [T/G] NM_015312 KIAA1109 EXON Missense_V653F exm2240389 4 123131055 [T/G] NM_015312 KIAA1109 EXON Missense_A672S exm-rs4505848 4 123132492 [A/G] NM_015312 KIAA1109 Silent rs7664452 4 123146225 [T/G] NM_015312 KIAA1109 Silent exm422323 4 123150286 [T/C] NM_015312 KIAA1109 EXON Missense_I978T exm422324 4 123150288 [T/C] NM_015312 KIAA1109 EXON Missense_P979S exm422325 4 123150327 [A/G] NM_015312 KIAA1109 EXON Missense_M992V exm422329 4 123151089 [A/G] NM_015312 KIAA1109 EXON Missense_G1016S indel.82704 4 123159280 [I/D] NM_015312 KIAA1109 EXON var_4_123159333 4 123159333 [T/C] NM_015312 KIAA1109 EXON Nonsense_Q1221X exm422348 4 123160682 [A/G] NM_015312 KIAA1109 EXON Missense_E1282G exm422353 4 123160999 [A/G] NM_015312 KIAA1109 EXON Missense_M1388V exm422359 4 123161348 [A/G] NM_015312 KIAA1109 EXON Missense_Q1504R exm422361 4 123161375 [T/C] NM_015312 KIAA1109 EXON Missense_I1513T exm422366 4 123164153 [A/G] NM_015312 KIAA1109 EXON Missense_V1558I exm422373 4 123166185 [A/G] NM_015312 KIAA1109 EXON Missense_A1643T variant.82706 4 123166209 [T/C] NM_015312 KIAA1109 EXON Nonsense_R1651X exm422374 4 123166228 [T/C] NM_015312 KIAA1109 EXON Missense_V1657A exm422379 4 123167395 [T/C] NM_015312 KIAA1109 EXON Missense_T1709I exm422381 4 123167439 [A/G] NM_015312 KIAA1109 EXON Missense_V1724I exm422382 4 123167847 [T/C] NM_015312 KIAA1109 EXON Missense_C1732R variant.82707 4 123167966 [A/G] NM_015312 KIAA1109 Silent exm422391 4 123168372 [A/G] NM_015312 KIAA1109 EXON Missense_R1791K variant.82708 4 123170796 [A/G] NM_015312 KIAA1109 EXON Nonsense_W1890X exm422400 4 123171659 [A/T] NM_015312 KIAA1109 EXON Missense_D1951E exm422402 4 123175434 [A/G] NM_015312 KIAA1109 EXON Missense_I2003V exm422422 4 123179900 [T/C] NM_015312 KIAA1109 EXON Missense_R2222W exm2240393 4 123184136 [C/G] NM_015312 KIAA1109 EXON Missense_T2327R variant.82710 4 123184143 [A/G] NM_015312 KIAA1109 Silent exm422435 4 123184608 [A/G] NM_015312 KIAA1109 EXON Missense_A2332T exm422445 4 123192240 [A/C] NM_015312 KIAA1109 EXON Missense_S2521R exm422457 4 123192643 [A/G] NM_015312 KIAA1109 EXON Missense_K2655R exm422464 4 123193525 [T/C] NM_015312 KIAA1109 EXON Missense_I2804T exm2240396 4 123197152 [A/G] NM_015312 KIAA1109 EXON Missense_T2856A exm422476 4 123202746 [A/G] NM_015312 KIAA1109 EXON Missense_T2952A exm422481 4 123207846 [A/G] NM_015312 KIAA1109 EXON Missense_H3063R exm-rs13119723 4 123218313 [A/G] NM_015312 KIAA1109 Silent rs11734090 4 123228113 [T/C] NM_015312 KIAA1109 Silent rs7688384 4 123229132 [T/C] NM_015312 KIAA1109 EXON Synonymous_A3290A exm422519 4 123249341 [C/G] NM_015312 KIAA1109 EXON Missense_C3693S exm422520 4 123249358 [A/C] NM_015312 KIAA1109 EXON Missense_P3699T exm422521 4 123249383 [T/C] NM_015312 KIAA1109 EXON Missense_P3707L exm422522 4 123249392 [T/C] NM_015312 KIAA1109 EXON Missense_P3710L exm422526 4 123249462 [A/C] NM_015312 KIAA1109 EXON Missense_E3733D exm422532 4 123252539 [T/C] NM_015312 KIAA1109 EXON Missense_R3770C exm422533 4 123252551 [A/C] NM_015312 KIAA1109 EXON Missense_T3774P exm422537 4 123254784 [A/G] NM_015312 KIAA1109 EXON Synonymous_R3822R exm422544 4 123255610 [A/G] NM_015312 KIAA1109 EXON Missense_A3920T exm422551 4 123257350 [A/G] NM_015312 KIAA1109 EXON Missense_K3951R indel.82718 4 123265632 [D/I] NM_015312 KIAA1109 EXON exm422576 4 123268859 [A/G] NM_015312 KIAA1109 EXON Missense_T4352A indel.82720 4 123269747 [I/D] NM_015312 KIAA1109 EXON exm422603 4 123277001 [A/G] NM_015312 KIAA1109 EXON Missense_T4786A variant.82722 4 123280741 [T/C] NM_015312 KIAA1109 EXON Nonsense_R4889X exm422611 4 123280769 [T/C] NM_015312 KIAA1109 EXON Missense_I4898T rs1127348 4 123280860 [T/C] NM_015312 KIAA1109 EXON Synonymous_H4928H rs34135604 4 123283993 [A/G] exm422618 4 123301250 [A/G] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 EXON Missense_Q9R,Missense_Q9R,Silent exm422630 4 123302249 [A/G] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 EXON Missense_R92H,Missense_R92H,Missense_R74H exm422631 4 123302255 [A/G] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 EXON Missense_E94G,Missense_E94G,Missense_E76G variant.82724 4 123305126 [A/G] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 Silent,Silent,Silent rs2127511 4 123312588 [T/C] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 Silent,Silent,Silent rs17388568 4 123329362 [A/G] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 Silent,Silent,Silent exm-rs17388568 4 123329362 [A/G] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 Silent,Silent,Silent rs12499753 4 123333177 [T/C] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 Silent,Silent,Silent exm422655 4 123336536 [A/G] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 EXON Missense_D418N,Missense_D407N,Missense_D400N exm2240402 4 123336725 [T/G] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 EXON Missense_V481F,Missense_V470F,Missense_V463F rs7684187 4 123341159 [A/G] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 Silent,Silent,Silent variant.82725 4 123342415 [T/G] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 Silent,Silent,Silent exm422666 4 123342476 [T/C] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 EXON Synonymous_S516S,Synonymous_S505S,Synonymous_S498S exm2256318 4 123342476 [T/C] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 EXON Synonymous_S516S,Synonymous_S505S,Synonymous_S498S exm422667 4 123342477 [T/C] NM_139243,NM_001159285,NM_001159295 ADAD1,ADAD1,ADAD1 EXON Missense_R517W,Missense_R506W,Missense_R499W rs1021010 4 123354046 [A/G] rs1479923 4 123370387 [A/G] rs2069772 4 123373133 [T/C] NM_000586 IL2 Silent exm422684 4 123377467 [A/C] NM_000586 IL2 EXON Missense_M43I rs2069762 4 123377980 [A/C] rs10857092 4 123389219 [A/G] rs6848139 4 123395041 [A/C] rs11946129 4 123427639 [A/G] rs11931661 4 123430465 [A/G] kgp10530273 4 123431998 [T/C] exm-rs6852535 4 123478716 [A/G] exm2265868 4 123501663 [A/G] rs12642902 4 123508501 [A/G] exm-rs6822844 4 123509421 [T/G] rs6822844 4 123509421 [T/G] rs975405 4 123521180 [A/G] exm422701 4 123536860 [T/C] NM_021803,NM_001207006 IL21,IL21 EXON Missense_G113R,Missense_G113R exm422702 4 123536862 [A/G] NM_021803,NM_001207006 IL21,IL21 EXON Missense_A112V,Missense_A112V rs4833837 4 123536963 [A/G] NM_021803,NM_001207006 IL21,IL21 EXON Synonymous_C78C,Synonymous_C78C exm422710 4 123542048 [T/C] NM_021803,NM_001207006 IL21,IL21 EXON Missense_R40H,Missense_R40H rs17005931 4 123545648 [T/C] rs17005934 4 123549699 [T/C] rs1512970 4 123561067 [T/C] rs1022234 4 123563078 [A/G] rs6844999 4 123581235 [T/G] rs6836610 4 123601697 [A/G] rs309414 4 123620912 [T/G] rs13353661 4 123623830 [A/C] rs1026157 4 123623893 [T/G] rs416556 4 123629427 [A/C] exm422721 4 123663163 [T/C] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_I39T,Missense_I39T exm422725 4 123663259 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_N71S,Missense_N71S exm422729 4 123663391 [T/C] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_V115A,Missense_V115A exm422730 4 123663402 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_G119S,Missense_G119S exm422731 4 123663425 [T/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_E126D,Missense_E126D exm422738 4 123663761 [T/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_N238K,Missense_N238K indel.82726 4 123663825 [D/I] NM_001178007,NM_152618 BBS12,BBS12 EXON exm422741 4 123663870 [T/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_L275V,Missense_L275V exm422743 4 123663958 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_C304Y,Missense_C304Y exm422747 4 123664026 [A/T] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_S327T,Missense_S327T newrs121918327 4 123664110 [T/C] NM_001178007,NM_152618 BBS12,BBS12 EXON Nonsense_R355X,Nonsense_R355X exm422751 4 123664150 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_R368H,Missense_R368H exm422754 4 123664203 [T/C] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_R386W,Missense_R386W exm422755 4 123664204 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_R386Q,Missense_R386Q exm2065292 4 123664254 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_V403M,Missense_V403M exm422765 4 123664308 [A/C] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_R421S,Missense_R421S exm422768 4 123664333 [G/C] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_S429T,Missense_S429T exm422772 4 123664428 [A/C] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_N461H,Missense_N461H exm422774 4 123664446 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_D467N,Missense_D467N exm422778 4 123664498 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_R484K,Missense_R484K exm422780 4 123664512 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_A489T,Missense_A489T exm2256319 4 123664514 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Synonymous_A489A,Synonymous_A489A exm422783 4 123664546 [T/C] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_V500A,Missense_V500A newrs138011813 4 123664549 [T/C] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_T501M,Missense_T501M exm422794 4 123664894 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_S616N,Missense_S616N exm422797 4 123664906 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_Q620R,Missense_Q620R rs13102440 4 123664919 [A/G] NM_001178007,NM_152618 BBS12,BBS12 EXON Synonymous_Q624Q,Synonymous_Q624Q variant.82733 4 123665067 [T/C] NM_001178007,NM_152618 BBS12,BBS12 EXON Missense_R674C,Missense_R674C rs6811183 4 123671551 [T/G] exm2265751 4 123671984 [A/G] rs921301 4 123705387 [T/C] rs10005301 4 123715055 [T/C] exm2256321 4 123747942 [C/G] NM_002006 FGF2 EXON Synonymous_V4V exm422813 4 123747943 [C/G] NM_002006 FGF2 EXON Missense_G5R exm2065299 4 123747947 [A/G] NM_002006 FGF2 EXON Missense_G6D rs308412 4 123752017 [T/G] NM_002006 FGF2 Silent rs7694627 4 123788495 [T/C] NM_002006 FGF2 Silent exm422832 4 123797480 [T/G] NM_002006 FGF2 EXON Missense_K194N exm422835 4 123797526 [G/C] NM_002006 FGF2 EXON Missense_V210L rs17006255 4 123798993 [A/C] NM_002006 FGF2 Silent rs10028204 4 123799987 [A/G] NM_002006 FGF2 Silent var_4_123814074 4 123814074 [D/I] NM_002006,NM_007083,NM_198041 FGF2,NUDT6,NUDT6 EXON exm422851 4 123814164 [A/G] NM_002006,NM_007083,NM_198041 FGF2,NUDT6,NUDT6 EXON Silent,Missense_T257I,Missense_T88I exm422852 4 123814170 [A/G] NM_002006,NM_007083,NM_198041 FGF2,NUDT6,NUDT6 EXON Silent,Missense_A255V,Missense_A86V exm422857 4 123814251 [T/C] NM_002006,NM_007083,NM_198041 FGF2,NUDT6,NUDT6 EXON Silent,Missense_R228H,Missense_R59H exm422859 4 123814308 [T/C] NM_002006,NM_007083,NM_198041 FGF2,NUDT6,NUDT6 EXON Silent,Missense_R209Q,Missense_R40Q exm2240405 4 123814321 [T/C] NM_002006,NM_007083,NM_198041 FGF2,NUDT6,NUDT6 EXON Silent,Missense_V205I,Missense_V36I exm422861 4 123814345 [T/C] NM_002006,NM_007083,NM_198041 FGF2,NUDT6,NUDT6 EXON Silent,Missense_G197S,Missense_G28S exm2065326 4 123838685 [C/G] NM_007083,NM_198041 NUDT6,NUDT6 EXON Missense_G138A,Silent rs12648093 4 123838758 [A/G] NM_007083,NM_198041 NUDT6,NUDT6 EXON Missense_C114R,Silent exm422870 4 123838758 [A/G] NM_007083,NM_198041 NUDT6,NUDT6 EXON Missense_C114R,Silent variant.82739 4 123838816 [T/C] NM_007083,NM_198041 NUDT6,NUDT6 EXON Nonsense_W94X,Silent exm422880 4 123843564 [T/C] NM_007083,NM_198041 NUDT6,NUDT6 EXON Missense_G55D,Silent exm2065339 4 123844358 [T/C] NM_145207 SPATA5 EXON Missense_P21S exm422895 4 123844377 [C/G] NM_145207 SPATA5 EXON Missense_C27S exm422906 4 123850273 [T/G] NM_145207 SPATA5 EXON Missense_V123L rs10222773 4 123852184 [A/C] NM_145207 SPATA5 Silent exm422915 4 123855383 [A/G] NM_145207 SPATA5 EXON Missense_D213N exm422922 4 123855512 [A/G] NM_145207 SPATA5 EXON Missense_I256V exm422923 4 123855513 [T/C] NM_145207 SPATA5 EXON Missense_I256T exm422925 4 123855576 [T/A] NM_145207 SPATA5 EXON Missense_D277V exm422927 4 123855642 [T/G] NM_145207 SPATA5 EXON Missense_G299V exm422929 4 123855792 [A/G] NM_145207 SPATA5 EXON Missense_K349R exm422934 4 123856880 [T/C] NM_145207 SPATA5 EXON Missense_P387S variant.82742 4 123857311 [A/G] NM_145207 SPATA5 EXON Missense_R445Q var_4_123859405 4 123859405 [A/G] NM_145207 SPATA5 Silent rs6534369 4 123868456 [T/C] NM_145207 SPATA5 EXON Synonymous_L509L variant.82745 4 123868508 [T/C] NM_145207 SPATA5 EXON Nonsense_Q527X exm2065360 4 123868545 [T/G] NM_145207 SPATA5 EXON Missense_R539M exm422953 4 123868550 [T/C] NM_145207 SPATA5 EXON Missense_P541S exm422954 4 123868551 [C/G] NM_145207 SPATA5 EXON Missense_P541R newrs149688478 4 123868644 [A/G] NM_145207 SPATA5 Silent exm422959 4 123868644 [A/G] NM_145207 SPATA5 Silent rs906833 4 123881864 [T/C] NM_145207 SPATA5 Silent rs7673580 4 123885815 [T/C] NM_145207 SPATA5 Silent rs1467994 4 123890773 [A/C] NM_145207 SPATA5 Silent rs9996342 4 123897847 [A/G] NM_145207 SPATA5 Silent exm422968 4 123949435 [A/G] NM_145207 SPATA5 EXON Missense_R655Q rs1472949 4 123949556 [A/G] NM_145207 SPATA5 Silent exm422974 4 123977543 [A/G] NM_145207 SPATA5 EXON Missense_G694E rs12650805 4 123984242 [T/G] NM_145207 SPATA5 Silent rs12650569 4 123989201 [A/G] NM_145207 SPATA5 Silent exm422977 4 124011739 [T/C] NM_145207 SPATA5 EXON Missense_L740S rs412925 4 124015188 [A/G] NM_145207 SPATA5 Silent rs7674347 4 124055908 [T/C] NM_145207 SPATA5 Silent rs303084 4 124066948 [A/G] NM_145207 SPATA5 Silent rs304650 4 124083918 [T/C] NM_145207 SPATA5 Silent exm2269964 4 124087900 [T/G] NM_145207 SPATA5 Silent rs17006613 4 124100028 [T/C] NM_145207 SPATA5 Silent rs303130 4 124107641 [T/C] NM_145207 SPATA5 Silent rs304658 4 124108270 [A/G] NM_145207 SPATA5 Silent rs303100 4 124132528 [T/C] NM_145207 SPATA5 Silent rs2561151 4 124140719 [A/C] NM_145207 SPATA5 Silent rs4479722 4 124154217 [A/G] NM_145207 SPATA5 Silent rs11940736 4 124171702 [T/C] NM_145207 SPATA5 Silent rs991183 4 124173635 [A/G] NM_145207 SPATA5 Silent exm422984 4 124177286 [T/C] NM_145207 SPATA5 EXON Missense_V819A exm422987 4 124177315 [T/G] NM_145207 SPATA5 EXON Missense_D829Y rs13109534 4 124211262 [T/C] NM_145207 SPATA5 Silent rs6832894 4 124239525 [T/C] NM_145207 SPATA5 EXON Silent rs7677059 4 124257091 [T/C] rs871648 4 124267444 [A/G] rs879905 4 124282603 [T/G] rs11098708 4 124297264 [T/C] rs300553 4 124297449 [T/C] exm2265752 4 124303285 [A/G] rs6836221 4 124315710 [T/G] rs300572 4 124320924 [A/G] NM_199327,NM_001258038,NM_001258039,NM_005841 SPRY1,SPRY1,SPRY1,SPRY1 EXON Silent,Silent,Silent,Silent exm423001 4 124322817 [A/G] NM_199327,NM_001258038,NM_001258039,NM_005841 SPRY1,SPRY1,SPRY1,SPRY1 EXON Missense_R24H,Missense_R24H,Missense_R24H,Missense_R24H exm423002 4 124322832 [A/G] NM_199327,NM_001258038,NM_001258039,NM_005841 SPRY1,SPRY1,SPRY1,SPRY1 EXON Missense_Y29C,Missense_Y29C,Missense_Y29C,Missense_Y29C exm423004 4 124322855 [A/G] NM_199327,NM_001258038,NM_001258039,NM_005841 SPRY1,SPRY1,SPRY1,SPRY1 EXON Missense_A37T,Missense_A37T,Missense_A37T,Missense_A37T exm423012 4 124322943 [A/G] NM_199327,NM_001258038,NM_001258039,NM_005841 SPRY1,SPRY1,SPRY1,SPRY1 EXON Missense_R66Q,Missense_R66Q,Missense_R66Q,Missense_R66Q exm2240407 4 124322952 [T/C] NM_199327,NM_001258038,NM_001258039,NM_005841 SPRY1,SPRY1,SPRY1,SPRY1 EXON Missense_P69L,Missense_P69L,Missense_P69L,Missense_P69L exm423021 4 124323155 [A/G] NM_199327,NM_001258038,NM_001258039,NM_005841 SPRY1,SPRY1,SPRY1,SPRY1 EXON Missense_G137R,Missense_G137R,Missense_G137R,Missense_G137R exm2065384 4 124323177 [G/C] NM_199327,NM_001258038,NM_001258039,NM_005841 SPRY1,SPRY1,SPRY1,SPRY1 EXON Missense_P144R,Missense_P144R,Missense_P144R,Missense_P144R rs2390522 4 124342410 [A/G] rs10857095 4 124343118 [T/C] rs6534397 4 124343951 [T/C] rs10021762 4 124345346 [A/G] rs11098710 4 124353489 [T/C] rs6534401 4 124359046 [T/G] rs3860074 4 124368370 [A/G] rs11734331 4 124371328 [A/G] rs7677413 4 124375248 [T/C] rs6534407 4 124395024 [A/G] rs1452731 4 124397309 [A/G] rs1901694 4 124402023 [A/G] rs10471022 4 124410268 [A/G] rs896678 4 124417151 [T/C] rs7688738 4 124426163 [T/G] rs1993191 4 124437842 [A/C] rs6534410 4 124439866 [T/C] rs10461205 4 124450148 [T/C] rs10011590 4 124473935 [T/C] rs1806533 4 124509674 [A/G] rs6534418 4 124512827 [T/C] rs2553364 4 124519432 [A/G] rs2589850 4 124531422 [T/C] rs13115814 4 124545508 [A/C] rs2589864 4 124550693 [T/C] rs7695956 4 124570408 [A/G] rs6534420 4 124574008 [A/G] NR_027105 LOC285419 EXON Silent rs12509315 4 124592367 [T/C] NR_027105 LOC285419 Silent rs890180 4 124621650 [T/C] NR_027105 LOC285419 Silent rs12500929 4 124623291 [A/G] NR_027105 LOC285419 Silent rs1834378 4 124650005 [A/G] NR_027105 LOC285419 Silent rs4833940 4 124654530 [T/C] NR_027105 LOC285419 Silent rs17007240 4 124659199 [T/C] NR_027105 LOC285419 Silent rs6828406 4 124679431 [A/G] NR_027105 LOC285419 Silent rs1425406 4 124683891 [A/G] NR_027105 LOC285419 Silent rs1433218 4 124707000 [A/C] NR_027105,NR_027106 LOC285419,LOC285419 Silent,Silent rs4833953 4 124711445 [A/G] NR_027105,NR_027106 LOC285419,LOC285419 Silent,Silent rs2390586 4 124718116 [T/G] NR_027105,NR_027106 LOC285419,LOC285419 Silent,Silent rs1433216 4 124733305 [A/G] NR_027105,NR_027106 LOC285419,LOC285419 Silent,Silent rs1347188 4 124743259 [A/G] NR_027105,NR_027106 LOC285419,LOC285419 Silent,Silent rs1991839 4 124745047 [A/C] NR_027105,NR_027106 LOC285419,LOC285419 Silent,Silent rs3113390 4 124766115 [T/C] NR_027105,NR_027106 LOC285419,LOC285419 Silent,Silent rs1036253 4 124767640 [T/C] NR_027105,NR_027106 LOC285419,LOC285419 Silent,Silent rs4449426 4 124770843 [A/G] NR_027105,NR_027106 LOC285419,LOC285419 Silent,Silent rs986345 4 124794203 [T/C] NR_027105 LOC285419 Silent rs9991120 4 124809136 [A/C] NR_027105 LOC285419 Silent rs17492375 4 124812897 [T/C] NR_027105 LOC285419 Silent rs7691701 4 124819109 [T/C] NR_027105 LOC285419 Silent rs1433220 4 124833001 [A/G] NR_027105 LOC285419 Silent rs13151047 4 124850901 [A/G] NR_027105 LOC285419 Silent rs1022373 4 124859063 [A/G] rs1996580 4 124871513 [A/G] rs9998439 4 124888965 [A/G] rs9307533 4 124891140 [T/C] rs4833961 4 124891317 [A/G] rs1519225 4 124910861 [T/C] rs12641524 4 124929001 [A/C] rs10018559 4 124946684 [T/C] rs17756952 4 124955670 [A/C] rs10003267 4 124966525 [T/C] rs13152069 4 125034218 [T/C] rs11098739 4 125077863 [T/C] rs893558 4 125078861 [A/G] rs17007871 4 125102345 [A/G] rs7664648 4 125104155 [A/G] rs6834028 4 125109084 [A/G] kgp9322623 4 125119661 [T/C] kgp10125430 4 125120170 [T/C] rs7680675 4 125175239 [A/G] rs725001 4 125188048 [T/C] rs13145092 4 125209067 [T/C] rs11735374 4 125220846 [A/G] rs10518427 4 125225084 [T/C] rs2125000 4 125265313 [T/C] rs17008065 4 125265324 [A/G] rs672858 4 125266797 [A/G] rs593371 4 125268531 [A/G] rs640246 4 125280852 [A/G] rs9999775 4 125296033 [T/C] exm2269965 4 125318885 [T/C] rs17008117 4 125320611 [T/C] rs1851689 4 125326845 [A/G] rs7691579 4 125332916 [T/C] rs7655016 4 125361767 [A/G] rs6839627 4 125379709 [T/C] rs11936470 4 125380922 [A/G] exm2256325 4 125380922 [A/G] rs13119813 4 125399775 [T/C] rs962939 4 125404239 [T/C] rs1492753 4 125421325 [A/G] rs12641839 4 125427661 [T/C] rs10029005 4 125451364 [A/G] rs1509524 4 125455038 [A/G] rs11946186 4 125457073 [T/C] rs1567396 4 125465163 [A/G] rs1092825 4 125480782 [A/G] rs7677431 4 125500592 [T/G] rs2048265 4 125512711 [T/C] rs4833990 4 125513521 [T/C] rs12649449 4 125515296 [T/G] rs4833993 4 125519380 [T/C] rs1498012 4 125526281 [T/C] rs10006893 4 125582871 [A/G] exm423051 4 125590277 [T/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_M1385I,Missense_M1206I var_4_125590285 4 125590285 [A/G] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Nonsense_R1383X,Nonsense_R1204X rs1874748 4 125590478 [T/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Synonymous_P1318P,Synonymous_P1139P indel.82753 4 125590483 [D/I] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON exm423056 4 125590489 [T/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_T1315A,Missense_T1136A exm423057 4 125590492 [T/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_G1314R,Missense_G1135R indel.82754 4 125590576 [I/D] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON exm423087 4 125591188 [T/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_M1082V,Missense_M903V exm423088 4 125591194 [T/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_T1080A,Missense_T901A exm423091 4 125591345 [G/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_Q1029H,Missense_Q850H exm423113 4 125591832 [A/G] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_I867T,Missense_I688T exm423154 4 125592643 [A/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_L597V,Missense_L418V exm423164 4 125592846 [T/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_R529Q,Missense_R350Q exm423181 4 125593261 [T/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_I391V,Missense_I212V exm423193 4 125593633 [G/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_Q267E,Missense_Q88E exm423199 4 125599898 [T/A] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_F225L,Missense_F46L exm423204 4 125599975 [A/T] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_I200F,Missense_I21F indel.82755 4 125600012 [I/D] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON rs7656458 4 125602470 [T/C] NM_020337,NM_001167882 ANKRD50,ANKRD50 Silent,Silent exm423213 4 125631261 [A/G] NM_020337,NM_001167882 ANKRD50,ANKRD50 EXON Missense_R136C,Silent rs17008503 4 125637940 [T/C] rs10518438 4 125652879 [T/C] rs10518436 4 125653594 [T/C] rs17772791 4 125659471 [T/C] rs10008933 4 125659601 [A/G] rs10020316 4 125668245 [A/G] rs2036203 4 125675055 [A/G] rs1506551 4 125683296 [A/G] rs993704 4 125712060 [A/G] rs11931944 4 125720431 [A/G] rs10518444 4 125726204 [T/C] rs10518443 4 125728477 [A/G] rs10029225 4 125732734 [T/C] rs1543936 4 125746220 [T/C] rs11934333 4 125748686 [T/C] rs1395331 4 125771540 [A/G] rs17786141 4 125781529 [T/C] rs2390740 4 125784021 [T/G] rs2086765 4 125791252 [A/G] rs10034686 4 125796096 [A/G] exm2265754 4 125807868 [A/G] rs9993168 4 125807868 [A/G] rs1506543 4 125811847 [T/G] rs1995626 4 125812575 [T/C] rs16997819 4 125813774 [T/C] rs17008804 4 125840550 [T/C] rs1909100 4 125842481 [T/C] rs1483594 4 125842641 [A/G] rs6852823 4 125856465 [A/G] rs13133741 4 125876427 [T/C] rs11723954 4 125880959 [A/G] rs12640447 4 125892629 [A/C] rs12331172 4 125894102 [A/C] rs4834012 4 125907632 [A/G] rs1498046 4 125933472 [T/C] rs1498040 4 125937256 [A/G] rs6851045 4 125956403 [A/G] rs6534456 4 125958645 [T/C] rs2647130 4 125973337 [T/C] rs1391397 4 125973565 [T/C] rs6534458 4 125976652 [T/C] rs9784420 4 125978009 [T/C] exm-rs1986655 4 125993502 [A/G] rs12512644 4 125996360 [A/G] rs2390797 4 126007059 [T/C] rs12645899 4 126007788 [T/G] rs4395523 4 126011991 [T/C] rs2390771 4 126013202 [A/G] rs13102452 4 126028567 [T/C] rs7675988 4 126036776 [T/C] rs3956574 4 126039335 [T/G] rs4129246 4 126081446 [A/G] rs6534467 4 126122232 [T/C] rs7685639 4 126138152 [T/C] rs10518459 4 126163379 [A/G] rs7676378 4 126169900 [T/C] rs9998852 4 126170152 [A/G] rs1396688 4 126176069 [A/G] rs6534472 4 126199915 [T/C] rs2663265 4 126205746 [A/G] rs11941590 4 126215371 [A/C] rs1355167 4 126216229 [T/C] rs4834025 4 126216963 [A/G] rs11735586 4 126217989 [A/G] exm423234 4 126237639 [T/C] NM_024582 FAT4 EXON Missense_L25F exm423236 4 126237697 [A/C] NM_024582 FAT4 EXON Missense_E44A exm423237 4 126237751 [C/G] NM_024582 FAT4 EXON Missense_G62A exm423248 4 126238090 [T/G] NM_024582 FAT4 EXON Missense_R175L exm423252 4 126238305 [A/C] NM_024582 FAT4 EXON Missense_P247T exm2065433 4 126238327 [T/A] NM_024582 FAT4 EXON Missense_H254L exm423258 4 126238395 [A/G] NM_024582 FAT4 EXON Missense_A277T exm423277 4 126238838 [A/C] NM_024582 FAT4 EXON Missense_S424R exm423281 4 126238924 [A/T] NM_024582 FAT4 EXON Missense_Q453L exm423297 4 126239421 [T/C] NM_024582 FAT4 EXON Missense_R619C exm2275769 4 126239782 [A/G] NM_024582 FAT4 EXON Missense_N739S exm423321 4 126239986 [T/C] NM_024582 FAT4 EXON Missense_A807V rs1039808 4 126239986 [T/C] NM_024582 FAT4 EXON Missense_A807V exm423326 4 126240377 [T/G] NM_024582 FAT4 EXON Missense_K937N exm423331 4 126240463 [T/C] NM_024582 FAT4 EXON Missense_I966T exm2256327 4 126240485 [T/C] NM_024582 FAT4 EXON Synonymous_V973V exm423334 4 126240485 [T/C] NM_024582 FAT4 EXON Synonymous_V973V rs2940779 4 126240510 [T/C] NM_024582 FAT4 EXON Synonymous_L982L exm423337 4 126240615 [A/G] NM_024582 FAT4 EXON Missense_K1017E exm423343 4 126240744 [T/C] NM_024582 FAT4 EXON Missense_R1060C exm423345 4 126240778 [T/C] NM_024582 FAT4 EXON Missense_V1071A exm423352 4 126240968 [A/T] NM_024582 FAT4 EXON Missense_E1134D exm423354 4 126240990 [A/G] NM_024582 FAT4 EXON Missense_V1142M exm423358 4 126241071 [T/C] NM_024582 FAT4 EXON Missense_R1169W exm423362 4 126241208 [T/G] NM_024582 FAT4 EXON Missense_F1214L exm423365 4 126241248 [G/C] NM_024582 FAT4 EXON Missense_Q1228E exm423368 4 126241335 [C/G] NM_024582 FAT4 EXON Missense_Q1257E exm423372 4 126241528 [T/C] NM_024582 FAT4 EXON Missense_F1321S exm423377 4 126241647 [A/G] NM_024582 FAT4 EXON Missense_G1361R exm423380 4 126241720 [T/C] NM_024582 FAT4 EXON Missense_L1385S exm423381 4 126241735 [T/C] NM_024582 FAT4 EXON Missense_I1390T exm423383 4 126241785 [A/G] NM_024582 FAT4 EXON Missense_V1407I exm423384 4 126241816 [A/C] NM_024582 FAT4 EXON Missense_P1417H exm423388 4 126241869 [A/G] NM_024582 FAT4 EXON Missense_I1435V exm423393 4 126241998 [A/C] NM_024582 FAT4 EXON Missense_I1478L exm423413 4 126242519 [A/G] NM_024582 FAT4 EXON Missense_I1651M indel.82757 4 126242586 [I/D] NM_024582 FAT4 EXON rs2710534 4 126252650 [A/G] NM_024582 FAT4 Silent rs10034706 4 126255544 [A/G] NM_024582 FAT4 Silent rs1355164 4 126262415 [A/G] NM_024582 FAT4 Silent rs11737230 4 126267588 [A/G] NM_024582 FAT4 Silent rs2710562 4 126275373 [T/C] NM_024582 FAT4 Silent rs2710560 4 126280006 [T/C] NM_024582 FAT4 Silent rs17193280 4 126281130 [T/C] NM_024582 FAT4 Silent rs992122 4 126281438 [A/G] NM_024582 FAT4 Silent rs10008685 4 126291340 [T/C] NM_024582 FAT4 Silent rs12650847 4 126306884 [A/C] NM_024582 FAT4 Silent rs1912044 4 126313149 [A/G] NM_024582 FAT4 Silent variant.82758 4 126315160 [T/G] NM_024582 FAT4 Silent exm423425 4 126320038 [A/G] NM_024582 FAT4 EXON Missense_I1759V exm423433 4 126328107 [A/G] NM_024582 FAT4 EXON Missense_G1794R exm423435 4 126328128 [T/C] NM_024582 FAT4 EXON Missense_R1801W exm423446 4 126329626 [T/C] NM_024582 FAT4 EXON Missense_T1866M exm423458 4 126329821 [A/G] NM_024582 FAT4 EXON Missense_Y1931C exm423464 4 126336089 [A/C] NM_024582 FAT4 EXON Missense_Q1991K exm423465 4 126336105 [A/G] NM_024582 FAT4 EXON Missense_K1996R exm423470 4 126336212 [A/G] NM_024582 FAT4 EXON Missense_T2032A exm2256328 4 126336265 [A/G] NM_024582 FAT4 EXON Synonymous_P2049P exm423482 4 126336596 [A/G] NM_024582 FAT4 EXON Missense_K2160E exm423497 4 126336849 [T/C] NM_024582 FAT4 EXON Missense_T2244M exm423499 4 126336851 [A/G] NM_024582 FAT4 EXON Missense_V2245I exm423508 4 126337736 [T/C] NM_024582 FAT4 EXON Missense_T2326I exm423509 4 126337744 [T/C] NM_024582 FAT4 EXON Missense_R2329C rs17009641 4 126351995 [A/G] NM_024582 FAT4 Silent rs1395233 4 126354307 [T/G] NM_024582 FAT4 Silent exm423513 4 126355433 [A/G] NM_024582 FAT4 EXON Missense_N2351S exm423522 4 126355528 [A/G] NM_024582 FAT4 EXON Missense_V2383I exm423524 4 126355577 [T/C] NM_024582 FAT4 EXON Missense_I2399T exm2265755 4 126357469 [A/G] NM_024582 FAT4 Silent rs17009673 4 126366934 [T/C] NM_024582 FAT4 Silent exm423526 4 126367479 [A/T] NM_024582 FAT4 EXON Missense_T2409S exm423528 4 126367512 [A/T] NM_024582 FAT4 EXON Missense_S2420C exm423532 4 126367606 [T/G] NM_024582 FAT4 EXON Missense_S2451I exm423534 4 126369617 [T/C] NM_024582 FAT4 EXON Synonymous_G2482G exm423536 4 126369744 [A/G] NM_024582 FAT4 EXON Missense_A2525T exm423545 4 126369952 [T/C] NM_024582 FAT4 EXON Missense_L2594S exm423555 4 126370243 [T/C] NM_024582 FAT4 EXON Missense_S2691L exm423567 4 126370455 [A/C] NM_024582 FAT4 EXON Missense_N2762H indel.82760 4 126370567 [D/I] NM_024582 FAT4 EXON exm423574 4 126370647 [A/G] NM_024582 FAT4 EXON Missense_D2826N exm423584 4 126370896 [T/C] NM_024582 FAT4 EXON Missense_Y2909H exm423586 4 126370986 [A/G] NM_024582 FAT4 EXON Missense_T2939A exm423587 4 126371007 [A/G] NM_024582 FAT4 EXON Missense_I2946V exm423613 4 126371767 [A/G] NM_024582 FAT4 EXON Missense_Y3199C exm423616 4 126371814 [T/C] NM_024582 FAT4 EXON Missense_H3215Y indel.82761 4 126371829 [D/I] NM_024582 FAT4 EXON exm423638 4 126372200 [T/G] NM_024582 FAT4 EXON Missense_K3343N exm423660 4 126372725 [A/G] NM_024582 FAT4 EXON Missense_M3518I exm423662 4 126372735 [T/C] NM_024582 FAT4 EXON Missense_R3522W exm423664 4 126372742 [A/G] NM_024582 FAT4 EXON Missense_G3524D exm423673 4 126372975 [A/C] NM_024582 FAT4 EXON Missense_I3602L exm423675 4 126373018 [T/C] NM_024582 FAT4 EXON Missense_T3616M exm423680 4 126373218 [A/G] NM_024582 FAT4 EXON Missense_V3683I exm423687 4 126373318 [A/G] NM_024582 FAT4 EXON Missense_R3716H exm423689 4 126373425 [A/G] NM_024582 FAT4 EXON Missense_S3752G exm423696 4 126373543 [T/C] NM_024582 FAT4 EXON Missense_L3791P exm423698 4 126373570 [T/C] NM_024582 FAT4 EXON Missense_S3800F exm423699 4 126373594 [A/G] NM_024582 FAT4 EXON Missense_H3808R exm423702 4 126373653 [A/G] NM_024582 FAT4 EXON Missense_K3828E exm423706 4 126373789 [A/G] NM_024582 FAT4 EXON Missense_S3873N exm2256329 4 126373835 [T/C] NM_024582 FAT4 EXON Synonymous_C3888C exm423708 4 126373858 [T/C] NM_024582 FAT4 EXON Missense_A3896V rs10518466 4 126380367 [A/G] NM_024582 FAT4 Silent rs4146009 4 126384595 [T/C] NM_024582 FAT4 Silent exm423719 4 126389778 [T/C] NM_024582 FAT4 EXON Missense_T4004M exm423722 4 126389793 [T/C] NM_024582 FAT4 EXON Missense_A4009V exm423724 4 126389831 [T/C] NM_024582 FAT4 EXON Missense_R4022W exm423725 4 126389832 [A/G] NM_024582 FAT4 EXON Missense_R4022Q exm423727 4 126389846 [A/G] NM_024582 FAT4 EXON Missense_A4027T rs6828096 4 126391828 [A/G] NM_024582 FAT4 Silent exm423737 4 126398352 [C/G] NM_024582 FAT4 EXON Missense_I4112M rs1506360 4 126398824 [A/G] NM_024582 FAT4 Silent exm423750 4 126400922 [T/C] NM_024582 FAT4 EXON Missense_T4167I exm2240417 4 126400970 [T/G] NM_024582 FAT4 EXON Missense_W4183L exm423754 4 126402718 [A/G] NM_024582 FAT4 EXON Missense_R4214H exm423757 4 126402750 [T/C] NM_024582 FAT4 EXON Missense_R4225W exm423759 4 126402787 [T/C] NM_024582 FAT4 EXON Missense_M4237T exm423760 4 126402840 [A/G] NM_024582 FAT4 EXON Missense_E4255K exm423765 4 126408528 [T/C] NM_024582 FAT4 EXON Missense_S4282F newrs148483308 4 126408554 [T/G] NM_024582 FAT4 EXON Nonsense_E4291X exm423773 4 126408663 [A/G] NM_024582 FAT4 EXON Missense_D4327G exm423782 4 126411082 [A/G] NM_024582 FAT4 EXON Missense_M4369V exm423791 4 126411388 [A/G] NM_024582 FAT4 EXON Missense_V4471I exm423807 4 126411605 [T/C] NM_024582 FAT4 EXON Missense_P4543L exm423815 4 126411773 [T/C] NM_024582 FAT4 EXON Missense_P4599L exm423833 4 126412154 [A/G] NM_024582 FAT4 EXON Missense_R4726K exm423840 4 126412283 [A/G] NM_024582 FAT4 EXON Missense_R4769H exm423860 4 126412558 [A/G] NM_024582 FAT4 EXON Missense_M4861V exm423863 4 126412634 [G/C] NM_024582 FAT4 EXON Missense_A4886G exm423864 4 126412637 [A/G] NM_024582 FAT4 EXON Missense_R4887K exm423879 4 126412891 [T/C] NM_024582 FAT4 EXON Missense_P4972S exm2240420 4 126412906 [A/G] NM_024582 FAT4 EXON Missense_A4977T rs10031677 4 126414605 [A/G] rs10518469 4 126419726 [A/G] exm-rs12639834 4 126426695 [T/C] rs950063 4 126431919 [T/C] exm-rs950063 4 126431919 [T/C] rs1156232 4 126433214 [T/C] rs1532881 4 126435279 [A/C] rs1567049 4 126447482 [T/C] rs10003468 4 126451148 [T/C] rs10518471 4 126454911 [A/G] rs4834056 4 126456859 [T/C] rs11098817 4 126462071 [A/G] rs12500867 4 126476695 [A/G] rs6818629 4 126490303 [A/G] rs1429901 4 126500482 [A/G] rs4507376 4 126515470 [T/C] rs1864363 4 126524825 [A/C] rs1346715 4 126535676 [T/C] rs6534495 4 126540305 [A/G] rs6836731 4 126556868 [T/C] rs12643523 4 126561331 [A/C] rs13140903 4 126561925 [A/G] rs4834060 4 126572145 [A/C] rs34095747 4 126576950 [T/G] rs17010234 4 126593304 [T/C] rs17010239 4 126599698 [T/C] rs6844035 4 126603140 [T/C] rs10021276 4 126647502 [A/G] exm2269837 4 126654773 [T/G] rs4406033 4 126667528 [T/C] rs10018249 4 126683716 [A/G] rs4446326 4 126688743 [T/G] rs10013424 4 126694369 [A/G] rs4394015 4 126696308 [T/C] rs7678929 4 126709492 [T/C] rs10222842 4 126741907 [T/G] rs9998979 4 126742571 [T/C] rs6854255 4 126747317 [A/G] rs4541524 4 126749816 [T/C] rs4077738 4 126749905 [T/C] rs12506206 4 126752842 [A/G] rs4590050 4 126754145 [A/G] rs12513118 4 126763987 [A/C] rs10026451 4 126779459 [A/G] rs10857108 4 126780071 [A/G] exm-rs2390896 4 126798536 [A/G] rs12645313 4 126799654 [A/G] rs3956582 4 126808685 [T/C] rs10518477 4 126811649 [T/C] rs1506169 4 126812573 [A/G] rs9307579 4 126813075 [A/C] rs4348108 4 126864721 [T/C] rs17224022 4 126875119 [A/G] rs12500213 4 126877070 [T/G] rs7691677 4 126880304 [T/C] rs13128559 4 126891842 [A/C] rs7665514 4 126892733 [A/C] rs12641642 4 126902635 [A/G] rs12651652 4 126910178 [T/C] rs1021940 4 126915614 [A/C] rs7434822 4 126931623 [A/G] rs10026567 4 126932102 [T/G] rs2390939 4 126943520 [A/G] rs12644234 4 126947359 [T/G] rs4834082 4 126949007 [A/G] rs9985873 4 126959315 [A/G] rs7656535 4 126975201 [T/C] rs4279227 4 126976466 [A/G] rs2271873 4 126989652 [T/C] rs17010643 4 126991110 [T/C] rs17010666 4 127006583 [A/C] rs9686033 4 127027927 [A/G] rs11721735 4 127037075 [T/C] rs7685518 4 127041554 [A/G] rs11098856 4 127043282 [A/G] rs2062209 4 127045418 [A/G] rs13146295 4 127048641 [T/C] rs561662 4 127072596 [T/C] rs17010784 4 127096872 [A/G] rs4144814 4 127123816 [T/C] rs6829892 4 127134711 [T/C] rs17835005 4 127171396 [A/C] rs7683349 4 127201582 [T/C] rs7666758 4 127201933 [T/C] rs10011584 4 127213903 [T/G] rs10213170 4 127224641 [T/C] rs1320244 4 127235715 [A/C] rs6852950 4 127243397 [A/G] rs17836083 4 127247924 [A/G] rs6534545 4 127249062 [T/C] rs11938961 4 127255447 [T/C] rs6534550 4 127260284 [T/C] rs12500408 4 127264759 [T/G] rs12509279 4 127267782 [T/C] rs6534554 4 127283300 [A/G] rs12508982 4 127287894 [T/G] rs13110774 4 127290078 [A/G] rs7694254 4 127296342 [A/C] exm2256333 4 127304595 [A/G] rs17011033 4 127309605 [A/G] rs553145 4 127309862 [T/C] rs545314 4 127313506 [T/C] rs12647099 4 127336047 [A/G] rs636729 4 127337839 [T/C] rs2391054 4 127343002 [T/C] rs6534562 4 127351139 [T/C] rs12498806 4 127363097 [T/C] rs4833346 4 127365329 [A/G] rs1508983 4 127373021 [T/C] rs10016992 4 127378114 [A/G] rs12647338 4 127382084 [T/C] rs6822951 4 127399765 [A/C] rs7699051 4 127404615 [T/G] exm2261603 4 127412444 [T/C] rs7673418 4 127419470 [T/C] rs7698081 4 127431975 [A/C] rs17011171 4 127438435 [A/G] rs1397676 4 127440009 [T/G] rs17011180 4 127440570 [T/C] rs1543000 4 127458938 [A/G] rs17257398 4 127473539 [A/G] rs313098 4 127485630 [A/C] rs313106 4 127518225 [T/C] rs17258452 4 127525092 [A/G] rs7695327 4 127525235 [A/G] rs1511144 4 127535445 [A/G] rs447507 4 127551274 [A/G] rs17011345 4 127551516 [A/G] rs11944598 4 127552082 [A/G] rs313045 4 127562447 [A/G] rs386871 4 127580432 [A/G] rs313055 4 127597069 [T/C] rs398578 4 127605685 [A/C] rs17011412 4 127607021 [A/G] rs1552665 4 127609379 [T/C] rs17011442 4 127622803 [A/G] rs313048 4 127624935 [T/C] rs7697724 4 127638432 [A/C] rs2654715 4 127644271 [T/C] rs2969612 4 127646765 [T/C] rs6846559 4 127649306 [A/G] rs10857117 4 127655701 [A/G] rs1388240 4 127657442 [A/C] rs17011528 4 127660479 [A/G] rs13121471 4 127663216 [A/G] rs7688921 4 127700428 [T/C] rs1503626 4 127706053 [A/G] rs4834142 4 127712289 [A/G] rs12642632 4 127727154 [A/G] rs13130797 4 127745441 [A/G] rs4834144 4 127773649 [A/G] rs17272221 4 127774985 [T/C] rs13114412 4 127779997 [A/G] rs4270599 4 127788899 [T/C] rs1910441 4 127792639 [T/C] rs4000747 4 127794497 [A/G] rs4833358 4 127822133 [A/G] rs10001654 4 127822314 [A/C] rs6534591 4 127825185 [A/G] rs17011836 4 127827145 [T/G] rs1510694 4 127862511 [T/C] exm2265757 4 127889513 [A/G] rs1533089 4 127892410 [T/C] rs4834162 4 127925448 [A/G] rs17277733 4 127972630 [T/G] rs340446 4 127977716 [T/C] rs6834065 4 127978786 [T/C] rs17278402 4 127991638 [T/C] rs7670859 4 127993106 [T/C] rs6852817 4 128005362 [T/C] rs13107241 4 128046856 [T/G] rs1155135 4 128064562 [A/G] rs1026824 4 128072800 [T/C] exm2269838 4 128079327 [T/C] rs6837753 4 128079327 [T/C] rs11726994 4 128097963 [T/C] rs6831679 4 128113424 [A/G] rs12498324 4 128132034 [T/C] rs4997057 4 128158126 [T/C] rs967532 4 128160430 [A/G] rs1899548 4 128167093 [T/C] rs17012285 4 128173818 [T/C] kgp4230152 4 128189764 [A/G] kgp20946465 4 128190319 [T/C] rs995314 4 128232855 [A/G] rs4364275 4 128242730 [T/C] rs10428477 4 128290263 [A/G] rs6534619 4 128316887 [A/G] rs6833784 4 128328168 [T/C] rs1443165 4 128335450 [A/G] rs2034077 4 128337411 [A/G] rs724950 4 128342120 [T/C] rs17012435 4 128367991 [A/G] rs7679411 4 128392771 [T/G] rs2002543 4 128410916 [T/C] rs2391184 4 128419398 [T/C] rs17012484 4 128441567 [A/C] rs12509921 4 128454610 [A/G] rs10007344 4 128474999 [T/C] rs10005550 4 128478408 [A/G] rs1008995 4 128487450 [T/G] rs10434049 4 128528617 [A/G] rs10857124 4 128534796 [T/C] rs9942183 4 128553889 [A/G] exm423889 4 128554281 [A/T] NM_015693 INTU EXON Missense_F31Y exm423890 4 128554293 [T/C] NM_015693 INTU EXON Missense_V35A exm423892 4 128564885 [C/G] NM_015693 INTU EXON Missense_R119T exm423893 4 128564909 [A/G] NM_015693 INTU EXON Missense_R127H exm423900 4 128564996 [A/T] NM_015693 INTU EXON Missense_Q156L rs3749507 4 128565000 [A/G] NM_015693 INTU EXON Synonymous_R157R exm423905 4 128565136 [A/G] NM_015693 INTU EXON Missense_G203S exm423910 4 128565197 [A/G] NM_015693 INTU EXON Missense_G223D rs6847397 4 128569904 [T/C] NM_015693 INTU Silent exm423912 4 128577820 [A/G] NM_015693 INTU EXON Missense_D238N var_4_128584593 4 128584593 [T/C] NM_015693 INTU EXON Nonsense_Q276X rs17012567 4 128604159 [T/C] NM_015693 INTU Silent rs2125573 4 128607832 [T/C] NM_015693 INTU Silent exm2274047 4 128608896 [A/C] NM_015693 INTU EXON Missense_R441S exm423930 4 128608907 [A/C] NM_015693 INTU EXON Missense_P445H exm423934 4 128608927 [A/G] NM_015693 INTU EXON Missense_A452T exm423935 4 128608933 [T/C] NM_015693 INTU EXON Missense_P454S exm423947 4 128626829 [A/T] NM_015693 INTU EXON Missense_L550F indel.82765 4 128627718 [D/I] NM_015693 INTU EXON exm423953 4 128627733 [A/G] NM_015693 INTU EXON Missense_Q627R exm423957 4 128627874 [T/C] NM_015693 INTU EXON Missense_S674L exm423959 4 128627927 [T/G] NM_015693 INTU EXON Missense_C692G exm423962 4 128627967 [A/G] NM_015693 INTU EXON Missense_R705H exm423964 4 128627984 [T/C] NM_015693 INTU EXON Missense_C711R exm423966 4 128628020 [A/G] NM_015693 INTU EXON Missense_G723R exm423969 4 128628045 [A/G] NM_015693 INTU EXON Missense_H731R exm423971 4 128628066 [A/G] NM_015693 INTU EXON Missense_R738Q exm423972 4 128628100 [A/C] NM_015693 INTU EXON Missense_L749F variant.82767 4 128628129 [T/G] NM_015693 INTU Silent exm423982 4 128632210 [T/C] NM_015693 INTU EXON Missense_C838R variant.82768 4 128637505 [T/C] NM_015693 INTU EXON Nonsense_Q915X exm2269839 4 128647518 [T/C] rs17012586 4 128651021 [A/G] exm423993 4 128651703 [T/G] NM_031291 SLC25A31 EXON Missense_M1I exm423996 4 128651726 [A/G] NM_031291 SLC25A31 EXON Missense_K9R exm2065617 4 128651914 [T/C] NM_031291 SLC25A31 EXON Missense_R72W exm424015 4 128685491 [T/C] NM_031291 SLC25A31 EXON Nonsense_R152X variant.82770 4 128688340 [T/C] NM_031291 SLC25A31 EXON Nonsense_R200X variant.82771 4 128688375 [A/G] NM_031291 SLC25A31 EXON Synonymous_K211K rs2305958 4 128689936 [A/G] NM_031291 SLC25A31 EXON Synonymous_P221P exm424026 4 128694557 [A/G] NM_031291 SLC25A31 EXON Missense_R259Q exm424028 4 128694623 [T/C] NM_031291 SLC25A31 EXON Missense_F281S exm424033 4 128694706 [T/C] NM_031291 SLC25A31 EXON Missense_H309Y rs11098937 4 128697519 [T/C] exm424045 4 128715251 [T/C] NM_014278 HSPA4L EXON Missense_S43P exm424046 4 128715260 [T/C] NM_014278 HSPA4L EXON Nonsense_R46X exm424052 4 128717043 [A/G] NM_014278 HSPA4L EXON Missense_N96D variant.82775 4 128719740 [A/C] NM_014278 HSPA4L Silent exm424054 4 128719746 [A/G] NM_014278 HSPA4L EXON Missense_R104Q exm424057 4 128722347 [A/G] NM_014278 HSPA4L EXON Missense_V162I exm424058 4 128722949 [T/C] NM_014278 HSPA4L EXON Missense_A180V variant.82777 4 128723020 [T/G] NM_014278 HSPA4L EXON Nonsense_G204X exm424064 4 128724955 [A/G] NM_014278 HSPA4L EXON Missense_A279T exm424068 4 128725188 [A/G] NM_014278 HSPA4L EXON Missense_A311T variant.82779 4 128725242 [A/G] NM_014278 HSPA4L EXON Missense_N329D exm424078 4 128729179 [T/C] NM_014278 HSPA4L EXON Missense_P425S exm424084 4 128732695 [A/C] NM_014278 HSPA4L EXON Missense_S494R exm424091 4 128732783 [A/G] NM_014278 HSPA4L EXON Missense_D524N variant.82780 4 128739577 [T/C] NM_014278 HSPA4L Silent exm424097 4 128741611 [T/C] NM_014278 HSPA4L EXON Missense_L568S exm424099 4 128741665 [A/G] NM_014278 HSPA4L EXON Missense_S586N exm424101 4 128741710 [T/C] NM_014278 HSPA4L EXON Missense_I601T indel.82782 4 128743975 [I/D] NM_014278 HSPA4L EXON exm2065662 4 128744681 [A/C] NM_014278 HSPA4L EXON Missense_K650Q exm424108 4 128748467 [A/G] NM_014278 HSPA4L EXON Missense_G685D exm2256338 4 128751804 [T/C] NM_014278 HSPA4L EXON Synonymous_Y726Y exm424111 4 128751815 [A/C] NM_014278 HSPA4L EXON Missense_D730A exm424124 4 128802306 [A/G] NM_014264,NM_001190799 PLK4,PLK4 EXON Missense_G6E,Missense_G6E exm424141 4 128807265 [A/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_R247H,Missense_R215H,Missense_R206H 1KG_4_128807333 4 128807333 [D/I] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON exm2240423 4 128807451 [A/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_K309R,Missense_K277R,Missense_K268R exm424145 4 128807475 [T/C] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_P317L,Missense_P285L,Missense_P276L 1KG_4_128807692 4 128807692 [D/I] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON exm424179 4 128811117 [C/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_W519S,Missense_W487S,Missense_W478S exm424181 4 128811153 [T/C] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_S531F,Missense_S499F,Missense_S490F exm424185 4 128811336 [T/C] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_S592F,Missense_S560F,Missense_S551F exm424192 4 128812271 [T/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_V619L,Missense_V587L,Missense_V578L exm424203 4 128813668 [A/T] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_D729E,Missense_D697E,Missense_D688E exm424211 4 128814675 [A/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_R777H,Missense_R745H,Missense_R736H exm424213 4 128814746 [A/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_I801V,Missense_I769V,Missense_I760V exm424218 4 128814957 [T/C] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_T828M,Missense_T796M,Missense_T787M exm424219 4 128814964 [T/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_E830D,Missense_E798D,Missense_E789D rs17012739 4 128814964 [T/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_E830D,Missense_E798D,Missense_E789D exm424226 4 128816138 [A/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Missense_T865A,Missense_T833A,Missense_T824A exm2256339 4 128819618 [A/G] NM_014264,NM_001190799,NM_001190801 PLK4,PLK4,PLK4 EXON Synonymous_P945P,Synonymous_P913P,Synonymous_P904P indel.82789 4 128841812 [I/D] NM_152778 MFSD8 EXON exm424240 4 128841867 [A/G] NM_152778 MFSD8 EXON Missense_I492T variant.82790 4 128842674 [T/C] NM_152778 MFSD8 Silent exm424255 4 128842761 [A/G] NM_152778 MFSD8 EXON Missense_A423V rs3733319 4 128842761 [A/G] NM_152778 MFSD8 EXON Missense_A423V exm424256 4 128842824 [A/G] NM_152778 MFSD8 EXON Missense_S402L exm424259 4 128842893 [A/G] NM_152778 MFSD8 EXON Missense_F379S exm424264 4 128843107 [T/C] NM_152778 MFSD8 EXON Missense_R337H exm424266 4 128843111 [C/G] NM_152778 MFSD8 EXON Missense_E336Q exm424274 4 128851902 [T/C] NM_152778 MFSD8 EXON Missense_I312V exm424276 4 128851950 [T/C] NM_152778 MFSD8 EXON Missense_D296N newrs148601655 4 128859937 [A/C] NM_152778 MFSD8 Silent exm424289 4 128861050 [A/G] NM_152778 MFSD8 EXON Missense_F219S exm424290 4 128861116 [T/C] NM_152778 MFSD8 EXON Missense_G197D exm424302 4 128865140 [A/G] NM_152778 MFSD8 EXON Missense_P69L exm424311 4 128878744 [T/A] NM_152778 MFSD8 EXON Missense_E22D rs748630 4 128901402 [A/G] NM_001039717 C4orf29 Silent variant.82793 4 128904093 [A/G] NM_001039717 C4orf29 Silent exm2065738 4 128904204 [T/C] NM_001039717 C4orf29 Silent exm424319 4 128905492 [A/G] NM_001039717 C4orf29 Silent rs12645636 4 128906553 [T/C] NM_001039717 C4orf29 Silent exm424324 4 128910966 [A/G] NM_001039717 C4orf29 EXON Missense_V90I exm424334 4 128938656 [T/C] NM_001039717 C4orf29 EXON Synonymous_H203H exm424335 4 128941236 [T/C] NM_001039717 C4orf29 EXON Missense_M204T exm424339 4 128949651 [T/C] NM_001039717 C4orf29 EXON Nonsense_Q241X exm424341 4 128949799 [T/C] NM_001039717 C4orf29 EXON Missense_A290V exm424342 4 128949843 [T/C] NM_001039717 C4orf29 EXON Missense_R305C exm424343 4 128949850 [A/G] NM_001039717 C4orf29 EXON Missense_N307S exm424345 4 128949929 [A/C] NM_001039717 C4orf29 EXON Missense_S333R variant.82802 4 128951724 [T/C] NM_001039717 C4orf29 EXON Nonsense_R380X exm424348 4 128951724 [T/C] NM_001039717 C4orf29 EXON Nonsense_R380X indel.82801 4 128951725 [D/I] NM_001039717 C4orf29 EXON exm424351 4 128951772 [T/C] NM_001039717 C4orf29 EXON Nonsense_R396X rs11098945 4 128960569 [T/C] rs4834226 4 128986874 [T/C] NM_018078,NM_032239,NM_178043 LARP1B,LARP1B,LARP1B Silent,Silent,Silent exm424357 4 128998952 [A/G] NM_018078,NM_032239,NM_178043 LARP1B,LARP1B,LARP1B EXON Missense_V18I,Missense_V18I,Missense_V18I exm424370 4 129012267 [A/G] NM_018078,NM_032239,NM_178043 LARP1B,LARP1B,LARP1B EXON Missense_R157Q,Missense_R157Q,Missense_R157Q exm424376 4 129012661 [A/G] NM_018078,NM_032239,NM_178043 LARP1B,LARP1B,LARP1B EXON Missense_R221H,Missense_R221H,Missense_R221H variant.82807 4 129019372 [T/C] NM_018078,NM_032239,NM_178043 LARP1B,LARP1B,LARP1B EXON Nonsense_R234X,Nonsense_R234X,Nonsense_R234X rs4834232 4 129024273 [T/C] NM_018078,NM_032239,NM_178043 LARP1B,LARP1B,LARP1B Silent,Silent,Silent exm424382 4 129028382 [T/C] NM_018078,NM_032239,NM_178043 LARP1B,LARP1B,LARP1B EXON Missense_P301L,Missense_P301L,Missense_P301L exm424384 4 129028519 [A/C] NM_018078,NM_032239,NM_178043 LARP1B,LARP1B,LARP1B EXON Silent,Missense_Q347K,Silent exm424385 4 129035733 [G/C] NM_018078,NM_178043 LARP1B,LARP1B EXON Missense_P333A,Missense_P333A exm424392 4 129043020 [T/C] NM_018078,NM_178043 LARP1B,LARP1B EXON Missense_C401R,Missense_C401R exm424394 4 129043204 [G/C] NM_018078,NM_178043 LARP1B,LARP1B EXON Missense_P462R,Missense_P462R exm424395 4 129043230 [A/G] NM_018078,NM_178043 LARP1B,LARP1B EXON Missense_M471V,Missense_M471V exm424398 4 129043273 [A/G] NM_018078,NM_178043 LARP1B,LARP1B EXON Missense_N485S,Missense_N485S exm424403 4 129043329 [T/C] NM_018078,NM_178043 LARP1B,LARP1B EXON Missense_H504Y,Missense_H504Y exm424404 4 129043332 [A/G] NM_018078,NM_178043 LARP1B,LARP1B EXON Missense_T505A,Missense_T505A rs4417984 4 129047870 [A/G] NM_018078 LARP1B Silent rs2061571 4 129052429 [T/C] NM_018078 LARP1B Silent exm2269840 4 129052429 [T/C] NM_018078 LARP1B Silent variant.82811 4 129098035 [T/C] NM_018078 LARP1B EXON Nonsense_Q553X exm424421 4 129099709 [A/G] NM_018078 LARP1B EXON Missense_K603R exm424428 4 129100595 [A/G] NM_018078 LARP1B EXON Missense_N644S exm424430 4 129100643 [A/G] NM_018078 LARP1B EXON Missense_R660H exm424432 4 129100658 [T/C] NM_018078 LARP1B EXON Missense_S665F rs2172813 4 129104537 [A/G] NM_018078 LARP1B Silent rs6856312 4 129113495 [A/G] NM_018078 LARP1B Silent exm424436 4 129120649 [A/G] NM_018078 LARP1B EXON Missense_T687A exm424439 4 129120737 [A/G] NM_018078 LARP1B EXON Missense_R716H exm424440 4 129121697 [T/G] NM_018078 LARP1B EXON Missense_G729V exm424447 4 129121807 [A/G] NM_018078 LARP1B EXON Missense_K766E exm424448 4 129121810 [A/G] NM_018078 LARP1B EXON Missense_E767K exm424450 4 129127647 [A/G] NM_018078 LARP1B EXON Missense_I792V exm424458 4 129131153 [T/C] NM_018078 LARP1B EXON Missense_P897L newrs141017872 4 129131153 [T/C] NM_018078 LARP1B EXON Missense_P897L exm424459 4 129131162 [T/C] NM_018078 LARP1B EXON Missense_S900F exm424460 4 129131164 [T/C] NM_018078 LARP1B EXON Missense_P901S rs6534672 4 129142079 [T/C] rs12510308 4 129149880 [T/G] rs11726595 4 129189040 [T/C] variant.82816 4 129193526 [A/G] NM_006320 PGRMC2 EXON Nonsense_Q213X exm424472 4 129208629 [T/C] NM_006320 PGRMC2 EXON Missense_E130G exm424475 4 129208660 [A/G] NM_006320 PGRMC2 EXON Missense_P120S rs6845290 4 129217267 [A/G] rs1391980 4 129218126 [T/C] rs6534677 4 129221901 [T/C] rs10001857 4 129223349 [T/C] rs11098956 4 129244451 [A/G] rs4975181 4 129247395 [A/G] rs17337491 4 129254598 [A/G] rs11723210 4 129281445 [T/C] rs1982904 4 129282956 [T/G] rs11098961 4 129315804 [T/C] rs17013269 4 129336928 [A/G] rs11098966 4 129346970 [T/C] rs10021346 4 129349449 [A/G] rs6850541 4 129373016 [A/G] rs9307607 4 129375881 [T/C] rs6534683 4 129382308 [T/C] rs17013332 4 129382634 [A/G] rs6840580 4 129389738 [A/G] rs13134269 4 129412788 [T/C] rs6821705 4 129439313 [A/C] rs6534689 4 129441798 [A/G] rs4975235 4 129447957 [T/G] rs1603886 4 129450677 [T/C] rs1032673 4 129465489 [A/C] rs7678706 4 129471494 [A/G] rs12510203 4 129477529 [T/C] rs12644043 4 129482193 [A/G] rs17013486 4 129495243 [T/C] rs1216394 4 129509265 [T/C] rs10518534 4 129526565 [A/G] rs1216405 4 129527656 [T/C] rs1216411 4 129529446 [A/G] rs1216412 4 129529604 [A/G] exm2265869 4 129543559 [A/G] rs1216440 4 129543559 [A/G] rs7670660 4 129558393 [A/G] rs1615523 4 129568096 [T/C] rs1553142 4 129587449 [A/G] rs1553143 4 129587598 [T/C] rs17013593 4 129593111 [A/G] rs6856260 4 129611736 [T/C] rs13147397 4 129646870 [T/C] rs6534699 4 129651071 [T/C] rs1425619 4 129654251 [A/G] rs4975249 4 129676063 [A/G] rs17013657 4 129679066 [T/C] rs17013678 4 129694008 [A/G] exm2256342 4 129694554 [T/C] rs11098986 4 129700043 [A/G] rs9991981 4 129713511 [A/G] rs13143771 4 129729412 [T/C] rs10017436 4 129737089 [A/G] NM_024900,NM_199320 PHF17,PHF17 Silent,Silent rs17013734 4 129746735 [T/C] NM_024900,NM_199320 PHF17,PHF17 Silent,Silent exm424508 4 129770150 [T/G] NM_024900,NM_199320 PHF17,PHF17 EXON Missense_E104D,Missense_E104D variant.82820 4 129773428 [A/G] NM_024900,NM_199320 PHF17,PHF17 Silent,Silent exm424532 4 129783034 [A/G] NM_024900,NM_199320 PHF17,PHF17 EXON Missense_N386S,Missense_N386S exm424536 4 129783085 [T/G] NM_024900,NM_199320 PHF17,PHF17 EXON Missense_L403R,Missense_L403R exm2065838 4 129789121 [A/T] NM_199320 PHF17 EXON Missense_R538S exm2240427 4 129792588 [T/C] NM_199320 PHF17 EXON Missense_P567L exm424554 4 129792810 [A/G] NM_199320 PHF17 EXON Missense_R641H exm424556 4 129792873 [A/G] NM_199320 PHF17 EXON Missense_N662S exm424568 4 129793194 [T/C] NM_199320 PHF17 EXON Missense_A769V var_4_129793235 4 129793235 [T/C] NM_199320 PHF17 EXON Nonsense_R783X exm424571 4 129793242 [T/C] NM_199320 PHF17 EXON Missense_P785L exm424572 4 129793277 [A/G] NM_199320 PHF17 EXON Missense_D797N rs11940298 4 129803970 [A/G] exm424582 4 129805634 [A/G] NM_144643 SCLT1 EXON Missense_X689Q exm424590 4 129812279 [G/C] NM_144643 SCLT1 EXON Missense_R615G rs186444 4 129825629 [A/G] NM_144643 SCLT1 Silent rs318543 4 129836255 [T/C] NM_144643 SCLT1 Silent rs318549 4 129838879 [T/C] NM_144643 SCLT1 Silent exm424602 4 129857969 [T/C] NM_144643 SCLT1 EXON Missense_R557H rs6840353 4 129860963 [T/C] NM_144643 SCLT1 Silent rs2034497 4 129862073 [T/C] NM_144643 SCLT1 Silent indel.82823 4 129864163 [I/D] NM_144643 SCLT1 EXON indel.82824 4 129864184 [I/D] NM_144643 SCLT1 EXON exm424609 4 129864275 [T/C] NM_144643 SCLT1 EXON Missense_R503K exm424615 4 129867228 [T/C] NM_144643 SCLT1 EXON Missense_R458H exm424616 4 129867280 [A/T] NM_144643 SCLT1 EXON Missense_S441C exm424617 4 129867300 [T/C] NM_144643 SCLT1 EXON Missense_R434H exm424619 4 129867307 [A/T] NM_144643 SCLT1 EXON Missense_I432F exm424621 4 129869706 [T/C] NM_144643 SCLT1 EXON Missense_G413D exm424622 4 129869725 [T/C] NM_144643 SCLT1 EXON Missense_E407K rs4975288 4 129873147 [T/C] NM_144643 SCLT1 Silent variant.82826 4 129873956 [A/G] NM_144643 SCLT1 EXON Nonsense_R396X exm424623 4 129873962 [T/C] NM_144643 SCLT1 EXON Missense_I394V exm424631 4 129878265 [C/G] NM_144643 SCLT1 EXON Missense_E354D indel.82827 4 129880759 [D/I] NM_144643 SCLT1 EXON exm424640 4 129891542 [A/C] NM_144643 SCLT1 EXON Missense_M256I exm424645 4 129891583 [T/C] NM_144643 SCLT1 EXON Missense_E243K exm424646 4 129913335 [A/G] NM_144643 SCLT1 EXON Nonsense_R225X exm424648 4 129913352 [A/G] NM_144643 SCLT1 EXON Missense_V219A exm2240431 4 129913370 [A/G] NM_144643 SCLT1 EXON Missense_T213I rs280601 4 129914268 [T/C] NM_144643 SCLT1 Silent exm424650 4 129920837 [T/C] NM_144643 SCLT1 EXON Missense_Q180R exm424652 4 129920929 [T/A] NM_144643 SCLT1 EXON Missense_E149D exm424667 4 129925010 [T/A] NM_144643 SCLT1 EXON Missense_D104E rs2044523 4 129927804 [T/C] NM_144643 SCLT1 Silent variant.82830 4 129964549 [T/C] NM_144643 SCLT1 Silent rs789982 4 129999071 [T/C] NM_144643 SCLT1 Silent rs1699388 4 130003237 [T/C] NM_144643 SCLT1 Silent exm424680 4 130003526 [A/G] NM_144643 SCLT1 EXON Nonsense_R13X indel.82833 4 130023873 [I/D] NM_173487,NM_001099783 C4orf33,C4orf33 EXON exm424687 4 130023884 [T/G] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_R40M,Missense_R40M exm424692 4 130027763 [A/G] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_N68S,Missense_N68S variant.82835 4 130030461 [A/G] NM_173487,NM_001099783 C4orf33,C4orf33 Silent,Silent variant.82836 4 130030514 [A/G] NM_173487,NM_001099783 C4orf33,C4orf33 Silent,Silent rs2271570 4 130030644 [T/C] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_S104L,Missense_S104L exm424702 4 130030644 [T/C] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_S104L,Missense_S104L rs337277 4 130030652 [A/G] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_M107V,Missense_M107V exm424703 4 130030652 [A/G] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_M107V,Missense_M107V exm424704 4 130030718 [A/G] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_V129M,Missense_V129M rs337276 4 130030944 [A/C] NM_173487,NM_001099783 C4orf33,C4orf33 Silent,Silent exm424710 4 130032843 [A/G] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_H166R,Missense_H166R exm424711 4 130032847 [A/C] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Nonsense_C167X,Nonsense_C167X exm424712 4 130032857 [T/G] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_F171V,Missense_F171V exm424717 4 130032945 [A/G] NM_173487,NM_001099783 C4orf33,C4orf33 EXON Missense_X200W,Missense_X200W rs337270 4 130042232 [A/C] rs12500557 4 130051748 [A/G] rs234264 4 130056276 [T/C] rs4616770 4 130072652 [T/C] rs13123966 4 130074947 [A/G] rs11726808 4 130089052 [T/C] rs11735242 4 130089540 [A/G] exm2269842 4 130092214 [T/C] rs10518545 4 130114848 [A/G] rs10857138 4 130121328 [A/G] rs7659741 4 130123251 [A/G] rs488685 4 130130312 [A/G] rs512552 4 130130625 [A/C] rs477926 4 130133372 [T/C] rs908103 4 130136648 [T/C] rs971446 4 130155315 [T/C] rs7682166 4 130158317 [T/C] rs1514572 4 130160706 [A/C] rs17014505 4 130163564 [T/C] rs17367253 4 130167235 [T/C] rs6824516 4 130171981 [T/C] rs6829641 4 130178102 [T/C] rs6534714 4 130184243 [T/C] rs9994767 4 130185974 [T/C] rs9917851 4 130192103 [A/G] rs4604070 4 130196647 [A/G] rs4484315 4 130200129 [T/C] rs4426799 4 130216263 [A/G] rs6849054 4 130221251 [T/G] rs4355401 4 130230383 [A/C] rs6856123 4 130236239 [T/C] rs6813691 4 130245888 [T/C] rs9994470 4 130247519 [T/G] rs10031400 4 130264384 [T/G] rs4975217 4 130267046 [T/G] rs4975218 4 130267085 [A/G] rs17014612 4 130267509 [T/C] rs10014575 4 130308015 [T/G] rs11933154 4 130310751 [A/G] rs6845051 4 130317282 [T/G] rs1030696 4 130318128 [A/G] rs10001834 4 130325201 [T/G] rs995638 4 130364131 [A/G] rs995637 4 130364383 [A/G] rs1433384 4 130375150 [T/C] rs1865176 4 130375622 [T/C] rs621740 4 130378616 [T/C] rs623865 4 130384715 [T/C] rs7666727 4 130390365 [A/G] rs17050480 4 130412286 [T/C] rs650483 4 130417557 [T/C] rs600121 4 130421169 [A/G] rs685845 4 130450256 [A/G] rs666306 4 130453157 [A/G] rs1074762 4 130464486 [T/C] rs2117060 4 130469043 [A/G] rs17372420 4 130469784 [T/G] rs10857140 4 130474564 [A/G] rs1517066 4 130476563 [T/C] rs628527 4 130523279 [A/G] rs10518552 4 130536283 [T/C] rs17439675 4 130543768 [T/C] rs10001198 4 130547353 [A/G] rs10017568 4 130552827 [A/G] rs7674283 4 130562576 [A/G] rs17050583 4 130568677 [T/G] rs1907454 4 130580317 [A/G] rs4864109 4 130606797 [A/G] rs2728760 4 130619114 [A/G] rs2637613 4 130626785 [A/G] rs2728748 4 130650949 [T/C] rs10020857 4 130655673 [T/C] rs11726911 4 130661821 [A/C] rs6827640 4 130667787 [A/G] rs961410 4 130678673 [T/C] rs4417988 4 130684221 [T/G] exm2265758 4 130691794 [A/G] rs4317218 4 130696787 [T/C] rs17690833 4 130707281 [T/C] rs11099019 4 130710218 [A/G] rs11099020 4 130724902 [T/C] rs4864201 4 130731284 [T/C] rs2955478 4 130738875 [A/G] rs6836368 4 130751286 [A/G] exm2261607 4 130751286 [A/G] rs2391535 4 130756174 [T/C] rs12233773 4 130756415 [T/C] rs11931514 4 130758675 [A/G] rs10022903 4 130765713 [T/C] rs10028795 4 130767230 [A/G] rs2968999 4 130784545 [A/G] rs3111741 4 130824678 [A/G] rs2968959 4 130827136 [T/G] rs2968955 4 130857829 [A/G] rs10025344 4 130866817 [A/G] rs17050760 4 130869806 [A/G] rs10013838 4 130882146 [T/G] rs1995720 4 130887651 [A/G] rs2968933 4 130908815 [T/C] rs2391577 4 130912560 [T/G] rs1567192 4 130928325 [T/C] rs7661528 4 130949366 [A/G] rs7665451 4 130962301 [T/C] rs6534761 4 130965930 [A/G] rs1022009 4 130966165 [T/C] rs6534762 4 130978989 [A/G] rs4864311 4 130980955 [T/C] rs6844491 4 130983055 [A/G] rs10017257 4 130985136 [T/C] rs13134698 4 130997758 [T/G] rs11933661 4 131013140 [T/C] rs1507787 4 131016112 [T/C] rs2391598 4 131018271 [T/C] rs11099035 4 131021262 [A/G] rs2391603 4 131061059 [A/C] rs1493226 4 131062875 [A/C] rs1845224 4 131071699 [T/C] rs6826948 4 131093532 [A/G] rs6827503 4 131093554 [A/G] rs1979689 4 131107527 [A/G] rs2893315 4 131108390 [T/C] rs10034121 4 131109983 [T/G] rs1120962 4 131116943 [A/G] rs6819699 4 131125809 [T/C] rs1908039 4 131127633 [T/C] rs11099040 4 131131416 [T/C] rs13113376 4 131132900 [T/C] exm-rs1024020 4 131137761 [T/C] exm2269969 4 131167056 [T/C] rs7437554 4 131169265 [A/G] rs6833836 4 131175071 [A/G] rs4383635 4 131194571 [A/G] rs11944858 4 131198147 [T/C] rs10024383 4 131207582 [A/G] rs1022079 4 131238094 [A/C] rs9307625 4 131242827 [A/G] rs7662168 4 131250760 [A/G] rs4146036 4 131250944 [T/C] rs6815723 4 131253096 [T/C] exm2269843 4 131254621 [T/C] rs13143102 4 131264117 [A/G] rs6534789 4 131304008 [A/G] rs11099051 4 131311267 [T/G] rs12331990 4 131314946 [A/C] rs4863988 4 131322432 [A/C] rs1355187 4 131342779 [A/G] rs10020348 4 131390997 [A/G] rs10001417 4 131392651 [A/G] rs6853908 4 131415182 [T/G] rs2871891 4 131431602 [T/G] rs6817368 4 131438739 [T/C] rs12502992 4 131451365 [A/G] rs2969152 4 131456285 [A/C] rs13105686 4 131468686 [T/C] rs4864001 4 131473531 [A/C] rs11099064 4 131484721 [A/C] rs2169718 4 131499709 [T/C] rs4273485 4 131503899 [T/G] rs4479720 4 131518894 [A/G] rs899131 4 131524184 [T/C] rs2125639 4 131532350 [A/G] rs2871751 4 131539495 [A/G] rs7668962 4 131540018 [A/G] rs7659897 4 131551052 [T/G] rs1948210 4 131558064 [T/C] rs2054931 4 131561136 [T/C] rs1304183 4 131569148 [A/G] rs1387452 4 131589008 [T/C] rs1032272 4 131589420 [A/G] rs1994541 4 131594623 [T/C] rs10006622 4 131596752 [T/C] rs1489435 4 131599780 [A/G] rs1844327 4 131606179 [A/C] rs7674705 4 131611683 [T/C] rs2311780 4 131629960 [A/G] rs306344 4 131641387 [T/C] rs306364 4 131652041 [T/C] rs306353 4 131662183 [A/G] rs990046 4 131662676 [A/G] rs3113500 4 131695431 [A/G] rs3103398 4 131695570 [T/G] rs424918 4 131696764 [A/C] rs306377 4 131700214 [A/C] exm2269844 4 131711532 [T/C] rs11099082 4 131724116 [T/G] rs1478075 4 131727847 [A/G] rs6854661 4 131750641 [A/C] rs7440566 4 131779157 [T/C] rs717469 4 131783960 [A/G] rs2035213 4 131787782 [A/C] exm-rs1478091 4 131790501 [T/C] rs6850860 4 131792029 [T/C] rs1478095 4 131804232 [A/G] rs12711163 4 131809519 [T/C] rs6847750 4 131814499 [T/C] rs17051105 4 131817577 [T/C] rs1382177 4 131824376 [A/G] rs7658306 4 131857035 [A/G] rs12498616 4 131866685 [A/G] rs2055392 4 131868112 [A/C] rs12508862 4 131880992 [A/C] rs6830509 4 131884313 [A/C] rs2312546 4 131886381 [T/C] rs1948720 4 131897140 [A/G] rs9996563 4 131938086 [T/C] rs12642294 4 131939529 [A/G] rs10006329 4 131941333 [T/C] rs3104157 4 131965131 [A/G] rs3104162 4 131973513 [A/G] rs1466742 4 131975827 [A/G] rs2220898 4 131983567 [A/G] rs440783 4 131985143 [T/C] rs7692456 4 132008409 [A/C] rs10031771 4 132051076 [T/C] rs12651384 4 132057086 [T/C] rs7690099 4 132080596 [T/C] rs6843806 4 132125400 [T/C] rs500131 4 132125839 [A/G] rs10018513 4 132126271 [A/G] rs490321 4 132129741 [A/G] rs9999452 4 132134734 [A/G] rs6811871 4 132143726 [T/C] rs6855567 4 132169789 [T/C] rs17051169 4 132177937 [T/C] rs9992696 4 132192738 [A/C] rs10008591 4 132218117 [T/C] rs10000209 4 132240434 [T/C] rs4133013 4 132242896 [T/C] rs1472909 4 132250203 [A/G] exm2269970 4 132262931 [T/C] rs4585325 4 132282009 [T/C] rs1911877 4 132298239 [T/C] rs4864039 4 132305574 [A/G] rs6811541 4 132328214 [A/G] rs17051193 4 132347889 [T/G] rs17457419 4 132351485 [A/G] rs7690600 4 132351655 [T/C] rs9993647 4 132354287 [T/G] rs7441235 4 132360407 [T/C] rs971005 4 132392727 [A/G] rs1280687 4 132399049 [A/C] rs1280699 4 132408562 [A/G] rs17458198 4 132413729 [T/C] rs1911889 4 132435333 [A/G] rs7653972 4 132443909 [T/C] exm2256349 4 132452741 [T/G] rs2036891 4 132455666 [A/C] rs1548157 4 132457822 [A/G] rs11099104 4 132460604 [T/G] rs11737708 4 132479903 [A/G] rs350959 4 132485551 [T/G] rs350995 4 132489231 [A/G] rs9997012 4 132496237 [T/G] rs13118882 4 132500347 [T/G] rs350951 4 132535129 [A/G] rs10003774 4 132551302 [T/C] rs1500780 4 132565470 [T/G] rs11931589 4 132575313 [A/C] rs1909854 4 132595111 [A/G] rs350694 4 132610422 [A/G] rs1909852 4 132612328 [T/C] kgp4835133 4 132686665 [A/C] rs13122986 4 132689843 [A/C] kgp10430199 4 132739336 [A/G] kgp4274745 4 132748251 [A/G] rs2863673 4 132773067 [T/C] kgp2468967 4 132790414 [T/C] kgp1082691 4 132794301 [T/C] kgp12241657 4 132849871 [A/G] kgp10629795 4 132868372 [A/G] rs349293 4 132902055 [T/C] rs1367832 4 132914907 [A/C] rs4863859 4 132932856 [A/G] rs6848554 4 132961872 [T/G] rs1431686 4 132980813 [T/C] rs11726701 4 132988240 [T/C] rs4864099 4 133005854 [T/C] rs13108543 4 133016451 [A/G] exm2269846 4 133038675 [T/C] rs9996530 4 133047300 [A/G] rs10461213 4 133062685 [T/C] rs10028352 4 133071142 [T/C] rs9992794 4 133082999 [T/C] rs6534877 4 133093090 [T/G] rs10021585 4 133118600 [T/C] rs348071 4 133134553 [T/C] rs1603924 4 133156160 [T/C] rs6811696 4 133157721 [T/C] rs1499328 4 133165898 [T/C] rs904516 4 133196593 [A/C] rs13103069 4 133223152 [A/G] rs6835951 4 133231183 [T/G] rs13121719 4 133236522 [A/G] rs17559165 4 133254836 [T/G] rs10006396 4 133284503 [T/C] rs2088629 4 133287048 [T/C] rs17050168 4 133331707 [A/G] rs1499348 4 133353530 [A/G] rs1909456 4 133397984 [T/C] rs6812055 4 133407553 [A/G] rs6812131 4 133407753 [T/C] rs11935217 4 133463042 [T/C] rs1499346 4 133478128 [T/C] rs6856692 4 133479165 [T/G] rs6814930 4 133480032 [A/G] exm2264101 4 133504375 [A/C] rs726332 4 133508013 [T/C] rs11732021 4 133519291 [A/G] rs4863879 4 133527232 [T/C] rs4864123 4 133529212 [T/C] exm2269847 4 133529403 [T/C] rs1946687 4 133534583 [A/C] rs12510292 4 133535054 [T/G] rs17563797 4 133537182 [T/C] rs10033014 4 133541137 [T/C] rs11944559 4 133560170 [T/G] rs13142383 4 133561788 [T/C] rs1435313 4 133562149 [T/C] rs1583451 4 133577811 [T/C] rs4864132 4 133585003 [T/G] rs11099203 4 133597653 [A/G] rs10518617 4 133621825 [A/G] rs13143170 4 133622871 [A/G] rs13117639 4 133637568 [T/C] rs7691446 4 133652752 [T/C] rs12645565 4 133671899 [A/G] rs13119882 4 133685637 [A/G] rs11943009 4 133689782 [T/C] rs11930973 4 133694117 [T/C] rs13132952 4 133694135 [A/G] rs7665789 4 133703268 [T/C] rs12641171 4 133707298 [A/G] rs9996230 4 133714445 [T/C] rs13137695 4 133740742 [T/C] rs1037177 4 133752631 [T/C] rs10518621 4 133764742 [T/C] rs17509240 4 133774665 [T/C] rs12501689 4 133786573 [A/G] rs1349050 4 133821810 [T/C] rs978335 4 133833738 [T/C] rs1448019 4 133839342 [T/C] rs7683176 4 133842910 [T/C] rs1448029 4 133856236 [T/C] rs11099230 4 133858930 [A/G] rs1448009 4 133876492 [T/C] rs17017843 4 133877679 [T/C] rs17017992 4 133887995 [A/G] rs7691971 4 133892106 [A/G] rs10518624 4 133906801 [T/C] rs7675150 4 133955962 [T/C] rs10026639 4 133961722 [T/C] rs6840712 4 133987761 [T/C] rs17585807 4 134030542 [A/G] rs12650564 4 134038614 [T/C] rs4404561 4 134046930 [A/C] exm2269848 4 134063018 [T/G] exm2065963 4 134071300 [T/C] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_I2T,Missense_I2T indel.82841 4 134071416 [D/I] NM_020815,NM_032961 PCDH10,PCDH10 EXON exm2065965 4 134071430 [T/G] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_I45M,Missense_I45M exm2256353 4 134071871 [A/G] NM_020815,NM_032961 PCDH10,PCDH10 EXON Synonymous_E192E,Synonymous_E192E exm424772 4 134072578 [T/C] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_S428F,Missense_S428F exm2256354 4 134072642 [T/C] NM_020815,NM_032961 PCDH10,PCDH10 EXON Synonymous_I449I,Synonymous_I449I exm424782 4 134072764 [T/G] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_R490L,Missense_R490L exm424786 4 134072893 [A/G] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_Y533C,Missense_Y533C exm424794 4 134073301 [T/C] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_S669F,Missense_S669F exm424802 4 134073527 [T/G] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_K744N,Missense_K744N exm424807 4 134073706 [T/C] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_I804T,Missense_I804T exm424809 4 134073746 [T/G] NM_020815,NM_032961 PCDH10,PCDH10 EXON Missense_Q817H,Missense_Q817H rs3749589 4 134074058 [A/G] NM_020815,NM_032961 PCDH10,PCDH10 EXON Silent,Silent rs1396009 4 134081686 [A/G] NM_032961 PCDH10 Silent rs9307688 4 134083486 [T/C] NM_032961 PCDH10 Silent exm424826 4 134084225 [T/G] NM_032961 PCDH10 EXON Missense_R964L rs10518630 4 134091734 [A/G] NM_032961 PCDH10 Silent rs6846610 4 134120109 [T/C] rs7663268 4 134123827 [T/C] rs13122589 4 134127276 [A/C] rs7676691 4 134139650 [T/C] rs976259 4 134153787 [T/C] exm2269971 4 134169341 [T/C] rs10213462 4 134201076 [A/G] rs10213461 4 134201194 [T/C] rs7677931 4 134203735 [A/G] rs7684286 4 134223023 [T/C] rs6843762 4 134246761 [T/G] rs1895778 4 134266978 [T/C] rs13101921 4 134274037 [T/G] rs6818278 4 134291887 [T/C] rs2009274 4 134319928 [A/C] rs1389331 4 134335871 [T/C] rs13127497 4 134346117 [T/C] rs13149700 4 134379548 [A/C] rs7375925 4 134384370 [A/G] exm2265759 4 134384370 [A/G] rs17024794 4 134384791 [T/C] rs11732664 4 134396454 [T/C] rs7696123 4 134415283 [A/G] rs4593189 4 134439150 [T/C] rs6836197 4 134458405 [T/C] rs1493517 4 134471862 [T/C] rs1565733 4 134478128 [T/C] rs903094 4 134482324 [A/G] rs13106321 4 134489656 [T/C] rs12508742 4 134514218 [T/G] rs925084 4 134530386 [T/G] rs2713289 4 134540393 [T/C] rs1948964 4 134572146 [T/G] rs1567176 4 134578828 [T/G] rs1395763 4 134603887 [A/G] rs2724267 4 134626218 [T/C] rs10518642 4 134640333 [T/C] rs17537322 4 134641442 [T/C] rs7683051 4 134642025 [T/C] rs12646011 4 134702716 [T/G] rs7668810 4 134710417 [T/C] rs4613620 4 134714897 [T/C] rs4505885 4 134733250 [A/G] rs12499235 4 134775136 [T/C] rs4629515 4 134777686 [T/G] rs7699345 4 134780470 [T/C] rs6811342 4 134784379 [A/G] rs17611459 4 134788400 [T/C] exm2265871 4 134795710 [A/G] rs4415013 4 134815036 [A/G] rs17540695 4 134847697 [A/G] exm2265760 4 134860496 [A/G] rs7340759 4 134865463 [A/C] rs6840096 4 134869724 [A/G] rs11731250 4 134888185 [A/G] rs12508354 4 134889067 [T/G] rs7664989 4 134919765 [A/C] rs17542016 4 134952210 [A/G] rs6839208 4 134964598 [A/G] rs12642075 4 134972554 [A/G] rs6534996 4 134997723 [T/C] rs1390022 4 135019322 [T/C] rs1494989 4 135019690 [A/G] rs1390021 4 135020910 [A/G] rs1494984 4 135046236 [T/C] rs11099273 4 135121066 [T/G] NM_001114734 PABPC4L EXON Missense_H428P exm424843 4 135121183 [T/C] NM_001114734 PABPC4L EXON Missense_S389N exm2240442 4 135121425 [G/C] NM_001114734 PABPC4L EXON Missense_M308I exm424850 4 135121601 [T/C] NM_001114734 PABPC4L EXON Missense_V250I exm424851 4 135121721 [T/C] NM_001114734 PABPC4L EXON Missense_R210G exm424852 4 135121729 [A/G] NM_001114734 PABPC4L EXON Missense_A207V exm2274048 4 135122036 [T/G] NM_001114734 PABPC4L EXON Missense_T105P rs4337777 4 135137960 [T/C] rs2901383 4 135149801 [T/C] rs6822094 4 135176705 [T/C] rs11935714 4 135211409 [T/C] kgp11194299 4 135212853 [T/C] rs7664791 4 135220344 [A/G] rs6856274 4 135278673 [A/G] rs1601648 4 135294098 [T/C] rs1486994 4 135297475 [T/C] rs12644853 4 135312908 [T/G] rs1486978 4 135339629 [T/G] rs17037260 4 135345377 [T/C] rs11729282 4 135358154 [T/C] rs977851 4 135399300 [T/G] rs13129759 4 135420199 [T/C] rs4388143 4 135428455 [A/C] rs13140370 4 135430486 [T/C] rs11099284 4 135438724 [T/C] rs6844188 4 135454396 [A/G] rs11934048 4 135474690 [A/G] rs4479759 4 135514757 [A/G] exm-rs10026364 4 135522740 [T/C] rs10010236 4 135547294 [A/G] rs6827297 4 135554935 [T/G] rs7672011 4 135623942 [A/C] rs6535038 4 135643583 [A/G] rs10519337 4 135655677 [A/G] rs11938483 4 135678228 [A/C] rs644708 4 135687493 [T/C] rs13144694 4 135735591 [A/G] rs10155476 4 135735630 [A/G] exm2265762 4 135741792 [A/G] rs7667372 4 135741863 [A/C] rs13119012 4 135772152 [T/C] rs12505192 4 135778261 [A/G] rs7684927 4 135779831 [T/C] rs6853230 4 135793327 [T/G] rs10034996 4 135796837 [A/G] rs6856596 4 135798890 [A/G] rs6813668 4 135803220 [T/C] rs11722290 4 135832268 [T/C] rs9998198 4 135838960 [A/G] rs4290941 4 135860798 [A/G] exm2269972 4 135864154 [T/C] rs11938033 4 135864154 [T/C] rs7692242 4 135886041 [A/G] rs13102973 4 135900688 [T/C] rs13140134 4 135912595 [T/C] rs4343778 4 135916528 [A/C] rs4361440 4 135918927 [T/C] rs12509818 4 135928708 [T/C] rs4527530 4 135939520 [T/C] rs6535065 4 135953351 [T/C] rs4292380 4 135954865 [A/G] rs4530692 4 135966148 [A/G] rs28703919 4 135966954 [T/C] rs12509986 4 135974322 [T/C] rs11730178 4 135976246 [T/C] rs7664664 4 135989375 [A/G] rs7687865 4 136008847 [A/G] rs11099317 4 136020662 [A/G] rs4128296 4 136024521 [T/C] rs9997836 4 136034687 [T/G] rs10034725 4 136037190 [A/G] rs4330400 4 136037410 [A/G] rs4452495 4 136042022 [A/C] rs6815438 4 136046765 [A/C] rs11099320 4 136068696 [T/C] rs2404639 4 136074901 [T/C] rs11099322 4 136078993 [A/G] rs10031835 4 136087584 [T/C] rs10009456 4 136094675 [T/G] rs1841409 4 136125132 [T/C] rs17637542 4 136126570 [A/G] rs11099332 4 136147584 [A/G] rs2219587 4 136151551 [T/C] rs17639159 4 136192112 [T/C] rs1460689 4 136199802 [T/G] rs6844518 4 136242130 [T/C] exm2264066 4 136244789 [A/C] rs13147783 4 136258488 [T/C] rs1380900 4 136263707 [A/C] rs4864269 4 136302270 [A/G] rs13135756 4 136339396 [T/C] rs13112126 4 136374928 [A/C] rs17579742 4 136381862 [T/C] rs984160 4 136406835 [A/G] rs10014428 4 136421815 [T/G] rs13110301 4 136422205 [T/C] rs1479776 4 136453566 [T/C] rs7340923 4 136482197 [T/C] rs17648258 4 136490362 [A/C] rs931121 4 136491544 [A/G] rs2101018 4 136494967 [A/C] rs4146972 4 136503631 [T/C] rs1038151 4 136512755 [T/G] rs7692855 4 136516456 [T/C] rs7685332 4 136543136 [T/C] rs7666345 4 136549624 [T/C] rs17649956 4 136561308 [T/C] rs958632 4 136572585 [A/G] rs1504865 4 136591498 [A/C] rs1566874 4 136606270 [A/G] rs11734150 4 136613685 [A/G] rs963645 4 136649383 [A/C] rs6811227 4 136651244 [T/C] rs10006644 4 136653344 [T/G] rs13111781 4 136653594 [T/C] rs7655183 4 136660767 [A/G] rs1604945 4 136688436 [A/G] rs2018601 4 136694463 [T/C] exm2269849 4 136694463 [T/C] rs6816688 4 136696628 [A/G] rs6535115 4 136711280 [T/C] rs10028711 4 136716868 [T/C] rs7657021 4 136727025 [T/C] rs4311361 4 136728487 [A/G] rs2068179 4 136741799 [A/G] rs13139177 4 136750399 [A/G] rs6853180 4 136754442 [A/G] rs6535122 4 136760894 [A/G] exm2269973 4 136762639 [T/G] rs7672503 4 136763493 [A/G] rs12645397 4 136764416 [A/C] rs4610390 4 136778939 [T/C] rs11722042 4 136828780 [T/C] rs12509309 4 136866722 [A/G] rs4318703 4 136910271 [A/G] rs4455480 4 136910907 [A/G] rs11733579 4 136919049 [T/C] rs4580703 4 136940740 [T/G] rs2405494 4 136955744 [T/C] rs6535135 4 136958364 [T/G] rs4863947 4 136978022 [A/C] rs10519374 4 136993300 [T/C] rs4145876 4 137003101 [T/C] rs10013192 4 137023288 [A/G] rs1451109 4 137071335 [A/G] rs2897153 4 137105336 [A/G] rs2034535 4 137116996 [T/C] rs10009269 4 137136262 [T/C] rs12506698 4 137138361 [T/C] kgp3416216 4 137138570 [T/C] kgp20895157 4 137142468 [A/G] exm2265872 4 137196244 [A/G] rs1451111 4 137196244 [A/G] rs1597600 4 137206602 [T/C] rs11099379 4 137223663 [T/C] rs2110186 4 137233717 [A/G] rs10026312 4 137247266 [T/C] rs6858670 4 137258380 [T/C] rs13102201 4 137259372 [A/C] rs10013817 4 137259828 [A/G] rs11099384 4 137267384 [A/G] rs2215748 4 137289228 [A/C] rs4864340 4 137323344 [A/G] rs7682599 4 137324597 [T/C] rs10489022 4 137332146 [A/G] rs13146292 4 137336902 [T/G] rs11732083 4 137349221 [A/C] rs2016184 4 137358857 [A/C] rs6848260 4 137364012 [T/C] rs1476909 4 137364820 [A/G] rs2215746 4 137376628 [T/G] rs6854954 4 137397046 [A/G] exm2269850 4 137408872 [T/C] rs6535149 4 137408872 [T/C] rs10028445 4 137413277 [T/C] rs12503505 4 137445190 [A/G] rs4315856 4 137454023 [A/G] rs9685146 4 137474142 [T/G] rs11733040 4 137480493 [A/G] rs10519392 4 137485929 [A/G] rs1343837 4 137493086 [A/G] rs1317842 4 137493839 [A/G] rs6824877 4 137500020 [T/C] rs4304024 4 137524479 [A/C] rs10012428 4 137526751 [T/G] rs12509396 4 137534902 [T/C] rs4864355 4 137535918 [A/G] exm2269851 4 137539440 [T/C] rs2405826 4 137542931 [A/G] rs13125562 4 137551442 [A/G] rs2406055 4 137567044 [T/C] rs6812959 4 137581282 [A/G] rs11728206 4 137589137 [T/C] rs2406041 4 137590858 [A/G] rs2406040 4 137590890 [T/C] rs2406037 4 137591468 [T/C] rs12512934 4 137593405 [T/C] rs7658823 4 137599574 [A/C] rs17048874 4 137614143 [A/C] rs2125883 4 137626639 [T/C] rs2612181 4 137632211 [T/C] rs7658630 4 137634247 [A/G] rs9996792 4 137650213 [A/G] rs17617045 4 137657271 [T/C] exm-rs6813479 4 137660383 [T/A] rs7692053 4 137662604 [A/G] rs736339 4 137671615 [T/C] rs17673757 4 137673414 [A/G] rs1460138 4 137676856 [A/C] rs10519397 4 137682275 [A/C] rs2634904 4 137689373 [A/G] rs17048962 4 137690122 [T/C] rs11733819 4 137694429 [T/C] rs1841293 4 137704034 [T/G] rs17619001 4 137713519 [T/C] rs9990891 4 137713685 [A/G] rs17829074 4 137720486 [T/C] rs2169147 4 137727533 [T/C] rs4241970 4 137729375 [T/C] rs898427 4 137740596 [T/C] rs7658921 4 137745250 [A/C] rs9884859 4 137746765 [T/C] rs2634862 4 137757203 [T/C] rs2612131 4 137757692 [T/C] rs2612165 4 137761486 [T/C] rs6842060 4 137775757 [T/C] rs7698161 4 137808928 [T/C] rs7685312 4 137814303 [A/G] rs994912 4 137834967 [T/G] rs1373895 4 137851858 [T/C] rs693365 4 137852484 [A/G] rs1400918 4 137874783 [T/C] rs10519404 4 137875449 [T/C] rs7695609 4 137886834 [A/G] rs1517955 4 137912755 [T/C] rs1996452 4 137914565 [A/G] rs1517945 4 137938336 [T/C] rs515800 4 137953807 [T/C] rs534612 4 137954283 [A/G] rs545844 4 137964269 [T/C] rs7661485 4 137976550 [A/G] rs11735377 4 137984231 [A/G] rs7692042 4 137986252 [T/C] rs12511969 4 137990451 [A/G] rs720733 4 137997347 [T/C] rs12510407 4 137997845 [T/C] rs12647735 4 137999526 [A/C] rs1456266 4 138002681 [T/G] rs10519416 4 138010057 [T/C] rs1542389 4 138016196 [T/C] rs1118368 4 138038058 [T/C] rs10519415 4 138044886 [T/G] rs12505431 4 138049464 [A/G] rs17049362 4 138052684 [T/G] rs11944907 4 138054384 [A/G] rs989519 4 138080761 [A/C] rs10010440 4 138087831 [T/G] rs7660328 4 138111659 [A/G] rs9307765 4 138115250 [A/G] rs10519412 4 138129929 [T/C] rs7696692 4 138145125 [T/C] rs2406716 4 138160754 [T/C] rs4561979 4 138161364 [T/C] rs1425979 4 138164950 [T/G] rs1425982 4 138168552 [T/C] rs1425983 4 138168682 [A/C] rs6816675 4 138171595 [A/G] rs10012193 4 138197514 [A/C] rs12505076 4 138206940 [A/C] rs7670687 4 138213225 [A/G] rs6847311 4 138221687 [A/G] rs1425969 4 138224531 [T/C] rs987360 4 138227609 [T/C] rs768728 4 138227898 [T/G] rs13129710 4 138229547 [T/C] exm2264067 4 138232010 [A/C] rs1365133 4 138238306 [T/G] rs10857203 4 138247146 [A/G] rs1425993 4 138247502 [T/G] rs1991260 4 138279041 [A/G] rs7692730 4 138287439 [A/C] rs11730485 4 138293584 [A/C] rs6831492 4 138299994 [T/C] rs11929773 4 138301340 [T/G] rs10519420 4 138313173 [T/C] rs5020420 4 138333658 [T/C] rs7699794 4 138346339 [A/G] rs6831421 4 138349799 [A/G] rs11936879 4 138352416 [T/C] rs7698992 4 138367052 [T/C] rs2406747 4 138367353 [T/C] rs7660985 4 138372112 [T/C] rs4864420 4 138374116 [T/G] rs7679076 4 138380321 [A/C] rs12500066 4 138382556 [T/C] rs2406613 4 138395132 [A/G] rs12643295 4 138395782 [A/C] rs10032588 4 138397770 [A/G] rs13112145 4 138413244 [T/C] rs9685021 4 138415363 [T/C] exm2261617 4 138433162 [A/G] rs34680700 4 138433801 [T/C] exm424867 4 138442265 [T/C] NM_019035 PCDH18 EXON Missense_N1109S exm424869 4 138442359 [A/T] NM_019035 PCDH18 EXON Missense_S1078C exm424871 4 138442377 [A/G] NM_019035 PCDH18 EXON Missense_P1072S exm424880 4 138442527 [T/C] NM_019035 PCDH18 EXON Missense_T1022A exm424882 4 138442550 [T/C] NM_019035 PCDH18 EXON Missense_R1014H exm424886 4 138442615 [T/G] NM_019035 PCDH18 EXON Missense_N992K variant.82845 4 138442737 [A/C] NM_019035 PCDH18 EXON Nonsense_E952X exm424911 4 138450892 [A/G] NM_019035 PCDH18 EXON Missense_T784I exm424926 4 138451090 [A/G] NM_019035 PCDH18 EXON Missense_V718A exm424933 4 138451218 [C/G] NM_019035 PCDH18 EXON Missense_M675I exm424934 4 138451222 [T/C] NM_019035 PCDH18 EXON Missense_C674Y exm424938 4 138451292 [T/C] NM_019035 PCDH18 EXON Missense_E651K exm424941 4 138451397 [A/G] NM_019035 PCDH18 EXON Missense_L616F exm424944 4 138451498 [T/C] NM_019035 PCDH18 EXON Missense_R582H exm424945 4 138451499 [A/G] NM_019035 PCDH18 EXON Missense_R582C exm2066168 4 138451723 [T/C] NM_019035 PCDH18 EXON Missense_S507N exm424983 4 138452808 [A/C] NM_019035 PCDH18 EXON Missense_E145D exm424984 4 138452842 [A/G] NM_019035 PCDH18 EXON Missense_S134F exm424995 4 138453216 [T/G] NM_019035 PCDH18 EXON Missense_H9Q rs6605362 4 138469564 [T/C] rs10028163 4 138470185 [A/G] rs6824771 4 138477450 [T/C] rs10023753 4 138496793 [A/G] rs4478233 4 138498854 [T/G] rs6842329 4 138506420 [T/G] rs4554127 4 138511495 [T/C] rs4391086 4 138520936 [T/C] rs4346697 4 138528410 [T/C] rs12645301 4 138534164 [A/C] rs10021969 4 138535434 [T/G] rs1110119 4 138563488 [A/C] rs7666878 4 138571663 [A/C] rs17049735 4 138576003 [T/C] rs1976929 4 138577151 [A/G] rs6839772 4 138578594 [A/G] rs2462870 4 138597155 [A/C] rs1596795 4 138604190 [A/C] rs3843891 4 138609462 [A/C] exm2264068 4 138609462 [A/C] rs11946875 4 138616339 [A/G] rs1880774 4 138664579 [A/G] rs11941963 4 138666945 [T/C] rs12374402 4 138678024 [T/C] rs9308023 4 138688076 [T/C] exm-rs2313132 4 138692250 [A/G] rs2089615 4 138701890 [A/G] rs2175072 4 138702796 [T/C] rs1509268 4 138712304 [A/C] rs13132156 4 138739406 [A/G] rs6823023 4 138764286 [T/C] rs11930640 4 138783682 [T/C] rs7679412 4 138794021 [T/C] rs11935362 4 138797567 [A/G] rs17294252 4 138801097 [A/C] rs12511738 4 138801711 [A/G] rs12503655 4 138803834 [A/G] rs1605819 4 138804645 [A/C] rs13128867 4 138840995 [T/C] rs4640713 4 138853076 [T/G] rs1589210 4 138862113 [T/G] rs6851757 4 138873552 [T/C] rs10023662 4 138876378 [T/C] rs7667668 4 138877026 [T/C] rs2139320 4 138895657 [A/G] rs6825001 4 138902871 [A/G] rs4863533 4 138913554 [A/G] rs1807894 4 138956770 [A/C] NR_037866 LINC00616 Silent rs9284677 4 138976805 [A/G] NR_037866 LINC00616 Silent rs1439502 4 138977173 [T/C] NR_037866 LINC00616 Silent rs11734678 4 139005538 [T/G] NR_037866 LINC00616 Silent rs1982203 4 139019356 [T/C] NR_037866,NR_038380 LINC00616,SLC7A11-AS1 EXON Silent,Silent rs1344976 4 139064115 [A/G] NR_038380 SLC7A11-AS1 Silent exm425000 4 139093119 [A/T] NR_038380,NM_014331 SLC7A11-AS1,SLC7A11 EXON Silent,Missense_D499E exm425001 4 139093139 [T/C] NR_038380,NM_014331 SLC7A11-AS1,SLC7A11 EXON Silent,Missense_E493K exm425002 4 139100372 [T/C] NM_014331 SLC7A11 Silent exm425007 4 139100509 [A/G] NM_014331 SLC7A11 EXON Missense_L436F exm425011 4 139101829 [T/C] NM_014331 SLC7A11 EXON Missense_R411Q exm425015 4 139101928 [A/G] NM_014331 SLC7A11 EXON Missense_I378T exm425022 4 139104414 [T/C] NM_014331 SLC7A11 EXON Missense_I321V exm425024 4 139104429 [A/G] NM_014331 SLC7A11 EXON Missense_S316P exm425028 4 139106315 [A/G] NM_014331 SLC7A11 EXON Missense_I292T rs6852562 4 139112622 [A/G] NM_014331 SLC7A11 Silent rs4863772 4 139120683 [T/C] NM_014331 SLC7A11 Silent rs4131888 4 139123748 [T/C] NM_014331 SLC7A11 Silent rs4602539 4 139125041 [T/G] NM_014331 SLC7A11 Silent exm425046 4 139144395 [T/C] NM_014331 SLC7A11 EXON Missense_I202V rs7666936 4 139150283 [T/C] NM_014331 SLC7A11 Silent exm425052 4 139153499 [A/G] NM_014331 SLC7A11 EXON Missense_R148C exm425054 4 139153535 [A/G] NM_014331 SLC7A11 EXON Missense_P136S variant.82848 4 139157479 [T/C] NM_014331 SLC7A11 EXON Missense_R135H variant.82849 4 139157507 [A/G] NM_014331 SLC7A11 EXON Nonsense_R126X var_4_139163079 4 139163079 [A/C] NM_014331 SLC7A11 EXON Nonsense_G49X variant.82851 4 139163109 [A/G] NM_014331 SLC7A11 EXON Nonsense_Q39X exm425064 4 139163117 [T/C] NM_014331 SLC7A11 EXON Missense_E36G exm425065 4 139163150 [A/G] NM_014331 SLC7A11 EXON Missense_P25L rs11737641 4 139178894 [T/C] rs17300990 4 139183123 [A/G] rs1513765 4 139193151 [T/G] rs6817763 4 139209701 [T/G] rs13119725 4 139211038 [T/G] rs6537323 4 139223367 [T/C] rs6810458 4 139238565 [T/G] NR_051987 LINC00499 Silent rs7670671 4 139243656 [T/C] NR_051987 LINC00499 Silent rs7669522 4 139253392 [T/C] NR_051987 LINC00499 Silent rs13110033 4 139256359 [A/C] NR_051987 LINC00499 Silent rs7682572 4 139258276 [T/C] NR_051987 LINC00499 Silent rs3096659 4 139260411 [A/G] NR_051987 LINC00499 Silent rs298472 4 139267650 [T/C] NR_051987 LINC00499 Silent rs12509850 4 139271008 [A/G] NR_051987 LINC00499 Silent rs7657271 4 139271665 [A/C] NR_051987 LINC00499 Silent exm2269852 4 139274999 [T/C] NR_051987 LINC00499 Silent rs448469 4 139274999 [T/C] NR_051987 LINC00499 Silent rs417342 4 139282314 [A/G] NR_051987 LINC00499 Silent rs426029 4 139285764 [A/G] NR_051987 LINC00499 Silent rs12505439 4 139301744 [A/G] NR_051987 LINC00499 Silent rs298462 4 139302720 [A/G] NR_051987 LINC00499 Silent rs6842871 4 139304119 [A/C] NR_051987 LINC00499 Silent rs1544891 4 139326271 [T/G] NR_051987 LINC00499 Silent rs4863797 4 139327019 [A/G] NR_051987 LINC00499 Silent rs17050379 4 139336503 [T/C] NR_051987 LINC00499 Silent rs2976499 4 139336708 [T/C] NR_051987 LINC00499 Silent rs11732157 4 139336851 [T/C] NR_051987 LINC00499 Silent rs17050391 4 139342080 [T/C] NR_051987 LINC00499 Silent rs2912467 4 139345618 [A/G] rs4270620 4 139349170 [T/C] rs2912470 4 139361172 [T/C] rs10519466 4 139366615 [T/C] rs2976490 4 139367276 [T/C] exm2269853 4 139385949 [T/G] rs9308208 4 139396007 [T/C] rs13148881 4 139396693 [T/C] rs13108353 4 139399972 [T/C] rs10018963 4 139409081 [A/G] rs17306529 4 139409291 [T/G] rs299113 4 139431355 [T/C] exm2269974 4 139443162 [T/C] rs1450432 4 139443162 [T/C] rs299160 4 139460404 [T/C] rs13135708 4 139464920 [A/G] rs11730882 4 139482703 [A/G] rs7694744 4 139482958 [T/G] rs1376082 4 139485229 [A/G] rs6831698 4 139486920 [T/G] rs1817031 4 139488136 [T/C] rs1450439 4 139493398 [A/G] rs1376086 4 139494811 [A/G] rs1376088 4 139495121 [A/G] rs13142307 4 139495763 [A/G] rs7435327 4 139497265 [A/G] rs6841254 4 139506065 [T/G] rs9307846 4 139510249 [T/C] rs9685123 4 139513580 [A/G] rs1450453 4 139519532 [A/G] rs7680585 4 139530310 [A/C] rs12639806 4 139532860 [A/G] rs2198030 4 139537855 [T/C] rs12233744 4 139541397 [T/C] rs12502933 4 139568754 [A/G] rs4863578 4 139570038 [A/G] rs6835813 4 139584101 [A/G] rs7692637 4 139590199 [T/G] rs10004565 4 139605950 [T/C] rs17050584 4 139608671 [T/C] rs7667792 4 139624155 [T/C] rs9790693 4 139626820 [T/C] rs4863590 4 139636653 [T/C] rs2135287 4 139646534 [T/C] rs6824816 4 139648420 [T/C] rs10020229 4 139687856 [A/G] rs7686170 4 139690422 [A/G] rs11099746 4 139692069 [T/G] rs1540744 4 139692813 [A/G] rs6855592 4 139698522 [T/G] rs1995598 4 139717020 [T/G] rs6844434 4 139727944 [A/C] rs13118554 4 139734961 [A/C] rs2102309 4 139745929 [A/G] rs4481278 4 139748640 [T/C] rs10006363 4 139753601 [A/G] rs10022416 4 139755093 [A/G] rs2135289 4 139771441 [A/G] rs7689448 4 139790626 [T/G] rs4074856 4 139794516 [A/G] rs6535748 4 139799012 [T/C] rs7684118 4 139814341 [T/C] rs4639023 4 139826720 [A/G] rs10004074 4 139837873 [A/G] rs13146053 4 139839354 [A/G] rs4241923 4 139842608 [T/C] rs6839690 4 139856728 [T/G] rs9790390 4 139861084 [A/G] rs7697018 4 139861368 [T/C] rs11731798 4 139861418 [T/C] rs11723586 4 139884321 [T/C] rs6858120 4 139899443 [T/C] rs7659060 4 139906122 [T/C] rs13101244 4 139907427 [T/G] rs6817458 4 139915883 [T/C] rs1112828 4 139956970 [T/G] NM_012118 CCRN4L Silent exm425077 4 139964386 [A/G] NM_012118 CCRN4L EXON Missense_V117I exm425083 4 139964437 [A/G] NM_012118 CCRN4L EXON Missense_T134A exm425085 4 139964455 [T/C] NM_012118 CCRN4L EXON Missense_H140Y exm425086 4 139964458 [G/C] NM_012118 CCRN4L EXON Missense_P141A exm425090 4 139965859 [A/G] NM_012118 CCRN4L EXON Missense_K176R exm425105 4 139966253 [A/C] NM_012118 CCRN4L EXON Missense_N307K exm425117 4 139966509 [A/G] NM_012118 CCRN4L EXON Missense_D393N exm425144 4 139980741 [T/C] NM_001276459,NM_201999,NM_006874,NM_001276457,NM_001276458 ELF2,ELF2,ELF2,ELF2,ELF2 EXON Missense_Q292R,Missense_Q381R,Missense_Q333R,Missense_Q304R,Missense_Q321R exm425147 4 139981622 [T/C] NM_001276459,NM_201999,NM_006874,NM_001276457,NM_001276458 ELF2,ELF2,ELF2,ELF2,ELF2 EXON Missense_R237H,Missense_R326H,Missense_R278H,Missense_R249H,Missense_R266H exm425148 4 139981623 [A/G] NM_001276459,NM_201999,NM_006874,NM_001276457,NM_001276458 ELF2,ELF2,ELF2,ELF2,ELF2 EXON Missense_R237C,Missense_R326C,Missense_R278C,Missense_R249C,Missense_R266C rs3796637 4 139981918 [T/G] NM_001276459,NM_201999,NM_006874,NM_001276457,NM_001276458 ELF2,ELF2,ELF2,ELF2,ELF2 Silent,Silent,Silent,Silent,Silent exm425165 4 139993175 [A/G] NM_001276459,NM_201999,NM_006874,NM_001276457,NM_001276458 ELF2,ELF2,ELF2,ELF2,ELF2 EXON Silent,Silent,Missense_P64L,Missense_P64L,Silent rs10776526 4 139998918 [A/C] NM_001276459,NM_201999,NM_006874,NM_001276457,NM_001276458 ELF2,ELF2,ELF2,ELF2,ELF2 Silent,Silent,Silent,Silent,Silent rs2292837 4 140006680 [T/G] NM_201999 ELF2 Silent exm2066287 4 140046390 [A/C] NM_201999 ELF2 EXON Missense_Y56D exm425174 4 140058792 [T/G] NM_201999 ELF2 EXON Missense_N22H exm425175 4 140058849 [T/A] NM_201999 ELF2 EXON Missense_S3T rs17050698 4 140077258 [T/C] rs4597768 4 140093565 [T/C] rs1471928 4 140099768 [T/C] exm2265763 4 140115744 [A/G] rs9942285 4 140118204 [A/G] rs12648234 4 140128447 [T/C] rs7660661 4 140151736 [T/C] rs13143516 4 140159339 [A/G] rs4863639 4 140165770 [T/C] rs6835286 4 140166713 [T/C] exm425184 4 140187879 [T/G] NM_032623 MGARP EXON Missense_N199K exm425186 4 140187947 [A/G] NM_032623 MGARP EXON Missense_P177S indel.82853 4 140187950 [I/D] NM_032623 MGARP EXON exm425192 4 140188049 [A/C] NM_032623 MGARP EXON Missense_V143L exm425193 4 140188060 [A/C] NM_032623 MGARP EXON Missense_C139F exm425195 4 140188079 [T/C] NM_032623 MGARP EXON Missense_I133V exm425196 4 140188094 [T/C] NM_032623 MGARP EXON Missense_A128T rs13120574 4 140189613 [A/G] NM_032623 MGARP Silent exm2066296 4 140196466 [T/C] NM_032623 MGARP EXON Missense_T55A exm425205 4 140196495 [T/G] NM_032623 MGARP EXON Missense_N45T exm425211 4 140196538 [A/G] NM_032623 MGARP EXON Missense_R31C variant.82855 4 140196547 [A/C] NM_032623 MGARP Silent exm425220 4 140213733 [G/C] NM_002494,NM_001184990,NM_001184991,NM_001184987,NM_001184986,NM_001184988,NM_001184989 NDUFC1,NDUFC1,NDUFC1,NDUFC1,NDUFC1,NDUFC1,NDUFC1 EXON Missense_E68Q,Missense_E68Q,Missense_E68Q,Missense_E68Q,Missense_E68Q,Missense_E68Q,Missense_E68Q exm2066301 4 140216277 [T/C] NM_002494,NM_001184990,NM_001184991,NM_001184987,NM_001184986,NM_001184988,NM_001184989 NDUFC1,NDUFC1,NDUFC1,NDUFC1,NDUFC1,NDUFC1,NDUFC1 EXON Missense_V31M,Missense_V31M,Missense_V31M,Missense_V31M,Missense_V31M,Missense_V31M,Missense_V31M rs11729130 4 140225539 [T/C] NM_057175 NAA15 Silent rs13147688 4 140228808 [A/G] NM_057175 NAA15 Silent rs1901173 4 140235620 [A/G] NM_057175 NAA15 Silent rs747004 4 140254518 [T/C] NM_057175 NAA15 Silent rs17050742 4 140258872 [A/G] NM_057175 NAA15 Silent exm425246 4 140265415 [T/C] NM_057175 NAA15 EXON Missense_L205F exm425254 4 140270734 [A/G] NM_057175 NAA15 EXON Synonymous_P270P exm425258 4 140272383 [T/G] NM_057175 NAA15 EXON Missense_W284G rs13117654 4 140289285 [A/G] NM_057175 NAA15 Silent exm2256372 4 140291396 [A/T] NM_057175 NAA15 EXON Synonymous_L595L exm425288 4 140300002 [A/C] NM_057175 NAA15 EXON Missense_N717H rs998310 4 140308984 [A/C] NM_057175 NAA15 Silent rs13128827 4 140370149 [A/G] rs17050767 4 140373938 [T/G] exm425308 4 140375580 [T/G] NM_031296 RAB33B EXON Missense_I77M indel.82860 4 140393898 [I/D] NM_031296 RAB33B EXON exm425331 4 140394120 [T/C] NM_031296 RAB33B EXON Missense_T177M exm425334 4 140394245 [T/C] NM_031296 RAB33B EXON Missense_P219S exm425335 4 140394267 [T/C] NM_031296 RAB33B EXON Missense_T226M rs3967770 4 140406637 [A/C] exm-rs17050782 4 140423134 [A/G] rs895600 4 140430625 [A/C] NM_030648 SETD7 EXON Silent exm425348 4 140439162 [A/G] NM_030648 SETD7 EXON Missense_T266I exm425356 4 140444512 [T/C] NM_030648 SETD7 EXON Missense_E214K rs2725779 4 140449420 [T/C] NM_030648 SETD7 Silent exm425361 4 140450287 [T/C] NM_030648 SETD7 EXON Missense_A154T exm2264069 4 140455528 [A/C] NM_030648 SETD7 Silent rs2725790 4 140460303 [T/C] NM_030648 SETD7 Silent rs1995103 4 140466311 [A/G] NM_030648 SETD7 Silent rs6828434 4 140466604 [T/C] NM_030648 SETD7 Silent exm425372 4 140468101 [T/C] NM_030648 SETD7 EXON Missense_R48Q exm425373 4 140468118 [A/G] NM_030648 SETD7 EXON Synonymous_H42H rs706313 4 140496547 [A/G] rs11726931 4 140497312 [T/C] rs2166596 4 140505632 [A/G] rs17282576 4 140513877 [A/G] rs795377 4 140519467 [A/C] rs706337 4 140523889 [A/G] rs13112005 4 140528612 [T/C] rs11936429 4 140537671 [T/C] rs10027416 4 140542427 [A/G] rs706341 4 140545348 [T/G] rs1027472 4 140552399 [T/C] rs11100193 4 140563222 [T/G] rs2602219 4 140575134 [A/G] rs12640152 4 140580748 [A/G] rs795602 4 140581932 [A/G] rs8191998 4 140585089 [T/C] rs2132845 4 140587125 [T/A] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 EXON Silent,Silent,Silent,Silent rs3822044 4 140593264 [T/C] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 Silent,Silent,Silent,Silent rs8192047 4 140596699 [A/G] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 Silent,Silent,Silent,Silent newrs8192062 4 140599737 [I/D] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 EXON indel.82865 4 140599746 [D/I] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 EXON rs2132847 4 140602972 [T/C] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 Silent,Silent,Silent,Silent rs2602243 4 140612059 [T/C] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 Silent,Silent,Silent,Silent rs8192098 4 140616417 [T/C] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 EXON Synonymous_N7N,Synonymous_N75N,Synonymous_N75N,Silent variant.82866 4 140616422 [A/G] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 Silent,Silent,Silent,Silent variant.82867 4 140616426 [T/C] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 Silent,Silent,Silent,Silent exm425395 4 140624612 [T/C] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 EXON Missense_F10S,Missense_F78S,Missense_F78S,Synonymous_F54F exm2066376 4 140624621 [A/G] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 EXON Missense_C13Y,Missense_C81Y,Missense_C81Y,Synonymous_L57L kgp11792105 4 140624656 [T/C] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 EXON Missense_Y25H,Missense_Y93H,Missense_Y93H,Missense_I69T exm425400 4 140624656 [T/C] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 EXON Missense_Y25H,Missense_Y93H,Missense_Y93H,Missense_I69T exm425402 4 140624681 [T/C] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 EXON Missense_A33V,Missense_A101V,Missense_A101V,Synonymous_C77C exm425403 4 140624689 [T/C] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 EXON Missense_R36W,Missense_R104W,Missense_R104W,Silent exm425404 4 140625183 [T/C] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 EXON Nonsense_R41X,Nonsense_R109X,Nonsense_R109X,Silent exm2240472 4 140625267 [T/C] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 EXON Missense_L69F,Missense_L137F,Missense_L137F,Silent kgp4154418 4 140625323 [A/G] NM_001204367,NM_001204366,NM_002413,NM_001204368 MGST2,MGST2,MGST2,MGST2 EXON Silent,Silent,Silent,Silent exm2269975 4 140631947 [T/G] NM_001204367,NM_001204366 MGST2,MGST2 Silent,Silent kgp10850100 4 140637643 [T/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Silent rs11944843 4 140637703 [A/G] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Silent rs13112141 4 140637815 [A/G] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Silent kgp11055146 4 140637871 [A/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Silent kgp8112254 4 140637882 [A/G] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Silent kgp21193720 4 140638074 [T/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Silent kgp21173339 4 140638317 [A/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Silent kgp1297578 4 140638328 [A/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Silent kgp88292 4 140638593 [T/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Silent kgp21321991 4 140638706 [A/G] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Silent kgp6958317 4 140638963 [T/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Silent kgp20992644 4 140639055 [A/G] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Silent kgp3756480 4 140639073 [T/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Silent kgp20899169 4 140639178 [A/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Silent kgp20952843 4 140639356 [T/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Silent kgp3479254 4 140640279 [T/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Silent kgp5819497 4 140640283 [T/G] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Silent exm425409 4 140640527 [A/G] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_P1119S exm425414 4 140640672 [C/G] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_S1070R exm425416 4 140640703 [T/G] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_P1060H exm425417 4 140640704 [A/G] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_P1060S exm425418 4 140640715 [A/G] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_A1056V exm425420 4 140640758 [T/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_M1042V exm425423 4 140640804 [T/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_M1026I exm425432 4 140641207 [T/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_Q892R exm425433 4 140641226 [T/G] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_M886L exm425444 4 140641397 [T/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_A829T exm425448 4 140641454 [T/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_V810I exm425449 4 140641462 [A/G] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_I807T rs6835548 4 140644144 [T/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 Silent,Silent,Silent rs2246759 4 140650730 [A/G] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 Silent,Silent,Silent rs17050893 4 140650787 [T/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 Silent,Silent,Silent kgp22751352 4 140651587 [T/G] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_Q768K kgp9101169 4 140651589 [A/T] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_Q767L exm425464 4 140651649 [A/G] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_I747T exm425468 4 140651719 [T/C] NM_001204367,NM_001204366,NM_018717 MGST2,MGST2,MAML3 EXON Silent,Silent,Missense_G724S rs7674828 4 140663621 [T/G] NM_018717 MAML3 Silent rs7678266 4 140668374 [T/C] NM_018717 MAML3 Silent rs12641953 4 140670043 [T/C] NM_018717 MAML3 Silent rs17050895 4 140677733 [T/G] NM_018717 MAML3 Silent rs4863687 4 140678281 [T/C] NM_018717 MAML3 Silent rs907320 4 140686645 [T/C] NM_018717 MAML3 Silent rs6815550 4 140693868 [A/G] NM_018717 MAML3 Silent rs6839816 4 140702406 [A/G] NM_018717 MAML3 Silent rs6812244 4 140705510 [A/G] NM_018717 MAML3 Silent rs795998 4 140713471 [A/G] NM_018717 MAML3 Silent rs6849438 4 140721565 [T/G] NM_018717 MAML3 Silent rs2604931 4 140724600 [A/G] NM_018717 MAML3 Silent rs795989 4 140729346 [A/G] NM_018717 MAML3 Silent rs1350038 4 140744599 [T/C] NM_018717 MAML3 Silent rs6840907 4 140762420 [T/C] NM_018717 MAML3 Silent rs17050934 4 140765505 [T/C] NM_018717 MAML3 Silent rs795971 4 140776128 [A/C] NM_018717 MAML3 Silent rs2667370 4 140778960 [T/C] NM_018717 MAML3 Silent rs2320535 4 140793181 [T/G] NM_018717 MAML3 Silent rs1531070 4 140795327 [A/G] NM_018717 MAML3 Silent rs4863700 4 140808139 [A/C] NM_018717 MAML3 Silent variant.82870 4 140810454 [A/G] NM_018717 MAML3 Silent exm425480 4 140810546 [G/C] NM_018717 MAML3 EXON Missense_P678A rs11729794 4 140810700 [T/C] NM_018717 MAML3 EXON Synonymous_P626P exm425490 4 140810719 [T/C] NM_018717 MAML3 EXON Missense_N620S exm425520 4 140811292 [T/C] NM_018717 MAML3 EXON Missense_R433Q exm425522 4 140811375 [T/G] NM_018717 MAML3 EXON Missense_N405K exm425527 4 140811451 [A/G] NM_018717 MAML3 EXON Missense_S380F exm425529 4 140811463 [A/G] NM_018717 MAML3 EXON Missense_A376V exm425536 4 140811578 [T/C] NM_018717 MAML3 EXON Missense_E338K exm425540 4 140811709 [T/C] NM_018717 MAML3 EXON Missense_N294S exm425549 4 140811934 [T/G] NM_018717 MAML3 EXON Missense_H219P exm425553 4 140811997 [A/G] NM_018717 MAML3 EXON Missense_A198V rs10026813 4 140816174 [A/G] NM_018717 MAML3 Silent rs9997981 4 140821391 [A/G] NM_018717 MAML3 Silent rs17051001 4 140825430 [T/C] NM_018717 MAML3 Silent rs769654 4 140839169 [A/G] NM_018717 MAML3 Silent rs13127289 4 140849333 [T/G] NM_018717 MAML3 Silent rs769673 4 140882750 [A/G] NM_018717 MAML3 Silent exm2269854 4 140888081 [T/C] NM_018717 MAML3 Silent rs4863711 4 140891385 [T/C] NM_018717 MAML3 Silent rs10519515 4 140901754 [A/C] NM_018717 MAML3 Silent rs7656823 4 140919083 [A/G] NM_018717 MAML3 Silent rs1521491 4 140939653 [T/C] NM_018717 MAML3 Silent rs6851797 4 140942859 [T/C] NM_018717 MAML3 Silent rs17314804 4 140946828 [T/C] NM_018717 MAML3 Silent rs6851301 4 140959594 [A/G] NM_018717 MAML3 Silent rs1402669 4 140985905 [T/C] NM_018717 MAML3 Silent rs7691693 4 141012918 [T/C] NM_018717 MAML3 Silent rs1464435 4 141048606 [A/G] NM_018717 MAML3 Silent rs6858531 4 141053848 [T/C] NM_018717 MAML3 Silent rs7692035 4 141060111 [A/G] NM_018717 MAML3 Silent rs13112302 4 141062977 [T/C] NM_018717 MAML3 Silent rs1521496 4 141069147 [T/G] NM_018717 MAML3 Silent rs6536733 4 141069646 [T/C] NM_018717 MAML3 Silent rs17005617 4 141109029 [T/C] rs17005641 4 141152657 [T/C] rs7659292 4 141172413 [T/C] rs1398186 4 141181146 [T/C] NM_032547 SCOC Silent rs6831812 4 141194324 [A/G] NM_032547 SCOC Silent rs7684736 4 141208028 [A/G] NM_032547,NR_033939 SCOC,LOC100129858 Silent,Silent exm2265874 4 141214222 [A/G] NM_032547,NR_033939 SCOC,LOC100129858 Silent,Silent rs1877410 4 141227577 [T/C] NM_032547,NR_033939 SCOC,LOC100129858 Silent,Silent rs13128278 4 141234930 [A/C] NM_032547,NR_033939 SCOC,LOC100129858 Silent,Silent rs2874445 4 141253396 [T/G] NM_032547,NR_033939 SCOC,LOC100129858 Silent,Silent rs1039988 4 141262836 [A/G] NM_032547,NR_033939 SCOC,LOC100129858 Silent,Silent variant.82871 4 141264773 [A/G] NM_032547,NR_033939,NM_001153635,NM_001153446,NM_001153690,NM_001153585 SCOC,LOC100129858,SCOC,SCOC,SCOC,SCOC EXON Silent,Silent,Silent,Silent,Silent,Silent rs11945466 4 141267864 [T/C] NM_032547,NR_033939,NM_001153635,NM_001153446,NM_001153690,NM_001153585 SCOC,LOC100129858,SCOC,SCOC,SCOC,SCOC Silent,Silent,Silent,Silent,Silent,Silent exm425573 4 141294814 [C/G] NM_032547,NM_001153635,NM_001153446,NM_001153690,NM_001153585,NM_001153484,NM_001153663,NM_001153552 SCOC,SCOC,SCOC,SCOC,SCOC,SCOC,SCOC,SCOC EXON Silent,Silent,Silent,Silent,Silent,Missense_V42L,Missense_V42L,Missense_V42L exm425580 4 141300319 [C/G] NM_032547,NM_001153635,NM_001153446,NM_001153690,NM_001153585,NM_001153484,NM_001153663,NM_001153552 SCOC,SCOC,SCOC,SCOC,SCOC,SCOC,SCOC,SCOC EXON Missense_P39A,Missense_P39A,Missense_P39A,Missense_P39A,Missense_P39A,Missense_P76A,Missense_P76A,Missense_P76A indel.82872 4 141302233 [D/I] NM_032547,NM_001153635,NM_001153446,NM_001153690,NM_001153585,NM_001153484,NM_001153663,NM_001153552 SCOC,SCOC,SCOC,SCOC,SCOC,SCOC,SCOC,SCOC EXON rs4362897 4 141304666 [T/C] exm425586 4 141310389 [A/G] NM_004362,NM_001130675 CLGN,CLGN EXON Nonsense_R608X,Nonsense_R608X exm425590 4 141311874 [T/C] NM_004362,NM_001130675 CLGN,CLGN EXON Missense_S554G,Missense_S554G exm425592 4 141313429 [T/G] NM_004362,NM_001130675 CLGN,CLGN EXON Missense_K532T,Missense_K532T exm425606 4 141315036 [A/C] NM_004362,NM_001130675 CLGN,CLGN EXON Missense_D437Y,Missense_D437Y exm425609 4 141315096 [A/G] NM_004362,NM_001130675 CLGN,CLGN EXON Missense_S417P,Missense_S417P exm425611 4 141315152 [T/G] NM_004362,NM_001130675 CLGN,CLGN EXON Missense_E398A,Missense_E398A exm425613 4 141315174 [T/C] NM_004362,NM_001130675 CLGN,CLGN EXON Missense_I391V,Missense_I391V exm425614 4 141315185 [T/C] NM_004362,NM_001130675 CLGN,CLGN EXON Missense_S387N,Missense_S387N variant.82874 4 141315197 [T/C] NM_004362,NM_001130675 CLGN,CLGN Silent,Silent exm425621 4 141317068 [A/G] NM_004362,NM_001130675 CLGN,CLGN EXON Missense_R352W,Missense_R352W exm425623 4 141317112 [A/G] NM_004362,NM_001130675 CLGN,CLGN EXON Missense_T337M,Missense_T337M variant.82875 4 141317244 [A/C] NM_004362,NM_001130675 CLGN,CLGN Silent,Silent exm425625 4 141317334 [A/C] NM_004362,NM_001130675 CLGN,CLGN EXON Nonsense_E304X,Nonsense_E304X variant.82877 4 141317359 [T/C] NM_004362,NM_001130675 CLGN,CLGN EXON Nonsense_W295X,Nonsense_W295X rs2175562 4 141319793 [A/G] NM_004362,NM_001130675 CLGN,CLGN Silent,Silent exm425626 4 141320021 [T/C] NM_004362,NM_001130675 CLGN,CLGN EXON Missense_V290I,Missense_V290I exm425627 4 141320081 [A/G] NM_004362,NM_001130675 CLGN,CLGN EXON Missense_P270S,Missense_P270S exm425629 4 141320141 [T/C] NM_004362,NM_001130675 CLGN,CLGN EXON Missense_K250E,Missense_K250E indel.82878 4 141320162 [I/D] NM_004362,NM_001130675 CLGN,CLGN EXON newrs137939769 4 141320195 [T/C] NM_004362,NM_001130675 CLGN,CLGN Silent,Silent exm425634 4 141321510 [A/C] NM_004362,NM_001130675 CLGN,CLGN Silent,Silent exm425635 4 141321589 [T/C] NM_004362,NM_001130675 CLGN,CLGN EXON Missense_E206K,Missense_E206K rs7681627 4 141322236 [T/C] NM_004362,NM_001130675 CLGN,CLGN Silent,Silent exm425641 4 141323155 [A/G] NM_004362,NM_001130675 CLGN,CLGN EXON Missense_T162I,Missense_T162I exm425642 4 141323162 [A/C] NM_004362,NM_001130675 CLGN,CLGN EXON Missense_A160S,Missense_A160S exm425643 4 141323200 [A/T] NM_004362,NM_001130675 CLGN,CLGN EXON Missense_D147V,Missense_D147V exm425647 4 141327138 [A/C] NM_004362,NM_001130675 CLGN,CLGN EXON Nonsense_L126X,Nonsense_L126X exm425662 4 141334150 [A/G] NM_004362,NM_001130675 CLGN,CLGN EXON Missense_T28M,Missense_T28M rs10519554 4 141341312 [A/G] NM_004362,NM_001130675 CLGN,CLGN Silent,Silent rs10012138 4 141343133 [A/G] NM_004362,NM_001130675 CLGN,CLGN Silent,Silent rs1367705 4 141350602 [T/G] rs2060074 4 141358232 [A/G] rs17005918 4 141364288 [T/C] rs1897280 4 141372158 [T/C] rs6836265 4 141379314 [T/C] rs12509826 4 141381635 [T/C] exm-rs1594468 4 141387438 [T/C] rs2874478 4 141404389 [A/G] rs10519560 4 141409324 [A/G] rs2321270 4 141422317 [T/G] rs9790415 4 141428878 [A/G] rs1241046 4 141436854 [T/C] exm425667 4 141446611 [A/G] NM_153702 ELMOD2 EXON Missense_Y10C var_4_141458611 4 141458612 [D/I] NM_153702 ELMOD2 EXON exm425694 4 141461350 [A/C] NM_153702 ELMOD2 EXON Missense_K143T exm425697 4 141463760 [A/G] NM_153702 ELMOD2 EXON Missense_H189R exm425702 4 141464666 [A/G] NM_153702 ELMOD2 EXON Missense_S221N exm425705 4 141464721 [A/T] NM_153702 ELMOD2 EXON Missense_E239D rs2321272 4 141465244 [T/C] NM_153702 ELMOD2 Silent exm425715 4 141481151 [A/G] NM_021833 UCP1 EXON Missense_F275L exm2066446 4 141481163 [A/G] NM_021833 UCP1 EXON Synonymous_L271L rs6536991 4 141481581 [T/C] NM_021833 UCP1 Silent exm425722 4 141483481 [A/G] NM_021833 UCP1 EXON Synonymous_C225C indel.82888 4 141483487 [I/D] NM_021833 UCP1 EXON newrs147778681 4 141484263 [T/C] NM_021833 UCP1 Silent exm425731 4 141484281 [A/T] NM_021833 UCP1 EXON Missense_K204I exm425735 4 141484496 [T/C] NM_021833 UCP1 EXON Missense_E168K exm425739 4 141484540 [T/C] NM_021833 UCP1 EXON Missense_R153H exm425740 4 141484541 [A/G] NM_021833 UCP1 EXON Missense_R153C exm425743 4 141484633 [A/G] NM_021833 UCP1 EXON Missense_T122M exm425753 4 141489068 [T/C] NM_021833 UCP1 EXON Missense_A64T exm425754 4 141489089 [T/C] NM_021833 UCP1 EXON Missense_G57S variant.82890 4 141489117 [T/G] NM_021833 UCP1 EXON Nonsense_C47X exm425757 4 141489127 [T/C] NM_021833 UCP1 EXON Missense_Q44R exm425758 4 141489131 [A/C] NM_021833 UCP1 EXON Missense_V43F exm425759 4 141489766 [A/G] NM_021833 UCP1 EXON Missense_R40W rs2043125 4 141494104 [A/G] rs12645959 4 141496369 [T/G] rs2195645 4 141513385 [T/G] rs12640614 4 141518965 [T/C] rs4956325 4 141537771 [A/G] exm425780 4 141543915 [T/C] NM_015130 TBC1D9 EXON Missense_G1079R exm2066467 4 141544016 [T/C] NM_015130 TBC1D9 EXON Missense_N1045S exm425784 4 141545346 [T/C] NM_015130 TBC1D9 EXON Missense_R1001H rs3816933 4 141548569 [T/C] NM_015130 TBC1D9 Silent exm425787 4 141549463 [T/C] NM_015130 TBC1D9 EXON Missense_V935I rs10002459 4 141554949 [A/G] NM_015130 TBC1D9 Silent exm425789 4 141555128 [T/G] NM_015130 TBC1D9 EXON Missense_N907T exm425792 4 141555183 [T/C] NM_015130 TBC1D9 EXON Missense_V889I exm425801 4 141560492 [A/G] NM_015130 TBC1D9 EXON Missense_R810C exm2240479 4 141560567 [A/G] NM_015130 TBC1D9 EXON Missense_R785W rs17392415 4 141569847 [T/C] NM_015130 TBC1D9 Silent rs1430580 4 141570672 [A/G] NM_015130 TBC1D9 Silent rs13109751 4 141573742 [A/G] NM_015130 TBC1D9 Silent rs7683748 4 141578155 [T/C] NM_015130 TBC1D9 Silent exm425809 4 141578253 [T/C] NM_015130 TBC1D9 EXON Missense_E779K exm425811 4 141578292 [A/G] NM_015130 TBC1D9 EXON Missense_P766S exm425816 4 141578904 [T/C] NM_015130 TBC1D9 EXON Missense_D662N rs6845527 4 141589301 [A/G] NM_015130 TBC1D9 Silent rs12643256 4 141593715 [T/C] NM_015130 TBC1D9 Silent rs1469539 4 141597913 [A/G] NM_015130 TBC1D9 Silent variant.82892 4 141598047 [T/C] NM_015130 TBC1D9 Silent rs2303912 4 141598290 [A/G] NM_015130 TBC1D9 Silent exm425857 4 141600356 [T/C] NM_015130 TBC1D9 EXON Synonymous_A197A rs13149166 4 141620931 [T/C] NM_015130 TBC1D9 Silent exm2256377 4 141622665 [A/G] NM_015130 TBC1D9 EXON Synonymous_I78I rs11731292 4 141625217 [A/G] NM_015130 TBC1D9 Silent rs7688945 4 141642216 [A/C] NM_015130 TBC1D9 Silent rs17006401 4 141652922 [A/G] NM_015130 TBC1D9 Silent rs4555724 4 141658697 [T/C] NM_015130 TBC1D9 Silent exm425867 4 141677088 [T/C] NM_015130 TBC1D9 EXON Missense_G38S rs6843792 4 141682299 [A/G] rs6810701 4 141716419 [T/C] rs6836292 4 141770572 [T/C] rs1487565 4 141779593 [A/G] rs3733480 4 141783990 [T/C] rs7655676 4 141784596 [A/G] rs6829449 4 141804520 [T/C] NM_020724 RNF150 Silent rs1863305 4 141812185 [A/G] NM_020724 RNF150 Silent rs1863307 4 141812645 [A/G] NM_020724 RNF150 Silent rs767761 4 141816657 [A/C] NM_020724 RNF150 Silent rs3844179 4 141820214 [A/G] NM_020724 RNF150 Silent rs1863301 4 141831660 [T/C] NM_020724 RNF150 Silent indel.82893 4 141832291 [I/D] NM_020724 RNF150 exm425877 4 141832316 [T/C] NM_020724 RNF150 EXON Missense_V394I exm425878 4 141832349 [C/G] NM_020724 RNF150 EXON Missense_Q383E exm425884 4 141832499 [T/C] NM_020724 RNF150 EXON Missense_D333N exm425886 4 141832504 [T/C] NM_020724 RNF150 EXON Missense_N331S rs874776 4 141833025 [A/G] NM_020724 RNF150 Silent rs1834382 4 141833535 [T/C] NM_020724 RNF150 Silent rs6537018 4 141836576 [A/G] NM_020724 RNF150 Silent rs1425446 4 141845421 [A/G] NM_020724 RNF150 Silent newrs145026998 4 141847130 [T/C] NM_020724 RNF150 Silent rs7658326 4 141853440 [A/G] NM_020724 RNF150 Silent rs6537023 4 141865303 [T/C] NM_020724 RNF150 Silent rs1001487 4 141868515 [T/C] NM_020724 RNF150 Silent rs2321689 4 141875683 [T/C] NM_020724 RNF150 Silent exm2256378 4 141877063 [A/G] NM_020724 RNF150 Silent rs7689080 4 141879419 [T/C] NM_020724 RNF150 Silent rs1364880 4 141890683 [A/C] NM_020724 RNF150 Silent rs1425431 4 141891566 [T/C] NM_020724 RNF150 Silent rs6820265 4 141903402 [T/C] NM_020724 RNF150 Silent rs9884460 4 141905646 [T/C] NM_020724 RNF150 Silent rs11726692 4 141920037 [A/G] NM_020724 RNF150 Silent rs12643749 4 141929562 [T/C] NM_020724 RNF150 Silent rs7687054 4 141933097 [T/C] NM_020724 RNF150 Silent rs3851424 4 141937337 [T/C] NM_020724 RNF150 Silent rs2059499 4 141942359 [A/G] NM_020724 RNF150 Silent rs9993321 4 141960841 [T/C] NM_020724 RNF150 Silent rs7687232 4 141963286 [T/C] NM_020724 RNF150 Silent rs12505705 4 141968129 [A/G] NM_020724 RNF150 Silent rs12650097 4 141970192 [A/G] NM_020724 RNF150 Silent rs13116646 4 141972002 [T/C] NM_020724 RNF150 Silent rs4956344 4 141980240 [A/G] NM_020724 RNF150 Silent rs2321859 4 141995467 [A/G] NM_020724 RNF150 Silent rs3851432 4 141996416 [T/C] NM_020724 RNF150 Silent rs6537029 4 142007952 [A/G] NM_020724 RNF150 Silent rs6836603 4 142011361 [T/C] NM_020724 RNF150 Silent rs10454797 4 142016173 [A/G] NM_020724 RNF150 Silent rs4629541 4 142024322 [T/G] NM_020724 RNF150 Silent rs4956517 4 142043379 [T/C] NM_020724 RNF150 Silent exm425907 4 142053488 [A/G] NM_020724 RNF150 EXON Missense_P159S exm425912 4 142053625 [T/C] NM_020724 RNF150 EXON Missense_R113H exm425916 4 142053711 [G/C] NM_020724 RNF150 EXON Missense_Q84H exm425927 4 142053955 [A/C] NM_020724 RNF150 EXON Missense_M3R rs4956520 4 142066755 [A/G] exm2269976 4 142067235 [T/C] rs241867 4 142068023 [T/C] rs10014312 4 142074259 [A/G] rs4956353 4 142081109 [A/C] rs7666238 4 142095763 [A/G] rs1550057 4 142117424 [A/G] exm-rs1550057 4 142117424 [A/G] rs2117576 4 142119839 [A/G] rs6822047 4 142125380 [A/G] rs17007008 4 142141504 [A/G] exm-rs17007017 4 142142729 [A/G] NM_014487 ZNF330 Silent exm425933 4 142143607 [A/G] NM_014487 ZNF330 EXON Missense_T28A rs17007021 4 142143781 [A/G] NM_014487 ZNF330 Silent exm425936 4 142145641 [A/G] NM_014487 ZNF330 EXON Missense_E41K exm425947 4 142150779 [A/G] NM_014487 ZNF330 EXON Missense_S116G exm425957 4 142152605 [A/G] NM_014487 ZNF330 EXON Missense_N179S exm425967 4 142153790 [A/G] NM_014487 ZNF330 EXON Missense_M228V exm425970 4 142155072 [A/T] NM_014487 ZNF330 EXON Missense_L298M rs1435127 4 142159511 [T/C] rs10002917 4 142169704 [T/C] rs1304390 4 142187853 [T/C] rs354843 4 142188804 [T/C] rs6840028 4 142197917 [T/C] rs3114024 4 142203334 [T/C] rs3098027 4 142204581 [T/C] rs354850 4 142212781 [T/C] rs17007137 4 142224247 [A/G] rs6818727 4 142230739 [A/G] rs1369970 4 142246430 [A/G] rs1946731 4 142247487 [A/C] rs6838972 4 142291367 [A/G] rs6825690 4 142296923 [A/G] rs1561152 4 142322777 [T/C] rs10519598 4 142331044 [T/G] rs1057260 4 142352369 [A/C] exm2269855 4 142354508 [T/C] rs17007266 4 142355535 [T/C] rs2139994 4 142399645 [T/C] rs13140249 4 142419423 [A/G] rs6852582 4 142420702 [A/G] rs7698747 4 142424409 [A/C] rs12644130 4 142432407 [T/C] rs13132036 4 142466804 [T/C] rs6857587 4 142478548 [T/G] rs7671019 4 142515516 [A/G] rs6835391 4 142533402 [T/C] rs1519551 4 142570472 [A/G] NR_037840,NM_000585,NM_172175 IL15,IL15,IL15 Silent,Silent,Silent kgp9374728 4 142573714 [A/G] NR_037840,NM_000585,NM_172175 IL15,IL15,IL15 Silent,Silent,Silent rs2322301 4 142636313 [T/C] NR_037840,NM_000585,NM_172175 IL15,IL15,IL15 Silent,Silent,Silent rs6850492 4 142637305 [A/G] NR_037840,NM_000585,NM_172175 IL15,IL15,IL15 Silent,Silent,Silent exm425986 4 142649121 [T/C] NR_037840,NM_000585,NM_172175 IL15,IL15,IL15 EXON Silent,Missense_T75M,Missense_T48M exm425988 4 142649127 [A/G] NR_037840,NM_000585,NM_172175 IL15,IL15,IL15 EXON Silent,Missense_S77N,Missense_S50N exm2256380 4 142650413 [T/C] NR_037840,NM_000585,NM_172175 IL15,IL15,IL15 Silent,Silent,Silent exm425993 4 142651066 [A/G] NR_037840,NM_000585,NM_172175 IL15,IL15,IL15 EXON Silent,Missense_G103R,Missense_G76R exm2273397 4 142654084 [A/C] NR_037840,NM_000585,NM_172175 IL15,IL15,IL15 EXON Silent,Silent,Silent rs1493025 4 142657057 [A/G] rs9990563 4 142675412 [T/C] rs4254850 4 142688390 [T/C] rs1493015 4 142691963 [T/C] rs9996010 4 142699341 [A/G] rs1389098 4 142705418 [A/G] exm-rs17007695 4 142709723 [T/C] rs1493023 4 142710442 [A/C] rs17701271 4 142711243 [A/C] rs6537072 4 142715747 [T/C] rs10013727 4 142715821 [A/G] rs1304684 4 142719886 [A/G] rs4956412 4 142723797 [T/C] rs10018731 4 142728951 [T/C] rs11100727 4 142732365 [A/G] rs10033645 4 142732715 [A/G] rs13147278 4 142744198 [T/C] rs11944032 4 142797440 [T/C] rs12503750 4 142808503 [A/G] rs713281 4 142820445 [T/C] rs9993798 4 142834152 [A/G] rs2133926 4 142836161 [A/G] rs11731062 4 142849228 [T/G] rs1392779 4 142853017 [A/G] rs6537091 4 142874553 [T/C] rs4455499 4 142880833 [A/G] rs1604236 4 142898552 [A/G] rs1995960 4 142916958 [A/G] rs11736202 4 142944080 [T/C] rs336350 4 142955593 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs2667096 4 142969773 [T/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs1511252 4 142974842 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs12501475 4 142994344 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent exm426026 4 143007392 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_E798K,Missense_E798K rs336292 4 143013388 [T/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs6537101 4 143014164 [A/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs336297 4 143014875 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs336304 4 143019415 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent variant.82901 4 143029344 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent exm426051 4 143043366 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_V684I,Missense_V684I exm426055 4 143043397 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B EXON Synonymous_S673S,Synonymous_S673S exm426058 4 143044445 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_S673G,Missense_S673G rs978752 4 143045599 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent exm426066 4 143045786 [C/G] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_Q616H,Missense_Q616H exm426067 4 143045853 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_V594A,Missense_V594A rs3775652 4 143049980 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs336408 4 143055538 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs10519631 4 143066199 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent exm426072 4 143067053 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_G554S,Missense_G554S exm426073 4 143067054 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B EXON Synonymous_G553G,Synonymous_G553G exm426076 4 143067148 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_D522G,Missense_D522G rs1390993 4 143094698 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent variant.82903 4 143094924 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_T407I,Missense_T407I rs2636683 4 143098083 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs2130687 4 143115192 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent exm426093 4 143130076 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_I314V,Missense_I314V rs10452237 4 143132237 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent exm2066611 4 143191881 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B EXON Missense_V184M,Missense_V184M rs2627813 4 143208349 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs2172023 4 143217391 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs3822152 4 143224296 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs1907107 4 143229634 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs1872294 4 143232702 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs2636670 4 143234593 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent exm426110 4 143235865 [C/G] NM_001101669,NM_003866 INPP4B,INPP4B EXON Synonymous_G141G,Synonymous_G141G rs17015920 4 143240651 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs6844681 4 143247240 [A/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs7666932 4 143259305 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs1908968 4 143268702 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs716762 4 143272497 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent exm2269857 4 143283973 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs11930321 4 143305002 [T/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs1391097 4 143309895 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs10006795 4 143318673 [A/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs1489577 4 143331154 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs6820463 4 143343605 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs12499068 4 143343632 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs1497391 4 143346040 [A/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent exm426121 4 143350369 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B EXON Synonymous_S31S,Synonymous_S31S rs1391099 4 143373910 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent exm-rs1391099 4 143373910 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs1013397 4 143375877 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs3913163 4 143394613 [T/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs1593360 4 143414537 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs1425533 4 143421175 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs1364920 4 143437219 [T/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs975136 4 143450575 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs6814775 4 143476181 [T/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent exm2265876 4 143488095 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs6856817 4 143534216 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs7685002 4 143562086 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs13119090 4 143578523 [T/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs13133181 4 143610293 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs12650777 4 143617099 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs11942593 4 143626567 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs4690698 4 143639211 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs4690699 4 143639498 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent kgp5983705 4 143643387 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs12504681 4 143708921 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs1992418 4 143737159 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs1444949 4 143747354 [T/C] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs7661683 4 143753450 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs17016828 4 143757682 [A/G] NM_001101669,NM_003866 INPP4B,INPP4B Silent,Silent rs2218240 4 143772767 [A/C] rs6537129 4 143779613 [A/G] rs2874907 4 143796487 [T/G] rs11933657 4 143827182 [A/G] rs716878 4 143835306 [A/G] rs732601 4 143842458 [T/C] rs6834625 4 143861348 [A/G] rs1510136 4 143882545 [A/G] rs17017089 4 143904995 [T/C] rs1104696 4 143936903 [A/G] rs13136216 4 143960787 [A/G] rs4690760 4 143972745 [T/C] rs11100768 4 143981731 [A/G] rs7686660 4 144003159 [T/G] rs10471103 4 144033656 [T/G] rs11100769 4 144043466 [T/C] exm2265767 4 144060464 [A/G] rs11100780 4 144104906 [A/G] exm426136 4 144106782 [T/G] NM_032557 USP38 EXON Missense_V60G rs13140326 4 144114413 [A/G] NM_032557 USP38 Silent exm2066639 4 144116976 [T/G] NM_032557 USP38 EXON Missense_V309G exm426165 4 144127342 [A/G] NM_032557 USP38 EXON Missense_M456V exm426182 4 144134924 [T/C] NM_032557 USP38 EXON Missense_R599C exm426183 4 144134925 [A/G] NM_032557 USP38 EXON Missense_R599H exm426187 4 144135006 [T/C] NM_032557 USP38 EXON Missense_L626S indel.82908 4 144135098 [D/I] NM_032557 USP38 EXON exm426193 4 144135155 [A/G] NM_032557 USP38 EXON Missense_K676E exm2274049 4 144135519 [T/C] NM_032557 USP38 EXON Missense_I797T exm426221 4 144135981 [A/G] NM_032557 USP38 EXON Missense_S951N exm426224 4 144136025 [A/G] NM_032557 USP38 EXON Missense_I966V kgp9729209 4 144143020 [T/C] NM_032557 USP38 EXON Silent kgp7856201 4 144147007 [T/C] rs763918 4 144193117 [T/G] rs12643013 4 144206948 [T/C] rs17686361 4 144207686 [A/G] rs300905 4 144240473 [A/G] rs300913 4 144276643 [T/C] NM_207123,NM_002039 GAB1,GAB1 Silent,Silent rs300912 4 144276717 [A/G] NM_207123,NM_002039 GAB1,GAB1 Silent,Silent rs1472873 4 144289305 [T/C] NM_207123,NM_002039 GAB1,GAB1 Silent,Silent rs3805253 4 144289502 [A/G] NM_207123,NM_002039 GAB1,GAB1 Silent,Silent exm426241 4 144354745 [A/G] NM_207123,NM_002039 GAB1,GAB1 EXON Missense_T157A,Missense_T157A rs3805236 4 144357737 [A/G] NM_207123,NM_002039 GAB1,GAB1 Silent,Silent exm426255 4 144359490 [T/C] NM_207123,NM_002039 GAB1,GAB1 EXON Missense_P311L,Missense_P311L exm426262 4 144359648 [T/C] NM_207123,NM_002039 GAB1,GAB1 EXON Missense_R364C,Missense_R364C exm426265 4 144359664 [T/C] NM_207123,NM_002039 GAB1,GAB1 EXON Missense_T369I,Missense_T369I exm2240484 4 144359688 [T/C] NM_207123,NM_002039 GAB1,GAB1 EXON Missense_T377I,Missense_T377I indel.82915 4 144378881 [I/D] NM_207123,NM_002039 GAB1,GAB1 EXON rs3795246 4 144381401 [A/G] NM_207123,NM_002039 GAB1,GAB1 Silent,Silent exm2273398 4 144390602 [T/C] NM_207123,NM_002039 GAB1,GAB1 EXON Silent,Silent rs11947756 4 144398793 [T/C] rs11735967 4 144401524 [T/C] exm426306 4 144435238 [T/C] NM_003601 SMARCA5 EXON Missense_A54V exm2256384 4 144449134 [A/G] NM_003601 SMARCA5 EXON Synonymous_L305L exm426331 4 144449134 [A/G] NM_003601 SMARCA5 EXON Synonymous_L305L variant.82919 4 144451684 [T/G] NM_003601 SMARCA5 Silent rs11944532 4 144451912 [A/G] NM_003601 SMARCA5 Silent variant.82920 4 144457836 [T/C] NM_003601 SMARCA5 Silent rs7692376 4 144466050 [A/G] NM_003601 SMARCA5 Silent exm426377 4 144468049 [A/G] NM_003601 SMARCA5 EXON Missense_I881V exm426379 4 144468559 [A/G] NM_003601 SMARCA5 EXON Missense_N892S rs11732122 4 144477601 [A/G] NM_003601 SMARCA5 EXON Silent rs924233 4 144480013 [A/G] rs17017907 4 144480231 [T/C] rs2323187 4 144493185 [A/C] exm426409 4 144498768 [T/C] NM_001168235 FREM3 EXON Missense_D2139G exm426411 4 144498805 [T/C] NM_001168235 FREM3 EXON Missense_I2127V exm426414 4 144498955 [T/C] NM_001168235 FREM3 EXON Missense_V2077M exm426415 4 144507033 [T/C] NM_001168235 FREM3 EXON Missense_V2048M rs10032932 4 144508554 [A/G] NM_001168235 FREM3 Silent exm426424 4 144532627 [A/G] NM_001168235 FREM3 EXON Missense_R1945C exm426425 4 144532644 [A/G] NM_001168235 FREM3 EXON Missense_F1939S exm426427 4 144542213 [A/G] NM_001168235 FREM3 EXON Missense_I1919T rs1391187 4 144543099 [A/G] NM_001168235 FREM3 Silent exm2265877 4 144546704 [A/G] NM_001168235 FREM3 Silent rs1450237 4 144559530 [A/G] NM_001168235 FREM3 Silent rs1826927 4 144574139 [T/G] NM_001168235 FREM3 Silent rs1349325 4 144575873 [T/G] NM_001168235 FREM3 Silent rs11100801 4 144586417 [T/C] NM_001168235 FREM3 Silent rs6840604 4 144593162 [A/G] NM_001168235 FREM3 Silent exm426444 4 144617316 [T/C] NM_001168235 FREM3 EXON Missense_E1505K exm426445 4 144617347 [C/G] NM_001168235 FREM3 EXON Missense_N1494K exm426447 4 144617397 [A/T] NM_001168235 FREM3 EXON Missense_Y1478N rs1545437 4 144617842 [T/G] NM_001168235 FREM3 EXON Synonymous_I1329I exm2256385 4 144617842 [T/G] NM_001168235 FREM3 EXON Synonymous_I1329I exm426466 4 144618119 [T/C] NM_001168235 FREM3 EXON Missense_R1237Q exm426471 4 144618344 [T/C] NM_001168235 FREM3 EXON Missense_Q1162R exm426474 4 144618496 [T/A] NM_001168235 FREM3 EXON Missense_S1111R exm426476 4 144618610 [G/C] NM_001168235 FREM3 EXON Missense_F1073L indel.82923 4 144618679 [D/I] NM_001168235 FREM3 EXON exm426477 4 144618683 [T/C] NM_001168235 FREM3 EXON Missense_G1049E variant.82924 4 144618772 [A/C] NM_001168235 FREM3 EXON Nonsense_Y1019X exm426486 4 144619088 [T/G] NM_001168235 FREM3 EXON Missense_T914N exm426491 4 144619220 [T/C] NM_001168235 FREM3 EXON Missense_R870Q exm426493 4 144619314 [T/G] NM_001168235 FREM3 EXON Missense_I839L exm426498 4 144619592 [A/G] NM_001168235 FREM3 EXON Missense_T746I exm426499 4 144619637 [A/G] NM_001168235 FREM3 EXON Missense_I731T indel.82925 4 144619766 [I/D] NM_001168235 FREM3 EXON exm426510 4 144620193 [A/C] NM_001168235 FREM3 EXON Missense_V546F exm426511 4 144620259 [T/C] NM_001168235 FREM3 EXON Missense_G524R exm426514 4 144620342 [A/G] NM_001168235 FREM3 EXON Missense_A496V exm426515 4 144620391 [T/G] NM_001168235 FREM3 EXON Missense_Q480K exm426534 4 144621002 [T/C] NM_001168235 FREM3 EXON Missense_G276D exm426539 4 144621294 [T/C] NM_001168235 FREM3 EXON Missense_E179K exm426544 4 144621585 [A/G] NM_001168235 FREM3 EXON Missense_L82F rs2019159 4 144635129 [A/C] rs7687915 4 144680954 [T/G] rs17018500 4 144746002 [T/C] rs6844978 4 144754147 [A/C] exm2269858 4 144784844 [T/C] rs1808991 4 144792959 [T/G] NM_198682 GYPE EXON Silent indel.82928 4 144801598 [I/D] NM_198682,NM_002102 GYPE,GYPE EXON exm2240491 4 144801623 [T/G] NM_198682,NM_002102 GYPE,GYPE EXON Missense_A26E,Missense_A26E rs9997931 4 144825754 [T/C] NM_198682,NM_002102 GYPE,GYPE Silent,Silent rs10857415 4 144829906 [T/C] rs1912745 4 144878737 [T/C] rs4613514 4 144882744 [A/G] rs9799404 4 144894260 [T/C] newrs139511876 4 144918688 [A/C] NM_002100 GYPB Silent exm426582 4 144918704 [A/G] NM_002100 GYPB EXON Nonsense_R87X exm426584 4 144918712 [C/G] NM_002100 GYPB EXON Missense_S84T exm426589 4 144918733 [A/G] NM_002100 GYPB EXON Missense_T77M indel.82934 4 144918752 [D/I] NM_002100 GYPB EXON exm426591 4 144918755 [A/C] NM_002100 GYPB EXON Missense_V70L exm426592 4 144918760 [A/C] NM_002100 GYPB EXON Missense_L68W rs34617896 4 144949348 [T/C] rs7657795 4 145009802 [A/C] rs4535287 4 145028431 [A/G] rs11728240 4 145030701 [A/G] NM_002099 GYPA EXON Silent rs4425323 4 145033532 [A/G] NM_002099 GYPA Silent exm426619 4 145035851 [T/C] NM_002099 GYPA EXON Missense_E143K exm426620 4 145035868 [A/C] NM_002099 GYPA EXON Nonsense_L137X variant.82937 4 145038131 [T/C] NM_002099 GYPA Silent exm426639 4 145040841 [A/G] NM_002099 GYPA EXON Missense_T77I variant.82938 4 145040923 [A/G] NM_002099 GYPA EXON Missense_R50W exm2275773 4 145040931 [A/G] NM_002099 GYPA EXON Missense_T47M rs13103731 4 145056487 [T/C] NM_002099 GYPA Silent rs6812128 4 145102264 [T/G] rs4599356 4 145123453 [A/G] rs4303930 4 145135525 [A/C] rs4423828 4 145141405 [T/C] rs4392468 4 145148701 [T/G] rs7658605 4 145151018 [A/G] exm2265768 4 145174382 [A/G] rs11100843 4 145177682 [T/C] rs7681569 4 145203640 [A/G] rs13146588 4 145210834 [A/G] rs12711416 4 145213954 [T/C] rs7674504 4 145214922 [T/C] rs13118083 4 145227600 [A/G] rs4256191 4 145240011 [A/C] rs7377575 4 145254685 [T/C] rs2719341 4 145263286 [T/G] rs6840871 4 145264014 [T/C] rs6849200 4 145273780 [A/C] rs2657799 4 145282779 [T/C] rs970022 4 145293039 [T/C] rs1394998 4 145302155 [T/C] rs17019341 4 145334169 [T/C] rs12512146 4 145347980 [T/G] rs7695767 4 145353554 [T/C] rs1602238 4 145363247 [T/C] rs12499685 4 145366500 [T/C] rs749316 4 145371346 [A/G] rs11935246 4 145429056 [T/C] rs1512282 4 145431497 [A/G] exm-rs12504628 4 145436324 [T/C] rs7677035 4 145437319 [A/G] exm-rs13147758 4 145460230 [A/G] rs1489759 4 145474473 [A/G] exm-rs1828591 4 145480780 [A/G] exm-rs1980057 4 145485738 [T/C] rs7655625 4 145485915 [T/C] exm-rs13118928 4 145486389 [A/G] rs6828255 4 145489265 [A/C] rs13141641 4 145506456 [T/C] rs6852830 4 145506558 [A/C] rs7677662 4 145513053 [A/G] rs17776795 4 145544836 [A/G] rs2575574 4 145544935 [A/G] rs2575572 4 145552729 [T/C] rs1398244 4 145562457 [T/C] exm426665 4 145567957 [T/C] NM_022475 HHIP EXON Missense_P44S rs7689420 4 145568352 [T/C] NM_022475 HHIP Silent exm-rs7689420 4 145568352 [T/C] NM_022475 HHIP Silent exm426671 4 145573944 [T/C] NM_022475 HHIP EXON Missense_I156T exm-rs1812175 4 145574844 [A/G] NM_022475 HHIP Silent exm426679 4 145580003 [C/G] NM_022475 HHIP EXON Missense_L178F variant.82939 4 145580767 [T/C] NM_022475 HHIP Silent exm426685 4 145580830 [A/G] NM_022475 HHIP EXON Missense_S224N exm426689 4 145580866 [A/G] NM_022475 HHIP EXON Missense_G236E rs2306924 4 145582536 [A/G] NM_022475 HHIP Silent rs6819412 4 145605033 [T/C] NM_022475 HHIP Silent rs6537309 4 145605075 [T/C] NM_022475 HHIP Silent rs7654947 4 145625730 [T/C] NM_022475 HHIP Silent exm2066778 4 145627777 [A/G] NM_022475 HHIP EXON Missense_R309Q exm2240497 4 145629326 [A/C] NM_022475 HHIP EXON Missense_F388L exm426707 4 145629372 [A/G] NM_022475 HHIP EXON Missense_V404M exm426713 4 145633146 [T/C] NM_022475 HHIP EXON Missense_T449M exm-rs6854783 4 145643079 [A/G] NM_022475 HHIP Silent exm-rs1492820 4 145650021 [A/G] NM_022475 HHIP Silent rs1492820 4 145650021 [A/G] NM_022475 HHIP Silent exm426744 4 145656037 [T/A] NM_022475 HHIP EXON Missense_R635S exm2256389 4 145658429 [T/C] NM_022475 HHIP Silent rs2639577 4 145661910 [A/G] rs11944404 4 145670871 [T/C] rs2353934 4 145697040 [T/C] kgp3206674 4 145706070 [T/C] rs10857421 4 145739142 [T/C] rs12651029 4 145770167 [A/G] rs4555661 4 145782963 [T/C] rs11100870 4 145822014 [T/G] rs813139 4 145858473 [A/G] rs813138 4 145914748 [A/G] exm426764 4 145916666 [A/C] NM_001256712,NM_001256709,NM_001256710,NM_001256707,NM_001256706,NM_001256711,NM_001256708,NM_014885,NR_046345 ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10 EXON Silent,Missense_I150M,Silent,Missense_I139M,Missense_I139M,Silent,Missense_I139M,Missense_I139M,Silent kgp953576 4 145917557 [T/C] NM_001256712,NM_001256709,NM_001256710,NM_001256707,NM_001256706,NM_001256711,NM_001256708,NM_014885,NR_046345 ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp992657 4 145933328 [A/G] NM_001256712,NM_001256709,NM_001256710,NM_001256707,NM_001256706,NM_001256711,NM_001256708,NM_014885,NR_046345 ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17781702 4 145984839 [A/C] NM_001256712,NM_001256709,NM_001256710,NM_001256707,NM_001256706,NM_001256711,NM_001256708,NM_014885,NR_046345 ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs13115967 4 145996754 [T/C] NM_001256712,NM_001256709,NM_001256710,NM_001256707,NM_001256706,NM_001256711,NM_001256708,NM_014885,NR_046345 ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.82940 4 146002807 [A/G] NM_001256712,NM_001256709,NM_001256710,NM_001256707,NM_001256706,NM_001256711,NM_001256708,NM_014885,NR_046345 ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm426771 4 146002881 [T/C] NM_001256712,NM_001256709,NM_001256710,NM_001256707,NM_001256706,NM_001256711,NM_001256708,NM_014885,NR_046345 ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10 EXON Missense_R46Q,Missense_R57Q,Missense_R46Q,Missense_R46Q,Missense_R46Q,Missense_R46Q,Missense_R46Q,Missense_R46Q,Silent variant.82941 4 146002882 [A/G] NM_001256712,NM_001256709,NM_001256710,NM_001256707,NM_001256706,NM_001256711,NM_001256708,NM_014885,NR_046345 ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10 EXON Nonsense_R46X,Nonsense_R57X,Nonsense_R46X,Nonsense_R46X,Nonsense_R46X,Nonsense_R46X,Nonsense_R46X,Nonsense_R46X,Silent exm426774 4 146017185 [A/G] NM_001256712,NM_001256709,NM_001256710,NM_001256707,NM_001256706,NM_001256711,NM_001256708,NM_014885,NR_046345 ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10,ANAPC10 EXON Missense_R23W,Missense_R34W,Missense_R23W,Missense_R23W,Missense_R23W,Missense_R23W,Missense_R23W,Missense_R23W,Silent rs34766684 4 146023924 [T/C] NM_001040876,NM_002940 ABCE1,ABCE1 Silent,Silent exm426780 4 146030401 [T/C] NM_001040876,NM_002940 ABCE1,ABCE1 EXON Synonymous_D135D,Synonymous_D135D exm426814 4 146044410 [T/C] NM_001040876,NM_002940 ABCE1,ABCE1 EXON Missense_A473V,Missense_A473V exm2256390 4 146058732 [T/C] NM_001102653 OTUD4 EXON Synonymous_Q1000Q exm426875 4 146059787 [T/C] NM_001102653 OTUD4 EXON Missense_M649V exm426881 4 146062572 [T/G] NM_001102653 OTUD4 EXON Missense_P616Q exm426887 4 146062682 [T/C] NM_001102653 OTUD4 EXON Missense_I579M exm426896 4 146063471 [T/C] NM_001102653 OTUD4 EXON Missense_V502M exm426899 4 146064547 [A/C] NM_001102653 OTUD4 EXON Missense_K486N exm426908 4 146065573 [T/C] NM_001102653 OTUD4 EXON Missense_N414S var_4_146067419 4 146067419 [A/G] NM_001102653 OTUD4 EXON Synonymous_S409S exm426914 4 146071670 [C/G] NM_001102653 OTUD4 EXON Missense_I353M exm2066869 4 146071687 [A/G] NM_001102653 OTUD4 EXON Missense_R348W exm426915 4 146071731 [A/C] NM_001102653 OTUD4 EXON Missense_G333V exm426925 4 146073711 [A/G] NM_001102653 OTUD4 EXON Missense_V252A exm426936 4 146077132 [T/C] NM_001102653 OTUD4 EXON Missense_A151T rs11734405 4 146081096 [T/C] NM_001102653,NM_017493 OTUD4,OTUD4 Silent,Silent kgp5364637 4 146084171 [A/G] NM_001102653,NM_017493 OTUD4,OTUD4 Silent,Silent rs3775801 4 146084427 [A/C] NM_001102653,NM_017493 OTUD4,OTUD4 Silent,Silent rs11736535 4 146139896 [A/G] rs6844904 4 146167657 [A/G] rs10013728 4 146173197 [T/C] rs11100872 4 146184565 [A/G] rs6833910 4 146193967 [T/C] rs17019992 4 146197201 [A/G] rs10006257 4 146205494 [T/C] exm2265878 4 146218651 [A/G] rs4373182 4 146220802 [T/G] rs2705575 4 146226787 [A/G] rs11728665 4 146232373 [T/C] rs28606996 4 146243587 [A/C] rs6537340 4 146249655 [A/G] rs7668650 4 146260382 [T/C] rs12513059 4 146285738 [T/G] rs479884 4 146306977 [A/G] rs17728991 4 146309232 [T/C] rs10016954 4 146314357 [T/C] rs1444086 4 146314863 [T/G] rs7674130 4 146315063 [A/G] rs13113847 4 146347867 [T/C] rs9684285 4 146350184 [T/C] rs499629 4 146358876 [A/G] rs6537355 4 146402592 [A/G] rs6816306 4 146407524 [A/G] NM_005900,NM_001003688 SMAD1,SMAD1 Silent,Silent rs11944685 4 146414267 [A/G] NM_005900,NM_001003688 SMAD1,SMAD1 Silent,Silent rs11100883 4 146450970 [A/G] NM_005900,NM_001003688 SMAD1,SMAD1 Silent,Silent exm426962 4 146460994 [A/C] NM_005900,NM_001003688 SMAD1,SMAD1 EXON Missense_N147H,Missense_N147H rs3756021 4 146461534 [T/C] NM_005900,NM_001003688 SMAD1,SMAD1 Silent,Silent rs7662543 4 146464773 [T/C] NM_005900,NM_001003688 SMAD1,SMAD1 Silent,Silent exm426975 4 146467921 [A/G] NM_005900,NM_001003688 SMAD1,SMAD1 EXON Missense_N281S,Missense_N281S variant.82945 4 146474934 [A/G] NM_005900,NM_001003688 SMAD1,SMAD1 Silent,Silent exm426983 4 146475023 [A/G] NM_005900,NM_001003688 SMAD1,SMAD1 EXON Missense_Y362C,Missense_Y362C rs6848760 4 146484997 [A/C] rs11939979 4 146488327 [A/C] rs6842568 4 146501892 [A/G] rs1874572 4 146509970 [T/G] exm2269860 4 146524560 [T/G] rs1497125 4 146539630 [T/C] rs1390981 4 146546701 [A/G] NM_172250 MMAA Silent exm427011 4 146560560 [A/T] NM_172250 MMAA EXON Missense_Y90F exm427016 4 146560724 [T/C] NM_172250 MMAA EXON Nonsense_R145X exm427021 4 146567162 [A/G] NM_172250 MMAA EXON Missense_R196Q rs17014946 4 146567584 [T/G] NM_172250 MMAA Silent exm427038 4 146572241 [T/C] NM_172250 MMAA EXON Missense_A254V var_4_146575151 4 146575151 [I/D] NM_172250 MMAA EXON exm427049 4 146576332 [T/A] NM_172250 MMAA EXON Missense_I335F exm427053 4 146576418 [G/C] NM_172250 MMAA EXON Missense_Q363H indel.82949 4 146576443 [D/I] NM_172250 MMAA EXON exm427055 4 146576506 [A/G] NM_172250 MMAA EXON Missense_E393K rs9308191 4 146586214 [A/G] rs6831899 4 146589780 [T/C] rs7688920 4 146592982 [T/G] rs17744367 4 146595347 [A/C] rs17020528 4 146601349 [T/C] exm427068 4 146601405 [T/C] NM_001080531 C4orf51 EXON Missense_P17L 1KG_4_146601514 4 146601514 [I/D] NM_001080531 C4orf51 EXON exm2066922 4 146601524 [A/C] NM_001080531 C4orf51 EXON Missense_L57M exm427075 4 146601588 [A/G] NM_001080531 C4orf51 EXON Missense_Q78R rs7682360 4 146601701 [A/G] NM_001080531 C4orf51 Silent rs7678910 4 146603460 [T/C] NM_001080531 C4orf51 Silent rs2132778 4 146614073 [T/C] NM_001080531 C4orf51 Silent rs10084798 4 146628662 [T/G] NM_001080531 C4orf51 Silent rs6818284 4 146639208 [A/G] NM_001080531 C4orf51 Silent rs9997749 4 146642017 [T/C] NM_001080531 C4orf51 Silent exm427078 4 146648084 [A/G] NM_001080531 C4orf51 EXON Missense_R110K exm427083 4 146650355 [T/C] NM_001080531 C4orf51 EXON Missense_P134L indel.82953 4 146653605 [I/D] NM_001080531 C4orf51 EXON exm427090 4 146653620 [A/G] NM_001080531 C4orf51 EXON Missense_D173N exm427091 4 146653623 [T/G] NM_001080531 C4orf51 EXON Missense_S174A rs6841736 4 146656795 [A/G] rs11934305 4 146663390 [T/C] rs11939704 4 146685889 [A/G] NM_178835 ZNF827 Silent exm427107 4 146686863 [A/G] NM_178835 ZNF827 EXON Missense_S963L exm427109 4 146695659 [T/C] NM_178835 ZNF827 EXON Synonymous_T953T exm427113 4 146695703 [T/C] NM_178835 ZNF827 EXON Missense_M939V exm427114 4 146695709 [T/C] NM_178835 ZNF827 EXON Missense_V937I exm427119 4 146696987 [T/C] NM_178835 ZNF827 EXON Missense_V883I exm427127 4 146700537 [A/G] NM_178835 ZNF827 EXON Missense_S837L exm427130 4 146700568 [T/C] NM_178835 ZNF827 EXON Missense_G827S rs4521364 4 146709412 [A/G] NM_178835 ZNF827 Silent exm427135 4 146744585 [A/C] NM_178835 ZNF827 EXON Missense_I791R exm427138 4 146744601 [T/C] NM_178835 ZNF827 EXON Missense_V786M exm427142 4 146744646 [A/G] NM_178835 ZNF827 EXON Missense_S771P rs13149290 4 146750966 [T/C] NM_178835 ZNF827 Silent rs17020677 4 146752366 [A/G] NM_178835 ZNF827 Silent rs988163 4 146764883 [T/C] NM_178835 ZNF827 Silent rs4544728 4 146768394 [T/C] NM_178835 ZNF827 Silent exm427149 4 146770563 [A/G] NM_178835 ZNF827 EXON Missense_M711T exm427154 4 146770704 [T/A] NM_178835 ZNF827 EXON Missense_Y664F rs17303543 4 146775428 [T/C] NM_178835 ZNF827 Silent rs6821030 4 146781717 [A/C] NM_178835 ZNF827 Silent rs4835261 4 146781747 [T/C] NM_178835 ZNF827 Silent exm427157 4 146791444 [T/C] NM_178835 ZNF827 EXON Missense_R645Q exm427163 4 146791487 [C/G] NM_178835 ZNF827 EXON Missense_D631H exm427169 4 146791556 [T/C] NM_178835 ZNF827 EXON Missense_T608A rs4547811 4 146794621 [T/C] NM_178835 ZNF827 Silent rs17020769 4 146800922 [T/C] NM_178835 ZNF827 Silent exm427185 4 146807082 [T/C] NM_178835 ZNF827 EXON Missense_G499R exm2066960 4 146813551 [A/G] NM_178835 ZNF827 EXON Synonymous_S370S rs9790707 4 146818215 [T/G] NM_178835 ZNF827 Silent rs4835265 4 146821410 [A/C] NM_178835 ZNF827 Silent exm427199 4 146823389 [T/G] NM_178835 ZNF827 EXON Missense_P341Q exm427205 4 146823598 [G/C] NM_178835 ZNF827 EXON Missense_H271Q exm427207 4 146823734 [T/C] NM_178835 ZNF827 EXON Missense_K226R exm427216 4 146823939 [A/G] NM_178835 ZNF827 EXON Missense_P158S exm427225 4 146824064 [T/C] NM_178835 ZNF827 EXON Missense_N116S exm427230 4 146824205 [A/G] NM_178835 ZNF827 EXON Missense_T69I exm427234 4 146824292 [A/G] NM_178835 ZNF827 EXON Missense_P40L exm427239 4 146824359 [T/C] NM_178835 ZNF827 EXON Missense_R18G rs1567224 4 146840077 [T/C] NM_178835 ZNF827 Silent rs2048161 4 146853165 [A/G] NM_178835 ZNF827 Silent rs9996164 4 146862215 [T/C] rs6537382 4 146867376 [A/C] rs6537383 4 146870683 [A/G] exm2269977 4 146870765 [T/G] rs7698461 4 146883385 [A/G] rs9968429 4 146890261 [A/G] rs7657882 4 146893493 [A/G] rs1579388 4 146894530 [T/C] rs7660035 4 146901801 [T/C] rs719091 4 146903211 [A/G] rs11100904 4 146904304 [T/C] rs10434119 4 146932089 [T/C] rs6537391 4 146933473 [A/C] rs4835275 4 146945603 [T/C] rs17020895 4 146948669 [A/C] rs17020919 4 146958602 [T/C] rs13125215 4 146961679 [T/C] rs9991712 4 146968904 [A/G] rs13142208 4 146974543 [T/C] rs12642634 4 146985627 [A/G] rs6845844 4 146994618 [A/G] rs2241521 4 146999111 [A/C] rs6821225 4 147002718 [T/C] rs10012073 4 147015936 [A/G] rs4835030 4 147028405 [A/G] rs11722991 4 147037235 [T/C] NR_038331 LOC100505545 Silent rs11721815 4 147042373 [A/G] NR_038331 LOC100505545 Silent rs6841228 4 147071801 [A/C] rs17021150 4 147081338 [A/G] rs7356451 4 147090211 [A/G] rs6815527 4 147097293 [T/C] NM_007080 LSM6 Silent rs6821444 4 147127987 [T/C] rs12374409 4 147135668 [T/C] rs874851 4 147163132 [A/G] rs11729554 4 147168885 [T/C] rs13122077 4 147171388 [A/C] exm427253 4 147179909 [T/C] NM_001029998 SLC10A7 EXON Missense_A310T rs2356940 4 147180527 [A/G] NM_001029998 SLC10A7 Silent rs1960018 4 147198667 [T/C] NM_001029998 SLC10A7 Silent exm427260 4 147215092 [T/C] NM_001029998 SLC10A7 EXON Missense_I237M exm427262 4 147215100 [A/C] NM_001029998 SLC10A7 EXON Missense_V235F exm427266 4 147215141 [A/G] NM_001029998 SLC10A7 EXON Missense_T221M exm427267 4 147215190 [T/C] NM_001029998 SLC10A7 EXON Missense_I205V rs9784489 4 147216213 [T/G] NM_001029998 SLC10A7 Silent rs17021355 4 147217867 [T/G] NM_001029998 SLC10A7 Silent rs2101345 4 147221103 [T/C] NM_001029998 SLC10A7 Silent exm2265770 4 147246721 [A/G] NM_001029998 SLC10A7 Silent exm427270 4 147247142 [T/C] NM_001029998 SLC10A7 EXON Missense_V148I rs9991483 4 147252599 [T/C] NM_001029998 SLC10A7 Silent rs4835297 4 147260476 [A/G] NM_001029998 SLC10A7 Silent rs6828612 4 147269334 [T/C] NM_001029998 SLC10A7 Silent rs2679144 4 147295128 [A/G] NM_001029998 SLC10A7 Silent rs6826676 4 147323331 [A/C] NM_001029998 SLC10A7 Silent rs2679141 4 147325925 [A/G] NM_001029998 SLC10A7 Silent rs6858794 4 147326974 [T/G] NM_001029998 SLC10A7 Silent rs6537420 4 147370156 [T/G] NM_001029998,NM_032128 SLC10A7,SLC10A7 Silent,Silent rs11944523 4 147374979 [A/G] NM_001029998,NM_032128 SLC10A7,SLC10A7 Silent,Silent rs7663212 4 147376576 [A/G] NM_001029998,NM_032128 SLC10A7,SLC10A7 Silent,Silent rs12711436 4 147412986 [A/G] NM_001029998,NM_032128 SLC10A7,SLC10A7 Silent,Silent rs4835040 4 147424678 [T/C] NM_001029998,NM_032128 SLC10A7,SLC10A7 Silent,Silent rs6849958 4 147426105 [T/C] NM_001029998,NM_032128 SLC10A7,SLC10A7 Silent,Silent rs13152024 4 147429316 [A/G] NM_001029998,NM_032128 SLC10A7,SLC10A7 Silent,Silent variant.82959 4 147431202 [T/C] NM_001029998,NM_032128 SLC10A7,SLC10A7 Silent,Silent exm427289 4 147442852 [T/G] NM_001029998,NM_032128 SLC10A7,SLC10A7 EXON Missense_R6S,Missense_R6S rs2884092 4 147447028 [T/C] rs4835042 4 147464245 [A/C] rs1504355 4 147469133 [T/G] rs9996620 4 147473314 [A/G] rs1504359 4 147495449 [T/C] rs10005397 4 147505431 [T/C] rs7680105 4 147507651 [A/G] rs970674 4 147551074 [A/G] rs9994157 4 147551241 [T/C] exm427297 4 147560411 [T/C] NM_004575 POU4F2 EXON Missense_I40T exm427318 4 147561147 [A/C] NM_004575 POU4F2 EXON Missense_D139E exm427319 4 147561148 [A/G] NM_004575 POU4F2 EXON Missense_A140T exm427374 4 147561856 [A/G] NM_004575 POU4F2 EXON Missense_A376T exm427375 4 147561891 [A/C] NM_004575 POU4F2 EXON Missense_N387K rs6839406 4 147582941 [T/C] rs1504353 4 147610480 [A/G] exm427384 4 147628656 [A/G] NM_031956 TTC29 EXON Missense_R460C exm427386 4 147628692 [T/C] NM_031956 TTC29 EXON Missense_G448R rs1394272 4 147633134 [A/C] NM_031956 TTC29 Silent rs1504354 4 147636699 [A/G] NM_031956 TTC29 Silent rs4476620 4 147648358 [T/C] NM_031956 TTC29 Silent rs10027612 4 147658082 [T/C] NM_031956 TTC29 Silent rs1509331 4 147665728 [A/G] NM_031956 TTC29 Silent rs7671336 4 147666797 [A/C] NM_031956 TTC29 Silent rs952639 4 147701619 [A/G] NM_031956 TTC29 Silent indel.82966 4 147724720 [D/I] NM_031956 TTC29 EXON exm2067017 4 147724769 [T/C] NM_031956 TTC29 EXON Missense_M390I rs12504096 4 147734508 [A/G] NM_031956 TTC29 Silent exm427400 4 147754995 [T/C] NM_031956 TTC29 EXON Missense_G314R exm427401 4 147755012 [A/T] NM_031956 TTC29 EXON Missense_D308V var_4_147755051 4 147755051 [T/C] NM_031956 TTC29 Silent rs12507364 4 147785578 [T/C] NM_031956 TTC29 Silent rs10013280 4 147788709 [T/C] NM_031956 TTC29 EXON Missense_A276T exm427404 4 147788709 [T/C] NM_031956 TTC29 EXON Missense_A276T indel.82969 4 147788723 [I/D] NM_031956 TTC29 EXON exm427408 4 147795873 [T/C] NM_031956 TTC29 EXON Missense_K265R exm427410 4 147795903 [T/C] NM_031956 TTC29 EXON Missense_K255R exm427417 4 147796023 [T/C] NM_031956 TTC29 EXON Missense_R215Q exm427418 4 147796024 [A/G] NM_031956 TTC29 EXON Missense_R215W rs10001365 4 147797214 [A/G] NM_031956 TTC29 Silent rs7656258 4 147809311 [A/G] NM_031956 TTC29 Silent rs984696 4 147820477 [T/C] NM_031956 TTC29 Silent variant.82970 4 147824789 [A/G] NM_031956 TTC29 EXON Nonsense_R165X exm427423 4 147824864 [A/G] NM_031956 TTC29 EXON Missense_H140Y rs17610219 4 147824864 [A/G] NM_031956 TTC29 EXON Missense_H140Y exm2269861 4 147825919 [T/C] NM_031956 TTC29 Silent indel.82971 4 147830244 [D/I] NM_031956 TTC29 EXON exm427427 4 147830310 [A/G] NM_031956 TTC29 EXON Missense_R90W exm427428 4 147830322 [G/C] NM_031956 TTC29 EXON Missense_A86P exm2067037 4 147830349 [A/G] NM_031956 TTC29 EXON Missense_Y77H indel.82972 4 147830357 [D/I] NM_031956 TTC29 EXON rs13122121 4 147834758 [T/C] NM_031956 TTC29 Silent rs17022118 4 147839631 [A/G] NM_031956 TTC29 Silent rs1509333 4 147850007 [T/C] NM_031956 TTC29 Silent exm427432 4 147858745 [T/C] NM_031956 TTC29 Silent newrs59050226 4 147860951 [T/C] NM_031956 TTC29 Silent exm427437 4 147860980 [A/G] NM_031956 TTC29 EXON Missense_P23L exm427438 4 147861011 [A/T] NM_031956 TTC29 EXON Nonsense_K13X rs3827595 4 147867307 [T/C] rs7663340 4 147897673 [T/C] rs1347655 4 147905897 [T/C] rs9918010 4 147908124 [A/G] rs17022256 4 147919958 [T/C] rs974278 4 147925900 [T/C] rs6813768 4 147941013 [A/G] rs1370300 4 147941480 [A/G] rs7665036 4 147945451 [T/C] rs10019569 4 147946604 [T/C] rs1561223 4 147964863 [A/G] rs10008795 4 147970022 [A/G] rs10446782 4 147972073 [T/C] rs4835367 4 147983095 [A/G] rs10034640 4 147994381 [A/G] rs4383597 4 148005660 [A/G] rs1979956 4 148012476 [A/G] rs17022582 4 148017820 [A/G] rs1911588 4 148021144 [T/C] exm2265771 4 148023829 [A/G] rs4543091 4 148025559 [T/C] exm2265879 4 148029669 [A/G] rs7677110 4 148039230 [A/G] rs4835378 4 148040980 [T/G] exm-rs1395821 4 148047550 [T/C] rs4485803 4 148051452 [A/G] rs2357604 4 148077418 [T/C] rs952688 4 148081634 [T/C] rs4399964 4 148084305 [A/G] rs4835382 4 148131784 [T/C] rs7658280 4 148171265 [T/G] rs4835074 4 148174084 [T/G] rs4835075 4 148175011 [A/G] rs2714886 4 148229316 [A/G] rs2163012 4 148268027 [A/G] rs4835078 4 148277011 [A/G] exm-rs1429141 4 148288067 [T/C] rs1429142 4 148289389 [T/C] rs11936867 4 148306058 [A/G] rs7671190 4 148318048 [A/C] rs1429107 4 148322387 [A/G] rs17023204 4 148329646 [T/C] rs1429115 4 148337747 [A/G] rs1594085 4 148349756 [A/G] rs10026914 4 148375008 [A/C] rs9999944 4 148376995 [A/C] rs1400558 4 148380805 [T/C] rs6537478 4 148385094 [T/C] rs1878406 4 148393664 [T/C] exm427449 4 148407089 [A/G] NR_045958,NM_001957,NM_001166055,NM_001256283 EDNRA,EDNRA,EDNRA,EDNRA EXON Silent,Missense_I86V,Missense_I86V,Silent rs1996374 4 148413483 [A/G] NR_045958,NM_001957,NM_001166055,NM_001256283 EDNRA,EDNRA,EDNRA,EDNRA Silent,Silent,Silent,Silent rs17612742 4 148414651 [T/C] NR_045958,NM_001957,NM_001166055,NM_001256283 EDNRA,EDNRA,EDNRA,EDNRA Silent,Silent,Silent,Silent rs10305895 4 148434688 [A/G] NR_045958,NM_001957,NM_001166055,NM_001256283 EDNRA,EDNRA,EDNRA,EDNRA Silent,Silent,Silent,Silent rs9999853 4 148436871 [T/C] NR_045958,NM_001957,NM_001166055,NM_001256283 EDNRA,EDNRA,EDNRA,EDNRA Silent,Silent,Silent,Silent newrs10305900 4 148441569 [T/G] NR_045958,NM_001957,NM_001166055,NM_001256283 EDNRA,EDNRA,EDNRA,EDNRA Silent,Silent,Silent,Silent rs5334 4 148461073 [A/G] NR_045958,NM_001957,NM_001166055,NM_001256283 EDNRA,EDNRA,EDNRA,EDNRA EXON Silent,Synonymous_E335E,Synonymous_E226E,Synonymous_E110E exm427469 4 148463745 [C/G] NR_045958,NM_001957,NM_001166055,NM_001256283 EDNRA,EDNRA,EDNRA,EDNRA EXON Silent,Missense_S420T,Missense_S311T,Missense_S195T rs5343 4 148464992 [T/C] NR_045958,NM_001957,NM_001166055,NM_001256283 EDNRA,EDNRA,EDNRA,EDNRA EXON Silent,Silent,Silent,Silent rs17613180 4 148486299 [A/G] rs2090422 4 148488545 [T/C] rs7675774 4 148503298 [A/G] rs4835088 4 148509519 [A/G] rs10028794 4 148510474 [T/C] rs2654937 4 148554421 [T/C] NM_018241 TMEM184C Silent exm427489 4 148555511 [A/G] NM_018241 TMEM184C EXON Missense_K415E newrs146128578 4 148555523 [T/G] NM_018241 TMEM184C EXON Nonsense_E419X exm427494 4 148559696 [A/G] NM_138364 PRMT10 EXON Missense_T842I exm427501 4 148559892 [T/C] NM_138364 PRMT10 EXON Missense_V777I exm427502 4 148559898 [T/C] NM_138364 PRMT10 EXON Missense_V775I variant.82984 4 148560110 [T/C] NM_138364 PRMT10 Silent exm427504 4 148560193 [T/C] NM_138364 PRMT10 EXON Missense_C747Y exm427505 4 148560197 [A/G] NM_138364 PRMT10 EXON Missense_P746S exm2067085 4 148560202 [A/G] NM_138364 PRMT10 EXON Missense_S744L exm427514 4 148563982 [A/G] NM_138364 PRMT10 EXON Missense_R719C exm427517 4 148564030 [G/C] NM_138364 PRMT10 EXON Missense_V703L exm427520 4 148575026 [T/C] NM_138364 PRMT10 EXON Missense_I674M exm2067090 4 148575258 [A/G] NM_138364 PRMT10 EXON Missense_I597T exm427528 4 148575268 [G/C] NM_138364 PRMT10 EXON Missense_L594V exm427545 4 148575639 [T/C] NM_138364 PRMT10 EXON Missense_S470N exm427546 4 148575648 [T/C] NM_138364 PRMT10 EXON Missense_Q467R exm427548 4 148575705 [T/C] NM_138364 PRMT10 EXON Missense_K448R newrs142189908 4 148578955 [A/G] NM_138364 PRMT10 EXON Nonsense_Q440X exm427556 4 148579111 [T/C] NM_138364 PRMT10 EXON Missense_A388T variant.82988 4 148582068 [A/G] NM_138364 PRMT10 EXON Nonsense_R359X exm2256396 4 148582090 [A/C] NM_138364 PRMT10 EXON Synonymous_P351P exm427561 4 148582130 [A/G] NM_138364 PRMT10 EXON Missense_P338L exm427562 4 148582152 [T/C] NM_138364 PRMT10 EXON Missense_T331A exm427572 4 148589711 [A/G] NM_138364 PRMT10 EXON Missense_A311V exm427573 4 148589774 [T/C] NM_138364 PRMT10 EXON Missense_C290Y exm427574 4 148589786 [T/C] NM_138364 PRMT10 EXON Missense_E286G exm427580 4 148591825 [A/C] NM_138364 PRMT10 EXON Missense_I271M indel.82990 4 148594157 [I/D] NM_138364 PRMT10 EXON exm427589 4 148594177 [T/C] NM_138364 PRMT10 EXON Missense_E226K exm427592 4 148594255 [T/C] NM_138364 PRMT10 EXON Missense_A200T exm427595 4 148594810 [T/C] NM_138364 PRMT10 EXON Missense_G185E exm427600 4 148601481 [G/C] NM_138364 PRMT10 EXON Missense_L111V variant.82991 4 148601542 [A/C] NM_138364 PRMT10 EXON Nonsense_Y90X exm2240522 4 148605078 [A/G] NM_138364 PRMT10 EXON Missense_R21W rs4835446 4 148631527 [A/G] exm427624 4 148653570 [A/G] NM_024605 ARHGAP10 EXON Missense_I40V rs6535561 4 148694658 [T/C] NM_024605 ARHGAP10 Silent rs6837391 4 148722083 [A/G] NM_024605 ARHGAP10 Silent rs893023 4 148752359 [A/G] NM_024605 ARHGAP10 Silent rs9996108 4 148753310 [A/G] NM_024605 ARHGAP10 Silent rs10461235 4 148760097 [A/G] NM_024605 ARHGAP10 Silent exm2269978 4 148763687 [T/C] NM_024605 ARHGAP10 Silent indel.82992 4 148768326 [I/D] NM_024605 ARHGAP10 EXON exm427642 4 148778794 [T/C] NM_024605 ARHGAP10 EXON Missense_H159Y rs1013842 4 148783402 [A/G] NM_024605 ARHGAP10 Silent exm427648 4 148787905 [A/G] NM_024605 ARHGAP10 EXON Missense_G214S exm427649 4 148787930 [A/G] NM_024605 ARHGAP10 EXON Missense_N222S exm427650 4 148787942 [T/C] NM_024605 ARHGAP10 EXON Missense_M226T rs12331562 4 148789141 [A/G] NM_024605 ARHGAP10 Silent rs2118034 4 148790648 [A/G] NM_024605 ARHGAP10 Silent variant.82995 4 148796253 [T/C] NM_024605 ARHGAP10 EXON Nonsense_R262X newrs150075964 4 148800491 [T/G] NM_024605 ARHGAP10 Silent variant.82997 4 148803083 [A/G] NM_024605 ARHGAP10 EXON Missense_R345Q rs17676080 4 148815028 [T/C] NM_024605 ARHGAP10 Silent exm2067141 4 148827791 [A/C] NM_024605 ARHGAP10 EXON Missense_P346H exm427678 4 148827850 [A/G] NM_024605 ARHGAP10 EXON Missense_A366T rs12643550 4 148828922 [A/C] NM_024605 ARHGAP10 Silent exm427681 4 148834245 [A/G] NM_024605 ARHGAP10 EXON Missense_G395R rs7655265 4 148838054 [A/C] NM_024605 ARHGAP10 Silent rs4027115 4 148839717 [A/G] NM_024605 ARHGAP10 Silent rs4835111 4 148848283 [T/G] NM_024605 ARHGAP10 Silent rs17024201 4 148879583 [T/C] NM_024605 ARHGAP10 Silent rs7658486 4 148884189 [T/C] NM_024605 ARHGAP10 Silent exm427701 4 148886191 [A/C] NM_024605 ARHGAP10 EXON Missense_E489D exm2067152 4 148886205 [T/C] NM_024605 ARHGAP10 EXON Missense_A494V exm2274050 4 148886241 [A/G] NM_024605 ARHGAP10 EXON Missense_N506S exm427708 4 148887925 [A/G] NM_024605 ARHGAP10 EXON Missense_A551T rs17024235 4 148891027 [T/C] NM_024605 ARHGAP10 Silent rs9684012 4 148897030 [T/C] NM_024605 ARHGAP10 Silent rs10519933 4 148916437 [A/G] NM_024605 ARHGAP10 Silent rs6815554 4 148938598 [A/C] NM_024605 ARHGAP10 Silent rs9991394 4 148940093 [T/C] NM_024605 ARHGAP10 Silent exm427715 4 148944427 [T/C] NM_024605 ARHGAP10 EXON Missense_P577L exm2274051 4 148944435 [A/G] NM_024605 ARHGAP10 EXON Missense_T580A exm427716 4 148944438 [A/G] NM_024605 ARHGAP10 EXON Missense_T581A exm427721 4 148944496 [T/C] NM_024605 ARHGAP10 EXON Missense_S600L exm427725 4 148944560 [A/C] NM_024605 ARHGAP10 EXON Missense_E621D rs6839459 4 148952982 [A/G] NM_024605 ARHGAP10 Silent exm427727 4 148968049 [A/G] NM_024605 ARHGAP10 EXON Missense_N625S exm427731 4 148968114 [A/G] NM_024605 ARHGAP10 EXON Missense_V647M exm427732 4 148968149 [G/C] NM_024605 ARHGAP10 EXON Missense_D658E exm427733 4 148968172 [A/G] NM_024605 ARHGAP10 EXON Missense_G666E exm427736 4 148968201 [A/G] NM_024605 ARHGAP10 EXON Missense_I676V exm-rs6845865 4 148974602 [T/C] NM_024605 ARHGAP10 Silent exm427742 4 148984321 [A/G] NM_024605 ARHGAP10 EXON Missense_M684V exm2256397 4 148984341 [A/C] NM_024605 ARHGAP10 EXON Synonymous_P690P exm427743 4 148984341 [A/C] NM_024605 ARHGAP10 EXON Synonymous_P690P exm427746 4 148984378 [A/G] NM_024605 ARHGAP10 EXON Missense_T703A exm427753 4 148985578 [A/G] NM_024605 ARHGAP10 EXON Missense_R731Q exm427756 4 148985592 [A/G] NM_024605 ARHGAP10 EXON Missense_V736M rs12650033 4 148987187 [A/G] NM_024605 ARHGAP10 Silent rs7660368 4 148987972 [T/C] NM_024605 ARHGAP10 Silent indel.83002 4 148993176 [D/I] NM_024605 ARHGAP10 EXON rs11933380 4 148997402 [T/C] rs2871 4 149000024 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Silent,Silent rs5534 4 149001085 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Silent,Silent rs6840127 4 149018311 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs17024387 4 149024260 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs1879827 4 149025406 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent variant.83003 4 149035255 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Synonymous_D816D,Synonymous_D933D exm427772 4 149035319 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_N795S,Missense_N912S rs1879829 4 149035449 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent exm427775 4 149041372 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_V743I,Missense_V860I rs1403143 4 149042334 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs6857011 4 149055437 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs11736161 4 149063275 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent exm2256398 4 149063523 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs12651282 4 149064158 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent exm427781 4 149075755 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Silent,Missense_R771H var_4_149075831 4 149075831 [A/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Silent,Nonsense_E746X rs6844155 4 149081621 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs6856803 4 149087127 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs4835490 4 149090326 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs17024456 4 149100252 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs11099681 4 149103454 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs3910054 4 149116534 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs3846306 4 149131264 [T/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs6535594 4 149132756 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs12641471 4 149139764 [A/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs17484063 4 149164905 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs3846317 4 149165351 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs3846321 4 149166943 [A/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs6855341 4 149183374 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs6836191 4 149188327 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs6812904 4 149196991 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs17484454 4 149209008 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs13147775 4 149215821 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs2883929 4 149221110 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs3846329 4 149229338 [T/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs6828378 4 149247040 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs6826213 4 149251850 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs3920217 4 149254723 [T/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs1546531 4 149264255 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs2137335 4 149265166 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs10034789 4 149265483 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs13109808 4 149291532 [A/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs10519963 4 149297675 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs17581884 4 149299071 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs11725509 4 149311728 [A/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent exm-rs1490453 4 149321346 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs1994624 4 149330922 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs7698307 4 149332071 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs17024708 4 149340536 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs4635799 4 149350527 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent exm427804 4 149356308 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_R569G,Missense_R569G exm427808 4 149356352 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_N554S,Missense_N554S exm427822 4 149356682 [T/G] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_N444T,Missense_N444T exm427836 4 149357115 [C/G] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_P300A,Missense_P300A exm427840 4 149357246 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_N256S,Missense_N256S exm427849 4 149357475 [T/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_V180I,Missense_V180I exm427866 4 149357910 [G/C] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Missense_E35Q,Missense_E35Q newrs138833427 4 149357943 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 EXON Nonsense_Q24X,Nonsense_Q24X rs7658048 4 149362744 [A/G] NM_001166104,NM_000901 NR3C2,NR3C2 Silent,Silent rs6535611 4 149379537 [A/G] rs6535612 4 149384030 [T/C] rs1472061 4 149398778 [A/G] rs2200984 4 149435731 [T/C] rs875758 4 149447366 [A/G] rs13123270 4 149461969 [A/G] rs1032328 4 149463102 [T/C] rs902409 4 149463931 [T/C] rs4475130 4 149522696 [T/G] rs12644823 4 149525671 [T/C] rs12644824 4 149525713 [T/C] rs6838226 4 149554651 [A/G] rs17582787 4 149562638 [A/G] rs10452224 4 149570069 [A/G] exm-rs2358462 4 149570680 [T/C] rs7437928 4 149574788 [T/C] rs4365706 4 149594489 [A/G] rs6840553 4 149598573 [T/C] rs6840754 4 149598635 [T/G] rs17024901 4 149600181 [A/C] rs6826228 4 149605569 [A/G] exm-rs6826460 4 149605653 [A/G] exm2261630 4 149615561 [A/G] rs7674926 4 149619238 [A/G] rs10008892 4 149625757 [A/C] rs10519980 4 149635025 [T/C] rs7682301 4 149637571 [A/G] rs2358649 4 149641824 [A/C] rs7681551 4 149643143 [A/G] rs17025017 4 149650033 [A/G] rs11935941 4 149652478 [A/C] rs10028213 4 149652610 [C/G] rs7677940 4 149654577 [A/G] rs549653 4 149692497 [T/C] rs7667838 4 149705772 [T/C] rs578668 4 149709259 [T/C] rs2204206 4 149713872 [T/C] rs11099710 4 149742690 [A/G] rs471967 4 149744518 [T/C] exm2265773 4 149748096 [A/G] rs9307850 4 149762698 [T/C] rs853721 4 149765628 [T/C] rs862657 4 149771033 [T/C] rs17778070 4 149772371 [T/C] rs17025332 4 149773642 [A/G] rs1634070 4 149775941 [T/C] rs10003214 4 149794284 [T/C] rs886148 4 149802894 [A/G] rs2520496 4 149817052 [A/G] rs1010178 4 149832511 [T/C] rs12374234 4 149841708 [T/C] rs12233660 4 149846648 [T/C] rs17025520 4 149872845 [A/G] rs13129108 4 149894321 [T/G] rs724043 4 149901085 [T/G] rs17025566 4 149903982 [T/C] rs2520490 4 149911469 [A/G] rs7691878 4 149920515 [A/C] rs10001495 4 149936868 [A/G] rs6824983 4 149948850 [T/G] rs11946353 4 149954364 [T/C] rs6835961 4 149976613 [T/C] rs7673586 4 149979341 [A/G] rs10021342 4 150031952 [T/G] rs4522846 4 150070596 [T/C] rs6842668 4 150074544 [A/G] rs10222969 4 150103438 [T/G] rs13435568 4 150107863 [T/C] rs10520008 4 150122817 [T/C] rs1438765 4 150129861 [T/C] rs11721563 4 150156579 [A/C] rs580399 4 150178430 [A/G] rs3106916 4 150181884 [A/G] rs546978 4 150200706 [A/G] rs9307855 4 150205408 [A/C] exm2256400 4 150217461 [T/G] rs2359333 4 150253761 [T/C] rs6535675 4 150267639 [T/C] rs17624486 4 150280975 [T/C] rs8180206 4 150283932 [T/C] rs7653957 4 150288111 [A/G] kgp4913130 4 150298829 [T/C] kgp3438420 4 150304753 [T/C] rs13144096 4 150433523 [T/C] rs10019047 4 150459436 [T/C] rs11099736 4 150479466 [A/C] rs17625032 4 150480129 [T/C] rs1503697 4 150486553 [A/G] exm2265774 4 150554591 [A/G] rs6814124 4 150554591 [A/G] rs7686111 4 150567397 [T/G] rs17625203 4 150576943 [T/C] rs7684095 4 150646588 [A/G] rs17502597 4 150655652 [A/G] rs1394050 4 150659552 [T/C] rs10021126 4 150678416 [A/C] rs1394843 4 150684793 [T/C] rs17631073 4 150688687 [A/G] rs1876069 4 150711342 [T/C] rs1566801 4 150712561 [A/G] exm2265881 4 150712923 [A/G] rs17026442 4 150714094 [T/C] rs11936885 4 150741301 [T/C] rs6849686 4 150756808 [T/G] rs17631265 4 150766017 [T/C] rs10008520 4 150792331 [T/C] rs7655916 4 150798489 [T/C] rs10032726 4 150805096 [A/G] rs17687953 4 150831292 [A/G] rs4835604 4 150844720 [T/C] rs6811032 4 150850281 [A/G] rs2359925 4 150852139 [A/G] rs905900 4 150852782 [A/G] rs11726953 4 150856693 [T/C] rs4493520 4 150878634 [T/G] rs10002187 4 150915414 [A/G] rs6535702 4 150919730 [T/C] rs4501203 4 150924437 [A/G] rs4317185 4 150946383 [A/G] rs6833562 4 150951692 [T/C] rs7655571 4 150955500 [T/C] rs4423856 4 150984857 [T/C] exm2265775 4 150990695 [A/G] rs4270569 4 150995468 [A/C] rs11099754 4 151005404 [T/G] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 Silent,Silent,Silent rs9307865 4 151005467 [A/G] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 Silent,Silent,Silent rs7667342 4 151050375 [A/G] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 Silent,Silent,Silent rs4438743 4 151053158 [T/C] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 Silent,Silent,Silent rs4240358 4 151070611 [A/G] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 Silent,Silent,Silent rs4240359 4 151082561 [A/G] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 Silent,Silent,Silent rs6535715 4 151101413 [A/G] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 Silent,Silent,Silent rs10520059 4 151103731 [T/C] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 Silent,Silent,Silent exm427902 4 151119160 [A/G] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 EXON Silent,Missense_R289H,Missense_R289H exm427906 4 151119237 [A/G] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 EXON Silent,Missense_S315G,Missense_S315G rs12374344 4 151126725 [T/C] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 Silent,Silent,Silent rs17631799 4 151133778 [T/C] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 Silent,Silent,Silent exm427910 4 151141870 [A/G] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 EXON Silent,Missense_G375S,Missense_G358S exm427918 4 151145697 [A/G] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 EXON Silent,Missense_K446R,Missense_K429R exm427924 4 151153916 [A/G] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 EXON Silent,Missense_N518S,Missense_N501S exm427927 4 151153945 [A/G] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 EXON Silent,Missense_I528V,Missense_I511V rs1459744 4 151157195 [T/C] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 Silent,Silent,Silent rs1459748 4 151158031 [T/C] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 Silent,Silent,Silent rs6535725 4 151158952 [A/G] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 Silent,Silent,Silent exm427928 4 151160918 [A/C] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 EXON Silent,Missense_K548Q,Missense_K531Q rs1531335 4 151166237 [T/C] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 Silent,Silent,Silent variant.83006 4 151168754 [A/G] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 Silent,Silent,Silent rs2359940 4 151168929 [A/G] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 Silent,Silent,Silent exm2240525 4 151170776 [C/G] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 EXON Silent,Missense_Q688H,Missense_Q671H exm427950 4 151177172 [A/C] NR_036614,NM_001040261,NM_001040260 DCLK2,DCLK2,DCLK2 EXON Silent,Missense_N709H,Missense_N692H exm427965 4 151186882 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R2850C,Missense_R2862C exm427966 4 151186906 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R2842W,Missense_R2854W newrs145690847 4 151186916 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Synonymous_N2838N,Synonymous_N2850N rs13134607 4 151190804 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm427972 4 151199033 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R2813W,Missense_R2825W exm427975 4 151199070 [G/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_K2800N,Missense_K2812N exm427976 4 151199080 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_S2797L,Missense_S2809L exm427979 4 151199155 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_A2772V,Missense_A2784V rs11099759 4 151202952 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm2274052 4 151203684 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_I2744T,Missense_I2756T rs11944163 4 151204693 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm427985 4 151207098 [G/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_L2701F,Missense_L2713F exm427988 4 151207127 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_A2692T,Missense_A2704T exm427994 4 151207180 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_T2674I,Missense_T2686I rs7657457 4 151210761 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs10007367 4 151214038 [T/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm428004 4 151223915 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_W2627R,Missense_W2638R rs1813134 4 151231371 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm428007 4 151231390 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_T2614A,Missense_T2625A exm428026 4 151242409 [T/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_T2522P,Missense_T2533P rs17588629 4 151252297 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent variant.83009 4 151271139 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs17588741 4 151271758 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs11945847 4 151272102 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs13136928 4 151275634 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs4458434 4 151275797 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm-rs6817572 4 151303318 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs6848343 4 151312761 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs11736546 4 151331191 [A/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm2067284 4 151356766 [A/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_S2339I,Missense_S2350I exm428046 4 151357876 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_I2307M,Missense_I2318M exm428049 4 151357910 [T/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_T2296N,Missense_T2307N exm428050 4 151357945 [T/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_Q2284H,Missense_Q2295H exm428054 4 151357970 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R2276H,Missense_R2287H rs7698239 4 151368816 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm2265776 4 151368816 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs11733926 4 151369107 [T/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs10471055 4 151372589 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs1875899 4 151385976 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm428060 4 151392781 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_I2221T,Missense_I2232T rs2036552 4 151397759 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs4696435 4 151399246 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs1504786 4 151406414 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent variant.83012 4 151408879 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs952225 4 151454015 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs7699621 4 151470988 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs12649589 4 151479467 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs17589398 4 151496759 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm2067299 4 151504191 [A/G] NM_001199282,NM_006726,NM_006439 LRBA,LRBA,MAB21L2 EXON Silent,Silent,Missense_A4T exm428079 4 151504381 [A/G] NM_001199282,NM_006726,NM_006439 LRBA,LRBA,MAB21L2 EXON Silent,Silent,Missense_E67G exm428085 4 151504638 [A/G] NM_001199282,NM_006726,NM_006439 LRBA,LRBA,MAB21L2 EXON Silent,Silent,Missense_A153T exm2275774 4 151509208 [C/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_D2108H,Missense_D2119H exm428113 4 151509316 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_P2072S,Missense_P2083S exm428115 4 151511866 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Synonymous_A2064A,Synonymous_A2075A exm428117 4 151511895 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_V2055M,Missense_V2066M rs4435730 4 151519232 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm428125 4 151520160 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Synonymous_H2015H,Synonymous_H2015H exm428128 4 151520216 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R1997C,Missense_R1997C exm428132 4 151520264 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R1981C,Missense_R1981C rs6847725 4 151547243 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm2269979 4 151574839 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs10026518 4 151588483 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm428135 4 151604793 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_Y1944C,Missense_Y1944C rs4455394 4 151625361 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs17027030 4 151637154 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs6535746 4 151637268 [A/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs7690485 4 151659605 [T/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs1451634 4 151665097 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent kgp9209869 4 151666257 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs1451635 4 151668526 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm428148 4 151719263 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Synonymous_V1850V,Synonymous_V1850V variant.83017 4 151727421 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs716473 4 151730224 [A/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm428162 4 151749354 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_V1717M,Missense_V1717M exm428166 4 151749473 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_N1677S,Missense_N1677S exm428167 4 151749477 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_V1676I,Missense_V1676I exm428168 4 151749491 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_S1671L,Missense_S1671L exm428176 4 151749602 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_P1634L,Missense_P1634L exm428178 4 151749648 [A/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_V1619L,Missense_V1619L rs186080 4 151765243 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm428206 4 151765814 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_A1486V,Missense_A1486V exm428220 4 151770138 [A/T] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_N1391Y,Missense_N1391Y exm428225 4 151770632 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_N1367S,Missense_N1367S exm428232 4 151771966 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R1305H,Missense_R1305H exm428234 4 151772006 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_V1292I,Missense_V1292I exm428236 4 151772021 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_I1287V,Missense_I1287V rs10012720 4 151772410 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm2274053 4 151773098 [G/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R1255T,Missense_R1255T exm428240 4 151773111 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_T1251A,Missense_T1251A exm428242 4 151773119 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_N1248S,Missense_N1248S exm428245 4 151773173 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_G1230D,Missense_G1230D exm428252 4 151773294 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_M1190V,Missense_M1190V exm428256 4 151773363 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_T1167A,Missense_T1167A exm428259 4 151773455 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_P1136L,Missense_P1136L exm428265 4 151773512 [A/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_G1117V,Missense_G1117V exm428266 4 151773531 [A/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_V1111L,Missense_V1111L exm428268 4 151773593 [G/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_A1090G,Missense_A1090G exm428269 4 151773600 [G/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_E1088Q,Missense_E1088Q exm428271 4 151773684 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_I1060V,Missense_I1060V exm428273 4 151773743 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_N1040S,Missense_N1040S exm2067367 4 151773798 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_E1022K,Missense_E1022K exm428287 4 151788915 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_A892T,Missense_A892T 1KG_4_151789436 4 151789436 [I/D] NM_001199282,NM_006726 LRBA,LRBA EXON rs2407549 4 151790540 [A/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm428302 4 151791682 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_N815S,Missense_N815S exm428311 4 151792589 [T/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_M759L,Missense_M759L exm428314 4 151793864 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_V737I,Missense_V737I exm428315 4 151793903 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_I724V,Missense_I724V rs17027158 4 151794207 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent indel.83021 4 151814239 [D/I] NM_001199282,NM_006726 LRBA,LRBA EXON exm428317 4 151814257 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_M704I,Missense_M704I var_4_151817593 4 151817593 [A/C] NM_001199282,NM_006726 LRBA,LRBA EXON Nonsense_E674X,Nonsense_E674X variant.83023 4 151818962 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Nonsense_R645X,Nonsense_R645X exm428332 4 151821354 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_Y591H,Missense_Y591H exm428333 4 151827013 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_I578V,Missense_I578V indel.83024 4 151827083 [D/I] NM_001199282,NM_006726 LRBA,LRBA EXON exm428341 4 151827510 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_A514V,Missense_A514V rs1201208 4 151829824 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Synonymous_A449A,Synonymous_A449A exm428360 4 151835483 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_K342R,Missense_K342R exm428361 4 151836824 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_R317Q,Missense_R317Q variant.83026 4 151837548 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm428367 4 151837660 [C/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_L263V,Missense_L263V exm428368 4 151837787 [A/T] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_D250V,Missense_D250V exm2240529 4 151842358 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_S213G,Missense_S213G rs9992474 4 151880765 [A/G] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent rs6839352 4 151887280 [T/C] NM_001199282,NM_006726 LRBA,LRBA Silent,Silent exm428390 4 151935601 [A/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_I65T,Missense_I65T exm2067409 4 151935622 [C/G] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_G58A,Missense_G58A exm428398 4 151935713 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_T28A,Missense_T28A exm428399 4 151935743 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_G18R,Missense_G18R exm428400 4 151935787 [T/C] NM_001199282,NM_006726 LRBA,LRBA EXON Missense_S3N,Missense_S3N rs4696648 4 151948111 [A/G] rs7697992 4 151998622 [T/G] rs12647989 4 152000891 [A/G] indel.83027 4 152043263 [D/I] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON indel.83028 4 152043339 [I/D] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON exm428438 4 152048801 [T/C] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_R719Q,Missense_R742Q,Missense_R719Q,Missense_R683Q exm428446 4 152049337 [T/C] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_V692M,Missense_V715M,Missense_V692M,Missense_V656M rs7659146 4 152053302 [A/G] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 Silent,Silent,Silent,Silent variant.83029 4 152053482 [A/C] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 Silent,Silent,Silent,Silent 1KG_4_152054191 4 152054191 [D/I] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON exm2067440 4 152054218 [T/A] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_E606V,Missense_E629V,Missense_E606V,Missense_E570V exm428452 4 152054221 [A/G] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_V605A,Missense_V628A,Missense_V605A,Missense_V569A var_4_152054264 4 152054264 [A/G] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Nonsense_R591X,Nonsense_R614X,Nonsense_R591X,Nonsense_R555X rs11938266 4 152055073 [T/C] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 Silent,Silent,Silent,Silent exm428459 4 152058913 [T/C] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_I520V,Missense_I543V,Missense_I520V,Missense_I484V variant.83031 4 152065061 [T/C] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 Silent,Silent,Silent,Silent exm2067445 4 152065120 [T/C] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_H442R,Missense_H465R,Missense_H442R,Missense_H406R exm428470 4 152065190 [A/G] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_L419F,Missense_L442F,Missense_L419F,Missense_L383F rs3736502 4 152065197 [T/C] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Synonymous_G416G,Synonymous_G439G,Synonymous_G416G,Synonymous_G380G exm428473 4 152065201 [T/C] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_R415H,Missense_R438H,Missense_R415H,Missense_R379H exm428474 4 152065202 [A/G] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_R415C,Missense_R438C,Missense_R415C,Missense_R379C exm428475 4 152065392 [A/G] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Silent,Missense_P431S,Silent,Silent exm428480 4 152069075 [A/G] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_M414T,Missense_M414T,Missense_M414T,Missense_M378T exm428482 4 152069090 [A/G] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_L409P,Missense_L409P,Missense_L409P,Missense_L373P variant.83032 4 152086807 [A/G] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Nonsense_R246X,Nonsense_R246X,Nonsense_R246X,Silent rs11734586 4 152095256 [T/C] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 Silent,Silent,Silent,Silent exm428507 4 152096013 [A/G] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_P168L,Missense_P168L,Missense_P168L,Missense_P168L exm428510 4 152096094 [T/C] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_R141Q,Missense_R141Q,Missense_R141Q,Missense_R141Q variant.83035 4 152096179 [A/G] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Nonsense_R113X,Nonsense_R113X,Nonsense_R113X,Nonsense_R113X exm428521 4 152096180 [T/C] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_I112M,Missense_I112M,Missense_I112M,Missense_I112M exm428528 4 152096377 [T/C] NM_001243349,NM_001009555,NM_001128923,NM_001128924 SH3D19,SH3D19,SH3D19,SH3D19 EXON Missense_T47A,Missense_T47A,Missense_T47A,Missense_T47A rs12647306 4 152105400 [A/G] NM_001243349,NM_001009555,NM_001128923 SH3D19,SH3D19,SH3D19 Silent,Silent,Silent rs2407406 4 152144869 [A/G] NM_001243349,NM_001009555,NM_001128923 SH3D19,SH3D19,SH3D19 Silent,Silent,Silent rs10520101 4 152147262 [A/G] NM_001243349,NM_001009555,NM_001128923 SH3D19,SH3D19,SH3D19 Silent,Silent,Silent rs2407167 4 152172980 [A/C] rs10520104 4 152179311 [T/C] rs10016704 4 152192808 [A/G] rs6832149 4 152196218 [A/G] exm428537 4 152201011 [A/G] NM_183375 PRSS48 EXON Nonsense_W39X newrs77216366 4 152201018 [I/D] NM_183375 PRSS48 EXON exm428542 4 152201031 [T/C] NM_183375 PRSS48 EXON Missense_H46Y exm428543 4 152201053 [A/G] NM_183375 PRSS48 EXON Missense_C53Y exm428544 4 152201067 [A/G] NM_183375 PRSS48 EXON Missense_V58I indel.83037 4 152201082 [I/D] NM_183375 PRSS48 EXON variant.83038 4 152201110 [T/C] NM_183375 PRSS48 EXON Missense_P72L indel.83039 4 152203302 [D/I] NM_183375 PRSS48 EXON exm428556 4 152203437 [T/C] NM_183375 PRSS48 EXON Missense_L118S exm428557 4 152203451 [G/C] NM_183375 PRSS48 EXON Missense_Q123E exm428561 4 152203562 [T/G] NM_183375 PRSS48 EXON Missense_S160A rs13112985 4 152205278 [A/G] NM_183375 PRSS48 Silent exm428576 4 152212475 [T/C] NM_183375 PRSS48 EXON Missense_L286P exm428579 4 152212580 [C/G] NM_183375 PRSS48 EXON Missense_W321S exm428580 4 152212603 [T/G] NM_183375 PRSS48 EXON Missense_X329E rs11734518 4 152213113 [A/G] rs6535787 4 152227582 [T/C] rs11935905 4 152229767 [T/C] exm2269865 4 152244318 [T/G] rs2407171 4 152256782 [A/G] rs10033020 4 152280646 [A/G] rs6535791 4 152294729 [A/G] rs9968292 4 152297368 [T/C] exm-rs2709828 4 152355268 [T/C] NM_001109977 FAM160A1 Silent rs6845067 4 152375803 [T/C] NM_001109977 FAM160A1 Silent rs11732407 4 152401909 [A/G] NM_001109977 FAM160A1 Silent rs1899550 4 152407236 [T/C] NM_001109977 FAM160A1 Silent rs17027640 4 152417635 [A/G] NM_001109977 FAM160A1 Silent rs1443088 4 152450126 [A/G] NM_001109977 FAM160A1 Silent rs1946999 4 152455339 [T/C] NM_001109977 FAM160A1 Silent rs7695412 4 152488075 [A/G] NM_001109977 FAM160A1 Silent exm428589 4 152498875 [A/G] NM_001109977 FAM160A1 EXON Missense_T127A exm428593 4 152499143 [A/G] NM_001109977 FAM160A1 EXON Missense_R216Q exm428594 4 152499205 [A/G] NM_001109977 FAM160A1 EXON Missense_V237M rs1473305 4 152511721 [T/G] NM_001109977 FAM160A1 Silent exm428605 4 152550918 [A/G] NM_001109977 FAM160A1 EXON Missense_E348G rs9631757 4 152567239 [A/G] NM_001109977 FAM160A1 Silent variant.83042 4 152567751 [A/G] NM_001109977 FAM160A1 EXON Nonsense_W423X exm428620 4 152570638 [T/C] NM_001109977 FAM160A1 EXON Missense_A482V exm2240536 4 152570824 [A/G] NM_001109977 FAM160A1 EXON Missense_S544N exm428628 4 152570833 [T/C] NM_001109977 FAM160A1 EXON Missense_S547L exm428639 4 152571453 [A/C] NM_001109977 FAM160A1 EXON Missense_Q754K exm428640 4 152571525 [T/G] NM_001109977 FAM160A1 EXON Missense_D778Y variant.83046 4 152577473 [T/C] NM_001109977 FAM160A1 EXON Nonsense_Q881X indel.83047 4 152577487 [D/I] NM_001109977 FAM160A1 EXON exm2256407 4 152577526 [T/C] NM_001109977 FAM160A1 EXON Synonymous_N898N exm428653 4 152577960 [A/G] NM_001109977 FAM160A1 EXON Missense_R927G exm428656 4 152583764 [G/C] NM_001109977 FAM160A1 EXON Missense_P994R rs17027780 4 152590337 [T/G] variant.83049 4 152592379 [A/G] NM_004564 PET112 EXON Nonsense_R541X exm428666 4 152592396 [T/C] NM_004564 PET112 EXON Missense_R535Q indel.83050 4 152592405 [I/D] NM_004564 PET112 EXON rs7669761 4 152609304 [A/G] NM_004564 PET112 Silent exm2256408 4 152609784 [T/C] NM_004564 PET112 EXON Synonymous_E443E exm428676 4 152609784 [T/C] NM_004564 PET112 EXON Synonymous_E443E exm428680 4 152609803 [T/C] NM_004564 PET112 EXON Missense_Q437R exm428682 4 152609838 [T/C] NM_004564 PET112 EXON Nonsense_W425X indel.83053 4 152609884 [I/D] NM_004564 PET112 EXON exm428685 4 152609915 [T/C] NM_004564 PET112 EXON Missense_N400D rs6833277 4 152610318 [T/C] NM_004564 PET112 Silent rs4696288 4 152621150 [A/C] NM_004564 PET112 Silent exm428687 4 152622518 [A/T] NM_004564 PET112 EXON Missense_Q387L variant.83054 4 152622519 [A/G] NM_004564 PET112 EXON Nonsense_Q387X exm428690 4 152622533 [T/C] NM_004564 PET112 EXON Missense_E382G variant.83055 4 152622537 [A/G] NM_004564 PET112 EXON Nonsense_R381X exm428693 4 152622545 [A/C] NM_004564 PET112 EXON Missense_S378I exm428695 4 152622557 [A/G] NM_004564 PET112 EXON Missense_P374L exm2067493 4 152622623 [A/G] NM_004564 PET112 EXON Missense_T352I variant.83056 4 152626336 [A/C] NM_004564 PET112 Silent variant.83058 4 152629139 [T/C] NM_004564 PET112 Silent exm428707 4 152629194 [T/C] NM_004564 PET112 EXON Missense_V275I exm428709 4 152629221 [T/C] NM_004564 PET112 EXON Missense_V266M exm428714 4 152637172 [A/G] NM_004564 PET112 EXON Missense_A251V exm428715 4 152637217 [T/A] NM_004564 PET112 EXON Missense_V236D exm428717 4 152637229 [A/G] NM_004564 PET112 EXON Missense_A232V exm428723 4 152638153 [A/C] NM_004564 PET112 EXON Missense_G172V exm428724 4 152638163 [T/C] NM_004564 PET112 EXON Missense_V169I exm428727 4 152638226 [A/C] NM_004564 PET112 EXON Missense_A148S variant.83061 4 152640576 [T/C] NM_004564 PET112 Silent exm428730 4 152640633 [A/G] NM_004564 PET112 EXON Missense_H129Y rs7684350 4 152672882 [T/G] NM_004564 PET112 Silent exm428736 4 152679964 [A/G] NM_004564 PET112 EXON Missense_L96S rs1429559 4 152681952 [A/G] NM_004564 PET112 Silent exm428743 4 152681998 [A/G] NM_004564 PET112 EXON Missense_A46V exm428747 4 152682046 [T/G] NM_004564 PET112 EXON Missense_A30D exm428750 4 152682110 [A/C] NM_004564 PET112 EXON Missense_G9C rs11099829 4 152727299 [T/C] rs6846809 4 152730201 [A/G] rs2136961 4 152746079 [A/G] rs1397684 4 152752413 [T/G] rs361191 4 152761633 [T/G] rs361197 4 152763556 [A/G] rs6843959 4 152764822 [T/C] rs361099 4 152773713 [T/C] rs361210 4 152777262 [A/G] rs7657092 4 152779838 [T/C] rs1872513 4 152784669 [T/C] rs17027997 4 152790580 [A/G] rs361167 4 152790628 [A/G] rs361163 4 152799883 [A/G] rs715947 4 152801922 [A/C] rs4696302 4 152813118 [A/G] rs361139 4 152818704 [A/G] rs569802 4 152825600 [A/G] rs361110 4 152841392 [A/G] rs10028709 4 152845946 [A/C] rs360936 4 152846749 [A/C] rs360939 4 152854578 [A/C] rs165579 4 152861685 [T/C] rs6845076 4 152880827 [A/C] rs360915 4 152887879 [T/C] rs975820 4 152899554 [T/C] exm2265777 4 152900692 [A/G] exm-rs360929 4 152907700 [A/G] rs6852759 4 152912247 [A/C] rs10857265 4 152914614 [T/C] rs4696124 4 152935555 [T/G] rs17028403 4 152943626 [A/G] rs12505581 4 152948812 [A/G] rs7664595 4 152957069 [A/G] rs13149643 4 152958338 [A/G] rs6842274 4 152980406 [A/G] rs10032875 4 152984540 [T/C] rs11737270 4 152988228 [A/G] rs4696128 4 152992266 [T/C] exm2269980 4 152994226 [T/C] rs17361160 4 153016797 [T/C] rs747110 4 153017452 [A/G] rs17361216 4 153029463 [A/G] rs10517562 4 153035743 [A/G] rs13107968 4 153037671 [T/C] rs6823091 4 153069783 [A/C] rs6849420 4 153090442 [T/C] rs2897464 4 153091323 [A/C] rs6858503 4 153095684 [T/C] rs17361412 4 153097096 [T/C] rs11732677 4 153100692 [T/C] rs13127295 4 153110256 [A/G] rs13109486 4 153111134 [T/C] rs6856727 4 153121818 [T/G] rs11727661 4 153134959 [A/C] rs3749541 4 153143877 [T/C] rs4554046 4 153167171 [A/G] rs2406623 4 153184316 [A/G] rs3923993 4 153206597 [T/C] kgp9731067 4 153208295 [T/C] kgp9754550 4 153209540 [A/G] exm2067541 4 153268198 [T/C] NM_033632,NM_001013415,NM_018315 FBXW7,FBXW7,FBXW7 EXON Missense_A204T,Missense_A86T,Missense_A124T exm428789 4 153271203 [T/G] NM_033632,NM_001013415,NM_018315 FBXW7,FBXW7,FBXW7 EXON Missense_E192A,Missense_E74A,Missense_E112A exm428791 4 153271242 [T/C] NM_033632,NM_001013415,NM_018315 FBXW7,FBXW7,FBXW7 EXON Missense_R179H,Missense_R61H,Missense_R99H exm428798 4 153273707 [T/C] NM_033632,NM_001013415,NM_018315 FBXW7,FBXW7,FBXW7 EXON Silent,Silent,Missense_R59Q rs17028858 4 153302754 [T/C] NM_033632,NM_001013415 FBXW7,FBXW7 Silent,Silent exm428806 4 153303361 [A/G] NM_033632,NM_001013415 FBXW7,FBXW7 EXON Silent,Missense_L43F rs12644477 4 153332380 [T/G] NM_033632,NM_001257069 FBXW7,FBXW7 EXON Silent,Silent exm428815 4 153332477 [A/G] NM_033632,NM_001257069 FBXW7,FBXW7 EXON Missense_P160L,Missense_P160L exm428816 4 153332492 [T/C] NM_033632,NM_001257069 FBXW7,FBXW7 EXON Missense_H155R,Missense_H155R exm428818 4 153332496 [T/C] NM_033632,NM_001257069 FBXW7,FBXW7 EXON Missense_V154I,Missense_V154I exm2240544 4 153332540 [T/C] NM_033632,NM_001257069 FBXW7,FBXW7 EXON Missense_H139R,Missense_H139R exm428821 4 153332559 [T/C] NM_033632,NM_001257069 FBXW7,FBXW7 EXON Missense_R133G,Missense_R133G kgp11169529 4 153337262 [A/C] NM_033632,NM_001257069 FBXW7,FBXW7 Silent,Silent rs2676334 4 153340648 [A/C] NM_033632,NM_001257069 FBXW7,FBXW7 Silent,Silent rs17028932 4 153415654 [T/C] NM_033632,NM_001257069 FBXW7,FBXW7 Silent,Silent rs17028936 4 153419508 [T/C] NM_033632,NM_001257069 FBXW7,FBXW7 Silent,Silent rs1961679 4 153421334 [A/G] NM_033632,NM_001257069 FBXW7,FBXW7 Silent,Silent rs2054757 4 153485919 [A/G] rs10011174 4 153495515 [A/G] rs10020796 4 153519781 [T/C] exm-rs6813195 4 153520475 [T/C] rs7695877 4 153532240 [A/G] rs4696332 4 153559468 [T/C] NM_152680 TMEM154 Silent exm428851 4 153562095 [A/G] NM_152680 TMEM154 EXON Missense_S174L exm428854 4 153564250 [T/C] NM_152680 TMEM154 EXON Missense_M156I exm2067558 4 153564305 [A/G] NM_152680 TMEM154 EXON Missense_T138I variant.83062 4 153565592 [A/C] NM_152680 TMEM154 EXON Nonsense_E123X exm2256410 4 153568434 [T/G] NM_152680 TMEM154 Silent rs4508863 4 153571180 [A/G] NM_152680 TMEM154 Silent exm428862 4 153573692 [A/G] NM_152680 TMEM154 EXON Missense_T121I indel.83063 4 153573896 [D/I] NM_152680 TMEM154 EXON rs6814401 4 153575339 [A/G] NM_152680 TMEM154 Silent rs12650067 4 153601716 [A/G] rs13124365 4 153629791 [T/C] rs4128306 4 153641782 [A/G] rs4696345 4 153644873 [A/G] rs4396973 4 153647078 [A/G] rs4077297 4 153656788 [T/C] rs12500918 4 153669008 [A/C] exm2264070 4 153669008 [A/C] rs4540026 4 153669404 [T/C] exm428882 4 153690691 [T/C] NM_145720 TIGD4 EXON Missense_Q489R exm428883 4 153690727 [A/G] NM_145720 TIGD4 EXON Missense_T477I exm428887 4 153690842 [T/C] NM_145720 TIGD4 EXON Missense_I439V exm428889 4 153690863 [T/C] NM_145720 TIGD4 EXON Missense_A432T exm428901 4 153691222 [A/G] NM_145720 TIGD4 EXON Missense_S312F newrs34696355 4 153691316 [A/G] NM_145720 TIGD4 EXON Nonsense_R281X exm428908 4 153691316 [A/G] NM_145720 TIGD4 EXON Nonsense_R281X exm428915 4 153691499 [A/T] NM_145720 TIGD4 EXON Missense_T220S exm428916 4 153691528 [T/C] NM_145720 TIGD4 EXON Missense_C210Y exm428921 4 153691747 [T/G] NM_145720 TIGD4 EXON Missense_K137T exm428928 4 153691999 [A/G] NM_145720 TIGD4 EXON Missense_L53S rs4359884 4 153695501 [T/C] NM_145720 TIGD4 Silent rs4276265 4 153695779 [T/C] NM_145720 TIGD4 Silent rs4504228 4 153732359 [T/C] NM_014447,NM_001025595,NM_001025593 ARFIP1,ARFIP1,ARFIP1 Silent,Silent,Silent rs13102607 4 153779819 [T/C] NM_014447,NM_001025595,NM_001025593 ARFIP1,ARFIP1,ARFIP1 Silent,Silent,Silent exm428949 4 153791955 [C/G] NM_014447,NM_001025595,NM_001025593 ARFIP1,ARFIP1,ARFIP1 EXON Silent,Missense_A85P,Silent rs10013266 4 153793179 [T/C] NM_014447,NM_001025595,NM_001025593 ARFIP1,ARFIP1,ARFIP1 Silent,Silent,Silent variant.83070 4 153793602 [A/G] NM_014447,NM_001025595,NM_001025593 ARFIP1,ARFIP1,ARFIP1 Silent,Silent,Silent rs4254753 4 153800029 [T/G] NM_014447,NM_001025595,NM_001025593 ARFIP1,ARFIP1,ARFIP1 Silent,Silent,Silent exm428958 4 153802203 [A/G] NM_014447,NM_001025595,NM_001025593 ARFIP1,ARFIP1,ARFIP1 EXON Missense_D135G,Missense_D167G,Missense_D135G exm428959 4 153802224 [A/G] NM_014447,NM_001025595,NM_001025593 ARFIP1,ARFIP1,ARFIP1 EXON Missense_N142S,Missense_N174S,Missense_N142S exm2067583 4 153802307 [A/G] NM_014447,NM_001025595,NM_001025593 ARFIP1,ARFIP1,ARFIP1 EXON Missense_D170N,Missense_D202N,Missense_D170N exm2067587 4 153809287 [T/C] NM_014447,NM_001025595,NM_001025593 ARFIP1,ARFIP1,ARFIP1 EXON Missense_I233T,Missense_I265T,Missense_I233T rs7664303 4 153829996 [A/G] NM_014447,NM_001025595,NM_001025593 ARFIP1,ARFIP1,ARFIP1 Silent,Silent,Silent exm428976 4 153831260 [T/G] NM_014447,NM_001025595,NM_001025593 ARFIP1,ARFIP1,ARFIP1 EXON Missense_I305M,Missense_I337M,Missense_I305M exm428983 4 153864319 [T/C] NM_033393 FHDC1 EXON Missense_P37L exm428984 4 153864333 [T/C] NM_033393 FHDC1 EXON Missense_P42S exm428996 4 153864453 [A/G] NM_033393 FHDC1 EXON Missense_T82A exm429003 4 153864520 [T/C] NM_033393 FHDC1 EXON Missense_T104I exm429012 4 153874666 [A/G] NM_033393 FHDC1 EXON Missense_A172T exm429013 4 153874672 [T/C] NM_033393 FHDC1 EXON Missense_R174W exm429014 4 153874690 [A/G] NM_033393 FHDC1 EXON Missense_I180V exm429015 4 153874712 [A/G] NM_033393 FHDC1 EXON Missense_K187R exm429016 4 153875376 [C/G] NM_033393 FHDC1 EXON Missense_R190G rs11737767 4 153879878 [T/C] NM_033393 FHDC1 Silent exm429027 4 153881744 [A/G] NM_033393 FHDC1 EXON Missense_D231N indel.83073 4 153881801 [I/D] NM_033393 FHDC1 EXON exm2240548 4 153889149 [T/C] NM_033393 FHDC1 EXON Missense_T373M exm429044 4 153889208 [T/C] NM_033393 FHDC1 EXON Missense_R393W exm429045 4 153889209 [A/G] NM_033393 FHDC1 EXON Missense_R393Q rs11099864 4 153893354 [A/G] NM_033393 FHDC1 Silent exm-rs11099864 4 153893354 [A/G] NM_033393 FHDC1 Silent variant.83075 4 153893528 [T/G] NM_033393 FHDC1 Silent variant.83076 4 153893568 [T/C] NM_033393 FHDC1 EXON Nonsense_Q420X rs908526 4 153894243 [A/G] NM_033393 FHDC1 Silent exm429052 4 153895836 [A/G] NM_033393 FHDC1 EXON Missense_D465N exm429053 4 153895839 [T/C] NM_033393 FHDC1 EXON Missense_R466W exm429055 4 153895896 [T/C] NM_033393 FHDC1 EXON Missense_R485C exm429056 4 153895897 [A/G] NM_033393 FHDC1 EXON Missense_R485H exm429057 4 153895986 [A/C] NM_033393 FHDC1 EXON Missense_L515M exm2067627 4 153896160 [T/C] NM_033393 FHDC1 EXON Missense_R573W exm429071 4 153896172 [T/C] NM_033393 FHDC1 EXON Missense_R577W exm429074 4 153896257 [T/C] NM_033393 FHDC1 EXON Missense_S605L exm429078 4 153896299 [A/C] NM_033393 FHDC1 EXON Missense_A619E exm429082 4 153896338 [T/C] NM_033393 FHDC1 EXON Missense_S632F exm429085 4 153896358 [T/C] NM_033393 FHDC1 EXON Missense_R639C exm429087 4 153896367 [A/G] NM_033393 FHDC1 EXON Missense_V642I exm429088 4 153896380 [A/G] NM_033393 FHDC1 EXON Missense_R646Q exm429096 4 153896619 [C/G] NM_033393 FHDC1 EXON Missense_P726A exm429097 4 153896643 [T/A] NM_033393 FHDC1 EXON Missense_S734C exm429098 4 153896656 [T/C] NM_033393 FHDC1 EXON Missense_A738V exm429103 4 153896691 [A/G] NM_033393 FHDC1 EXON Missense_G750R exm429110 4 153896780 [G/C] NM_033393 FHDC1 EXON Missense_C779W exm429125 4 153896982 [A/G] NM_033393 FHDC1 EXON Missense_G847S exm429127 4 153897004 [T/C] NM_033393 FHDC1 EXON Missense_T854I exm429129 4 153897024 [C/G] NM_033393 FHDC1 EXON Missense_A861P exm429135 4 153897094 [A/T] NM_033393 FHDC1 EXON Missense_Q884L exm429153 4 153897516 [A/G] NM_033393 FHDC1 EXON Missense_V1025I exm429159 4 153897567 [T/G] NM_033393 FHDC1 EXON Missense_S1042A exm429167 4 153897690 [A/G] NM_033393 FHDC1 EXON Missense_S1083G exm2274054 4 153897817 [A/G] NM_033393 FHDC1 EXON Missense_R1125H rs6851633 4 153902939 [T/C] rs6535886 4 153903766 [A/G] rs6844943 4 153909331 [T/C] rs13131114 4 153915003 [T/C] rs13120414 4 153917822 [A/G] rs1878284 4 153919578 [A/C] rs12504106 4 153920579 [A/G] rs6535888 4 153938095 [T/C] rs17029499 4 153945320 [A/G] rs6814889 4 153947145 [A/G] rs1607074 4 153957777 [T/C] rs17029520 4 153958198 [T/C] rs1516692 4 153963155 [A/C] rs4696161 4 153970416 [A/C] rs4696392 4 153980805 [T/C] rs2090380 4 153986325 [A/G] rs6858521 4 153991639 [A/G] rs4696396 4 154000968 [T/C] rs7691951 4 154003295 [T/C] rs12651091 4 154008962 [T/C] rs1878285 4 154012751 [T/G] rs17029682 4 154016973 [A/G] rs2176304 4 154017805 [T/C] rs1516689 4 154020068 [A/G] rs1588982 4 154022065 [T/C] rs10001638 4 154055176 [T/C] rs880972 4 154058319 [T/C] rs4075881 4 154066142 [A/C] rs4075879 4 154066319 [T/C] rs6817112 4 154080813 [T/C] NM_001130067 TRIM2 Silent rs4696428 4 154087520 [T/C] NM_001130067 TRIM2 Silent rs10023596 4 154094001 [A/G] NM_001130067 TRIM2 Silent rs6535904 4 154110795 [A/G] NM_001130067 TRIM2 Silent rs6817587 4 154118168 [A/G] NM_001130067 TRIM2 Silent exm2265883 4 154124278 [A/G] NM_001130067 TRIM2 Silent rs9997214 4 154135457 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 Silent,Silent rs6535908 4 154138086 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 Silent,Silent rs11723584 4 154138758 [T/C] NM_001130067,NM_015271 TRIM2,TRIM2 Silent,Silent exm-rs12644284 4 154154000 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 Silent,Silent rs6813648 4 154159547 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 Silent,Silent exm429180 4 154191578 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_R14H,Missense_R41H rs1470104 4 154191710 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 Silent,Silent rs6833828 4 154196082 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 Silent,Silent rs1455840 4 154200320 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 Silent,Silent exm429195 4 154214200 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_A147T,Missense_A174T exm429201 4 154215528 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_S199N,Missense_S226N exm429219 4 154216666 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_V303M,Missense_V330M rs893805 4 154216710 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Synonymous_T317T,Synonymous_T344T exm429239 4 154217059 [G/C] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_V434L,Missense_V461L exm429245 4 154217147 [T/G] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_R463L,Missense_R490L rs2033880 4 154232522 [A/C] NM_001130067,NM_015271 TRIM2,TRIM2 Silent,Silent rs17029874 4 154244315 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 Silent,Silent exm2240553 4 154245247 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_V630I,Missense_V657I exm429259 4 154245268 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_I637V,Missense_I664V exm429269 4 154255999 [A/G] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_I706V,Missense_I733V exm429270 4 154256017 [T/C] NM_001130067,NM_015271 TRIM2,TRIM2 EXON Missense_P712S,Missense_P739S exm429292 4 154279749 [A/G] NM_001253861,NR_045605,NM_032117 MND1,MND1,MND1 EXON Missense_H84R,Silent,Missense_H84R exm2067677 4 154279752 [A/T] NM_001253861,NR_045605,NM_032117 MND1,MND1,MND1 EXON Missense_K85M,Silent,Missense_K85M rs17029903 4 154284935 [A/G] NM_001253861,NR_045605,NM_032117 MND1,MND1,MND1 Silent,Silent,Silent rs17029907 4 154288126 [A/G] NM_001253861,NR_045605,NM_032117 MND1,MND1,MND1 Silent,Silent,Silent rs12499126 4 154292316 [A/G] NM_001253861,NR_045605,NM_032117 MND1,MND1,MND1 Silent,Silent,Silent rs10517571 4 154314931 [A/C] NM_001253861,NR_045605,NM_032117 MND1,MND1,MND1 Silent,Silent,Silent exm429295 4 154315487 [T/C] NM_001253861,NR_045605,NM_032117 MND1,MND1,MND1 EXON Missense_T117M,Silent,Missense_T117M variant.83081 4 154315488 [A/G] NM_001253861,NR_045605,NM_032117 MND1,MND1,MND1 EXON Synonymous_T117T,Silent,Synonymous_T117T exm429297 4 154318381 [C/G] NM_001253861,NR_045605,NM_032117 MND1,MND1,MND1 EXON Silent,Silent,Missense_T121S exm429298 4 154318384 [C/G] NM_001253861,NR_045605,NM_032117 MND1,MND1,MND1 EXON Silent,Silent,Missense_R122T exm429299 4 154318460 [T/G] NM_001253861,NR_045605,NM_032117 MND1,MND1,MND1 EXON Silent,Silent,Missense_C147W variant.83082 4 154318485 [T/C] NM_001253861,NR_045605,NM_032117 MND1,MND1,MND1 EXON Silent,Silent,Missense_R156C rs12510542 4 154334786 [T/C] NM_001253861,NR_045605,NM_032117 MND1,MND1,MND1 Silent,Silent,Silent exm429308 4 154335938 [A/C] NM_001253861,NR_045605,NM_032117 MND1,MND1,MND1 EXON Silent,Silent,Missense_K183Q rs10030294 4 154339482 [T/C] rs17029966 4 154354566 [T/C] rs11732163 4 154376222 [A/G] rs1560940 4 154378572 [A/G] exm429316 4 154388363 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_A42V,Missense_A42V rs1836401 4 154389653 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent rs2405712 4 154401015 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent exm2269867 4 154415184 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent rs13119846 4 154415184 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent rs10030193 4 154427319 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent rs13125518 4 154437863 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent rs7660240 4 154448872 [T/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent rs6810447 4 154461884 [T/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent rs3864176 4 154466939 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent rs11724474 4 154468420 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent rs6535925 4 154469214 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent exm429320 4 154471243 [T/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_F86L,Missense_F86L exm429323 4 154477046 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_P139L,Missense_P139L exm429327 4 154478212 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_S176L,Missense_S176L rs7673291 4 154502068 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent exm429345 4 154502559 [C/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_G247R,Missense_G247R exm429346 4 154502566 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_Y249C,Missense_Y249C exm429361 4 154504740 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_D326N,Missense_D326N exm429362 4 154504779 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_T339A,Missense_T339A exm429364 4 154505986 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent exm429375 4 154506707 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_R418C,Missense_R419C exm429384 4 154508940 [A/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_Y509S,Missense_Y510S exm429385 4 154508962 [A/T] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Synonymous_A516A,Synonymous_A517A exm429390 4 154510126 [C/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_R545T,Missense_R546T exm429392 4 154510150 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_D553G,Missense_D554G exm429399 4 154512329 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_A598T,Missense_A599T exm429400 4 154513627 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_I604V,Missense_I605V rs17370297 4 154514965 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_M645T,Missense_M646T exm429406 4 154514965 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_M645T,Missense_M646T exm429407 4 154514973 [T/A] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_I648F,Missense_I649F exm2240558 4 154517411 [T/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_G665V,Missense_G666V exm2256413 4 154517484 [A/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Synonymous_G689G,Synonymous_G690G exm429419 4 154519764 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_M715V,Missense_M716V variant.83085 4 154519884 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Nonsense_Q755X,Nonsense_Q756X exm2240560 4 154523405 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_Y789H,Missense_Y790H exm429435 4 154523749 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_A836T,Missense_A837T exm429438 4 154523845 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_E868K,Missense_E869K exm429454 4 154525138 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_T991A,Missense_T992A exm429461 4 154525360 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_V1065I,Missense_V1066I exm429469 4 154525420 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_P1085S,Missense_P1086S exm429470 4 154525446 [A/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Synonymous_S1093S,Synonymous_S1094S exm429473 4 154525471 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_R1102W,Missense_R1103W exm429477 4 154525541 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_Y1125C,Missense_Y1126C rs13135353 4 154532047 [T/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent exm429482 4 154533506 [C/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_S1173C,Missense_S1174C rs6535930 4 154540056 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent exm429484 4 154541935 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_L1198F,Missense_L1199F exm429492 4 154542905 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_N1254D,Missense_N1255D exm429493 4 154542906 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_N1254S,Missense_N1255S exm429500 4 154544148 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_R1319W,Missense_R1320W exm429514 4 154548809 [C/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_A1392P,Missense_A1393P rs6535932 4 154549663 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 Silent,Silent exm2274055 4 154556599 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_A1477V,Missense_A1478V exm429530 4 154556680 [A/G] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_N1504S,Missense_N1505S exm429540 4 154557616 [T/C] NM_015196,NM_001131007 KIAA0922,KIAA0922 EXON Missense_P1573L,Missense_P1574L rs1025748 4 154563897 [T/G] rs2165084 4 154571036 [A/G] rs7656224 4 154571570 [A/G] rs6853866 4 154581208 [T/C] rs1595625 4 154584591 [A/G] rs11727442 4 154585922 [A/G] rs6835636 4 154590349 [A/G] rs13150331 4 154599622 [A/G] rs7696323 4 154605745 [T/C] NM_003264 TLR2 Silent rs1816702 4 154609523 [T/C] NM_003264 TLR2 Silent rs11938228 4 154621946 [A/C] NM_003264 TLR2 Silent exm429547 4 154624136 [T/C] NM_003264 TLR2 EXON Missense_A26V exm429549 4 154624178 [T/C] NM_003264 TLR2 EXON Missense_S40L exm2067766 4 154624227 [C/G] NM_003264 TLR2 EXON Missense_S56R exm429556 4 154624316 [A/G] NM_003264 TLR2 EXON Missense_N86S exm429559 4 154624330 [A/G] NM_003264 TLR2 EXON Missense_I91V indel.83089 4 154624426 [I/D] NM_003264 TLR2 EXON exm429564 4 154624472 [T/C] NM_003264 TLR2 EXON Missense_T138I exm429569 4 154624585 [T/C] NM_003264 TLR2 EXON Missense_L176F exm429571 4 154624648 [T/A] NM_003264 TLR2 EXON Missense_I197F exm429575 4 154624709 [T/C] NM_003264 TLR2 EXON Missense_F217S exm429581 4 154624857 [C/G] NM_003264 TLR2 EXON Missense_L266F exm429582 4 154624864 [G/C] NM_003264 TLR2 EXON Missense_V269L exm429590 4 154625118 [T/A] NM_003264 TLR2 EXON Nonsense_C353X exm429591 4 154625126 [C/G] NM_003264 TLR2 EXON Nonsense_S356X exm2067772 4 154625259 [A/G] NM_003264 TLR2 EXON Synonymous_A400A exm2256415 4 154625259 [A/G] NM_003264 TLR2 EXON Synonymous_A400A exm2240563 4 154625291 [T/C] NM_003264 TLR2 EXON Missense_T411I exm429599 4 154625398 [T/C] NM_003264 TLR2 EXON Nonsense_R447X exm2240564 4 154625399 [A/G] NM_003264 TLR2 EXON Missense_R447Q rs3804100 4 154625409 [T/C] NM_003264 TLR2 EXON Synonymous_S450S exm429601 4 154625486 [A/T] NM_003264 TLR2 EXON Nonsense_L476X exm429604 4 154625531 [T/C] NM_003264 TLR2 EXON Missense_T491I exm429607 4 154625597 [T/C] NM_003264 TLR2 EXON Missense_T513M exm429619 4 154625726 [T/C] NM_003264 TLR2 EXON Missense_I556T exm429622 4 154625750 [A/G] NM_003264 TLR2 EXON Missense_C564Y exm429623 4 154625771 [A/G] NM_003264 TLR2 EXON Missense_R571H exm429626 4 154625795 [A/G] NM_003264 TLR2 EXON Missense_R579H exm429633 4 154625948 [A/G] NM_003264 TLR2 EXON Missense_K630R exm429634 4 154625951 [A/C] NM_003264 TLR2 EXON Missense_P631H exm429636 4 154625965 [A/C] NM_003264 TLR2 EXON Missense_S636R exm429649 4 154626271 [G/C] NM_003264 TLR2 EXON Missense_E738Q exm429652 4 154626317 [A/G] NM_003264 TLR2 EXON Missense_R753Q exm2067782 4 154626355 [A/G] NM_003264 TLR2 EXON Missense_M766V rs7656411 4 154627655 [T/G] exm429661 4 154631543 [T/A] NM_173662 RNF175 EXON Missense_I322N exm429662 4 154631550 [T/C] NM_173662 RNF175 EXON Missense_G320S exm429663 4 154631563 [T/C] NM_173662 RNF175 EXON Missense_I315M exm429664 4 154631587 [G/C] NM_173662 RNF175 EXON Missense_L307F exm429667 4 154631634 [A/G] NM_173662 RNF175 EXON Missense_R292C rs17030340 4 154632838 [A/G] NM_173662 RNF175 Silent indel.83098 4 154633661 [I/D] NM_173662 RNF175 EXON exm429673 4 154633708 [T/C] NM_173662 RNF175 EXON Missense_R262Q exm429676 4 154636689 [A/C] NM_173662 RNF175 EXON Missense_C252W indel.83101 4 154636718 [D/I] NM_173662 RNF175 EXON exm429682 4 154636798 [T/C] NM_173662 RNF175 EXON Missense_R216Q exm429685 4 154641371 [T/C] NM_173662 RNF175 EXON Missense_E199K indel.83102 4 154641375 [I/D] NM_173662 RNF175 EXON rs1439166 4 154641489 [T/C] NM_173662 RNF175 Silent variant.83103 4 154644498 [T/C] NM_173662 RNF175 Silent rs10517577 4 154644537 [T/C] NM_173662 RNF175 EXON Missense_M159V exm429692 4 154644537 [T/C] NM_173662 RNF175 EXON Missense_M159V exm429694 4 154644542 [A/G] NM_173662 RNF175 EXON Missense_A157V rs10440446 4 154645471 [A/G] NM_173662 RNF175 Silent exm2067790 4 154649359 [T/C] NM_173662 RNF175 EXON Missense_R134Q exm2275334 4 154649360 [A/G] NM_173662 RNF175 EXON Nonsense_R134X indel.83106 4 154649481 [D/I] NM_173662 RNF175 EXON rs17030382 4 154650887 [A/G] NM_173662 RNF175 Silent rs11099896 4 154664697 [T/G] NM_173662 RNF175 Silent rs1598632 4 154667382 [A/G] NM_173662 RNF175 Silent exm429702 4 154669846 [A/G] NM_173662 RNF175 EXON Missense_A66V exm429703 4 154669859 [T/C] NM_173662 RNF175 EXON Missense_V62I exm429707 4 154669901 [A/G] NM_173662 RNF175 EXON Missense_H48Y exm429708 4 154669906 [T/C] NM_173662 RNF175 EXON Missense_R46Q rs17030417 4 154670813 [A/G] NM_173662 RNF175 Silent rs6857738 4 154689140 [A/C] rs12639885 4 154700374 [A/G] exm-rs17030434 4 154703596 [T/C] NM_003013 SFRP2 Silent exm429738 4 154709854 [A/G] NM_003013 SFRP2 EXON Missense_A45V rs1105491 4 154726634 [T/G] rs11723258 4 154733070 [T/C] rs17030494 4 154743191 [T/G] rs10031057 4 154746806 [A/G] rs994598 4 154768011 [T/C] rs7673508 4 154769597 [T/C] rs1378933 4 154787090 [T/C] rs1378926 4 154799030 [T/G] rs4696520 4 154806716 [A/G] rs6831196 4 154827630 [A/C] rs9995821 4 154828366 [T/C] rs9307914 4 154829156 [A/G] rs10031184 4 154834707 [T/C] rs10011860 4 154835465 [A/C] rs11099924 4 154850835 [A/G] rs13135284 4 154864750 [T/C] rs6818192 4 154883493 [A/G] rs7661078 4 154883600 [A/G] rs1878449 4 154887604 [A/G] rs9790432 4 154890983 [A/G] rs9790702 4 154891356 [T/C] rs12508232 4 154908045 [A/G] rs12505740 4 154909285 [T/G] rs6813540 4 154930494 [T/G] rs13105395 4 154931179 [A/C] rs17030932 4 154932704 [T/C] rs6824634 4 154935574 [T/C] rs12641646 4 154938328 [T/G] rs17031035 4 154951914 [A/G] rs6858024 4 154955187 [T/C] rs6858076 4 154955311 [A/G] rs1320100 4 154962558 [A/G] rs6835823 4 154972357 [T/G] rs11099935 4 154974131 [T/C] rs11099936 4 154974203 [T/G] rs2404916 4 154995463 [A/G] exm2264071 4 154998232 [A/C] rs9307919 4 155000585 [T/C] rs17031131 4 155008496 [T/G] rs7667589 4 155009671 [A/C] rs4266272 4 155018810 [T/C] rs1878448 4 155027927 [A/G] rs17031151 4 155042470 [A/G] rs1574232 4 155057837 [A/C] rs10028852 4 155062069 [A/G] rs2404903 4 155071496 [A/G] rs4349583 4 155071789 [A/C] rs6813896 4 155083506 [A/G] exm2265884 4 155120463 [A/G] rs4385038 4 155135688 [A/G] variant.83111 4 155155720 [A/C] NM_017639 DCHS2 EXON Nonsense_E2907X exm429754 4 155155797 [A/G] NM_017639 DCHS2 EXON Missense_T2881M exm429764 4 155155914 [A/G] NM_017639 DCHS2 EXON Missense_P2842L variant.83113 4 155155996 [A/C] NM_017639 DCHS2 EXON Nonsense_E2815X exm429773 4 155156179 [G/C] NM_017639 DCHS2 EXON Missense_G2754R exm429775 4 155156212 [T/C] NM_017639 DCHS2 EXON Missense_A2743T exm429784 4 155156322 [T/C] NM_017639 DCHS2 EXON Missense_S2706N exm429797 4 155156542 [A/G] NM_017639 DCHS2 EXON Missense_H2633Y exm429799 4 155156598 [A/G] NM_017639 DCHS2 EXON Missense_P2614L exm429801 4 155156674 [A/G] NM_017639 DCHS2 EXON Missense_R2589W exm429802 4 155156706 [A/G] NM_017639 DCHS2 EXON Missense_T2578I exm429804 4 155156750 [T/A] NM_017639 DCHS2 EXON Missense_R2563S exm429809 4 155156875 [T/G] NM_017639 DCHS2 EXON Missense_N2522H exm429810 4 155156887 [A/T] NM_017639 DCHS2 EXON Missense_T2518S exm429813 4 155157015 [T/C] NM_017639 DCHS2 EXON Missense_K2475R indel.83117 4 155157113 [D/I] NM_017639 DCHS2 EXON exm429818 4 155157160 [T/G] NM_017639 DCHS2 EXON Missense_Q2427K indel.83119 4 155157202 [D/I] NM_017639 DCHS2 EXON indel.83120 4 155157310 [I/D] NM_017639 DCHS2 EXON exm429824 4 155157412 [T/C] NM_017639 DCHS2 EXON Missense_A2343T exm429826 4 155157504 [A/G] NM_017639 DCHS2 EXON Missense_P2312L exm429827 4 155157508 [T/C] NM_017639 DCHS2 EXON Missense_A2311T exm429830 4 155157531 [T/C] NM_017639 DCHS2 EXON Missense_S2303N exm429835 4 155157646 [T/C] NM_017639 DCHS2 EXON Missense_G2265R exm429838 4 155157729 [T/C] NM_017639 DCHS2 EXON Missense_R2237H exm429839 4 155157730 [A/G] NM_017639 DCHS2 EXON Missense_R2237C exm2256419 4 155157812 [A/G] NM_017639 DCHS2 EXON Synonymous_N2209N indel.83121 4 155157880 [I/D] NM_017639 DCHS2 EXON exm429853 4 155157961 [T/C] NM_017639 DCHS2 EXON Missense_G2160S exm429857 4 155158010 [T/A] NM_017639 DCHS2 EXON Missense_F2143L exm429862 4 155158081 [T/C] NM_017639 DCHS2 EXON Missense_D2120N exm429863 4 155158090 [A/C] NM_017639 DCHS2 EXON Missense_S2117A exm429864 4 155158104 [A/G] NM_017639 DCHS2 EXON Missense_T2112M exm429866 4 155158175 [T/G] NM_017639 DCHS2 EXON Missense_N2088K exm429871 4 155158284 [A/C] NM_017639 DCHS2 EXON Nonsense_L2052X var_4_155160424 4 155160424 [D/I] NM_017639 DCHS2 EXON exm429876 4 155160429 [A/G] NM_017639 DCHS2 EXON Missense_V2007A indel.83125 4 155161742 [D/I] NM_017639 DCHS2 EXON indel.83127 4 155161947 [I/D] NM_017639 DCHS2 EXON exm429888 4 155163829 [C/G] NM_017639 DCHS2 EXON Missense_A1891G exm429896 4 155176722 [T/C] NM_017639 DCHS2 EXON Missense_G1842D exm429898 4 155176771 [A/T] NM_017639 DCHS2 EXON Missense_I1826F exm429899 4 155176782 [A/T] NM_017639 DCHS2 EXON Missense_I1822N indel.83128 4 155176798 [I/D] NM_017639 DCHS2 EXON variant.83129 4 155180737 [T/G] NM_017639 DCHS2 EXON Nonsense_S1795X indel.83130 4 155180874 [I/D] NM_017639 DCHS2 EXON exm429903 4 155180890 [A/T] NM_017639 DCHS2 EXON Missense_E1744V variant.83131 4 155180891 [A/C] NM_017639 DCHS2 EXON Nonsense_E1744X rs3828478 4 155182784 [A/G] NM_017639 DCHS2 Silent exm429907 4 155191157 [T/C] NM_017639 DCHS2 EXON Missense_I1703V exm429908 4 155191162 [A/G] NM_017639 DCHS2 EXON Missense_T1701I rs4312742 4 155193398 [A/G] NM_017639 DCHS2 Silent variant.83133 4 155218998 [T/C] NM_017639 DCHS2 Silent exm429911 4 155219024 [T/C] NM_017639 DCHS2 EXON Missense_V1693M exm429918 4 155219185 [T/C] NM_017639 DCHS2 EXON Missense_Q1639R exm429919 4 155219231 [T/C] NM_017639 DCHS2 EXON Missense_E1624K exm429921 4 155219257 [T/C] NM_017639 DCHS2 EXON Missense_N1615S exm429922 4 155219276 [T/C] NM_017639 DCHS2 EXON Missense_D1609N exm429923 4 155219281 [A/G] NM_017639 DCHS2 EXON Missense_A1607V exm429931 4 155219338 [A/G] NM_017639 DCHS2 EXON Missense_F1588S rs17031387 4 155219361 [A/G] NM_017639 DCHS2 EXON Synonymous_D1580D rs17031391 4 155219373 [A/G] NM_017639 DCHS2 EXON Synonymous_V1576V indel.83134 4 155219443 [I/D] NM_017639 DCHS2 EXON exm429938 4 155219465 [A/G] NM_017639 DCHS2 EXON Missense_S1546P exm429939 4 155219467 [T/C] NM_017639 DCHS2 EXON Missense_R1545K exm429941 4 155219513 [T/C] NM_017639 DCHS2 EXON Missense_M1530V exm429943 4 155219540 [A/C] NM_017639 DCHS2 EXON Missense_A1521S exm429944 4 155219549 [T/G] NM_017639 DCHS2 EXON Missense_T1518P variant.83135 4 155219651 [A/G] NM_017639 DCHS2 EXON Nonsense_Q1484X exm429949 4 155219662 [C/G] NM_017639 DCHS2 EXON Missense_T1480R exm429950 4 155219720 [T/C] NM_017639 DCHS2 EXON Missense_V1461I exm429953 4 155219788 [A/C] NM_017639 DCHS2 EXON Missense_R1438L exm429954 4 155219789 [A/G] NM_017639 DCHS2 EXON Missense_R1438W exm2067875 4 155219852 [T/A] NM_017639 DCHS2 EXON Missense_T1417S var_4_155219861 4 155219861 [T/C] NM_017639 DCHS2 Silent exm429964 4 155225826 [A/G] NM_017639 DCHS2 EXON Missense_I1412T exm429965 4 155225839 [T/C] NM_017639 DCHS2 EXON Missense_V1408I exm429973 4 155225953 [T/G] NM_017639 DCHS2 EXON Missense_H1370N exm429975 4 155226021 [T/C] NM_017639 DCHS2 EXON Missense_R1347Q exm429976 4 155226252 [A/G] NM_017639 DCHS2 EXON Nonsense_R1343X rs4696546 4 155229324 [T/C] NM_017639 DCHS2 Silent newrs138394278 4 155241530 [T/C] NM_017639 DCHS2 Silent exm429990 4 155241572 [A/G] NM_017639 DCHS2 EXON Missense_S1205L rs11935573 4 155241572 [A/G] NM_017639 DCHS2 EXON Missense_S1205L exm429993 4 155241674 [A/G] NM_017639 DCHS2 EXON Missense_A1171V exm429995 4 155241735 [T/C] NM_017639 DCHS2 EXON Missense_A1151T exm429996 4 155241740 [A/G] NM_017639 DCHS2 EXON Missense_L1149P exm430008 4 155242011 [A/G] NM_017639 DCHS2 EXON Missense_L1059F exm430027 4 155243574 [A/G] NM_017639 DCHS2 EXON Missense_S907L exm430029 4 155243604 [T/C] NM_017639 DCHS2 EXON Missense_N897S variant.83142 4 155243642 [T/C] NM_017639 DCHS2 Silent rs12500437 4 155244475 [T/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Silent,Missense_P1342H exm430036 4 155244475 [T/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Silent,Missense_P1342H exm430039 4 155249289 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_P870L,Missense_P1325L exm430040 4 155249299 [G/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_A867P,Missense_A1322P indel.83143 4 155249340 [I/D] NM_017639,NM_001142552 DCHS2,DCHS2 EXON exm430044 4 155249343 [A/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_V852G,Missense_V1307G exm430048 4 155250701 [G/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_L843V,Missense_L1298V exm430052 4 155250749 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_V827I,Missense_V1282I exm430058 4 155252797 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_A768V,Silent rs4696548 4 155252934 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 Silent,Silent exm2067913 4 155253645 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_M740V,Missense_M1239V exm430065 4 155253754 [G/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_E703D,Missense_E1202D exm430071 4 155253964 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_M633I,Missense_M1132I exm430074 4 155254051 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_M604I,Missense_M1103I exm430078 4 155254146 [A/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_V573F,Missense_V1072F exm430091 4 155254355 [A/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_R503L,Missense_R1002L exm430096 4 155254428 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_A479T,Missense_A978T exm430103 4 155254512 [A/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_V451L,Missense_V950L exm430105 4 155254523 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_V447A,Missense_V946A exm430107 4 155254540 [G/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_H441Q,Missense_H940Q indel.83147 4 155254583 [I/D] NM_017639,NM_001142552 DCHS2,DCHS2 EXON exm2240576 4 155254589 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_S425F,Missense_S924F exm430114 4 155256049 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_I396T,Missense_I895T variant.83149 4 155256110 [A/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Nonsense_E376X,Nonsense_E875X exm430117 4 155256125 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_T371A,Missense_T870A exm2256422 4 155256183 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Synonymous_D351D,Synonymous_D850D exm430121 4 155256205 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_S344L,Missense_S843L exm430125 4 155256251 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_I329V,Missense_I828V rs4696207 4 155269388 [A/C] NM_017639,NM_001142552 DCHS2,DCHS2 Silent,Silent rs17031489 4 155273743 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 Silent,Silent variant.83150 4 155278371 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_K267R,Silent indel.83151 4 155278404 [I/D] NM_017639,NM_001142552 DCHS2,DCHS2 EXON rs951728 4 155285052 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 Silent,Silent exm430155 4 155287535 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_H174R,Missense_H768R exm430156 4 155287548 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_V170M,Missense_V764M exm430160 4 155295076 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_V153A,Silent exm430161 4 155295088 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_H149R,Silent exm430164 4 155298424 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_L136P,Missense_L742P indel.83152 4 155298452 [D/I] NM_017639,NM_001142552 DCHS2,DCHS2 EXON exm2240577 4 155298502 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_R110Q,Missense_R716Q exm430168 4 155298503 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_R110W,Missense_R716W exm430170 4 155298536 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_G99R,Missense_G705R rs13134088 4 155299483 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 Silent,Silent rs1388070 4 155300938 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 Silent,Silent exm-rs12651106 4 155301059 [A/C] NM_017639,NM_001142552 DCHS2,DCHS2 Silent,Silent exm430177 4 155305572 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_A61V,Silent rs10857274 4 155307426 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 Silent,Silent exm2256423 4 155312411 [A/G] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Synonymous_D13D,Silent exm430188 4 155312416 [T/C] NM_017639,NM_001142552 DCHS2,DCHS2 EXON Missense_E12K,Silent rs902464 4 155316122 [T/C] NM_001142552 DCHS2 Silent rs7686473 4 155319043 [A/G] NM_001142552 DCHS2 Silent rs11099953 4 155329567 [T/C] NM_001142552 DCHS2 Silent rs4550900 4 155331774 [T/C] NM_001142552 DCHS2 Silent rs6851087 4 155333714 [T/C] NM_001142552 DCHS2 Silent rs1466662 4 155347393 [T/A] NM_001142552 DCHS2 Silent rs10030235 4 155351627 [T/C] NM_001142552 DCHS2 Silent rs4696572 4 155354916 [T/C] NM_001142552 DCHS2 Silent rs1907155 4 155361244 [T/G] NM_001142552 DCHS2 Silent rs13146084 4 155364122 [T/C] NM_001142552 DCHS2 Silent rs13122913 4 155364486 [T/C] NM_001142552 DCHS2 Silent rs11731813 4 155379883 [A/G] NM_001142552 DCHS2 Silent rs4696584 4 155397517 [A/G] NM_001142552 DCHS2 Silent rs9284660 4 155403593 [A/C] NM_001142552 DCHS2 Silent exm430189 4 155407595 [A/C] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Silent,Missense_X710Y rs2404478 4 155408038 [T/C] NM_001142552,NM_001142553 DCHS2,DCHS2 Silent,Silent exm430196 4 155410650 [T/C] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_T620A,Missense_T620A exm430197 4 155410667 [A/G] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_A614V,Missense_A614V exm430206 4 155410926 [A/G] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_R528W,Missense_R528W rs6536016 4 155411104 [A/C] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Synonymous_S468S,Synonymous_S468S exm430211 4 155411234 [A/C] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_R425L,Missense_R425L exm430221 4 155411858 [T/G] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_A217E,Missense_A217E exm430223 4 155411883 [A/G] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_P209S,Missense_P209S exm430224 4 155411939 [A/C] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_V190G,Missense_V190G exm430225 4 155411948 [A/C] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_R187L,Missense_R187L exm430232 4 155412141 [A/C] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_G123C,Missense_G123C exm430235 4 155412444 [A/G] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_L22F,Missense_L22F exm430237 4 155412464 [T/C] NM_001142552,NM_001142553 DCHS2,DCHS2 EXON Missense_R15Q,Missense_R15Q rs13132637 4 155413510 [T/C] rs17031739 4 155414923 [A/G] rs10014500 4 155420487 [A/G] rs4323084 4 155424231 [T/C] rs4235247 4 155438339 [A/G] rs11737226 4 155442246 [A/G] rs10008078 4 155448553 [A/G] rs7689945 4 155449629 [T/C] exm-rs12511469 4 155451759 [A/T] variant.83157 4 155458438 [A/G] NM_001201564,NM_002669 PLRG1,PLRG1 EXON Synonymous_A486A,Synonymous_A495A exm430243 4 155458569 [T/C] NM_001201564,NM_002669 PLRG1,PLRG1 EXON Missense_A443T,Missense_A452T exm430247 4 155458612 [T/A] NM_001201564,NM_002669 PLRG1,PLRG1 EXON Missense_H428Q,Missense_H437Q exm430257 4 155461175 [A/G] NM_001201564,NM_002669 PLRG1,PLRG1 EXON Missense_H315Y,Missense_H324Y variant.83158 4 155461741 [T/C] NM_001201564,NM_002669 PLRG1,PLRG1 Silent,Silent exm430270 4 155465644 [C/G] NM_001201564,NM_002669 PLRG1,PLRG1 EXON Missense_P174A,Missense_P183A exm430281 4 155467330 [T/G] NM_001201564,NM_002669 PLRG1,PLRG1 EXON Missense_M108L,Missense_M117L indel.83160 4 155467362 [D/I] NM_001201564,NM_002669 PLRG1,PLRG1 EXON exm430290 4 155468902 [T/A] NM_001201564,NM_002669 PLRG1,PLRG1 EXON Missense_T74S,Missense_T74S rs4508864 4 155481289 [T/C] exm-rs1800789 4 155482743 [A/G] exm-rs1800788 4 155483914 [T/C] exm430300 4 155484174 [A/G] NM_005141,NM_001184741 FGB,FGB EXON Missense_K2E,Missense_K2E newrs121909625 4 155486984 [T/C] NM_005141,NM_001184741 FGB,FGB EXON Nonsense_R47X,Nonsense_R47X newrs144972538 4 155487060 [A/G] NM_005141,NM_001184741 FGB,FGB EXON Missense_R72Q,Silent variant.83164 4 155487061 [A/G] NM_005141,NM_001184741 FGB,FGB EXON Synonymous_R72R,Silent exm430313 4 155487143 [T/C] NM_005141,NM_001184741 FGB,FGB EXON Missense_P100S,Silent exm430316 4 155487644 [A/G] NM_005141,NM_001184741 FGB,FGB EXON Missense_V104M,Silent exm430320 4 155487701 [A/G] NM_005141,NM_001184741 FGB,FGB EXON Missense_I123V,Missense_I64V exm430322 4 155487810 [T/A] NM_005141,NM_001184741 FGB,FGB EXON Missense_Q159L,Missense_Q100L exm430329 4 155488788 [C/G] NM_005141,NM_001184741 FGB,FGB EXON Missense_K178N,Missense_K119N exm-rs6056 4 155488821 [T/C] NM_005141,NM_001184741 FGB,FGB EXON Synonymous_S189S,Synonymous_S130S exm430337 4 155488936 [A/G] NM_005141,NM_001184741 FGB,FGB EXON Missense_T228A,Missense_T169A exm430340 4 155489608 [T/C] NM_005141,NM_001184741 FGB,FGB EXON Missense_P265L,Missense_P206L var_4_155489611 4 155489611 [A/G] NM_005141,NM_001184741 FGB,FGB EXON Missense_Y266C,Missense_Y207C exm430347 4 155490434 [T/G] NM_005141,NM_001184741 FGB,FGB EXON Missense_D311E,Missense_D252E variant.83167 4 155490791 [T/C] NM_005141,NM_001184741 FGB,FGB EXON Nonsense_Q362X,Nonsense_Q303X var_4_155491618 4 155491618 [T/G] NM_005141,NM_001184741 FGB,FGB EXON Missense_G431V,Missense_G372V variant.83169 4 155491735 [A/G] NM_005141,NM_001184741 FGB,FGB EXON Nonsense_W470X,Nonsense_W411X exm430371 4 155491759 [A/G] NM_005141,NM_001184741 FGB,FGB EXON Missense_R478K,Missense_R419K rs2227421 4 155492224 [A/C] NM_005141,NM_001184741 FGB,FGB EXON Silent,Silent newrs140202402 4 155505349 [T/C] NM_000508 FGA EXON Nonsense_W843X exm430382 4 155505592 [A/G] NM_000508 FGA EXON Missense_A762V exm430386 4 155505692 [G/C] NM_000508 FGA EXON Missense_E729Q indel.83175 4 155505970 [D/I] NM_000508 FGA EXON newrs78506343 4 155506863 [T/C] NM_000508,NM_021871 FGA,FGA EXON Missense_R573H,Missense_R573H exm2256424 4 155507039 [A/G] NM_000508,NM_021871 FGA,FGA EXON Synonymous_P514P,Synonymous_P514P exm430410 4 155507137 [T/C] NM_000508,NM_021871 FGA,FGA EXON Missense_V482M,Missense_V482M exm430411 4 155507164 [T/C] NM_000508,NM_021871 FGA,FGA EXON Missense_D473N,Missense_D473N exm430414 4 155507215 [T/C] NM_000508,NM_021871 FGA,FGA EXON Missense_T456A,Missense_T456A exm2068025 4 155507382 [A/G] NM_000508,NM_021871 FGA,FGA EXON Missense_S400F,Missense_S400F variant.83181 4 155509944 [T/C] NM_000508,NM_021871 FGA,FGA Silent,Silent exm430466 4 155510046 [A/T] NM_000508,NM_021871 FGA,FGA EXON Missense_L88H,Missense_L88H exm430467 4 155510065 [T/G] NM_000508,NM_021871 FGA,FGA EXON Missense_T82P,Missense_T82P rs2070016 4 155510314 [A/G] NM_000508,NM_021871 FGA,FGA Silent,Silent indel.83185 4 155510652 [I/D] NM_000508,NM_021871 FGA,FGA EXON exm430473 4 155511824 [T/C] NM_000508,NM_021871 FGA,FGA EXON Missense_I6V,Missense_I6V exm430477 4 155511897 [T/C] NM_000508,NM_021871 FGA,FGA EXON Silent,Silent rs2070011 4 155511897 [T/C] NM_000508,NM_021871 FGA,FGA EXON Silent,Silent exm-rs13109457 4 155514879 [A/G] rs7659024 4 155520930 [A/G] rs1049636 4 155525970 [A/G] NM_000509,NM_021870 FGG,FGG EXON Silent,Silent exm430488 4 155526029 [A/G] NM_000509,NM_021870 FGG,FGG EXON Silent,Missense_A440V variant.83186 4 155527852 [T/C] NM_000509,NM_021870 FGG,FGG Silent,Silent exm430494 4 155527887 [T/C] NM_000509,NM_021870 FGG,FGG EXON Missense_A367T,Missense_A367T exm430498 4 155528064 [T/C] NM_000509,NM_021870 FGG,FGG EXON Missense_A308T,Missense_A308T var_4_155529674 4 155529674 [A/C] NM_000509,NM_021870 FGG,FGG EXON Missense_Q265H,Missense_Q265H exm430504 4 155529735 [A/G] NM_000509,NM_021870 FGG,FGG EXON Missense_S245F,Missense_S245F variant.83190 4 155530797 [T/C] NM_000509,NM_021870 FGG,FGG EXON Nonsense_W217X,Nonsense_W217X exm430510 4 155530877 [T/C] NM_000509,NM_021870 FGG,FGG EXON Missense_G191R,Missense_G191R exm430518 4 155531333 [A/G] NM_000509,NM_021870 FGG,FGG EXON Missense_Y140H,Missense_Y140H exm430521 4 155533035 [C/G] NM_000509,NM_021870 FGG,FGG EXON Missense_A108G,Missense_A108G exm430527 4 155533288 [C/G] NM_000509,NM_021870 FGG,FGG EXON Missense_D63E,Missense_D63E exm430529 4 155533337 [A/G] NM_000509,NM_021870 FGG,FGG EXON Missense_T47I,Missense_T47I exm430530 4 155533353 [T/C] NM_000509,NM_021870 FGG,FGG EXON Missense_G42S,Missense_G42S newrs141554929 4 155533543 [A/G] NM_000509,NM_021870 FGG,FGG EXON Synonymous_F41F,Synonymous_F41F rs1800792 4 155534408 [T/C] exm-rs7681423 4 155542248 [T/C] rs1074801 4 155576284 [A/C] rs6828439 4 155580418 [T/C] rs10011108 4 155590060 [A/C] rs1546370 4 155632606 [T/C] rs727153 4 155654421 [T/C] exm-rs727153 4 155654421 [T/C] exm430545 4 155665552 [T/A] NM_004744 LRAT EXON Missense_F25Y exm430555 4 155665876 [A/C] NM_004744 LRAT EXON Missense_K133T exm430556 4 155665881 [T/G] NM_004744 LRAT EXON Missense_A135S rs201824 4 155668710 [A/G] NM_004744 LRAT Silent exm430562 4 155670206 [T/C] NM_004744 LRAT EXON Missense_A204V rs17032000 4 155672958 [T/G] NM_004744 LRAT EXON Silent rs156501 4 155678345 [T/C] rs156550 4 155705144 [A/C] NM_144979 RBM46 Silent exm430578 4 155719189 [T/G] NM_144979 RBM46 EXON Missense_I126M exm430581 4 155719287 [A/G] NM_144979 RBM46 EXON Missense_D159G rs12651031 4 155720349 [A/C] NM_144979 RBM46 EXON Synonymous_G345G exm430602 4 155720372 [A/G] NM_144979 RBM46 EXON Missense_R353H exm430603 4 155720399 [T/C] NM_144979 RBM46 EXON Missense_P362L exm430608 4 155720617 [A/G] NM_144979 RBM46 EXON Missense_I435V newrs144413126 4 155720716 [T/G] NM_144979 RBM46 EXON Missense_D468Y rs7691720 4 155739051 [A/G] NM_144979 RBM46 Silent rs156569 4 155742865 [T/G] NM_144979 RBM46 Silent exm430618 4 155749077 [T/C] NM_144979 RBM46 EXON Missense_S487F exm430620 4 155749134 [A/G] NM_144979 RBM46 EXON Missense_Y506C exm430621 4 155749205 [T/G] NM_144979 RBM46 EXON Missense_A530S exm430623 4 155749212 [T/C] NM_144979 RBM46 EXON Missense_F532S rs17302908 4 155764635 [T/C] rs4449396 4 155766258 [T/C] rs4696608 4 155773993 [A/G] rs6536031 4 155777542 [A/G] rs1559689 4 155778844 [T/C] rs1392554 4 155780165 [T/C] rs1500387 4 155786387 [A/G] rs17032154 4 155794261 [T/C] rs6813070 4 155794591 [T/G] rs17032180 4 155803664 [A/G] exm2265779 4 155804083 [A/G] rs1343937 4 155811101 [T/C] rs2404198 4 155811145 [T/C] rs17032207 4 155820246 [A/C] rs10033629 4 155826061 [A/G] rs2896784 4 155833011 [A/G] rs12498703 4 155854976 [A/G] rs4691329 4 155861540 [A/C] rs2124656 4 155867729 [A/G] rs11729306 4 155914904 [T/C] rs10517612 4 155926051 [T/C] rs1456459 4 155927800 [A/G] rs6829756 4 155932934 [T/C] rs11099970 4 155933753 [T/C] rs10009064 4 155938012 [T/C] rs7656217 4 155951509 [A/G] rs10020550 4 155957348 [A/G] rs1378964 4 155960819 [A/G] rs1869966 4 155979144 [A/G] rs7668866 4 155985107 [T/C] rs6832923 4 155989391 [T/C] rs11735554 4 155995373 [A/G] rs17032433 4 156007879 [T/C] rs6826870 4 156018884 [A/C] rs12650515 4 156038542 [A/C] rs10027655 4 156055961 [T/G] rs4323056 4 156057352 [A/G] rs9790645 4 156081675 [A/G] rs17376560 4 156083037 [T/C] rs10030872 4 156087185 [T/C] rs1317400 4 156091935 [T/C] rs2880414 4 156093651 [A/C] rs10517606 4 156112853 [T/G] rs13152353 4 156115288 [A/G] rs11941004 4 156122449 [T/C] rs13120088 4 156123035 [A/G] rs6849115 4 156124223 [T/C] variant.83200 4 156135149 [T/G] NM_000910 NPY2R EXON Nonsense_E20X exm2068120 4 156135155 [T/C] NM_000910 NPY2R EXON Missense_Y22H exm430637 4 156135350 [T/A] NM_000910 NPY2R EXON Missense_F87I indel.83201 4 156135357 [I/D] NM_000910 NPY2R EXON exm2068123 4 156135605 [A/G] NM_000910 NPY2R EXON Missense_A172T exm430648 4 156135621 [T/C] NM_000910 NPY2R EXON Missense_A177V rs1047214 4 156135676 [T/C] NM_000910 NPY2R EXON Synonymous_I195I 1KG_4_156135773 4 156135773 [D/I] NM_000910 NPY2R EXON exm430670 4 156136125 [A/G] NM_000910 NPY2R EXON Missense_R345Q exm430672 4 156136138 [T/G] NM_000910 NPY2R EXON Missense_I349M exm430674 4 156136154 [A/G] NM_000910 NPY2R EXON Missense_V355M rs6846703 4 156139467 [A/G] rs2342654 4 156149811 [A/G] rs2342649 4 156154314 [A/G] rs9991730 4 156159411 [T/C] rs11099996 4 156174594 [T/C] rs991097 4 156189953 [T/C] rs35125259 4 156200509 [A/G] rs17032749 4 156214234 [T/G] rs1078275 4 156216726 [T/G] rs11726054 4 156237313 [T/C] rs750068 4 156245641 [A/G] variant.83202 4 156269021 [A/G] NM_001039580 MAP9 EXON Nonsense_Q620X exm430685 4 156269027 [A/G] NM_001039580 MAP9 EXON Nonsense_R618X exm430688 4 156273768 [T/C] NM_001039580 MAP9 EXON Missense_N601D exm430691 4 156274109 [G/C] NM_001039580 MAP9 EXON Missense_T548S indel.83210 4 156274151 [D/I] NM_001039580 MAP9 EXON exm430693 4 156274377 [T/C] NM_001039580 MAP9 EXON Missense_K499R exm430704 4 156276986 [A/G] NM_001039580 MAP9 EXON Missense_P391L exm2068153 4 156277017 [A/G] NM_001039580 MAP9 EXON Synonymous_L381L exm430707 4 156278635 [A/G] NM_001039580 MAP9 EXON Missense_S363P indel.83215 4 156281359 [I/D] NM_001039580 MAP9 EXON rs17032893 4 156281371 [T/C] NM_001039580 MAP9 EXON Synonymous_L333L exm430711 4 156281375 [A/G] NM_001039580 MAP9 EXON Missense_L332P exm430718 4 156281490 [T/G] NM_001039580 MAP9 EXON Missense_H294N exm430720 4 156283212 [T/C] NM_001039580 MAP9 EXON Missense_A264T exm430727 4 156283281 [T/C] NM_001039580 MAP9 EXON Missense_T241A rs6842102 4 156285170 [A/C] NM_001039580 MAP9 Silent exm430731 4 156289765 [T/A] NM_001039580 MAP9 EXON Missense_K227N exm2068164 4 156289784 [T/C] NM_001039580 MAP9 EXON Missense_Q221R exm430732 4 156289787 [A/G] NM_001039580 MAP9 EXON Missense_I220T exm430734 4 156289803 [T/G] NM_001039580 MAP9 EXON Missense_P215T rs3733390 4 156289900 [T/C] NM_001039580 MAP9 EXON Synonymous_L182L exm430740 4 156289917 [A/G] NM_001039580 MAP9 EXON Missense_R177W rs3733391 4 156289917 [A/G] NM_001039580 MAP9 EXON Missense_R177W exm430747 4 156294333 [T/C] NM_001039580 MAP9 EXON Missense_M146V exm430748 4 156294338 [A/T] NM_001039580 MAP9 EXON Missense_I144K exm430749 4 156294339 [T/C] NM_001039580 MAP9 EXON Missense_I144V exm430759 4 156294480 [A/G] NM_001039580 MAP9 EXON Missense_S97P exm430763 4 156294610 [T/G] NM_001039580 MAP9 Silent indel.83220 4 156296142 [D/I] NM_001039580 MAP9 EXON exm430766 4 156296155 [T/C] NM_001039580 MAP9 EXON Missense_I32V exm430772 4 156296996 [C/G] NM_001039580 MAP9 EXON Missense_D3H exm2264103 4 156299620 [A/C] rs3775255 4 156300040 [T/C] rs7663620 4 156311510 [A/G] rs17032951 4 156313601 [A/G] rs6847136 4 156321133 [A/G] rs1460128 4 156325539 [T/C] rs4690966 4 156353245 [A/G] rs4691631 4 156355515 [T/C] rs10011085 4 156380439 [A/G] exm2256426 4 156380807 [T/G] rs12643194 4 156383288 [A/G] rs17377936 4 156387831 [T/C] rs1517293 4 156393197 [A/G] rs7442312 4 156399607 [A/C] rs17033050 4 156401693 [A/G] exm-rs7677803 4 156409087 [A/G] rs1155097 4 156414715 [A/G] rs7440928 4 156434164 [A/C] rs13124618 4 156442666 [T/C] rs1400623 4 156443877 [A/C] rs2138741 4 156455542 [T/G] rs7671138 4 156460954 [A/G] rs10016993 4 156470555 [A/G] rs2879909 4 156484198 [A/G] rs1032051 4 156499985 [A/G] rs1483041 4 156503440 [A/G] rs1842896 4 156511459 [T/G] rs1466516 4 156517289 [T/C] rs13110106 4 156523316 [T/G] rs7680331 4 156540258 [A/G] rs727773 4 156550942 [T/C] rs2705434 4 156558695 [A/C] rs4691036 4 156561632 [A/G] rs2128650 4 156563407 [T/C] rs2705441 4 156580768 [T/G] rs11722434 4 156584397 [T/C] rs3806776 4 156586804 [T/C] rs3806777 4 156586949 [T/C] rs7685675 4 156598385 [A/G] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2625276 4 156600197 [T/C] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7658967 4 156607143 [A/G] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2101180 4 156614954 [A/G] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2306557 4 156617994 [A/G] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.83221 4 156618002 [T/G] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm430781 4 156618092 [A/G] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Missense_V25I,Missense_V25I,Missense_V25I,Missense_V25I,Missense_V25I,Silent,Missense_V25I exm430785 4 156618176 [A/G] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Missense_K53E,Missense_K53E,Missense_K53E,Missense_K53E,Missense_K53E,Silent,Missense_K53E exm430786 4 156618189 [A/C] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Missense_E57A,Missense_E57A,Missense_E57A,Missense_E57A,Missense_E57A,Silent,Missense_E57A exm430806 4 156631711 [A/G] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Missense_I132V,Missense_I132V,Missense_I132V,Missense_I132V,Missense_I132V,Silent,Missense_I132V variant.83224 4 156632404 [T/G] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.83225 4 156632405 [T/C] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10019835 4 156633186 [T/C] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.83227 4 156634316 [D/I] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON variant.83228 4 156634421 [T/C] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Nonsense_R420X,Nonsense_R420X,Nonsense_R420X,Nonsense_R420X,Nonsense_R420X,Nonsense_R185X,Nonsense_R420X exm-rs7692387 4 156635309 [A/G] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent newrs112384014 4 156638325 [T/C] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Synonymous_G529G,Synonymous_G529G,Synonymous_G529G,Synonymous_G529G,Synonymous_G529G,Synonymous_G294G,Synonymous_G529G rs2306556 4 156638573 [A/G] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3796585 4 156639174 [A/G] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm430874 4 156643302 [A/G] NM_001130687,NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Missense_C610Y,Missense_C610Y,Missense_C610Y,Missense_C610Y,Missense_C610Y,Missense_C375Y,Missense_C610Y rs9993460 4 156644655 [T/C] NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 Silent,Silent,Silent,Silent,Silent,Silent rs13139571 4 156645513 [A/C] NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 Silent,Silent,Silent,Silent,Silent,Silent rs3796579 4 156648354 [A/G] NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 Silent,Silent,Silent,Silent,Silent,Silent exm430881 4 156651207 [A/G] NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Missense_V633M,Missense_V633M,Missense_V633M,Missense_V633M,Missense_V398M,Missense_V633M exm430886 4 156651274 [A/G] NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Missense_H655R,Missense_H655R,Missense_H655R,Missense_H655R,Missense_H420R,Missense_H655R exm2240596 4 156651348 [A/G] NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Missense_A680T,Missense_A680T,Missense_A680T,Missense_A680T,Missense_A445T,Missense_A680T rs7435347 4 156654735 [A/G] NM_001130682,NM_000856,NM_001256449,NM_001130683,NM_001130685,NM_001130684 GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3,GUCY1A3 EXON Silent,Silent,Silent,Silent,Silent,Silent rs4691073 4 156671888 [A/G] rs6838513 4 156672159 [T/C] rs6838946 4 156675369 [A/G] rs10517621 4 156677592 [T/C] rs1563806 4 156692818 [T/G] NM_000857 GUCY1B3 Silent exm430901 4 156698677 [A/T] NM_000857 GUCY1B3 EXON Missense_N60K rs7661128 4 156713031 [A/G] NM_000857 GUCY1B3 Silent variant.83232 4 156717527 [A/G] NM_000857 GUCY1B3 Silent exm430925 4 156721226 [T/C] NM_000857 GUCY1B3 EXON Missense_T392I indel.83234 4 156723710 [I/D] NM_000857 GUCY1B3 EXON exm430935 4 156724843 [A/G] NM_000857 GUCY1B3 EXON Missense_R494Q indel.83235 4 156726334 [D/I] NM_000857 GUCY1B3 EXON rs17033572 4 156727377 [A/C] NM_000857 GUCY1B3 Silent exm430951 4 156751055 [G/C] NM_017419 ASIC5 EXON Missense_P491A exm430952 4 156751082 [T/C] NM_017419 ASIC5 EXON Missense_I482V exm430955 4 156751129 [T/C] NM_017419 ASIC5 EXON Missense_Y466C exm430958 4 156752977 [A/G] NM_017419 ASIC5 EXON Synonymous_L442L exm430961 4 156752999 [A/G] NM_017419 ASIC5 EXON Missense_A435V variant.83238 4 156753009 [A/G] NM_017419 ASIC5 EXON Nonsense_Q432X exm430962 4 156753017 [A/T] NM_017419 ASIC5 EXON Missense_I429K rs9992550 4 156758741 [T/C] NM_017419 ASIC5 Silent exm430984 4 156763434 [A/T] NM_017419 ASIC5 EXON Missense_T312S exm430990 4 156764844 [A/G] NM_017419 ASIC5 EXON Missense_R284C exm430995 4 156764904 [T/G] NM_017419 ASIC5 EXON Missense_P264T exm430997 4 156764932 [C/G] NM_017419 ASIC5 EXON Missense_I254M exm430999 4 156764954 [T/C] NM_017419 ASIC5 EXON Missense_G247D rs1563804 4 156772468 [T/C] NM_017419 ASIC5 Silent variant.83241 4 156773343 [T/C] NM_017419 ASIC5 EXON Synonymous_Q237Q exm431009 4 156773446 [T/G] NM_017419 ASIC5 EXON Missense_E203A exm2068302 4 156775452 [A/G] NM_017419 ASIC5 EXON Missense_A121V exm431021 4 156784660 [A/G] NM_017419 ASIC5 EXON Missense_I96T exm431023 4 156784667 [T/C] NM_017419 ASIC5 EXON Missense_T94A exm431027 4 156784699 [T/C] NM_017419 ASIC5 EXON Missense_R83H exm431029 4 156784709 [A/T] NM_017419 ASIC5 EXON Missense_I80F exm431031 4 156784765 [T/C] NM_017419 ASIC5 EXON Missense_R61H exm431034 4 156784847 [A/G] NM_017419 ASIC5 EXON Nonsense_R34X exm431038 4 156784882 [A/C] NM_017419 ASIC5 EXON Missense_C22F rs6848883 4 156787340 [A/G] NM_017419 ASIC5 EXON Synonymous_N13N exm431042 4 156787340 [A/G] NM_017419 ASIC5 EXON Synonymous_N13N exm431043 4 156787368 [A/G] NM_017419 ASIC5 EXON Missense_T4I exm431044 4 156787369 [T/C] NM_017419 ASIC5 EXON Missense_T4A exm431050 4 156824932 [T/G] NM_005651 TDO2 EXON Nonsense_G8X indel.83246 4 156825188 [D/I] NM_005651 TDO2 EXON exm431055 4 156825203 [A/C] NM_005651 TDO2 EXON Missense_S23R indel.83247 4 156825218 [I/D] NM_005651 TDO2 EXON indel.83248 4 156825237 [D/I] NM_005651 TDO2 EXON variant.83249 4 156828873 [A/G] NM_005651 TDO2 Silent exm2240598 4 156828921 [T/C] NM_005651 TDO2 EXON Nonsense_R94X indel.83251 4 156830051 [D/I] NM_005651 TDO2 EXON exm431069 4 156830090 [T/C] NM_005651 TDO2 EXON Missense_S119P indel.83252 4 156831183 [I/D] NM_005651 TDO2 EXON exm431073 4 156831299 [A/G] NM_005651 TDO2 EXON Missense_K185R exm431074 4 156831302 [A/G] NM_005651 TDO2 EXON Missense_G186E exm431077 4 156832715 [A/C] NM_005651 TDO2 EXON Missense_N229H exm431094 4 156838597 [A/C] NM_005651 TDO2 EXON Missense_D316A exm431096 4 156839348 [A/G] NM_005651 TDO2 EXON Missense_T342A exm431097 4 156839352 [A/G] NM_005651 TDO2 EXON Missense_G343D variant.83255 4 156839378 [T/C] NM_005651 TDO2 EXON Nonsense_R352X exm431103 4 156841062 [T/A] NM_005651 TDO2 EXON Missense_M381L rs9044 4 156846087 [A/G] NM_001334 CTSO EXON Silent exm2068330 4 156847222 [T/C] NM_001334 CTSO EXON Missense_G311D newrs142851384 4 156850783 [T/C] NM_001334 CTSO EXON Nonsense_W250X exm431119 4 156850822 [A/G] NM_001334 CTSO EXON Missense_T237I rs12510557 4 156855433 [A/G] NM_001334 CTSO Silent rs7684248 4 156860391 [T/C] NM_001334 CTSO Silent variant.83258 4 156860522 [A/C] NM_001334 CTSO Silent variant.83259 4 156860618 [A/C] NM_001334 CTSO EXON Nonsense_E153X rs13128318 4 156863252 [T/C] NM_001334 CTSO Silent variant.83260 4 156863468 [A/C] NM_001334 CTSO Silent exm431137 4 156863469 [T/C] NM_001334 CTSO EXON Missense_M128I exm431143 4 156863571 [A/T] NM_001334 CTSO EXON Missense_R94S exm431146 4 156864359 [T/C] NM_001334 CTSO EXON Missense_A65T variant.83262 4 156864398 [A/G] NM_001334 CTSO EXON Nonsense_R52X rs10019161 4 156865486 [A/C] NM_001334 CTSO Silent rs13108041 4 156885169 [T/C] rs1355874 4 156906461 [T/C] rs4358343 4 156918475 [T/G] rs11939710 4 156930971 [T/C] rs11939830 4 156931181 [T/G] rs7683170 4 156947188 [A/C] rs11941518 4 156950378 [A/G] rs4691233 4 156954890 [A/G] rs4691238 4 156963692 [A/G] rs6826026 4 156974697 [A/G] rs6845616 4 156988133 [A/C] rs11722256 4 156994724 [T/G] exm-rs4234898 4 156998541 [T/C] rs11100040 4 157006954 [T/C] rs13117709 4 157008429 [A/G] rs4555581 4 157014586 [T/C] rs4437204 4 157021404 [A/G] rs13143174 4 157022492 [T/G] exm2264072 4 157030680 [A/C] rs4558821 4 157030680 [A/C] rs4690853 4 157034642 [T/G] exm2261640 4 157050382 [A/C] rs7661151 4 157065076 [T/C] rs6419277 4 157067528 [T/C] rs10016298 4 157068585 [T/C] rs17380673 4 157089145 [T/C] rs5027023 4 157089605 [A/C] rs4129759 4 157096990 [T/C] rs7676050 4 157098758 [A/G] rs17034196 4 157116213 [A/G] rs13103675 4 157124728 [A/G] rs2340252 4 157129218 [T/G] rs13102097 4 157131028 [A/G] rs4600965 4 157144661 [A/G] rs10517634 4 157145352 [T/C] rs4691312 4 157146395 [A/C] rs13112531 4 157150175 [A/G] rs6833995 4 157152021 [T/C] rs2879724 4 157158799 [T/C] rs6536158 4 157160921 [T/C] rs7700147 4 157167891 [T/C] rs4440278 4 157171078 [A/G] rs2340254 4 157171201 [T/C] rs7668315 4 157190788 [A/G] rs4690859 4 157197353 [T/C] rs2220585 4 157213766 [A/G] rs10030326 4 157235050 [A/G] rs1352703 4 157244229 [T/G] rs13103662 4 157249803 [T/C] rs2046876 4 157264625 [A/C] rs10021338 4 157267440 [A/G] rs7692934 4 157295245 [A/G] rs2340289 4 157295801 [A/G] rs6536171 4 157306101 [A/G] rs17034515 4 157317266 [A/G] rs13149529 4 157324100 [T/C] rs7670864 4 157328376 [A/G] rs10517637 4 157342073 [A/G] exm2256428 4 157344783 [T/G] rs6818354 4 157345022 [A/G] rs17034575 4 157349944 [A/G] rs10517636 4 157351242 [T/C] rs6536176 4 157352057 [A/G] rs7669823 4 157363709 [A/G] rs11938052 4 157371613 [A/G] rs9997210 4 157372570 [A/C] rs1352701 4 157380782 [T/C] rs10021375 4 157385298 [T/C] rs937068 4 157398759 [A/G] rs13150416 4 157403221 [T/C] rs13435328 4 157405224 [T/C] rs1123714 4 157409735 [T/C] rs13106670 4 157420901 [A/C] rs6850881 4 157433970 [T/C] rs7694359 4 157437970 [T/C] rs34455702 4 157448161 [A/C] rs1402787 4 157449015 [A/C] rs1402788 4 157449136 [A/C] rs10517643 4 157450822 [A/G] rs6832535 4 157459397 [T/C] rs1521710 4 157466506 [A/G] rs6536193 4 157484641 [A/C] rs1608012 4 157492586 [A/G] rs1915779 4 157493658 [A/C] rs28648624 4 157512342 [T/C] rs4569797 4 157517071 [T/G] rs1521717 4 157533294 [T/C] rs6811244 4 157535527 [T/C] rs1521724 4 157545843 [T/C] rs8180255 4 157548520 [A/G] rs2342141 4 157548539 [A/C] rs4690871 4 157557522 [A/G] rs11943855 4 157557726 [A/G] rs10005090 4 157563569 [T/C] rs9998752 4 157568858 [A/G] rs1521716 4 157586380 [A/C] rs7689414 4 157608245 [T/C] rs1996770 4 157615583 [T/C] rs9307949 4 157626640 [T/C] rs9307950 4 157633839 [A/G] rs2194868 4 157643986 [A/G] rs10012388 4 157662111 [T/C] rs6855363 4 157670537 [T/C] exm431168 4 157694009 [C/G] NM_016205,NR_036641 PDGFC,PDGFC EXON Missense_P178A,Silent rs4691377 4 157694651 [T/C] NM_016205,NR_036641 PDGFC,PDGFC Silent,Silent rs6834932 4 157711526 [A/G] NM_016205,NR_036641 PDGFC,PDGFC Silent,Silent rs17035257 4 157715062 [T/C] NM_016205,NR_036641 PDGFC,PDGFC Silent,Silent exm-rs4691380 4 157720124 [T/C] NM_016205,NR_036641 PDGFC,PDGFC Silent,Silent rs10019565 4 157728165 [A/G] NM_016205,NR_036641 PDGFC,PDGFC Silent,Silent exm-rs6822892 4 157734675 [A/G] NM_016205,NR_036641 PDGFC,PDGFC Silent,Silent rs2974254 4 157771062 [T/G] NM_016205,NR_036641 PDGFC,PDGFC Silent,Silent rs7682857 4 157776293 [T/C] NM_016205,NR_036641 PDGFC,PDGFC Silent,Silent rs17035367 4 157786225 [A/G] NM_016205,NR_036641 PDGFC,PDGFC Silent,Silent rs342317 4 157789987 [T/C] NM_016205,NR_036641 PDGFC,PDGFC Silent,Silent rs342308 4 157797342 [A/G] NM_016205,NR_036641 PDGFC,PDGFC Silent,Silent rs11728198 4 157825397 [A/G] NM_016205,NR_036641 PDGFC,PDGFC Silent,Silent rs10517660 4 157842396 [A/G] NM_016205,NR_036641 PDGFC,PDGFC Silent,Silent rs6811767 4 157845568 [A/G] NM_016205,NR_036641 PDGFC,PDGFC Silent,Silent exm2265780 4 157884105 [A/G] NM_016205,NR_036641 PDGFC,PDGFC Silent,Silent rs6845322 4 157884105 [A/G] NM_016205,NR_036641 PDGFC,PDGFC Silent,Silent rs6811213 4 157886145 [A/G] NM_016205,NR_036641 PDGFC,PDGFC Silent,Silent exm431177 4 157891943 [T/C] NM_016205,NR_036641 PDGFC,PDGFC EXON Missense_Q38R,Silent exm431179 4 157891963 [A/C] NM_016205,NR_036641 PDGFC,PDGFC EXON Missense_Q31H,Silent rs1015540 4 157914261 [T/C] rs11723576 4 157916511 [A/G] rs1443230 4 157921480 [A/G] exm2265885 4 157931688 [A/G] rs11100086 4 157936643 [T/C] rs765986 4 157940550 [T/C] rs4691389 4 157959931 [A/G] rs11100087 4 157965879 [A/G] rs2343744 4 157966554 [A/G] rs2343753 4 157980872 [T/C] rs4690875 4 157994894 [T/C] exm431188 4 157999268 [A/G] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB EXON Missense_K31R,Missense_K31R,Missense_K31R exm431191 4 157999297 [T/C] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB EXON Missense_S41P,Missense_S41P,Missense_S41P rs6852066 4 158002896 [T/C] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB Silent,Silent,Silent rs11100096 4 158036110 [A/G] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB Silent,Silent,Silent rs7654841 4 158051335 [T/C] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB Silent,Silent,Silent rs7655209 4 158051385 [A/G] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB Silent,Silent,Silent exm2256430 4 158057746 [T/C] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB EXON Synonymous_P141P,Synonymous_P141P,Synonymous_P141P indel.83265 4 158057772 [D/I] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB EXON variant.83266 4 158059984 [T/C] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB EXON Nonsense_R212X,Nonsense_R212X,Nonsense_R212X rs3775721 4 158064484 [T/G] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB Silent,Silent,Silent exm431245 4 158074098 [A/G] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB EXON Missense_G378E,Silent,Missense_G378E variant.83270 4 158074162 [A/G] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB EXON Synonymous_Q399Q,Silent,Synonymous_Q399Q exm2068411 4 158091771 [G/C] NM_000824,NM_001166061,NM_001166060 GLRB,GLRB,GLRB EXON Missense_A462G,Silent,Missense_A462G rs17035827 4 158093737 [A/G] rs10025251 4 158131579 [T/C] exm431260 4 158142820 [T/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Synonymous_G30G,Synonymous_G30G,Silent rs6536221 4 158143886 [A/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 Silent,Silent,Silent rs9993365 4 158186342 [A/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 Silent,Silent,Silent rs7682101 4 158199532 [T/C] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 Silent,Silent,Silent rs6536229 4 158222905 [T/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 Silent,Silent,Silent exm431266 4 158224705 [T/C] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Synonymous_F77F,Synonymous_F77F,Synonymous_F30F exm431270 4 158224808 [A/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Missense_I112V,Missense_I112V,Missense_I65V exm431272 4 158224858 [A/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Missense_M128I,Missense_M128I,Missense_M81I exm431287 4 158238831 [A/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Missense_V230I,Missense_V230I,Missense_V183I exm431293 4 158242671 [T/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Missense_S268A,Missense_S268A,Missense_S221A exm431303 4 158254056 [A/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Missense_R323Q,Missense_R323Q,Missense_R276Q exm431305 4 158254473 [A/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Missense_I375V,Missense_I375V,Missense_I328V variant.83271 4 158254507 [T/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 Silent,Silent,Silent exm431315 4 158257778 [C/G] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Missense_E575Q,Missense_E575Q,Missense_E528Q rs6536234 4 158276014 [A/C] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 Silent,Silent,Silent var_4_158282199 4 158282199 [T/C] NM_001083619,NM_000826,NM_001083620 GRIA2,GRIA2,GRIA2 EXON Nonsense_Q777X,Silent,Silent rs6823909 4 158327705 [T/C] rs4234911 4 158333646 [T/C] rs4691400 4 158336110 [T/C] rs10029781 4 158361729 [A/C] rs1369028 4 158366623 [A/G] rs6842542 4 158375017 [A/G] rs11731394 4 158375048 [T/C] rs17036167 4 158383798 [A/G] rs17246641 4 158383828 [A/G] exm2265781 4 158390203 [A/G] rs12647438 4 158391794 [T/C] rs17036216 4 158416500 [A/G] rs6820047 4 158419053 [T/C] rs12507865 4 158430547 [T/C] rs725037 4 158443622 [T/C] rs1550017 4 158444071 [A/G] rs12054636 4 158444947 [A/G] rs6536246 4 158447249 [T/C] rs4475188 4 158452144 [A/C] rs1594869 4 158462362 [T/C] rs4234914 4 158468178 [T/C] rs17036351 4 158475705 [A/G] rs12331558 4 158479475 [T/C] rs1036342 4 158492974 [A/G] rs6830776 4 158502750 [T/C] rs10857301 4 158503661 [T/C] rs2344819 4 158533054 [T/C] rs1907089 4 158540416 [T/C] rs7697239 4 158541687 [A/G] rs1490530 4 158541777 [A/G] rs6856493 4 158542093 [A/G] rs17036587 4 158551617 [A/C] rs6821900 4 158574310 [A/C] rs10017629 4 158577288 [A/C] rs6839727 4 158586638 [T/C] rs2220582 4 158600677 [T/C] rs10024159 4 158602153 [T/G] rs4484348 4 158609602 [A/G] exm2265886 4 158620303 [A/G] rs10030915 4 158634769 [A/G] rs1383707 4 158669702 [A/G] rs756334 4 158689938 [T/C] rs12648731 4 158697324 [T/C] rs985731 4 158706314 [A/C] rs7671734 4 158711676 [T/C] rs7434819 4 158731019 [A/G] rs6812217 4 158737934 [A/C] rs7693369 4 158778839 [A/G] rs6836401 4 158786983 [A/G] rs7698656 4 158790324 [A/G] rs1481223 4 158793663 [A/G] kgp2392943 4 158799996 [A/G] rs10008901 4 158805030 [A/G] rs721604 4 158866939 [T/G] rs10517684 4 158909445 [T/C] rs10461245 4 158924505 [T/C] exm2269870 4 158932876 [T/G] rs6847800 4 158932876 [T/G] kgp7973840 4 158935149 [T/C] kgp5057839 4 158936705 [T/C] rs13144391 4 158988325 [A/G] rs13116234 4 158991908 [A/G] rs4388135 4 159014453 [T/G] rs10517685 4 159033327 [T/C] rs8370 4 159045966 [A/G] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Silent,Silent,Silent exm2068469 4 159048596 [T/C] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Missense_N508S,Missense_N516S,Missense_N508S variant.83274 4 159048680 [T/C] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Nonsense_W480X,Nonsense_W488X,Nonsense_W480X exm431349 4 159048692 [T/C] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Missense_D476G,Missense_D484G,Missense_D476G variant.83275 4 159048720 [A/G] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Nonsense_Q467X,Nonsense_Q475X,Nonsense_Q467X variant.83277 4 159052038 [A/G] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Nonsense_R418X,Nonsense_R426X,Nonsense_R418X exm431360 4 159052059 [T/C] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Missense_A411T,Missense_A419T,Missense_A411T exm431365 4 159052122 [A/G] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Missense_R390C,Missense_R398C,Missense_R390C indel.83278 4 159052141 [I/D] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON rs4691458 4 159055765 [T/C] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B Silent,Silent,Silent rs6833295 4 159064672 [T/G] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B Silent,Silent,Silent exm431366 4 159076806 [T/C] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Missense_H361R,Missense_H369R,Missense_H361R rs6830702 4 159076826 [T/C] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Synonymous_S354S,Synonymous_S362S,Synonymous_S354S variant.83280 4 159076882 [A/G] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Nonsense_Q336X,Nonsense_Q344X,Nonsense_Q336X exm431368 4 159076944 [A/G] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Missense_A315V,Silent,Missense_A315V exm431370 4 159076972 [A/G] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Missense_R306C,Silent,Missense_R306C rs4690893 4 159083696 [T/C] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B Silent,Silent,Silent exm431374 4 159091422 [A/T] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Silent,Nonsense_K330X,Silent exm431375 4 159091424 [C/G] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Silent,Missense_G329A,Silent var_4_159091618 4 159091618 [T/C] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Missense_D304N,Missense_A304T,Missense_D304N exm2275776 4 159091777 [A/C] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Missense_G251W,Missense_G251W,Missense_G251W exm431385 4 159091827 [T/C] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Missense_G234E,Missense_G234E,Missense_G234E exm431386 4 159091828 [T/C] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Missense_G234R,Missense_G234R,Missense_G234R exm431392 4 159091864 [A/G] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Nonsense_R222X,Nonsense_R222X,Nonsense_R222X exm431396 4 159091971 [A/G] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Missense_P186L,Missense_P186L,Missense_P186L exm431398 4 159092014 [C/G] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Missense_L172V,Missense_L172V,Missense_L172V exm431399 4 159092022 [T/C] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Missense_G169E,Missense_G169E,Missense_G169E exm431401 4 159092043 [A/G] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Missense_V162A,Missense_V162A,Missense_V162A exm431403 4 159092106 [T/C] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Missense_G141E,Missense_G141E,Missense_G141E exm431423 4 159092523 [A/G] NM_016613,NM_001031700,NM_001128424 FAM198B,FAM198B,FAM198B EXON Missense_T2I,Missense_T2I,Missense_T2I rs10517688 4 159101703 [T/C] rs7662398 4 159127462 [T/G] exm431433 4 159136405 [A/G] NM_018342 TMEM144 EXON Missense_I58V exm431444 4 159140503 [T/C] NM_018342 TMEM144 EXON Missense_P125L exm431445 4 159140518 [T/C] NM_018342 TMEM144 EXON Missense_I130T exm431447 4 159154076 [A/G] NM_018342 TMEM144 EXON Missense_K146R exm431449 4 159154109 [A/G] NM_018342 TMEM144 EXON Missense_D157G exm431453 4 159156631 [A/T] NM_018342 TMEM144 EXON Missense_K179N exm431459 4 159158677 [A/G] NM_018342 TMEM144 EXON Synonymous_V188V exm431463 4 159158784 [A/C] NM_018342 TMEM144 EXON Missense_A224E 1KG_4_159158784 4 159158784 [I/D] NM_018342 TMEM144 EXON variant.83288 4 159161450 [T/G] NM_018342 TMEM144 Silent exm431468 4 159161483 [T/A] NM_018342 TMEM144 EXON Missense_I239F exm431470 4 159161493 [T/C] NM_018342 TMEM144 EXON Missense_T242I exm431477 4 159162759 [A/G] NM_018342 TMEM144 Silent rs1879656 4 159173102 [A/G] NM_018342 TMEM144 Silent rs1410789 4 159179862 [T/G] rs10857310 4 159185770 [A/G] rs11932623 4 159206103 [T/C] rs11100160 4 159235840 [T/G] rs4577629 4 159241440 [A/G] rs6536306 4 159266567 [T/C] rs7435789 4 159275588 [T/C] rs7441062 4 159295359 [A/G] rs10857312 4 159317442 [A/G] rs4691493 4 159331657 [A/G] rs6847255 4 159367847 [A/G] rs7375480 4 159412248 [T/C] rs10024711 4 159417679 [A/G] rs7377646 4 159430701 [A/G] rs13143911 4 159433681 [T/C] rs1455454 4 159441020 [A/G] rs7678831 4 159441539 [T/G] rs6536353 4 159474632 [T/C] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045584,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6832186 4 159481490 [T/C] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045584,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6857344 4 159490434 [A/G] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045584,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm431490 4 159493951 [A/G] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045584,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Missense_D51N,Missense_D51N,Missense_D51N,Silent,Silent,Missense_D51N,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm431505 4 159533354 [G/C] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045584,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm431509 4 159538299 [A/G] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045584,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Missense_V200I,Missense_V260I,Missense_V233I,Missense_V101I,Silent,Missense_V233I,Silent,Missense_V103I,Silent,Silent,Missense_V101I,Silent,Silent exm2068540 4 159538340 [A/G] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045584,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Missense_M213I,Missense_M273I,Missense_M246I,Missense_M114I,Silent,Missense_M246I,Silent,Missense_M116I,Silent,Silent,Missense_M114I,Silent,Silent exm2269981 4 159544076 [T/G] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045584,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2068543 4 159549831 [T/C] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045584,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Missense_T257I,Missense_T317I,Missense_T290I,Missense_T158I,Silent,Missense_T290I,Silent,Missense_T160I,Silent,Silent,Missense_T134I,Silent,Silent exm431520 4 159554592 [T/C] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045584,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Missense_P279L,Missense_P339L,Silent,Missense_P180L,Silent,Missense_P312L,Silent,Missense_P182L,Silent,Silent,Missense_P156L,Silent,Silent variant.83295 4 159566184 [A/G] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045584,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Nonsense_W380X,Nonsense_W440X,Nonsense_W365X,Nonsense_W281X,Silent,Nonsense_W413X,Silent,Nonsense_W282X,Silent,Silent,Nonsense_W257X,Silent,Silent exm431529 4 159566233 [T/C] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045584,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Nonsense_R397X,Nonsense_R457X,Nonsense_R382X,Nonsense_R298X,Silent,Nonsense_R430X,Silent,Nonsense_R299X,Silent,Silent,Nonsense_R274X,Silent,Silent exm431530 4 159566240 [T/A] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045584,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Missense_Y399F,Missense_Y459F,Missense_Y384F,Missense_Y300F,Silent,Missense_Y432F,Silent,Missense_Y301F,Silent,Silent,Missense_Y276F,Silent,Silent exm431534 4 159567975 [A/G] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Missense_V427M,Missense_V487M,Missense_V412M,Missense_V328M,Silent,Missense_V460M,Silent,Missense_V329M,Silent,Silent,Missense_V304M,Silent exm431535 4 159568003 [A/G] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Missense_R436H,Missense_R496H,Missense_R421H,Missense_R337H,Silent,Missense_R469H,Silent,Missense_R338H,Silent,Silent,Missense_R313H,Silent exm431542 4 159569856 [T/G] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Missense_Q621H,Missense_Q681H,Missense_Q606H,Missense_Q522H,Silent,Missense_Q654H,Silent,Missense_Q523H,Silent,Silent,Missense_Q498H,Silent 1KG_4_159573028 4 159573028 [D/I] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON exm431546 4 159573053 [A/G] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Missense_S674N,Missense_S734N,Missense_S659N,Missense_S575N,Silent,Missense_S707N,Silent,Missense_S576N,Silent,Silent,Missense_S551N,Silent exm2274056 4 159573193 [A/G] NM_001253728,NM_001253727,NM_001253729,NM_001253732,NR_045582,NM_021634,NR_045580,NM_001253730,NR_045583,NR_045581,NM_001253733,NR_045579 RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1,RXFP1 EXON Missense_N721D,Missense_N781D,Missense_N706D,Missense_N622D,Silent,Missense_N754D,Silent,Missense_N623D,Silent,Silent,Missense_N598D,Silent exm431554 4 159590838 [T/C] NM_001008393 C4orf46 EXON Missense_E90G exm431555 4 159590839 [T/C] NM_001008393 C4orf46 EXON Missense_E90K exm431557 4 159590841 [T/G] NM_001008393 C4orf46 EXON Missense_T89K exm431574 4 159601676 [T/C] NM_004453 ETFDH EXON Missense_T31I exm431576 4 159601706 [A/G] NM_004453 ETFDH EXON Missense_R41Q variant.83301 4 159601759 [A/G] NM_004453 ETFDH EXON Missense_G59R variant.83304 4 159605743 [A/G] NM_004453 ETFDH Silent exm431596 4 159606337 [A/G] NM_004453 ETFDH EXON Missense_G191D variant.83305 4 159611536 [A/G] NM_004453 ETFDH EXON Missense_A215T variant.83306 4 159616734 [A/G] NM_004453 ETFDH EXON Missense_Y257C exm431605 4 159616797 [T/C] NM_004453 ETFDH Silent variant.83308 4 159620167 [T/C] NM_004453 ETFDH EXON Missense_L334P exm431618 4 159620215 [A/G] NM_004453 ETFDH EXON Missense_R350Q variant.83309 4 159620250 [A/G] NM_004453 ETFDH EXON Missense_G362R exm431631 4 159627430 [T/C] NM_004453 ETFDH EXON Missense_H459Y variant.83310 4 159627450 [T/G] NM_004453 ETFDH EXON Nonsense_Y465X variant.83311 4 159627503 [T/C] NM_004453 ETFDH EXON Missense_P483L exm2068597 4 159629558 [A/G] NM_004453 ETFDH EXON Missense_R578Q indel.83312 4 159629598 [I/D] NM_004453 ETFDH EXON rs8396 4 159630817 [T/C] NM_005038 PPID EXON Silent exm-rs8396 4 159630817 [T/C] NM_005038 PPID EXON Silent indel.83314 4 159631775 [D/I] NM_005038 PPID exm431660 4 159631800 [T/C] NM_005038 PPID EXON Missense_G335E exm431666 4 159631991 [T/G] NM_005038 PPID EXON Missense_L302I variant.83315 4 159634270 [T/C] NM_005038 PPID Silent exm431667 4 159634297 [A/G] NM_005038 PPID EXON Nonsense_Q290X indel.83318 4 159636787 [D/I] NM_005038 PPID EXON exm431679 4 159636830 [T/C] NM_005038 PPID EXON Missense_V177I exm431682 4 159638271 [T/C] NM_005038 PPID EXON Missense_T139A exm431688 4 159638346 [A/G] NM_005038 PPID EXON Missense_R114W variant.83319 4 159642498 [A/G] NM_005038 PPID EXON Nonsense_R75X exm431702 4 159642576 [A/G] NM_005038 PPID EXON Missense_R49C rs4690912 4 159672059 [T/G] rs7666007 4 159677712 [A/G] rs11100196 4 159682676 [A/G] rs10857319 4 159729794 [T/C] NM_020840 FNIP2 Silent rs11725623 4 159732671 [T/C] NM_020840 FNIP2 Silent exm431719 4 159747079 [T/C] NM_020840 FNIP2 EXON Missense_S40L variant.83321 4 159753118 [A/G] NM_020840 FNIP2 Silent exm431730 4 159772474 [T/C] NM_020840 FNIP2 EXON Synonymous_A243A exm431736 4 159780244 [C/G] NM_020840 FNIP2 EXON Missense_T298S exm431737 4 159780252 [T/C] NM_020840 FNIP2 EXON Missense_S301P exm431744 4 159780791 [A/G] NM_020840 FNIP2 EXON Missense_R374H exm431746 4 159782494 [A/G] NM_020840 FNIP2 EXON Synonymous_R383R exm431751 4 159782620 [A/G] NM_020840 FNIP2 EXON Missense_I425M exm431759 4 159782889 [T/G] NM_020840 FNIP2 EXON Missense_A476S exm431764 4 159789403 [C/G] NM_020840 FNIP2 EXON Missense_G539R exm2256435 4 159789501 [A/G] NM_020840 FNIP2 EXON Synonymous_T571T exm431772 4 159789526 [T/C] NM_020840 FNIP2 EXON Missense_P580S exm431773 4 159789541 [T/C] NM_020840 FNIP2 EXON Missense_P585S exm431777 4 159789610 [A/G] NM_020840 FNIP2 EXON Missense_R608G exm431780 4 159789679 [A/G] NM_020840 FNIP2 EXON Missense_A631T exm431785 4 159789818 [T/C] NM_020840 FNIP2 EXON Missense_M677T exm431788 4 159789850 [A/G] NM_020840 FNIP2 EXON Missense_V688M exm431794 4 159789988 [T/C] NM_020840 FNIP2 EXON Missense_R734C exm431797 4 159790010 [A/G] NM_020840 FNIP2 EXON Missense_R741Q exm431804 4 159790159 [T/A] NM_020840 FNIP2 EXON Missense_S791T exm431805 4 159790198 [A/G] NM_020840 FNIP2 EXON Missense_D804N exm431810 4 159790250 [T/C] NM_020840 FNIP2 EXON Missense_T821I exm431812 4 159790261 [A/G] NM_020840 FNIP2 EXON Missense_G825S exm431813 4 159790274 [T/C] NM_020840 FNIP2 EXON Missense_T829M exm2068648 4 159790283 [A/G] NM_020840 FNIP2 EXON Missense_R832K exm431818 4 159790352 [G/C] NM_020840 FNIP2 EXON Missense_P855R exm431836 4 159812658 [T/C] NM_020840 FNIP2 EXON Missense_W1004R exm431843 4 159816971 [T/C] NM_020840,NM_152543 FNIP2,C4orf45 EXON Missense_R1074W,Silent variant.83322 4 159825675 [T/G] NM_020840,NM_152543 FNIP2,C4orf45 EXON Nonsense_Y1108X,Silent variant.83323 4 159825682 [T/C] NM_020840,NM_152543 FNIP2,C4orf45 EXON Nonsense_Q1111X,Silent rs10589 4 159827313 [T/C] NM_020840,NM_152543 FNIP2,C4orf45 EXON Silent,Silent rs9998332 4 159835412 [T/C] NM_152543 C4orf45 Silent exm431847 4 159836336 [A/G] NM_152543 C4orf45 EXON Missense_P178S exm431848 4 159836342 [A/T] NM_152543 C4orf45 EXON Nonsense_K176X exm431850 4 159836437 [A/G] NM_152543 C4orf45 EXON Missense_F144S exm431851 4 159836461 [A/G] NM_152543 C4orf45 EXON Missense_S136F exm431854 4 159836467 [T/C] NM_152543 C4orf45 EXON Missense_R134H rs4146954 4 159860293 [T/C] NM_152543 C4orf45 Silent rs11724252 4 159863158 [A/G] NM_152543 C4orf45 Silent rs1820510 4 159873196 [T/C] NM_152543 C4orf45 Silent exm2240617 4 159881453 [T/C] NM_152543 C4orf45 EXON Missense_R114K rs9784569 4 159881479 [T/C] NM_152543 C4orf45 EXON Synonymous_Q105Q rs11722868 4 159881943 [A/G] NM_152543 C4orf45 Silent exm2269871 4 159884753 [T/C] NM_152543 C4orf45 Silent rs714462 4 159885770 [T/C] NM_152543 C4orf45 Silent exm431858 4 159894241 [A/T] NM_152543 C4orf45 EXON Missense_F96Y exm431859 4 159894250 [T/C] NM_152543 C4orf45 EXON Missense_G93E exm431861 4 159894277 [T/C] NM_152543 C4orf45 EXON Missense_Y84C indel.83326 4 159894291 [D/I] NM_152543 C4orf45 EXON exm431862 4 159894305 [T/C] NM_152543 C4orf45 EXON Missense_S75G exm431864 4 159894311 [A/G] NM_152543 C4orf45 EXON Missense_Y73H exm2240618 4 159894331 [A/G] NM_152543 C4orf45 EXON Missense_P66L exm431868 4 159894353 [A/G] NM_152543 C4orf45 EXON Missense_P59S exm431869 4 159894368 [T/C] NM_152543 C4orf45 EXON Missense_R54G exm431870 4 159894391 [A/G] NM_152543 C4orf45 EXON Missense_A46V rs109119 4 159912840 [A/G] NM_152543 C4orf45 Silent rs1549850 4 159931261 [T/C] NM_152543 C4orf45 Silent rs7660477 4 159948180 [T/C] NM_152543 C4orf45 Silent rs6849580 4 159950990 [T/C] NM_152543 C4orf45 Silent rs2053346 4 159958150 [T/C] rs6834079 4 159961231 [T/G] rs12331691 4 159963042 [T/G] rs581849 4 159981640 [T/C] rs2014078 4 160019492 [T/C] rs10003940 4 160053187 [T/C] rs13148447 4 160079961 [A/C] rs7681750 4 160084403 [A/G] rs9997385 4 160118458 [A/G] rs10050099 4 160124407 [T/G] rs7685028 4 160132990 [A/G] rs11730876 4 160147159 [T/C] rs13139002 4 160151176 [A/G] rs4690933 4 160173942 [T/C] rs13145422 4 160185669 [T/C] rs10428456 4 160186284 [T/C] variant.83327 4 160189368 [A/G] NM_014247 RAPGEF2 Silent rs4396948 4 160208630 [A/G] NM_014247 RAPGEF2 Silent rs4295222 4 160210862 [A/G] NM_014247 RAPGEF2 Silent rs1133055 4 160221964 [T/C] NM_014247 RAPGEF2 Silent exm431889 4 160225621 [A/G] NM_014247 RAPGEF2 EXON Missense_Y63C exm431899 4 160244653 [A/G] NM_014247 RAPGEF2 EXON Missense_T184A rs10022399 4 160249722 [A/G] NM_014247 RAPGEF2 Silent exm2256439 4 160252817 [A/G] NM_014247 RAPGEF2 EXON Synonymous_A376A exm431948 4 160264178 [A/G] NM_014247 RAPGEF2 EXON Missense_K828R exm431953 4 160264543 [T/A] NM_014247 RAPGEF2 EXON Missense_M920L exm431954 4 160264556 [A/G] NM_014247 RAPGEF2 EXON Missense_R924Q exm431956 4 160266286 [A/G] NM_014247 RAPGEF2 EXON Missense_T942A var_4_160266483 4 160266483 [T/C] NM_014247 RAPGEF2 Silent exm431966 4 160268079 [T/G] NM_014247 RAPGEF2 EXON Missense_G1053V exm431970 4 160268114 [T/C] NM_014247 RAPGEF2 EXON Missense_R1065W exm431990 4 160274698 [C/G] NM_014247 RAPGEF2 EXON Missense_S1223C exm431991 4 160274740 [T/C] NM_014247 RAPGEF2 EXON Missense_A1237V exm431996 4 160274815 [T/C] NM_014247 RAPGEF2 EXON Missense_T1262M exm432004 4 160274937 [T/C] NM_014247 RAPGEF2 EXON Missense_H1303Y exm432009 4 160275127 [T/C] NM_014247 RAPGEF2 EXON Missense_T1366M exm432011 4 160275172 [T/C] NM_014247 RAPGEF2 EXON Missense_A1381V exm432023 4 160277263 [T/C] NM_014247 RAPGEF2 EXON Missense_P1476L rs12505843 4 160299086 [A/G] rs4440173 4 160327856 [A/G] rs11730206 4 160338309 [T/G] exm2269982 4 160341351 [T/G] rs6812880 4 160344788 [T/C] rs2699032 4 160350425 [A/G] rs2699036 4 160352798 [A/G] rs4691567 4 160364016 [A/G] rs2707687 4 160369165 [A/G] rs11947461 4 160374255 [T/C] rs2699006 4 160381253 [T/G] rs6833365 4 160384694 [A/G] rs2851820 4 160406190 [T/C] rs13144517 4 160412034 [T/C] rs7660063 4 160424615 [A/G] rs2851798 4 160446640 [A/G] rs6824835 4 160456060 [T/G] rs11100238 4 160477057 [A/G] rs4691577 4 160486937 [A/G] rs998888 4 160494830 [T/G] rs2348414 4 160497236 [T/C] rs6858329 4 160512123 [T/C] rs17239575 4 160516090 [A/G] rs2000886 4 160521480 [T/C] rs13125739 4 160526077 [A/G] rs4383572 4 160558972 [T/C] rs11933100 4 160560872 [A/G] rs12331504 4 160563128 [A/G] rs10517704 4 160578021 [A/G] rs6536452 4 160594757 [T/C] rs10517706 4 160596412 [T/C] rs1118040 4 160604277 [T/C] exm2269872 4 160607399 [T/C] rs1580882 4 160609723 [T/C] exm-rs9762089 4 160630642 [T/C] rs2348616 4 160640315 [T/C] rs1224511 4 160654172 [A/G] rs10009182 4 160669731 [T/C] rs2125165 4 160670667 [T/C] rs35272456 4 160736225 [T/C] rs6811354 4 160742791 [A/G] rs4690958 4 160766276 [A/G] rs7672637 4 160815681 [T/C] rs11945058 4 160816351 [A/G] rs4119125 4 160822830 [A/G] rs4271965 4 160869705 [A/G] rs6814814 4 160884054 [A/G] rs6536489 4 160889694 [T/G] rs4323059 4 160903848 [T/C] rs13142965 4 160904953 [T/C] rs2711273 4 160974552 [T/C] rs2708233 4 160979988 [T/C] rs7674336 4 160992265 [A/G] rs17326052 4 160993666 [A/C] rs10031516 4 161000801 [A/G] rs1593935 4 161010407 [T/C] rs1612279 4 161024158 [A/G] rs2464855 4 161041088 [T/C] exm2261646 4 161064449 [T/C] rs1922867 4 161066117 [T/C] rs11723182 4 161066459 [A/C] rs1882684 4 161067895 [A/G] rs11930198 4 161094977 [T/C] rs10017226 4 161095976 [A/G] rs17329555 4 161105967 [T/C] rs1950167 4 161109431 [T/C] rs10022595 4 161110042 [A/G] rs1279186 4 161116677 [A/G] rs17039338 4 161129696 [T/C] rs1922876 4 161130933 [T/G] rs10461271 4 161131305 [T/C] rs13138661 4 161135028 [A/G] rs13152810 4 161137084 [T/C] rs17039372 4 161149134 [T/C] rs17039374 4 161149981 [T/G] rs17039386 4 161159633 [A/G] rs6835451 4 161160240 [T/C] rs295238 4 161171083 [A/G] rs295240 4 161179694 [T/C] rs953014 4 161214912 [A/G] rs953012 4 161215280 [T/G] rs4269136 4 161216205 [A/C] rs12374311 4 161224554 [A/G] rs7694810 4 161225387 [T/G] rs11939980 4 161229808 [T/C] rs2112267 4 161234438 [T/C] rs1495603 4 161239313 [T/G] rs1532391 4 161240911 [A/G] rs6846953 4 161255092 [A/G] rs12503435 4 161270471 [A/C] rs294514 4 161280429 [A/G] rs17272220 4 161287144 [T/G] rs294526 4 161294866 [T/C] rs9884424 4 161300559 [A/G] rs6835941 4 161306164 [A/G] rs1946867 4 161307463 [T/C] rs10014285 4 161307972 [A/G] rs6536518 4 161308423 [A/G] rs7675061 4 161310422 [A/G] rs7674486 4 161314077 [T/G] rs1583732 4 161320477 [T/G] rs17039540 4 161323274 [A/C] rs7376552 4 161343388 [T/C] rs4691663 4 161348483 [T/C] rs10005281 4 161363563 [A/G] rs1157128 4 161365143 [T/G] rs12640159 4 161366623 [A/G] rs1347903 4 161379828 [T/C] rs1371251 4 161381482 [A/G] rs6827968 4 161399652 [A/C] rs13136944 4 161409160 [T/G] rs13151634 4 161411394 [T/C] rs12498920 4 161413994 [A/G] rs4525928 4 161421752 [A/C] rs9995630 4 161427827 [T/C] rs4690982 4 161428827 [T/C] rs1595667 4 161441599 [T/C] rs17039652 4 161444504 [T/C] rs11930824 4 161451545 [A/G] rs10032921 4 161453186 [A/C] rs1439395 4 161464002 [T/C] rs10018218 4 161473319 [T/C] rs17039750 4 161477815 [T/G] rs17277682 4 161479466 [A/G] rs12511322 4 161501719 [A/G] exm-rs17291045 4 161506897 [T/C] rs11938367 4 161508641 [A/G] exm2265783 4 161508641 [A/G] rs2350469 4 161517400 [A/G] rs6847636 4 161534644 [T/C] rs1992108 4 161548582 [T/C] rs11945623 4 161552712 [A/G] rs1436944 4 161575686 [T/C] rs17359034 4 161578427 [T/C] rs17039968 4 161579050 [T/C] rs4690990 4 161597298 [A/G] rs2164631 4 161598173 [A/G] rs6843805 4 161617009 [T/C] rs9308012 4 161623467 [T/G] rs1370171 4 161632032 [A/G] rs4691696 4 161646978 [A/G] rs4081678 4 161659251 [A/G] rs3846247 4 161662308 [A/G] rs10011041 4 161666367 [A/G] rs13130301 4 161676056 [A/C] rs3846250 4 161683458 [A/G] rs12499554 4 161698345 [A/G] rs1420877 4 161707186 [T/C] rs3909235 4 161718544 [T/C] rs4691702 4 161736289 [T/C] rs2349301 4 161742881 [T/G] rs7667388 4 161756548 [T/C] rs17040246 4 161761676 [T/G] rs1420884 4 161764629 [A/C] exm2269984 4 161767814 [T/C] rs4594673 4 161771838 [A/G] rs6840597 4 161783422 [T/C] rs9991811 4 161785599 [A/C] rs7694824 4 161790594 [A/G] rs9997826 4 161808171 [T/C] rs4463025 4 161808304 [T/C] rs11737365 4 161809149 [T/C] rs4399939 4 161818208 [T/C] rs4613522 4 161828952 [T/G] rs9992795 4 161840651 [A/G] rs7695380 4 161851303 [A/G] rs9993721 4 161856084 [A/G] rs9993952 4 161856343 [A/G] rs13122745 4 161863893 [A/G] rs6858095 4 161864128 [A/G] rs4529002 4 161875145 [T/C] rs12503470 4 161889983 [T/C] rs11100327 4 161924832 [T/C] rs4467511 4 161940430 [A/G] rs9991854 4 161940921 [A/C] rs1439260 4 161945302 [A/C] rs4234935 4 161946368 [A/G] rs17301015 4 161953729 [T/C] rs2028307 4 161968079 [A/G] rs17040579 4 161982414 [A/G] rs2218107 4 161987342 [A/G] rs17040617 4 161996191 [A/C] rs17375159 4 162002921 [T/C] rs12645681 4 162024164 [T/C] rs10014253 4 162028591 [A/C] rs2313008 4 162029797 [A/G] rs13132807 4 162065899 [A/C] rs10517736 4 162076088 [A/G] rs17378274 4 162088272 [A/C] rs6536577 4 162105557 [A/G] rs17040749 4 162109687 [A/C] rs12511816 4 162114535 [A/G] rs13148588 4 162115247 [A/G] rs12510599 4 162143173 [A/G] rs6831434 4 162155361 [A/G] rs17314203 4 162158922 [T/C] rs1444285 4 162163105 [A/C] rs10026817 4 162168945 [T/C] rs10517742 4 162202272 [A/C] rs10029508 4 162205711 [T/C] rs13102687 4 162207662 [T/C] rs13106146 4 162221987 [T/C] rs13107435 4 162222374 [A/G] rs7679790 4 162227134 [A/G] exm2264074 4 162227234 [A/C] rs7687260 4 162228270 [A/G] rs5010472 4 162235785 [A/G] rs5010468 4 162235993 [A/G] rs1530425 4 162236867 [A/G] rs12331118 4 162248546 [A/G] rs2313565 4 162249966 [T/C] exm-rs4470583 4 162250932 [A/G] rs12500982 4 162255732 [T/C] rs4327441 4 162261170 [A/G] rs7438721 4 162262333 [A/G] rs2314136 4 162262615 [T/C] rs6832320 4 162274024 [A/G] rs12643813 4 162284626 [A/G] rs17040974 4 162301366 [T/C] rs6823286 4 162303613 [T/C] exm432033 4 162307000 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_K814E,Missense_K805E,Missense_K815E exm432034 4 162307028 [A/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_L804F,Missense_L795F,Missense_L805F exm432035 4 162307059 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_R794Q,Missense_R785Q,Missense_R795Q rs17040984 4 162307060 [T/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Synonymous_R794R,Synonymous_R785R,Synonymous_R795R exm432042 4 162307312 [A/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_D710Y,Missense_D701Y,Missense_D711Y exm2256444 4 162307361 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Synonymous_T693T,Synonymous_T684T,Synonymous_T694T exm432052 4 162307501 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_V647I,Missense_V638I,Missense_V648I rs4547755 4 162327265 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs12639796 4 162328955 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs4518193 4 162350385 [T/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent exm432057 4 162376178 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_T606A,Missense_T597A,Missense_T607A exm432063 4 162376260 [A/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Synonymous_G578G,Synonymous_G569G,Synonymous_G579G exm2256445 4 162376260 [A/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Synonymous_G578G,Synonymous_G569G,Synonymous_G579G rs12650551 4 162376761 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs6536595 4 162382240 [A/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs17041096 4 162383466 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs11937911 4 162389854 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent exm432075 4 162402270 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_A503T,Missense_A494T,Missense_A504T rs6858725 4 162406039 [A/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs11100371 4 162419531 [A/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent exm432080 4 162421268 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_M452T,Missense_M443T,Missense_M453T rs17399436 4 162426149 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs4518198 4 162426629 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs17340154 4 162428196 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs4434196 4 162439632 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs4355345 4 162458688 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent variant.83332 4 162459318 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Synonymous_L437L,Missense_R437C,Synonymous_L438L rs12512822 4 162461996 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs9996901 4 162482595 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs4330312 4 162489958 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent exm432095 4 162508645 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_Y325C,Missense_Y325C,Missense_Y326C exm432096 4 162508676 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_V315I,Missense_V315I,Missense_V316I rs6858225 4 162511370 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs10003547 4 162514902 [T/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs4355346 4 162516553 [A/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs10517746 4 162521710 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs13149906 4 162522247 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs10857338 4 162525511 [A/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs17403181 4 162552883 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs17343847 4 162556751 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs17638339 4 162577430 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent exm432110 4 162577630 [T/A] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_S247R,Missense_S247R,Missense_S248R exm432111 4 162577640 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_I244T,Missense_I244T,Missense_I245T rs9308035 4 162595918 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs4532194 4 162600018 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs17638464 4 162602209 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent exm-rs17638464 4 162602209 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs11100382 4 162612565 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs7442468 4 162633257 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs12500089 4 162637121 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs1982121 4 162646894 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs17596009 4 162651017 [T/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs986704 4 162657759 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs1434614 4 162666856 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs11100385 4 162678311 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent exm432112 4 162680619 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_Y223C,Missense_Y223C,Missense_Y224C exm432113 4 162680682 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_V202A,Missense_V202A,Missense_V203A rs11942761 4 162687669 [T/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent exm432116 4 162697058 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_G192E,Missense_G192E,Missense_G193E exm432117 4 162697105 [A/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_K176N,Missense_K176N,Missense_K177N exm432119 4 162697119 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_I172V,Missense_I172V,Missense_I173V exm432120 4 162697125 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_D170N,Missense_D170N,Missense_D171N rs7690085 4 162709000 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent exm2264105 4 162713356 [A/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs1560926 4 162714672 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs13130537 4 162718372 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs17041550 4 162719690 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs359142 4 162737097 [A/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs9308039 4 162763646 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs1440588 4 162764014 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs11938253 4 162770250 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs16999366 4 162782993 [A/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs732224 4 162783324 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs6831077 4 162785412 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs11732750 4 162787495 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs4691032 4 162801373 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs1431490 4 162803540 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs1440604 4 162817423 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs7666181 4 162827306 [A/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs1348065 4 162837458 [T/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs1549828 4 162840766 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent exm432134 4 162841799 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_M55V,Missense_M55V,Missense_M56V rs1440610 4 162844090 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs721197 4 162863837 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs994654 4 162876772 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs359512 4 162881087 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs12643775 4 162886928 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs749833 4 162888136 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs466478 4 162900278 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs1483549 4 162904939 [T/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs359486 4 162907833 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent exm2265784 4 162912081 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs1483550 4 162925724 [A/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs11100407 4 162929158 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs922926 4 162930214 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs1471693 4 162953565 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs11942587 4 162967006 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs12649057 4 162973873 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs2101216 4 162991888 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs10030663 4 162995995 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs6814301 4 163005050 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs973516 4 163008238 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs1388834 4 163019507 [T/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent exm432144 4 163032521 [C/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 EXON Missense_V10L,Missense_V10L,Missense_V10L rs17599262 4 163039228 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs13134589 4 163041211 [A/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs17041987 4 163044149 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs6833160 4 163046421 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs1032394 4 163048238 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs17042032 4 163057553 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs13109373 4 163060499 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs7375984 4 163062608 [A/C] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs6818975 4 163074444 [A/G] NM_001128427,NM_001128428,NM_020116 FSTL5,FSTL5,FSTL5 Silent,Silent,Silent rs12646105 4 163094997 [T/C] rs7688606 4 163111888 [A/G] rs4574362 4 163135702 [T/C] rs13101933 4 163149785 [T/G] rs4292288 4 163152054 [A/C] rs4234947 4 163159563 [T/C] exm2261648 4 163179525 [A/G] rs7672069 4 163186335 [A/G] rs4429685 4 163195242 [A/C] rs6536647 4 163200863 [A/G] rs11100424 4 163205479 [A/G] rs4343679 4 163216127 [A/G] rs4355349 4 163221194 [A/G] rs13141291 4 163230830 [T/C] rs6852854 4 163237790 [A/G] rs4413364 4 163237809 [A/G] rs7684439 4 163245174 [T/C] rs6857753 4 163264951 [T/C] rs12508239 4 163267782 [A/G] rs10517764 4 163269056 [T/C] rs921344 4 163281547 [T/C] rs1118864 4 163282170 [T/C] rs11100437 4 163283456 [A/G] rs7656923 4 163284691 [A/G] rs7658242 4 163285245 [T/C] rs11936687 4 163288053 [A/G] exm2265785 4 163297150 [A/G] rs1597469 4 163318230 [T/C] rs17600575 4 163329336 [T/C] rs11931857 4 163332375 [A/G] rs2060670 4 163332671 [T/C] rs2712675 4 163334309 [A/G] rs1597472 4 163356033 [A/G] rs2597484 4 163367829 [A/G] rs10029930 4 163376243 [T/C] rs17462361 4 163390849 [A/G] rs10021001 4 163403791 [T/C] rs10003033 4 163417093 [A/C] rs6839249 4 163419055 [A/G] rs2045631 4 163432830 [T/C] rs10428343 4 163475257 [T/G] rs11100450 4 163487232 [T/C] rs6536667 4 163494546 [A/G] rs13147036 4 163495571 [A/G] rs4691857 4 163497956 [A/G] rs2872973 4 163525235 [T/C] rs195894 4 163527435 [T/G] rs1903291 4 163540150 [A/G] rs6849368 4 163543945 [A/C] rs195937 4 163580271 [T/C] rs195921 4 163605363 [T/C] exm-rs195920 4 163605665 [T/C] rs195557 4 163658871 [T/G] rs17042829 4 163671744 [A/C] rs6839846 4 163707598 [A/G] rs10517773 4 163713049 [T/C] rs13130233 4 163718686 [A/G] rs995302 4 163725002 [A/G] rs11723207 4 163749607 [T/C] rs4144993 4 163758431 [T/C] rs2054210 4 163781864 [A/C] rs1458140 4 163782459 [T/G] rs4691874 4 163793257 [T/C] rs11100465 4 163804334 [A/G] rs2315664 4 163808442 [T/C] rs7673703 4 163836677 [A/G] rs13119671 4 163838176 [T/C] rs6852825 4 163854178 [T/C] rs4263350 4 163896310 [A/G] rs9684182 4 163901211 [A/G] rs6536694 4 163934608 [A/G] rs6849055 4 163939622 [A/G] exm2265786 4 163939622 [A/G] rs4130505 4 163955254 [A/G] rs1531589 4 163973796 [A/G] rs4691889 4 163980423 [T/C] rs2320331 4 163990008 [T/C] rs7676823 4 164007992 [A/G] rs11100479 4 164012901 [T/C] rs11941112 4 164013880 [T/C] exm432146 4 164048199 [C/G] NM_001128931 NAF1 EXON Missense_L368V rs1061075 4 164049916 [A/C] NM_001128931,NM_138386 NAF1,NAF1 EXON Silent,Silent exm432150 4 164050056 [T/G] NM_001128931,NM_138386 NAF1,NAF1 EXON Silent,Missense_Y493S exm432156 4 164050186 [T/C] NM_001128931,NM_138386 NAF1,NAF1 EXON Silent,Missense_G450S exm432171 4 164054373 [T/G] NM_001128931,NM_138386 NAF1,NAF1 EXON Missense_E322D,Missense_E322D exm432178 4 164061462 [T/C] NM_001128931,NM_138386 NAF1,NAF1 EXON Missense_S264N,Missense_S264N rs7693533 4 164066710 [T/C] NM_001128931,NM_138386 NAF1,NAF1 Silent,Silent rs6536704 4 164083616 [T/C] NM_001128931,NM_138386 NAF1,NAF1 Silent,Silent exm432188 4 164085425 [T/C] NM_001128931,NM_138386 NAF1,NAF1 EXON Missense_I162V,Missense_I162V exm432189 4 164085470 [T/C] NM_001128931,NM_138386 NAF1,NAF1 EXON Missense_I147V,Missense_I147V exm432210 4 164087753 [A/G] NM_001128931,NM_138386 NAF1,NAF1 EXON Missense_P43S,Missense_P43S exm432214 4 164087797 [A/G] NM_001128931,NM_138386 NAF1,NAF1 EXON Missense_A28V,Missense_A28V rs10001148 4 164101614 [A/G] rs12644622 4 164114844 [T/C] rs6536707 4 164123026 [A/G] rs11732470 4 164158859 [T/C] rs11932242 4 164191370 [T/G] rs11945307 4 164196370 [T/C] exm2265888 4 164200171 [A/G] rs4642195 4 164200171 [A/G] rs3967761 4 164211883 [T/C] rs7688754 4 164221286 [T/C] rs4057791 4 164225132 [A/C] rs6828820 4 164230540 [T/C] rs10033119 4 164245854 [A/G] NM_000909 NPY1R EXON Silent exm432218 4 164246489 [T/G] NM_000909 NPY1R EXON Missense_K374T exm432233 4 164246901 [A/G] NM_000909 NPY1R EXON Missense_R237C exm432251 4 164247375 [A/G] NM_000909 NPY1R EXON Missense_A111V exm432253 4 164247579 [A/G] NM_000909 NPY1R EXON Missense_L43S exm2068891 4 164247588 [A/G] NM_000909 NPY1R EXON Missense_I40T exm432257 4 164247673 [A/G] NM_000909 NPY1R EXON Missense_H12Y rs4234955 4 164260276 [A/G] indel.83334 4 164271706 [D/I] NM_006174 NPY5R EXON variant.83335 4 164271917 [A/G] NM_006174 NPY5R EXON Nonsense_W164X exm432282 4 164272165 [A/G] NM_006174 NPY5R EXON Missense_N247S exm432287 4 164272272 [A/C] NM_006174 NPY5R EXON Missense_K283Q exm2068897 4 164272341 [A/G] NM_006174 NPY5R EXON Missense_E306K exm432294 4 164272439 [T/G] NM_006174 NPY5R EXON Missense_E338D exm432298 4 164272621 [T/C] NM_006174 NPY5R EXON Missense_S399L rs7662762 4 164278765 [T/G] rs10031046 4 164288523 [T/G] rs7658224 4 164293345 [T/C] rs10024430 4 164295108 [A/G] rs1441716 4 164325064 [T/C] rs4691082 4 164328368 [T/C] rs6536728 4 164333380 [T/C] rs11937784 4 164340073 [T/G] rs1441720 4 164357974 [T/C] rs10014739 4 164362850 [A/C] rs2320767 4 164378054 [A/G] rs13121637 4 164380632 [T/C] rs10005483 4 164384209 [A/G] rs4234960 4 164389550 [T/C] exm432306 4 164393029 [T/C] NM_032136 TKTL2 EXON Missense_V620I exm432309 4 164393092 [A/G] NM_032136 TKTL2 EXON Missense_R599C exm432311 4 164393117 [T/A] NM_032136 TKTL2 EXON Missense_Q590H variant.83337 4 164393212 [A/G] NM_032136 TKTL2 EXON Nonsense_R559X exm432319 4 164393260 [A/G] NM_032136 TKTL2 EXON Missense_P543S exm432321 4 164393464 [G/C] NM_032136 TKTL2 EXON Missense_R475G exm2068919 4 164393508 [T/C] NM_032136 TKTL2 EXON Missense_H460R exm432328 4 164393674 [A/G] NM_032136 TKTL2 EXON Nonsense_R405X newrs148025040 4 164393674 [A/G] NM_032136 TKTL2 EXON Nonsense_R405X exm2068922 4 164393776 [A/G] NM_032136 TKTL2 EXON Nonsense_Q371X indel.83340 4 164393792 [D/I] NM_032136 TKTL2 EXON exm432335 4 164393835 [A/G] NM_032136 TKTL2 EXON Missense_F351S exm432336 4 164393887 [A/G] NM_032136 TKTL2 EXON Missense_R334C exm432337 4 164393904 [A/G] NM_032136 TKTL2 EXON Missense_A328V exm432349 4 164394262 [T/C] NM_032136 TKTL2 EXON Missense_A209T exm432352 4 164394321 [A/C] NM_032136 TKTL2 EXON Missense_G189V exm432353 4 164394333 [A/G] NM_032136 TKTL2 EXON Missense_V185A exm432354 4 164394337 [T/C] NM_032136 TKTL2 EXON Missense_D184N exm2256451 4 164394541 [A/G] NM_032136 TKTL2 EXON Synonymous_L116L exm432373 4 164394616 [C/G] NM_032136 TKTL2 EXON Missense_G91R exm432378 4 164394765 [T/G] NM_032136 TKTL2 EXON Nonsense_S41X exm2264075 4 164402006 [A/C] rs2320618 4 164407600 [T/C] rs7657886 4 164418356 [T/C] NM_018352 TMA16 Silent exm432389 4 164428216 [A/G] NM_018352 TMA16 EXON Missense_R12Q indel.83347 4 164428291 [D/I] NM_018352 TMA16 EXON exm432394 4 164435265 [A/C] NM_018352 TMA16 EXON Missense_Q65P exm2068944 4 164436465 [T/G] NM_018352 TMA16 EXON Missense_R80S exm432396 4 164436508 [T/C] NM_018352 TMA16 EXON Missense_H95Y exm432397 4 164436515 [A/G] NM_018352 TMA16 EXON Missense_S97N variant.83348 4 164436529 [T/C] NM_018352 TMA16 EXON Nonsense_Q102X exm432402 4 164436580 [T/C] NM_018352 TMA16 EXON Missense_R119W rs1044722 4 164447976 [A/C] NM_001166373,NM_017923 MARCH1,MARCH1 EXON Silent,Silent 1KG_4_164450017 4 164450017 [I/D] NM_001166373,NM_017923 MARCH1,MARCH1 EXON rs9993575 4 164454771 [T/C] NM_001166373,NM_017923 MARCH1,MARCH1 Silent,Silent rs2044052 4 164457232 [T/C] NM_001166373,NM_017923 MARCH1,MARCH1 Silent,Silent rs6815345 4 164471823 [A/G] NM_001166373,NM_017923 MARCH1,MARCH1 Silent,Silent rs10001689 4 164492395 [T/G] NM_001166373,NM_017923 MARCH1,MARCH1 Silent,Silent rs7693363 4 164499999 [T/G] NM_001166373,NM_017923 MARCH1,MARCH1 Silent,Silent rs6821802 4 164500909 [A/G] NM_001166373,NM_017923 MARCH1,MARCH1 Silent,Silent variant.83352 4 164506896 [T/C] NM_001166373,NM_017923 MARCH1,MARCH1 Silent,Silent exm432442 4 164507031 [T/C] NM_001166373,NM_017923 MARCH1,MARCH1 EXON Missense_R98H,Missense_R81H rs7693970 4 164514168 [T/C] NM_001166373,NM_017923 MARCH1,MARCH1 Silent,Silent rs17473521 4 164529581 [A/G] NM_001166373,NM_017923 MARCH1,MARCH1 Silent,Silent rs950565 4 164529829 [T/G] NM_001166373,NM_017923 MARCH1,MARCH1 Silent,Silent exm-rs3792615 4 164532801 [T/C] NM_001166373,NM_017923 MARCH1,MARCH1 Silent,Silent rs3792614 4 164532973 [A/C] NM_001166373,NM_017923 MARCH1,MARCH1 Silent,Silent indel.83353 4 164534501 [D/I] NM_001166373,NM_017923 MARCH1,MARCH1 EXON exm432449 4 164534517 [A/G] NM_001166373,NM_017923 MARCH1,MARCH1 EXON Missense_P64L,Missense_P47L exm432454 4 164534644 [A/G] NM_001166373,NM_017923 MARCH1,MARCH1 EXON Silent,Missense_H5Y rs4413365 4 164536663 [A/G] NM_001166373 MARCH1 Silent rs10030322 4 164540801 [T/C] NM_001166373 MARCH1 Silent rs7686154 4 164542625 [T/G] NM_001166373 MARCH1 Silent rs2036905 4 164547230 [T/G] NM_001166373 MARCH1 Silent rs2175490 4 164547492 [T/C] NM_001166373 MARCH1 Silent rs11725683 4 164561013 [A/C] NM_001166373 MARCH1 Silent rs16853 4 164564775 [A/G] NM_001166373 MARCH1 Silent rs1533151 4 164575991 [A/C] NM_001166373 MARCH1 Silent rs6826691 4 164602209 [T/C] NM_001166373 MARCH1 Silent rs998117 4 164611944 [T/G] NM_001166373 MARCH1 Silent variant.83354 4 164621997 [A/G] NM_001166373 MARCH1 EXON Nonsense_R44X rs1511783 4 164632127 [A/G] NM_001166373 MARCH1 Silent rs1565840 4 164634372 [A/C] NM_001166373 MARCH1 Silent rs6814421 4 164655112 [A/G] NM_001166373 MARCH1 Silent rs7667981 4 164661559 [A/C] NM_001166373 MARCH1 Silent rs12645753 4 164721357 [T/C] NM_001166373 MARCH1 Silent rs1874094 4 164753387 [T/C] NM_001166373 MARCH1 Silent rs7681115 4 164758636 [A/G] NM_001166373 MARCH1 Silent rs2047160 4 164759917 [T/C] NM_001166373 MARCH1 Silent rs7693115 4 164766062 [A/G] NM_001166373 MARCH1 Silent rs11100520 4 164772977 [T/C] NM_001166373 MARCH1 Silent rs7655259 4 164782515 [A/C] NM_001166373 MARCH1 Silent rs1494284 4 164797386 [T/C] NM_001166373 MARCH1 Silent rs17474585 4 164799338 [A/G] NM_001166373 MARCH1 Silent exm2265787 4 164801854 [A/G] NM_001166373 MARCH1 Silent rs6536757 4 164820243 [A/G] NM_001166373 MARCH1 Silent rs4267695 4 164829104 [T/C] NM_001166373 MARCH1 Silent rs6844489 4 164830114 [A/G] NM_001166373 MARCH1 Silent rs10008162 4 164841877 [A/G] NM_001166373 MARCH1 Silent rs11100528 4 164845121 [A/G] NM_001166373 MARCH1 Silent rs7698990 4 164854370 [A/G] NM_001166373 MARCH1 Silent rs10857365 4 164865947 [T/G] NM_001166373 MARCH1 Silent rs3967462 4 164884738 [T/C] NM_001166373 MARCH1 Silent rs3967463 4 164884894 [A/G] NM_001166373 MARCH1 Silent rs7674531 4 164886060 [A/G] NM_001166373 MARCH1 Silent rs9308069 4 164889887 [A/G] NM_001166373 MARCH1 Silent rs3792673 4 164905719 [A/G] NM_001166373 MARCH1 Silent rs11736201 4 164922631 [T/C] NM_001166373 MARCH1 Silent rs10007601 4 164934874 [A/G] NM_001166373 MARCH1 Silent rs4533720 4 164959804 [A/G] NM_001166373 MARCH1 Silent rs4560357 4 164962875 [A/C] NM_001166373 MARCH1 Silent rs10026455 4 164968546 [A/G] NM_001166373 MARCH1 Silent rs6536779 4 164972162 [T/C] NM_001166373 MARCH1 Silent rs6536780 4 164972256 [A/G] NM_001166373 MARCH1 Silent rs17475275 4 164976680 [A/G] NM_001166373 MARCH1 Silent rs891577 4 164982057 [T/C] NM_001166373 MARCH1 Silent rs1430987 4 164991575 [A/G] NM_001166373 MARCH1 Silent rs971945 4 164992016 [T/G] NM_001166373 MARCH1 Silent rs17044453 4 164997108 [T/G] NM_001166373 MARCH1 Silent rs919574 4 165013565 [A/G] NM_001166373 MARCH1 Silent rs919575 4 165013637 [A/G] NM_001166373 MARCH1 Silent rs17675820 4 165035159 [T/G] NM_001166373 MARCH1 Silent rs4691956 4 165037553 [T/C] NM_001166373 MARCH1 Silent rs4691961 4 165052223 [A/G] NM_001166373 MARCH1 Silent rs17579243 4 165052304 [T/C] NM_001166373 MARCH1 Silent rs2195697 4 165057027 [A/G] NM_001166373 MARCH1 Silent rs982257 4 165060898 [T/C] NM_001166373 MARCH1 Silent rs1430986 4 165076871 [T/C] NM_001166373 MARCH1 Silent rs1430997 4 165087375 [T/C] NM_001166373 MARCH1 Silent rs17044711 4 165093156 [T/C] NM_001166373 MARCH1 Silent rs2163395 4 165108381 [T/C] NM_001166373 MARCH1 Silent rs1835507 4 165111673 [A/G] NM_001166373 MARCH1 Silent exm432467 4 165118266 [T/C] NM_001166373,NM_012403 MARCH1,ANP32C EXON Silent,Missense_S200G exm432475 4 165118446 [A/G] NM_001166373,NM_012403 MARCH1,ANP32C EXON Silent,Missense_Y140H exm432476 4 165118455 [T/G] NM_001166373,NM_012403 MARCH1,ANP32C EXON Silent,Missense_Q137K exm432478 4 165118467 [T/C] NM_001166373,NM_012403 MARCH1,ANP32C EXON Silent,Missense_K133E exm432487 4 165118652 [T/C] NM_001166373,NM_012403 MARCH1,ANP32C EXON Silent,Missense_R71K exm432488 4 165118679 [T/A] NM_001166373,NM_012403 MARCH1,ANP32C EXON Silent,Missense_K62M exm432491 4 165118731 [T/C] NM_001166373,NM_012403 MARCH1,ANP32C EXON Silent,Missense_E45K exm432498 4 165118820 [A/G] NM_001166373,NM_012403 MARCH1,ANP32C EXON Silent,Missense_A15V rs4502640 4 165129362 [A/G] NM_001166373 MARCH1 Silent rs6814420 4 165131350 [A/G] NM_001166373 MARCH1 Silent rs9968537 4 165139274 [T/C] NM_001166373 MARCH1 Silent rs17676292 4 165161269 [T/C] NM_001166373 MARCH1 Silent rs4561891 4 165168921 [A/C] NM_001166373 MARCH1 Silent rs1985065 4 165202419 [T/C] NM_001166373 MARCH1 Silent rs2321377 4 165202724 [T/G] NM_001166373 MARCH1 Silent rs11941402 4 165214649 [A/G] NM_001166373 MARCH1 Silent exm2269985 4 165221971 [T/G] NM_001166373 MARCH1 Silent rs6829484 4 165222183 [A/G] NM_001166373 MARCH1 Silent rs7675835 4 165234545 [T/G] NM_001166373 MARCH1 Silent rs4622958 4 165237207 [A/G] NM_001166373 MARCH1 Silent rs7669453 4 165254752 [T/C] NM_001166373 MARCH1 Silent rs7662252 4 165262655 [T/C] NM_001166373 MARCH1 Silent rs4431170 4 165284574 [A/G] NM_001166373 MARCH1 Silent rs7658861 4 165305889 [T/C] rs4691974 4 165315996 [A/G] rs12510747 4 165317260 [T/C] rs9994016 4 165322933 [T/C] rs10004121 4 165329655 [A/C] rs1566934 4 165351210 [T/C] rs4691118 4 165351616 [T/C] rs2874568 4 165364934 [T/C] rs1857798 4 165370126 [T/C] rs2089223 4 165386097 [A/G] rs1960980 4 165395936 [T/C] rs7690372 4 165403992 [T/C] rs12650464 4 165406393 [A/G] rs1505392 4 165422101 [A/C] rs1505390 4 165425204 [A/G] rs13128973 4 165434864 [T/C] NR_049864 MIR5684 Silent rs7654643 4 165440926 [T/C] NR_049864 MIR5684 Silent exm2269873 4 165445733 [T/G] NR_049864 MIR5684 Silent rs6839763 4 165448658 [A/C] NR_049864 MIR5684 Silent rs4597781 4 165452112 [A/G] NR_049864 MIR5684 Silent rs10001210 4 165452969 [T/C] NR_049864 MIR5684 Silent rs12508710 4 165456150 [A/G] NR_049864 MIR5684 Silent rs7692840 4 165483847 [T/C] NR_049864 MIR5684 Silent rs7693270 4 165484115 [A/C] NR_049864 MIR5684 Silent rs1528698 4 165492082 [T/C] NR_049864 MIR5684 Silent rs17045152 4 165498202 [T/C] NR_049864 MIR5684 Silent rs13114673 4 165515604 [T/G] NR_049864 MIR5684 Silent rs17045196 4 165525192 [T/C] NR_049864 MIR5684 Silent rs17045224 4 165539202 [A/G] NR_049864 MIR5684 Silent rs1528699 4 165542344 [A/C] NR_049864 MIR5684 Silent rs11936514 4 165564737 [T/C] NR_049864 MIR5684 Silent rs12499842 4 165576740 [T/C] NR_049864 MIR5684 Silent rs12651422 4 165578100 [A/G] NR_049864 MIR5684 Silent rs11932404 4 165582170 [T/C] NR_049864 MIR5684 Silent rs12507345 4 165585563 [A/G] NR_049864 MIR5684 Silent rs10001932 4 165605068 [A/G] NR_049864 MIR5684 Silent rs11724238 4 165607558 [T/C] NR_049864 MIR5684 Silent rs4691129 4 165609979 [T/G] NR_049864 MIR5684 Silent rs6536843 4 165613783 [A/G] NR_049864 MIR5684 Silent rs11935111 4 165614362 [T/C] NR_049864 MIR5684 Silent rs6536847 4 165614650 [A/G] NR_049864 MIR5684 Silent rs6830070 4 165626856 [T/C] NR_049864 MIR5684 Silent rs1980391 4 165628814 [T/C] NR_049864 MIR5684 Silent rs9308087 4 165629466 [A/C] NR_049864 MIR5684 Silent rs7677517 4 165642091 [A/G] rs7696505 4 165644827 [A/G] rs17622247 4 165646228 [A/G] rs2056760 4 165649300 [A/G] rs4691131 4 165656200 [T/C] rs12502646 4 165658642 [T/C] rs4254724 4 165669160 [A/G] rs10006449 4 165682010 [A/G] NR_038834 LOC100505989 Silent rs4593086 4 165683452 [T/C] NR_038834 LOC100505989 Silent rs17045455 4 165683917 [T/C] NR_038834 LOC100505989 Silent rs10155303 4 165697040 [T/G] NR_038834 LOC100505989 Silent rs4539996 4 165707728 [A/C] NR_038834 LOC100505989 Silent rs7668032 4 165710503 [T/C] NR_038834 LOC100505989 Silent rs13152512 4 165721118 [T/G] NR_038834 LOC100505989 Silent rs13126014 4 165726126 [T/C] rs4572830 4 165726891 [T/C] rs4518194 4 165728860 [A/G] rs7683083 4 165737589 [A/C] rs6536867 4 165739878 [A/C] rs6536868 4 165740749 [T/C] rs4339166 4 165744136 [T/C] rs6827249 4 165756691 [T/C] rs4593087 4 165767472 [T/C] rs4346606 4 165771791 [T/G] rs11732066 4 165774233 [A/G] rs4459954 4 165793001 [T/C] rs4541465 4 165800154 [T/C] NR_038825 LOC100506013 EXON Silent rs13152225 4 165814775 [A/G] NR_038825 LOC100506013 Silent rs6854993 4 165827749 [A/G] rs4429695 4 165836060 [A/G] rs17584342 4 165837631 [A/G] rs6856935 4 165845582 [A/G] rs10006119 4 165849934 [A/G] rs3889246 4 165853130 [T/G] rs4359860 4 165859951 [T/C] rs10020142 4 165869919 [T/C] rs6834073 4 165875608 [T/C] NM_001012414 TRIM61 EXON Silent exm432509 4 165878311 [T/C] NM_001012414,NM_153027 TRIM61,FAM218A EXON Silent,Missense_P46L exm432510 4 165878335 [A/G] NM_001012414,NM_153027 TRIM61,FAM218A EXON Silent,Missense_H54R rs3733418 4 165878335 [A/G] NM_001012414,NM_153027 TRIM61,FAM218A EXON Silent,Missense_H54R exm432524 4 165878463 [A/G] NM_001012414,NM_153027 TRIM61,FAM218A EXON Silent,Missense_R97G exm432528 4 165878499 [T/C] NM_001012414,NM_153027 TRIM61,FAM218A EXON Silent,Missense_P109S indel.83355 4 165878548 [D/I] NM_001012414,NM_153027 TRIM61,FAM218A EXON exm432530 4 165878567 [G/C] NM_001012414,NM_153027 TRIM61,FAM218A EXON Silent,Missense_R131S exm2256455 4 165878588 [A/G] NM_001012414,NM_153027 TRIM61,FAM218A EXON Silent,Synonymous_T138T rs10034083 4 165879007 [A/G] NM_001012414,NM_153027 TRIM61,FAM218A EXON Silent,Silent exm2240639 4 165898682 [T/C] NM_001012414 TRIM61 Silent rs4691139 4 165908721 [A/G] exm2269874 4 165926586 [T/C] rs11942693 4 165930168 [A/G] rs7684974 4 165944299 [A/C] rs12505213 4 165951703 [A/G] exm432553 4 165961430 [T/C] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Missense_P69L,Missense_P69L variant.83358 4 165961495 [T/C] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Nonsense_Q91X,Nonsense_Q91X exm432568 4 165961828 [A/C] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Missense_L202I,Missense_L202I exm432569 4 165961840 [A/C] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Missense_Q206K,Missense_Q206K exm432570 4 165961850 [T/A] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Missense_E209V,Missense_E209V exm432571 4 165961889 [T/A] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Missense_E222V,Missense_E222V exm432573 4 165961915 [A/T] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Nonsense_K231X,Nonsense_K231X exm432575 4 165961984 [A/C] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Missense_S254R,Missense_S254R exm2277276 4 165961984 [A/G] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Missense_S254G,Missense_S254G exm432576 4 165961988 [T/G] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Missense_M255R,Missense_M255R exm432579 4 165962050 [A/G] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Missense_G276S,Missense_G276S exm432581 4 165962176 [T/C] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Nonsense_R318X,Nonsense_R318X variant.83365 4 165962269 [T/C] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Nonsense_R349X,Nonsense_R349X exm432584 4 165962270 [A/G] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Missense_R349Q,Missense_R349Q exm432585 4 165962273 [A/G] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Missense_H350R,Missense_H350R exm432587 4 165962311 [T/A] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Missense_I363L,Missense_I363L exm432591 4 165962374 [A/G] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Missense_G384R,Missense_G384R variant.83366 4 165962392 [T/C] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Nonsense_R390X,Nonsense_R390X exm432596 4 165962462 [T/G] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Missense_S413I,Missense_S413I exm432597 4 165962490 [T/A] NM_152620,NM_001258025 TRIM60,TRIM60 EXON Missense_E422D,Missense_E422D rs12503351 4 165965120 [A/G] rs6828376 4 165971999 [A/G] rs4691148 4 165982775 [A/G] rs10027850 4 165995106 [A/G] indel.83368 4 166009674 [D/I] NM_001100389 TMEM192 EXON rs12498760 4 166010815 [A/G] NM_001100389 TMEM192 Silent rs4643773 4 166014766 [A/G] NM_001100389 TMEM192 Silent exm432664 4 166021848 [T/C] NM_001100389 TMEM192 EXON Missense_R124Q variant.83369 4 166021849 [A/G] NM_001100389 TMEM192 EXON Nonsense_R124X exm432677 4 166024181 [A/T] NM_001100389 TMEM192 EXON Missense_H32L rs4690801 4 166026033 [T/C] NM_001100389 TMEM192 Silent rs2056255 4 166035174 [A/G] rs7661552 4 166040374 [A/G] rs17623971 4 166055516 [T/G] rs9308098 4 166080237 [T/C] rs10014286 4 166089111 [T/C] rs4234891 4 166090564 [A/G] rs11731244 4 166099190 [T/C] rs10010241 4 166123245 [T/C] indel.83370 4 166131333 [I/D] NM_007246,NM_001161521,NM_001161522 KLHL2,KLHL2,KLHL2 rs17585396 4 166144008 [T/C] NM_007246,NM_001161521,NM_001161522 KLHL2,KLHL2,KLHL2 Silent,Silent,Silent rs12330937 4 166168419 [A/G] NM_007246,NM_001161521,NM_001161522 KLHL2,KLHL2,KLHL2 Silent,Silent,Silent rs11726531 4 166211057 [T/C] NM_007246,NM_001161521,NM_001161522 KLHL2,KLHL2,KLHL2 Silent,Silent,Silent exm2240642 4 166218836 [T/C] NM_007246,NM_001161521,NM_001161522 KLHL2,KLHL2,KLHL2 EXON Missense_H244Y,Missense_H248Y,Missense_H156Y rs6536903 4 166237389 [A/G] NM_007246,NM_001161521,NM_001161522 KLHL2,KLHL2,KLHL2 Silent,Silent,Silent rs17046216 4 166255704 [A/T] NM_001017369,NM_006745 MSMO1,MSMO1 Silent,Silent indel.83371 4 166258969 [D/I] NM_001017369,NM_006745 MSMO1,MSMO1 EXON exm432746 4 166258981 [A/G] NM_001017369,NM_006745 MSMO1,MSMO1 EXON Silent,Missense_K99R exm432750 4 166259061 [C/G] NM_001017369,NM_006745 MSMO1,MSMO1 EXON Silent,Missense_P126A indel.83372 4 166261416 [D/I] NM_001017369,NM_006745 MSMO1,MSMO1 EXON exm432757 4 166261449 [T/C] NM_001017369,NM_006745 MSMO1,MSMO1 EXON Missense_I72T,Missense_I203T exm432759 4 166261451 [A/G] NM_001017369,NM_006745 MSMO1,MSMO1 EXON Missense_V73M,Missense_V204M exm432761 4 166261514 [A/G] NM_001017369,NM_006745 MSMO1,MSMO1 EXON Missense_I94V,Missense_I225V variant.83373 4 166262902 [T/G] NM_001017369,NM_006745 MSMO1,MSMO1 Silent,Silent exm432771 4 166263034 [A/G] NM_001017369,NM_006745 MSMO1,MSMO1 EXON Missense_G142E,Missense_G273E rs1059209 4 166263213 [A/G] NM_001017369,NM_006745 MSMO1,MSMO1 EXON Silent,Silent rs17686529 4 166267383 [A/C] rs12641145 4 166270327 [A/G] rs6828152 4 166279952 [T/G] rs17046348 4 166281891 [A/G] rs12513198 4 166282004 [T/C] rs17488814 4 166283914 [A/G] rs4621390 4 166286171 [A/G] rs6837095 4 166287429 [T/C] rs1370682 4 166296379 [A/G] rs1583645 4 166298451 [A/G] exm432781 4 166300588 [T/C] NM_001873 CPE EXON Missense_A72V rs6850000 4 166304172 [A/G] NM_001873 CPE Silent rs9997245 4 166309213 [T/C] NM_001873 CPE Silent rs2322291 4 166310679 [T/C] NM_001873 CPE Silent rs1543915 4 166319702 [A/G] NM_001873 CPE Silent rs934819 4 166327010 [A/G] NM_001873 CPE Silent rs9992011 4 166334446 [A/G] NM_001873 CPE Silent rs13125242 4 166342375 [A/G] NM_001873 CPE Silent rs7692208 4 166358437 [T/C] NM_001873 CPE Silent rs10517849 4 166358532 [A/G] NM_001873 CPE Silent rs17687250 4 166358572 [T/G] NM_001873 CPE Silent rs2083159 4 166365138 [T/C] NM_001873 CPE Silent rs6836074 4 166369281 [A/G] NM_001873 CPE Silent exm432798 4 166388933 [A/G] NM_001873 CPE EXON Missense_V200M rs1530042 4 166389558 [T/C] NM_001873 CPE Silent rs1370686 4 166390220 [A/G] NM_001873 CPE Silent exm432804 4 166403458 [A/G] NM_001873 CPE EXON Missense_N246S exm432813 4 166405670 [A/G] NM_001873 CPE EXON Missense_N296S exm432827 4 166414347 [A/G] NM_001873 CPE EXON Missense_V380I exm432828 4 166414386 [A/G] NM_001873 CPE EXON Missense_I393V exm432832 4 166416765 [T/C] NM_001873 CPE EXON Missense_A423V exm432834 4 166416806 [A/G] NM_001873 CPE EXON Missense_V437I exm432837 4 166418725 [A/G] NM_001873 CPE EXON Missense_E465G rs2280322 4 166428294 [A/C] rs7656395 4 166436027 [A/G] exm2269875 4 166438457 [T/C] rs1438118 4 166448674 [A/G] exm2261652 4 166449915 [A/G] rs2322122 4 166455839 [A/G] rs17503083 4 166456376 [T/C] rs9990545 4 166469526 [A/G] rs7654319 4 166471139 [T/C] rs10017297 4 166488615 [T/C] rs1320227 4 166489134 [A/C] rs10006198 4 166497317 [A/G] rs1320225 4 166508518 [A/G] rs17046824 4 166519866 [A/G] rs9308109 4 166532454 [T/C] rs1246923 4 166533938 [T/C] rs9992328 4 166535178 [T/G] rs1459506 4 166547603 [A/G] rs2714834 4 166568732 [A/C] rs2611209 4 166578236 [T/G] rs11932029 4 166588960 [A/G] rs17688688 4 166592304 [A/G] rs1380355 4 166602585 [T/G] exm-rs1870477 4 166605228 [A/G] rs1870478 4 166605363 [T/G] rs2611259 4 166619952 [A/G] rs2611251 4 166629269 [T/C] rs2714850 4 166635425 [T/C] rs7695152 4 166641240 [A/G] rs17632444 4 166642590 [T/C] rs2714825 4 166645636 [A/G] rs9308115 4 166663108 [A/G] rs17504644 4 166663278 [A/G] rs13111857 4 166664618 [A/C] rs922096 4 166667602 [A/G] rs10517867 4 166667833 [T/C] rs191644 4 166674512 [A/G] rs355171 4 166689405 [T/C] rs2611830 4 166693657 [A/G] rs12331967 4 166698701 [A/G] rs7694605 4 166705990 [A/G] rs10517871 4 166721110 [T/C] rs12648621 4 166726468 [A/G] rs1380582 4 166734132 [T/C] rs7687480 4 166734530 [A/G] rs2874792 4 166752233 [A/C] rs17632760 4 166763264 [T/G] rs6816331 4 166764043 [T/G] rs6839698 4 166779429 [T/C] rs6536934 4 166785331 [A/G] rs6811456 4 166785679 [T/C] exm432846 4 166795123 [C/G] NM_012464,NM_001204760 TLL1,TLL1 EXON Missense_G23R,Missense_G23R rs9637646 4 166803528 [T/C] NM_012464,NM_001204760 TLL1,TLL1 Silent,Silent rs2125862 4 166806601 [A/G] NM_012464,NM_001204760 TLL1,TLL1 Silent,Silent rs1460060 4 166815429 [A/C] NM_012464,NM_001204760 TLL1,TLL1 Silent,Silent rs10025830 4 166827370 [A/G] NM_012464,NM_001204760 TLL1,TLL1 Silent,Silent rs13136952 4 166833808 [T/C] NM_012464,NM_001204760 TLL1,TLL1 Silent,Silent rs7658883 4 166837654 [A/G] NM_012464,NM_001204760 TLL1,TLL1 Silent,Silent rs1018139 4 166848001 [A/G] NM_012464,NM_001204760 TLL1,TLL1 Silent,Silent rs10517873 4 166850443 [A/G] NM_012464,NM_001204760 TLL1,TLL1 Silent,Silent rs7679471 4 166854959 [T/C] NM_012464,NM_001204760 TLL1,TLL1 Silent,Silent rs1503292 4 166867875 [A/C] NM_012464,NM_001204760 TLL1,TLL1 Silent,Silent rs7696087 4 166882179 [A/G] NM_012464,NM_001204760 TLL1,TLL1 Silent,Silent rs10031332 4 166899807 [T/C] NM_012464,NM_001204760 TLL1,TLL1 Silent,Silent rs1503294 4 166905263 [A/G] NM_012464,NM_001204760 TLL1,TLL1 Silent,Silent rs1393853 4 166908851 [A/G] NM_012464,NM_001204760 TLL1,TLL1 Silent,Silent exm432854 4 166914005 [A/C] NM_012464,NM_001204760 TLL1,TLL1 EXON Missense_Q110H,Missense_Q110H exm432860 4 166915629 [T/C] NM_012464,NM_001204760 TLL1,TLL1 EXON Missense_T153M,Missense_T153M exm432871 4 166924623 [T/C] NM_012464,NM_001204760 TLL1,TLL1 EXON Missense_V238A,Missense_V238A exm432877 4 166929095 [A/G] NM_012464,NM_001204760 TLL1,TLL1 EXON Missense_G271D,Missense_G271D rs1393856 4 166933854 [A/G] NM_012464,NM_001204760 TLL1,TLL1 Silent,Silent rs17689952 4 166939154 [A/G] NM_012464,NM_001204760 TLL1,TLL1 Silent,Silent rs17590344 4 166960363 [A/G] NM_012464 TLL1 Silent exm432897 4 166963248 [A/G] NM_012464 TLL1 EXON Missense_R444H rs17505781 4 166967504 [T/C] NM_012464 TLL1 Silent exm432906 4 166976307 [A/G] NM_012464 TLL1 EXON Missense_R535H exm432907 4 166976336 [A/G] NM_012464 TLL1 EXON Missense_I545V exm2240648 4 166976385 [T/C] NM_012464 TLL1 EXON Missense_T561I exm432913 4 166978362 [T/C] NM_012464 TLL1 EXON Missense_R583C exm432914 4 166978363 [A/G] NM_012464 TLL1 EXON Missense_R583H rs11730398 4 166980214 [T/C] NM_012464 TLL1 Silent exm2256460 4 166981211 [T/C] NM_012464 TLL1 EXON Synonymous_N626N exm2256462 4 166986900 [A/G] NM_012464 TLL1 EXON Synonymous_K691K exm432931 4 166986910 [A/G] NM_012464 TLL1 EXON Missense_A695T rs2292083 4 166996414 [A/G] NM_012464 TLL1 Silent rs17047228 4 166997752 [T/C] NM_012464 TLL1 Silent rs1503293 4 167010685 [T/C] NM_012464 TLL1 Silent exm432948 4 167012286 [A/G] NM_012464 TLL1 EXON Missense_S817G exm2256463 4 167012480 [T/C] NM_012464 TLL1 EXON Synonymous_A881A rs1995126 4 167014137 [A/G] NM_012464 TLL1 Silent rs4690833 4 167016664 [T/G] NM_012464 TLL1 Silent exm2069136 4 167020514 [C/G] NM_012464 TLL1 EXON Missense_Q914H exm432962 4 167020555 [A/G] NM_012464 TLL1 EXON Missense_R928Q exm432965 4 167020644 [A/G] NM_012464 TLL1 EXON Missense_T958A rs2291822 4 167020644 [A/G] NM_012464 TLL1 EXON Missense_T958A rs1497949 4 167024715 [A/G] NM_012464 TLL1 EXON Silent rs7694227 4 167036497 [T/G] rs12649030 4 167040095 [A/G] rs904246 4 167044948 [A/G] rs1391332 4 167049629 [T/C] rs6826343 4 167057609 [A/G] rs10013343 4 167071687 [A/G] rs2874823 4 167074691 [A/C] rs10517878 4 167079944 [T/C] rs13112070 4 167081486 [T/C] rs1497961 4 167082048 [T/G] rs17047336 4 167099916 [A/G] rs10028492 4 167104872 [T/C] rs1497956 4 167109588 [A/G] rs353867 4 167125430 [T/C] rs17047381 4 167143385 [T/C] rs382628 4 167179581 [T/G] rs421948 4 167185391 [A/G] rs1380497 4 167204445 [T/G] rs11726963 4 167229729 [A/G] rs425222 4 167232997 [A/G] rs368067 4 167237947 [T/C] rs7653953 4 167284116 [T/C] rs1080788 4 167300345 [A/G] rs1565649 4 167305701 [A/C] rs17644454 4 167310277 [A/G] rs1565650 4 167321777 [A/C] rs10440459 4 167329523 [A/G] rs1388879 4 167351495 [T/C] rs1602681 4 167356733 [A/G] rs6845532 4 167366409 [A/G] rs11100648 4 167366750 [T/C] rs4596200 4 167368812 [A/G] rs17047646 4 167395297 [T/C] exm2265789 4 167407097 [A/G] rs11100652 4 167408477 [T/C] rs992021 4 167421242 [T/C] rs978230 4 167422116 [T/C] rs17644709 4 167425798 [T/C] rs10034660 4 167437817 [T/C] rs875441 4 167448941 [T/G] rs6826162 4 167450233 [T/C] rs12506794 4 167454287 [T/C] rs11941399 4 167455493 [A/G] rs2131252 4 167460285 [T/C] rs7439050 4 167488592 [T/G] kgp3825261 4 167488643 [T/C] kgp2956539 4 167488773 [A/G] rs4691299 4 167514725 [T/G] rs7673384 4 167540460 [T/C] rs10034869 4 167550780 [T/C] rs28713613 4 167571068 [A/G] rs10032330 4 167594972 [A/G] rs10517900 4 167611941 [A/G] rs6553485 4 167622160 [A/G] exm2265890 4 167625748 [A/G] rs11943562 4 167652786 [T/C] rs7695294 4 167655803 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm432977 4 167656090 [G/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Missense_D339E,Missense_D428E,Missense_D388E,Missense_D335E,Missense_D333E,Missense_D311E,Missense_D431E,Missense_D380E exm432981 4 167656160 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Missense_I316T,Missense_I405T,Missense_I365T,Missense_I312T,Missense_I310T,Missense_I288T,Missense_I408T,Missense_I357T rs7678726 4 167661584 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm432995 4 167663171 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Missense_R235Q,Missense_R324Q,Missense_R284Q,Missense_R231Q,Missense_R229Q,Missense_R207Q,Missense_R327Q,Missense_R276Q rs7691894 4 167663664 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2198736 4 167671562 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7689440 4 167685213 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs6552223 4 167694282 [T/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10517903 4 167711854 [A/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2069161 4 167713405 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Missense_R120G,Missense_R209G,Silent,Missense_R116G,Missense_R114G,Missense_R92G,Missense_R212G,Missense_R161G,Missense_R209G rs1551491 4 167727136 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs921856 4 167745216 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7669089 4 167753460 [A/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7698485 4 167760175 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7440269 4 167789207 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7672200 4 167790958 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6553317 4 167816249 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10517908 4 167817905 [T/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10020692 4 167843608 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs8180142 4 167844096 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6828808 4 167853560 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6851188 4 167857369 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12644678 4 167864930 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6823924 4 167866712 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7682844 4 167867095 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7678090 4 167881906 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1896479 4 167899470 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2703841 4 167907991 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm433013 4 167921516 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Missense_R23W,Missense_R112W,Missense_R112W,Silent,Silent,Silent,Missense_R115W,Missense_R64W,Missense_R112W exm433015 4 167921525 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Missense_I20V,Missense_I109V,Missense_I109V,Silent,Silent,Silent,Missense_I112V,Missense_I61V,Missense_I109V rs17646122 4 167925272 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2703842 4 167938604 [A/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6818745 4 167956606 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs13137632 4 167982046 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6829378 4 167995689 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1427635 4 167999350 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1579404 4 168029135 [A/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs815213 4 168034257 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs815212 4 168036224 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12640303 4 168056478 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17703374 4 168080117 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10029237 4 168098935 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9312517 4 168139380 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6850485 4 168150023 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm433030 4 168155178 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Silent,Synonymous_S49S,Synonymous_S49S,Missense_L10P,Synonymous_S49S,Silent,Synonymous_S49S,Silent,Synonymous_S49S exm433031 4 168155233 [T/C] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Silent,Missense_G31E,Missense_G31E,Silent,Missense_G31E,Silent,Missense_G31E,Silent,Missense_G31E exm433033 4 168155251 [A/G] NM_001204354,NM_001040159,NM_001204356,NM_001204355,NM_001251967,NM_001204353,NM_016950,NM_001204352,NM_001204358 SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3,SPOCK3 EXON Silent,Missense_A25V,Missense_A25V,Silent,Missense_A25V,Silent,Missense_A25V,Silent,Missense_A25V rs4266319 4 168187191 [A/G] rs35520897 4 168204564 [T/C] rs10008779 4 168236901 [A/C] rs7665794 4 168240912 [T/C] rs2319140 4 168252561 [A/C] rs11942633 4 168256202 [A/G] rs11132983 4 168256989 [A/C] rs17703652 4 168259395 [A/G] rs2319270 4 168284744 [A/G] rs2319250 4 168288328 [A/G] rs17053204 4 168288641 [A/C] rs2319248 4 168292265 [T/C] exm2265791 4 168292322 [A/G] rs2319247 4 168292438 [A/G] rs2252135 4 168301771 [A/G] rs17601548 4 168308058 [T/G] rs2706826 4 168316748 [T/C] rs2952482 4 168338506 [A/G] rs4449438 4 168345139 [A/G] rs6553778 4 168351130 [T/C] rs13136714 4 168353430 [T/G] rs2706822 4 168362952 [A/G] rs2319242 4 168364638 [A/C] rs6854438 4 168375863 [T/G] rs17704183 4 168390470 [A/G] rs2169736 4 168401003 [T/C] rs1600106 4 168414411 [T/C] rs10517942 4 168431604 [T/C] rs1600103 4 168448425 [A/C] rs1817389 4 168455386 [T/C] rs1478241 4 168470029 [T/C] rs1914621 4 168490955 [T/C] rs1401014 4 168515495 [T/C] rs17053380 4 168520452 [T/C] rs7657818 4 168523786 [A/G] rs2169735 4 168545366 [A/C] rs1356511 4 168545610 [T/G] rs1533547 4 168564107 [A/G] rs12645719 4 168576098 [T/C] rs6850404 4 168576599 [A/C] rs17524463 4 168583227 [T/C] rs7683919 4 168590008 [T/G] exm2269986 4 168610140 [T/C] rs6816694 4 168610661 [T/C] rs12647151 4 168615218 [T/G] rs7677082 4 168616720 [A/C] rs11730375 4 168626439 [T/C] rs10471169 4 168628323 [T/C] rs4331802 4 168656374 [T/G] rs6848110 4 168671673 [A/G] rs6834993 4 168679456 [A/G] rs10002325 4 168705038 [A/G] rs13124475 4 168721503 [A/C] rs3885749 4 168726851 [T/C] rs1971169 4 168737612 [T/G] rs2007133 4 168764988 [T/C] rs17525095 4 168768607 [T/C] rs6848226 4 168769039 [A/G] rs304327 4 168793863 [T/C] rs12500312 4 168808600 [A/G] rs1562143 4 168810105 [T/C] rs9994795 4 168815347 [T/C] rs304351 4 168818443 [A/C] rs17525374 4 168818710 [A/G] rs6817742 4 168832046 [T/C] rs13107574 4 168850375 [A/G] rs17525479 4 168853211 [A/G] rs304341 4 168893805 [T/C] rs304331 4 168898057 [A/G] kgp11141257 4 168907791 [A/G] exm2269876 4 168965733 [T/G] rs11132000 4 168972967 [A/G] rs9999798 4 168977085 [T/C] rs11132008 4 168987754 [A/G] rs7662898 4 169008885 [A/G] rs6845007 4 169011633 [T/C] rs10517976 4 169019867 [A/G] NM_007193 ANXA10 Silent rs7653928 4 169035968 [T/C] NM_007193 ANXA10 Silent rs7662687 4 169046172 [A/G] NM_007193 ANXA10 Silent rs7699520 4 169049597 [A/G] NM_007193 ANXA10 Silent rs6832786 4 169056777 [T/C] NM_007193 ANXA10 Silent exm433045 4 169060675 [T/C] NM_007193 ANXA10 EXON Missense_R47C exm433047 4 169060721 [T/C] NM_007193 ANXA10 EXON Missense_M62T exm433048 4 169060729 [T/C] NM_007193 ANXA10 EXON Missense_R65W exm433049 4 169060730 [A/G] NM_007193 ANXA10 EXON Missense_R65Q rs4518204 4 169062297 [A/G] NM_007193 ANXA10 Silent exm433050 4 169083694 [A/C] NM_007193 ANXA10 EXON Missense_M71L newrs147539910 4 169085406 [T/G] NM_007193 ANXA10 EXON Nonsense_E123X variant.83378 4 169085421 [T/C] NM_007193 ANXA10 EXON Nonsense_R128X variant.83379 4 169085439 [T/C] NM_007193 ANXA10 EXON Nonsense_Q134X rs4405979 4 169086441 [A/G] NM_007193 ANXA10 EXON Synonymous_S148S rs978726 4 169090279 [A/G] NM_007193 ANXA10 Silent exm2069195 4 169098900 [A/G] NM_007193 ANXA10 EXON Missense_E164K exm433066 4 169099040 [A/G] NM_007193 ANXA10 Silent indel.83381 4 169099080 [I/D] NM_007193 ANXA10 EXON exm2069197 4 169099083 [A/C] NM_007193 ANXA10 EXON Missense_T193P exm433068 4 169099089 [G/C] NM_007193 ANXA10 EXON Missense_L195V exm433075 4 169100440 [T/C] NM_007193 ANXA10 EXON Missense_F234S exm433077 4 169100461 [T/C] NM_007193 ANXA10 EXON Missense_I241T variant.83385 4 169105800 [T/C] NM_007193 ANXA10 EXON Nonsense_R292X rs3828561 4 169108472 [A/C] NM_007193 ANXA10 Silent exm2240650 4 169108563 [T/C] NM_007193 ANXA10 EXON Missense_A318V rs17053750 4 169108921 [A/G] rs670905 4 169112742 [A/C] rs644911 4 169123534 [A/C] rs17611110 4 169140553 [T/C] NM_017631 DDX60 Silent exm433098 4 169141828 [A/C] NM_017631 DDX60 EXON Missense_A1673S exm433099 4 169141843 [A/C] NM_017631 DDX60 EXON Missense_L1668V variant.83389 4 169142880 [T/C] NM_017631 DDX60 Silent exm433104 4 169142960 [T/C] NM_017631 DDX60 EXON Missense_G1633R exm433106 4 169143007 [T/C] NM_017631 DDX60 EXON Missense_N1617S exm433108 4 169143032 [A/C] NM_017631 DDX60 EXON Missense_V1609F indel.83390 4 169146806 [I/D] NM_017631 DDX60 EXON exm433117 4 169146815 [T/C] NM_017631 DDX60 EXON Missense_D1516N exm2256469 4 169158869 [C/G] NM_017631 DDX60 EXON Synonymous_L1414L exm433149 4 169172157 [T/C] NM_017631 DDX60 EXON Missense_S1269N rs6857534 4 169174299 [T/C] NM_017631 DDX60 Silent rs17053871 4 169175069 [A/G] NM_017631 DDX60 Silent rs1671317 4 169181574 [T/C] NM_017631 DDX60 Silent exm433166 4 169182043 [A/G] NM_017631 DDX60 EXON Missense_M1124T exm433167 4 169182049 [G/C] NM_017631 DDX60 EXON Missense_R1122T newrs148697677 4 169183151 [T/C] NM_017631 DDX60 EXON Synonymous_Q1091Q exm433181 4 169183257 [A/G] NM_017631 DDX60 EXON Missense_I1056T variant.83395 4 169183829 [T/G] NM_017631 DDX60 Silent exm433184 4 169183895 [T/C] NM_017631 DDX60 EXON Missense_R1028Q rs958769 4 169185207 [A/G] NM_017631 DDX60 Silent exm433190 4 169188780 [T/C] NM_017631 DDX60 EXON Missense_I998V exm433195 4 169189033 [T/G] NM_017631 DDX60 EXON Missense_K963T exm433198 4 169189058 [T/C] NM_017631 DDX60 EXON Missense_V955M exm2069241 4 169190054 [A/G] NM_017631 DDX60 EXON Missense_P913S rs593342 4 169191536 [A/C] NM_017631 DDX60 Silent newrs137953561 4 169193193 [T/C] NM_017631 DDX60 Silent exm2256470 4 169195109 [A/C] NM_017631 DDX60 EXON Synonymous_V810V exm433216 4 169195117 [T/C] NM_017631 DDX60 EXON Missense_D808N variant.83397 4 169195234 [A/G] NM_017631 DDX60 EXON Nonsense_R769X exm433221 4 169196509 [A/G] NM_017631 DDX60 EXON Missense_P764L indel.83399 4 169196577 [I/D] NM_017631 DDX60 EXON exm433226 4 169196609 [T/C] NM_017631 DDX60 EXON Missense_V731I indel.83400 4 169196627 [D/I] NM_017631 DDX60 EXON exm433234 4 169197297 [T/C] NM_017631 DDX60 EXON Missense_V672M rs550625 4 169197297 [T/C] NM_017631 DDX60 EXON Missense_V672M exm433244 4 169201648 [A/C] NM_017631 DDX60 EXON Missense_F606V newrs150794038 4 169204597 [A/G] NM_017631 DDX60 EXON Synonymous_H574H exm433249 4 169204632 [T/G] NM_017631 DDX60 EXON Missense_K563Q exm433252 4 169206006 [T/C] NM_017631 DDX60 EXON Missense_S509N exm433265 4 169208334 [T/C] NM_017631 DDX60 EXON Missense_D402N exm433278 4 169212943 [T/C] NM_017631 DDX60 EXON Missense_I333V newrs138547096 4 169214938 [T/C] NM_017631 DDX60 EXON Synonymous_Q294Q exm433287 4 169214981 [T/C] NM_017631 DDX60 EXON Missense_G280E var_4_169227778 4 169227778 [A/G] NM_017631 DDX60 EXON Nonsense_R120X exm433301 4 169227787 [T/C] NM_017631 DDX60 EXON Missense_I117V exm433302 4 169227811 [T/G] NM_017631 DDX60 EXON Missense_L109I exm433307 4 169229168 [T/C] NM_017631 DDX60 EXON Missense_V85I rs497179 4 169237664 [A/G] NM_017631 DDX60 Silent rs6843318 4 169243273 [A/G] rs559203 4 169255850 [T/C] exm433315 4 169279300 [A/G] NM_001012967 DDX60L EXON Missense_X1707Q exm433317 4 169279303 [T/C] NM_001012967 DDX60L EXON Missense_E1706K variant.83408 4 169279349 [A/C] NM_001012967 DDX60L EXON Nonsense_Y1690X exm433322 4 169282315 [T/C] NM_001012967 DDX60L EXON Missense_N1659S exm433323 4 169282355 [T/C] NM_001012967 DDX60L EXON Missense_M1646V rs10005156 4 169284960 [T/C] NM_001012967 DDX60L Silent indel.83409 4 169292871 [D/I] NM_001012967 DDX60L EXON exm433330 4 169292896 [T/C] NM_001012967 DDX60L EXON Missense_G1599S exm2069295 4 169292905 [A/G] NM_001012967 DDX60L EXON Missense_R1596C rs13145897 4 169293182 [A/G] NM_001012967 DDX60L Silent variant.83410 4 169294816 [A/C] NM_001012967 DDX60L Silent exm433338 4 169294896 [T/C] NM_001012967 DDX60L EXON Missense_G1566E rs12509086 4 169297132 [A/G] NM_001012967 DDX60L Silent rs2046770 4 169298000 [T/C] NM_001012967 DDX60L Silent exm433347 4 169299528 [T/C] NM_001012967 DDX60L EXON Missense_N1488D exm433350 4 169299588 [T/C] NM_001012967 DDX60L EXON Missense_V1468M exm433351 4 169299603 [T/C] NM_001012967 DDX60L EXON Missense_V1463M exm433352 4 169299627 [T/C] NM_001012967 DDX60L Silent exm433356 4 169300618 [T/G] NM_001012967 DDX60L EXON Missense_A1420E variant.83412 4 169300876 [T/C] NM_001012967 DDX60L Silent exm433359 4 169300938 [T/C] NM_001012967 DDX60L EXON Missense_R1387Q variant.83413 4 169300939 [A/G] NM_001012967 DDX60L EXON Nonsense_R1387X exm433365 4 169305860 [A/G] NM_001012967 DDX60L EXON Missense_P1340L indel.83414 4 169305866 [D/I] NM_001012967 DDX60L EXON rs902003 4 169306106 [A/C] NM_001012967 DDX60L Silent rs3762853 4 169307654 [A/G] NM_001012967 DDX60L Silent rs4692654 4 169314140 [A/G] NM_001012967 DDX60L Silent exm433377 4 169315671 [A/G] NM_001012967 DDX60L EXON Missense_M1252T exm433379 4 169315740 [T/C] NM_001012967 DDX60L EXON Missense_R1229Q exm433380 4 169315747 [A/G] NM_001012967 DDX60L EXON Nonsense_R1227X rs3749499 4 169315760 [A/C] NM_001012967 DDX60L EXON Missense_E1222D exm433383 4 169315760 [A/C] NM_001012967 DDX60L EXON Missense_E1222D variant.83417 4 169315769 [T/C] NM_001012967 DDX60L Silent rs3828494 4 169316026 [A/G] NM_001012967 DDX60L Silent variant.83418 4 169317105 [T/C] NM_001012967 DDX60L Silent exm433384 4 169317117 [T/G] NM_001012967 DDX60L EXON Missense_K1217T exm433390 4 169317225 [T/C] NM_001012967 DDX60L EXON Missense_Y1181C rs9284933 4 169323978 [A/G] NM_001012967 DDX60L Silent rs6853665 4 169324016 [A/G] NM_001012967 DDX60L Silent var_4_169327782 4 169327782 [A/G] NM_001012967 DDX60L EXON Nonsense_Q1019X rs1387330 4 169329321 [A/G] NM_001012967 DDX60L Silent rs11942034 4 169331408 [T/C] NM_001012967 DDX60L Silent newrs115873308 4 169336554 [T/C] NM_001012967 DDX60L Silent exm433415 4 169336591 [T/A] NM_001012967 DDX60L EXON Missense_F983I exm433416 4 169336662 [T/C] NM_001012967 DDX60L EXON Missense_Y959C exm433417 4 169336668 [A/G] NM_001012967 DDX60L EXON Missense_V957A exm433419 4 169336811 [A/G] NM_001012967 DDX60L EXON Missense_L956F rs6848102 4 169338127 [T/C] NM_001012967 DDX60L Silent exm433429 4 169340532 [A/G] NM_001012967 DDX60L EXON Missense_P844L exm433432 4 169341434 [T/C] NM_001012967 DDX60L EXON Missense_C831Y exm433433 4 169341435 [A/G] NM_001012967 DDX60L EXON Missense_C831R exm433434 4 169341450 [A/C] NM_001012967 DDX60L EXON Missense_F826V exm433442 4 169341519 [A/G] NM_001012967 DDX60L EXON Nonsense_Q803X exm433449 4 169343014 [A/G] NM_001012967 DDX60L EXON Missense_V764A exm433450 4 169343015 [T/C] NM_001012967 DDX60L EXON Missense_V764I exm433452 4 169343044 [A/G] NM_001012967 DDX60L EXON Missense_V754A indel.83424 4 169343057 [D/I] NM_001012967 DDX60L EXON exm433453 4 169343061 [T/C] NM_001012967 DDX60L Silent exm433456 4 169343769 [T/C] NM_001012967 DDX60L EXON Missense_R717Q exm433457 4 169343770 [A/G] NM_001012967 DDX60L EXON Missense_R717W exm433463 4 169348229 [T/C] NM_001012967 DDX60L EXON Missense_R641Q exm433464 4 169348230 [A/G] NM_001012967 DDX60L EXON Nonsense_R641X exm2069343 4 169348307 [G/C] NM_001012967 DDX60L EXON Missense_C615S exm433467 4 169348320 [A/C] NM_001012967 DDX60L EXON Missense_Y611D indel.83426 4 169348358 [I/D] NM_001012967 DDX60L EXON exm433469 4 169348404 [T/C] NM_001012967 DDX60L EXON Missense_A583T rs17540470 4 169349568 [T/C] NM_001012967 DDX60L Silent exm433475 4 169351673 [A/G] NM_001012967 DDX60L EXON Missense_R545W exm2069347 4 169351690 [A/G] NM_001012967 DDX60L EXON Missense_I539T exm433481 4 169353717 [T/C] NM_001012967 DDX60L EXON Missense_D469N rs11728342 4 169361897 [T/C] NM_001012967 DDX60L Silent 1KG_4_169362513 4 169362513 [D/I] NM_001012967 DDX60L EXON exm433486 4 169362557 [C/G] NM_001012967 DDX60L EXON Missense_V409L variant.83429 4 169362645 [T/C] NM_001012967 DDX60L Silent exm433505 4 169369920 [T/C] NM_001012967 DDX60L EXON Missense_C336Y rs12507582 4 169369920 [T/C] NM_001012967 DDX60L EXON Missense_C336Y rs2634951 4 169372709 [T/C] NM_001012967 DDX60L Silent exm433513 4 169377257 [A/G] NM_001012967 DDX60L EXON Missense_S257L exm2069361 4 169377270 [A/G] NM_001012967 DDX60L EXON Missense_W253R indel.83431 4 169377289 [I/D] NM_001012967 DDX60L EXON exm433516 4 169379135 [A/G] NM_001012967 DDX60L EXON Missense_Y211H variant.83433 4 169382848 [A/G] NM_001012967 DDX60L Silent exm433518 4 169382849 [A/C] NM_001012967 DDX60L Silent variant.83435 4 169382996 [A/G] NM_001012967 DDX60L EXON Nonsense_Q154X exm433526 4 169383050 [C/G] NM_001012967 DDX60L EXON Missense_E136Q exm2256471 4 169383093 [T/C] NM_001012967 DDX60L EXON Synonymous_T121T exm433527 4 169383140 [A/C] NM_001012967 DDX60L EXON Missense_A106S rs10004447 4 169390717 [T/C] NM_001012967 DDX60L Silent variant.83437 4 169393846 [T/C] NM_001012967 DDX60L Silent rs2634959 4 169398762 [A/G] NM_001012967 DDX60L Silent rs13353710 4 169401199 [A/G] NM_001012967 DDX60L Silent exm-rs2710833 4 169409958 [T/C] rs2712135 4 169419849 [A/G] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs2712149 4 169422705 [T/C] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs1962363 4 169428546 [T/C] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent exm2069377 4 169432663 [T/G] NM_016081,NM_001166108 PALLD,PALLD EXON Missense_G3V,Missense_G3V exm2256472 4 169432673 [T/C] NM_016081,NM_001166108 PALLD,PALLD EXON Synonymous_S6S,Synonymous_S6S exm433555 4 169432951 [A/C] NM_016081,NM_001166108 PALLD,PALLD EXON Nonsense_S99X,Nonsense_S99X exm433560 4 169433020 [T/C] NM_016081,NM_001166108 PALLD,PALLD EXON Missense_P122L,Missense_P122L exm433563 4 169433083 [A/G] NM_016081,NM_001166108 PALLD,PALLD EXON Missense_R143H,Missense_R143H exm433566 4 169433122 [T/C] NM_016081,NM_001166108 PALLD,PALLD EXON Missense_T156M,Missense_T156M exm433571 4 169433157 [G/C] NM_016081,NM_001166108 PALLD,PALLD EXON Missense_L168V,Missense_L168V exm433572 4 169433194 [T/C] NM_016081,NM_001166108 PALLD,PALLD EXON Missense_T180I,Missense_T180I exm433576 4 169433326 [T/C] NM_016081,NM_001166108 PALLD,PALLD EXON Missense_M224T,Missense_M224T exm433577 4 169433327 [A/G] NM_016081,NM_001166108 PALLD,PALLD EXON Missense_M224I,Missense_M224I rs7673220 4 169433333 [T/C] NM_016081,NM_001166108 PALLD,PALLD EXON Synonymous_D226D,Synonymous_D226D exm433582 4 169433386 [A/G] NM_016081,NM_001166108 PALLD,PALLD EXON Missense_Q244R,Missense_Q244R exm433583 4 169433419 [A/G] NM_016081,NM_001166108 PALLD,PALLD EXON Missense_R255H,Missense_R255H exm433585 4 169433470 [A/G] NM_016081,NM_001166108 PALLD,PALLD EXON Missense_R272Q,Missense_R272Q exm433587 4 169433511 [A/G] NM_016081,NM_001166108 PALLD,PALLD EXON Missense_S286G,Missense_S286G rs6841109 4 169434602 [A/G] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs11939452 4 169439280 [T/C] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs9312333 4 169448628 [T/C] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs17054309 4 169454317 [A/C] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs13145788 4 169457246 [T/C] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs1986369 4 169457744 [T/C] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs10023820 4 169459736 [T/G] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs6836618 4 169464134 [T/C] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs6857016 4 169474972 [T/C] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs17707180 4 169475264 [T/C] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs11132322 4 169476590 [T/C] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs17541413 4 169481874 [A/G] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs10022111 4 169484303 [A/G] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs10004025 4 169491370 [T/C] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs7693542 4 169494427 [T/C] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs6815330 4 169503531 [T/C] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs2874112 4 169506877 [T/C] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs17707379 4 169509103 [A/G] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs2319909 4 169509436 [A/G] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent exm-rs17054392 4 169530258 [T/C] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs4389538 4 169530339 [T/G] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs12650216 4 169532319 [T/G] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs2710851 4 169538443 [T/C] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs2723688 4 169539216 [A/G] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs2723696 4 169551542 [A/G] NM_016081,NM_001166108 PALLD,PALLD Silent,Silent rs4314247 4 169584060 [A/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent exm433592 4 169589341 [T/A] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD EXON Missense_R303S,Missense_R303S,Silent exm433596 4 169589431 [T/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD EXON Missense_E333D,Missense_E333D,Silent exm433598 4 169589454 [A/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD EXON Missense_R341H,Missense_R341H,Silent exm433599 4 169589472 [T/C] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD EXON Missense_T347M,Missense_T347M,Silent rs2723708 4 169592669 [A/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs11933816 4 169595421 [A/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs13137200 4 169596649 [A/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent exm433609 4 169606649 [A/C] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD EXON Missense_T425N,Missense_T425N,Missense_T43N exm433610 4 169606664 [A/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD EXON Missense_R430Q,Missense_R430Q,Missense_R48Q variant.83440 4 169606711 [T/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent exm433618 4 169611812 [A/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD EXON Missense_R465H,Missense_R465H,Missense_R83H rs4425335 4 169618128 [A/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs6842732 4 169618430 [T/C] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs4280700 4 169618568 [T/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs12649675 4 169622650 [A/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent exm2275778 4 169630202 [A/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD EXON Missense_A509T,Missense_A509T,Missense_A127T variant.83441 4 169630299 [T/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent exm433629 4 169632959 [T/C] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD EXON Missense_R617C,Missense_R617C,Missense_R235C rs4635780 4 169634434 [T/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs7670597 4 169639326 [A/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs9884230 4 169641425 [T/C] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs11132434 4 169644844 [A/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs7659644 4 169656656 [A/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs1500800 4 169657096 [T/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs6857155 4 169667766 [T/C] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs6817535 4 169670530 [A/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs17542688 4 169689516 [T/C] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs12510663 4 169692809 [A/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs999958 4 169698873 [A/C] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs7688994 4 169703162 [A/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs17614733 4 169703442 [T/C] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs1875296 4 169725161 [T/C] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs6854137 4 169728236 [T/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs10005789 4 169740931 [A/G] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs1392750 4 169745078 [T/C] NM_016081,NM_001166108,NM_001166109 PALLD,PALLD,PALLD Silent,Silent,Silent rs1318822 4 169764489 [T/C] NM_016081,NM_001166108,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD Silent,Silent,Silent,Silent exm2269987 4 169772342 [T/C] NM_016081,NM_001166108,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD Silent,Silent,Silent,Silent rs12643097 4 169801952 [A/G] NM_016081,NM_001166108,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD Silent,Silent,Silent,Silent rs1875299 4 169812782 [A/C] NM_016081,NM_001166108,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD Silent,Silent,Silent,Silent rs2047633 4 169815472 [T/G] NM_016081,NM_001166108,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD Silent,Silent,Silent,Silent variant.83443 4 169815720 [T/C] NM_016081,NM_001166108,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD Silent,Silent,Silent,Silent indel.83442 4 169815721 [I/D] NM_016081,NM_001166108,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD variant.83444 4 169815721 [A/G] NM_016081,NM_001166108,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD Silent,Silent,Silent,Silent rs1566496 4 169819067 [A/C] NM_016081,NM_001166108,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD Silent,Silent,Silent,Silent exm433654 4 169819786 [T/C] NM_016081,NM_001166108,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD EXON Missense_M781T,Missense_M798T,Missense_M399T,Missense_M294T exm433656 4 169819807 [T/G] NM_016081,NM_001166108,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD EXON Missense_I788S,Missense_I805S,Missense_I406S,Missense_I301S exm433665 4 169835150 [T/A] NM_016081,NM_001166108,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD EXON Missense_S882T,Missense_S899T,Missense_S500T,Missense_S395T exm433666 4 169837047 [G/C] NM_016081,NM_001166108,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD EXON Missense_P890A,Missense_P907A,Missense_P508A,Missense_P403A exm2069427 4 169837051 [A/G] NM_016081,NM_001166108,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD EXON Missense_R891H,Missense_R908H,Missense_R509H,Missense_R404H rs4396955 4 169845720 [T/C] NM_016081,NM_001166108,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD Silent,Silent,Silent,Silent exm2240667 4 169847374 [T/G] NM_016081,NM_001166108,NM_001166109,NM_001166110 PALLD,PALLD,PALLD,PALLD EXON Silent,Silent,Missense_H724Q,Missense_H619Q kgp10945711 4 169850155 [A/C] rs10518037 4 169899023 [T/C] rs17054604 4 169909593 [A/G] NM_032783 CBR4 EXON Silent exm433696 4 169911312 [A/G] NM_032783 CBR4 EXON Missense_L235F exm433705 4 169911396 [T/C] NM_032783 CBR4 EXON Missense_I207V exm433707 4 169911458 [A/G] NM_032783 CBR4 EXON Missense_T186M exm433708 4 169911465 [C/G] NM_032783 CBR4 EXON Missense_D184H rs898002 4 169917245 [T/C] NM_032783 CBR4 Silent exm433711 4 169923227 [A/G] NM_032783 CBR4 EXON Missense_A177V newrs139244533 4 169923324 [A/G] NM_032783 CBR4 EXON Nonsense_Q145X indel.83447 4 169927992 [D/I] NM_032783 CBR4 EXON exm433728 4 169928842 [T/G] NM_032783 CBR4 EXON Missense_L70M exm433734 4 169928890 [T/A] NM_032783 CBR4 EXON Missense_S54C variant.83448 4 169931207 [A/G] NM_032783 CBR4 EXON Nonsense_R12X rs13147728 4 169960188 [T/G] rs7664949 4 169969076 [T/C] rs17054702 4 169979856 [T/C] exm2256475 4 169989993 [T/C] rs4692561 4 169990206 [A/C] rs4692694 4 169991158 [A/G] rs6844814 4 170008947 [A/G] rs17626617 4 170013910 [T/C] rs2608852 4 170014786 [T/C] rs6553418 4 170019039 [A/G] NM_020870 SH3RF1 Silent exm433770 4 170037572 [A/G] NM_020870 SH3RF1 EXON Missense_P663S exm433773 4 170037611 [T/G] NM_020870 SH3RF1 EXON Missense_S650R exm433774 4 170037658 [A/G] NM_020870 SH3RF1 EXON Missense_A634V exm433800 4 170038932 [T/C] NM_020870 SH3RF1 EXON Missense_A507T indel.83449 4 170042107 [I/D] NM_020870 SH3RF1 EXON exm433808 4 170042130 [T/C] NM_020870 SH3RF1 EXON Missense_I453V exm433828 4 170057659 [A/G] NM_020870 SH3RF1 EXON Missense_S293F rs6553420 4 170059252 [A/G] NM_020870 SH3RF1 Silent rs9684601 4 170064574 [A/G] NM_020870 SH3RF1 Silent rs10866333 4 170068750 [A/G] NM_020870 SH3RF1 Silent rs7666351 4 170072881 [A/C] NM_020870 SH3RF1 Silent exm433842 4 170077691 [T/C] NM_020870 SH3RF1 EXON Missense_G178E exm433843 4 170077770 [C/G] NM_020870 SH3RF1 EXON Missense_D152H rs10518039 4 170077789 [A/G] NM_020870 SH3RF1 EXON Synonymous_Y145Y rs2706740 4 170115171 [A/G] NM_020870 SH3RF1 Silent rs1876398 4 170146632 [A/G] NM_020870 SH3RF1 Silent rs2660404 4 170149701 [A/C] NM_020870 SH3RF1 Silent rs2331608 4 170153297 [T/C] NM_020870 SH3RF1 Silent rs1507166 4 170175324 [A/G] NM_020870 SH3RF1 Silent exm433854 4 170190188 [A/C] NM_020870 SH3RF1 EXON Missense_G59V newrs150585496 4 170190228 [A/C] NM_020870 SH3RF1 EXON Nonsense_E46X rs13112591 4 170203848 [A/C] rs6841955 4 170212576 [T/C] rs10009607 4 170212887 [T/G] rs4692709 4 170228549 [T/C] rs6815837 4 170233946 [A/G] rs11736716 4 170235438 [T/C] rs10017932 4 170237660 [A/G] rs13106653 4 170266486 [T/C] rs6845753 4 170286096 [A/G] rs11132803 4 170297709 [A/G] rs4544675 4 170312589 [A/G] exm2069490 4 170322819 [A/G] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Synonymous_N1092N,Synonymous_N1161N,Synonymous_N1145N,Synonymous_N1189N,Synonymous_N1117N exm433890 4 170345879 [T/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_H919R,Missense_H988R,Missense_H972R,Missense_H1016R,Missense_H944R rs7655924 4 170345893 [T/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Synonymous_P914P,Synonymous_P983P,Synonymous_P967P,Synonymous_P1011P,Synonymous_P939P variant.83456 4 170347297 [T/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_E895K,Missense_E964K,Missense_E948K,Missense_E992K,Missense_E920K indel.83457 4 170347356 [I/D] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON exm433902 4 170359267 [C/G] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_Q814E,Missense_Q883E,Missense_Q867E,Missense_Q911E,Missense_Q839E exm433904 4 170359351 [A/G] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_C786R,Missense_C855R,Missense_C839R,Missense_C883R,Missense_C811R exm433906 4 170359412 [T/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 Silent,Silent,Silent,Silent,Silent rs7666939 4 170360674 [T/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 Silent,Silent,Silent,Silent,Silent rs4334719 4 170362151 [T/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 Silent,Silent,Silent,Silent,Silent rs4353861 4 170367235 [T/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 Silent,Silent,Silent,Silent,Silent indel.83459 4 170384425 [D/I] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON variant.83460 4 170384548 [T/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 Silent,Silent,Silent,Silent,Silent exm433914 4 170398386 [A/G] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_H678Y,Missense_H747Y,Missense_H731Y,Missense_H775Y,Missense_H703Y exm433917 4 170398454 [T/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_E655G,Missense_E724G,Missense_E708G,Missense_E752G,Missense_E680G exm433918 4 170398474 [A/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_N648K,Missense_N717K,Missense_N701K,Missense_N745K,Missense_N673K exm433919 4 170398485 [A/G] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_R645C,Missense_R714C,Missense_R698C,Missense_R742C,Missense_R670C exm433923 4 170398627 [A/G] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_R624W,Missense_R693W,Missense_R677W,Missense_R721W,Missense_R649W exm433924 4 170400556 [T/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_V616M,Missense_V685M,Missense_V669M,Missense_V713M,Missense_V641M exm433926 4 170400583 [T/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_V607I,Missense_V676I,Missense_V660I,Missense_V704I,Missense_V632I exm433931 4 170428901 [T/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_A529T,Missense_A598T,Missense_A582T,Missense_A626T,Missense_A554T exm2256476 4 170459044 [A/G] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Synonymous_A458A,Synonymous_A527A,Synonymous_A483A,Synonymous_A527A,Synonymous_A483A exm433941 4 170476887 [T/G] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Silent,Missense_Q516K,Silent,Missense_Q516K,Silent exm433942 4 170476982 [T/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Silent,Missense_R484H,Silent,Missense_R484H,Silent exm433945 4 170477125 [A/G] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_A438V,Missense_A463V,Missense_A463V,Missense_A463V,Missense_A463V exm433956 4 170483347 [T/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_A341T,Missense_A341T,Missense_A341T,Missense_A341T,Missense_A341T rs10032225 4 170486710 [A/G] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 Silent,Silent,Silent,Silent,Silent exm433961 4 170498175 [A/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_I308M,Missense_I308M,Missense_I308M,Missense_I308M,Missense_I308M exm433965 4 170506525 [T/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_R261H,Missense_R261H,Missense_R261H,Missense_R261H,Missense_R261H exm433966 4 170506526 [A/G] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_R261C,Missense_R261C,Missense_R261C,Missense_R261C,Missense_R261C exm433970 4 170506621 [T/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Missense_Y229C,Missense_Y229C,Missense_Y229C,Missense_Y229C,Missense_Y229C variant.83465 4 170508709 [T/C] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 Silent,Silent,Silent,Silent,Silent exm433978 4 170509870 [A/G] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 EXON Nonsense_R161X,Nonsense_R161X,Nonsense_R161X,Nonsense_R161X,Nonsense_R161X rs4235024 4 170511551 [T/G] NM_001199399,NM_012224,NM_001199398,NM_001199397,NM_001199400 NEK1,NEK1,NEK1,NEK1,NEK1 Silent,Silent,Silent,Silent,Silent rs11937417 4 170549935 [A/G] NM_001829,NM_001243372,NM_173872 CLCN3,CLCN3,CLCN3 Silent,Silent,Silent rs10023330 4 170558032 [T/C] NM_001829,NM_001243372,NM_173872 CLCN3,CLCN3,CLCN3 Silent,Silent,Silent rs10866341 4 170568789 [A/G] NM_001829,NM_001243372,NM_173872 CLCN3,CLCN3,CLCN3 Silent,Silent,Silent rs13435853 4 170590989 [A/G] NM_001829,NM_001243372,NM_173872,NM_001243374 CLCN3,CLCN3,CLCN3,CLCN3 Silent,Silent,Silent,Silent rs11939557 4 170609251 [T/C] NM_001829,NM_001243372,NM_173872,NM_001243374 CLCN3,CLCN3,CLCN3,CLCN3 Silent,Silent,Silent,Silent var_4_170610381 4 170610381 [A/G] NM_001829,NM_001243372,NM_173872,NM_001243374 CLCN3,CLCN3,CLCN3,CLCN3 EXON Synonymous_E202E,Synonymous_E202E,Synonymous_E202E,Synonymous_E175E exm434026 4 170625324 [T/C] NM_001829,NM_001243372,NM_173872,NM_001243374 CLCN3,CLCN3,CLCN3,CLCN3 EXON Missense_A580V,Missense_A553V,Missense_A580V,Missense_A553V exm-rs10520163 4 170626552 [T/C] NM_001829,NM_001243372,NM_173872,NM_001243374 CLCN3,CLCN3,CLCN3,CLCN3 Silent,Silent,Silent,Silent rs10520163 4 170626552 [T/C] NM_001829,NM_001243372,NM_173872,NM_001243374 CLCN3,CLCN3,CLCN3,CLCN3 Silent,Silent,Silent,Silent exm2265793 4 170628524 [A/G] NM_001829,NM_001243372,NM_173872,NM_001243374 CLCN3,CLCN3,CLCN3,CLCN3 Silent,Silent,Silent,Silent exm434037 4 170634292 [A/G] NM_001829,NM_001243372,NM_173872,NM_001243374 CLCN3,CLCN3,CLCN3,CLCN3 EXON Missense_T738A,Missense_T711A,Missense_T738A,Missense_T711A indel.83470 4 170638974 [I/D] NM_001829,NM_001243372,NM_173872,NM_001243374 CLCN3,CLCN3,CLCN3,CLCN3 EXON exm434049 4 170641112 [A/G] NM_001829,NM_001243372,NM_173872,NM_001243374 CLCN3,CLCN3,CLCN3,CLCN3 EXON Synonymous_T807T,Synonymous_T780T,Missense_G833S,Synonymous_T780T exm434050 4 170641176 [T/C] NM_001829,NM_001243372,NM_173872,NM_001243374 CLCN3,CLCN3,CLCN3,CLCN3 EXON Silent,Silent,Missense_T854M,Silent rs4692742 4 170651811 [T/C] NM_017867 C4orf27 Silent rs7684296 4 170662275 [T/C] NM_017867 C4orf27 Silent indel.83474 4 170663115 [D/I] NM_017867 C4orf27 EXON exm434072 4 170663235 [T/C] NM_017867 C4orf27 EXON Missense_R174K exm434073 4 170663247 [A/G] NM_017867 C4orf27 EXON Missense_T170M exm434080 4 170669965 [T/C] NM_017867 C4orf27 EXON Missense_V143I rs10020331 4 170670592 [T/C] NM_017867 C4orf27 Silent exm434085 4 170671813 [A/T] NM_017867 C4orf27 EXON Missense_H91L variant.83477 4 170674923 [A/G] NM_017867 C4orf27 EXON Nonsense_R38X indel.83478 4 170674944 [D/I] NM_017867 C4orf27 EXON exm2261658 4 170676328 [A/G] NM_017867 C4orf27 Silent exm434094 4 170678985 [A/G] NM_017867 C4orf27 EXON Missense_P15L rs9312454 4 170688979 [A/G] rs7673018 4 170690690 [T/C] rs4692751 4 170706770 [A/G] rs10866343 4 170754412 [A/G] rs6810718 4 170778702 [A/C] rs6811785 4 170782760 [A/G] rs10004128 4 170801265 [T/C] rs11132826 4 170801990 [T/C] rs4077273 4 170807597 [T/C] rs11132829 4 170814998 [T/C] rs12643868 4 170824005 [A/G] rs2002221 4 170842930 [A/G] NR_037878 LOC100506085 Silent rs10010614 4 170857504 [T/C] NR_037878 LOC100506085 Silent rs7684116 4 170859150 [A/G] NR_037878 LOC100506085 Silent rs4692771 4 170867341 [T/C] NR_037878 LOC100506085 Silent rs10008105 4 170872226 [T/C] NR_037878 LOC100506085 Silent rs6553477 4 170877933 [T/C] NR_037878 LOC100506085 Silent rs6821170 4 170880049 [T/C] NR_037878 LOC100506085 Silent rs11723530 4 170880883 [A/G] NR_037878 LOC100506085 Silent rs13137856 4 170883505 [T/C] NR_037878 LOC100506085 Silent rs13118628 4 170894451 [T/C] NR_037878 LOC100506085 Silent rs6553482 4 170896626 [T/C] NR_037878 LOC100506085 Silent rs17055338 4 170900925 [A/C] rs10033615 4 170901019 [T/C] rs6835378 4 170909908 [T/C] NM_021647,NM_001009554 MFAP3L,MFAP3L EXON Silent,Silent rs7661337 4 170912278 [A/G] NM_021647,NM_001009554 MFAP3L,MFAP3L EXON Silent,Silent exm434099 4 170912549 [T/C] NM_021647,NM_001009554 MFAP3L,MFAP3L EXON Missense_I404V,Missense_I301V exm434106 4 170912710 [A/G] NM_021647,NM_001009554 MFAP3L,MFAP3L EXON Missense_A350V,Missense_A247V exm434111 4 170912791 [A/G] NM_021647,NM_001009554 MFAP3L,MFAP3L EXON Missense_P323L,Missense_P220L exm434136 4 170913437 [T/C] NM_021647,NM_001009554 MFAP3L,MFAP3L EXON Missense_G108S,Missense_G5S exm434140 4 170926898 [A/C] NM_021647 MFAP3L EXON Missense_G44V exm434141 4 170926905 [A/C] NM_021647 MFAP3L EXON Missense_V42F exm434142 4 170926908 [T/C] NM_021647 MFAP3L EXON Missense_V41M rs6841912 4 170927723 [T/G] NM_021647 MFAP3L Silent rs6842442 4 170933203 [T/C] NM_021647 MFAP3L Silent rs6821231 4 170959988 [T/C] rs2727525 4 170960062 [A/C] var_4_170983042 4 170983042 [A/C] NM_016228,NM_182662 AADAT,AADAT Silent,Silent exm434156 4 170987567 [G/C] NM_016228,NM_182662 AADAT,AADAT EXON Missense_T342S,Missense_T342S exm434157 4 170987613 [T/C] NM_016228,NM_182662 AADAT,AADAT EXON Missense_S327G,Missense_S327G rs2279267 4 170990053 [T/C] NM_016228,NM_182662 AADAT,AADAT Silent,Silent exm434168 4 170990375 [T/C] NM_016228,NM_182662 AADAT,AADAT EXON Missense_V243I,Missense_V243I rs10213032 4 171009360 [A/G] NM_016228,NM_182662 AADAT,AADAT Silent,Silent variant.83481 4 171010888 [T/C] NM_016228,NM_182662 AADAT,AADAT EXON Silent,Silent rs11736939 4 171031170 [T/C] rs10000291 4 171034742 [T/C] rs2101065 4 171049915 [A/G] rs519847 4 171055490 [A/G] rs519160 4 171055510 [T/C] rs540256 4 171062113 [T/G] rs3846272 4 171076562 [A/G] exm2256479 4 171089295 [T/C] rs11132836 4 171093594 [A/G] rs11132838 4 171095168 [T/C] rs1522605 4 171110103 [A/G] rs1581421 4 171124116 [A/C] rs1718800 4 171127756 [T/C] rs1915509 4 171152392 [A/G] rs10028534 4 171175522 [A/G] rs4692812 4 171180273 [A/G] rs12647693 4 171204964 [A/G] rs12649329 4 171206696 [A/G] rs1717072 4 171215850 [A/G] rs17629990 4 171224046 [A/G] rs17548053 4 171234457 [A/G] rs6814090 4 171244684 [T/C] rs4692824 4 171288473 [A/G] rs1879500 4 171292771 [T/C] rs1919502 4 171297661 [A/G] rs1528955 4 171307124 [A/G] rs1919506 4 171318582 [A/C] rs7670352 4 171327181 [A/G] rs1609380 4 171340897 [T/C] rs2877520 4 171351736 [T/C] rs1581676 4 171402225 [A/G] rs2661081 4 171420400 [A/G] rs7662606 4 171426045 [T/C] rs2661071 4 171448717 [T/C] rs371100 4 171471531 [A/G] rs446973 4 171499216 [A/G] rs413812 4 171509449 [T/C] rs13129109 4 171525130 [A/G] rs4692612 4 171537901 [T/G] rs1596248 4 171576294 [T/C] rs7676680 4 171592467 [A/G] rs7681130 4 171596102 [A/C] rs10012640 4 171603479 [T/C] rs11935380 4 171619313 [A/G] rs11936596 4 171620249 [A/G] rs17056008 4 171628342 [T/C] rs9312487 4 171634702 [T/C] rs9312489 4 171637914 [A/C] rs17730512 4 171666694 [T/C] exm2265794 4 171672038 [A/G] rs11931207 4 171673765 [A/G] rs10084822 4 171680223 [T/G] rs10007705 4 171692801 [T/C] rs1589560 4 171694360 [T/C] rs4615138 4 171713039 [A/G] rs10012933 4 171722438 [A/G] exm2265892 4 171743216 [A/G] rs10001385 4 171751059 [T/C] rs1432094 4 171762217 [T/C] rs1560566 4 171788150 [T/C] rs1432089 4 171790788 [T/C] rs7673440 4 171807535 [A/C] rs6821882 4 171821091 [T/G] rs2332074 4 171821267 [T/C] rs6850897 4 171842726 [A/G] rs28666968 4 171853059 [A/G] rs11725347 4 171860973 [A/C] rs13121066 4 171872498 [A/G] rs7682721 4 171914470 [T/G] rs1508508 4 171936344 [T/C] rs1949007 4 171957000 [A/G] exm2269879 4 171963233 [T/C] NR_038838 LOC100506122 Silent rs10006864 4 171963233 [T/C] NR_038838 LOC100506122 Silent rs10022424 4 171996232 [A/G] rs4450884 4 172002025 [T/G] rs13136443 4 172027644 [A/G] rs17247383 4 172031172 [A/G] rs13137432 4 172033347 [T/C] rs1508511 4 172041735 [A/G] rs9997273 4 172055275 [T/C] rs10002593 4 172077524 [A/G] rs7673719 4 172083089 [A/G] rs715990 4 172108672 [T/C] rs6841957 4 172124768 [T/G] rs11132876 4 172133199 [T/C] rs6841319 4 172167031 [T/C] rs13145065 4 172167890 [A/G] rs7681428 4 172200213 [A/G] rs12503744 4 172203928 [A/C] rs11132894 4 172227195 [T/C] rs4298103 4 172229253 [A/G] rs13135574 4 172236706 [A/G] rs7664958 4 172269952 [T/G] rs2877640 4 172274229 [A/C] rs9994171 4 172275212 [T/C] rs12649451 4 172315768 [T/C] rs11132900 4 172328758 [T/C] rs3913189 4 172338295 [T/G] rs13120580 4 172352348 [T/G] rs7662060 4 172367126 [T/C] rs4692883 4 172367540 [A/C] rs7664076 4 172388728 [A/G] exm2265893 4 172388728 [A/G] rs17056947 4 172416533 [A/G] rs1358596 4 172432296 [A/C] rs1569217 4 172440126 [T/C] rs6857184 4 172451166 [T/G] exm2265795 4 172473450 [A/G] rs1569214 4 172473735 [T/C] rs1919491 4 172491284 [T/C] rs10009454 4 172498522 [T/G] rs10020087 4 172509887 [T/C] rs10005145 4 172516878 [A/G] rs10032355 4 172519824 [A/G] rs17057154 4 172525210 [T/C] rs6833580 4 172537391 [T/C] rs6847702 4 172540259 [T/C] rs9991140 4 172545173 [T/C] rs10015329 4 172557763 [T/G] rs9312509 4 172557879 [A/G] rs2172009 4 172559687 [T/C] rs1907084 4 172609720 [A/G] rs10020928 4 172647755 [T/C] rs768709 4 172651944 [T/G] kgp3652261 4 172656002 [T/G] kgp20680656 4 172658417 [A/G] rs1495288 4 172713976 [T/C] rs494770 4 172742577 [T/C] NM_001034845 GALNTL6 Silent rs10027752 4 172747852 [A/G] NM_001034845 GALNTL6 Silent rs580091 4 172750974 [A/G] NM_001034845 GALNTL6 Silent rs558129 4 172751111 [A/G] NM_001034845 GALNTL6 Silent rs11132917 4 172764187 [T/G] NM_001034845 GALNTL6 Silent rs7676508 4 172776138 [T/C] NM_001034845 GALNTL6 Silent rs12503485 4 172789426 [T/C] NM_001034845 GALNTL6 Silent rs1485867 4 172792316 [T/C] NM_001034845 GALNTL6 Silent rs6553597 4 172808394 [A/C] NM_001034845 GALNTL6 Silent rs4124044 4 172812489 [T/G] NM_001034845 GALNTL6 Silent rs718913 4 172816200 [A/G] NM_001034845 GALNTL6 Silent rs7696165 4 172846645 [A/G] NM_001034845 GALNTL6 Silent rs10005702 4 172849152 [T/C] NM_001034845 GALNTL6 Silent rs11931247 4 172849554 [T/C] NM_001034845 GALNTL6 Silent rs17057585 4 172858612 [A/C] NM_001034845 GALNTL6 Silent rs332995 4 172864640 [T/C] NM_001034845 GALNTL6 Silent rs17057610 4 172870192 [T/G] NM_001034845 GALNTL6 Silent rs6553603 4 172870885 [A/G] NM_001034845 GALNTL6 Silent rs405831 4 172872173 [A/G] NM_001034845 GALNTL6 Silent rs332969 4 172880449 [A/G] NM_001034845 GALNTL6 Silent exm2265796 4 172880449 [A/G] NM_001034845 GALNTL6 Silent rs409190 4 172893271 [T/G] NM_001034845 GALNTL6 Silent rs230 4 172896473 [T/C] NM_001034845 GALNTL6 Silent rs1979931 4 172929844 [A/G] NM_001034845 GALNTL6 Silent rs17057887 4 172943891 [A/G] NM_001034845 GALNTL6 Silent rs983560 4 172946287 [T/C] NM_001034845 GALNTL6 Silent rs12646854 4 172953080 [T/C] NM_001034845 GALNTL6 Silent rs7654286 4 172968055 [T/C] NM_001034845 GALNTL6 Silent rs1394860 4 172979002 [A/G] NM_001034845 GALNTL6 Silent rs13139421 4 172997356 [T/C] NM_001034845 GALNTL6 Silent rs2877689 4 172999916 [A/G] NM_001034845 GALNTL6 Silent rs13136240 4 173001831 [T/C] NM_001034845 GALNTL6 Silent rs6829575 4 173010013 [A/G] NM_001034845 GALNTL6 Silent rs1354631 4 173013636 [A/G] NM_001034845 GALNTL6 Silent rs6846244 4 173024088 [T/C] NM_001034845 GALNTL6 Silent rs2201113 4 173035260 [A/C] NM_001034845 GALNTL6 Silent rs10016776 4 173047549 [T/C] NM_001034845 GALNTL6 Silent rs6553608 4 173052098 [A/C] NM_001034845 GALNTL6 Silent rs6553610 4 173068658 [T/C] NM_001034845 GALNTL6 Silent rs12644997 4 173095500 [T/C] NM_001034845 GALNTL6 Silent rs2202281 4 173109636 [A/G] NM_001034845 GALNTL6 Silent rs9997484 4 173142594 [A/G] NM_001034845 GALNTL6 Silent rs836325 4 173152095 [A/G] NM_001034845 GALNTL6 Silent rs836322 4 173167398 [A/G] NM_001034845 GALNTL6 Silent rs10049623 4 173172113 [T/C] NM_001034845 GALNTL6 Silent rs1354356 4 173175173 [T/C] NM_001034845 GALNTL6 Silent rs12505892 4 173179915 [T/G] NM_001034845 GALNTL6 Silent rs9991827 4 173206315 [A/G] NM_001034845 GALNTL6 Silent rs1955282 4 173213263 [T/C] NM_001034845 GALNTL6 Silent rs6839113 4 173215669 [T/G] NM_001034845 GALNTL6 Silent rs9997921 4 173216873 [T/C] NM_001034845 GALNTL6 Silent rs17289279 4 173227165 [T/C] NM_001034845 GALNTL6 Silent exm2265797 4 173231379 [A/G] NM_001034845 GALNTL6 Silent rs333384 4 173245389 [A/G] NM_001034845 GALNTL6 Silent exm434205 4 173269681 [T/C] NM_001034845 GALNTL6 EXON Missense_H132Y exm434209 4 173269765 [A/G] NM_001034845 GALNTL6 EXON Missense_I160V rs4692917 4 173271397 [A/G] NM_001034845 GALNTL6 Silent rs988129 4 173285963 [T/C] NM_001034845 GALNTL6 Silent rs1508257 4 173302198 [T/C] NM_001034845 GALNTL6 Silent rs335998 4 173323928 [T/C] NM_001034845 GALNTL6 Silent rs1508260 4 173324955 [T/G] NM_001034845 GALNTL6 Silent rs6852501 4 173331787 [A/C] NM_001034845 GALNTL6 Silent rs663643 4 173340994 [T/C] NM_001034845 GALNTL6 Silent rs163185 4 173356104 [T/C] NM_001034845 GALNTL6 Silent rs10019934 4 173405278 [T/C] NM_001034845 GALNTL6 Silent rs12108601 4 173409234 [A/G] NM_001034845 GALNTL6 Silent rs2124204 4 173424803 [T/G] NM_001034845 GALNTL6 Silent rs17233636 4 173440948 [A/G] NM_001034845 GALNTL6 Silent rs13130915 4 173466872 [T/C] NM_001034845 GALNTL6 Silent rs2332519 4 173478710 [A/G] NM_001034845 GALNTL6 Silent rs13102637 4 173491064 [A/C] NM_001034845 GALNTL6 Silent rs10434280 4 173513908 [A/G] NM_001034845 GALNTL6 Silent rs1551447 4 173541374 [T/C] NM_001034845 GALNTL6 Silent rs2332544 4 173543874 [A/G] NM_001034845 GALNTL6 Silent rs4695771 4 173562564 [A/G] NM_001034845 GALNTL6 Silent rs10520242 4 173598033 [T/C] NM_001034845 GALNTL6 Silent rs17058802 4 173643640 [A/C] NM_001034845 GALNTL6 Silent rs11132959 4 173646842 [A/G] NM_001034845 GALNTL6 Silent rs1437845 4 173653680 [A/G] NM_001034845 GALNTL6 Silent rs2083136 4 173663511 [A/C] NM_001034845 GALNTL6 Silent rs12498866 4 173677193 [A/G] NM_001034845 GALNTL6 Silent rs12642442 4 173684873 [T/G] NM_001034845 GALNTL6 Silent rs9997085 4 173693980 [A/G] NM_001034845 GALNTL6 Silent rs10019400 4 173720434 [A/G] NM_001034845 GALNTL6 Silent exm434213 4 173730541 [A/G] NM_001034845 GALNTL6 EXON Missense_M195V rs750376 4 173731762 [A/C] NM_001034845 GALNTL6 Silent rs1459157 4 173739244 [T/C] NM_001034845 GALNTL6 Silent exm2261663 4 173739244 [T/C] NM_001034845 GALNTL6 Silent rs1551664 4 173742700 [T/C] NM_001034845 GALNTL6 Silent rs10001933 4 173758268 [T/C] NM_001034845 GALNTL6 Silent rs6833917 4 173777083 [A/G] NM_001034845 GALNTL6 Silent rs7660673 4 173797032 [T/C] NM_001034845 GALNTL6 Silent rs12512152 4 173797669 [T/C] NM_001034845 GALNTL6 Silent rs1903126 4 173797856 [T/C] NM_001034845 GALNTL6 Silent rs2653824 4 173822571 [T/C] NM_001034845 GALNTL6 Silent exm2269880 4 173872313 [T/C] NM_001034845 GALNTL6 Silent rs2653841 4 173872401 [A/G] NM_001034845 GALNTL6 Silent exm434240 4 173873362 [A/C] NM_001034845 GALNTL6 EXON Missense_P442T rs6811225 4 173914254 [T/C] NM_001034845 GALNTL6 Silent exm2069737 4 173930407 [G/C] NM_001034845 GALNTL6 EXON Missense_V484L rs17059082 4 173930848 [A/C] NM_001034845 GALNTL6 Silent rs6832095 4 173935056 [T/G] NM_001034845 GALNTL6 Silent exm434248 4 173942658 [A/G] NM_001034845 GALNTL6 EXON Missense_R507Q exm434258 4 173961153 [A/C] NM_001034845 GALNTL6 EXON Missense_M570L rs2019683 4 173962425 [A/G] rs7667977 4 173995332 [A/C] rs4293766 4 173995383 [A/G] rs10018524 4 174007048 [A/G] rs4048413 4 174016641 [T/C] rs6856402 4 174035061 [A/G] rs13138296 4 174048218 [T/C] rs10520253 4 174050460 [T/C] rs6553679 4 174072292 [T/C] rs7689781 4 174072755 [A/G] rs11734882 4 174075363 [A/G] rs4419455 4 174083622 [A/G] rs1054496 4 174089080 [T/C] exm434272 4 174090089 [T/C] NM_017423 GALNT7 EXON Missense_P35S rs11942280 4 174101050 [T/C] NM_017423 GALNT7 Silent rs4535319 4 174127031 [A/G] NM_017423 GALNT7 Silent rs11737748 4 174130503 [T/C] NM_017423 GALNT7 Silent var_4_174169164 4 174169164 [T/C] NM_017423 GALNT7 EXON Nonsense_R54X exm434283 4 174169359 [A/G] NM_017423 GALNT7 EXON Missense_T119A exm434285 4 174169393 [A/G] NM_017423 GALNT7 EXON Missense_G130E exm434289 4 174169569 [A/G] NM_017423 GALNT7 EXON Missense_V189I rs6816923 4 174199490 [A/G] NM_017423 GALNT7 Silent rs6553691 4 174205734 [T/C] NM_017423 GALNT7 Silent exm434296 4 174216551 [G/C] NM_017423 GALNT7 EXON Missense_H253Q exm434298 4 174216603 [A/G] NM_017423 GALNT7 EXON Missense_V271I exm434300 4 174216642 [T/C] NM_017423 GALNT7 EXON Nonsense_R284X exm434304 4 174216988 [A/T] NM_017423 GALNT7 EXON Missense_K320M exm434306 4 174219273 [A/T] NM_017423 GALNT7 EXON Missense_C325S newrs112553592 4 174223320 [T/C] NM_017423 GALNT7 Silent exm2274057 4 174235242 [A/G] NM_017423 GALNT7 EXON Missense_K508R indel.83486 4 174235299 [D/I] NM_017423 GALNT7 EXON exm434331 4 174235304 [A/C] NM_017423 GALNT7 EXON Missense_P529T rs7658148 4 174235624 [T/C] NM_017423 GALNT7 Silent rs11731262 4 174251422 [A/G] exm434365 4 174254281 [T/C] NM_002129,NM_001130688,NM_001130689 HMGB2,HMGB2,HMGB2 EXON Missense_V79I,Missense_V79I,Missense_V79I exm434372 4 174254781 [T/C] NM_002129,NM_001130688,NM_001130689 HMGB2,HMGB2,HMGB2 EXON Missense_N7S,Missense_N7S,Missense_N7S indel.83493 4 174312441 [D/I] NM_007281 SCRG1 EXON exm2240682 4 174312441 [A/G] NM_007281 SCRG1 EXON Missense_P42L exm434404 4 174312480 [T/C] NM_007281 SCRG1 EXON Missense_Y29C rs2101092 4 174315913 [A/G] NM_007281 SCRG1 Silent rs4695834 4 174325544 [A/C] rs7655786 4 174327618 [T/C] rs1481121 4 174348397 [T/C] rs1946968 4 174366240 [A/C] rs6419984 4 174392507 [T/C] rs10520259 4 174398324 [T/C] rs13141534 4 174425236 [T/C] rs7661281 4 174437070 [T/G] exm2269881 4 174447389 [T/C] rs6813810 4 174454083 [T/C] NR_003679 NBLA00301 Silent rs4695845 4 174456843 [T/C] NR_003679 NBLA00301 Silent rs13131421 4 174458901 [T/C] NR_003679 NBLA00301 Silent rs6820651 4 174461343 [A/G] NR_003679 NBLA00301 Silent rs4695849 4 174471671 [A/G] rs4695853 4 174484121 [T/C] rs4490433 4 174497836 [A/G] rs13136539 4 174513213 [A/G] rs11945239 4 174530652 [A/G] rs11731252 4 174530927 [T/C] rs4359880 4 174562083 [A/G] rs4282145 4 174565021 [T/G] rs4645197 4 174586096 [T/C] rs17263985 4 174603650 [T/C] rs7698692 4 174604104 [A/G] rs17264076 4 174605859 [T/G] rs12649191 4 174606591 [T/C] rs9312547 4 174620399 [T/C] rs11133012 4 174630567 [A/G] rs4631014 4 174632969 [A/G] rs4364235 4 174635674 [T/C] rs6816095 4 174642677 [T/G] rs6553719 4 174643499 [T/G] rs4521323 4 174655914 [A/C] rs7694565 4 174657851 [A/C] rs6830691 4 174667332 [T/C] rs6813034 4 174670065 [A/G] rs13108803 4 174679198 [A/G] rs11929802 4 174684932 [T/C] rs6553727 4 174686458 [A/G] rs12506204 4 174701186 [A/G] rs3922692 4 174713351 [A/G] rs7689307 4 174729270 [A/G] rs7683033 4 174731952 [T/G] rs6833126 4 174751009 [T/C] rs4544692 4 174760546 [A/G] rs6813541 4 174772568 [T/G] rs7700171 4 174777061 [A/G] rs6827215 4 174800374 [T/C] rs9997597 4 174803040 [A/C] rs4358372 4 174817063 [T/C] rs10033133 4 174824576 [T/C] rs3887907 4 174826157 [T/G] rs15884 4 174850559 [T/C] rs3889926 4 174859997 [T/C] rs7657182 4 174873969 [A/G] rs4547776 4 174879877 [A/G] rs6845317 4 174894345 [A/G] rs4495020 4 174920657 [A/G] rs4235203 4 174928071 [T/C] rs6823093 4 174937446 [A/G] rs6812370 4 174947684 [A/G] rs10520267 4 174956412 [T/C] rs11133026 4 174961164 [T/C] rs4695759 4 174963224 [A/G] rs17060079 4 174964203 [T/C] rs13128730 4 174965215 [A/G] rs1540448 4 174966483 [T/C] rs9996330 4 174984230 [A/G] rs7670262 4 174987671 [T/C] rs6553765 4 174991468 [T/C] rs2196368 4 174996402 [A/C] rs2332756 4 175002057 [A/G] rs877019 4 175006016 [T/G] rs4695907 4 175008790 [A/G] rs11946672 4 175025442 [T/C] rs2196387 4 175031632 [T/C] rs6841986 4 175033463 [A/G] rs1992021 4 175033659 [A/G] rs10015990 4 175035169 [T/G] rs2332758 4 175039764 [T/C] rs6838064 4 175041257 [A/C] rs6838591 4 175045002 [A/G] rs4695912 4 175059383 [A/C] exm2256490 4 175060620 [T/C] rs7662489 4 175063224 [A/G] rs4342175 4 175066056 [T/G] rs6851647 4 175067059 [T/C] rs873372 4 175069861 [A/G] rs6855522 4 175072660 [T/C] rs11733331 4 175076940 [T/C] rs7657652 4 175094250 [T/G] rs6828239 4 175103590 [T/C] rs12651020 4 175121923 [A/G] rs12651414 4 175126378 [A/C] exm434488 4 175160211 [T/A] NM_012180 FBXO8 EXON Missense_T236S rs17060428 4 175167253 [A/G] NM_012180 FBXO8 Silent rs6851312 4 175168153 [A/G] NM_012180 FBXO8 Silent exm434494 4 175180938 [T/C] NM_012180 FBXO8 EXON Missense_N123S exm434504 4 175184131 [A/C] NM_012180 FBXO8 EXON Missense_I38S exm434507 4 175184250 [A/G] NM_012180 FBXO8 EXON Silent rs13101580 4 175219813 [A/G] NM_001040157,NM_001145314 CEP44,CEP44 Silent,Silent exm2069893 4 175220223 [A/G] NM_001040157,NM_001145314 CEP44,CEP44 EXON Silent,Silent exm434513 4 175220304 [A/G] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_R11Q,Missense_R11Q exm434518 4 175223314 [T/C] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_R72C,Missense_R72C exm434519 4 175223315 [A/G] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_R72H,Missense_R72H exm434520 4 175224861 [A/G] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_R82H,Missense_R82H exm434523 4 175224966 [T/C] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_M117T,Missense_M117T exm434524 4 175224971 [A/C] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_K119Q,Missense_K119Q exm434525 4 175224972 [A/C] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_K119T,Missense_K119T exm434528 4 175225452 [A/G] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_G147S,Missense_G147S rs4695918 4 175225452 [A/G] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_G147S,Missense_G147S exm434534 4 175229856 [T/C] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_I175T,Missense_I175T exm434535 4 175229858 [T/C] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_R176C,Missense_R176C exm434536 4 175229859 [A/G] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_R176H,Missense_R176H exm434539 4 175229888 [A/G] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_I186V,Missense_I186V exm434542 4 175231002 [T/A] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_D227V,Missense_D227V exm434548 4 175231175 [G/C] NM_001040157,NM_001145314 CEP44,CEP44 EXON Missense_L285V,Missense_L285V rs1553669 4 175237408 [T/C] NM_001040157,NM_001145314 CEP44,CEP44 EXON Synonymous_T351T,Synonymous_T351T rs6553781 4 175246203 [A/G] NM_001145314 CEP44 Silent rs17060468 4 175249433 [A/G] NM_001145314 CEP44 Silent rs11934405 4 175270804 [T/C] rs4467538 4 175282806 [A/C] exm-rs6852435 4 175300779 [T/C] rs4518223 4 175340298 [T/C] rs4499680 4 175345619 [T/G] rs6833543 4 175352929 [T/C] rs12498292 4 175358647 [A/G] rs1035804 4 175372799 [T/C] rs12649767 4 175375824 [A/G] rs1426946 4 175390534 [A/G] rs8752 4 175412477 [T/C] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Silent,Silent,Silent,Silent,Silent,Silent exm434570 4 175413148 [T/G] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Missense_Q254K,Missense_Q133K,Silent,Missense_Q186K,Silent,Missense_Q133K exm2069921 4 175413228 [T/C] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Missense_N227S,Missense_N106S,Silent,Missense_N159S,Synonymous_Q172Q,Missense_N106S exm434579 4 175414330 [T/C] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Missense_D212N,Missense_D91N,Silent,Missense_D144N,Silent,Missense_D91N exm434584 4 175414444 [T/G] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Missense_S174R,Missense_S53R,Silent,Missense_S106R,Silent,Missense_S53R rs13106936 4 175415991 [A/G] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD Silent,Silent,Silent,Silent,Silent,Silent exm434586 4 175416699 [T/C] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Synonymous_A166A,Synonymous_A45A,Silent,Synonymous_A98A,Synonymous_A166A,Synonymous_A45A exm2256491 4 175416708 [A/G] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Synonymous_R163R,Synonymous_R42R,Silent,Synonymous_R95R,Synonymous_R163R,Synonymous_R42R exm434589 4 175416764 [T/C] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Missense_V145I,Missense_V24I,Silent,Missense_V77I,Missense_V145I,Missense_V24I rs3101254 4 175421255 [A/G] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD Silent,Silent,Silent,Silent,Silent,Silent rs2612656 4 175422289 [A/G] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD Silent,Silent,Silent,Silent,Silent,Silent exm2261665 4 175428308 [T/C] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD Silent,Silent,Silent,Silent,Silent,Silent variant.83503 4 175429846 [A/C] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD Silent,Silent,Silent,Silent,Silent,Silent variant.83505 4 175429927 [T/C] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Missense_G114E,Silent,Missense_G114E,Silent,Missense_G114E,Silent rs3797012 4 175434520 [A/C] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD Silent,Silent,Silent,Silent,Silent,Silent exm434601 4 175439226 [T/C] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Missense_T74A,Silent,Missense_T74A,Silent,Missense_T74A,Silent rs1050145 4 175443156 [T/C] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Synonymous_Q52Q,Silent,Synonymous_Q52Q,Synonymous_Q52Q,Synonymous_Q52Q,Silent exm434611 4 175443551 [A/C] NM_000860,NM_001256307,NM_001256305,NM_001256306,NM_001145816,NM_001256301 HPGD,HPGD,HPGD,HPGD,HPGD,HPGD EXON Missense_G18C,Silent,Missense_G18C,Missense_G18C,Missense_G18C,Silent rs1426945 4 175444382 [T/C] rs12645863 4 175457629 [A/G] rs7657391 4 175460403 [T/C] rs2256673 4 175463488 [T/C] rs2555674 4 175466101 [A/C] rs1365625 4 175470669 [T/G] rs6837393 4 175476462 [A/G] rs2555665 4 175479449 [A/G] rs7671048 4 175479552 [T/C] rs7687916 4 175485318 [T/C] rs1365621 4 175486220 [T/C] rs1820525 4 175497431 [T/C] rs2612680 4 175499645 [A/G] rs2555675 4 175523040 [A/G] rs4695935 4 175523073 [T/C] rs2332838 4 175526690 [T/C] rs6846164 4 175543263 [T/C] rs9685165 4 175543957 [A/C] rs4695937 4 175552622 [T/C] rs6849847 4 175562084 [A/C] exm434616 4 175564987 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 EXON Missense_V434I,Missense_V449I exm434618 4 175565043 [A/G] NM_001042543,NM_006529 GLRA3,GLRA3 EXON Missense_T415I,Missense_T430I exm434621 4 175565121 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 EXON Missense_N389S,Missense_N404S rs4235212 4 175565245 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent exm434625 4 175577907 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 EXON Silent,Missense_R368H rs12647358 4 175601668 [A/G] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent rs13142152 4 175602273 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent rs1352058 4 175606405 [A/G] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent rs4695784 4 175608905 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent rs6553806 4 175615500 [A/G] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent exm2269883 4 175617314 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent rs1485945 4 175632405 [A/G] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent var_4_175636651 4 175636651 [A/G] NM_001042543,NM_006529 GLRA3,GLRA3 EXON Nonsense_Q188X,Nonsense_Q188X rs10000984 4 175644564 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent rs12650824 4 175644689 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent exm434649 4 175649759 [A/G] NM_001042543,NM_006529 GLRA3,GLRA3 EXON Missense_P120S,Missense_P120S exm434651 4 175649798 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 EXON Missense_A107T,Missense_A107T rs10000456 4 175649941 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent rs9312559 4 175650116 [A/G] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent rs4695959 4 175658175 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent rs6827308 4 175662891 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent rs2029570 4 175675480 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent rs2029569 4 175686589 [A/G] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent rs12651268 4 175688141 [A/G] NM_001042543,NM_006529 GLRA3,GLRA3 EXON Synonymous_S80S,Synonymous_S80S rs6858127 4 175690792 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent rs2200457 4 175699276 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent rs10049967 4 175709806 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent indel.83510 4 175709961 [D/I] NM_001042543,NM_006529 GLRA3,GLRA3 exm434664 4 175709975 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 EXON Missense_N64S,Missense_N64S exm434668 4 175710093 [T/A] NM_001042543,NM_006529 GLRA3,GLRA3 EXON Missense_L25M,Missense_L25M rs10021711 4 175711800 [T/C] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent rs11934209 4 175716041 [A/G] NM_001042543,NM_006529 GLRA3,GLRA3 Silent,Silent exm434670 4 175749904 [A/G] NM_001042543,NM_006529 GLRA3,GLRA3 EXON Missense_A20V,Missense_A20V rs13116721 4 175753571 [A/G] rs1491411 4 175777871 [T/C] rs992363 4 175792412 [A/G] rs1121336 4 175796630 [T/C] rs7667865 4 175798347 [A/G] rs6858430 4 175816129 [T/C] rs11933901 4 175816341 [A/G] rs7697216 4 175828036 [T/C] rs6553847 4 175836048 [A/G] rs12512467 4 175842230 [A/G] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 Silent,Silent,Silent,Silent rs4695984 4 175858796 [T/C] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 Silent,Silent,Silent,Silent rs11934547 4 175860563 [A/C] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 Silent,Silent,Silent,Silent rs13136874 4 175862049 [T/C] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 Silent,Silent,Silent,Silent rs6841547 4 175870922 [T/C] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 Silent,Silent,Silent,Silent exm2265798 4 175871449 [A/G] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 Silent,Silent,Silent,Silent rs13130150 4 175876473 [T/C] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 Silent,Silent,Silent,Silent rs4128922 4 175890127 [A/G] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 Silent,Silent,Silent,Silent rs6845431 4 175894380 [A/C] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 Silent,Silent,Silent,Silent 1KG_4_175896870 4 175896870 [D/I] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON indel.83513 4 175896890 [D/I] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON exm434694 4 175897104 [T/C] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_T143I,Missense_T143I,Missense_T143I,Missense_T143I variant.83515 4 175897126 [A/C] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON Nonsense_Y150X,Nonsense_Y150X,Nonsense_Y150X,Nonsense_Y150X exm434695 4 175897139 [A/G] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_E155K,Missense_E155K,Missense_E155K,Missense_E155K exm2069984 4 175897196 [G/C] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_R174G,Missense_R174G,Missense_R174G,Missense_R174G exm434700 4 175897314 [A/G] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_R213H,Missense_R213H,Missense_R213H,Missense_R213H indel.83517 4 175897664 [D/I] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON exm434716 4 175897719 [A/G] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_R348H,Missense_R348H,Missense_R348H,Missense_R348H exm2256494 4 175898410 [T/C] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON Synonymous_D578D,Synonymous_D578D,Synonymous_D578D,Synonymous_D578D exm434731 4 175898410 [T/C] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON Synonymous_D578D,Synonymous_D578D,Synonymous_D578D,Synonymous_D578D exm434734 4 175898555 [T/C] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_P627S,Missense_P627S,Missense_P627S,Missense_P627S exm434744 4 175898811 [T/C] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_T712I,Missense_T712I,Missense_T712I,Missense_T712I exm434745 4 175898844 [A/G] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_R723H,Missense_R723H,Missense_R723H,Missense_R723H exm434749 4 175898879 [T/C] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_W735R,Missense_W735R,Missense_W735R,Missense_W735R exm434751 4 175898894 [T/C] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON Nonsense_Q740X,Nonsense_Q740X,Nonsense_Q740X,Nonsense_Q740X exm2069995 4 175898900 [T/C] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON Nonsense_Q742X,Nonsense_Q742X,Nonsense_Q742X,Nonsense_Q742X exm434758 4 175898940 [T/C] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_M755T,Missense_M755T,Missense_M755T,Missense_M755T exm434763 4 175898983 [A/T] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_Q769H,Missense_Q769H,Missense_Q769H,Missense_Q769H exm2240695 4 175899103 [T/G] NM_001130704,NM_014269,NM_001130705,NM_001130703 ADAM29,ADAM29,ADAM29,ADAM29 EXON Missense_M809I,Missense_M809I,Missense_M809I,Missense_M809I rs28833210 4 175908720 [T/C] rs10026079 4 175913798 [T/C] rs12502984 4 175923101 [A/C] rs6553853 4 175936490 [A/C] rs4382019 4 175947638 [T/C] rs11941955 4 175954666 [T/G] rs1842178 4 175964181 [A/G] rs1471480 4 175967160 [T/C] rs7356528 4 175970464 [A/G] rs11733561 4 176009525 [A/G] rs330502 4 176023652 [T/C] rs1602491 4 176031901 [A/G] rs2219824 4 176036504 [A/G] rs330493 4 176042191 [A/G] rs6811622 4 176056502 [T/G] rs4695809 4 176066263 [A/C] rs1479377 4 176073580 [T/C] rs162449 4 176090779 [A/G] rs331488 4 176095286 [A/G] rs1491416 4 176109168 [T/C] rs654089 4 176110924 [T/G] rs4286499 4 176136330 [T/G] rs7673876 4 176152373 [T/G] rs4146 4 176164722 [T/C] rs13132343 4 176170783 [A/G] rs493293 4 176176194 [T/C] rs7673394 4 176200230 [T/C] rs1711988 4 176226337 [T/C] rs2333163 4 176270885 [T/C] rs1879629 4 176289800 [A/G] kgp11421042 4 176291220 [T/C] rs13103867 4 176298798 [T/C] rs9994051 4 176344294 [T/C] rs9684098 4 176349829 [A/G] rs10021387 4 176378939 [T/C] exm2269991 4 176391372 [T/C] rs7699269 4 176393194 [A/G] kgp7386885 4 176393884 [A/G] kgp20935848 4 176394165 [A/G] rs4622948 4 176451803 [A/G] rs4311268 4 176487623 [T/G] rs11735559 4 176491850 [A/C] rs12502137 4 176502740 [A/C] rs4690379 4 176514624 [A/G] rs2333233 4 176538654 [T/C] exm2269884 4 176538654 [T/C] rs10027928 4 176541897 [T/G] rs4690535 4 176545324 [A/G] rs3733398 4 176555585 [A/C] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A EXON Silent,Silent,Silent,Silent,Silent,Silent rs10520301 4 176560091 [T/G] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent rs2333251 4 176566551 [T/C] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent rs7678146 4 176566962 [T/C] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent rs35424424 4 176591669 [T/C] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent rs10213204 4 176601113 [T/C] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent rs10520302 4 176608039 [T/C] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent rs2333257 4 176609256 [T/C] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent variant.83522 4 176622726 [A/G] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A EXON Missense_M70T,Missense_M77T,Silent,Missense_M66T,Silent,Missense_M77T rs12512924 4 176626693 [T/C] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent rs2581761 4 176641467 [A/G] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent rs1472328 4 176644821 [T/C] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent rs9312583 4 176648393 [A/G] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent rs2644002 4 176652429 [T/C] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent rs17061928 4 176655160 [T/C] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent rs13152426 4 176660420 [A/G] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent rs17599018 4 176662087 [T/C] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent rs1845732 4 176662797 [T/C] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent rs722825 4 176677770 [T/C] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent rs1390343 4 176706135 [T/C] NM_001261448,NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent,Silent exm2269885 4 176721793 [T/C] NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent rs1495716 4 176728576 [T/C] NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent rs2291761 4 176730094 [A/C] NM_201591,NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent,Silent rs6838421 4 176747173 [A/G] NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent rs10033784 4 176766796 [T/C] NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent rs11940577 4 176782054 [T/C] NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent rs1826763 4 176804052 [T/C] NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent rs7436322 4 176823651 [T/C] NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent rs10033742 4 176825221 [A/G] NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent rs17062227 4 176828539 [A/G] NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent rs17062252 4 176832899 [T/C] NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent rs17062274 4 176850196 [T/C] NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent exm-rs7687921 4 176859026 [A/T] NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent rs1106568 4 176861301 [A/G] NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent rs4690647 4 176872920 [A/G] NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent rs17062345 4 176902231 [A/G] NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent rs7675676 4 176918741 [A/G] NR_048571,NM_201592,NM_001261447,NM_005277 GPM6A,GPM6A,GPM6A,GPM6A Silent,Silent,Silent,Silent rs1471797 4 176924716 [T/C] rs1471798 4 176926946 [A/G] rs997779 4 176936038 [A/C] rs11936134 4 176949352 [T/C] rs12499459 4 176957224 [A/G] rs11721843 4 176963980 [T/C] rs973732 4 176971792 [T/G] rs13146736 4 176975408 [T/C] rs7657735 4 176978086 [A/G] rs2333391 4 176980809 [A/G] rs1385614 4 176993039 [T/C] NM_170710,NM_181265 WDR17,WDR17 Silent,Silent rs12641442 4 177006043 [T/C] NM_170710,NM_181265 WDR17,WDR17 Silent,Silent rs17062501 4 177014804 [A/G] NM_170710,NM_181265 WDR17,WDR17 Silent,Silent exm434831 4 177017678 [T/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_W3L,Silent variant.83526 4 177037124 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_T125A,Missense_T101A exm434856 4 177041206 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_V190M,Missense_V166M rs10009701 4 177045953 [A/G] NM_170710,NM_181265 WDR17,WDR17 Silent,Silent variant.83527 4 177046304 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Synonymous_T220T,Synonymous_T196T exm434859 4 177046444 [T/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_A267V,Missense_A243V exm434860 4 177046446 [T/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_A268S,Missense_A244S exm2275780 4 177046455 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_V271I,Missense_V247I indel.83529 4 177049889 [I/D] NM_170710,NM_181265 WDR17,WDR17 EXON exm434868 4 177049919 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_N298S,Missense_N274S exm434872 4 177049982 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_H319R,Missense_H295R indel.83530 4 177052764 [D/I] NM_170710,NM_181265 WDR17,WDR17 EXON exm434883 4 177052871 [T/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_W384C,Missense_W360C exm434892 4 177056338 [G/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_T417S,Missense_T393S exm434893 4 177056340 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_I418V,Missense_I394V exm434895 4 177056356 [T/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_I423T,Missense_I399T exm434896 4 177056360 [A/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_N424K,Missense_N400K rs7687047 4 177057545 [T/C] NM_170710,NM_181265 WDR17,WDR17 Silent,Silent variant.83531 4 177058703 [T/C] NM_170710,NM_181265 WDR17,WDR17 EXON Nonsense_R458X,Nonsense_R434X exm434898 4 177058704 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_R458Q,Missense_R434Q exm434903 4 177061070 [C/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_A487P,Missense_A463P rs7678897 4 177061748 [T/C] NM_170710,NM_181265 WDR17,WDR17 Silent,Silent newrs142589281 4 177063141 [T/C] NM_170710,NM_181265 WDR17,WDR17 EXON Nonsense_R508X,Nonsense_R484X exm434907 4 177063174 [A/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_K519Q,Missense_K495Q exm434908 4 177063186 [T/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_A523S,Missense_A499S exm434911 4 177067151 [A/T] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_M536K,Missense_M512K exm434917 4 177069285 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_T590A,Missense_T566A 1KG_4_177069408 4 177069408 [I/D] NM_170710,NM_181265 WDR17,WDR17 EXON exm434926 4 177069472 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_G652D,Missense_G628D exm434931 4 177071231 [A/T] NM_170710,NM_181265 WDR17,WDR17 EXON Nonsense_C719X,Nonsense_C695X exm2240698 4 177071245 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_R724K,Missense_R700K exm434941 4 177073026 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_A814T,Missense_A790T exm434946 4 177077248 [T/A] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_I851F,Missense_I827F exm434947 4 177077250 [T/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_I851M,Missense_I827M rs2128422 4 177079374 [T/C] NM_170710,NM_181265 WDR17,WDR17 Silent,Silent exm434954 4 177082069 [C/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_C913S,Missense_C889S exm434955 4 177082099 [T/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_S923F,Missense_S899F indel.83538 4 177082139 [D/I] NM_170710,NM_181265 WDR17,WDR17 EXON exm434960 4 177083272 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_D957N,Missense_D933N exm434963 4 177083302 [T/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_H967Y,Missense_H943Y variant.83539 4 177083330 [A/G] NM_170710,NM_181265 WDR17,WDR17 Silent,Silent exm434968 4 177084327 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_R982H,Missense_R958H exm434970 4 177084329 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_G983R,Missense_G959R exm434976 4 177087291 [T/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_Y1027H,Silent exm434982 4 177089845 [A/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_L1044M,Missense_L1005M exm434984 4 177089929 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_D1072N,Missense_D1033N rs4475089 4 177091829 [A/G] NM_170710,NM_181265 WDR17,WDR17 Silent,Silent var_4_177094517 4 177094518 [D/I] NM_170710,NM_181265 WDR17,WDR17 EXON exm435004 4 177098223 [T/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_R1194L,Missense_R1155L exm435006 4 177098285 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_A1215T,Missense_A1176T exm435012 4 177100617 [G/C] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_V1286L,Missense_V1247L exm435015 4 177100644 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_A1295T,Missense_A1256T exm435018 4 177100714 [A/G] NM_170710,NM_181265 WDR17,WDR17 EXON Missense_R1318Q,Missense_R1279Q rs7699964 4 177101060 [T/G] NM_170710,NM_181265 WDR17,WDR17 EXON Silent,Silent indel.83543 4 177105944 [D/I] NM_144644 SPATA4 EXON exm-IND4-177343003 4 177106010 [D/I] NM_144644 SPATA4 EXON exm435027 4 177106011 [A/C] NM_144644 SPATA4 EXON Nonsense_E280X rs2333402 4 177107335 [T/G] NM_144644 SPATA4 Silent exm435031 4 177109269 [T/C] NM_144644 SPATA4 Silent exm435032 4 177109270 [A/G] NM_144644 SPATA4 EXON Missense_P269S exm435036 4 177109326 [A/G] NM_144644 SPATA4 EXON Missense_A250V exm435039 4 177113779 [T/C] NM_144644 SPATA4 EXON Synonymous_P229P indel.83547 4 177113870 [D/I] NM_144644 SPATA4 EXON exm435048 4 177113963 [A/G] NM_144644 SPATA4 EXON Missense_T168M exm435052 4 177114130 [T/C] NM_144644 SPATA4 EXON Missense_Y149C exm435063 4 177114699 [A/C] NM_144644 SPATA4 EXON Missense_F85V rs6820936 4 177114889 [T/C] NM_144644 SPATA4 Silent exm435066 4 177116535 [T/A] NM_144644 SPATA4 EXON Missense_Q60L rs10004500 4 177119860 [A/C] rs728846 4 177121983 [T/C] rs11731185 4 177123850 [A/C] rs4626145 4 177124254 [A/G] rs13120122 4 177134283 [T/C] exm435077 4 177136755 [T/C] NM_080874 ASB5 EXON Missense_R329Q exm435081 4 177136830 [T/G] NM_080874 ASB5 EXON Missense_Y304S variant.83553 4 177136849 [A/G] NM_080874 ASB5 EXON Nonsense_R298X rs6827525 4 177137988 [T/C] NM_080874 ASB5 EXON Synonymous_R281R variant.83555 4 177138079 [A/C] NM_080874 ASB5 EXON Nonsense_L251X exm435100 4 177142363 [C/G] NM_080874 ASB5 EXON Missense_L205V exm435101 4 177142377 [T/C] NM_080874 ASB5 EXON Missense_H200R variant.83556 4 177142407 [T/C] NM_080874 ASB5 EXON Nonsense_W190X exm435112 4 177142646 [T/G] NM_080874 ASB5 EXON Missense_L164M exm435114 4 177142678 [T/C] NM_080874 ASB5 EXON Missense_E153G exm435115 4 177142702 [A/G] NM_080874 ASB5 EXON Missense_S145F exm435117 4 177142710 [G/C] NM_080874 ASB5 EXON Missense_N142K rs6830358 4 177143727 [T/G] NM_080874 ASB5 Silent rs6814870 4 177144364 [T/C] NM_080874 ASB5 Silent exm435130 4 177146444 [T/C] NM_080874 ASB5 EXON Missense_R82H variant.83557 4 177146478 [A/G] NM_080874 ASB5 EXON Nonsense_R71X exm435133 4 177146483 [A/G] NM_080874 ASB5 EXON Missense_A69V rs10013975 4 177146627 [T/C] NM_080874 ASB5 Silent rs2046262 4 177150925 [A/G] NM_080874 ASB5 Silent rs7684092 4 177157830 [A/G] NM_080874 ASB5 Silent rs7688636 4 177160262 [A/G] NM_080874 ASB5 Silent rs9312595 4 177163414 [A/G] NM_080874 ASB5 Silent rs9790840 4 177164064 [T/C] NM_080874 ASB5 Silent exm435141 4 177190115 [T/G] NM_080874 ASB5 EXON Missense_K49Q exm435142 4 177190117 [T/C] NM_080874 ASB5 EXON Missense_R48H var_4_177190247 4 177190247 [A/C] NM_080874 ASB5 EXON Nonsense_E5X rs12649379 4 177194007 [A/G] rs6820078 4 177195145 [A/G] rs13129947 4 177202275 [A/G] rs11133142 4 177212135 [A/G] rs13115859 4 177224449 [T/C] rs7670905 4 177233904 [T/C] rs13115857 4 177234129 [T/G] rs723820 4 177234906 [A/G] rs9992247 4 177235286 [T/C] rs17062749 4 177237631 [A/G] rs4690686 4 177242959 [T/C] NM_021928 SPCS3 Silent exm435162 4 177249434 [A/G] NM_021928 SPCS3 EXON Missense_V166I rs4690687 4 177259635 [A/G] rs4690429 4 177263983 [A/G] rs6553951 4 177308667 [A/G] exm2265895 4 177322096 [A/G] rs12647397 4 177322096 [A/G] rs2123861 4 177328296 [T/C] rs6553957 4 177336067 [A/G] rs12331128 4 177337800 [A/C] rs4146092 4 177340623 [A/C] rs2167094 4 177350693 [T/C] rs10009750 4 177355622 [T/C] rs28562735 4 177359397 [T/C] rs921691 4 177360669 [A/G] rs1377841 4 177366729 [T/C] rs17062990 4 177371366 [A/G] rs309753 4 177374643 [A/C] rs6837598 4 177378346 [T/C] rs365051 4 177391167 [T/C] rs309732 4 177394679 [A/G] exm2269886 4 177400028 [T/G] rs4146433 4 177400257 [T/C] rs4690445 4 177406393 [T/G] rs1449727 4 177407175 [T/C] rs4690351 4 177419908 [A/G] rs403742 4 177422510 [A/G] rs309703 4 177429154 [A/G] rs17063208 4 177430980 [A/G] rs377413 4 177436430 [T/C] rs425571 4 177444335 [A/G] rs309780 4 177462810 [A/G] rs309789 4 177464940 [A/G] rs309794 4 177466128 [T/C] rs309798 4 177466797 [T/C] rs11133161 4 177466989 [A/G] rs13133225 4 177467220 [A/G] rs6819712 4 177481511 [A/G] rs17688977 4 177490659 [A/G] exm-rs12715977 4 177495414 [A/C] rs13117732 4 177496193 [A/G] rs10023049 4 177497169 [A/G] rs13119438 4 177507768 [T/G] rs12644889 4 177522973 [A/G] rs1017912 4 177529489 [T/G] rs13131892 4 177529663 [T/C] rs6553973 4 177531472 [T/C] rs13111989 4 177542973 [A/G] rs2062416 4 177544609 [T/C] rs871927 4 177548580 [T/C] rs10029554 4 177568466 [A/C] rs6842237 4 177573314 [A/G] rs1471810 4 177575052 [A/G] rs4690358 4 177583933 [A/G] exm435173 4 177605168 [T/C] NM_005429 VEGFC EXON Missense_R391H rs1485762 4 177607731 [T/C] NM_005429 VEGFC Silent variant.83560 4 177608369 [A/C] NM_005429 VEGFC EXON Nonsense_G373X 1KG_4_177608420 4 177608420 [I/D] NM_005429 VEGFC EXON exm435184 4 177608534 [A/C] NM_005429 VEGFC EXON Missense_V318F exm435187 4 177608981 [T/C] NM_005429 VEGFC EXON Missense_G269R rs3775198 4 177612566 [A/G] NM_005429 VEGFC Silent rs1531956 4 177632236 [T/C] NM_005429 VEGFC Silent exm435190 4 177632698 [T/C] NM_005429 VEGFC EXON Missense_Q220R exm435194 4 177632758 [C/G] NM_005429 VEGFC EXON Missense_T200R rs1564922 4 177634522 [A/G] NM_005429 VEGFC Silent rs6820170 4 177645549 [T/C] NM_005429 VEGFC Silent exm435203 4 177649090 [T/C] NM_005429 VEGFC EXON Missense_M132V exm435208 4 177650736 [T/A] NM_005429 VEGFC EXON Missense_E104D exm435211 4 177650824 [C/G] NM_005429 VEGFC EXON Missense_P75R exm435212 4 177650866 [T/C] NM_005429 VEGFC EXON Missense_R61Q exm435213 4 177650876 [T/C] NM_005429 VEGFC EXON Missense_E58K rs475106 4 177656790 [A/G] NM_005429 VEGFC Silent rs964812 4 177667073 [T/G] NM_005429 VEGFC Silent rs4557213 4 177689133 [A/G] NM_005429 VEGFC Silent exm435215 4 177713326 [A/T] NM_005429 VEGFC EXON Missense_E47V rs11131764 4 177720359 [T/C] rs9992272 4 177737136 [A/G] rs17063777 4 177739471 [A/G] rs2333571 4 177761552 [A/G] rs9994879 4 177767619 [T/G] rs10006747 4 177776703 [A/G] rs6552198 4 177785568 [A/G] rs6850178 4 177789086 [T/C] rs7668750 4 177804746 [T/C] rs7700025 4 177814863 [A/G] rs13105194 4 177815859 [T/G] rs1545089 4 177854130 [T/C] rs1436197 4 177862546 [T/G] rs873632 4 177870554 [T/G] rs873350 4 177871569 [A/G] rs7662445 4 177891850 [A/G] rs13104005 4 177895429 [T/C] rs12648879 4 177900078 [T/C] rs13434489 4 177907949 [A/C] rs7663143 4 177952118 [A/G] rs10025425 4 177964148 [T/C] rs4282116 4 177968578 [A/C] rs10780058 4 177982668 [T/C] rs2583194 4 177993233 [T/C] rs3114031 4 178001276 [A/C] exm2256500 4 178028186 [A/G] rs1898854 4 178028186 [A/G] rs2580062 4 178029963 [T/C] rs17064315 4 178041034 [A/G] rs2635835 4 178052785 [A/G] rs9996167 4 178056849 [A/C] rs13125748 4 178069165 [A/C] rs4299533 4 178084093 [T/C] rs2246360 4 178100729 [T/G] exm-rs6552216 4 178112004 [T/C] rs13105496 4 178116819 [T/C] rs4690374 4 178123945 [A/G] exm2261669 4 178128842 [T/C] rs4690502 4 178141976 [A/G] rs1992264 4 178145355 [T/C] exm2265800 4 178167074 [A/G] rs2118922 4 178167074 [A/G] rs17064500 4 178168551 [T/C] rs3828517 4 178169500 [A/G] rs17725302 4 178186997 [A/G] rs9684452 4 178194441 [T/C] rs17064538 4 178199981 [T/C] rs4690504 4 178201257 [T/C] rs1844483 4 178209089 [T/C] rs17064564 4 178214726 [A/C] exm435230 4 178231223 [T/C] NM_018248 NEIL3 EXON Missense_A39V rs6817959 4 178235334 [A/C] NM_018248 NEIL3 Silent rs6850861 4 178236402 [T/C] NM_018248 NEIL3 Silent var_4_178243734 4 178243734 [A/G] NM_018248 NEIL3 EXON Missense_R93Q rs12642885 4 178247400 [A/G] NM_018248 NEIL3 Silent exm435243 4 178256906 [A/G] NM_018248 NEIL3 EXON Missense_A115T exm435244 4 178256913 [G/C] NM_018248 NEIL3 EXON Missense_P117R exm2274058 4 178256920 [C/G] NM_018248 NEIL3 EXON Missense_L119F exm435246 4 178256958 [A/T] NM_018248 NEIL3 EXON Missense_D132V exm435247 4 178256959 [C/G] NM_018248 NEIL3 EXON Missense_D132E exm2070211 4 178257443 [G/C] NM_018248 NEIL3 EXON Missense_L199V exm2240707 4 178257452 [A/G] NM_018248 NEIL3 EXON Missense_S202G variant.83564 4 178261016 [A/G] NM_018248 NEIL3 Silent exm435271 4 178262784 [A/G] NM_018248 NEIL3 EXON Missense_H286R exm435272 4 178262796 [A/G] NM_018248 NEIL3 EXON Missense_C290Y rs9637678 4 178269670 [A/G] NM_018248 NEIL3 Silent rs2048073 4 178270916 [A/G] NM_018248 NEIL3 Silent exm435278 4 178272607 [T/C] NM_018248 NEIL3 EXON Missense_R315W exm435279 4 178272608 [A/G] NM_018248 NEIL3 EXON Missense_R315Q exm435282 4 178272700 [A/G] NM_018248 NEIL3 EXON Missense_I346V exm435289 4 178274639 [T/C] NM_018248 NEIL3 EXON Missense_T406I rs13112358 4 178274750 [T/C] NM_018248 NEIL3 EXON Missense_P443L exm435292 4 178274750 [T/C] NM_018248 NEIL3 EXON Missense_P443L exm435295 4 178274819 [A/C] NM_018248 NEIL3 EXON Missense_K466T exm2070231 4 178274840 [T/C] NM_018248 NEIL3 EXON Missense_S473L exm435303 4 178281712 [T/C] NM_018248 NEIL3 EXON Missense_R506C exm435306 4 178281754 [A/G] NM_018248 NEIL3 EXON Missense_G520R indel.83568 4 178281822 [I/D] NM_018248 NEIL3 EXON exm435309 4 178283446 [T/G] NM_018248 NEIL3 EXON Missense_A547S exm435310 4 178283474 [A/G] NM_018248 NEIL3 EXON Missense_H556R exm435311 4 178283483 [A/G] NM_018248 NEIL3 EXON Missense_R559H exm435317 4 178283570 [A/G] NM_018248 NEIL3 EXON Missense_N588S var_4_178283622 4 178283622 [A/C] NM_018248 NEIL3 EXON Nonsense_C605X rs6846587 4 178290368 [T/C] rs1506807 4 178317692 [A/G] exm-rs1395479 4 178318191 [A/C] rs1395483 4 178321418 [T/C] rs1588051 4 178337145 [A/G] rs4690516 4 178340126 [T/C] rs4690517 4 178346941 [A/G] rs3749480 4 178351803 [A/G] exm435332 4 178352938 [A/G] NM_000027,NR_033655,NM_001171988 AGA,AGA,AGA EXON Missense_T322I,Silent,Missense_T312I variant.83570 4 178354367 [A/C] NM_000027,NR_033655,NM_001171988 AGA,AGA,AGA Silent,Silent,Silent newrs149870867 4 178354368 [T/C] NM_000027,NR_033655,NM_001171988 AGA,AGA,AGA EXON Missense_G314S,Silent,Missense_G304S indel.83572 4 178354369 [I/D] NM_000027,NR_033655,NM_001171988 AGA,AGA,AGA EXON exm435338 4 178355549 [A/G] NM_000027,NR_033655,NM_001171988 AGA,AGA,AGA EXON Missense_R265C,Silent,Missense_R255C newrs150175428 4 178355637 [T/C] NM_000027,NR_033655,NM_001171988 AGA,AGA,AGA EXON Synonymous_V235V,Silent,Silent exm435350 4 178357453 [A/G] NM_000027,NR_033655,NM_001171988 AGA,AGA,AGA EXON Synonymous_N225N,Silent,Synonymous_N225N exm2070249 4 178359918 [G/C] NM_000027,NR_033655,NM_001171988 AGA,AGA,AGA EXON Missense_C163S,Silent,Missense_C163S exm435360 4 178359924 [T/C] NM_000027,NR_033655,NM_001171988 AGA,AGA,AGA EXON Missense_R161Q,Silent,Missense_R161Q exm435362 4 178359960 [G/C] NM_000027,NR_033655,NM_001171988 AGA,AGA,AGA EXON Missense_T149S,Silent,Missense_T149S exm435363 4 178359970 [A/C] NM_000027,NR_033655,NM_001171988 AGA,AGA,AGA EXON Missense_L146V,Silent,Missense_L146V exm435366 4 178360748 [C/G] NM_000027,NR_033655,NM_001171988 AGA,AGA,AGA EXON Missense_L126V,Silent,Missense_L126V exm435369 4 178360811 [T/G] NM_000027,NR_033655,NM_001171988 AGA,AGA,AGA EXON Missense_L105I,Silent,Missense_L105I rs4690522 4 178361051 [A/C] NM_000027,NR_033655,NM_001171988 AGA,AGA,AGA Silent,Silent,Silent exm435374 4 178361432 [T/C] NM_000027,NR_033655,NM_001171988 AGA,AGA,AGA EXON Missense_M92I,Silent,Missense_M92I exm435388 4 178363496 [A/C] NM_000027,NR_033655,NM_001171988 AGA,AGA,AGA EXON Missense_V12L,Silent,Missense_V12L exm435390 4 178363520 [T/G] NM_000027,NR_033655,NM_001171988 AGA,AGA,AGA EXON Missense_K4Q,Silent,Missense_K4Q rs7680586 4 178369766 [T/C] rs17064860 4 178381669 [A/C] rs4690525 4 178392708 [T/C] rs35955682 4 178393335 [A/G] rs6823035 4 178394279 [A/G] rs6814553 4 178405429 [A/G] rs17742420 4 178438637 [A/G] rs1882160 4 178449352 [A/G] rs12510932 4 178454290 [A/C] rs6812233 4 178455524 [T/C] rs1920975 4 178477452 [A/G] rs4690536 4 178491443 [A/G] rs10015045 4 178498527 [T/C] rs13116233 4 178503993 [A/C] rs17065006 4 178506363 [T/G] rs13114753 4 178516328 [A/G] rs17749802 4 178520166 [A/G] rs10866216 4 178524155 [T/C] rs7661921 4 178536315 [A/G] rs10520382 4 178538777 [A/G] rs13102468 4 178556723 [A/C] rs13149928 4 178593268 [T/C] rs10005304 4 178594516 [A/G] rs4690549 4 178596794 [A/C] rs6845027 4 178598308 [A/G] rs1993279 4 178620683 [A/G] rs1993280 4 178621004 [T/C] rs1454213 4 178646542 [T/C] rs3943470 4 178649091 [T/C] rs4690560 4 178662910 [A/G] NR_028342 LOC285501 Silent rs9312212 4 178669888 [A/G] NR_028342 LOC285501 Silent rs6851156 4 178682034 [T/G] NR_028342 LOC285501 Silent rs7698744 4 178682882 [A/G] NR_028342 LOC285501 Silent rs7677777 4 178683194 [T/C] NR_028342 LOC285501 Silent rs11131820 4 178683325 [T/C] NR_028342 LOC285501 Silent rs17700785 4 178686626 [T/C] NR_028342 LOC285501 Silent rs2085067 4 178689242 [T/C] NR_028342 LOC285501 Silent rs7691749 4 178692400 [A/G] NR_028342 LOC285501 Silent rs13140117 4 178701283 [A/G] NR_028342 LOC285501 Silent rs12506671 4 178709040 [A/G] NR_028342 LOC285501 Silent rs10011916 4 178711450 [T/C] NR_028342 LOC285501 Silent rs17751904 4 178715833 [A/G] NR_028342 LOC285501 Silent rs17752004 4 178718914 [T/C] NR_028342 LOC285501 Silent rs10017412 4 178721539 [A/G] NR_028342 LOC285501 Silent rs11723791 4 178734746 [A/G] NR_028342 LOC285501 Silent rs4997950 4 178740648 [T/G] NR_028342 LOC285501 Silent rs17090615 4 178745616 [T/C] NR_028342 LOC285501 Silent rs1377859 4 178749087 [A/G] NR_028342 LOC285501 Silent rs4574348 4 178752567 [T/C] NR_028342 LOC285501 Silent rs10049757 4 178754587 [A/G] NR_028342 LOC285501 Silent rs6827227 4 178755843 [T/C] NR_028342 LOC285501 Silent rs11131829 4 178760909 [T/G] NR_028342 LOC285501 Silent rs2378775 4 178762043 [A/G] NR_028342 LOC285501 Silent rs2168041 4 178770448 [T/C] NR_028342 LOC285501 Silent rs12643723 4 178772728 [A/G] NR_028342 LOC285501 Silent rs10015482 4 178776011 [A/G] NR_028342 LOC285501 Silent rs6849372 4 178776502 [A/G] NR_028342 LOC285501 Silent rs9684037 4 178793878 [A/G] NR_028342 LOC285501 Silent rs2168040 4 178794478 [T/C] NR_028342 LOC285501 Silent rs11722051 4 178799980 [T/C] NR_028342 LOC285501 Silent rs6824106 4 178801018 [A/G] NR_028342 LOC285501 Silent exm2265801 4 178801018 [A/G] NR_028342 LOC285501 Silent rs11725712 4 178803423 [T/G] NR_028342 LOC285501 Silent rs4277728 4 178806432 [T/C] NR_028342 LOC285501 Silent rs4306905 4 178806449 [A/G] NR_028342 LOC285501 Silent rs2219692 4 178812009 [T/C] NR_028342 LOC285501 Silent rs17703021 4 178836429 [T/C] NR_028342 LOC285501 Silent rs7673686 4 178883188 [T/C] NR_028342 LOC285501 Silent rs10049915 4 178891411 [T/C] NR_028342 LOC285501 Silent rs10006596 4 178910307 [T/C] NR_028342 LOC285501 Silent rs17065494 4 178911822 [T/C] NR_028342 LOC285501 EXON Silent rs17065497 4 178911873 [A/G] NR_028342 LOC285501 EXON Silent rs10010019 4 178914733 [T/C] rs1462513 4 178915050 [T/G] rs1462514 4 178922921 [A/G] rs1711390 4 178933641 [A/G] rs1676169 4 178951714 [A/G] rs1711376 4 178955488 [A/G] rs2045757 4 178962336 [A/G] rs1676177 4 178967175 [A/G] rs1676187 4 178978140 [T/C] rs1381698 4 178979494 [T/C] rs1711386 4 178988148 [T/C] exm2269993 4 178995242 [T/C] rs6552275 4 179009622 [A/G] rs1676157 4 179011288 [A/C] rs533025 4 179023206 [A/G] rs672041 4 179032994 [A/G] rs553372 4 179046619 [A/G] rs11131851 4 179046640 [T/C] rs9993819 4 179055616 [T/C] rs604363 4 179067086 [A/G] rs493668 4 179069109 [A/G] rs10017808 4 179110916 [A/C] rs1458717 4 179114110 [A/G] rs13132202 4 179125887 [T/C] rs11131862 4 179172237 [T/C] rs6818908 4 179185906 [A/G] rs6552287 4 179194375 [T/C] rs12648022 4 179200338 [T/C] rs6552290 4 179208760 [A/G] rs1567474 4 179227880 [A/G] rs6837438 4 179251931 [A/C] rs2666044 4 179266260 [T/C] rs1473016 4 179275567 [A/C] rs3109075 4 179283569 [A/G] rs1510631 4 179311419 [A/G] rs1473017 4 179323762 [A/C] rs17065950 4 179326362 [T/G] rs9991342 4 179335261 [A/C] rs2715399 4 179337999 [T/G] rs2666052 4 179340650 [T/G] rs2715402 4 179341460 [A/G] rs1606021 4 179346683 [T/C] rs2666062 4 179350247 [A/G] rs6819722 4 179362277 [A/G] rs2702386 4 179365152 [A/G] rs2702383 4 179378497 [A/G] rs11940603 4 179380432 [T/C] rs1903524 4 179380467 [A/G] rs10471173 4 179385635 [T/C] exm-rs2702414 4 179399523 [A/G] rs2702450 4 179401563 [T/C] rs7435595 4 179402198 [A/G] rs2614589 4 179402364 [T/C] rs1903536 4 179410273 [T/C] rs7669485 4 179420957 [A/G] rs2702432 4 179423869 [T/G] rs2702431 4 179424481 [T/C] rs998257 4 179447164 [T/C] rs2715500 4 179448086 [T/C] rs13146234 4 179451516 [T/C] rs2169394 4 179458843 [T/C] rs2246528 4 179466683 [T/G] rs1903557 4 179477407 [A/G] rs13108016 4 179479829 [T/C] exm2256505 4 179482360 [A/G] rs4861888 4 179486578 [A/G] rs6811144 4 179488838 [A/G] rs2378847 4 179491966 [A/G] rs2715544 4 179493721 [A/G] rs2614555 4 179498010 [T/C] rs2715520 4 179514388 [A/G] rs4394037 4 179516915 [A/G] rs4607266 4 179521436 [T/C] rs1434035 4 179530781 [T/C] rs12331446 4 179538235 [T/C] rs5012200 4 179539753 [T/C] rs2715493 4 179541387 [A/G] rs17066521 4 179544637 [A/G] rs12498819 4 179557134 [T/C] rs1897760 4 179564248 [T/C] rs10007324 4 179576074 [A/G] rs2570731 4 179584676 [T/C] rs10014516 4 179594357 [A/G] rs118806 4 179609480 [A/G] rs427796 4 179612525 [A/C] rs4862035 4 179614998 [A/G] rs379519 4 179619524 [A/G] rs423481 4 179625163 [T/C] rs4861516 4 179661007 [A/G] rs346116 4 179662868 [A/G] rs418063 4 179665370 [A/G] rs17732937 4 179677801 [T/G] rs4862126 4 179681882 [T/G] rs346119 4 179683403 [T/C] rs1448958 4 179692090 [T/C] rs4862146 4 179696460 [T/C] rs4862147 4 179698359 [A/G] rs12508820 4 179702044 [A/G] rs11937114 4 179704645 [T/G] rs12504394 4 179704824 [A/G] rs1947202 4 179705308 [A/G] rs7684851 4 179759509 [A/G] rs1348365 4 179802170 [A/C] rs12502810 4 179833516 [A/G] rs11929794 4 179872123 [A/C] rs9998128 4 179896707 [A/G] rs10033034 4 179899458 [A/G] rs930972 4 179917392 [A/G] rs2044868 4 179921499 [A/G] rs7689898 4 179925680 [T/C] rs9995115 4 179926087 [A/C] rs17736809 4 179929126 [A/G] rs6833369 4 179929454 [A/C] rs13137879 4 179940301 [T/G] rs2167373 4 179942389 [T/G] rs9312239 4 179962359 [T/G] rs17067013 4 179963088 [A/C] rs1823603 4 179973430 [T/C] rs7671216 4 179983413 [T/C] rs12499500 4 179989221 [A/G] exm2265896 4 179989221 [A/G] rs10520417 4 179992133 [A/G] rs11724611 4 180002879 [T/C] rs11734391 4 180012674 [T/C] rs11131908 4 180014056 [T/G] rs1975651 4 180024042 [A/G] rs2028492 4 180039967 [T/C] exm-rs17067123 4 180048362 [T/C] rs17067123 4 180048362 [T/C] rs12643053 4 180051555 [A/C] rs13145669 4 180053797 [T/C] rs17067153 4 180055500 [A/G] rs1036767 4 180068417 [A/G] rs1016186 4 180072512 [A/G] rs11939017 4 180085436 [A/G] rs7671333 4 180106072 [A/G] rs4862780 4 180109258 [A/G] rs1379410 4 180131863 [A/G] rs9991397 4 180137681 [A/G] rs17803697 4 180147019 [T/C] rs2383278 4 180148587 [A/G] rs4146838 4 180151019 [T/G] rs7682192 4 180173268 [A/C] rs13108774 4 180173785 [A/C] rs6850582 4 180187024 [T/C] rs12500931 4 180191273 [A/G] rs6828433 4 180193914 [A/G] rs10434252 4 180230319 [T/C] rs6552356 4 180248838 [A/G] rs17817727 4 180250564 [T/C] rs921839 4 180251982 [T/C] rs7665006 4 180253471 [A/G] rs6826259 4 180257370 [T/C] rs7654367 4 180263649 [A/G] rs12511057 4 180271128 [A/G] rs10019140 4 180275389 [A/G] rs17768364 4 180279328 [T/C] exm2265803 4 180280410 [A/G] rs17067488 4 180280410 [A/G] rs6828941 4 180284473 [A/G] rs4861773 4 180293616 [A/G] rs17090630 4 180298293 [A/G] rs1455698 4 180306130 [T/C] rs6841508 4 180313511 [A/G] rs4861775 4 180316651 [A/C] rs17090633 4 180324614 [T/G] rs6837023 4 180330521 [A/G] rs9312251 4 180332717 [A/C] rs13122924 4 180334106 [A/G] rs1378547 4 180335990 [T/C] rs1455661 4 180344099 [T/C] rs4861401 4 180347106 [A/G] rs1378552 4 180356846 [T/C] rs2605047 4 180361361 [T/G] rs12643739 4 180365721 [A/G] rs2716816 4 180383312 [T/C] rs6823606 4 180393970 [A/G] rs6826419 4 180412136 [T/C] rs9991285 4 180414351 [A/G] rs2254490 4 180418475 [T/G] rs13129106 4 180419383 [T/C] rs2605070 4 180420134 [T/G] rs4861784 4 180446118 [T/C] rs10017041 4 180466309 [T/C] exm-rs3911610 4 180472174 [T/C] rs17067795 4 180476903 [T/C] exm2269994 4 180487431 [T/G] rs3911612 4 180493646 [A/G] rs2716785 4 180498452 [T/C] rs2611020 4 180501487 [A/G] rs2920105 4 180505632 [T/C] rs10009213 4 180512644 [T/G] rs4345226 4 180521957 [A/G] rs2584437 4 180522174 [A/G] rs6816822 4 180531692 [T/C] rs3849603 4 180542333 [T/C] rs4526010 4 180551100 [T/C] rs6854193 4 180564205 [T/C] rs10520432 4 180564815 [T/C] rs6836146 4 180579444 [A/C] rs2703825 4 180591326 [A/C] rs3849612 4 180596542 [A/C] rs982088 4 180608655 [A/G] rs12500438 4 180613345 [T/C] rs4861798 4 180624051 [A/G] rs4373197 4 180627328 [A/G] rs10084772 4 180635834 [T/C] rs6852457 4 180652005 [T/C] rs17746001 4 180655625 [T/C] rs12502245 4 180659401 [A/C] rs17068069 4 180659403 [T/G] rs1380000 4 180661580 [T/G] rs10050025 4 180663940 [A/G] exm-rs2383393 4 180664653 [A/G] rs6851499 4 180672548 [T/C] rs2100686 4 180673271 [A/G] rs17068140 4 180683541 [A/G] rs11131944 4 180687498 [A/G] rs6844851 4 180688000 [T/C] rs7678609 4 180696728 [A/G] rs7674308 4 180704767 [T/C] rs11495908 4 180704918 [A/G] rs1903027 4 180715010 [T/C] rs13115756 4 180716739 [A/G] rs11729049 4 180719585 [A/G] rs13101669 4 180745286 [T/C] rs17068207 4 180745339 [T/C] rs1458669 4 180747463 [A/G] rs1379983 4 180757043 [A/G] rs7685478 4 180758188 [T/C] rs6552396 4 180764869 [A/C] rs10520438 4 180764928 [A/G] rs986247 4 180772704 [T/C] rs6832008 4 180774423 [A/G] rs12651279 4 180790098 [A/G] rs922031 4 180791236 [A/C] rs17068292 4 180794840 [T/C] rs7655189 4 180798964 [A/G] exm2264076 4 180802775 [A/C] rs1458664 4 180818705 [T/C] rs1947622 4 180822313 [A/C] rs11934076 4 180823827 [T/C] rs1870347 4 180824638 [A/G] rs1545671 4 180834630 [T/C] rs10780062 4 180856616 [A/G] rs9991082 4 180857874 [A/G] rs17068418 4 180862232 [T/C] rs2125431 4 180867238 [A/G] rs7675742 4 180877617 [T/C] rs1814673 4 180878172 [A/G] rs4861822 4 180880956 [A/G] rs6810891 4 180893766 [A/C] rs7674405 4 180896929 [A/C] rs1994813 4 180899782 [A/C] rs4861824 4 180903852 [A/G] rs9991368 4 180915780 [A/C] rs6858037 4 180920056 [T/C] rs4861826 4 180920998 [A/C] rs10019132 4 180922702 [A/G] rs6552407 4 180929612 [A/G] rs6837073 4 180933347 [A/C] rs4521383 4 180934921 [A/G] rs1316917 4 180942572 [T/C] rs17771724 4 180955602 [A/G] rs2309124 4 180958428 [A/C] rs1112857 4 180959787 [T/C] rs1994816 4 180968431 [A/G] rs7690743 4 180988794 [T/C] rs1689004 4 181008167 [T/C] rs6830355 4 181011016 [T/C] rs7656301 4 181027678 [T/G] rs7679909 4 181028368 [A/G] rs7697007 4 181028790 [A/G] rs13135628 4 181048589 [T/C] rs10520442 4 181051943 [A/C] rs1689021 4 181056626 [A/C] rs1447320 4 181075687 [T/C] rs13129209 4 181076187 [T/C] rs13121605 4 181084084 [A/G] rs17068788 4 181088534 [A/G] rs7677721 4 181098462 [A/G] rs6836062 4 181108510 [A/G] rs10027059 4 181118760 [A/G] rs11734697 4 181125964 [A/G] rs10007350 4 181126498 [A/G] rs17068958 4 181139421 [T/C] rs10020349 4 181153885 [A/G] rs10520443 4 181158380 [A/G] rs17069022 4 181161490 [A/G] rs11734278 4 181167766 [A/G] rs17069038 4 181169328 [A/C] rs11131981 4 181186334 [T/C] rs7667016 4 181193110 [T/G] rs17069051 4 181196155 [T/G] rs10018538 4 181205991 [T/C] rs17777325 4 181207294 [T/C] rs12501188 4 181221012 [T/C] rs17069124 4 181221342 [T/C] rs4991519 4 181227321 [A/G] rs13106873 4 181235156 [A/G] rs13105027 4 181240076 [A/G] rs17069214 4 181247001 [T/C] rs6847807 4 181247685 [A/G] rs6552415 4 181253016 [A/G] rs7688867 4 181253362 [T/C] rs13113937 4 181266001 [T/C] exm2269995 4 181288587 [T/G] rs2309241 4 181301107 [A/G] rs10032868 4 181303512 [A/G] rs10780063 4 181310204 [A/G] rs4437296 4 181310570 [T/C] rs11734423 4 181313921 [T/C] rs4473690 4 181315369 [T/G] rs7659432 4 181318838 [A/G] rs2871153 4 181320766 [T/G] rs2871159 4 181328600 [T/C] rs6552422 4 181329037 [T/C] rs12509071 4 181342591 [T/C] rs2677008 4 181343571 [T/C] rs1320084 4 181350463 [A/C] rs2546589 4 181368684 [A/G] rs7674341 4 181375630 [A/G] rs2546581 4 181382631 [A/C] rs2546575 4 181405666 [A/G] rs2546614 4 181426359 [A/G] rs6829918 4 181438804 [A/G] rs2546595 4 181440620 [T/G] rs6843673 4 181440776 [T/C] rs2059117 4 181441802 [T/G] rs3113753 4 181450318 [T/G] rs1422738 4 181450417 [T/C] rs17069618 4 181451934 [A/G] rs17795466 4 181456588 [T/C] exm2256509 4 181460127 [A/G] rs12502732 4 181462408 [T/C] rs7669469 4 181463308 [A/G] rs17069681 4 181468667 [A/G] rs998760 4 181469160 [A/G] rs6851088 4 181471913 [A/G] rs1422506 4 181476804 [A/G] rs1559103 4 181479147 [A/G] rs7656346 4 181489069 [A/G] rs6552431 4 181493355 [A/G] rs749463 4 181494406 [T/C] rs6851035 4 181499684 [T/C] rs6857566 4 181500662 [A/G] rs3113757 4 181520702 [A/G] rs17798302 4 181529714 [T/G] rs3113765 4 181535808 [A/G] rs3113773 4 181540757 [A/G] rs2446802 4 181546303 [A/G] rs10000265 4 181555711 [A/G] rs2613041 4 181563321 [T/C] rs2546275 4 181567271 [A/G] rs4861441 4 181571062 [T/C] rs1422513 4 181571542 [A/G] rs17069934 4 181571618 [T/C] rs1422511 4 181574201 [T/C] rs2613055 4 181576122 [A/G] rs2112580 4 181577800 [T/C] rs2546260 4 181584314 [A/G] rs2613072 4 181598141 [A/G] rs2161326 4 181608225 [A/G] rs7667149 4 181608833 [A/G] rs2216624 4 181612806 [T/C] rs1363207 4 181636440 [T/C] rs17807368 4 181639976 [A/G] rs17070051 4 181640911 [T/C] rs1421998 4 181647206 [A/G] rs12643977 4 181663616 [A/C] rs918402 4 181691738 [A/C] rs3101265 4 181699644 [A/G] rs2545306 4 181720229 [A/G] rs2250756 4 181720516 [A/G] rs2613032 4 181729352 [A/G] rs7657018 4 181757422 [A/G] rs17070257 4 181783984 [T/C] rs11722768 4 181785074 [A/G] rs6854060 4 181785938 [T/G] rs6854130 4 181786172 [A/C] rs7692001 4 181801052 [A/G] rs6850503 4 181808235 [A/G] rs10866240 4 181810029 [A/C] rs17070275 4 181813489 [T/G] rs12504749 4 181814242 [T/C] rs1589580 4 181821983 [T/C] rs1533873 4 181825165 [A/G] rs12507955 4 181826016 [A/G] rs4861884 4 181826838 [A/C] rs17070354 4 181850257 [T/C] rs10866243 4 181867512 [T/C] rs6820051 4 181868940 [A/G] rs13115400 4 181885905 [A/G] rs13435468 4 181898870 [T/G] rs2056490 4 181905572 [A/G] rs10016729 4 181907769 [A/G] rs1916109 4 181910926 [A/C] rs6843038 4 181925065 [T/C] rs1357353 4 181935405 [A/G] rs17070468 4 181942406 [A/C] rs7659915 4 181945777 [A/G] rs13121678 4 181957456 [A/G] rs13120104 4 181979722 [T/C] rs12645608 4 182007048 [A/C] NR_033918 LINC00290 Silent rs7659755 4 182009132 [A/G] NR_033918 LINC00290 Silent rs9312270 4 182024045 [A/G] NR_033918 LINC00290 Silent rs13117129 4 182032424 [T/C] NR_033918 LINC00290 Silent rs4861905 4 182033941 [T/G] NR_033918 LINC00290 Silent rs4488971 4 182053380 [A/G] NR_033918 LINC00290 Silent rs998399 4 182054829 [T/C] NR_033918 LINC00290 Silent rs6852438 4 182061996 [T/C] NR_033918 LINC00290 Silent rs6824538 4 182065258 [A/G] NR_033918 LINC00290 Silent rs4349637 4 182065498 [A/C] NR_033918 LINC00290 Silent exm2261674 4 182066471 [T/C] NR_033918 LINC00290 Silent rs6828131 4 182070568 [A/C] NR_033918 LINC00290 Silent rs12503294 4 182077475 [T/G] NR_033918 LINC00290 Silent rs12507155 4 182078896 [A/C] NR_033918 LINC00290 Silent rs7688965 4 182089409 [A/G] rs6844876 4 182092437 [T/G] rs1902112 4 182117057 [T/C] rs6845037 4 182118509 [T/C] rs9999847 4 182120631 [T/C] rs5019445 4 182126122 [A/G] rs9995325 4 182131530 [A/G] rs1869606 4 182135395 [T/G] rs9992143 4 182167822 [T/C] rs7669856 4 182178058 [A/G] rs11727860 4 182179570 [T/C] rs7438836 4 182181119 [T/C] rs10520473 4 182183915 [A/G] rs6844811 4 182185950 [A/G] rs7441242 4 182189790 [A/G] rs11930417 4 182195518 [A/C] rs1563213 4 182199391 [A/G] rs4861931 4 182204531 [A/G] rs4861938 4 182210944 [A/C] rs7681232 4 182213030 [A/G] rs9996848 4 182214915 [A/C] rs6817589 4 182216904 [A/C] rs2309470 4 182222033 [T/C] rs17183114 4 182222727 [T/G] rs11930570 4 182226071 [A/G] rs1115988 4 182234393 [A/G] rs9994198 4 182235447 [T/C] rs6552489 4 182249501 [A/G] rs7675654 4 182266682 [A/G] rs1987162 4 182278636 [A/G] rs17071170 4 182279787 [A/G] rs4621476 4 182280863 [T/C] rs4861947 4 182284224 [A/C] rs6829606 4 182284314 [A/C] rs6836888 4 182285422 [T/C] rs7692027 4 182287004 [A/G] rs7682400 4 182292227 [T/C] exm2264077 4 182293083 [A/C] rs6834709 4 182295274 [A/C] rs10520478 4 182295676 [T/C] rs2309472 4 182300733 [A/G] rs4479746 4 182311928 [A/G] rs11132055 4 182322805 [T/G] rs17071292 4 182327465 [T/C] rs724657 4 182327868 [A/G] rs7698202 4 182338549 [T/C] rs6552500 4 182342069 [T/C] rs7692661 4 182345272 [T/C] rs4861475 4 182347670 [T/C] rs13112319 4 182348386 [T/C] rs892862 4 182350247 [A/C] rs6827352 4 182354145 [A/C] rs6828912 4 182362615 [T/G] rs11723828 4 182363381 [A/C] rs1991989 4 182367808 [A/G] rs4861960 4 182372333 [T/C] rs1435499 4 182376357 [A/C] rs10027214 4 182377628 [A/C] rs1435501 4 182383645 [A/C] rs7695194 4 182387603 [A/G] rs1991988 4 182391631 [T/C] rs1991987 4 182391672 [A/G] rs28437883 4 182391939 [A/G] rs12645810 4 182396195 [A/G] rs4861967 4 182398593 [T/C] exm-rs7672826 4 182399695 [A/G] rs1561000 4 182403824 [T/G] rs4861970 4 182407681 [T/G] rs4861477 4 182411580 [A/C] rs10520489 4 182412992 [A/G] rs4861975 4 182416097 [A/C] rs920083 4 182431113 [A/G] rs13107304 4 182432295 [A/C] rs4861977 4 182433238 [A/G] rs10520484 4 182433814 [A/C] rs1435497 4 182434469 [T/C] rs17071683 4 182438604 [T/G] rs974578 4 182447323 [T/C] rs17071724 4 182458937 [T/C] rs7680020 4 182461424 [T/C] rs7697865 4 182463503 [T/C] rs9998972 4 182463971 [A/C] rs13103500 4 182473726 [T/G] rs2043893 4 182477386 [A/G] rs1025758 4 182480385 [T/G] rs7440035 4 182482973 [T/G] rs6845687 4 182487135 [T/C] rs6845256 4 182490447 [T/C] rs4861485 4 182493718 [A/G] rs10520496 4 182514392 [A/G] exm2264078 4 182537084 [A/C] rs9799857 4 182537718 [T/G] rs17071912 4 182539137 [T/C] rs745704 4 182544544 [T/C] rs745705 4 182544594 [A/G] rs715745 4 182548076 [A/G] rs7662677 4 182565693 [A/G] rs7658791 4 182582942 [A/C] rs6835945 4 182585855 [T/C] rs1439273 4 182588504 [T/C] rs10471178 4 182589046 [T/C] rs13144599 4 182591864 [T/C] rs17279535 4 182592981 [T/C] rs4861998 4 182594688 [T/C] rs1371215 4 182601609 [T/C] rs4527522 4 182611537 [T/C] rs12503151 4 182612164 [T/G] rs2309573 4 182614559 [T/G] exm-rs4299631 4 182615625 [T/C] rs17072125 4 182616401 [T/C] rs7689930 4 182621264 [A/G] rs12502114 4 182641214 [A/G] rs2309541 4 182643207 [A/G] rs13113072 4 182646450 [A/G] rs2309545 4 182649354 [T/C] rs6855392 4 182669719 [T/C] rs2309550 4 182673224 [A/G] rs7659598 4 182699379 [A/G] rs6855088 4 182704551 [A/G] rs11733364 4 182710802 [A/G] rs10013118 4 182711326 [T/G] rs6552523 4 182720291 [T/C] rs7665942 4 182724616 [A/G] rs17072291 4 182724752 [A/G] rs6815030 4 182727134 [T/C] rs10012329 4 182740613 [T/C] rs11728634 4 182744106 [A/C] rs7434383 4 182747639 [A/G] rs17072369 4 182748677 [T/C] rs10001447 4 182756765 [T/C] rs12508245 4 182770248 [A/C] rs11931121 4 182775986 [A/G] rs6838314 4 182780188 [A/G] rs1914369 4 182780568 [A/G] rs6823165 4 182784916 [T/C] rs10018081 4 182792074 [A/C] rs965523 4 182794879 [A/G] rs1400625 4 182798961 [T/C] rs11724059 4 182805092 [A/G] rs2138743 4 182817317 [T/C] rs1400624 4 182817468 [T/C] rs17072509 4 182828390 [A/G] rs2199118 4 182847338 [A/G] rs9993255 4 182868840 [A/G] rs11944284 4 182880942 [T/C] rs13141696 4 182886016 [T/C] rs9992244 4 182888219 [T/G] rs2063956 4 182895078 [A/G] rs17288133 4 182913820 [A/G] rs7697411 4 182917804 [A/C] rs12503812 4 182918564 [A/G] rs977361 4 182933601 [T/C] rs6816160 4 182942414 [A/G] exm2261675 4 182944838 [A/G] rs9993807 4 182951552 [A/G] rs1979296 4 182959578 [A/C] rs17072678 4 182964412 [A/G] rs7693462 4 182965163 [A/G] rs10866253 4 182973237 [T/C] rs6812990 4 182975220 [T/C] rs2597144 4 182988914 [T/C] rs2609554 4 182990909 [A/G] rs2597125 4 182996793 [T/G] rs13135549 4 183000925 [T/C] rs2034975 4 183007922 [A/G] rs6840333 4 183008639 [A/G] rs749763 4 183018034 [A/G] rs335101 4 183021079 [A/G] rs10022206 4 183023943 [T/C] rs17304841 4 183029476 [A/G] rs1458893 4 183033029 [T/C] rs17226385 4 183034755 [T/G] rs335068 4 183047903 [A/G] rs335067 4 183048696 [T/C] rs1125145 4 183061232 [A/G] NR_027107 MGC45800 EXON Silent rs9312290 4 183067139 [A/G] rs876836 4 183077514 [T/G] rs7695632 4 183078161 [T/C] rs12640278 4 183081780 [A/G] rs896028 4 183087547 [T/C] rs13126808 4 183091203 [T/C] rs1450146 4 183111871 [A/C] rs7349674 4 183123850 [T/C] rs4861499 4 183132543 [A/G] rs17308154 4 183137216 [A/G] rs2726807 4 183137398 [T/C] rs2249112 4 183141735 [T/C] rs7668736 4 183161620 [T/C] rs7694663 4 183162284 [T/C] rs11736246 4 183178219 [T/C] rs2063905 4 183198752 [T/G] rs938526 4 183213736 [T/C] rs2675539 4 183237479 [A/C] rs2675534 4 183239761 [A/G] exm435412 4 183245255 [A/G] NM_001080477 TENM3 EXON Missense_A28T rs6845440 4 183248852 [T/C] NM_001080477 TENM3 Silent rs1516530 4 183260894 [T/C] NM_001080477 TENM3 Silent exm435417 4 183267926 [T/G] NM_001080477 TENM3 EXON Missense_D119Y exm2256514 4 183268010 [T/C] NM_001080477 TENM3 EXON Synonymous_L147L rs4861505 4 183271349 [T/G] NM_001080477 TENM3 Silent exm2256515 4 183272312 [T/C] NM_001080477 TENM3 Silent rs6813422 4 183285393 [T/C] NM_001080477 TENM3 Silent rs930878 4 183296575 [T/G] NM_001080477 TENM3 Silent rs1878221 4 183302059 [T/C] NM_001080477 TENM3 Silent rs6830860 4 183327907 [A/G] NM_001080477 TENM3 Silent rs17073255 4 183330031 [T/C] NM_001080477 TENM3 Silent rs10050018 4 183349618 [T/C] NM_001080477 TENM3 Silent rs6822105 4 183361857 [A/G] NM_001080477 TENM3 Silent rs17073286 4 183364714 [T/C] NM_001080477 TENM3 Silent rs12505033 4 183367131 [T/C] NM_001080477 TENM3 Silent rs2063906 4 183376566 [A/G] NM_001080477 TENM3 Silent rs6830998 4 183380952 [A/G] NM_001080477 TENM3 Silent rs9312297 4 183382591 [T/C] NM_001080477 TENM3 Silent rs10461323 4 183405200 [T/C] NM_001080477 TENM3 Silent rs11132133 4 183405506 [A/G] NM_001080477 TENM3 Silent rs4626248 4 183405866 [A/G] NM_001080477 TENM3 Silent rs2309731 4 183412942 [T/C] NM_001080477 TENM3 Silent rs6838995 4 183417126 [A/G] NM_001080477 TENM3 Silent rs4862073 4 183427057 [A/G] NM_001080477 TENM3 Silent rs7657508 4 183438470 [A/G] NM_001080477 TENM3 Silent rs11736841 4 183439439 [T/C] NM_001080477 TENM3 Silent rs6552568 4 183449806 [T/C] NM_001080477 TENM3 Silent rs869240 4 183452259 [A/G] NM_001080477 TENM3 Silent rs11731599 4 183454132 [A/G] NM_001080477 TENM3 Silent rs13110757 4 183458613 [A/G] NM_001080477 TENM3 Silent rs6840083 4 183464677 [A/G] NM_001080477 TENM3 Silent rs4428328 4 183472582 [A/G] NM_001080477 TENM3 Silent rs7674760 4 183476247 [A/G] NM_001080477 TENM3 Silent rs10013166 4 183477329 [A/G] NM_001080477 TENM3 Silent rs7670152 4 183484147 [T/G] NM_001080477 TENM3 Silent rs17258176 4 183486609 [A/G] NM_001080477 TENM3 Silent rs10020119 4 183500457 [T/G] NM_001080477 TENM3 Silent rs6552578 4 183501781 [A/G] NM_001080477 TENM3 Silent rs13145682 4 183504017 [T/C] NM_001080477 TENM3 Silent rs6833629 4 183521798 [A/G] NM_001080477 TENM3 Silent rs11132137 4 183525697 [T/C] NM_001080477 TENM3 Silent rs6814485 4 183526414 [A/G] NM_001080477 TENM3 Silent rs12499296 4 183536086 [A/G] NM_001080477 TENM3 Silent rs11132138 4 183543770 [T/C] NM_001080477 TENM3 Silent exm2240724 4 183549905 [A/G] NM_001080477 TENM3 EXON Missense_R284Q rs12639914 4 183553276 [A/G] NM_001080477 TENM3 Silent exm-rs6841520 4 183553379 [A/G] NM_001080477 TENM3 Silent rs17325360 4 183556869 [A/G] NM_001080477 TENM3 Silent rs7688538 4 183559306 [T/C] NM_001080477 TENM3 Silent rs4507403 4 183559425 [T/C] NM_001080477 TENM3 Silent rs11722354 4 183565618 [T/C] NM_001080477 TENM3 Silent rs11937177 4 183576221 [A/G] NM_001080477 TENM3 Silent rs4386638 4 183581152 [A/G] NM_001080477 TENM3 Silent rs17073734 4 183584040 [A/G] NM_001080477 TENM3 Silent rs2309774 4 183590236 [A/C] NM_001080477 TENM3 Silent rs2309760 4 183591332 [A/G] NM_001080477 TENM3 Silent exm435453 4 183594275 [T/C] NM_001080477 TENM3 EXON Missense_I410T exm2070461 4 183600871 [A/G] NM_001080477 TENM3 EXON Missense_R460Q exm435457 4 183600886 [T/C] NM_001080477 TENM3 EXON Missense_T465M exm435460 4 183600897 [A/G] NM_001080477 TENM3 EXON Missense_G469R exm435463 4 183600915 [A/G] NM_001080477 TENM3 EXON Missense_V475I exm435466 4 183600933 [A/G] NM_001080477 TENM3 EXON Missense_G481S exm435468 4 183601017 [A/G] NM_001080477 TENM3 EXON Missense_T509A exm435471 4 183601414 [T/A] NM_001080477 TENM3 EXON Missense_E517D exm435473 4 183601448 [A/G] NM_001080477 TENM3 EXON Missense_V529I exm435480 4 183601761 [A/G] NM_001080477 TENM3 EXON Missense_G569S exm435485 4 183601819 [C/G] NM_001080477 TENM3 EXON Missense_G588A exm435494 4 183603051 [A/G] NM_001080477 TENM3 EXON Missense_N640S rs11938233 4 183605088 [A/G] NM_001080477 TENM3 Silent exm435504 4 183609367 [T/C] NM_001080477 TENM3 EXON Missense_T695M exm435505 4 183609373 [A/G] NM_001080477 TENM3 EXON Missense_R697H rs6845497 4 183611553 [A/G] NM_001080477 TENM3 Silent rs7694547 4 183612535 [T/G] NM_001080477 TENM3 Silent rs4241748 4 183618777 [T/C] NM_001080477 TENM3 Silent rs10434298 4 183622901 [T/C] NM_001080477 TENM3 Silent rs6841510 4 183628586 [A/G] NM_001080477 TENM3 Silent exm435527 4 183651357 [T/G] NM_001080477 TENM3 EXON Missense_A864S rs6829893 4 183651765 [A/G] NM_001080477 TENM3 Silent rs6833719 4 183655548 [T/C] NM_001080477 TENM3 Silent exm2070486 4 183658159 [A/G] NM_001080477 TENM3 EXON Missense_A1056T exm435544 4 183659649 [A/G] NM_001080477 TENM3 EXON Missense_M1111V rs12648546 4 183661673 [A/C] NM_001080477 TENM3 Silent rs6552603 4 183663175 [T/G] NM_001080477 TENM3 Silent exm435547 4 183664379 [A/G] NM_001080477 TENM3 EXON Missense_V1146M rs7654255 4 183664522 [T/C] NM_001080477 TENM3 EXON Synonymous_Y1193Y rs7690035 4 183666740 [A/G] NM_001080477 TENM3 Silent exm435557 4 183673011 [A/G] NM_001080477 TENM3 EXON Missense_V1230I rs33914616 4 183675227 [T/C] NM_001080477 TENM3 Silent exm435572 4 183675659 [A/G] NM_001080477 TENM3 EXON Missense_R1380Q exm2070514 4 183675803 [A/G] NM_001080477 TENM3 EXON Missense_R1428Q exm435582 4 183675926 [T/C] NM_001080477 TENM3 EXON Missense_A1469V exm435583 4 183676061 [T/C] NM_001080477 TENM3 EXON Missense_A1514V exm435584 4 183676069 [A/G] NM_001080477 TENM3 EXON Missense_T1517A exm435585 4 183676100 [A/G] NM_001080477 TENM3 EXON Missense_N1527S rs17074044 4 183689666 [A/G] NM_001080477 TENM3 Silent exm435596 4 183694642 [A/G] NM_001080477 TENM3 EXON Missense_R1637H exm435613 4 183696245 [A/G] NM_001080477 TENM3 EXON Missense_E1748G exm435616 4 183696295 [T/C] NM_001080477 TENM3 EXON Missense_R1765C rs17074066 4 183709536 [T/C] NM_001080477 TENM3 Silent exm435625 4 183710445 [A/G] NM_001080477 TENM3 EXON Missense_G1835D exm435626 4 183710456 [A/G] NM_001080477 TENM3 EXON Missense_E1839K exm435629 4 183713487 [T/C] NM_001080477 TENM3 EXON Missense_R1888C exm435646 4 183713987 [C/G] NM_001080477 TENM3 EXON Missense_E2054D exm2256516 4 183714101 [T/C] NM_001080477 TENM3 EXON Synonymous_Y2092Y variant.83580 4 183714127 [A/G] NM_001080477 TENM3 EXON Nonsense_W2101X exm435663 4 183714418 [A/G] NM_001080477 TENM3 EXON Missense_R2198H exm435669 4 183714507 [T/C] NM_001080477 TENM3 EXON Missense_R2228C exm2070534 4 183714585 [A/C] NM_001080477 TENM3 EXON Missense_T2254P variant.83582 4 183714916 [A/G] NM_001080477 TENM3 EXON Nonsense_W2364X variant.83583 4 183717920 [A/G] NM_001080477 TENM3 EXON Synonymous_P2448P exm435701 4 183721107 [A/G] NM_001080477 TENM3 EXON Missense_R2568H exm435706 4 183721275 [C/G] NM_001080477 TENM3 EXON Missense_A2624G exm435714 4 183721418 [A/G] NM_001080477 TENM3 EXON Missense_V2672I rs2309777 4 183722743 [T/C] NM_001080477 TENM3 EXON Silent rs6858295 4 183735049 [T/C] rs4862103 4 183735309 [A/G] rs6822595 4 183768698 [A/G] exm2265806 4 183777997 [A/G] rs4861534 4 183791706 [A/G] rs17271644 4 183809272 [T/C] rs6829021 4 183810141 [A/G] rs3190314 4 183812287 [A/G] NM_001012732,NM_001921 DCTD,DCTD EXON Silent,Silent rs9542 4 183812351 [T/C] NM_001012732,NM_001921 DCTD,DCTD EXON Silent,Silent exm2256517 4 183812618 [T/C] NM_001012732,NM_001921 DCTD,DCTD EXON Synonymous_P168P,Synonymous_P157P indel.83586 4 183815692 [D/I] NM_001012732,NM_001921 DCTD,DCTD EXON rs6831306 4 183819095 [T/C] NM_001012732,NM_001921 DCTD,DCTD Silent,Silent rs13101260 4 183823597 [A/G] NM_001012732,NM_001921 DCTD,DCTD Silent,Silent rs6823077 4 183833942 [A/C] NM_001012732,NM_001921 DCTD,DCTD Silent,Silent exm435735 4 183836077 [A/G] NM_001012732,NM_001921 DCTD,DCTD EXON Synonymous_Y92Y,Synonymous_Y81Y exm435738 4 183836148 [T/C] NM_001012732,NM_001921 DCTD,DCTD EXON Missense_N69D,Missense_N58D exm435741 4 183836196 [T/C] NM_001012732,NM_001921 DCTD,DCTD EXON Missense_V53M,Missense_V42M rs5016499 4 183840898 [T/G] rs13117933 4 183849072 [A/G] rs4453974 4 183873241 [T/C] rs2714510 4 183880263 [T/C] rs1454371 4 183907715 [T/C] rs4069861 4 183916674 [T/G] rs7660903 4 183942308 [T/C] rs2603348 4 183957884 [T/G] rs2016910 4 183959226 [T/G] NR_003612 FAM92A1P2 EXON Silent rs4450975 4 183963607 [T/C] rs6850320 4 183989102 [A/G] rs6825466 4 183995589 [T/C] kgp8647341 4 183997425 [T/G] rs11736402 4 184010717 [A/G] rs6846985 4 184060896 [A/G] NM_024949 WWC2 Silent rs11935093 4 184063608 [T/G] NM_024949 WWC2 Silent rs4469120 4 184098334 [A/G] NM_024949 WWC2 Silent rs6845251 4 184122020 [T/C] NM_024949 WWC2 Silent rs6831552 4 184127332 [T/C] NM_024949 WWC2 Silent variant.83588 4 184166605 [T/G] NM_024949 WWC2 EXON Nonsense_Y213X variant.83589 4 184170014 [T/G] NM_024949 WWC2 Silent variant.83590 4 184171148 [T/C] NM_024949 WWC2 Silent exm435789 4 184175037 [A/G] NM_024949 WWC2 EXON Missense_V361I rs7695317 4 184179699 [A/G] NM_024949 WWC2 Silent exm435797 4 184180853 [A/T] NM_024949 WWC2 EXON Missense_T420S exm435802 4 184182124 [T/C] NM_024949 WWC2 EXON Missense_R450W exm435803 4 184182125 [A/G] NM_024949 WWC2 EXON Missense_R450Q indel.83591 4 184182253 [I/D] NM_024949 WWC2 EXON exm435827 4 184186853 [T/G] NM_024949 WWC2 EXON Missense_M684I exm435830 4 184186899 [A/G] NM_024949 WWC2 EXON Missense_A700T exm2261676 4 184189457 [A/G] NM_024949 WWC2 Silent exm435836 4 184190140 [A/G] NM_024949 WWC2 EXON Missense_V742I exm435842 4 184190210 [T/C] NM_024949 WWC2 EXON Missense_L765S exm435845 4 184190233 [T/G] NM_024949 WWC2 EXON Missense_A773S exm435849 4 184190300 [A/G] NM_024949 WWC2 EXON Missense_R795Q exm435854 4 184192278 [T/G] NM_024949 WWC2 EXON Missense_V816F exm435861 4 184192366 [A/C] NM_024949 WWC2 EXON Missense_N845T exm435863 4 184192386 [A/G] NM_024949 WWC2 EXON Missense_I852V rs11132173 4 184201909 [A/G] NM_024949 WWC2 Silent exm435871 4 184203886 [G/C] NM_024949 WWC2 EXON Missense_D904H exm435874 4 184203952 [T/A] NM_024949 WWC2 EXON Missense_L926I exm435877 4 184204010 [A/G] NM_024949 WWC2 EXON Missense_N945S exm435878 4 184204037 [T/C] NM_024949 WWC2 EXON Missense_P954L exm2240734 4 184205415 [A/G] NM_024949 WWC2 EXON Missense_D974N exm435882 4 184205430 [T/C] NM_024949 WWC2 EXON Missense_R979C exm435884 4 184205482 [A/G] NM_024949 WWC2 EXON Missense_S996N exm435886 4 184205542 [A/G] NM_024949 WWC2 EXON Missense_R1016K exm435899 4 184210648 [T/C] NM_024949 WWC2 EXON Missense_R1082C exm435900 4 184210649 [T/G] NM_024949 WWC2 EXON Missense_R1082L exm435901 4 184210655 [A/G] NM_024949 WWC2 EXON Missense_N1084S exm435902 4 184210670 [T/C] NM_024949 WWC2 EXON Missense_A1089V rs955748 4 184215675 [A/G] NM_024949 WWC2 Silent rs2309875 4 184227066 [T/C] NM_024949 WWC2 Silent rs10003798 4 184230630 [T/C] NM_024949 WWC2 Silent rs6849819 4 184232252 [A/G] NM_024949 WWC2 Silent exm435905 4 184233502 [C/G] NM_024949 WWC2 EXON Missense_Q1131H indel.83594 4 184233506 [I/D] NM_024949 WWC2 EXON exm435907 4 184233566 [A/G] NM_024949 WWC2 EXON Missense_V1153M exm435909 4 184233588 [A/G] NM_024949 WWC2 EXON Missense_S1160N rs907360 4 184234587 [T/C] NM_024949 WWC2 Silent rs13141994 4 184235796 [A/G] NM_024949 WWC2 Silent exm435910 4 184236868 [A/G] NM_024949 WWC2 EXON Missense_A1189T exm2273399 4 184238670 [G/C] NM_024949 WWC2 EXON Silent variant.83596 4 184240759 [A/G] NM_024949,NM_001111319 WWC2,CLDN22 EXON Silent,Nonsense_Q205X exm435922 4 184240974 [A/G] NM_024949,NM_001111319 WWC2,CLDN22 EXON Silent,Missense_A133V exm435929 4 184241281 [T/G] NM_024949,NM_001111319 WWC2,CLDN22 EXON Silent,Missense_P31T exm435931 4 184242959 [G/C] NM_001185149 CLDN24 EXON Missense_Q207H exm435933 4 184243528 [A/G] NM_001185149 CLDN24 EXON Missense_L18F rs2048472 4 184249490 [T/C] rs10029290 4 184270907 [A/C] rs7669080 4 184271019 [A/G] rs7687627 4 184279303 [A/C] rs9992054 4 184281811 [T/C] rs9995832 4 184283411 [T/G] rs1106052 4 184289319 [T/C] rs6821104 4 184292528 [T/C] rs6847638 4 184292928 [T/C] rs17074696 4 184293030 [T/C] rs4602536 4 184298419 [A/G] rs12641554 4 184302684 [A/G] rs1588571 4 184305340 [T/C] exm2264079 4 184322137 [A/C] rs17074740 4 184323983 [A/C] rs11725216 4 184334102 [T/C] rs6858319 4 184345714 [A/G] rs13111484 4 184356574 [A/C] rs4862197 4 184362046 [T/C] exm435945 4 184366755 [A/G] NM_017632 CDKN2AIP EXON Missense_T114A exm435953 4 184367324 [A/G] NM_017632 CDKN2AIP EXON Missense_A163T exm435957 4 184367371 [T/G] NM_017632 CDKN2AIP EXON Missense_C178W exm435969 4 184367561 [T/G] NM_017632 CDKN2AIP EXON Missense_A242S exm435970 4 184367605 [T/G] NM_017632 CDKN2AIP EXON Missense_M256I exm2256519 4 184367638 [T/A] NM_017632 CDKN2AIP EXON Synonymous_G267G exm435975 4 184367686 [A/T] NM_017632 CDKN2AIP EXON Missense_Q283H exm435991 4 184367993 [A/G] NM_017632 CDKN2AIP EXON Missense_K386E rs4241775 4 184384311 [A/G] rs4273514 4 184389698 [T/C] rs10007707 4 184394392 [A/G] rs4862210 4 184399833 [T/C] rs7677714 4 184412581 [T/C] rs6850330 4 184415303 [A/C] rs11723316 4 184415338 [A/C] rs8872 4 184426387 [T/C] NM_001564 ING2 EXON Synonymous_A13A rs6830958 4 184429659 [A/G] NM_001564 ING2 Silent 1KG_4_184431770 4 184431770 [I/D] NM_001564 ING2 EXON exm436019 4 184431843 [T/C] NM_001564 ING2 EXON Missense_A194V rs4524431 4 184458946 [A/G] rs10017798 4 184465856 [T/G] rs4426827 4 184468253 [A/G] rs11726805 4 184471255 [T/C] rs6834876 4 184472543 [A/G] rs4862223 4 184473333 [A/C] rs11723412 4 184494270 [T/C] rs7662749 4 184501675 [T/C] rs11132193 4 184503980 [A/G] rs10011527 4 184507881 [T/C] rs7656979 4 184517243 [A/G] rs12641020 4 184523965 [T/C] rs9884125 4 184526440 [A/G] rs13118994 4 184530109 [T/C] exm-rs10012103 4 184531409 [A/G] rs13128324 4 184535274 [A/G] rs13124076 4 184546565 [A/G] exm2240741 4 184560790 [A/G] NM_152682 RWDD4 EXON Silent variant.83599 4 184567670 [A/G] NM_152682 RWDD4 EXON Nonsense_R168X rs7679973 4 184569516 [T/C] NM_152682 RWDD4 Silent rs6552695 4 184571085 [A/G] NM_152682 RWDD4 Silent rs9790676 4 184575568 [T/C] NM_152682 RWDD4 Silent rs6838230 4 184577177 [T/C] NM_152682 RWDD4 Silent newrs150331292 4 184585162 [T/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Nonsense_R48X,Nonsense_R48X exm436047 4 184585165 [G/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_V49L,Missense_V49L exm436055 4 184587424 [C/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_E73D,Missense_E73D rs4282227 4 184588121 [T/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 Silent,Silent exm436069 4 184588242 [T/A] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_V135D,Missense_V135D exm2265807 4 184600601 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Synonymous_A309A,Synonymous_A309A exm436095 4 184600605 [G/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_L311V,Missense_L311V exm436099 4 184601365 [G/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_A353G,Missense_A353G newrs140403642 4 184603963 [T/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Nonsense_R398X,Nonsense_R398X newrs150383310 4 184605164 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_G415E,Missense_G415E exm436115 4 184605197 [T/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_V426A,Missense_V426A exm436119 4 184605347 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_Y446C,Missense_Y446C exm436126 4 184605957 [T/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_K510N,Missense_K510N exm436133 4 184606497 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_R568Q,Missense_R568Q rs10018951 4 184609373 [T/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 Silent,Silent rs10019182 4 184609457 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 Silent,Silent exm436138 4 184612553 [G/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_V660L,Missense_V660L exm436141 4 184614208 [A/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_E715D,Missense_E715D exm436142 4 184614210 [G/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_A716G,Missense_A716G exm436143 4 184614232 [G/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_F723L,Missense_F723L exm436150 4 184614791 [T/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_P763S,Missense_P763S variant.83606 4 184614895 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 Silent,Silent exm436154 4 184615071 [A/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Synonymous_G796G,Synonymous_G796G variant.83607 4 184615090 [T/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Nonsense_Q803X,Nonsense_Q803X exm436158 4 184615102 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_V807M,Missense_V807M exm436159 4 184615117 [A/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_T812P,Missense_T812P exm436160 4 184615144 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_A821T,Missense_A821T exm436161 4 184615166 [T/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_V828A,Missense_V828A exm436163 4 184615191 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Synonymous_Q836Q,Synonymous_Q836Q exm436165 4 184615778 [A/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_R844S,Missense_R844S exm436177 4 184618936 [C/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_Q933H,Missense_Q933H variant.83609 4 184622936 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_G980R,Missense_G980R exm436192 4 184626187 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_V1007M,Missense_V1007M exm436195 4 184627996 [G/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Missense_P1031R,Missense_P1031R 1KG_4_184628077 4 184628077 [D/I] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON rs4583804 4 184628710 [A/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 Silent,Silent exm436200 4 184629581 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Silent,Missense_G1071S exm436206 4 184629680 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Silent,Missense_T1104A rs9312318 4 184629794 [A/G] NM_199053,NM_021942 TRAPPC11,TRAPPC11 Silent,Silent exm436211 4 184633795 [T/C] NM_199053,NM_021942 TRAPPC11,TRAPPC11 EXON Silent,Missense_X1134R rs4327526 4 184639740 [A/G] rs4862241 4 184641445 [T/C] rs12499750 4 184651150 [A/G] rs13132455 4 184659447 [T/C] rs4130368 4 184668956 [A/G] rs4862250 4 184686219 [A/C] rs4370182 4 184712051 [T/G] rs11722400 4 184727641 [A/C] rs7659026 4 184728682 [T/C] rs7666373 4 184730177 [A/C] rs17075077 4 184754273 [A/G] rs13106255 4 184762700 [A/G] rs6552711 4 184779187 [T/G] rs892836 4 184781037 [A/G] rs13435909 4 184787159 [A/G] rs17075108 4 184789877 [A/G] rs11729441 4 184790301 [A/G] rs7678253 4 184796501 [A/G] rs2871381 4 184811318 [A/G] rs1369445 4 184813876 [A/G] rs17075136 4 184825696 [A/G] rs1560982 4 184826026 [A/G] rs2309942 4 184839829 [A/G] NM_020225 STOX2 Silent exm2265899 4 184851037 [A/G] NM_020225 STOX2 Silent rs2309944 4 184858078 [T/C] NM_020225 STOX2 Silent rs12502711 4 184866656 [A/G] NM_020225 STOX2 Silent rs2871385 4 184875120 [A/C] NM_020225 STOX2 Silent rs2309949 4 184902533 [A/G] NM_020225 STOX2 Silent rs12513114 4 184905863 [T/C] NM_020225 STOX2 Silent rs17090673 4 184918852 [A/G] NM_020225 STOX2 Silent rs3749534 4 184922669 [A/G] NM_020225 STOX2 Silent rs10212888 4 184924281 [A/G] NM_020225 STOX2 Silent exm436242 4 184930646 [A/G] NM_020225 STOX2 EXON Missense_A219T exm436249 4 184930710 [A/G] NM_020225 STOX2 EXON Missense_S240N 1KG_4_184930730 4 184930730 [D/I] NM_020225 STOX2 EXON exm436251 4 184930752 [T/C] NM_020225 STOX2 EXON Missense_S254L exm436252 4 184930953 [A/G] NM_020225 STOX2 EXON Missense_D321G exm436259 4 184931154 [A/G] NM_020225 STOX2 EXON Missense_H388R exm436263 4 184931259 [T/G] NM_020225 STOX2 EXON Missense_M423R exm436264 4 184931351 [G/C] NM_020225 STOX2 EXON Missense_P454A exm436266 4 184931431 [G/C] NM_020225 STOX2 EXON Missense_R480S exm436280 4 184931643 [T/A] NM_020225 STOX2 EXON Missense_Y551F exm436284 4 184931688 [T/C] NM_020225 STOX2 EXON Missense_P566L exm436286 4 184931696 [A/G] NM_020225 STOX2 EXON Missense_A569T exm436303 4 184932032 [A/G] NM_020225 STOX2 EXON Missense_V681I exm436315 4 184932204 [A/G] NM_020225 STOX2 EXON Missense_R738Q exm2256521 4 184932481 [T/C] NM_020225 STOX2 EXON Synonymous_T830T exm436329 4 184932491 [A/G] NM_020225 STOX2 EXON Missense_S834G exm436332 4 184932575 [T/C] NM_020225 STOX2 EXON Missense_R862C rs3811775 4 184936790 [A/G] NM_020225 STOX2 Silent exm436335 4 184938306 [A/G] NM_020225 STOX2 EXON Missense_A884T exm436339 4 184938360 [A/G] NM_020225 STOX2 EXON Missense_A902T rs3749531 4 184943274 [T/G] rs7690914 4 184952005 [A/G] rs6552733 4 184952645 [A/C] rs4862292 4 184958217 [T/C] rs11725377 4 184974967 [T/C] rs4862298 4 184988203 [T/C] rs12650935 4 184989565 [A/G] rs4862299 4 184990090 [A/G] rs6829678 4 185001631 [T/C] exm436351 4 185012401 [T/C] NM_153343 ENPP6 EXON Missense_A418T exm2070780 4 185012425 [T/C] NM_153343 ENPP6 EXON Missense_V410M exm436356 4 185012491 [T/C] NM_153343 ENPP6 EXON Missense_V388I rs6819770 4 185016399 [T/C] NM_153343 ENPP6 Silent rs7669472 4 185019266 [T/C] NM_153343 ENPP6 Silent rs12501526 4 185023826 [T/G] NM_153343 ENPP6 Silent rs4241784 4 185032985 [T/G] NM_153343 ENPP6 Silent rs4862310 4 185034183 [T/G] NM_153343 ENPP6 Silent exm436384 4 185038053 [T/C] NM_153343 ENPP6 EXON Missense_G271R exm436385 4 185038055 [T/C] NM_153343 ENPP6 EXON Missense_R270H exm436389 4 185038161 [T/C] NM_153343 ENPP6 EXON Missense_V235I exm436391 4 185038169 [T/C] NM_153343 ENPP6 EXON Missense_R232H exm436394 4 185038943 [A/G] NM_153343 ENPP6 EXON Missense_T215I rs4554119 4 185062880 [T/C] NM_153343 ENPP6 Silent rs4862321 4 185071227 [T/C] NM_153343 ENPP6 Silent rs9992036 4 185076246 [A/G] NM_153343 ENPP6 Silent rs2310044 4 185086713 [A/G] NM_153343 ENPP6 Silent rs1921561 4 185088648 [T/C] NM_153343 ENPP6 Silent rs2178570 4 185096468 [A/G] NM_153343 ENPP6 Silent rs6842767 4 185104471 [A/G] NM_153343 ENPP6 Silent rs11930046 4 185116224 [A/G] NM_153343 ENPP6 Silent rs4862330 4 185117077 [T/C] NM_153343 ENPP6 Silent rs10011933 4 185127748 [T/C] NM_153343 ENPP6 Silent rs17679896 4 185128095 [T/C] NM_153343 ENPP6 Silent rs11724229 4 185128641 [A/G] NM_153343 ENPP6 Silent rs6819977 4 185137596 [A/C] NM_153343 ENPP6 Silent exm436434 4 185138905 [T/C] NM_153343 ENPP6 EXON Missense_R23H rs1217945 4 185170812 [A/G] rs2703731 4 185173385 [T/G] rs13143366 4 185177832 [T/G] rs12503492 4 185179394 [A/G] rs793911 4 185193099 [A/G] rs793908 4 185194074 [T/G] rs7670891 4 185196778 [A/G] rs17487801 4 185203124 [A/G] rs3796693 4 185205186 [A/G] rs6552771 4 185217356 [A/G] rs6841399 4 185221748 [A/G] rs1467069 4 185222701 [T/C] rs10008153 4 185227184 [T/C] exm2269889 4 185227184 [T/C] rs12641965 4 185241610 [A/C] rs793890 4 185248266 [A/G] rs793892 4 185249147 [T/C] rs793899 4 185252818 [T/C] rs6552774 4 185257159 [A/G] rs793880 4 185265401 [A/G] NR_040108 LOC728175 Silent rs712032 4 185273483 [A/G] NR_040108 LOC728175 Silent rs4326049 4 185278885 [A/G] rs17624012 4 185286768 [A/G] rs4642292 4 185290163 [T/C] rs12505296 4 185299830 [T/C] exm436442 4 185309989 [A/G] NM_002199 IRF2 EXON Missense_R325W exm436444 4 185310015 [A/G] NM_002199 IRF2 EXON Missense_S316F rs13119453 4 185311570 [A/G] NM_002199 IRF2 Silent rs793779 4 185312684 [T/C] NM_002199 IRF2 Silent rs6812958 4 185325242 [A/G] NM_002199 IRF2 Silent exm436467 4 185329318 [A/T] NM_002199 IRF2 EXON Missense_I175F rs3775556 4 185331977 [A/G] NM_002199 IRF2 Silent rs13115095 4 185336262 [A/G] NM_002199 IRF2 Silent rs7677486 4 185336852 [T/C] NM_002199 IRF2 Silent rs890193 4 185343635 [T/C] NM_002199 IRF2 Silent rs11945823 4 185344657 [T/C] NM_002199 IRF2 Silent exm436485 4 185350160 [A/G] NM_002199 IRF2 EXON Missense_T20M exm436486 4 185350161 [T/A] NM_002199 IRF2 EXON Missense_T20S rs12504466 4 185353799 [T/C] NM_002199 IRF2 Silent rs7685698 4 185355556 [T/C] NM_002199 IRF2 Silent rs3775572 4 185369452 [A/G] NM_002199 IRF2 Silent rs3775574 4 185370066 [A/G] NM_002199 IRF2 Silent rs3775580 4 185383746 [T/C] NM_002199 IRF2 Silent rs3775582 4 185388487 [A/G] NM_002199 IRF2 Silent rs7658103 4 185400748 [A/G] rs12172979 4 185406285 [T/C] rs7696696 4 185406638 [A/G] rs6816265 4 185425853 [A/G] rs13111483 4 185458566 [A/G] rs10023706 4 185467652 [A/G] rs2059516 4 185469914 [T/C] rs6844313 4 185482878 [A/G] rs10520563 4 185491838 [A/G] rs6838378 4 185510238 [A/G] rs3970313 4 185520068 [A/G] rs2178094 4 185532342 [T/C] rs7675251 4 185533691 [T/C] rs4862396 4 185543672 [T/C] rs6948 4 185549130 [T/G] NM_004346,NM_032991 CASP3,CASP3 EXON Silent,Silent exm436491 4 185550431 [A/G] NM_004346,NM_032991 CASP3,CASP3 EXON Missense_H277Y,Missense_H277Y variant.83618 4 185550539 [A/G] NM_004346,NM_032991 CASP3,CASP3 EXON Nonsense_R241X,Nonsense_R241X variant.83619 4 185552914 [A/G] NM_004346,NM_032991 CASP3,CASP3 Silent,Silent exm436514 4 185553427 [T/C] NM_004346,NM_032991 CASP3,CASP3 EXON Missense_R101H,Missense_R101H exm436521 4 185556561 [T/C] NM_004346,NM_032991 CASP3,CASP3 EXON Missense_H22R,Missense_H22R rs2019978 4 185557581 [A/C] NM_004346,NM_032991 CASP3,CASP3 Silent,Silent rs12108497 4 185571557 [T/C] NM_152683 CCDC111 Silent indel.83621 4 185578326 [I/D] NM_152683 CCDC111 EXON newrs145651098 4 185578337 [T/C] NM_152683 CCDC111 EXON Nonsense_R15X newrs145035578 4 185580536 [T/C] NM_152683 CCDC111 EXON Nonsense_Q75X exm436538 4 185580557 [A/G] NM_152683 CCDC111 EXON Missense_T82A exm2070852 4 185580578 [T/G] NM_152683 CCDC111 EXON Missense_Y89D rs10011005 4 185581754 [A/G] NM_152683 CCDC111 Silent exm436541 4 185582941 [T/C] NM_152683 CCDC111 EXON Missense_H98Y exm436542 4 185582954 [T/C] NM_152683 CCDC111 EXON Missense_V102A exm436545 4 185587097 [A/T] NM_152683 CCDC111 EXON Missense_L145F exm436549 4 185587165 [A/G] NM_152683 CCDC111 EXON Missense_Q168R exm436551 4 185587186 [A/G] NM_152683 CCDC111 EXON Missense_H175R exm436559 4 185593387 [A/G] NM_152683 CCDC111 EXON Missense_D206G exm436565 4 185593551 [T/C] NM_152683 CCDC111 EXON Missense_P261S var_4_185593614 4 185593614 [A/G] NM_152683 CCDC111 EXON Missense_G282R exm436568 4 185599394 [A/G] NM_152683 CCDC111 EXON Missense_T285A exm436570 4 185599413 [A/G] NM_152683 CCDC111 EXON Missense_R291Q exm436573 4 185599443 [A/G] NM_152683 CCDC111 EXON Missense_R301H exm436597 4 185612736 [G/C] NM_152683 CCDC111 Silent exm436599 4 185612821 [T/C] NM_152683 CCDC111 EXON Synonymous_C460C exm436605 4 185615727 [G/C] NM_152683,NM_024629 CCDC111,MLF1IP EXON Missense_Q493E,Silent exm436606 4 185615764 [A/C] NM_152683,NM_024629 CCDC111,MLF1IP EXON Missense_T505K,Silent exm436611 4 185615875 [A/G] NM_152683,NM_024629 CCDC111,MLF1IP EXON Missense_Y542C,Silent rs13478 4 185616438 [T/C] NM_024629 MLF1IP EXON Silent newrs139224993 4 185616486 [A/G] NM_024629 MLF1IP EXON Nonsense_R405X exm436616 4 185616486 [A/G] NM_024629 MLF1IP EXON Nonsense_R405X exm2070884 4 185616522 [T/C] NM_024629 MLF1IP EXON Missense_K393E exm436620 4 185618801 [T/C] NM_024629 MLF1IP EXON Synonymous_T381T exm436621 4 185618812 [T/C] NM_024629 MLF1IP EXON Missense_V378I variant.83637 4 185621974 [T/C] NM_024629 MLF1IP EXON Missense_R329Q exm436637 4 185623548 [T/C] NM_024629 MLF1IP EXON Missense_Y282C exm436638 4 185623558 [T/C] NM_024629 MLF1IP EXON Missense_A279T exm436639 4 185623579 [T/C] NM_024629 MLF1IP EXON Missense_K272E exm436641 4 185631241 [A/G] NM_024629 MLF1IP EXON Missense_T261I exm436645 4 185634130 [G/C] NM_024629 MLF1IP EXON Missense_R219T exm436646 4 185634143 [A/G] NM_024629 MLF1IP EXON Missense_S215P exm436653 4 185637663 [A/G] NM_024629 MLF1IP EXON Missense_A169V exm436655 4 185637699 [A/G] NM_024629 MLF1IP EXON Missense_I157T variant.83641 4 185637789 [T/C] NM_024629 MLF1IP Silent exm436662 4 185638307 [T/G] NM_024629 MLF1IP EXON Missense_K122Q rs2130392 4 185639169 [A/G] NM_024629 MLF1IP Silent rs10025167 4 185649551 [A/C] NM_024629 MLF1IP Silent exm2070906 4 185650152 [A/T] NM_024629 MLF1IP EXON Missense_D45V exm436685 4 185652115 [A/G] NM_024629 MLF1IP EXON Missense_R19C rs6851816 4 185654837 [T/C] NM_024629 MLF1IP Silent exm436689 4 185655170 [T/C] NM_024629 MLF1IP EXON Missense_G16D exm436690 4 185655171 [T/C] NM_024629 MLF1IP EXON Missense_G16S exm436696 4 185655214 [T/C] NM_024629 MLF1IP EXON Missense_M1I rs4862411 4 185664774 [T/C] exm2273400 4 185678110 [A/G] NM_001995 ACSL1 EXON Silent exm436698 4 185678318 [A/C] NM_001995 ACSL1 EXON Missense_R686S exm2070913 4 185678376 [T/C] NM_001995 ACSL1 EXON Missense_N667S exm436699 4 185678380 [T/C] NM_001995 ACSL1 EXON Missense_D666N exm436701 4 185678418 [A/C] NM_001995 ACSL1 EXON Missense_V653G exm436707 4 185678998 [A/G] NM_001995 ACSL1 EXON Missense_S620L exm436714 4 185681557 [T/C] NM_001995 ACSL1 EXON Missense_R579Q exm436721 4 185683561 [A/T] NM_001995 ACSL1 EXON Synonymous_P546P rs3749233 4 185687233 [T/C] NM_001995 ACSL1 Silent exm436747 4 185689471 [T/C] NM_001995 ACSL1 EXON Missense_R376Q rs4862417 4 185690601 [A/G] NM_001995 ACSL1 Silent exm436754 4 185694275 [T/C] NM_001995 ACSL1 EXON Missense_N292S exm436764 4 185697684 [T/C] NM_001995 ACSL1 EXON Missense_R237Q exm436767 4 185697709 [T/C] NM_001995 ACSL1 EXON Missense_A229T var_4_185698033 4 185698033 [T/C] NM_001995 ACSL1 Silent exm436772 4 185698055 [A/G] NM_001995 ACSL1 EXON Missense_T187M exm436773 4 185698092 [T/C] NM_001995 ACSL1 EXON Missense_V175I exm436774 4 185698094 [A/C] NM_001995 ACSL1 EXON Missense_I174S exm2070949 4 185701503 [T/C] NM_001995 ACSL1 EXON Missense_A154T rs1803898 4 185701549 [T/G] NM_001995 ACSL1 EXON Synonymous_I138I rs11132255 4 185718727 [A/G] NM_001995 ACSL1 Silent exm436799 4 185724475 [A/G] NM_001995 ACSL1 EXON Missense_A65V rs6552828 4 185725416 [A/G] NM_001995 ACSL1 Silent rs1554336 4 185744820 [T/C] NM_001995 ACSL1 Silent rs12503643 4 185746088 [T/G] NM_001995 ACSL1 Silent rs10027540 4 185750840 [A/G] rs4862428 4 185767176 [A/G] NR_037867 LOC731424 EXON Silent exm2269890 4 185767941 [T/C] NR_037867 LOC731424 Silent rs4862432 4 185771979 [A/G] rs13144344 4 185776616 [A/G] rs12650715 4 185776850 [A/G] rs13142179 4 185781717 [T/C] rs4862448 4 185788486 [T/C] rs4862450 4 185788762 [T/G] rs4862451 4 185789995 [A/G] rs7670324 4 185791901 [T/C] rs6822813 4 185808934 [T/C] rs6835984 4 185810760 [A/G] rs6552840 4 185828677 [A/G] rs4392546 4 185830781 [T/C] rs4496623 4 185835029 [A/G] rs10005243 4 185845735 [A/G] rs6835458 4 185847793 [A/G] rs10001154 4 185849906 [T/C] rs7682801 4 185853636 [A/G] rs10446837 4 185859682 [A/G] rs12641377 4 185861258 [A/G] rs4370185 4 185869216 [T/C] rs13143382 4 185877443 [A/G] rs6419946 4 185882454 [T/G] rs10866272 4 185884206 [A/G] rs4355430 4 185885897 [T/C] rs9993348 4 185894655 [A/G] rs6843954 4 185907334 [A/G] rs6820983 4 185916343 [T/C] rs11722349 4 185928446 [T/C] rs7664096 4 185929997 [T/C] exm436815 4 185940174 [T/G] NM_001029887 HELT EXON Missense_R31L exm2275335 4 185940205 [A/C] NM_001029887 HELT EXON Nonsense_C41X exm436825 4 185940785 [A/C] NM_001029887 HELT EXON Missense_P91H exm436831 4 185940952 [G/C] NM_001029887 HELT EXON Missense_L147V exm436832 4 185940979 [T/C] NM_001029887 HELT EXON Missense_P156S rs901434 4 185941196 [A/G] NM_001029887 HELT Silent exm436851 4 185941682 [A/G] NM_001029887 HELT EXON Missense_G247D rs6851788 4 185946538 [T/C] rs10019464 4 185948996 [A/G] rs752632 4 185957817 [T/C] rs1012518 4 185965017 [T/C] rs4862495 4 185973097 [A/C] rs728756 4 185977068 [T/G] rs4415003 4 185977226 [T/C] exm2269997 4 185981436 [T/C] rs4861655 4 185983220 [A/G] rs10023344 4 185999348 [T/C] rs4861656 4 186008402 [T/C] rs11132275 4 186013276 [A/G] rs13120719 4 186019565 [T/C] rs12512707 4 186026909 [T/C] rs2310155 4 186029032 [A/C] rs6853087 4 186044138 [T/C] rs10002793 4 186045532 [T/C] rs1486668 4 186045738 [A/G] rs10024068 4 186063341 [A/G] exm436881 4 186066296 [A/G] NM_001151 SLC25A4 EXON Missense_I164V rs11729551 4 186071932 [A/G] exm436900 4 186084055 [A/G] NM_020827 KIAA1430 EXON Missense_T499M exm436902 4 186085219 [A/G] NM_020827 KIAA1430 EXON Missense_R479W exm436905 4 186085260 [T/C] NM_020827 KIAA1430 EXON Missense_H465R exm436911 4 186096938 [A/G] NM_020827 KIAA1430 Silent exm436912 4 186096969 [C/G] NM_020827 KIAA1430 EXON Missense_E431Q exm436926 4 186097190 [T/C] NM_020827 KIAA1430 EXON Missense_D357G exm436930 4 186111306 [A/G] NM_020827 KIAA1430 EXON Missense_L349F exm436932 4 186111347 [T/G] NM_020827 KIAA1430 EXON Missense_H335P 1KG_4_186111420 4 186111420 [I/D] NM_020827 KIAA1430 EXON rs1133657 4 186111639 [T/C] NM_020827 KIAA1430 EXON Missense_T238A exm436943 4 186111639 [T/C] NM_020827 KIAA1430 EXON Missense_T238A exm436946 4 186111746 [A/G] NM_020827 KIAA1430 EXON Missense_P202L exm436952 4 186111866 [A/G] NM_020827 KIAA1430 EXON Missense_I162T indel.83654 4 186112085 [D/I] NM_020827 KIAA1430 EXON rs3108237 4 186112111 [A/G] NM_020827 KIAA1430 EXON Synonymous_P80P exm436966 4 186112180 [T/C] NM_020827 KIAA1430 EXON Missense_M57I exm436968 4 186112208 [T/G] NM_020827 KIAA1430 EXON Missense_T48K exm2269891 4 186117162 [T/C] NM_020827 KIAA1430 Silent rs1534140 4 186117162 [T/C] NM_020827 KIAA1430 Silent rs3108244 4 186125842 [A/G] rs2310159 4 186134204 [A/G] NM_031953 SNX25 Silent rs3112898 4 186142979 [T/C] NM_031953 SNX25 Silent rs7675903 4 186159445 [A/C] NM_031953 SNX25 Silent rs3108227 4 186178278 [T/G] NM_031953 SNX25 Silent exm436976 4 186180187 [T/C] NM_031953 SNX25 EXON Missense_H70Y exm436978 4 186185593 [T/C] NM_031953 SNX25 EXON Missense_H81Y exm436985 4 186185731 [T/C] NM_031953 SNX25 EXON Missense_R127C rs3108224 4 186196453 [A/G] NM_031953 SNX25 Silent rs2692596 4 186204090 [T/C] NM_031953 SNX25 Silent var_4_186209165 4 186209165 [A/G] NM_031953 SNX25 Silent rs1288547 4 186216136 [A/G] NM_031953 SNX25 Silent exm437005 4 186231836 [A/G] NM_031953 SNX25 EXON Missense_M240V exm2071008 4 186241915 [A/G] NM_031953 SNX25 EXON Missense_N294S newrs145824512 4 186241985 [A/G] NM_031953 SNX25 EXON Nonsense_W317X exm437015 4 186241986 [A/G] NM_031953 SNX25 EXON Missense_E318K rs10000719 4 186242233 [T/C] NM_031953 SNX25 Silent exm437023 4 186244872 [T/C] NM_031953 SNX25 EXON Missense_I392T exm437024 4 186244923 [A/C] NM_031953 SNX25 EXON Missense_A409D exm437040 4 186263196 [A/G] NM_031953 SNX25 EXON Missense_G541R exm2071019 4 186263218 [T/C] NM_031953 SNX25 EXON Missense_T548M exm437046 4 186267751 [A/G] NM_031953 SNX25 EXON Missense_I586V exm437050 4 186272616 [A/C] NM_031953 SNX25 EXON Missense_E609D exm437056 4 186272714 [T/C] NM_031953 SNX25 EXON Missense_L642S exm437062 4 186274646 [G/C] NM_031953 SNX25 EXON Missense_T661R exm437067 4 186274751 [A/G] NM_031953 SNX25 EXON Missense_R696Q rs1031128 4 186281755 [T/C] NM_031953 SNX25 Silent exm437069 4 186283092 [T/C] NM_031953 SNX25 EXON Missense_T725I exm437072 4 186283137 [A/G] NM_031953 SNX25 EXON Missense_N740S exm437074 4 186283185 [T/C] NM_031953 SNX25 EXON Missense_T756I exm437075 4 186283193 [A/G] NM_031953 SNX25 EXON Missense_R759G rs7664573 4 186288846 [T/G] NM_018409 LRP2BP Silent exm437090 4 186294065 [T/C] NM_018409 LRP2BP EXON Missense_V250M exm437091 4 186294074 [T/C] NM_018409 LRP2BP EXON Missense_G247R exm437096 4 186294143 [A/G] NM_018409 LRP2BP EXON Missense_R224W rs3797026 4 186294198 [T/C] NM_018409 LRP2BP EXON Synonymous_G205G variant.83667 4 186295495 [A/G] NM_018409 LRP2BP EXON Nonsense_R151X exm2071049 4 186295495 [A/G] NM_018409 LRP2BP EXON Nonsense_R151X exm437116 4 186298086 [A/G] NM_018409 LRP2BP EXON Nonsense_R65X indel.83670 4 186298106 [I/D] NM_018409 LRP2BP EXON rs10018215 4 186302406 [T/G] rs4862524 4 186316829 [A/G] exm2071055 4 186318347 [A/G] NM_181726 ANKRD37 EXON Missense_N24S exm437136 4 186318377 [T/C] NM_181726 ANKRD37 EXON Missense_P34L exm437137 4 186318394 [A/G] NM_181726 ANKRD37 EXON Missense_G40R exm437138 4 186318406 [A/G] NM_181726 ANKRD37 EXON Missense_A44T exm437152 4 186320857 [T/C] NM_181726,NR_028085,NM_018359 ANKRD37,UFSP2,UFSP2 EXON Missense_C136R,Silent,Silent exm437156 4 186320890 [A/G] NM_181726,NR_028085,NM_018359 ANKRD37,UFSP2,UFSP2 EXON Missense_G147R,Silent,Silent exm437157 4 186320906 [C/G] NM_181726,NR_028085,NM_018359 ANKRD37,UFSP2,UFSP2 EXON Missense_T152S,Silent,Silent indel.83675 4 186320928 [I/D] NM_181726,NR_028085,NM_018359 ANKRD37,UFSP2,UFSP2 EXON variant.83676 4 186320932 [A/G] NM_181726,NR_028085,NM_018359 ANKRD37,UFSP2,UFSP2 EXON Silent,Silent,Silent rs1443903 4 186322002 [T/G] NR_028085,NM_018359 UFSP2,UFSP2 Silent,Silent newrs144368250 4 186326961 [A/G] NR_028085,NM_018359 UFSP2,UFSP2 EXON Silent,Nonsense_Q391X newrs150505755 4 186329171 [T/G] NR_028085,NM_018359 UFSP2,UFSP2 EXON Silent,Nonsense_S347X exm437189 4 186329175 [T/C] NR_028085,NM_018359 UFSP2,UFSP2 EXON Silent,Missense_G346R exm437195 4 186329489 [G/C] NR_028085,NM_018359 UFSP2,UFSP2 EXON Silent,Missense_C311S newrs144106328 4 186329508 [A/G] NR_028085,NM_018359 UFSP2,UFSP2 EXON Silent,Nonsense_R305X exm2071080 4 186335007 [T/C] NR_028085,NM_018359 UFSP2,UFSP2 EXON Silent,Missense_N235S exm437220 4 186339620 [T/C] NR_028085,NM_018359 UFSP2,UFSP2 EXON Silent,Missense_K103R exm437226 4 186339821 [T/C] NR_028085,NM_018359 UFSP2,UFSP2 EXON Silent,Missense_I62M indel.83682 4 186339896 [I/D] NR_028085,NM_018359 UFSP2,UFSP2 EXON indel.83683 4 186339914 [D/I] NR_028085,NM_018359 UFSP2,UFSP2 EXON var_4_186343634 4 186343634 [T/C] NR_028085,NM_018359 UFSP2,UFSP2 Silent,Silent rs11934546 4 186351612 [T/C] NM_001114357 C4orf47 Silent exm437241 4 186353135 [T/G] NM_001114357 C4orf47 Silent indel.83686 4 186353305 [I/D] NM_001114357 C4orf47 EXON exm437247 4 186353337 [A/G] NM_001114357 C4orf47 EXON Missense_S101N rs7672394 4 186353670 [T/G] NM_001114357 C4orf47 Silent exm437251 4 186357255 [A/G] NM_001114357 C4orf47 EXON Missense_A126T variant.83687 4 186357270 [T/C] NM_001114357 C4orf47 EXON Nonsense_R131X variant.83688 4 186357518 [A/G] NM_001114357 C4orf47 Silent rs7697970 4 186357523 [C/G] NM_001114357 C4orf47 Silent rs12650364 4 186365998 [A/G] NM_001114357 C4orf47 Silent newrs35715260 4 186366178 [D/I] NM_001114357 C4orf47 EXON exm437263 4 186366181 [A/G] NM_001114357 C4orf47 EXON Missense_A260T exm437265 4 186366256 [A/G] NM_001114357 C4orf47 EXON Missense_E285K rs13102235 4 186373316 [A/G] NM_001145411,NM_152775 CCDC110,CCDC110 Silent,Silent rs4279261 4 186378790 [T/C] NM_001145411,NM_152775 CCDC110,CCDC110 Silent,Silent variant.83691 4 186379275 [T/C] NM_001145411,NM_152775 CCDC110,CCDC110 Silent,Silent variant.83692 4 186379278 [A/C] NM_001145411,NM_152775 CCDC110,CCDC110 Silent,Silent exm437276 4 186379286 [T/A] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_L782M,Missense_L819M exm437277 4 186379291 [A/G] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_S780L,Missense_S817L exm437278 4 186379295 [G/C] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_A779P,Missense_A816P indel.83693 4 186379296 [I/D] NM_001145411,NM_152775 CCDC110,CCDC110 EXON exm437279 4 186379328 [T/C] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_E768K,Missense_E805K exm437288 4 186379567 [T/C] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_H688R,Missense_H725R exm437290 4 186379618 [A/G] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_V671A,Missense_V708A exm437293 4 186379735 [T/C] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_Q632R,Missense_Q669R indel.83695 4 186379774 [D/I] NM_001145411,NM_152775 CCDC110,CCDC110 EXON exm437301 4 186379899 [G/C] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_I577M,Missense_I614M exm437302 4 186379955 [T/G] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_L559I,Missense_L596I exm437305 4 186380129 [A/G] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Nonsense_Q501X,Nonsense_Q538X exm437309 4 186380243 [A/C] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_Y463D,Missense_Y500D exm437313 4 186380315 [A/C] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_Y439D,Missense_Y476D exm437314 4 186380333 [T/C] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_I433V,Missense_I470V exm437316 4 186380426 [T/C] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_V402M,Missense_V439M exm437317 4 186380455 [T/G] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_Q392P,Missense_Q429P exm437318 4 186380477 [T/C] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_E385K,Missense_E422K exm437321 4 186380515 [A/G] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_S372F,Missense_S409F indel.83703 4 186380550 [I/D] NM_001145411,NM_152775 CCDC110,CCDC110 EXON exm437324 4 186380597 [T/G] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_L345M,Missense_L382M exm437326 4 186380617 [A/G] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_S338F,Missense_S375F exm437334 4 186380822 [T/C] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_I270V,Missense_I307V exm437335 4 186380846 [A/T] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_L262M,Missense_L299M exm437337 4 186380893 [A/G] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_M246T,Missense_M283T exm437343 4 186381043 [T/C] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_G196E,Missense_G233E rs7699687 4 186381115 [T/G] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_P172Q,Missense_P209Q exm437347 4 186381115 [T/G] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_P172Q,Missense_P209Q exm437355 4 186381338 [T/C] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_D98N,Missense_D135N exm437356 4 186381382 [T/C] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_N83S,Missense_N120S exm437357 4 186381392 [C/G] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_P80A,Missense_P117A exm437360 4 186382219 [T/C] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Silent,Missense_R111H exm437362 4 186382253 [A/G] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Silent,Missense_F100L rs4862534 4 186383240 [T/G] NM_001145411,NM_152775 CCDC110,CCDC110 Silent,Silent exm437367 4 186383820 [C/G] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_Q72E,Missense_Q72E exm437372 4 186384203 [T/G] NM_001145411,NM_152775 CCDC110,CCDC110 EXON Missense_E39A,Missense_E39A rs6857096 4 186388073 [A/G] NM_001145411,NM_152775 CCDC110,CCDC110 Silent,Silent rs9998424 4 186390753 [A/G] NM_001145411,NM_152775 CCDC110,CCDC110 Silent,Silent indel.83705 4 186392116 [I/D] NM_001145411,NM_152775 CCDC110,CCDC110 EXON rs4862535 4 186397351 [A/C] exm437393 4 186423637 [A/G] NM_001257962,NM_014476,NR_047562,NM_001257963,NM_001114107 PDLIM3,PDLIM3,PDLIM3,PDLIM3,PDLIM3 EXON Synonymous_V214V,Synonymous_V302V,Silent,Synonymous_V135V,Synonymous_V254V rs4635850 4 186423637 [A/G] NM_001257962,NM_014476,NR_047562,NM_001257963,NM_001114107 PDLIM3,PDLIM3,PDLIM3,PDLIM3,PDLIM3 EXON Synonymous_V214V,Synonymous_V302V,Silent,Synonymous_V135V,Synonymous_V254V exm437406 4 186427735 [A/G] NM_001257962,NM_014476,NR_047562,NM_001257963,NM_001114107 PDLIM3,PDLIM3,PDLIM3,PDLIM3,PDLIM3 EXON Missense_T157I,Missense_T245I,Silent,Missense_T78I,Missense_T197I exm437409 4 186427754 [T/C] NM_001257962,NM_014476,NR_047562,NM_001257963,NM_001114107 PDLIM3,PDLIM3,PDLIM3,PDLIM3,PDLIM3 EXON Missense_D151N,Missense_D239N,Silent,Missense_D72N,Missense_D191N exm437410 4 186427772 [C/G] NM_001257962,NM_014476,NR_047562,NM_001257963,NM_001114107 PDLIM3,PDLIM3,PDLIM3,PDLIM3,PDLIM3 EXON Missense_V145L,Missense_V233L,Silent,Missense_V66L,Missense_V185L exm437435 4 186444600 [T/C] NM_001257962,NM_014476,NR_047562,NM_001257963,NM_001114107 PDLIM3,PDLIM3,PDLIM3,PDLIM3,PDLIM3 EXON Synonymous_R82R,Synonymous_R82R,Silent,Silent,Synonymous_R82R exm2256525 4 186446224 [T/C] NM_001257962,NM_014476,NR_047562,NM_001257963,NM_001114107 PDLIM3,PDLIM3,PDLIM3,PDLIM3,PDLIM3 EXON Synonymous_A65A,Synonymous_A65A,Silent,Silent,Synonymous_A65A exm437438 4 186446250 [T/C] NM_001257962,NM_014476,NR_047562,NM_001257963,NM_001114107 PDLIM3,PDLIM3,PDLIM3,PDLIM3,PDLIM3 EXON Missense_T57A,Missense_T57A,Silent,Silent,Missense_T57A exm437446 4 186456560 [A/G] NM_001257962,NM_014476,NR_047562,NM_001257963,NM_001114107 PDLIM3,PDLIM3,PDLIM3,PDLIM3,PDLIM3 EXON Missense_P10L,Missense_P10L,Silent,Missense_P10L,Missense_P10L rs2310322 4 186467147 [A/G] rs7680845 4 186467810 [A/G] rs1158465 4 186469493 [A/G] rs931305 4 186474700 [A/G] rs11935679 4 186483220 [A/G] rs11132328 4 186485293 [A/G] rs10866278 4 186499546 [T/C] rs13123635 4 186504441 [A/G] exm437454 4 186508808 [T/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_F658L,Missense_F1192L,Missense_F1092L,Missense_F816L,Missense_F723L,Missense_F484L,Missense_F996L,Missense_F653L,Missense_F636L exm2240771 4 186510931 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_A614V,Missense_A1148V,Missense_A1048V,Missense_A772V,Missense_A679V,Missense_A440V,Missense_A952V,Missense_A609V,Missense_A592V exm2275782 4 186515050 [A/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_G608W,Missense_G1142W,Missense_G1042W,Missense_G766W,Missense_G673W,Missense_G434W,Missense_G946W,Missense_G603W,Missense_G586W rs10012577 4 186522043 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs13144963 4 186528433 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm437467 4 186532960 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_R586G,Missense_R1120G,Missense_R1020G,Missense_R744G,Missense_R651G,Missense_R412G,Missense_R924G,Missense_R581G,Missense_R564G exm437468 4 186532996 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_P574S,Missense_P1108S,Missense_P1008S,Missense_P732S,Missense_P639S,Missense_P400S,Missense_P912S,Missense_P569S,Missense_P552S rs12502295 4 186535247 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10026821 4 186540503 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm437485 4 186541260 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_G416E,Missense_G950E,Missense_G850E,Missense_G574E,Missense_G481E,Missense_G242E,Missense_G754E,Missense_G411E,Missense_G394E exm437488 4 186541301 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Synonymous_R402R,Synonymous_R936R,Synonymous_R836R,Synonymous_R560R,Synonymous_R467R,Synonymous_R228R,Synonymous_R740R,Synonymous_R397R,Synonymous_R380R exm2256526 4 186541301 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Synonymous_R402R,Synonymous_R936R,Synonymous_R836R,Synonymous_R560R,Synonymous_R467R,Synonymous_R228R,Synonymous_R740R,Synonymous_R397R,Synonymous_R380R rs13435845 4 186542593 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm437494 4 186544194 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Missense_D893N,Missense_D793N,Silent,Silent,Silent,Missense_D697N,Silent,Silent exm437498 4 186544311 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Missense_N854D,Missense_N754D,Silent,Silent,Silent,Missense_N658D,Silent,Silent exm2275783 4 186544654 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Synonymous_S739S,Synonymous_S639S,Silent,Silent,Silent,Synonymous_S543S,Silent,Silent exm437513 4 186544768 [T/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Missense_D701E,Missense_D601E,Silent,Silent,Silent,Missense_D505E,Silent,Silent exm437518 4 186544880 [C/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Missense_P664R,Missense_P564R,Silent,Silent,Silent,Missense_P468R,Silent,Silent exm2256527 4 186544972 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Synonymous_P633P,Synonymous_P533P,Silent,Silent,Silent,Synonymous_P437P,Silent,Silent exm437529 4 186544981 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Missense_M630I,Missense_M530I,Silent,Silent,Silent,Missense_M434I,Silent,Silent exm2071168 4 186545106 [T/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Missense_L589M,Missense_L489M,Silent,Silent,Silent,Missense_L393M,Silent,Silent exm2071171 4 186545283 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Missense_V530I,Missense_V430I,Silent,Silent,Silent,Missense_V334I,Silent,Silent variant.83710 4 186545484 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Silent,Nonsense_Q463X,Nonsense_Q363X,Silent,Silent,Silent,Nonsense_Q267X,Silent,Silent exm2071177 4 186548084 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_S368N,Missense_S375N,Missense_S275N,Missense_S526N,Missense_S433N,Missense_S194N,Missense_S179N,Missense_S363N,Missense_S346N rs10006389 4 186550283 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1471795 4 186555742 [T/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2306707 4 186559109 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent var_4_186559271 4 186559272 [D/I] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON rs4862556 4 186563188 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm437567 4 186567935 [T/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_H237N,Missense_H291N,Missense_H191N,Missense_H370N,Missense_H277N,Missense_H110N,Missense_H95N,Missense_H260N,Missense_H262N rs7663196 4 186570521 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm437579 4 186572981 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Synonymous_D158D,Synonymous_D212D,Synonymous_D112D,Synonymous_D291D,Synonymous_D198D,Synonymous_D31D,Silent,Synonymous_D181D,Silent exm437581 4 186573817 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145675,NM_001145674,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Synonymous_P157P,Synonymous_P211P,Synonymous_P111P,Synonymous_P290P,Synonymous_P197P,Synonymous_P30P,Synonymous_P30P,Synonymous_P180P,Synonymous_P197P exm437601 4 186583323 [T/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_P56H,Missense_P110H,Missense_P10H,Missense_P189H,Missense_P96H,Missense_P79H,Missense_P96H exm437602 4 186583330 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_F54L,Missense_F108L,Missense_F8L,Missense_F187L,Missense_F94L,Missense_F77L,Missense_F94L exm437606 4 186583365 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 EXON Missense_G42D,Missense_G96D,Silent,Missense_G175D,Missense_G82D,Missense_G65D,Missense_G82D rs4862559 4 186593672 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4862562 4 186602210 [A/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7653904 4 186607977 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs13150700 4 186610123 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6823546 4 186611663 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4376189 4 186612675 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12512174 4 186612732 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7687550 4 186615022 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12507995 4 186616234 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs5018568 4 186617593 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs955264 4 186618175 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs955263 4 186618304 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs904451 4 186630946 [A/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2256528 4 186631388 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6825114 4 186636564 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11132340 4 186638655 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs13131324 4 186641213 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10017683 4 186641563 [T/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11736488 4 186642895 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1027521 4 186661203 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs904448 4 186663425 [A/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7679506 4 186664542 [T/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2173479 4 186671479 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12503317 4 186671599 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10027307 4 186674804 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4543173 4 186677253 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145673,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6858040 4 186710312 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent rs13126725 4 186717589 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent rs4861680 4 186721885 [A/G] NM_003603,NM_001270771,NM_021069,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent rs11132350 4 186725449 [T/G] NM_003603,NM_001270771,NM_021069,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent rs878357 4 186730448 [T/C] NM_003603,NM_001270771,NM_021069,NM_001145671,NM_001145672,NM_001145670 SORBS2,SORBS2,SORBS2,SORBS2,SORBS2,SORBS2 Silent,Silent,Silent,Silent,Silent,Silent rs6858186 4 186734480 [A/G] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs12502302 4 186735780 [T/C] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs1039238 4 186746956 [T/C] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs13111004 4 186751133 [T/C] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs9994285 4 186758065 [T/C] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs11724690 4 186764747 [T/G] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs6552928 4 186769051 [T/C] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs10020233 4 186782009 [A/G] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs2648117 4 186787096 [T/C] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs4862580 4 186793887 [A/G] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs7679935 4 186796587 [T/C] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs11721899 4 186799239 [T/G] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs4862585 4 186809714 [T/C] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs4862586 4 186809838 [A/G] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs7693781 4 186821893 [A/G] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs6819746 4 186832817 [T/C] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs12641600 4 186839888 [T/C] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs7656290 4 186840968 [T/C] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs13140248 4 186842789 [A/G] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs7687824 4 186851062 [A/G] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs6552938 4 186855364 [A/G] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs1031505 4 186873844 [A/C] NM_001270771,NM_021069 SORBS2,SORBS2 Silent,Silent rs959622 4 186881570 [A/C] rs7694098 4 186881988 [T/G] rs1454746 4 186884336 [A/G] rs830829 4 186893350 [T/G] rs7676342 4 186901587 [A/G] rs4862611 4 186902860 [T/C] rs830838 4 186913109 [T/C] rs7681323 4 186915297 [A/G] rs6852642 4 186917039 [A/G] rs830841 4 186917269 [T/C] rs7679967 4 186935500 [T/C] rs1401573 4 186943462 [T/C] rs6814242 4 186959365 [A/G] exm2265809 4 186959365 [A/G] rs9996894 4 186961015 [T/C] rs7691384 4 186972741 [T/C] rs7678294 4 186979699 [A/G] rs11721827 4 186991137 [A/C] NM_003265 TLR3 Silent rs7657186 4 186994039 [A/G] NM_003265 TLR3 Silent rs13126816 4 186994178 [A/G] NM_003265 TLR3 Silent exm437624 4 186997767 [A/C] NM_003265 TLR3 EXON Silent rs3775296 4 186997767 [A/C] NM_003265 TLR3 EXON Silent variant.83716 4 186997805 [A/G] NM_003265 TLR3 EXON Nonsense_W11X exm2071205 4 186997807 [C/G] NM_003265 TLR3 EXON Missense_G12R var_4_186997884 4 186997884 [A/C] NM_003265 TLR3 EXON Nonsense_C37X exm437633 4 186997949 [A/C] NM_003265 TLR3 EXON Missense_T59N exm437646 4 187000029 [T/G] NM_003265 TLR3 EXON Missense_L159F exm437649 4 187000106 [T/C] NM_003265 TLR3 EXON Missense_A185V exm437659 4 187003678 [A/G] NM_003265 TLR3 EXON Missense_D280N exm437662 4 187003729 [G/C] NM_003265 TLR3 EXON Missense_L297V exm437664 4 187003759 [T/G] NM_003265 TLR3 EXON Missense_Y307D exm2275784 4 187003797 [A/C] NM_003265 TLR3 EXON Missense_H319Q exm437671 4 187004021 [A/G] NM_003265 TLR3 EXON Missense_R394Q rs3775291 4 187004074 [T/C] NM_003265 TLR3 EXON Missense_L412F exm437672 4 187004074 [T/C] NM_003265 TLR3 EXON Missense_L412F exm437674 4 187004135 [A/G] NM_003265 TLR3 EXON Missense_H432R exm2277278 4 187004217 [A/C] NM_003265 TLR3 EXON Missense_F459L 1KG_4_187004230 4 187004230 [D/I] NM_003265 TLR3 EXON var_4_187004347 4 187004347 [T/C] NM_003265 TLR3 EXON Nonsense_Q503X exm437685 4 187004500 [T/C] NM_003265 TLR3 EXON Missense_P554S exm437700 4 187004767 [A/C] NM_003265 TLR3 EXON Missense_R643S exm437701 4 187004768 [A/G] NM_003265 TLR3 EXON Missense_R643H exm437709 4 187005049 [A/T] NM_003265 TLR3 EXON Missense_S737T exm437713 4 187005064 [T/C] NM_003265 TLR3 EXON Missense_L742F indel.83721 4 187005230 [I/D] NM_003265 TLR3 EXON exm437722 4 187005854 [A/C] NM_003265 TLR3 EXON Missense_I848L variant.83722 4 187005911 [T/C] NM_003265 TLR3 EXON Nonsense_R867X exm437727 4 187005912 [A/G] NM_003265 TLR3 EXON Missense_R867Q rs10025405 4 187006806 [A/G] rs4862633 4 187009972 [T/C] rs6857595 4 187011126 [T/C] rs1519309 4 187015089 [T/C] rs9312342 4 187021315 [T/C] rs7665411 4 187042798 [T/G] rs10030678 4 187043908 [A/G] rs9998530 4 187047812 [A/G] rs7656677 4 187054136 [T/C] rs13105400 4 187059563 [T/G] rs7660462 4 187059719 [T/C] rs7684126 4 187072383 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A Silent,Silent exm437744 4 187074833 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_K41E,Missense_K41E exm437751 4 187075633 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_S75F,Missense_S75F exm437756 4 187075701 [T/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_A98S,Missense_A98S exm2256529 4 187075751 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Synonymous_D114D,Synonymous_D114D rs4862652 4 187076793 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A Silent,Silent exm437762 4 187077200 [A/T] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_W144R,Missense_W144R exm437763 4 187077203 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R145C,Missense_R145C exm437764 4 187077204 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R145H,Missense_R145H exm437766 4 187077206 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_K146E,Missense_K146E exm437771 4 187077234 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R155H,Missense_R155H exm437775 4 187077278 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_V170I,Missense_V170I exm437776 4 187077291 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_M174T,Missense_M174T exm437779 4 187078745 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_K201E,Missense_K201E exm437780 4 187078749 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_V202A,Missense_V202A exm437786 4 187078785 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_H214R,Missense_H214R rs1877321 4 187079017 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A Silent,Silent exm437802 4 187084023 [T/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_Y252D,Missense_Y252D exm437803 4 187084086 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_F273L,Missense_F273L exm437812 4 187084634 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_P297L,Missense_P297L exm437814 4 187084649 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R302Q,Missense_R302Q exm437816 4 187084729 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_S329P,Missense_S329P exm437817 4 187084737 [A/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R331S,Missense_R331S exm437818 4 187084751 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_N336S,Missense_N336S exm437819 4 187084753 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_I337V,Missense_I337V exm437822 4 187084765 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_E341K,Missense_E341K exm2071259 4 187086544 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R364W,Missense_R364W exm437832 4 187086562 [A/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_L370I,Missense_L370I exm437836 4 187086607 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R385C,Missense_R385C exm437837 4 187086608 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R385H,Missense_R385H exm437839 4 187088147 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R397H,Missense_R397H exm437840 4 187088170 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_G405S,Missense_G405S variant.83725 4 187088179 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Nonsense_R408X,Nonsense_R408X exm2274059 4 187088183 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_S409L,Missense_S409L exm437842 4 187088215 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R420W,Missense_R420W exm437844 4 187088242 [A/T] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_T429S,Missense_T429S exm437846 4 187088248 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_R431W,Missense_R431W exm437852 4 187088399 [T/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_G453V,Missense_G453V exm437853 4 187088410 [T/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_L457V,Missense_L457V exm2261680 4 187091644 [A/C] NM_015398,NM_001006655 FAM149A,FAM149A Silent,Silent exm437857 4 187093124 [T/C] NM_015398,NM_001006655 FAM149A,FAM149A EXON Missense_F478L,Missense_F478L variant.83728 4 187093164 [A/G] NM_015398,NM_001006655 FAM149A,FAM149A EXON Silent,Silent rs6816903 4 187100384 [T/C] exm437864 4 187113041 [G/C] NM_207352 CYP4V2 EXON Missense_L22V rs10866290 4 187114479 [T/C] NM_207352 CYP4V2 Silent indel.83733 4 187115727 [D/I] NM_207352 CYP4V2 EXON rs7684025 4 187116227 [A/G] NM_207352 CYP4V2 Silent exm437879 4 187117196 [A/G] NM_207352 CYP4V2 EXON Missense_M123V exm437880 4 187117229 [T/G] NM_207352 CYP4V2 EXON Nonsense_G134X var_4_187117229 4 187117229 [T/G] NM_207352 CYP4V2 EXON Nonsense_G134X variant.83737 4 187118093 [A/G] NM_207352 CYP4V2 Silent exm437888 4 187118221 [A/G] NM_207352 CYP4V2 EXON Missense_I181V rs4862662 4 187118662 [T/G] NM_207352 CYP4V2 Silent exm437895 4 187118692 [A/G] NM_207352 CYP4V2 EXON Missense_A204T exm437896 4 187118720 [A/G] NM_207352 CYP4V2 EXON Missense_S213N variant.83739 4 187120130 [T/C] NM_207352 CYP4V2 EXON Nonsense_R232X exm437900 4 187120211 [A/C] NM_207352 CYP4V2 EXON Missense_Q259K var_4_187120238 4 187120238 [A/G] NM_207352 CYP4V2 Silent rs7687961 4 187122009 [A/C] NM_207352 CYP4V2 Silent exm-rs3736455 4 187122319 [T/G] NM_207352 CYP4V2 EXON Synonymous_A270A rs3736455 4 187122319 [T/G] NM_207352 CYP4V2 EXON Synonymous_A270A exm437905 4 187122332 [A/G] NM_207352 CYP4V2 EXON Missense_E275K exm437909 4 187122411 [A/C] NM_207352 CYP4V2 EXON Missense_D301A variant.83742 4 187126358 [A/C] NM_207352 CYP4V2 EXON Missense_H331P variant.83743 4 187126386 [A/G] NM_207352 CYP4V2 EXON Nonsense_W340X rs10029149 4 187126449 [T/C] NM_207352 CYP4V2 EXON Synonymous_D361D rs1473597 4 187127817 [A/G] NM_207352 CYP4V2 Silent indel.83745 4 187130023 [D/I] NM_207352 CYP4V2 EXON exm437918 4 187130031 [A/G] NM_207352 CYP4V2 EXON Missense_R368H exm437919 4 187130042 [A/G] NM_207352 CYP4V2 EXON Missense_V372I variant.83746 4 187130096 [T/C] NM_207352 CYP4V2 EXON Missense_R390C exm437921 4 187130112 [T/C] NM_207352 CYP4V2 EXON Missense_V395A exm437933 4 187130349 [A/G] NM_207352 CYP4V2 EXON Missense_R443Q exm437935 4 187130360 [A/G] NM_207352 CYP4V2 EXON Missense_E447K exm437939 4 187130406 [T/C] NM_207352 CYP4V2 EXON Missense_A462V newrs119103284 4 187131740 [A/G] NM_207352 CYP4V2 EXON Missense_R508H rs4253236 4 187148071 [T/C] rs4253239 4 187148475 [T/C] rs1912826 4 187149540 [A/G] NM_000892 KLKB1 Silent rs4241816 4 187152327 [A/T] NM_000892 KLKB1 Silent exm437954 4 187153290 [T/C] NM_000892 KLKB1 EXON Missense_T23I exm437956 4 187153432 [A/C] NM_000892 KLKB1 EXON Missense_D70E rs4253252 4 187157458 [T/G] NM_000892 KLKB1 Silent exm437961 4 187157943 [T/C] NM_000892 KLKB1 EXON Nonsense_R113X indel.83755 4 187157967 [D/I] NM_000892 KLKB1 EXON newrs143821671 4 187158012 [T/G] NM_000892 KLKB1 EXON Nonsense_E136X exm437968 4 187158034 [A/G] NM_000892 KLKB1 EXON Missense_S143N variant.83758 4 187158069 [T/C] NM_000892 KLKB1 EXON Nonsense_Q155X variant.83759 4 187158094 [A/G] NM_000892 KLKB1 EXON Missense_R163Q exm437975 4 187159453 [A/G] NM_000892 KLKB1 EXON Missense_A178T exm437979 4 187171404 [A/C] NM_000892 KLKB1 EXON Missense_H202Q exm2071318 4 187171405 [A/G] NM_000892 KLKB1 EXON Missense_M203V exm437980 4 187171421 [A/C] NM_000892 KLKB1 EXON Missense_H208P exm437981 4 187171427 [A/C] NM_000892 KLKB1 EXON Missense_A210E exm437985 4 187171487 [A/T] NM_000892 KLKB1 EXON Missense_I230N variant.83760 4 187171546 [T/G] NM_000892 KLKB1 EXON Nonsense_E250X variant.83761 4 187171558 [T/C] NM_000892 KLKB1 Silent variant.83762 4 187172372 [A/G] NM_000892 KLKB1 Silent exm437995 4 187172386 [T/C] NM_000892 KLKB1 EXON Missense_L258F exm437997 4 187172420 [G/C] NM_000892 KLKB1 EXON Missense_S269C exm437998 4 187172422 [A/G] NM_000892 KLKB1 EXON Missense_T270A exm438002 4 187172665 [T/C] NM_000892 KLKB1 EXON Missense_P298L exm438003 4 187172703 [T/G] NM_000892 KLKB1 EXON Missense_F311V exm438006 4 187172728 [A/G] NM_000892 KLKB1 EXON Missense_Q319R exm438009 4 187172787 [A/G] NM_000892 KLKB1 EXON Missense_D339N exm438011 4 187172931 [A/G] NM_000892 KLKB1 EXON Missense_D354N exm438012 4 187172943 [A/G] NM_000892 KLKB1 EXON Missense_T358A exm438018 4 187173012 [T/G] NM_000892 KLKB1 EXON Missense_S381A indel.83763 4 187173220 [I/D] NM_000892 KLKB1 EXON rs4253308 4 187174363 [A/C] NM_000892 KLKB1 Silent exm438028 4 187175753 [A/C] NM_000892 KLKB1 EXON Missense_Q442P exm438031 4 187175771 [A/G] NM_000892 KLKB1 EXON Missense_Y448C exm438042 4 187177217 [A/G] NM_000892 KLKB1 EXON Missense_G521R exm438043 4 187177230 [T/C] NM_000892 KLKB1 EXON Missense_S525L exm438046 4 187178437 [A/G] NM_000892 KLKB1 EXON Missense_C548Y rs4253325 4 187178473 [A/G] NM_000892 KLKB1 EXON Missense_R560Q exm438048 4 187178473 [A/G] NM_000892 KLKB1 EXON Missense_R560Q exm438050 4 187178478 [A/G] NM_000892 KLKB1 EXON Missense_V562I variant.83766 4 187178524 [T/C] NM_000892 KLKB1 Silent rs925453 4 187179210 [T/C] NM_000892 KLKB1 EXON Synonymous_N587N exm438056 4 187179221 [A/G] NM_000892 KLKB1 EXON Missense_R591H exm438057 4 187179306 [G/C] NM_000892 KLKB1 EXON Missense_D619E var_4_187179309 4 187179309 [A/G] NM_000892 KLKB1 EXON Nonsense_W620X exm438060 4 187179320 [A/C] NM_000892 KLKB1 EXON Missense_K624T rs3756008 4 187185385 [A/T] rs925451 4 187187569 [A/G] NM_000128 F11 Silent rs2036914 4 187192481 [T/C] NM_000128 F11 Silent variant.83768 4 187192895 [T/C] NM_000128 F11 EXON Missense_A63V exm438075 4 187192903 [T/C] NM_000128 F11 EXON Missense_P66S newrs140190776 4 187194332 [A/G] NM_000128 F11 Silent variant.83771 4 187194336 [T/G] NM_000128 F11 Silent variant.83772 4 187195309 [A/G] NM_000128 F11 EXON Missense_G122D var_4_187195344 4 187195344 [T/C] NM_000128 F11 EXON Nonsense_Q134X exm438084 4 187195347 [T/G] NM_000128 F11 EXON Nonsense_E135X newrs143648758 4 187195352 [A/C] NM_000128 F11 EXON Nonsense_C136X variant.83776 4 187195366 [T/C] NM_000128 F11 EXON Missense_T141M exm438090 4 187195398 [A/G] NM_000128 F11 EXON Missense_A152T variant.83779 4 187195429 [A/G] NM_000128 F11 EXON Missense_R162H rs1593 4 187195551 [A/T] NM_000128 F11 Silent exm2071351 4 187196994 [A/G] NM_000128 F11 EXON Missense_K180R variant.83781 4 187197472 [A/G] NM_000128 F11 EXON Missense_R228Q variant.83784 4 187197527 [A/G] NM_000128 F11 EXON Nonsense_W246X variant.83785 4 187197540 [T/C] NM_000128 F11 EXON Nonsense_Q251X newrs145168351 4 187201207 [A/G] NM_000128 F11 EXON Missense_S266N exm438113 4 187201207 [A/G] NM_000128 F11 EXON Missense_S266N rs5974 4 187201211 [A/G] NM_000128 F11 EXON Synonymous_T267T exm438115 4 187201219 [A/T] NM_000128 F11 EXON Missense_K270I variant.83790 4 187201251 [T/C] NM_000128 F11 EXON Nonsense_Q281X exm438119 4 187201412 [T/C] NM_000128 F11 EXON Missense_F301L newrs121965064 4 187201412 [T/C] NM_000128 F11 EXON Missense_F301L variant.83793 4 187201476 [T/C] NM_000128 F11 EXON Missense_T322I exm438123 4 187201527 [T/G] NM_000128 F11 EXON Missense_C339F variant.83795 4 187201537 [T/G] NM_000128 F11 EXON Synonymous_G342G var_4_187201544 4 187201544 [A/G] NM_000128 F11 Silent newrs142096488 4 187201683 [A/G] NM_000128 F11 EXON Missense_G362R variant.83799 4 187201717 [T/C] NM_000128 F11 EXON Missense_L373S newrs116667976 4 187205426 [A/G] NM_000128 F11 Silent indel.83803 4 187206809 [I/D] NM_000128 F11 EXON variant.83804 4 187206814 [T/C] NM_000128 F11 EXON Missense_R443C var_4_187206972 4 187206972 [A/G] NM_000128 F11 Silent rs2289252 4 187207381 [T/C] NM_000128,NR_033900 F11,LOC285441 EXON Silent,Silent variant.83807 4 187207577 [T/C] NM_000128,NR_033900 F11,LOC285441 EXON Nonsense_R497X,Silent variant.83809 4 187207605 [A/G] NM_000128,NR_033900 F11,LOC285441 EXON Missense_D506G,Silent exm438155 4 187207613 [A/G] NM_000128,NR_033900 F11,LOC285441 EXON Missense_V509I,Silent variant.83810 4 187207634 [A/G] NM_000128,NR_033900 F11,LOC285441 EXON Missense_V516M,Silent variant.83811 4 187207644 [A/G] NM_000128,NR_033900 F11,LOC285441 EXON Nonsense_W519X,Silent newrs151121343 4 187208945 [A/G] NM_000128,NR_033900 F11,LOC285441 EXON Missense_G562S,Silent exm438178 4 187209733 [A/G] NM_000128,NR_033900 F11,LOC285441 EXON Missense_V615M,Silent exm438181 4 187209748 [G/C] NM_000128,NR_033900 F11,LOC285441 EXON Missense_E620Q,Silent rs4253429 4 187210033 [A/G] NM_000128,NR_033900 F11,LOC285441 EXON Silent,Silent rs4253865 4 187210090 [A/G] NM_000128,NR_033900 F11,LOC285441 EXON Silent,Silent rs1062547 4 187210247 [A/T] NM_000128,NR_033900 F11,LOC285441 EXON Silent,Silent rs11938564 4 187212134 [T/G] NR_033900 LOC285441 EXON Silent rs13136269 4 187217008 [T/C] NR_033900 LOC285441 Silent rs4572916 4 187223583 [A/C] NR_033900 LOC285441 Silent rs7700014 4 187241497 [T/C] NR_033900 LOC285441 Silent rs7349633 4 187247089 [T/G] NR_033900 LOC285441 Silent rs11132389 4 187251860 [A/G] NR_033900 LOC285441 Silent exm-rs13148903 4 187257576 [A/G] NR_033900 LOC285441 Silent rs4861710 4 187263675 [T/C] NR_033900 LOC285441 Silent rs7672650 4 187271047 [T/C] NR_033900 LOC285441 Silent rs11132390 4 187283915 [T/C] NR_033900 LOC285441 Silent rs1901314 4 187286307 [T/C] NR_033900 LOC285441 Silent rs1868893 4 187287475 [T/C] NR_033900 LOC285441 Silent rs10014510 4 187292020 [A/G] NR_033900 LOC285441 Silent rs9997314 4 187297232 [T/C] NR_033900 LOC285441 Silent rs6817039 4 187313377 [A/G] NR_033900 LOC285441 Silent rs12331403 4 187314751 [A/G] NR_033900 LOC285441 Silent rs2889188 4 187315811 [A/G] NR_033900 LOC285441 Silent rs2167370 4 187329245 [T/C] NR_033900 LOC285441 Silent rs11945366 4 187331659 [A/G] NR_033900 LOC285441 Silent rs11935103 4 187338335 [T/C] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs11931790 4 187340688 [T/C] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs2060767 4 187341533 [A/G] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs7669240 4 187347487 [T/C] NR_033900,NR_033901 LOC285441,LOC285441 EXON Silent,Silent rs4862695 4 187358040 [A/G] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs6844494 4 187361302 [T/C] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs969372 4 187365460 [A/C] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs1812785 4 187365581 [T/C] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs9999651 4 187366649 [T/C] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs7654929 4 187367442 [A/G] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs4862699 4 187368464 [A/G] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs2375775 4 187372264 [A/G] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs4241830 4 187375370 [A/G] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs7670038 4 187378007 [T/C] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs12506228 4 187382294 [A/C] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs10003777 4 187388958 [A/G] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs1901317 4 187390680 [A/G] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent exm2264080 4 187394590 [A/C] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs6830267 4 187403169 [T/C] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs10866292 4 187404608 [T/G] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs921453 4 187411802 [T/C] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs2375799 4 187414115 [T/C] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs6553000 4 187421850 [A/G] NR_033900,NR_033901 LOC285441,LOC285441 Silent,Silent rs11736645 4 187427709 [A/G] rs7440284 4 187449434 [T/C] exm438184 4 187454863 [T/C] NM_005958 MTNR1A EXON Missense_V345I exm438187 4 187454894 [T/A] NM_005958 MTNR1A EXON Missense_K334N exm438189 4 187454920 [T/C] NM_005958 MTNR1A EXON Missense_D326N indel.83819 4 187455024 [I/D] NM_005958 MTNR1A EXON 1KG_4_187455067 4 187455067 [D/I] NM_005958 MTNR1A EXON exm438196 4 187455099 [A/G] NM_005958 MTNR1A EXON Missense_A266V exm438197 4 187455100 [T/C] NM_005958 MTNR1A EXON Missense_A266T exm438206 4 187455261 [A/G] NM_005958 MTNR1A EXON Missense_I212T exm438215 4 187455399 [T/C] NM_005958 MTNR1A EXON Missense_G166E exm2240784 4 187455426 [A/G] NM_005958 MTNR1A EXON Missense_A157V exm438222 4 187455504 [T/C] NM_005958 MTNR1A EXON Missense_H131R exm438225 4 187455538 [T/C] NM_005958 MTNR1A EXON Missense_G120S exm438229 4 187455609 [T/C] NM_005958 MTNR1A EXON Missense_G96D rs11943499 4 187460652 [T/C] NM_005958 MTNR1A Silent rs2165666 4 187461706 [A/G] NM_005958 MTNR1A Silent rs13113549 4 187465991 [A/G] NM_005958 MTNR1A Silent exm438239 4 187476360 [A/G] NM_005958 MTNR1A EXON Missense_R54W exm438240 4 187476365 [A/G] NM_005958 MTNR1A EXON Missense_V52A rs7687823 4 187482867 [A/G] rs13131052 4 187485933 [T/G] rs6850080 4 187490395 [T/C] rs10001487 4 187508057 [A/G] rs7675885 4 187509321 [A/C] NM_005245 FAT1 EXON Silent exm438248 4 187509760 [A/G] NM_005245 FAT1 EXON Missense_H4585Y exm438249 4 187509786 [A/G] NM_005245 FAT1 EXON Missense_T4576M exm438258 4 187509931 [T/C] NM_005245 FAT1 EXON Missense_E4528K exm438262 4 187510008 [T/C] NM_005245 FAT1 EXON Missense_Q4502R exm438264 4 187510037 [A/C] NM_005245 FAT1 EXON Missense_N4492K exm438267 4 187510072 [A/G] NM_005245 FAT1 EXON Missense_R4481W exm438277 4 187510258 [T/C] NM_005245 FAT1 EXON Missense_A4419T rs3775307 4 187510280 [A/G] NM_005245 FAT1 EXON Synonymous_P4411P exm438283 4 187510339 [T/C] NM_005245 FAT1 EXON Missense_V4392I rs3775309 4 187513585 [T/G] NM_005245 FAT1 Silent exm438295 4 187516939 [T/G] NM_005245 FAT1 EXON Missense_L4348I exm438299 4 187517847 [T/C] NM_005245 FAT1 EXON Missense_E4283K variant.83821 4 187517871 [A/C] NM_005245 FAT1 EXON Nonsense_G4275X variant.83822 4 187517886 [A/G] NM_005245 FAT1 EXON Nonsense_R4270X exm438305 4 187518024 [T/C] NM_005245 FAT1 EXON Missense_A4224T exm438306 4 187518041 [T/C] NM_005245 FAT1 EXON Missense_D4218G exm438308 4 187518072 [A/G] NM_005245 FAT1 EXON Missense_R4208W exm438311 4 187518138 [T/C] NM_005245 FAT1 EXON Missense_V4186I exm438317 4 187518228 [T/C] NM_005245 FAT1 EXON Missense_E4156K exm438327 4 187518916 [T/G] NM_005245 FAT1 EXON Missense_E4096D exm438335 4 187519175 [T/C] NM_005245 FAT1 EXON Missense_D4070N exm438338 4 187519206 [G/C] NM_005245 FAT1 EXON Missense_K4059N exm438340 4 187519226 [T/C] NM_005245 FAT1 EXON Missense_V4053I 1KG_4_187519247 4 187519247 [I/D] NM_005245 FAT1 EXON rs10009030 4 187521037 [A/C] NM_005245 FAT1 Silent exm2071430 4 187521158 [A/G] NM_005245 FAT1 EXON Synonymous_I3999I exm438349 4 187521168 [T/C] NM_005245 FAT1 EXON Missense_Y3996C exm438357 4 187521435 [T/C] NM_005245 FAT1 EXON Missense_N3907S exm438364 4 187522566 [T/C] NM_005245 FAT1 EXON Missense_T3833A exm438376 4 187524176 [A/G] NM_005245 FAT1 EXON Missense_P3788L variant.83823 4 187524329 [T/C] NM_005245 FAT1 Silent indel.83824 4 187524373 [I/D] NM_005245 FAT1 EXON exm438386 4 187524464 [A/G] NM_005245 FAT1 EXON Missense_A3739V exm438390 4 187524525 [T/C] NM_005245 FAT1 EXON Missense_V3719M exm438391 4 187524600 [T/C] NM_005245 FAT1 EXON Missense_V3694I exm438395 4 187524658 [C/G] NM_005245 FAT1 EXON Missense_R3674S exm2071446 4 187524677 [A/C] NM_005245 FAT1 EXON Missense_R3668L exm438400 4 187524714 [T/C] NM_005245 FAT1 EXON Missense_V3656I exm438422 4 187524923 [A/G] NM_005245 FAT1 EXON Missense_M3586T exm438425 4 187525020 [A/C] NM_005245 FAT1 EXON Missense_S3554A exm438429 4 187525083 [T/C] NM_005245 FAT1 EXON Missense_I3533V exm438431 4 187525108 [C/G] NM_005245 FAT1 EXON Missense_Q3524H exm438435 4 187525560 [T/C] NM_005245 FAT1 EXON Missense_E3507K exm438438 4 187525592 [A/G] NM_005245 FAT1 EXON Missense_V3496A exm438441 4 187525601 [A/G] NM_005245 FAT1 EXON Missense_P3493L exm438443 4 187525641 [T/C] NM_005245 FAT1 EXON Missense_I3480V exm438446 4 187525704 [T/C] NM_005245 FAT1 EXON Missense_V3459M exm438448 4 187525727 [T/G] NM_005245 FAT1 EXON Missense_E3451A exm2071455 4 187527259 [T/C] NM_005245 FAT1 EXON Missense_V3439I exm438455 4 187527319 [A/G] NM_005245 FAT1 EXON Missense_P3419S exm438456 4 187527321 [A/G] NM_005245 FAT1 EXON Missense_P3418L variant.83825 4 187530332 [T/C] NM_005245 FAT1 Silent exm438459 4 187530337 [T/C] NM_005245 FAT1 EXON Synonymous_T3402T exm438460 4 187530338 [A/G] NM_005245 FAT1 EXON Missense_T3402M exm438464 4 187530402 [T/C] NM_005245 FAT1 EXON Missense_S3381G exm438468 4 187530464 [T/C] NM_005245 FAT1 EXON Missense_D3360G variant.83827 4 187530955 [T/C] NM_005245 FAT1 EXON Synonymous_T3356T rs28647489 4 187531022 [A/G] NM_005245 FAT1 EXON Missense_V3334A exm438474 4 187531022 [A/G] NM_005245 FAT1 EXON Missense_V3334A exm438477 4 187531074 [T/C] NM_005245 FAT1 EXON Missense_D3317N exm438479 4 187531122 [A/G] NM_005245 FAT1 EXON Missense_Y3301H exm438484 4 187532667 [C/G] NM_005245 FAT1 EXON Missense_D3242E exm438486 4 187532696 [A/G] NM_005245 FAT1 EXON Missense_R3233C exm438489 4 187532810 [T/A] NM_005245 FAT1 EXON Missense_Y3195N exm438494 4 187534286 [A/C] NM_005245 FAT1 EXON Missense_V3147G rs2249916 4 187534363 [A/G] NM_005245 FAT1 EXON Synonymous_N3121N rs2249917 4 187534375 [A/G] NM_005245 FAT1 EXON Synonymous_D3117D exm438514 4 187535425 [A/G] NM_005245 FAT1 EXON Missense_A3050V exm438515 4 187535444 [T/G] NM_005245 FAT1 EXON Missense_Q3044K exm438516 4 187535479 [A/G] NM_005245 FAT1 EXON Missense_I3032T exm2071477 4 187538224 [A/G] NM_005245 FAT1 EXON Missense_S3004P exm438522 4 187538239 [T/C] NM_005245 FAT1 EXON Missense_T2999A exm2071478 4 187538271 [T/A] NM_005245 FAT1 EXON Missense_K2988I exm438534 4 187538942 [T/G] NM_005245 FAT1 EXON Missense_Q2933P exm438542 4 187539125 [A/G] NM_005245 FAT1 EXON Missense_L2872S exm438545 4 187539205 [T/C] NM_005245 FAT1 EXON Missense_M2845I exm438546 4 187539216 [T/C] NM_005245 FAT1 EXON Missense_G2842S exm438551 4 187539267 [T/C] NM_005245 FAT1 EXON Missense_G2825R exm2240789 4 187539275 [A/G] NM_005245 FAT1 EXON Missense_L2822P exm438553 4 187539323 [T/C] NM_005245 FAT1 EXON Missense_S2806N exm438564 4 187539588 [T/C] NM_005245 FAT1 EXON Missense_I2718V exm438573 4 187539783 [T/C] NM_005245 FAT1 EXON Missense_G2653S exm438587 4 187539971 [T/C] NM_005245 FAT1 EXON Missense_N2590S exm438589 4 187540040 [T/C] NM_005245 FAT1 EXON Missense_R2567H exm438594 4 187540095 [A/G] NM_005245 FAT1 EXON Missense_F2549L exm438598 4 187540190 [A/G] NM_005245 FAT1 EXON Missense_T2517M exm438605 4 187540442 [T/C] NM_005245 FAT1 EXON Missense_N2433S exm2071486 4 187540589 [T/C] NM_005245 FAT1 EXON Missense_N2384S exm438611 4 187540602 [T/C] NM_005245 FAT1 EXON Missense_V2380I exm438614 4 187540610 [A/G] NM_005245 FAT1 EXON Missense_T2377M exm438615 4 187540622 [T/C] NM_005245 FAT1 EXON Missense_D2373G exm438616 4 187540634 [A/G] NM_005245 FAT1 EXON Missense_T2369M exm438617 4 187540635 [T/G] NM_005245 FAT1 EXON Missense_T2369P exm438620 4 187540683 [A/C] NM_005245 FAT1 EXON Missense_S2353A exm438625 4 187540918 [G/C] NM_005245 FAT1 EXON Missense_D2274E exm438629 4 187540958 [A/G] NM_005245 FAT1 EXON Missense_T2261M exm438631 4 187540977 [A/G] NM_005245 FAT1 EXON Missense_R2255C exm438637 4 187541084 [A/G] NM_005245 FAT1 EXON Missense_T2219I exm2071494 4 187541283 [T/C] NM_005245 FAT1 EXON Missense_T2153A exm438654 4 187541379 [T/C] NM_005245 FAT1 EXON Missense_K2121E exm438659 4 187541475 [T/C] NM_005245 FAT1 EXON Missense_V2089I exm438670 4 187541661 [A/G] NM_005245 FAT1 EXON Missense_R2027C exm2274060 4 187541679 [A/G] NM_005245 FAT1 EXON Missense_R2021C exm438676 4 187541728 [A/C] NM_005245 FAT1 EXON Missense_I2004M exm438681 4 187541781 [A/C] NM_005245 FAT1 EXON Missense_V1987L exm438686 4 187541937 [T/C] NM_005245 FAT1 EXON Missense_A1935T exm438692 4 187542069 [T/G] NM_005245 FAT1 EXON Missense_P1891T exm2071502 4 187542152 [A/G] NM_005245 FAT1 EXON Missense_A1863V exm438697 4 187542201 [T/C] NM_005245 FAT1 EXON Missense_V1847I exm438705 4 187542380 [T/C] NM_005245 FAT1 EXON Missense_D1787G exm438712 4 187542434 [T/C] NM_005245 FAT1 EXON Missense_E1769G exm438726 4 187542755 [T/C] NM_005245 FAT1 EXON Missense_N1662S exm438730 4 187542788 [A/G] NM_005245 FAT1 EXON Missense_T1651I exm438732 4 187542899 [A/G] NM_005245 FAT1 EXON Missense_P1614L exm438734 4 187542927 [T/C] NM_005245 FAT1 EXON Missense_N1605D exm438737 4 187549364 [A/G] NM_005245 FAT1 EXON Missense_T1585M exm438738 4 187549401 [G/C] NM_005245 FAT1 EXON Missense_E1573Q exm438740 4 187549428 [T/C] NM_005245 FAT1 EXON Missense_A1564T rs2304867 4 187549428 [T/C] NM_005245 FAT1 EXON Missense_A1564T exm438743 4 187549473 [T/C] NM_005245 FAT1 EXON Missense_V1549M exm438747 4 187549725 [A/G] NM_005245 FAT1 EXON Missense_R1506C exm438749 4 187549766 [G/C] NM_005245 FAT1 EXON Missense_T1492S exm438752 4 187549809 [T/C] NM_005245 FAT1 EXON Missense_I1478V exm438757 4 187549883 [T/C] NM_005245 FAT1 EXON Missense_R1453H exm438759 4 187549905 [T/C] NM_005245 FAT1 EXON Missense_V1446I exm438760 4 187554849 [T/C] NM_005245 FAT1 EXON Missense_I1438V variant.83829 4 187557280 [T/G] NM_005245 FAT1 EXON Nonsense_S1361X exm438767 4 187557301 [T/C] NM_005245 FAT1 EXON Missense_E1354G exm438769 4 187557373 [T/C] NM_005245 FAT1 EXON Missense_N1330S variant.83830 4 187557739 [T/C] NM_005245 FAT1 EXON Synonymous_S1324S exm438775 4 187557782 [A/G] NM_005245 FAT1 EXON Missense_S1310L exm438779 4 187557863 [A/G] NM_005245 FAT1 EXON Missense_P1283L exm438781 4 187557893 [T/C] NM_005245 FAT1 EXON Missense_H1273R exm438782 4 187557908 [T/C] NM_005245 FAT1 EXON Missense_R1268Q variant.83832 4 187557927 [A/G] NM_005245 FAT1 EXON Nonsense_R1262X exm438786 4 187557962 [T/C] NM_005245 FAT1 EXON Missense_Y1250C rs7663350 4 187561798 [T/C] NM_005245 FAT1 Silent rs328431 4 187573918 [T/C] NM_005245 FAT1 Silent rs1388297 4 187574398 [T/C] NM_005245 FAT1 Silent rs7672047 4 187580706 [T/C] NM_005245 FAT1 Silent exm2071536 4 187584498 [T/A] NM_005245 FAT1 EXON Missense_T1179S exm438797 4 187584530 [A/G] NM_005245 FAT1 EXON Missense_S1168L exm438798 4 187584587 [A/G] NM_005245 FAT1 EXON Missense_M1149T exm2071539 4 187584654 [T/C] NM_005245 FAT1 EXON Missense_I1127V exm438800 4 187584660 [T/G] NM_005245 FAT1 EXON Missense_I1125L exm438802 4 187584684 [T/C] NM_005245 FAT1 EXON Missense_V1117M exm438803 4 187584696 [T/C] NM_005245 FAT1 EXON Missense_D1113N exm438805 4 187584708 [C/G] NM_005245 FAT1 EXON Missense_V1109L rs162182 4 187589603 [T/C] NM_005245 FAT1 Silent rs10025804 4 187590946 [T/C] NM_005245 FAT1 Silent rs4862723 4 187591526 [T/C] NM_005245 FAT1 Silent rs455600 4 187601962 [T/C] NM_005245 FAT1 Silent rs455219 4 187622064 [A/G] NM_005245 FAT1 Silent rs13123522 4 187627160 [T/C] NM_005245 FAT1 Silent var_4_187627712 4 187627712 [T/C] NM_005245 FAT1 Silent variant.83835 4 187627716 [A/C] NM_005245 FAT1 Silent exm438815 4 187627765 [T/C] NM_005245 FAT1 EXON Missense_I1073V exm438816 4 187627792 [T/C] NM_005245 FAT1 EXON Missense_R1064G exm438817 4 187627815 [A/G] NM_005245 FAT1 EXON Missense_V1056A exm438819 4 187627818 [A/G] NM_005245 FAT1 EXON Missense_T1055M exm438823 4 187627915 [T/C] NM_005245 FAT1 EXON Missense_V1023I exm438828 4 187628076 [T/C] NM_005245 FAT1 EXON Missense_H969R variant.83836 4 187628173 [A/G] NM_005245 FAT1 EXON Nonsense_R937X exm438841 4 187628248 [T/C] NM_005245 FAT1 EXON Missense_V912I exm2071546 4 187628344 [T/C] NM_005245 FAT1 EXON Missense_A880T exm438846 4 187628365 [T/C] NM_005245 FAT1 EXON Missense_V873M exm438849 4 187628398 [G/C] NM_005245 FAT1 EXON Missense_V862L exm438850 4 187628401 [T/C] NM_005245 FAT1 EXON Missense_I861V exm438852 4 187628419 [T/C] NM_005245 FAT1 EXON Missense_G855R exm438855 4 187628556 [T/C] NM_005245 FAT1 EXON Missense_H809R exm438857 4 187628637 [T/C] NM_005245 FAT1 EXON Missense_R782H exm438864 4 187628841 [A/G] NM_005245 FAT1 EXON Missense_P714L exm438865 4 187628845 [T/G] NM_005245 FAT1 EXON Missense_I713L exm438868 4 187628947 [T/C] NM_005245 FAT1 EXON Missense_V679I exm438871 4 187629042 [A/G] NM_005245 FAT1 EXON Missense_A647V exm438873 4 187629076 [T/C] NM_005245 FAT1 EXON Missense_A636T exm438878 4 187629140 [C/G] NM_005245 FAT1 EXON Missense_F614L exm438880 4 187629232 [T/C] NM_005245 FAT1 EXON Missense_V584M exm438885 4 187629268 [T/C] NM_005245 FAT1 EXON Missense_I572V exm2256533 4 187629296 [T/C] NM_005245 FAT1 EXON Synonymous_L562L exm438897 4 187629490 [T/C] NM_005245 FAT1 EXON Missense_V498M rs3733413 4 187629538 [T/C] NM_005245 FAT1 EXON Missense_V482I exm438900 4 187629538 [T/C] NM_005245 FAT1 EXON Missense_V482I exm438905 4 187629583 [A/C] NM_005245 FAT1 EXON Missense_A467S exm438912 4 187629770 [A/C] NM_005245 FAT1 EXON Missense_S404R rs3733414 4 187629770 [A/C] NM_005245 FAT1 EXON Missense_S404R exm438918 4 187629838 [A/G] NM_005245 FAT1 EXON Missense_P382S indel.83837 4 187629885 [I/D] NM_005245 FAT1 EXON exm438928 4 187630047 [C/G] NM_005245 FAT1 EXON Missense_S312T exm438931 4 187630099 [T/C] NM_005245 FAT1 EXON Missense_V295M exm438943 4 187630347 [T/A] NM_005245 FAT1 EXON Missense_Y212F exm438950 4 187630590 [A/G] NM_005245 FAT1 EXON Missense_A131V rs3733415 4 187630590 [A/G] NM_005245 FAT1 EXON Missense_A131V exm438951 4 187630597 [G/C] NM_005245 FAT1 EXON Missense_V129L exm438956 4 187630813 [T/C] NM_005245 FAT1 EXON Missense_V57I exm438963 4 187630905 [T/C] NM_005245 FAT1 EXON Missense_R26Q exm2071574 4 187630998 [A/G] NM_005245 FAT1 EXON Silent rs11132407 4 187656456 [T/G] rs6553020 4 187668886 [T/C] rs11729956 4 187672156 [A/C] exm-rs925642 4 187678866 [T/C] rs7660386 4 187688114 [A/G] rs6856002 4 187693326 [T/C] rs6834299 4 187697015 [T/C] rs6847347 4 187707798 [T/C] rs11132408 4 187716010 [T/G] rs11132409 4 187722479 [T/C] rs7689213 4 187730631 [A/G] rs1583219 4 187751154 [T/C] rs4862735 4 187756317 [T/G] rs1431929 4 187775324 [A/G] exm2265810 4 187775639 [A/G] rs322442 4 187788311 [A/G] rs172818 4 187797022 [A/C] rs4862740 4 187802501 [A/G] rs397321 4 187815647 [A/G] rs9685837 4 187818466 [A/G] rs322398 4 187828093 [T/C] rs1895844 4 187833759 [T/C] rs322429 4 187836373 [T/C] rs10018164 4 187843726 [A/G] rs6829485 4 187848075 [A/G] rs754548 4 187860363 [A/G] rs11728508 4 187866343 [A/G] rs9998558 4 187874691 [A/G] rs13152414 4 187894710 [A/G] rs6858853 4 187903412 [T/G] rs966575 4 187916373 [T/C] rs6856787 4 187932716 [T/C] rs7687629 4 187946831 [T/C] rs1559779 4 187949161 [T/C] rs715070 4 187954207 [A/G] rs6835306 4 187966612 [T/C] rs6814129 4 187969329 [A/G] rs4476657 4 187978589 [A/G] rs7441526 4 187979630 [A/G] rs4507419 4 187979712 [T/C] rs13104006 4 188000653 [T/G] rs7662795 4 188004538 [A/C] rs2029257 4 188005948 [T/G] rs6818214 4 188009643 [A/G] rs7665787 4 188013721 [T/C] rs13129961 4 188022194 [A/G] rs4862774 4 188041074 [A/C] rs6858203 4 188051175 [A/G] rs10024641 4 188051690 [A/G] rs4611977 4 188061467 [T/C] rs1487582 4 188073672 [A/G] rs11730573 4 188079254 [A/G] rs11132427 4 188079777 [A/G] rs6826520 4 188099394 [T/C] rs3860698 4 188100664 [A/G] rs931370 4 188105792 [A/C] rs4472191 4 188114093 [T/C] rs7692743 4 188114879 [A/G] rs13121701 4 188115905 [A/G] rs6811993 4 188125082 [T/C] rs7674650 4 188127832 [T/C] rs7699015 4 188138856 [T/C] rs7695955 4 188157742 [T/C] rs6831858 4 188166889 [A/G] exm2265900 4 188170467 [A/G] rs4321687 4 188172182 [A/G] rs10461324 4 188186955 [A/C] rs4478239 4 188191306 [A/C] rs13126689 4 188209801 [T/C] rs4308418 4 188213866 [T/C] rs9993067 4 188223037 [T/C] rs6836534 4 188230701 [T/C] NR_038931 LOC339975 EXON Silent rs1319774 4 188258978 [T/C] NR_038931 LOC339975 Silent exm2269892 4 188258978 [T/C] NR_038931 LOC339975 Silent rs1870852 4 188280616 [T/C] NR_038931 LOC339975 Silent rs13107031 4 188289740 [A/C] NR_038931 LOC339975 Silent rs3911752 4 188294980 [A/G] NR_038931 LOC339975 Silent rs12505423 4 188295836 [A/G] NR_038931 LOC339975 Silent rs7684641 4 188302273 [A/G] NR_038931 LOC339975 Silent rs10018680 4 188311821 [T/C] NR_038931 LOC339975 Silent rs2217486 4 188332196 [T/C] NR_038931 LOC339975 Silent rs11132449 4 188345346 [T/G] NR_038931 LOC339975 Silent exm-rs1431005 4 188345368 [A/G] NR_038931 LOC339975 Silent rs1431005 4 188345368 [A/G] NR_038931 LOC339975 Silent rs11132451 4 188364027 [T/C] NR_038931 LOC339975 Silent rs6553069 4 188381449 [A/G] NR_038931 LOC339975 Silent rs13141517 4 188394768 [A/G] NR_038931 LOC339975 Silent rs4862810 4 188398695 [T/C] NR_038931 LOC339975 Silent rs7667497 4 188406503 [A/G] NR_038931 LOC339975 Silent rs10027738 4 188411479 [A/G] NR_038931 LOC339975 Silent rs4861749 4 188426129 [T/C] NR_038931 LOC339975 Silent rs13122177 4 188439795 [A/G] exm2265901 4 188451707 [A/G] rs6857356 4 188469538 [A/G] rs6812381 4 188493082 [A/G] rs11734029 4 188498590 [T/C] rs871603 4 188499628 [T/C] rs6826401 4 188509004 [T/C] rs1876072 4 188536462 [A/G] rs1354634 4 188547880 [T/C] rs2279883 4 188554682 [T/C] rs1505509 4 188570203 [A/G] rs2292161 4 188581325 [A/G] rs1466956 4 188590603 [A/G] rs11930461 4 188590745 [A/C] rs7684752 4 188597930 [T/C] rs7687115 4 188608857 [A/G] rs9992966 4 188615607 [T/C] rs10026452 4 188627935 [T/C] rs12648438 4 188628654 [A/C] rs4266338 4 188632948 [T/C] rs6844220 4 188645813 [A/G] rs11132478 4 188648818 [A/G] rs13114385 4 188669480 [A/C] rs7658700 4 188675224 [T/C] rs13148546 4 188690307 [A/C] rs7683009 4 188698095 [T/C] rs4861758 4 188707091 [T/G] rs6845047 4 188724806 [T/C] rs10017989 4 188730709 [T/C] rs9996150 4 188734615 [A/G] rs4566706 4 188746046 [A/G] rs13120072 4 188770791 [T/C] rs12648158 4 188786838 [T/C] rs4377642 4 188792218 [T/C] rs4862838 4 188801533 [A/G] rs4618368 4 188805951 [T/C] rs4315850 4 188815970 [T/G] rs11132490 4 188834175 [A/C] rs6813823 4 188842209 [A/G] rs6553113 4 188843305 [T/C] rs10866305 4 188844211 [A/G] rs2131290 4 188859908 [A/G] rs7696985 4 188865510 [T/C] rs12644789 4 188887420 [T/C] rs4861762 4 188892958 [T/G] rs13146799 4 188899298 [T/C] rs7439650 4 188904235 [A/G] exm2269893 4 188905061 [T/C] rs6553122 4 188909667 [T/C] rs6836268 4 188911842 [T/C] exm438968 4 188924050 [A/G] NM_174900 ZFP42 EXON Missense_G30D exm438975 4 188924151 [A/G] NM_174900 ZFP42 EXON Missense_G64R variant.83838 4 188924177 [A/C] NM_174900 ZFP42 EXON Nonsense_Y72X exm438977 4 188924230 [T/C] NM_174900 ZFP42 EXON Missense_S90L exm438994 4 188924506 [A/T] NM_174900 ZFP42 EXON Missense_Y182F exm438995 4 188924523 [A/G] NM_174900 ZFP42 EXON Missense_I188V exm438996 4 188924554 [A/G] NM_174900 ZFP42 EXON Missense_K198R exm438999 4 188924601 [C/G] NM_174900 ZFP42 EXON Missense_P214A exm439005 4 188924698 [T/G] NM_174900 ZFP42 EXON Missense_R246L exm439008 4 188924713 [A/G] NM_174900 ZFP42 EXON Missense_G251E exm439014 4 188924793 [T/C] NM_174900 ZFP42 EXON Missense_P278S rs6840208 4 188933651 [A/G] rs11733349 4 188936629 [T/C] rs2172340 4 188938468 [T/C] rs6553132 4 188939849 [T/C] rs6553136 4 188945315 [A/G] rs6553138 4 188953780 [T/G] rs6853977 4 188956686 [T/C] rs11729469 4 188959641 [T/C] rs2376393 4 188959863 [A/G] rs4440286 4 188963851 [A/G] rs12501116 4 188971489 [A/G] exm-rs11734306 4 188973194 [A/C] rs1540663 4 188981386 [A/G] rs11132507 4 188985493 [T/C] rs12644540 4 188998692 [T/C] rs6849766 4 189010521 [A/G] rs12647135 4 189011174 [A/C] exm439020 4 189012577 [C/G] NM_173553 TRIML2 EXON Missense_L372V exm439021 4 189012586 [A/G] NM_173553 TRIML2 EXON Missense_P369S exm439024 4 189012660 [T/C] NM_173553 TRIML2 EXON Missense_N344S exm439025 4 189012667 [T/G] NM_173553 TRIML2 EXON Missense_I342L exm439037 4 189012810 [A/G] NM_173553 TRIML2 EXON Missense_S294L exm439038 4 189012816 [A/G] NM_173553 TRIML2 EXON Missense_T292M exm439039 4 189012829 [T/C] NM_173553 TRIML2 EXON Missense_K288E exm439042 4 189012846 [A/G] NM_173553 TRIML2 EXON Missense_A282V exm439043 4 189012849 [A/G] NM_173553 TRIML2 EXON Missense_T281M exm439045 4 189012861 [A/G] NM_173553 TRIML2 EXON Missense_A277V exm439047 4 189012901 [T/C] NM_173553 TRIML2 EXON Missense_T264A exm2071590 4 189013000 [C/G] NM_173553 TRIML2 EXON Missense_A231P exm439054 4 189013081 [T/C] NM_173553 TRIML2 EXON Missense_D204N rs10004012 4 189018613 [A/G] NM_173553 TRIML2 Silent exm439068 4 189020223 [T/G] NM_173553 TRIML2 EXON Missense_K146T exm439069 4 189020236 [T/C] NM_173553 TRIML2 EXON Missense_V142M exm439071 4 189020260 [T/C] NM_173553 TRIML2 EXON Missense_V134I exm439077 4 189020319 [T/C] NM_173553 TRIML2 EXON Missense_R114H exm439079 4 189022256 [T/A] NM_173553 TRIML2 EXON Missense_I95N exm439080 4 189022310 [T/A] NM_173553 TRIML2 EXON Missense_Q77L exm439085 4 189022350 [A/G] NM_173553 TRIML2 EXON Missense_R64W exm439088 4 189022398 [T/C] NM_173553 TRIML2 EXON Missense_E48K rs4862860 4 189022420 [A/G] NM_173553 TRIML2 Silent indel.83843 4 189025993 [D/I] NM_173553 TRIML2 EXON indel.83844 4 189026032 [I/D] NM_173553 TRIML2 EXON exm439093 4 189026085 [T/C] NM_173553 TRIML2 EXON Missense_K14R rs9684216 4 189031028 [A/G] rs13116982 4 189036322 [A/G] rs6553155 4 189045617 [A/G] rs6419960 4 189055298 [A/G] rs34645730 4 189059174 [T/C] rs11938607 4 189060431 [T/C] exm439103 4 189060803 [A/T] NM_178556 TRIML1 EXON Missense_C31S exm439104 4 189060860 [T/C] NM_178556 TRIML1 EXON Missense_P50S exm439111 4 189060945 [T/C] NM_178556 TRIML1 EXON Missense_A78V exm439115 4 189060983 [C/G] NM_178556 TRIML1 EXON Missense_E91Q exm439116 4 189060998 [A/G] NM_178556 TRIML1 EXON Missense_G96R exm439117 4 189061010 [A/G] NM_178556 TRIML1 EXON Missense_T100A exm439122 4 189061086 [A/T] NM_178556 TRIML1 EXON Missense_V125E exm2275787 4 189061099 [A/C] NM_178556 TRIML1 EXON Missense_S129R exm439123 4 189061106 [A/G] NM_178556 TRIML1 EXON Missense_E132K rs6553160 4 189062214 [T/C] NM_178556 TRIML1 Silent var_4_189063427 4 189063427 [T/C] NM_178556 TRIML1 EXON Nonsense_Q176X indel.83848 4 189063482 [I/D] NM_178556 TRIML1 EXON exm439142 4 189063589 [A/G] NM_178556 TRIML1 EXON Missense_A230T exm439146 4 189063625 [A/G] NM_178556 TRIML1 EXON Missense_E242K exm439154 4 189065193 [C/G] NM_178556 TRIML1 EXON Missense_S254R exm2071626 4 189065225 [T/C] NM_178556 TRIML1 EXON Missense_T265I exm439172 4 189068117 [T/C] NM_178556 TRIML1 EXON Missense_T333I exm439177 4 189068317 [A/G] NM_178556 TRIML1 EXON Missense_V400I exm439181 4 189068380 [T/C] NM_178556 TRIML1 EXON Missense_Y421H exm439183 4 189068390 [T/C] NM_178556 TRIML1 EXON Missense_T424M exm439186 4 189068510 [T/G] NM_178556 TRIML1 EXON Missense_L464R rs11733655 4 189069181 [T/C] rs11723187 4 189070726 [A/G] rs4349672 4 189088220 [T/C] rs4323178 4 189095790 [T/G] rs6827299 4 189098744 [T/C] rs7665403 4 189101773 [T/C] rs4492063 4 189115231 [A/G] rs6818741 4 189119202 [T/C] rs4863386 4 189138814 [A/C] rs7677236 4 189139258 [A/G] rs10001461 4 189143475 [A/G] rs3924963 4 189144799 [T/C] rs12650036 4 189150117 [A/G] rs6553184 4 189150656 [A/G] rs4863079 4 189166087 [T/C] rs4476671 4 189171046 [T/C] rs4551004 4 189175651 [A/G] rs13145617 4 189181266 [A/G] rs7378399 4 189194661 [A/G] rs4077675 4 189196692 [T/G] rs11132538 4 189205404 [T/C] rs7661001 4 189213925 [A/C] rs10006245 4 189214720 [A/G] rs4618385 4 189216438 [T/G] rs11735401 4 189220431 [A/G] rs10017800 4 189223524 [A/G] rs4862987 4 189227731 [A/G] rs6553193 4 189229216 [A/G] rs11724270 4 189230337 [T/C] rs6828177 4 189233294 [A/G] rs12501166 4 189246406 [T/G] rs11935681 4 189247480 [T/C] rs6841379 4 189265168 [A/G] rs952719 4 189271272 [T/G] rs11132547 4 189285725 [A/C] rs1507074 4 189288591 [T/C] rs4863321 4 189293076 [A/G] rs11938549 4 189300955 [T/C] rs6553201 4 189303096 [T/C] rs7669530 4 189303437 [A/G] rs12505859 4 189305026 [A/G] rs12499318 4 189306182 [A/G] rs2376746 4 189313688 [T/G] rs10028269 4 189315208 [T/G] rs12648353 4 189331063 [A/G] rs12504808 4 189334307 [T/C] rs2292432 4 189338040 [A/G] rs2292433 4 189338469 [T/C] rs7690014 4 189344863 [T/C] rs993424 4 189347578 [T/C] rs12505646 4 189355668 [T/C] rs10026052 4 189362292 [A/G] rs13107630 4 189365509 [T/C] rs2292434 4 189371244 [A/G] rs425974 4 189377718 [A/C] NR_033869 LOC401164 Silent rs10019893 4 189384671 [A/C] NR_033869 LOC401164 Silent rs314065 4 189388320 [T/G] NR_033869 LOC401164 Silent rs13114765 4 189390949 [T/G] NR_033869 LOC401164 Silent rs9996809 4 189394485 [A/G] NR_033869 LOC401164 Silent rs11734013 4 189402063 [A/G] NR_033869 LOC401164 Silent rs2089408 4 189402769 [A/G] NR_033869 LOC401164 Silent rs1911504 4 189404004 [A/G] NR_033869 LOC401164 Silent rs6833998 4 189416683 [A/G] NR_033869 LOC401164 Silent rs6812291 4 189419282 [A/G] NR_033869 LOC401164 Silent rs4863330 4 189430792 [A/G] NR_033869 LOC401164 Silent rs10018170 4 189436829 [T/C] NR_033869 LOC401164 Silent rs11132556 4 189436841 [T/C] NR_033869 LOC401164 Silent rs10033480 4 189447377 [A/G] NR_033869 LOC401164 Silent rs6553202 4 189449669 [A/G] NR_033869 LOC401164 Silent rs7679676 4 189456233 [T/G] NR_033869 LOC401164 Silent rs1511805 4 189457782 [T/C] NR_033869 LOC401164 Silent rs6826087 4 189475684 [A/G] NR_033869 LOC401164 Silent rs2376964 4 189478215 [A/G] NR_033869 LOC401164 Silent rs7700176 4 189489351 [A/G] NR_033869 LOC401164 Silent rs12643289 4 189499145 [T/C] NR_033869 LOC401164 Silent rs12640778 4 189499621 [T/C] NR_033869 LOC401164 Silent rs11735644 4 189507018 [T/C] NR_033869 LOC401164 Silent rs4863354 4 189522110 [T/C] NR_033869 LOC401164 Silent rs4549442 4 189522393 [A/G] NR_033869 LOC401164 Silent rs4241895 4 189528831 [T/C] exm2261683 4 189540683 [A/G] rs11729434 4 189547648 [A/G] rs464270 4 189554217 [T/C] rs13110503 4 189557490 [T/C] rs11132565 4 189563127 [T/C] rs360117 4 189571541 [T/C] rs7686384 4 189584353 [T/C] exm-rs7659062 4 189587079 [T/C] rs7659814 4 189587367 [A/G] rs1478563 4 189589490 [T/C] rs1038095 4 189608461 [A/G] rs10434313 4 189616701 [A/G] rs6818117 4 189633448 [T/G] rs13106691 4 189636722 [T/C] rs7681177 4 189653624 [A/G] rs930995 4 189654390 [T/C] rs7685306 4 189663354 [T/C] rs6849122 4 189673094 [T/C] rs4254824 4 189680142 [A/G] rs4863387 4 189687397 [T/C] rs13143885 4 189689395 [T/C] rs10000370 4 189690332 [A/G] rs1461780 4 189713163 [T/C] rs3911069 4 189737788 [A/C] rs9999605 4 189749745 [A/G] rs11938315 4 189750033 [T/C] rs4359959 4 189759591 [T/C] rs6553238 4 189759697 [T/C] exm2269894 4 189759697 [T/C] rs6834584 4 189765784 [T/C] rs1448738 4 189785918 [A/G] rs6828833 4 189792991 [T/C] rs10434317 4 189797770 [A/G] rs10434319 4 189798780 [A/G] rs12498968 4 189812524 [T/C] rs7669213 4 189818663 [T/C] rs13120352 4 189819886 [A/C] rs1448726 4 189831920 [A/G] rs10001577 4 189850773 [T/C] rs3860664 4 189851017 [A/G] rs4863076 4 189861178 [T/G] rs3860668 4 189868753 [T/G] rs11937288 4 189870956 [A/C] rs10027878 4 189876706 [A/G] rs6840831 4 189884512 [A/C] rs12507360 4 189885883 [T/C] rs3849635 4 189887863 [T/G] rs7662770 4 189891709 [A/G] rs6820632 4 189892200 [A/G] rs10012177 4 189906617 [A/G] rs10018868 4 189931630 [T/G] rs1908801 4 189939769 [A/G] rs11132597 4 189942126 [A/C] rs11941513 4 189949645 [A/C] rs7656029 4 189950840 [A/G] rs10004274 4 189952149 [A/G] rs1463792 4 189957977 [T/G] rs1982946 4 189967275 [A/C] rs7688840 4 189969670 [T/C] rs4863449 4 189987905 [T/C] rs4863450 4 189988249 [T/C] rs1353581 4 189989989 [A/G] rs10016346 4 189996454 [T/C] rs1948573 4 189998904 [T/C] rs1496937 4 190004805 [A/G] rs1353583 4 190006628 [T/C] exm-rs4260585 4 190008681 [A/G] rs11931092 4 190010270 [T/C] rs7700119 4 190020650 [A/G] rs6841266 4 190034291 [T/C] rs9631786 4 190042584 [A/G] rs7695418 4 190044666 [T/G] rs4285137 4 190050735 [A/G] rs9993186 4 190056070 [A/C] rs13135232 4 190064912 [T/G] rs6822346 4 190065197 [A/G] rs4241915 4 190070914 [A/G] rs11737011 4 190071985 [A/G] rs7699928 4 190088167 [T/C] rs6848521 4 190093246 [T/C] rs4241857 4 190098562 [T/C] rs6855006 4 190103064 [A/G] rs12650063 4 190111329 [A/G] rs11732071 4 190129325 [T/C] rs4863120 4 190130349 [T/C] rs11932479 4 190132623 [A/G] rs6833202 4 190137076 [A/C] rs11940741 4 190147729 [T/C] exm2256539 4 190151383 [A/C] rs3922497 4 190170679 [A/G] rs4400040 4 190176475 [T/C] rs6553297 4 190181541 [A/C] rs9998868 4 190188452 [A/G] rs7667607 4 190206038 [T/C] rs4241871 4 190209288 [A/G] rs6841296 4 190256300 [A/G] rs4863138 4 190261652 [A/G] rs4608851 4 190262811 [T/C] rs10032784 4 190268759 [T/C] rs11930136 4 190278973 [A/G] rs11943937 4 190292844 [A/G] rs1563455 4 190293157 [T/G] rs870190 4 190294537 [T/C] rs4863145 4 190296345 [T/G] rs4863155 4 190300221 [A/G] rs876623 4 190306460 [A/C] rs1563452 4 190311936 [T/G] rs11132649 4 190317498 [A/G] rs6553315 4 190328590 [T/C] rs4863170 4 190333580 [T/C] rs1350180 4 190336803 [T/G] rs10034049 4 190338123 [T/G] rs9994370 4 190344851 [T/C] rs2054178 4 190347676 [A/G] rs10007036 4 190371697 [A/G] rs12646102 4 190389490 [A/G] rs4862968 4 190407970 [T/G] rs9312400 4 190413642 [T/C] rs6838957 4 190414241 [A/G] rs11132664 4 190414910 [T/C] rs1551137 4 190438606 [A/G] rs1597619 4 190448383 [T/C] rs1597620 4 190450305 [A/G] rs9985694 4 190459134 [A/G] rs6826535 4 190467123 [A/G] kgp267314 4 190467732 [T/C] rs1017608 4 190469858 [A/G] rs11724261 4 190522201 [A/G] rs4092077 4 190543118 [T/C] rs11934199 4 190544009 [T/C] rs11132733 4 190641170 [T/C] rs1915856 4 190685303 [A/G] rs2251432 4 190688592 [A/G] rs7684487 4 190690945 [T/C] rs2256056 4 190703063 [T/G] rs2140051 4 190708873 [A/G] rs11732701 4 190723387 [A/G] rs2739553 4 190734306 [A/G] rs6844114 4 190745892 [A/G] rs2685823 4 190748138 [A/G] exm2261684 4 190758884 [T/C] rs2685875 4 190763337 [A/G] rs11931018 4 190763591 [A/G] rs2739584 4 190777761 [T/C] rs13119686 4 190783028 [A/G] rs4481275 4 190829838 [A/G] rs1138726 4 190862083 [T/C] NM_004477 FRG1 EXON Silent rs4263440 4 190862126 [A/G] NM_004477 FRG1 EXON Silent rs12646565 4 190872778 [T/C] NM_004477 FRG1 Silent indel.83852 4 190873340 [I/D] NM_004477 FRG1 EXON exm439269 4 190876192 [A/C] NM_004477 FRG1 EXON Missense_R106S exm2240801 4 190876268 [A/G] NM_004477 FRG1 EXON Missense_I132V exm439296 4 190878569 [T/C] NM_004477 FRG1 EXON Missense_L150S exm439297 4 190878571 [A/G] NM_004477 FRG1 EXON Missense_A151T exm439298 4 190878577 [A/G] NM_004477 FRG1 EXON Missense_N153D rs11736960 4 190880409 [A/G] NM_004477 FRG1 Silent exm439345 4 190883077 [A/C] NM_004477 FRG1 EXON Missense_L244I exm439359 4 190903682 [A/C] exm439380 4 190903827 [T/C] exm2265813 4 190915650 [A/G] MitoA8870G 1 569418 [A/G] rs3094315 1 752566 [A/G] rs3131972 1 752721 [A/G] exm2268640 1 762320 [T/C] NR_024321 LINC00115 EXON Silent rs11240777 1 798959 [A/G] rs4475691 1 846808 [T/C] exm41 1 861349 [T/C] NM_152486 SAMD11 EXON Missense_P10S rs13302982 1 861808 [A/G] NM_152486 SAMD11 Silent 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 variant.16 1 887521 [T/C] NM_015658 NOC2L Silent 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 exm545 1 898782 [T/C] NM_198317 KLHL17 EXON Missense_P418L exm546 1 898787 [T/G] NM_198317 KLHL17 EXON Missense_V420L 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 exm596 1 900427 [A/G] NM_198317 KLHL17 EXON Synonymous_E595E exm2253593 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_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S4N,Missense_S4N exm615 1 901923 [A/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S4R,Missense_S4R exm628 1 902128 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_A43V,Missense_A43V exm629 1 902133 [C/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R45G,Missense_R45G exm635 1 902176 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_P59L,Missense_P59L rs28391282 1 904165 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 Silent,Silent exm638 1 905723 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_G84R,Missense_G84R exm639 1 905729 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R86W,Missense_R86W exm648 1 905901 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_D111N,Missense_D111N exm656 1 906067 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_G138E,Missense_G138E exm662 1 906100 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_P149L,Missense_P149L exm668 1 906132 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_I160V,Missense_I160V exm674 1 906298 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R175Q,Missense_R175Q exm1918903 1 906472 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Silent,Missense_E210K exm684 1 906494 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R205H,Missense_R217H exm687 1 906512 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R211Q,Missense_R223Q exm694 1 906583 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_A235T,Missense_A247T exm697 1 906717 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R241Q,Missense_R253Q exm714 1 907676 [T/A] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_I292F,Missense_I304F exm717 1 907709 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_E303K,Missense_E315K exm725 1 907799 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S333P,Missense_S345P exm727 1 908275 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_G346D,Missense_G358D exm1918959 1 908323 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R362H,Missense_R374H exm738 1 908389 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_P384L,Missense_P396L exm739 1 908390 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Synonymous_P384P,Synonymous_P396P exm741 1 908585 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R391H,Silent exm742 1 908587 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_A392T,Silent exm762 1 908944 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S453L,Missense_S418L exm767 1 909015 [G/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_E477Q,Missense_E442Q exm773 1 909238 [G/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R487P,Missense_R452P exm777 1 909253 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S492L,Missense_S457L exm779 1 909268 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S497L,Missense_S462L exm781 1 909276 [T/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_V500L,Missense_V465L exm782 1 909309 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S511P,Missense_S476P exm2253598 1 909320 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Synonymous_P514P,Synonymous_P479P exm792 1 909381 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R535W,Missense_R500W exm804 1 909846 [A/G] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_R576Q,Missense_R541Q exm810 1 909888 [T/C] NM_032129,NM_001160184 PLEKHN1,PLEKHN1 EXON Missense_S590F,Missense_S555F rs2341354 1 918573 [A/G] rs9777703 1 928836 [T/C] rs1891910 1 932457 [A/G] 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 rs3128117 1 944564 [T/C] 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 rs3128126 1 962210 [A/G] NM_198576 AGRN Silent 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 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 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 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 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 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 rs2465136 1 990417 [T/C] NM_198576 AGRN EXON Silent rs7526076 1 998395 [A/G] rs9442372 1 1018704 [A/G] NM_017891 C1orf159 Silent 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 rs10907178 1 1021583 [A/C] NM_017891 C1orf159 Silent 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 rs6687776 1 1030565 [T/C] NM_017891 C1orf159 Silent rs6671356 1 1040026 [T/C] NM_017891 C1orf159 Silent exm2263810 1 1062638 [A/C] rs9442373 1 1062638 [A/C] rs10907182 1 1066403 [T/C] rs9442385 1 1097335 [T/G] rs4442317 1 1106784 [T/C] rs11260542 1 1110019 [A/G] NM_001130045 TTLL10 Silent rs12092254 1 1113121 [A/G] NM_001130045 TTLL10 Silent 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 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 rs11260549 1 1121794 [A/G] NM_001130045 TTLL10 Silent rs10907175 1 1130727 [A/C] NM_001130045 TTLL10 Silent rs3819001 1 1138913 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Silent,Silent,Silent exm1677 1 1139062 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_S226L,Silent,Silent exm1687 1 1139251 [G/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_R163T,Missense_K226N,Missense_K233N exm1688 1 1139268 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Synonymous_S157S,Nonsense_R221X,Nonsense_R228X exm1691 1 1139277 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Synonymous_S154S,Missense_R218W,Missense_R225W exm1692 1 1139287 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_P151L,Synonymous_P214P,Synonymous_P221P exm1693 1 1139308 [A/G] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_T144M,Synonymous_D207D,Synonymous_D214D exm1695 1 1139320 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_R140H,Synonymous_P203P,Synonymous_P210P exm1703 1 1139498 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Silent,Missense_V173M,Missense_V173M exm1701740 1 1139603 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Silent,Missense_G138R,Missense_G138R exm1726 1 1140855 [T/C] NM_148901,NM_148902,NM_004195 TNFRSF18,TNFRSF18,TNFRSF18 EXON Missense_E69K,Missense_E69K,Missense_E69K 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_016547,NM_016176 SDF4,SDF4 EXON Silent,Missense_A355V exm1812 1 1152971 [T/C] NM_016547,NM_016176 SDF4,SDF4 EXON Silent,Missense_E337G exm1822 1 1153047 [T/C] NM_016547,NM_016176 SDF4,SDF4 EXON Silent,Missense_E312K exm1702568 1 1153073 [A/G] NM_016547,NM_016176 SDF4,SDF4 EXON Missense_R342C,Silent exm1829 1 1153099 [A/G] NM_016547,NM_016176 SDF4,SDF4 EXON Missense_A333V,Silent exm1832 1 1153129 [T/C] NM_016547,NM_016176 SDF4,SDF4 EXON Missense_R323Q,Silent exm1839 1 1153858 [T/C] NM_016547,NM_016176 SDF4,SDF4 EXON Missense_V298M,Missense_V298M exm2230853 1 1154157 [T/C] NM_016547,NM_016176 SDF4,SDF4 EXON Missense_R243Q,Missense_R243Q rs3813199 1 1158277 [A/G] NM_016547,NM_016176 SDF4,SDF4 Silent,Silent exm1862 1 1158672 [T/C] NM_016547,NM_016176 SDF4,SDF4 EXON Missense_V177I,Missense_V177I 1KG_1_1158675 1 1158675 [I/D] NM_016547,NM_016176 SDF4,SDF4 EXON exm1864 1 1159213 [A/G] NM_016547,NM_016176 SDF4,SDF4 EXON Synonymous_D154D,Synonymous_D154D rs7515488 1 1163804 [T/C] NM_016547,NM_016176 SDF4,SDF4 Silent,Silent exm1872 1 1163881 [T/C] NM_016547,NM_016176 SDF4,SDF4 EXON Missense_R98Q,Missense_R98Q exm1885 1 1164015 [A/C] NM_016547,NM_016176 SDF4,SDF4 EXON Missense_E53D,Missense_E53D exm1886 1 1164018 [G/C] NM_016547,NM_016176 SDF4,SDF4 EXON Missense_E52D,Missense_E52D exm1890 1 1164065 [A/G] NM_016547,NM_016176 SDF4,SDF4 EXON Missense_R37W,Missense_R37W exm1892 1 1164073 [A/G] NM_016547,NM_016176 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 rs4018608 1 1203938 [T/C] NM_194458,NM_058167,NM_194457,NM_194315 UBE2J2,UBE2J2,UBE2J2,UBE2J2 Silent,Silent,Silent,Silent 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 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 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 rs3737721 1 1227897 [A/G] NM_030649 ACAP3 EXON Silent 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 rs12410087 1 1239935 [A/C] NM_030649 ACAP3 Silent 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 newrs143765035 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 variant.153 1 1246068 [T/G] NM_153339 PUSL1 EXON Missense_Q233H variant.154 1 1246069 [A/G] NM_153339 PUSL1 Silent 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 newrs140444081 1 1246451 [A/G] NM_153339 PUSL1 EXON Missense_G288S exm2524 1 1246749 [A/G] NM_153339 PUSL1 EXON Missense_S301N exm2539 1 1247454 [T/C] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Missense_A532T,Missense_A460T,Missense_A567T,Missense_A561T,Missense_A463T exm2542 1 1247469 [T/C] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Missense_V527I,Missense_V455I,Missense_V562I,Missense_V556I,Missense_V458I exm2249776 1 1247626 [A/G] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Synonymous_R500R,Synonymous_R428R,Synonymous_R535R,Synonymous_R529R,Synonymous_R431R exm2556 1 1247736 [T/C] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Missense_V464M,Missense_V392M,Missense_V499M,Missense_V493M,Missense_V395M exm2562 1 1247820 [A/G] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Synonymous_S459S,Synonymous_S387S,Synonymous_S494S,Synonymous_S488S,Synonymous_S390S exm2249777 1 1247826 [T/C] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Synonymous_K457K,Synonymous_K385K,Synonymous_K492K,Synonymous_K486K,Synonymous_K388K exm2571 1 1248041 [A/G] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Missense_T416M,Missense_T344M,Missense_T451M,Missense_T445M,Missense_T347M exm2249779 1 1248046 [T/C] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Synonymous_T414T,Synonymous_T342T,Synonymous_T449T,Synonymous_T443T,Synonymous_T345T exm2589 1 1248323 [T/C] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Missense_V351I,Missense_V279I,Missense_V386I,Missense_V380I,Missense_V282I exm2590 1 1248329 [A/G] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Synonymous_L349L,Synonymous_L277L,Synonymous_L384L,Synonymous_L378L,Synonymous_L280L indel.166 1 1249193 [D/I] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON exm2624 1 1250209 [A/C] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Missense_G204W,Missense_G132W,Missense_G239W,Missense_G233W,Missense_G135W exm2230965 1 1250268 [G/C] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Missense_S184C,Missense_S112C,Missense_S219C,Missense_S213C,Missense_S115C variant.168 1 1250794 [A/G] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Nonsense_R156X,Nonsense_R84X,Nonsense_R191X,Nonsense_R185X,Nonsense_R87X indel.169 1 1250804 [I/D] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON exm2656 1 1254678 [A/G] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Nonsense_Q114X,Silent,Nonsense_Q149X,Nonsense_Q143X,Silent exm2249782 1 1254694 [A/G] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Synonymous_H108H,Silent,Synonymous_H143H,Synonymous_H137H,Silent exm2659 1 1254777 [T/C] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Missense_I81V,Silent,Missense_I116V,Missense_I110V,Silent exm2676 1 1256453 [A/G] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L EXON Silent,Nonsense_R17X,Nonsense_R23X,Nonsense_R17X,Silent rs3845293 1 1258246 [A/C] NM_001256460,NM_001256463,NM_001256456,NM_017871,NM_001256462 CPSF3L,CPSF3L,CPSF3L,CPSF3L,CPSF3L Silent,Silent,Silent,Silent,Silent 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 rs307354 1 1264539 [C/G] 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 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 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 rs307380 1 1287127 [A/G] 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 rs17160669 1 1305561 [T/C] 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 indel.203 1 1322718 [D/I] NM_030937 CCNL2 EXON 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 1KG_1_1323216 1 1323216 [I/D] NM_030937 CCNL2 EXON 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 rs1240707 1 1335302 [T/C] NR_015434 LOC148413 Silent rs1240708 1 1335790 [A/G] NR_015434 LOC148413 Silent exm3329 1 1337481 [T/G] NM_017971 MRPL20 EXON Missense_R144S exm3332 1 1337539 [T/A] NM_017971 MRPL20 EXON Missense_H125L variant.210 1 1341171 [T/C] NM_017971 MRPL20 Silent exm3336 1 1341206 [T/C] NM_017971 MRPL20 EXON Missense_I87V exm3350 1 1354515 [C/G] NM_001243536,NM_001243535,NM_001145210 ANKRD65,ANKRD65,ANKRD65 EXON Silent,Silent,Missense_E389Q exm3352 1 1354538 [A/G] NM_001243536,NM_001243535,NM_001145210 ANKRD65,ANKRD65,ANKRD65 EXON Silent,Silent,Missense_A381V exm3367 1 1354844 [T/C] NM_001243536,NM_001243535,NM_001145210 ANKRD65,ANKRD65,ANKRD65 EXON Silent,Missense_E99K,Missense_R279Q exm3369 1 1354920 [A/C] NM_001243536,NM_001243535,NM_001145210 ANKRD65,ANKRD65,ANKRD65 EXON Silent,Missense_R73S,Missense_V254L exm3377 1 1356330 [C/G] NM_001243536,NM_001243535,NM_001145210 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 rs873927 1 1366830 [A/G] exm3397 1 1372441 [T/G] NM_022834,NM_199121 VWA1,VWA1 EXON Missense_A70S,Silent exm3418 1 1372690 [T/C] NM_022834,NM_199121 VWA1,VWA1 EXON Missense_P153S,Silent exm3425 1 1372743 [T/C] NM_022834,NM_199121 VWA1,VWA1 EXON Synonymous_T170T,Missense_R39W exm3426 1 1372750 [A/G] NM_022834,NM_199121 VWA1,VWA1 EXON Missense_G173S,Missense_R41K exm3458 1 1386089 [T/C] NM_001039211 ATAD3C EXON Missense_A9V exm3468 1 1387747 [T/C] NM_001039211 ATAD3C EXON Missense_A52V rs36044796 1 1388268 [A/C] NM_001039211 ATAD3C Silent 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 rs819980 1 1425700 [T/C] NM_031921 ATAD3B EXON Synonymous_I467I 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 rs6690515 1 1447325 [A/G] rs6669795 1 1450947 [A/C] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A Silent,Silent,Silent 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 rs12032637 1 1465382 [A/G] NM_001170535,NM_018188,NM_001170536 ATAD3A,ATAD3A,ATAD3A Silent,Silent,Silent 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 exm3904 1 1470807 [T/C] NM_001114748 TMEM240 EXON Missense_A152T exm3908 1 1471017 [T/C] NM_001114748 TMEM240 EXON Missense_G109S rs1571149 1 1474167 [A/G] NM_001114748 TMEM240 Silent exm3923 1 1477537 [A/G] NM_014188 SSU72 EXON Missense_T165M rs2031709 1 1485984 [A/C] NM_014188 SSU72 Silent rs7531530 1 1489670 [T/C] NM_014188 SSU72 Silent rs6604983 1 1521595 [A/G] exm3957 1 1550992 [A/C] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686 MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Nonsense_C51X,Nonsense_C51X,Nonsense_C51X,Nonsense_C51X exm3962 1 1551927 [T/C] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_F72L,Missense_F72L,Missense_F72L,Missense_F72L,Silent exm3966 1 1551952 [A/G] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_R80K,Missense_R80K,Missense_R80K,Missense_R80K,Silent exm3970 1 1558782 [T/C] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_R99W,Silent,Missense_R99W,Missense_R99W,Silent exm3973 1 1558792 [T/C] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_M102T,Silent,Missense_M102T,Missense_M102T,Silent exm4002 1 1559297 [A/G] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_D246N,Missense_D232N,Missense_D246N,Missense_D246N,Missense_D131N rs28635343 1 1560103 [T/C] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 Silent,Silent,Silent,Silent,Silent,Silent exm4035 1 1560966 [A/G] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_R352H,Missense_R403H,Missense_R417H,Missense_R413H,Missense_R237H exm4046 1 1562091 [A/G] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_R395Q,Missense_R446Q,Missense_R460Q,Missense_R456Q,Missense_R280Q exm4067 1 1562576 [T/C] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_R505C,Missense_R556C,Missense_R570C,Missense_R566C,Missense_R390C exm2250001 1 1562786 [T/C] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Synonymous_D545D,Synonymous_D596D,Synonymous_D610D,Synonymous_D606D,Synonymous_D430D exm4087 1 1563100 [T/C] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_A574V,Missense_A625V,Missense_A639V,Missense_A635V,Missense_A459V exm4089 1 1563105 [A/G] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_A576T,Missense_A627T,Missense_A641T,Missense_A637T,Missense_A461T exm4090 1 1563109 [T/C] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_I577T,Missense_I628T,Missense_I642T,Missense_I638T,Missense_I462T exm4091 1 1563121 [A/G] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_Q581R,Missense_Q632R,Missense_Q646R,Missense_Q642R,Missense_Q466R exm4093 1 1563171 [C/G] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_R598G,Missense_R649G,Missense_R663G,Missense_R659G,Missense_R483G exm4107 1 1563492 [A/G] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_D642N,Missense_D693N,Missense_D707N,Missense_D703N,Missense_D527N exm4117 1 1563691 [T/G] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_V677G,Missense_V728G,Missense_V742G,Missense_V738G,Missense_V562G exm4119 1 1563707 [C/G] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_E682D,Missense_E733D,Missense_E747D,Missense_E743D,Missense_E567D exm4134 1 1564064 [A/G] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_A772T,Missense_A823T,Missense_A837T,Missense_A833T,Missense_A657T exm4160 1 1565032 [A/G] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Synonymous_R909R,Synonymous_R960R,Synonymous_R974R,Synonymous_R970R,Missense_D734N exm4171 1 1565891 [A/G] NR_033183,NM_001170688,NM_001170687,NM_080875,NM_001170686,NM_001170689 MIB2,MIB2,MIB2,MIB2,MIB2,MIB2 EXON Silent,Missense_R1000H,Missense_R1051H,Missense_R1065H,Missense_R1061H,Silent rs28464684 1 1566160 [T/C] exm2250017 1 1572310 [T/C] NM_033493,NM_033492,NM_033488,NM_033487,NM_033486,NM_033489 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B EXON Synonymous_P570P,Synonymous_P579P,Synonymous_P536P,Synonymous_P327P,Synonymous_P581P,Synonymous_P547P exm4276 1 1597351 [T/C] NM_033493,NM_033492,NM_033488,NM_033487,NM_033486,NM_033489,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_033488,NM_033487,NM_033486,NM_033489,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_033488,NM_033487,NM_033486,NM_033489,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_033488,NM_033487,NM_033486,NM_033489,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_P256L variant.241 1 1601537 [A/G] NM_033493,NM_033492,NM_033488,NM_033487,NM_033486,NM_033489,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_S254L exm4297 1 1603011 [A/G] NM_033493,NM_033492,NM_033488,NM_033487,NM_033486,NM_033489,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_033488,NM_033487,NM_033486,NM_033489,NM_001110781 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,SLC35E2B Silent,Silent,Silent,Silent,Silent,Silent,Silent var_1_1635271 1 1635272 [I/D] NM_033493,NM_033492,NM_033488,NM_033487,NM_033486,NM_033489,NM_024011,NM_033529 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A EXON rs909823 1 1647686 [A/C] NM_033493,NM_033492,NM_033488,NM_033487,NM_033486,NM_033489,NM_024011,NM_033529 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent var_1_1647780 1 1647780 [T/C] NM_033493,NM_033492,NM_033488,NM_033487,NM_033486,NM_033489,NM_024011,NM_033529 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.249 1 1647786 [I/D] NM_033493,NM_033492,NM_033488,NM_033487,NM_033486,NM_033489,NM_024011,NM_033529 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A EXON var_1_1647858 1 1647858 [A/G] NM_033493,NM_033492,NM_033488,NM_033487,NM_033486,NM_033489,NM_024011,NM_033529 CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11B,CDK11A,CDK11A EXON Nonsense_Q128X,Nonsense_Q128X,Nonsense_Q94X,Silent,Nonsense_Q139X,Nonsense_Q105X,Nonsense_Q139X,Nonsense_Q129X rs3817856 1 1663831 [T/C] NM_001199787,NM_182838 SLC35E2,SLC35E2 EXON Silent,Silent exm4428 1 1663944 [A/G] NM_001199787,NM_182838 SLC35E2,SLC35E2 EXON Silent,Nonsense_R251X rs2294488 1 1664019 [T/C] NM_001199787,NM_182838 SLC35E2,SLC35E2 Silent,Silent exm2268858 1 1664124 [T/C] NM_001199787,NM_182838 SLC35E2,SLC35E2 Silent,Silent rs7407 1 1684472 [T/C] NM_001198994,NM_001198995,NM_001198993,NM_023018 NADK,NADK,NADK,NADK EXON Synonymous_P549P,Synonymous_P372P,Synonymous_P404P,Synonymous_P404P exm4494 1 1686024 [T/C] NM_001198994,NM_001198995,NM_001198993,NM_023018 NADK,NADK,NADK,NADK EXON Missense_G413S,Missense_G236S,Missense_G268S,Missense_G268S exm4499 1 1686063 [T/C] NM_001198994,NM_001198995,NM_001198993,NM_023018 NADK,NADK,NADK,NADK EXON Missense_V400M,Missense_V223M,Missense_V255M,Missense_V255M exm4503 1 1686081 [A/G] NM_001198994,NM_001198995,NM_001198993,NM_023018 NADK,NADK,NADK,NADK EXON Missense_R394W,Missense_R217W,Missense_R249W,Missense_R249W exm4504 1 1686087 [C/G] NM_001198994,NM_001198995,NM_001198993,NM_023018 NADK,NADK,NADK,NADK EXON Missense_E392Q,Missense_E215Q,Missense_E247Q,Missense_E247Q exm4505 1 1686116 [T/C] NM_001198994,NM_001198995,NM_001198993,NM_023018 NADK,NADK,NADK,NADK EXON Missense_R382Q,Missense_R205Q,Missense_R237Q,Missense_R237Q exm4520 1 1688005 [A/G] NM_001198994,NM_001198995,NM_001198993,NM_023018 NADK,NADK,NADK,NADK EXON Missense_P291S,Missense_P114S,Missense_P146S,Missense_P146S exm4521 1 1688096 [T/C] NM_001198994,NM_001198995,NM_001198993,NM_023018 NADK,NADK,NADK,NADK EXON Synonymous_P260P,Silent,Silent,Silent exm4526 1 1688550 [T/C] NM_001198994,NM_001198995,NM_001198993,NM_023018 NADK,NADK,NADK,NADK EXON Missense_A259T,Silent,Silent,Silent exm1733478 1 1688579 [A/C] NM_001198994,NM_001198995,NM_001198993,NM_023018 NADK,NADK,NADK,NADK EXON Missense_G249V,Silent,Silent,Silent exm4527 1 1688694 [T/C] NM_001198994,NM_001198995,NM_001198993,NM_023018 NADK,NADK,NADK,NADK EXON Missense_V211I,Missense_V75I,Missense_V107I,Missense_V107I exm4538 1 1690544 [T/C] NM_001198994,NM_001198993,NM_023018 NADK,NADK,NADK EXON Missense_T191A,Silent,Silent exm4543 1 1690621 [A/G] NM_001198994,NM_001198993,NM_023018 NADK,NADK,NADK EXON Missense_P165L,Silent,Silent exm4548 1 1691176 [T/G] NM_001198994,NM_001198993,NM_023018 NADK,NADK,NADK EXON Missense_E143D,Silent,Silent exm4550 1 1691199 [T/C] NM_001198994,NM_001198993,NM_023018 NADK,NADK,NADK EXON Missense_G136S,Silent,Silent exm4570 1 1696761 [T/C] NM_001198994,NM_001198993,NM_023018 NADK,NADK,NADK EXON Missense_D29N,Missense_D29N,Missense_D29N rs6603811 1 1706136 [T/C] NM_001198994,NM_001198993,NM_023018 NADK,NADK,NADK Silent,Silent,Silent rs12041925 1 1707740 [T/G] NM_001198994,NM_001198993,NM_023018 NADK,NADK,NADK Silent,Silent,Silent rs742359 1 1715011 [A/C] exm2250243 1 1720670 [A/G] NM_002074 GNB1 EXON Synonymous_D246D exm4614 1 1756864 [T/C] NM_002074 GNB1 EXON Missense_E10G rs4648727 1 1776269 [A/C] NM_002074 GNB1 Silent rs3855951 1 1804302 [T/C] NM_002074 GNB1 Silent rs7525092 1 1810090 [T/C] NM_002074 GNB1 Silent rs6603802 1 1812521 [T/C] NM_002074 GNB1 Silent rs16824526 1 1818129 [A/C] NM_002074 GNB1 Silent rs2247560 1 1846765 [A/G] NM_138705 CALML6 Silent rs28710181 1 1847531 [T/C] NM_138705 CALML6 Silent 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 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 rs28508199 1 1852484 [A/G] rs2250833 1 1854321 [A/G] indel.273 1 1857349 [I/D] rs2803316 1 1865298 [A/G] 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 rs3820011 1 1888193 [A/C] NM_001080484 KIAA1751 EXON Missense_G628C exm4882 1 1890559 [T/C] NM_001080484 KIAA1751 EXON Synonymous_S617S variant.277 1 1890609 [A/G] NM_001080484 KIAA1751 EXON Nonsense_Q601X 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 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 rs16824588 1 1900232 [T/C] NM_001080484 KIAA1751 EXON Missense_I363V 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 rs3795283 1 1916587 [T/G] NM_001080484 KIAA1751 Silent 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 rs6605081 1 1930754 [T/C] NM_001080484 KIAA1751 Silent rs6656398 1 1941929 [A/G] rs13303016 1 1946591 [A/G] 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 rs2376803 1 1967954 [T/C] exm5157 1 1986954 [A/G] NM_002744 PRKCZ EXON Missense_R49H rs6605074 1 1992748 [T/C] NM_002744 PRKCZ Silent rs6663158 1 2004098 [A/G] NM_002744 PRKCZ Silent rs2803310 1 2017297 [T/C] NM_002744,NM_001033581,NM_001242874 PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent rs2459994 1 2024064 [T/C] NM_002744,NM_001033581,NM_001242874 PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent rs884080 1 2026749 [A/G] NM_002744,NM_001033581,NM_001242874 PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent rs7513222 1 2027901 [A/G] NM_002744,NM_001033581,NM_001242874 PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent rs10910030 1 2035684 [T/C] NM_002744,NM_001033581,NM_001242874 PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent rs12410859 1 2038732 [T/C] NM_002744,NM_001033581,NM_001242874,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent rs4648807 1 2040898 [T/C] NM_002744,NM_001033581,NM_001242874,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent rs4648808 1 2040936 [T/C] NM_002744,NM_001033581,NM_001242874,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent indel.294 1 2066702 [I/D] NM_002744,NM_001033581,NM_001242874,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON 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 rs424079 1 2071340 [A/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 rs2257182 1 2082566 [T/C] NM_002744,NM_001033581,NM_001242874,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent rs262643 1 2100840 [T/C] NM_002744,NM_001033581,NM_001242874,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ Silent,Silent,Silent,Silent 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 variant.297 1 2106745 [A/G] NM_002744,NM_001033581,NM_001242874,NM_001033582 PRKCZ,PRKCZ,PRKCZ,PRKCZ EXON Nonsense_W523X,Nonsense_W340X,Nonsense_W419X,Nonsense_W340X 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 indel.298 1 2116849 [I/D] NM_001146310,NR_046425,NM_001256945,NR_046426 C1orf86,C1orf86,C1orf86,C1orf86 EXON exm5277 1 2125086 [G/C] NM_001146310,NR_046425,NM_001256945,NR_046426,NM_001256947,NR_046427,NR_046424,NM_182533,NM_001256946 C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86 EXON Missense_S150W,Silent,Missense_S109W,Silent,Missense_S109W,Silent,Silent,Missense_F154L,Missense_F154L exm5285 1 2125205 [A/C] NM_001146310,NR_046425,NM_001256945,NR_046426,NM_001256947,NR_046427,NR_046424,NM_182533,NM_001256946 C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86 EXON Synonymous_P110P,Silent,Synonymous_P69P,Silent,Synonymous_P69P,Silent,Silent,Missense_A115S,Missense_A115S exm5287 1 2125275 [T/C] NM_001146310,NR_046425,NM_001256945,NR_046426,NM_001256947,NR_046427,NR_046424,NM_182533,NM_001256946 C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86,C1orf86 EXON Missense_R87H,Silent,Missense_R46H,Silent,Missense_R46H,Silent,Silent,Synonymous_P91P,Synonymous_P91P exm5301 1 2125543 [A/G] NM_001146310,NR_046425,NM_001256945,NR_046426,NM_001256947,NR_046427,NR_046424,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 rs7512482 1 2146966 [T/C] rs2460000 1 2156362 [A/G] exm5336 1 2160845 [A/G] NM_003036 SKI EXON Missense_S214G rs263526 1 2173504 [T/C] NM_003036 SKI Silent rs260513 1 2180524 [A/G] NM_003036 SKI Silent rs12084736 1 2189580 [T/C] NM_003036 SKI Silent rs903908 1 2202967 [T/C] NM_003036 SKI Silent rs10910047 1 2211849 [A/G] NM_003036 SKI Silent rs2017143 1 2220649 [T/C] NM_003036 SKI Silent rs884940 1 2223866 [T/C] NM_003036 SKI Silent 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 rs12082516 1 2251160 [T/C] 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 rs2645065 1 2261222 [A/C] NM_024848 MORN1 Silent rs903904 1 2263888 [T/C] NM_024848 MORN1 Silent 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 rs2055204 1 2280661 [A/G] NM_024848 MORN1 Silent rs7527871 1 2281726 [A/C] NM_024848 MORN1 Silent rs4648831 1 2283117 [T/C] NM_024848,NR_024489 MORN1,LOC100129534 EXON Silent,Silent rs2843130 1 2283313 [G/C] NM_024848,NR_024489 MORN1,LOC100129534 EXON Silent,Silent rs2840528 1 2283896 [A/G] NM_024848,NR_024489 MORN1,LOC100129534 EXON Silent,Silent rs2645082 1 2284003 [T/C] NM_024848,NR_024489 MORN1,LOC100129534 EXON Silent,Silent rs3795272 1 2284195 [T/C] NM_024848 MORN1 Silent 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 indel.309 1 2290107 [D/I] NM_024848 MORN1 EXON 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 rs2279703 1 2306695 [T/C] NM_024848 MORN1 Silent rs2843160 1 2309082 [T/G] NM_024848 MORN1 Silent 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 rs3736330 1 2327075 [T/C] NM_007033 RER1 Silent exm2268641 1 2327815 [T/C] NM_007033 RER1 Silent rs6693447 1 2330190 [T/G] NM_007033 RER1 Silent variant.313 1 2330953 [A/G] NM_007033 RER1 EXON Missense_D96N exm5594 1 2338015 [T/C] NM_153818,NM_002617 PEX10,PEX10 EXON Missense_T294A,Missense_T274A exm5596 1 2338023 [A/G] NM_153818,NM_002617 PEX10,PEX10 EXON Missense_P291L,Missense_P271L exm5606 1 2338223 [C/G] NM_153818,NM_002617 PEX10,PEX10 EXON Missense_G258R,Missense_G238R exm5616 1 2338361 [T/C] NM_153818,NM_002617 PEX10,PEX10 EXON Missense_M212V,Silent rs2494427 1 2338569 [T/C] NM_153818,NM_002617 PEX10,PEX10 Silent,Silent exm5618 1 2339908 [A/G] NM_153818,NM_002617 PEX10,PEX10 EXON Missense_L195F,Missense_L195F exm5631 1 2340159 [A/G] NM_153818,NM_002617 PEX10,PEX10 EXON Missense_L111P,Missense_L111P rs3935659 1 2351699 [T/C] rs12731309 1 2352146 [T/C] rs10797423 1 2358944 [A/C] rs7515934 1 2359940 [T/C] rs2494641 1 2362827 [T/C] rs6659405 1 2373089 [T/G] rs4648845 1 2387101 [T/C] rs2477686 1 2392648 [C/G] rs4648636 1 2394226 [T/G] 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 rs10910082 1 2418935 [T/C] NM_014638 PLCH2 Silent 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 rs1107685 1 2439191 [A/G] 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 rs2247308 1 2445406 [A/G] NM_018216 PANK4 Silent 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 indel.338 1 2450734 [D/I] NM_018216 PANK4 EXON 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 rs2494625 1 2454709 [T/C] NM_018216 PANK4 Silent exm2250972 1 2461316 [T/C] NM_001010926 HES5 EXON Synonymous_E63E rs11584295 1 2465329 [A/G] rs2495368 1 2473258 [A/G] 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 rs2234167 1 2494330 [A/G] NM_003820 TNFRSF14 EXON Missense_V241I rs6667605 1 2502780 [T/C] exm-rs734999 1 2513216 [T/C] exm6165 1 2518683 [T/C] NR_036638,NR_036637,NM_001195738,NM_001195741,NM_001195740,NM_152371,NM_001195736,NM_001195737 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_001195738,NM_001195741,NM_001195740,NM_152371,NM_001195736,NM_001195737 FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_P161T exm6175 1 2519989 [T/G] NR_036638,NR_036637,NM_001195738,NM_001195741,NM_001195740,NM_152371,NM_001195736,NM_001195737 FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B EXON Silent,Silent,Missense_A159S,Silent,Silent,Missense_A159S,Missense_A177S,Missense_R165S exm6185 1 2520428 [A/C] NR_036638,NR_036637,NM_001195738,NM_001195741,NM_001195740,NM_152371,NM_001195736,NM_001195737 FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B,FAM213B EXON Silent,Silent,Missense_P196T,Synonymous_I169I,Synonymous_I170I,Synonymous_I206I,Synonymous_I224I,Synonymous_I202I exm6198 1 2522473 [A/G] NR_036638,NR_036637,NM_001195738,NM_001195741,NM_001195740,NM_152371,NM_001195736,NM_001195737,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 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 rs3748816 1 2526746 [A/G] NM_033467 MMEL1 EXON Missense_M518T rs2843401 1 2528133 [T/C] NM_033467 MMEL1 Silent exm6296 1 2530169 [T/G] NM_033467 MMEL1 EXON Missense_P368T indel.358 1 2530212 [D/I] NM_033467 MMEL1 EXON variant.359 1 2530219 [T/C] NM_033467 MMEL1 EXON Nonsense_W351X 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 rs10752748 1 2544640 [A/G] NM_033467 MMEL1 Silent rs12117343 1 2551785 [T/C] NM_033467 MMEL1 Silent 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 kgp10938344 1 2564465 [T/C] NM_033467 MMEL1 EXON Silent rs4648390 1 2700372 [T/C] NM_001242672 TTC34 Silent rs2377041 1 2713327 [T/C] rs4648384 1 2756621 [A/C] rs1456460 1 2761863 [T/G] rs12409348 1 2779043 [T/C] rs897636 1 2784092 [A/G] rs10909793 1 2794551 [T/G] rs10797342 1 2797856 [T/C] rs3100865 1 2806107 [T/G] exm2268859 1 2806107 [T/G] rs2842910 1 2817421 [T/C] rs7340016 1 2833332 [A/G] rs4648432 1 2839757 [A/C] rs2045331 1 2842270 [A/G] rs12403214 1 2849190 [T/G] rs4648441 1 2850181 [T/G] rs10797368 1 2852707 [T/C] rs16823228 1 2853759 [A/G] rs7539511 1 2862320 [T/G] rs2606418 1 2870850 [A/G] rs2485944 1 2883858 [T/C] rs2485945 1 2883932 [T/C] rs12044030 1 2889577 [T/C] rs12046158 1 2891713 [T/C] rs6681741 1 2898960 [T/C] rs12025260 1 2917377 [T/C] rs12022429 1 2919942 [A/G] rs12562637 1 2924666 [T/C] rs4576609 1 2938265 [T/C] NM_080431 ACTRT2 EXON Synonymous_H5H 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 rs12564513 1 2939409 [T/G] NM_080431 ACTRT2 EXON Silent rs7412983 1 2943183 [A/C] rs2142569 1 2944527 [A/G] rs717795 1 2970464 [T/C] rs760567 1 3000465 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6695131 1 3000924 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs926244 1 3006283 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7543737 1 3009969 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2817168 1 3013690 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2993493 1 3020246 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs1890336 1 3024265 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6690373 1 3035227 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2817178 1 3047252 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs10909882 1 3049713 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2235176 1 3054106 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs731031 1 3072692 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2651902 1 3074306 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2742673 1 3080019 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2651899 1 3083712 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm-rs2651899 1 3083712 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7518255 1 3086464 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2651935 1 3086496 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2651927 1 3101762 [A/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 rs10752733 1 3104630 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7539775 1 3109151 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm2260168 1 3111669 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs10909901 1 3131235 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2817146 1 3133439 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6424069 1 3147030 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs10909905 1 3147899 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs11807062 1 3153237 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7539489 1 3169088 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs3002686 1 3178111 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455107 1 3180158 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455125 1 3189006 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs905135 1 3199484 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs4648377 1 3211458 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455144 1 3214732 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455137 1 3217151 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2455135 1 3219901 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6673393 1 3220101 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs12743017 1 3229185 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483266 1 3236041 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2500271 1 3241829 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483274 1 3248098 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483279 1 3252169 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7516150 1 3253889 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7552331 1 3253941 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs882430 1 3259113 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2483289 1 3264190 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs7524171 1 3279324 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm-rs6658356 1 3280253 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs4648487 1 3285304 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs1538693 1 3294972 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent exm2263811 1 3297799 [A/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs17399998 1 3305016 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs2493278 1 3307746 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs871822 1 3312914 [T/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs6424074 1 3317780 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs11578011 1 3318532 [T/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 rs2483225 1 3325037 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent 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 rs2244013 1 3342530 [A/G] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent 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 rs2493272 1 3349513 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 Silent,Silent rs1537406 1 3352227 [T/C] NM_022114,NM_199454 PRDM16,PRDM16 EXON Silent,Silent rs867814 1 3362256 [T/C] rs2487670 1 3368143 [A/G] rs2487680 1 3377442 [T/C] NM_014448 ARHGEF16 Silent 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 rs12124163 1 3393037 [T/G] NM_014448 ARHGEF16 Silent 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 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 rs7553399 1 3416449 [A/C] NM_001409 MEGF6 EXON Missense_R916L 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 rs2821008 1 3421897 [A/G] NM_001409 MEGF6 EXON Missense_L688P exm6998 1 3421897 [A/G] NM_001409 MEGF6 EXON Missense_L688P rs947344 1 3423467 [T/C] NM_001409 MEGF6 Silent 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 rs10797400 1 3450637 [A/C] NM_001409 MEGF6 Silent rs12119711 1 3451005 [T/C] NM_001409 MEGF6 Silent rs2821060 1 3477902 [T/C] NM_001409 MEGF6 Silent rs2821054 1 3493850 [T/G] NM_001409 MEGF6 Silent exm7145 1 3496479 [T/C] NM_001409 MEGF6 EXON Missense_S131G rs10909974 1 3499067 [T/C] NM_001409 MEGF6 Silent rs2995009 1 3500575 [A/G] NM_001409 MEGF6 Silent rs4648527 1 3507861 [A/G] NM_001409 MEGF6 Silent rs6697749 1 3510633 [A/C] NM_001409 MEGF6 Silent exm7149 1 3511934 [A/G] NM_001409 MEGF6 EXON Missense_M115T exm7155 1 3511994 [T/C] NM_001409 MEGF6 EXON Missense_G95D rs2821017 1 3520871 [A/G] NM_001409 MEGF6 Silent rs35701577 1 3522561 [T/C] NM_001409 MEGF6 Silent rs4364818 1 3538501 [T/C] rs10909990 1 3539481 [A/G] rs12757620 1 3540024 [T/G] exm7185 1 3542306 [A/G] NM_182752 TPRG1L EXON Missense_R108Q exm7186 1 3542312 [T/G] NM_182752 TPRG1L EXON Missense_V110G indel.400 1 3542386 [I/D] NM_182752 TPRG1L EXON variant.402 1 3542458 [A/G] NM_182752 TPRG1L Silent rs16823920 1 3542969 [A/G] NM_182752 TPRG1L Silent variant.403 1 3544065 [T/C] NM_182752 TPRG1L EXON Nonsense_R158X exm7204 1 3544991 [G/C] NM_182752 TPRG1L EXON Missense_L215V variant.405 1 3544995 [T/G] NM_182752 TPRG1L EXON Nonsense_L216X exm7205 1 3545054 [A/G] NM_182752 TPRG1L EXON Missense_V236M rs1128474 1 3545612 [A/G] NM_182752 TPRG1L EXON Silent 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 rs7528494 1 3558228 [T/C] NM_017818 WRAP73 Silent exm7323 1 3564105 [T/C] NM_017818 WRAP73 EXON Missense_R30Q rs10910003 1 3575929 [A/G] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs2224718 1 3576060 [T/C] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs1009345 1 3586428 [A/G] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs3765695 1 3587377 [A/C] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs3765703 1 3592436 [T/G] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs3765716 1 3601940 [A/G] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187 TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent rs3765731 1 3611892 [A/G] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187,NM_001204191,NM_001204189,NM_001126242,NM_001126241,NM_001204190,NM_001126240 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3765736 1 3616601 [T/C] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187,NM_001204191,NM_001204189,NM_001126242,NM_001126241,NM_001204190,NM_001126240,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6424089 1 3628663 [A/G] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187,NM_001204191,NM_001204189,NM_001126242,NM_001126241,NM_001204190,NM_001126240,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3753211 1 3632608 [T/C] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187,NM_001204191,NM_001204189,NM_001126242,NM_001126241,NM_001204190,NM_001126240,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3819967 1 3633380 [T/C] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187,NM_001204191,NM_001204189,NM_001126242,NM_001126241,NM_001204190,NM_001126240,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.409 1 3643747 [D/I] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187,NM_001204191,NM_001204189,NM_001126242,NM_001126241,NM_001204190,NM_001126240,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON exm7380 1 3644322 [A/G] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187,NM_001204191,NM_001204189,NM_001126242,NM_001126241,NM_001204190,NM_001126240,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_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187,NM_001204191,NM_001204189,NM_001126242,NM_001126241,NM_001204190,NM_001126240,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 rs1885865 1 3646291 [A/G] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187,NM_001204191,NM_001204189,NM_001126242,NM_001126241,NM_001204190,NM_001126240,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm7419 1 3648066 [T/C] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187,NM_001204191,NM_001204189,NM_001126242,NM_001126241,NM_001204190,NM_001126240,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Silent,Synonymous_Y412Y,Silent,Missense_F459L,Synonymous_Y508Y,Silent,Synonymous_Y363Y,Silent,Missense_F410L,Silent,Silent,Synonymous_Y459Y,Synonymous_Y437Y rs4648553 1 3648879 [A/G] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187,NM_001204191,NM_001204189,NM_001126242,NM_001126241,NM_001204190,NM_001126240,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1799309 1 3649503 [T/C] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187,NM_001204191,NM_001204189,NM_001126242,NM_001126241,NM_001204190,NM_001126240,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Silent,Missense_R495C,Silent,Silent,Missense_R591C,Missense_R510C,Missense_R446C,Silent,Silent,Silent,Missense_R461C,Missense_R542C,Missense_R520C exm7442 1 3649542 [A/G] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187,NM_001204191,NM_001204189,NM_001126242,NM_001126241,NM_001204190,NM_001126240,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Silent,Missense_G508S,Silent,Silent,Missense_G604S,Missense_G523S,Missense_G459S,Silent,Silent,Silent,Missense_G474S,Missense_G555S,Missense_G533S rs9662633 1 3649562 [A/G] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187,NM_001204191,NM_001204189,NM_001126242,NM_001126241,NM_001204190,NM_001126240,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Silent,Synonymous_A514A,Silent,Silent,Synonymous_A610A,Synonymous_A529A,Synonymous_A465A,Silent,Silent,Silent,Synonymous_A480A,Synonymous_A561A,Synonymous_A539A exm7447 1 3649608 [A/G] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187,NM_001204191,NM_001204189,NM_001126242,NM_001126241,NM_001204190,NM_001126240,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Silent,Missense_I530V,Silent,Silent,Missense_I626V,Missense_I545V,Missense_I481V,Silent,Silent,Silent,Missense_I496V,Missense_I577V,Missense_I555V rs12562437 1 3651031 [T/C] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187,NM_001204191,NM_001204189,NM_001126242,NM_001126241,NM_001204190,NM_001126240,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10910018 1 3651409 [A/G] NM_001204186,NM_001204188,NM_001204184,NM_001204185,NM_005427,NM_001204187,NM_001204191,NM_001204189,NM_001126242,NM_001126241,NM_001204190,NM_001126240,NM_001204192 TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73,TP73 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12117836 1 3657759 [A/G] NR_033708,NR_033709,NR_033711,NR_033712,NR_033710 TP73-AS1,TP73-AS1,TP73-AS1,TP73-AS1,TP73-AS1 Silent,Silent,Silent,Silent,Silent rs2298222 1 3659657 [A/G] NR_033708,NR_033709,NR_033711,NR_033712,NR_033710 TP73-AS1,TP73-AS1,TP73-AS1,TP73-AS1,TP73-AS1 EXON Silent,Silent,Silent,Silent,Silent 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 variant.420 1 3673314 [A/C] NM_152492 CCDC27 EXON Missense_S191R newrs150537276 1 3673329 [T/G] NM_152492 CCDC27 EXON Nonsense_E196X 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 rs1181874 1 3682070 [A/C] NM_152492 CCDC27 Silent 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 variant.429 1 3686357 [T/G] NM_152492 CCDC27 EXON Nonsense_L585X exm7635 1 3688053 [T/G] NM_152492 CCDC27 EXON Missense_L646R exm1799627 1 3688073 [A/G] NM_152492 CCDC27 EXON Missense_G653R rs1175549 1 3691727 [A/C] NM_001163724 SMIM1 Silent exm7645 1 3697669 [C/G] NM_020710 LRRC47 EXON Missense_V579L exm7647 1 3697675 [G/C] NM_020710 LRRC47 EXON Missense_P577A var_1_3698166 1 3698166 [T/C] NM_020710 LRRC47 Silent variant.434 1 3699220 [T/C] NM_020710 LRRC47 Silent 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 rs12728911 1 3709412 [T/C] NM_020710 LRRC47 Silent rs7513053 1 3709487 [A/G] NM_020710 LRRC47 Silent rs6662706 1 3732596 [T/G] NM_014704 CEP104 Silent 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 variant.436 1 3739988 [A/G] NM_014704 CEP104 EXON Missense_P835S exm7767 1 3740068 [T/C] NM_014704 CEP104 EXON Missense_G808E exm1800032 1 3740089 [A/G] NM_014704 CEP104 EXON Missense_T801M rs12759497 1 3742257 [T/C] NM_014704 CEP104 Silent exm7776 1 3742955 [A/G] NM_014704 CEP104 EXON Missense_P745L variant.437 1 3743271 [A/C] NM_014704 CEP104 Silent exm7783 1 3743278 [T/C] NM_014704 CEP104 EXON Missense_N728D rs6663840 1 3743319 [A/G] NM_014704 CEP104 Silent rs2275831 1 3745924 [A/G] NM_014704 CEP104 EXON Missense_A686V 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 rs6424058 1 3747580 [T/C] NM_014704 CEP104 Silent 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 variant.438 1 3751489 [A/G] NM_014704 CEP104 EXON Synonymous_S495S 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 variant.443 1 3755660 [A/C] NM_014704 CEP104 EXON Nonsense_Y253X 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 variant.444 1 3756342 [T/C] NM_014704 CEP104 Silent rs12744607 1 3757749 [A/G] NM_014704 CEP104 Silent exm7891 1 3761485 [T/A] NM_014704 CEP104 EXON Missense_E184D exm7892 1 3761487 [G/C] NM_014704 CEP104 EXON Missense_E184Q variant.445 1 3761541 [A/G] NM_014704 CEP104 EXON Nonsense_R166X 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 rs4648426 1 3773089 [T/C] NM_014704 CEP104 Silent 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 variant.448 1 3784549 [T/C] NM_004402 DFFB EXON Nonsense_R148X indel.451 1 3789042 [I/D] NM_004402 DFFB EXON exm7983 1 3789061 [T/C] NM_004402 DFFB EXON Missense_L236S exm7984 1 3789087 [A/G] NM_004402 DFFB EXON Missense_S245G rs12756705 1 3789852 [T/C] NM_004402 DFFB Silent rs6668103 1 3793324 [A/G] NM_004402 DFFB Silent rs4074709 1 3796948 [T/G] NM_004402 DFFB Silent exm2233302 1 3800118 [A/G] NM_004402 DFFB EXON Missense_K277R exm7994 1 3800297 [T/C] NM_004402 DFFB EXON Missense_R337C rs7367066 1 3803755 [T/C] rs7530189 1 3805098 [T/C] exm8001 1 3806544 [T/C] NM_207356 C1orf174 EXON Missense_D238N variant.453 1 3806595 [A/G] NM_207356 C1orf174 EXON Nonsense_R221X 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 rs12073945 1 3806973 [A/G] NM_207356 C1orf174 Silent indel.454 1 3807229 [I/D] NM_207356 C1orf174 EXON 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 variant.455 1 3807537 [A/G] NM_207356 C1orf174 EXON Nonsense_Q72X exm8044 1 3807590 [T/C] NM_207356 C1orf174 EXON Missense_R54Q exm8045 1 3807593 [G/C] NM_207356 C1orf174 EXON Missense_T53R rs4446914 1 3808362 [A/G] NM_207356 C1orf174 Silent exm8055 1 3809520 [T/C] NM_207356 C1orf174 EXON Missense_R19Q exm8059 1 3809544 [T/C] NM_207356 C1orf174 EXON Missense_R11Q rs11589102 1 3821782 [A/G] NR_024455 LOC100133612 Silent rs10909830 1 3822703 [T/C] NR_024455 LOC100133612 Silent kgp9113347 1 3823395 [T/C] NR_024455 LOC100133612 Silent rs35383955 1 3825525 [T/C] NR_024455 LOC100133612 Silent rs7524279 1 4005693 [A/G] NR_040065 LOC728716 Silent rs7548668 1 4006060 [T/C] NR_040065 LOC728716 Silent rs10799181 1 4009071 [T/C] NR_040065 LOC728716 Silent rs7522140 1 4017137 [T/C] rs12031275 1 4026068 [A/G] rs7550609 1 4026098 [T/C] rs12031557 1 4034097 [A/G] rs10799224 1 4035129 [A/G] exm2268644 1 4037665 [T/C] rs11587331 1 4039896 [T/C] rs6672877 1 4061370 [T/G] rs4128222 1 4066781 [A/C] rs6675979 1 4068052 [A/G] rs4654601 1 4077707 [A/G] rs4129100 1 4078448 [A/G] rs6426436 1 4085098 [A/G] rs10915659 1 4092949 [A/G] rs12036953 1 4104757 [A/G] rs9792946 1 4119662 [A/G] rs4233258 1 4120898 [T/C] rs7524800 1 4121584 [A/G] rs4130940 1 4130348 [A/G] rs10915428 1 4158955 [T/G] rs12077262 1 4170048 [T/C] rs7548756 1 4170249 [A/C] rs10915434 1 4174116 [T/C] rs12040805 1 4180842 [T/C] rs6426389 1 4186309 [T/C] rs10915445 1 4197642 [A/G] rs16840838 1 4201349 [A/G] rs7542208 1 4202818 [A/G] rs9426471 1 4206210 [T/C] rs6683453 1 4210402 [A/G] rs16840866 1 4212493 [A/G] rs9988443 1 4216165 [A/G] rs4614226 1 4221599 [T/C] rs16840873 1 4227320 [A/G] rs12123330 1 4227464 [T/C] rs12743431 1 4234792 [A/G] rs4233264 1 4240178 [T/C] rs11808641 1 4250933 [A/G] rs6687268 1 4263677 [T/C] rs4654512 1 4263997 [A/G] rs12022636 1 4271526 [A/C] rs7553814 1 4271915 [A/G] rs11579829 1 4282786 [T/C] rs903540 1 4284659 [T/C] rs10799218 1 4289899 [T/C] rs6679489 1 4309953 [A/G] exm-rs966321 1 4315204 [T/G] rs2101576 1 4327635 [T/C] rs12087250 1 4328074 [T/C] rs10915494 1 4328476 [T/C] rs903541 1 4335893 [A/G] rs1390136 1 4341843 [T/C] rs16838549 1 4343581 [A/G] rs16838560 1 4351888 [T/C] rs2029490 1 4355593 [A/G] exm2251770 1 4363735 [A/C] rs693734 1 4364226 [T/C] rs351619 1 4368819 [A/G] rs351615 1 4370385 [A/G] rs10915509 1 4375859 [A/C] rs12408012 1 4379687 [A/G] rs351606 1 4384056 [T/C] rs641473 1 4388885 [T/C] rs625079 1 4390289 [T/C] rs685494 1 4397703 [A/C] rs10799228 1 4405998 [A/G] rs600933 1 4409496 [T/C] rs528291 1 4414045 [A/G] rs1531328 1 4418164 [A/G] rs349393 1 4419820 [A/C] rs75411 1 4425414 [T/C] rs12404619 1 4426085 [T/C] rs483344 1 4429462 [A/G] rs1845635 1 4441089 [A/G] rs349413 1 4444706 [A/C] rs7418714 1 4446996 [T/G] rs7521665 1 4456277 [A/G] rs349400 1 4462460 [T/G] rs349401 1 4463585 [T/G] rs4654432 1 4481215 [T/C] NR_027088 LOC284661 Silent rs12029910 1 4488779 [A/G] rs6658372 1 4488979 [A/G] rs6678792 1 4489398 [T/C] rs10915535 1 4491460 [T/G] rs1556691 1 4493215 [A/G] rs1762814 1 4496256 [T/C] rs12731060 1 4500436 [T/C] rs12128230 1 4501911 [A/C] rs780574 1 4502198 [A/G] rs780593 1 4507743 [T/C] rs666152 1 4518202 [T/G] rs12143782 1 4534350 [T/C] exm2260335 1 4541390 [A/C] rs705689 1 4549307 [T/G] rs705690 1 4549380 [A/G] rs1878052 1 4552802 [A/G] rs609506 1 4558933 [T/C] rs582598 1 4561962 [A/C] rs4654441 1 4566515 [A/G] rs1018306 1 4567165 [A/G] rs780568 1 4569834 [A/G] rs1710424 1 4575001 [A/G] rs6703696 1 4578495 [A/G] rs12035830 1 4579733 [A/G] rs518456 1 4582089 [T/G] rs241240 1 4586306 [T/G] rs241239 1 4587177 [A/G] rs12080165 1 4596700 [T/G] rs12726510 1 4598021 [T/C] rs592726 1 4599243 [T/C] exm-rs241257 1 4614822 [T/C] rs4654556 1 4615331 [T/C] rs6685798 1 4618251 [A/G] rs241264 1 4619038 [T/C] rs12120353 1 4620996 [A/C] rs241277 1 4629186 [A/C] rs241278 1 4629408 [T/C] rs1541318 1 4634978 [A/G] rs1157688 1 4636767 [T/C] rs1024139 1 4640902 [T/C] rs619364 1 4646379 [A/G] rs644647 1 4647469 [A/C] rs10915566 1 4648780 [T/C] rs1849943 1 4649316 [A/G] rs537761 1 4662408 [A/C] rs3896439 1 4668670 [A/G] rs4654569 1 4675555 [A/G] rs4654574 1 4679731 [T/C] rs12029673 1 4684090 [A/G] rs1107467 1 4685222 [A/G] rs875807 1 4685672 [A/G] rs12122754 1 4698559 [T/C] rs10915575 1 4701258 [T/C] rs12408160 1 4723046 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs12083131 1 4723818 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs17421247 1 4724957 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs11588149 1 4725496 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs7517857 1 4725585 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs12567266 1 4726454 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs16839422 1 4730964 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs10799256 1 4731689 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs2071990 1 4738058 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs2071995 1 4738678 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs763238 1 4743704 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs6688423 1 4768540 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent 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 rs3753696 1 4776974 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs3820252 1 4784556 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs242044 1 4787119 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs242050 1 4789179 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs409048 1 4805674 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs368808 1 4806381 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs2802720 1 4809120 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs523141 1 4819667 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs12119789 1 4823492 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs12066439 1 4824311 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs426095 1 4828063 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent exm8132 1 4829963 [A/G] NM_018836,NM_001042478 AJAP1,AJAP1 EXON Missense_I294V,Missense_I294V rs9426483 1 4830900 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs423285 1 4831076 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent 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 rs3766977 1 4833498 [T/G] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs399377 1 4835375 [T/C] NM_018836,NM_001042478 AJAP1,AJAP1 Silent,Silent rs9426506 1 4844376 [T/C] rs11805709 1 4847594 [T/C] rs12089516 1 4859727 [A/G] rs4654607 1 4861160 [T/C] rs760817 1 4863913 [T/C] rs10799262 1 4872571 [A/G] rs2050010 1 4880917 [A/C] rs2181699 1 4888012 [T/G] rs10915626 1 4906783 [A/G] rs6683849 1 4908901 [A/G] rs7549868 1 4912726 [A/G] rs6426440 1 4914910 [A/C] rs10915644 1 4927798 [T/C] rs10915645 1 4928187 [T/G] rs753447 1 4939101 [T/C] rs7543026 1 4944842 [A/G] rs6664880 1 4952788 [A/G] rs6426446 1 4955862 [T/C] exm2268645 1 4955862 [T/C] rs6678459 1 4968528 [T/C] rs12034557 1 4971507 [T/C] rs11805753 1 4973107 [T/C] rs10915668 1 4973301 [T/C] rs12035499 1 4980692 [A/G] rs942245 1 4981503 [A/G] rs6666453 1 4987424 [T/G] rs2898853 1 4992204 [T/C] rs10915683 1 4996185 [A/G] rs9286971 1 5003504 [A/G] rs9426490 1 5011402 [A/G] rs10915298 1 5012301 [A/G] rs6656223 1 5015844 [A/G] rs10799145 1 5021200 [T/G] rs12754637 1 5023321 [A/G] rs6702660 1 5023430 [A/G] rs7535462 1 5033661 [A/G] rs12757902 1 5036234 [A/G] rs1563791 1 5043734 [A/C] rs7365286 1 5047163 [T/C] rs6683624 1 5051710 [T/C] rs10158288 1 5061519 [T/C] rs10915310 1 5068210 [A/G] rs1870516 1 5072295 [T/C] rs9286975 1 5073092 [A/G] rs10799152 1 5073658 [A/C] rs1459765 1 5088062 [T/C] rs6693990 1 5094435 [A/G] rs10915324 1 5103621 [A/G] rs10915329 1 5114102 [T/C] rs1563792 1 5124859 [A/G] rs6603832 1 5127543 [A/G] rs11590026 1 5140226 [A/G] rs3128687 1 5141293 [T/G] rs10915341 1 5142552 [T/G] rs6680801 1 5145066 [A/G] rs9803863 1 5158857 [A/G] rs2242157 1 5160662 [T/G] rs10733013 1 5168663 [T/C] exm-rs7513590 1 5170712 [A/G] rs2611424 1 5174078 [A/G] rs6671889 1 5192703 [A/C] rs10492925 1 5195371 [T/C] rs10799173 1 5197977 [T/C] rs12121369 1 5210124 [A/C] rs12027352 1 5211338 [T/C] rs9439511 1 5218601 [T/C] rs16840071 1 5229311 [A/G] rs9286977 1 5233284 [A/C] rs7547229 1 5240211 [T/C] rs12043691 1 5248448 [T/C] rs2722781 1 5257229 [T/C] rs7528871 1 5259095 [A/C] rs6603821 1 5267850 [A/G] rs12140099 1 5270277 [A/G] rs16840190 1 5282726 [T/C] rs7546667 1 5282817 [A/G] rs938962 1 5283942 [T/C] rs4259664 1 5287108 [T/G] rs677735 1 5295176 [A/G] rs2353169 1 5296844 [T/C] rs586165 1 5297887 [T/C] rs12066405 1 5302528 [A/G] rs521430 1 5307076 [T/C] rs7534404 1 5309255 [A/G] rs12135834 1 5309667 [T/C] rs6703948 1 5313445 [A/C] rs630153 1 5321139 [A/G] rs499416 1 5324231 [T/C] rs536995 1 5326050 [T/C] rs579467 1 5329865 [T/C] rs584938 1 5334079 [A/C] rs4847576 1 5335599 [T/C] rs17423547 1 5341464 [T/C] rs12141954 1 5342295 [A/G] rs557477 1 5346474 [T/G] exm2252114 1 5347155 [T/C] rs665471 1 5347457 [T/C] rs10915406 1 5349616 [A/G] rs2353174 1 5350428 [T/C] rs10799191 1 5356607 [A/C] rs12040942 1 5371159 [A/C] rs5026665 1 5374940 [A/G] rs4847569 1 5379624 [T/C] rs2148211 1 5401364 [A/G] rs10915416 1 5403031 [A/G] rs4129058 1 5410542 [T/C] rs11576458 1 5475581 [T/C] rs6603835 1 5475663 [A/C] rs3922826 1 5485177 [T/G] rs10907211 1 5492043 [A/C] rs11260694 1 5514194 [T/C] rs12568815 1 5521691 [T/C] rs7414322 1 5533601 [T/C] rs12045091 1 5547562 [T/C] rs11260698 1 5549525 [T/C] rs2071959 1 5556067 [A/G] rs9661310 1 5561412 [A/G] rs4845816 1 5561478 [A/G] rs9659669 1 5563399 [A/G] rs9729649 1 5572304 [A/G] rs9660967 1 5581798 [T/C] rs7515958 1 5603850 [A/G] rs1935762 1 5616830 [A/G] rs9439613 1 5623965 [T/C] rs904525 1 5635724 [T/C] rs6603844 1 5641064 [A/G] rs1695645 1 5643758 [T/C] rs10907200 1 5646002 [T/C] rs707582 1 5671786 [A/G] rs770718 1 5674434 [T/C] rs9439603 1 5679441 [A/G] rs9439587 1 5679808 [A/G] rs10157819 1 5680572 [A/G] rs945322 1 5684301 [A/C] rs4845793 1 5686915 [A/G] rs6690868 1 5701323 [T/C] rs17028491 1 5703552 [A/G] rs971816 1 5707091 [A/C] rs707589 1 5711647 [T/C] rs707590 1 5712831 [A/G] exm2252278 1 5717388 [T/C] exm2260467 1 5721189 [A/G] rs770721 1 5722405 [A/G] rs707580 1 5724940 [T/C] rs770702 1 5744921 [T/C] rs770705 1 5747184 [T/G] rs770693 1 5765353 [T/C] rs2649078 1 5767805 [A/G] rs1414380 1 5774876 [A/G] rs2244632 1 5780697 [A/G] rs2842258 1 5790498 [A/G] rs2649063 1 5799631 [A/G] rs11260682 1 5805605 [T/C] rs12076190 1 5829039 [T/C] rs4129514 1 5831601 [A/G] rs4845818 1 5861105 [A/G] rs9308476 1 5880466 [A/C] rs1890191 1 5887140 [T/C] rs1698976 1 5900795 [T/C] rs1765719 1 5905929 [T/G] rs11121600 1 5921042 [A/C] 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 rs1287634 1 5925371 [A/G] NM_015102 NPHP4 Silent 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 exm2252388 1 5933384 [C/G] NM_015102 NPHP4 EXON Synonymous_G1081G exm8213 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 rs12735231 1 5946443 [A/G] NM_015102 NPHP4 Silent 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 rs12401883 1 5957601 [T/C] NM_015102 NPHP4 Silent rs2134551 1 5961870 [A/G] NM_015102 NPHP4 Silent 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 rs962662 1 5978510 [A/G] NM_015102 NPHP4 Silent rs7549324 1 5982044 [A/G] NM_015102 NPHP4 Silent rs7535806 1 5983114 [A/G] NM_015102 NPHP4 Silent exm8383 1 5993223 [G/C] NM_015102 NPHP4 EXON Missense_S429T indel.486 1 5993238 [I/D] NM_015102 NPHP4 EXON 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 variant.488 1 6029157 [A/G] NM_015102 NPHP4 EXON Nonsense_Q148X rs11120934 1 6037603 [A/G] NM_015102 NPHP4 Silent 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 variant.490 1 6046217 [A/G] NM_015102 NPHP4 EXON Nonsense_Q45X exm8446 1 6046264 [A/G] NM_015102 NPHP4 EXON Missense_T29M rs806111 1 6053630 [T/G] NM_001199861 KCNAB2 Silent rs546526 1 6070870 [T/C] NM_001199861 KCNAB2 Silent rs1295107 1 6079392 [A/G] NM_001199861 KCNAB2 Silent rs11121065 1 6088364 [A/G] NM_001199861,NM_172130,NM_003636 KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent rs1295094 1 6095199 [A/G] NM_001199861,NM_172130,NM_003636,NM_001199860 KCNAB2,KCNAB2,KCNAB2,KCNAB2 Silent,Silent,Silent,Silent 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 rs3789553 1 6117171 [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 rs4908752 1 6125084 [T/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 rs1883771 1 6129864 [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 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 rs2273042 1 6149122 [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 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 rs3205229 1 6158562 [A/G] NM_001199861,NM_172130,NM_003636,NM_001199860,NM_001199862,NM_001199863 KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2,KCNAB2 EXON Synonymous_S344S,Synonymous_S330S,Synonymous_S344S,Synonymous_S344S,Synonymous_S392S,Synonymous_S277S 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 rs3810993 1 6162583 [A/G] NM_015557 CHD5 EXON Silent 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 rs2785581 1 6177898 [A/G] NM_015557 CHD5 Silent 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 rs2843495 1 6182321 [A/G] NM_015557 CHD5 Silent rs2843494 1 6183926 [T/C] NM_015557 CHD5 Silent exm8644 1 6185909 [T/C] NM_015557 CHD5 EXON Missense_D1363G exm8659 1 6188904 [T/C] NM_015557 CHD5 EXON Missense_V1205M rs9434662 1 6190215 [T/C] NM_015557 CHD5 Silent exm8677 1 6191706 [T/C] NM_015557 CHD5 EXON Missense_I1083V rs2250358 1 6196869 [A/G] NM_015557 CHD5 EXON Synonymous_I831I 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 rs12067480 1 6205349 [T/C] NM_015557 CHD5 Silent 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 rs1883606 1 6207217 [T/C] NM_015557 CHD5 Silent 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 rs9434741 1 6217859 [A/G] NM_015557 CHD5 Silent rs747393 1 6221975 [T/C] NM_015557 CHD5 Silent rs4908863 1 6247066 [T/C] NM_000983 RPL22 Silent rs4908864 1 6263354 [T/C] 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 indel.514 1 6279448 [D/I] NM_207396 RNF207 EXON exm9016 1 6293647 [T/C] NM_012405 ICMT EXON Missense_N114S exm9017 1 6293674 [A/T] NM_012405 ICMT EXON Missense_Y105F variant.516 1 6294941 [T/C] NM_012405 ICMT Silent 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 rs4908543 1 6317983 [T/C] NM_207370 GPR153 Silent exm1857120 1 6324673 [A/G] NM_007274,NM_181866,NM_181864,NM_181865 ACOT7,ACOT7,ACOT7,ACOT7 EXON Missense_A366V,Missense_A325V,Missense_A376V,Missense_A346V rs3789500 1 6352084 [A/G] NM_007274,NM_181866,NM_181864,NM_181865 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs17029372 1 6361437 [T/G] NM_007274,NM_181866,NM_181864,NM_181865 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent exm9186 1 6378607 [A/G] NM_007274,NM_181866,NM_181864,NM_181865 ACOT7,ACOT7,ACOT7,ACOT7 EXON Synonymous_S219S,Synonymous_S178S,Synonymous_S229S,Synonymous_S199S exm2252586 1 6378607 [A/G] NM_007274,NM_181866,NM_181864,NM_181865 ACOT7,ACOT7,ACOT7,ACOT7 EXON Synonymous_S219S,Synonymous_S178S,Synonymous_S229S,Synonymous_S199S rs6577570 1 6387276 [A/G] NM_007274,NM_181866,NM_181864,NM_181865 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs742505 1 6408060 [T/C] NM_007274,NM_181866,NM_181864,NM_181865 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent exm2233698 1 6409810 [A/C] NM_007274,NM_181866,NM_181864,NM_181865 ACOT7,ACOT7,ACOT7,ACOT7 EXON Missense_G87V,Missense_G46V,Missense_G97V,Missense_G67V rs3827718 1 6411024 [A/G] NM_007274,NM_181866,NM_181864,NM_181865 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent rs7515832 1 6418218 [A/C] NM_007274,NM_181866,NM_181864,NM_181865 ACOT7,ACOT7,ACOT7,ACOT7 Silent,Silent,Silent,Silent exm9222 1 6420661 [A/C] NM_007274,NM_181864,NM_181865 ACOT7,ACOT7,ACOT7 EXON Silent,Silent,Missense_D18Y rs4582826 1 6461530 [T/C] rs17026985 1 6465054 [A/G] rs11485227 1 6474008 [T/C] exm9255 1 6479372 [A/G] NM_019089 HES2 EXON Missense_A57V exm9256 1 6479393 [T/C] NM_019089 HES2 EXON Missense_N50S exm9279 1 6488328 [T/C] NM_031475 ESPN EXON Missense_R113C rs2103673 1 6494399 [T/C] NM_031475 ESPN Silent rs10864548 1 6501796 [T/C] NM_031475 ESPN Silent 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_148970,NM_148967,NM_148966,NM_003790,NM_148965 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Missense_P71R,Missense_P209R,Missense_P217R,Missense_P254R,Missense_P263R exm9445 1 6522724 [T/C] NM_148970,NM_148967,NM_148966,NM_003790,NM_148965 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Silent,Missense_D192N,Silent,Missense_D237N,Missense_D246N exm9447 1 6522961 [A/G] NM_148970,NM_148967,NM_148966,NM_003790,NM_148965 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Silent,Missense_T178I,Silent,Missense_T223I,Missense_T232I exm9452 1 6523155 [A/G] NM_148970,NM_148967,NM_148966,NM_003790,NM_148965 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Silent,Missense_A147V,Missense_A192V,Missense_A192V,Missense_P199S exm9459 1 6524501 [T/C] NM_148970,NM_148967,NM_148966,NM_003790,NM_148965,NM_001039664 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Silent,Missense_D114G,Missense_D159G,Missense_D159G,Missense_D159G,Missense_D159G exm9480 1 6525267 [G/C] NM_148970,NM_148967,NM_148966,NM_003790,NM_148965,NM_001039664 TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25,TNFRSF25 EXON Silent,Silent,Missense_A59G,Missense_A59G,Missense_A59G,Missense_A59G exm9484 1 6525565 [T/C] NM_148970,NM_148967,NM_148966,NM_003790,NM_148965,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_148970,NM_148967,NM_148966,NM_003790,NM_148965,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_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G943R,Missense_G1020R,Missense_G1012R,Missense_G943R,Missense_G999R,Silent,Missense_G943R,Missense_G1022R exm9518 1 6528302 [T/C] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_Q865R,Missense_Q942R,Missense_Q934R,Missense_Q865R,Missense_Q921R,Missense_Q865R,Missense_Q865R,Missense_Q944R exm9523 1 6528371 [T/C] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R842Q,Missense_R919Q,Missense_R911Q,Missense_R842Q,Missense_R898Q,Missense_R842Q,Missense_R842Q,Missense_R921Q exm1860664 1 6529187 [T/C] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_E722K,Missense_E799K,Missense_E791K,Missense_E722K,Missense_E778K,Missense_E722K,Missense_E722K,Missense_E801K exm9556 1 6529605 [A/G] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Synonymous_P644P,Synonymous_P721P,Synonymous_P713P,Synonymous_P644P,Synonymous_P700P,Synonymous_P644P,Synonymous_P644P,Synonymous_P723P exm9570 1 6530372 [A/G] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P575L,Missense_P652L,Missense_P644L,Missense_P575L,Missense_P631L,Missense_P575L,Missense_P575L,Missense_P654L exm9571 1 6530391 [T/C] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_D569N,Missense_D646N,Missense_D638N,Missense_D569N,Missense_D625N,Missense_D569N,Missense_D569N,Missense_D648N exm9576 1 6530645 [T/C] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_E534G,Missense_E611G,Missense_E603G,Missense_E534G,Missense_E590G,Missense_E534G,Missense_E534G,Missense_E613G exm2273609 1 6530940 [A/G] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_A466V,Missense_A543V,Missense_A535V,Missense_A466V,Missense_A522V,Missense_A466V,Missense_A466V,Missense_A545V exm9585 1 6531124 [T/C] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_M440V,Missense_M517V,Missense_M509V,Missense_M440V,Missense_M496V,Missense_M440V,Missense_M440V,Missense_M519V exm9590 1 6531589 [T/C] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_A414T,Missense_A491T,Missense_A483T,Missense_A414T,Missense_A470T,Missense_A414T,Missense_A414T,Missense_A493T exm9606 1 6532648 [A/G] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_A340V,Missense_A417V,Missense_A409V,Missense_A340V,Missense_A396V,Missense_A340V,Missense_A340V,Missense_A419V exm9608 1 6532673 [A/G] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_R332W,Missense_R409W,Missense_R401W,Missense_R332W,Missense_R388W,Missense_R332W,Missense_R332W,Missense_R411W exm9611 1 6533102 [T/C] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_D310N,Missense_D387N,Missense_D379N,Missense_D310N,Missense_D366N,Missense_D310N,Missense_D310N,Missense_D389N exm9620 1 6533207 [T/C] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G275S,Missense_G352S,Missense_G344S,Missense_G275S,Missense_G331S,Missense_G275S,Missense_G275S,Missense_G354S exm9626 1 6533393 [G/C] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_T238S,Missense_T315S,Missense_T307S,Missense_T238S,Missense_T294S,Missense_T238S,Missense_T238S,Missense_T317S exm9630 1 6534132 [T/C] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_G178R,Missense_G255R,Missense_G247R,Missense_G178R,Missense_G234R,Missense_G178R,Missense_G178R,Missense_G257R exm9632 1 6534155 [A/G] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P170L,Missense_P247L,Missense_P239L,Missense_P170L,Missense_P226L,Missense_P170L,Missense_P170L,Missense_P249L exm9634 1 6534182 [A/G] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_M161T,Missense_M238T,Missense_M230T,Missense_M161T,Missense_M217T,Missense_M161T,Missense_M161T,Missense_M240T exm1860833 1 6534600 [T/C] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_K117R,Missense_K194R,Missense_K186R,Missense_K117R,Missense_K173R,Missense_K117R,Missense_K117R,Missense_K196R exm9643 1 6534643 [T/C] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_V103M,Missense_V180M,Missense_V172M,Missense_V103M,Missense_V159M,Missense_V103M,Missense_V103M,Missense_V182M exm9646 1 6535149 [A/G] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_I87T,Missense_I164T,Missense_I156T,Missense_I87T,Missense_I143T,Missense_I87T,Missense_I87T,Missense_I166T exm9654 1 6536057 [A/G] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P28L,Missense_P105L,Missense_P97L,Missense_P28L,Missense_P84L,Missense_P28L,Missense_P28L,Missense_P107L exm9655 1 6536076 [T/C] NM_020631,NM_198681,NM_001265593,NM_001042665,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_V22M,Missense_V99M,Missense_V91M,Missense_V22M,Missense_V78M,Missense_V22M,Missense_V22M,Missense_V101M rs2986739 1 6548056 [A/G] NM_020631,NM_198681,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent,Silent,Silent,Silent exm2268861 1 6550376 [T/C] NM_020631,NM_198681,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 Silent,Silent,Silent,Silent,Silent,Silent exm2233725 1 6550505 [T/C] NM_020631,NM_198681,NM_001042663,NM_001265594,NM_001042664,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5,PLEKHG5 EXON Silent,Silent,Silent,Silent,Silent,Silent exm9669 1 6556585 [A/G] NM_198681,NM_001042663,NM_001265592 PLEKHG5,PLEKHG5,PLEKHG5 EXON Missense_P38S,Missense_P17S,Missense_P40S rs4908554 1 6568387 [T/C] NM_198681 PLEKHG5 Silent rs3935435 1 6572175 [A/G] NM_198681 PLEKHG5 Silent rs4243830 1 6577871 [T/C] NM_198681 PLEKHG5 Silent rs1010584 1 6579843 [T/C] NM_198681 PLEKHG5 EXON Silent exm9686 1 6585940 [A/G] NM_024654 NOL9 EXON Missense_P695S exm9702 1 6589087 [T/C] NM_024654 NOL9 EXON Missense_A598T newrs146978611 1 6592659 [A/G] NM_024654 NOL9 EXON Nonsense_R467X exm9726 1 6592718 [A/G] NM_024654 NOL9 EXON Missense_P447L exm2233730 1 6592800 [T/C] NM_024654 NOL9 EXON Missense_I420V rs4908909 1 6599041 [T/C] NM_024654 NOL9 Silent 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_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_C4Y,Missense_C4Y exm9789 1 6615467 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Nonsense_Q12X,Nonsense_Q12X exm9790 1 6615469 [C/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_Q12H,Missense_Q12H rs12565181 1 6620545 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 Silent,Silent exm9800 1 6631106 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_A110V,Missense_A110V exm9802 1 6631121 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_T115M,Missense_T115M exm9805 1 6631153 [A/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_H126N,Missense_H126N exm9806 1 6631157 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_I127T,Missense_I127T exm-rs11587438 1 6631431 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 Silent,Silent exm9821 1 6634731 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_R180Q exm9822 1 6634733 [G/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_Q181E exm9823 1 6634764 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_N191S exm9831 1 6634901 [A/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_I237L exm9833 1 6634973 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_R261C exm9848 1 6635231 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_K347E exm9849 1 6635235 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_A348V exm9850 1 6635259 [C/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_S356C exm9851 1 6635294 [G/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_Q368E exm9852 1 6635306 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_A372T exm9853 1 6635309 [A/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_H373N indel.549 1 6635346 [D/I] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON exm9860 1 6635420 [T/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Missense_A410S exm9863 1 6635448 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Silent,Nonsense_W419X exm9872 1 6636610 [G/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_L212V,Missense_L466V exm9874 1 6636622 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_T216A,Missense_T470A exm9875 1 6636662 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_I229T,Missense_I483T exm9880 1 6636684 [C/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_N236K,Missense_N490K exm1863306 1 6637055 [G/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R253G,Missense_R507G exm9881 1 6637056 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R253Q,Missense_R507Q exm9889 1 6638779 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_P300L,Missense_P554L exm9897 1 6638869 [G/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_T330S,Missense_T584S exm9899 1 6638925 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R349C,Missense_R603C exm9900 1 6638926 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R349H,Missense_R603H exm9901 1 6638949 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_S357P,Missense_S611P exm9904 1 6638995 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_P372L,Missense_P626L exm9907 1 6639073 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_R398H,Missense_R652H exm9912 1 6639150 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_G424S,Missense_G678S exm9917 1 6639184 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_A435V,Missense_A689V exm1863319 1 6639343 [T/C] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_A488V,Missense_A742V exm9923 1 6639369 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_D497N,Missense_D751N exm9928 1 6639411 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_S511G,Missense_S765G exm9930 1 6639436 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Nonsense_W519X,Nonsense_W773X exm9933 1 6639525 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_G549S,Missense_G803S exm9934 1 6639538 [A/G] NM_177540,NM_138697 TAS1R1,TAS1R1 EXON Missense_Y553C,Missense_Y807C 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 variant.558 1 6647283 [T/C] NM_005341 ZBTB48 EXON Nonsense_Q386X 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 rs7521134 1 6657240 [T/C] NM_014851 KLHL21 Silent 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 exm10186 1 6688578 [G/C] NM_001195753,NM_138350,NM_001195752 THAP3,THAP3,THAP3 EXON Missense_E32Q,Missense_E32Q,Missense_E32Q exm10188 1 6688639 [T/C] NM_001195753,NM_138350,NM_001195752 THAP3,THAP3,THAP3 EXON Missense_T52M,Missense_T52M,Missense_T52M exm10190 1 6688680 [A/G] NM_001195753,NM_138350,NM_001195752 THAP3,THAP3,THAP3 EXON Missense_A66T,Missense_A66T,Missense_A66T exm10192 1 6688740 [A/G] NM_001195753,NM_138350,NM_001195752 THAP3,THAP3,THAP3 EXON Missense_D86N,Missense_D86N,Missense_D86N variant.571 1 6690413 [A/G] NM_001195753,NM_138350,NM_001195752 THAP3,THAP3,THAP3 EXON Synonymous_K111K,Synonymous_K111K,Synonymous_K110K exm10202 1 6692464 [T/C] NM_001195753,NM_138350,NM_001195752 THAP3,THAP3,THAP3 EXON Missense_A116V,Missense_A123V,Missense_A115V exm10224 1 6694099 [A/C] NM_138350 THAP3 EXON Missense_E160A exm10227 1 6694119 [T/C] NM_138350 THAP3 EXON Missense_R167C rs12727844 1 6694207 [A/G] NM_138350 THAP3 EXON Silent rs1043681 1 6695123 [T/C] NM_138350,NM_018198 THAP3,DNAJC11 EXON Silent,Silent 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 variant.579 1 6711072 [T/C] NM_018198 DNAJC11 Silent rs2235564 1 6713114 [T/C] NM_018198 DNAJC11 Silent rs6659873 1 6723806 [T/G] NM_018198 DNAJC11 Silent rs11122115 1 6725427 [T/C] NM_018198 DNAJC11 Silent 1KG_1_6727802 1 6727802 [D/I] NM_018198 DNAJC11 EXON rs201151 1 6732424 [A/G] NM_018198 DNAJC11 Silent exm10343 1 6741027 [T/A] NM_018198 DNAJC11 EXON Missense_D48V exm10345 1 6761808 [A/G] NM_018198 DNAJC11 EXON Missense_L18S rs277679 1 6783548 [T/C] rs11122122 1 6790946 [A/G] rs447558 1 6795230 [T/C] rs2134318 1 6798102 [T/C] exm2252762 1 6814758 [T/C] rs277665 1 6814758 [T/C] rs378930 1 6826467 [A/G] rs391674 1 6832052 [A/G] rs11122144 1 6835761 [A/G] rs17029864 1 6863342 [A/G] NR_038934,NM_001195563,NM_001242701,NM_015215 CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent rs589178 1 6870942 [T/C] NR_038934,NM_001195563,NM_001242701,NM_015215 CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent rs659459 1 6873932 [T/C] NR_038934,NM_001195563,NM_001242701,NM_015215 CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent exm10350 1 6880304 [A/G] NR_038934,NM_001195563,NM_001242701,NM_015215 CAMTA1,CAMTA1,CAMTA1,CAMTA1 EXON Silent,Missense_I37V,Missense_I37V,Missense_I37V rs12058103 1 6903599 [A/G] NR_038934,NM_001195563,NM_001242701,NM_015215 CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent rs6688732 1 6929760 [A/G] NR_038934,NM_001195563,NM_001242701,NM_015215 CAMTA1,CAMTA1,CAMTA1,CAMTA1 Silent,Silent,Silent,Silent rs11586867 1 6972393 [T/C] NM_015215 CAMTA1 Silent rs12122806 1 6978623 [T/C] NM_015215 CAMTA1 Silent rs4908574 1 6986109 [A/G] NM_015215 CAMTA1 Silent rs6577395 1 6991925 [T/C] NM_015215 CAMTA1 Silent rs6688108 1 7007311 [T/C] NM_015215 CAMTA1 Silent rs10864251 1 7011805 [A/C] NM_015215 CAMTA1 Silent rs11120796 1 7014330 [A/G] NM_015215 CAMTA1 Silent rs17030082 1 7029262 [A/G] NM_015215 CAMTA1 Silent rs6698901 1 7041175 [A/G] NM_015215 CAMTA1 Silent rs1317017 1 7048779 [A/G] NM_015215 CAMTA1 Silent rs6681529 1 7052566 [A/G] NM_015215 CAMTA1 Silent rs17030129 1 7059150 [A/G] NM_015215 CAMTA1 Silent rs11120813 1 7062993 [A/G] NM_015215 CAMTA1 Silent rs6690584 1 7078434 [T/G] NM_015215 CAMTA1 Silent rs17030152 1 7083719 [T/C] NM_015215 CAMTA1 Silent rs11120820 1 7087739 [A/G] NM_015215 CAMTA1 Silent rs11588846 1 7088261 [A/G] NM_015215 CAMTA1 Silent exm2264795 1 7088855 [A/G] NM_015215 CAMTA1 Silent rs12738895 1 7093213 [T/C] NM_015215 CAMTA1 Silent rs7553537 1 7096700 [T/C] NM_015215 CAMTA1 Silent rs4074964 1 7105079 [A/G] NM_015215 CAMTA1 Silent rs6577410 1 7112390 [T/C] NM_015215 CAMTA1 Silent rs4908595 1 7119202 [T/C] NM_015215 CAMTA1 Silent rs4436414 1 7120915 [A/G] NM_015215 CAMTA1 Silent rs9434824 1 7137637 [A/G] NM_015215 CAMTA1 Silent rs1009113 1 7143807 [A/G] NM_015215 CAMTA1 Silent rs7544611 1 7148455 [T/C] NM_015215 CAMTA1 Silent rs2071917 1 7150527 [A/G] NM_015215 CAMTA1 Silent rs2071918 1 7150577 [T/C] NM_015215 CAMTA1 Silent var_1_7151436 1 7151436 [T/C] NM_015215 CAMTA1 Silent rs11120840 1 7156082 [T/G] NM_015215 CAMTA1 Silent rs6694886 1 7167031 [T/G] NM_015215 CAMTA1 Silent rs7527268 1 7173895 [T/C] NM_015215 CAMTA1 Silent rs9434469 1 7177744 [T/C] NM_015215 CAMTA1 Silent rs7532024 1 7179479 [T/C] NM_015215 CAMTA1 Silent rs4908443 1 7179721 [T/C] NM_015215 CAMTA1 Silent rs4908600 1 7196659 [T/C] NM_015215 CAMTA1 Silent exm-rs970973 1 7202190 [T/C] NM_015215 CAMTA1 Silent rs970973 1 7202190 [T/C] NM_015215 CAMTA1 Silent rs12751444 1 7208217 [T/C] NM_015215 CAMTA1 Silent rs9434483 1 7217727 [A/G] NM_015215 CAMTA1 Silent rs4908602 1 7220970 [A/G] NM_015215 CAMTA1 Silent rs6577416 1 7231484 [T/G] NM_015215 CAMTA1 Silent rs4908445 1 7241523 [A/G] NM_015215 CAMTA1 Silent rs12735487 1 7245162 [A/G] NM_015215 CAMTA1 Silent rs4908605 1 7245434 [T/G] NM_015215 CAMTA1 Silent rs17030562 1 7256943 [A/C] NM_015215 CAMTA1 Silent rs4908448 1 7269283 [T/C] NM_015215 CAMTA1 Silent rs916393 1 7272250 [T/C] NM_015215 CAMTA1 Silent exm2268862 1 7278011 [T/C] NM_015215 CAMTA1 Silent rs2067996 1 7310351 [A/G] NM_015215 CAMTA1 Silent rs4908610 1 7311260 [A/C] NM_015215 CAMTA1 Silent rs6701870 1 7312258 [T/C] NM_015215 CAMTA1 Silent rs6698548 1 7317541 [A/G] NM_015215 CAMTA1 Silent rs10864289 1 7318448 [T/C] NM_015215 CAMTA1 Silent rs11120889 1 7324323 [T/C] NM_015215 CAMTA1 Silent rs10864290 1 7326245 [A/G] NM_015215 CAMTA1 Silent rs2412148 1 7331060 [T/C] NM_015215 CAMTA1 Silent rs2412147 1 7331347 [A/G] NM_015215 CAMTA1 Silent rs7539551 1 7338813 [A/G] NM_015215 CAMTA1 Silent rs12409413 1 7342106 [T/C] NM_015215 CAMTA1 Silent rs6687562 1 7343666 [T/C] NM_015215 CAMTA1 Silent rs1894654 1 7351434 [T/C] NM_015215 CAMTA1 Silent rs11120896 1 7361338 [A/G] NM_015215 CAMTA1 Silent rs9659928 1 7362478 [A/G] NM_015215 CAMTA1 Silent rs12128469 1 7375258 [T/C] NM_015215 CAMTA1 Silent rs7543711 1 7379198 [T/C] NM_015215 CAMTA1 Silent rs12563394 1 7380747 [A/G] NM_015215 CAMTA1 Silent rs12041403 1 7394728 [T/C] NM_015215 CAMTA1 Silent rs845246 1 7405293 [T/C] NM_015215 CAMTA1 Silent rs763173 1 7410182 [T/G] NM_015215 CAMTA1 Silent rs845270 1 7426875 [T/C] NM_015215 CAMTA1 Silent rs2040433 1 7448154 [T/C] NM_015215 CAMTA1 Silent rs845202 1 7464375 [A/G] NM_015215 CAMTA1 Silent rs763161 1 7468614 [A/G] NM_015215 CAMTA1 Silent rs7535846 1 7471157 [T/C] NM_015215 CAMTA1 Silent rs11120917 1 7478076 [T/C] NM_015215 CAMTA1 Silent rs11120919 1 7482205 [A/G] NM_015215 CAMTA1 Silent rs10864302 1 7487277 [T/C] NM_015215 CAMTA1 Silent rs1193220 1 7492265 [A/G] NM_015215 CAMTA1 Silent rs9988557 1 7493231 [A/G] NM_015215 CAMTA1 Silent rs1193224 1 7497407 [A/G] NM_015215 CAMTA1 Silent rs17030865 1 7500586 [A/G] NM_015215 CAMTA1 Silent rs12565108 1 7501060 [T/C] NM_015215 CAMTA1 Silent rs6577445 1 7513025 [T/C] NM_015215 CAMTA1 Silent rs1750837 1 7520601 [T/C] NM_015215 CAMTA1 Silent rs11805932 1 7521479 [A/G] NM_015215 CAMTA1 Silent rs6702132 1 7524476 [A/G] NM_015215 CAMTA1 Silent rs1149331 1 7528669 [A/G] NM_015215 CAMTA1 Silent rs6678279 1 7540770 [T/C] NM_015215 CAMTA1 Silent rs2796483 1 7541345 [T/C] NM_015215 CAMTA1 Silent rs947675 1 7548616 [A/G] NM_015215 CAMTA1 Silent rs1193230 1 7551631 [T/C] NM_015215 CAMTA1 Silent rs10864304 1 7557152 [A/G] NM_015215 CAMTA1 Silent rs1725262 1 7562488 [T/C] NM_015215 CAMTA1 Silent rs1725241 1 7567618 [T/C] NM_015215 CAMTA1 Silent rs12565334 1 7567768 [T/C] NM_015215 CAMTA1 Silent rs1193179 1 7569602 [T/C] NM_015215 CAMTA1 Silent rs749958 1 7572262 [T/C] NM_015215 CAMTA1 Silent rs7529399 1 7575666 [T/C] NM_015215 CAMTA1 Silent rs6693468 1 7578333 [A/G] NM_015215 CAMTA1 Silent rs6670316 1 7578713 [A/C] NM_015215 CAMTA1 Silent rs1750817 1 7578776 [A/G] NM_015215 CAMTA1 Silent exm2268649 1 7584814 [T/G] NM_015215 CAMTA1 Silent rs1193167 1 7590448 [A/G] NM_015215 CAMTA1 Silent rs6577449 1 7598094 [T/C] NM_015215 CAMTA1 Silent rs12407666 1 7600905 [A/G] NM_015215 CAMTA1 Silent rs957856 1 7613745 [A/G] NM_015215 CAMTA1 Silent rs17031113 1 7617484 [A/G] NM_015215 CAMTA1 Silent rs6696544 1 7621589 [A/C] NM_015215 CAMTA1 Silent rs17031145 1 7626995 [A/C] NM_015215 CAMTA1 Silent rs7526052 1 7634687 [T/C] NM_015215 CAMTA1 Silent rs12139380 1 7682237 [T/C] NM_015215 CAMTA1 Silent exm10368 1 7700514 [A/G] NM_015215 CAMTA1 EXON Missense_G189S rs9434879 1 7713021 [A/G] NM_015215 CAMTA1 Silent rs17031253 1 7717080 [A/C] NM_015215 CAMTA1 Silent 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 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 rs1891215 1 7727854 [T/C] NM_015215 CAMTA1 Silent rs4908473 1 7731730 [T/C] NM_015215 CAMTA1 Silent rs6673977 1 7736097 [A/G] NM_015215 CAMTA1 Silent exm10496 1 7737755 [T/C] NM_015215 CAMTA1 EXON Missense_T959M rs12756299 1 7758760 [T/C] NM_015215 CAMTA1 Silent rs3011937 1 7775407 [A/G] NM_015215 CAMTA1 Silent rs12028339 1 7784902 [A/G] NM_015215 CAMTA1 Silent exm10502 1 7792520 [A/G] NM_015215 CAMTA1 EXON Missense_R976K exm10515 1 7796504 [A/G] NM_015215 CAMTA1 EXON Missense_H1056R rs2071985 1 7796641 [A/G] NM_015215 CAMTA1 Silent 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 rs2032563 1 7801288 [A/G] NM_015215 CAMTA1 Silent rs2071986 1 7805208 [T/G] NM_015215 CAMTA1 Silent exm10575 1 7806012 [T/C] NM_015215 CAMTA1 EXON Missense_A1493V exm10586 1 7811361 [A/G] NM_015215 CAMTA1 EXON Missense_V1598M rs9919220 1 7811961 [A/G] NM_015215 CAMTA1 Silent variant.584 1 7812598 [A/G] NM_015215 CAMTA1 Silent rs707455 1 7825311 [A/G] NM_015215 CAMTA1 Silent rs697672 1 7826347 [T/C] NM_015215 CAMTA1 Silent var_1_7826559 1 7826559 [T/C] NM_015215 CAMTA1 EXON Silent rs2153733 1 7830262 [T/C] rs2071987 1 7834026 [A/G] NM_004781 VAMP3 Silent exm10611 1 7838228 [T/C] NM_004781 VAMP3 EXON Synonymous_I94I variant.587 1 7838230 [T/G] NM_004781 VAMP3 Silent rs707460 1 7838691 [T/C] NM_004781 VAMP3 Silent exm10627 1 7845505 [A/C] NM_016831 PER3 EXON Missense_Q45K newrs143519087 1 7846779 [A/G] NM_016831 PER3 Silent indel.590 1 7846786 [D/I] NM_016831 PER3 EXON 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 rs10864315 1 7850081 [T/C] NM_016831 PER3 Silent rs697686 1 7850218 [T/C] NM_016831 PER3 Silent indel.591 1 7854012 [I/D] NM_016831 PER3 rs707467 1 7861684 [A/C] NM_016831 PER3 Silent exm10681 1 7863183 [T/C] NM_016831 PER3 EXON Missense_R316C rs228642 1 7863293 [T/C] NM_016831 PER3 Silent 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 rs228666 1 7868725 [T/C] NM_016831 PER3 Silent exm10695 1 7869953 [G/C] NM_016831 PER3 EXON Missense_P414A exm10696 1 7869960 [A/G] NM_016831 PER3 EXON Missense_H416R 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 var_1_7879481 1 7879481 [A/G] NM_016831 PER3 Silent rs10462018 1 7879627 [T/C] NM_016831 PER3 Silent exm10732 1 7880251 [G/C] NM_016831 PER3 EXON Missense_E571Q exm10746 1 7880683 [T/G] NM_016831 PER3 EXON Missense_V639G rs10127838 1 7881780 [T/C] NM_016831 PER3 Silent 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 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 rs10462021 1 7897133 [A/G] NM_016831 PER3 EXON Missense_H1149R exm10854 1 7897133 [A/G] NM_016831 PER3 EXON Missense_H1149R exm10855 1 7897136 [T/G] NM_016831 PER3 EXON Missense_G1150V indel.606 1 7897139 [I/D] NM_016831 PER3 EXON variant.607 1 7897180 [T/C] NM_016831 PER3 EXON Nonsense_Q1165X 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 variant.609 1 7907859 [T/C] NM_021995,NM_006786 UTS2,UTS2 EXON Synonymous_E129E,Synonymous_E114E exm10872 1 7907918 [T/G] NM_021995,NM_006786 UTS2,UTS2 EXON Missense_P110T,Missense_P95T exm10873 1 7907931 [T/G] NM_021995,NM_006786 UTS2,UTS2 EXON Missense_F105L,Missense_F90L exm10875 1 7909737 [T/C] NM_021995,NM_006786 UTS2,UTS2 EXON Missense_S89N,Missense_S74N var_1_7909739 1 7909739 [D/I] NM_021995,NM_006786 UTS2,UTS2 EXON indel.611 1 7910890 [D/I] NM_021995,NM_006786 UTS2,UTS2 EXON exm10887 1 7912975 [A/G] NM_021995,NM_006786 UTS2,UTS2 EXON Missense_S45F,Missense_S30F exm10891 1 7913029 [A/G] NM_021995,NM_006786 UTS2,UTS2 EXON Silent,Missense_I12T exm10894 1 7913406 [T/G] NM_021995 UTS2 EXON Missense_N29T rs228648 1 7913430 [A/G] NM_021995 UTS2 EXON Missense_T21M exm10896 1 7913445 [T/C] NM_021995 UTS2 EXON Missense_R16Q rs11582983 1 7916387 [T/C] rs707476 1 7918106 [T/C] rs2859389 1 7920423 [T/C] rs531485 1 7921952 [T/G] rs504560 1 7926542 [A/G] rs228716 1 7936272 [T/G] rs228703 1 7944264 [A/G] rs1040397 1 7952427 [A/G] rs170551 1 7955894 [A/G] rs227163 1 7961206 [T/C] rs12068202 1 7961294 [A/G] exm2264984 1 7980338 [A/G] NM_001561 TNFRSF9 EXON Silent rs863171 1 7992615 [T/C] NM_001561 TNFRSF9 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 rs161811 1 7999602 [T/C] NM_001561 TNFRSF9 Silent variant.617 1 7999982 [A/G] NM_001561 TNFRSF9 EXON Nonsense_Q25X rs161799 1 8015560 [A/G] exm-rs35675666 1 8021973 [T/G] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent rs3766606 1 8022197 [T/G] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent rs7528618 1 8024550 [T/C] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent exm10955 1 8025459 [A/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_A56T,Missense_A56T variant.620 1 8029464 [A/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Synonymous_E84E,Synonymous_E84E exm1909227 1 8031000 [C/G] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_G100A,Missense_G100A rs225119 1 8044361 [T/C] NM_001123377,NM_007262 PARK7,PARK7 Silent,Silent exm10972 1 8044990 [A/C] NM_001123377,NM_007262 PARK7,PARK7 EXON Missense_D149A,Missense_D149A indel.625 1 8045015 [D/I] NM_001123377,NM_007262 PARK7,PARK7 EXON exm10979 1 8045079 [A/G] NM_001123377,NM_007262 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 rs11799555 1 8094200 [T/G] rs225132 1 8095500 [T/G] rs225133 1 8098462 [A/G] rs17032042 1 8106987 [T/G] rs7525428 1 8118634 [T/C] rs4908724 1 8119251 [T/G] rs12081139 1 8160832 [T/C] rs10864330 1 8168564 [T/C] rs7523335 1 8180210 [A/G] rs6577466 1 8182535 [T/G] rs9434608 1 8185985 [T/C] rs4908736 1 8187211 [A/G] rs7527904 1 8189854 [T/C] rs12144409 1 8191889 [T/C] rs7545284 1 8192898 [A/G] rs7529511 1 8195226 [T/C] rs12564077 1 8212425 [T/C] rs11121117 1 8217303 [T/C] rs17032281 1 8222156 [A/G] rs6663882 1 8244145 [A/G] rs11587140 1 8260834 [T/C] rs7548511 1 8267513 [A/G] rs390468 1 8274018 [A/G] rs428180 1 8278899 [A/C] rs10864340 1 8280517 [T/C] rs11589993 1 8284497 [A/G] rs299499 1 8292761 [A/G] rs7528376 1 8295130 [T/C] rs4301655 1 8313894 [A/G] rs438895 1 8338355 [A/G] rs299689 1 8352398 [T/C] rs966134 1 8373208 [A/G] rs12132135 1 8382607 [A/G] rs7517675 1 8382681 [A/G] 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 rs2289731 1 8390888 [A/G] NM_001080397 SLC45A1 EXON Synonymous_P445P rs2305016 1 8395441 [T/C] NM_001080397 SLC45A1 Silent exm11163 1 8395521 [A/G] NM_001080397 SLC45A1 EXON Missense_V490M exm11166 1 8395560 [T/G] NM_001080397 SLC45A1 EXON Missense_A503S rs7520373 1 8397803 [T/C] NM_001080397 SLC45A1 Silent 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 rs8627 1 8412935 [T/C] NM_012102,NM_001042681,NM_001042682 RERE,RERE,RERE EXON Silent,Silent,Silent exm11225 1 8415618 [T/G] NM_012102,NM_001042681,NM_001042682 RERE,RERE,RERE EXON Missense_P1510T,Missense_P1510T,Missense_P956T exm11230 1 8416160 [T/C] NM_012102,NM_001042681,NM_001042682 RERE,RERE,RERE EXON Missense_G1496S,Missense_G1496S,Missense_G942S exm11297 1 8419891 [T/C] NM_012102,NM_001042681,NM_001042682 RERE,RERE,RERE EXON Missense_R1184Q,Missense_R1184Q,Missense_R630Q exm1912798 1 8420270 [A/G] NM_012102,NM_001042681,NM_001042682 RERE,RERE,RERE EXON Synonymous_D1099D,Synonymous_D1099D,Synonymous_D545D exm11354 1 8421186 [A/G] NM_012102,NM_001042681,NM_001042682 RERE,RERE,RERE EXON Missense_P794L,Missense_P794L,Missense_P240L exm11374 1 8421875 [A/G] NM_012102,NM_001042681,NM_001042682 RERE,RERE,RERE EXON Missense_A655V,Missense_A655V,Missense_A101V exm11375 1 8421890 [T/G] NM_012102,NM_001042681,NM_001042682 RERE,RERE,RERE EXON Missense_Q650P,Missense_Q650P,Missense_Q96P rs2252865 1 8422676 [T/C] NM_012102,NM_001042681,NM_001042682 RERE,RERE,RERE Silent,Silent,Silent exm11380 1 8422837 [T/C] NM_012102,NM_001042681,NM_001042682 RERE,RERE,RERE EXON Missense_N603S,Missense_N603S,Missense_N49S rs3753275 1 8425900 [T/C] NM_012102,NM_001042681,NM_001042682 RERE,RERE,RERE EXON Synonymous_T473T,Synonymous_T473T,Silent rs11121181 1 8477006 [A/G] NM_012102,NM_001042681,NM_001042682 RERE,RERE,RERE Silent,Silent,Silent rs301806 1 8482078 [T/C] NM_012102,NM_001042681,NM_001042682 RERE,RERE,RERE Silent,Silent,Silent exm11420 1 8482797 [T/C] NM_012102,NM_001042681,NM_001042682 RERE,RERE,RERE EXON Missense_N425S,Missense_N425S,Silent rs301798 1 8488565 [A/G] NM_012102,NM_001042681 RERE,RERE Silent,Silent rs2784739 1 8497558 [T/G] NM_012102,NM_001042681 RERE,RERE Silent,Silent 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 rs4908501 1 8554471 [T/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 rs7545384 1 8580960 [A/C] NM_012102,NM_001042681 RERE,RERE Silent,Silent rs2297867 1 8586563 [A/C] NM_012102,NM_001042681 RERE,RERE Silent,Silent exm11445 1 8616562 [T/C] NM_012102,NM_001042681 RERE,RERE EXON Missense_V233I,Missense_V233I rs11121203 1 8648240 [T/C] NM_012102,NM_001042681 RERE,RERE Silent,Silent rs6677196 1 8649642 [A/G] NM_012102,NM_001042681 RERE,RERE Silent,Silent rs1318218 1 8658712 [T/C] NM_012102,NM_001042681 RERE,RERE Silent,Silent rs6577513 1 8702753 [A/G] NM_012102,NM_001042681 RERE,RERE Silent,Silent exm11462 1 8716118 [A/G] NM_012102,NM_001042681 RERE,RERE EXON Missense_P80L,Missense_P80L rs6658881 1 8751268 [T/C] NM_012102,NM_001042681 RERE,RERE Silent,Silent exm-rs12025126 1 8759554 [T/C] NM_012102,NM_001042681 RERE,RERE Silent,Silent rs10864363 1 8767311 [T/G] NM_012102,NM_001042681 RERE,RERE Silent,Silent rs17032760 1 8779019 [T/G] NM_012102,NM_001042681 RERE,RERE Silent,Silent rs12567592 1 8788907 [T/C] NM_012102,NM_001042681 RERE,RERE Silent,Silent kgp347954 1 8796252 [T/G] NM_012102,NM_001042681 RERE,RERE Silent,Silent rs7513880 1 8839300 [A/G] NM_012102,NM_001042681 RERE,RERE Silent,Silent rs12137865 1 8868406 [A/G] NM_012102,NM_001042681 RERE,RERE Silent,Silent rs7546225 1 8871965 [T/C] NM_012102,NM_001042681 RERE,RERE Silent,Silent rs11121242 1 8906301 [A/G] rs12135416 1 8910347 [A/G] rs11121247 1 8918795 [T/C] variant.631 1 8922983 [A/G] NM_001201483,NM_001428 ENO1,ENO1 EXON Nonsense_R307X,Nonsense_R400X 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 rs2781064 1 8926868 [T/C] NM_001201483,NM_001428 ENO1,ENO1 Silent,Silent 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 rs2274971 1 8931149 [T/C] NM_001201483,NM_001428 ENO1,ENO1 EXON Silent,Silent exm11539 1 8931964 [T/C] NM_001428 ENO1 EXON Missense_R56H rs10218541 1 8952029 [T/C] rs12034719 1 8960153 [A/G] rs7534552 1 8969219 [A/G] rs6665631 1 8978514 [A/G] rs11805233 1 8983768 [T/C] rs4609454 1 8991141 [A/G] rs9434652 1 8991873 [T/C] rs914997 1 8998059 [T/C] exm11548 1 9009352 [A/T] NM_001270502,NM_001215,NM_001270500,NM_001270501 CA6,CA6,CA6,CA6 EXON Silent,Missense_Q37L,Missense_Q37L,Silent exm11550 1 9009377 [G/C] NM_001270502,NM_001215,NM_001270500,NM_001270501 CA6,CA6,CA6,CA6 EXON Silent,Missense_Q45H,Missense_Q45H,Silent exm11552 1 9009406 [T/C] NM_001270502,NM_001215,NM_001270500,NM_001270501 CA6,CA6,CA6,CA6 EXON Silent,Missense_T55M,Missense_T55M,Silent rs2274327 1 9009406 [T/C] NM_001270502,NM_001215,NM_001270500,NM_001270501 CA6,CA6,CA6,CA6 EXON Silent,Missense_T55M,Missense_T55M,Silent exm11553 1 9009414 [T/C] NM_001270502,NM_001215,NM_001270500,NM_001270501 CA6,CA6,CA6,CA6 EXON Silent,Missense_R58W,Missense_R58W,Silent exm11555 1 9009444 [A/C] NM_001270502,NM_001215,NM_001270500,NM_001270501 CA6,CA6,CA6,CA6 EXON Silent,Missense_M68L,Missense_M68L,Silent rs2274328 1 9009444 [A/C] NM_001270502,NM_001215,NM_001270500,NM_001270501 CA6,CA6,CA6,CA6 EXON Silent,Missense_M68L,Missense_M68L,Silent exm11556 1 9009451 [G/C] NM_001270502,NM_001215,NM_001270500,NM_001270501 CA6,CA6,CA6,CA6 EXON Silent,Missense_G70A,Missense_G70A,Silent rs3765966 1 9011722 [T/G] NM_001270502,NM_001215,NM_001270500,NM_001270501 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent rs2274332 1 9017091 [T/C] NM_001270502,NM_001215,NM_001270500,NM_001270501 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent rs2274333 1 9017204 [A/G] NM_001270502,NM_001215,NM_001270500,NM_001270501 CA6,CA6,CA6,CA6 EXON Silent,Missense_S90G,Missense_S90G,Missense_S30G exm11574 1 9017204 [A/G] NM_001270502,NM_001215,NM_001270500,NM_001270501 CA6,CA6,CA6,CA6 EXON Silent,Missense_S90G,Missense_S90G,Missense_S30G rs12061974 1 9018931 [A/G] NM_001270502,NM_001215,NM_001270500,NM_001270501 CA6,CA6,CA6,CA6 Silent,Silent,Silent,Silent exm11605 1 9030959 [A/C] NM_001270502,NM_001215,NM_001270500,NM_001270501 CA6,CA6,CA6,CA6 EXON Missense_R127S,Missense_R255S,Missense_R255S,Missense_R195S exm11606 1 9030964 [T/C] NM_001270502,NM_001215,NM_001270500,NM_001270501 CA6,CA6,CA6,CA6 EXON Synonymous_N128N,Synonymous_N256N,Synonymous_N256N,Synonymous_N196N exm2253595 1 9030964 [T/C] NM_001270502,NM_001215,NM_001270500,NM_001270501 CA6,CA6,CA6,CA6 EXON Synonymous_N128N,Synonymous_N256N,Synonymous_N256N,Synonymous_N196N exm11608 1 9031032 [T/C] NM_001270502,NM_001215,NM_001270500,NM_001270501 CA6,CA6,CA6,CA6 EXON Missense_P151L,Missense_P279L,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 rs875148 1 9049032 [T/G] rs4908803 1 9060170 [A/G] rs12047015 1 9061382 [T/C] 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 rs7537425 1 9073801 [T/C] NM_207420 SLC2A7 Silent exm11679 1 9074778 [T/C] NM_207420 SLC2A7 EXON Missense_V289M exm11686 1 9074861 [T/C] NM_207420 SLC2A7 EXON Missense_R261Q 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 newrs148511942 1 9083101 [A/G] NM_207420 SLC2A7 EXON Nonsense_R63X 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] rs5840 1 9097241 [T/C] NM_003039 SLC2A5 EXON Silent kgp9153910 1 9097251 [A/G] NM_003039 SLC2A5 EXON Silent 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 rs875996 1 9098230 [T/C] NM_003039 SLC2A5 Silent 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 rs1060998 1 9100479 [A/G] NM_003039 SLC2A5 Silent 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 rs3004245 1 9111626 [A/C] NM_003039,NM_001135585 SLC2A5,SLC2A5 Silent,Silent rs7521322 1 9114091 [A/G] NM_003039,NM_001135585 SLC2A5,SLC2A5 Silent,Silent rs13306771 1 9117577 [T/C] NM_003039,NM_001135585 SLC2A5,SLC2A5 EXON Missense_V75M,Missense_V75M kgp15820906 1 9117596 [T/C] NM_003039,NM_001135585 SLC2A5,SLC2A5 EXON Synonymous_T68T,Synonymous_T68T 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 rs12145292 1 9118596 [A/C] NM_003039,NM_001135585 SLC2A5,SLC2A5 Silent,Silent rs765617 1 9121782 [A/G] NM_003039,NM_001135585 SLC2A5,SLC2A5 Silent,Silent kgp4856177 1 9129620 [T/C] NM_003039,NM_001135585 SLC2A5,SLC2A5 EXON Silent,Silent kgp15436943 1 9129791 [T/C] NM_003039,NM_001135585 SLC2A5,SLC2A5 EXON Silent,Silent rs3820034 1 9129867 [A/G] NM_003039,NM_001135585 SLC2A5,SLC2A5 EXON Silent,Silent rs770041 1 9129945 [A/G] rs1751681 1 9133056 [T/C] rs12726360 1 9140078 [T/C] rs12127491 1 9140327 [T/C] rs12751466 1 9147856 [T/C] rs12239636 1 9155701 [T/C] rs12239637 1 9155711 [T/C] rs3737669 1 9164133 [A/G] 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 rs10864390 1 9182914 [T/C] NM_024980 GPR157 Silent rs4908812 1 9185660 [A/G] NM_024980 GPR157 Silent rs17393144 1 9210262 [A/G] rs797263 1 9238553 [T/C] rs10864392 1 9250991 [T/C] rs4908823 1 9256200 [A/G] rs2032540 1 9269638 [A/G] rs6577561 1 9274446 [T/C] rs1009941 1 9275194 [A/G] rs10489436 1 9285721 [A/G] rs9434723 1 9292282 [A/G] rs2268175 1 9300608 [T/C] NM_004285 H6PD Silent 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 rs7524046 1 9307033 [A/G] NM_004285 H6PD EXON Synonymous_A212A 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 rs3753163 1 9318401 [T/C] NM_004285 H6PD Silent 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 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 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 rs17033642 1 9326132 [A/C] NM_004285 H6PD EXON Silent rs11121354 1 9327413 [T/G] NM_004285 H6PD EXON Silent rs9435168 1 9331952 [A/G] rs12093524 1 9334714 [A/G] rs916380 1 9341038 [T/C] rs9726385 1 9349938 [T/C] rs621846 1 9358243 [T/C] NM_025106 SPSB1 Silent rs9442562 1 9367908 [A/G] NM_025106 SPSB1 Silent rs630075 1 9370911 [A/G] NM_025106 SPSB1 Silent rs1294046 1 9379693 [A/G] NM_025106 SPSB1 Silent rs11121371 1 9392728 [A/G] NM_025106 SPSB1 Silent rs926247 1 9394008 [T/C] NM_025106 SPSB1 Silent rs12728282 1 9396935 [T/C] NM_025106 SPSB1 Silent rs2075972 1 9406979 [T/C] NM_025106 SPSB1 Silent rs11121380 1 9408959 [A/C] NM_025106 SPSB1 Silent rs11121382 1 9411469 [C/G] NM_025106 SPSB1 Silent rs2310919 1 9415727 [A/G] NM_025106 SPSB1 Silent exm12119 1 9416003 [T/C] NM_025106 SPSB1 EXON Missense_T18M rs4908852 1 9416962 [A/G] NM_025106 SPSB1 Silent rs4908853 1 9420502 [A/G] NM_025106 SPSB1 Silent exm1939653 1 9427508 [T/C] NM_025106 SPSB1 EXON Synonymous_P232P rs2275457 1 9427869 [A/G] NM_025106 SPSB1 EXON Silent rs11802522 1 9434137 [A/C] rs9729149 1 9441040 [T/C] rs2095904 1 9447371 [T/C] rs6688312 1 9458793 [T/G] rs11121406 1 9466292 [A/C] rs12044809 1 9466803 [A/G] rs10864418 1 9489972 [A/G] rs11121412 1 9490339 [A/G] rs9726404 1 9495571 [T/C] rs9787285 1 9499246 [A/G] rs4926481 1 9503008 [T/C] rs4926491 1 9514846 [T/C] rs6695925 1 9526956 [A/G] rs10864425 1 9526979 [A/G] rs10157778 1 9542612 [A/G] rs7550613 1 9562830 [A/G] rs7525571 1 9576675 [A/G] exm2264798 1 9579964 [A/G] rs12124860 1 9627103 [A/G] NM_032315 SLC25A33 Silent 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 rs9430174 1 9647137 [A/G] exm12212 1 9655965 [T/C] NM_001130924,NM_001010866 TMEM201,TMEM201 EXON Missense_T44M,Missense_T44M exm12224 1 9657005 [T/C] NM_001130924,NM_001010866 TMEM201,TMEM201 EXON Missense_S108L,Missense_S108L exm12227 1 9657037 [G/C] NM_001130924,NM_001010866 TMEM201,TMEM201 EXON Missense_L119V,Missense_L119V exm12231 1 9657103 [T/C] NM_001130924,NM_001010866 TMEM201,TMEM201 EXON Missense_R141C,Missense_R141C exm12238 1 9658519 [A/G] NM_001130924,NM_001010866 TMEM201,TMEM201 EXON Missense_E148K,Missense_E148K exm12242 1 9658657 [T/C] NM_001130924,NM_001010866 TMEM201,TMEM201 EXON Missense_R194W,Missense_R194W rs9430182 1 9658707 [A/G] NM_001130924,NM_001010866 TMEM201,TMEM201 Silent,Silent exm12249 1 9661175 [A/G] NM_001130924,NM_001010866 TMEM201,TMEM201 EXON Missense_A207T,Missense_A207T exm12259 1 9661332 [A/C] NM_001130924,NM_001010866 TMEM201,TMEM201 EXON Missense_T259K,Missense_T259K exm12269 1 9661454 [A/G] NM_001130924,NM_001010866 TMEM201,TMEM201 EXON Missense_V300I,Missense_V300I exm2234040 1 9661506 [A/G] NM_001130924,NM_001010866 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 rs4076986 1 9688512 [A/G] rs9430506 1 9693988 [T/C] rs11121465 1 9696690 [A/G] rs12028233 1 9699768 [A/G] rs4129341 1 9704925 [T/G] rs6540985 1 9708688 [A/G] rs7518793 1 9711487 [T/C] rs4240895 1 9713386 [T/C] NM_005026,NR_027045 PIK3CD,C1orf200 EXON Silent,Silent variant.673 1 9713899 [A/G] NM_005026,NR_027045 PIK3CD,C1orf200 EXON Silent,Silent rs6671868 1 9729599 [A/G] NM_005026 PIK3CD Silent rs4333853 1 9741792 [A/G] NM_005026 PIK3CD Silent rs6677649 1 9746248 [A/G] NM_005026 PIK3CD Silent 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 rs7550295 1 9804693 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Missense_A322T,Missense_A332T rs10779732 1 9811541 [A/G] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Synonymous_V203V,Synonymous_V213V var_1_9811597 1 9811597 [A/G] NM_014944,NM_001009566 CLSTN1,CLSTN1 EXON Nonsense_Q185X,Nonsense_Q195X 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 rs10746492 1 9842576 [T/C] NM_014944,NM_001009566 CLSTN1,CLSTN1 Silent,Silent rs12083800 1 9856826 [T/G] NM_014944,NM_001009566 CLSTN1,CLSTN1 Silent,Silent rs6666296 1 9890158 [T/C] rs7539650 1 9909721 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Silent,Silent exm1958443 1 9910795 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 EXON Missense_T76M,Missense_T76M rs1220405 1 9922245 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent rs2278611 1 9923101 [A/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent rs7537879 1 9926020 [T/C] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent 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 indel.686 1 9932147 [I/D] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 rs6541068 1 9933281 [T/G] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent rs12128766 1 9937041 [T/C] NM_020248,NM_001012329 CTNNBIP1,CTNNBIP1 Silent,Silent rs11828 1 9987007 [T/C] exm12689 1 9991952 [A/G] NM_032368 LZIC EXON Missense_L171F exm12694 1 9992024 [G/C] NM_032368 LZIC EXON Missense_A147P indel.687 1 9994823 [I/D] NM_032368 LZIC EXON exm12699 1 9994845 [T/C] NM_032368 LZIC EXON Missense_G104D exm1958934 1 9996684 [T/C] NM_032368 LZIC EXON Silent rs12064822 1 10008191 [A/G] NM_022787 NMNAT1 Silent rs6683452 1 10029913 [A/G] NM_022787 NMNAT1 Silent variant.688 1 10042426 [A/G] NM_022787 NMNAT1 EXON Nonsense_W169X 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 rs3003376 1 10071301 [T/C] NM_052960 RBP7 Silent indel.691 1 10075866 [I/D] NM_052960 RBP7 EXON rs11803995 1 10094313 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent kgp7252079 1 10118778 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs7539725 1 10125407 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs9430244 1 10155283 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent 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 rs12076922 1 10165301 [T/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent 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 rs6673887 1 10193821 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent 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 rs6659436 1 10219202 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs9782879 1 10231985 [A/G] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent rs7418410 1 10236402 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent newrs150907063 1 10238878 [T/C] NM_001105562,NM_006048 UBE4B,UBE4B Silent,Silent exm12901 1 10239569 [C/G] NM_001105562,NM_006048 UBE4B,UBE4B EXON Missense_P1266A,Missense_P1137A rs4348727 1 10265606 [A/G] exm2264799 1 10285709 [A/G] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent rs17034615 1 10311877 [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 rs912963 1 10348042 [T/C] NM_015074,NM_183416 KIF1B,KIF1B Silent,Silent 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 indel.697 1 10364528 [D/I] NM_015074,NM_183416 KIF1B,KIF1B EXON 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 rs17410217 1 10371854 [A/G] NM_015074 KIF1B Silent 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 variant.699 1 10394696 [A/G] NM_015074 KIF1B EXON Missense_A969T 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 variant.700 1 10403350 [A/G] NM_015074 KIF1B Silent newrs121908163 1 10406001 [T/C] NM_015074 KIF1B EXON Missense_P1217S exm13101 1 10412758 [A/C] NM_015074 KIF1B EXON Missense_S1294Y rs3748578 1 10420918 [A/G] NM_015074 KIF1B Silent exm13113 1 10421790 [T/C] NM_015074 KIF1B EXON Missense_V1358A variant.702 1 10421883 [T/C] NM_015074 KIF1B EXON Missense_S1389L 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 rs1536262 1 10438687 [T/C] NM_015074 KIF1B EXON Silent rs1002076 1 10438892 [A/G] NM_015074 KIF1B EXON Silent rs3748581 1 10441664 [T/C] rs4846217 1 10451799 [T/C] exm13180 1 10459761 [A/G] NM_002631 PGD EXON Synonymous_V28V rs4846219 1 10463888 [A/C] NM_002631 PGD Silent 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 indel.710 1 10478955 [D/I] NM_002631 PGD EXON rs2483679 1 10485019 [A/G] rs528713 1 10488555 [A/G] rs481571 1 10490881 [A/G] NM_199006,NM_198544,NM_199294,NM_001270517,NM_001243768,NR_036462,NR_037187 APITD1-CORT,APITD1-CORT,APITD1,APITD1-CORT,APITD1-CORT,APITD1,APITD1-CORT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs597441 1 10493415 [T/C] NM_199006,NM_198544,NM_199294,NM_001270517,NM_001243768,NR_036462,NR_037187 APITD1-CORT,APITD1-CORT,APITD1,APITD1-CORT,APITD1-CORT,APITD1,APITD1-CORT Silent,Silent,Silent,Silent,Silent,Silent,Silent exm13267 1 10493990 [T/C] NM_199006,NM_198544,NM_199294,NM_001270517,NM_001243768,NR_036462,NR_037187 APITD1-CORT,APITD1-CORT,APITD1,APITD1-CORT,APITD1-CORT,APITD1,APITD1-CORT EXON Missense_A48V,Missense_A48V,Missense_A48V,Missense_A48V,Silent,Silent,Silent newrs138619348 1 10494013 [T/C] NM_199006,NM_198544,NM_199294,NM_001270517,NM_001243768,NR_036462,NR_037187 APITD1-CORT,APITD1-CORT,APITD1,APITD1-CORT,APITD1-CORT,APITD1,APITD1-CORT EXON Nonsense_R56X,Nonsense_R56X,Nonsense_R56X,Nonsense_R56X,Silent,Silent,Silent exm13281 1 10502373 [T/C] NM_199006,NM_198544,NM_199294,NM_001270517,NM_001243768,NR_036462,NR_037187 APITD1-CORT,APITD1-CORT,APITD1,APITD1-CORT,APITD1-CORT,APITD1,APITD1-CORT EXON Silent,Silent,Nonsense_R110X,Nonsense_R110X,Silent,Silent,Silent exm13283 1 10502454 [A/G] NM_199006,NM_198544,NM_199294,NM_001270517,NM_001243768,NR_036462,NR_037187 APITD1-CORT,APITD1-CORT,APITD1,APITD1-CORT,APITD1-CORT,APITD1,APITD1-CORT EXON Silent,Silent,Missense_E137K,Missense_E137K,Silent,Silent,Silent rs2847337 1 10502710 [A/G] NM_199006,NM_198544,NM_199294,NM_001270517,NM_001243768,NR_036462,NR_037187 APITD1-CORT,APITD1-CORT,APITD1,APITD1-CORT,APITD1-CORT,APITD1,APITD1-CORT EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm13295 1 10511521 [A/G] NM_199006,NM_198544,NM_001270517,NM_001243768,NR_037187,NM_001302 APITD1-CORT,APITD1-CORT,APITD1-CORT,APITD1-CORT,APITD1-CORT,CORT EXON Silent,Missense_G122R,Silent,Missense_G101R,Silent,Missense_G63R exm13304 1 10511596 [T/C] NM_199006,NM_198544,NM_001270517,NM_001243768,NR_037187,NM_001302 APITD1-CORT,APITD1-CORT,APITD1-CORT,APITD1-CORT,APITD1-CORT,CORT EXON Silent,Missense_R147W,Silent,Missense_R126W,Silent,Missense_R88W exm13311 1 10521629 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Silent,Missense_S305F exm13313 1 10521644 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Silent,Missense_T300M exm13315 1 10521656 [T/C] NM_213566,NM_004401 DFFA,DFFA EXON Silent,Missense_R296H exm13316 1 10521657 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Silent,Missense_R296C exm13325 1 10523133 [T/A] NM_213566,NM_004401 DFFA,DFFA EXON Missense_L255F,Missense_L255F exm13329 1 10523191 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Missense_A236V,Missense_A236V exm13330 1 10523195 [T/C] NM_213566,NM_004401 DFFA,DFFA EXON Missense_V235I,Missense_V235I exm13338 1 10523617 [T/C] NM_213566,NM_004401 DFFA,DFFA EXON Missense_V168I,Missense_V168I exm13339 1 10523626 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Missense_C165R,Missense_C165R exm13341 1 10523665 [T/C] NM_213566,NM_004401 DFFA,DFFA EXON Missense_A152T,Missense_A152T rs6667629 1 10524467 [T/C] NM_213566,NM_004401 DFFA,DFFA Silent,Silent exm13349 1 10529326 [A/G] NM_213566,NM_004401 DFFA,DFFA EXON Missense_I69T,Missense_I69T exm13355 1 10532442 [A/C] NM_213566,NM_004401 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 rs9970001 1 10543836 [A/G] NM_004565 PEX14 Silent variant.726 1 10555378 [A/G] NM_004565 PEX14 EXON Synonymous_L28L indel.727 1 10555379 [I/D] NM_004565 PEX14 rs2506901 1 10563492 [A/G] NM_004565 PEX14 Silent rs2056417 1 10581658 [A/G] NM_004565 PEX14 Silent rs2483678 1 10582047 [T/C] NM_004565 PEX14 Silent rs2480789 1 10585046 [T/C] NM_004565 PEX14 Silent variant.728 1 10596294 [T/C] NM_004565 PEX14 EXON Nonsense_Q37X rs17035189 1 10597024 [A/G] NM_004565 PEX14 Silent rs12120962 1 10609505 [A/G] NM_004565 PEX14 Silent rs10157111 1 10613344 [T/G] NM_004565 PEX14 Silent rs12565494 1 10629562 [A/G] NM_004565 PEX14 Silent exm-rs12741973 1 10638604 [T/C] NM_004565 PEX14 Silent rs6540940 1 10651460 [T/C] NM_004565 PEX14 Silent exm13373 1 10659333 [T/G] NM_004565 PEX14 EXON Missense_S70A rs3790630 1 10673094 [T/C] NM_004565 PEX14 Silent 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 rs190775 1 10683683 [T/G] NM_004565 PEX14 Silent 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 rs778228 1 10708142 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Synonymous_F1071F,Synonymous_F1071F 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 rs284322 1 10725498 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Synonymous_D49D,Synonymous_D49D exm13724 1 10725572 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 EXON Missense_R25C,Missense_R25C rs284307 1 10739255 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs284262 1 10743363 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs516243 1 10750432 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs7514751 1 10762432 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs284277 1 10790797 [A/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs880315 1 10796866 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent 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 rs2076492 1 10808587 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs205478 1 10811672 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs205488 1 10827135 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs205474 1 10832861 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs6658023 1 10847340 [T/C] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs1737617 1 10850798 [A/G] NM_001079843,NM_017766 CASZ1,CASZ1 Silent,Silent rs1750861 1 10869052 [A/C] rs7555879 1 10890026 [A/G] rs661352 1 10890155 [T/G] exm2249489 1 10890771 [A/G] rs1292657 1 10893081 [A/G] rs6682973 1 10905544 [T/C] rs672270 1 10907842 [A/C] rs550887 1 10920576 [T/C] rs1280988 1 10924710 [A/G] rs6677198 1 10934895 [A/G] rs6660223 1 10938897 [T/C] rs11586137 1 10940895 [A/C] rs7543908 1 10947553 [T/C] rs6670956 1 10957719 [A/C] rs10157927 1 10974329 [T/G] rs6540954 1 10977102 [T/G] rs1280971 1 10978316 [A/G] rs12748162 1 10986308 [A/C] rs9803711 1 10996382 [A/G] rs1925666 1 10999600 [T/C] rs6656310 1 11002488 [T/C] rs6666764 1 11005495 [T/C] 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 exm13773 1 11008295 [A/G] NM_001170754 C1orf127 EXON Missense_P633S rs10864483 1 11008341 [A/G] NM_001170754 C1orf127 EXON Synonymous_C617C 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 rs17036032 1 11008695 [T/C] NM_001170754 C1orf127 EXON Synonymous_P499P exm13802 1 11008700 [A/G] NM_001170754 C1orf127 EXON Missense_R498C exm13809 1 11008762 [A/G] NM_001170754 C1orf127 EXON Missense_T477I 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 rs1281012 1 11009703 [T/C] NM_001170754 C1orf127 EXON Missense_R423Q 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 rs11121657 1 11013286 [A/G] NM_001170754 C1orf127 Silent 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 var_1_11015136 1 11015136 [A/G] NM_001170754 C1orf127 EXON Nonsense_R296X exm13854 1 11015165 [A/G] NM_001170754 C1orf127 EXON Missense_I286T exm2249513 1 11017141 [A/G] NM_001170754 C1orf127 EXON Synonymous_L239L exm13855 1 11017141 [A/G] NM_001170754 C1orf127 EXON Synonymous_L239L exm13856 1 11017163 [A/G] NM_001170754 C1orf127 EXON Missense_V232A rs6685896 1 11022020 [T/C] NM_001170754 C1orf127 Silent exm2259679 1 11029478 [T/G] NM_001170754 C1orf127 Silent rs2003046 1 11032827 [A/C] NM_001170754 C1orf127 Silent rs12565727 1 11033082 [A/G] NM_001170754 C1orf127 Silent rs11121667 1 11038476 [T/C] NM_001170754 C1orf127 Silent rs9430161 1 11046855 [T/G] rs6704113 1 11053101 [A/G] rs11121675 1 11060075 [T/G] rs11121676 1 11063043 [T/C] rs9430335 1 11072117 [T/C] exm13889 1 11076931 [T/C] NM_007375 TARDBP EXON Missense_A90V rs2273348 1 11079077 [A/G] NM_007375 TARDBP Silent 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 indel.751 1 11087318 [I/D] NM_006610 MASP2 EXON newrs137990115 1 11087334 [A/C] NM_006610 MASP2 EXON Nonsense_E557X exm1694083 1 11087337 [T/C] NM_006610 MASP2 EXON Missense_K556E indel.754 1 11087344 [D/I] NM_006610 MASP2 EXON indel.755 1 11087488 [I/D] NM_006610 MASP2 EXON 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 rs2273346 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 indel.760 1 11103004 [D/I] NM_006610 MASP2 EXON rs3765901 1 11104676 [A/G] NM_006610 MASP2 Silent 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 rs12121344 1 11111629 [T/C] exm14076 1 11115126 [T/C] NM_003132 SRM EXON Missense_E261K exm1694537 1 11115844 [G/C] NM_003132 SRM EXON Missense_K253N rs2261217 1 11127764 [A/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 Silent,Silent exm1694875 1 11128123 [A/T] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Nonsense_K832X,Nonsense_K857X exm14113 1 11128712 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_P822L,Missense_P847L newrs192329748 1 11128770 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 Silent,Silent exm14118 1 11129649 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_D794N,Missense_D819N rs2791653 1 11129848 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 Silent,Silent exm14124 1 11130974 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_V742I,Missense_V767I exm14134 1 11134005 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Silent,Missense_T715A exm14137 1 11134043 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Silent,Missense_R702H exm14187 1 11141195 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_G461R,Missense_G461R exm14190 1 11141228 [T/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_K450Q,Missense_K450Q exm14196 1 11142745 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_R427H,Missense_R427H exm14200 1 11142844 [A/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_R394L,Missense_R394L var_1_11147637 1 11147637 [T/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Nonsense_Y319X,Nonsense_Y319X exm2249583 1 11150667 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Synonymous_P234P,Synonymous_P234P exm14241 1 11151554 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_R158H,Missense_R158H exm14250 1 11158105 [T/C] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_E74K,Missense_E74K exm14254 1 11158209 [A/G] NM_002685,NM_001001998 EXOSC10,EXOSC10 EXON Missense_A39V,Missense_A39V exm14259 1 11159851 [A/G] NM_002685,NM_001001998 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 1KG_1_11193226 1 11193226 [D/I] NM_004958 MTOR EXON 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 rs12122605 1 11248020 [T/C] NM_004958 MTOR 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 indel.779 1 11269480 [I/D] NM_004958 MTOR EXON 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 rs2076655 1 11289161 [A/G] NM_004958 MTOR Silent 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 rs7525957 1 11318236 [T/C] NM_004958 MTOR Silent 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 rs3765906 1 11347092 [T/C] NM_013319 UBIAD1 EXON Silent rs2982380 1 11395283 [A/C] exm2259729 1 11395416 [A/G] exm2263813 1 11400409 [A/C] rs2982384 1 11401745 [A/G] rs10864498 1 11409469 [A/G] rs2335404 1 11435942 [T/C] rs2788557 1 11439588 [A/G] rs3010208 1 11444975 [T/C] rs12094886 1 11456536 [A/G] rs6671983 1 11461601 [A/G] rs11121728 1 11468442 [T/C] rs10864504 1 11476203 [A/G] rs10864505 1 11477294 [T/C] rs2077480 1 11488203 [T/G] rs877309 1 11489678 [A/G] rs2922240 1 11493832 [T/C] rs2379151 1 11494573 [A/G] rs7414229 1 11498299 [T/C] rs2379159 1 11504514 [T/C] rs12026602 1 11518397 [T/C] rs11121742 1 11520653 [T/G] rs12046038 1 11525533 [A/G] rs10159458 1 11534053 [A/C] rs7555562 1 11542957 [A/C] NM_020780 PTCHD2 Silent rs7534208 1 11554687 [T/C] NM_020780 PTCHD2 Silent 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 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 rs12144924 1 11561937 [T/C] NM_020780 PTCHD2 EXON Synonymous_V296V rs2745265 1 11574942 [T/C] NM_020780 PTCHD2 Silent 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 rs2076469 1 11584164 [A/G] NM_020780 PTCHD2 Silent 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 rs2235660 1 11595331 [A/G] NM_020780 PTCHD2 Silent exm2249707 1 11595659 [T/C] NM_020780 PTCHD2 EXON Synonymous_G1258G rs2594310 1 11596455 [T/C] NM_020780 PTCHD2 EXON Synonymous_A1297A rs2817619 1 11603063 [T/C] rs2745291 1 11607932 [A/G] rs11808316 1 11619154 [T/C] rs2745285 1 11626858 [T/C] rs2745276 1 11641283 [A/G] rs7530509 1 11654491 [A/G] rs761087 1 11656684 [A/G] rs761084 1 11660710 [T/C] rs4846019 1 11665575 [A/G] rs734737 1 11675059 [T/G] rs10779763 1 11690766 [A/C] rs6671295 1 11698902 [A/G] rs6540987 1 11703843 [A/G] 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_033182,NM_001014765 FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_P85L,Missense_P85L,Missense_P85L,Missense_P85L exm14893 1 11718390 [A/G] NM_183412,NM_183413,NM_033182,NM_001014765 FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_R111Q,Missense_R111Q,Missense_R111Q,Missense_R111Q exm14902 1 11718797 [A/G] NM_183412,NM_183413,NM_033182,NM_001014765 FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_R123H,Missense_R123H,Missense_A165T,Missense_A165T exm14903 1 11718819 [T/C] NM_183412,NM_183413,NM_033182,NM_001014765 FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_V130V,Synonymous_V130V,Missense_S172F,Missense_S172F exm14906 1 11718859 [T/C] NM_183412,NM_183413,NM_033182,NM_001014765 FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_R144C,Missense_R144C,Synonymous_H185H,Synonymous_H185H exm14907 1 11718861 [T/C] NM_183412,NM_183413,NM_033182,NM_001014765 FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_R144R,Synonymous_R144R,Missense_A186V,Missense_A186V exm14909 1 11718907 [A/G] NM_183412,NM_183413,NM_033182,NM_001014765 FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_E160K,Missense_E160K,Synonymous_K201K,Synonymous_K201K exm14912 1 11721213 [A/G] NM_183412,NM_183413,NM_033182,NM_001014765 FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_A176T,Missense_A176T,Synonymous_P217P,Synonymous_P217P exm1703362 1 11721271 [A/G] NM_183412,NM_183413,NM_033182,NM_001014765 FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_R195Q,Missense_R195Q,Missense_G237S,Missense_G237S exm14924 1 11721315 [A/G] NM_183412,NM_183413,NM_033182,NM_001014765 FBXO44,FBXO44,FBXO44,FBXO44 EXON Missense_A210T,Missense_A210T,Synonymous_G251G,Synonymous_G251G exm14925 1 11721320 [T/C] NM_183412,NM_183413,NM_033182,NM_001014765 FBXO44,FBXO44,FBXO44,FBXO44 EXON Synonymous_P211P,Synonymous_P211P,Missense_P253L,Missense_P253L rs2294641 1 11721854 [T/C] NM_183412,NM_183413,NM_033182,NM_001014765 FBXO44,FBXO44,FBXO44,FBXO44 EXON Silent,Silent,Silent,Silent rs3820340 1 11723520 [A/G] 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 rs2233025 1 11735652 [A/G] NM_001127325,NM_006341 MAD2L2,MAD2L2 Silent,Silent rs2336030 1 11736600 [T/C] NM_001127325,NM_006341 MAD2L2,MAD2L2 Silent,Silent exm15012 1 11736959 [T/C] NM_001127325,NM_006341 MAD2L2,MAD2L2 EXON Missense_R93H,Missense_R93H rs7539455 1 11754168 [T/G] NM_198545 DRAXIN Silent rs1534991 1 11761252 [T/C] NM_198545 DRAXIN Silent rs9430624 1 11763677 [A/G] NM_198545 DRAXIN Silent 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 rs9430631 1 11774956 [T/C] NM_198545 DRAXIN Silent exm15106 1 11775178 [T/A] NM_198545 DRAXIN EXON Missense_T284S rs4846029 1 11783484 [T/G] exm-rs4846033 1 11788564 [A/G] exm15135 1 11806234 [C/G] NM_001040195,NM_001040194,NM_001040197,NM_001040196,NM_020350 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Silent,Silent,Missense_T38S,Missense_T38S,Silent exm15144 1 11807576 [T/C] NM_001040195,NM_001040194,NM_001040197,NM_001040196,NM_020350 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_A36V,Missense_R48W,Missense_A80V,Missense_A80V,Missense_R48W exm15146 1 11807600 [A/G] NM_001040195,NM_001040194,NM_001040197,NM_001040196,NM_020350 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_H44R,Missense_M56V,Missense_H88R,Missense_H88R,Missense_M56V exm15152 1 11808550 [A/G] NM_001040195,NM_001040194,NM_001040197,NM_001040196,NM_020350 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_G71E,Missense_D83N,Missense_G115E,Missense_G115E,Missense_D83N exm15153 1 11808560 [A/G] NM_001040195,NM_001040194,NM_001040197,NM_001040196,NM_020350 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Synonymous_P74P,Missense_R86H,Synonymous_P118P,Synonymous_P118P,Missense_R86H exm15156 1 11808602 [T/C] NM_001040195,NM_001040194,NM_001040197,NM_001040196,NM_020350 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Synonymous_A88A,Missense_P100L,Synonymous_A132A,Synonymous_A132A,Missense_P100L variant.827 1 11810151 [T/C] NM_001040195,NM_001040194,NM_001040197,NM_001040196,NM_020350 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Missense_S109L,Nonsense_Q121X,Silent,Missense_S153L,Nonsense_Q128X exm15168 1 11810197 [T/C] NM_001040195,NM_001040194,NM_001040197,NM_001040196,NM_020350 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Silent,Missense_A136V,Silent,Silent,Missense_A143V rs8617 1 11810505 [T/C] NM_001040195,NM_001040194,NM_001040197,NM_001040196,NM_020350 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Silent,Silent,Silent,Silent,Silent rs1128059 1 11810674 [A/G] NM_001040195,NM_001040194,NM_001040197,NM_001040196,NM_020350 AGTRAP,AGTRAP,AGTRAP,AGTRAP,AGTRAP EXON Silent,Silent,Silent,Silent,Silent rs4075034 1 11810973 [A/G] rs4845877 1 11824303 [T/C] rs4845881 1 11828319 [A/G] rs12132479 1 11836450 [A/G] rs4846042 1 11837299 [A/C] rs4846048 1 11846252 [A/G] NM_005957 MTHFR EXON 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 rs1476413 1 11852300 [T/C] NM_005957 MTHFR Silent exm15254 1 11852411 [A/C] NM_005957 MTHFR EXON Missense_R519L exm15255 1 11852412 [A/G] NM_005957 MTHFR EXON Missense_R519C 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 newrs121434296 1 11854823 [A/G] NM_005957 MTHFR EXON Missense_R377C exm15296 1 11855248 [C/G] NM_005957 MTHFR EXON Missense_G313A exm15298 1 11855279 [T/C] NM_005957 MTHFR EXON Missense_V303M newrs147750177 1 11855351 [A/C] NM_005957 MTHFR EXON Nonsense_E279X 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 rs3737964 1 11867044 [T/C] NR_046428,NM_001286,NM_001256959 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent rs4846054 1 11869230 [T/C] NR_046428,NM_001286,NM_001256959 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent 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 rs7537765 1 11887303 [A/G] NR_046428,NM_001286,NM_001256959 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent 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 1KG_1_11893660 1 11893660 [D/I] NR_046428,NM_001286,NM_001256959 CLCN6,CLCN6,CLCN6 EXON 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 variant.859 1 11894624 [A/G] NR_046428,NM_001286,NM_001256959 CLCN6,CLCN6,CLCN6 EXON Silent,Nonsense_W590X,Nonsense_W568X exm-rs1023252 1 11899033 [T/G] NR_046428,NM_001286,NM_001256959 CLCN6,CLCN6,CLCN6 Silent,Silent,Silent rs198415 1 11901592 [T/C] NR_046428,NM_001286,NM_001256959,NR_037806 CLCN6,CLCN6,CLCN6,NPPA-AS1 EXON Silent,Silent,Silent,Silent rs5065 1 11906068 [A/G] NR_037806,NM_006172 NPPA-AS1,NPPA EXON Silent,Missense_X152R 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 indel.864 1 11907478 [D/I] NR_037806,NM_006172 NPPA-AS1,NPPA EXON 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 rs198389 1 11919271 [A/G] rs6676300 1 11925300 [A/G] rs9661078 1 11936324 [A/C] rs7554327 1 11937404 [T/C] exm2264801 1 11938050 [A/G] rs6667637 1 11947957 [A/G] rs17037520 1 11952406 [T/C] rs1999594 1 11959216 [A/G] rs926269 1 11969748 [T/C] rs7554547 1 11973888 [A/G] rs2038028 1 11979556 [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 rs4846080 1 12004999 [A/G] NM_000302 PLOD1 Silent exm15695 1 12008093 [A/G] NM_000302 PLOD1 EXON Missense_R46H rs2336379 1 12008863 [A/G] NM_000302 PLOD1 Silent 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 rs2273285 1 12010469 [T/G] NM_000302 PLOD1 EXON Missense_A120S 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 rs2273289 1 12018290 [T/C] NM_000302 PLOD1 Silent exm15769 1 12023632 [A/G] NM_000302 PLOD1 EXON Missense_V381M rs7514577 1 12024235 [T/C] NM_000302 PLOD1 EXON Synonymous_N402N exm15784 1 12024350 [T/C] NM_000302 PLOD1 EXON Missense_R441W rs2273291 1 12025353 [T/C] NM_000302 PLOD1 Silent 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 rs3818157 1 12027308 [A/G] NM_000302 PLOD1 Silent 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_014874,NM_001127660 MFN2,MFN2 EXON Missense_H20Y,Missense_H20Y variant.880 1 12059084 [T/C] NM_014874,NM_001127660 MFN2,MFN2 EXON Missense_R250W,Missense_R250W newrs140234726 1 12059085 [A/G] NM_014874,NM_001127660 MFN2,MFN2 EXON Missense_R250Q,Missense_R250Q exm15862 1 12059085 [A/G] NM_014874,NM_001127660 MFN2,MFN2 EXON Missense_R250Q,Missense_R250Q rs2295281 1 12059412 [T/C] NM_014874,NM_001127660 MFN2,MFN2 Silent,Silent exm15866 1 12061483 [G/C] NM_014874,NM_001127660 MFN2,MFN2 EXON Missense_C281S,Missense_C281S exm15872 1 12061533 [A/G] NM_014874,NM_001127660 MFN2,MFN2 EXON Missense_G298R,Missense_G298R rs2236057 1 12062205 [A/G] NM_014874,NM_001127660 MFN2,MFN2 Silent,Silent exm15886 1 12064067 [A/G] NM_014874,NM_001127660 MFN2,MFN2 EXON Missense_M393I,Missense_M393I exm15888 1 12064087 [A/G] NM_014874,NM_001127660 MFN2,MFN2 EXON Missense_R400Q,Missense_R400Q exm15895 1 12064892 [A/G] NM_014874,NM_001127660 MFN2,MFN2 EXON Missense_R468H,Missense_R468H exm15908 1 12065846 [A/G] NM_014874,NM_001127660 MFN2,MFN2 EXON Missense_N525S,Missense_N525S exm15909 1 12065883 [C/G] NM_014874,NM_001127660 MFN2,MFN2 EXON Missense_F537L,Missense_F537L 1KG_1_12066749 1 12066749 [D/I] NM_014874,NM_001127660 MFN2,MFN2 EXON exm15928 1 12069692 [A/G] NM_014874,NM_001127660 MFN2,MFN2 EXON Missense_V705I,Missense_V705I exm15929 1 12069698 [T/C] NM_014874,NM_001127660 MFN2,MFN2 EXON Missense_R707W,Missense_R707W exm15931 1 12069725 [A/G] NM_014874,NM_001127660 MFN2,MFN2 EXON Missense_A716T,Missense_A716T indel.888 1 12069757 [I/D] NM_014874,NM_001127660 MFN2,MFN2 EXON rs730123 1 12070292 [A/G] NM_014874,NM_001127660 MFN2,MFN2 Silent,Silent 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 rs11588779 1 12082881 [T/C] NM_021933 MIIP Silent rs2295283 1 12082926 [A/G] NM_021933 MIIP EXON Missense_K167E 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 rs12042105 1 12105048 [T/C] rs6665486 1 12117901 [A/G] rs12029016 1 12128498 [A/G] NM_001243 TNFRSF8 Silent rs6690493 1 12135526 [A/G] NM_001243 TNFRSF8 Silent exm16049 1 12164451 [A/G] NM_001243 TNFRSF8 EXON Missense_K95R rs12092682 1 12166855 [T/G] NM_001243 TNFRSF8 Silent 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 rs501525 1 12180805 [T/C] NM_001243 TNFRSF8 Silent rs2486316 1 12183245 [T/G] NM_001243 TNFRSF8 Silent exm16104 1 12183362 [A/C] NM_001243 TNFRSF8 EXON Missense_T323N rs17422381 1 12184423 [A/G] NM_001243 TNFRSF8 Silent 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 rs1201122 1 12188482 [A/G] NM_001243,NM_152942 TNFRSF8,TNFRSF8 Silent,Silent exm2264802 1 12189561 [A/G] NM_001243,NM_152942 TNFRSF8,TNFRSF8 Silent,Silent rs1148472 1 12194451 [T/C] 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 rs630542 1 12206866 [T/G] rs1148460 1 12216488 [A/C] rs945439 1 12248942 [A/G] NM_001066 TNFRSF1B EXON Synonymous_K56K 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 rs5746059 1 12262792 [A/G] NM_001066 TNFRSF1B Silent exm16227 1 12266883 [T/C] NM_001066 TNFRSF1B EXON Missense_S398P exm16242 1 12294420 [C/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G33R,Missense_G33R exm16247 1 12304303 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G59D,Missense_G59D exm16253 1 12304403 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_E92D,Missense_E92D variant.907 1 12304676 [T/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm2264987 1 12305286 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs374450 1 12305286 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16261 1 12309291 [A/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_Q153H,Missense_Q153H exm16263 1 12309350 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G173D,Missense_G173D exm16264 1 12309363 [C/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_K177N,Missense_K177N exm16270 1 12313827 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_I205V,Missense_I205V exm16276 1 12316393 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_A225T,Missense_A225T exm16283 1 12316432 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_V238I,Missense_V238I rs235246 1 12316584 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16290 1 12317102 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_V300G,Missense_V300G exm16293 1 12317113 [A/T] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R304W,Missense_R304W variant.909 1 12318010 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Nonsense_Y320X,Nonsense_Y320X exm16297 1 12318027 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_N326S,Missense_N326S exm16298 1 12318056 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R336C,Missense_R336C exm16299 1 12318057 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R336H,Missense_R336H exm16306 1 12318153 [T/A] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_D368V,Missense_D368V exm16307 1 12320753 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_E372K,Missense_E372K exm16319 1 12321140 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_E450K,Missense_E450K newrs190463258 1 12321211 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16329 1 12322081 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_K513R,Missense_K513R variant.912 1 12322142 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16342 1 12328811 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_P617L,Missense_P617L rs3765339 1 12329295 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent newrs141962208 1 12331182 [T/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16356 1 12333084 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R710W,Missense_R710W exm1706232 1 12333085 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R710Q,Missense_R710Q exm1706233 1 12333136 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_K727R,Missense_K727R exm1706252 1 12336034 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_V797I,Missense_V797I exm16369 1 12336098 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_S818L,Missense_S818L exm16371 1 12336134 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R830Q,Missense_R830Q exm2249773 1 12336147 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Synonymous_N834N,Synonymous_N834N variant.914 1 12336193 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Nonsense_E850X,Nonsense_E850X exm16384 1 12336481 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R946C,Missense_R946C exm16397 1 12336751 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R1036W,Missense_R1036W exm1706260 1 12336785 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_P1047L,Missense_P1047L exm16404 1 12336823 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_D1060N,Missense_D1060N exm16429 1 12337667 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_S1341L,Missense_S1341L exm16432 1 12337694 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R1350Q,Missense_R1350Q exm16439 1 12337888 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_D1415N,Missense_D1415N exm16448 1 12338083 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_H1480Y,Missense_H1480Y exm16450 1 12339619 [T/A] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_E1505V,Missense_E1505V rs3765337 1 12342599 [T/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent variant.915 1 12342760 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16460 1 12342990 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_E1611K,Missense_E1611K exm16461 1 12343030 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_I1624T,Missense_I1624T exm16480 1 12343493 [T/A] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_S1778R,Missense_S1778R 1KG_1_12343587 1 12343587 [I/D] NM_015378,NM_018156 VPS13D,VPS13D EXON exm16487 1 12343686 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_A1843T,Missense_A1843T variant.916 1 12343793 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Synonymous_K1878K,Synonymous_K1878K exm16514 1 12353732 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2002C,Missense_R2002C rs7523900 1 12363811 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16528 1 12364649 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_H2101Q,Missense_H2101Q exm16529 1 12364656 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G2104R,Missense_G2104R exm16531 1 12364666 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T2107M,Missense_T2107M exm16532 1 12364696 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_S2117N,Missense_S2117N exm16534 1 12364752 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T2136A,Missense_T2136A exm16548 1 12371603 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2248H,Missense_R2248H exm16570 1 12378223 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_H2415Y,Missense_H2415Y exm16571 1 12378274 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2432C,Missense_R2432C exm16577 1 12379557 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T2473M,Missense_T2473M exm16584 1 12379656 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2506H,Missense_R2506H exm16589 1 12382704 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_A2606T,Missense_A2606T exm16592 1 12382749 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2621C,Missense_R2621C exm16598 1 12383814 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2656H,Missense_R2656H exm16603 1 12387776 [A/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T2688P,Missense_T2688P exm16605 1 12387797 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_A2695S,Missense_A2695S exm16606 1 12387807 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_A2698V,Missense_A2698V rs28533750 1 12391953 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16623 1 12393346 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2784H,Missense_R2784H exm16626 1 12393403 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_N2803S,Missense_N2803S exm1706360 1 12398297 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_L2854R,Silent exm16635 1 12401857 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R2883C,Missense_R2858C exm16671 1 12409403 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_M3135V,Missense_M3110V exm16682 1 12416013 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_Q3246R,Missense_Q3221R exm16687 1 12416075 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R3267W,Missense_R3242W exm2249775 1 12418521 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Synonymous_T3335T,Synonymous_T3310T exm16693 1 12418521 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Synonymous_T3335T,Synonymous_T3310T exm16709 1 12423273 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_N3473S,Missense_N3448S exm16710 1 12423276 [A/T] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_K3474M,Missense_K3449M exm16715 1 12428632 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_D3520Y,Missense_D3495Y exm16718 1 12429585 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_M3546V,Missense_M3521V exm16722 1 12429702 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R3585W,Missense_R3560W exm16730 1 12438584 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R3674C,Missense_R3649C exm1706546 1 12443168 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_M3775T,Missense_M3750T exm16748 1 12445337 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R3797W,Missense_R3772W exm16750 1 12445350 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_R3801H,Missense_R3776H exm16752 1 12445407 [A/T] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_N3820I,Missense_N3795I exm16755 1 12446332 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_N3858S,Missense_N3833S exm16759 1 12460315 [C/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_I3904M,Missense_I3879M rs7547740 1 12463073 [A/G] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent rs11801678 1 12467620 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16782 1 12475249 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_N4047S,Missense_N4022S exm1706632 1 12476744 [T/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_G4066V,Missense_G4041V rs6660365 1 12480504 [T/C] NM_015378,NM_018156 VPS13D,VPS13D Silent,Silent exm16791 1 12520282 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_I4165V,Missense_I4140V exm16797 1 12520436 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_T4216I,Missense_T4191I exm16804 1 12566989 [A/G] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_V4293M,Missense_V4268M exm16808 1 12567127 [G/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_P4339A,Missense_P4314A exm16816 1 12568968 [T/C] NM_015378,NM_018156 VPS13D,VPS13D EXON Missense_L4353F,Missense_L4328F rs12129750 1 12573823 [A/G] rs7521256 1 12600396 [T/C] rs6541027 1 12605011 [T/C] rs4845904 1 12619096 [A/G] rs6541035 1 12620545 [T/C] rs10864570 1 12625101 [T/C] rs4846118 1 12626549 [T/C] rs4997711 1 12627680 [T/G] kgp15181256 1 12627990 [T/C] NM_004753 DHRS3 EXON Silent kgp15637314 1 12628067 [A/C] NM_004753 DHRS3 EXON Silent rs4580 1 12628188 [T/C] NM_004753 DHRS3 EXON Silent exm16821 1 12628440 [T/C] NM_004753 DHRS3 EXON Missense_A280T exm16824 1 12632769 [T/C] NM_004753 DHRS3 EXON Missense_V271I 1KG_1_12632789 1 12632789 [I/D] NM_004753 DHRS3 EXON exm16827 1 12632837 [T/C] NM_004753 DHRS3 EXON Missense_R248Q rs4845907 1 12637160 [A/G] NM_004753 DHRS3 Silent exm16834 1 12638804 [T/C] NM_004753 DHRS3 EXON Missense_A214T GA000260 1 12638833 [A/G] NM_004753 DHRS3 EXON Missense_L204P exm16842 1 12638918 [T/C] NM_004753 DHRS3 EXON Missense_V176M rs3128461 1 12639168 [A/G] NM_004753 DHRS3 Silent exm16854 1 12639389 [T/C] NM_004753 DHRS3 EXON Missense_S131G rs12128227 1 12640081 [T/C] NM_004753 DHRS3 Silent rs11540058 1 12640650 [T/C] NM_004753 DHRS3 EXON Synonymous_T80T exm1706797 1 12640678 [T/C] NM_004753 DHRS3 EXON Missense_R71Q rs12029485 1 12642243 [T/G] NM_004753 DHRS3 Silent rs7535209 1 12650076 [T/C] NM_004753 DHRS3 Silent rs12045736 1 12654035 [T/C] NM_004753 DHRS3 Silent rs4846127 1 12663774 [T/C] NM_004753 DHRS3 Silent rs4394668 1 12671229 [T/C] NM_004753 DHRS3 Silent rs5022242 1 12671703 [T/C] NM_004753 DHRS3 Silent exm16868 1 12677188 [A/G] NM_004753 DHRS3 EXON Missense_R56C kgp7821980 1 12677525 [A/G] NM_004753 DHRS3 EXON Silent rs3000896 1 12682574 [T/C] rs6699993 1 12683190 [T/G] rs12070206 1 12689692 [A/G] variant.924 1 12711140 [A/G] NM_001013630 AADACL4 Silent 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 newrs138451476 1 12726174 [T/C] NM_001013630 AADACL4 EXON Nonsense_Q218X 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 rs2265709 1 12731572 [T/C] rs2265711 1 12734774 [A/G] rs2489260 1 12741240 [A/G] exm2259759 1 12753203 [T/C] rs3010948 1 12754569 [T/C] rs3000860 1 12776218 [A/C] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Silent,Silent exm16961 1 12776344 [T/A] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Silent,Missense_M1L rs3000858 1 12777320 [T/C] NM_001103170,NM_001103169 AADACL3,AADACL3 Silent,Silent exm16963 1 12779547 [T/C] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Missense_P23L,Silent exm16968 1 12779586 [A/G] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Missense_R36H,Silent exm16969 1 12779618 [T/C] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Missense_S47P,Silent exm16970 1 12779654 [A/G] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Missense_V59M,Silent exm16973 1 12779678 [A/G] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Missense_V67I,Silent variant.928 1 12779693 [A/G] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Missense_K72E,Silent exm16975 1 12780909 [A/G] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Missense_R80H,Missense_R10H exm16979 1 12785200 [T/C] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Missense_L97S,Missense_L27S exm16992 1 12785337 [A/G] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Missense_A143T,Missense_A73T exm16993 1 12785379 [T/C] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Missense_R157W,Missense_R87W exm16994 1 12785380 [A/G] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Missense_R157Q,Missense_R87Q variant.931 1 12785415 [T/C] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Nonsense_Q169X,Nonsense_Q99X exm17000 1 12785451 [A/G] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Missense_R181G,Missense_R111G exm17005 1 12785494 [T/G] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Missense_C195F,Missense_C125F indel.932 1 12785542 [I/D] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON exm17006 1 12785608 [A/T] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Missense_I233N,Missense_I163N exm17012 1 12785721 [A/G] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Missense_A271T,Missense_A201T exm17013 1 12785749 [T/C] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Missense_P280L,Missense_P210L exm17023 1 12785911 [T/C] NM_001103170,NM_001103169 AADACL3,AADACL3 EXON Missense_P334L,Missense_P264L rs4846143 1 12802955 [A/C] exm1707180 1 12806478 [T/G] NM_152290 C1orf158 EXON Nonsense_E34X rs11809649 1 12808591 [A/G] NM_152290 C1orf158 Silent exm17034 1 12815668 [A/G] NM_152290 C1orf158 EXON Missense_K44E exm17037 1 12815677 [T/C] NM_152290 C1orf158 EXON Nonsense_Q47X newrs147495703 1 12815677 [T/C] NM_152290 C1orf158 EXON Nonsense_Q47X rs10746500 1 12816316 [T/C] NM_152290 C1orf158 Silent 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 rs2359533 1 12824223 [A/G] rs1008477 1 12829219 [T/G] rs11121976 1 12833428 [T/C] exm17071 1 12835144 [T/C] NM_001080830 PRAMEF12 EXON Missense_T45I exm17074 1 12835158 [A/G] NM_001080830 PRAMEF12 EXON Missense_E50K exm17076 1 12835186 [C/G] NM_001080830 PRAMEF12 EXON Missense_W59S exm17077 1 12835240 [A/T] NM_001080830 PRAMEF12 EXON Missense_I77N variant.939 1 12835245 [T/C] NM_001080830 PRAMEF12 EXON Nonsense_R79X indel.940 1 12835693 [I/D] NM_001080830 PRAMEF12 EXON 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 exm17111 1 12836101 [A/C] NM_001080830 PRAMEF12 EXON Missense_L235I 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 exm17134 1 12837372 [T/A] NM_001080830 PRAMEF12 EXON Missense_V361E exm17152 1 12837570 [A/G] NM_001080830 PRAMEF12 EXON Missense_G427E rs848578 1 12837634 [T/A] NM_001080830 PRAMEF12 EXON Synonymous_I448I 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 rs848428 1 12866590 [T/C] rs9308457 1 12866899 [T/G] exm2268651 1 12866899 [T/G] rs864728 1 12871327 [T/G] rs4845917 1 12880153 [T/C] indel.946 1 12885336 [D/I] NM_001146344 PRAMEF11 EXON 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 rs17039265 1 12912501 [A/G] 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 exm17566 1 12920053 [A/G] NM_023014 PRAMEF2 EXON Missense_R265G exm17582 1 12921110 [A/G] NM_023014 PRAMEF2 EXON Missense_T301A exm17589 1 12921132 [A/G] NM_023014 PRAMEF2 EXON Missense_E308G 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 kgp11050191 1 13171847 [A/G] rs28488227 1 13176463 [A/G] 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 kgp3971131 1 13187294 [T/C] rs10927559 1 13775026 [T/G] rs11580598 1 13783354 [T/C] rs2999877 1 13785062 [A/G] rs2999878 1 13786622 [T/C] rs10803324 1 13787005 [T/G] rs12036704 1 13792898 [T/C] rs3013083 1 13793207 [A/G] rs3013087 1 13793635 [T/G] exm18547 1 13802325 [T/C] NM_001010847 LRRC38 EXON Missense_K292E exm18549 1 13802373 [A/G] NM_001010847 LRRC38 EXON Missense_L276F rs454765 1 13813462 [T/G] NM_001010847 LRRC38 Silent rs6680362 1 13814103 [A/G] NM_001010847 LRRC38 Silent rs3013045 1 13816121 [A/G] NM_001010847 LRRC38 Silent rs11578529 1 13822397 [A/G] NM_001010847 LRRC38 Silent rs2990678 1 13837213 [T/C] NM_001010847 LRRC38 Silent exm18560 1 13839770 [T/C] NM_001010847 LRRC38 EXON Missense_V107M exm2264988 1 13842586 [A/G] rs4345799 1 13851036 [T/G] rs2168201 1 13852683 [A/G] rs3856278 1 13859570 [A/G] rs444516 1 13870966 [T/C] rs6684199 1 13880522 [A/G] rs12042662 1 13885279 [A/G] rs355022 1 13908690 [T/C] rs12757529 1 13909211 [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 rs355028 1 13913180 [T/C] NM_006474,NM_198389,NM_001006625,NM_001006624 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs10927904 1 13914909 [T/C] NM_006474,NM_198389,NM_001006625,NM_001006624 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent exm18587 1 13933727 [A/G] NM_006474,NM_198389,NM_001006625,NM_001006624 PDPN,PDPN,PDPN,PDPN EXON Missense_M119V,Missense_M119V,Missense_M1V,Missense_M1V exm1709179 1 13936955 [T/C] NM_006474,NM_198389,NM_001006625,NM_001006624 PDPN,PDPN,PDPN,PDPN EXON Missense_A168V,Missense_A168V,Missense_A50V,Missense_A50V rs1412839 1 13938511 [A/C] NM_006474,NM_198389,NM_001006625,NM_001006624 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent rs3820304 1 13938788 [A/G] NM_006474,NM_198389,NM_001006625,NM_001006624 PDPN,PDPN,PDPN,PDPN Silent,Silent,Silent,Silent exm18606 1 13940864 [G/C] NM_006474,NM_198389,NM_001006625,NM_001006624 PDPN,PDPN,PDPN,PDPN EXON Missense_A223G,Missense_A223G,Missense_A105G,Missense_A105G variant.964 1 13940884 [T/C] NM_006474,NM_198389,NM_001006625,NM_001006624 PDPN,PDPN,PDPN,PDPN EXON Nonsense_R230X,Nonsense_R230X,Nonsense_R112X,Nonsense_R112X variant.965 1 13940906 [T/C] NM_006474,NM_198389,NM_001006625,NM_001006624 PDPN,PDPN,PDPN,PDPN EXON Missense_S237L,Silent,Silent,Missense_S119L rs876931 1 13944568 [T/C] rs6703700 1 13946586 [A/G] rs7515525 1 13952864 [T/G] rs10927926 1 13966218 [A/G] rs16852640 1 13971360 [A/G] rs4662010 1 14001018 [T/C] rs4077841 1 14020405 [T/C] rs2495060 1 14032007 [A/G] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 EXON Silent,Silent,Silent rs2487622 1 14033128 [A/G] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 Silent,Silent,Silent exm18628 1 14059374 [A/G] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 EXON Nonsense_W76X,Nonsense_W76X,Nonsense_W76X exm2231025 1 14068545 [C/G] NM_001135610,NM_012231,NM_015866 PRDM2,PRDM2,PRDM2 EXON Missense_P93A,Missense_P93A,Missense_P93A exm18641 1 14075946 [C/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Missense_A159P,Missense_A159P,Missense_A159P,Silent exm18642 1 14075947 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Missense_A159V,Missense_A159V,Missense_A159V,Silent rs2359756 1 14096420 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 Silent,Silent,Silent,Silent exm-rs1210110 1 14096821 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 Silent,Silent,Silent,Silent exm18645 1 14099574 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Synonymous_G171G,Synonymous_G171G,Silent exm18656 1 14105049 [A/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D253E,Missense_D253E,Missense_D52E exm18657 1 14105062 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A258T,Missense_A258T,Missense_A57T exm18664 1 14105139 [A/T] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D283E,Missense_D283E,Missense_D82E exm18666 1 14105142 [A/T] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D284E,Missense_D284E,Missense_D83E exm18668 1 14105222 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_R311Q,Missense_R311Q,Missense_R110Q exm18671 1 14105291 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_C334Y,Missense_C334Y,Missense_C133Y exm18684 1 14105605 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_N439D,Missense_N439D,Missense_N238D indel.970 1 14105635 [D/I] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON exm18687 1 14105639 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S450N,Missense_S450N,Missense_S249N exm18688 1 14105677 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A463T,Missense_A463T,Missense_A262T exm18692 1 14105726 [T/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_V479G,Missense_V479G,Missense_V278G exm18712 1 14106145 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_P619S,Missense_P619S,Missense_P418S 1KG_1_14106394 1 14106394 [D/I] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON exm18722 1 14106400 [C/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A704P,Missense_A704P,Missense_A503P exm18728 1 14106457 [T/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A723S,Missense_A723S,Missense_A522S exm18729 1 14106463 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_M725V,Missense_M725V,Missense_M524V exm18735 1 14106620 [C/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S777T,Missense_S777T,Missense_S576T exm18736 1 14106623 [A/T] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_H778L,Missense_H778L,Missense_H577L exm18738 1 14106705 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_M805I,Missense_M805I,Missense_M604I exm18750 1 14107112 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_T941I,Missense_T941I,Missense_T740I exm18751 1 14107135 [C/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_P949A,Missense_P949A,Missense_P748A exm18757 1 14107195 [T/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D969Y,Missense_D969Y,Missense_D768Y exm18762 1 14107267 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_V993I,Missense_V993I,Missense_V792I exm18766 1 14107360 [A/T] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S1024T,Missense_S1024T,Missense_S823T exm18773 1 14107544 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_V1085A,Missense_V1085A,Missense_V884A exm18776 1 14107568 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_A1093V,Missense_A1093V,Missense_A892V exm18780 1 14107643 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S1118F,Missense_S1118F,Missense_S917F exm18782 1 14107658 [T/A] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_D1123V,Missense_D1123V,Missense_D922V indel.971 1 14108187 [D/I] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON exm2275424 1 14108437 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_V1383M,Missense_V1383M,Missense_V1182M exm18809 1 14108496 [G/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_R1402S,Missense_R1402S,Missense_R1201S indel.972 1 14108627 [D/I] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON exm18821 1 14108749 [A/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_K1487Q,Missense_K1487Q,Missense_K1286Q exm18825 1 14108821 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S1511G,Missense_S1511G,Missense_S1310G exm18833 1 14108975 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_S1562L,Missense_S1562L,Missense_S1361L exm18838 1 14109031 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_M1581V,Missense_M1581V,Missense_M1380V exm18841 1 14109080 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_K1597R,Missense_K1597R,Missense_K1396R exm18842 1 14109084 [T/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_N1598K,Missense_N1598K,Missense_N1397K rs1203651 1 14109114 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Synonymous_S1608S,Synonymous_S1608S,Synonymous_S1407S exm18849 1 14109122 [T/A] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_L1611Q,Missense_L1611Q,Missense_L1410Q exm18850 1 14109125 [A/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_H1612P,Missense_H1612P,Missense_H1411P exm18856 1 14109197 [A/G] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_R1636Q,Missense_R1636Q,Missense_R1435Q exm18859 1 14109322 [T/C] NM_001135610,NM_012231,NM_015866,NM_001007257 PRDM2,PRDM2,PRDM2,PRDM2 EXON Silent,Missense_F1678L,Missense_F1678L,Missense_F1477L rs1203638 1 14121892 [T/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs2281170 1 14124098 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs2244634 1 14134154 [T/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent 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 rs2235514 1 14146935 [A/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent rs2697971 1 14148441 [T/G] NM_001135610,NM_012231 PRDM2,PRDM2 Silent,Silent 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 rs2697964 1 14150709 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Silent,Silent rs2903 1 14151506 [T/C] NM_001135610,NM_012231 PRDM2,PRDM2 EXON Silent,Silent rs7530376 1 14158776 [A/G] rs982510 1 14160754 [A/G] rs12049581 1 14163485 [T/G] rs1203683 1 14164286 [A/C] rs1973904 1 14170060 [A/C] rs720035 1 14190669 [A/G] rs1203660 1 14192526 [A/G] rs16853069 1 14196212 [T/C] rs9287293 1 14208571 [A/G] rs1203698 1 14209336 [A/G] rs10737914 1 14210730 [T/G] rs1528786 1 14214412 [A/G] rs2744652 1 14216203 [T/C] rs760911 1 14218438 [A/G] rs2744647 1 14220942 [A/G] rs2038095 1 14224999 [A/G] rs1203709 1 14228490 [T/G] rs6697531 1 14234944 [T/G] rs12122426 1 14240350 [A/C] rs10803436 1 14245737 [A/G] rs7542884 1 14252372 [T/G] rs10927959 1 14253821 [A/G] rs7535502 1 14255847 [A/G] rs12123612 1 14255863 [A/G] rs2206585 1 14261909 [T/G] rs2359896 1 14280562 [A/G] exm2249847 1 14281451 [T/C] rs12118400 1 14290847 [A/G] rs10927972 1 14297110 [A/G] rs12024045 1 14297220 [A/G] rs16853319 1 14301942 [T/C] rs12059926 1 14302883 [T/C] rs2359899 1 14303160 [A/G] rs4661462 1 14311056 [A/G] rs12072002 1 14315141 [A/C] rs6681501 1 14320502 [T/G] rs12129723 1 14331940 [A/G] rs12566758 1 14338807 [T/C] rs16853407 1 14341876 [T/C] rs7520101 1 14346629 [A/G] rs932407 1 14348533 [A/G] rs2206586 1 14359224 [T/C] exm-rs7414562 1 14359780 [A/G] rs7414562 1 14359780 [A/G] rs2359908 1 14364575 [T/C] rs2294811 1 14365793 [A/C] rs4662089 1 14368289 [A/G] rs12061818 1 14372058 [A/G] rs10754907 1 14372163 [T/C] rs10928004 1 14418448 [T/C] rs16853588 1 14425555 [T/C] rs7534460 1 14426751 [A/G] rs10928009 1 14433775 [T/C] rs6664213 1 14440141 [T/G] rs4662105 1 14448184 [T/C] rs4662110 1 14448571 [T/C] rs717538 1 14457230 [A/C] rs6671072 1 14463067 [A/G] rs10803459 1 14464167 [T/C] rs4661477 1 14467720 [T/C] rs12758112 1 14473926 [A/G] rs17353931 1 14476490 [A/G] rs10928043 1 14487284 [T/C] rs7546077 1 14489962 [A/G] rs9803674 1 14490497 [T/C] rs10803470 1 14492478 [T/C] rs7541978 1 14493845 [A/G] rs6692372 1 14495162 [A/G] rs12568548 1 14496787 [A/G] rs10754914 1 14507739 [A/G] rs12736419 1 14509334 [T/C] rs565765 1 14512986 [A/G] rs641343 1 14518979 [A/G] rs647287 1 14539152 [A/G] rs2027315 1 14547727 [T/C] rs10157045 1 14575084 [A/G] rs10158007 1 14575256 [T/C] exm2264989 1 14579733 [A/G] rs6668555 1 14579742 [T/C] rs12403871 1 14583472 [A/G] rs4662139 1 14586879 [A/G] rs12406699 1 14598055 [T/C] rs7555815 1 14603198 [T/C] rs1416628 1 14621842 [T/C] rs946481 1 14635852 [A/C] rs1416623 1 14649876 [T/C] rs16853960 1 14655424 [A/G] rs820626 1 14657100 [T/G] rs703801 1 14663626 [T/C] rs2789746 1 14673025 [A/G] rs7355173 1 14676909 [T/C] rs10803271 1 14700829 [T/C] rs11590846 1 14703854 [T/C] rs735832 1 14704676 [T/C] rs7527767 1 14718957 [T/C] rs12405445 1 14732019 [T/C] rs3928343 1 14740155 [T/C] rs12119451 1 14744591 [A/G] rs10754856 1 14755827 [T/C] rs2183102 1 14760634 [A/G] rs6658316 1 14775805 [T/C] rs6658744 1 14776392 [A/C] rs16850259 1 14777904 [T/G] rs6429661 1 14780811 [A/C] rs6682103 1 14782380 [T/G] rs4661496 1 14790631 [T/C] rs2486774 1 14800247 [T/C] exm-rs7555566 1 14804874 [A/G] rs2486764 1 14806750 [T/C] rs2486762 1 14807686 [T/C] rs2480061 1 14808756 [T/G] rs12129734 1 14819757 [A/G] rs12031064 1 14823637 [A/G] rs12733612 1 14826029 [A/G] rs10803285 1 14830984 [A/C] rs10733135 1 14831066 [A/G] rs11807837 1 14841189 [A/C] rs12138326 1 14845459 [A/G] rs3892594 1 14849088 [T/C] rs2105239 1 14857643 [A/G] rs1890784 1 14863561 [A/C] rs10927460 1 14870568 [A/G] rs4385705 1 14876032 [A/G] rs17403250 1 14883844 [A/G] rs10927468 1 14901191 [A/G] rs6685406 1 14910920 [A/G] rs4661292 1 14915147 [A/G] rs10803289 1 14934220 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs11579756 1 14947920 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6699411 1 14978291 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs761191 1 14981920 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs1028389 1 14994487 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6701296 1 14998872 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2871581 1 15009937 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs7534010 1 15032340 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4661514 1 15033508 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs7516095 1 15039411 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2050126 1 15056175 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs1997762 1 15067407 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6660333 1 15068997 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6429674 1 15072614 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6661767 1 15077567 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4357518 1 15080560 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4543785 1 15089767 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs732469 1 15093562 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs804125 1 15111927 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs1721829 1 15117060 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2744867 1 15118652 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs1737349 1 15124318 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs804130 1 15125699 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12568933 1 15127627 [T/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs6671788 1 15130227 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs3845590 1 15138738 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs10489354 1 15144305 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs11585327 1 15167003 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2103116 1 15185229 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs3845596 1 15189299 [A/G] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2803399 1 15192559 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12564579 1 15197814 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs4661540 1 15202204 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2690024 1 15211824 [A/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs2489772 1 15244761 [T/C] NM_015209,NM_201628 KAZN,KAZN Silent,Silent rs12568821 1 15257426 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent rs10927583 1 15258425 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent rs6693394 1 15265404 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001 KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent rs7514440 1 15283217 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs11485048 1 15285044 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent exm2264990 1 15286096 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs6429696 1 15286805 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent exm18885 1 15287201 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_S83L,Missense_S83L,Missense_S77L,Silent,Silent rs1398823 1 15289376 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs10754875 1 15294031 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs12084008 1 15303970 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs7522712 1 15307478 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs12409399 1 15317488 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs4661310 1 15320449 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs1316257 1 15323416 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs7529561 1 15328151 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs16851112 1 15328697 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs10927627 1 15331802 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs6429703 1 15339960 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs10927631 1 15346330 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs6667220 1 15347640 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs6684496 1 15352820 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs4520412 1 15359967 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs6674129 1 15363223 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs12139386 1 15365648 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs10927653 1 15368553 [A/G] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent exm1715736 1 15370498 [T/C] NM_015209,NM_201628,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_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_T220M,Missense_T220M,Missense_T214M,Missense_T126M,Missense_T126M rs761288 1 15377687 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent exm18940 1 15382587 [A/G] NM_015209,NM_201628,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_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Missense_R304Q,Missense_R304Q,Missense_R298Q,Missense_R210Q,Missense_R210Q rs2076566 1 15389862 [A/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN Silent,Silent,Silent,Silent,Silent rs12057431 1 15392450 [T/C] NM_015209,NM_201628,NM_001018000,NM_001018001,NM_001017999 KAZN,KAZN,KAZN,KAZN,KAZN EXON Silent,Silent,Silent,Silent,Silent rs9943244 1 15395881 [A/C] NM_201628 KAZN Silent rs16851241 1 15401158 [A/C] NM_201628 KAZN Silent rs4661572 1 15402156 [A/G] NM_201628 KAZN Silent rs2175774 1 15406696 [A/G] NM_201628 KAZN Silent rs6669698 1 15411661 [A/G] NM_201628 KAZN Silent rs10927670 1 15412415 [T/G] NM_201628 KAZN Silent rs4661575 1 15414413 [T/C] NM_201628 KAZN Silent 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 rs494983 1 15431657 [T/G] NM_201628 KAZN Silent rs496567 1 15435257 [A/G] NM_201628 KAZN Silent 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 rs2235789 1 15442058 [T/C] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Silent,Silent rs2235784 1 15444288 [T/C] NM_201628,NR_027136 KAZN,TMEM51-AS1 EXON Silent,Silent rs13375820 1 15446168 [A/G] NR_027136 TMEM51-AS1 Silent rs2206761 1 15466832 [T/C] NR_027136 TMEM51-AS1 Silent rs6429711 1 15467263 [T/C] NR_027136 TMEM51-AS1 Silent rs761301 1 15471992 [T/G] NR_027136 TMEM51-AS1 Silent rs1883761 1 15477865 [A/G] NR_027136 TMEM51-AS1 Silent rs4661582 1 15482932 [T/C] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent rs10489452 1 15489884 [T/C] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent rs7540957 1 15492032 [A/G] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent rs16851354 1 15495620 [T/C] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent rs4436387 1 15498452 [T/C] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent rs16851358 1 15500332 [T/C] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent rs10927698 1 15504403 [T/G] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent rs12145963 1 15507197 [T/C] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent rs4661594 1 15507952 [T/G] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent rs11588628 1 15512222 [T/C] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent rs10927709 1 15516299 [T/C] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent rs16851387 1 15518792 [A/G] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent rs742671 1 15519417 [T/C] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent rs12028875 1 15530336 [T/C] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent rs12070469 1 15537122 [T/C] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent rs1316533 1 15539483 [A/G] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent rs6429728 1 15540685 [A/G] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent exm19048 1 15541621 [T/C] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_A13V,Missense_A13V,Missense_A13V,Missense_A13V exm19052 1 15541704 [A/G] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_E41K,Missense_E41K,Missense_E41K,Missense_E41K rs12057512 1 15544366 [A/C] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 Silent,Silent,Silent,Silent exm19065 1 15545979 [A/G] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_D168N,Missense_D168N,Missense_D168N,Missense_D168N exm19066 1 15545997 [T/G] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_S174A,Missense_S174A,Missense_S174A,Missense_S174A exm19068 1 15546012 [A/G] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_V179M,Missense_V179M,Missense_V179M,Missense_V179M indel.979 1 15546052 [I/D] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON exm19077 1 15546150 [A/G] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_V225I,Missense_V225I,Missense_V225I,Missense_V225I exm19080 1 15546219 [A/G] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_D248N,Missense_D248N,Missense_D248N,Missense_D248N exm19084 1 15546234 [A/G] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Missense_D253N,Missense_D253N,Missense_D253N,Missense_D253N exm2249987 1 15546761 [A/G] NM_001136216,NM_001136217,NM_018022,NM_001136218 TMEM51,TMEM51,TMEM51,TMEM51 EXON Silent,Silent,Silent,Silent rs10803369 1 15550525 [A/C] rs6429732 1 15558938 [T/C] rs12034146 1 15561181 [T/C] rs4644485 1 15566803 [T/C] exm19088 1 15578302 [A/G] NM_052929 FHAD1 EXON Missense_A8T rs16851480 1 15583819 [T/C] NM_052929 FHAD1 Silent rs7520597 1 15585613 [T/G] NM_052929 FHAD1 Silent rs6676098 1 15588759 [T/C] NM_052929 FHAD1 Silent rs10927753 1 15591929 [T/C] NM_052929 FHAD1 Silent rs4661617 1 15593666 [T/C] NM_052929 FHAD1 Silent exm19091 1 15599025 [A/G] NM_052929 FHAD1 EXON Synonymous_P100P rs10927758 1 15600085 [A/G] NM_052929 FHAD1 Silent rs10927764 1 15606453 [T/C] NM_052929 FHAD1 Silent rs572953 1 15609117 [T/G] NM_052929 FHAD1 Silent rs10927765 1 15610004 [T/C] NM_052929 FHAD1 Silent 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 variant.981 1 15639551 [A/G] NM_052929 FHAD1 Silent exm19119 1 15639581 [A/G] NM_052929 FHAD1 EXON Missense_I356M newrs138323342 1 15642963 [T/C] NM_052929 FHAD1 EXON Synonymous_T420T exm19124 1 15642964 [A/G] NM_052929 FHAD1 Silent rs477590 1 15643218 [A/G] NM_052929 FHAD1 Silent rs7554324 1 15644729 [A/C] NM_052929 FHAD1 Silent rs3765356 1 15651062 [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 rs2473358 1 15680451 [T/G] NM_052929 FHAD1 Silent exm19162 1 15684661 [G/C] NM_052929 FHAD1 EXON Missense_A851G exm19172 1 15687059 [A/G] NM_052929 FHAD1 EXON Missense_E919G rs542008 1 15687814 [A/G] NM_052929 FHAD1 Silent exm19179 1 15689182 [A/T] NM_052929 FHAD1 EXON Missense_T981S exm19184 1 15694072 [A/G] NM_052929 FHAD1 EXON Missense_V1068I rs876295 1 15697183 [A/G] NM_052929 FHAD1 Silent variant.986 1 15701094 [T/C] NM_052929 FHAD1 EXON Nonsense_R1160X exm19195 1 15701116 [T/C] NM_052929 FHAD1 EXON Missense_A1167V rs742365 1 15705031 [A/G] NM_052929 FHAD1 Silent exm19206 1 15707775 [A/G] NM_052929 FHAD1 EXON Missense_M1262V exm19207 1 15707853 [A/G] NM_052929 FHAD1 EXON Missense_D1288N rs1010294 1 15708540 [A/G] NM_052929 FHAD1 EXON Missense_I1325V exm19210 1 15708540 [A/G] NM_052929 FHAD1 EXON Missense_I1325V rs742361 1 15726566 [A/G] rs733887 1 15732793 [A/G] rs2092324 1 15733394 [A/G] rs7525279 1 15745380 [T/C] NM_024329 EFHD2 Silent exm19232 1 15753662 [A/G] NM_024329 EFHD2 EXON Missense_R158H rs6693417 1 15763340 [A/G] exm19258 1 15766865 [A/G] NM_007272 CTRC EXON Missense_R37Q exm19262 1 15767020 [A/G] NM_007272 CTRC EXON Nonsense_W55X rs10436957 1 15768304 [A/G] NM_007272 CTRC Silent 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 rs7547591 1 15788789 [A/G] NM_033440 CELA2A Silent exm19338 1 15789260 [A/G] NM_033440 CELA2A EXON Missense_R87Q exm1720476 1 15789274 [A/G] NM_033440 CELA2A EXON Missense_V92I indel.1004 1 15789294 [I/D] NM_033440 CELA2A EXON exm19345 1 15789304 [T/G] NM_033440 CELA2A EXON Missense_V102F variant.1005 1 15789361 [A/G] NM_033440 CELA2A Silent 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 rs7556116 1 15796714 [A/G] NM_033440 CELA2A Silent rs10927791 1 15796808 [T/C] NM_033440 CELA2A Silent rs3820071 1 15808767 [A/G] NM_015849 CELA2B EXON Missense_G79R exm19422 1 15808767 [A/G] NM_015849 CELA2B EXON Missense_G79R exm19431 1 15808872 [A/G] NM_015849 CELA2B EXON Missense_D114N rs12130370 1 15810624 [T/C] NM_015849 CELA2B Silent 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 rs4646092 1 15821673 [T/C] NM_001229,NM_032996 CASP9,CASP9 Silent,Silent rs6685648 1 15825195 [T/C] NM_001229,NM_032996 CASP9,CASP9 Silent,Silent 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 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 newrs138664729 1 15844605 [T/C] NM_001229,NM_032996 CASP9,CASP9 EXON Missense_G140S,Missense_G57S exm19530 1 15844606 [A/G] NM_001229,NM_032996 CASP9,CASP9 EXON Synonymous_V139V,Synonymous_V56V indel.1014 1 15844626 [I/D] NM_001229,NM_032996 CASP9,CASP9 EXON 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 rs10927796 1 15857134 [A/G] NM_015291 DNAJC16 Silent newrs11583306 1 15860803 [T/C] NM_015291 DNAJC16 Silent variant.1017 1 15863057 [T/C] NM_015291 DNAJC16 EXON Nonsense_R108X exm19603 1 15871023 [A/G] NM_015291 DNAJC16 EXON Missense_R235H variant.1019 1 15886024 [T/C] NM_015291 DNAJC16 EXON Nonsense_R343X exm19623 1 15886040 [A/G] NM_015291 DNAJC16 EXON Missense_Q348R newrs148404423 1 15886141 [T/C] NM_015291 DNAJC16 EXON Nonsense_R382X exm19629 1 15888644 [A/G] NM_015291 DNAJC16 EXON Missense_V388M variant.1021 1 15888820 [A/G] NM_015291 DNAJC16 EXON Synonymous_A446A 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 indel.1022 1 15894671 [I/D] NM_015291 DNAJC16 EXON indel.1023 1 15900213 [I/D] NM_024758 AGMAT EXON exm19685 1 15900221 [T/A] NM_024758 AGMAT Silent indel.1024 1 15900221 [I/D] NM_024758 AGMAT exm2250042 1 15904318 [T/C] NM_024758 AGMAT EXON Synonymous_S254S exm19696 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 newrs142035319 1 15906588 [T/C] NM_024758 AGMAT Silent indel.1028 1 15909687 [D/I] NM_024758 AGMAT exm19722 1 15909744 [T/C] NM_024758 AGMAT EXON Missense_R140Q exm19728 1 15909850 [G/C] NM_024758 AGMAT EXON Missense_G105R indel.1029 1 15909882 [D/I] NM_024758 AGMAT EXON rs6429759 1 15910003 [T/C] NM_024758 AGMAT Silent exm19733 1 15911206 [T/C] NM_024758 AGMAT EXON Missense_N86S rs16851855 1 15930869 [A/G] rs6697813 1 15951743 [T/G] NM_032341 DDI2 Silent exm19752 1 15953261 [A/G] NM_032341 DDI2 EXON Missense_N79S exm19760 1 15956880 [A/G] NM_032341 DDI2 EXON Missense_R110H variant.1030 1 15964934 [T/C] NM_032341 DDI2 Silent rs1980607 1 15975237 [A/G] NM_032341 DDI2 Silent 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 newrs138928687 1 15986922 [T/C] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Nonsense_Q187X 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 indel.1032 1 15987157 [D/I] NM_032341,NM_006511 DDI2,RSC1A1 EXON 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 variant.1034 1 15987390 [T/G] NM_032341,NM_006511 DDI2,RSC1A1 EXON Silent,Nonsense_E343X 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 newrs137912259 1 15987735 [T/G] NM_006511 RSC1A1 EXON Nonsense_E458X indel.1038 1 15987798 [I/D] NM_006511 RSC1A1 EXON indel.1039 1 15987835 [I/D] NM_006511 RSC1A1 EXON exm19848 1 15987888 [A/G] NM_006511 RSC1A1 EXON Missense_E509K indel.1040 1 15987960 [D/I] NM_006511 RSC1A1 EXON exm19851 1 15987963 [C/G] NM_006511 RSC1A1 EXON Missense_D534H exm19853 1 15988041 [T/C] NM_006511 RSC1A1 EXON Missense_P560S indel.1043 1 15988100 [I/D] NM_006511 RSC1A1 EXON rs10492987 1 15993338 [A/G] rs12746773 1 16001588 [T/C] rs7546138 1 16015784 [A/G] NM_015164 PLEKHM2 Silent exm19870 1 16042766 [T/C] NM_015164 PLEKHM2 EXON Missense_I32T rs16851970 1 16044401 [A/G] NM_015164 PLEKHM2 EXON Synonymous_L97L 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 variant.1044 1 16054617 [T/C] NM_015164 PLEKHM2 EXON Nonsense_R602X exm19960 1 16054813 [A/G] NM_015164 PLEKHM2 EXON Missense_V628M variant.1045 1 16055228 [A/G] NM_015164 PLEKHM2 EXON Synonymous_S662S rs7539884 1 16055931 [T/C] NM_015164 PLEKHM2 Silent 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 rs7516080 1 16067904 [T/C] rs35365738 1 16068364 [A/G] 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 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 rs12725198 1 16080171 [A/G] rs867321 1 16087164 [T/C] NM_017556 FBLIM1 Silent rs938295 1 16087260 [T/C] NM_017556 FBLIM1 Silent rs12083988 1 16089356 [A/G] NM_017556 FBLIM1 Silent 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 rs10803398 1 16097237 [A/G] NM_017556,NM_001024215,NM_001024216 FBLIM1,FBLIM1,FBLIM1 Silent,Silent,Silent 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 rs11576404 1 16110815 [A/G] NM_017556,NM_001024216 FBLIM1,FBLIM1 Silent,Silent rs12026094 1 16122018 [T/C] rs12569079 1 16124438 [A/G] rs2013019 1 16129320 [T/C] exm20280 1 16134072 [T/C] NM_001089591 UQCRHL EXON Missense_E25K rs6677321 1 16149301 [A/C] rs4661661 1 16161836 [T/C] NR_024279 FLJ37453 EXON Silent rs6701290 1 16188681 [A/G] NM_015001 SPEN Silent 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 indel.1065 1 16200633 [D/I] NM_015001 SPEN rs16852052 1 16201502 [T/G] NM_015001 SPEN Silent 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 variant.1066 1 16248849 [A/G] NM_015001 SPEN Silent 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 1KG_1_16259647 1 16259647 [D/I] NM_015001 SPEN EXON 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 rs848189 1 16277647 [T/C] NM_001242884,NM_003443 ZBTB17,ZBTB17 Silent,Silent exm-rs10927875 1 16299312 [T/C] NM_001242884,NM_003443 ZBTB17,ZBTB17 Silent,Silent rs10927875 1 16299312 [T/C] NM_001242884,NM_003443 ZBTB17,ZBTB17 Silent,Silent rs1739828 1 16327422 [T/C] 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 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 rs11578845 1 16336654 [A/G] rs1048245 1 16341354 [T/G] NM_014424 HSPB7 EXON Silent 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 rs3754322 1 16346507 [A/C] rs945425 1 16348412 [T/C] exm20944 1 16349137 [A/G] NM_001257139,NM_004070,NM_001042704 CLCNKA,CLCNKA,CLCNKA EXON Missense_R8H,Missense_R8H,Missense_R8H exm20955 1 16350315 [A/C] NM_001257139,NM_004070,NM_001042704 CLCNKA,CLCNKA,CLCNKA EXON Missense_Q41K,Missense_Q41K,Missense_Q41K exm20956 1 16350328 [A/G] NM_001257139,NM_004070,NM_001042704 CLCNKA,CLCNKA,CLCNKA EXON Missense_R45H,Missense_R45H,Missense_R45H rs1010069 1 16352937 [A/G] NM_001257139,NM_004070,NM_001042704 CLCNKA,CLCNKA,CLCNKA Silent,Silent,Silent exm2250114 1 16353926 [A/G] NM_001257139,NM_004070,NM_001042704 CLCNKA,CLCNKA,CLCNKA EXON Synonymous_E216E,Synonymous_E259E,Synonymous_E259E exm20993 1 16354581 [T/C] NM_001257139,NM_004070,NM_001042704 CLCNKA,CLCNKA,CLCNKA EXON Missense_T269I,Missense_T312I,Missense_T312I exm2250115 1 16355310 [A/G] NM_001257139,NM_004070,NM_001042704 CLCNKA,CLCNKA,CLCNKA EXON Synonymous_P298P,Synonymous_P341P,Synonymous_P341P exm21029 1 16356501 [A/G] NM_001257139,NM_004070,NM_001042704 CLCNKA,CLCNKA,CLCNKA EXON Missense_A404T,Missense_A447T,Missense_A447T exm21030 1 16356522 [A/G] NM_001257139,NM_004070,NM_001042704 CLCNKA,CLCNKA,CLCNKA EXON Missense_T411A,Missense_T454A,Missense_T454A exm21081 1 16359717 [A/G] NM_001257139,NM_004070,NM_001042704 CLCNKA,CLCNKA,CLCNKA EXON Missense_R618Q,Missense_R661Q,Missense_R660Q rs9442193 1 16367339 [A/G] rs10803410 1 16368324 [A/G] 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 rs5257 1 16373124 [A/G] NM_000085 CLCNKB EXON Synonymous_S108S 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 variant.1094 1 16376353 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Nonsense_R304X,Nonsense_R135X var_1_16376412 1 16376412 [A/G] NM_000085,NM_001165945 CLCNKB,CLCNKB Silent,Silent exm21163 1 16377042 [G/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Missense_V334L,Missense_V165L rs5252 1 16378215 [T/C] NM_000085,NM_001165945 CLCNKB,CLCNKB EXON Synonymous_I436I,Synonymous_I267I 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 rs9442235 1 16393357 [T/G] NM_182623 FAM131C Silent rs10927902 1 16395147 [A/G] NM_182623 FAM131C Silent rs4661351 1 16414088 [A/G] rs28757713 1 16422010 [A/G] exm21342 1 16451722 [T/C] NM_004431 EPHA2 EXON Synonymous_G973G exm2250132 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 rs3820610 1 16452998 [T/C] NM_004431 EPHA2 Silent 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 variant.1119 1 16464914 [A/C] NM_004431 EPHA2 EXON Nonsense_G279X exm21472 1 16464919 [A/G] NM_004431 EPHA2 EXON Missense_S277L rs6603867 1 16474701 [A/G] NM_004431 EPHA2 Silent 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 newrs143590250 1 16475434 [A/G] NM_004431 EPHA2 EXON Nonsense_R88X exm21514 1 16477423 [C/G] NM_004431 EPHA2 EXON Missense_L41V rs16852532 1 16484982 [T/G] rs904106 1 16486793 [A/G] rs924206 1 16495998 [A/G] rs1497406 1 16505320 [A/G] rs4661359 1 16513153 [T/C] rs11260930 1 16514343 [A/G] rs6656611 1 16515805 [T/C] rs221031 1 16524869 [T/C] NM_153213 ARHGEF19 EXON Silent exm21527 1 16525657 [A/G] NM_153213 ARHGEF19 EXON Missense_W747R rs221035 1 16526529 [A/G] NM_153213 ARHGEF19 Silent indel.1127 1 16528342 [D/I] NM_153213 ARHGEF19 EXON 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 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 variant.1143 1 16560174 [T/C] NM_030907 RSG1 EXON Synonymous_V66V exm21682 1 16560248 [A/G] NM_030907 RSG1 EXON Missense_R42W rs2863845 1 16561179 [T/C] NM_030907 RSG1 Silent exm21687 1 16563190 [T/G] NM_030907 RSG1 EXON Missense_H16Q rs3738632 1 16574316 [T/C] 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 rs1008529 1 16582686 [A/G] NM_018994 FBXO42 Silent rs6698317 1 16591072 [A/G] NM_018994 FBXO42 Silent rs2983160 1 16621432 [A/G] NM_018994 FBXO42 Silent variant.1145 1 16632373 [A/G] NM_018994 FBXO42 EXON Nonsense_Q98X rs2273311 1 16641899 [T/C] NM_018994 FBXO42 EXON Synonymous_S5S rs11804252 1 16642849 [T/C] NM_018994 FBXO42 Silent rs4661736 1 16645277 [T/C] NM_018994 FBXO42 Silent rs11260727 1 16653299 [T/C] NM_018994 FBXO42 Silent 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 rs907796 1 16732860 [A/G] NM_198546 SPATA21 Silent 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 rs4661747 1 16739953 [A/G] NM_198546 SPATA21 Silent exm21891 1 16767269 [G/C] NM_001145277,NM_001145278,NM_018090 NECAP2,NECAP2,NECAP2 EXON Missense_G5R,Missense_G5R,Missense_G5R exm21897 1 16770143 [G/C] NM_001145277,NM_001145278,NM_018090 NECAP2,NECAP2,NECAP2 EXON Missense_L37V,Missense_L11V,Missense_L37V rs821000 1 16773880 [A/G] NM_001145277,NM_001145278,NM_018090 NECAP2,NECAP2,NECAP2 Silent,Silent,Silent exm21901 1 16774403 [A/G] NM_001145277,NM_001145278,NM_018090 NECAP2,NECAP2,NECAP2 EXON Missense_G78S,Missense_G52S,Missense_G78S exm21903 1 16774425 [T/C] NM_001145277,NM_001145278,NM_018090 NECAP2,NECAP2,NECAP2 EXON Missense_T85M,Missense_T59M,Missense_T85M variant.1158 1 16774590 [T/C] NM_001145277,NM_001145278,NM_018090 NECAP2,NECAP2,NECAP2 EXON Nonsense_R112X,Nonsense_R86X,Nonsense_R112X exm21911 1 16775632 [G/C] NM_001145277,NM_001145278,NM_018090 NECAP2,NECAP2,NECAP2 EXON Missense_P142R,Missense_P116R,Missense_P142R rs279779 1 16776804 [T/C] NM_001145277,NM_001145278,NM_018090 NECAP2,NECAP2,NECAP2 Silent,Silent,Silent variant.1159 1 16778369 [T/C] NM_001145277,NM_001145278,NM_018090 NECAP2,NECAP2,NECAP2 EXON Nonsense_R176X,Nonsense_R150X,Nonsense_R176X exm21918 1 16778370 [A/G] NM_001145277,NM_001145278,NM_018090 NECAP2,NECAP2,NECAP2 EXON Missense_R176Q,Missense_R150Q,Missense_R176Q exm21919 1 16778393 [A/G] NM_001145277,NM_001145278,NM_018090 NECAP2,NECAP2,NECAP2 EXON Missense_G184R,Missense_G158R,Missense_G184R exm21928 1 16782322 [T/C] NM_001145277,NM_001145278,NM_018090 NECAP2,NECAP2,NECAP2 EXON Silent,Missense_P200L,Missense_P226L exm21936 1 16785394 [T/C] NM_001145277,NM_001145278,NM_018090 NECAP2,NECAP2,NECAP2 EXON Missense_T242M,Silent,Silent rs7537985 1 16831863 [T/C] rs277462 1 16847832 [T/C] exm21949 1 16890470 [A/C] NM_017940 NBPF1 EXON Missense_W1131C exm21951 1 16890475 [T/C] NM_017940 NBPF1 EXON Missense_T1130A rs2985125 1 17004186 [A/G] rs1977269 1 17004850 [A/C] kgp11244105 1 17006479 [A/C] kgp6780284 1 17112979 [T/C] rs6586501 1 17202355 [A/G] 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 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 rs761422 1 17301780 [A/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Synonymous_H144H,Synonymous_H144H,Synonymous_H143H,Synonymous_H143H exm22814 1 17301821 [T/C] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_V131I,Missense_V131I,Missense_V130I,Missense_V130I exm22816 1 17301832 [T/C] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_R127H,Missense_R127H,Missense_R126H,Missense_R126H variant.1182 1 17303387 [A/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 Silent,Silent,Silent,Silent exm22832 1 17303609 [T/C] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_Q41R,Missense_Q41R,Missense_Q40R,Missense_Q40R exm22833 1 17303630 [T/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_Q34P,Missense_Q34P,Missense_Q33P,Missense_Q33P exm2273620 1 17303651 [A/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_P27L,Missense_P27L,Missense_P26L,Missense_P26L exm22835 1 17303652 [A/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 EXON Missense_P27S,Missense_P27S,Missense_P26S,Missense_P26S rs9435730 1 17305903 [A/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 Silent,Silent,Silent,Silent exm-rs2284746 1 17306675 [C/G] NM_002403,NM_017459,NM_001135247,NM_001135248 MFAP2,MFAP2,MFAP2,MFAP2 Silent,Silent,Silent,Silent rs9435734 1 17311190 [A/G] exm22841 1 17312485 [T/C] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_V1158M,Silent,Silent exm22845 1 17312586 [A/G] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_P1124L,Silent,Silent exm22847 1 17312596 [T/A] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_T1121S,Silent,Silent exm22854 1 17312743 [T/C] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A1072T,Synonymous_P1172P,Synonymous_P1167P exm22856 1 17312787 [A/G] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A1057V,Missense_R1158C,Missense_R1153C exm22858 1 17312829 [T/C] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R1043H,Missense_A1144T,Missense_A1139T exm22865 1 17313049 [A/G] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Silent,Missense_P1105L,Missense_P1100L exm22892 1 17313682 [A/G] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_T937M,Missense_T981M,Missense_T976M exm22897 1 17314633 [T/C] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Synonymous_T909T,Synonymous_T953T,Synonymous_T948T exm22899 1 17314656 [A/T] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_I902F,Missense_I946F,Missense_I941F exm2231851 1 17314856 [A/G] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_S864L,Missense_S908L,Missense_S903L exm22926 1 17316686 [T/C] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R778Q,Missense_R783Q,Missense_R778Q exm22932 1 17316771 [C/G] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_Q750E,Missense_Q755E,Missense_Q750E rs2076604 1 17318065 [T/C] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent exm22935 1 17318244 [T/C] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A741T,Missense_A746T,Missense_A741T exm1736074 1 17318282 [A/G] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_T728M,Missense_T733M,Missense_T728M exm22943 1 17318537 [A/G] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_V693A,Missense_V698A,Missense_V693A exm22947 1 17318610 [T/C] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A669T,Missense_A674T,Missense_A669T exm22959 1 17320122 [A/C] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent exm2231855 1 17322553 [T/C] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R482Q,Missense_R487Q,Missense_R482Q exm22983 1 17322750 [T/C] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R446Q,Missense_R451Q,Missense_R446Q exm22987 1 17322793 [G/C] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_L432V,Missense_L437V,Missense_L432V exm23009 1 17323602 [A/G] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R365W,Missense_R370W,Missense_R365W exm23022 1 17326767 [T/C] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R289Q,Missense_R294Q,Missense_R289Q exm23023 1 17326768 [A/G] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_R289W,Missense_R294W,Missense_R289W exm23031 1 17326989 [A/G] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_A244V,Missense_A249V,Missense_A244V exm23046 1 17331192 [T/C] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Silent,Missense_G158R,Silent exm2250261 1 17331229 [T/C] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Synonymous_T145T,Synonymous_T145T,Synonymous_T145T exm-rs3738814 1 17331676 [A/G] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent exm23066 1 17332000 [T/C] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_V53M,Missense_V53M,Missense_V53M exm23067 1 17332012 [T/C] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_G49S,Missense_G49S,Missense_G49S exm23076 1 17332249 [A/G] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 EXON Missense_T12M,Missense_T12M,Missense_T12M rs2076600 1 17337391 [A/G] NM_001141974,NM_022089,NM_001141973 ATP13A2,ATP13A2,ATP13A2 Silent,Silent,Silent rs2871775 1 17345905 [A/G] NM_003000 SDHB Silent 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 newrs150542357 1 17355095 [A/G] NM_003000 SDHB EXON Synonymous_P141P rs7550829 1 17357577 [T/C] NM_003000 SDHB Silent variant.1199 1 17359572 [T/C] NM_003000 SDHB EXON Missense_R90Q rs4920653 1 17366871 [T/C] NM_003000 SDHB Silent variant.1200 1 17371249 [T/C] NM_003000 SDHB Silent 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 rs2647209 1 17382562 [T/C] rs4920442 1 17388770 [T/C] exm2273318 1 17395480 [A/G] NM_007365 PADI2 EXON Silent rs2076598 1 17395521 [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 rs2016693 1 17397704 [A/C] NM_007365 PADI2 Silent exm23164 1 17402215 [T/C] NM_007365 PADI2 EXON Missense_V472M exm23169 1 17402307 [T/C] NM_007365 PADI2 EXON Missense_R441Q rs2057096 1 17405809 [A/G] NM_007365 PADI2 EXON Synonymous_N420N exm23175 1 17405814 [T/C] NM_007365 PADI2 EXON Missense_V419M rs2057094 1 17405949 [T/C] NM_007365 PADI2 Silent rs2076617 1 17409017 [A/G] NM_007365 PADI2 Silent 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 rs2076614 1 17413459 [A/G] NM_007365 PADI2 Silent rs2014725 1 17417253 [T/C] NM_007365 PADI2 Silent 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 rs1005753 1 17444769 [T/G] NM_007365 PADI2 Silent rs910223 1 17459855 [T/C] rs877648 1 17462261 [A/G] rs12408879 1 17468135 [T/G] rs12085482 1 17476831 [A/G] rs4620585 1 17486722 [T/C] rs2454163 1 17487951 [T/C] rs2977265 1 17503210 [A/G] rs2935923 1 17510703 [A/G] rs3003469 1 17521274 [A/G] 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 rs4384275 1 17534310 [T/C] NM_013358 PADI1 Silent rs2977278 1 17538952 [T/C] NM_013358 PADI1 Silent rs2977283 1 17541949 [A/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 variant.1222 1 17552653 [A/G] NM_013358 PADI1 EXON Missense_G218S rs12024174 1 17553091 [T/C] NM_013358 PADI1 Silent 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 indel.1226 1 17556659 [D/I] NM_013358 PADI1 EXON rs3003406 1 17557133 [A/C] NM_013358 PADI1 EXON Synonymous_R374R rs4268393 1 17559196 [T/C] NM_013358 PADI1 Silent exm23364 1 17559399 [T/C] NM_013358 PADI1 EXON Missense_P416L exm1737488 1 17559438 [A/G] NM_013358 PADI1 EXON Missense_R429Q rs11203339 1 17560972 [T/C] NM_013358 PADI1 Silent 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 rs2977225 1 17573439 [T/C] exm23418 1 17575699 [A/G] NM_016233 PADI3 EXON Missense_V23M rs2977227 1 17576328 [T/C] NM_016233 PADI3 Silent rs2977228 1 17576499 [T/C] NM_016233 PADI3 Silent exm23424 1 17586122 [A/G] NM_016233 PADI3 EXON Missense_V48M rs3750300 1 17586134 [A/G] NM_016233 PADI3 EXON Missense_I52V 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 rs2293917 1 17601083 [T/C] NM_016233 PADI3 Silent exm23503 1 17601154 [T/C] NM_016233 PADI3 EXON Missense_R394W exm23506 1 17601163 [T/C] NM_016233 PADI3 EXON Missense_R397C rs11585357 1 17601165 [T/C] NM_016233 PADI3 EXON Synonymous_R397R exm23511 1 17601263 [T/C] NM_016233 PADI3 EXON Missense_I430T exm23512 1 17601266 [A/G] NM_016233 PADI3 EXON Missense_G431E rs3003434 1 17602191 [A/G] NM_016233 PADI3 Silent exm23518 1 17603075 [T/C] NM_016233 PADI3 EXON Missense_P457S indel.1242 1 17606923 [D/I] NM_016233 PADI3 EXON newrs148561129 1 17606926 [T/C] NM_016233 PADI3 Silent var_1_17606929 1 17606929 [A/G] NM_016233 PADI3 Silent 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 newrs139540548 1 17607292 [A/G] NM_016233 PADI3 Silent 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 rs7548900 1 17622654 [A/C] rs2477142 1 17629004 [T/C] exm23564 1 17634718 [A/G] NM_012387 PADI4 EXON Missense_M1V exm23565 1 17634740 [A/G] NM_012387 PADI4 EXON Missense_R8H rs2477131 1 17636321 [A/G] NM_012387 PADI4 Silent rs1748041 1 17655407 [T/C] NM_012387 PADI4 Silent 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 rs1748033 1 17662662 [T/C] NM_012387 PADI4 EXON Synonymous_L117L 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 exm23613 1 17664622 [T/C] NM_012387 PADI4 EXON Synonymous_C166C exm2250297 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 rs2240339 1 17674108 [T/C] NM_012387 PADI4 Silent 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 rs1635564 1 17683526 [T/G] NM_012387 PADI4 Silent indel.1256 1 17685328 [D/I] NM_012387 PADI4 exm23694 1 17685905 [T/C] NM_012387 PADI4 Silent rs1635561 1 17687027 [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 rs1204890 1 17694701 [T/G] rs12732819 1 17695153 [T/C] 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 rs6696295 1 17714864 [T/C] 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 rs2526842 1 17715081 [T/C] NM_207421 PADI6 Silent rs6695214 1 17719843 [T/C] NM_207421 PADI6 Silent 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 rs7538876 1 17722363 [A/G] NM_207421 PADI6 Silent 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 rs2526830 1 17728119 [A/G] NM_207421 PADI6 EXON Silent exm23845 1 17748785 [T/C] NM_018715,NM_001136204 RCC2,RCC2 EXON Missense_T220A,Missense_T220A rs6688886 1 17753639 [A/G] NM_018715,NM_001136204 RCC2,RCC2 Silent,Silent rs2800686 1 17763312 [A/G] NM_018715,NM_001136204 RCC2,RCC2 Silent,Silent exm23860 1 17764763 [A/G] NM_018715,NM_001136204 RCC2,RCC2 EXON Missense_V83A,Missense_V83A rs2883272 1 17773159 [A/G] rs2526822 1 17778571 [T/G] rs12078935 1 17791882 [T/C] rs4920609 1 17794205 [A/C] rs4284283 1 17796711 [A/G] rs6659366 1 17800419 [A/G] rs6689677 1 17820742 [A/C] rs11203414 1 17829956 [T/C] rs2254135 1 17834742 [T/C] rs2244444 1 17846922 [T/C] rs4920374 1 17872028 [A/G] NM_018125 ARHGEF10L Silent exm2268868 1 17874843 [T/C] NM_018125 ARHGEF10L Silent rs12049589 1 17899151 [T/C] NM_018125 ARHGEF10L Silent rs11203423 1 17907505 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L Silent,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 rs12404333 1 17915833 [T/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L Silent,Silent rs4920379 1 17916382 [T/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L Silent,Silent rs10788679 1 17916962 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L Silent,Silent 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 variant.1269 1 17949670 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Synonymous_S400S,Synonymous_S361S rs725021 1 17952531 [A/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Synonymous_I466I,Synonymous_I427I exm23987 1 17953972 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Missense_V520I,Missense_V481I rs12562076 1 17958240 [T/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L Silent,Silent 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 rs16829867 1 17964474 [T/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Synonymous_I673I,Synonymous_I634I 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 rs6657353 1 18000627 [A/G] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L Silent,Silent rs12742948 1 18006550 [T/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L Silent,Silent 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 rs2270978 1 18023365 [T/C] NM_018125,NM_001011722 ARHGEF10L,ARHGEF10L EXON Synonymous_N1110N,Synonymous_N1071N 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 rs2270976 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 rs7522419 1 18033499 [A/G] rs7528432 1 18034588 [T/C] rs16830549 1 18034640 [A/G] exm2268655 1 18043943 [T/C] rs4920626 1 18046287 [T/G] rs11584168 1 18060436 [T/C] rs2077398 1 18065643 [T/C] rs4920381 1 18092615 [T/C] NM_030812 ACTL8 Silent rs1977251 1 18098553 [A/G] NM_030812 ACTL8 Silent rs10888060 1 18099283 [A/G] NM_030812 ACTL8 Silent exm-rs1847235 1 18123957 [A/G] NM_030812 ACTL8 Silent rs1847235 1 18123957 [A/G] NM_030812 ACTL8 Silent rs16830757 1 18124527 [T/C] NM_030812 ACTL8 Silent rs4920642 1 18128532 [T/C] NM_030812 ACTL8 Silent rs561698 1 18135882 [A/G] NM_030812 ACTL8 Silent rs533374 1 18136684 [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 rs7545559 1 18158156 [T/C] rs495347 1 18163922 [T/C] rs491778 1 18164285 [T/C] rs647325 1 18170886 [A/G] rs697760 1 18179816 [T/G] rs12405926 1 18189103 [A/G] rs615917 1 18190225 [T/C] rs542963 1 18195801 [T/C] rs11203223 1 18196800 [T/G] exm2268656 1 18201318 [T/C] rs597865 1 18212230 [T/C] rs12037123 1 18225521 [T/C] rs620547 1 18231349 [T/C] rs12071205 1 18234374 [T/C] rs1339934 1 18236459 [A/G] rs11203232 1 18240000 [A/G] rs12083022 1 18245365 [A/G] rs12407273 1 18252805 [A/C] rs651743 1 18268281 [A/G] rs2095518 1 18268968 [A/G] rs661977 1 18272751 [T/C] rs1192579 1 18283857 [T/C] rs794230 1 18289252 [T/C] exm-rs16861326 1 18294487 [A/G] rs2095842 1 18297407 [A/G] rs1192607 1 18310576 [T/C] rs6685120 1 18311140 [A/G] rs7340046 1 18312084 [T/C] rs12022529 1 18325257 [T/C] rs11203253 1 18325885 [T/C] rs1890789 1 18331332 [A/G] rs6678740 1 18335916 [A/G] rs17472583 1 18340025 [A/G] rs11203256 1 18340225 [T/C] rs2355459 1 18349764 [A/G] rs4539169 1 18351999 [T/C] rs2355462 1 18352458 [T/C] rs7550969 1 18353743 [T/C] rs10887986 1 18366795 [T/C] rs7523606 1 18370015 [T/C] rs12034254 1 18373009 [T/C] rs1031567 1 18377790 [A/G] rs4920421 1 18392608 [T/C] rs17486629 1 18405073 [T/C] rs9660584 1 18408767 [T/C] rs12740505 1 18427031 [A/G] rs930851 1 18429575 [A/G] rs930850 1 18432024 [A/G] rs12133062 1 18433355 [A/G] rs4920295 1 18438239 [A/C] NM_032880 IGSF21 Silent rs1858589 1 18447551 [T/C] NM_032880 IGSF21 Silent rs4920435 1 18456382 [A/G] NM_032880 IGSF21 Silent rs12036744 1 18461490 [T/C] NM_032880 IGSF21 Silent rs753305 1 18470009 [T/C] NM_032880 IGSF21 Silent rs10907331 1 18471278 [A/G] NM_032880 IGSF21 Silent rs9329469 1 18473343 [T/C] NM_032880 IGSF21 Silent rs9727014 1 18476187 [T/C] NM_032880 IGSF21 Silent rs9661686 1 18477905 [T/C] NM_032880 IGSF21 Silent rs9726406 1 18501662 [A/C] NM_032880 IGSF21 Silent rs749917 1 18503402 [T/C] NM_032880 IGSF21 Silent rs9728569 1 18510033 [T/G] NM_032880 IGSF21 Silent rs1539051 1 18516989 [T/C] NM_032880 IGSF21 Silent rs767654 1 18521689 [T/C] NM_032880 IGSF21 Silent rs12023073 1 18521755 [T/C] NM_032880 IGSF21 Silent rs4920459 1 18527213 [A/G] NM_032880 IGSF21 Silent rs4920460 1 18527267 [T/C] NM_032880 IGSF21 Silent rs9725311 1 18528026 [A/G] NM_032880 IGSF21 Silent rs1033190 1 18528848 [T/G] NM_032880 IGSF21 Silent rs4920461 1 18533281 [A/G] NM_032880 IGSF21 Silent rs11260958 1 18543784 [T/C] NM_032880 IGSF21 Silent rs11578597 1 18545932 [A/G] NM_032880 IGSF21 Silent rs3738087 1 18554356 [T/C] NM_032880 IGSF21 Silent exm24205 1 18554415 [T/C] NM_032880 IGSF21 EXON Missense_P32S exm2273621 1 18554424 [A/C] NM_032880 IGSF21 EXON Missense_P35T rs17436172 1 18556959 [A/G] NM_032880 IGSF21 Silent rs12041734 1 18561590 [T/C] NM_032880 IGSF21 Silent exm2264991 1 18563889 [A/G] NM_032880 IGSF21 Silent rs109490 1 18572901 [A/G] NM_032880 IGSF21 Silent rs223188 1 18585845 [T/C] NM_032880 IGSF21 Silent rs419971 1 18589620 [A/G] NM_032880 IGSF21 Silent rs11801569 1 18600824 [T/C] NM_032880 IGSF21 Silent rs6603893 1 18615392 [A/G] NM_032880 IGSF21 Silent exm24216 1 18618361 [T/G] NM_032880 IGSF21 EXON Missense_V62G rs12134352 1 18631175 [T/C] NM_032880 IGSF21 Silent rs4920474 1 18643247 [T/C] NM_032880 IGSF21 Silent rs6663855 1 18643577 [A/G] NM_032880 IGSF21 Silent rs4920477 1 18643632 [T/C] NM_032880 IGSF21 Silent rs4920478 1 18655339 [A/G] NM_032880 IGSF21 Silent rs552749 1 18659641 [T/C] NM_032880 IGSF21 Silent exm24224 1 18661400 [A/G] NM_032880 IGSF21 EXON Missense_R107Q rs542634 1 18672774 [A/G] NM_032880 IGSF21 Silent rs555115 1 18676961 [A/G] NM_032880 IGSF21 Silent rs539132 1 18680330 [A/G] NM_032880 IGSF21 Silent rs525448 1 18685434 [A/G] NM_032880 IGSF21 Silent 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 rs7543948 1 18693245 [A/C] NM_032880 IGSF21 Silent rs11260991 1 18693707 [T/G] NM_032880 IGSF21 Silent rs12123650 1 18694036 [A/G] NM_032880 IGSF21 Silent rs882916 1 18696215 [A/G] NM_032880 IGSF21 Silent rs10465918 1 18701899 [A/G] NM_032880 IGSF21 Silent 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 rs12566510 1 18705694 [A/G] rs7538502 1 18709741 [T/C] rs1336129 1 18722491 [A/G] rs11810587 1 18722692 [T/C] rs1533622 1 18722846 [A/G] rs12138463 1 18724101 [A/G] rs7512723 1 18728581 [T/C] rs7523920 1 18730305 [T/C] rs867538 1 18732980 [T/C] rs12128025 1 18750431 [T/C] rs869080 1 18751864 [A/G] rs1568340 1 18766850 [T/C] rs3007722 1 18768011 [T/C] rs2992749 1 18770671 [A/G] rs3007727 1 18793520 [A/G] exm-rs3007729 1 18795255 [T/C] rs3007730 1 18797100 [T/G] rs11261020 1 18805564 [T/C] rs1360918 1 18805988 [A/G] 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 rs2992753 1 18808292 [A/C] NM_152375 KLHDC7A EXON Missense_H273N 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 rs4531264 1 18816616 [T/C] rs10907314 1 18817181 [A/G] rs6686713 1 18821416 [T/G] rs909948 1 18825203 [A/G] rs4920327 1 18829672 [A/G] rs2745302 1 18839126 [A/G] rs2816025 1 18851113 [T/G] rs2816030 1 18857598 [T/C] rs4920513 1 18861128 [T/C] rs2745327 1 18876408 [A/G] rs4920514 1 18881334 [A/G] rs10907320 1 18882489 [A/G] rs2816048 1 18893763 [T/C] rs6698315 1 18895806 [A/G] rs2816065 1 18914423 [T/C] rs7543000 1 18932744 [A/G] rs6703076 1 18934081 [T/C] rs4920522 1 18940380 [T/C] exm2250401 1 18961017 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Synonymous_G102G,Synonymous_G102G,Synonymous_G102G exm24465 1 18961612 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_A110V,Missense_A110V,Missense_A110V rs9439713 1 18972776 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs1339062 1 18978482 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs6695765 1 18979320 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs4920338 1 18990793 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs16862125 1 18999794 [A/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs574590 1 19015628 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs2743208 1 19017855 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent exm24487 1 19018263 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_E199G,Missense_E201G,Missense_E201G exm24490 1 19018305 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_R213H,Missense_R215H,Missense_R215H exm24492 1 19018364 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_A233T,Missense_A235T,Missense_A235T rs2076020 1 19018405 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Synonymous_E246E,Synonymous_E248E,Synonymous_E248E rs2743201 1 19027239 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Synonymous_P291P,Synonymous_P293P,Synonymous_P293P rs589463 1 19033575 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs501080 1 19035393 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs6670751 1 19041598 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs17352351 1 19057553 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent rs9439731 1 19059471 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 Silent,Silent,Silent exm24516 1 19062163 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_P396L,Missense_P398L,Missense_P398L exm1742986 1 19062204 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_G410S,Missense_G412S,Missense_G412S exm24524 1 19062345 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_G457S,Missense_G459S,Missense_G459S exm24525 1 19062349 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_Y458C,Missense_Y460C,Missense_Y460C exm24539 1 19062493 [T/C] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_M506T,Silent,Missense_M508T exm24540 1 19062494 [A/G] NM_013945,NM_001135254,NM_002584 PAX7,PAX7,PAX7 EXON Missense_M506I,Silent,Missense_M508I exm2275428 1 19071356 [A/G] NM_001135254 PAX7 EXON Missense_R484H rs1160680 1 19080506 [A/G] rs2841055 1 19088418 [A/G] rs669138 1 19088899 [T/C] rs2841066 1 19091695 [T/C] rs7414734 1 19094738 [A/G] rs16862248 1 19096297 [T/C] rs12565650 1 19108355 [A/G] rs4920537 1 19109183 [T/C] rs7549129 1 19119606 [T/C] rs7533384 1 19119851 [A/G] rs11261071 1 19122339 [T/C] rs7521204 1 19138295 [T/C] exm-rs12063142 1 19139517 [T/C] rs12026106 1 19145099 [T/C] rs12125880 1 19147761 [A/G] rs11261081 1 19149527 [A/C] rs6691420 1 19155969 [T/C] rs11261084 1 19159657 [A/G] rs12035855 1 19163075 [T/G] 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 rs7534618 1 19170078 [T/G] NM_152232 TAS1R2 Silent rs4920561 1 19175593 [A/G] NM_152232 TAS1R2 Silent variant.1295 1 19175835 [T/C] NM_152232 TAS1R2 EXON Synonymous_T489T 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 rs28410948 1 19188456 [T/C] rs9662598 1 19191326 [A/G] rs28652778 1 19194995 [T/C] rs1138333 1 19198064 [T/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent kgp468659 1 19198100 [G/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent kgp8524245 1 19198166 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent kgp15236875 1 19198299 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent kgp6288782 1 19198414 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent kgp4426348 1 19198576 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent GA018624 1 19198627 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent GA018625 1 19198637 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent kgp15504222 1 19198837 [T/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent rs9117 1 19198895 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent kgp24983758 1 19198972 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent kgp1588165 1 19199067 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent kgp25228545 1 19199217 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent kgp15758108 1 19199400 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_P484L,Missense_P544L,Missense_P544L exm24746 1 19199448 [T/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T468N,Missense_T528N,Missense_T528N exm24753 1 19200974 [G/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_G461A,Missense_G521A,Missense_G521A kgp1362896 1 19200988 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_G456G,Synonymous_G516G,Synonymous_G516G exm24759 1 19201068 [T/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V430M,Missense_V490M,Missense_V490M exm24761 1 19201071 [T/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V429I,Missense_V489I,Missense_V489I rs6695033 1 19201919 [T/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T413A,Missense_T473A,Missense_T473A exm24765 1 19201919 [T/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T413A,Missense_T473A,Missense_T473A exm24766 1 19201928 [T/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V410I,Missense_V470I,Missense_V470I exm24769 1 19201951 [T/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_K402T,Missense_K462T,Missense_K462T rs2230708 1 19201956 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_D400D,Synonymous_D460D,Synonymous_D460D rs6426802 1 19202507 [T/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent exm24778 1 19202886 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_C361R,Missense_C421R,Missense_C421R exm2264807 1 19202896 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_A357A,Synonymous_A417A,Synonymous_A417A GA018629 1 19202926 [T/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_A347A,Synonymous_A407A,Synonymous_A407A exm24789 1 19202933 [T/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_E345G,Missense_E405G,Missense_E405G exm24795 1 19203725 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_F328L,Missense_F388L,Missense_F388L kgp10529598 1 19203725 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_F328L,Missense_F388L,Missense_F388L exm24797 1 19203910 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_D319D,Synonymous_D379D,Synonymous_D379D exm24800 1 19203951 [T/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_G306R,Missense_G366R,Missense_G366R kgp789765 1 19203961 [T/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_P302P,Synonymous_P362P,Synonymous_P362P exm24804 1 19203974 [T/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_H298R,Missense_H358R,Missense_H358R GA000342 1 19203997 [C/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_A290A,Synonymous_A350A,Synonymous_A350A exm24808 1 19203999 [A/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_A290S,Missense_A350S,Missense_A350S exm24820 1 19205865 [G/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T230S,Missense_T290S,Missense_T290S exm24821 1 19208194 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_P229L,Missense_P289L,Missense_P289L exm24826 1 19208293 [C/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_P196R,Missense_P256R,Missense_P256R kgp15160198 1 19208316 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Synonymous_I188I,Synonymous_I248I,Synonymous_I248I kgp15749192 1 19209759 [T/C] NM_001161504,NM_170726,NM_003748,NR_039844 ALDH4A1,ALDH4A1,ALDH4A1,MIR4695 EXON Silent,Silent,Silent,Silent exm24847 1 19209792 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_T135M,Missense_T195M,Missense_T195M rs7365362 1 19210816 [T/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent exm24856 1 19211987 [T/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_A85T,Missense_A145T,Missense_A145T exm24865 1 19212051 [G/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_D63E,Missense_D123E,Missense_D123E rs4911985 1 19215440 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 Silent,Silent,Silent exm24875 1 19215861 [T/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V22M,Missense_V82M,Missense_V82M exm24879 1 19215906 [T/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Missense_V7M,Missense_V67M,Missense_V67M exm2232099 1 19215926 [T/C] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Missense_R60Q,Missense_R60Q exm24881 1 19215927 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Missense_R60W,Missense_R60W rs28582076 1 19217295 [A/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent kgp15297026 1 19217299 [C/G] NM_001161504,NM_170726,NM_003748 ALDH4A1,ALDH4A1,ALDH4A1 EXON Silent,Silent,Silent kgp15363246 1 19229092 [A/G] NM_170726,NM_003748 ALDH4A1,ALDH4A1 EXON Silent,Silent exm24900 1 19235138 [T/C] NM_001136265 IFFO2 EXON Missense_V491M rs6673711 1 19235517 [T/C] NM_001136265 IFFO2 Silent exm24907 1 19236932 [T/C] NM_001136265 IFFO2 EXON Missense_R451Q exm24915 1 19243446 [T/C] NM_001136265 IFFO2 EXON Missense_V352I variant.1309 1 19244930 [A/G] NM_001136265 IFFO2 EXON Nonsense_R297X rs6674337 1 19255754 [A/G] NM_001136265 IFFO2 Silent rs17387963 1 19258375 [A/G] NM_001136265 IFFO2 Silent rs16862387 1 19258723 [A/G] NM_001136265 IFFO2 Silent rs992660 1 19261241 [A/G] NM_001136265 IFFO2 Silent rs2024727 1 19274525 [T/C] NM_001136265 IFFO2 Silent rs4912013 1 19284564 [T/C] rs16862410 1 19293290 [T/C] rs17384241 1 19297205 [A/G] rs6697292 1 19320209 [T/G] rs7531434 1 19335792 [A/C] rs7531834 1 19344501 [A/G] rs912845 1 19358015 [A/C] rs10492996 1 19365552 [T/C] rs6683868 1 19375841 [A/G] rs4912036 1 19376017 [A/G] rs10916867 1 19391177 [A/G] 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 rs2146866 1 19405237 [A/G] NM_020765 UBR4 Silent 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 variant.1314 1 19412634 [T/C] NM_020765 UBR4 Silent 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 rs16862517 1 19415439 [T/C] NM_020765 UBR4 EXON Synonymous_L4748L 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 variant.1317 1 19436585 [A/G] NM_020765 UBR4 Silent indel.1318 1 19436596 [D/I] NM_020765 UBR4 EXON exm2250432 1 19436950 [A/G] NM_020765 UBR4 EXON Synonymous_S3967S exm25076 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 newrs113068889 1 19482760 [T/C] NM_020765 UBR4 Silent 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 rs6694521 1 19500729 [A/G] 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 1KG_1_19518754 1 19518754 [D/I] NM_020765 UBR4 EXON 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 rs9426682 1 19533303 [A/G] NM_020765 UBR4 Silent rs2073105 1 19549864 [T/C] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent rs710871 1 19549989 [A/G] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Synonymous_I758I,Synonymous_I758I,Synonymous_I737I,Synonymous_I759I exm25630 1 19550017 [A/G] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_A749V,Missense_A749V,Missense_A728V,Missense_A750V exm25631 1 19550018 [T/C] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_A749T,Missense_A749T,Missense_A728T,Missense_A750T rs3762395 1 19556408 [T/C] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent exm1744334 1 19557348 [T/C] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_R684Q,Missense_R684Q,Missense_R663Q,Missense_R685Q exm25642 1 19557424 [A/G] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Nonsense_R659X,Nonsense_R659X,Nonsense_R638X,Nonsense_R660X exm25650 1 19557838 [A/G] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_R620C,Missense_R620C,Missense_R599C,Missense_R621C variant.1330 1 19557893 [A/C] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Nonsense_Y601X,Nonsense_Y601X,Nonsense_Y580X,Nonsense_Y602X exm25654 1 19557912 [A/G] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_S595L,Missense_S595L,Missense_S574L,Missense_S596L variant.1331 1 19559428 [A/G] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent rs16862632 1 19563900 [T/G] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent exm25678 1 19564513 [A/G] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_R403W,Missense_R404W,Missense_R382W,Missense_R404W exm25679 1 19564521 [T/C] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_R400Q,Missense_R401Q,Missense_R379Q,Missense_R401Q exm25681 1 19564554 [A/G] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_T389M,Missense_T390M,Missense_T368M,Missense_T390M exm25684 1 19564614 [T/C] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_N369S,Missense_N370S,Missense_N348S,Missense_N370S exm25689 1 19565320 [A/G] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_M352T,Missense_M353T,Missense_M331T,Missense_M353T exm25690 1 19565338 [T/C] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_S346N,Missense_S347N,Missense_S325N,Missense_S347N exm25691 1 19565344 [G/C] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_S344T,Missense_S345T,Missense_S323T,Missense_S345T rs2273046 1 19566296 [T/C] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent variant.1332 1 19566311 [T/C] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent exm25697 1 19566340 [A/G] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_T309M,Missense_T309M,Missense_T287M,Missense_T309M exm25701 1 19566382 [A/G] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_L295S,Missense_L295S,Missense_L273S,Missense_L295S exm25705 1 19566858 [A/G] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_P240L,Missense_P240L,Missense_P218L,Missense_P240L exm25706 1 19566860 [G/C] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_D239E,Missense_D239E,Missense_D217E,Missense_D239E rs710865 1 19568972 [A/G] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent exm-rs710865 1 19568972 [A/G] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent variant.1334 1 19570511 [T/C] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 Silent,Silent,Silent,Silent exm25751 1 19577943 [T/C] NM_001271427,NM_001271428,NM_001271429,NM_015047 EMC1,EMC1,EMC1,EMC1 EXON Missense_A21T,Missense_A21T,Missense_A21T,Missense_A21T rs2294942 1 19578192 [A/G] NM_016183 MRTO4 EXON Silent 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 rs1042380 1 19584004 [A/G] NM_016183 MRTO4 EXON Synonymous_E110E 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 rs7551095 1 19586684 [A/G] rs7527253 1 19593199 [T/C] NR_040288,NR_040289 AKR7L,AKR7L EXON Silent,Silent rs4912064 1 19602979 [T/G] 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 rs12407355 1 19627876 [T/C] rs12132200 1 19627931 [T/C] 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 rs859218 1 19640676 [T/C] NM_001040125,NM_001040126,NM_017765 PQLC2,PQLC2,PQLC2 Silent,Silent,Silent exm26063 1 19644218 [A/G] NM_001040125,NM_001040126,NM_017765 PQLC2,PQLC2,PQLC2 EXON Missense_S16N,Silent,Missense_S16N rs4912069 1 19645673 [A/G] NM_001040125,NM_001040126,NM_017765 PQLC2,PQLC2,PQLC2 Silent,Silent,Silent rs3790775 1 19650220 [A/G] NM_001040125,NM_001040126,NM_017765 PQLC2,PQLC2,PQLC2 Silent,Silent,Silent exm26086 1 19652766 [T/C] NM_001040125,NM_001040126,NM_017765 PQLC2,PQLC2,PQLC2 EXON Missense_L137S,Missense_L72S,Missense_L137S exm26088 1 19652789 [A/G] NM_001040125,NM_001040126,NM_017765 PQLC2,PQLC2,PQLC2 EXON Missense_A145T,Missense_A80T,Missense_A145T exm26095 1 19652874 [A/G] NM_001040125,NM_001040126,NM_017765 PQLC2,PQLC2,PQLC2 EXON Missense_G173D,Missense_G108D,Missense_G173D exm26106 1 19653802 [G/C] NM_001040125,NM_001040126,NM_017765 PQLC2,PQLC2,PQLC2 EXON Missense_V234L,Missense_V169L,Missense_V234L rs2268813 1 19666808 [T/C] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent variant.1361 1 19669315 [A/G] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB EXON Silent,Nonsense_Q259X,Silent exm26119 1 19670861 [T/C] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB EXON Silent,Missense_N241S,Missense_N241S rs214327 1 19674070 [T/C] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs214336 1 19678473 [A/C] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs12751502 1 19680532 [T/C] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs169957 1 19683301 [T/G] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs6663076 1 19706751 [A/C] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent newrs74941542 1 19712215 [A/C] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs1472566 1 19713004 [T/C] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs7667 1 19718824 [A/G] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs7513800 1 19725033 [A/G] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs1566531 1 19727896 [A/G] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs4912086 1 19730181 [A/G] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs12026907 1 19738518 [T/C] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs6661421 1 19755204 [T/C] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent exm-rs12045440 1 19765518 [T/G] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs12754186 1 19766326 [T/G] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs10917452 1 19770968 [T/C] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs10492998 1 19772847 [T/C] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs4912096 1 19775113 [T/C] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent exm26147 1 19775375 [A/G] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs4481878 1 19791086 [A/C] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs4912100 1 19798007 [A/G] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs924519 1 19806259 [T/C] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs10917459 1 19806692 [T/G] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent exm2259924 1 19806692 [T/G] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs10917461 1 19809758 [A/C] NR_038125,NM_001206540,NM_004930 CAPZB,CAPZB,CAPZB Silent,Silent,Silent rs2314146 1 19824008 [A/G] rs11807599 1 19831939 [T/C] rs12084204 1 19832567 [T/C] rs12087005 1 19837932 [A/G] exm-rs12138950 1 19839115 [A/C] rs10799824 1 19841174 [A/G] exm-rs10917468 1 19843354 [T/C] rs9783019 1 19849656 [A/G] rs4912110 1 19861027 [T/C] rs4912122 1 19876438 [A/G] rs1572823 1 19889959 [T/C] rs2792029 1 19899537 [A/C] rs1737416 1 19922387 [T/C] rs1770489 1 19945189 [A/G] NM_001032363,NM_001204089,NM_001204083,NM_001204082,NR_033757,NR_033758,NM_001204088 MINOS1,C1orf151-NBL1,MINOS1,MINOS1,MINOS1,MINOS1,C1orf151-NBL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1320978 1 19947973 [A/G] NM_001032363,NM_001204089,NM_001204083,NM_001204082,NR_033757,NR_033758,NM_001204088 MINOS1,C1orf151-NBL1,MINOS1,MINOS1,MINOS1,MINOS1,C1orf151-NBL1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1745453 1 19952887 [T/G] NM_001032363,NM_001204089,NM_001204083,NM_001204082,NR_033757,NR_033758,NM_001204088 MINOS1,C1orf151-NBL1,MINOS1,MINOS1,MINOS1,MINOS1,C1orf151-NBL1 EXON Nonsense_E77X,Silent,Silent,Nonsense_E61X,Silent,Silent,Silent rs2281237 1 19953165 [A/G] NM_001032363,NM_001204089,NM_001204083,NM_001204082,NR_033757,NR_033758,NM_001204088 MINOS1,C1orf151-NBL1,MINOS1,MINOS1,MINOS1,MINOS1,C1orf151-NBL1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs880554 1 19954014 [T/G] NM_001032363,NM_001204089,NM_001204083,NM_001204082,NR_033757,NR_033758,NM_001204088 MINOS1,C1orf151-NBL1,MINOS1,MINOS1,MINOS1,MINOS1,C1orf151-NBL1 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2792061 1 19958729 [A/G] NM_001204089,NM_001204088 C1orf151-NBL1,C1orf151-NBL1 Silent,Silent rs7523079 1 19962874 [T/C] NM_001204089,NM_001204088 C1orf151-NBL1,C1orf151-NBL1 Silent,Silent rs1115163 1 19976782 [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 Silent,Silent,Silent,Silent,Silent,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 rs6693503 1 19987294 [A/G] exm26216 1 19992380 [C/G] NM_000871 HTR6 EXON Missense_S45W exm2250466 1 19992510 [A/G] NM_000871 HTR6 EXON Synonymous_L88L rs1805054 1 19992513 [T/C] NM_000871 HTR6 EXON Synonymous_Y89Y rs6699866 1 19999645 [A/C] NM_000871 HTR6 Silent rs9659997 1 20002518 [T/C] NM_000871 HTR6 Silent newrs140928691 1 20005219 [A/G] NM_000871 HTR6 Silent 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 rs9064 1 20008880 [T/G] NM_181719 TMCO4 EXON Silent exm26299 1 20009745 [A/G] NM_181719 TMCO4 EXON Missense_P565S exm26311 1 20009849 [T/C] NM_181719 TMCO4 EXON Missense_G530E rs7533981 1 20014739 [T/C] NM_181719 TMCO4 Silent rs3748748 1 20018195 [A/G] NM_181719 TMCO4 Silent rs1883567 1 20020466 [T/G] NM_181719 TMCO4 Silent exm26319 1 20020986 [T/C] NM_181719 TMCO4 EXON Missense_G481S rs4515815 1 20020994 [T/C] NM_181719 TMCO4 EXON Missense_R478H 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 rs6657561 1 20030565 [T/C] NM_181719 TMCO4 Silent rs4486471 1 20056631 [T/C] NM_181719 TMCO4 Silent 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 rs6426825 1 20066490 [T/C] NM_181719 TMCO4 Silent 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 variant.1379 1 20073655 [T/C] NM_181719 TMCO4 Silent 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 variant.1381 1 20073737 [A/G] NM_181719 TMCO4 EXON Nonsense_R178X 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 rs10917532 1 20082849 [A/G] NM_181719 TMCO4 Silent rs1473688 1 20087406 [A/G] NM_181719 TMCO4 Silent rs1266438 1 20096176 [T/G] NM_181719 TMCO4 Silent exm26412 1 20097817 [A/G] NM_181719 TMCO4 EXON Missense_P113L exm26418 1 20097941 [T/G] NM_181719 TMCO4 EXON Missense_Q72K rs6426826 1 20101034 [A/G] NM_181719 TMCO4 Silent 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 rs7513083 1 20138121 [T/C] rs7513369 1 20138436 [A/C] 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 rs3806310 1 20142681 [A/G] exm-rs3806308 1 20142866 [T/C] rs17396847 1 20144332 [A/G] rs9651026 1 20146417 [A/G] rs4655232 1 20150998 [A/G] rs4509550 1 20158241 [T/C] rs6426833 1 20171860 [A/G] rs10917557 1 20173263 [A/G] rs10737482 1 20173858 [T/C] rs6690967 1 20183342 [T/C] rs16823060 1 20188458 [T/G] rs4654897 1 20191436 [T/C] rs4654903 1 20200990 [A/G] 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 indel.1388 1 20234076 [I/D] NM_015207 OTUD3 EXON 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 rs1046548 1 20238343 [A/G] NM_015207 OTUD3 EXON Silent exm26538 1 20246852 [T/C] NM_014589 PLA2G2E EXON Missense_K126R exm26541 1 20246876 [T/C] NM_014589 PLA2G2E EXON Missense_R118H rs1108974 1 20248709 [A/G] NM_014589 PLA2G2E Silent 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 rs1796915 1 20260536 [A/G] rs1796918 1 20262931 [T/C] rs818968 1 20279405 [T/C] rs12023742 1 20292006 [A/C] rs13375942 1 20292378 [T/C] rs6672057 1 20293791 [T/C] rs4655020 1 20295022 [T/G] rs10916683 1 20300544 [A/G] rs11677 1 20301964 [A/G] NM_001161727,NM_001161729,NM_000300,NM_001161728 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Silent,Silent,Silent,Silent exm26568 1 20302201 [T/C] NM_001161727,NM_001161729,NM_000300,NM_001161728 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Missense_R143H,Missense_R143H,Missense_R143H,Missense_R143H exm26570 1 20302261 [A/G] NM_001161727,NM_001161729,NM_000300,NM_001161728 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Missense_T123M,Missense_T123M,Missense_T123M,Missense_T123M exm26577 1 20304583 [A/G] NM_001161727,NM_001161729,NM_000300,NM_001161728 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Missense_R73C,Missense_R73C,Missense_R73C,Missense_R73C exm26590 1 20305003 [A/G] NM_001161727,NM_001161729,NM_000300,NM_001161728 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Missense_H19Y,Missense_H19Y,Missense_H19Y,Missense_H19Y exm2232279 1 20305016 [A/G] NM_001161727,NM_001161729,NM_000300,NM_001161728 PLA2G2A,PLA2G2A,PLA2G2A,PLA2G2A EXON Synonymous_G14G,Synonymous_G14G,Synonymous_G14G,Synonymous_G14G rs12568139 1 20311676 [A/G] rs12021819 1 20316055 [A/C] rs1093661 1 20342503 [T/G] rs12410635 1 20373391 [T/G] rs617363 1 20380145 [T/C] rs606980 1 20394713 [T/C] rs11573191 1 20396415 [A/G] rs656110 1 20397240 [A/G] NM_000929 PLA2G5 Silent rs11573219 1 20402767 [T/C] NM_000929 PLA2G5 Silent rs11573238 1 20406586 [A/G] NM_000929 PLA2G5 Silent rs660414 1 20410795 [A/G] NM_000929 PLA2G5 Silent exm26638 1 20417136 [A/G] NM_000929 PLA2G5 EXON Missense_R123Q rs6699362 1 20423099 [T/G] rs656755 1 20424167 [T/G] rs599367 1 20434402 [T/C] rs7518058 1 20437563 [T/C] 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 indel.1397 1 20442071 [I/D] NM_012400,NM_001271814 PLA2G2D,PLA2G2D EXON 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 rs12722987 1 20455220 [A/C] 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 indel.1408 1 20474722 [D/I] NM_022819 PLA2G2F EXON 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 rs876171 1 20487743 [T/C] exm26723 1 20490518 [T/C] NM_001105572 PLA2G2C EXON Missense_Q140R exm2250501 1 20490580 [A/G] NM_001105572 PLA2G2C EXON Synonymous_S119S rs7515752 1 20491842 [A/G] NM_001105572 PLA2G2C Silent rs2301475 1 20499168 [T/C] NM_001105572 PLA2G2C Silent indel.1411 1 20501498 [I/D] NM_001105572 PLA2G2C rs12139100 1 20501582 [A/G] NM_001105572 PLA2G2C EXON Nonsense_R36X exm26737 1 20501582 [A/G] NM_001105572 PLA2G2C EXON Nonsense_R36X exm26743 1 20501665 [A/G] NM_001105572 PLA2G2C EXON Missense_F8S rs2301478 1 20501974 [A/G] variant.1413 1 20517136 [T/C] NM_152376 UBXN10 EXON Nonsense_Q28X variant.1415 1 20517355 [T/C] NM_152376 UBXN10 EXON Nonsense_Q101X 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 variant.1417 1 20517583 [T/C] NM_152376 UBXN10 EXON Nonsense_R177X indel.1418 1 20517621 [D/I] NM_152376 UBXN10 EXON 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 rs7542020 1 20520732 [T/C] rs3820320 1 20530208 [A/G] rs2213801 1 20544835 [A/G] rs2097532 1 20551745 [T/C] rs6701650 1 20560297 [A/G] rs4655165 1 20562389 [A/G] rs10916732 1 20570287 [T/G] rs2157508 1 20572621 [T/C] rs7541616 1 20580487 [T/C] rs10916742 1 20588698 [T/C] rs763202 1 20592887 [T/C] rs10916749 1 20604959 [T/G] rs4422977 1 20613063 [T/G] rs16823800 1 20615227 [T/C] rs12738826 1 20617419 [T/C] NM_001039500 VWA5B1 EXON Silent rs10916754 1 20624063 [T/C] NM_001039500 VWA5B1 Silent rs4654849 1 20632407 [A/G] NM_001039500 VWA5B1 Silent rs12095205 1 20636232 [A/G] NM_001039500 VWA5B1 Silent rs10916761 1 20637374 [T/C] NM_001039500 VWA5B1 Silent 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 variant.1425 1 20645874 [T/G] NM_001039500 VWA5B1 Silent variant.1426 1 20645925 [T/G] NM_001039500 VWA5B1 EXON Nonsense_E298X exm26837 1 20649979 [T/C] NM_001039500 VWA5B1 EXON Missense_I366T rs4590651 1 20652798 [T/G] NM_001039500 VWA5B1 Silent exm26842 1 20656718 [A/G] NM_001039500 VWA5B1 EXON Missense_D434N exm26845 1 20656824 [A/G] NM_001039500 VWA5B1 EXON Missense_N469S rs2072753 1 20657352 [T/C] NM_001039500 VWA5B1 Silent 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 rs11582960 1 20671961 [A/G] NM_001039500 VWA5B1 EXON Missense_R880H exm26890 1 20671961 [A/G] NM_001039500 VWA5B1 EXON Missense_R880H variant.1429 1 20671998 [A/C] NM_001039500 VWA5B1 EXON Nonsense_C892X 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 rs2072751 1 20680718 [A/G] NM_001039500 VWA5B1 EXON Missense_E1204K exm26925 1 20680718 [A/G] NM_001039500 VWA5B1 EXON Missense_E1204K rs1886740 1 20695831 [T/C] NR_033887 LOC339505 Silent rs10159448 1 20701277 [T/C] NR_033887 LOC339505 Silent rs10916779 1 20705117 [T/C] NR_033887 LOC339505 Silent exm2250514 1 20717763 [A/C] NR_033887 LOC339505 Silent rs879484 1 20729212 [T/C] NR_033887 LOC339505 Silent rs10753498 1 20733376 [T/C] NR_033887 LOC339505 Silent rs7533344 1 20735361 [A/G] NR_033887 LOC339505 Silent rs6426635 1 20735452 [A/G] NR_033887 LOC339505 Silent rs10916790 1 20736532 [T/C] NR_033887 LOC339505 Silent rs10799633 1 20740016 [A/C] NR_033887 LOC339505 Silent rs7537381 1 20750561 [A/G] NR_033887 LOC339505 Silent rs10753501 1 20758192 [A/C] rs7513147 1 20762133 [A/C] rs10799636 1 20770887 [T/C] rs618041 1 20792099 [T/C] rs12724366 1 20798620 [A/G] rs576436 1 20801589 [T/C] rs1152984 1 20814522 [A/G] rs529974 1 20826910 [A/G] NM_024544 MUL1 EXON 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 variant.1435 1 20828562 [T/C] NM_024544 MUL1 EXON Nonsense_W110X exm1749190 1 20829733 [A/G] NM_024544 MUL1 EXON Missense_P64S exm26990 1 20829761 [A/C] NM_024544 MUL1 EXON Missense_I54M rs12566937 1 20832674 [T/G] NM_024544 MUL1 Silent exm26996 1 20834489 [T/C] NM_024544 MUL1 EXON Missense_C10Y rs7544348 1 20851834 [T/C] rs616145 1 20862106 [A/G] rs645496 1 20866735 [T/G] rs12072199 1 20877812 [T/C] exm2273622 1 20879548 [A/G] NM_207334 FAM43B EXON Missense_A28T rs1253890 1 20890149 [T/C] rs472055 1 20893965 [A/G] rs1890005 1 20899016 [T/C] rs1152991 1 20904743 [T/C] rs640880 1 20907051 [A/G] kgp25087902 1 20915507 [A/G] NM_001785 CDA EXON Silent kgp25241726 1 20915577 [A/G] NM_001785 CDA EXON Silent kgp5980907 1 20915590 [T/C] NM_001785 CDA EXON Silent exm27043 1 20915701 [A/C] NM_001785 CDA EXON Missense_K27Q rs818202 1 20916791 [A/G] NM_001785 CDA Silent rs471760 1 20917206 [A/G] NM_001785 CDA Silent rs818199 1 20924260 [A/G] NM_001785 CDA Silent rs818197 1 20924483 [A/C] NM_001785 CDA Silent rs4655226 1 20928284 [T/C] NM_001785 CDA Silent rs12022958 1 20928916 [T/G] NM_001785 CDA Silent kgp15680111 1 20931449 [A/G] NM_001785 CDA EXON Synonymous_P61P rs12036909 1 20933278 [T/C] NM_001785 CDA Silent rs527912 1 20934283 [A/G] NM_001785 CDA Silent rs558946 1 20935358 [A/C] NM_001785 CDA Silent variant.1440 1 20940392 [A/G] NM_001785 CDA EXON Synonymous_E108E rs3738130 1 20940463 [T/C] NM_001785 CDA Silent 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 kgp6410668 1 20945055 [T/C] NM_001785 CDA EXON Synonymous_T145T GA000375 1 20945251 [C/G] NM_001785 CDA EXON Silent GA018656 1 20945252 [C/G] NM_001785 CDA EXON Silent rs10916832 1 20945644 [T/C] rs6687370 1 20951359 [T/C] 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 rs3102071 1 20968011 [A/G] NM_032409 PINK1 Silent 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 variant.1465 1 20976925 [A/G] NM_032409 PINK1 Silent exm27164 1 20976940 [A/G] NM_032409 PINK1 EXON Missense_R501Q variant.1466 1 20976973 [A/G] NM_032409 PINK1 EXON Nonsense_W512X indel.1467 1 20976995 [D/I] NM_032409 PINK1 EXON rs1043424 1 20977000 [A/C] NM_032409 PINK1 EXON Missense_N521T exm27167 1 20977000 [A/C] NM_032409 PINK1 EXON Missense_N521T rs650616 1 20978058 [A/G] 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 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 rs623817 1 20986078 [A/G] NM_005216 DDOST Silent 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 rs3753834 1 20988911 [T/C] exm27277 1 20992819 [G/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_D933E,Missense_D932E exm27278 1 20992824 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_E932K,Missense_E931K rs617367 1 20993151 [T/G] NM_020816,NM_001122819 KIF17,KIF17 Silent,Silent exm27291 1 20998491 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_E888K,Missense_E888K exm27292 1 20998508 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_R882H,Missense_R882H exm27293 1 20998509 [A/G] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_R882C,Missense_R882C exm27295 1 20998545 [T/A] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_R870W,Missense_R870W exm27296 1 20998548 [A/G] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_R869C,Missense_R869C indel.1474 1 20998553 [I/D] NM_020816,NM_001122819 KIF17,KIF17 EXON exm2273623 1 20998568 [T/A] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_E862V,Missense_E862V exm27298 1 20998598 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_R852H,Missense_R852H rs10916848 1 21002613 [T/C] NM_020816,NM_001122819 KIF17,KIF17 Silent,Silent exm27306 1 21009189 [T/G] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_E807A,Missense_E807A exm27310 1 21009211 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_V800I,Missense_V800I exm27319 1 21009279 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_R777H,Missense_R777H exm27321 1 21009294 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_R772H,Missense_R772H exm27327 1 21011330 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_V735I,Missense_V735I exm27329 1 21011338 [A/G] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_P732L,Missense_P732L exm27333 1 21011401 [A/G] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_P711L,Missense_P711L exm27340 1 21011510 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_V675I,Missense_V675I exm27344 1 21012549 [A/G] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_P670L,Missense_P670L exm27347 1 21012595 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_E655K,Missense_E655K exm27348 1 21012609 [A/G] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_P650L,Missense_P650L exm27357 1 21013958 [A/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_A621S,Missense_A621S exm27362 1 21014017 [A/G] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_P601L,Missense_P601L exm27363 1 21014027 [C/G] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_Q598E,Missense_Q598E exm27381 1 21014202 [A/T] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_S539R,Missense_S539R exm27390 1 21014335 [A/G] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_V495A,Missense_V495A exm27401 1 21016771 [A/G] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_R431W,Missense_R431W exm27405 1 21016815 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_R416H,Missense_R416H rs628265 1 21018485 [A/G] NM_020816,NM_001122819 KIF17,KIF17 Silent,Silent rs610719 1 21020128 [T/G] NM_020816,NM_001122819 KIF17,KIF17 Silent,Silent rs16824489 1 21022402 [A/G] NM_020816,NM_001122819 KIF17,KIF17 Silent,Silent rs16824496 1 21024460 [A/G] NM_020816,NM_001122819 KIF17,KIF17 Silent,Silent exm27412 1 21024901 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_V402M,Missense_V402M exm27418 1 21030956 [T/G] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_S369R,Missense_S369R exm27424 1 21031042 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_I341V,Missense_I341V exm27436 1 21031125 [A/G] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_S313L,Missense_S313L exm27439 1 21031152 [G/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_T304S,Missense_T304S exm27440 1 21031159 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_G302S,Missense_G302S exm2259945 1 21031983 [A/G] NM_020816,NM_001122819 KIF17,KIF17 Silent,Silent rs752555 1 21032041 [A/G] NM_020816,NM_001122819 KIF17,KIF17 Silent,Silent exm27463 1 21036276 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_M176V,Missense_M176V exm27464 1 21036291 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_V171M,Missense_V171M exm27473 1 21042018 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_R116G,Missense_R116G exm27474 1 21042033 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_R111G,Missense_R111G exm27476 1 21042050 [C/G] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_P105R,Missense_P105R exm27487 1 21043968 [T/C] NM_020816,NM_001122819 KIF17,KIF17 Silent,Silent exm27489 1 21044007 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_E65K,Missense_E65K exm27493 1 21044052 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_K50E,Missense_K50E exm27495 1 21044070 [T/C] NM_020816,NM_001122819 KIF17,KIF17 EXON Missense_A44T,Missense_A44T rs659046 1 21047725 [A/G] NM_001103160,NM_001103161 SH2D5,SH2D5 EXON Silent,Silent exm1751058 1 21048439 [A/G] NM_001103160,NM_001103161 SH2D5,SH2D5 EXON Missense_A289V,Missense_A373V exm27506 1 21048472 [A/G] NM_001103160,NM_001103161 SH2D5,SH2D5 EXON Missense_F278S,Missense_F362S exm27512 1 21049313 [T/C] NM_001103160,NM_001103161 SH2D5,SH2D5 EXON Missense_R251H,Missense_R335H exm27513 1 21049317 [T/C] NM_001103160,NM_001103161 SH2D5,SH2D5 EXON Missense_V250M,Missense_V334M exm27520 1 21050155 [A/G] NM_001103160,NM_001103161 SH2D5,SH2D5 EXON Missense_L207P,Missense_L291P exm27537 1 21050719 [T/C] NM_001103160,NM_001103161 SH2D5,SH2D5 EXON Missense_R135H,Missense_R219H exm27543 1 21050921 [A/G] NM_001103160,NM_001103161 SH2D5,SH2D5 EXON Missense_R116W,Missense_R200W exm27548 1 21050969 [T/C] NM_001103160,NM_001103161 SH2D5,SH2D5 EXON Missense_G100S,Missense_G184S exm27552 1 21051058 [T/C] NM_001103160,NM_001103161 SH2D5,SH2D5 EXON Missense_R70Q,Missense_R154Q exm27554 1 21051116 [A/G] NM_001103160,NM_001103161 SH2D5,SH2D5 EXON Missense_H51Y,Missense_H135Y exm27561 1 21052477 [C/G] NM_001103160,NM_001103161 SH2D5,SH2D5 EXON Missense_R25P,Missense_R109P exm1751106 1 21052532 [A/G] NM_001103160,NM_001103161 SH2D5,SH2D5 EXON Missense_R7C,Missense_R91C exm27574 1 21054041 [A/C] NM_001103160,NM_001103161 SH2D5,SH2D5 EXON Silent,Missense_V48G exm27580 1 21054480 [A/G] NM_001103160,NM_001103161 SH2D5,SH2D5 EXON Silent,Missense_R20W exm1751193 1 21054485 [T/G] NM_001103160,NM_001103161 SH2D5,SH2D5 EXON Silent,Missense_P18H rs710311 1 21062001 [T/C] rs12123092 1 21067001 [A/G] 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 rs2274119 1 21071967 [T/C] NM_016287 HP1BP3 Silent exm2250557 1 21072050 [A/C] NM_016287 HP1BP3 EXON Synonymous_P451P rs7552264 1 21087927 [A/G] NM_016287 HP1BP3 Silent rs1985278 1 21091861 [T/G] NM_016287 HP1BP3 Silent exm27638 1 21106855 [T/C] NM_016287 HP1BP3 EXON Missense_A27T exm27655 1 21137376 [A/G] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Synonymous_A1477A,Synonymous_A1513A,Synonymous_A1483A rs7520481 1 21140385 [T/G] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent newrs141863024 1 21155638 [A/G] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent exm27666 1 21155679 [A/G] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_M1327T,Missense_M1363T,Missense_M1333T rs7553394 1 21167404 [A/G] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Synonymous_L1280L,Synonymous_L1316L,Synonymous_L1286L newrs147925139 1 21177750 [T/C] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent exm27682 1 21177755 [A/C] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_E1200D,Missense_E1236D,Missense_E1206D exm27684 1 21177800 [T/A] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_D1185E,Missense_D1221E,Missense_D1191E exm27686 1 21177892 [T/C] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_G1155S,Missense_G1191S,Missense_G1161S exm27691 1 21180098 [A/G] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_T1113M,Missense_T1149M,Missense_T1119M exm27694 1 21180162 [A/G] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_R1092W,Missense_R1128W,Missense_R1098W rs2305463 1 21180181 [T/C] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent exm27708 1 21191148 [A/G] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_R887W,Missense_R923W,Missense_R893W exm27730 1 21226211 [A/C] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_V604F,Missense_V603F,Missense_V610F exm27733 1 21226375 [T/C] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_S549N,Missense_S548N,Missense_S555N exm27735 1 21226402 [A/G] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_V540A,Missense_V539A,Missense_V546A exm27743 1 21231453 [T/C] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_I503V,Missense_I502V,Missense_I509V exm27744 1 21231460 [T/G] NM_003760,NM_001198801,NM_001198802 EIF4G3,EIF4G3,EIF4G3 EXON Missense_Q500H,Missense_Q499H,Missense_Q506H exm27747 1 21267993 [C/G] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_P496A,Missense_P495A,Missense_P502A,Missense_P507A exm27748 1 21268050 [T/C] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_A477T,Missense_A476T,Missense_A483T,Missense_A488T exm27749 1 21268143 [T/C] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_I446V,Missense_I445V,Missense_I452V,Missense_I457V exm27751 1 21268164 [T/C] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_V439I,Missense_V438I,Missense_V445I,Missense_V450I exm27753 1 21268194 [G/C] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_P429A,Missense_P428A,Missense_P435A,Missense_P440A exm27764 1 21268346 [T/C] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_Q378R,Missense_Q377R,Missense_Q384R,Missense_Q389R exm27767 1 21268421 [A/G] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_T353I,Missense_T352I,Missense_T359I,Missense_T364I exm1758770 1 21268475 [T/A] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_I335K,Missense_I334K,Missense_I341K,Missense_I346K exm27774 1 21268644 [T/C] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_I279V,Missense_I278V,Missense_I285V,Missense_I290V exm27777 1 21268710 [T/C] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_V257I,Missense_V256I,Missense_V263I,Missense_V268I rs12021529 1 21306161 [T/C] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent exm27790 1 21306835 [T/C] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_N106S,Missense_N106S,Missense_N113S,Missense_N117S exm27792 1 21306857 [A/G] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_P99S,Missense_P99S,Missense_P106S,Missense_P110S exm27794 1 21306889 [T/G] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_Q88P,Missense_Q88P,Missense_Q95P,Missense_Q99P exm27797 1 21306910 [T/G] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 EXON Missense_P81H,Missense_P81H,Missense_P88H,Missense_P92H rs1110240 1 21324933 [T/C] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs2174689 1 21329128 [T/C] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs12130664 1 21332812 [T/G] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs4654732 1 21337313 [T/G] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs6681064 1 21339644 [A/G] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs12078306 1 21339727 [A/G] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs6689852 1 21341051 [T/C] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent kgp5318568 1 21351885 [T/C] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent rs12567861 1 21395133 [T/C] NM_003760,NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent,Silent kgp9119075 1 21441998 [T/C] NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent kgp10979704 1 21442736 [T/C] NM_001198801,NM_001198802,NM_001198803 EIF4G3,EIF4G3,EIF4G3 Silent,Silent,Silent rs1609558 1 21525228 [T/C] rs3026913 1 21544601 [T/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Silent,Silent,Silent,Silent exm27815 1 21546459 [T/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_E765K,Missense_E768K,Missense_E752K,Missense_E756K exm27820 1 21546612 [T/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_V714I,Missense_V717I,Missense_V701I,Missense_V705I rs2038089 1 21551457 [A/G] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27825 1 21551745 [A/G] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_R677W,Missense_R680W,Missense_R664W,Missense_R668W exm2250731 1 21551809 [T/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Synonymous_P655P,Synonymous_P658P,Synonymous_P642P,Synonymous_P646P exm27831 1 21551823 [T/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_V651M,Missense_V654M,Missense_V638M,Missense_V642M exm27836 1 21551904 [A/G] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_R624W,Missense_R627W,Missense_R611W,Missense_R615W variant.1492 1 21553647 [T/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent rs9426666 1 21556887 [T/G] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27850 1 21560060 [T/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_N551S,Missense_N554S,Missense_N538S,Missense_N542S exm27858 1 21562343 [A/G] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Synonymous_D519D,Synonymous_D522D,Synonymous_D506D,Synonymous_D510D exm27859 1 21562354 [T/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_V516M,Missense_V519M,Missense_V503M,Missense_V507M exm27867 1 21564631 [T/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_S459N,Missense_S462N,Missense_S446N,Missense_S450N exm27870 1 21571570 [T/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_N394S,Missense_N397S,Missense_N381S,Missense_N385S rs12562197 1 21571601 [A/G] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27879 1 21573802 [T/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_V356M,Missense_V359M,Missense_V343M,Missense_V347M exm27881 1 21573817 [T/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_T351A,Missense_T354A,Missense_T338A,Missense_T342A exm27882 1 21573855 [A/G] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_T338I,Missense_T341I,Missense_T325I,Missense_T329I rs212516 1 21575456 [T/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27891 1 21582583 [T/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_G290S,Missense_G293S,Missense_G277S,Missense_G281S rs212524 1 21583311 [T/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27906 1 21586808 [T/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_I188V,Missense_I191V,Missense_I175V,Missense_I179V exm27911 1 21586862 [T/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_E170K,Missense_E173K,Missense_E157K,Missense_E161K rs2282714 1 21587849 [A/G] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 Silent,Silent,Silent,Silent exm27920 1 21599272 [A/G] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_P135L,Missense_P138L,Missense_P122L,Missense_P126L exm27926 1 21605750 [A/C] NM_001113349,NM_001397,NM_001113348,NM_001113347 ECE1,ECE1,ECE1,ECE1 EXON Missense_L69V,Missense_L72V,Missense_L56V,Missense_L60V rs213051 1 21621536 [T/G] NM_001113348,NR_038404 ECE1,LOC100506801 Silent,Silent rs10916958 1 21625145 [T/C] NM_001113348,NR_038404 ECE1,LOC100506801 EXON Silent,Silent exm2263817 1 21629447 [A/C] NM_001113348 ECE1 Silent rs2051031 1 21631472 [T/C] NM_001113348 ECE1 Silent rs84853 1 21641522 [T/C] NM_001113348 ECE1 Silent rs3026831 1 21644469 [A/G] NM_001113348 ECE1 Silent rs213032 1 21654735 [T/C] NM_001113348 ECE1 Silent rs11805268 1 21668873 [A/G] NM_001113348 ECE1 Silent rs2745251 1 21674005 [T/C] rs10916967 1 21682361 [A/G] rs16825276 1 21685445 [T/C] rs2796354 1 21687854 [A/G] rs785198 1 21697469 [T/C] rs7530779 1 21709489 [A/G] rs10916972 1 21711731 [A/G] rs12563141 1 21723308 [T/C] rs4654938 1 21785981 [T/G] NM_001256417,NM_032264,NR_046176,NM_001256416 NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent exm-rs4654748 1 21786068 [T/C] NM_001256417,NM_032264,NR_046176,NM_001256416 NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent indel.1502 1 21795275 [D/I] NM_001256417,NM_032264,NR_046176,NM_001256416 NBPF3,NBPF3,NBPF3,NBPF3 EXON exm27955 1 21795375 [T/C] NM_001256417,NM_032264,NR_046176,NM_001256416 NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_R110W,Silent,Missense_R110W exm27957 1 21795388 [A/G] NM_001256417,NM_032264,NR_046176,NM_001256416 NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_Y114C,Silent,Missense_Y114C rs1827293 1 21795388 [A/G] NM_001256417,NM_032264,NR_046176,NM_001256416 NBPF3,NBPF3,NBPF3,NBPF3 EXON Silent,Missense_Y114C,Silent,Missense_Y114C rs7537914 1 21796616 [A/G] NM_001256417,NM_032264,NR_046176,NM_001256416 NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent exm27961 1 21797204 [C/G] NM_001256417,NM_032264,NR_046176,NM_001256416 NBPF3,NBPF3,NBPF3,NBPF3 EXON Missense_E71D,Missense_E141D,Silent,Missense_E141D exm27963 1 21797221 [A/G] NM_001256417,NM_032264,NR_046176,NM_001256416 NBPF3,NBPF3,NBPF3,NBPF3 EXON Missense_E77G,Missense_E147G,Silent,Missense_E147G newrs11584459 1 21799413 [T/C] NM_001256417,NM_032264,NR_046176,NM_001256416 NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent exm27993 1 21799979 [A/G] NM_001256417,NM_032264,NR_046176,NM_001256416 NBPF3,NBPF3,NBPF3,NBPF3 EXON Missense_G211R,Missense_G281R,Silent,Missense_G281R indel.1508 1 21800057 [D/I] NM_001256417,NM_032264,NR_046176,NM_001256416 NBPF3,NBPF3,NBPF3,NBPF3 EXON variant.1509 1 21800078 [A/G] NM_001256417,NM_032264,NR_046176,NM_001256416 NBPF3,NBPF3,NBPF3,NBPF3 EXON Missense_E244K,Missense_E314K,Silent,Missense_E314K exm28004 1 21801440 [C/G] NM_001256417,NM_032264,NR_046176,NM_001256416 NBPF3,NBPF3,NBPF3,NBPF3 EXON Missense_P260A,Missense_P330A,Silent,Missense_P330A exm28008 1 21801444 [T/G] NM_001256417,NM_032264,NR_046176,NM_001256416 NBPF3,NBPF3,NBPF3,NBPF3 EXON Missense_R261M,Missense_R331M,Silent,Missense_R331I rs4654947 1 21805048 [T/C] NM_001256417,NM_032264,NR_046176,NM_001256416 NBPF3,NBPF3,NBPF3,NBPF3 Silent,Silent,Silent,Silent rs2316851 1 21815174 [A/G] rs904927 1 21815660 [T/C] rs10799701 1 21820990 [A/G] rs1780324 1 21821757 [A/G] exm-rs1780324 1 21821757 [A/G] exm-rs1697421 1 21823292 [T/C] rs16825455 1 21837755 [A/G] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL Silent,Silent,Silent rs869179 1 21840129 [A/G] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL Silent,Silent,Silent rs12116444 1 21842892 [T/C] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL Silent,Silent,Silent rs1256323 1 21851312 [T/G] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL Silent,Silent,Silent rs10917006 1 21864206 [T/C] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL Silent,Silent,Silent rs12565845 1 21866625 [A/G] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL Silent,Silent,Silent rs12127343 1 21869773 [A/G] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL Silent,Silent,Silent rs885814 1 21875916 [T/C] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL Silent,Silent,Silent rs885813 1 21877074 [T/C] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL Silent,Silent,Silent rs3767155 1 21885195 [T/C] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL Silent,Silent,Silent newrs143358506 1 21887167 [T/C] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL EXON Silent,Silent,Missense_L37P exm28108 1 21887629 [A/G] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL EXON Missense_K19R,Silent,Missense_K74R exm28122 1 21889718 [A/G] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL EXON Missense_R83Q,Missense_R61Q,Missense_R138Q exm28124 1 21889741 [A/G] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL EXON Missense_E91K,Missense_E69K,Missense_E146K exm28126 1 21889759 [T/C] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL EXON Missense_R97C,Missense_R75C,Missense_R152C exm28129 1 21890590 [A/G] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL EXON Missense_A122T,Missense_A100T,Missense_A177T exm28131 1 21890632 [A/G] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL EXON Missense_E136K,Missense_E114K,Missense_E191K exm28137 1 21890709 [T/C] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL EXON Synonymous_D161D,Synonymous_D139D,Synonymous_D216D variant.1520 1 21890710 [A/G] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL Silent,Silent,Silent rs3767150 1 21894214 [A/G] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL Silent,Silent,Silent indel.1522 1 21894605 [D/I] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL EXON exm28140 1 21894682 [T/C] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL EXON Missense_T190M,Missense_T168M,Missense_T245M exm28144 1 21894735 [T/C] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL EXON Missense_Y208H,Missense_Y186H,Missense_Y263H rs1256328 1 21896767 [T/C] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL Silent,Silent,Silent exm28147 1 21896819 [T/C] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL EXON Missense_R217C,Missense_R195C,Missense_R272C exm28148 1 21896823 [T/C] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL EXON Missense_T218M,Missense_T196M,Missense_T273M exm28158 1 21900176 [A/C] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL EXON Missense_D239A,Missense_D217A,Missense_D294A exm28184 1 21903947 [A/G] NM_001127501,NM_001177520,NM_000478 ALPL,ALPL,ALPL EXON Missense_V406I,Missense_V384I,Missense_V461I rs1256279 1 21914362 [T/C] rs829391 1 21921058 [A/G] rs7515386 1 21921736 [A/G] exm28202 1 21924217 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_C663Y,Missense_C681Y,Missense_C727Y exm28209 1 21924509 [A/G] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A643V,Missense_A661V,Missense_A707V exm28213 1 21924530 [A/G] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A636V,Missense_A654V,Missense_A700V exm28214 1 21924531 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A636T,Missense_A654T,Missense_A700T exm28215 1 21924545 [A/G] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_S631L,Silent,Missense_S695L exm28218 1 21924946 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_Y609C,Missense_Y635C,Missense_Y673C exm28220 1 21924961 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_R604Q,Missense_R630Q,Missense_R668Q rs10917023 1 21925603 [A/G] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent exm28225 1 21926031 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_V578M,Missense_V604M,Missense_V642M exm28227 1 21926063 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_R567H,Missense_R593H,Missense_R631H exm28232 1 21926097 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A556T,Missense_A582T,Missense_A620T exm28233 1 21926100 [A/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A555S,Missense_A581S,Missense_A619S exm28267 1 21932618 [T/G] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_T457P,Missense_T457P,Missense_T521P exm28277 1 21934818 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_E395G,Missense_E395G,Missense_E459G exm28301 1 21938009 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_R260H,Missense_R260H,Missense_R324H var_1_21938209 1 21938209 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_G238E,Missense_G238E,Missense_G302E exm28306 1 21938261 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_V221M,Missense_V221M,Missense_V285M variant.1540 1 21938304 [A/G] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Synonymous_S206S,Synonymous_S206S,Synonymous_S270S exm28316 1 21938562 [G/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_S190T,Missense_S190T,Missense_S254T exm28317 1 21938584 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_T183A,Missense_T183A,Missense_T247A rs2275363 1 21940555 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A107T,Missense_A107T,Missense_A171T exm28334 1 21940555 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_A107T,Missense_A107T,Missense_A171T exm28337 1 21943804 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Missense_G96S,Missense_G96S,Missense_G160S var_1_21946503 1 21946503 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent rs829406 1 21949462 [A/G] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent rs7354914 1 21953287 [A/G] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent rs829412 1 21953436 [A/G] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent rs11591167 1 21958536 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent rs12142081 1 21966833 [T/G] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent rs6426721 1 21972480 [A/G] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent rs2128699 1 21974208 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP Silent,Silent,Silent exm28371 1 21976289 [T/C] NM_002885,NM_001145657,NM_001145658 RAP1GAP,RAP1GAP,RAP1GAP EXON Silent,Silent,Synonymous_G15G rs829404 1 21983611 [T/C] NM_002885,NM_001145657 RAP1GAP,RAP1GAP Silent,Silent rs829373 1 21988563 [T/C] NM_002885,NM_001145657 RAP1GAP,RAP1GAP Silent,Silent rs3738091 1 21997282 [A/G] rs3818942 1 22000026 [A/G] rs12404648 1 22008798 [T/C] NM_032236 USP48 Silent rs10493008 1 22013771 [A/G] NM_032236 USP48 Silent rs3767133 1 22020152 [T/G] NM_032236 USP48 Silent exm28409 1 22028029 [A/C] NM_032236 USP48 EXON Missense_A897S variant.1547 1 22030755 [T/C] NM_032236 USP48 EXON Missense_K839E exm28422 1 22030875 [A/T] NM_032236 USP48 EXON Missense_I799L exm28423 1 22030884 [T/C] NM_032236 USP48 EXON Missense_I796V rs333171 1 22033705 [T/C] NM_032236 USP48 Silent rs333188 1 22040294 [T/C] NM_032236 USP48 Silent exm28443 1 22041883 [A/G] NM_032236 USP48 EXON Synonymous_H654H rs10799708 1 22046558 [A/C] NM_032236 USP48 Silent exm28448 1 22047655 [T/C] NM_032236 USP48 EXON Missense_D590N rs12030578 1 22048664 [T/C] NM_032236 USP48 Silent rs6426724 1 22049667 [A/G] NM_032236 USP48 Silent 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 variant.1549 1 22074689 [A/G] NM_032236,NM_001032730 USP48,USP48 EXON Nonsense_R284X,Nonsense_R284X rs2315931 1 22076705 [A/G] NM_032236,NM_001032730 USP48,USP48 Silent,Silent 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 rs7518006 1 22127992 [A/G] 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 rs2010397 1 22141983 [T/C] NM_001013693 LDLRAD2 Silent exm28515 1 22142456 [T/C] NM_001013693 LDLRAD2 EXON Missense_R178C exm28520 1 22142525 [A/G] NM_001013693 LDLRAD2 EXON Missense_D201N variant.1553 1 22147942 [T/G] NM_001013693 LDLRAD2 Silent 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 rs2229493 1 22160043 [T/C] NM_005529 HSPG2 EXON Missense_R3632Q exm28706 1 22160043 [T/C] NM_005529 HSPG2 EXON Missense_R3632Q rs7547731 1 22160148 [T/C] NM_005529 HSPG2 Silent indel.1559 1 22160419 [I/D] NM_005529 HSPG2 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 exm1763262 1 22163446 [C/G] NM_005529 HSPG2 EXON Missense_V3402L exm2277027 1 22163446 [T/C] NM_005529 HSPG2 EXON Missense_V3402M 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 rs3767138 1 22174600 [A/G] NM_005529 HSPG2 Silent 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 rs2290500 1 22176831 [T/C] NM_005529 HSPG2 Silent 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 rs2254358 1 22216574 [A/C] NM_005529 HSPG2 EXON Synonymous_G158G 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 rs11810496 1 22224102 [A/G] NM_005529 HSPG2 Silent rs16826031 1 22231446 [T/G] NM_005529 HSPG2 Silent rs1545593 1 22233670 [T/G] NM_005529 HSPG2 Silent exm2260014 1 22252262 [A/G] NM_005529 HSPG2 Silent rs9426790 1 22252790 [A/G] NM_005529 HSPG2 Silent rs7544500 1 22271839 [T/C] rs7531732 1 22275696 [A/G] rs10917074 1 22281759 [A/G] rs11589754 1 22284495 [T/G] rs10917079 1 22296307 [A/C] exm1763880 1 22304879 [T/C] NM_007352 CELA3B EXON Missense_P21S exm29496 1 22304889 [A/G] NM_007352 CELA3B EXON Missense_R24H exm29516 1 22307538 [T/C] NM_007352 CELA3B EXON Missense_R79W exm29521 1 22307582 [T/G] NM_007352 CELA3B EXON Missense_K93N rs7553024 1 22308178 [A/G] NM_007352 CELA3B Silent rs12049408 1 22308704 [A/G] NM_007352 CELA3B Silent rs10799723 1 22310080 [A/G] NM_007352 CELA3B Silent exm29555 1 22310711 [G/C] NM_007352 CELA3B EXON Missense_E177Q exm29579 1 22313075 [G/C] NM_007352 CELA3B EXON Missense_V232L rs12405048 1 22321550 [A/G] 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 rs9187 1 22336305 [T/C] NM_005747 CELA3A EXON Synonymous_P250P rs3117048 1 22345093 [A/G] rs2473295 1 22354866 [T/C] NR_023918,NR_023919 LINC00339,LINC00339 Silent,Silent rs2473277 1 22361845 [A/G] exm2268660 1 22368342 [T/C] rs2501276 1 22373624 [T/C] rs11800014 1 22414070 [T/C] NM_001039802,NM_044472,NM_001791 CDC42,CDC42,CDC42 Silent,Silent,Silent rs1534949 1 22426187 [A/C] rs10489437 1 22432587 [T/C] rs4654783 1 22439520 [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 rs2235529 1 22450487 [T/C] NM_030761 WNT4 Silent rs7526484 1 22451845 [T/C] NM_030761 WNT4 Silent rs7544210 1 22455142 [A/G] NM_030761 WNT4 Silent exm29771 1 22456184 [A/G] NM_030761 WNT4 EXON Missense_Y80H rs7542242 1 22477493 [T/C] exm-rs16826658 1 22485871 [T/G] exm-rs7521902 1 22490724 [A/C] rs17360017 1 22495215 [A/G] rs10917165 1 22501628 [T/C] rs742356 1 22501846 [A/G] rs2744708 1 22506851 [A/G] rs2744712 1 22509251 [A/G] rs12734979 1 22522927 [T/C] rs732376 1 22530214 [T/C] rs2807348 1 22533106 [A/G] exm2250809 1 22537071 [T/C] rs2473250 1 22537649 [A/G] rs2505722 1 22542445 [T/G] rs2744734 1 22549729 [T/C] rs2505711 1 22551925 [A/G] rs12749135 1 22553478 [T/G] rs2491210 1 22555993 [T/G] rs932371 1 22569226 [T/C] rs10489160 1 22573259 [A/G] rs909814 1 22573942 [T/C] rs2744750 1 22574426 [A/G] rs2807338 1 22577425 [T/C] rs3845519 1 22585236 [A/G] rs4654790 1 22588355 [A/G] rs2143100 1 22599878 [T/C] rs12406679 1 22602254 [A/G] rs760915 1 22603552 [A/G] rs12737805 1 22612690 [A/G] rs10799746 1 22625246 [A/C] rs6426746 1 22629057 [A/G] rs6690148 1 22648411 [T/C] rs12137132 1 22653884 [T/C] rs4655044 1 22659375 [T/C] rs10917219 1 22674370 [T/C] rs4655052 1 22688484 [A/G] rs6682619 1 22690923 [T/G] exm-rs7524102 1 22698447 [A/G] rs6696981 1 22702858 [T/G] exm-rs6696981 1 22702858 [T/G] rs6684375 1 22706434 [T/C] exm-rs6426749 1 22711473 [G/C] rs6704135 1 22718261 [T/C] rs6426752 1 22718991 [A/G] rs6667212 1 22722694 [A/G] rs2185341 1 22725825 [T/C] rs7543680 1 22731269 [A/G] rs4655059 1 22735906 [A/C] rs12145722 1 22742985 [T/C] rs4515757 1 22744686 [T/C] rs7530165 1 22760325 [A/G] rs1890775 1 22774266 [T/C] exm-rs10917234 1 22782602 [A/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 Silent,Silent rs10493014 1 22787711 [A/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 Silent,Silent rs4369203 1 22795459 [A/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 Silent,Silent variant.1593 1 22816505 [T/C] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Nonsense_Q22X,Nonsense_Q22X 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 indel.1595 1 22834628 [D/I] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON 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 variant.1598 1 22838632 [A/G] NM_001083621,NM_014870 ZBTB40,ZBTB40 Silent,Silent 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 rs12137696 1 22855441 [T/C] NM_001083621,NM_014870 ZBTB40,ZBTB40 EXON Silent,Silent rs12756490 1 22863680 [T/C] rs766910 1 22872687 [A/C] exm29921 1 22895820 [A/G] NM_001006943,NM_020526 EPHA8,EPHA8 EXON Missense_G45S,Missense_G45S rs209741 1 22899011 [T/C] NM_001006943,NM_020526 EPHA8,EPHA8 Silent,Silent exm2232712 1 22902710 [T/G] NM_001006943,NM_020526 EPHA8,EPHA8 EXON Missense_W54G,Missense_W54G exm2232713 1 22903034 [T/C] NM_001006943,NM_020526 EPHA8,EPHA8 EXON Missense_R162W,Missense_R162W exm29948 1 22903176 [A/G] NM_001006943,NM_020526 EPHA8,EPHA8 EXON Missense_R209H,Missense_R209H exm29956 1 22903356 [A/G] NM_001006943,NM_020526 EPHA8,EPHA8 EXON Missense_R269Q,Missense_R269Q rs649754 1 22906247 [A/C] NM_001006943,NM_020526 EPHA8,EPHA8 Silent,Silent exm29963 1 22913051 [T/C] NM_001006943,NM_020526 EPHA8,EPHA8 EXON Missense_A301V,Missense_A301V exm29964 1 22913111 [T/C] NM_001006943,NM_020526 EPHA8,EPHA8 EXON Missense_P321L,Missense_P321L exm29974 1 22915508 [A/G] NM_001006943,NM_020526 EPHA8,EPHA8 EXON Missense_R375H,Missense_R375H exm29980 1 22915678 [A/G] NM_001006943,NM_020526 EPHA8,EPHA8 EXON Missense_N432D,Missense_N432D exm29984 1 22915721 [T/C] NM_001006943,NM_020526 EPHA8,EPHA8 EXON Missense_P446L,Silent exm29987 1 22915753 [T/C] NM_001006943,NM_020526 EPHA8,EPHA8 EXON Missense_S457P,Silent exm29990 1 22915816 [T/C] NM_001006943,NM_020526 EPHA8,EPHA8 EXON Missense_L478F,Silent exm29993 1 22915858 [T/C] NM_001006943,NM_020526 EPHA8,EPHA8 EXON Missense_L492F,Silent exm30009 1 22920141 [A/G] NM_020526 EPHA8 EXON Missense_R522H exm30010 1 22920150 [A/G] NM_020526 EPHA8 EXON Missense_Q525R rs209694 1 22921503 [T/C] NM_020526 EPHA8 Silent 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 rs209705 1 22934644 [A/G] rs209704 1 22936072 [A/G] rs12128546 1 22937094 [T/G] rs158762 1 22952823 [A/G] rs665691 1 22960354 [G/C] 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 rs172378 1 22965438 [A/G] NM_015991 C1QA EXON Synonymous_G92G 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_172369,NM_001114101 C1QC,C1QC EXON Missense_G34R,Missense_G34R rs294185 1 22971892 [A/G] NM_172369,NM_001114101 C1QC,C1QC Silent,Silent exm30177 1 22973770 [T/C] NM_172369,NM_001114101 C1QC,C1QC EXON Missense_P78S,Missense_P78S exm30193 1 22973962 [A/G] NM_172369,NM_001114101 C1QC,C1QC EXON Missense_A142T,Missense_A142T exm30203 1 22974097 [A/G] NM_172369,NM_001114101 C1QC,C1QC EXON Missense_V187I,Missense_V187I rs294179 1 22974928 [T/C] rs12734877 1 22977883 [A/C] rs12754182 1 22978268 [T/C] rs17433222 1 22978646 [A/G] rs12756603 1 22981876 [A/G] NM_000491 C1QB Silent rs623183 1 22986631 [A/G] NM_000491 C1QB Silent 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 rs292010 1 22989745 [T/C] rs17486657 1 23007175 [T/C] rs294214 1 23026293 [T/C] rs2869513 1 23045943 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent rs4655093 1 23055360 [T/G] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent rs10917284 1 23062908 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent rs6426763 1 23068761 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent rs6698922 1 23073167 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent rs4655100 1 23082002 [T/G] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent rs10753544 1 23091273 [T/C] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent rs2817909 1 23106213 [T/C] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent exm30269 1 23107943 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 EXON Missense_A31T,Missense_A31T exm30274 1 23110997 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 EXON Missense_R80H,Missense_R80H exm30286 1 23111354 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 EXON Missense_R199H,Missense_R199H rs2817896 1 23116049 [T/C] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent rs10799764 1 23117460 [T/C] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent rs4655110 1 23122280 [T/C] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent rs10465543 1 23134218 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent rs2869511 1 23140700 [T/C] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent rs4390147 1 23145603 [T/C] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent rs10917312 1 23152969 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent rs4600017 1 23158223 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent exm2268662 1 23168961 [T/C] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent rs11800828 1 23171706 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent exm30301 1 23189553 [T/G] NM_017449,NM_004442 EPHB2,EPHB2 EXON Missense_A279S,Missense_A279S exm30302 1 23189565 [G/C] NM_017449,NM_004442 EPHB2,EPHB2 EXON Missense_D283H,Missense_D283H exm30316 1 23191483 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 EXON Missense_I361V,Missense_I361V exm30317 1 23191502 [T/C] NM_017449,NM_004442 EPHB2,EPHB2 EXON Missense_S367L,Missense_S367L exm30319 1 23191508 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 EXON Missense_R369Q,Missense_R369Q exm2268870 1 23198619 [T/G] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent rs4655134 1 23198619 [T/G] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent rs11807221 1 23207135 [T/C] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent exm30333 1 23208887 [T/C] NM_017449,NM_004442 EPHB2,EPHB2 EXON Missense_R447C,Missense_R447C rs309476 1 23212740 [T/G] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent variant.1611 1 23219372 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent exm30340 1 23219377 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 EXON Missense_E477K,Missense_E477K exm30343 1 23219431 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 EXON Missense_V495M,Missense_V495M exm30355 1 23222908 [T/C] NM_017449,NM_004442 EPHB2,EPHB2 EXON Missense_R568W,Missense_R569W rs2675494 1 23227166 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent exm1768105 1 23232567 [A/T] NM_017449,NM_004442 EPHB2,EPHB2 EXON Missense_I618N,Missense_I619N exm30372 1 23233263 [T/C] NM_017449,NM_004442 EPHB2,EPHB2 EXON Missense_V650A,Missense_V651A rs309500 1 23233600 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 Silent,Silent exm30382 1 23234569 [A/G] NM_017449,NM_004442 EPHB2,EPHB2 EXON Missense_V754I,Missense_V755I exm2273319 1 23240250 [T/A] NM_017449,NM_004442 EPHB2,EPHB2 EXON Silent,Silent rs7553678 1 23259167 [A/G] rs722993 1 23267090 [A/G] rs309539 1 23274948 [T/C] rs620514 1 23278632 [A/G] rs7543064 1 23288580 [T/G] rs6426775 1 23288828 [A/G] rs10799776 1 23289397 [A/G] rs648322 1 23294839 [A/G] rs4655141 1 23312025 [T/C] exm2250884 1 23380259 [A/G] NM_015013,NM_001009999 KDM1A,KDM1A EXON Synonymous_Q219Q,Synonymous_Q239Q variant.1615 1 23397857 [A/G] NM_015013,NM_001009999 KDM1A,KDM1A Silent,Silent variant.1616 1 23408021 [A/C] NM_015013,NM_001009999 KDM1A,KDM1A EXON Nonsense_C727X,Nonsense_C751X rs683893 1 23415102 [T/C] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Silent,Silent 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 rs477717 1 23419261 [A/G] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Synonymous_S498S,Synonymous_S498S 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 rs3765407 1 23419374 [T/G] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Missense_Q461K,Missense_Q461K 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 rs1208932 1 23429122 [T/G] NM_001142546,NM_033631 LUZP1,LUZP1 Silent,Silent rs765803 1 23431777 [T/G] NM_001142546,NM_033631 LUZP1,LUZP1 Silent,Silent rs16827981 1 23435538 [A/G] NM_001142546,NM_033631 LUZP1,LUZP1 EXON Silent,Silent rs3845521 1 23472341 [T/C] NM_001142546,NM_033631 LUZP1,LUZP1 Silent,Silent rs643492 1 23501354 [T/C] rs641032 1 23513980 [A/G] exm30636 1 23519593 [A/G] NM_000864 HTR1D EXON Missense_R374W indel.1622 1 23519612 [I/D] NM_000864 HTR1D EXON 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] rs627304 1 23537555 [T/C] exm2268663 1 23537555 [T/C] rs10917360 1 23539010 [A/G] rs10917362 1 23547194 [T/C] rs1740482 1 23565599 [T/C] exm-rs2749146 1 23582880 [T/C] rs9658850 1 23587590 [A/G] rs2749158 1 23618460 [A/G] rs655600 1 23631625 [A/G] exm30701 1 23637261 [T/A] NM_001102397,NM_005826,NM_001102398,NM_001102399 HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Missense_S429T,Missense_S530T,Missense_S533T,Missense_S432T exm30708 1 23637513 [T/C] NM_001102397,NM_005826,NM_001102398,NM_001102399 HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Missense_I345V,Missense_I446V,Missense_I449V,Missense_I348V exm30722 1 23648027 [T/C] NM_001102397,NM_005826,NM_001102398,NM_001102399 HNRNPR,HNRNPR,HNRNPR,HNRNPR EXON Missense_V168I,Missense_V269I,Missense_V269I,Missense_V168I rs2103911 1 23667751 [A/C] NM_001102397,NM_005826,NM_001102398,NM_001102399 HNRNPR,HNRNPR,HNRNPR,HNRNPR Silent,Silent,Silent,Silent rs644749 1 23687827 [T/C] NM_001077195,NM_030634 ZNF436,ZNF436 EXON Silent,Silent rs646193 1 23688178 [A/G] NM_001077195,NM_030634 ZNF436,ZNF436 EXON Silent,Silent exm30746 1 23688470 [T/C] NM_001077195,NM_030634 ZNF436,ZNF436 EXON Missense_T469A,Missense_T469A indel.1627 1 23688514 [D/I] NM_001077195,NM_030634 ZNF436,ZNF436 EXON indel.1628 1 23688635 [I/D] NM_001077195,NM_030634 ZNF436,ZNF436 EXON rs2849028 1 23688933 [A/G] NM_001077195,NM_030634 ZNF436,ZNF436 EXON Synonymous_N314N,Synonymous_N314N 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 newrs187125393 1 23696092 [A/C] NM_001077195,NR_033690,NR_033691 ZNF436,C1orf213,C1orf213 EXON Silent,Silent,Silent rs9887921 1 23700811 [T/C] rs2092933 1 23711376 [T/C] NM_003196 TCEA3 Silent rs1212034 1 23714665 [T/C] NM_003196 TCEA3 Silent exm30827 1 23720422 [T/C] NM_003196 TCEA3 EXON Missense_V257M indel.1632 1 23720492 [D/I] NM_003196 TCEA3 EXON rs7516962 1 23723935 [A/G] NM_003196 TCEA3 Silent exm2260051 1 23731819 [A/G] NM_003196 TCEA3 Silent 1KG_1_23735172 1 23735172 [I/D] NM_003196 TCEA3 EXON rs1787646 1 23742152 [T/C] 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 variant.1633 1 23743761 [A/G] NM_003196 TCEA3 EXON Nonsense_R121X exm30848 1 23743767 [A/T] NM_003196 TCEA3 EXON Nonsense_K119X variant.1635 1 23743812 [A/C] NM_003196 TCEA3 EXON Nonsense_E104X 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_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_X895W,Missense_X904W exm30868 1 23756359 [A/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_L892S,Missense_L901S exm30870 1 23756377 [T/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_A886E,Missense_A895E exm30871 1 23756417 [T/C] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_I873V,Missense_I882V rs1198433 1 23756695 [A/G] NM_001143778,NM_017707 ASAP3,ASAP3 Silent,Silent exm30873 1 23757529 [A/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_P870L,Missense_P879L exm30878 1 23757593 [A/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_R849W,Missense_R858W exm30880 1 23757596 [A/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_R848W,Missense_R857W exm30887 1 23758267 [T/C] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_R814Q,Missense_R823Q exm30898 1 23759594 [T/C] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_G758R,Missense_G767R exm30899 1 23759609 [A/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_R753W,Missense_R762W exm30902 1 23759654 [T/C] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_E738K,Missense_E747K exm1769822 1 23759714 [C/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_D718H,Missense_D727H exm30904 1 23759743 [T/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_A708D,Missense_A717D exm1769825 1 23760011 [G/C] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_Q669H,Missense_Q678H exm30909 1 23760013 [T/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_Q669K,Missense_Q678K exm30910 1 23760133 [T/C] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_E660K,Missense_E669K exm30911 1 23760157 [T/C] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_I652V,Missense_I661V exm30924 1 23761026 [C/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_G603A,Missense_G612A exm30925 1 23761027 [T/C] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_G603S,Missense_G612S newrs147652133 1 23761066 [A/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Nonsense_Q590X,Nonsense_Q599X exm30931 1 23761077 [T/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_K586T,Missense_K595T exm30941 1 23762428 [A/C] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_I546M,Missense_I555M exm30955 1 23763676 [A/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_A421V,Missense_A430V exm30959 1 23763767 [T/C] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_A391T,Missense_A400T exm30961 1 23763938 [T/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_E368A,Missense_E377A exm30962 1 23765240 [A/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_H359Y,Missense_H368Y rs1621803 1 23765911 [T/C] NM_001143778,NM_017707 ASAP3,ASAP3 Silent,Silent exm-rs1077514 1 23766233 [T/C] NM_001143778,NM_017707 ASAP3,ASAP3 Silent,Silent exm30981 1 23767921 [A/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_R256W,Missense_R265W exm30983 1 23768174 [T/C] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_E232K,Missense_E241K exm30987 1 23768696 [T/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_F209L,Missense_F218L exm30990 1 23768748 [T/C] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_G192E,Missense_G201E exm30994 1 23769004 [T/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_H183P,Missense_H192P rs2077066 1 23778362 [T/C] NM_001143778,NM_017707 ASAP3,ASAP3 Silent,Silent exm31000 1 23779190 [T/C] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Synonymous_Q141Q,Synonymous_Q141Q exm31007 1 23779253 [C/G] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_L120F,Missense_L120F exm31017 1 23782519 [T/C] NM_001143778,NM_017707 ASAP3,ASAP3 EXON Missense_G68D,Missense_G68D rs7522616 1 23794914 [A/G] NM_001143778,NM_017707 ASAP3,ASAP3 Silent,Silent exm31029 1 23836407 [T/C] NM_004091 E2F2 EXON Missense_D427N exm31032 1 23836478 [A/C] NM_004091 E2F2 EXON Missense_F403C rs2282720 1 23839769 [A/G] NM_004091 E2F2 Silent exm31044 1 23842860 [T/C] NM_004091 E2F2 EXON Missense_D338N exm31047 1 23842939 [T/G] NM_004091 E2F2 EXON Missense_D311E rs3218177 1 23845288 [A/G] NM_004091 E2F2 Silent exm31052 1 23845566 [A/G] NM_004091 E2F2 EXON Missense_T265I newrs145585855 1 23845623 [A/G] NM_004091 E2F2 Silent 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 rs2038027 1 23848042 [A/G] NM_004091 E2F2 Silent 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 rs1050096 1 23884661 [A/G] NM_002167 ID3 EXON Silent rs2920 1 23884780 [T/C] NM_002167 ID3 EXON Silent 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 rs2811946 1 23902416 [A/C] rs10917395 1 23904345 [A/G] variant.1653 1 23919307 [T/G] rs4649100 1 23927929 [T/C] rs2811986 1 23937567 [A/G] rs6677615 1 23942802 [A/G] rs4649102 1 23943905 [A/G] rs2864884 1 23945443 [T/C] exm2268664 1 23945443 [T/C] rs2811956 1 23957318 [A/G] NR_027042 MDS2 Silent rs10917404 1 23965829 [T/C] NR_027042 MDS2 Silent rs6684096 1 23985309 [A/G] rs7515510 1 23988361 [A/G] rs7549155 1 23994072 [A/G] rs3753270 1 24018224 [T/C] rs2280437 1 24022437 [A/G] NM_000975,NM_001199802 RPL11,RPL11 Silent,Silent exm31220 1 24022915 [A/G] NM_000975,NM_001199802 RPL11,RPL11 EXON Silent,Silent rs561733 1 24049595 [T/G] rs10917420 1 24062987 [T/C] 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 rs7514394 1 24100223 [T/C] NR_038280 LOC100506963 Silent exm31357 1 24112236 [A/G] NM_020362 PITHD1 EXON Missense_R131Q exm31426 1 24122673 [T/C] NM_000403,NM_001127621,NM_001008216 GALE,GALE,GALE EXON Missense_G319E,Missense_G319E,Missense_G319E exm31445 1 24123212 [T/C] NM_000403,NM_001127621,NM_001008216 GALE,GALE,GALE EXON Missense_K257R,Missense_K257R,Missense_K257R exm31460 1 24123555 [A/G] NM_000403,NM_001127621,NM_001008216 GALE,GALE,GALE EXON Missense_I204T,Missense_I204T,Missense_I204T exm31480 1 24124692 [A/G] NM_000403,NM_001127621,NM_001008216 GALE,GALE,GALE EXON Missense_A89V,Missense_A89V,Missense_A89V exm31484 1 24125170 [A/G] NM_000403,NM_001127621,NM_001008216 GALE,GALE,GALE EXON Missense_R58C,Missense_R58C,Missense_R58C exm31487 1 24125380 [A/G] NM_000403,NM_001127621,NM_001008216 GALE,GALE,GALE EXON Missense_R40C,Missense_R40C,Missense_R40C exm31525 1 24140734 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_Q148R,Silent exm1770777 1 24143165 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Synonymous_A116A,Synonymous_A116A newrs189198317 1 24143165 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Synonymous_A116A,Synonymous_A116A exm1770778 1 24143173 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_E114K,Missense_E114K exm2232878 1 24143974 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_V82I,Missense_V82I exm31533 1 24144036 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_D61G,Missense_D61G exm31534 1 24144067 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Missense_V51I,Missense_V51I rs2502979 1 24149315 [A/C] NM_000191,NM_001166059 HMGCL,HMGCL Silent,Silent exm2250937 1 24151858 [T/C] NM_000191,NM_001166059 HMGCL,HMGCL EXON Synonymous_A16A,Synonymous_A16A rs10917430 1 24170458 [T/C] 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 indel.1673 1 24175236 [D/I] NM_000147 FUCA1 EXON exm31570 1 24180962 [T/C] NM_000147 FUCA1 EXON Missense_Q286R var_1_24180963 1 24180963 [A/G] NM_000147 FUCA1 EXON Nonsense_Q286X exm31573 1 24181041 [T/C] NM_000147 FUCA1 EXON Missense_V260I variant.1675 1 24186283 [T/C] NM_000147 FUCA1 Silent 1KG_1_24189631 1 24189631 [I/D] NM_000147 FUCA1 EXON 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 rs3003329 1 24193875 [T/C] NM_000147 FUCA1 Silent exm31606 1 24194773 [A/G] NM_000147 FUCA1 EXON Missense_R2W var_1_24201027 1 24201028 [D/I] NM_001841 CNR2 EXON 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 rs2501431 1 24201643 [A/G] NM_001841 CNR2 EXON Synonymous_G155G 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 rs4625225 1 24209971 [T/C] NM_001841 CNR2 Silent rs9424398 1 24221834 [T/G] NM_001841 CNR2 Silent kgp1774784 1 24221935 [A/G] NM_001841 CNR2 Silent kgp2196568 1 24231016 [A/G] NM_001841 CNR2 Silent rs12401982 1 24372971 [T/C] rs11586125 1 24377326 [T/C] rs4649163 1 24379601 [T/C] 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 rs6693386 1 24385330 [T/C] NM_152372 MYOM3 Silent rs7549149 1 24385997 [T/G] NM_152372 MYOM3 Silent rs11811060 1 24388417 [A/G] NM_152372 MYOM3 Silent 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 var_1_24389611 1 24389611 [T/C] NM_152372 MYOM3 Silent indel.1682 1 24389632 [I/D] NM_152372 MYOM3 EXON 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 var_1_24390612 1 24390613 [D/I] NM_152372 MYOM3 EXON rs4456048 1 24392063 [T/C] NM_152372 MYOM3 Silent exm31758 1 24393563 [T/C] NM_152372 MYOM3 EXON Missense_R1124Q exm31759 1 24393564 [A/G] NM_152372 MYOM3 EXON Missense_R1124W variant.1688 1 24394459 [T/C] NM_152372 MYOM3 Silent 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 rs6656699 1 24396500 [T/C] NM_152372 MYOM3 Silent exm31776 1 24397636 [A/G] NM_152372 MYOM3 EXON Missense_F1041L exm31783 1 24400656 [T/C] NM_152372 MYOM3 EXON Missense_E988K variant.1690 1 24401840 [A/G] NM_152372 MYOM3 EXON Nonsense_Q943X 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 rs4649175 1 24406647 [A/G] NM_152372 MYOM3 EXON Synonymous_A815A 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 rs4313343 1 24408414 [T/C] NM_152372 MYOM3 Silent 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 variant.1696 1 24411085 [A/G] NM_152372 MYOM3 EXON Nonsense_Q615X indel.1697 1 24411115 [I/D] NM_152372 MYOM3 EXON rs4276861 1 24412447 [T/C] NM_152372 MYOM3 Silent rs4649183 1 24415723 [T/G] NM_152372 MYOM3 Silent 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 newrs187599846 1 24416550 [T/C] NM_152372 MYOM3 Silent 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 rs7556176 1 24418768 [T/C] NM_152372 MYOM3 EXON Synonymous_P376P 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 rs3885698 1 24424241 [T/C] NM_152372 MYOM3 Silent 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 rs11249170 1 24434595 [T/C] NM_152372 MYOM3 Silent rs6686007 1 24442907 [T/C] 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 rs11578307 1 24452763 [A/G] NM_021258 IL22RA1 Silent exm32081 1 24454636 [A/G] NM_021258 IL22RA1 EXON Missense_L222P exm32083 1 24454676 [A/C] NM_021258 IL22RA1 EXON Missense_A209S rs16829204 1 24454688 [T/C] NM_021258 IL22RA1 EXON Missense_V205I 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 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 rs10794642 1 24465309 [T/C] NM_021258 IL22RA1 Silent rs4448470 1 24471200 [T/C] rs4648940 1 24475177 [T/C] rs4649191 1 24479274 [T/C] exm32136 1 24483832 [A/G] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 EXON Missense_W451R,Missense_W422R,Silent exm32146 1 24484108 [A/G] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 EXON Missense_H359Y,Missense_H330Y,Silent exm32148 1 24484171 [T/C] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 EXON Missense_V338I,Missense_V309I,Silent exm32149 1 24484195 [T/C] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 EXON Missense_D330N,Missense_D301N,Silent exm32152 1 24484220 [T/G] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 EXON Missense_D321E,Missense_D292E,Silent exm32154 1 24484269 [A/G] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 EXON Missense_T305M,Missense_T276M,Silent exm32157 1 24484365 [A/G] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 EXON Missense_T273I,Silent,Synonymous_H229H exm32161 1 24485564 [T/C] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 EXON Missense_R260Q,Missense_R260Q,Silent rs4649195 1 24485941 [T/C] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent exm32177 1 24488093 [G/C] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 EXON Missense_C150S,Missense_C150S,Missense_C150S rs7552086 1 24488450 [A/G] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent exm2250960 1 24495968 [A/C] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 EXON Synonymous_T102T,Synonymous_T102T,Synonymous_T102T exm32185 1 24495990 [T/C] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 EXON Missense_K95R,Missense_K95R,Missense_K95R exm32187 1 24496050 [A/G] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 EXON Missense_A75V,Missense_A75V,Missense_A75V rs7520329 1 24498911 [A/C] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent rs3893318 1 24505944 [T/G] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent rs3897440 1 24506861 [T/C] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent rs7524076 1 24508710 [A/G] NM_170743,NM_173064,NM_173065 IFNLR1,IFNLR1,IFNLR1 Silent,Silent,Silent rs7552167 1 24518643 [A/G] exm-rs4649203 1 24519920 [A/G] exm-rs11249024 1 24527095 [T/C] NR_027087 LOC284632 Silent rs946662 1 24531634 [A/C] NR_027087 LOC284632 Silent rs11249045 1 24557760 [T/C] exm2264809 1 24564127 [A/G] rs12131684 1 24567435 [T/C] rs11249058 1 24583452 [A/G] rs6670533 1 24584490 [A/G] rs12063430 1 24604438 [T/C] rs7535789 1 24607419 [T/C] rs4648960 1 24618605 [T/G] rs4648967 1 24624870 [A/G] rs4641259 1 24625549 [T/G] rs672511 1 24636835 [T/C] rs621535 1 24640314 [A/G] rs2248219 1 24645356 [A/G] rs2486669 1 24657860 [A/G] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent exm32205 1 24657930 [A/G] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R11Q,Missense_R11Q,Silent,Missense_R16Q exm32214 1 24658063 [C/G] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_D55E,Missense_D55E,Missense_D9E,Missense_D60E exm32229 1 24663150 [T/C] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_P149S,Missense_P149S,Missense_P103S,Missense_P154S exm32232 1 24663184 [T/C] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_V160A,Missense_V160A,Missense_V114A,Missense_V165A exm32237 1 24663265 [T/C] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_P187L,Missense_P187L,Missense_P141L,Missense_P192L exm32238 1 24663277 [A/G] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R191H,Missense_R191H,Missense_R145H,Missense_R196H exm32242 1 24663569 [T/C] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_S205L,Missense_S205L,Missense_S159L,Missense_S210L exm32253 1 24664220 [A/G] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_V261I,Missense_V261I,Missense_V215I,Missense_V266I exm32254 1 24664239 [G/C] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_A267G,Missense_A267G,Missense_A221G,Missense_A272G exm32273 1 24668716 [T/C] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R387C,Missense_R387C,Missense_R341C,Missense_R392C exm32288 1 24669457 [T/C] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_T454M,Missense_T454M,Missense_T408M,Missense_T459M exm32291 1 24669481 [A/G] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_N462S,Missense_N462S,Missense_N416S,Missense_N467S exm32293 1 24669515 [A/G] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Synonymous_G473G,Synonymous_G473G,Synonymous_G427G,Synonymous_G478G rs4648975 1 24670264 [A/G] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 Silent,Silent,Silent,Silent exm32295 1 24671397 [T/C] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_S477L,Missense_S477L,Missense_S431L,Missense_S482L exm32297 1 24671406 [A/C] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_P480H,Missense_P480H,Missense_P434H,Missense_P485H exm32299 1 24671418 [A/G] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_N484S,Missense_N484S,Missense_N438S,Missense_N489S exm32304 1 24673057 [A/G] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_R490H,Missense_R490H,Missense_R444H,Missense_R495H exm32307 1 24673119 [A/G] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Missense_D511N,Missense_D511N,Missense_D465N,Missense_D516N exm32310 1 24680910 [T/C] NM_198174,NM_198173,NM_001195010,NM_021180 GRHL3,GRHL3,GRHL3,GRHL3 EXON Silent,Missense_H581Y,Missense_H535Y,Missense_H586Y rs7527465 1 24684116 [A/G] NM_198174,NM_178122,NM_001199012,NM_001199013,NM_001199014 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Silent,Silent,Silent,Silent var_1_24685063 1 24685063 [A/G] NM_198174,NM_178122,NM_001199012,NM_001199013,NM_001199014 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Synonymous_N278N,Synonymous_N325N,Synonymous_N325N,Synonymous_N233N exm32319 1 24687343 [C/G] NM_198174,NM_178122,NM_001199012,NM_001199013,NM_001199014 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Missense_P262R,Missense_P309R,Missense_P309R,Missense_P217R exm32324 1 24687371 [T/C] NM_198174,NM_178122,NM_001199012,NM_001199013,NM_001199014 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Missense_A253T,Missense_A300T,Missense_A300T,Missense_A208T indel.1723 1 24687425 [I/D] NM_198174,NM_178122,NM_001199012,NM_001199013,NM_001199014 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON exm32331 1 24687441 [C/G] NM_198174,NM_178122,NM_001199012,NM_001199013,NM_001199014 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Silent,Missense_D229E,Missense_D276E,Missense_D276E,Missense_D184E 1KG_1_24687454 1 24687455 [I/D] NM_198174,NM_178122,NM_001199012,NM_001199013,NM_001199014 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON exm32334 1 24690676 [A/G] NM_198174,NM_178122,NM_001199012,NM_001199013,NM_001199014 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Missense_E566K,Silent,Silent,Silent,Silent exm32337 1 24690764 [A/T] NM_198174,NM_178122,NM_001199012,NM_001199013,NM_001199014 GRHL3,STPG1,STPG1,STPG1,STPG1 EXON Missense_M595K,Silent,Silent,Silent,Silent rs7535482 1 24695114 [A/C] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent variant.1725 1 24696162 [A/C] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent exm32347 1 24696293 [A/G] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 EXON Missense_S156L,Missense_S203L,Missense_S203L,Missense_S111L newrs149733917 1 24706142 [T/C] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent exm32357 1 24706144 [T/C] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 EXON Missense_N107S,Missense_N154S,Missense_N154S,Missense_N62S exm32364 1 24706274 [T/C] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 EXON Missense_A64T,Missense_A111T,Missense_A111T,Missense_A19T exm32365 1 24706292 [T/C] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 EXON Missense_I58V,Missense_I105V,Missense_I105V,Missense_I13V exm32367 1 24706304 [A/T] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 EXON Missense_L54M,Missense_L101M,Missense_L101M,Missense_L9M variant.1727 1 24706307 [A/G] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 EXON Nonsense_R53X,Nonsense_R100X,Nonsense_R100X,Nonsense_R8X rs3765431 1 24706410 [T/C] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent variant.1728 1 24710352 [T/C] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent exm32374 1 24710405 [A/G] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 EXON Missense_M46T,Missense_M93T,Missense_M93T,Missense_M1T exm32377 1 24710465 [T/C] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 EXON Missense_N26S,Missense_N73S,Missense_N73S,Silent exm32379 1 24710487 [T/C] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 EXON Missense_I19V,Missense_I66V,Missense_I66V,Silent exm2250982 1 24718075 [T/C] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 EXON Silent,Synonymous_Q55Q,Synonymous_Q55Q,Silent exm32381 1 24718079 [A/C] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 EXON Silent,Missense_S54I,Missense_S54I,Silent variant.1729 1 24727815 [T/G] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 EXON Nonsense_Y14X,Missense_Q22K,Missense_Q22K,Silent rs576096 1 24734386 [A/G] NM_178122,NM_001199012,NM_001199013,NM_001199014 STPG1,STPG1,STPG1,STPG1 Silent,Silent,Silent,Silent exm32388 1 24746056 [A/G] NM_020448 NIPAL3 EXON Missense_A7T rs6670829 1 24751920 [A/G] NM_020448 NIPAL3 Silent rs10903086 1 24755281 [A/G] NM_020448 NIPAL3 Silent rs1008485 1 24764689 [T/C] NM_020448 NIPAL3 Silent 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 rs4648988 1 24775000 [T/C] NM_020448 NIPAL3 Silent exm32418 1 24776000 [A/G] NM_020448 NIPAL3 EXON Missense_G142S exm32420 1 24776012 [A/G] NM_020448 NIPAL3 EXON Missense_V146M rs2281188 1 24781247 [T/C] NM_020448 NIPAL3 Silent exm32439 1 24782681 [A/G] NM_020448 NIPAL3 EXON Missense_I231V exm32447 1 24782763 [T/C] NM_020448 NIPAL3 EXON Missense_A258V indel.1732 1 24784312 [D/I] NM_020448 NIPAL3 variant.1733 1 24784323 [A/G] NM_020448 NIPAL3 Silent rs2272935 1 24785393 [T/C] NM_020448 NIPAL3 EXON Synonymous_A263A newrs151305924 1 24785405 [T/C] NM_020448 NIPAL3 EXON Synonymous_Y267Y rs195704 1 24813155 [T/C] rs195712 1 24818499 [T/C] exm2260076 1 24822500 [T/C] rs7540336 1 24832734 [A/G] NM_001251979,NM_001251984,NM_001251977,NM_001251981,NM_001251983,NM_013441 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent exm32472 1 24840882 [A/G] NM_001251979,NM_001251984,NM_001251977,NM_001251981,NM_001251983,NM_013441,NM_001251978,NM_001251985,NM_001251980,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Missense_K7R,Silent,Missense_K7R,Missense_K7R,Silent,Missense_K7R,Missense_K7R,Missense_K7R,Missense_K7R,Missense_K7R variant.1735 1 24841046 [T/C] NM_001251979,NM_001251984,NM_001251977,NM_001251981,NM_001251983,NM_013441,NM_001251978,NM_001251985,NM_001251980,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Nonsense_R62X,Silent,Nonsense_R62X,Nonsense_R62X,Silent,Nonsense_R62X,Nonsense_R62X,Nonsense_R62X,Nonsense_R62X,Nonsense_R62X rs9424380 1 24849240 [T/C] NM_001251979,NM_001251984,NM_001251977,NM_001251981,NM_001251983,NM_013441,NM_001251978,NM_001251985,NM_001251980,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs185511 1 24857086 [A/G] NM_001251979,NM_001251984,NM_001251977,NM_001251981,NM_001251983,NM_013441,NM_001251978,NM_001251985,NM_001251980,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.1738 1 24861697 [D/I] NM_001251979,NM_001251984,NM_001251977,NM_001251981,NM_001251983,NM_013441,NM_001251978,NM_001251985,NM_001251980,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON exm32494 1 24861697 [T/C] NM_001251979,NM_001251984,NM_001251977,NM_001251981,NM_001251983,NM_013441,NM_001251978,NM_001251985,NM_001251980,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Missense_A219V,Missense_A94V,Missense_A219V,Missense_A161V,Missense_A94V,Missense_A219V,Missense_A219V,Missense_P104S,Missense_A209V,Missense_P162S rs196432 1 24861704 [A/G] NM_001251979,NM_001251984,NM_001251977,NM_001251981,NM_001251983,NM_013441,NM_001251978,NM_001251985,NM_001251980,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Synonymous_T221T,Synonymous_T96T,Synonymous_T221T,Synonymous_T163T,Synonymous_T96T,Synonymous_T221T,Synonymous_T221T,Missense_R106Q,Synonymous_T211T,Missense_R164Q exm2232995 1 24861714 [A/G] NM_001251979,NM_001251984,NM_001251977,NM_001251981,NM_001251983,NM_013441,NM_001251978,NM_001251985,NM_001251980,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Missense_D225N,Missense_D100N,Missense_D225N,Missense_D167N,Missense_D100N,Missense_D225N,Missense_D225N,Synonymous_P109P,Missense_D215N,Synonymous_P167P rs11231 1 24863285 [T/C] NM_001251979,NM_001251984,NM_001251977,NM_001251981,NM_001251983,NM_013441,NM_001251978,NM_001251985,NM_001251980,NM_001251982 RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3,RCAN3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7540973 1 24864576 [T/G] rs2776747 1 24876383 [T/C] rs12065278 1 24877458 [A/G] rs6424099 1 24881126 [T/C] rs3893315 1 24884460 [A/G] NM_001010980 NCMAP Silent rs12122463 1 24886818 [A/G] NM_001010980 NCMAP Silent rs4610948 1 24888585 [T/C] NM_001010980 NCMAP Silent rs1929301 1 24894997 [A/G] NM_001010980 NCMAP Silent rs6424106 1 24898453 [T/C] NM_001010980 NCMAP Silent rs4648998 1 24901121 [A/C] NM_001010980 NCMAP Silent rs11249138 1 24910319 [T/C] NM_001010980 NCMAP Silent exm32503 1 24922000 [A/G] NM_001010980 NCMAP EXON Missense_K27E rs10903095 1 24922129 [A/G] NM_001010980 NCMAP Silent rs4425931 1 24927001 [T/G] NM_001010980 NCMAP Silent exm32505 1 24927446 [T/C] NM_001010980 NCMAP EXON Missense_V33A exm32506 1 24927454 [A/G] NM_001010980 NCMAP EXON Missense_V36I rs4649002 1 24929676 [A/G] NM_001010980 NCMAP Silent exm32517 1 24932223 [C/G] NM_001010980 NCMAP EXON Missense_Q98H exm32518 1 24932231 [T/C] NM_001010980 NCMAP EXON Missense_T101M rs11249141 1 24932733 [A/G] NM_001010980 NCMAP EXON Silent rs12062985 1 24937258 [T/C] rs4649005 1 24947948 [T/C] 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 exm32611 1 24995933 [T/C] NM_005839 SRRM1 EXON Missense_R687W rs6691770 1 25012493 [T/C] rs2885174 1 25021037 [A/C] exm-rs4601530 1 25044111 [T/C] rs1002706 1 25051153 [A/G] rs2185151 1 25069939 [A/G] kgp377810 1 25073020 [T/C] NM_013943 CLIC4 Silent kgp3625443 1 25073571 [A/C] NM_013943 CLIC4 Silent exm32654 1 25124329 [A/G] NM_013943 CLIC4 EXON Missense_V57I rs3890756 1 25140825 [A/G] NM_013943 CLIC4 Silent rs10794663 1 25145128 [T/C] NM_013943 CLIC4 Silent rs6667299 1 25158500 [T/C] NM_013943 CLIC4 Silent exm32664 1 25167282 [T/C] NM_013943 CLIC4 EXON Missense_R206C variant.1744 1 25167351 [T/G] NM_013943 CLIC4 EXON Nonsense_E229X rs12439 1 25169634 [A/G] NM_013943 CLIC4 EXON Silent rs7551842 1 25178310 [T/C] rs7523543 1 25186716 [A/G] rs6681012 1 25188064 [A/G] rs10903108 1 25188940 [T/G] rs3131513 1 25193155 [A/G] rs2361150 1 25194299 [A/G] rs3131522 1 25199722 [T/G] rs4649033 1 25207629 [A/G] rs7551358 1 25213803 [A/G] rs10903113 1 25215750 [T/C] rs4649036 1 25217346 [A/G] rs6663310 1 25222379 [T/C] 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 rs2236850 1 25240341 [T/C] NM_004350,NM_001031680 RUNX3,RUNX3 Silent,Silent rs2236852 1 25243767 [A/G] NM_004350,NM_001031680 RUNX3,RUNX3 Silent,Silent rs742230 1 25251424 [A/G] NM_004350,NM_001031680 RUNX3,RUNX3 Silent,Silent rs6662768 1 25251938 [T/C] NM_004350,NM_001031680 RUNX3,RUNX3 Silent,Silent rs11249206 1 25277982 [T/C] NM_001031680 RUNX3 Silent exm2251041 1 25277982 [T/C] NM_001031680 RUNX3 Silent rs1848185 1 25282961 [T/C] NM_001031680 RUNX3 Silent exm-rs11249215 1 25297184 [A/G] rs11249215 1 25297184 [A/G] rs11249216 1 25297217 [T/G] rs1609996 1 25301869 [T/C] exm-rs10903122 1 25303576 [A/G] rs6690896 1 25305607 [A/G] rs432169 1 25314894 [T/C] rs9438880 1 25322574 [A/G] rs311469 1 25331411 [A/G] rs311470 1 25331468 [A/G] rs12058910 1 25333264 [A/G] rs12117144 1 25335222 [T/C] rs10489161 1 25338799 [A/G] rs10903126 1 25344155 [A/G] rs11249245 1 25354020 [A/G] rs311426 1 25358211 [A/G] rs1702312 1 25364652 [T/C] rs404100 1 25366987 [T/C] rs380939 1 25370521 [T/C] rs4649058 1 25375468 [A/G] rs11248971 1 25375583 [A/G] rs4082732 1 25377908 [A/C] exm2264810 1 25378444 [A/G] rs1702311 1 25379360 [A/G] rs7520145 1 25380023 [T/C] rs1997927 1 25382618 [A/G] rs4649060 1 25384533 [T/G] rs12126466 1 25395879 [A/G] rs4568778 1 25397967 [T/C] rs6693687 1 25401760 [T/C] rs380337 1 25401850 [A/G] rs443523 1 25403783 [T/G] rs10493026 1 25407854 [T/G] rs311477 1 25409607 [A/G] rs7533661 1 25413466 [A/G] rs311461 1 25418010 [A/G] rs11588172 1 25421990 [T/C] rs706844 1 25429473 [T/C] rs2660353 1 25441546 [T/C] rs2660367 1 25460648 [T/G] rs11804893 1 25462079 [A/G] rs7530932 1 25467161 [A/G] rs926461 1 25486203 [A/G] rs7527379 1 25495966 [A/G] rs742390 1 25499030 [A/G] rs4520361 1 25519623 [T/C] rs742391 1 25525711 [T/C] rs7516417 1 25548332 [A/G] exm32781 1 25551505 [T/C] NM_207170,NM_015484 SYF2,SYF2 EXON Missense_D143G,Missense_D185G exm32783 1 25551509 [T/C] NM_207170,NM_015484 SYF2,SYF2 EXON Missense_I142V,Missense_I184V exm32789 1 25553993 [T/C] NM_207170,NM_015484 SYF2,SYF2 EXON Missense_H94R,Missense_H136R rs12057593 1 25554230 [T/C] NM_207170,NM_015484 SYF2,SYF2 Silent,Silent exm32794 1 25554719 [A/G] NM_207170,NM_015484 SYF2,SYF2 EXON Missense_A47V,Missense_A89V variant.1748 1 25555484 [T/C] NM_207170,NM_015484 SYF2,SYF2 Silent,Silent exm2268872 1 25555672 [T/C] NM_207170,NM_015484 SYF2,SYF2 Silent,Silent rs942988 1 25555813 [A/G] NM_207170,NM_015484 SYF2,SYF2 Silent,Silent newrs149585550 1 25569197 [T/C] NM_020317 C1orf63 Silent exm32810 1 25570081 [T/C] NM_020317 C1orf63 EXON Missense_E239G exm32815 1 25571666 [A/G] NM_020317 C1orf63 EXON Missense_V216A indel.1752 1 25572950 [I/D] NM_020317 C1orf63 EXON 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 indel.1762 1 25627434 [I/D] NM_001127691,NM_016124 RHD,RHD 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 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 rs3093588 1 25669656 [T/C] NM_014313 TMEM50A Silent exm-rs3091242 1 25674785 [T/C] NM_014313 TMEM50A Silent newrs145601651 1 25678145 [T/C] NM_014313 TMEM50A EXON Nonsense_R79X exm1779623 1 25679393 [A/G] NM_014313 TMEM50A EXON Missense_V99I exm32964 1 25679438 [A/G] NM_014313 TMEM50A EXON Missense_I114V rs1293259 1 25695835 [A/G] NM_138616,NM_020485,NM_138618,NM_138617 RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent rs28742187 1 25698655 [A/G] NM_138616,NM_020485,NM_138618,NM_138617 RHCE,RHCE,RHCE,RHCE Silent,Silent,Silent,Silent exm32979 1 25712227 [C/G] NM_138616,NM_020485,NM_138618,NM_138617 RHCE,RHCE,RHCE,RHCE EXON Missense_H199D,Missense_H350D,Silent,Missense_H245D exm32981 1 25712269 [A/C] NM_138616,NM_020485,NM_138618,NM_138617 RHCE,RHCE,RHCE,RHCE EXON Missense_G185C,Missense_G336C,Silent,Missense_G231C exm33001 1 25717365 [G/C] NM_138616,NM_020485,NM_138618,NM_138617 RHCE,RHCE,RHCE,RHCE EXON Silent,Missense_A226P,Missense_A226P,Silent exm33010 1 25718599 [T/C] NM_138616,NM_020485,NM_138618,NM_138617 RHCE,RHCE,RHCE,RHCE EXON Silent,Missense_V174M,Missense_V174M,Silent exm1780091 1 25729198 [G/C] NM_138616,NM_020485,NM_138618,NM_138617 RHCE,RHCE,RHCE,RHCE EXON Missense_I125M,Missense_I125M,Missense_I125M,Missense_I125M rs11249248 1 25753051 [T/C] exm-rs10903129 1 25768937 [A/G] NM_018202 TMEM57 Silent rs10903129 1 25768937 [A/G] NM_018202 TMEM57 Silent 1KG_1_25775374 1 25775374 [I/D] NM_018202 TMEM57 EXON 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 rs34933589 1 25788198 [T/C] NM_018202 TMEM57 Silent kgp3584491 1 25794892 [A/G] NM_018202 TMEM57 Silent 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 rs12096438 1 25889422 [T/C] NM_015627 LDLRAP1 Silent 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 rs3924234 1 25895599 [T/C] rs10902661 1 25908241 [T/C] rs7546822 1 25914219 [T/C] rs7553504 1 25928935 [T/C] rs6689171 1 25941014 [A/G] rs3754168 1 25941936 [T/G] exm33178 1 25944454 [C/G] NM_020379 MAN1C1 EXON Missense_P56A rs6662191 1 25950520 [A/G] NM_020379 MAN1C1 Silent rs3767908 1 25968690 [A/G] NM_020379 MAN1C1 Silent rs3014714 1 25981789 [A/G] NM_020379 MAN1C1 Silent rs3014712 1 25991356 [T/G] NM_020379 MAN1C1 Silent exm33191 1 26012988 [T/C] NM_020379 MAN1C1 EXON Missense_R200C rs2744778 1 26013252 [T/C] NM_020379 MAN1C1 Silent rs2744780 1 26020784 [A/C] NM_020379 MAN1C1 Silent rs2786875 1 26061266 [A/C] NM_020379 MAN1C1 Silent rs3767880 1 26069415 [A/G] NM_020379 MAN1C1 Silent 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 rs807262 1 26081051 [A/G] NM_020379 MAN1C1 Silent exm1781563 1 26085106 [T/C] NM_020379 MAN1C1 EXON Missense_A318V rs807270 1 26090072 [A/G] NM_020379 MAN1C1 Silent rs3820515 1 26092248 [A/C] NM_020379 MAN1C1 Silent 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 rs7524154 1 26125175 [T/C] 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 var_1_26150110 1 26150110 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L Silent,Silent,Silent,Silent variant.1792 1 26150111 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L Silent,Silent,Silent,Silent exm33356 1 26150160 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_P17L,Missense_P17L,Missense_P17L,Missense_P17L exm33359 1 26150190 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_R27K,Missense_R27K,Missense_R27K,Missense_R27K exm33365 1 26152835 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_P58S,Missense_P58S,Missense_P58S,Missense_P58S exm33370 1 26153114 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_T83M,Missense_T83M,Missense_T83M,Missense_T83M exm33373 1 26153204 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_R113K,Missense_R113K,Missense_R113K,Missense_R113K exm33375 1 26153245 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_R127C,Missense_R127C,Missense_R127C,Missense_R127C rs10902694 1 26155356 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L Silent,Silent,Silent,Silent exm33383 1 26156074 [A/T] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_S176T,Silent,Missense_S176T,Missense_S176T exm33384 1 26156118 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Synonymous_T190T,Missense_P154L,Synonymous_T190T,Synonymous_T190T exm33385 1 26156133 [A/G] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Synonymous_V195V,Nonsense_W159X,Synonymous_V195V,Synonymous_V195V variant.1795 1 26156299 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Nonsense_R251X,Silent,Nonsense_R251X,Nonsense_R251X exm33394 1 26158498 [T/C] NM_001099625,NM_001099627,NM_019557,NM_001099626 MTFR1L,MTFR1L,MTFR1L,MTFR1L EXON Missense_I287T,Silent,Missense_I287T,Missense_I287T indel.1796 1 26161572 [I/D] NM_024037 AUNIP EXON exm33400 1 26161593 [T/C] NM_024037 AUNIP EXON Missense_N322S var_1_26161629 1 26161630 [I/D] NM_024037 AUNIP EXON exm33403 1 26161671 [T/C] NM_024037 AUNIP EXON Missense_R296Q indel.1798 1 26161781 [I/D] NM_024037 AUNIP EXON indel.1799 1 26161784 [I/D] NM_024037 AUNIP EXON indel.1800 1 26161799 [D/I] NM_024037 AUNIP EXON exm33409 1 26161800 [A/G] NM_024037 AUNIP EXON Missense_S253F variant.1801 1 26161834 [A/G] NM_024037 AUNIP EXON Nonsense_Q242X indel.1804 1 26161916 [D/I] NM_024037 AUNIP EXON variant.1805 1 26161965 [T/C] NM_024037 AUNIP EXON Nonsense_W198X variant.1806 1 26161999 [A/G] NM_024037 AUNIP EXON Nonsense_R187X 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 indel.1809 1 26164006 [D/I] NM_024037 AUNIP EXON exm33438 1 26164009 [A/G] NM_024037 AUNIP EXON Missense_L39F indel.1810 1 26164009 [D/I] NM_024037 AUNIP EXON rs213632 1 26167843 [A/G] NM_024037 AUNIP Silent rs213627 1 26172111 [A/G] NM_024037 AUNIP Silent 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 rs213621 1 26207244 [A/G] rs159530 1 26210791 [T/C] NM_001145454 STMN1 EXON Silent rs159528 1 26211773 [T/C] NM_001145454 STMN1 EXON Silent exm2233038 1 26212220 [A/C] NM_001145454 STMN1 EXON Missense_H173Q exm33531 1 26212261 [A/G] NM_001145454 STMN1 EXON Missense_L160F rs807061 1 26242882 [A/G] rs10902706 1 26246214 [A/G] rs10902707 1 26266697 [A/G] rs10902709 1 26274156 [A/G] rs10751731 1 26284884 [T/C] exm33548 1 26288523 [A/G] NM_000437 PAFAH2 EXON Missense_P379L rs1429936 1 26297909 [A/G] NM_000437 PAFAH2 Silent exm2276804 1 26299049 [C/G] NM_000437 PAFAH2 EXON Missense_D362H exm33549 1 26299050 [A/G] NM_000437 PAFAH2 EXON Synonymous_L361L 1KG_1_26299200 1 26299200 [D/I] NM_000437 PAFAH2 EXON variant.1815 1 26299205 [T/C] NM_000437 PAFAH2 Silent exm33557 1 26300975 [T/C] NM_000437 PAFAH2 EXON Missense_V309I indel.1816 1 26301007 [D/I] NM_000437 PAFAH2 EXON indel.1817 1 26301035 [D/I] NM_000437 PAFAH2 EXON variant.1818 1 26301080 [A/G] NM_000437 PAFAH2 EXON Nonsense_R274X indel.1819 1 26301104 [D/I] NM_000437 PAFAH2 EXON exm33561 1 26301114 [T/C] NM_000437 PAFAH2 EXON Missense_M262I rs298442 1 26301699 [T/C] NM_000437 PAFAH2 Silent exm33563 1 26303173 [T/C] NM_000437 PAFAH2 EXON Missense_R253Q exm33565 1 26303228 [A/G] NM_000437 PAFAH2 EXON Missense_H235Y variant.1821 1 26308855 [T/C] NM_000437 PAFAH2 EXON Synonymous_K222K exm33566 1 26308864 [T/C] NM_000437 PAFAH2 EXON Missense_M219I indel.1822 1 26308880 [D/I] NM_000437 PAFAH2 EXON 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 variant.1829 1 26317229 [A/G] NM_000437 PAFAH2 EXON Nonsense_Q27X exm1782009 1 26317301 [A/C] NM_000437 PAFAH2 EXON Missense_V3F exm33612 1 26317303 [T/C] NM_000437 PAFAH2 EXON Missense_G2E rs12074420 1 26345027 [A/G] 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 rs4659404 1 26365374 [T/G] NM_001004434,NM_032513 SLC30A2,SLC30A2 EXON Silent,Silent 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 rs3008428 1 26376607 [A/G] rs1135253 1 26377880 [A/G] NM_032588 TRIM63 EXON Silent variant.1841 1 26380384 [T/C] NM_032588 TRIM63 EXON Missense_G351R exm33781 1 26380423 [A/C] NM_032588 TRIM63 EXON Missense_D338Y rs2275947 1 26383875 [A/G] NM_032588 TRIM63 Silent 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 rs3008419 1 26402820 [A/C] rs12069719 1 26411918 [A/G] rs2802314 1 26431337 [T/C] indel.1848 1 26441071 [D/I] NM_001243532,NM_152835,NM_001243533 PDIK1L,PDIK1L,PDIK1L EXON rs17257107 1 26448447 [A/G] NM_001243532,NM_152835,NM_001243533 PDIK1L,PDIK1L,PDIK1L EXON Synonymous_K135K,Synonymous_K135K,Synonymous_K135K exm2273320 1 26450009 [T/C] NM_001243532,NM_152835,NM_001243533 PDIK1L,PDIK1L,PDIK1L EXON Silent,Silent,Silent rs868551 1 26475521 [A/G] exm33878 1 26487895 [A/G] NM_024869 FAM110D EXON Missense_R38Q rs10794524 1 26493240 [T/C] rs2232648 1 26496455 [T/C] NM_015871 ZNF593 EXON Silent exm33906 1 26496491 [A/G] NM_015871 ZNF593 EXON Missense_R6Q variant.1850 1 26496971 [T/G] NM_015871 ZNF593 EXON Missense_R88M rs2783633 1 26505265 [A/G] NM_006314,NR_023345 CNKSR1,CNKSR1 Silent,Silent 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 variant.1866 1 26513733 [A/G] NM_006314,NR_023345 CNKSR1,CNKSR1 Silent,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 rs4659411 1 26516845 [T/C] 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 rs11247867 1 26517891 [T/C] NM_198137 CATSPER4 EXON Synonymous_I109I 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 rs12732367 1 26522723 [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 rs9970046 1 26524706 [A/G] NM_198137 CATSPER4 Silent 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 rs12145714 1 26527255 [A/G] NM_198137 CATSPER4 Silent 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 rs4659413 1 26547375 [T/C] rs3795687 1 26560745 [A/G] NM_022778 CEP85 EXON Silent 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 indel.1881 1 26570763 [D/I] NM_022778 CEP85 EXON 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 exm34262 1 26584144 [A/C] NM_022778 CEP85 EXON Synonymous_I320I exm2251134 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 rs7550997 1 26596080 [A/G] NM_022778 CEP85 EXON Missense_A542T exm1782840 1 26596095 [A/G] NM_022778 CEP85 EXON Missense_A547T rs12096059 1 26596709 [A/G] NM_022778 CEP85 Silent exm34291 1 26597519 [A/G] NM_022778 CEP85 EXON Missense_Q555R exm34292 1 26597521 [T/G] NM_022778 CEP85 EXON Missense_S556A newrs142714882 1 26598562 [T/G] NM_022778 CEP85 EXON Missense_Q598H 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_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_R473Q,Missense_R353Q,Missense_R440Q exm1782881 1 26609029 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_S442G,Missense_S322G,Missense_S409G exm1782884 1 26609233 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_R400H,Missense_R280H,Missense_R367H exm34405 1 26610881 [G/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_K315N,Missense_K195N,Missense_K282N exm34406 1 26610891 [A/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_L312R,Missense_L192R,Missense_L279R exm34412 1 26610961 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_R289C,Missense_R169C,Missense_R256C exm34416 1 26611971 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_N279S,Missense_N159S,Missense_N246S exm34418 1 26612032 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_R259C,Missense_R139C,Missense_R226C exm34427 1 26612475 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Nonsense_Q205X,Nonsense_Q85X,Nonsense_Q172X rs4233458 1 26615616 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 Silent,Silent,Silent exm34430 1 26620735 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_E174K,Silent,Missense_E141K exm34431 1 26620761 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_E165G,Silent,Missense_E132G exm34433 1 26620806 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_Y150C,Silent,Missense_Y117C rs6681452 1 26621101 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 Silent,Silent,Silent exm34445 1 26623935 [T/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_T113N,Silent,Missense_T80N exm34446 1 26623939 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Nonsense_Q112X,Silent,Nonsense_Q79X exm34448 1 26624467 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_E96K,Silent,Missense_E63K exm34449 1 26624479 [A/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_A92S,Silent,Missense_A59S exm34452 1 26627423 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_R65W,Missense_R65W,Silent rs2276712 1 26627478 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Synonymous_S46S,Synonymous_S46S,Silent exm34457 1 26627479 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_S46L,Missense_S46L,Silent exm2233053 1 26628186 [A/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_D33E,Missense_D33E,Missense_D33E exm34469 1 26629304 [T/C] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_G24E,Missense_G24E,Missense_G24E exm34470 1 26629322 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Missense_S18L,Missense_S18L,Missense_S18L variant.1903 1 26629341 [A/G] NM_183008,NM_001077262,NM_145345 UBXN11,UBXN11,UBXN11 EXON Nonsense_R12X,Nonsense_R12X,Nonsense_R12X 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 rs11247916 1 26655208 [T/C] NM_001039775 AIM1L Silent 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 rs4659431 1 26658391 [A/C] NM_001039775 AIM1L Silent 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 rs11247919 1 26664968 [T/C] NM_001039775 AIM1L EXON Synonymous_L1115L exm34625 1 26665873 [G/C] NM_001039775 AIM1L EXON Missense_K1084N variant.1916 1 26665922 [T/C] NM_001039775 AIM1L Silent 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 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 rs7535656 1 26673466 [A/C] NM_001039775 AIM1L Silent rs11582416 1 26677721 [T/C] NM_001039775 AIM1L Silent exm1783328 1 26688125 [T/C] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Silent,Silent exm34735 1 26688173 [A/G] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_P495L,Missense_P495L exm34739 1 26688208 [T/A] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_K483N,Missense_K483N exm34751 1 26688381 [A/G] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_R426W,Missense_R426W exm34759 1 26688464 [T/C] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_R398H,Missense_R398H rs12030833 1 26689220 [A/G] NM_173574,NM_001114759 ZNF683,ZNF683 Silent,Silent variant.1924 1 26689517 [T/C] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Synonymous_S381S,Synonymous_S381S rs7547496 1 26690481 [T/C] NM_173574,NM_001114759 ZNF683,ZNF683 Silent,Silent rs11247933 1 26691174 [A/C] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_R288L,Missense_R288L exm34778 1 26691174 [A/C] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_R288L,Missense_R288L exm34781 1 26691207 [T/C] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_G277E,Missense_G277E exm34784 1 26691261 [A/G] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_A259V,Missense_A259V exm34794 1 26691310 [C/G] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_L243V,Missense_L243V exm34796 1 26691351 [T/G] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_P229H,Missense_P229H exm34800 1 26691445 [A/G] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_L198F,Missense_L198F exm34801 1 26691448 [T/G] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_P197T,Missense_P197T exm34802 1 26691466 [T/C] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_A191T,Missense_A191T exm34807 1 26691637 [C/G] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_L134V,Missense_L134V exm34815 1 26694118 [T/G] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_D95E,Missense_D95E exm34822 1 26694245 [T/C] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_H53R,Missense_H53R exm34824 1 26694260 [T/C] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_D48G,Missense_D48G exm34827 1 26694968 [T/C] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_Q32R,Missense_Q32R exm34832 1 26694998 [A/C] NM_173574,NM_001114759 ZNF683,ZNF683 EXON Missense_G22V,Missense_G22V indel.1928 1 26695025 [D/I] NM_173574,NM_001114759 ZNF683,ZNF683 EXON rs11247937 1 26699157 [T/C] NM_173574,NM_001114759 ZNF683,ZNF683 Silent,Silent rs11247940 1 26709040 [A/C] rs7529342 1 26709504 [T/C] rs12043608 1 26714161 [T/C] rs11247946 1 26719115 [T/C] rs11587947 1 26719264 [T/C] rs9438621 1 26722384 [A/G] exm2260105 1 26722384 [A/G] rs12122703 1 26735773 [A/G] exm-rs7532866 1 26741544 [A/G] NM_024674 LIN28A Silent rs6683792 1 26743903 [T/C] NM_024674 LIN28A Silent rs35015532 1 26752129 [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 rs11584995 1 26770999 [A/G] NM_001243564,NM_205861,NM_001243565,NM_024887 DHDDS,DHDDS,DHDDS,DHDDS Silent,Silent,Silent,Silent 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 rs9438551 1 26775223 [T/G] NM_001243564,NM_205861,NM_001243565,NM_024887 DHDDS,DHDDS,DHDDS,DHDDS Silent,Silent,Silent,Silent 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 rs3816539 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 variant.1932 1 26800309 [A/G] NM_005517 HMGN2 Silent rs12741800 1 26802548 [T/C] NM_005517 HMGN2 EXON Silent rs4659375 1 26804090 [A/G] kgp7884818 1 26809402 [A/G] rs11247963 1 26855401 [A/G] exm35011 1 26863453 [T/C] NM_002953 RPS6KA1 EXON Missense_P34L rs10493038 1 26865688 [A/G] NM_002953 RPS6KA1 Silent exm35019 1 26872452 [A/G] NM_002953,NM_001006665 RPS6KA1,RPS6KA1 EXON Silent,Missense_R21G rs17162190 1 26872832 [A/G] NM_002953,NM_001006665 RPS6KA1,RPS6KA1 Silent,Silent rs2278978 1 26873245 [A/G] NM_002953,NM_001006665 RPS6KA1,RPS6KA1 Silent,Silent 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 rs1064196 1 26887592 [T/C] NM_002953,NM_001006665 RPS6KA1,RPS6KA1 EXON Synonymous_Y466Y,Synonymous_Y475Y 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 rs2229714 1 26900708 [A/G] NM_002953,NM_001006665 RPS6KA1,RPS6KA1 EXON Silent,Silent exm2251156 1 26909765 [T/C] rs17162247 1 26924308 [A/G] kgp9307817 1 26926993 [T/C] rs17162257 1 26929002 [T/G] rs4466675 1 27020012 [T/C] rs6598860 1 27021684 [A/G] rs11247593 1 27052080 [A/G] NM_006015,NM_139135 ARID1A,ARID1A Silent,Silent exm35140 1 27056179 [A/C] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_P392H,Missense_P392H exm35174 1 27087917 [A/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_S735N,Missense_S735N exm35181 1 27088784 [T/C] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_P798L,Missense_P798L exm35196 1 27089659 [T/C] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_M872T,Missense_M872T exm35200 1 27089712 [A/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_M890V,Missense_M890V exm35201 1 27089742 [A/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_A900T,Missense_A900T exm35204 1 27092729 [A/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_N917S,Missense_N917S exm35209 1 27092804 [A/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_N942S,Missense_N942S exm2233076 1 27094338 [A/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_G1016S,Missense_G1016S exm35217 1 27097653 [A/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_N1081S,Missense_N1081S exm35219 1 27098992 [A/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Synonymous_A1136A,Synonymous_A1136A exm2233077 1 27099881 [A/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_G1254S,Missense_G1254S exm35244 1 27100077 [T/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_E1291D,Missense_E1291D exm35249 1 27100142 [A/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_N1313S,Missense_N1313S exm35277 1 27101282 [A/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_A1522T,Silent exm2233080 1 27101469 [A/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_Q1584R,Silent exm2251168 1 27101584 [G/C] NM_006015,NM_139135 ARID1A,ARID1A EXON Synonymous_A1622A,Synonymous_A1405A exm35293 1 27101597 [C/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_P1627A,Missense_P1410A exm35305 1 27102188 [A/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_N1705S,Missense_N1488S exm35308 1 27105655 [T/C] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_P1756S,Missense_P1539S exm1784676 1 27105700 [T/C] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_P1771S,Missense_P1554S exm35311 1 27105725 [A/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_E1779G,Missense_E1562G exm2233081 1 27105838 [A/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_V1817I,Missense_V1600I exm35318 1 27105880 [G/C] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_L1831V,Missense_L1614V exm2233082 1 27106004 [T/C] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_A1872V,Missense_A1655V exm35328 1 27106106 [A/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_R1906Q,Missense_R1689Q exm35331 1 27106168 [C/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_A1927P,Missense_A1710P exm35333 1 27106333 [A/G] NM_006015,NM_139135 ARID1A,ARID1A EXON Missense_V1982I,Missense_V1765I 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 variant.1938 1 27121019 [A/C] NM_017837,NM_001202554 PIGV,PIGV EXON Missense_A165E,Missense_A165E 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 variant.1941 1 27177722 [T/C] NM_032283 ZDHHC18 EXON Synonymous_D312D exm35455 1 27177723 [A/G] NM_032283 ZDHHC18 Silent rs10902645 1 27179062 [T/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 rs10902646 1 27182984 [T/G] 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 newrs149255985 1 27210706 [A/G] NM_018066 GPN2 EXON Nonsense_R269X 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 variant.1948 1 27219880 [T/C] NM_022078 GPATCH3 EXON Missense_D371N rs11810321 1 27220521 [T/G] NM_022078 GPATCH3 Silent 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 newrs148453803 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 rs17162351 1 27267042 [T/G] NM_006600 NUDC Silent 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 variant.1966 1 27278168 [A/G] NM_152365 C1orf172 EXON Missense_S235L 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 rs3010110 1 27278521 [A/G] NM_152365 C1orf172 EXON Synonymous_D117D 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 rs17356923 1 27282676 [A/G] NM_152365 C1orf172 Silent rs12742376 1 27285195 [T/C] NM_152365 C1orf172 Silent 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 rs2993066 1 27358792 [T/C] rs568533 1 27372924 [T/G] rs537951 1 27374218 [A/G] rs479067 1 27375997 [T/C] kgp172599 1 27377401 [A/G] rs5810 1 27426219 [A/G] NM_003047,NR_046474 SLC9A1,SLC9A1 EXON Silent,Silent exm35863 1 27426875 [T/C] NM_003047,NR_046474 SLC9A1,SLC9A1 EXON Missense_I791V,Silent exm35867 1 27426971 [T/C] NM_003047,NR_046474 SLC9A1,SLC9A1 EXON Missense_D759N,Silent exm35869 1 27426974 [T/C] NM_003047,NR_046474 SLC9A1,SLC9A1 EXON Missense_D758N,Silent exm35872 1 27427009 [T/C] NM_003047,NR_046474 SLC9A1,SLC9A1 EXON Missense_R746Q,Silent exm35895 1 27428621 [T/C] NM_003047,NR_046474 SLC9A1,SLC9A1 EXON Synonymous_Q607Q,Silent exm2251185 1 27428971 [C/G] NM_003047,NR_046474 SLC9A1,SLC9A1 EXON Synonymous_A575A,Silent exm35939 1 27436163 [A/G] NM_003047,NR_046474 SLC9A1,SLC9A1 EXON Missense_L307F,Silent exm35942 1 27436223 [T/C] NM_003047,NR_046474 SLC9A1,SLC9A1 EXON Missense_G287S,Silent rs6696706 1 27477549 [T/C] NM_003047,NR_046474 SLC9A1,SLC9A1 Silent,Silent exm35968 1 27480600 [A/G] NM_003047,NR_046474 SLC9A1,SLC9A1 EXON Missense_H76Y,Silent rs12402451 1 27488299 [T/C] rs6687674 1 27537101 [A/G] rs10902652 1 27558522 [T/C] rs6598879 1 27586900 [A/G] NM_001276252,NM_015023 WDTC1,WDTC1 Silent,Silent exm35980 1 27589698 [A/G] NM_001276252,NM_015023 WDTC1,WDTC1 EXON Missense_R35Q,Missense_R35Q exm35994 1 27614187 [A/G] NM_001276252,NM_015023 WDTC1,WDTC1 EXON Missense_R105H,Missense_R105H exm36012 1 27621022 [A/C] NM_001276252,NM_015023 WDTC1,WDTC1 EXON Missense_L259I,Missense_L259I exm36016 1 27622832 [T/A] NM_001276252,NM_015023 WDTC1,WDTC1 EXON Missense_L297M,Missense_L297M exm36041 1 27627950 [G/C] NM_001276252,NM_015023 WDTC1,WDTC1 EXON Missense_G489A,Missense_G488A exm36051 1 27630147 [T/C] NM_001276252,NM_015023 WDTC1,WDTC1 EXON Missense_R502C,Missense_R501C exm36065 1 27632690 [C/G] NM_001276252,NM_015023 WDTC1,WDTC1 EXON Missense_T617R,Missense_T616R exm36076 1 27648771 [A/C] NR_037576,NR_037580,NM_032125,NR_037577 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Missense_T28K,Silent exm36078 1 27648785 [A/G] NR_037576,NR_037580,NM_032125,NR_037577 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Missense_D33N,Silent exm36086 1 27660486 [A/G] NR_037576,NR_037580,NM_032125,NR_037577 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Missense_G117R,Silent exm36095 1 27660742 [T/G] NR_037576,NR_037580,NM_032125,NR_037577 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Missense_F170C,Silent exm36097 1 27660768 [A/G] NR_037576,NR_037580,NM_032125,NR_037577 TMEM222,TMEM222,TMEM222,TMEM222 EXON Silent,Silent,Missense_V179I,Silent rs12565684 1 27661037 [T/C] NR_037576,NR_037580,NM_032125,NR_037577 TMEM222,TMEM222,TMEM222,TMEM222 Silent,Silent,Silent,Silent exm36106 1 27661931 [A/G] NR_037576,NR_037580,NM_032125,NR_037577 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 rs11247639 1 27679692 [A/G] NM_001193308,NM_032872 SYTL1,SYTL1 Silent,Silent 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 rs4525067 1 27689763 [T/C] NM_004672 MAP3K6 Silent 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_173452,NM_003665 FCN3,FCN3 EXON Missense_R284W,Missense_R295W exm36450 1 27695767 [A/G] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_V276A,Missense_V287A newrs138304758 1 27695865 [T/C] NM_173452,NM_003665 FCN3,FCN3 EXON Nonsense_W243X,Nonsense_W254X exm36466 1 27697167 [A/G] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_A182V,Missense_A193V exm36472 1 27697359 [C/G] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_E155D,Missense_E166D exm36475 1 27697425 [G/C] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_F133L,Missense_F144L exm36476 1 27697444 [A/T] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_D127V,Missense_D138V exm36480 1 27699626 [T/C] NM_173452,NM_003665 FCN3,FCN3 Silent,Silent exm36484 1 27699644 [T/C] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_E115K,Missense_E126K exm36486 1 27699647 [T/C] NM_173452,NM_003665 FCN3,FCN3 EXON Missense_T114A,Missense_T125A exm36491 1 27699753 [A/G] NM_173452,NM_003665 FCN3,FCN3 EXON Synonymous_G78G,Synonymous_G89G exm36498 1 27699991 [A/G] NM_173452,NM_003665 FCN3,FCN3 EXON Silent,Missense_R85W exm36500 1 27700455 [T/C] NM_173452,NM_003665 FCN3,FCN3 Silent,Silent exm36506 1 27700924 [T/G] NM_173452,NM_003665 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 indel.2016 1 27744776 [D/I] NM_001201404,NM_006990 WASF2,WASF2 EXON var_1_27745455 1 27745455 [T/C] NM_001201404,NM_006990 WASF2,WASF2 EXON Missense_V89M,Missense_V89M rs2474301 1 27773902 [A/G] NM_001201404,NM_006990 WASF2,WASF2 Silent,Silent rs7531313 1 27782390 [T/C] NM_001201404,NM_006990 WASF2,WASF2 Silent,Silent rs6668823 1 27786813 [A/G] NM_001201404,NM_006990 WASF2,WASF2 Silent,Silent rs4075401 1 27836014 [T/G] 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 kgp2605509 1 27883227 [T/C] NM_001029882 AHDC1 Silent kgp8830183 1 27889163 [T/C] NM_001029882 AHDC1 Silent exm2260122 1 27931698 [A/G] rs6598891 1 27937456 [T/C] exm36878 1 27939442 [A/G] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_P525S,Missense_P525S,Missense_P525S exm1786266 1 27939528 [T/C] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_R496H,Missense_R496H,Missense_R496H exm2251203 1 27939581 [T/C] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Synonymous_P478P,Synonymous_P478P,Synonymous_P478P exm36907 1 27942346 [T/A] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_D231V,Missense_D231V,Missense_D231V exm2233112 1 27948108 [C/G] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_S130R,Missense_S130R,Missense_S130R exm2276805 1 27949553 [A/G] NM_001042729,NM_005248,NM_001042747 FGR,FGR,FGR EXON Missense_T110I,Missense_T110I,Missense_T110I rs6691864 1 27965892 [A/G] rs1292081 1 27971502 [A/G] exm36942 1 27992953 [A/G] NM_022873,NM_002038,NM_022872 IFI6,IFI6,IFI6 EXON Missense_I119T,Missense_I111T,Missense_I115T rs2808422 1 28017518 [T/G] rs4908360 1 28028200 [A/G] rs2272795 1 28051611 [A/G] rs1736540 1 28053477 [T/C] NM_001143914,NM_001143912,NM_001143915,NM_001143913,NM_152660 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A Silent,Silent,Silent,Silent,Silent rs6670793 1 28060574 [A/G] NM_001143914,NM_001143912,NM_001143915,NM_001143913,NM_152660 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Synonymous_A78A,Synonymous_A112A,Silent,Synonymous_A112A,Synonymous_A78A exm36985 1 28060600 [A/G] NM_001143914,NM_001143912,NM_001143915,NM_001143913,NM_152660 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_R87H,Missense_R121H,Silent,Missense_R121H,Missense_R87H indel.2026 1 28060636 [I/D] NM_001143914,NM_001143912,NM_001143915,NM_001143913,NM_152660 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON exm1786473 1 28071229 [A/G] NM_001143914,NM_001143912,NM_001143915,NM_001143913,NM_152660 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_K140R,Missense_K174R,Missense_K89R,Missense_K174R,Missense_K140R exm36995 1 28075662 [A/G] NM_001143914,NM_001143912,NM_001143915,NM_001143913,NM_152660 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Silent,Missense_D233G,Silent,Silent,Missense_D199G variant.2027 1 28081764 [T/C] NM_001143914,NM_001143912,NM_001143915,NM_001143913,NM_152660 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Nonsense_Q191X,Nonsense_Q254X,Nonsense_Q140X,Nonsense_Q225X,Nonsense_Q220X exm37000 1 28087052 [T/G] NM_001143914,NM_001143912,NM_001143915,NM_001143913,NM_152660 FAM76A,FAM76A,FAM76A,FAM76A,FAM76A EXON Missense_S266I,Missense_S329I,Missense_S215I,Missense_S300I,Missense_S295I rs2064072 1 28106233 [A/G] NM_177424 STX12 Silent indel.2029 1 28120133 [D/I] NM_177424 STX12 EXON exm37008 1 28128190 [A/G] NM_177424 STX12 EXON Missense_R97H exm37010 1 28128318 [T/C] NM_177424 STX12 EXON Missense_R140C indel.2030 1 28136793 [I/D] NM_177424 STX12 EXON exm37022 1 28146199 [A/G] NM_177424 STX12 EXON Missense_V230I variant.2031 1 28146244 [A/G] NM_177424 STX12 Silent rs11247691 1 28148561 [T/C] NM_177424 STX12 Silent rs2072750 1 28157871 [T/C] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Silent,Silent,Silent indel.2032 1 28159285 [D/I] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON 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 newrs191813798 1 28176927 [A/C] NM_014110,NM_138558,NM_002713 PPP1R8,PPP1R8,PPP1R8 EXON Synonymous_G342G,Synonymous_G200G,Synonymous_G118G rs11247703 1 28203653 [G/C] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 Silent,Silent,Silent exm37101 1 28206250 [T/C] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_F111L,Missense_F111L,Silent exm37104 1 28206295 [A/G] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_E126K,Missense_E126K,Silent exm37112 1 28206440 [T/C] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_A174V,Missense_A174V,Silent exm37115 1 28206533 [A/G] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_R205Q,Missense_R205Q,Silent exm37124 1 28208572 [T/C] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_P246L,Silent,Silent exm37125 1 28208649 [T/C] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_R272C,Silent,Silent exm37129 1 28208727 [T/C] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_P298S,Silent,Silent exm37131 1 28208829 [T/C] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_P332S,Silent,Silent exm2233120 1 28208932 [T/C] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_T366M,Silent,Silent exm37154 1 28209366 [A/G] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_K511E,Silent,Silent rs3766400 1 28209366 [A/G] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_K511E,Silent,Silent exm37156 1 28209381 [T/C] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_P516S,Silent,Silent exm37162 1 28209484 [T/C] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_P550L,Silent,Silent exm37166 1 28211835 [T/C] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Synonymous_H583H,Missense_R226C,Missense_R89C exm37167 1 28211859 [A/G] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Synonymous_A591A,Missense_E234K,Missense_E97K exm37168 1 28211893 [A/G] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_S603G,Missense_Q245R,Missense_Q108R exm37170 1 28211920 [A/G] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_R612G,Missense_Q254R,Missense_Q117R exm37173 1 28212428 [A/G] NM_001105556,NM_004848,NM_001039477 THEMIS2,THEMIS2,THEMIS2 EXON Missense_I643V,Silent,Silent rs7356 1 28218100 [T/C] NM_002946 RPA2 EXON Silent exm2268669 1 28218100 [T/C] NM_002946 RPA2 EXON Silent indel.2036 1 28218709 [I/D] NM_002946 RPA2 EXON rs2474470 1 28234999 [T/C] NM_002946 RPA2 Silent exm37198 1 28240593 [A/G] NM_002946 RPA2 EXON Missense_S33F exm37202 1 28240648 [T/C] NM_002946 RPA2 EXON Missense_G15R indel.2039 1 28240932 [D/I] NM_002946 RPA2 rs11247723 1 28251700 [A/C] rs6676158 1 28257209 [A/G] exm37229 1 28261756 [T/G] NM_001009568,NM_014474 SMPDL3B,SMPDL3B Silent,Silent rs3737807 1 28261902 [A/C] NM_001009568,NM_014474 SMPDL3B,SMPDL3B Silent,Silent rs1010082 1 28267869 [T/G] NM_001009568,NM_014474 SMPDL3B,SMPDL3B Silent,Silent rs10902678 1 28268573 [T/C] 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 rs10902682 1 28274984 [A/G] NM_001009568,NM_014474 SMPDL3B,SMPDL3B Silent,Silent rs4256835 1 28276389 [A/G] NM_001009568,NM_014474 SMPDL3B,SMPDL3B Silent,Silent 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 rs6699701 1 28298951 [T/C] NM_001990 EYA3 EXON Silent rs12565238 1 28299346 [T/C] NM_001990 EYA3 EXON Silent indel.2059 1 28304930 [I/D] NM_001990 EYA3 EXON rs12040932 1 28311224 [T/C] NM_001990 EYA3 Silent rs2492958 1 28314423 [A/G] NM_001990 EYA3 Silent 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 rs10902684 1 28377053 [T/C] NM_001990 EYA3 Silent rs537374 1 28387137 [T/C] NM_001990 EYA3 Silent rs3753864 1 28390596 [T/C] NM_001990 EYA3 Silent rs2486674 1 28420384 [A/G] exm2264811 1 28432549 [A/G] rs6598919 1 28432549 [A/G] rs12565621 1 28451885 [A/G] rs12088946 1 28464178 [T/C] exm37412 1 28476520 [T/C] NM_001164722,NM_001164721,NM_000952,NM_001164723 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_N338S,Missense_N338S,Missense_N338S,Missense_N338S exm37420 1 28476713 [T/C] NM_001164722,NM_001164721,NM_000952,NM_001164723 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_A274T,Missense_A274T,Missense_A274T,Missense_A274T exm37426 1 28476847 [T/C] NM_001164722,NM_001164721,NM_000952,NM_001164723 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_R229Q,Missense_R229Q,Missense_R229Q,Missense_R229Q exm37428 1 28476862 [T/G] NM_001164722,NM_001164721,NM_000952,NM_001164723 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_A224D,Missense_A224D,Missense_A224D,Missense_A224D exm37444 1 28477102 [A/G] NM_001164722,NM_001164721,NM_000952,NM_001164723 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_A144V,Missense_A144V,Missense_A144V,Missense_A144V exm37448 1 28477192 [T/C] NM_001164722,NM_001164721,NM_000952,NM_001164723 PTAFR,PTAFR,PTAFR,PTAFR EXON Missense_N114S,Missense_N114S,Missense_N114S,Missense_N114S rs7518571 1 28551450 [A/G] NM_014280 DNAJC8 Silent 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 rs8559 1 28564252 [A/G] NM_178190,NM_016311,NM_178191 ATPIF1,ATPIF1,ATPIF1 EXON Silent,Silent,Silent exm37501 1 28564279 [A/G] NM_178190,NM_016311,NM_178191 ATPIF1,ATPIF1,ATPIF1 EXON Missense_R63G,Silent,Silent rs9508 1 28564279 [A/G] NM_178190,NM_016311,NM_178191 ATPIF1,ATPIF1,ATPIF1 EXON Missense_R63G,Silent,Silent 1KG_1_28564457 1 28564457 [I/D] NM_178190,NM_016311,NM_178191 ATPIF1,ATPIF1,ATPIF1 EXON rs508772 1 28589578 [T/C] NM_031459 SESN2 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 rs11247766 1 28605319 [A/G] NM_031459 SESN2 Silent exm37579 1 28605706 [A/G] NM_031459 SESN2 EXON Missense_R437Q rs17163135 1 28648893 [T/C] variant.2071 1 28657231 [T/G] NM_017638,NM_001127350 MED18,MED18 EXON Nonsense_E20X,Nonsense_E20X rs10794514 1 28659696 [T/G] NM_017638,NM_001127350 MED18,MED18 Silent,Silent exm37593 1 28660992 [A/G] NM_017638,NM_001127350 MED18,MED18 EXON Missense_M46I,Missense_M46I variant.2072 1 28661041 [T/C] NM_017638,NM_001127350 MED18,MED18 EXON Nonsense_Q63X,Nonsense_Q63X exm37598 1 28661074 [T/C] NM_017638,NM_001127350 MED18,MED18 EXON Missense_R74C,Missense_R74C newrs138328157 1 28661212 [T/G] NM_017638,NM_001127350 MED18,MED18 EXON Nonsense_E120X,Nonsense_E120X exm37609 1 28661225 [A/G] NM_017638,NM_001127350 MED18,MED18 EXON Missense_R124H,Missense_R124H exm37611 1 28661263 [T/C] NM_017638,NM_001127350 MED18,MED18 EXON Missense_R137C,Missense_R137C exm37614 1 28661302 [T/C] NM_017638,NM_001127350 MED18,MED18 EXON Missense_R150C,Missense_R150C exm37619 1 28661383 [A/G] NM_017638,NM_001127350 MED18,MED18 EXON Missense_A177T,Missense_A177T exm1787246 1 28661422 [A/G] NM_017638,NM_001127350 MED18,MED18 EXON Missense_A190T,Missense_A190T rs4908400 1 28690628 [T/C] kgp11982754 1 28733993 [T/G] NM_001048183 PHACTR4 Silent kgp6414103 1 28736113 [T/C] NM_001048183 PHACTR4 Silent 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 indel.2077 1 28785730 [I/D] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON indel.2078 1 28786773 [D/I] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON 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 indel.2079 1 28793280 [I/D] NM_001048183,NM_023923 PHACTR4,PHACTR4 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 variant.2081 1 28816407 [A/G] NM_001048183,NM_023923 PHACTR4,PHACTR4 Silent,Silent exm37708 1 28817495 [T/C] NM_001048183,NM_023923 PHACTR4,PHACTR4 EXON Nonsense_R617X,Nonsense_R627X rs11804512 1 28828893 [T/C] rs16837603 1 28832294 [A/G] rs2840757 1 28832923 [A/C] NR_030725,NM_001048199,NR_002909,NR_030726,NR_036473 RCC1,RCC1,SNHG3,RCC1,SNHG3 Silent,Silent,Silent,Silent,Silent rs2840758 1 28833494 [A/G] NR_030725,NM_001048199,NR_002909,NR_030726,NR_036473 RCC1,RCC1,SNHG3,RCC1,SNHG3 Silent,Silent,Silent,Silent,Silent exm2233134 1 28858447 [T/C] NR_030725,NM_001048199,NR_030726,NM_001048195,NM_001048194,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Missense_V69A,Silent,Missense_V86A,Missense_V100A,Missense_V69A exm37769 1 28861771 [A/G] NR_030725,NM_001048199,NR_030726,NM_001048195,NM_001048194,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Synonymous_G180G,Silent,Synonymous_G197G,Synonymous_G211G,Synonymous_G180G exm2233135 1 28862431 [A/G] NR_030725,NM_001048199,NR_030726,NM_001048195,NM_001048194,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Missense_R237Q,Silent,Missense_R254Q,Missense_R268Q,Missense_R237Q exm37776 1 28862454 [A/G] NR_030725,NM_001048199,NR_030726,NM_001048195,NM_001048194,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Missense_A245T,Silent,Missense_A262T,Missense_A276T,Missense_A245T exm37777 1 28862470 [A/G] NR_030725,NM_001048199,NR_030726,NM_001048195,NM_001048194,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Missense_Y250C,Silent,Missense_Y267C,Missense_Y281C,Missense_Y250C rs10799123 1 28864120 [A/G] NR_030725,NM_001048199,NR_030726,NM_001048195,NM_001048194,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 Silent,Silent,Silent,Silent,Silent,Silent exm37792 1 28864399 [A/T] NR_030725,NM_001048199,NR_030726,NM_001048195,NM_001048194,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Missense_D382E,Silent,Missense_D399E,Missense_D413E,Missense_D382E exm37793 1 28864400 [A/G] NR_030725,NM_001048199,NR_030726,NM_001048195,NM_001048194,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Missense_E383K,Silent,Missense_E400K,Missense_E414K,Missense_E383K 1KG_1_28864489 1 28864489 [I/D] NR_030725,NM_001048199,NR_030726,NM_001048195,NM_001048194,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON exm37800 1 28864508 [T/G] NR_030725,NM_001048199,NR_030726,NM_001048195,NM_001048194,NM_001269 RCC1,RCC1,RCC1,RCC1,RCC1,RCC1 EXON Silent,Nonsense_E419X,Silent,Nonsense_E436X,Nonsense_E450X,Nonsense_E419X rs12090855 1 28874969 [A/G] 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 rs9426442 1 28901455 [A/G] NM_017846,NR_003109 TRNAU1AP,TRNAU1AP Silent,Silent exm37837 1 28904029 [A/G] NM_017846,NR_003109 TRNAU1AP,TRNAU1AP EXON Missense_D249N,Silent variant.2086 1 28906423 [A/C] NR_024127 SNHG12 Silent var_1_28906454 1 28906454 [T/C] NR_024127 SNHG12 EXON Silent exm37864 1 28920448 [A/C] NM_152304,NM_001193532 RAB42,RAB42 EXON Nonsense_S46X,Nonsense_S159X rs34749063 1 28925538 [T/C] 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 kgp3885732 1 28933723 [T/C] NM_001135218,NM_005644 TAF12,TAF12 Silent,Silent kgp4606842 1 28934902 [A/G] NM_001135218,NM_005644 TAF12,TAF12 Silent,Silent rs9426298 1 28990922 [A/G] exm37927 1 29010147 [T/G] NM_024482,NM_006582 GMEB1,GMEB1 EXON Missense_V8G,Missense_V8G rs4654361 1 29013516 [A/G] NM_024482,NM_006582 GMEB1,GMEB1 Silent,Silent exm37946 1 29030767 [A/G] NM_024482,NM_006582 GMEB1,GMEB1 EXON Missense_N265S,Missense_N275S exm37950 1 29037143 [A/G] NM_024482,NM_006582 GMEB1,GMEB1 EXON Missense_Y327C,Missense_Y337C exm37972 1 29041227 [A/G] NM_024482,NM_006582 GMEB1,GMEB1 EXON Missense_E545G,Missense_E555G 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 rs7520756 1 29080166 [T/C] NM_001173128,NM_016258,NM_001172828 YTHDF2,YTHDF2,YTHDF2 Silent,Silent,Silent rs606411 1 29115265 [T/C] rs1338064 1 29123347 [T/C] rs2236861 1 29139756 [A/G] NM_000911 OPRD1 Silent rs6669447 1 29149361 [T/C] NM_000911 OPRD1 Silent rs797397 1 29151183 [A/G] NM_000911 OPRD1 Silent rs4654322 1 29151245 [T/C] NM_000911 OPRD1 Silent rs2236857 1 29161609 [T/C] NM_000911 OPRD1 Silent rs595725 1 29172715 [A/C] NM_000911 OPRD1 Silent rs581111 1 29175373 [A/G] NM_000911 OPRD1 Silent rs12749204 1 29176213 [A/G] NM_000911 OPRD1 Silent 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 rs204069 1 29194818 [A/G] exm2268873 1 29194901 [T/C] rs7511894 1 29200219 [T/C] rs157198 1 29203907 [T/C] rs157208 1 29245406 [T/C] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs12122962 1 29252322 [T/C] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs12038347 1 29268716 [A/G] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs4654381 1 29279387 [A/G] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs10915212 1 29288008 [T/C] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent variant.2094 1 29314190 [T/C] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Nonsense_R81X,Silent,Silent,Silent,Nonsense_R81X,Nonsense_R81X exm38083 1 29314212 [A/G] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_K88R,Silent,Silent,Silent,Missense_K88R,Missense_K88R exm38084 1 29314302 [A/T] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_F118Y,Silent,Silent,Silent,Missense_F118Y,Missense_F118Y indel.2095 1 29314418 [I/D] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 rs2985327 1 29319480 [A/G] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent exm2233142 1 29319893 [A/G] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_E174K,Silent,Silent,Silent,Missense_E174K,Missense_E174K exm38093 1 29320013 [A/G] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_V214I,Missense_V5I,Missense_V5I,Missense_V5I,Missense_V214I,Missense_V214I exm38094 1 29320034 [A/G] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_V221I,Missense_V12I,Missense_V12I,Missense_V12I,Missense_V221I,Missense_V221I exm38103 1 29338416 [T/C] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_R276C,Missense_R67C,Missense_R67C,Missense_R67C,Missense_R241C,Missense_R276C exm38106 1 29342206 [A/G] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_V278I,Missense_V69I,Missense_V69I,Missense_V69I,Missense_V243I,Missense_V278I variant.2096 1 29344823 [A/C] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Nonsense_Y331X,Nonsense_Y122X,Nonsense_Y122X,Nonsense_Y122X,Nonsense_Y296X,Nonsense_Y331X variant.2097 1 29344955 [T/G] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent rs2985334 1 29345027 [T/G] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent exm38116 1 29356970 [A/G] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_M395V,Missense_M186V,Missense_M186V,Missense_M186V,Missense_M360V,Missense_M395V exm38117 1 29356974 [A/G] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_Y396C,Missense_Y187C,Missense_Y187C,Missense_Y187C,Missense_Y361C,Missense_Y396C rs2486200 1 29363985 [T/C] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent,Silent exm38139 1 29379679 [A/G] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_G567D,Missense_G358D,Missense_G358D,Missense_G358D,Missense_G532D,Missense_G567D exm38146 1 29385153 [C/G] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_T633R,Silent,Silent,Missense_T424R,Silent,Missense_T633R exm38147 1 29385350 [A/G] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_I644V,Silent,Silent,Silent,Silent,Silent exm1788336 1 29391585 [A/G] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343,NM_001166006 EPB41,EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_R700Q,Missense_R437Q,Missense_R458Q,Missense_R477Q,Missense_R611Q,Missense_R686Q exm38163 1 29424419 [T/C] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343 EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_T762I,Missense_T499I,Missense_T520I,Missense_T539I,Missense_T673I rs12045777 1 29429004 [T/C] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343 EPB41,EPB41,EPB41,EPB41,EPB41 Silent,Silent,Silent,Silent,Silent exm38169 1 29438907 [T/C] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343 EPB41,EPB41,EPB41,EPB41,EPB41 EXON Missense_R815C,Missense_R552C,Missense_R539C,Missense_R592C,Missense_R726C rs2249138 1 29443723 [A/G] NM_001166005,NM_001166007,NM_004437,NM_203342,NM_203343 EPB41,EPB41,EPB41,EPB41,EPB41 EXON Silent,Silent,Silent,Silent,Silent rs2452788 1 29446811 [A/G] NM_001003682,NM_001171868 TMEM200B,TMEM200B EXON Silent,Silent 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 rs12032470 1 29464954 [A/C] 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 rs10915234 1 29488047 [A/G] NM_005626 SRSF4 Silent 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 variant.2103 1 29528450 [A/G] NM_016011,NM_001024732 MECR,MECR Silent,Silent exm38312 1 29528531 [T/C] NM_016011,NM_001024732 MECR,MECR EXON Missense_R227K,Missense_R151K indel.2105 1 29528534 [D/I] NM_016011,NM_001024732 MECR,MECR EXON 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 rs2452785 1 29533601 [T/C] NM_016011,NM_001024732 MECR,MECR Silent,Silent 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 rs1128400 1 29542637 [A/G] NM_016011,NM_001024732 MECR,MECR EXON Missense_F96L,Missense_F20L rs2640467 1 29556158 [T/C] NM_016011,NM_001024732 MECR,MECR Silent,Silent 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 rs2503011 1 29558468 [T/C] rs7349137 1 29569212 [T/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs2131556 1 29579826 [A/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38360 1 29581894 [T/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R61W,Missense_R61W,Missense_R61W,Missense_R61W exm38361 1 29581895 [A/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R61Q,Missense_R61Q,Missense_R61Q,Missense_R61Q rs4654400 1 29584271 [T/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs12404526 1 29586703 [A/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38399 1 29587158 [A/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R296H,Missense_R296H,Missense_R296H,Missense_R296H exm38406 1 29587407 [A/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_K379T,Missense_K379T,Missense_K379T,Missense_K379T exm38418 1 29602227 [T/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R471L,Missense_R471L,Missense_R471L,Missense_R471L rs10799128 1 29603999 [T/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38429 1 29606010 [A/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_V536M,Missense_V536M,Missense_V536M,Missense_V536M 1KG_1_29606117 1 29606117 [D/I] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON rs4654299 1 29608356 [A/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38447 1 29609217 [A/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R633Q,Missense_R633Q,Missense_R633Q,Missense_R633Q exm38449 1 29609232 [T/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R638L,Missense_R638L,Missense_R638L,Missense_R638L exm38457 1 29609327 [A/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A670T,Missense_A670T,Missense_A670T,Missense_A670T exm38458 1 29609328 [T/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A670V,Missense_A670V,Missense_A670V,Missense_A670V exm38467 1 29611369 [T/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_I769T,Missense_I769T,Missense_I769T,Missense_I769T exm38470 1 29616224 [T/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_P783L,Silent,Silent,Silent exm38477 1 29618454 [T/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R808C,Missense_R798C,Missense_R798C,Missense_R798C exm38478 1 29618470 [A/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_Q813R,Missense_Q803R,Missense_Q803R,Missense_Q803R rs7518159 1 29621460 [T/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent rs6681000 1 29624094 [T/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38492 1 29630478 [T/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A873V,Missense_A863V,Missense_A863V,Missense_A863V exm38518 1 29631909 [A/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_N940S,Missense_N930S,Missense_N930S,Missense_N930S exm38527 1 29638016 [A/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_E979G,Missense_E969G,Missense_E975G,Missense_E969G exm38531 1 29638033 [A/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_V985I,Missense_V975I,Missense_V981I,Missense_V975I exm38532 1 29638036 [T/A] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_M986L,Missense_M976L,Missense_M982L,Missense_M976L exm38533 1 29638037 [T/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_M986R,Missense_M976R,Missense_M982R,Missense_M976R exm38543 1 29639127 [A/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_V1056I,Missense_V1046I,Missense_V1052I,Missense_V1043I exm38546 1 29639166 [T/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R1069C,Missense_R1059C,Missense_R1065C,Missense_R1056C exm38558 1 29642614 [T/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_I1165S,Missense_I1155S,Missense_I1161S,Missense_I1152S exm38566 1 29644279 [T/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_P1188L,Missense_P1178L,Missense_P1184L,Missense_P1175L exm38571 1 29644320 [T/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_R1202W,Missense_R1192W,Missense_R1198W,Missense_R1189W variant.2110 1 29644433 [T/C] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Synonymous_D1239D,Synonymous_D1229D,Synonymous_D1235D,Synonymous_D1226D rs2007350 1 29646127 [T/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU Silent,Silent,Silent,Silent exm38581 1 29647221 [A/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_I1248V,Missense_I1238V,Missense_I1244V,Missense_I1235V exm38608 1 29651740 [A/G] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_A1394T,Missense_A1384T,Missense_A1388T,Missense_A1381T exm38613 1 29652154 [A/T] NM_005704,NM_133178,NM_133177,NM_001195001 PTPRU,PTPRU,PTPRU,PTPRU EXON Missense_E1441V,Missense_E1431V,Missense_E1435V,Missense_E1428V rs7530986 1 29658494 [T/C] rs761430 1 29678774 [A/C] rs1325280 1 29695231 [A/G] rs1886651 1 29707412 [A/G] rs212306 1 29719475 [A/G] rs6671744 1 29732223 [T/G] rs6657309 1 29743408 [A/G] rs1408857 1 29743630 [T/C] rs12085934 1 29753125 [T/G] rs10915271 1 29754510 [A/G] rs7529591 1 29755064 [T/C] rs9426354 1 29763684 [T/C] rs6685390 1 29766120 [A/G] rs7514218 1 29780757 [T/C] rs4654349 1 29781221 [T/C] rs10915285 1 29782051 [A/G] rs4654351 1 29783755 [A/C] rs927727 1 29793205 [A/C] rs9426464 1 29800081 [T/C] rs6694109 1 29801397 [A/C] rs1983855 1 29802337 [A/G] rs4078312 1 29815645 [T/C] rs9426279 1 29835996 [T/C] rs6426343 1 29865107 [T/C] rs6677824 1 29867677 [T/C] exm2264813 1 29868073 [A/G] rs6700641 1 29868073 [A/G] rs6605085 1 29869915 [A/G] kgp3354187 1 29874768 [A/G] kgp883624 1 29875347 [A/G] rs28567981 1 30029261 [T/C] rs28589362 1 30039872 [A/G] rs6603927 1 30064009 [A/G] rs10915035 1 30067017 [A/C] rs9729975 1 30073828 [A/G] rs9725360 1 30078751 [T/C] rs10798895 1 30086662 [A/G] rs271321 1 30098510 [T/G] rs9286945 1 30101569 [T/C] rs271316 1 30102340 [T/G] rs9439752 1 30114164 [T/G] rs271383 1 30120287 [A/C] rs446335 1 30127106 [A/G] exm2264814 1 30133502 [A/G] rs199613 1 30133502 [A/G] rs12122023 1 30143707 [A/G] rs166604 1 30148652 [T/C] rs12564818 1 30155341 [A/G] rs271344 1 30156975 [A/G] rs387232 1 30157559 [T/G] rs12137141 1 30171995 [A/C] rs722497 1 30172044 [T/C] rs1441834 1 30173101 [T/C] rs894220 1 30183014 [A/G] rs4259710 1 30184426 [A/G] rs12118066 1 30185467 [T/C] rs1866967 1 30185662 [A/G] rs4949268 1 30186956 [T/C] rs12125419 1 30204943 [A/C] rs10914266 1 30211197 [A/G] rs10914271 1 30213840 [T/C] rs17262734 1 30225125 [A/C] rs12566608 1 30225137 [T/C] rs16832876 1 30226168 [A/G] rs12045312 1 30234753 [A/G] rs6684453 1 30238984 [T/C] rs12067980 1 30250727 [T/C] rs17262748 1 30257664 [T/C] rs2376727 1 30261280 [T/C] rs7532810 1 30262302 [T/C] rs6691847 1 30265652 [T/C] rs6678054 1 30284674 [A/C] rs4949485 1 30285848 [A/G] rs993245 1 30297793 [T/C] rs12045961 1 30310092 [A/G] rs895786 1 30311124 [T/C] rs921197 1 30319889 [A/G] rs7512834 1 30322046 [T/C] rs6425687 1 30328390 [A/G] rs10914549 1 30332121 [T/C] rs1448339 1 30334824 [T/C] rs10914556 1 30344788 [T/C] rs1448337 1 30349276 [T/C] rs4949509 1 30351529 [T/C] rs10458370 1 30353687 [A/G] rs12083826 1 30365605 [A/C] rs7540340 1 30365857 [A/C] rs11587046 1 30367970 [T/C] rs895796 1 30368883 [T/C] rs752685 1 30369220 [A/G] rs4949230 1 30374868 [A/G] rs10914615 1 30381489 [A/G] rs2084436 1 30382007 [T/C] rs10798921 1 30399109 [A/G] rs198271 1 30399154 [T/C] rs155635 1 30399634 [T/C] rs16833076 1 30414182 [T/G] rs10914662 1 30417143 [A/C] rs11583644 1 30419370 [A/G] rs4949238 1 30422596 [A/G] rs1009080 1 30431560 [A/G] exm-rs4949526 1 30432219 [T/C] exm2264998 1 30437268 [A/G] rs10753284 1 30445050 [T/C] rs267708 1 30445631 [A/G] rs409226 1 30472960 [A/G] rs453149 1 30487342 [T/C] rs1603724 1 30494591 [A/G] rs267720 1 30497242 [T/G] rs7511843 1 30509439 [T/G] rs1391489 1 30522300 [T/C] rs1503772 1 30523923 [A/G] rs372125 1 30528143 [T/C] rs12125183 1 30529226 [A/G] rs391479 1 30530885 [T/C] rs404169 1 30531572 [A/C] rs267660 1 30540710 [T/C] rs1149064 1 30543026 [A/G] rs267667 1 30546997 [A/G] rs267669 1 30548348 [T/C] rs369715 1 30554684 [A/G] rs6661562 1 30562066 [A/G] rs7530417 1 30562263 [A/C] rs16833246 1 30566926 [T/C] exm-rs910696 1 30567596 [A/G] rs1746272 1 30572812 [A/G] rs2076977 1 30574158 [T/C] rs11807362 1 30574413 [A/G] rs2376907 1 30581567 [A/G] rs2376487 1 30610536 [T/G] rs2146850 1 30620480 [T/C] rs7516391 1 30626710 [A/G] exm-rs2180233 1 30627712 [T/C] rs3934202 1 30635302 [A/G] rs10799083 1 30636313 [T/C] rs12142439 1 30636813 [A/G] rs6425865 1 30641610 [A/G] rs6701005 1 30644096 [T/C] rs10493043 1 30645986 [T/C] rs4949549 1 30655669 [T/C] rs7523165 1 30660403 [A/G] rs4245643 1 30661242 [A/G] rs10915040 1 30663554 [A/G] rs4381243 1 30675881 [A/G] rs16833396 1 30687128 [A/C] rs7516871 1 30687376 [A/G] rs762795 1 30690957 [T/C] rs13375139 1 30691713 [T/C] rs909623 1 30706530 [A/G] rs6685389 1 30709585 [A/G] rs12401958 1 30718102 [A/C] rs6657022 1 30720817 [T/C] rs11802750 1 30729050 [A/G] rs7524879 1 30730173 [T/C] rs10158763 1 30731138 [A/G] rs1008196 1 30737443 [A/G] rs12035857 1 30740493 [T/C] rs455494 1 30758928 [A/G] rs463128 1 30759956 [T/C] rs10915065 1 30766091 [A/G] rs390259 1 30775394 [A/G] rs411238 1 30787227 [A/G] rs6672668 1 30787475 [T/C] rs10799096 1 30791516 [T/C] exm2263819 1 30794960 [A/C] rs2007451 1 30799299 [T/C] rs10915081 1 30808141 [A/G] rs453756 1 30809179 [A/C] rs760655 1 30809347 [T/C] rs1023447 1 30819135 [A/G] rs762798 1 30827240 [T/C] rs7552558 1 30830169 [A/G] rs636797 1 30830505 [T/C] rs675696 1 30850174 [T/C] rs6696645 1 30850902 [A/C] rs1887916 1 30858250 [A/C] rs6425970 1 30858705 [A/C] rs4949262 1 30862461 [T/C] rs3867305 1 30873469 [T/G] rs6656216 1 30878285 [T/C] rs650676 1 30885210 [T/C] rs6676701 1 30887732 [A/G] rs12407007 1 30890532 [T/C] exm-rs12407007 1 30890532 [T/C] rs728338 1 30893256 [A/G] rs606404 1 30894160 [T/C] rs6425993 1 30898743 [A/G] rs10915113 1 30898855 [T/C] rs609878 1 30899960 [T/C] rs689303 1 30910090 [T/C] rs657816 1 30919030 [A/G] rs12117449 1 30919378 [T/C] rs593280 1 30920875 [A/G] rs6673363 1 30933736 [T/C] rs262623 1 30933984 [T/C] rs1552319 1 30944362 [A/C] rs12406008 1 30945974 [A/G] rs16833773 1 30960556 [A/G] rs182018 1 30961210 [A/G] rs4949266 1 30962106 [T/C] rs415314 1 30962474 [T/C] rs3104429 1 30985076 [T/C] rs10915140 1 30985651 [T/C] rs12144776 1 30989639 [A/G] rs396648 1 30993005 [T/C] rs7515295 1 31008382 [A/C] rs1994239 1 31010302 [A/G] rs10915150 1 31012257 [T/C] rs9628644 1 31013426 [T/C] rs10915153 1 31017178 [A/G] rs904257 1 31022237 [A/G] rs2377368 1 31024967 [A/G] rs2377367 1 31027917 [T/C] rs3104435 1 31045509 [A/G] rs525813 1 31058914 [T/C] rs610679 1 31061327 [A/G] rs530973 1 31062295 [T/C] rs788871 1 31064203 [T/C] rs4949279 1 31080612 [T/C] rs544789 1 31083478 [A/G] rs666750 1 31086685 [T/G] rs10914158 1 31087850 [A/G] rs7518010 1 31088967 [T/C] rs11589302 1 31099501 [A/G] rs1188414 1 31099929 [T/C] rs1201394 1 31101134 [T/C] rs522294 1 31118741 [A/G] rs2147081 1 31148956 [A/G] rs2700541 1 31151319 [A/C] rs1408151 1 31151452 [T/C] rs1188390 1 31151500 [T/C] rs1188444 1 31164624 [T/C] rs716486 1 31167561 [A/G] rs1033867 1 31167998 [T/C] rs1830705 1 31168219 [T/C] rs1149023 1 31176942 [T/G] rs1149024 1 31177073 [T/C] rs12750278 1 31178663 [T/G] rs7555715 1 31183812 [A/C] rs1188395 1 31184368 [A/G] NM_002379 MATN1 EXON Silent exm38621 1 31187165 [A/G] NM_002379 MATN1 EXON Missense_P457L variant.2112 1 31187999 [T/C] NM_002379 MATN1 Silent 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 rs1149048 1 31198733 [A/G] NR_034182 MATN1-AS1 EXON Silent exm38710 1 31206719 [T/C] NM_006762 LAPTM5 EXON Missense_T249A exm38712 1 31206754 [A/G] NM_006762 LAPTM5 EXON Missense_P237L rs3795437 1 31206806 [T/C] NM_006762 LAPTM5 Silent exm38714 1 31208042 [T/C] NM_006762 LAPTM5 EXON Missense_R226K rs1188357 1 31211282 [T/G] NM_006762 LAPTM5 Silent 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 rs1188347 1 31226340 [T/C] NM_006762 LAPTM5 Silent exm38753 1 31230532 [T/C] NM_006762 LAPTM5 EXON Missense_T21A rs3762297 1 31231680 [T/C] rs4949294 1 31235936 [T/G] rs12124742 1 31239262 [T/C] rs12736883 1 31241312 [A/G] rs878467 1 31247236 [A/C] rs11578558 1 31267335 [A/C] rs10798809 1 31272279 [A/G] rs12038524 1 31286796 [A/G] rs4949309 1 31296585 [T/G] rs746700 1 31297519 [T/C] rs3923872 1 31309717 [A/G] rs12756105 1 31313417 [A/G] rs2488230 1 31320651 [A/G] rs2796210 1 31326201 [A/G] rs2488233 1 31330181 [T/C] rs3935266 1 31330844 [A/G] rs12408228 1 31337417 [A/C] rs4949320 1 31339570 [T/C] rs2488238 1 31344952 [T/C] NM_014654 SDC3 EXON Silent 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 rs12406720 1 31353409 [T/C] NM_014654 SDC3 Silent rs7368024 1 31372509 [A/G] NM_014654 SDC3 Silent rs7514514 1 31408056 [T/C] NM_001020658,NM_014676 PUM1,PUM1 Silent,Silent rs3795433 1 31413972 [T/C] NM_001020658,NM_014676 PUM1,PUM1 Silent,Silent newrs183040257 1 31414838 [A/C] NM_001020658,NM_014676 PUM1,PUM1 Silent,Silent exm38893 1 31422976 [T/C] NM_001020658,NM_014676 PUM1,PUM1 EXON Missense_I952V,Silent rs6672383 1 31424889 [A/G] NM_001020658,NM_014676 PUM1,PUM1 Silent,Silent rs2275741 1 31426815 [A/G] NM_001020658,NM_014676 PUM1,PUM1 EXON Synonymous_N779N,Synonymous_N779N rs6696300 1 31429785 [T/C] NM_001020658,NM_014676 PUM1,PUM1 Silent,Silent exm38929 1 31439065 [T/C] NM_001020658,NM_014676 PUM1,PUM1 EXON Missense_N617S,Missense_N617S exm38947 1 31441312 [G/C] NM_001020658,NM_014676 PUM1,PUM1 EXON Missense_P512A,Missense_P512A exm2251340 1 31441316 [T/C] NM_001020658,NM_014676 PUM1,PUM1 EXON Synonymous_Q510Q,Synonymous_Q510Q exm38950 1 31447545 [T/A] NM_001020658,NM_014676 PUM1,PUM1 EXON Missense_S487T,Missense_S487T exm1791740 1 31454160 [A/G] NM_001020658,NM_014676 PUM1,PUM1 EXON Synonymous_I417I,Synonymous_I417I exm38958 1 31454183 [T/C] NM_001020658,NM_014676 PUM1,PUM1 EXON Missense_A410T,Missense_A410T rs947643 1 31461438 [A/G] NM_001020658,NM_014676 PUM1,PUM1 Silent,Silent exm38964 1 31465377 [T/G] NM_001020658,NM_014676 PUM1,PUM1 EXON Missense_M340L,Missense_M340L exm38966 1 31465505 [T/C] NM_001020658,NM_014676 PUM1,PUM1 EXON Missense_R297H,Missense_R297H exm38971 1 31468066 [T/C] NM_001020658,NM_014676 PUM1,PUM1 EXON Missense_G241D,Missense_G241D variant.2119 1 31479951 [T/C] NM_001020658,NM_014676 PUM1,PUM1 Silent,Silent rs1015099 1 31500659 [T/C] NM_001020658,NM_014676 PUM1,PUM1 Silent,Silent rs6656007 1 31504963 [T/G] NM_001020658,NM_014676 PUM1,PUM1 Silent,Silent exm38985 1 31532110 [T/C] NM_001020658,NM_014676 PUM1,PUM1 EXON Missense_G102S,Missense_G102S exm38986 1 31532151 [T/G] NM_001020658,NM_014676 PUM1,PUM1 EXON Missense_Q88P,Missense_Q88P exm38990 1 31532277 [A/G] NM_001020658,NM_014676 PUM1,PUM1 EXON Missense_A46V,Missense_A46V rs6673049 1 31564030 [A/G] rs6425712 1 31606417 [A/G] rs2185419 1 31606783 [A/C] rs6689678 1 31618766 [T/C] rs2153451 1 31650819 [A/G] 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 rs10798826 1 31669803 [T/C] NM_024522 NKAIN1 Silent rs2377717 1 31673263 [T/C] NM_024522 NKAIN1 Silent rs16834237 1 31680313 [T/C] NM_024522 NKAIN1 Silent rs7549197 1 31681014 [T/C] NM_024522 NKAIN1 Silent exm2263858 1 31681614 [A/C] NM_024522 NKAIN1 Silent rs10798827 1 31682312 [T/G] NM_024522 NKAIN1 Silent rs10753244 1 31683500 [A/G] NM_024522 NKAIN1 Silent rs6680565 1 31687958 [A/G] NM_024522 NKAIN1 Silent rs10914332 1 31699002 [A/G] NM_024522 NKAIN1 Silent rs12087046 1 31700412 [A/G] NM_024522 NKAIN1 Silent rs1107427 1 31701981 [A/G] NM_024522 NKAIN1 Silent rs6701667 1 31707971 [A/C] NM_024522 NKAIN1 Silent rs10493047 1 31741777 [T/C] NM_004814 SNRNP40 Silent variant.2123 1 31742000 [T/C] NM_004814 SNRNP40 Silent rs6425730 1 31747393 [T/C] NM_004814 SNRNP40 Silent exm39044 1 31754270 [T/C] NM_004814 SNRNP40 EXON Missense_N202S variant.2124 1 31766066 [A/G] NM_004814 SNRNP40 EXON Synonymous_L91L exm39061 1 31769528 [A/C] NM_004814 SNRNP40 EXON Missense_L24W exm-rs6679393 1 31770944 [T/C] NM_016505 ZCCHC17 Silent rs10914347 1 31773496 [T/G] NM_016505 ZCCHC17 Silent rs7523438 1 31788313 [A/G] 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 variant.2126 1 31811895 [A/C] NM_016505 ZCCHC17 EXON Missense_E106A variant.2127 1 31811900 [A/G] NM_016505 ZCCHC17 Silent exm2264816 1 31819128 [A/G] NM_016505 ZCCHC17 Silent rs10798845 1 31822636 [A/G] NM_016505 ZCCHC17 Silent indel.2130 1 31838741 [I/D] NM_004102 FABP3 EXON 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 rs10914367 1 31846206 [A/G] rs12562824 1 31854882 [A/G] rs12122184 1 31858784 [T/C] rs6659255 1 31869669 [T/C] rs2889753 1 31871407 [A/G] exm39122 1 31883259 [A/G] NM_001199038,NM_001199037 SERINC2,SERINC2 EXON Missense_E15K,Missense_E10K rs10914375 1 31885859 [A/G] NM_001199038,NM_001199037 SERINC2,SERINC2 Silent,Silent 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 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 rs6661466 1 31907510 [A/G] NM_001199038,NM_001199037,NM_178865,NM_001199039,NM_018565 SERINC2,SERINC2,SERINC2,SERINC2,SERINC2 EXON Silent,Silent,Silent,Silent,Silent rs10798854 1 31934343 [A/G] exm2260174 1 31943343 [T/C] rs4949416 1 31953898 [A/G] rs10798859 1 31955533 [A/G] rs1574104 1 31973440 [A/G] NR_034112 LOC149086 EXON Silent rs10914420 1 31977350 [A/G] rs6684549 1 31982479 [A/C] rs10914430 1 31987662 [A/G] NR_027085 LOC284551 EXON Silent rs10493048 1 31993870 [T/C] rs6662915 1 31995973 [T/C] rs4245634 1 32002287 [T/C] rs6425766 1 32007672 [A/G] rs10798873 1 32009650 [T/G] rs4949441 1 32015974 [A/G] rs6670560 1 32019153 [A/C] rs2377894 1 32031843 [A/G] rs7529327 1 32032752 [A/G] exm39247 1 32042762 [T/C] NM_022164,NM_001204414 TINAGL1,TINAGL1 EXON Missense_P5S,Missense_P5S exm39273 1 32049084 [A/G] NM_022164,NM_001204414,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_A164T,Missense_A133T,Missense_A59T exm39276 1 32049151 [T/C] NM_022164,NM_001204414,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_S186L,Missense_S155L,Missense_S81L exm39281 1 32050289 [A/G] NM_022164,NM_001204414,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_N198S,Missense_N167S,Missense_N93S exm39287 1 32050351 [A/G] NM_022164,NM_001204414,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_E219K,Missense_E188K,Missense_E114K exm39301 1 32050843 [A/G] NM_022164,NM_001204414,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_G317S,Missense_G286S,Missense_G212S exm39312 1 32051421 [A/C] NM_022164,NM_001204414,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_S387R,Missense_S356R,Missense_S282R exm39319 1 32052477 [A/G] NM_022164,NM_001204414,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_R434K,Missense_R403K,Missense_R329K exm39321 1 32052529 [A/C] NM_022164,NM_001204414,NM_001204415 TINAGL1,TINAGL1,TINAGL1 EXON Missense_F451L,Missense_F420L,Missense_F346L rs10914446 1 32054094 [A/C] rs10914453 1 32075036 [A/G] 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 rs10914455 1 32085637 [A/G] NM_001525 HCRTR1 Silent 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 rs2271933 1 32092525 [A/G] NM_001525 HCRTR1 EXON Missense_I408V exm39398 1 32092525 [A/G] NM_001525 HCRTR1 EXON Missense_I408V exm39406 1 32096386 [T/C] NM_012392,NR_033686,NR_033688 PEF1,PEF1,PEF1 EXON Missense_R228H,Silent,Silent exm39411 1 32098120 [T/C] NM_012392,NR_033686,NR_033688 PEF1,PEF1,PEF1 EXON Missense_I201V,Silent,Silent exm39413 1 32098137 [T/C] NM_012392,NR_033686,NR_033688 PEF1,PEF1,PEF1 EXON Missense_R195Q,Silent,Silent exm39424 1 32098910 [T/C] NM_012392,NR_033686,NR_033688 PEF1,PEF1,PEF1 EXON Missense_A111T,Silent,Silent exm39428 1 32100879 [T/C] NM_012392,NR_033686,NR_033688 PEF1,PEF1,PEF1 EXON Missense_Y90C,Silent,Silent exm39439 1 32101060 [T/G] NM_012392,NR_033686,NR_033688 PEF1,PEF1,PEF1 EXON Missense_P30T,Silent,Silent rs7524405 1 32108579 [A/C] NM_012392,NR_033686,NR_033688 PEF1,PEF1,PEF1 Silent,Silent,Silent rs7542583 1 32110813 [A/G] NM_012392,NR_033686 PEF1,PEF1 EXON Silent,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 variant.2154 1 32120417 [A/G] NM_001856 COL16A1 EXON Nonsense_Q1445X 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 rs2271928 1 32127953 [A/G] NM_001856 COL16A1 EXON Synonymous_D1221D 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 rs909002 1 32139635 [T/C] NM_001856 COL16A1 Silent 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 rs2297684 1 32146764 [T/C] NM_001856 COL16A1 Silent 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 rs3818788 1 32158374 [T/C] NM_001856 COL16A1 EXON Synonymous_P369P 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 variant.2174 1 32165414 [T/C] NM_001856 COL16A1 EXON Missense_R89Q exm39726 1 32165463 [T/C] NM_001856 COL16A1 EXON Missense_G73R rs2228552 1 32165495 [T/G] NM_001856 COL16A1 EXON Missense_T62K 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 rs10914472 1 32181220 [T/G] 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 rs3766823 1 32197257 [A/G] NM_001703 BAI2 Silent 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 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 rs6656287 1 32252615 [T/C] 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 newrs144211428 1 32256683 [T/G] NM_144569 SPOCD1 EXON Missense_P1058T variant.2183 1 32256691 [A/G] NM_144569 SPOCD1 EXON Missense_P1055L indel.2184 1 32256751 [I/D] NM_144569 SPOCD1 EXON 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 rs2184202 1 32277199 [A/C] NM_144569 SPOCD1 Silent rs751137 1 32278308 [A/C] NM_144569 SPOCD1 Silent rs6669563 1 32279629 [A/G] NM_144569 SPOCD1 EXON Missense_R436W 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 rs4949473 1 32296525 [T/C] rs11578323 1 32302108 [T/C] rs12565351 1 32311335 [A/C] rs7518553 1 32315147 [T/C] rs12565681 1 32322733 [T/C] rs11805047 1 32336784 [A/G] rs687605 1 32342334 [A/G] rs594540 1 32343368 [T/C] rs597987 1 32347171 [T/C] rs16834765 1 32371442 [T/C] rs639233 1 32372881 [T/C] NM_001195100,NM_001195101,NM_080391 PTP4A2,PTP4A2,PTP4A2 EXON Silent,Silent,Silent indel.2196 1 32374453 [D/I] NM_001195100,NM_001195101,NM_080391 PTP4A2,PTP4A2,PTP4A2 EXON variant.2197 1 32374497 [A/G] NM_001195100,NM_001195101,NM_080391 PTP4A2,PTP4A2,PTP4A2 EXON Nonsense_R129X,Nonsense_R123X,Nonsense_R154X exm2264817 1 32438234 [A/G] kgp2275913 1 32438515 [T/C] rs6662484 1 32497793 [A/G] NM_006559,NM_001271878,NR_073498,NR_073499 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 Silent,Silent,Silent,Silent rs16834840 1 32501043 [T/C] NM_006559,NM_001271878,NR_073498,NR_073499 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 Silent,Silent,Silent,Silent exm40173 1 32502626 [T/C] NM_006559,NM_001271878,NR_073498,NR_073499 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 EXON Missense_P296L,Missense_P257L,Silent,Silent exm40188 1 32508204 [C/G] NM_006559,NM_001271878,NR_073498,NR_073499 KHDRBS1,KHDRBS1,KHDRBS1,KHDRBS1 EXON Missense_E437D,Missense_E398D,Silent,Silent exm40198 1 32542819 [T/C] NM_018056 TMEM39B EXON Missense_R164C rs6672317 1 32554585 [A/G] NM_018056 TMEM39B Silent rs744455 1 32557486 [A/G] NM_018056 TMEM39B EXON Synonymous_S267S 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 kgp10497040 1 32575567 [T/C] NM_012316 KPNA6 Silent 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 rs7538308 1 32627918 [T/C] NM_012316 KPNA6 Silent 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 rs16834926 1 32664866 [A/G] 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 variant.2203 1 32669981 [A/G] NM_024296 CCDC28B Silent 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 var_1_32672109 1 32672109 [A/G] NM_001160042,NM_018134 IQCC,IQCC Silent,Silent 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 newrs138692176 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 variant.2222 1 32680449 [T/C] NM_001099434 DCDC2B EXON Nonsense_R256X 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 variant.2227 1 32682843 [T/G] NM_019118 TMEM234 Silent exm40559 1 32682896 [A/C] NM_019118 TMEM234 EXON Missense_V98F indel.2229 1 32682896 [I/D] NM_019118 TMEM234 EXON indel.2230 1 32682917 [D/I] NM_019118 TMEM234 EXON exm40564 1 32682947 [T/C] NM_019118 TMEM234 EXON Missense_T81A newrs146923152 1 32686800 [T/C] NM_019118 TMEM234 Silent variant.2233 1 32687500 [A/G] NM_019118 TMEM234 EXON Nonsense_Q46X 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 rs669538 1 32711360 [T/C] 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 rs10914540 1 32715821 [A/G] 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 rs11807976 1 32752074 [A/G] newrs145372036 1 32794717 [T/C] NM_004964 HDAC1 EXON Nonsense_R229X variant.2242 1 32797183 [A/G] NM_004964 HDAC1 EXON Missense_K363R 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 rs7532909 1 32826793 [T/C] exm40789 1 32827385 [A/G] NM_001167676 FAM229A EXON Missense_A76V exm40794 1 32828349 [T/C] NM_052841 TSSK3 EXON Missense_I16T indel.2243 1 32828383 [I/D] NM_052841 TSSK3 EXON 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_001143888,NM_001143890,NM_001143889 BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_S418F,Missense_S435F,Missense_S323F,Missense_S362F exm40850 1 32834137 [T/C] NM_018045,NM_001143888,NM_001143890,NM_001143889 BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_I391V,Missense_I408V,Missense_I296V,Missense_I335V exm40865 1 32842319 [T/C] NM_018045,NM_001143888,NM_001143890,NM_001143889 BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_I234V,Missense_I251V,Missense_I139V,Missense_I178V exm40867 1 32843606 [T/C] NM_018045,NM_001143888,NM_001143890,NM_001143889 BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_S214N,Missense_S231N,Missense_S119N,Missense_S158N exm40877 1 32844350 [T/G] NM_018045,NM_001143888,NM_001143890,NM_001143889 BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_S168Y,Missense_S185Y,Missense_S73Y,Missense_S112Y exm40879 1 32846847 [A/G] NM_018045,NM_001143888,NM_001143890,NM_001143889 BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_S127L,Missense_S144L,Missense_S32L,Missense_S71L exm40886 1 32852429 [A/G] NM_018045,NM_001143888,NM_001143890,NM_001143889 BSDC1,BSDC1,BSDC1,BSDC1 EXON Missense_T47M,Missense_T47M,Silent,Missense_T47M rs16834976 1 32868273 [A/G] rs10914555 1 32879586 [T/C] rs11588809 1 32904611 [T/C] rs12144474 1 32913807 [A/G] exm40913 1 32937153 [A/G] NM_001145720 ZBTB8B EXON Missense_G310S exm2251389 1 32950719 [T/C] NM_001145720 ZBTB8B EXON Synonymous_R396R rs12140988 1 32960336 [A/G] exm2251390 1 32975903 [T/G] rs11588497 1 33030461 [A/G] NM_001040441 ZBTB8A Silent rs10914577 1 33034876 [A/G] NM_001040441 ZBTB8A Silent exm40927 1 33058596 [A/G] NM_001040441 ZBTB8A EXON Missense_V22I variant.2251 1 33058707 [T/G] NM_001040441 ZBTB8A EXON Nonsense_E59X var_1_33059115 1 33059115 [T/C] NM_001040441 ZBTB8A EXON Nonsense_Q195X 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 rs6678903 1 33062554 [T/C] NM_001040441 ZBTB8A Silent 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 rs16835041 1 33085244 [A/G] exm40987 1 33099564 [T/C] NM_178547 ZBTB8OS EXON Missense_V90I exm40991 1 33099579 [A/G] NM_178547 ZBTB8OS EXON Missense_L85F rs3954228 1 33100815 [T/C] NM_178547 ZBTB8OS Silent exm41007 1 33116103 [A/C] NM_178547 ZBTB8OS EXON Missense_D22Y indel.2255 1 33116148 [D/I] NM_178547 ZBTB8OS EXON rs389409 1 33116544 [T/C] rs359955 1 33134774 [A/C] NM_005610,NM_001135255,NM_001135256 RBBP4,RBBP4,RBBP4 Silent,Silent,Silent exm2233193 1 33149890 [A/G] NM_005610,NM_001135255,NM_001135256,NM_001161708,NM_030786 RBBP4,RBBP4,RBBP4,SYNC,SYNC EXON Silent,Silent,Silent,Missense_L443F,Missense_L443F variant.2256 1 33160461 [T/C] NM_001161708,NM_030786 SYNC,SYNC Silent,Silent exm41072 1 33160510 [T/C] NM_001161708,NM_030786 SYNC,SYNC EXON Missense_A397T,Missense_A397T exm41073 1 33160526 [T/G] NM_001161708,NM_030786 SYNC,SYNC EXON Missense_N391K,Missense_N391K exm41081 1 33160653 [T/C] NM_001161708,NM_030786 SYNC,SYNC EXON Missense_R349Q,Missense_R349Q exm41089 1 33160878 [T/C] NM_001161708,NM_030786 SYNC,SYNC EXON Missense_R274Q,Missense_R274Q exm41092 1 33160912 [A/G] NM_001161708,NM_030786 SYNC,SYNC EXON Missense_R263C,Missense_R263C exm41095 1 33161113 [A/G] NM_001161708,NM_030786 SYNC,SYNC EXON Missense_L196F,Missense_L196F exm41098 1 33161212 [T/C] NM_001161708,NM_030786 SYNC,SYNC EXON Missense_M163V,Missense_M163V rs419145 1 33179156 [A/G] rs359952 1 33187046 [T/C] rs644879 1 33215380 [T/C] NM_020888 KIAA1522 Silent exm41120 1 33233498 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P116S,Missense_P57S,Missense_P57S exm41129 1 33234254 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_S155F,Missense_S96F,Missense_S96F exm41134 1 33234293 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_C168Y,Missense_C109Y,Missense_C109Y exm1794649 1 33234307 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_S173P,Missense_S114P,Missense_S114P exm41137 1 33234352 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R188C,Missense_R129C,Missense_R129C exm2273629 1 33234353 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R188H,Missense_R129H,Missense_R129H exm41145 1 33235364 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P226L,Silent,Missense_P167L exm41146 1 33235371 [A/T] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_H228Q,Silent,Missense_H169Q exm41149 1 33235495 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R239C,Silent,Missense_R180C exm41157 1 33235651 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_M291V,Silent,Missense_M232V exm41158 1 33235660 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R294C,Silent,Missense_R235C exm41162 1 33235709 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_T310M,Silent,Missense_T251M exm41165 1 33235789 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P337S,Silent,Missense_P278S exm41194 1 33236255 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R492H,Silent,Missense_R433H exm1794682 1 33236285 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R502H,Silent,Missense_R443H exm41204 1 33236483 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R568Q,Silent,Missense_R509Q exm41212 1 33236624 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_R615H,Silent,Missense_R556H exm41221 1 33236845 [A/G] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_A689T,Silent,Missense_A630T exm41231 1 33237266 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P829L,Silent,Missense_P770L exm41237 1 33237346 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P856S,Silent,Missense_P797S exm41239 1 33237358 [T/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P860S,Silent,Missense_P801S exm41251 1 33237659 [G/C] NM_020888,NM_001198973,NM_001198972 KIAA1522,KIAA1522,KIAA1522 EXON Missense_P960R,Silent,Missense_P901R 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 rs1765223 1 33256884 [A/C] NM_003680 YARS Silent rs10914614 1 33257919 [A/G] NM_003680 YARS Silent rs10798918 1 33275981 [T/C] NM_003680 YARS Silent variant.2264 1 33276660 [T/C] NM_003680 YARS Silent 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 rs10914625 1 33298822 [T/G] NM_001256121,NM_022753 S100PBP,S100PBP Silent,Silent exm1795106 1 33330302 [A/G] NM_001171941,NM_153756,NM_001171940 FNDC5,FNDC5,FNDC5 EXON Missense_T124I,Missense_T124I,Silent exm41406 1 33330344 [T/C] NM_001171941,NM_153756,NM_001171940 FNDC5,FNDC5,FNDC5 EXON Missense_N110S,Missense_N110S,Silent exm41407 1 33330377 [T/C] NM_001171941,NM_153756,NM_001171940 FNDC5,FNDC5,FNDC5 EXON Missense_R99H,Missense_R99H,Missense_R99H exm41410 1 33333378 [T/C] NM_001171941,NM_153756,NM_001171940 FNDC5,FNDC5,FNDC5 EXON Missense_V84I,Missense_V84I,Missense_V84I exm41413 1 33333401 [T/C] NM_001171941,NM_153756,NM_001171940 FNDC5,FNDC5,FNDC5 EXON Missense_R76Q,Missense_R76Q,Missense_R76Q exm41420 1 33333953 [T/C] NM_001171941,NM_153756,NM_001171940 FNDC5,FNDC5,FNDC5 EXON Missense_V8M,Missense_V8M,Missense_V8M exm2264818 1 33348442 [A/G] rs11811702 1 33350183 [A/G] variant.2267 1 33359230 [A/G] NM_002143 HPCA EXON Missense_G162S 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 rs8040 1 33402172 [T/C] NM_001127361,NM_153341 RNF19B,RNF19B EXON Silent,Silent indel.2276 1 33402442 [D/I] NM_001127361,NM_153341 RNF19B,RNF19B EXON exm41496 1 33402504 [A/G] NM_001127361,NM_153341 RNF19B,RNF19B EXON Silent,Missense_A701V rs194640 1 33403481 [T/C] NM_001127361,NM_153341 RNF19B,RNF19B Silent,Silent exm41518 1 33407887 [T/C] NM_001127361,NM_153341 RNF19B,RNF19B EXON Missense_G526S,Missense_G527S rs1149128 1 33408138 [T/G] NM_001127361,NM_153341 RNF19B,RNF19B Silent,Silent rs194644 1 33409551 [T/C] NM_001127361,NM_153341 RNF19B,RNF19B Silent,Silent 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 rs1534893 1 33472942 [A/G] variant.2280 1 33478803 [T/G] NM_001199199,NR_037591,NM_013411,NM_001625,NR_037592 AK2,AK2,AK2,AK2,AK2 EXON Silent,Silent,Silent,Missense_K233N,Silent exm41567 1 33478841 [T/C] NM_001199199,NR_037591,NM_013411,NM_001625,NR_037592 AK2,AK2,AK2,AK2,AK2 EXON Missense_A213T,Silent,Missense_A221T,Missense_A221T,Silent var_1_33479005 1 33479005 [T/C] NM_001199199,NR_037591,NM_013411,NM_001625,NR_037592 AK2,AK2,AK2,AK2,AK2 Silent,Silent,Silent,Silent,Silent exm41601 1 33480161 [T/C] NM_001199199,NR_037591,NM_013411,NM_001625,NR_037592 AK2,AK2,AK2,AK2,AK2 EXON Missense_E146K,Silent,Missense_E154K,Missense_E154K,Silent exm41604 1 33487007 [T/C] NM_001199199,NR_037591,NM_013411,NM_001625,NR_037592 AK2,AK2,AK2,AK2,AK2 EXON Missense_S129N,Silent,Missense_S129N,Missense_S129N,Silent exm41606 1 33487277 [T/C] NM_001199199,NR_037591,NM_013411,NM_001625,NR_037592 AK2,AK2,AK2,AK2,AK2 EXON Missense_I83V,Silent,Missense_I83V,Missense_I83V,Silent exm41608 1 33487300 [A/C] NM_001199199,NR_037591,NM_013411,NM_001625,NR_037592 AK2,AK2,AK2,AK2,AK2 EXON Missense_S75I,Silent,Missense_S75I,Missense_S75I,Silent rs10753271 1 33496639 [T/C] NM_001199199,NR_037591,NM_013411,NM_001625,NR_037592 AK2,AK2,AK2,AK2,AK2 Silent,Silent,Silent,Silent,Silent rs11811191 1 33536944 [T/C] rs3863724 1 33540443 [A/G] rs10429857 1 33543052 [A/G] 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 rs689187 1 33611890 [T/C] NM_018207 TRIM62 EXON Silent rs3766813 1 33612508 [A/G] NM_018207 TRIM62 EXON Silent 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 rs3912145 1 33614162 [T/C] NM_018207 TRIM62 Silent 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 rs622407 1 33646950 [A/G] NM_018207 TRIM62 EXON Synonymous_H28H rs1498319 1 33684101 [T/C] rs12045968 1 33690698 [T/G] rs7540951 1 33694810 [T/C] rs7534724 1 33710429 [A/G] rs1566230 1 33719642 [T/C] rs10914671 1 33723652 [T/C] NM_152493 ZNF362 Silent exm41806 1 33745781 [A/G] NM_152493 ZNF362 EXON Missense_A136T exm41812 1 33745937 [G/C] NM_152493 ZNF362 EXON Missense_P188A rs10914677 1 33749027 [A/G] NM_152493 ZNF362 Silent exm41834 1 33764585 [A/G] NM_152493 ZNF362 EXON Missense_S401G exm41836 1 33764618 [A/G] NM_152493 ZNF362 EXON Missense_G412S rs4653002 1 33770526 [T/C] rs4653015 1 33776431 [T/C] rs7264 1 33789382 [T/C] NM_004427,NM_198040 PHC2,PHC2 EXON Silent,Silent variant.2294 1 33794530 [A/G] NM_004427,NM_198040 PHC2,PHC2 EXON Missense_P253L,Missense_P788L exm41909 1 33794564 [A/G] NM_004427,NM_198040 PHC2,PHC2 EXON Missense_R242W,Missense_R777W rs16835363 1 33795053 [T/C] NM_004427,NM_198040 PHC2,PHC2 Silent,Silent exm2251422 1 33796081 [A/C] NM_004427,NM_198040 PHC2,PHC2 Silent,Silent rs4361958 1 33796554 [A/G] NM_004427,NM_198040 PHC2,PHC2 Silent,Silent exm41947 1 33799858 [A/G] NM_004427,NM_198040 PHC2,PHC2 EXON Silent,Missense_L531F rs4233199 1 33819562 [T/C] NM_198040 PHC2 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 rs6425816 1 33832865 [A/G] NM_198040 PHC2 EXON Synonymous_P276P 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 rs12127097 1 33850890 [T/C] rs1535917 1 33861853 [A/G] rs12137943 1 33867447 [A/C] rs6661037 1 33872593 [T/C] rs6663355 1 33877808 [T/C] rs10914706 1 33886888 [A/C] rs10914716 1 33905230 [T/C] rs10914731 1 33934824 [A/G] rs6425820 1 33936347 [T/C] 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 rs7531293 1 33947467 [T/C] NM_145238 ZSCAN20 Silent 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 rs3795419 1 33957130 [A/C] NM_145238 ZSCAN20 EXON Synonymous_A424A exm42100 1 33957140 [A/C] NM_145238 ZSCAN20 EXON Missense_P428T exm42103 1 33957152 [T/G] NM_145238 ZSCAN20 EXON Missense_Y432D rs9662260 1 33957773 [T/C] NM_145238 ZSCAN20 Silent 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 rs2131776 1 33984970 [T/G] NM_052896 CSMD2 Silent 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 rs10798962 1 33993669 [A/G] NM_052896 CSMD2 Silent 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 rs923879 1 33999809 [A/G] NM_052896 CSMD2 Silent exm42222 1 34003089 [T/C] NM_052896 CSMD2 EXON Missense_R3107H exm1796277 1 34003176 [T/C] NM_052896 CSMD2 EXON Missense_R3078H rs12729472 1 34004912 [A/G] NM_052896 CSMD2 Silent 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 rs2794606 1 34019467 [A/G] NM_052896 CSMD2 Silent rs933044 1 34026479 [A/G] NM_052896 CSMD2 Silent rs923882 1 34029070 [T/G] NM_052896 CSMD2 Silent rs1493994 1 34030514 [T/C] NM_052896 CSMD2 Silent exm42272 1 34033273 [C/G] NM_052896 CSMD2 EXON Missense_A2744G exm42277 1 34033352 [A/T] NM_052896 CSMD2 EXON Missense_T2718S rs5007951 1 34034649 [A/G] NM_052896 CSMD2 Silent 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 rs10914746 1 34039844 [A/G] NM_052896 CSMD2 Silent rs16835617 1 34042245 [A/C] NM_052896 CSMD2 Silent rs729176 1 34042560 [A/G] NM_052896 CSMD2 Silent exm42308 1 34042937 [T/C] NM_052896 CSMD2 EXON Missense_Q2514R newrs142035256 1 34043086 [T/C] NM_052896 CSMD2 Silent rs292809 1 34046066 [A/G] NM_052896 CSMD2 Silent exm42315 1 34046406 [T/C] NM_052896 CSMD2 EXON Missense_R2447H rs11586497 1 34051242 [T/C] NM_052896 CSMD2 Silent rs721306 1 34051436 [T/C] NM_052896 CSMD2 Silent exm42323 1 34052119 [A/G] NM_052896 CSMD2 EXON Missense_P2348S exm42329 1 34052721 [T/C] NM_052896 CSMD2 EXON Missense_E2304K rs2781790 1 34054862 [T/C] NM_052896 CSMD2 Silent 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 rs1874045 1 34071525 [T/C] NM_052896 CSMD2 EXON Missense_R2096K 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 variant.2308 1 34080099 [T/C] NM_052896 CSMD2 Silent exm42397 1 34080121 [A/G] NM_052896 CSMD2 EXON Missense_A1999V rs10914755 1 34082279 [A/G] NM_052896 CSMD2 Silent 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 rs649214 1 34150551 [T/C] NM_052896 CSMD2 Silent 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 rs609347 1 34166626 [A/G] NM_052896 CSMD2 Silent exm42518 1 34174789 [T/C] NM_052896 CSMD2 EXON Missense_N1119S rs10914766 1 34175928 [A/G] NM_052896 CSMD2 Silent rs10914767 1 34177600 [T/C] NM_052896 CSMD2 Silent rs565953 1 34178508 [T/C] NM_052896 CSMD2 Silent exm42526 1 34180264 [T/C] NM_052896 CSMD2 EXON Missense_R1070H rs16835742 1 34180842 [T/G] NM_052896 CSMD2 Silent rs7533254 1 34181830 [A/G] NM_052896 CSMD2 Silent rs528059 1 34186193 [T/C] NM_052896 CSMD2 Silent rs544991 1 34189429 [T/C] NM_052896 CSMD2 Silent rs667892 1 34189552 [T/C] NM_052896 CSMD2 Silent 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 rs652391 1 34202162 [A/G] NM_052896 CSMD2 Silent exm42576 1 34204887 [T/C] NM_052896 CSMD2 EXON Missense_K701R rs481776 1 34205859 [A/G] NM_052896 CSMD2 Silent exm2268876 1 34208399 [T/G] NM_052896 CSMD2 Silent exm42585 1 34209004 [T/C] NM_052896 CSMD2 EXON Missense_V644I rs4578181 1 34210532 [A/G] NM_052896 CSMD2 Silent rs6682875 1 34213109 [A/G] NM_052896 CSMD2 Silent rs989661 1 34217931 [T/C] NM_052896 CSMD2 Silent exm42603 1 34238283 [T/C] NM_052896 CSMD2 EXON Missense_H538R rs474474 1 34238283 [T/C] NM_052896 CSMD2 EXON Missense_H538R rs479938 1 34238852 [A/G] NM_052896 CSMD2 Silent exm-rs476463 1 34248064 [A/G] NM_052896 CSMD2 Silent rs9887778 1 34250957 [T/C] NM_052896 CSMD2 Silent rs12133088 1 34251481 [T/C] 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 rs12408037 1 34270187 [T/C] NM_052896 CSMD2 Silent rs10737374 1 34270498 [A/G] NM_052896 CSMD2 Silent exm42630 1 34276432 [A/G] NM_052896 CSMD2 EXON Missense_S413L rs3845473 1 34282691 [A/G] NM_052896 CSMD2 Silent exm42638 1 34286107 [T/C] NM_052896 CSMD2 EXON Missense_I348V rs2281595 1 34287512 [T/C] NM_052896 CSMD2 Silent rs12096149 1 34288935 [A/C] NM_052896 CSMD2 Silent exm42648 1 34291367 [T/G] NM_052896 CSMD2 EXON Missense_Q308K rs1321623 1 34306705 [A/G] NM_052896 CSMD2 Silent rs2180745 1 34313983 [T/C] NM_052896 CSMD2 Silent rs753893 1 34322237 [T/G] NM_052896 CSMD2 Silent rs1158145 1 34323487 [T/C] NM_052896 CSMD2 Silent 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 rs10914802 1 34345249 [T/C] NM_052896,NR_038372 CSMD2,LOC402779 Silent,Silent rs12058145 1 34347846 [A/G] NM_052896,NR_038372 CSMD2,LOC402779 Silent,Silent rs10799004 1 34358476 [T/C] NM_052896 CSMD2 Silent exm-rs2281597 1 34359858 [C/G] NM_052896 CSMD2 Silent rs10799006 1 34362665 [A/G] NM_052896 CSMD2 Silent rs7528354 1 34366411 [T/C] NM_052896 CSMD2 Silent rs1570089 1 34369245 [T/C] NM_052896 CSMD2 Silent exm2264819 1 34372503 [A/G] NM_052896 CSMD2 Silent rs911216 1 34375199 [A/C] NM_052896 CSMD2 Silent rs7533958 1 34382423 [T/C] 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 rs513617 1 34413398 [T/C] NM_052896 CSMD2 Silent rs504471 1 34418942 [A/G] NM_052896 CSMD2 Silent rs12128266 1 34432484 [T/C] NM_052896 CSMD2 Silent rs6663957 1 34437596 [T/C] NM_052896 CSMD2 Silent rs502199 1 34438881 [A/G] NM_052896 CSMD2 Silent rs749733 1 34443688 [A/G] NM_052896 CSMD2 Silent rs4408120 1 34446139 [A/G] NM_052896 CSMD2 Silent rs520226 1 34456109 [A/G] NM_052896 CSMD2 Silent rs533861 1 34463451 [A/C] NM_052896 CSMD2 Silent rs487472 1 34470308 [A/G] NM_052896 CSMD2 Silent rs1325258 1 34477581 [A/G] NM_052896 CSMD2 Silent rs2358756 1 34479922 [T/C] NM_052896 CSMD2 Silent rs1465782 1 34488578 [A/G] NM_052896 CSMD2 Silent rs12562296 1 34489758 [A/G] NM_052896 CSMD2 Silent rs10914850 1 34496094 [T/C] NM_052896 CSMD2 Silent rs2625684 1 34505115 [T/C] NM_052896 CSMD2 Silent rs899378 1 34515330 [T/C] NM_052896 CSMD2 Silent rs6425872 1 34524849 [A/G] NM_052896 CSMD2 Silent rs6700561 1 34525105 [T/C] NM_052896 CSMD2 Silent rs9425986 1 34541724 [T/C] NM_052896 CSMD2 Silent exm42719 1 34554603 [G/C] NM_052896 CSMD2 EXON Missense_P87A exm42722 1 34554680 [T/C] NM_052896 CSMD2 EXON Missense_Q61R rs6665353 1 34564936 [A/G] NM_052896 CSMD2 Silent rs1382600 1 34574691 [T/C] NM_052896 CSMD2 Silent rs11581276 1 34586161 [T/C] NM_052896 CSMD2 Silent rs7551988 1 34590285 [T/C] NM_052896 CSMD2 Silent rs771150 1 34606984 [T/C] NM_052896 CSMD2 Silent rs12755908 1 34617256 [T/C] NM_052896 CSMD2 Silent rs10914880 1 34620770 [T/C] NM_052896 CSMD2 Silent rs7552457 1 34625898 [A/C] NM_052896 CSMD2 Silent exm42736 1 34631356 [A/C] NM_052896 CSMD2 EXON Missense_R20I rs1771365 1 34659156 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent 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 rs3795412 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 rs297804 1 34671355 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs13375367 1 34672699 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs297802 1 34674814 [T/C] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent 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 rs4652997 1 34679066 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 Silent,Silent rs705207 1 34684463 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Silent rs1061074 1 34684621 [A/G] NM_032884,NM_001134734 C1orf94,C1orf94 EXON Silent,Silent rs12043879 1 34686130 [A/C] rs1414472 1 34697488 [A/G] rs2795634 1 34714693 [T/C] rs771410 1 34723163 [A/G] rs771404 1 34726167 [A/G] rs771400 1 34727902 [A/G] rs10914896 1 34735938 [A/G] rs1414470 1 34736287 [A/G] rs6677202 1 34748645 [T/C] rs6704508 1 34756509 [T/G] rs1404350 1 34764974 [A/C] rs12130968 1 34790866 [T/G] rs10914915 1 34796092 [A/G] rs1342160 1 34804499 [A/G] rs4652836 1 34806304 [T/C] rs10799047 1 34809587 [A/C] rs2049420 1 34823560 [A/G] rs7537783 1 34830640 [T/C] rs1736476 1 34835180 [T/G] rs705203 1 34839501 [T/C] rs17380703 1 34844208 [T/C] rs705197 1 34844836 [A/G] rs2092028 1 34872737 [A/G] rs7530700 1 34879050 [T/C] rs6693232 1 34883744 [T/C] rs17385253 1 34895009 [T/C] rs7533470 1 34896603 [A/G] rs2142534 1 34900172 [A/G] rs4653032 1 34902910 [A/C] rs10753308 1 34907148 [A/G] rs10914953 1 34919266 [T/C] rs2075933 1 34921075 [T/C] rs4653037 1 34922823 [T/C] rs7544781 1 34928441 [T/C] rs798075 1 34936992 [T/C] rs3845483 1 34962846 [A/G] rs4652841 1 34967241 [A/G] rs6694043 1 34982041 [A/G] rs4653052 1 34992037 [A/C] rs4595337 1 34995974 [A/G] rs10737381 1 34996413 [T/C] rs12136079 1 35013586 [A/G] rs6425900 1 35029632 [A/G] exm2251474 1 35049252 [A/G] rs10914983 1 35049332 [A/G] rs12074036 1 35050334 [A/C] rs728447 1 35058148 [A/C] rs7528705 1 35065969 [T/G] rs6695510 1 35085870 [A/G] rs4653067 1 35088484 [A/C] rs2093880 1 35093593 [T/G] rs6425904 1 35094871 [A/G] rs7548924 1 35095368 [T/C] rs10914996 1 35095609 [A/G] rs12132123 1 35095652 [A/C] rs12140922 1 35114647 [A/C] rs10915010 1 35122523 [T/C] rs912537 1 35127074 [A/G] rs1177663 1 35152490 [T/C] rs12136236 1 35159799 [T/C] rs4320749 1 35161802 [A/G] rs1336625 1 35162901 [T/G] rs17473524 1 35170315 [T/C] rs684524 1 35183638 [A/G] rs10489658 1 35185845 [T/C] rs9426007 1 35208698 [T/C] rs692923 1 35218077 [T/C] 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 rs3738345 1 35223345 [A/G] NM_005268 GJB5 EXON Synonymous_K138K 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 rs2093185 1 35224312 [T/G] 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 rs639126 1 35239992 [T/C] rs1764405 1 35246297 [A/G] 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 indel.2346 1 35250784 [I/D] NM_024009,NM_001005752 GJB3,GJB3 EXON 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 rs483721 1 35253376 [T/C] rs4653091 1 35257416 [A/G] exm43084 1 35260202 [A/G] NM_002060 GJA4 EXON Missense_V130I exm43100 1 35260527 [A/G] NM_002060 GJA4 EXON Missense_R238Q 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 rs564226 1 35265770 [T/G] rs1407135 1 35282297 [A/G] rs7526035 1 35289039 [A/G] rs6689081 1 35301579 [T/C] rs11264125 1 35302617 [T/C] rs11264139 1 35303369 [A/G] rs12239410 1 35304381 [A/C] exm43164 1 35334283 [T/C] NM_001080418 DLGAP3 EXON Missense_R803Q rs11264126 1 35342095 [A/G] NM_001080418 DLGAP3 Silent exm43213 1 35351706 [T/G] NM_001080418 DLGAP3 EXON Missense_T523P rs6662980 1 35360078 [A/G] NM_001080418 DLGAP3 Silent 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 rs4652869 1 35378934 [T/G] rs6694435 1 35379119 [T/C] exm2268877 1 35384605 [T/C] rs10437318 1 35403677 [A/C] rs11263859 1 35428428 [T/G] rs4072108 1 35444037 [T/C] NR_037869 LOC653160 Silent exm43298 1 35447598 [C/G] NM_001195156 ZMYM6NB EXON Missense_V138L rs6688091 1 35451539 [A/C] exm43329 1 35453651 [A/C] NM_007167 ZMYM6 EXON Missense_F1011C exm43335 1 35453771 [T/G] NM_007167 ZMYM6 EXON Missense_N971T variant.2362 1 35453952 [A/G] NM_007167 ZMYM6 EXON Nonsense_Q911X 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 variant.2363 1 35470728 [A/C] NM_007167 ZMYM6 Silent exm43368 1 35470798 [T/C] NM_007167 ZMYM6 EXON Missense_S630N exm43374 1 35472659 [G/C] NM_007167 ZMYM6 EXON Missense_S569T variant.2364 1 35472675 [A/G] NM_007167 ZMYM6 EXON Nonsense_R564X 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 variant.2366 1 35496192 [A/G] NM_007167 ZMYM6 EXON Nonsense_Q17X kgp11705169 1 35497529 [A/G] NM_007167 ZMYM6 EXON Silent kgp15841491 1 35503107 [T/G] rs6425930 1 35556013 [A/G] NM_024772 ZMYM1 Silent exm43448 1 35559598 [A/C] NM_024772 ZMYM1 EXON Missense_P4T variant.2367 1 35559685 [A/G] NM_024772 ZMYM1 Silent var_1_35561494 1 35561494 [T/C] NM_024772 ZMYM1 Silent exm43457 1 35562965 [A/G] NM_024772 ZMYM1 EXON Missense_V73M rs2971408 1 35562965 [A/G] NM_024772 ZMYM1 EXON Missense_V73M indel.2370 1 35570346 [I/D] NM_024772 ZMYM1 EXON rs4411101 1 35571417 [A/G] NM_024772 ZMYM1 Silent 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 variant.2375 1 35580819 [T/G] NM_024772 ZMYM1 EXON Nonsense_E1130X exm43553 1 35580837 [A/G] NM_024772 ZMYM1 EXON Missense_I1136V rs6425939 1 35628789 [A/G] rs12064550 1 35635453 [A/C] exm2264999 1 35636227 [A/G] rs9783066 1 35644484 [T/C] rs10493066 1 35646125 [T/C] rs3738694 1 35648316 [T/C] exm43561 1 35652634 [T/C] NM_005066 SFPQ EXON Missense_T652A exm-rs11264115 1 35656664 [A/G] NM_005066 SFPQ Silent rs7543044 1 35674311 [A/G] exm-rs673604 1 35687815 [T/C] rs673604 1 35687815 [T/C] rs593461 1 35709777 [A/G] rs522821 1 35741663 [A/G] NM_005095 ZMYM4 Silent rs10908390 1 35743797 [A/G] NM_005095 ZMYM4 Silent rs544621 1 35772867 [A/C] NM_005095 ZMYM4 Silent rs12075713 1 35776603 [T/G] NM_005095 ZMYM4 Silent 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 indel.2376 1 35854643 [D/I] NM_005095 ZMYM4 EXON 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 rs12040345 1 35864571 [A/G] NM_005095 ZMYM4 EXON Synonymous_Q1120Q 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 rs10157108 1 35900725 [A/C] NM_024874 KIAA0319L Silent exm43870 1 35907899 [T/C] NM_024874 KIAA0319L EXON Missense_I940V rs2275247 1 35908451 [T/C] NM_024874 KIAA0319L Silent variant.2379 1 35909762 [T/C] NM_024874 KIAA0319L EXON Missense_T886A 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 rs12563006 1 35919461 [T/G] NM_024874 KIAA0319L Silent variant.2381 1 35928313 [T/C] NM_024874 KIAA0319L EXON Synonymous_E401E 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 rs11264164 1 35966914 [T/C] NM_024874 KIAA0319L Silent 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_014284,NM_001014841,NM_001014839 NCDN,NCDN,NCDN EXON Missense_A9V,Silent,Missense_A9V exm43990 1 36026317 [A/G] NM_014284,NM_001014841,NM_001014839 NCDN,NCDN,NCDN EXON Missense_G189S,Missense_G172S,Missense_G189S exm43999 1 36026509 [A/G] NM_014284,NM_001014841,NM_001014839 NCDN,NCDN,NCDN EXON Missense_V253M,Missense_V236M,Missense_V253M exm2233264 1 36026749 [T/G] NM_014284,NM_001014841,NM_001014839 NCDN,NCDN,NCDN EXON Missense_V333L,Missense_V316L,Missense_V333L exm44009 1 36026872 [T/G] NM_014284,NM_001014841,NM_001014839 NCDN,NCDN,NCDN EXON Missense_A374S,Missense_A357S,Missense_A374S exm44012 1 36028198 [T/C] NM_014284,NM_001014841,NM_001014839 NCDN,NCDN,NCDN EXON Missense_T450I,Missense_T433I,Missense_T450I exm44036 1 36030912 [T/C] NM_014284,NM_001014841,NM_001014839 NCDN,NCDN,NCDN EXON Missense_P613L,Missense_P596L,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_001199780,NM_002794,NM_001199779 PSMB2,PSMB2,PSMB2 EXON Missense_S84Y,Missense_S201Y,Missense_S176Y rs10489761 1 36069746 [T/C] NM_001199780,NM_002794,NM_001199779 PSMB2,PSMB2,PSMB2 Silent,Silent,Silent exm44137 1 36074906 [A/G] NM_001199780,NM_002794,NM_001199779 PSMB2,PSMB2,PSMB2 EXON Missense_A13V,Missense_A130V,Missense_A105V exm44140 1 36074927 [A/G] NM_001199780,NM_002794,NM_001199779 PSMB2,PSMB2,PSMB2 EXON Missense_A6V,Missense_A123V,Missense_A98V rs10908401 1 36082395 [A/C] NM_001199780,NM_002794,NM_001199779 PSMB2,PSMB2,PSMB2 Silent,Silent,Silent rs10908402 1 36095920 [T/C] NM_001199780,NM_002794,NM_001199779 PSMB2,PSMB2,PSMB2 Silent,Silent,Silent rs534436 1 36115139 [A/G] rs7367713 1 36156432 [T/C] rs12563583 1 36167456 [A/C] 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 rs6425954 1 36197297 [T/C] variant.2396 1 36202126 [A/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Nonsense_R1331X,Nonsense_R1267X variant.2397 1 36202510 [T/C] NM_022111,NM_001190481 CLSPN,CLSPN Silent,Silent 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 indel.2398 1 36204966 [I/D] NM_022111,NM_001190481 CLSPN,CLSPN EXON exm1799107 1 36208757 [T/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Missense_K1043T,Missense_K979T variant.2400 1 36211145 [T/G] NM_022111,NM_001190481 CLSPN,CLSPN EXON Nonsense_S958X,Nonsense_S894X 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 rs10908410 1 36242028 [A/G] rs12044203 1 36276399 [T/C] NM_017629 AGO4 Silent rs727005 1 36281336 [A/G] NM_017629 AGO4 Silent indel.2402 1 36291075 [I/D] NM_017629 AGO4 EXON 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 variant.2403 1 36298080 [T/C] NM_017629 AGO4 EXON Nonsense_R430X exm44393 1 36299761 [A/G] NM_017629 AGO4 EXON Missense_K517R variant.2404 1 36299775 [T/G] NM_017629 AGO4 EXON Missense_A522S indel.2406 1 36301525 [I/D] NM_017629 AGO4 EXON 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 rs636832 1 36363475 [A/G] NM_012199 AGO1 Silent exm44475 1 36380971 [A/C] NM_012199 AGO1 EXON Missense_H619P rs11263835 1 36381622 [T/C] NM_012199 AGO1 Silent rs3738356 1 36383716 [T/C] NM_012199 AGO1 Silent exm1799256 1 36432651 [A/G] NM_024852,NM_177422 AGO3,AGO3 EXON Missense_N96S,Silent rs614235 1 36450565 [A/G] NM_024852,NM_177422 AGO3,AGO3 Silent,Silent variant.2411 1 36474378 [T/C] NM_024852,NM_177422 AGO3,AGO3 EXON Missense_T294I,Missense_T60I 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 rs491603 1 36532316 [T/C] rs12034450 1 36548997 [A/G] rs3754076 1 36549157 [A/G] 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 variant.2412 1 36550772 [A/G] NM_014466 TEKT2 EXON Nonsense_W55X 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 indel.2413 1 36550884 [D/I] NM_014466 TEKT2 EXON 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 variant.2421 1 36552804 [A/G] NM_014466 TEKT2 Silent exm44640 1 36552858 [T/G] NM_014466 TEKT2 EXON Missense_K267N exm1799351 1 36552901 [A/C] NM_014466 TEKT2 EXON Missense_Q282K variant.2422 1 36552917 [A/G] NM_014466 TEKT2 Silent 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 rs3767703 1 36555758 [T/C] NM_017825 ADPRHL2 Silent 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 rs274754 1 36565617 [A/G] NM_005202 COL8A2 Silent 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] rs274132 1 36581978 [T/C] rs4653160 1 36599547 [T/C] rs1408558 1 36601717 [A/C] exm44848 1 36603427 [A/C] NR_073098,NM_001270897,NM_001270896,NM_001270895,NM_014408,NR_073097,NM_001270894 TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3,TRAPPC3 EXON Silent,Missense_L65F,Missense_L85F,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 rs795047 1 36637708 [A/G] NM_018067 MAP7D1 Silent 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 rs272817 1 36646491 [A/G] rs11812037 1 36652619 [T/C] rs6680302 1 36653540 [A/G] rs522468 1 36653677 [T/G] kgp5651257 1 36653717 [A/G] rs11263868 1 36715732 [T/C] NM_005119 THRAP3 Silent exm44995 1 36748237 [T/C] NM_005119 THRAP3 EXON Missense_R25C rs6425977 1 36752433 [T/C] NM_005119 THRAP3 EXON Missense_A201V 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 variant.2437 1 36759541 [A/G] NM_005119 THRAP3 Silent exm2265000 1 36764770 [A/G] NM_005119 THRAP3 Silent rs9659735 1 36765912 [T/C] 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 variant.2448 1 36786194 [T/G] NM_001162530,NM_024676 SH3D21,SH3D21 EXON Nonsense_E644X,Nonsense_E533X 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 rs12116935 1 36789546 [A/G] NM_018166 EVA1B EXON Silent 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 rs4653185 1 36861854 [A/C] NM_032881 LSM10 Silent rs6696875 1 36867363 [T/C] rs16822823 1 36874242 [A/G] rs883805 1 36878024 [A/C] variant.2454 1 36884587 [T/C] NM_145047 OSCP1 Silent 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 indel.2456 1 36893953 [I/D] NM_145047,NM_206837 OSCP1,OSCP1 EXON 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 rs6696986 1 36897803 [A/G] NM_145047,NM_206837 OSCP1,OSCP1 Silent,Silent 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 rs953517 1 36910277 [T/C] NM_145047,NM_206837 OSCP1,OSCP1 Silent,Silent exm45392 1 36915872 [T/G] NM_145047,NM_206837 OSCP1,OSCP1 EXON Missense_D33E,Missense_D33E rs1538634 1 36921371 [T/G] NM_031280 MRPS15 EXON Silent 1KG_1_36921845 1 36921845 [D/I] NM_031280 MRPS15 EXON 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 variant.2466 1 36926296 [A/G] NM_031280 MRPS15 EXON Nonsense_R128X exm45429 1 36926868 [C/G] NM_031280 MRPS15 EXON Missense_N99K exm45438 1 36927735 [A/G] NM_031280 MRPS15 EXON Missense_P69S rs3806289 1 36929988 [T/C] NM_031280 MRPS15 EXON Silent exm2251528 1 36931973 [T/C] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Silent,Synonymous_A832A,Synonymous_A859A exm45461 1 36931973 [T/C] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Silent,Synonymous_A832A,Synonymous_A859A exm45466 1 36932047 [T/C] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Silent,Missense_E808K,Missense_E835K exm45467 1 36932062 [A/G] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Silent,Missense_P803S,Missense_P830S exm1799683 1 36932272 [T/G] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_P733T,Missense_P733T,Missense_P760T exm45481 1 36932463 [A/G] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Silent,Silent,Missense_M696T exm45484 1 36932503 [T/C] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Silent,Silent,Missense_G683R exm45489 1 36933198 [A/G] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_T640I,Missense_T640I,Missense_T640I exm45494 1 36933431 [A/G] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_L619S,Missense_L619S,Missense_L619S exm45495 1 36933473 [T/G] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_Q605P,Missense_Q605P,Missense_Q605P exm45500 1 36933539 [T/C] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_R583H,Missense_R583H,Missense_R583H exm45504 1 36933715 [A/G] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_Y562H,Missense_Y562H,Missense_Y562H exm45507 1 36933759 [T/C] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Nonsense_W547X,Nonsense_W547X,Nonsense_W547X exm45512 1 36934805 [C/G] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_D510H,Missense_D510H,Missense_D510H rs3917991 1 36934805 [C/G] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_D510H,Missense_D510H,Missense_D510H exm45526 1 36935360 [T/G] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_P456H,Missense_P456H,Missense_P456H exm45529 1 36935408 [T/C] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_R440Q,Missense_R440Q,Missense_R440Q exm45537 1 36937106 [T/C] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_E405K,Missense_E405K,Missense_E405K exm45542 1 36937701 [T/C] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_Q346R,Missense_Q346R,Missense_Q346R exm45547 1 36937878 [T/C] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_D320N,Missense_D320N,Missense_D320N exm45556 1 36938257 [A/G] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_M235T,Missense_M235T,Missense_M235T exm45559 1 36938269 [A/G] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_M231T,Missense_M231T,Missense_M231T exm45569 1 36939403 [G/C] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_E149D,Missense_E149D,Missense_E149D exm45576 1 36940995 [A/G] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_V115A,Missense_V115A,Missense_V115A rs3917950 1 36941751 [A/G] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R Silent,Silent,Silent exm45598 1 36945037 [T/C] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R EXON Missense_G21R,Missense_G21R,Missense_G21R rs3917922 1 36945713 [T/C] NM_172313,NM_000760,NM_156039 CSF3R,CSF3R,CSF3R Silent,Silent,Silent rs6667450 1 36957831 [T/C] rs11263901 1 36960626 [A/G] rs11804163 1 36984734 [T/C] rs6425991 1 36988601 [A/G] rs7526895 1 37000090 [T/C] rs4503315 1 37000226 [T/G] rs10752589 1 37001923 [T/C] rs17498436 1 37003273 [T/C] rs12072868 1 37013031 [A/G] rs10796886 1 37014811 [T/C] rs4026409 1 37033128 [T/C] rs7538665 1 37043894 [T/C] rs7526919 1 37056334 [A/C] rs4653204 1 37058354 [T/C] rs12063741 1 37070248 [A/G] rs4653210 1 37074351 [T/G] rs7533162 1 37084522 [A/G] rs1474850 1 37096184 [A/C] rs6702202 1 37096594 [A/G] rs12411078 1 37108638 [T/C] rs7355025 1 37115263 [A/G] rs219002 1 37126512 [A/G] rs218990 1 37136762 [T/G] rs1395457 1 37143732 [T/C] rs2983118 1 37163878 [A/G] rs12755038 1 37165467 [T/G] rs4652921 1 37174773 [A/G] rs12063010 1 37178411 [T/C] rs1002656 1 37192741 [T/C] rs16823426 1 37193645 [A/G] rs7549591 1 37198352 [T/C] rs11576073 1 37200680 [A/G] rs1472823 1 37220721 [A/G] exm2265001 1 37254301 [A/G] rs479779 1 37256063 [A/G] var_1_37270575 1 37270575 [I/D] NM_000831 GRIK3 exm45620 1 37271783 [T/C] NM_000831 GRIK3 EXON Missense_V746I rs476227 1 37285123 [A/C] NM_000831 GRIK3 Silent exm45636 1 37285454 [A/C] NM_000831 GRIK3 EXON Missense_F586V rs484017 1 37303737 [T/C] NM_000831 GRIK3 Silent 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 rs574214 1 37335085 [A/C] NM_000831 GRIK3 Silent exm45708 1 37346259 [T/G] NM_000831 GRIK3 EXON Missense_T176P rs3767058 1 37352057 [A/G] NM_000831 GRIK3 Silent rs16823687 1 37408081 [A/G] NM_000831 GRIK3 Silent rs475292 1 37410008 [T/C] NM_000831 GRIK3 Silent rs501832 1 37421958 [C/G] NM_000831 GRIK3 Silent rs6426003 1 37430266 [A/C] NM_000831 GRIK3 Silent rs3820274 1 37444665 [T/C] NM_000831 GRIK3 Silent rs9628638 1 37459950 [A/G] NM_000831 GRIK3 Silent rs12138633 1 37478063 [A/G] NM_000831 GRIK3 Silent rs6686296 1 37489380 [T/G] NM_000831 GRIK3 Silent exm45736 1 37499626 [T/G] NM_000831 GRIK3 EXON Missense_D28E rs2859741 1 37509352 [T/C] rs550273 1 37525639 [A/G] rs1334792 1 37530824 [A/G] rs6702349 1 37534255 [T/C] rs218396 1 37548473 [A/G] rs3765424 1 37561389 [T/G] rs849952 1 37561638 [A/G] rs3856135 1 37567439 [T/C] rs709303 1 37570787 [A/G] exm-rs849961 1 37577214 [A/G] exm2264822 1 37581516 [A/G] rs10908321 1 37581882 [A/G] rs215791 1 37606291 [T/C] rs12131641 1 37611513 [A/G] rs2884796 1 37617809 [T/C] rs4653252 1 37622070 [A/C] rs218388 1 37641047 [T/C] rs215811 1 37668630 [T/C] rs10908325 1 37700681 [A/G] rs12140004 1 37704048 [A/G] rs872157 1 37716037 [T/C] rs6691915 1 37716718 [A/G] rs1542885 1 37725041 [T/C] rs624650 1 37749227 [A/G] rs301992 1 37752850 [T/C] rs10908337 1 37765920 [A/G] rs1888695 1 37769074 [T/C] rs11582151 1 37796608 [A/G] rs727670 1 37809549 [T/G] rs1004766 1 37824508 [A/G] rs1569661 1 37853334 [A/G] rs16824043 1 37855834 [A/G] rs2745487 1 37859876 [A/G] rs2745486 1 37861046 [A/G] rs876465 1 37864911 [T/C] rs875361 1 37865954 [A/G] rs2745481 1 37866343 [T/C] rs16824060 1 37867275 [A/G] rs10908348 1 37878610 [A/G] rs2811630 1 37882114 [A/G] rs4428850 1 37889172 [T/G] rs10908350 1 37902331 [A/G] rs10493078 1 37909488 [A/C] rs2484556 1 37913283 [T/C] rs2660569 1 37922859 [T/C] NR_038842 LOC728431 Silent rs6681785 1 37939094 [T/C] NR_038842 LOC728431 Silent rs2492301 1 37939173 [T/C] NR_038842 LOC728431 Silent 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 rs215206 1 37951754 [T/C] rs6700586 1 37957376 [A/G] NM_001270875,NM_001270876,NR_073092,NR_073091,NR_073090,NM_022756 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 EXON Silent,Silent,Silent,Silent,Silent,Silent exm-rs9253 1 37958813 [G/C] NM_001270875,NM_001270876,NR_073092,NR_073091,NR_073090,NM_022756 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 EXON Silent,Silent,Silent,Silent,Silent,Silent exm45881 1 37967549 [T/C] NM_001270875,NM_001270876,NR_073092,NR_073091,NR_073090,NM_022756 MEAF6,MEAF6,MEAF6,MEAF6,MEAF6,MEAF6 EXON Missense_N130S,Missense_N130S,Silent,Silent,Silent,Missense_N130S rs7545493 1 37996750 [A/C] rs12119795 1 37999227 [T/C] exm45902 1 38003384 [T/C] NM_024700 SNIP1 EXON Missense_D386N exm45905 1 38003422 [A/G] NM_024700 SNIP1 EXON Missense_S373L newrs150740046 1 38005758 [A/C] NM_024700 SNIP1 EXON Missense_R309L 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 variant.2483 1 38023342 [A/C] NM_003462 DNALI1 EXON Missense_P96T variant.2484 1 38023351 [T/G] NM_003462 DNALI1 Silent 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 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 variant.2489 1 38027835 [T/C] NM_003462 DNALI1 EXON Nonsense_Q266X rs6619 1 38030696 [T/C] NM_003462 DNALI1 EXON Silent 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 variant.2491 1 38034447 [A/G] NM_013285 GNL2 Silent exm46053 1 38034737 [T/C] NM_013285 GNL2 EXON Missense_R528Q variant.2492 1 38034738 [A/G] NM_013285 GNL2 EXON Nonsense_R528X exm46056 1 38034836 [A/G] NM_013285 GNL2 EXON Missense_T495I rs10908355 1 38035286 [T/G] NM_013285 GNL2 Silent exm2251558 1 38038388 [A/G] NM_013285 GNL2 Silent exm46062 1 38039997 [A/G] NM_013285 GNL2 EXON Missense_R455W indel.2493 1 38040058 [I/D] NM_013285 GNL2 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 newrs148032409 1 38041298 [A/G] NM_013285 GNL2 EXON Synonymous_V347V variant.2496 1 38042024 [T/C] NM_013285 GNL2 Silent 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 variant.2498 1 38049463 [T/C] NM_013285 GNL2 Silent exm46093 1 38049499 [T/C] NM_013285 GNL2 EXON Missense_Q202R exm46094 1 38049504 [G/C] NM_013285 GNL2 EXON Missense_K200N rs7535432 1 38051585 [A/G] NM_013285 GNL2 Silent 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 rs4652964 1 38078300 [A/G] NM_001038633,NM_001242909,NM_001242910,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 EXON Silent,Silent,Silent,Silent exm46136 1 38078561 [A/G] NM_001038633,NM_001242909,NM_001242910,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_R220W,Missense_R193W,Missense_R157W,Missense_R220W exm46147 1 38079393 [T/C] NM_001038633,NM_001242909,NM_001242910,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_R203K,Missense_R176K,Silent,Missense_R203K exm1800826 1 38079537 [A/G] NM_001038633,NM_001242909,NM_001242910,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_P155L,Missense_P128L,Silent,Missense_P155L exm46153 1 38079563 [T/C] NM_001038633,NM_001242909,NM_001242910,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 EXON Synonymous_A146A,Synonymous_A119A,Silent,Synonymous_A146A exm46163 1 38082222 [T/C] NM_001038633,NM_001242909,NM_001242910,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_V74I,Missense_V47I,Missense_V74I,Missense_V74I exm46165 1 38082327 [T/C] NM_001038633,NM_001242909,NM_001242910,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 EXON Missense_A39T,Missense_A12T,Missense_A39T,Missense_A39T rs12023270 1 38086578 [T/C] NM_001038633,NM_001242909,NM_001242910,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent rs4074961 1 38092723 [T/C] NM_001038633,NM_001242909,NM_001242910,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent exm46170 1 38095274 [A/G] NM_001038633,NM_001242909,NM_001242910,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 EXON Synonymous_S20S,Silent,Synonymous_S20S,Synonymous_S20S rs4233215 1 38098036 [A/G] NM_001038633,NM_001242909,NM_001242910,NM_001242908 RSPO1,RSPO1,RSPO1,RSPO1 Silent,Silent,Silent,Silent rs7552071 1 38109752 [T/C] rs11264081 1 38117142 [T/C] rs11264082 1 38122012 [A/G] rs6687329 1 38127154 [A/G] rs10908367 1 38134606 [A/C] 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 rs686083 1 38149193 [T/C] NM_017850 C1orf109 Silent exm46188 1 38152078 [A/G] NM_017850 C1orf109 EXON Nonsense_R108X rs501252 1 38154170 [A/G] NM_017850 C1orf109 Silent exm46198 1 38155366 [T/G] NM_017850 C1orf109 EXON Missense_L63I exm46202 1 38155488 [T/C] NM_017850 C1orf109 EXON Missense_E22G variant.2506 1 38155546 [A/G] NM_017850 C1orf109 EXON Nonsense_Q3X rs3762352 1 38156902 [T/C] rs652109 1 38157717 [A/G] exm46212 1 38158648 [A/G] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_I56V,Missense_I56V rs11264087 1 38163387 [T/C] NM_001256875,NM_018101 CDCA8,CDCA8 Silent,Silent exm46216 1 38166111 [A/G] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_R114Q,Missense_R114Q exm2273637 1 38166170 [T/C] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_R134C,Missense_R134C exm46225 1 38168965 [T/G] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_L177W,Missense_L177W exm46234 1 38171207 [T/A] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_I227F,Missense_I227F exm46235 1 38171231 [A/G] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Missense_G235S,Missense_G235S exm46238 1 38172736 [T/C] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Synonymous_S266S,Synonymous_S266S rs557897 1 38174185 [T/G] NM_001256875,NM_018101 CDCA8,CDCA8 EXON Silent,Silent 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 rs6671088 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 rs6686248 1 38192296 [A/G] NM_001099439 EPHA10 Silent 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 rs731174 1 38196841 [T/C] NM_001099439 EPHA10 Silent 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 rs7549842 1 38199542 [T/C] NM_001099439 EPHA10 Silent rs659573 1 38199716 [T/C] NM_001099439 EPHA10 Silent rs631432 1 38201371 [T/C] NM_001099439 EPHA10 Silent rs663428 1 38206797 [A/G] NM_001099439 EPHA10 Silent rs483201 1 38207825 [T/G] NM_001099439 EPHA10 Silent rs508992 1 38222805 [T/G] NM_001099439 EPHA10 Silent 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 rs10157024 1 38231069 [T/C] rs489408 1 38243785 [A/G] exm-rs12117544 1 38247153 [A/T] rs4308943 1 38247738 [A/G] rs2306627 1 38260503 [T/C] NM_001031740,NM_001113482 MANEAL,MANEAL Silent,Silent 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 variant.2539 1 38269969 [T/C] NM_024640 YRDC Silent 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 rs473279 1 38275802 [T/C] NM_005955 MTF1 EXON Silent rs3748682 1 38279987 [T/C] NM_005955 MTF1 EXON Silent exm46553 1 38280866 [A/G] NM_005955 MTF1 EXON Missense_I735T indel.2541 1 38280946 [I/D] NM_005955 MTF1 EXON exm46556 1 38280953 [T/C] NM_005955 MTF1 EXON Missense_D706G variant.2542 1 38280972 [A/G] NM_005955 MTF1 EXON Nonsense_Q700X 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 rs12751325 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 variant.2543 1 38305836 [A/C] NM_005955 MTF1 Silent rs12745294 1 38309322 [T/C] NM_005955 MTF1 Silent exm46626 1 38323142 [T/G] NM_005955 MTF1 EXON Missense_D63E variant.2544 1 38328076 [A/G] NM_005540 INPP5B EXON Nonsense_R885X exm46640 1 38329999 [C/G] NM_005540 INPP5B EXON Missense_D871H rs3828152 1 38330396 [A/C] NM_005540 INPP5B Silent var_1_38334168 1 38334168 [A/C] NM_005540 INPP5B Silent var_1_38334190 1 38334190 [A/G] NM_005540 INPP5B EXON Nonsense_R762X variant.2549 1 38338600 [A/G] NM_005540 INPP5B Silent exm46658 1 38338795 [A/G] NM_005540 INPP5B EXON Missense_M665T rs12742756 1 38347417 [A/G] NM_005540 INPP5B Silent 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 rs12733578 1 38380285 [A/G] NM_005540 INPP5B Silent rs12739026 1 38401933 [A/C] NM_005540 INPP5B Silent rs28600729 1 38406626 [A/G] NM_005540 INPP5B Silent exm46735 1 38409317 [T/A] NM_005540 INPP5B EXON Missense_I92N exm46737 1 38409489 [A/G] NM_005540 INPP5B EXON Missense_R77W exm2251567 1 38409550 [T/C] NM_005540 INPP5B EXON Synonymous_T56T exm46742 1 38409550 [T/C] NM_005540 INPP5B EXON Synonymous_T56T exm46746 1 38411444 [T/C] NM_005540 INPP5B EXON Missense_G46S rs11210870 1 38449910 [T/C] NM_006802 SF3A3 EXON Synonymous_E133E exm46802 1 38450438 [A/G] NM_006802 SF3A3 EXON Missense_M106T rs12044531 1 38453041 [A/G] NM_006802 SF3A3 Silent exm46807 1 38453330 [T/C] NM_006802 SF3A3 EXON Missense_N73S rs4072980 1 38456106 [A/G] 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 rs6600436 1 38469500 [T/C] NM_001243878,NM_004468 FHL3,FHL3 Silent,Silent 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 variant.2558 1 38484254 [T/G] NM_016037 UTP11L Silent indel.2559 1 38484752 [I/D] NM_016037 UTP11L EXON exm46883 1 38484795 [A/G] NM_016037 UTP11L EXON Missense_H136R exm46886 1 38484981 [A/G] NM_016037 UTP11L EXON Missense_V165I variant.2560 1 38485041 [T/C] NM_016037 UTP11L EXON Nonsense_Q185X exm46889 1 38488372 [A/G] NM_016037 UTP11L EXON Missense_R190Q variant.2561 1 38488425 [T/C] NM_016037 UTP11L EXON Nonsense_R208X exm46900 1 38489251 [T/C] NM_016037 UTP11L EXON Missense_T238M exm46901 1 38489269 [T/C] NM_016037 UTP11L EXON Missense_I244T var_1_38489289 1 38489289 [T/C] NM_016037 UTP11L EXON Nonsense_R251X rs12408171 1 38491265 [T/C] rs569791 1 38507495 [A/G] rs11205858 1 38529500 [A/G] rs12733163 1 38533001 [A/G] rs12074522 1 38541428 [A/G] rs2615811 1 38570853 [A/G] rs6662282 1 38595864 [A/G] rs7547921 1 38602073 [A/C] rs4593783 1 38609325 [A/G] rs883220 1 38616871 [A/C] rs12083795 1 38623285 [T/G] exm-rs12131057 1 38624129 [A/G] rs6656185 1 38640565 [T/C] rs898982 1 38645708 [A/G] rs10889449 1 38651608 [A/G] rs748229 1 38657551 [T/C] rs1993804 1 38660593 [T/C] rs1841796 1 38664433 [A/G] rs898978 1 38667704 [T/G] rs6659413 1 38671406 [T/C] rs6675079 1 38686908 [A/C] rs16824807 1 38695702 [A/G] rs6702480 1 38715252 [T/C] rs11802770 1 38721663 [T/C] rs2480697 1 38733788 [T/G] exm2251575 1 38734768 [A/G] rs12075194 1 38738105 [A/C] rs1543632 1 38747960 [T/C] rs12565767 1 38750042 [T/G] rs6600376 1 38750228 [A/C] rs1329967 1 38752476 [A/G] rs1778040 1 38769077 [A/C] rs12748758 1 38769144 [T/C] rs1778037 1 38774882 [T/G] rs1778041 1 38790638 [A/G] rs2637846 1 38799191 [T/C] rs10890173 1 38799283 [A/G] rs11210569 1 38805929 [T/C] rs2637876 1 38814355 [A/C] rs2040073 1 38829224 [T/C] rs4278342 1 38843016 [A/G] rs11210654 1 38848996 [A/G] rs4266846 1 38850339 [A/C] rs12061862 1 38858428 [A/G] rs12740005 1 38858540 [A/G] rs6690257 1 38865601 [A/G] exm2260265 1 38875991 [T/C] rs12132779 1 38876635 [A/G] rs10890223 1 38890659 [T/C] rs7530233 1 38900643 [A/G] rs4970591 1 38900680 [T/C] rs2256357 1 38908461 [T/C] rs882000 1 38917810 [T/G] rs2252153 1 38919423 [A/G] rs2251803 1 38922053 [A/G] rs2494441 1 38929864 [A/G] rs2247973 1 38931261 [T/C] rs12564999 1 38932405 [T/C] rs2992434 1 38954125 [T/C] rs2184611 1 38984339 [T/C] rs4469689 1 39033922 [A/G] rs11210993 1 39042285 [T/C] rs2985755 1 39054557 [A/G] rs2985774 1 39071272 [A/G] rs12037910 1 39087604 [A/G] rs7548027 1 39092056 [A/C] rs4970609 1 39092449 [A/G] rs4970612 1 39125390 [T/C] rs6687438 1 39129295 [T/C] rs6687034 1 39134880 [T/C] rs4970614 1 39135748 [T/C] rs4970619 1 39160381 [A/G] rs10789469 1 39166802 [T/C] rs6680382 1 39192498 [A/G] rs679143 1 39204184 [A/G] rs942759 1 39214152 [A/G] exm2263821 1 39221925 [A/C] rs4147130 1 39225303 [A/G] rs12046969 1 39242855 [A/G] rs12729493 1 39247489 [T/C] rs1925421 1 39250964 [A/G] rs10789490 1 39255293 [A/G] rs6675193 1 39258674 [T/C] rs12026925 1 39266840 [A/G] rs9439072 1 39278828 [A/G] rs6690335 1 39291708 [A/G] rs9438970 1 39295972 [T/C] rs9694 1 39304728 [A/G] NM_022157,NM_001271851 RRAGC,RRAGC EXON Silent,Silent exm46939 1 39305305 [G/C] NM_022157,NM_001271851 RRAGC,RRAGC EXON Missense_H374D,Missense_H340D indel.2566 1 39305316 [D/I] NM_022157,NM_001271851 RRAGC,RRAGC EXON exm46948 1 39317396 [T/C] NM_022157,NM_001271851 RRAGC,RRAGC EXON Missense_V264I,Missense_V230I indel.2567 1 39330363 [I/D] NR_037635,NR_037632,NM_012333,NR_037636,NR_037637,NR_037633,NR_037634 GJA9-MYCBP,MYCBP,MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP EXON exm46969 1 39332586 [A/G] NR_037635,NR_037632,NM_012333,NR_037636,NR_037637,NR_037633,NR_037634 GJA9-MYCBP,MYCBP,MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP EXON Silent,Silent,Missense_A78V,Silent,Silent,Silent,Silent exm46983 1 39340282 [T/C] NR_037635,NR_037636,NR_037637,NR_037633,NR_037634,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_037636,NR_037637,NR_037633,NR_037634,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_037636,NR_037637,NR_037633,NR_037634,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_037636,NR_037637,NR_037633,NR_037634,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Missense_G450S indel.2568 1 39340503 [I/D] NR_037635,NR_037636,NR_037637,NR_037633,NR_037634,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON exm46993 1 39340507 [A/G] NR_037635,NR_037636,NR_037637,NR_037633,NR_037634,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_037636,NR_037637,NR_037633,NR_037634,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Missense_P405S variant.2569 1 39340560 [T/G] NR_037635,NR_037636,NR_037637,NR_037633,NR_037634,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Nonsense_S404X exm47002 1 39340761 [T/C] NR_037635,NR_037636,NR_037637,NR_037633,NR_037634,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_037636,NR_037637,NR_037633,NR_037634,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_037636,NR_037637,NR_037633,NR_037634,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_037636,NR_037637,NR_037633,NR_037634,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Missense_P193L variant.2572 1 39341248 [A/G] NR_037635,NR_037636,NR_037637,NR_037633,NR_037634,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Nonsense_Q175X indel.2573 1 39341490 [I/D] NR_037635,NR_037636,NR_037637,NR_037633,NR_037634,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON exm47038 1 39341749 [T/C] NR_037635,NR_037636,NR_037637,NR_037633,NR_037634,NM_030772 GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9-MYCBP,GJA9 EXON Silent,Silent,Silent,Silent,Silent,Missense_G8R rs4970633 1 39350742 [T/C] rs4491033 1 39352083 [T/G] NM_017821 RHBDL2 EXON Silent exm47042 1 39352271 [T/G] NM_017821 RHBDL2 EXON Missense_L273M exm47048 1 39353636 [A/G] NM_017821 RHBDL2 EXON Missense_P244L rs4414011 1 39354517 [T/C] NM_017821 RHBDL2 Silent exm47054 1 39361681 [A/C] NM_017821 RHBDL2 EXON Missense_V190G rs4246511 1 39380385 [T/C] NM_017821 RHBDL2 Silent rs6675870 1 39381576 [T/C] NM_017821 RHBDL2 Silent 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 rs9438994 1 39388838 [A/G] NM_017821 RHBDL2 Silent rs16825658 1 39395883 [A/G] NM_017821 RHBDL2 Silent rs6656771 1 39396070 [A/G] NM_017821 RHBDL2 Silent rs12042694 1 39396424 [T/C] NM_017821 RHBDL2 Silent rs10749676 1 39398869 [A/C] NM_017821 RHBDL2 Silent rs4512638 1 39424634 [T/C] rs7548458 1 39430262 [T/C] rs6665494 1 39431045 [T/C] rs6696013 1 39451857 [A/C] rs4660652 1 39457859 [A/G] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 Silent,Silent rs7553434 1 39458110 [A/G] NM_024595,NM_001136275 AKIRIN1,AKIRIN1 Silent,Silent 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 rs10888621 1 39472585 [A/G] variant.2578 1 39494490 [T/C] NM_004552,NM_001184979 NDUFS5,NDUFS5 EXON Nonsense_R32X,Nonsense_R32X exm47115 1 39494611 [T/C] NM_004552,NM_001184979 NDUFS5,NDUFS5 EXON Missense_T72M,Missense_T72M variant.2579 1 39500133 [T/C] NM_004552,NM_001184979 NDUFS5,NDUFS5 EXON Missense_P96S,Missense_P96S rs12063115 1 39503018 [T/C] rs10888650 1 39507161 [A/G] rs10465799 1 39518006 [A/G] rs9786967 1 39528071 [A/G] rs9659165 1 39545269 [T/C] rs260974 1 39548798 [T/G] NM_012090 MACF1 Silent rs2282232 1 39568765 [T/C] NM_012090 MACF1 Silent rs11580989 1 39583686 [T/C] NM_012090 MACF1 Silent rs11205665 1 39590824 [T/C] NM_012090 MACF1 Silent rs560372 1 39644067 [A/G] NM_012090 MACF1 Silent rs1537818 1 39647038 [A/G] NM_012090 MACF1 Silent rs7538300 1 39652764 [A/C] NM_012090 MACF1 Silent rs16837533 1 39703847 [A/G] NM_012090 MACF1 Silent exm47137 1 39715702 [A/G] NM_012090 MACF1 EXON Missense_N100S rs4660214 1 39731550 [T/C] NM_012090 MACF1 Silent rs2252410 1 39744607 [T/G] NM_012090 MACF1 Silent variant.2582 1 39748046 [A/G] NM_012090 MACF1 EXON Missense_R237Q rs2275188 1 39748921 [A/G] NM_012090 MACF1 EXON Synonymous_Q257Q 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 rs2484749 1 39758955 [A/G] NM_012090 MACF1 Silent exm47195 1 39763365 [T/G] NM_012090 MACF1 EXON Missense_C815F newrs74718295 1 39775245 [T/C] NM_012090 MACF1 EXON Synonymous_V936V 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 variant.2585 1 39783084 [A/G] NM_012090 MACF1 Silent exm2233329 1 39784125 [T/C] NM_012090 MACF1 EXON Synonymous_R1266R exm47264 1 39785384 [G/C] NM_012090 MACF1 EXON Missense_Q1337E newrs146105375 1 39785424 [A/C] NM_012090 MACF1 Silent rs3116389 1 39785641 [A/G] NM_012090 MACF1 Silent 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 indel.2587 1 39797336 [I/D] NM_012090 MACF1 variant.2588 1 39797421 [T/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 indel.2589 1 39797747 [I/D] NM_012090 MACF1 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 1KG_1_39798401 1 39798401 [I/D] NM_012090 MACF1 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 1KG_1_39798630 1 39798630 [I/D] NM_012090 MACF1 exm47363 1 39798682 [T/G] NM_012090 MACF1 Silent exm47366 1 39798745 [G/C] NM_012090 MACF1 Silent rs16826075 1 39798767 [A/G] 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 variant.2591 1 39799506 [T/C] 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 indel.2592 1 39800499 [D/I] NM_012090 MACF1 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 indel.2594 1 39801617 [I/D] NM_012090 MACF1 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 variant.2595 1 39806186 [T/G] NM_012090 MACF1 Silent exm47507 1 39806566 [A/G] NM_012090 MACF1 Silent indel.2597 1 39806578 [I/D] NM_012090 MACF1 exm2233336 1 39816512 [T/A] NM_012090 MACF1 EXON Missense_D1612V 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 newrs148300193 1 39824545 [A/G] NM_012090 MACF1 EXON Synonymous_K1978K 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 variant.2599 1 39833986 [A/G] NM_012090 MACF1 EXON Missense_R2251K 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 rs616630 1 39871926 [A/G] NM_012090 MACF1 Silent 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 variant.2604 1 39878131 [T/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Nonsense_E732X 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 variant.2606 1 39880215 [A/G] NM_012090,NM_015038 MACF1,KIAA0754 EXON Silent,Nonsense_W1426X variant.2607 1 39888184 [T/C] NM_012090 MACF1 EXON Nonsense_R3257X exm47888 1 39888185 [A/G] NM_012090 MACF1 EXON Missense_R3257Q variant.2608 1 39888577 [A/G] NM_012090 MACF1 Silent 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 rs599823 1 39897271 [T/C] NM_012090 MACF1 Silent 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 rs10489935 1 39906659 [A/G] NM_012090 MACF1 Silent 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 rs687848 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 newrs145079541 1 39924162 [A/G] NM_012090 MACF1 EXON Missense_R5007G exm48072 1 39924770 [A/G] NM_012090 MACF1 EXON Missense_S5011N exm48096 1 39934315 [T/G] NM_012090 MACF1 EXON Missense_V5202G rs2275767 1 39945297 [T/C] NM_012090 MACF1 Silent 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 rs710915 1 39952745 [A/G] NM_012090 MACF1 EXON Silent exm2268879 1 39952822 [T/C] exm48186 1 39991342 [A/G] NM_181809,NR_003929 BMP8A,PPIEL EXON Missense_A361T,Silent rs1180341 1 39992808 [T/C] NM_181809,NR_003929 BMP8A,PPIEL EXON Silent,Silent rs3768319 1 40026043 [T/G] 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 rs9438926 1 40035182 [A/G] NM_001135653,NM_001135654,NM_003819 PABPC4,PABPC4,PABPC4 Silent,Silent,Silent rs17513135 1 40035686 [T/C] NM_001135653,NM_001135654,NM_003819 PABPC4,PABPC4,PABPC4 Silent,Silent,Silent rs2242500 1 40037902 [A/G] NM_001135653,NM_001135654,NM_003819 PABPC4,PABPC4,PABPC4 Silent,Silent,Silent exm2264826 1 40049184 [A/G] rs7539279 1 40050568 [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 exm48317 1 40092671 [T/C] NM_014571 HEYL EXON Synonymous_T165T exm2251616 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 rs4660892 1 40104584 [A/G] NM_014571 HEYL Silent rs784622 1 40104814 [A/G] NM_014571 HEYL Silent exm48348 1 40105285 [T/C] NM_014571 HEYL EXON Missense_K5E rs1180280 1 40106095 [A/G] rs16826428 1 40124240 [A/G] 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 variant.2615 1 40129002 [A/G] NM_032526 NT5C1A EXON Nonsense_R180X variant.2616 1 40129057 [T/G] NM_032526 NT5C1A EXON Nonsense_C161X 1KG_1_40129103 1 40129103 [D/I] NM_032526 NT5C1A EXON 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 rs1533479 1 40138123 [A/C] rs6663003 1 40143327 [T/C] rs6703320 1 40145297 [T/C] NM_016257 HPCAL4 EXON Silent exm2251617 1 40148295 [A/G] NM_016257 HPCAL4 EXON Synonymous_D163D exm48415 1 40148335 [T/C] NM_016257 HPCAL4 EXON Missense_R150H rs784634 1 40149642 [T/G] NM_016257 HPCAL4 EXON Synonymous_R115R exm48429 1 40149791 [T/G] NM_016257 HPCAL4 EXON Missense_Q66K rs9662128 1 40150156 [A/G] NM_016257 HPCAL4 EXON Synonymous_S40S rs785108 1 40152676 [T/C] NM_016257 HPCAL4 Silent rs564249 1 40155623 [A/G] NM_016257 HPCAL4 Silent rs481423 1 40183922 [T/C] rs704782 1 40184733 [A/G] rs704784 1 40188113 [T/C] rs12406805 1 40190102 [A/G] rs539853 1 40194903 [A/G] newrs11809873 1 40205859 [T/C] NM_006112,NR_036544,NM_001195007,NR_036543,NM_203456 PPIE,PPIE,PPIE,PPIE,PPIE EXON Synonymous_D18D,Silent,Synonymous_D18D,Silent,Synonymous_D18D rs497333 1 40207169 [T/G] NM_006112,NR_036544,NM_001195007,NR_036543,NM_203456 PPIE,PPIE,PPIE,PPIE,PPIE Silent,Silent,Silent,Silent,Silent exm48456 1 40209586 [A/C] NM_006112,NR_036544,NM_001195007,NR_036543,NM_203456 PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_E125A,Silent,Missense_E125A,Silent,Missense_E125A exm48457 1 40211072 [A/G] NM_006112,NR_036544,NM_001195007,NR_036543,NM_203456 PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_R137H,Silent,Missense_R137H,Silent,Missense_R137H exm48459 1 40211117 [T/C] NM_006112,NR_036544,NM_001195007,NR_036543,NM_203456 PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_P152L,Silent,Missense_P152L,Silent,Missense_P152L exm48474 1 40218695 [A/G] NM_006112,NR_036544,NM_001195007,NR_036543,NM_203456 PPIE,PPIE,PPIE,PPIE,PPIE EXON Missense_E270K,Silent,Missense_E270K,Silent,Missense_E270K rs1046988 1 40219065 [T/C] NM_006112,NR_036544,NM_001195007,NR_036543,NM_203456 PPIE,PPIE,PPIE,PPIE,PPIE EXON Silent,Silent,Silent,Silent,Silent 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 indel.2623 1 40236089 [I/D] NM_001720,NM_022120 BMP8B,OXCT2 EXON exm48574 1 40236206 [A/G] NM_001720,NM_022120 BMP8B,OXCT2 EXON Silent,Missense_T241M rs914962 1 40242315 [T/C] NM_001720 BMP8B Silent rs230280 1 40255872 [T/G] rs230284 1 40258993 [A/G] rs2676697 1 40275549 [T/C] rs1999574 1 40288051 [A/G] rs6693041 1 40302463 [A/C] rs7315 1 40306898 [T/C] NM_017646 TRIT1 EXON Silent 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 variant.2627 1 40315791 [T/C] NM_017646 TRIT1 EXON Missense_V235I 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 variant.2629 1 40319741 [A/G] NM_017646 TRIT1 Silent exm48649 1 40323015 [G/C] NM_017646 TRIT1 EXON Missense_I83M exm48650 1 40323028 [C/G] NM_017646 TRIT1 EXON Missense_R79P rs12028138 1 40323973 [T/C] NM_017646 TRIT1 Silent rs17570439 1 40324210 [T/C] NM_017646 TRIT1 Silent rs10489534 1 40325764 [T/G] NM_017646 TRIT1 Silent 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_001033082,NM_001033081 MYCL1,MYCL1 EXON Missense_T372A,Missense_T342A exm48683 1 40363445 [A/C] NM_001033082,NM_001033081 MYCL1,MYCL1 EXON Missense_G262C,Missense_G232C exm48692 1 40363600 [T/G] NM_001033082,NM_001033081 MYCL1,MYCL1 EXON Missense_S210Y,Missense_S180Y rs3134613 1 40364803 [A/C] NM_001033082,NM_001033081 MYCL1,MYCL1 Silent,Silent exm48711 1 40366962 [A/G] NM_001033082,NM_001033081,NM_005376 MYCL1,MYCL1,MYCL1 EXON Missense_P79S,Missense_P49S,Missense_P79S rs7548524 1 40368905 [T/C] rs3131644 1 40389420 [T/C] rs3103780 1 40395169 [A/G] rs12072037 1 40420206 [A/C] variant.2633 1 40424333 [A/G] NM_032793,NM_001136493 MFSD2A,MFSD2A Silent,Silent indel.2634 1 40424351 [D/I] NM_032793,NM_001136493 MFSD2A,MFSD2A EXON exm48733 1 40431601 [T/C] NM_032793,NM_001136493 MFSD2A,MFSD2A EXON Missense_T210M,Missense_T223M exm48750 1 40433345 [T/C] NM_032793,NM_001136493 MFSD2A,MFSD2A EXON Missense_R353W,Missense_R366W exm48753 1 40433537 [T/C] NM_032793,NM_001136493 MFSD2A,MFSD2A EXON Missense_A386V,Missense_A399V exm48754 1 40433552 [G/C] NM_032793,NM_001136493 MFSD2A,MFSD2A EXON Missense_A391G,Missense_A404G rs3103778 1 40433771 [A/G] NM_032793,NM_001136493 MFSD2A,MFSD2A Silent,Silent exm48764 1 40434281 [A/C] NM_032793,NM_001136493 MFSD2A,MFSD2A EXON Missense_R465S,Missense_R478S exm48767 1 40434386 [T/C] NM_032793,NM_001136493 MFSD2A,MFSD2A EXON Missense_R500W,Missense_R513W rs11207227 1 40437923 [T/C] rs4660371 1 40458920 [T/C] rs11207370 1 40499302 [A/G] rs3806207 1 40504550 [T/G] rs3131683 1 40513710 [T/C] NM_006367,NM_001105530 CAP1,CAP1 Silent,Silent variant.2638 1 40525007 [A/G] NM_006367,NM_001105530 CAP1,CAP1 Silent,Silent exm48778 1 40525097 [A/G] NM_006367,NM_001105530 CAP1,CAP1 EXON Missense_M27V,Missense_M27V var_1_40529898 1 40529898 [A/G] NM_006367,NM_001105530 CAP1,CAP1 Silent,Silent 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 rs7300 1 40538101 [A/G] NM_006367,NM_001105530 CAP1,CAP1 EXON Silent,Silent rs1126973 1 40539076 [T/C] NM_001142604,NM_000310 PPT1,PPT1 EXON Silent,Silent exm48852 1 40539750 [T/C] NM_001142604,NM_000310 PPT1,PPT1 EXON Missense_I199V,Missense_I302V exm48855 1 40539817 [G/C] NM_001142604,NM_000310 PPT1,PPT1 EXON Missense_Q176H,Missense_Q279H exm48856 1 40539849 [T/G] NM_001142604,NM_000310 PPT1,PPT1 EXON Missense_L166M,Missense_L269M rs6681804 1 40543019 [T/C] NM_001142604,NM_000310 PPT1,PPT1 Silent,Silent variant.2641 1 40544293 [A/G] NM_001142604,NM_000310 PPT1,PPT1 EXON Missense_L119P,Missense_L222P exm48877 1 40546155 [T/C] NM_001142604,NM_000310 PPT1,PPT1 EXON Missense_V78M,Missense_V181M newrs148412181 1 40546155 [T/C] NM_001142604,NM_000310 PPT1,PPT1 EXON Missense_V78M,Missense_V181M rs3131660 1 40547950 [T/C] NM_001142604,NM_000310 PPT1,PPT1 Silent,Silent rs12118846 1 40553444 [A/G] NM_001142604,NM_000310 PPT1,PPT1 Silent,Silent variant.2644 1 40555082 [T/C] NM_001142604,NM_000310 PPT1,PPT1 EXON Missense_R76H,Missense_R179H variant.2646 1 40555128 [A/G] NM_001142604,NM_000310 PPT1,PPT1 EXON Nonsense_R61X,Nonsense_R164X exm48881 1 40555167 [A/G] NM_001142604,NM_000310 PPT1,PPT1 EXON Nonsense_R48X,Nonsense_R151X newrs137852700 1 40555167 [A/G] NM_001142604,NM_000310 PPT1,PPT1 EXON Nonsense_R48X,Nonsense_R151X rs3131651 1 40555321 [T/C] NM_001142604,NM_000310 PPT1,PPT1 Silent,Silent variant.2649 1 40557021 [A/G] NM_001142604,NM_000310 PPT1,PPT1 EXON Silent,Missense_S138L exm48883 1 40557033 [A/G] NM_001142604,NM_000310 PPT1,PPT1 EXON Silent,Missense_I134T exm48886 1 40557070 [T/A] NM_001142604,NM_000310 PPT1,PPT1 EXON Silent,Missense_R122W exm48887 1 40557071 [A/C] NM_001142604,NM_000310 PPT1,PPT1 EXON Silent,Synonymous_L121L newrs117284255 1 40557075 [T/C] NM_001142604,NM_000310 PPT1,PPT1 Silent,Silent exm48890 1 40557750 [T/C] NM_001142604,NM_000310 PPT1,PPT1 EXON Silent,Missense_N110S variant.2654 1 40557807 [T/G] NM_001142604,NM_000310 PPT1,PPT1 EXON Silent,Missense_Q91P variant.2655 1 40557846 [T/C] NM_001142604,NM_000310 PPT1,PPT1 Silent,Silent rs4660390 1 40560399 [T/C] NM_001142604,NM_000310 PPT1,PPT1 Silent,Silent rs11207493 1 40560831 [T/C] NM_001142604,NM_000310 PPT1,PPT1 Silent,Silent rs6600317 1 40564994 [T/G] rs12074195 1 40573134 [A/G] rs12077320 1 40585235 [T/C] rs4492609 1 40598775 [T/C] rs6600318 1 40601636 [T/C] exm48910 1 40627183 [T/C] NM_012421 RLF EXON Missense_R38C exm48915 1 40627273 [A/G] NM_012421 RLF EXON Missense_V68I rs4600036 1 40636387 [T/G] NM_012421 RLF Silent rs11207626 1 40646447 [A/G] NM_012421 RLF Silent exm1802696 1 40661311 [A/G] NM_012421 RLF EXON Missense_H161R exm48931 1 40668255 [G/C] NM_012421 RLF EXON Missense_S260C rs11589250 1 40668772 [A/G] NM_012421 RLF Silent 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 rs10489429 1 40710071 [A/G] indel.2657 1 40713778 [I/D] NM_001008740 TMCO2 EXON exm49072 1 40716970 [A/G] NM_001008740 TMCO2 EXON Missense_V85I exm49077 1 40717052 [A/G] NM_001008740 TMCO2 EXON Missense_R112Q var_1_40717196 1 40717197 [I/D] NM_001008740 TMCO2 EXON rs926830 1 40722795 [A/G] 1KG_1_40737593 1 40737593 [D/I] NM_005857 ZMPSTE24 EXON variant.2665 1 40737647 [T/G] NM_005857 ZMPSTE24 EXON Nonsense_E237X rs6600323 1 40743727 [A/G] NM_005857 ZMPSTE24 Silent rs10489430 1 40748755 [T/C] NM_005857 ZMPSTE24 Silent exm49140 1 40756572 [A/G] NM_005857 ZMPSTE24 EXON Missense_R369Q var_1_40756603 1 40756603 [T/G] NM_005857 ZMPSTE24 EXON Nonsense_Y379X newrs116771294 1 40758225 [T/C] NM_005857 ZMPSTE24 EXON Missense_L438F exm49145 1 40758297 [G/C] NM_005857 ZMPSTE24 EXON Missense_L462V rs10489432 1 40759231 [A/G] NM_005857 ZMPSTE24 EXON Silent 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 rs3737821 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 rs2273195 1 40779841 [T/G] NM_001852 COL9A2 Silent 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 rs11207870 1 40789927 [T/C] rs10889285 1 40800486 [A/G] rs388538 1 40823379 [T/G] rs3013462 1 40827598 [T/C] rs209580 1 40845981 [T/C] NM_022733,NM_001198978 SMAP2,SMAP2 Silent,Silent rs209583 1 40847491 [A/C] NM_022733,NM_001198978 SMAP2,SMAP2 Silent,Silent rs6656226 1 40848821 [A/G] NM_022733,NM_001198978 SMAP2,SMAP2 Silent,Silent rs2982506 1 40865633 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent rs16827275 1 40870545 [T/C] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent rs2982510 1 40872623 [T/C] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent 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 newrs146684027 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 rs11208057 1 40885832 [A/G] NM_022733,NM_001198978,NM_001198979,NM_001198980 SMAP2,SMAP2,SMAP2,SMAP2 Silent,Silent,Silent,Silent rs2982500 1 40921145 [T/G] NM_023070 ZFP69B Silent rs12568089 1 40921238 [T/C] NM_023070 ZFP69B Silent 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 variant.2680 1 40928524 [T/C] NM_023070 ZFP69B EXON Nonsense_Q290X exm49407 1 40928552 [A/G] NM_023070 ZFP69B EXON Missense_R299K newrs148910082 1 40928587 [T/G] NM_023070 ZFP69B EXON Nonsense_E311X exm49412 1 40928587 [T/G] NM_023070 ZFP69B EXON Nonsense_E311X exm49416 1 40928708 [T/C] NM_023070 ZFP69B EXON Missense_T351I indel.2682 1 40928712 [I/D] NM_023070 ZFP69B EXON exm49418 1 40928731 [A/G] NM_023070 ZFP69B EXON Missense_G359R exm49419 1 40928744 [A/G] NM_023070 ZFP69B EXON Missense_Y363C variant.2683 1 40928776 [T/C] NM_023070 ZFP69B EXON Nonsense_Q374X exm49420 1 40928780 [A/G] NM_023070 ZFP69B EXON Missense_S375N indel.2684 1 40928884 [D/I] NM_023070 ZFP69B EXON indel.2685 1 40928935 [D/I] NM_023070 ZFP69B EXON 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 rs2982502 1 40930624 [A/G] 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 variant.2688 1 40954891 [A/G] NM_198494 ZFP69 Silent exm49447 1 40955200 [C/G] NM_198494 ZFP69 Silent indel.2690 1 40955214 [I/D] NM_198494 ZFP69 EXON 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 indel.2692 1 40960991 [I/D] NM_198494 ZFP69 EXON indel.2694 1 40961250 [D/I] NM_198494 ZFP69 EXON indel.2695 1 40961345 [I/D] NM_198494 ZFP69 EXON indel.2696 1 40961429 [D/I] NM_198494 ZFP69 EXON newrs139946046 1 40961498 [T/C] NM_198494 ZFP69 EXON Nonsense_Q450X exm49484 1 40961562 [A/G] NM_198494 ZFP69 EXON Missense_R471H exm2233377 1 40961682 [A/G] NM_198494 ZFP69 EXON Missense_S511N rs7511983 1 40966167 [T/C] rs3795347 1 40974156 [T/C] rs12068587 1 40974799 [T/C] NM_022774 EXO5 Silent 1KG_1_40980308 1 40980308 [I/D] NM_022774 EXO5 EXON exm49502 1 40980559 [A/G] NM_022774 EXO5 EXON Missense_D115N indel.2701 1 40980602 [I/D] NM_022774 EXO5 EXON 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 rs11208299 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 variant.2704 1 40980879 [A/C] NM_022774 EXO5 EXON Nonsense_Y221X exm49528 1 40981135 [A/G] NM_022774 EXO5 EXON Missense_I307V exm49537 1 40981313 [T/C] NM_022774 EXO5 EXON Missense_A366V variant.2706 1 41007285 [A/G] NM_152373 ZNF684 Silent rs7524182 1 41010378 [T/C] NM_152373 ZNF684 Silent rs11208363 1 41010454 [A/G] NM_152373 ZNF684 Silent exm49562 1 41012533 [A/C] NM_152373 ZNF684 EXON Missense_N180H newrs149604550 1 41012572 [T/G] NM_152373 ZNF684 EXON Nonsense_G193X 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 var_1_41012757 1 41012757 [A/G] NM_152373 ZNF684 EXON Nonsense_W254X exm49595 1 41013073 [A/T] NM_152373 ZNF684 EXON Missense_C360S rs6697575 1 41025861 [T/A] rs7537003 1 41032059 [A/G] rs4660436 1 41042068 [A/G] rs4660438 1 41050952 [A/G] rs16827403 1 41057570 [A/C] rs618144 1 41073802 [A/G] rs12059305 1 41085926 [A/G] rs570671 1 41091127 [T/C] NM_014747 RIMS3 EXON Silent 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 rs12562229 1 41105238 [A/G] NM_014747 RIMS3 Silent rs7524868 1 41106774 [T/G] NM_014747 RIMS3 Silent exm2273642 1 41107525 [T/C] NM_014747 RIMS3 EXON Missense_G25S exm49648 1 41107564 [T/C] NM_014747 RIMS3 EXON Missense_G12R rs664350 1 41108094 [T/C] NM_014747 RIMS3 Silent rs2780944 1 41115608 [T/C] NM_014747 RIMS3 Silent rs627178 1 41127976 [T/C] NM_014747 RIMS3 Silent rs12044426 1 41139341 [A/G] rs545218 1 41140985 [A/G] rs965949 1 41154407 [A/G] rs11208727 1 41170670 [T/C] NM_001142588,NM_001142587,NM_001142589,NM_014223,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent exm-rs1057925 1 41204569 [T/C] NM_001142588,NM_001142587,NM_001142589,NM_014223,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_001142587,NM_001142589,NM_014223,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC EXON Missense_T34A,Missense_T34A,Missense_T34A,Missense_T34A,Missense_T34A rs2274956 1 41212950 [A/G] NM_001142588,NM_001142587,NM_001142589,NM_014223,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent variant.2720 1 41215356 [T/C] NM_001142588,NM_001142587,NM_001142589,NM_014223,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC EXON Nonsense_Q97X,Nonsense_Q97X,Silent,Nonsense_Q97X,Nonsense_Q97X exm2251681 1 41223876 [T/C] NM_001142588,NM_001142587,NM_001142589,NM_014223,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC EXON Synonymous_V157V,Synonymous_V157V,Synonymous_V119V,Synonymous_V157V,Synonymous_V157V exm49677 1 41223876 [T/C] NM_001142588,NM_001142587,NM_001142589,NM_014223,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC EXON Synonymous_V157V,Synonymous_V157V,Synonymous_V119V,Synonymous_V157V,Synonymous_V157V rs11208830 1 41226602 [A/G] NM_001142588,NM_001142587,NM_001142589,NM_014223,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC Silent,Silent,Silent,Silent,Silent exm49687 1 41232317 [T/C] NM_001142588,NM_001142587,NM_001142589,NM_014223,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC EXON Missense_V257A,Missense_V257A,Missense_V219A,Missense_V257A,Missense_V223A variant.2721 1 41232620 [T/C] NM_001142588,NM_001142587,NM_001142589,NM_014223,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC EXON Nonsense_R287X,Silent,Silent,Silent,Silent exm49698 1 41236492 [A/G] NM_001142588,NM_001142587,NM_001142589,NM_014223,NM_001142590 NFYC,NFYC,NFYC,NFYC,NFYC EXON Missense_G353S,Missense_G333S,Missense_G296S,Missense_G334S,Missense_G300S rs753753 1 41237388 [A/G] exm-rs4660456 1 41239511 [A/G] rs2769255 1 41245354 [T/C] rs2769256 1 41248488 [T/C] rs4660464 1 41267258 [T/C] NM_004700,NM_172163 KCNQ4,KCNQ4 Silent,Silent rs727145 1 41272533 [T/C] NM_004700,NM_172163 KCNQ4,KCNQ4 Silent,Silent rs11208958 1 41276073 [T/C] NM_004700,NM_172163 KCNQ4,KCNQ4 Silent,Silent exm1806652 1 41282938 [T/G] NM_004700,NM_172163 KCNQ4,KCNQ4 EXON Missense_F106V,Missense_F106V rs4660468 1 41285087 [T/C] NM_004700,NM_172163 KCNQ4,KCNQ4 EXON Synonymous_A259A,Synonymous_A259A exm49741 1 41289822 [A/G] NM_004700,NM_172163 KCNQ4,KCNQ4 EXON Missense_R395Q,Silent rs6697721 1 41293001 [A/G] NM_004700,NM_172163 KCNQ4,KCNQ4 Silent,Silent rs3767943 1 41293419 [A/G] NM_004700,NM_172163 KCNQ4,KCNQ4 Silent,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] rs12403717 1 41315867 [A/C] rs913382 1 41323882 [T/C] rs11209041 1 41325801 [A/G] rs1359893 1 41338665 [A/G] rs913389 1 41343608 [A/G] rs728859 1 41347228 [A/C] rs10158668 1 41351613 [T/C] rs4660481 1 41354681 [T/C] rs4660484 1 41369334 [A/G] rs12133860 1 41370066 [T/C] rs3856250 1 41374443 [T/C] rs6674863 1 41378076 [T/C] rs7515340 1 41386871 [A/G] rs7554973 1 41387003 [T/C] rs1887542 1 41395072 [A/G] rs2361654 1 41399738 [T/G] rs4660492 1 41402143 [T/C] rs12043667 1 41404596 [T/C] rs11209213 1 41406460 [A/G] rs12067645 1 41425864 [A/G] rs12723637 1 41425927 [T/C] rs10789262 1 41437417 [T/C] rs4440845 1 41442786 [T/C] rs16827810 1 41447366 [A/G] NM_001905 CTPS1 Silent rs7523029 1 41449859 [T/C] NM_001905 CTPS1 Silent exm2251684 1 41456851 [A/G] NM_001905 CTPS1 EXON Synonymous_G190G variant.2729 1 41457472 [A/G] NM_001905 CTPS1 EXON Synonymous_S225S indel.2730 1 41461697 [D/I] NM_001905 CTPS1 EXON newrs36007898 1 41467918 [I/D] NM_001905 CTPS1 EXON 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_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SLFNL1-AS1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Missense_S512L,Missense_S504L,Missense_S573L,Missense_S393L,Missense_S561L,Missense_S490L,Missense_S490L exm1806762 1 41512133 [A/G] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_H411Y,Missense_H425Y,Missense_H472Y,Missense_H314Y,Missense_H482Y,Missense_H411Y,Missense_H411Y exm50022 1 41512204 [T/C] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_R387H,Missense_R401H,Missense_R448H,Missense_R290H,Missense_R458H,Missense_R387H,Missense_R387H exm50026 1 41514407 [T/C] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_V350I,Missense_V364I,Missense_V411I,Missense_V253I,Missense_V421I,Missense_V350I,Missense_V350I exm50029 1 41514455 [T/G] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_Q334K,Missense_Q348K,Missense_Q395K,Missense_Q237K,Missense_Q405K,Missense_Q334K,Missense_Q334K rs4660184 1 41524538 [T/C] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs6686842 1 41530871 [T/C] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm50037 1 41540902 [A/G] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_P252S,Missense_P266S,Missense_P313S,Missense_P155S,Missense_P323S,Missense_P252S,Missense_P252S exm50045 1 41541123 [A/G] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_V178A,Missense_V192A,Missense_V239A,Missense_V81A,Missense_V249A,Missense_V178A,Missense_V178A rs6685340 1 41552300 [A/G] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12022978 1 41554088 [A/G] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2024860 1 41562243 [T/C] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3819842 1 41563086 [T/C] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs213765 1 41582006 [T/G] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm50063 1 41582667 [A/G] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_A72V,Missense_A86V,Missense_A133V,Silent,Missense_A143V,Missense_A72V,Missense_A72V exm50066 1 41608595 [T/C] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Missense_I52V,Missense_I66V,Missense_I113V,Missense_I66V,Missense_I123V,Missense_I52V,Missense_I52V exm50068 1 41608601 [A/G] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Nonsense_Q50X,Nonsense_Q64X,Nonsense_Q111X,Nonsense_Q64X,Nonsense_Q121X,Nonsense_Q50X,Nonsense_Q50X rs213769 1 41615358 [T/C] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2273643 1 41617321 [T/A] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Silent,Missense_C38S,Silent,Missense_C48S,Silent,Silent variant.2747 1 41618271 [T/C] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Silent,Missense_G26S,Silent,Silent,Silent,Silent exm50073 1 41618297 [A/G] NM_001172221,NM_012236,NM_001031694,NM_001172222,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1,SCMH1 EXON Silent,Silent,Missense_P17L,Silent,Silent,Silent,Silent rs11209615 1 41640110 [A/G] NM_012236,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent rs11584802 1 41640686 [A/G] NM_012236,NM_001172219,NM_001172218,NM_001172220 SCMH1,SCMH1,SCMH1,SCMH1 Silent,Silent,Silent,Silent exm-rs2154319 1 41745770 [T/C] rs12030183 1 41761220 [T/C] rs12037657 1 41764175 [T/C] rs2154317 1 41785792 [A/G] rs16828092 1 41790077 [A/G] rs7355092 1 41800596 [T/G] rs4660190 1 41817502 [T/C] rs7349069 1 41822753 [T/C] rs11585393 1 41830257 [T/C] rs4660531 1 41839822 [T/G] rs11209971 1 41844293 [A/G] rs10889959 1 41849735 [T/C] rs10889978 1 41862125 [A/G] rs3845572 1 41864364 [T/C] rs2971987 1 41867980 [A/G] rs2997338 1 41872078 [T/G] rs2801962 1 41878988 [T/C] exm-rs12402711 1 41879081 [A/G] rs12402711 1 41879081 [A/G] rs3856254 1 41883722 [A/G] rs12133441 1 41889513 [A/C] rs4076553 1 41893256 [T/C] rs4262533 1 41904847 [A/G] rs11210142 1 41910825 [T/C] rs2483692 1 41925050 [T/C] rs1537522 1 41935450 [T/C] rs12069358 1 41940687 [T/C] rs11210250 1 41941115 [A/C] 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 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 rs3754287 1 41952597 [T/C] exm2264828 1 41953186 [A/G] rs12718439 1 41953745 [T/C] rs6671507 1 41957439 [T/C] rs747459 1 41962681 [T/G] rs2991345 1 41969327 [T/C] rs12043801 1 41971227 [A/C] rs1969749 1 41973908 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Silent,Silent 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 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 rs941970 1 41990867 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs638859 1 42001444 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs640688 1 42001831 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs1001925 1 42027561 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs1570359 1 42031065 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent 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 rs2146315 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 rs6700352 1 42071438 [T/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs17363834 1 42076607 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs7515066 1 42076915 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs7519983 1 42083369 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs1109255 1 42091708 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs2038976 1 42094498 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 EXON Silent,Silent rs4083593 1 42099583 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent exm2251698 1 42105488 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs11210508 1 42106935 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs7541348 1 42113215 [T/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs13375774 1 42114000 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs12141084 1 42117737 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent kgp9738681 1 42118766 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs10890160 1 42120011 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs2077354 1 42180082 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent exm2268882 1 42202714 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs2099757 1 42219601 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs12746339 1 42223133 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs2165303 1 42228019 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs6693668 1 42232085 [T/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs6680824 1 42236004 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs1533184 1 42238233 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs765040 1 42239717 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs349429 1 42242941 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs2492604 1 42253788 [A/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs400187 1 42255767 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs10493098 1 42261889 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs349454 1 42269458 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs401869 1 42281302 [A/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs168382 1 42296145 [A/G] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs12562508 1 42297236 [T/C] NM_024503,NM_001127714 HIVEP3,HIVEP3 Silent,Silent rs509814 1 42315945 [T/C] NM_024503,NM_001127714,NR_038260,NR_038261 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs12734651 1 42330585 [A/C] NM_024503,NM_001127714,NR_038260,NR_038261 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs783432 1 42335347 [A/C] NM_024503,NM_001127714,NR_038260,NR_038261 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs2993120 1 42350837 [A/C] NM_024503,NM_001127714,NR_038260,NR_038261 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs811461 1 42360713 [A/G] NM_024503,NM_001127714,NR_038260,NR_038261 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs783622 1 42366988 [A/G] NM_024503,NM_001127714,NR_038260,NR_038261 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs2764839 1 42368704 [A/G] NM_024503,NM_001127714,NR_038260,NR_038261 HIVEP3,HIVEP3,HIVEP3,HIVEP3 Silent,Silent,Silent,Silent rs12086766 1 42387990 [T/G] NR_038261 HIVEP3 Silent rs4660584 1 42390317 [T/C] NR_038261 HIVEP3 Silent rs653944 1 42424594 [A/G] NR_038261 HIVEP3 Silent rs4660590 1 42441288 [A/G] NR_038261 HIVEP3 Silent rs654961 1 42444975 [T/G] NR_038261 HIVEP3 Silent rs168341 1 42467921 [A/G] NR_038261 HIVEP3 Silent rs4660210 1 42476676 [T/C] NR_038261 HIVEP3 Silent rs6683904 1 42486843 [A/G] NR_038261 HIVEP3 Silent rs6689536 1 42487523 [T/C] NR_038261 HIVEP3 Silent rs4660600 1 42513929 [A/G] rs6691697 1 42534375 [A/G] rs10157817 1 42547061 [T/C] rs9943167 1 42551252 [A/G] rs1016867 1 42570803 [A/G] rs1024909 1 42571439 [T/C] rs6672120 1 42577444 [T/C] rs11210587 1 42580407 [A/G] rs7542228 1 42598964 [A/G] rs4660610 1 42616910 [A/G] rs12069432 1 42618740 [A/G] exm50511 1 42620492 [T/C] NM_007102 GUCA2B EXON Missense_P78S rs3818727 1 42621645 [A/G] 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 rs686247 1 42644770 [T/C] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Silent,Silent,Silent,Silent exm50557 1 42645389 [T/C] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_I587V,Missense_I621V,Missense_I621V,Missense_I621V exm50585 1 42657196 [T/G] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_T343P,Missense_T377P,Missense_T377P,Missense_T377P exm50587 1 42657223 [T/C] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_V334I,Missense_V368I,Missense_V368I,Missense_V368I exm50590 1 42657270 [T/C] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_S318N,Missense_S352N,Missense_S352N,Missense_S352N exm50599 1 42660679 [A/C] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_Q238H,Missense_Q272H,Missense_Q272H,Missense_Q272H exm50600 1 42660684 [A/G] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_P237S,Missense_P271S,Missense_P271S,Missense_P271S exm50608 1 42671431 [A/C] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent newrs148054297 1 42671432 [T/C] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent exm1810615 1 42671481 [A/C] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Silent,Missense_I194M,Missense_I194M,Missense_I194M exm50616 1 42693597 [A/G] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_V162A,Missense_V162A,Missense_V162A,Missense_V162A rs343376 1 42693597 [A/G] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Missense_V162A,Missense_V162A,Missense_V162A,Missense_V162A rs608277 1 42702344 [A/C] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs510157 1 42727950 [T/G] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent newrs145616593 1 42730809 [A/G] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Nonsense_R141X,Nonsense_R141X,Nonsense_R141X,Nonsense_R141X variant.2762 1 42744014 [T/C] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent exm2251739 1 42744214 [T/G] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 EXON Synonymous_A58A,Synonymous_A58A,Synonymous_A58A,Synonymous_A58A rs3754280 1 42748731 [A/C] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs10736423 1 42768969 [T/G] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent rs1566584 1 42797765 [A/G] NM_001198852,NM_001198850,NM_001198851,NM_014947 FOXJ3,FOXJ3,FOXJ3,FOXJ3 Silent,Silent,Silent,Silent exm2264829 1 42806191 [A/G] rs913426 1 42806191 [A/G] rs1536651 1 42823768 [A/G] rs6679533 1 42835396 [T/C] rs12119170 1 42856160 [T/C] NM_173642 RIMKLA Silent rs4660630 1 42864868 [T/C] NM_173642 RIMKLA Silent exm50639 1 42865200 [T/C] NM_173642 RIMKLA EXON Missense_R97W exm50644 1 42870265 [T/C] NM_173642 RIMKLA EXON Missense_R160W variant.2763 1 42875858 [A/G] NM_173642 RIMKLA EXON Missense_G229S rs7413966 1 42876423 [A/G] NM_173642 RIMKLA Silent rs7418303 1 42876696 [T/C] NM_173642 RIMKLA Silent 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 rs3748845 1 42901082 [A/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent variant.2766 1 42902087 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent exm50689 1 42902142 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_I113V,Missense_I223V rs7529199 1 42904304 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent exm50692 1 42905547 [A/G] NM_001146192,NM_032257 ZMYND12,ZMYND12 EXON Missense_R82C,Missense_R192C rs1002701 1 42913695 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent var_1_42914133 1 42914133 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent 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 rs16829544 1 42915764 [T/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent rs12039696 1 42918754 [A/C] NM_001146192,NM_032257 ZMYND12,ZMYND12 Silent,Silent variant.2769 1 42925448 [T/C] NM_001077447,NM_024664 PPCS,PPCS EXON Nonsense_R90X,Nonsense_R263X exm50749 1 42925453 [C/G] NM_001077447,NM_024664 PPCS,PPCS EXON Missense_Q91H,Missense_Q264H rs17379506 1 42955174 [A/G] rs11210656 1 42975123 [A/G] variant.2771 1 43002272 [T/G] NM_001080850 CCDC30 EXON Missense_E39D exm50763 1 43004873 [A/G] NM_001080850 CCDC30 EXON Missense_I49M indel.2772 1 43004895 [I/D] NM_001080850 CCDC30 EXON exm50769 1 43004958 [A/G] NM_001080850 CCDC30 EXON Missense_E78K exm50770 1 43004982 [A/G] NM_001080850 CCDC30 Silent variant.2774 1 43011225 [T/C] NM_001080850 CCDC30 EXON Nonsense_R134X rs12035932 1 43019135 [T/C] NM_001080850 CCDC30 Silent indel.2775 1 43021828 [D/I] NM_001080850 CCDC30 EXON exm50781 1 43021838 [A/G] NM_001080850 CCDC30 EXON Missense_G146E rs11210669 1 43024213 [T/G] NM_001080850 CCDC30 Silent rs4660646 1 43029788 [A/G] NM_001080850 CCDC30 Silent variant.2776 1 43031965 [A/G] NM_001080850 CCDC30 Silent rs2762697 1 43042125 [A/G] NM_001080850 CCDC30 Silent exm50802 1 43042767 [A/G] NM_001080850 CCDC30 EXON Missense_Y311C variant.2777 1 43042900 [A/G] NM_001080850 CCDC30 EXON Synonymous_K355K rs1016544 1 43045757 [T/C] NM_001080850 CCDC30 Silent rs2809658 1 43050396 [A/G] NM_001080850 CCDC30 Silent exm50811 1 43055036 [A/G] NM_001080850 CCDC30 EXON Missense_R422K rs6660322 1 43062732 [A/G] NM_001080850 CCDC30 Silent rs12025456 1 43073504 [T/C] NM_001080850 CCDC30 Silent rs6600414 1 43075687 [A/G] NM_001080850 CCDC30 Silent rs6600418 1 43101562 [T/C] NM_001080850 CCDC30 Silent exm50825 1 43102970 [T/C] NM_001080850 CCDC30 EXON Missense_T520I exm50826 1 43102987 [T/C] NM_001080850 CCDC30 EXON Nonsense_R526X rs1951918 1 43104952 [A/G] NM_001080850 CCDC30 Silent exm50830 1 43108172 [A/C] NM_001080850 CCDC30 EXON Missense_A556D exm50832 1 43108222 [A/G] NM_001080850 CCDC30 EXON Missense_I573V rs7523056 1 43110276 [A/G] NM_001080850 CCDC30 Silent exm50837 1 43110409 [A/T] NM_001080850 CCDC30 EXON Missense_S607R exm50843 1 43111889 [A/G] NM_001080850 CCDC30 EXON Missense_I658M newrs147914563 1 43119487 [A/C] NM_001080850 CCDC30 Silent variant.2782 1 43119529 [T/C] NM_001080850 CCDC30 EXON Nonsense_Q728X exm50855 1 43119661 [A/C] NM_001080850 CCDC30 EXON Missense_H772N rs12145700 1 43123855 [T/C] variant.2786 1 43125238 [T/G] NM_006347 PPIH Silent rs7556478 1 43131653 [A/G] NM_006347 PPIH EXON Synonymous_A113A 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 rs912074 1 43144021 [T/C] indel.2790 1 43149024 [I/D] NM_004559 YBX1 rs11210696 1 43155062 [T/G] NM_004559 YBX1 Silent rs10493113 1 43158510 [T/C] NM_004559 YBX1 Silent 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 rs7548008 1 43202095 [A/G] NM_001185117,NM_001123395,NM_148960 CLDN19,CLDN19,CLDN19 Silent,Silent,Silent rs10890212 1 43202636 [T/C] NM_001185117,NM_001123395,NM_148960 CLDN19,CLDN19,CLDN19 Silent,Silent,Silent 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_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_A691V,Silent,Missense_A691V exm50990 1 43213035 [T/C] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_T655A,Missense_T655A,Missense_T655A exm50991 1 43213068 [T/G] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_Q644K,Missense_Q644K,Missense_Q644K rs7552138 1 43213610 [T/C] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 Silent,Silent,Silent exm51004 1 43213903 [T/G] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_K602N,Missense_K602N,Missense_K602N exm51005 1 43213914 [T/C] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_V599M,Missense_V599M,Missense_V599M exm51012 1 43215917 [A/G] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_R554C,Missense_R554C,Missense_R554C exm51014 1 43215930 [T/C] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_M549I,Missense_M549I,Missense_M549I exm51016 1 43215952 [A/G] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_T542M,Missense_T542M,Missense_T542M variant.2800 1 43217944 [T/C] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 Silent,Silent,Silent exm51022 1 43217985 [T/C] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_N510S,Missense_N510S,Missense_N510S exm51024 1 43218010 [C/G] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_G502R,Missense_G502R,Missense_G502R exm51025 1 43218013 [A/G] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_R501W,Missense_R501W,Missense_R501W newrs114044880 1 43218203 [A/C] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 Silent,Silent,Silent exm51040 1 43220563 [T/C] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_D441G,Missense_D441G,Missense_D441G exm51047 1 43220642 [T/C] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_V415I,Missense_V415I,Missense_V415I exm51052 1 43220851 [A/G] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_L403S,Missense_L403S,Missense_L403S exm51058 1 43221302 [T/C] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_K363E,Missense_K363E,Missense_K363E indel.2803 1 43221309 [I/D] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 exm51061 1 43223453 [A/C] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 Silent,Silent,Silent exm51065 1 43223489 [T/C] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_G349R,Missense_G349R,Missense_G349R exm51079 1 43224953 [A/G] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_R243C,Missense_R243C,Missense_R243C exm51086 1 43225039 [T/C] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_R214Q,Missense_R214Q,Missense_R214Q exm51093 1 43228001 [T/G] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_P204H,Missense_P204H,Missense_P204H exm51108 1 43232504 [A/C] NM_001146289,NM_022356,NM_001243246 LEPRE1,LEPRE1,LEPRE1 EXON Missense_A47S,Missense_A47S,Missense_A47S exm1811184 1 43232562 [G/C] NM_001146289,NM_022356,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 rs17385526 1 43238031 [A/G] NM_024097,NR_040733 C1orf50,C1orf50 Silent,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 indel.2810 1 43239279 [I/D] NM_024097,NR_040733 C1orf50,C1orf50 EXON 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 rs719676 1 43254108 [A/G] NM_001242750 LOC100129924 Silent rs7547717 1 43261781 [T/G] NM_001242750 LOC100129924 Silent 1KG_1_43263770 1 43263770 [D/I] NM_001242750 LOC100129924 EXON rs323720 1 43271033 [T/C] variant.2813 1 43273061 [T/C] NM_199342 CCDC23 EXON 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 newrs144054863 1 43301431 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Synonymous_E193E,Synonymous_E193E variant.2817 1 43301433 [T/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_V194G,Missense_V194G variant.2818 1 43301435 [T/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_D195Y,Missense_D195Y indel.2820 1 43304589 [D/I] NM_001017922,NM_018538 ERMAP,ERMAP EXON exm51206 1 43305713 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R216Q,Missense_R216Q rs12034000 1 43305753 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP Silent,Silent variant.2821 1 43305945 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Nonsense_W230X,Nonsense_W230X 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 indel.2823 1 43308591 [I/D] NM_001017922,NM_018538 ERMAP,ERMAP EXON exm51241 1 43308650 [A/G] NM_001017922,NM_018538 ERMAP,ERMAP EXON Missense_R392H,Missense_R392H exm51242 1 43308702 [A/T] NM_001017922,NM_018538 ERMAP,ERMAP EXON Synonymous_L409L,Synonymous_L409L exm2251756 1 43308702 [A/T] NM_001017922,NM_018538 ERMAP,ERMAP EXON Synonymous_L409L,Synonymous_L409L variant.2824 1 43308713 [A/C] NM_001017922,NM_018538 ERMAP,ERMAP EXON Nonsense_S413X,Nonsense_S413X 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 rs9960 1 43317793 [A/G] NM_001242739,NM_015911 ZNF691,ZNF691 EXON Silent,Silent rs12136910 1 43326098 [T/C] rs12022524 1 43326208 [T/C] rs6674019 1 43353134 [T/G] rs12564800 1 43367726 [A/C] rs1098782 1 43381026 [A/G] rs11808693 1 43381734 [T/C] 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 rs3729548 1 43400352 [T/C] NM_006516 SLC2A1 Silent rs841852 1 43401499 [T/C] NM_006516 SLC2A1 Silent exm51361 1 43408984 [T/C] NM_006516 SLC2A1 EXON Synonymous_T9T rs2086856 1 43412259 [A/G] NM_006516 SLC2A1 Silent rs2297977 1 43415288 [T/G] NM_006516 SLC2A1 Silent rs17387775 1 43416133 [T/C] NM_006516 SLC2A1 Silent rs2297972 1 43418026 [T/C] NM_006516 SLC2A1 Silent rs3768045 1 43421524 [T/C] NM_006516 SLC2A1 Silent rs841572 1 43436051 [A/G] NR_033967 SLC2A1-AS1 EXON Silent rs3738516 1 43440201 [A/C] NR_033967 SLC2A1-AS1 Silent exm2268677 1 43450729 [T/C] rs7515271 1 43451901 [A/G] rs4660697 1 43458250 [T/C] rs2792599 1 43467068 [A/C] rs841568 1 43468555 [A/G] rs9326132 1 43471182 [T/G] rs607464 1 43536477 [A/G] rs1152771 1 43537981 [T/C] rs507481 1 43543617 [T/C] rs578598 1 43587725 [A/G] rs16830355 1 43595231 [A/G] exm-rs16830359 1 43596384 [A/G] exm2265003 1 43597014 [A/G] rs7518482 1 43597229 [T/C] rs558404 1 43602321 [T/C] rs626842 1 43610910 [T/G] rs627263 1 43611005 [A/G] exm51396 1 43613737 [A/G] NM_001101376 FAM183A EXON Missense_V39M rs10890239 1 43615173 [T/C] NM_001101376 FAM183A Silent var_1_43616475 1 43616475 [A/G] NM_001101376 FAM183A EXON Synonymous_L59L variant.2834 1 43616486 [T/C] NM_001101376 FAM183A EXON Missense_A63V 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_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Missense_N290I,Missense_N345I exm51420 1 43630460 [A/G] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Missense_R242W,Missense_R297W exm51423 1 43632536 [T/C] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Missense_R223H,Missense_R278H exm51424 1 43632537 [A/G] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Missense_R223C,Missense_R278C variant.2842 1 43636480 [A/G] NM_006824,NM_001159936 EBNA1BP2,EBNA1BP2 EXON Nonsense_R132X,Nonsense_R187X rs6695238 1 43638436 [T/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Synonymous_V4V,Synonymous_V4V,Synonymous_V4V exm51465 1 43638455 [A/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_V11I,Missense_V11I,Missense_V11I exm-rs621559 1 43645411 [A/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 Silent,Silent,Silent rs621559 1 43645411 [A/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 Silent,Silent,Silent exm51470 1 43647253 [A/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_R69Q,Missense_R69Q,Missense_R69Q exm51481 1 43647421 [A/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_Q125R,Missense_Q125R,Missense_Q125R exm51482 1 43647422 [C/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_Q125H,Missense_Q125H,Missense_Q125H exm51483 1 43647424 [T/C] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_T126M,Missense_T126M,Missense_T126M exm51487 1 43647483 [A/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_I146V,Missense_I146V,Missense_I146V exm51490 1 43649334 [T/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_A183S,Missense_A183S,Missense_A183S exm51496 1 43649424 [A/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_V213I,Missense_V213I,Missense_V213I exm51499 1 43649473 [A/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_R229H,Missense_R229H,Missense_R229H rs663824 1 43649508 [A/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_N241D,Missense_N241D,Missense_N241D exm51500 1 43649508 [A/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_N241D,Missense_N241D,Missense_N241D exm51512 1 43651024 [C/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_I322M,Missense_I322M,Missense_I322M exm51516 1 43652442 [C/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_C345S,Missense_C345S,Missense_C345S exm51528 1 43663342 [A/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_R414H,Missense_R414H,Missense_R414H exm51532 1 43664170 [C/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_K427N,Missense_K427N,Missense_K427N rs603123 1 43664218 [T/C] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Synonymous_H443H,Synonymous_H443H,Synonymous_H443H rs620418 1 43671182 [A/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 Silent,Silent,Silent exm51547 1 43672394 [T/C] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_R516C,Missense_R516C,Missense_R516C exm51553 1 43672499 [A/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_V551M,Missense_V551M,Missense_V551M exm51557 1 43672574 [T/C] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_H576Y,Missense_H576Y,Missense_H576Y newrs146369173 1 43672605 [T/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 Silent,Silent,Silent variant.2849 1 43675420 [T/C] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Nonsense_R588X,Nonsense_R588X,Nonsense_R588X exm51565 1 43675478 [A/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_R607H,Missense_R607H,Missense_R607H exm51566 1 43675499 [T/C] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_S614L,Missense_S614L,Missense_S614L exm51568 1 43675513 [T/C] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_R619C,Missense_R619C,Missense_R619C exm51569 1 43675514 [A/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Missense_R619H,Missense_R619H,Missense_R619H exm51576 1 43675657 [A/G] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON Silent,Missense_T667A,Missense_T667A indel.2851 1 43675679 [I/D] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON indel.2852 1 43675747 [I/D] NM_001195831,NM_152498,NM_001167965 WDR65,WDR65,WDR65 EXON rs611261 1 43681872 [T/C] NM_001195831 WDR65 Silent rs522909 1 43696080 [T/G] NM_001195831 WDR65 Silent rs7556572 1 43704023 [A/G] NM_001195831 WDR65 Silent rs10493115 1 43707283 [T/C] NM_001195831 WDR65 Silent rs3862226 1 43707556 [A/C] NM_001195831 WDR65 Silent 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 rs2991996 1 43741713 [A/G] rs4660727 1 43746448 [T/C] exm51655 1 43748549 [A/C] NM_182517,NM_001164829 C1orf210,C1orf210 EXON Missense_D83E,Missense_D83E exm51662 1 43748701 [T/C] NM_182517,NM_001164829 C1orf210,C1orf210 EXON Missense_V33M,Missense_V33M exm51665 1 43748757 [T/A] NM_182517,NM_001164829 C1orf210,C1orf210 EXON Missense_L14H,Missense_L14H exm51666 1 43748763 [A/G] NM_182517,NM_001164829 C1orf210,C1orf210 EXON Missense_S12L,Missense_S12L exm51669 1 43748937 [T/C] NM_182517,NM_001164829 C1orf210,C1orf210 EXON Missense_N2S,Missense_N2S rs6690113 1 43757955 [A/G] exm51673 1 43766753 [A/G] NM_005424,NM_001253357 TIE1,TIE1 EXON Missense_R4Q,Silent rs7527092 1 43767138 [A/G] NM_005424,NM_001253357 TIE1,TIE1 Silent,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 rs1467809 1 43774437 [A/G] NM_005424,NM_001253357 TIE1,TIE1 Silent,Silent 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 indel.2866 1 43783610 [D/I] NM_005424,NM_001253357 TIE1,TIE1 EXON 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 rs11210834 1 43787437 [A/G] NM_005424,NM_001253357 TIE1,TIE1 Silent,Silent 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 var_1_43804304 1 43804304 [T/C] NM_005373 MPL EXON Missense_R102C exm51879 1 43804340 [A/G] NM_005373 MPL EXON Missense_V114M indel.2875 1 43804376 [I/D] NM_005373 MPL EXON 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 variant.2878 1 43805802 [T/G] NM_005373 MPL Silent 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 var_1_43812573 1 43812573 [T/C] NM_005373 MPL EXON Nonsense_R426X 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 rs710251 1 43826312 [A/C] NM_001255 CDC20 Silent variant.2896 1 43826519 [T/C] NM_001255 CDC20 EXON Nonsense_R322X exm52000 1 43826794 [A/G] NM_001255 CDC20 EXON Missense_V361I variant.2898 1 43827984 [T/G] NM_001255 CDC20 Silent exm52012 1 43828736 [A/G] NM_001255 CDC20 EXON Missense_R479Q exm52042 1 43831268 [T/C] NR_046117,NM_001256402,NM_001256401,NM_001256399,NM_022821 ELOVL1,ELOVL1,ELOVL1,ELOVL1,ELOVL1 EXON Silent,Silent,Missense_V5M,Missense_V5M,Missense_V5M exm52044 1 43831295 [A/C] NR_046117,NM_001256402,NM_001256401,NM_001256399,NM_022821 ELOVL1,ELOVL1,ELOVL1,ELOVL1,ELOVL1 Silent,Silent,Silent,Silent,Silent exm52047 1 43850140 [A/G] NM_201542,NM_001001653,NM_052877 MED8,MED8,MED8 EXON Silent,Silent,Missense_A296V exm52051 1 43850183 [A/G] NM_201542,NM_001001653,NM_052877 MED8,MED8,MED8 EXON Silent,Silent,Missense_R282C exm52057 1 43851661 [T/C] NM_201542,NM_001001653,NM_052877 MED8,MED8,MED8 EXON Missense_A244T,Missense_A155T,Missense_A244T exm52059 1 43851729 [T/G] NM_201542,NM_001001653,NM_052877 MED8,MED8,MED8 EXON Missense_Q221P,Missense_Q132P,Missense_Q221P exm52067 1 43852334 [A/G] NM_201542,NM_001001653,NM_052877 MED8,MED8,MED8 EXON Missense_I140T,Missense_I51T,Missense_I140T variant.2903 1 43853174 [T/C] NM_201542,NM_001001653,NM_052877 MED8,MED8,MED8 EXON Missense_M90I,Missense_M1I,Missense_M90I rs839752 1 43855546 [A/G] exm1812185 1 43868957 [T/C] NM_015284 SZT2 EXON Missense_T46I exm52100 1 43870091 [A/G] NM_015284 SZT2 EXON Missense_H123R rs839769 1 43872067 [T/C] NM_015284 SZT2 Silent 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 variant.2907 1 43893242 [T/C] NM_015284 SZT2 EXON Nonsense_R1157X 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 rs2842180 1 43901916 [T/C] NM_015284 SZT2 Silent 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 var_1_43903373 1 43903373 [T/C] NM_015284 SZT2 Silent 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_001190880,NM_031207,NM_001243526 SZT2,HYI,HYI,HYI EXON Silent,Missense_R270W,Silent,Silent exm52521 1 43916939 [A/C] NM_015284,NM_001190880,NM_031207,NM_001243526 SZT2,HYI,HYI,HYI EXON Silent,Missense_D268E,Silent,Silent indel.2925 1 43917074 [I/D] NM_015284,NM_001190880,NM_031207,NM_001243526 SZT2,HYI,HYI,HYI EXON exm52524 1 43917083 [T/C] NM_015284,NM_001190880,NM_031207,NM_001243526 SZT2,HYI,HYI,HYI EXON Silent,Missense_R253Q,Silent,Silent exm52526 1 43917098 [C/G] NM_015284,NM_001190880,NM_031207,NM_001243526 SZT2,HYI,HYI,HYI EXON Silent,Missense_C248S,Silent,Silent exm52539 1 43917469 [A/C] NM_015284,NM_001190880,NM_031207,NM_001243526 SZT2,HYI,HYI,HYI EXON Silent,Missense_M185I,Missense_M185I,Missense_M210I var_1_43917504 1 43917504 [A/G] NM_015284,NM_001190880,NM_031207,NM_001243526 SZT2,HYI,HYI,HYI EXON Silent,Nonsense_Q174X,Nonsense_Q174X,Nonsense_Q199X exm52544 1 43917518 [A/G] NM_015284,NM_001190880,NM_031207,NM_001243526 SZT2,HYI,HYI,HYI EXON Silent,Missense_A169V,Missense_A169V,Missense_A194V exm52557 1 43917895 [C/G] NM_015284,NM_001190880,NM_031207,NM_001243526 SZT2,HYI,HYI,HYI EXON Silent,Missense_A136G,Missense_A136G,Missense_A161G exm52566 1 43919066 [T/C] NM_015284,NM_001190880,NM_031207,NM_001243526 SZT2,HYI,HYI,HYI EXON Silent,Missense_G101D,Missense_G101D,Silent rs7413861 1 43938801 [A/C] rs2039529 1 43960479 [A/G] rs882464 1 43974764 [T/G] rs11210858 1 43978837 [T/C] rs2842189 1 44007648 [T/C] NM_130440,NM_002840 PTPRF,PTPRF Silent,Silent rs11580074 1 44024484 [A/G] NM_130440,NM_002840 PTPRF,PTPRF Silent,Silent rs1065771 1 44035352 [T/C] NM_130440,NM_002840 PTPRF,PTPRF EXON Synonymous_A157A,Synonymous_A157A exm52606 1 44035417 [T/C] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_T179M,Missense_T179M rs752963 1 44045294 [A/G] NM_130440,NM_002840 PTPRF,PTPRF Silent,Silent rs10789437 1 44050747 [T/G] NM_130440,NM_002840 PTPRF,PTPRF Silent,Silent exm52630 1 44054530 [A/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_E270K,Missense_E270K exm52631 1 44054572 [A/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_V284I,Missense_V284I exm2264830 1 44054994 [A/G] NM_130440,NM_002840 PTPRF,PTPRF Silent,Silent exm52641 1 44056756 [T/C] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_R355C,Missense_R355C exm52642 1 44056759 [T/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_A356S,Missense_A356S exm52643 1 44056763 [T/C] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_A357V,Missense_A357V exm52651 1 44056889 [T/C] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_P399L,Missense_P399L exm52657 1 44057042 [A/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_Y450C,Missense_Y450C exm52671 1 44057497 [A/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_A516T,Missense_A516T exm52673 1 44057543 [T/C] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_S531L,Missense_S531L exm52675 1 44057557 [G/C] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_P536A,Missense_P536A exm52682 1 44058143 [A/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_D562N,Missense_D562N exm52690 1 44058233 [A/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_V592I,Missense_V592I exm2233428 1 44063613 [A/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_D670N,Missense_D670N exm1812668 1 44063670 [T/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_D689Y,Missense_D689Y exm52716 1 44064516 [A/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_V749M,Missense_V749M exm52718 1 44064534 [A/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_E755K,Missense_E755K rs596522 1 44066424 [A/C] NM_130440,NM_002840 PTPRF,PTPRF Silent,Silent exm52745 1 44069425 [A/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_I859V,Missense_I868V exm52748 1 44069464 [A/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_G872S,Missense_G881S exm52750 1 44069495 [T/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_R882L,Missense_R891L exm52758 1 44069636 [T/C] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_P929L,Missense_P938L exm52759 1 44069648 [T/C] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_A933V,Missense_A942V exm52766 1 44069810 [A/C] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_S987Y,Missense_S996Y exm52784 1 44071105 [T/C] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_S1118L,Missense_S1127L exm52807 1 44072122 [T/C] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_M1223T,Missense_M1232T rs539096 1 44072420 [A/G] NM_130440,NM_002840 PTPRF,PTPRF Silent,Silent exm52811 1 44072558 [T/C] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_P1250L,Missense_P1259L variant.2941 1 44072641 [T/C] NM_130440,NM_002840 PTPRF,PTPRF Silent,Silent exm52815 1 44075054 [A/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Synonymous_R1277R,Synonymous_R1286R rs11210887 1 44076019 [A/G] NM_130440,NM_002840 PTPRF,PTPRF Silent,Silent exm52830 1 44083200 [T/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_A1377S,Missense_A1386S exm1812727 1 44084819 [A/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_R1522Q,Missense_R1531Q exm2233430 1 44084975 [A/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_T1546A,Missense_T1555A exm52866 1 44085143 [A/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_G1602S,Missense_G1611S exm52867 1 44085167 [T/A] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_N1610Y,Missense_N1619Y exm52868 1 44085173 [T/C] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_Y1612H,Missense_Y1621H exm52869 1 44085194 [A/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_G1619S,Missense_G1628S exm52880 1 44085844 [A/C] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_H1721Q,Missense_H1730Q exm52908 1 44087628 [A/G] NM_130440,NM_002840 PTPRF,PTPRF EXON Missense_R1884H,Missense_R1893H rs660899 1 44117006 [T/G] NM_014663 KDM4A Silent exm52919 1 44118920 [A/G] NM_014663 KDM4A EXON Missense_R25Q exm52927 1 44121415 [T/C] NM_014663 KDM4A EXON Missense_R98C rs10789439 1 44123191 [T/C] NM_014663 KDM4A Silent exm52932 1 44125982 [T/C] NM_014663 KDM4A EXON Missense_R110C rs489319 1 44131794 [T/C] NM_014663 KDM4A Silent indel.2942 1 44132130 [D/I] NM_014663 KDM4A EXON 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 rs586339 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 var_1_44149475 1 44149475 [T/G] NM_014663 KDM4A EXON Nonsense_E619X rs6697354 1 44151015 [T/G] NM_014663 KDM4A Silent 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 rs7553982 1 44159431 [T/C] NM_014663 KDM4A Silent variant.2944 1 44160565 [A/G] NM_014663 KDM4A EXON Synonymous_E890E exm53032 1 44169691 [A/G] NM_014663,NR_033827 KDM4A,KDM4A-AS1 EXON Missense_V988M,Silent rs7528454 1 44174081 [A/G] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 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 exm2251787 1 44202014 [A/G] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent exm53042 1 44202014 [A/G] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Silent,Synonymous_A27A,Synonymous_A27A,Synonymous_A27A,Silent exm53045 1 44202061 [C/G] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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,Missense_S43T,Silent,Missense_S43T,Silent,Missense_S43T,Silent,Silent,Missense_S43T,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_S43T,Silent,Silent rs1472661 1 44209075 [T/C] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 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 rs7546818 1 44245670 [A/G] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 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 rs3791051 1 44252908 [T/C] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 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 newrs148531289 1 44257821 [A/G] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 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 rs11210924 1 44261195 [A/G] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 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 rs975761 1 44264435 [T/C] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 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 rs246776 1 44274699 [T/C] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 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 exm53051 1 44290403 [T/C] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 Synonymous_L70L,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_L54L,Synonymous_L85L,Silent,Silent exm53060 1 44290530 [A/G] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 Missense_T113A,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T97A,Missense_T128A,Silent,Silent rs37458 1 44290530 [A/G] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 Missense_T113A,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_T97A,Missense_T128A,Silent,Silent rs3011225 1 44319373 [A/G] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 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 rs2527776 1 44345292 [A/G] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 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 exm53063 1 44360055 [T/G] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 Synonymous_R155R,Synonymous_R85R,Synonymous_R101R,Synonymous_R100R,Silent,Synonymous_R116R,Synonymous_R101R,Synonymous_R116R,Synonymous_L70L,Synonymous_R101R,Synonymous_R100R,Silent,Silent,Synonymous_R85R,Silent,Synonymous_L54L,Silent,Synonymous_R85R,Silent,Synonymous_R101R,Silent,Synonymous_R139R,Synonymous_R170R,Synonymous_R85R,Silent exm53065 1 44360114 [A/G] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 Missense_R175Q,Missense_R105Q,Missense_R121Q,Missense_R120Q,Silent,Missense_R136Q,Missense_R121Q,Missense_R136Q,Missense_R90Q,Missense_R121Q,Missense_R120Q,Silent,Silent,Missense_R105Q,Silent,Missense_R74Q,Silent,Missense_R105Q,Silent,Missense_R121Q,Silent,Missense_R159Q,Missense_R190Q,Missense_R105Q,Silent exm53069 1 44363909 [T/A] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 Missense_N188Y,Missense_N118Y,Silent,Missense_N133Y,Silent,Missense_N149Y,Missense_N134Y,Silent,Missense_N103Y,Missense_N134Y,Missense_N133Y,Silent,Silent,Missense_N118Y,Silent,Missense_N87Y,Silent,Silent,Silent,Missense_N134Y,Silent,Missense_N172Y,Missense_N203Y,Missense_N118Y,Silent exm2251792 1 44365273 [T/C] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 Synonymous_R260R,Silent,Silent,Silent,Silent,Synonymous_R221R,Synonymous_R206R,Silent,Synonymous_R175R,Synonymous_R206R,Silent,Silent,Silent,Synonymous_R190R,Silent,Synonymous_R159R,Silent,Silent,Silent,Synonymous_R206R,Silent,Synonymous_R244R,Synonymous_R275R,Synonymous_R190R,Silent rs6674176 1 44379957 [A/G] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 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 exm53083 1 44386079 [C/G] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 Missense_A304P,Silent,Silent,Silent,Silent,Missense_A265P,Silent,Silent,Missense_A219P,Missense_A250P,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_A288P,Missense_A319P,Missense_A234P,Silent exm53086 1 44386113 [A/G] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 Missense_R315Q,Silent,Silent,Silent,Silent,Missense_R276Q,Silent,Silent,Missense_R230Q,Missense_R261Q,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R299Q,Missense_R330Q,Missense_R245Q,Silent rs3120803 1 44386615 [A/G] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 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 rs16831424 1 44387353 [T/C] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 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 exm53109 1 44395835 [A/T] NM_174968,NM_001270464,NM_174967,NM_001270463,NM_001270466,NM_174964,NM_174966,NM_174965,NM_001270460,NM_006279,NM_001270465,NR_073020,NR_073021,NM_001270461,NR_073019,NM_001270462,NR_073016,NM_174970,NR_073023,NM_001270459,NR_073018,NM_174971,NM_174963,NM_174969,NR_073017 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 Missense_E411V,Missense_S181C,Missense_R143S,Missense_S196C,Missense_S96C,Missense_E372V,Missense_E259V,Missense_R158S,Missense_E326V,Missense_E357V,Silent,Silent,Silent,Missense_E243V,Silent,Missense_E212V,Silent,Missense_R127S,Silent,Missense_E327V,Silent,Missense_E395V,Missense_E426V,Missense_E341V,Silent 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 rs783308 1 44438396 [A/C] NM_001384,NM_001039589 DPH2,DPH2 EXON Silent,Silent rs7161 1 44438974 [T/C] NM_001384,NM_001039589 DPH2,DPH2 EXON Silent,Silent exm53325 1 44442857 [C/G] NM_004047,NM_001039457 ATP6V0B,ATP6V0B EXON Missense_G187A,Missense_G140A rs3762423 1 44445667 [T/C] NM_003780,NM_030587 B4GALT2,B4GALT2 EXON Silent,Silent 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 indel.2963 1 44456008 [D/I] NM_003780,NM_030587,NM_001005417 B4GALT2,B4GALT2,B4GALT2 EXON 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 indel.2975 1 44459613 [D/I] NM_152499 CCDC24 EXON exm2233434 1 44461331 [G/C] NM_152499 CCDC24 EXON Missense_P204R indel.2976 1 44461470 [D/I] NM_152499 CCDC24 EXON indel.2977 1 44461479 [D/I] NM_152499 CCDC24 EXON 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] NM_001024845,NM_001261380,NR_048549,NM_006934,NM_201649,NR_048548 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Missense_G604S,Missense_G608S,Silent,Missense_G623S,Missense_G677S,Silent exm53469 1 44463398 [A/G] NM_001024845,NM_001261380,NR_048549,NM_006934,NM_201649,NR_048548 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Missense_A574V,Missense_A578V,Silent,Missense_A593V,Missense_A647V,Silent variant.2984 1 44463698 [T/C] NM_001024845,NM_001261380,NR_048549,NM_006934,NM_201649,NR_048548 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent,Silent,Silent exm53489 1 44466494 [A/G] NM_001024845,NM_001261380,NR_048549,NM_006934,NM_201649,NR_048548 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Missense_P494L,Missense_P498L,Silent,Missense_P513L,Missense_P567L,Silent exm53502 1 44467117 [A/G] NM_001024845,NM_001261380,NR_048549,NM_006934,NM_201649,NR_048548 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Missense_P382L,Missense_P386L,Silent,Missense_P401L,Missense_P455L,Silent exm53507 1 44467259 [T/C] NM_001024845,NM_001261380,NR_048549,NM_006934,NM_201649,NR_048548 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Missense_V335I,Missense_V339I,Silent,Missense_V354I,Missense_V408I,Silent exm2233436 1 44467986 [A/G] NM_001024845,NM_001261380,NR_048549,NM_006934,NM_201649,NR_048548 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Missense_R321W,Missense_R325W,Silent,Missense_R340W,Missense_R394W,Silent exm53530 1 44474098 [T/C] NM_001024845,NM_001261380,NR_048549,NM_006934,NM_201649,NR_048548 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Missense_A173T,Missense_A177T,Silent,Missense_A192T,Missense_A246T,Silent exm53534 1 44474143 [T/C] NM_001024845,NM_001261380,NR_048549,NM_006934,NM_201649,NR_048548 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Missense_G158S,Missense_G162S,Silent,Missense_G177S,Missense_G231S,Silent rs1766967 1 44475586 [A/G] NM_001024845,NM_001261380,NR_048549,NM_006934,NM_201649,NR_048548 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 Silent,Silent,Silent,Silent,Silent,Silent exm53548 1 44477251 [G/C] NM_001024845,NM_001261380,NR_048549,NM_006934,NM_201649,NR_048548 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Silent,Silent,Silent,Missense_H77Q,Silent exm53562 1 44482771 [T/C] NM_001024845,NM_001261380,NR_048549,NM_006934,NM_201649,NR_048548 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_R12H,Silent,Missense_R12H,Missense_R12H,Silent exm53568 1 44482799 [T/C] NM_001024845,NM_001261380,NR_048549,NM_006934,NM_201649,NR_048548 SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9,SLC6A9 EXON Silent,Missense_G3S,Silent,Missense_G3S,Missense_G3S,Silent exm2260323 1 44487280 [T/C] NM_001024845,NR_048549 SLC6A9,SLC6A9 Silent,Silent rs1978195 1 44499242 [A/G] rs751442 1 44509551 [A/C] rs6693689 1 44511409 [A/C] rs942756 1 44522274 [T/C] rs12759480 1 44529157 [T/C] rs7519215 1 44532725 [A/G] rs11210949 1 44535401 [T/C] rs2025615 1 44559401 [A/G] rs1291050 1 44571434 [A/G] rs663818 1 44578559 [T/C] rs6682866 1 44578764 [A/C] exm1813276 1 44584638 [A/G] NM_173484 KLF17 EXON Missense_Q20R exm53580 1 44595047 [A/T] NM_173484 KLF17 EXON Missense_I35N exm53584 1 44595113 [C/G] NM_173484 KLF17 EXON Missense_S57T rs6656945 1 44595183 [T/G] NM_173484 KLF17 EXON Missense_Q80H 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 rs2485652 1 44595410 [A/G] NM_173484 KLF17 EXON Missense_N156S 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 rs2254746 1 44598760 [A/G] NM_173484 KLF17 Silent rs6675129 1 44610760 [A/G] rs11576516 1 44656429 [T/C] rs803371 1 44666345 [T/C] exm53666 1 44683998 [G/C] NM_019100,NM_001034023,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_V137L,Missense_V137L,Missense_V137L exm53677 1 44684309 [A/C] NM_019100,NM_001034023,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_K201T,Missense_K201T,Missense_K201T exm53687 1 44684855 [A/G] NM_019100,NM_001034023,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_R283H,Missense_R283H,Missense_R283H exm53698 1 44685695 [A/G] NM_019100,NM_001034023,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_S353N,Missense_S353N,Missense_S353N exm53700 1 44685725 [T/C] NM_019100,NM_001034023,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_M363T,Missense_M363T,Missense_M363T exm2233440 1 44685747 [C/G] NM_019100,NM_001034023,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_D370E,Missense_D370E,Missense_D370E exm53705 1 44685854 [A/G] NM_019100,NM_001034023,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_G406D,Missense_G406D,Missense_G406D exm53707 1 44685884 [T/C] NM_019100,NM_001034023,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_P416L,Missense_P416L,Missense_P416L exm53709 1 44685886 [A/G] NM_019100,NM_001034023,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_A417T,Missense_A417T,Missense_A417T exm2273646 1 44685913 [T/C] NM_019100,NM_001034023,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_P426S,Missense_P426S,Missense_P426S exm1813324 1 44685926 [T/C] NM_019100,NM_001034023,NM_001034024 DMAP1,DMAP1,DMAP1 EXON Missense_P430L,Missense_P430L,Missense_P430L exm2251803 1 44687242 [T/C] NM_024066 ERI3 EXON Synonymous_S334S rs11589379 1 44709218 [A/G] NM_024066 ERI3 Silent rs459358 1 44745624 [T/C] NM_024066 ERI3 Silent rs6697117 1 44772093 [A/G] NM_024066 ERI3 Silent rs325145 1 44772626 [T/G] NM_024066 ERI3 Silent exm2251807 1 44785393 [T/C] NM_024066 ERI3 EXON Synonymous_L171L exm53745 1 44804892 [T/C] NM_024066 ERI3 EXON Missense_H105R rs4660275 1 44844958 [A/G] rs3915854 1 44858169 [T/C] 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 rs12022308 1 44891488 [T/C] NM_018150 RNF220 Silent rs6429540 1 44902285 [A/G] NM_018150 RNF220 Silent rs16831963 1 44911632 [A/G] NM_018150 RNF220 Silent rs7553056 1 44911812 [A/G] NM_018150 RNF220 Silent rs6664827 1 44925508 [A/G] NM_018150 RNF220 Silent rs1890948 1 44929865 [A/G] NM_018150 RNF220 Silent rs11211006 1 44937974 [T/C] NM_018150 RNF220 Silent rs7549585 1 44947616 [A/G] NM_018150 RNF220 Silent rs781783 1 44951085 [T/C] NM_018150 RNF220 Silent rs7354900 1 44957986 [A/G] NM_018150 RNF220 Silent rs781770 1 44974119 [T/C] NM_018150 RNF220 Silent rs272531 1 44988433 [A/G] NM_018150 RNF220 Silent rs270724 1 44991278 [A/G] NM_018150 RNF220 Silent rs782135 1 44994835 [T/C] NM_018150 RNF220 Silent rs175222 1 45019240 [T/G] NM_018150 RNF220 Silent rs270764 1 45024342 [A/G] NM_018150 RNF220 Silent rs10158231 1 45035621 [A/G] NM_018150 RNF220 Silent exm2260330 1 45047805 [T/C] NM_018150 RNF220 Silent rs270709 1 45050047 [T/C] NM_018150 RNF220 Silent exm2268679 1 45051656 [T/C] NM_018150 RNF220 Silent rs928685 1 45053760 [T/G] NM_018150 RNF220 Silent rs6704426 1 45067435 [T/C] NM_018150 RNF220 Silent exm53800 1 45098016 [C/G] NM_018150 RNF220 EXON Missense_T303S rs2236219 1 45101478 [T/C] NM_018150 RNF220 Silent 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 rs3850853 1 45125356 [T/C] NM_024587 TMEM53 Silent rs6683133 1 45133561 [A/G] NM_024587 TMEM53 Silent rs4660818 1 45139252 [A/C] NM_024587 TMEM53 Silent exm53902 1 45140038 [A/G] NM_024587 TMEM53 EXON Missense_T9I newrs142681287 1 45155551 [A/G] NM_001145636 C1orf228 EXON Missense_R61H exm53909 1 45162818 [C/G] NM_001145636 C1orf228 EXON Missense_G84A newrs185823968 1 45166594 [A/G] NM_001145636 C1orf228 Silent exm53912 1 45166717 [C/G] NM_001145636 C1orf228 EXON Missense_G189R rs12088087 1 45170012 [A/G] NM_001145636 C1orf228 Silent rs10890313 1 45175925 [A/G] NM_001145636 C1orf228 Silent 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 newrs151183655 1 45213158 [A/G] NM_006845 KIF2C Silent variant.3000 1 45223644 [A/G] NM_006845 KIF2C Silent 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 rs12746270 1 45228580 [T/C] NM_006845 KIF2C Silent exm54021 1 45232574 [T/C] NM_006845 KIF2C EXON Missense_A683V exm54024 1 45232619 [A/G] NM_006845 KIF2C EXON Missense_R698Q rs11211031 1 45241113 [T/C] exm54100 1 45250841 [A/G] NM_153274 BEST4 EXON Missense_P284L newrs144370787 1 45251349 [A/C] NM_153274 BEST4 Silent variant.3007 1 45251901 [T/C] NM_153274 BEST4 Silent 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 rs12057238 1 45258141 [A/C] 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 newrs141933667 1 45269063 [A/G] NM_004073 PLK3 EXON Missense_S358G 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 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 rs2295996 1 45292866 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 EXON Synonymous_D829D,Synonymous_D829D 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 rs11573562 1 45301735 [A/G] NM_001166292,NM_003738 PTCH2,PTCH2 Silent,Silent rs6429550 1 45311749 [A/G] rs6694697 1 45315319 [T/C] rs10159318 1 45322291 [A/G] NM_020365,NM_001261418 EIF2B3,EIF2B3 Silent,Silent exm54519 1 45340342 [A/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Silent,Silent,Missense_S404A newrs113994026 1 45340358 [I/D] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON exm54520 1 45340416 [C/G] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_C379S,Missense_C379S,Missense_C379S rs263955 1 45340703 [T/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent 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 var_1_45345595 1 45345595 [T/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Nonsense_W290X,Nonsense_W290X,Nonsense_W290X exm54537 1 45345632 [T/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_Y278C,Missense_Y278C,Missense_Y278C var_1_45347394 1 45347394 [T/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_R225Q,Missense_R225Q,Missense_R225Q rs263975 1 45358527 [T/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent exm2251836 1 45363092 [T/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Synonymous_T197T,Synonymous_T197T,Synonymous_T197T rs1572379 1 45369086 [A/G] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent 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 rs12407565 1 45416900 [A/G] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent rs452989 1 45417184 [T/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent rs17390983 1 45432392 [T/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent var_1_45444021 1 45444021 [A/G] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_A87V,Missense_A87V,Missense_A87V exm54569 1 45444057 [A/G] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 EXON Missense_I75T,Missense_I75T,Missense_I75T rs264025 1 45444996 [T/C] NM_020365,NM_001261418,NM_001166588 EIF2B3,EIF2B3,EIF2B3 Silent,Silent,Silent 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 rs4399199 1 45457278 [T/C] exm2264831 1 45460832 [A/G] rs6666806 1 45466927 [A/C] 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 rs7541207 1 45474008 [T/C] NM_024602 HECTD3 Silent 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 rs3806405 1 45476489 [A/G] NM_024602 HECTD3 Silent exm54694 1 45476563 [T/C] NM_024602 HECTD3 EXON Missense_K123E variant.3034 1 45477940 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_M1I,Silent exm1814818 1 45478832 [A/G] NM_000374,NR_036510 UROD,UROD EXON Missense_Q53R,Silent variant.3037 1 45478988 [T/G] NM_000374,NR_036510 UROD,UROD EXON Missense_A80S,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 newrs150702733 1 45479585 [T/C] NM_000374,NR_036510 UROD,UROD EXON Missense_T160I,Silent exm2251840 1 45479709 [A/G] NM_000374,NR_036510 UROD,UROD EXON Synonymous_P201P,Silent indel.3040 1 45479743 [I/D] NM_000374,NR_036510 UROD,UROD 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 variant.3050 1 45508984 [A/G] NM_020883 ZSWIM5 EXON Nonsense_R506X exm54838 1 45509001 [T/C] NM_020883 ZSWIM5 EXON Missense_Q500R variant.3051 1 45509047 [A/G] NM_020883 ZSWIM5 EXON Nonsense_R485X exm54846 1 45524311 [T/C] NM_020883 ZSWIM5 EXON Missense_D408N exm54851 1 45524416 [A/G] NM_020883 ZSWIM5 EXON Missense_R373W variant.3053 1 45525920 [A/C] NM_020883 ZSWIM5 Silent rs16832411 1 45529693 [A/G] NM_020883 ZSWIM5 Silent 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 rs12063926 1 45596831 [A/C] NM_020883 ZSWIM5 Silent rs3009969 1 45645069 [T/C] NM_020883 ZSWIM5 Silent exm54885 1 45671736 [T/C] NM_020883 ZSWIM5 EXON Missense_R96H exm54887 1 45671808 [A/G] NM_020883 ZSWIM5 EXON Missense_T72M rs11211086 1 45710771 [T/G] rs3121730 1 45716285 [T/G] rs11211091 1 45757124 [T/C] rs4233496 1 45763650 [A/C] rs12026893 1 45788479 [A/G] 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_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_R506Q,Missense_R507Q,Missense_R534Q,Missense_R531Q,Missense_R506Q,Missense_R520Q exm54953 1 45795040 [A/C] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_D502Y,Missense_D503Y,Missense_D530Y,Missense_D527Y,Missense_D502Y,Missense_D516Y exm54959 1 45795084 [A/G] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_S487F,Missense_S488F,Missense_S515F,Missense_S512F,Missense_S487F,Missense_S501F exm54967 1 45796852 [A/G] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent newrs121908381 1 45796892 [A/C] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Nonsense_E452X,Nonsense_E453X,Nonsense_E480X,Nonsense_E477X,Nonsense_E452X,Nonsense_E466X exm1815462 1 45796912 [T/G] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_A445D,Missense_A446D,Missense_A473D,Missense_A470D,Missense_A445D,Missense_A459D variant.3062 1 45796969 [T/G] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_Q426P,Missense_Q427P,Missense_Q454P,Missense_Q451P,Missense_Q426P,Missense_Q440P variant.3063 1 45797092 [T/C] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Synonymous_E413E,Synonymous_E414E,Synonymous_E441E,Synonymous_E438E,Synonymous_E413E,Synonymous_E427E exm54981 1 45797139 [A/G] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_R398C,Missense_R399C,Missense_R426C,Missense_R423C,Missense_R398C,Missense_R412C exm54983 1 45797157 [T/G] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_L392M,Missense_L393M,Missense_L420M,Missense_L417M,Missense_L392M,Missense_L406M exm54989 1 45797228 [T/C] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_G368D,Missense_G369D,Missense_G396D,Missense_G393D,Missense_G368D,Missense_G382D exm2233468 1 45797401 [A/G] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_A345V,Missense_A346V,Missense_A373V,Missense_A370V,Missense_A345V,Missense_A359V exm54991 1 45797429 [A/G] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_R336C,Missense_R337C,Missense_R364C,Missense_R361C,Missense_R336C,Missense_R350C exm54997 1 45797506 [T/C] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_Q310R,Missense_Q311R,Missense_Q338R,Missense_Q335R,Missense_Q310R,Missense_Q324R exm1815471 1 45797760 [T/C] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent exm55002 1 45797839 [T/C] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_R283K,Missense_R284K,Missense_R311K,Missense_R308K,Missense_R283K,Missense_R297K exm55003 1 45797846 [A/G] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_R281C,Missense_R282C,Missense_R309C,Missense_R306C,Missense_R281C,Missense_R295C exm55014 1 45798117 [T/C] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_R217H,Missense_R218H,Missense_R245H,Missense_R242H,Missense_R217H,Missense_R231H exm55024 1 45798269 [T/C] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_I195V,Missense_I196V,Missense_I223V,Missense_I220V,Missense_I195V,Missense_I209V exm55031 1 45798475 [T/C] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_Y151C,Missense_Y152C,Missense_Y179C,Missense_Y176C,Missense_Y151C,Missense_Y165C variant.3086 1 45798627 [T/C] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Nonsense_W128X,Nonsense_W129X,Nonsense_W156X,Nonsense_W153X,Nonsense_W128X,Nonsense_W142X exm1815490 1 45800146 [T/C] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_G11D,Missense_G11D,Missense_G25D,Missense_G25D,Missense_G11D,Missense_G25D exm55053 1 45800156 [T/C] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_V8M,Missense_V8M,Missense_V22M,Missense_V22M,Missense_V8M,Missense_V22M exm1815492 1 45800167 [A/G] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH EXON Missense_P4L,Missense_P4L,Missense_P18L,Missense_P18L,Missense_P4L,Missense_P18L rs3219472 1 45804050 [T/C] NM_001048174,NM_001048172,NM_001128425,NM_012222,NM_001048173,NM_001048171 MUTYH,MUTYH,MUTYH,MUTYH,MUTYH,MUTYH Silent,Silent,Silent,Silent,Silent,Silent 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 var_1_45807784 1 45807784 [A/G] NM_025077 TOE1 Silent indel.3100 1 45808276 [I/D] NM_025077 TOE1 EXON 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 indel.3101 1 45809109 [I/D] NM_025077 TOE1 EXON 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 variant.3105 1 45812365 [A/G] NM_007170 TESK2 EXON Synonymous_N293N 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 rs9429076 1 45819489 [T/C] NM_007170 TESK2 Silent rs7519633 1 45821478 [A/G] NM_007170 TESK2 Silent exm55203 1 45851627 [A/G] NM_007170 TESK2 EXON Missense_M117T rs781226 1 45872662 [T/C] NM_007170 TESK2 Silent rs11808204 1 45880074 [A/G] NM_007170 TESK2 Silent exm2275323 1 45887509 [A/G] NM_007170 TESK2 EXON Nonsense_R78X rs12139364 1 45890155 [T/C] NM_007170 TESK2 Silent rs10493120 1 45903488 [T/C] NM_007170 TESK2 Silent rs1006216 1 45909994 [A/G] NM_007170 TESK2 Silent indel.3107 1 45923307 [I/D] NM_007170 TESK2 EXON 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 rs4660863 1 45955868 [T/C] NM_007170 TESK2 Silent indel.3111 1 45962969 [D/I] NR_033296,NR_033297,NR_033298 CCDC163P,CCDC163P,CCDC163P newrs72898310 1 45962983 [A/G] NR_033296,NR_033297,NR_033298 CCDC163P,CCDC163P,CCDC163P EXON Silent,Silent,Silent indel.3113 1 45965247 [I/D] NR_033296,NR_033297,NR_033298 CCDC163P,CCDC163P,CCDC163P EXON exm55246 1 45966012 [G/C] NM_015506 MMACHC EXON Missense_P3R exm55252 1 45966071 [T/G] NM_015506 MMACHC EXON Missense_V23F variant.3115 1 45966084 [A/G] NM_015506 MMACHC EXON Missense_Q27R 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 rs882803 1 45976147 [A/G] NM_015506 MMACHC EXON Silent var_1_45977087 1 45977087 [A/C] NM_002574,NM_181696,NM_181697,NM_001202431 PRDX1,PRDX1,PRDX1,PRDX1 Silent,Silent,Silent,Silent exm55325 1 45981416 [A/G] NM_002574,NM_181696,NM_181697,NM_001202431 PRDX1,PRDX1,PRDX1,PRDX1 EXON Missense_I57T,Missense_I57T,Missense_I57T,Missense_I57T rs6699702 1 45981834 [T/C] NM_002574,NM_181696,NM_181697,NM_001202431 PRDX1,PRDX1,PRDX1,PRDX1 Silent,Silent,Silent,Silent indel.3133 1 45984619 [I/D] NM_002574,NM_181696,NM_181697,NM_001202431 PRDX1,PRDX1,PRDX1,PRDX1 EXON newrs142967305 1 45984662 [T/G] NM_002574,NM_181696,NM_181697,NM_001202431 PRDX1,PRDX1,PRDX1,PRDX1 EXON Synonymous_T18T,Synonymous_T18T,Synonymous_T18T,Synonymous_T18T rs512026 1 46009946 [T/G] rs666720 1 46020795 [T/C] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 Silent,Silent,Silent,Silent exm55337 1 46027477 [T/C] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_S4F,Missense_S4F,Missense_S4F,Missense_S4F variant.3135 1 46032240 [A/G] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 Silent,Silent,Silent,Silent var_1_46032295 1 46032296 [D/I] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON exm55343 1 46032307 [A/G] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_G51S,Missense_G51S,Missense_G51S,Missense_G51S exm55344 1 46032311 [A/G] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_N52S,Missense_N52S,Missense_N52S,Missense_N52S newrs150476930 1 46032360 [A/G] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Synonymous_K68K,Synonymous_K68K,Synonymous_K68K,Synonymous_K68K newrs181804004 1 46032365 [A/G] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 Silent,Silent,Silent,Silent exm55365 1 46033748 [A/G] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_V151M,Missense_V151M,Missense_V151M,Missense_V151M exm55370 1 46034263 [T/G] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_W220L,Missense_W220L,Missense_W220L,Missense_W220L exm2233477 1 46034272 [G/C] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_P223R,Missense_P223R,Missense_P223R,Missense_P223R exm55371 1 46034301 [A/G] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_V233I,Missense_V233I,Missense_V233I,Missense_V233I exm55372 1 46034329 [A/G] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_G242D,Missense_G242D,Missense_G242D,Missense_G242D variant.3144 1 46034651 [T/C] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Nonsense_R269X,Nonsense_R269X,Nonsense_R269X,Nonsense_R269X exm55377 1 46034652 [A/G] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_R269Q,Missense_R269Q,Missense_R269Q,Missense_R269Q variant.3145 1 46034842 [T/G] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Nonsense_E285X,Nonsense_E285X,Nonsense_E285X,Nonsense_E285X exm55380 1 46034879 [T/G] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_R297I,Missense_R297I,Missense_R297I,Missense_R297I exm1816003 1 46034894 [T/G] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_M302R,Missense_M302R,Missense_M302R,Missense_M302R exm55385 1 46035599 [T/C] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_P317S,Missense_P317S,Missense_P317S,Missense_P317S exm55390 1 46035621 [T/C] NM_006066,NM_001202413,NM_153326,NM_001202414 AKR1A1,AKR1A1,AKR1A1,AKR1A1 EXON Missense_P324L,Missense_P324L,Missense_P324L,Missense_P324L rs518216 1 46037357 [T/C] rs2934857 1 46039612 [A/G] exm55392 1 46049849 [G/C] NM_152298,NM_001195193,NM_002482 NASP,NASP,NASP EXON Missense_V11L,Missense_V11L,Missense_V11L variant.3146 1 46056893 [A/G] NM_152298,NM_001195193,NM_002482 NASP,NASP,NASP Silent,Silent,Silent exm55396 1 46056939 [A/G] NM_152298,NM_001195193,NM_002482 NASP,NASP,NASP EXON Missense_E35G,Missense_E35G,Missense_E35G indel.3147 1 46067948 [D/I] NM_152298,NM_001195193,NM_002482 NASP,NASP,NASP EXON exm55429 1 46073361 [T/C] NM_152298,NM_001195193,NM_002482 NASP,NASP,NASP EXON Silent,Nonsense_Q196X,Nonsense_Q260X exm55430 1 46073362 [A/G] NM_152298,NM_001195193,NM_002482 NASP,NASP,NASP EXON Silent,Missense_Q196R,Missense_Q260R exm55436 1 46073451 [A/G] NM_152298,NM_001195193,NM_002482 NASP,NASP,NASP EXON Silent,Missense_G226S,Missense_G290S exm1816065 1 46073517 [A/G] NM_152298,NM_001195193,NM_002482 NASP,NASP,NASP EXON Silent,Missense_D248N,Missense_D312N variant.3149 1 46073577 [T/C] NM_152298,NM_001195193,NM_002482 NASP,NASP,NASP EXON Silent,Nonsense_Q268X,Nonsense_Q332X exm55462 1 46079969 [A/G] NM_152298,NM_001195193,NM_002482 NASP,NASP,NASP EXON Missense_E194K,Missense_E469K,Missense_E533K exm55468 1 46080844 [A/G] NM_152298,NM_001195193,NM_002482 NASP,NASP,NASP EXON Missense_K270R,Missense_K545R,Missense_K609R exm55469 1 46080849 [A/G] NM_152298,NM_001195193,NM_002482 NASP,NASP,NASP EXON Missense_I272V,Missense_I547V,Missense_I611V exm55473 1 46080988 [A/G] NM_152298,NM_001195193,NM_002482 NASP,NASP,NASP EXON Missense_E284K,Missense_E559K,Missense_E623K exm55481 1 46082061 [C/G] NM_152298,NM_001195193,NM_002482 NASP,NASP,NASP EXON Missense_S353C,Missense_S628C,Missense_S692C exm55486 1 46082322 [A/G] NM_152298,NM_001195193,NM_002482 NASP,NASP,NASP EXON Missense_G363S,Missense_G638S,Missense_G702S exm55493 1 46083166 [A/G] NM_152298,NM_001195193,NM_002482 NASP,NASP,NASP EXON Missense_D391G,Missense_D666G,Missense_D730G exm55498 1 46083226 [T/C] NM_152298,NM_001195193,NM_002482 NASP,NASP,NASP EXON Missense_P411L,Missense_P686L,Missense_P750L indel.3152 1 46085956 [I/D] NM_001190182,NM_001114938 CCDC17,CCDC17 EXON rs11590549 1 46086329 [T/C] NM_001190182,NM_001114938 CCDC17,CCDC17 Silent,Silent exm55517 1 46086436 [T/C] NM_001190182,NM_001114938 CCDC17,CCDC17 EXON Missense_I548V,Missense_I557V indel.3153 1 46086466 [I/D] NM_001190182,NM_001114938 CCDC17,CCDC17 EXON exm55518 1 46086469 [A/C] NM_001190182,NM_001114938 CCDC17,CCDC17 EXON Missense_A537S,Missense_A546S exm55527 1 46086649 [A/G] NM_001190182,NM_001114938 CCDC17,CCDC17 EXON Missense_R500C,Missense_R509C newrs143908062 1 46086738 [T/C] NM_001190182,NM_001114938 CCDC17,CCDC17 EXON Nonsense_W470X,Nonsense_W479X exm55532 1 46086766 [T/C] NM_001190182,NM_001114938 CCDC17,CCDC17 EXON Missense_V461I,Missense_V470I exm55536 1 46087002 [A/C] NM_001190182,NM_001114938 CCDC17,CCDC17 EXON Missense_G438W,Missense_G447W indel.3158 1 46087134 [D/I] NM_001190182,NM_001114938 CCDC17,CCDC17 EXON exm55539 1 46087313 [C/G] NM_001190182,NM_001114938 CCDC17,CCDC17 EXON Missense_P385R,Missense_P394R exm55551 1 46088002 [A/G] NM_001190182,NM_001114938 CCDC17,CCDC17 EXON Missense_S284L,Missense_S293L exm55565 1 46088475 [C/G] NM_001190182,NM_001114938 CCDC17,CCDC17 EXON Missense_L221V,Missense_L230V exm55567 1 46088663 [A/C] NM_001190182,NM_001114938 CCDC17,CCDC17 EXON Missense_L198W,Missense_L207W exm55573 1 46089315 [A/G] NM_001190182,NM_001114938 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 newrs141022457 1 46099160 [T/C] NM_021639 GPBP1L1 Silent 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 rs4431884 1 46101323 [T/C] NM_021639 GPBP1L1 Silent 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 indel.3165 1 46120884 [I/D] NM_021639 GPBP1L1 EXON exm55642 1 46120885 [T/C] NM_021639 GPBP1L1 EXON Missense_N56S exm55643 1 46120890 [T/A] NM_021639 GPBP1L1 EXON Missense_F54L rs3811436 1 46125880 [T/C] NM_021639 GPBP1L1 EXON Silent rs3013595 1 46153203 [A/G] exm55656 1 46156748 [A/G] NM_016486 TMEM69 EXON Missense_R3H variant.3167 1 46156782 [A/G] NM_016486 TMEM69 EXON Synonymous_K14K indel.3168 1 46158965 [I/D] NM_016486 TMEM69 EXON variant.3169 1 46158979 [A/G] NM_016486 TMEM69 EXON Nonsense_W49X exm55664 1 46158981 [T/C] NM_016486 TMEM69 EXON Missense_L50F indel.3170 1 46159032 [I/D] NM_016486 TMEM69 EXON exm55672 1 46159158 [A/G] NM_016486 TMEM69 EXON Missense_V109I exm55676 1 46159201 [T/C] NM_016486 TMEM69 EXON Missense_P123L 1KG_1_46159242 1 46159242 [I/D] NM_016486 TMEM69 EXON exm55685 1 46159395 [A/G] NM_016486 TMEM69 EXON Missense_T188A exm55687 1 46160124 [T/C] NM_001145349 IPP EXON Missense_H572R indel.3172 1 46160137 [I/D] NM_001145349 IPP EXON exm55688 1 46160173 [T/C] NM_001145349 IPP EXON Missense_E556K variant.3173 1 46165737 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Silent,Synonymous_T552T 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 indel.3175 1 46195352 [I/D] NM_001145349,NM_005897 IPP,IPP EXON 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 variant.3177 1 46206702 [A/G] NM_001145349,NM_005897 IPP,IPP EXON Nonsense_Q199X,Nonsense_Q199X 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 kgp3664518 1 46228391 [A/G] rs4660314 1 46229885 [T/C] exm2268680 1 46287869 [T/C] NM_015112 MAST2 Silent variant.3180 1 46290189 [T/C] NM_015112 MAST2 EXON Nonsense_Q88X var_1_46290257 1 46290257 [A/G] NM_015112 MAST2 Silent exm55782 1 46295147 [C/G] NM_015112 MAST2 EXON Missense_S121T indel.3182 1 46348034 [I/D] NM_015112 MAST2 variant.3183 1 46383207 [T/C] NM_015112 MAST2 Silent rs11211230 1 46406767 [T/G] NM_015112 MAST2 Silent rs11211232 1 46411146 [A/G] NM_015112 MAST2 Silent exm55791 1 46425062 [T/C] NM_015112 MAST2 EXON Missense_R169W rs4420029 1 46425500 [A/G] NM_015112 MAST2 Silent rs4660905 1 46461587 [A/G] NM_015112 MAST2 Silent variant.3184 1 46468560 [A/G] NM_015112 MAST2 Silent 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 variant.3188 1 46495630 [T/G] NM_015112 MAST2 Silent 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 rs1622208 1 46498375 [A/G] NM_015112 MAST2 EXON Synonymous_V1174V 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 indel.3204 1 46509377 [I/D] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON 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 var_1_46521492 1 46521492 [A/G] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON Nonsense_R306X,Nonsense_R306X exm56061 1 46521559 [T/A] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON Missense_N283K,Missense_N283K newrs191478062 1 46527601 [T/C] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON Missense_R255Q,Missense_R255Q exm56068 1 46527602 [A/G] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON Nonsense_R255X,Nonsense_R255X indel.3212 1 46543211 [I/D] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON rs1085243 1 46544768 [T/C] NM_001114172,NM_003629 PIK3R3,PIK3R3 Silent,Silent 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 rs1768802 1 46547868 [A/G] NM_001114172,NM_003629 PIK3R3,PIK3R3 Silent,Silent rs12143865 1 46548162 [T/C] NM_001114172,NM_003629 PIK3R3,PIK3R3 Silent,Silent rs1707303 1 46598273 [A/C] NM_001114172,NM_003629 PIK3R3,PIK3R3 EXON Silent,Silent rs7512966 1 46621740 [A/G] rs3855959 1 46633874 [T/C] 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_001243766,NM_017739 POMGNT1,POMGNT1 EXON Silent,Missense_S632L exm56140 1 46655158 [T/C] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Missense_M623V,Missense_M623V exm56149 1 46655585 [T/C] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Missense_V576M,Missense_V576M exm56153 1 46655645 [T/C] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Missense_D556N,Missense_D556N exm56170 1 46657769 [T/C] NM_001243766,NM_017739 POMGNT1,POMGNT1 Silent,Silent variant.3218 1 46657770 [A/G] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Synonymous_H513H,Synonymous_H513H exm56174 1 46657799 [T/C] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Missense_V504I,Missense_V504I variant.3220 1 46657890 [T/C] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Nonsense_W473X,Nonsense_W473X exm56184 1 46658095 [A/G] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Missense_T433M,Missense_T433M rs2292485 1 46658343 [A/G] NM_001243766,NM_017739 POMGNT1,POMGNT1 Silent,Silent indel.3225 1 46659250 [I/D] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON exm2251888 1 46659302 [C/G] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Synonymous_R320R,Synonymous_R320R exm56217 1 46659986 [T/C] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Missense_S280N,Missense_S280N exm56222 1 46660037 [T/C] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Missense_R263H,Missense_R263H exm1817598 1 46661684 [T/C] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Synonymous_T140T,Synonymous_T140T exm56246 1 46661749 [T/C] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Missense_V119M,Missense_V119M exm56251 1 46662456 [T/C] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Missense_V101I,Missense_V101I exm56256 1 46662488 [T/C] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Missense_R90H,Missense_R90H exm56258 1 46662491 [T/C] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Missense_R89Q,Missense_R89Q exm56263 1 46662669 [T/C] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Missense_E70K,Missense_E70K variant.3231 1 46662690 [A/G] NM_001243766,NM_017739 POMGNT1,POMGNT1 EXON Nonsense_R63X,Nonsense_R63X exm56272 1 46663487 [A/C] NM_001243766,NM_017739 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 rs12141928 1 46677918 [A/G] NM_001243766,NM_001013615 POMGNT1,LURAP1 Silent,Silent 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 exm56311 1 46714242 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_D21G,Missense_D21G rs11211262 1 46721155 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent exm56317 1 46724370 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R75X,Nonsense_R75X newrs34761954 1 46725650 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R96X,Nonsense_R96X exm56334 1 46726436 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R172H,Missense_R172H exm56337 1 46726525 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R202C,Missense_R202C exm56349 1 46726931 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent exm56351 1 46726951 [T/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R262L,Missense_R262L exm56352 1 46726962 [G/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_V266L,Missense_V266L rs4660918 1 46731694 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent rs12125573 1 46734792 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L Silent,Silent exm56363 1 46736339 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_H351Y,Missense_H351Y variant.3239 1 46736381 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R365X,Nonsense_R365X exm56372 1 46738397 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_P433L,Missense_P433L exm56377 1 46739296 [G/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_G496A,Missense_G496A variant.3241 1 46739334 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R509X,Nonsense_R509X exm56380 1 46739409 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R534C,Missense_R534C exm56381 1 46739410 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R534H,Missense_R534H variant.3242 1 46739415 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R536X,Nonsense_R536X exm56382 1 46739416 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R536Q,Missense_R536Q exm56395 1 46740279 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R587W,Missense_R587W newrs138693255 1 46740345 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Nonsense_R609X,Nonsense_R609X exm56407 1 46743589 [C/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_S657C,Missense_S657C exm56411 1 46743781 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R691W,Missense_R691W exm56412 1 46743782 [A/G] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_R691Q,Missense_R691Q exm56414 1 46743839 [G/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Missense_T710S,Missense_T710S rs1048771 1 46743900 [T/C] NM_003579,NM_001142548 RAD54L,RAD54L EXON Synonymous_A730A,Synonymous_A730A exm56417 1 46743923 [A/G] NM_003579,NM_001142548 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 rs12142240 1 46747301 [T/C] NM_006369 LRRC41 Silent 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_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Missense_T51A,Missense_T2A,Missense_T2A indel.3250 1 46810533 [I/D] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON indel.3251 1 46810586 [I/D] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON exm56553 1 46810763 [A/C] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Missense_N128K,Missense_N79K,Missense_N79K exm56556 1 46810797 [A/G] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Missense_S140G,Missense_S91G,Missense_S91G exm56557 1 46810815 [A/G] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Missense_R146G,Missense_R97G,Missense_R97G exm56565 1 46812747 [T/C] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Missense_R198C,Missense_R149C,Missense_R149C variant.3255 1 46818572 [T/C] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Nonsense_R209X,Nonsense_R160X,Nonsense_R160X exm56576 1 46818641 [T/C] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Nonsense_R232X,Nonsense_R183X,Nonsense_R183X exm56578 1 46826407 [A/G] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Missense_R262H,Missense_R213H,Missense_R213H exm56581 1 46826463 [T/C] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Nonsense_R281X,Nonsense_R232X,Nonsense_R232X indel.3258 1 46826474 [D/I] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON variant.3259 1 46826500 [T/C] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Missense_A293V,Missense_A244V,Missense_A244V exm56583 1 46826501 [A/G] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 Silent,Silent,Silent,Silent,Silent,Silent exm2233497 1 46827249 [T/C] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Missense_L296F,Missense_L247F,Missense_L247F exm56587 1 46827274 [A/G] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Missense_H304R,Missense_H255R,Missense_H255R variant.3261 1 46827309 [T/C] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Nonsense_Q316X,Nonsense_Q267X,Nonsense_Q267X exm56589 1 46827337 [T/C] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Missense_I325T,Missense_I276T,Missense_I276T newrs189515964 1 46827396 [T/C] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Nonsense_R345X,Nonsense_R296X,Nonsense_R296X exm56596 1 46827456 [A/G] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Missense_I365V,Missense_I316V,Missense_I316V indel.3263 1 46827476 [I/D] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON rs1053624 1 46827485 [T/C] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Synonymous_P374P,Synonymous_P325P,Synonymous_P325P rs10252 1 46830430 [A/G] NR_045789,NR_045790,NR_045791,NM_199044,NM_001256128,NM_001256127 NSUN4,NSUN4,NSUN4,NSUN4,NSUN4,NSUN4 EXON Silent,Silent,Silent,Silent,Silent,Silent rs3766246 1 46865671 [A/G] NM_001441 FAAH Silent exm56616 1 46870705 [A/G] NM_001441 FAAH EXON Missense_G110E rs324420 1 46870761 [A/C] NM_001441 FAAH EXON Missense_P129T 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 rs11576941 1 46875067 [T/G] NM_001441 FAAH Silent exm56672 1 46877284 [T/G] NM_001441 FAAH EXON Synonymous_R439R rs4660928 1 46885940 [A/C] rs11211276 1 46905802 [T/G] NR_045483 LOC729041 Silent rs2031248 1 46923102 [T/C] rs10890398 1 46925594 [T/C] rs11211282 1 46928349 [A/G] rs2031247 1 46938837 [T/C] exm2268681 1 46944805 [T/C] rs1998545 1 46954587 [T/C] rs11211294 1 46964305 [A/G] rs2025384 1 46967890 [A/G] rs6683116 1 46975773 [T/C] NM_147192,NM_172225 DMBX1,DMBX1 Silent,Silent 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 rs2209172 1 46978497 [T/C] NM_147192,NM_172225 DMBX1,DMBX1 EXON Silent,Silent rs6429601 1 46981536 [A/C] rs7519040 1 46986641 [A/G] rs1267308 1 46987718 [A/G] rs7525300 1 46988375 [A/C] rs7542296 1 46998009 [T/C] rs3737741 1 47000566 [T/C] rs2486164 1 47006657 [T/C] NR_038403 MKNK1-AS1 EXON Silent rs1258033 1 47010027 [A/G] NR_038403 MKNK1-AS1 Silent rs885125 1 47011762 [A/G] NR_038403,NM_001097611 MKNK1-AS1,KNCN EXON Silent,Silent rs885127 1 47012144 [A/G] NR_038403,NM_001097611 MKNK1-AS1,KNCN EXON Silent,Silent 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,NR_024174,NM_003684,NM_198973,NR_024176,NM_001135553 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Missense_R446Q,Silent,Silent,Missense_R405Q exm56826 1 47024442 [A/G] NR_038403,NR_024174,NM_003684,NM_198973,NR_024176,NM_001135553 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Synonymous_F401F,Missense_R346C,Silent,Synonymous_F360F exm56828 1 47024454 [A/G] NR_038403,NR_024174,NM_003684,NM_198973,NR_024176,NM_001135553 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Synonymous_D397D,Missense_P342S,Silent,Synonymous_D356D variant.3275 1 47030708 [T/C] NR_038403,NR_024174,NM_003684,NM_198973,NR_024176,NM_001135553 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent exm56843 1 47030774 [T/C] NR_038403,NR_024174,NM_003684,NM_198973,NR_024176,NM_001135553 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Missense_G236D,Missense_G195D,Silent,Missense_G195D rs7543083 1 47031340 [A/G] NR_038403,NR_024174,NM_003684,NM_198973,NR_024176,NM_001135553 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent exm2265005 1 47031340 [A/G] NR_038403,NR_024174,NM_003684,NM_198973,NR_024176,NM_001135553 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent,Silent exm56844 1 47034125 [A/G] NR_038403,NR_024174,NM_003684,NM_198973,NR_024176,NM_001135553 MKNK1-AS1,MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Silent,Missense_S221F,Missense_S180F,Silent,Missense_S180F exm56865 1 47042283 [T/C] NR_024174,NM_003684,NM_198973,NR_024176,NM_001135553 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Missense_R93Q,Missense_R93Q,Silent,Missense_R93Q exm1818502 1 47046255 [T/C] NR_024174,NM_003684,NM_198973,NR_024176,NM_001135553 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Missense_A61T,Missense_A61T,Silent,Missense_A61T exm56869 1 47046266 [T/G] NR_024174,NM_003684,NM_198973,NR_024176,NM_001135553 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Missense_E57A,Missense_E57A,Silent,Missense_E57A var_1_47046300 1 47046300 [T/C] NR_024174,NM_003684,NM_198973,NR_024176,NM_001135553 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent exm56874 1 47048933 [A/G] NR_024174,NM_003684,NM_198973,NR_024176,NM_001135553 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON Silent,Missense_R35W,Missense_R35W,Silent,Missense_R35W 1KG_1_47048942 1 47048942 [I/D] NR_024174,NM_003684,NM_198973,NR_024176,NM_001135553 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON indel.3278 1 47051602 [I/D] NR_024174,NM_003684,NM_198973,NR_024176,NM_001135553 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 EXON rs3766231 1 47056347 [T/C] NR_024174,NM_003684,NM_198973,NR_024176,NM_001135553 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,Silent rs12022855 1 47068584 [T/C] NR_024174,NM_003684,NM_198973,NR_024176,NM_001135553 MKNK1,MKNK1,MKNK1,MKNK1,MKNK1 Silent,Silent,Silent,Silent,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 variant.3281 1 47075817 [A/G] NM_145279,NM_201403 MOB3C,MOB3C EXON Nonsense_R212X,Nonsense_R160X 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 rs6671527 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 rs6669160 1 47087968 [A/G] rs6696389 1 47098108 [A/G] rs723333 1 47099346 [A/C] exm56932 1 47101519 [T/C] NM_001243728,NM_022745,NM_001256418,NM_001042546 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Missense_V218I,Missense_V329I,Missense_V155I,Missense_V261I newrs149829714 1 47101568 [A/C] NM_001243728,NM_022745,NM_001256418,NM_001042546 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Synonymous_G201G,Synonymous_G312G,Synonymous_G138G,Synonymous_G244G rs1258061 1 47105000 [A/G] NM_001243728,NM_022745,NM_001256418,NM_001042546 ATPAF1,ATPAF1,ATPAF1,ATPAF1 Silent,Silent,Silent,Silent variant.3286 1 47108970 [A/G] NM_001243728,NM_022745,NM_001256418,NM_001042546 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Nonsense_R142X,Nonsense_R253X,Nonsense_R79X,Silent rs1745377 1 47109089 [A/G] NM_001243728,NM_022745,NM_001256418,NM_001042546 ATPAF1,ATPAF1,ATPAF1,ATPAF1 Silent,Silent,Silent,Silent newrs140170988 1 47110833 [T/C] NM_001243728,NM_022745,NM_001256418,NM_001042546 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Synonymous_Q140Q,Synonymous_Q251Q,Synonymous_Q77Q,Silent exm56947 1 47110834 [T/A] NM_001243728,NM_022745,NM_001256418,NM_001042546 ATPAF1,ATPAF1,ATPAF1,ATPAF1 EXON Missense_Q140L,Missense_Q251L,Missense_Q77L,Silent rs631368 1 47121502 [T/C] NM_001243728,NM_022745,NM_001256418,NM_001042546 ATPAF1,ATPAF1,ATPAF1,ATPAF1 Silent,Silent,Silent,Silent exm2273650 1 47138637 [T/C] NM_001145474 TEX38 EXON Missense_R44W exm56982 1 47138720 [T/G] NM_001145474 TEX38 EXON Missense_K71N rs614486 1 47138819 [T/G] NM_001145474 TEX38 EXON Missense_D104E 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 rs1025806 1 47139103 [T/C] NM_001145474 TEX38 EXON Missense_A199V exm56994 1 47139117 [A/T] NM_001145474 TEX38 EXON Missense_S204T rs669647 1 47142475 [A/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Silent rs1048380 1 47142538 [A/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Silent exm57004 1 47149007 [G/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_R426T newrs149160356 1 47149049 [T/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Nonsense_S412X 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 variant.3291 1 47150276 [T/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 Silent,Silent,Silent newrs78161481 1 47152440 [A/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 Silent,Silent,Silent 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 variant.3293 1 47157497 [A/C] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 Silent,Silent,Silent exm57035 1 47157570 [T/G] NR_038828,NR_038827,NM_014774 EFCAB14-AS1,EFCAB14-AS1,EFCAB14 EXON Silent,Silent,Missense_L207I rs2083486 1 47169210 [T/C] NM_014774 EFCAB14 Silent exm2233504 1 47173604 [T/C] NM_014774 EFCAB14 EXON Missense_I152V rs10789491 1 47179310 [A/G] NM_014774 EFCAB14 Silent exm57044 1 47182101 [T/C] NM_014774 EFCAB14 EXON Missense_R67Q variant.3295 1 47182102 [A/G] NM_014774 EFCAB14 EXON Nonsense_R67X variant.3297 1 47183618 [A/C] NM_014774 EFCAB14 EXON Nonsense_E48X rs4660957 1 47188150 [T/G] rs723690 1 47201798 [A/G] rs1971518 1 47208081 [A/G] rs594387 1 47213386 [A/G] rs686053 1 47214785 [A/G] rs720413 1 47219823 [T/C] rs986034 1 47226827 [T/G] rs863915 1 47259138 [T/C] rs2297813 1 47264724 [T/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Silent,Silent 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 rs837398 1 47266422 [A/T] NM_000779,NM_001099772 CYP4B1,CYP4B1 Silent,Silent rs681840 1 47268041 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 Silent,Silent rs1105456 1 47269984 [T/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 Silent,Silent rs1890250 1 47272785 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 Silent,Silent 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 rs2297812 1 47276728 [G/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 Silent,Silent kgp15329500 1 47276819 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Synonymous_K110K,Synonymous_K110K kgp24935388 1 47276854 [T/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_I122T,Missense_I122T 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 rs4646487 1 47279175 [T/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R173W,Missense_R173W 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 kgp15405951 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 SNP137 1 47280748 [T/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_D294E,Missense_D295E 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 newrs142539703 1 47280793 [A/G] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Synonymous_V309V,Synonymous_V310V 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 rs2297810 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 kgp1241099 1 47282772 [T/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Missense_R375C,Missense_R376C 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 kgp6364747 1 47284526 [A/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Silent,Silent kgp8583761 1 47284923 [T/C] NM_000779,NM_001099772 CYP4B1,CYP4B1 EXON Silent,Silent rs10749865 1 47309265 [A/G] NR_002788 CYP4Z2P Silent exm2264832 1 47309265 [A/G] NR_002788 CYP4Z2P Silent rs6679068 1 47326226 [T/C] NR_002788 CYP4Z2P Silent rs12075287 1 47373886 [A/G] rs6687264 1 47374039 [T/C] rs11211402 1 47392054 [T/C] rs9333035 1 47395973 [A/G] NM_000778 CYP4A11 EXON Synonymous_I458I rs9333016 1 47399034 [T/C] NM_000778 CYP4A11 Silent exm57193 1 47399617 [A/C] NM_000778 CYP4A11 Silent kgp15545556 1 47399928 [A/G] NM_000778 CYP4A11 EXON Synonymous_A336A indel.3307 1 47400134 [D/I] NM_000778 CYP4A11 EXON indel.3308 1 47400149 [I/D] NM_000778 CYP4A11 EXON var_1_47400671 1 47400671 [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 rs9333005 1 47402384 [A/G] NM_000778 CYP4A11 EXON Synonymous_I154I rs9333003 1 47402832 [T/C] NM_000778 CYP4A11 Silent exm57266 1 47403746 [G/C] NM_000778 CYP4A11 EXON Missense_P87A exm57267 1 47403784 [T/C] NM_000778 CYP4A11 EXON Missense_R74Q rs9332998 1 47404186 [T/C] NM_000778 CYP4A11 Silent rs11211406 1 47413786 [A/C] rs10789496 1 47416441 [T/C] rs6692958 1 47441156 [T/C] rs10890438 1 47467796 [T/C] rs2036462 1 47489786 [T/C] NM_178033 CYP4X1 Silent exm57293 1 47495702 [T/C] NM_178033 CYP4X1 EXON Missense_I73T variant.3312 1 47495704 [T/G] NM_178033 CYP4X1 EXON Nonsense_E74X rs9793989 1 47496738 [A/G] NM_178033 CYP4X1 Silent var_1_47497152 1 47497152 [A/G] NM_178033 CYP4X1 EXON Missense_G122R 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 rs11211422 1 47502483 [A/G] NM_178033 CYP4X1 Silent exm57330 1 47505158 [T/C] NM_178033 CYP4X1 EXON Missense_R343W exm57337 1 47514254 [A/G] NM_178033 CYP4X1 EXON Missense_S409G indel.3316 1 47514284 [D/I] NM_178033 CYP4X1 EXON variant.3318 1 47515177 [A/G] NM_178033 CYP4X1 Silent 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 indel.3320 1 47534370 [I/D] NM_178134 CYP4Z1 EXON rs11211436 1 47551273 [A/G] NM_178134 CYP4Z1 Silent 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 rs6690005 1 47571391 [A/G] NM_178134 CYP4Z1 Silent indel.3324 1 47582365 [I/D] NM_178134 CYP4Z1 EXON kgp15820763 1 47583623 [A/G] NM_178134 CYP4Z1 EXON Silent rs34734216 1 47583723 [A/G] NM_178134 CYP4Z1 EXON Silent rs7554948 1 47584789 [T/G] rs12040022 1 47587253 [A/G] rs12564103 1 47594935 [A/C] 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 rs2056898 1 47608197 [A/G] NM_001010969 CYP4A22 Silent exm57446 1 47609489 [T/C] NM_001010969 CYP4A22 EXON Missense_C231R rs10789501 1 47609489 [T/C] NM_001010969 CYP4A22 EXON Missense_C231R exm57448 1 47609516 [A/G] NM_001010969 CYP4A22 EXON Missense_D240N newrs112811686 1 47609589 [T/G] NM_001010969 CYP4A22 Silent exm1820433 1 47610137 [T/C] NM_001010969 CYP4A22 Silent rs1832992 1 47620126 [A/G] rs3737772 1 47627246 [T/C] rs12034515 1 47637999 [T/G] rs2798353 1 47641041 [A/G] 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 rs12184246 1 47657141 [A/C] rs4926718 1 47661564 [A/G] rs7531972 1 47661620 [A/C] rs741959 1 47676233 [A/G] rs2249636 1 47686533 [A/C] NM_003189 TAL1 Silent exm1820647 1 47689696 [T/C] NM_003189 TAL1 EXON Missense_Y174C exm57556 1 47689770 [A/G] NM_003189 TAL1 EXON Synonymous_S149S rs12083555 1 47703400 [T/G] exm57573 1 47716980 [T/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_R1231Q,Missense_R1232Q indel.3335 1 47717021 [I/D] NM_003035,NM_001048166 STIL,STIL EXON 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 rs6588095 1 47724166 [T/C] NM_003035,NM_001048166 STIL,STIL Silent,Silent 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 rs13376679 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 newrs141874074 1 47746036 [A/C] NM_003035,NM_001048166 STIL,STIL EXON Missense_Q698H,Missense_Q698H 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 variant.3338 1 47748012 [A/G] NM_003035,NM_001048166 STIL,STIL Silent,Silent 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 rs6697248 1 47766943 [T/C] NM_003035,NM_001048166 STIL,STIL Silent,Silent 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 1KG_1_47770587 1 47770587 [I/D] NM_003035,NM_001048166 STIL,STIL EXON indel.3339 1 47770710 [I/D] NM_003035,NM_001048166 STIL,STIL rs6690084 1 47794706 [T/C] exm2265006 1 47800713 [A/G] NM_016308,NM_001136140,NR_046395,NR_046394 CMPK1,CMPK1,CMPK1,CMPK1 Silent,Silent,Silent,Silent rs12123269 1 47806087 [A/G] NM_016308,NM_001136140,NR_046395,NR_046394 CMPK1,CMPK1,CMPK1,CMPK1 Silent,Silent,Silent,Silent rs10789507 1 47820192 [T/C] NM_016308,NM_001136140,NR_046395,NR_046394 CMPK1,CMPK1,CMPK1,CMPK1 Silent,Silent,Silent,Silent exm57717 1 47834152 [A/C] NM_016308,NM_001136140,NR_046394 CMPK1,CMPK1,CMPK1 EXON Nonsense_Y61X,Silent,Silent exm57725 1 47838627 [A/G] NM_016308,NM_001136140,NR_046394 CMPK1,CMPK1,CMPK1 EXON Missense_E107K,Missense_E58K,Silent exm57726 1 47838652 [A/G] NM_016308,NM_001136140,NR_046394 CMPK1,CMPK1,CMPK1 EXON Missense_N115S,Missense_N66S,Silent rs6795 1 47844464 [A/G] NM_016308,NM_001136140,NR_046394 CMPK1,CMPK1,CMPK1 EXON Silent,Silent,Silent rs17103186 1 47854514 [T/C] rs6679121 1 47867150 [A/G] rs11579058 1 47868005 [T/C] rs7528075 1 47870271 [A/G] rs7525184 1 47891361 [T/C] rs2820974 1 47893929 [T/C] exm57776 1 47904000 [A/G] NM_004474 FOXD2 EXON Missense_A65T rs17103253 1 47916965 [T/C] rs527430 1 47918821 [A/G] rs6695969 1 47927545 [A/G] rs543640 1 47932550 [T/G] rs505399 1 47936696 [T/C] rs10789509 1 47938129 [T/C] rs6588397 1 47943032 [T/C] rs2065945 1 47948764 [A/G] rs2065944 1 47948798 [A/G] exm-rs517384 1 47952663 [T/G] rs515146 1 47955790 [T/C] rs12123884 1 47960631 [T/C] rs10157710 1 47961691 [T/C] rs2065946 1 47968050 [A/C] rs822886 1 47981663 [T/C] rs2506985 1 47986452 [A/G] rs11808094 1 47989572 [A/G] rs12028069 1 48015566 [A/G] rs978246 1 48020922 [T/G] rs7550183 1 48030249 [T/C] rs12131166 1 48033804 [A/G] rs10890490 1 48035813 [T/G] rs11211563 1 48040577 [T/C] exm2264833 1 48048060 [A/G] rs1108866 1 48060089 [T/C] rs10890492 1 48063350 [A/G] rs12058525 1 48066171 [A/G] rs6660568 1 48082491 [A/G] rs4926916 1 48085268 [T/C] rs11211576 1 48091748 [A/G] rs10157025 1 48103092 [T/C] rs1439916 1 48174867 [T/C] rs7530242 1 48189253 [T/C] rs4926601 1 48193205 [T/C] rs12022200 1 48196590 [A/G] rs6588490 1 48224494 [T/C] exm57822 1 48231630 [T/C] NM_001194986 TRABD2B EXON Missense_A500T rs6657202 1 48236963 [A/G] NM_001194986 TRABD2B Silent rs2282361 1 48240005 [T/C] NM_001194986 TRABD2B Silent exm57825 1 48241091 [T/G] NM_001194986 TRABD2B EXON Missense_A367E rs6588505 1 48254782 [T/C] NM_001194986 TRABD2B Silent rs6588506 1 48255008 [A/G] NM_001194986 TRABD2B Silent rs6675571 1 48257485 [A/C] NM_001194986 TRABD2B Silent exm57828 1 48267174 [T/C] NM_001194986 TRABD2B EXON Missense_A262T rs12024706 1 48282376 [T/G] NM_001194986 TRABD2B Silent rs11211611 1 48288016 [A/C] NM_001194986 TRABD2B Silent rs11211613 1 48290860 [A/C] NM_001194986 TRABD2B Silent rs6666271 1 48291425 [T/C] NM_001194986 TRABD2B Silent rs10890507 1 48309587 [T/C] NM_001194986 TRABD2B Silent rs946836 1 48321221 [T/C] NM_001194986 TRABD2B Silent rs7536189 1 48331522 [T/C] NM_001194986 TRABD2B Silent rs4926664 1 48335067 [T/G] NM_001194986 TRABD2B Silent rs12048888 1 48343224 [T/C] NM_001194986 TRABD2B Silent rs11211624 1 48359634 [T/G] NM_001194986 TRABD2B Silent rs2088361 1 48362713 [T/C] NM_001194986 TRABD2B Silent rs1497095 1 48386888 [T/C] NM_001194986 TRABD2B Silent rs11211632 1 48406460 [A/G] NM_001194986 TRABD2B Silent rs1603530 1 48411729 [A/G] NM_001194986 TRABD2B Silent rs11205430 1 48442182 [A/G] NM_001194986 TRABD2B Silent rs6676465 1 48457543 [T/G] NM_001194986 TRABD2B Silent exm57832 1 48459819 [A/C] NM_001194986 TRABD2B EXON Missense_V185L rs12137714 1 48480638 [T/C] rs11800635 1 48493434 [A/G] rs722656 1 48500746 [T/C] rs748142 1 48509053 [T/C] rs6690390 1 48512650 [A/G] rs6679531 1 48524180 [T/C] rs302681 1 48528242 [T/C] rs502819 1 48532672 [T/G] rs638965 1 48546195 [T/C] rs560004 1 48549673 [T/C] rs17468833 1 48564267 [T/C] rs12022876 1 48567686 [A/G] NR_026749 SKINTL Silent rs17468972 1 48568400 [T/C] NR_026749 SKINTL Silent rs2073293 1 48570133 [A/G] NR_026749 SKINTL Silent rs214203 1 48588004 [T/C] NR_026749 SKINTL Silent rs17104182 1 48594201 [T/C] NR_026749 SKINTL EXON Silent rs2134477 1 48609038 [A/C] NR_026749 SKINTL Silent rs12044066 1 48622095 [A/G] NR_026749 SKINTL Silent rs10788882 1 48630438 [C/G] NR_026749 SKINTL EXON Silent exm2268682 1 48672401 [T/C] rs1722710 1 48672401 [T/C] rs10788883 1 48682034 [A/C] rs1524732 1 48686096 [T/C] exm57844 1 48688550 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V48I,Missense_V48I exm57847 1 48690414 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Nonsense_R61X,Nonsense_R61X rs12139099 1 48691564 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 Silent,Silent exm57849 1 48694523 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_I79T,Missense_I79T exm57856 1 48694594 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_G103R,Missense_G103R exm57858 1 48694606 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V107I,Missense_V107I exm57860 1 48694618 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_E111K,Missense_E111K exm57861 1 48694627 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 Silent,Silent exm57865 1 48694997 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V124I,Missense_V149I indel.3349 1 48695060 [I/D] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON rs212989 1 48695081 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V152M,Missense_V177M exm57869 1 48695081 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V152M,Missense_V177M exm57876 1 48696362 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V199I,Missense_V224I exm57878 1 48697226 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_M207T,Missense_M232T exm57881 1 48697256 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_T217M,Missense_T242M var_1_48697274 1 48697274 [I/D] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON exm57882 1 48697277 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_A224V,Missense_A249V exm57887 1 48697656 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_R244W,Missense_R269W exm57891 1 48697713 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_R263W,Missense_R288W exm57896 1 48697733 [T/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_I269M,Missense_I294M exm57900 1 48697766 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Nonsense_W280X,Nonsense_W305X exm57907 1 48698069 [A/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_S310R,Missense_S335R variant.3356 1 48698175 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 Silent,Silent indel.3357 1 48699325 [I/D] NM_001011547,NM_001135181 SLC5A9,SLC5A9 exm57919 1 48699383 [T/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Nonsense_G364X,Nonsense_G389X rs10489600 1 48700325 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 Silent,Silent exm57921 1 48701424 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V389M,Missense_V414M exm57930 1 48703362 [T/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_V435G,Missense_V460G variant.3360 1 48703389 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Nonsense_W444X,Nonsense_W469X exm57936 1 48703478 [G/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_L474V,Missense_L499V exm57939 1 48705067 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_A512V,Missense_A537V exm57941 1 48705078 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_G516R,Missense_G541R exm57946 1 48705159 [A/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_I543V,Missense_I568V exm57955 1 48708202 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Missense_P584L,Missense_P609L exm57957 1 48708228 [T/G] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Nonsense_E593X,Nonsense_E618X exm2273324 1 48713394 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Silent,Silent rs986027 1 48713394 [T/C] NM_001011547,NM_001135181 SLC5A9,SLC5A9 EXON Silent,Silent rs212964 1 48721158 [A/G] rs6684996 1 48758458 [T/C] rs1056042 1 48764419 [T/C] NM_019073 SPATA6 EXON Missense_C478Y exm57977 1 48764419 [T/C] NM_019073 SPATA6 EXON Missense_C478Y variant.3368 1 48764477 [A/G] NM_019073 SPATA6 EXON Nonsense_R459X exm57986 1 48764525 [T/C] NM_019073 SPATA6 EXON Missense_G443S rs6666372 1 48765945 [A/G] NM_019073 SPATA6 Silent newrs150721160 1 48771458 [A/C] NM_019073 SPATA6 Silent rs11205475 1 48802740 [A/C] NM_019073 SPATA6 Silent rs1877720 1 48824407 [T/C] NM_019073 SPATA6 Silent exm57998 1 48825355 [A/G] NM_019073 SPATA6 EXON Missense_R333W exm58002 1 48825442 [A/C] NM_019073 SPATA6 EXON Missense_V304F rs1877719 1 48828015 [A/C] NM_019073 SPATA6 Silent rs12145298 1 48839644 [T/C] NM_019073 SPATA6 Silent rs10158605 1 48859681 [T/C] NM_019073 SPATA6 Silent 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 variant.3374 1 48877138 [A/G] NM_019073 SPATA6 EXON Nonsense_R135X variant.3375 1 48877225 [A/G] NM_019073 SPATA6 EXON Nonsense_R106X exm58039-other 1 48877259 [A/C] NM_019073 SPATA6 EXON Synonymous_V94V rs1416048 1 48882926 [A/G] NM_019073 SPATA6 Silent rs3767621 1 48891957 [T/C] NM_019073 SPATA6 Silent exm58047 1 48918698 [C/G] NM_019073 SPATA6 EXON Missense_L53V rs2787875 1 48946572 [A/C] rs2253233 1 48954476 [T/C] rs2798105 1 48961903 [A/G] rs12045951 1 48965209 [A/G] rs2803252 1 48966113 [T/G] rs1343124 1 48972810 [T/C] rs2354463 1 48986545 [A/G] rs12127061 1 48991061 [T/C] rs2798111 1 48999555 [T/C] NM_032785 AGBL4 EXON Silent exm2268886 1 49002721 [T/G] NM_032785 AGBL4 Silent exm58053 1 49005351 [T/C] NM_032785 AGBL4 EXON Missense_V443M rs2803268 1 49024709 [A/G] NM_032785 AGBL4 Silent rs11205506 1 49025436 [A/G] NM_032785 AGBL4 Silent rs2803270 1 49031238 [T/C] NM_032785 AGBL4 Silent rs2798095 1 49036512 [A/G] NM_032785 AGBL4 Silent rs2798125 1 49040384 [T/C] NM_032785 AGBL4 Silent rs2803273 1 49042349 [T/G] NM_032785 AGBL4 Silent rs7539694 1 49049675 [T/C] NM_032785 AGBL4 Silent rs2627754 1 49052263 [A/C] NM_032785 AGBL4 Silent exm58065 1 49052789 [T/C] NM_032785 AGBL4 EXON Missense_R385H exm58075 1 49056595 [T/C] NM_032785 AGBL4 EXON Missense_M338I rs7543402 1 49056695 [T/C] NM_032785 AGBL4 Silent rs6701767 1 49070646 [T/C] NM_032785 AGBL4 Silent rs320018 1 49075971 [A/G] NM_032785 AGBL4 Silent rs4926745 1 49077356 [T/C] NM_032785 AGBL4 Silent rs320025 1 49080074 [A/G] NM_032785 AGBL4 Silent rs10888608 1 49083071 [T/C] NM_032785 AGBL4 Silent rs320035 1 49089197 [A/G] NM_032785 AGBL4 Silent indel.3377 1 49100192 [I/D] NM_032785 AGBL4 EXON rs319986 1 49102047 [T/C] NM_032785 AGBL4 Silent exm58086 1 49119052 [T/C] NM_032785 AGBL4 EXON Missense_A266T variant.3378 1 49119125 [T/C] NM_032785 AGBL4 Silent rs7556311 1 49123567 [A/G] NM_032785 AGBL4 Silent rs320004 1 49127186 [A/G] NM_032785 AGBL4 Silent 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 rs320041 1 49169795 [A/C] NM_032785 AGBL4 Silent rs320050 1 49174405 [T/C] NM_032785 AGBL4 Silent rs17104710 1 49179498 [A/G] NM_032785 AGBL4 Silent rs10888618 1 49196334 [T/C] NM_032785,NM_024603 AGBL4,BEND5 Silent,Silent exm58112 1 49202095 [A/C] NM_032785,NM_024603 AGBL4,BEND5 EXON Silent,Missense_D308E rs1473455 1 49210570 [T/C] NM_032785,NM_024603 AGBL4,BEND5 Silent,Silent rs1484412 1 49219384 [A/G] NM_032785,NM_024603 AGBL4,BEND5 Silent,Silent rs3820445 1 49224584 [T/G] NM_032785,NM_024603 AGBL4,BEND5 EXON Silent,Synonymous_R245R 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 rs1316396 1 49232075 [A/C] NM_032785,NM_024603 AGBL4,BEND5 Silent,Silent rs1934379 1 49241421 [A/G] NM_032785,NM_024603 AGBL4,BEND5 Silent,Silent rs4926754 1 49242966 [T/C] NM_032785 AGBL4 Silent rs4926757 1 49249604 [A/G] NM_032785 AGBL4 Silent rs11205542 1 49262542 [A/G] NM_032785 AGBL4 Silent exm2268887 1 49279412 [T/C] NM_032785 AGBL4 Silent rs2355686 1 49279412 [T/C] NM_032785 AGBL4 Silent rs12062167 1 49310059 [T/C] NM_032785 AGBL4 Silent rs10788896 1 49317239 [A/G] NM_032785 AGBL4 Silent rs5017079 1 49336456 [T/C] NM_032785 AGBL4 Silent rs3121525 1 49361990 [A/C] NM_032785 AGBL4 Silent rs3127565 1 49365708 [T/C] NM_032785 AGBL4 Silent rs3121532 1 49369206 [A/C] NM_032785 AGBL4 Silent rs3121537 1 49374736 [A/G] NM_032785 AGBL4 Silent rs17105150 1 49378281 [A/C] NM_032785 AGBL4 Silent rs10493140 1 49407295 [A/G] NM_032785 AGBL4 Silent rs12091032 1 49416462 [T/C] NM_032785 AGBL4 Silent exm-rs3127553 1 49438005 [A/G] NM_032785 AGBL4 Silent rs1543562 1 49454215 [T/C] NM_032785 AGBL4 Silent rs3118220 1 49461406 [A/G] NM_032785 AGBL4 Silent exm58145 1 49511311 [T/C] NM_032785 AGBL4 EXON Missense_S180N rs10888647 1 49527451 [T/G] NM_032785 AGBL4 Silent rs6687090 1 49580287 [T/C] NM_032785 AGBL4 Silent rs590503 1 49581006 [T/C] NM_032785 AGBL4 Silent exm2264835 1 49589847 [A/G] NM_032785 AGBL4 Silent rs657452 1 49589847 [A/G] NM_032785 AGBL4 Silent rs1924645 1 49621403 [T/C] NM_032785 AGBL4 Silent rs513360 1 49627502 [T/C] NM_032785 AGBL4 Silent rs11591141 1 49664304 [T/C] NM_032785 AGBL4 Silent kgp2021123 1 49665640 [A/G] NM_032785 AGBL4 Silent rs1431638 1 49762418 [T/C] NM_032785 AGBL4 Silent rs241501 1 49765438 [T/G] NM_032785 AGBL4 Silent rs241467 1 49799987 [T/C] NM_032785 AGBL4 Silent rs7531656 1 49828663 [A/G] NM_032785 AGBL4 Silent rs12120453 1 49840870 [T/C] NM_032785 AGBL4 Silent rs3957 1 49857911 [T/C] NM_032785 AGBL4 Silent rs1577969 1 49865295 [T/G] NM_032785 AGBL4 Silent rs883913 1 49894407 [A/G] NM_032785 AGBL4 Silent rs1177505 1 49900884 [T/C] NM_032785 AGBL4 Silent rs12037603 1 49902421 [T/C] NM_032785 AGBL4 Silent rs1933271 1 49949006 [T/C] NM_032785 AGBL4 Silent rs1185222 1 49958961 [A/G] NM_032785 AGBL4 Silent rs12240044 1 49990335 [T/C] NM_032785 AGBL4 Silent rs2178085 1 50023956 [T/C] NM_032785 AGBL4 Silent rs1999875 1 50049490 [T/C] NM_032785 AGBL4 Silent rs17105712 1 50052684 [T/C] NM_032785 AGBL4 Silent rs10888663 1 50081573 [A/C] NM_032785 AGBL4 Silent kgp12141632 1 50096292 [A/C] NM_032785 AGBL4 Silent kgp6584833 1 50104642 [A/G] NM_032785 AGBL4 Silent rs6660206 1 50189321 [A/G] NM_032785 AGBL4 Silent rs1474910 1 50192150 [T/C] NM_032785 AGBL4 Silent kgp2361558 1 50200968 [T/G] NM_032785 AGBL4 Silent rs3899856 1 50243854 [T/G] NM_032785 AGBL4 Silent rs6695041 1 50245509 [A/G] NM_032785 AGBL4 Silent rs10449745 1 50246030 [A/G] NM_032785 AGBL4 Silent rs10736388 1 50335528 [A/G] NM_032785 AGBL4 Silent rs12091851 1 50353009 [T/C] NM_032785 AGBL4 Silent rs10888672 1 50359987 [A/G] NM_032785 AGBL4 Silent rs12067197 1 50366482 [A/G] NM_032785 AGBL4 Silent rs12403905 1 50372032 [A/G] NM_032785 AGBL4 Silent exm2265007 1 50416930 [A/G] NM_032785 AGBL4 Silent rs7518987 1 50426542 [A/G] NM_032785 AGBL4 Silent rs11576945 1 50456837 [T/C] NM_032785 AGBL4 Silent rs4420126 1 50468739 [T/C] NM_032785 AGBL4 Silent kgp3852044 1 50487846 [A/C] NM_032785 AGBL4 Silent rs4926547 1 50546810 [T/C] NM_001144777 ELAVL4 Silent rs11583200 1 50559820 [T/C] NM_001144777 ELAVL4 Silent rs11205682 1 50567676 [T/C] NM_001144777 ELAVL4 Silent exm1824178 1 50572019 [T/G] NM_001144777,NM_001144776,NM_001144775 ELAVL4,ELAVL4,ELAVL4 EXON Silent,Silent,Missense_L5R rs2480677 1 50577654 [T/G] NM_001144777,NM_001144776,NM_001144775,NM_001144774,NM_021952 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent rs9436444 1 50589798 [A/G] NM_001144777,NM_001144776,NM_001144775,NM_001144774,NM_021952 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent rs4307603 1 50598368 [T/C] NM_001144777,NM_001144776,NM_001144775,NM_001144774,NM_021952 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent rs6588376 1 50602495 [A/G] NM_001144777,NM_001144776,NM_001144775,NM_001144774,NM_021952 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent rs3902720 1 50605337 [T/C] NM_001144777,NM_001144776,NM_001144775,NM_001144774,NM_021952 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent exm58161 1 50610767 [A/G] NM_001144777,NM_001144776,NM_001144775,NM_001144774,NM_021952 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 EXON Missense_V53I,Missense_V50I,Missense_V67I,Missense_V50I,Missense_V50I rs4926844 1 50613772 [A/G] NM_001144777,NM_001144776,NM_001144775,NM_001144774,NM_021952 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 Silent,Silent,Silent,Silent,Silent exm58164 1 50642851 [A/C] NM_001144777,NM_001144776,NM_001144775,NM_001144774,NM_021952 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_001144774,NM_021952 ELAVL4,ELAVL4,ELAVL4,ELAVL4,ELAVL4 EXON Missense_L228I,Missense_L225I,Missense_L242I,Missense_L225I,Missense_L225I rs2480687 1 50679059 [A/G] exm2268888 1 50684153 [T/C] rs2494881 1 50684153 [T/C] rs3001644 1 50722989 [A/G] rs1875635 1 50765982 [A/G] rs11205703 1 50785428 [A/G] rs1110220 1 50815397 [A/G] rs11205716 1 50835606 [A/G] rs6660621 1 50838990 [T/C] exm-rs2055491 1 50852769 [T/C] rs7413619 1 50863454 [A/G] rs1502856 1 50871847 [A/G] rs2784143 1 50874830 [T/C] exm2252034 1 50885075 [A/T] NM_032110 DMRTA2 EXON Synonymous_G297G rs17382304 1 50901078 [T/C] rs4381241 1 50907438 [T/C] NM_007051 FAF1 Silent rs718257 1 50911157 [A/G] NM_007051 FAF1 Silent rs17106219 1 50935031 [T/C] NM_007051 FAF1 Silent rs3827730 1 50937848 [T/C] NM_007051 FAF1 Silent variant.3383 1 50941136 [A/G] NM_007051 FAF1 EXON Synonymous_D623D rs10493149 1 50970475 [A/G] NM_007051 FAF1 Silent kgp6738702 1 50972015 [A/G] NM_007051 FAF1 Silent rs1149795 1 50972564 [A/G] NM_007051 FAF1 Silent rs17383290 1 51039300 [A/G] NM_007051 FAF1 Silent variant.3384 1 51048290 [A/C] NM_007051 FAF1 EXON Missense_D371E rs12082106 1 51061184 [T/C] NM_007051 FAF1 Silent exm58267 1 51061810 [A/G] NM_007051 FAF1 EXON Missense_R275W kgp5319466 1 51063131 [T/C] NM_007051 FAF1 Silent rs12063643 1 51066887 [T/C] NM_007051 FAF1 Silent rs12120719 1 51092829 [T/C] NM_007051 FAF1 Silent rs11205760 1 51174330 [T/C] NM_007051 FAF1 Silent rs6672112 1 51188594 [T/C] NM_007051 FAF1 Silent exm58279 1 51204557 [A/G] NM_007051 FAF1 EXON Missense_P177S exm58284 1 51210400 [T/G] NM_007051 FAF1 EXON Missense_K139Q rs11205768 1 51220127 [T/C] NM_007051 FAF1 Silent variant.3387 1 51253786 [A/G] NM_007051 FAF1 EXON Nonsense_R85X kgp4369223 1 51255320 [T/C] NM_007051 FAF1 Silent rs7522611 1 51257608 [T/C] NM_007051 FAF1 Silent exm58296 1 51323615 [T/G] NM_007051 FAF1 EXON Missense_N34H rs12088617 1 51347213 [T/G] NM_007051 FAF1 Silent rs7525655 1 51368512 [T/C] NM_007051 FAF1 Silent rs12118519 1 51370117 [A/G] NM_007051 FAF1 Silent kgp8747293 1 51379945 [A/G] NM_007051 FAF1 Silent 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] rs11588271 1 51470242 [A/G] rs3813634 1 51475488 [A/G] rs11205801 1 51484626 [T/G] rs7541663 1 51544465 [T/C] exm-rs17391905 1 51546140 [T/G] exm58328 1 51578237 [T/C] NM_001136508 C1orf185 EXON Nonsense_R40X rs6704076 1 51582592 [A/C] NM_001136508 C1orf185 Silent exm58332 1 51584465 [T/C] NM_001136508 C1orf185 EXON Nonsense_Q84X exm58338 1 51613354 [A/G] NM_001136508 C1orf185 EXON Missense_G171R rs12074413 1 51616379 [A/G] rs11205821 1 51631884 [T/C] rs12744230 1 51632964 [A/G] 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 indel.3397 1 51770774 [I/D] NM_001144832,NM_001080494 TTC39A,TTC39A EXON exm58419 1 51778500 [C/G] NM_001144832,NM_001080494 TTC39A,TTC39A EXON Missense_Q92E,Missense_Q89E var_1_51778617 1 51778617 [T/C] NM_001144832,NM_001080494 TTC39A,TTC39A Silent,Silent exm2268889 1 51804731 [T/C] NM_001144832 TTC39A Silent exm58435 1 51826853 [T/C] NM_001981,NM_001159969 EPS15,EPS15 EXON Missense_N845S,Missense_N531S rs17567 1 51826921 [T/C] NM_001981,NM_001159969 EPS15,EPS15 EXON Missense_I822M,Missense_I508M exm58438 1 51826921 [T/C] NM_001981,NM_001159969 EPS15,EPS15 EXON Missense_I822M,Missense_I508M exm58448 1 51829651 [T/A] NM_001981,NM_001159969 EPS15,EPS15 EXON Missense_N749I,Missense_N435I rs6673480 1 51859242 [T/C] NM_001981,NM_001159969 EPS15,EPS15 Silent,Silent exm58452 1 51860059 [T/C] NM_001981,NM_001159969 EPS15,EPS15 EXON Missense_D705N,Missense_D391N exm58454 1 51860112 [A/G] NM_001981,NM_001159969 EPS15,EPS15 EXON Missense_T687M,Missense_T373M exm1824888 1 51866591 [A/G] NM_001981,NM_001159969 EPS15,EPS15 EXON Synonymous_I639I,Synonymous_I325I exm58463 1 51868160 [C/G] NM_001981,NM_001159969 EPS15,EPS15 EXON Missense_G610A,Missense_G296A exm58473 1 51871587 [T/G] NM_001981,NM_001159969 EPS15,EPS15 EXON Missense_Q556P,Missense_Q242P exm58476 1 51871634 [A/C] NM_001981,NM_001159969 EPS15,EPS15 EXON Missense_N540K,Missense_N226K exm58479 1 51871731 [T/G] NM_001981,NM_001159969 EPS15,EPS15 EXON Missense_Q508P,Missense_Q194P exm58483 1 51873879 [A/C] NM_001981,NM_001159969 EPS15,EPS15 EXON Missense_S467R,Missense_S153R indel.3402 1 51873951 [I/D] NM_001981,NM_001159969 EPS15,EPS15 EXON exm58487 1 51873956 [A/T] NM_001981,NM_001159969 EPS15,EPS15 EXON Missense_T442S,Missense_T128S exm58489 1 51873967 [A/G] NM_001981,NM_001159969 EPS15,EPS15 EXON Missense_S438L,Missense_S124L 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 rs10788934 1 51923614 [A/C] NM_001981 EPS15 Silent exm58536 1 51930938 [A/C] NM_001981 EPS15 EXON Missense_V124L rs6661367 1 51935727 [T/C] NM_001981 EPS15 Silent var_1_51937362 1 51937362 [T/C] NM_001981 EPS15 EXON Synonymous_Q71Q rs10493154 1 51938848 [T/C] NM_001981 EPS15 Silent exm58554 1 51984894 [T/C] NM_001981 EPS15 EXON Missense_A4T rs7541084 1 51989591 [A/G] rs17394299 1 52008153 [A/G] rs6588412 1 52016713 [T/C] rs7534689 1 52026384 [A/C] rs12038297 1 52033122 [A/C] rs12127044 1 52033856 [T/G] kgp2444821 1 52034812 [T/C] rs6695853 1 52097580 [A/G] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent rs11205875 1 52112526 [T/G] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent kgp7419103 1 52119992 [T/C] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent rs12074299 1 52163537 [A/G] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 Silent,Silent,Silent,Silent,Silent exm58579 1 52211229 [T/C] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908,NM_148907,NM_148904,NM_148905 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Missense_P137S,Missense_P97S,Missense_P114S,Missense_P114S,Missense_P17S,Silent,Silent exm58585 1 52212387 [T/G] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908,NM_148907,NM_148904,NM_148905 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Missense_F163L,Missense_F123L,Missense_F140L,Missense_F140L,Missense_F43L,Silent,Silent exm1824980 1 52215832 [A/G] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908,NM_148907,NM_148904,NM_148905 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Missense_I193V,Missense_I153V,Missense_I170V,Missense_I170V,Missense_I73V,Missense_I5V,Missense_I5V exm58590 1 52221995 [T/C] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908,NM_148907,NM_148904,NM_148905 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Silent,Nonsense_Q166X,Nonsense_Q183X,Silent,Silent,Silent,Silent exm58592 1 52222016 [A/G] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908,NM_148907,NM_148904,NM_148905 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Silent,Missense_A173T,Missense_A190T,Silent,Silent,Silent,Silent exm58595 1 52226377 [A/G] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908,NM_148907,NM_148904,NM_148905 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Missense_V210I,Missense_V183I,Missense_V200I,Missense_V187I,Missense_V90I,Missense_V22I,Missense_V22I exm58597 1 52226396 [T/C] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908,NM_148907,NM_148904,NM_148905 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Missense_P216L,Missense_P189L,Missense_P206L,Missense_P193L,Missense_P96L,Missense_P28L,Missense_P28L exm58599 1 52227610 [A/G] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908,NM_148907,NM_148904,NM_148905 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Missense_G259R,Missense_G232R,Missense_G249R,Missense_G236R,Missense_G139R,Missense_G71R,Missense_G71R exm58605 1 52231560 [T/C] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908,NM_148907,NM_148904,NM_148905 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Missense_T292I,Missense_T265I,Missense_T282I,Missense_T269I,Missense_T172I,Missense_T104I,Missense_T104I indel.3412 1 52231652 [D/I] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908,NM_148907,NM_148904,NM_148905 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON exm58610 1 52237815 [T/C] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908,NM_148907,NM_148904,NM_148905 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Missense_S348P,Missense_S321P,Missense_S338P,Missense_S325P,Missense_S228P,Missense_S160P,Missense_S160P exm58614 1 52238313 [T/C] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908,NM_148907,NM_148904,NM_148905 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Missense_A373V,Missense_A346V,Missense_A363V,Missense_A350V,Missense_A253V,Missense_A185V,Missense_A185V exm58639 1 52251499 [T/A] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908,NM_148907,NM_148904,NM_148905 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Missense_S627T,Missense_S600T,Missense_S617T,Missense_S604T,Missense_S507T,Missense_S439T,Missense_S439T exm58643 1 52252234 [A/G] NR_036662,NM_148909,NM_148906,NM_024586,NM_148908,NM_148907,NM_148904,NM_148905 OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9,OSBPL9 EXON Silent,Missense_I659V,Missense_I632V,Missense_I649V,Missense_I636V,Missense_I539V,Missense_I471V,Missense_I471V variant.3415 1 52257245 [T/C] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 Silent,Silent,Silent exm58673 1 52257317 [T/A] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 EXON Missense_T901S,Missense_T1033S,Missense_T965S exm58688 1 52260253 [A/T] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 EXON Missense_E825V,Missense_E957V,Missense_E889V exm58691 1 52260518 [T/C] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 EXON Missense_M807I,Missense_M939I,Missense_M871I exm58696 1 52264013 [T/C] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 EXON Missense_G774S,Missense_G906S,Missense_G838S rs12063138 1 52268726 [T/C] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 Silent,Silent,Silent exm58703 1 52269601 [A/G] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 EXON Missense_T669M,Missense_T801M,Missense_T733M exm58710 1 52275032 [T/C] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 EXON Missense_E585K,Missense_E717K,Missense_E649K rs10888735 1 52275155 [T/C] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 Silent,Silent,Silent exm58715 1 52276000 [T/C] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 EXON Missense_K555R,Missense_K687R,Missense_K619R exm58722 1 52280454 [T/C] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 EXON Missense_G427S,Missense_G559S,Missense_G491S exm58730 1 52285516 [A/G] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 EXON Missense_L352S,Missense_L484S,Missense_L416S exm58735 1 52290964 [A/G] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 EXON Missense_F280S,Missense_F412S,Missense_F344S exm58744 1 52299824 [A/C] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 EXON Missense_L180W,Missense_L312W,Missense_L244W variant.3417 1 52301803 [T/C] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 EXON Missense_M174V,Missense_M306V,Missense_M238V variant.3418 1 52303159 [T/C] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 EXON Missense_R123K,Missense_R255K,Silent exm58761 1 52306066 [T/A] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 EXON Missense_E22D,Missense_E154D,Missense_E154D exm58764 1 52306086 [T/C] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 EXON Missense_E16K,Missense_E148K,Missense_E148K rs6676789 1 52316785 [T/C] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 Silent,Silent,Silent rs6663305 1 52343297 [A/G] NM_001242361,NM_002525,NM_001101662 NRD1,NRD1,NRD1 Silent,Silent,Silent exm2252067 1 52344084 [A/G] NM_002525,NM_001101662 NRD1,NRD1 EXON Synonymous_N68N,Synonymous_N68N exm58778 1 52344113 [T/C] NM_002525,NM_001101662 NRD1,NRD1 EXON Missense_T59A,Missense_T59A exm58779 1 52344122 [G/C] NM_002525,NM_001101662 NRD1,NRD1 EXON Missense_A56P,Missense_A56P exm58781 1 52344157 [A/G] NM_002525,NM_001101662 NRD1,NRD1 EXON Missense_P44L,Missense_P44L rs11205901 1 52348349 [A/G] rs1045633 1 52373863 [A/G] NM_002867 RAB3B EXON Silent 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 rs10888740 1 52400097 [A/G] NM_002867 RAB3B Silent rs4503295 1 52407430 [A/G] NM_002867 RAB3B Silent rs10888743 1 52423167 [T/C] NM_002867 RAB3B Silent rs2794997 1 52469594 [T/C] variant.3422 1 52486598 [A/G] NM_015913 TXNDC12 EXON Silent variant.3424 1 52489158 [T/C] NM_015913 TXNDC12 Silent variant.3425 1 52490245 [A/C] NM_015913 TXNDC12 EXON Nonsense_E98X exm58824 1 52492993 [A/G] NM_015913 TXNDC12 EXON Missense_T80M variant.3426 1 52498383 [A/G] NM_015913,NR_046406,NR_046405,NM_138417 TXNDC12,TXNDC12,TXNDC12,KTI12 EXON Silent,Silent,Silent,Nonsense_Q351X 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 variant.3432 1 52507209 [T/C] NM_015913,NR_046406,NR_046405 TXNDC12,TXNDC12,TXNDC12 EXON Missense_S53N,Silent,Silent 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 rs2809954 1 52521798 [T/G] NM_015913,NR_046406,NR_046405 TXNDC12,TXNDC12,TXNDC12 EXON Silent,Silent,Silent kgp15838037 1 52560928 [A/G] rs12038465 1 52568781 [A/G] rs11205935 1 52617169 [A/G] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 Silent,Silent,Silent rs7512531 1 52630296 [A/G] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 Silent,Silent,Silent rs12086028 1 52631292 [A/G] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 Silent,Silent,Silent rs11205940 1 52658156 [T/C] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 Silent,Silent,Silent rs6657731 1 52696159 [A/G] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 Silent,Silent,Silent indel.3433 1 52698917 [I/D] NM_007324,NM_004799,NM_007323 ZFYVE9,ZFYVE9,ZFYVE9 EXON 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 variant.3434 1 52740256 [A/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_D857N,Missense_D916N rs11205949 1 52744754 [T/G] NM_007324,NM_004799 ZFYVE9,ZFYVE9 Silent,Silent 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 variant.3436 1 52759349 [T/C] NM_007324,NM_004799 ZFYVE9,ZFYVE9 EXON Missense_L1025F,Missense_L1084F 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 rs7546223 1 52814170 [A/G] variant.3437 1 52820549 [A/G] NM_032449 CC2D1B EXON Nonsense_Q774X 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 variant.3445 1 52824403 [A/G] NM_032449 CC2D1B EXON Nonsense_R429X 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 rs11806164 1 52827032 [A/G] NM_032449 CC2D1B Silent 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 rs9633423 1 52836139 [A/G] exm2260412 1 52836736 [A/G] exm59254 1 52838992 [A/G] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_M816T,Missense_M811T,Missense_M816T exm59260 1 52840559 [T/C] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_V772I,Missense_V767I,Missense_V772I newrs61756138 1 52841102 [T/C] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_K768R,Missense_K763R,Missense_K768R exm59269 1 52841243 [T/C] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_R721Q,Missense_R716Q,Missense_R721Q var_1_52841246 1 52841246 [T/C] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_R720Q,Missense_R715Q,Missense_R720Q exm2233559 1 52847321 [A/G] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_A709V,Missense_A704V,Missense_A709V exm59271 1 52847342 [T/C] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_D702G,Missense_D697G,Missense_D702G var_1_52849109 1 52849109 [A/G] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_R666W,Missense_R661W,Missense_R666W exm59303 1 52850899 [T/C] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_C506Y,Missense_C501Y,Missense_C506Y exm59309 1 52851539 [A/T] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_E489V,Missense_E484V,Missense_E489V exm59313 1 52851594 [T/C] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_A471T,Missense_A466T,Missense_A471T exm59314 1 52851599 [T/C] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_C469Y,Missense_C464Y,Missense_C469Y exm59315 1 52851600 [A/G] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_C469R,Missense_C464R,Missense_C469R exm59318 1 52851608 [A/G] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_T466M,Missense_T461M,Missense_T466M var_1_52854114 1 52854114 [A/G] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Synonymous_S461S,Silent,Synonymous_S461S exm59319 1 52854114 [A/G] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Synonymous_S461S,Silent,Synonymous_S461S exm59323 1 52854175 [A/C] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_R441M,Missense_R441M,Missense_R441M exm59324 1 52854179 [A/G] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_S440P,Missense_S440P,Missense_S440P variant.3464 1 52854889 [T/C] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_R396Q,Missense_R396Q,Missense_R396Q exm59327 1 52854890 [A/G] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_R396W,Missense_R396W,Missense_R396W exm59332 1 52854961 [A/G] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_A372V,Missense_A372V,Missense_A372V variant.3465 1 52859236 [A/G] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Nonsense_R321X,Nonsense_R321X,Nonsense_R321X indel.3466 1 52859336 [I/D] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON exm59342 1 52859391 [A/G] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_S269L,Missense_S269L,Missense_S269L exm59344 1 52859407 [A/G] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_R264W,Missense_R264W,Missense_R264W exm59353 1 52861899 [T/G] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_Q180H,Missense_Q180H,Missense_Q180H indel.3467 1 52861976 [D/I] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON exm1826388 1 52862002 [A/G] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_T146M,Missense_T146M,Missense_T146M exm59358 1 52863406 [A/G] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_P118L,Missense_P118L,Missense_P118L variant.3468 1 52863417 [T/C] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Nonsense_W114X,Nonsense_W114X,Nonsense_W114X exm59360 1 52863445 [T/C] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_R105Q,Missense_R105Q,Missense_R105Q newrs141971656 1 52863488 [A/G] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Nonsense_R91X,Nonsense_R91X,Nonsense_R91X indel.3471 1 52867800 [D/I] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 exm59371 1 52867839 [G/C] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 EXON Missense_R19S,Missense_R19S,Missense_R19S rs7551213 1 52868227 [T/C] NM_004153,NM_001190819,NM_001190818 ORC1,ORC1,ORC1 Silent,Silent,Silent 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 variant.3473 1 52889540 [T/C] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 EXON Silent,Silent rs17107217 1 52889891 [A/C] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 Silent,Silent 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 rs1493365 1 53017445 [A/G] NM_015269,NM_001009881 ZCCHC11,ZCCHC11 Silent,Silent rs835337 1 53059106 [A/G] rs835342 1 53064034 [A/G] kgp15405122 1 53072432 [A/G] NM_015696 GPX7 EXON Missense_R72Q kgp6717648 1 53072454 [T/C] NM_015696 GPX7 EXON Synonymous_F79F exm59603 1 53072530 [T/C] NM_015696 GPX7 EXON Missense_R105C kgp15165835 1 53074261 [A/G] NM_015696 GPX7 EXON Silent rs1047619 1 53074412 [A/G] NM_015696 GPX7 EXON Silent rs1047635 1 53074532 [A/C] NM_015696 GPX7 EXON Silent kgp15489178 1 53074599 [A/G] NM_015696 GPX7 EXON Silent rs6588432 1 53081321 [A/G] exm-rs6688451 1 53086040 [T/C] exm59622 1 53099242 [A/G] NM_001042693 FAM159A EXON Missense_G26D rs11205983 1 53102133 [A/G] NM_001042693 FAM159A Silent rs554870 1 53106057 [A/G] NM_001042693 FAM159A Silent 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 rs936632 1 53111782 [A/C] NM_001042693 FAM159A Silent rs6692566 1 53114318 [A/G] NM_001042693 FAM159A Silent exm2252095 1 53114736 [T/C] NM_001042693 FAM159A Silent exm59647 1 53122648 [A/G] NM_001042693 FAM159A EXON Missense_D170G rs681865 1 53125600 [A/G] rs269303 1 53143271 [T/C] exm59649 1 53153432 [T/C] NM_023077 SELRC1 EXON Missense_K219R exm59650 1 53153451 [A/G] NM_023077 SELRC1 EXON Nonsense_R213X newrs149085843 1 53153451 [A/G] NM_023077 SELRC1 EXON Nonsense_R213X exm59665 1 53158503 [T/C] NM_023077 SELRC1 EXON Missense_R48Q indel.3481 1 53158511 [I/D] NM_023077 SELRC1 EXON exm59667 1 53158524 [A/C] NM_023077 SELRC1 EXON Missense_V41G exm59670 1 53158534 [A/G] NM_023077 SELRC1 EXON Missense_Y38H indel.3482 1 53163902 [D/I] NM_023077 SELRC1 EXON rs375945 1 53164220 [T/C] rs440871 1 53173052 [T/C] rs6703281 1 53180716 [T/C] rs11205998 1 53203586 [A/G] NM_024646 ZYG11B Silent rs6661196 1 53203664 [A/G] NM_024646 ZYG11B Silent rs11206006 1 53218380 [A/G] NM_024646 ZYG11B Silent rs6664794 1 53234874 [A/G] NM_024646 ZYG11B Silent newrs142037149 1 53236690 [A/G] NM_024646 ZYG11B Silent 1KG_1_53236781 1 53236781 [I/D] NM_024646 ZYG11B EXON exm59702 1 53237196 [A/G] NM_024646 ZYG11B EXON Missense_R234Q exm59722 1 53250673 [A/G] NM_024646 ZYG11B EXON Missense_D406G rs7523761 1 53250915 [T/C] NM_024646 ZYG11B Silent 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 rs17107438 1 53309807 [A/G] NM_001004339 ZYG11A Silent rs480299 1 53320274 [T/G] NM_001004339 ZYG11A EXON Missense_E76D 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 variant.3486 1 53323042 [T/G] NM_001004339 ZYG11A EXON Nonsense_L210X exm59779 1 53326421 [A/G] NM_001004339 ZYG11A EXON Missense_M343V rs1672909 1 53340824 [A/G] NM_001004339 ZYG11A Silent 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_001198962,NM_001198961,NM_018281 ECHDC2,ECHDC2,ECHDC2 EXON Silent,Nonsense_R248X,Nonsense_R217X exm59819 1 53364875 [T/C] NM_001198962,NM_001198961,NM_018281 ECHDC2,ECHDC2,ECHDC2 EXON Silent,Missense_G242S,Missense_G211S exm59821 1 53364889 [A/T] NM_001198962,NM_001198961,NM_018281 ECHDC2,ECHDC2,ECHDC2 EXON Silent,Missense_I237N,Missense_I206N exm59825 1 53370340 [A/G] NM_001198962,NM_001198961,NM_018281 ECHDC2,ECHDC2,ECHDC2 EXON Missense_L196P,Missense_L227P,Missense_L196P exm59826 1 53370357 [T/G] NM_001198962,NM_001198961,NM_018281 ECHDC2,ECHDC2,ECHDC2 EXON Nonsense_Y190X,Nonsense_Y221X,Nonsense_Y190X 1KG_1_53370388 1 53370388 [D/I] NM_001198962,NM_001198961,NM_018281 ECHDC2,ECHDC2,ECHDC2 EXON exm59829 1 53370392 [T/C] NM_001198962,NM_001198961,NM_018281 ECHDC2,ECHDC2,ECHDC2 EXON Missense_A179T,Missense_A210T,Missense_A179T exm59836 1 53370484 [T/C] NM_001198962,NM_001198961,NM_018281 ECHDC2,ECHDC2,ECHDC2 EXON Missense_R148H,Missense_R179H,Missense_R148H exm59849 1 53373560 [T/C] NM_001198962,NM_001198961,NM_018281 ECHDC2,ECHDC2,ECHDC2 EXON Missense_R115Q,Missense_R115Q,Missense_R115Q exm59850 1 53373561 [A/G] NM_001198962,NM_001198961,NM_018281 ECHDC2,ECHDC2,ECHDC2 EXON Missense_R115W,Missense_R115W,Missense_R115W rs562641 1 53374666 [T/C] NM_001198962,NM_001198961,NM_018281 ECHDC2,ECHDC2,ECHDC2 Silent,Silent,Silent exm59856 1 53377291 [T/C] NM_001198962,NM_001198961,NM_018281 ECHDC2,ECHDC2,ECHDC2 EXON Missense_R75Q,Missense_R75Q,Missense_R75Q rs12094972 1 53385292 [A/G] NM_001198962,NM_001198961,NM_018281 ECHDC2,ECHDC2,ECHDC2 Silent,Silent,Silent exm59885 1 53427197 [G/C] NM_002979,NM_001193600,NM_001193617,NM_001193599,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_T140S,Missense_T96S,Missense_T59S,Missense_T116S,Missense_T96S variant.3508 1 53427259 [T/C] NM_002979,NM_001193600,NM_001193617,NM_001193599,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2 EXON Nonsense_Q161X,Nonsense_Q117X,Nonsense_Q80X,Nonsense_Q137X,Nonsense_Q117X variant.3509 1 53440439 [A/G] NM_002979,NM_001193600,NM_001193617,NM_001193599,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent indel.3510 1 53442353 [D/I] NM_002979,NM_001193600,NM_001193617,NM_001193599,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2 exm59900 1 53444040 [T/G] NM_002979,NM_001193600,NM_001193617,NM_001193599,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent indel.3512 1 53446120 [D/I] NM_002979,NM_001193600,NM_001193617,NM_001193599,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2 EXON rs7544995 1 53448372 [A/G] NM_002979,NM_001193600,NM_001193617,NM_001193599,NM_001007098 SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent exm59917 1 53480714 [A/G] NM_002979,NM_001193600,NM_001193617,NM_001193599,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_S412G,Missense_S368G,Missense_S331G,Missense_S388G,Missense_R8G,Missense_S8G,Missense_S8G exm59923 1 53493685 [G/C] NM_002979,NM_001193600,NM_001193617,NM_001193599,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_A427G,Missense_A383G,Missense_A346G,Missense_A403G,Missense_A20G,Missense_A23G,Missense_A23G rs10437066 1 53495130 [A/G] NM_002979,NM_001193600,NM_001193617,NM_001193599,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12075895 1 53497421 [A/G] NM_002979,NM_001193600,NM_001193617,NM_001193599,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11808284 1 53504411 [A/G] NM_002979,NM_001193600,NM_001193617,NM_001193599,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7519017 1 53510925 [A/G] NM_002979,NM_001193600,NM_001193617,NM_001193599,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6588459 1 53511094 [T/C] NM_002979,NM_001193600,NM_001193617,NM_001193599,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm59927 1 53513608 [T/C] NM_002979,NM_001193600,NM_001193617,NM_001193599,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Missense_S516L,Missense_S472L,Missense_S435L,Missense_S492L,Missense_S109L,Missense_S112L,Silent rs8871 1 53516999 [A/C] NM_002979,NM_001193600,NM_001193617,NM_001193599,NM_001007100,NM_001007099,NM_001007250 SCP2,SCP2,SCP2,SCP2,SCP2,SCP2,SCP2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm59937 1 53527905 [G/C] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R5P,Missense_R5P,Silent,Silent exm59946 1 53532535 [C/G] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Silent,Silent,Missense_A10P,Missense_A10P exm1827877 1 53535477 [T/C] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R32C,Missense_R32C,Missense_R13C,Missense_R13C exm59950 1 53535478 [A/G] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R32H,Missense_R32H,Missense_R13H,Missense_R13H exm59955 1 53535499 [T/C] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_A39V,Missense_A39V,Missense_A20V,Missense_A20V exm59968 1 53535687 [A/C] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_L102M,Missense_L102M,Missense_L83M,Missense_L83M exm59969 1 53535699 [G/C] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_E106Q,Missense_E106Q,Missense_E87Q,Missense_E87Q exm59973 1 53535762 [A/G] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_V127I,Missense_V127I,Missense_V108I,Missense_V108I exm2252117 1 53540321 [T/C] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Silent,Synonymous_Y198Y,Synonymous_Y179Y,Synonymous_Y179Y variant.3522 1 53540342 [A/G] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Silent,Synonymous_K205K,Synonymous_K186K,Synonymous_K186K exm59994 1 53541538 [T/C] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Silent,Missense_T207I,Missense_T188I,Missense_T188I exm59995 1 53541549 [T/C] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Silent,Missense_R211C,Missense_R192C,Missense_R192C exm60000 1 53542915 [T/C] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Silent,Missense_M260T,Missense_M241T,Missense_M241T exm60007 1 53542998 [A/C] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Silent,Missense_L288M,Missense_L269M,Missense_L269M exm60009 1 53543382 [T/C] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_P161L,Missense_P303L,Missense_P284L,Missense_P284L exm60021 1 53544108 [A/G] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R215H,Missense_R357H,Missense_R338H,Missense_R338H exm60024 1 53544152 [A/G] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_V230M,Missense_V372M,Missense_V353M,Missense_V353M exm60028 1 53544219 [A/G] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R252Q,Missense_R394Q,Missense_R375Q,Missense_R375Q exm60041 1 53544449 [T/C] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R329C,Missense_R471C,Missense_R452C,Missense_R452C exm1827907 1 53544471 [A/G] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R336H,Missense_R478H,Missense_R459H,Missense_R459H exm60048 1 53544504 [A/G] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R347Q,Missense_R489Q,Missense_R470Q,Missense_R470Q exm60049 1 53544513 [T/C] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_T350M,Missense_T492M,Missense_T473M,Missense_T473M exm60054 1 53544597 [T/C] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_V378A,Missense_V520A,Missense_V501A,Missense_V501A exm60060 1 53544666 [A/G] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_R401H,Missense_R543H,Missense_R524H,Missense_R524H exm2233578 1 53546521 [T/C] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Missense_T451M,Missense_T593M,Missense_T574M,Missense_T574M variant.3524 1 53547714 [T/C] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Nonsense_Q481X,Nonsense_Q623X,Nonsense_Q604X,Nonsense_Q604X rs2282340 1 53551065 [A/G] NM_001199082,NM_153703,NM_001199080,NM_001199081 PODN,PODN,PODN,PODN EXON Silent,Silent,Silent,Silent exm60089 1 53553754 [T/C] NM_006671 SLC1A7 EXON Missense_Q537R exm60090 1 53553767 [T/C] NM_006671 SLC1A7 EXON Missense_V533I rs11583585 1 53554406 [T/C] NM_006671 SLC1A7 Silent 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 rs1288404 1 53557484 [T/C] NM_006671 SLC1A7 Silent rs12129653 1 53558366 [T/C] NM_006671 SLC1A7 EXON Synonymous_S297S 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 rs3766775 1 53567546 [A/G] NM_006671 SLC1A7 Silent rs2242274 1 53568980 [A/G] NM_006671 SLC1A7 Silent 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 rs11206101 1 53570659 [A/G] NM_006671 SLC1A7 Silent variant.3530 1 53571448 [T/C] NM_006671 SLC1A7 Silent rs1288369 1 53575575 [T/C] NM_006671 SLC1A7 Silent 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 rs3820201 1 53581670 [A/G] NM_006671 SLC1A7 Silent rs6694834 1 53587179 [T/C] NM_006671 SLC1A7 Silent rs3766792 1 53590423 [T/C] NM_006671 SLC1A7 Silent rs3766794 1 53591463 [A/G] NM_006671 SLC1A7 Silent rs10888767 1 53598126 [T/C] NM_006671 SLC1A7 Silent exm60215 1 53600047 [T/C] NM_006671 SLC1A7 EXON Missense_M64V rs1288367 1 53605884 [T/C] NM_006671 SLC1A7 Silent rs11206109 1 53606080 [T/C] NM_006671 SLC1A7 Silent rs34418279 1 53608425 [A/C] rs1320594 1 53610372 [A/C] rs10888768 1 53615541 [T/C] rs1288344 1 53621345 [T/G] rs1288347 1 53622093 [A/G] rs6682324 1 53626014 [A/G] rs12119155 1 53626467 [T/C] exm-rs6695567 1 53629585 [A/G] rs6695567 1 53629585 [A/G] rs874349 1 53631902 [T/C] rs7531337 1 53641911 [A/C] rs11206121 1 53643272 [A/G] rs6588471 1 53644967 [T/C] rs3102044 1 53646557 [T/C] 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 rs370493 1 53675049 [A/G] NM_000098 CPT2 Silent 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 variant.3537 1 53675949 [A/G] NM_000098 CPT2 EXON Nonsense_W201X newrs74315298 1 53676026 [T/C] NM_000098 CPT2 EXON Missense_P227L 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 indel.3542 1 53676339 [I/D] NM_000098 CPT2 EXON 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 rs1799821 1 53676448 [A/G] NM_000098 CPT2 EXON Missense_V368I exm60284 1 53676448 [A/G] NM_000098 CPT2 EXON Missense_V368I var_1_53676688 1 53676688 [T/C] NM_000098 CPT2 EXON Missense_F448L 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 indel.3551 1 53680396 [D/I] NM_017887 C1orf123 EXON exm60339 1 53681725 [T/C] NM_017887 C1orf123 EXON Missense_G115R variant.3552 1 53682457 [T/C] NM_017887 C1orf123 EXON Synonymous_P112P variant.3553 1 53682533 [T/C] NM_017887 C1orf123 Silent exm2233584 1 53684087 [A/G] NM_017887 C1orf123 EXON Synonymous_I76I var_1_53684538 1 53684538 [T/C] NM_017887 C1orf123 Silent rs10788949 1 53696051 [T/C] NM_002370 MAGOH Silent exm2268687 1 53696784 [T/G] NM_002370 MAGOH Silent rs3737984 1 53708850 [T/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Silent,Silent,Silent,Silent exm60394 1 53712727 [T/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Missense_R689Q,Missense_R893Q,Missense_R782Q,Missense_R952Q rs12031155 1 53714139 [T/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent exm60401 1 53715167 [A/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Silent,Silent,Missense_P743L,Missense_P913L exm60403 1 53716410 [A/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_D672D,Synonymous_D876D,Synonymous_D706D,Synonymous_D876D exm60404 1 53716416 [A/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_D670D,Synonymous_D874D,Synonymous_D704D,Synonymous_D874D rs3737983 1 53716416 [A/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_D670D,Synonymous_D874D,Synonymous_D704D,Synonymous_D874D variant.3559 1 53722912 [A/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Silent,Missense_Y812D,Missense_Y642D,Missense_Y812D exm60412 1 53722932 [G/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Silent,Missense_T805S,Missense_T635S,Missense_T805S exm2233585 1 53722952 [T/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Silent,Synonymous_P798P,Synonymous_P628P,Synonymous_P798P exm60413 1 53722953 [A/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Silent,Missense_P798L,Missense_P628L,Missense_P798L exm60416 1 53723042 [T/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Silent,Synonymous_S768S,Synonymous_S598S,Synonymous_S768S exm60423 1 53723993 [T/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Missense_R607Q,Missense_R736Q,Missense_R566Q,Missense_R736Q exm60426 1 53724026 [A/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Missense_M596R,Missense_M725R,Missense_M555R,Missense_M725R exm2233587 1 53726194 [A/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_A537A,Synonymous_A666A,Synonymous_A496A,Synonymous_A666A exm2276893 1 53726226 [A/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Missense_R527W,Missense_R656W,Missense_R486W,Missense_R656W exm60444 1 53728180 [T/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Missense_N442S,Missense_N571S,Missense_N401S,Missense_N571S exm60445 1 53729844 [T/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Missense_R422Q,Missense_R551Q,Missense_R381Q,Missense_R551Q exm1828090 1 53730068 [A/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_S347S,Synonymous_S476S,Synonymous_S306S,Synonymous_S476S exm60464 1 53732184 [T/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Missense_R334H,Missense_R463H,Missense_R293H,Missense_R463H exm60465 1 53732215 [T/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Missense_V324M,Missense_V453M,Missense_V283M,Missense_V453M exm60466 1 53732217 [A/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Missense_V323A,Missense_V452A,Missense_V282A,Missense_V452A exm60470 1 53732286 [T/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Missense_R300Q,Missense_R429Q,Missense_R259Q,Missense_R429Q exm60474 1 53736706 [A/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Missense_A287S,Missense_A416S,Missense_A246S,Missense_A416S exm60480 1 53736959 [T/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Missense_I227V,Missense_I356V,Missense_I186V,Missense_I356V exm1828103 1 53737015 [A/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Missense_L208P,Missense_L337P,Missense_L167P,Missense_L337P exm60486 1 53741391 [A/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_C177C,Synonymous_C306C,Silent,Synonymous_C306C exm60507 1 53742723 [T/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Silent,Missense_G175D,Silent,Missense_G175D exm60515 1 53746346 [T/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Missense_T137P,Missense_T137P,Missense_T137P,Missense_T137P rs17108202 1 53754891 [A/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs1288502 1 53757154 [A/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs11206140 1 53765434 [A/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs867884 1 53766972 [A/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs17108323 1 53784159 [T/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent rs1288520 1 53787633 [A/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 Silent,Silent,Silent,Silent exm60526 1 53792626 [T/G] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Synonymous_R55R,Synonymous_R55R,Synonymous_R55R,Synonymous_R55R exm60528 1 53792651 [A/C] NM_017522,NM_001018054,NM_033300,NM_004631 LRP8,LRP8,LRP8,LRP8 EXON Missense_D46E,Missense_D46E,Missense_D46E,Missense_D46E rs12083302 1 53803639 [T/C] rs2782493 1 53807803 [T/C] rs1416096 1 53808658 [T/C] rs12075186 1 53810030 [A/G] rs7535922 1 53814038 [T/C] rs6658926 1 53817135 [T/C] rs6588474 1 53817220 [T/C] rs12135186 1 53824428 [T/C] rs1999897 1 53829729 [T/C] rs17108398 1 53845985 [A/G] rs11206153 1 53852469 [A/G] rs1288590 1 53868891 [A/G] rs11206154 1 53877199 [T/G] rs6656566 1 53878651 [A/G] rs6686055 1 53881081 [T/C] rs12023145 1 53896599 [T/C] rs1766643 1 53901837 [T/C] rs9436924 1 53913080 [T/C] rs1288627 1 53924150 [T/C] exm60543 1 53925247 [T/C] NM_033067 DMRTB1 EXON Missense_Y41H rs1288628 1 53926037 [T/G] NM_033067 DMRTB1 Silent 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 rs943514 1 53930551 [A/G] NM_033067 DMRTB1 Silent exm60593 1 53932322 [A/G] NM_033067 DMRTB1 EXON Missense_E339G rs11579521 1 53936383 [A/G] rs11579575 1 53936718 [T/G] exm2260425 1 53946644 [A/G] rs1288617 1 53952141 [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 rs2280511 1 53976188 [T/C] NM_147193 GLIS1 Silent 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 rs542238 1 53996718 [T/G] NM_147193 GLIS1 Silent rs11206169 1 54005060 [T/C] NM_147193 GLIS1 Silent rs12403311 1 54007863 [T/C] NM_147193 GLIS1 Silent rs11206170 1 54010926 [A/G] NM_147193 GLIS1 Silent rs4575030 1 54024808 [T/C] NM_147193 GLIS1 Silent rs529674 1 54026880 [T/C] NM_147193 GLIS1 Silent rs4548383 1 54027035 [T/C] NM_147193 GLIS1 Silent rs3013760 1 54036593 [A/G] NM_147193 GLIS1 Silent rs2948045 1 54051898 [T/C] NM_147193 GLIS1 Silent 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 rs10788959 1 54068567 [T/G] NM_147193 GLIS1 Silent rs17382457 1 54071428 [A/G] NM_147193 GLIS1 Silent rs2948048 1 54074729 [A/G] NM_147193 GLIS1 Silent rs4926611 1 54111733 [T/C] NM_147193 GLIS1 Silent rs7529819 1 54114033 [T/C] NM_147193 GLIS1 Silent rs2141079 1 54120873 [T/C] NM_147193 GLIS1 Silent rs4927025 1 54131753 [T/C] NM_147193 GLIS1 Silent rs882879 1 54154726 [T/G] NM_147193 GLIS1 Silent rs11206202 1 54174607 [A/G] NM_147193 GLIS1 Silent rs11579257 1 54187449 [T/C] NM_147193 GLIS1 Silent rs797906 1 54190695 [A/C] NM_147193 GLIS1 Silent rs702491 1 54194992 [T/C] NM_147193 GLIS1 Silent rs808860 1 54196929 [T/C] NM_147193 GLIS1 Silent var_1_54233708 1 54233708 [T/C] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 Silent,Silent,Silent exm60748 1 54238077 [A/G] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 EXON Missense_T629I,Silent,Missense_T589I exm2275450 1 54252866 [A/G] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 EXON Missense_P589S,Silent,Missense_P549S exm60762 1 54258913 [A/G] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 EXON Missense_F542L,Silent,Missense_F502L exm60769 1 54262625 [A/G] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 EXON Missense_P472L,Silent,Missense_P432L exm60772 1 54262750 [T/G] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 EXON Missense_K430N,Silent,Missense_K390N rs1181180 1 54264996 [T/C] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 Silent,Silent,Silent rs1181145 1 54272330 [T/C] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 Silent,Silent,Silent variant.3569 1 54273328 [T/C] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 Silent,Silent,Silent exm60792 1 54273436 [T/C] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 EXON Missense_S262G,Silent,Missense_S222G exm60803 1 54291506 [T/C] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 EXON Missense_N187D,Silent,Missense_N147D exm60808 1 54293704 [T/G] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 EXON Missense_S141R,Silent,Missense_S101R exm60812 1 54293811 [T/C] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 EXON Missense_I106V,Silent,Silent exm60816 1 54298165 [A/G] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 EXON Missense_A93V,Silent,Missense_A93V exm60821 1 54301186 [T/C] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 EXON Missense_I55M,Silent,Missense_I55M exm2233597 1 54301224 [A/G] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 EXON Missense_F43L,Silent,Missense_F43L exm60822 1 54301238 [T/A] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 EXON Missense_I38N,Silent,Missense_I38N exm60823 1 54301284 [A/G] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 EXON Missense_W23R,Silent,Missense_W23R exm60825 1 54303892 [C/G] NM_018087,NR_033142,NM_001168551 TMEM48,TMEM48,TMEM48 EXON Missense_D15H,Silent,Missense_D15H rs11206226 1 54320337 [A/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 Silent,Silent,Silent rs6588492 1 54328025 [A/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 Silent,Silent,Silent exm60833 1 54331901 [A/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 EXON Missense_L268P,Silent,Silent exm60834 1 54331911 [T/C] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 EXON Missense_I265V,Silent,Silent newrs141323348 1 54331941 [A/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 EXON Nonsense_R255X,Silent,Silent exm60836 1 54331941 [A/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 EXON Nonsense_R255X,Silent,Silent exm60838 1 54331973 [A/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 EXON Missense_M244T,Silent,Silent exm60840 1 54332024 [T/C] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 EXON Missense_R227H,Silent,Silent exm1830849 1 54332025 [A/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 EXON Missense_R227C,Silent,Silent variant.3573 1 54332037 [A/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 EXON Nonsense_Q223X,Silent,Silent exm2268688 1 54333594 [T/C] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 Silent,Silent,Silent exm60847 1 54337043 [A/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 Silent,Silent,Silent exm60849 1 54337068 [T/C] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 EXON Missense_H153R,Silent,Silent exm60850 1 54337074 [A/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 EXON Missense_T151M,Silent,Silent rs10788964 1 54341947 [A/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 Silent,Silent,Silent rs7548793 1 54343342 [A/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 Silent,Silent,Silent variant.3575 1 54348786 [T/C] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 EXON Synonymous_E65E,Silent,Silent exm60870 1 54348892 [A/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 EXON Missense_I30T,Silent,Silent exm1830959 1 54348914 [T/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 EXON Missense_P23T,Silent,Silent rs926456 1 54354165 [A/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 Silent,Silent,Silent variant.3576 1 54354580 [T/C] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 EXON Missense_E11K,Silent,Silent variant.3577 1 54354613 [A/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 EXON Silent,Silent,Silent exm60875 1 54354658 [T/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 EXON Silent,Silent,Silent rs2294508 1 54354658 [T/G] NM_018982,NR_036640,NR_036639 YIPF1,YIPF1,YIPF1 EXON Silent,Silent,Silent exm2252151 1 54359937 [A/G] NM_213593,NM_001039715,NM_001039716,NM_000792 DIO1,DIO1,DIO1,DIO1 EXON Synonymous_E18E,Synonymous_E18E,Synonymous_E18E,Synonymous_E18E exm60880 1 54359937 [A/G] NM_213593,NM_001039715,NM_001039716,NM_000792 DIO1,DIO1,DIO1,DIO1 EXON Synonymous_E18E,Synonymous_E18E,Synonymous_E18E,Synonymous_E18E variant.3579 1 54359959 [A/G] NM_213593,NM_001039715,NM_001039716,NM_000792 DIO1,DIO1,DIO1,DIO1 EXON Missense_G26S,Missense_G26S,Missense_G26S,Missense_G26S exm60885 1 54360030 [T/A] NM_213593,NM_001039715,NM_001039716,NM_000792 DIO1,DIO1,DIO1,DIO1 EXON Silent,Synonymous_G49G,Synonymous_G49G,Synonymous_G49G exm1831110 1 54360137 [T/C] NM_213593,NM_001039715,NM_001039716,NM_000792 DIO1,DIO1,DIO1,DIO1 EXON Silent,Missense_T85M,Missense_T85M,Missense_T85M exm60895 1 54360178 [T/C] NM_213593,NM_001039715,NM_001039716,NM_000792 DIO1,DIO1,DIO1,DIO1 EXON Silent,Missense_R99C,Missense_R99C,Missense_R99C rs2268181 1 54361288 [T/C] NM_213593,NM_001039715,NM_001039716,NM_000792 DIO1,DIO1,DIO1,DIO1 Silent,Silent,Silent,Silent exm60903 1 54371825 [A/G] NM_213593,NM_001039715,NM_001039716,NM_000792 DIO1,DIO1,DIO1,DIO1 EXON Missense_R116H,Missense_R132H,Silent,Missense_R180H exm60905 1 54371837 [T/C] NM_213593,NM_001039715,NM_001039716,NM_000792 DIO1,DIO1,DIO1,DIO1 EXON Missense_A120V,Missense_A136V,Silent,Missense_A184V rs17109582 1 54375348 [T/C] NM_213593,NM_001039715,NM_001039716,NM_000792 DIO1,DIO1,DIO1,DIO1 Silent,Silent,Silent,Silent exm60912 1 54375637 [A/G] NM_213593,NM_001039715,NM_001039716,NM_000792 DIO1,DIO1,DIO1,DIO1 EXON Missense_E175K,Missense_E191K,Silent,Missense_E239K rs12063777 1 54381406 [T/C] exm1831396 1 54387395 [T/C] NM_016126 HSPB11 EXON Missense_A122T indel.3584 1 54387415 [I/D] NM_016126 HSPB11 EXON rs12067895 1 54389471 [A/C] NM_016126 HSPB11 Silent 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 variant.3586 1 54417904 [T/C] NM_052940,NM_001256409 LRRC42,LRRC42 EXON Nonsense_R78X,Nonsense_R78X exm60957 1 54418146 [T/G] NM_052940,NM_001256409 LRRC42,LRRC42 Silent,Silent variant.3588 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 indel.3590 1 54427743 [D/I] NM_052940,NM_001256409 LRRC42,LRRC42 EXON indel.3591 1 54427757 [I/D] NM_052940,NM_001256409 LRRC42,LRRC42 EXON 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 indel.3593 1 54433404 [D/I] NM_052940,NM_001256409 LRRC42,LRRC42 EXON 1KG_1_54433433 1 54433433 [D/I] NM_052940,NM_001256409 LRRC42,LRRC42 EXON 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 exm2252161 1 54433567 [T/C] NM_052940,NM_001256409 LRRC42,LRRC42 EXON Synonymous_Y414Y,Synonymous_Y414Y exm60998 1 54433567 [T/C] NM_052940,NM_001256409 LRRC42,LRRC42 EXON Synonymous_Y414Y,Synonymous_Y414Y exm2265010 1 54439366 [A/G] rs11206266 1 54443867 [T/C] rs620907 1 54468166 [T/G] exm61007 1 54474738 [T/C] NM_001276395,NM_001276393,NM_001276394,NM_001276392,NM_001010978 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Missense_D136N,Missense_D90N,Missense_D140N,Missense_D179N exm61009 1 54474768 [A/G] NM_001276395,NM_001276393,NM_001276394,NM_001276392,NM_001010978 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Missense_R126C,Missense_R80C,Missense_R130C,Missense_R169C exm61013 1 54475954 [T/C] NM_001276395,NM_001276393,NM_001276394,NM_001276392,NM_001010978 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 Silent,Silent,Silent,Silent,Silent exm61014 1 54475967 [A/C] NM_001276395,NM_001276393,NM_001276394,NM_001276392,NM_001010978 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Missense_M99I,Nonsense_E110X,Nonsense_E64X,Nonsense_E114X,Nonsense_E153X exm2275451 1 54476060 [C/G] NM_001276395,NM_001276393,NM_001276394,NM_001276392,NM_001010978 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Synonymous_P68P,Missense_H79D,Missense_H33D,Missense_H83D,Missense_H122D exm61019 1 54476084 [T/C] NM_001276395,NM_001276393,NM_001276394,NM_001276392,NM_001010978 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 Silent,Silent,Silent,Silent,Silent exm61021 1 54477834 [T/C] NM_001276395,NM_001276393,NM_001276394,NM_001276392,NM_001010978 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Synonymous_T54T,Missense_E65K,Silent,Missense_E69K,Missense_E108K exm61025 1 54477873 [T/C] NM_001276395,NM_001276393,NM_001276394,NM_001276392,NM_001010978 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Synonymous_G41G,Missense_V52I,Silent,Missense_V56I,Missense_V95I exm61030 1 54479986 [A/G] NM_001276395,NM_001276393,NM_001276394,NM_001276392,NM_001010978 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Silent,Silent,Silent,Silent,Missense_S42F rs11804837 1 54482915 [A/G] NM_001276395,NM_001276393,NM_001276394,NM_001276392,NM_001010978 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 Silent,Silent,Silent,Silent,Silent exm61034 1 54483090 [A/C] NM_001276395,NM_001276393,NM_001276394,NM_001276392,NM_001010978 LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1,LDLRAD1 EXON Missense_G11V,Missense_G11V,Missense_G11V,Silent,Missense_G11V rs1547467 1 54497040 [T/C] rs3766466 1 54505437 [A/C] NM_004872 TMEM59 Silent exm61051 1 54506486 [A/G] NM_004872 TMEM59 EXON Missense_A217V exm61055 1 54507479 [T/C] NM_004872 TMEM59 Silent variant.3599 1 54511361 [A/G] 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 rs17101261 1 54519731 [A/C] NM_153035 TCEANC2 Silent exm61098 1 54520184 [T/C] NM_153035 TCEANC2 EXON Missense_I30T exm61101 1 54534492 [A/G] NM_153035 TCEANC2 EXON Missense_K56E variant.3602 1 54534572 [T/C] NM_153035 TCEANC2 Silent rs10489447 1 54542362 [A/G] NM_153035 TCEANC2 Silent rs7556423 1 54546449 [A/G] NM_153035 TCEANC2 Silent newrs139735908 1 54554268 [A/G] NM_153035 TCEANC2 Silent exm61104 1 54554268 [A/G] NM_153035 TCEANC2 Silent exm1832305 1 54554291 [A/G] NM_153035 TCEANC2 EXON Missense_R89H indel.3604 1 54562008 [I/D] NM_153035 TCEANC2 EXON exm61116 1 54562010 [C/G] NM_153035 TCEANC2 EXON Missense_S164C exm1832348 1 54562033 [T/C] NM_153035 TCEANC2 EXON Missense_R172W rs7524477 1 54562444 [A/G] NM_153035 TCEANC2 EXON Silent rs7538004 1 54563522 [A/G] NM_153035 TCEANC2 EXON Silent rs4927055 1 54575746 [T/C] rs12063422 1 54585415 [T/C] rs7516442 1 54588110 [T/C] rs7516735 1 54588398 [A/C] rs12095916 1 54588636 [A/G] rs612368 1 54591322 [A/G] rs608395 1 54592897 [A/C] 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 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 rs3766465 1 54606804 [T/C] NM_201546 CDCP2 EXON Missense_G244R 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 rs1571541 1 54608352 [T/C] NM_201546 CDCP2 Silent exm61207 1 54610150 [T/C] NM_201546 CDCP2 EXON Missense_G139D exm61208 1 54610154 [T/C] NM_201546 CDCP2 EXON Missense_A138T rs4927065 1 54615232 [T/C] NM_201546 CDCP2 Silent rs6699826 1 54615558 [T/C] NM_201546 CDCP2 Silent rs660514 1 54625292 [A/G] rs625643 1 54637167 [T/C] exm61236 1 54640318 [T/C] NM_001031672 CYB5RL EXON Missense_T308A exm61243 1 54640430 [G/C] NM_001031672 CYB5RL EXON Missense_Q270H indel.3615 1 54644834 [I/D] NM_001031672 CYB5RL EXON 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 variant.3617 1 54649975 [T/G] NM_001031672 CYB5RL Silent variant.3618 1 54653320 [T/C] NM_001031672 CYB5RL Silent rs10888837 1 54655895 [A/G] NM_001031672 CYB5RL Silent 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 rs946448 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 variant.3621 1 54671080 [T/C] NM_016491 MRPL37 EXON Nonsense_R215X indel.3622 1 54675621 [D/I] NM_016491 MRPL37 EXON 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 rs4927071 1 54679912 [T/C] NM_016491 MRPL37 Silent exm1832550 1 54681841 [A/G] NM_016491 MRPL37 EXON Missense_V340M exm61351 1 54681920 [G/C] NM_016491 MRPL37 EXON Missense_C366S var_1_54681948 1 54681948 [A/G] NM_016491 MRPL37 EXON Nonsense_W375X rs642990 1 54688516 [T/C] rs10888843 1 54689461 [T/C] rs686930 1 54700707 [A/G] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent exm61421 1 54707182 [T/G] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 EXON Missense_I256L,Missense_I236L,Missense_I229L exm61428 1 54708960 [T/C] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 EXON Missense_G222S,Missense_G202S,Missense_G195S exm2252171 1 54718770 [T/C] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs687050 1 54718770 [T/C] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent exm61436 1 54722838 [T/C] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 EXON Missense_A157T,Silent,Missense_A130T rs3766431 1 54730036 [A/G] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs603901 1 54741767 [T/C] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs10788977 1 54751900 [T/C] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs4927084 1 54760066 [A/G] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs6694281 1 54769520 [T/C] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs12021758 1 54787049 [T/C] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs17110383 1 54790499 [T/C] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs4927092 1 54794819 [T/C] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs2076571 1 54818099 [T/C] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs7552342 1 54821429 [T/C] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs10489565 1 54826187 [T/C] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs12024740 1 54836906 [A/G] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs11206344 1 54852994 [A/C] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs6690450 1 54854079 [A/C] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs213496 1 54869816 [T/C] NM_145716,NM_018070,NM_001009955 SSBP3,SSBP3,SSBP3 Silent,Silent,Silent rs4927101 1 54883003 [A/G] rs11206349 1 54892741 [A/G] rs11206355 1 54905582 [T/C] rs1543369 1 54907935 [T/G] exm-rs1543369 1 54907935 [T/G] rs12758577 1 54908153 [A/C] rs4927123 1 54922003 [A/G] rs6656290 1 54943752 [T/C] rs190963 1 54946847 [A/G] rs4927133 1 54953523 [T/C] rs1888182 1 54967890 [T/C] rs299881 1 54968494 [T/C] rs4927135 1 54983931 [T/C] rs1105690 1 54986334 [T/C] rs12752888 1 54992939 [T/C] exm61537 1 55014013 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_R11W,Missense_R11W rs2133003 1 55022557 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 Silent,Silent rs405731 1 55033582 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 Silent,Silent rs300280 1 55033869 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 Silent,Silent rs1755588 1 55044940 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 Silent,Silent rs300269 1 55046392 [A/G] NM_015547,NM_147161 ACOT11,ACOT11 Silent,Silent rs17110757 1 55049806 [A/G] NM_015547,NM_147161 ACOT11,ACOT11 Silent,Silent exm61541 1 55050353 [A/G] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_R20H,Missense_R20H exm2233608 1 55050361 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_R23W,Missense_R23W exm61543 1 55050376 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_R28C,Missense_R28C exm61544 1 55050380 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_A29V,Missense_A29V rs1172779 1 55059295 [A/C] NM_015547,NM_147161 ACOT11,ACOT11 Silent,Silent exm61575 1 55060288 [A/G] NM_015547,NM_147161 ACOT11,ACOT11 EXON Synonymous_A177A,Synonymous_A177A exm2252187 1 55060288 [A/G] NM_015547,NM_147161 ACOT11,ACOT11 EXON Synonymous_A177A,Synonymous_A177A exm61579 1 55060362 [A/G] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_G202D,Missense_G202D exm61584 1 55062960 [A/G] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_M212I,Missense_M212I exm61585 1 55062965 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_P214L,Missense_P214L exm61591 1 55064970 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_R256W,Missense_R256W exm61593 1 55064980 [A/G] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_R259H,Missense_R259H exm1833415 1 55065022 [A/G] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_R273Q,Missense_R273Q exm1833416 1 55065042 [A/G] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_D280N,Missense_D280N exm61608 1 55067043 [T/A] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_D329V,Missense_D329V exm61611 1 55067086 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 EXON Synonymous_G343G,Synonymous_G343G exm61614 1 55068351 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_R347W,Missense_R347W exm61615 1 55068354 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_R348W,Missense_R348W exm1833431 1 55070053 [A/C] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_K396T,Missense_K396T exm61628 1 55070752 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_R414C,Missense_R414C exm61632 1 55072826 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 EXON Nonsense_Q464X,Nonsense_Q464X exm61635 1 55072856 [A/G] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_V474I,Missense_V474I exm61636 1 55072871 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_L479F,Missense_L479F exm61640 1 55072911 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_A492V,Missense_A492V rs12027962 1 55073396 [A/G] NM_015547,NM_147161 ACOT11,ACOT11 Silent,Silent exm61643 1 55073623 [A/G] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_Y504C,Missense_Y504C exm61649 1 55073660 [A/C] NM_015547,NM_147161 ACOT11,ACOT11 EXON Missense_H516Q,Missense_H516Q exm61660 1 55074645 [T/C] NM_015547,NM_147161 ACOT11,ACOT11 EXON Silent,Nonsense_Q549X exm1833449 1 55074683 [A/C] NM_015547,NM_147161 ACOT11,ACOT11 EXON Silent,Missense_N561K exm61670 1 55074978 [T/A] NM_015547,NM_147161,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_Y574F exm61672 1 55075005 [T/C] NM_015547,NM_147161,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_R565Q exm61673 1 55075006 [A/G] NM_015547,NM_147161,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Nonsense_R565X exm61677 1 55075062 [T/C] NM_015547,NM_147161,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_G546D exm61682 1 55075099 [G/C] NM_015547,NM_147161,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_R534G exm61684 1 55075122 [G/C] NM_015547,NM_147161,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_G526A exm61686 1 55075209 [A/G] NM_015547,NM_147161,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_M497T exm61694 1 55075341 [A/G] NM_015547,NM_147161,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_S453L exm61696 1 55075386 [T/G] NM_015547,NM_147161,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_H438P exm61700 1 55075444 [T/C] NM_015547,NM_147161,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_A419T exm61703 1 55075452 [A/G] NM_015547,NM_147161,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_A416V exm61706 1 55075516 [C/G] NM_015547,NM_147161,NM_176782 ACOT11,ACOT11,FAM151A EXON Silent,Silent,Missense_L395V exm1833464 1 55075518 [A/G] NM_015547,NM_147161,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 rs733035 1 55076430 [A/G] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent exm61736 1 55077278 [T/C] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent variant.3652 1 55077288 [A/G] NM_015547,NM_176782 ACOT11,FAM151A EXON Silent,Nonsense_Q311X 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 variant.3654 1 55080371 [A/G] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent 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 rs11206396 1 55085499 [T/C] NM_015547,NM_176782 ACOT11,FAM151A Silent,Silent 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 rs2117263 1 55089708 [A/C] NM_015547 ACOT11 Silent rs10736390 1 55103945 [A/G] rs752468 1 55117000 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 Silent,Silent,Silent,Silent,Silent rs7533275 1 55118162 [T/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 Silent,Silent,Silent,Silent,Silent exm61826 1 55118790 [C/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_S64C,Silent exm61827 1 55118832 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_E78G,Silent exm1833673 1 55118861 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_A88T,Silent exm61837 1 55118982 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_I128T,Silent variant.3661 1 55119039 [A/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Nonsense_S147X,Silent exm61841 1 55119144 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_H182R,Silent exm61847 1 55119410 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_S271G,Silent exm61852 1 55119467 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_V290M,Silent exm61854 1 55119515 [T/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_Y306D,Silent rs17399810 1 55119534 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_S312F,Silent exm61855 1 55119534 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_S312F,Silent exm61856 1 55119546 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_E316G,Silent exm61862 1 55119654 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_T352M,Silent exm61866 1 55119693 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_I365T,Silent exm61867 1 55119702 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_V368A,Silent exm61870 1 55119787 [A/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_N396K,Silent rs2570770 1 55120469 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 Silent,Silent,Silent,Silent,Silent variant.3662 1 55130838 [A/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 Silent,Silent,Silent,Silent,Silent indel.3663 1 55130858 [D/I] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON rs2078273 1 55130931 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 Silent,Silent,Silent,Silent,Silent rs643893 1 55132925 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 Silent,Silent,Silent,Silent,Silent exm61879 1 55134536 [T/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_V439F,Silent indel.3666 1 55134546 [I/D] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON exm61882 1 55134585 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_K455R,Silent exm61885 1 55136188 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_P470S,Silent exm61887 1 55136529 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_V509A,Silent exm61890 1 55136559 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_Q519R,Silent rs598130 1 55138294 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 Silent,Silent,Silent,Silent,Silent variant.3670 1 55139413 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Nonsense_R579X,Silent exm61907 1 55139471 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_P598L,Silent rs571199 1 55139618 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 Silent,Silent,Silent,Silent,Silent exm61908 1 55139691 [T/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_M601I,Silent exm61914 1 55139741 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_H618R,Silent exm61919 1 55139825 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 Silent,Silent,Silent,Silent,Silent exm61920 1 55144466 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_K663R,Silent exm61921 1 55144468 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_H664Y,Silent exm61925 1 55144505 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_Q676R,Silent exm61928 1 55144525 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_E683K,Silent exm61931 1 55144968 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_I694M,Silent exm61936 1 55145072 [C/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_S729T,Silent exm61943 1 55145619 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_R761Q,Silent exm61944 1 55145625 [T/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_R763L,Silent rs744748 1 55149254 [A/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 Silent,Silent,Silent,Silent,Silent exm61955 1 55151961 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_V851I,Silent exm61956 1 55151986 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_R859K,Silent exm61958 1 55151994 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_Y862H,Silent rs6588528 1 55156881 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 Silent,Silent,Silent,Silent,Silent exm61974 1 55161083 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_R962C,Silent exm61979 1 55161125 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_E976K,Silent exm61980 1 55161141 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_T981M,Silent rs6671173 1 55161844 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 Silent,Silent,Silent,Silent,Silent exm61985 1 55166015 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_R996C,Silent exm61986 1 55166016 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_R996H,Silent exm61990 1 55166079 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_I1017T,Silent exm61993 1 55166099 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Nonsense_R1024X,Silent exm62003 1 55166892 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_A1061V,Silent exm62007-other 1 55166995 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Synonymous_D1095D,Silent exm62012 1 55167782 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_S1102F,Silent rs3765018 1 55168298 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Synonymous_K1148K,Silent exm62025 1 55168357 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_A1168V,Silent exm62027 1 55168366 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_R1171Q,Silent exm62034 1 55172129 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_A1196T,Silent exm62040 1 55172201 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_M1220V,Silent exm62044 1 55174729 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_R1237H,Silent exm62046 1 55174748 [A/T] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Synonymous_A1243A,Silent exm62050 1 55175664 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_Y1259C,Silent exm62052 1 55175679 [A/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_Q1264R,Silent exm62058 1 55175775 [C/G] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_S1296T,Silent exm62061 1 55175807 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_R1307C,Silent exm62063 1 55175822 [T/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Nonsense_Q1312X,Silent exm1833882 1 55175825 [G/C] NR_037639,NR_026782,NR_037640,NM_001039464,NR_037641 HEATR8-TTC4,MROH7,HEATR8-TTC4,MROH7,HEATR8-TTC4 EXON Silent,Silent,Silent,Missense_A1313P,Silent exm62071 1 55182300 [A/T] NR_037639,NR_037640,NR_037641,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON Silent,Silent,Silent,Missense_S47T rs3766415 1 55183132 [A/G] NR_037639,NR_037640,NR_037641,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 Silent,Silent,Silent,Silent exm62079 1 55183290 [T/C] NR_037639,NR_037640,NR_037641,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON Silent,Silent,Silent,Missense_L119F exm1833957 1 55183300 [A/G] NR_037639,NR_037640,NR_037641,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON Silent,Silent,Silent,Missense_N122S indel.3685 1 55186886 [D/I] NR_037639,NR_037640,NR_037641,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON exm62090 1 55188389 [A/G] NR_037639,NR_037640,NR_037641,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON Silent,Silent,Silent,Missense_V171M exm62094 1 55188437 [T/C] NR_037639,NR_037640,NR_037641,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON Silent,Silent,Silent,Missense_L187F rs4926653 1 55196099 [A/G] NR_037639,NR_037640,NR_037641,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 Silent,Silent,Silent,Silent exm62104 1 55197246 [A/C] NR_037639,NR_037640,NR_037641,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON Silent,Silent,Silent,Missense_S257R exm62105 1 55197247 [A/G] NR_037639,NR_037640,NR_037641,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON Silent,Silent,Silent,Missense_S257N rs3737829 1 55203135 [A/G] NR_037639,NR_037640,NR_037641,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 Silent,Silent,Silent,Silent variant.3687 1 55203338 [A/G] NR_037639,NR_037640,NR_037641,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 Silent,Silent,Silent,Silent exm62126 1 55207157 [T/C] NR_037639,NR_037640,NR_037641,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON Silent,Silent,Silent,Missense_R379W variant.3688 1 55207181 [T/C] NR_037639,NR_037640,NR_037641,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON Silent,Silent,Silent,Nonsense_R387X var_1_55207184 1 55207184 [I/D] NR_037639,NR_037640,NR_037641,NM_004623 HEATR8-TTC4,HEATR8-TTC4,HEATR8-TTC4,TTC4 EXON rs4927155 1 55211397 [A/G] rs6695931 1 55212984 [A/C] rs2873551 1 55217907 [T/C] rs2108035 1 55218155 [T/C] rs12046989 1 55219540 [T/C] rs2527848 1 55220911 [T/G] rs2764822 1 55222080 [A/G] 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 newrs141760650 1 55224231 [A/G] NM_152268 PARS2 EXON Nonsense_R202X 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 rs11577368 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 rs628667 1 55249154 [T/C] NM_001114108 TTC22 Silent exm62222 1 55251766 [T/C] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_I304V,Missense_I304V variant.3692 1 55251796 [A/G] NM_001114108,NM_017904 TTC22,TTC22 EXON Nonsense_Q294X,Nonsense_Q294X 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 rs1147988 1 55259667 [A/G] NM_001114108,NM_017904 TTC22,TTC22 Silent,Silent 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 rs671108 1 55266797 [C/G] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_L14V,Missense_L14V exm62276 1 55266797 [C/G] NM_001114108,NM_017904 TTC22,TTC22 EXON Missense_L14V,Missense_L14V rs11206431 1 55270030 [A/G] 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 rs9782980 1 55273580 [T/G] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Missense_G126C,Missense_G126C 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 newrs148698352 1 55277538 [A/G] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Nonsense_W184X,Nonsense_W184X 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 rs616315 1 55278841 [A/G] NM_001110533,NM_152607 C1orf177,C1orf177 Silent,Silent newrs76967836 1 55279486 [A/G] NM_001110533,NM_152607 C1orf177,C1orf177 Silent,Silent 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 rs630895 1 55281991 [A/G] NM_001110533,NM_152607 C1orf177,C1orf177 Silent,Silent 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 rs4926659 1 55294722 [T/C] NM_001110533,NM_152607 C1orf177,C1orf177 Silent,Silent rs141014 1 55299139 [T/C] NM_001110533,NM_152607 C1orf177,C1orf177 Silent,Silent rs682615 1 55301220 [T/C] NM_001110533,NM_152607 C1orf177,C1orf177 Silent,Silent rs1544908 1 55302719 [A/C] NM_001110533,NM_152607 C1orf177,C1orf177 Silent,Silent exm2264839 1 55304970 [A/G] NM_001110533,NM_152607 C1orf177,C1orf177 Silent,Silent newrs147428017 1 55307307 [A/G] NM_001110533,NM_152607 C1orf177,C1orf177 EXON Silent,Nonsense_W401X 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 indel.3707 1 55307524 [I/D] NM_001110533,NM_152607 C1orf177,C1orf177 EXON rs12026851 1 55308221 [T/C] rs642998 1 55309354 [A/G] rs687912 1 55312440 [T/C] rs7374 1 55316322 [A/G] NM_014762 DHCR24 EXON Silent 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 rs718265 1 55319902 [A/G] NM_014762 DHCR24 EXON Synonymous_I342I rs642737 1 55333453 [A/G] NM_014762 DHCR24 Silent 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 rs7551288 1 55338679 [A/G] NM_014762 DHCR24 Silent rs6686859 1 55339086 [T/C] NM_014762 DHCR24 Silent exm62433 1 55341645 [T/C] NM_014762 DHCR24 EXON Missense_V155M rs638944 1 55341915 [T/G] NM_014762 DHCR24 Silent exm62445 1 55349442 [T/C] NM_014762 DHCR24 EXON Missense_R79Q rs4927176 1 55354335 [T/C] rs678358 1 55387637 [T/G] rs35526112 1 55391268 [T/C] rs2114580 1 55394648 [A/G] rs604778 1 55397406 [T/C] rs7549203 1 55413361 [A/C] rs12016659 1 55416775 [T/C] rs2114574 1 55422254 [T/C] rs6588539 1 55424178 [A/G] rs7531509 1 55432798 [A/G] rs2317951 1 55434648 [A/G] rs2253466 1 55446671 [T/C] NM_182532 TMEM61 EXON Silent 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 rs2495513 1 55457815 [T/C] NM_182532 TMEM61 EXON Silent 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 rs759914 1 55465594 [T/G] NM_057176 BSND Silent rs9662946 1 55471468 [T/C] NM_057176 BSND Silent rs4927186 1 55472365 [A/G] NM_057176 BSND Silent 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 rs6682884 1 55474325 [A/C] NM_057176 BSND EXON Silent rs2495508 1 55478678 [T/G] rs2479394 1 55486064 [A/G] rs2495499 1 55494682 [T/C] exm-rs11206510 1 55496039 [T/C] rs2182833 1 55500429 [A/G] 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 rs499718 1 55512549 [T/C] NM_174936 PCSK9 Silent rs2495478 1 55512995 [A/G] NM_174936 PCSK9 Silent rs11206514 1 55516004 [A/C] NM_174936 PCSK9 Silent exm62616 1 55517952 [T/C] NM_174936 PCSK9 EXON Synonymous_D175D exm62621 1 55518085 [T/G] NM_174936 PCSK9 Silent rs2483205 1 55518316 [T/C] 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 rs693668 1 55521109 [A/G] NM_174936 PCSK9 Silent 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 rs562556 1 55524237 [A/G] NM_174936 PCSK9 EXON Missense_V474I 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 rs568052 1 55524842 [A/G] NM_174936 PCSK9 Silent 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 rs487230 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 rs17111584 1 55546696 [T/C] NM_015306 USP24 Silent 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 rs17111595 1 55556007 [T/C] NM_015306 USP24 Silent exm62781 1 55560999 [T/A] NM_015306 USP24 EXON Missense_D2044E exm62783 1 55561048 [T/C] NM_015306 USP24 EXON Missense_R2028H exm2252211 1 55563340 [T/C] NM_015306 USP24 EXON Synonymous_V1882V exm62792 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 variant.3747 1 55591067 [A/G] NM_015306 USP24 EXON Nonsense_R1296X 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 variant.3749 1 55599838 [T/C] NM_015306 USP24 Silent variant.3750 1 55599996 [T/C] NM_015306 USP24 Silent exm62850 1 55600058 [A/G] NM_015306 USP24 EXON Missense_A1077V exm62853 1 55603229 [T/C] NM_015306 USP24 EXON Missense_S1054G rs1165226 1 55608005 [T/C] NM_015306 USP24 Silent 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 rs1024305 1 55630204 [A/G] NM_015306 USP24 Silent 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 rs6703366 1 55673420 [T/G] NM_015306 USP24 Silent exm62949 1 55680722 [A/G] NM_015306 USP24 EXON Missense_T22I rs11206524 1 55688016 [T/C] rs7550296 1 55696884 [T/C] rs7516915 1 55711825 [A/G] rs4927207 1 55713628 [A/G] rs6684298 1 55717114 [T/G] rs7551981 1 55719166 [T/G] rs4926674 1 55727195 [T/C] rs6680729 1 55738797 [A/G] exm-rs12239436 1 55742837 [A/G] rs1874774 1 55743297 [T/G] rs9787299 1 55743352 [T/C] rs4927219 1 55751821 [A/G] rs6680609 1 55771636 [T/C] rs13353041 1 55773756 [A/G] rs12071251 1 55776971 [T/C] rs10888914 1 55786637 [T/C] rs2802884 1 55798691 [A/G] rs207164 1 55799770 [T/C] rs12146081 1 55806861 [A/C] rs207138 1 55811215 [T/C] rs207136 1 55814164 [T/C] rs880385 1 55820099 [T/G] rs7555489 1 55828641 [T/C] rs12141667 1 55832031 [A/G] rs910270 1 55833351 [A/G] rs7520205 1 55834309 [A/G] rs4926684 1 55852987 [A/G] rs761484 1 55862783 [T/C] rs2015252 1 55872780 [T/C] rs6588558 1 55884720 [T/C] rs4927235 1 55907494 [A/G] rs440336 1 55920490 [A/G] rs10888923 1 55930462 [A/G] rs769891 1 55932300 [A/G] rs4142664 1 55935941 [A/G] rs1499678 1 55939994 [T/C] rs7546894 1 55948307 [A/G] rs630446 1 55949987 [T/G] rs1165390 1 55966764 [A/C] rs1780522 1 55968289 [T/C] rs189593 1 55972596 [A/G] rs1695960 1 55983525 [A/G] rs1780541 1 55987794 [T/C] rs356081 1 55989646 [T/C] rs1078876 1 55989704 [A/G] rs1392127 1 56015915 [T/C] rs9787362 1 56023333 [A/G] rs6588562 1 56027175 [A/G] exm2252228 1 56035952 [T/C] rs1566399 1 56038407 [T/C] rs4927255 1 56041961 [A/C] rs904604 1 56042915 [A/G] rs10493194 1 56054865 [A/C] rs4927258 1 56067651 [A/G] rs11807964 1 56068394 [T/C] rs1499665 1 56069516 [T/C] rs6704127 1 56070382 [A/C] rs7555929 1 56075918 [A/G] rs10749702 1 56078416 [T/C] rs709396 1 56087509 [T/C] rs709397 1 56090323 [T/C] rs6700588 1 56099371 [A/C] rs1392138 1 56101597 [T/C] rs12405865 1 56106506 [T/C] rs72669744 1 56116505 [T/C] rs7540786 1 56119747 [T/G] rs1955318 1 56133634 [A/G] rs7518530 1 56143209 [A/G] rs2767503 1 56152725 [T/G] rs2767512 1 56158236 [A/G] rs1849680 1 56161430 [A/G] rs4927261 1 56161500 [T/C] rs2671245 1 56179614 [T/C] rs4111070 1 56195659 [A/G] rs1184810 1 56204848 [A/G] rs17112735 1 56207532 [T/C] rs1165500 1 56219293 [A/C] rs1165495 1 56222118 [A/G] rs749330 1 56240015 [T/C] rs12092608 1 56240702 [T/C] rs11577319 1 56243360 [A/G] rs4474302 1 56268037 [T/C] rs4367814 1 56269821 [T/C] rs12564526 1 56279686 [A/G] rs4512692 1 56287506 [A/G] rs12077235 1 56288116 [A/G] rs4540693 1 56325957 [A/C] rs9326038 1 56326293 [A/G] rs6657176 1 56328238 [T/G] rs17113019 1 56342433 [T/C] rs7516605 1 56343290 [A/C] rs6681658 1 56359597 [A/G] rs9803781 1 56359741 [T/C] rs17113092 1 56359754 [T/C] rs11800773 1 56382975 [T/C] rs11206686 1 56394673 [A/G] rs4573554 1 56398037 [T/C] rs11206687 1 56401121 [T/C] rs11206690 1 56407227 [A/G] rs7540718 1 56420527 [T/G] rs12409063 1 56432184 [A/G] rs10489777 1 56439909 [A/C] rs11206704 1 56444449 [T/C] rs12029607 1 56446105 [T/C] rs6677449 1 56458937 [A/G] exm2264840 1 56458937 [A/G] rs17113288 1 56499478 [T/C] rs11206718 1 56502227 [A/G] rs11206722 1 56506564 [A/C] rs6702275 1 56545484 [A/C] rs7538626 1 56553835 [T/C] rs1412215 1 56562921 [A/G] rs12025982 1 56564716 [A/G] rs6588607 1 56586286 [T/G] rs10888957 1 56591630 [T/C] rs11206745 1 56598523 [T/C] rs778124 1 56606206 [A/G] rs1757915 1 56615809 [A/G] rs778129 1 56642082 [A/G] rs1331862 1 56642998 [T/C] rs778420 1 56647914 [T/G] rs1149648 1 56657399 [A/G] rs17113488 1 56666118 [A/G] rs778432 1 56666809 [A/G] rs7554047 1 56668472 [T/C] rs697582 1 56670460 [T/G] rs706375 1 56681024 [T/C] rs7547680 1 56687749 [A/C] rs706356 1 56694460 [A/C] rs12121243 1 56703833 [T/C] rs778413 1 56707637 [T/G] rs2793694 1 56715332 [T/C] rs2793662 1 56725516 [T/C] rs2096086 1 56744527 [T/G] rs12755760 1 56754223 [A/C] rs2000141 1 56756491 [A/G] rs2793673 1 56756907 [T/C] rs2000144 1 56760616 [A/G] rs2994555 1 56783425 [A/G] rs2994553 1 56785889 [T/G] rs3005897 1 56786595 [T/C] rs12138574 1 56790773 [T/C] rs4912189 1 56792726 [T/C] rs3005911 1 56794965 [A/G] rs10159099 1 56800736 [A/G] rs4912413 1 56814694 [A/G] rs4600084 1 56844621 [T/G] rs6588624 1 56849539 [A/G] exm-rs11206801 1 56850686 [A/C] rs1931078 1 56870834 [A/G] rs2991265 1 56872357 [T/C] rs17469007 1 56872794 [T/G] rs12035812 1 56873274 [A/G] rs3005922 1 56873524 [A/G] rs17428956 1 56875043 [T/G] rs12093027 1 56885111 [T/C] rs7367993 1 56888166 [T/G] rs2780859 1 56895392 [A/C] rs12736058 1 56914341 [T/C] rs1889145 1 56915820 [A/G] rs2780866 1 56928413 [T/G] rs7368386 1 56929525 [A/C] rs11206816 1 56932035 [A/G] rs4912291 1 56941387 [T/C] rs4638151 1 56955386 [T/C] rs11206830 1 56960123 [T/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 rs4912314 1 56968477 [T/C] NM_003713 PPAP2B Silent rs1319274 1 56974091 [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 rs12081589 1 56981625 [T/C] NM_003713 PPAP2B Silent 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 rs1930760 1 57007539 [T/C] NM_003713 PPAP2B Silent exm2268691 1 57007539 [T/C] NM_003713 PPAP2B Silent rs11206841 1 57016862 [T/C] NM_003713 PPAP2B Silent rs7553307 1 57022282 [T/G] NM_003713 PPAP2B Silent rs1777283 1 57024560 [A/G] NM_003713 PPAP2B Silent rs2065553 1 57036017 [T/C] NM_003713 PPAP2B Silent rs933001 1 57042335 [T/C] NM_003713 PPAP2B Silent rs7539051 1 57042954 [A/G] NM_003713 PPAP2B Silent rs17408450 1 57057316 [A/G] rs6663578 1 57068107 [T/C] rs12137489 1 57081328 [T/C] rs2404987 1 57088605 [T/C] rs2404990 1 57095904 [T/C] rs10889000 1 57100380 [A/G] rs11206884 1 57103362 [T/C] rs10749709 1 57114671 [T/C] NM_006252 PRKAA2 Silent rs11206887 1 57116909 [A/G] NM_006252 PRKAA2 Silent rs11206889 1 57117248 [T/C] NM_006252 PRKAA2 Silent rs2746347 1 57126919 [T/C] NM_006252 PRKAA2 Silent rs2746339 1 57139370 [A/G] NM_006252 PRKAA2 Silent rs2179761 1 57157544 [A/G] NM_006252 PRKAA2 Silent exm63033 1 57158052 [T/C] NM_006252 PRKAA2 EXON Missense_R118W variant.3754 1 57159485 [T/G] NM_006252 PRKAA2 EXON Nonsense_G175X exm63042 1 57161694 [A/T] NM_006252 PRKAA2 EXON Missense_E217V exm63053 1 57169921 [T/G] NM_006252 PRKAA2 EXON Missense_A356S rs932447 1 57170229 [T/C] NM_006252 PRKAA2 Silent variant.3757 1 57171892 [A/G] NM_006252 PRKAA2 Silent exm63069 1 57173352 [T/C] NM_006252 PRKAA2 EXON Missense_M542T rs857148 1 57175158 [A/C] NM_006252 PRKAA2 EXON Silent rs4912411 1 57177244 [A/C] NM_006252 PRKAA2 EXON Silent rs9803799 1 57180072 [T/G] NM_006252 PRKAA2 EXON Silent rs706468 1 57181382 [A/G] variant.3758 1 57185353 [T/C] NM_001004303 C1orf168 EXON Nonsense_W726X rs11206908 1 57191659 [T/G] NM_001004303 C1orf168 Silent rs857138 1 57191924 [T/C] NM_001004303 C1orf168 Silent variant.3766 1 57192252 [A/C] NM_001004303 C1orf168 EXON Nonsense_E600X rs10489618 1 57192848 [A/G] NM_001004303 C1orf168 Silent indel.3767 1 57202765 [D/I] NM_001004303 C1orf168 EXON rs1935562 1 57203501 [T/C] NM_001004303 C1orf168 Silent exm63104 1 57204316 [T/G] NM_001004303 C1orf168 EXON Missense_I572L rs857124 1 57205595 [A/G] NM_001004303 C1orf168 Silent exm63108 1 57206385 [A/G] NM_001004303 C1orf168 EXON Missense_S563L variant.3769 1 57206470 [T/C] NM_001004303 C1orf168 Silent newrs148260034 1 57207829 [T/C] NM_001004303 C1orf168 Silent 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 newrs139281548 1 57209907 [A/C] NM_001004303 C1orf168 EXON Nonsense_E474X exm63128 1 57209907 [A/C] NM_001004303 C1orf168 EXON Nonsense_E474X exm63129 1 57209939 [T/C] NM_001004303 C1orf168 EXON Missense_C463Y rs6666850 1 57215026 [T/C] NM_001004303 C1orf168 Silent rs6696458 1 57216376 [A/G] NM_001004303 C1orf168 Silent exm63130 1 57216747 [A/G] NM_001004303 C1orf168 EXON Missense_P453S exm63133 1 57216786 [T/C] NM_001004303 C1orf168 EXON Missense_M440V variant.3773 1 57216795 [A/G] NM_001004303 C1orf168 EXON Nonsense_Q437X rs857111 1 57217116 [T/C] NM_001004303 C1orf168 Silent exm63139 1 57219539 [A/C] NM_001004303 C1orf168 EXON Missense_K400N rs857107 1 57222599 [T/C] NM_001004303 C1orf168 Silent exm63150 1 57224387 [A/T] NM_001004303 C1orf168 Silent variant.3777 1 57233502 [A/G] NM_001004303 C1orf168 EXON Missense_P355S rs1935561 1 57234065 [A/G] NM_001004303 C1orf168 Silent rs1557145 1 57241234 [T/C] NM_001004303 C1orf168 Silent rs1774822 1 57246662 [T/C] NM_001004303 C1orf168 Silent rs1569746 1 57246968 [A/G] NM_001004303 C1orf168 Silent rs1774825 1 57249558 [A/C] 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 indel.3781 1 57254777 [D/I] NM_001004303 C1orf168 EXON exm63168 1 57257735 [A/C] NM_001004303 C1orf168 EXON Missense_A251S exm63169 1 57257778 [C/G] NM_001004303 C1orf168 EXON Missense_S236R variant.3785 1 57257978 [A/C] NM_001004303 C1orf168 EXON Nonsense_E170X exm63182 1 57258111 [G/C] NM_001004303 C1orf168 EXON Missense_I125M indel.3786 1 57258131 [D/I] NM_001004303 C1orf168 EXON 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 rs1361730 1 57267946 [T/C] NM_001004303 C1orf168 Silent rs947639 1 57273172 [T/C] NM_001004303 C1orf168 Silent rs6673223 1 57282318 [T/G] NM_001004303 C1orf168 Silent exm63199 1 57284960 [C/G] NM_001004303 C1orf168 EXON Missense_E2Q rs1418440 1 57290659 [T/G] rs1033729 1 57316268 [T/C] rs647962 1 57318178 [T/C] 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 variant.3787 1 57333336 [A/G] NM_000562 C8A EXON Nonsense_W44X variant.3788 1 57333376 [T/G] NM_000562 C8A Silent rs706473 1 57339034 [A/G] NM_000562 C8A Silent rs1885002 1 57340381 [A/G] NM_000562 C8A Silent 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 rs10489624 1 57349614 [T/C] NM_000562 C8A Silent exm63259 1 57351704 [T/G] NM_000562 C8A EXON Missense_E320D indel.3791 1 57351823 [D/I] NM_000562 C8A EXON exm63264 1 57372463 [T/C] NM_000562 C8A EXON Missense_T407I variant.3792 1 57372466 [A/G] NM_000562 C8A Silent 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 indel.3794 1 57378209 [I/D] NM_000562 C8A EXON exm63293 1 57378223 [T/C] NM_000562 C8A EXON Missense_L510F rs11206934 1 57379401 [T/C] NM_000562 C8A Silent rs1754538 1 57379639 [T/C] NM_000562 C8A Silent 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 rs2149735 1 57389872 [T/G] exm63319 1 57395114 [A/C] NM_000066 C8B EXON Missense_C580F exm2233633 1 57395130 [T/C] NM_000066 C8B EXON Missense_N575D rs591730 1 57396014 [A/G] NM_000066 C8B Silent 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 rs582317 1 57413768 [A/G] NM_000066 C8B Silent variant.3798 1 57415242 [A/G] NM_000066 C8B EXON Nonsense_R284X 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 rs658285 1 57416335 [A/G] NM_000066 C8B Silent rs1960384 1 57417592 [A/C] NM_000066 C8B Silent exm63388 1 57417782 [A/G] NM_000066 C8B EXON Missense_P202L exm63397 1 57420448 [G/C] NM_000066 C8B EXON Missense_D148E rs620092 1 57421166 [T/C] NM_000066 C8B Silent newrs150022116 1 57422472 [A/G] NM_000066 C8B EXON Nonsense_R121X 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 indel.3803 1 57425789 [D/I] NM_000066 C8B EXON exm63418 1 57425792 [C/G] NM_000066 C8B EXON Missense_S50R exm63419 1 57425810 [G/C] NM_000066 C8B EXON Missense_N44K rs600876 1 57428866 [T/C] NM_000066 C8B Silent indel.3804 1 57431548 [I/D] NM_000066 C8B EXON variant.3805 1 57431595 [T/C] NM_000066 C8B EXON Nonsense_W9X exm1839462 1 57431601 [A/C] NM_000066 C8B EXON Missense_W7C rs1754511 1 57438919 [A/G] rs1623113 1 57441363 [A/G] exm63427 1 57476376 [A/C] NM_021080 DAB1 EXON Missense_G554C 1KG_1_57476862 1 57476862 [I/D] NM_021080 DAB1 EXON exm63453 1 57480822 [A/G] NM_021080 DAB1 EXON Missense_T393M rs706353 1 57485219 [T/G] NM_021080 DAB1 Silent 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 newrs138352976 1 57491654 [A/G] NM_021080 DAB1 EXON Synonymous_P262P rs3820578 1 57517439 [T/C] NM_021080 DAB1 Silent 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 rs6657073 1 57537652 [T/C] NM_021080 DAB1 Silent exm1840143 1 57538076 [A/C] NM_021080 DAB1 EXON Missense_H106Q rs3768190 1 57540909 [T/C] NM_021080 DAB1 Silent rs3729546 1 57541619 [A/G] NM_021080 DAB1 Silent rs517412 1 57560649 [T/C] NM_021080 DAB1 Silent rs573307 1 57560931 [A/G] NM_021080 DAB1 Silent rs482373 1 57562190 [T/C] NM_021080 DAB1 Silent rs11206973 1 57568923 [A/G] NM_021080 DAB1 Silent rs561503 1 57571980 [T/C] NM_021080 DAB1 Silent rs489049 1 57575069 [A/C] NM_021080 DAB1 Silent rs534080 1 57584721 [A/G] NM_021080 DAB1 Silent exm63507 1 57602311 [T/C] NM_021080 DAB1 EXON Missense_V71I rs563921 1 57602383 [T/C] NM_021080 DAB1 Silent exm2260473 1 57610673 [T/G] NM_021080 DAB1 Silent newrs148293352 1 57610963 [T/C] NM_021080 DAB1 EXON Synonymous_K69K rs6670988 1 57629549 [A/G] NM_021080 DAB1 Silent rs7530049 1 57641475 [A/G] NM_021080 DAB1 Silent rs10489464 1 57643701 [A/C] NM_021080 DAB1 Silent rs1504589 1 57645301 [A/C] NM_021080 DAB1 Silent rs9970802 1 57646661 [T/G] NM_021080 DAB1 Silent rs155298 1 57656501 [T/C] NM_021080 DAB1 Silent rs688382 1 57659614 [T/C] NM_021080 DAB1 Silent rs932508 1 57665337 [A/G] NM_021080 DAB1 Silent rs197614 1 57665590 [A/C] NM_021080 DAB1 Silent rs1847537 1 57666901 [T/C] NM_021080 DAB1 Silent rs155284 1 57674906 [T/C] NM_021080 DAB1 Silent rs502350 1 57677559 [T/C] NM_021080 DAB1 Silent rs197603 1 57679608 [T/C] NM_021080 DAB1 Silent rs197617 1 57685971 [A/G] NM_021080 DAB1 Silent rs657471 1 57697059 [A/G] NM_021080 DAB1 Silent rs12132898 1 57721731 [T/C] NM_021080 DAB1 Silent rs197644 1 57722095 [T/C] NM_021080 DAB1 Silent rs197636 1 57726537 [T/C] NM_021080 DAB1 Silent rs2551484 1 57734544 [T/C] NM_021080 DAB1 Silent rs584147 1 57737411 [A/G] NM_021080 DAB1 Silent rs596784 1 57744259 [T/G] NM_021080 DAB1 Silent rs492781 1 57749426 [T/C] NM_021080 DAB1 Silent rs595513 1 57756980 [T/G] NM_021080 DAB1 Silent exm2264841 1 57760458 [A/G] NM_021080 DAB1 Silent rs12564258 1 57771854 [A/G] NM_021080 DAB1 Silent rs746937 1 57784144 [T/C] NM_021080 DAB1 Silent rs4912163 1 57800885 [A/G] NM_021080 DAB1 Silent rs11207011 1 57803349 [A/G] NM_021080 DAB1 Silent exm-rs10159302 1 57805550 [A/C] NM_021080 DAB1 Silent rs12139429 1 57812260 [T/G] NM_021080 DAB1 Silent rs11800574 1 57814771 [A/C] NM_021080 DAB1 Silent rs1424465 1 57820539 [T/C] NM_021080 DAB1 Silent rs10047071 1 57841662 [T/C] NM_021080 DAB1 Silent rs3909556 1 57846985 [T/C] NM_021080 DAB1 Silent rs11805025 1 57850717 [A/C] NM_021080 DAB1 Silent rs486804 1 57858319 [T/C] NM_021080 DAB1 Silent rs17115750 1 57869430 [T/C] NM_021080 DAB1 Silent rs7523104 1 57892924 [T/A] NM_021080 DAB1 Silent rs11207036 1 57904853 [A/G] NM_021080 DAB1 Silent rs2781321 1 57909581 [A/G] NM_021080 DAB1 Silent rs4279875 1 57917398 [T/C] NM_021080 DAB1 Silent rs17115807 1 57921505 [T/C] NM_021080 DAB1 Silent rs11207039 1 57923439 [T/G] NM_021080 DAB1 Silent rs2406067 1 57933076 [T/C] NM_021080 DAB1 Silent exm-rs12407896 1 57933955 [A/G] NM_021080 DAB1 Silent rs9436131 1 57945943 [T/C] NM_021080 DAB1 Silent exm2268892 1 57956702 [T/C] NM_021080 DAB1 Silent rs2691465 1 57956702 [T/C] NM_021080 DAB1 Silent rs6700225 1 57961103 [T/C] NM_021080 DAB1 Silent rs1341318 1 57962373 [A/G] NM_021080 DAB1 Silent rs2691437 1 57975111 [A/G] NM_021080 DAB1 Silent rs1357787 1 57992413 [A/G] NM_021080 DAB1 Silent rs2793626 1 57996397 [T/C] NM_021080 DAB1 Silent rs1524713 1 58003131 [T/C] NM_021080 DAB1 Silent rs2691444 1 58004009 [T/C] NM_021080 DAB1 Silent rs2691447 1 58010227 [T/C] NM_021080 DAB1 Silent rs12733015 1 58019733 [A/G] NM_021080 DAB1 Silent rs6687355 1 58021206 [T/C] NM_021080 DAB1 Silent rs10493230 1 58050139 [T/C] NM_021080 DAB1 Silent rs947241 1 58051166 [T/C] NM_021080 DAB1 Silent rs11207070 1 58058589 [T/C] NM_021080 DAB1 Silent rs7528953 1 58068119 [T/G] NM_021080 DAB1 Silent rs1341322 1 58079143 [A/G] NM_021080 DAB1 Silent rs1983454 1 58096379 [T/G] NM_021080 DAB1 Silent rs7531119 1 58104110 [T/C] NM_021080 DAB1 Silent rs4484949 1 58111045 [T/C] NM_021080 DAB1 Silent rs10889061 1 58121100 [A/G] NM_021080 DAB1 Silent rs6672391 1 58124563 [A/G] NM_021080 DAB1 Silent rs4568858 1 58139294 [T/C] NM_021080 DAB1 Silent rs3131754 1 58143696 [A/G] NM_021080 DAB1 Silent rs3131780 1 58170218 [T/G] NM_021080 DAB1 Silent rs716417 1 58178715 [T/C] NM_021080 DAB1 Silent rs12136964 1 58181165 [T/C] NM_021080 DAB1 Silent rs3118024 1 58186694 [T/C] NM_021080 DAB1 Silent rs1886139 1 58202297 [T/C] NM_021080 DAB1 Silent rs4912173 1 58208267 [T/C] NM_021080 DAB1 Silent rs3118045 1 58209883 [A/G] NM_021080 DAB1 Silent rs10889070 1 58214656 [A/G] NM_021080 DAB1 Silent rs3131741 1 58227195 [T/C] NM_021080 DAB1 Silent rs17472345 1 58228412 [A/C] NM_021080 DAB1 Silent rs3118058 1 58234014 [A/G] NM_021080 DAB1 Silent rs3131743 1 58234133 [T/C] NM_021080 DAB1 Silent rs1924267 1 58247772 [T/C] NM_021080 DAB1 Silent rs1581762 1 58251060 [A/G] NM_021080 DAB1 Silent rs1323836 1 58256909 [T/G] NM_021080 DAB1 Silent rs6704346 1 58263621 [T/C] NM_021080 DAB1 Silent rs12140411 1 58272916 [A/G] NM_021080 DAB1 Silent rs852749 1 58280509 [T/C] NM_021080 DAB1 Silent rs706411 1 58292621 [A/G] NM_021080 DAB1 Silent rs706412 1 58317833 [A/G] NM_021080 DAB1 Silent rs852802 1 58323943 [T/C] NM_021080 DAB1 Silent rs1202822 1 58346207 [A/C] NM_021080 DAB1 Silent rs6670853 1 58352715 [T/C] NM_021080 DAB1 Silent rs1202829 1 58355969 [T/C] NM_021080 DAB1 Silent rs6679454 1 58367236 [A/G] NM_021080 DAB1 Silent exm2268693 1 58368541 [T/C] NM_021080 DAB1 Silent rs1202844 1 58368541 [T/C] NM_021080 DAB1 Silent rs1202794 1 58372040 [A/G] NM_021080 DAB1 Silent rs1884487 1 58375966 [T/C] NM_021080 DAB1 Silent rs1202802 1 58376247 [A/G] NM_021080 DAB1 Silent rs1202780 1 58394752 [T/C] NM_021080 DAB1 Silent rs1202769 1 58398753 [T/C] NM_021080 DAB1 Silent rs1857380 1 58403623 [A/G] NM_021080 DAB1 Silent rs1202788 1 58414715 [T/C] NM_021080 DAB1 Silent rs1343635 1 58431135 [T/C] NM_021080 DAB1 Silent rs7532719 1 58432755 [A/G] NM_021080 DAB1 Silent rs2764669 1 58448771 [A/G] NM_021080 DAB1 Silent rs1187988 1 58466016 [T/C] NM_021080 DAB1 Silent rs1325449 1 58471091 [T/C] NM_021080 DAB1 Silent rs17116712 1 58480921 [T/C] NM_021080 DAB1 Silent rs11207153 1 58482029 [A/G] NM_021080 DAB1 Silent rs1952046 1 58482341 [A/G] NM_021080 DAB1 Silent rs1325453 1 58488601 [T/G] NM_021080 DAB1 Silent rs1325454 1 58488751 [A/C] NM_021080 DAB1 Silent rs4110981 1 58512049 [T/C] NM_021080 DAB1 Silent rs11808372 1 58519672 [A/G] NM_021080 DAB1 Silent rs11591081 1 58520500 [T/C] NM_021080 DAB1 Silent rs11207160 1 58520774 [T/C] NM_021080 DAB1 Silent rs10443242 1 58526235 [A/G] NM_021080 DAB1 Silent rs2025617 1 58526854 [T/C] NM_021080 DAB1 Silent rs6657936 1 58528820 [T/G] NM_021080 DAB1 Silent rs6698482 1 58531627 [A/G] NM_021080 DAB1 Silent rs2764687 1 58544805 [A/G] NM_021080 DAB1 Silent rs873989 1 58556598 [T/C] NM_021080 DAB1 Silent rs1320555 1 58561954 [T/C] NM_021080 DAB1 Silent rs1416347 1 58574925 [A/G] NM_021080 DAB1 Silent rs1416346 1 58575317 [T/C] NM_021080 DAB1 Silent rs1342876 1 58578612 [T/C] NM_021080 DAB1 Silent rs17116983 1 58591848 [A/G] NM_021080 DAB1 Silent exm-rs558475 1 58601866 [A/C] NM_021080 DAB1 Silent rs17116988 1 58602197 [A/G] NM_021080 DAB1 Silent rs6667829 1 58610928 [T/G] NM_021080 DAB1 Silent rs2806399 1 58617269 [T/C] NM_021080 DAB1 Silent rs515683 1 58648969 [A/G] NM_021080 DAB1 Silent rs7524008 1 58666076 [A/C] NM_021080 DAB1 Silent rs7545320 1 58668913 [T/G] NM_021080 DAB1 Silent rs572888 1 58674799 [T/C] NM_021080 DAB1 Silent rs553133 1 58700416 [T/G] NM_021080 DAB1 Silent rs614373 1 58714427 [A/G] NM_021080 DAB1 Silent rs639241 1 58725716 [A/G] rs555213 1 58726579 [A/G] rs574802 1 58730127 [T/C] rs10493248 1 58730778 [A/G] rs689231 1 58742150 [A/G] rs17117233 1 58743154 [T/C] rs4912316 1 58743499 [A/G] exm-rs527409 1 58757915 [T/C] rs10493242 1 58783763 [T/C] rs10493240 1 58784150 [T/G] rs12726314 1 58792030 [T/C] rs1213640 1 58794017 [A/C] rs1213646 1 58802060 [T/C] rs2794651 1 58807475 [T/G] rs6686674 1 58811791 [A/G] rs4244014 1 58819774 [T/C] rs1318371 1 58821318 [A/G] rs11207206 1 58824988 [A/G] rs6695605 1 58827079 [A/G] rs12404972 1 58829981 [A/C] rs338941 1 58851991 [T/C] rs338935 1 58853893 [T/G] exm2252354 1 58855299 [T/C] rs849492 1 58857598 [A/C] rs338934 1 58857666 [A/G] rs10465839 1 58872522 [T/C] rs338911 1 58873906 [T/G] rs338905 1 58875644 [A/G] rs11207224 1 58877966 [T/C] rs706416 1 58884192 [A/G] rs706417 1 58885233 [T/C] rs849469 1 58894050 [T/C] rs706428 1 58902488 [T/C] rs706439 1 58908819 [T/C] rs706444 1 58910442 [A/G] rs706445 1 58911040 [A/C] exm2268893 1 58913654 [T/C] exm-rs10889092 1 58915024 [T/C] rs822165 1 58916818 [A/G] rs706454 1 58919090 [A/G] rs697587 1 58923511 [A/G] rs12040053 1 58926395 [T/G] rs338248 1 58931305 [A/C] rs697590 1 58933274 [T/C] exm63540 1 58946647 [A/G] NM_145243 OMA1 EXON Missense_T522M exm63542 1 58946710 [A/G] NM_145243 OMA1 EXON Missense_M501T indel.3812 1 58946828 [D/I] NM_145243 OMA1 EXON rs10489815 1 58949510 [A/C] NM_145243 OMA1 Silent exm63549 1 58971748 [A/T] NM_145243 OMA1 EXON Missense_D450V rs3087585 1 58971831 [A/G] NM_145243 OMA1 EXON Synonymous_F422F rs11581844 1 58974163 [T/C] NM_145243 OMA1 Silent rs6656025 1 58978397 [T/C] NM_145243 OMA1 Silent rs2271004 1 58996203 [T/C] NM_145243 OMA1 Silent exm63562 1 58996320 [A/C] NM_145243 OMA1 EXON Missense_D365Y rs17117678 1 58999651 [T/G] NM_145243 OMA1 EXON Missense_I329L 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 variant.3813 1 59000005 [T/C] NM_145243 OMA1 Silent 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 rs659061 1 59024435 [A/G] 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 rs232828 1 59047175 [T/C] rs12756352 1 59056198 [T/G] rs6664314 1 59056326 [T/C] rs6587830 1 59057933 [T/C] rs12745094 1 59075102 [T/C] rs232812 1 59079248 [T/C] rs170827 1 59081533 [T/G] rs2073094 1 59086221 [T/C] rs232915 1 59098228 [T/C] rs11207282 1 59114438 [A/G] rs232874 1 59118656 [T/G] rs232851 1 59122871 [T/C] NM_001085487 MYSM1 EXON Silent exm63675 1 59125683 [T/C] NM_001085487 MYSM1 EXON Missense_E825K rs7523134 1 59127086 [A/G] NM_001085487 MYSM1 EXON Synonymous_L754L exm63687 1 59131171 [A/G] NM_001085487 MYSM1 EXON Missense_R722C rs232790 1 59131311 [T/G] NM_001085487 MYSM1 Silent variant.3822 1 59132739 [A/G] NM_001085487 MYSM1 EXON Nonsense_R668X exm63705 1 59134708 [A/G] NM_001085487 MYSM1 EXON Missense_S555L rs678283 1 59137456 [T/C] NM_001085487 MYSM1 Silent exm63707 1 59137623 [A/G] NM_001085487 MYSM1 EXON Missense_S527F variant.3823 1 59142596 [A/G] NM_001085487 MYSM1 Silent 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 indel.3824 1 59147811 [I/D] NM_001085487 MYSM1 EXON exm63742 1 59147851 [A/G] NM_001085487 MYSM1 EXON Missense_L289F rs12139511 1 59147926 [T/C] NM_001085487 MYSM1 EXON Missense_T264A 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 var_1_59150911 1 59150911 [A/G] NM_001085487 MYSM1 EXON Nonsense_R138X exm63770 1 59156090 [T/C] NM_001085487 MYSM1 Silent variant.3828 1 59158533 [T/C] NM_001085487 MYSM1 EXON Missense_E73G exm-rs2811893 1 59162148 [T/C] NM_001085487 MYSM1 Silent rs4912202 1 59174026 [A/G] rs12073211 1 59175142 [T/C] rs11583201 1 59186777 [A/G] rs1969772 1 59205102 [A/G] rs12137541 1 59209416 [A/G] rs2811876 1 59215791 [A/G] rs10889118 1 59221647 [T/C] rs1007271 1 59231160 [A/G] rs1980700 1 59244792 [A/G] 1KG_1_59248649 1 59248649 [D/I] NM_002228 JUN EXON exm2268894 1 59251097 [T/G] NR_034014,NR_034015 LOC100131060,LOC100131060 Silent,Silent rs11207306 1 59258879 [T/C] NR_034014,NR_034015 LOC100131060,LOC100131060 Silent,Silent rs2999134 1 59277926 [T/C] NR_034014,NR_034015 LOC100131060,LOC100131060 Silent,Silent rs1815274 1 59301218 [T/C] NR_034014,NR_034015 LOC100131060,LOC100131060 Silent,Silent rs942124 1 59304910 [A/G] NR_034014,NR_034015 LOC100131060,LOC100131060 Silent,Silent rs9436174 1 59321745 [A/C] NR_034014,NR_034015 LOC100131060,LOC100131060 Silent,Silent exm-rs4601609 1 59325626 [T/C] NR_034014,NR_034015 LOC100131060,LOC100131060 Silent,Silent rs12038856 1 59326496 [A/G] NR_034014,NR_034015 LOC100131060,LOC100131060 Silent,Silent rs12133457 1 59330763 [A/G] NR_034014,NR_034015 LOC100131060,LOC100131060 Silent,Silent rs2716129 1 59342968 [A/G] NR_034014,NR_034015 LOC100131060,LOC100131060 Silent,Silent rs11207322 1 59352323 [A/C] NR_034014,NR_034015 LOC100131060,LOC100131060 Silent,Silent rs2716107 1 59353441 [A/G] NR_034014,NR_034015 LOC100131060,LOC100131060 Silent,Silent rs12117564 1 59355900 [T/C] NR_034014,NR_034015 LOC100131060,LOC100131060 Silent,Silent exm2268695 1 59368947 [T/G] rs17096897 1 59379043 [A/G] rs2764914 1 59395523 [A/G] rs6664131 1 59396262 [A/C] rs2764928 1 59422789 [T/G] rs3949912 1 59423103 [A/G] rs2764933 1 59435778 [T/C] rs2716128 1 59438203 [A/G] rs2764900 1 59466192 [A/G] rs11207367 1 59470439 [A/G] rs1812402 1 59474027 [T/C] rs2716121 1 59474554 [T/C] kgp8277711 1 59478801 [A/G] rs6687397 1 59526466 [A/G] rs12733019 1 59531321 [A/G] rs4128414 1 59533996 [A/C] rs7536474 1 59537214 [A/G] rs4424536 1 59544435 [A/G] rs3010323 1 59567263 [T/C] rs3010325 1 59569829 [T/C] rs1331746 1 59578785 [T/C] rs2985500 1 59588984 [T/C] rs182816 1 59601907 [T/C] NR_027120 HSD52 Silent rs4912389 1 59603757 [A/G] NR_027120 HSD52 Silent rs474103 1 59619571 [T/G] rs17118917 1 59623170 [A/G] rs615743 1 59623181 [T/G] rs12139438 1 59630555 [T/C] rs3850542 1 59635870 [A/C] rs11207416 1 59642102 [A/G] rs3850543 1 59653630 [A/G] rs12753566 1 59654019 [T/C] rs17119044 1 59655643 [A/C] rs17119061 1 59660903 [A/C] rs331635 1 59665542 [A/G] rs10493258 1 59665770 [A/G] rs12758288 1 59669708 [T/C] rs7540474 1 59693470 [T/G] rs6700125 1 59702797 [T/C] rs6703534 1 59703738 [T/C] rs17119139 1 59707863 [T/G] rs6683082 1 59708325 [A/G] rs1470407 1 59714992 [T/C] rs11207432 1 59715273 [A/G] rs17119164 1 59716214 [A/C] exm2252401 1 59734367 [T/C] rs863123 1 59754855 [T/C] rs835365 1 59757049 [T/C] rs835401 1 59782017 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent exm63817 1 59787270 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_V17I,Missense_V17I,Missense_V17I exm63819 1 59787350 [T/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_N43K,Missense_N43K,Missense_N43K exm63821 1 59787409 [G/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_C63S,Missense_C63S,Missense_C63S exm63822 1 59787414 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_V65I,Missense_V65I,Missense_V65I variant.3833 1 59787423 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs9787234 1 59796808 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent exm-rs17119280 1 59799161 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent variant.3834 1 59811930 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Nonsense_R109X,Nonsense_R109X,Silent rs835361 1 59814228 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs7539697 1 59832762 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs949827 1 59841785 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent exm2233644 1 59844449 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_A165V,Missense_A165V,Missense_A77V exm63835 1 59844459 [C/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_F168L,Missense_F168L,Missense_F80L exm63839 1 59844503 [C/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_T183R,Missense_T183R,Missense_T95R rs835426 1 59860445 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs628177 1 59869604 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs17119406 1 59869751 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs11576871 1 59875451 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs7520470 1 59891821 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs946574 1 59892655 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs1416788 1 59894323 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs4912396 1 59901944 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent exm63845 1 59922649 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_V191M,Missense_V191M,Missense_V103M var_1_59922715 1 59922715 [T/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Nonsense_E213X,Nonsense_E213X,Nonsense_E125X rs7550493 1 59936154 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs2407515 1 59936406 [T/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs6663897 1 59940664 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs626733 1 59946350 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs1188236 1 59951705 [T/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs592484 1 59969263 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent exm63851 1 59978048 [G/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_L246V,Missense_L246V,Missense_L158V exm63852 1 59978070 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_A253V,Missense_A253V,Missense_A165V rs6692151 1 59992986 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs7527689 1 60006785 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs11811141 1 60007658 [T/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs2272052 1 60019782 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent exm63856 1 60019796 [T/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_G267V,Missense_G267V,Missense_G179V exm63860 1 60019853 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_T286M,Missense_T286M,Missense_T198M exm63866 1 60019898 [T/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_G301V,Missense_G301V,Missense_G213V exm63867 1 60019899 [T/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Synonymous_G301G,Synonymous_G301G,Synonymous_G213G rs7555570 1 60020918 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs1440575 1 60023941 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent exm63871 1 60073550 [A/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_N327H,Missense_N327H,Missense_N239H exm63872 1 60073563 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_Q331R,Missense_Q331R,Missense_Q243R variant.3837 1 60073583 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent var_1_60073587 1 60073587 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent exm-rs12727131 1 60084516 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent exm63876 1 60091687 [T/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_A347S,Missense_A347S,Missense_A259S rs6690357 1 60099282 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs7524379 1 60100662 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent exm63880 1 60103910 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_I362V,Missense_I362V,Missense_I274V exm63882 1 60103931 [A/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_H369N,Missense_H369N,Missense_H281N exm63883 1 60103937 [G/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_D371H,Missense_D371H,Missense_D283H exm1845285 1 60103965 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_G380D,Missense_G380D,Missense_G292D exm63887 1 60104049 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent 1KG_1_60106962 1 60106962 [I/D] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON rs7540838 1 60128805 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent newrs115318188 1 60133075 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_G497S,Missense_G473S,Missense_G385S exm63915 1 60139794 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_A525T,Missense_A501T,Missense_A413T rs4578243 1 60140439 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs4912219 1 60146753 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent exm2252414 1 60152685 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs12732614 1 60157178 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs4357555 1 60161256 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs4244022 1 60164209 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs6685309 1 60173734 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs2897708 1 60201195 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent exm2268895 1 60211466 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs2179662 1 60213519 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs9726956 1 60215711 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent rs654165 1 60226496 [A/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY Silent,Silent,Silent indel.3843 1 60228227 [D/I] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON exm63922 1 60228246 [A/G] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_N573S,Missense_N549S,Missense_N461S exm1845312 1 60228254 [T/C] NM_001113411,NM_018291,NM_001244714 FGGY,FGGY,FGGY EXON Missense_X576R,Missense_X552R,Missense_X464R rs6672451 1 60259626 [A/G] rs11207520 1 60275095 [T/G] rs1933218 1 60279540 [T/G] 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 rs11207523 1 60302414 [T/C] NM_015888 HOOK1 Silent variant.3844 1 60306068 [A/G] NM_015888 HOOK1 Silent 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 variant.3847 1 60325873 [T/C] NM_015888 HOOK1 EXON Nonsense_R469X exm63973 1 60325933 [A/G] NM_015888 HOOK1 EXON Missense_I489V rs10493269 1 60327434 [T/C] NM_015888 HOOK1 Silent rs11207527 1 60330511 [A/G] NM_015888 HOOK1 Silent 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 rs12734028 1 60349843 [T/G] rs12064386 1 60352377 [A/C] rs2280273 1 60358982 [T/C] NM_000775 CYP2J2 EXON Silent kgp12171305 1 60359077 [A/T] NM_000775 CYP2J2 EXON Silent kgp15696966 1 60359335 [T/A] NM_000775 CYP2J2 EXON Synonymous_V499V exm64021 1 60359349 [A/G] NM_000775 CYP2J2 EXON Missense_R495C indel.3849 1 60359360 [D/I] NM_000775 CYP2J2 EXON exm2252415 1 60366746 [T/C] NM_000775 CYP2J2 EXON Synonymous_A407A rs1056596 1 60370601 [A/T] NM_000775 CYP2J2 EXON Missense_L378Q 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 variant.3851 1 60373458 [T/C] NM_000775 CYP2J2 EXON Missense_E335K exm64048 1 60373471 [T/G] NM_000775 CYP2J2 EXON Nonsense_Y330X newrs150250306 1 60373471 [T/G] NM_000775 CYP2J2 EXON Nonsense_Y330X rs11572279 1 60373500 [T/G] NM_000775 CYP2J2 EXON Synonymous_R321R exm1845358 1 60373527 [T/C] NM_000775 CYP2J2 EXON Missense_G312R exm64055 1 60375500 [A/C] NM_000775 CYP2J2 EXON Nonsense_E273X newrs143860781 1 60375613 [T/C] NM_000775 CYP2J2 EXON Nonsense_W235X exm64060 1 60377365 [T/C] NM_000775 CYP2J2 EXON Missense_R200H SNP47 1 60377885 [A/G] NM_000775 CYP2J2 EXON Missense_R158C SNP101 1 60377930 [T/C] NM_000775 CYP2J2 EXON Missense_T143A 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 kgp15417871 1 60381674 [A/G] NM_000775 CYP2J2 EXON Synonymous_H103H exm1845370 1 60381730 [T/C] NM_000775 CYP2J2 EXON Missense_D85N exm64080 1 60392209 [T/C] NM_000775 CYP2J2 EXON Synonymous_L70L kgp15360395 1 60392236 [A/G] NM_000775 CYP2J2 EXON Synonymous_F61F exm1845377 1 60392263 [A/G] NM_000775 CYP2J2 EXON Synonymous_F52F rs11572191 1 60392271 [A/G] NM_000775 CYP2J2 EXON Synonymous_L50L exm64090 1 60392390 [T/G] NM_000775 CYP2J2 EXON Missense_A10D rs12743907 1 60402488 [T/C] rs12731852 1 60408975 [T/C] rs11207546 1 60413925 [T/C] rs11800976 1 60446474 [T/C] rs2807616 1 60447656 [T/C] rs4915842 1 60454069 [A/G] 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 newrs114035967 1 60456491 [A/C] NM_152377 C1orf87 EXON Nonsense_E499X rs4915847 1 60461958 [T/G] NM_152377 C1orf87 Silent exm64110 1 60463283 [A/G] NM_152377 C1orf87 EXON Missense_T493I exm64113 1 60463343 [A/G] NM_152377 C1orf87 EXON Missense_T473M variant.3859 1 60476126 [T/C] NM_152377 C1orf87 EXON Nonsense_W377X rs657373 1 60484684 [T/G] NM_152377 C1orf87 Silent indel.3860 1 60491130 [I/D] NM_152377 C1orf87 EXON rs642294 1 60494956 [A/C] NM_152377 C1orf87 Silent 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 var_1_60499314 1 60499314 [T/C] NM_152377 C1orf87 Silent rs17120030 1 60502624 [A/G] NM_152377 C1orf87 Silent variant.3863 1 60503663 [T/C] NM_152377 C1orf87 Silent indel.3864 1 60503685 [D/I] NM_152377 C1orf87 EXON 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 rs10493277 1 60506744 [A/G] NM_152377 C1orf87 EXON Synonymous_S134S 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 rs640639 1 60529363 [T/G] NM_152377 C1orf87 Silent rs17120097 1 60543334 [A/C] rs675310 1 60543950 [T/G] rs685952 1 60547426 [A/G] rs677574 1 60575925 [T/C] exm2264843 1 60579518 [A/G] rs6677345 1 60581154 [T/C] rs665062 1 60585522 [A/G] rs645024 1 60597914 [A/G] rs680811 1 60599251 [T/G] rs6686672 1 60605603 [A/G] rs583614 1 60607633 [T/G] rs922356 1 60631000 [A/G] rs6587877 1 60659543 [T/C] rs10443220 1 60659719 [T/C] rs6661520 1 60666641 [T/G] rs1381888 1 60667904 [A/G] rs17120400 1 60691588 [A/G] rs10515373 1 60701724 [T/G] rs3906402 1 60702323 [T/C] rs7535541 1 60704278 [A/C] rs6662682 1 60730938 [A/G] rs4259695 1 60758915 [A/G] rs4147294 1 60762564 [A/G] rs454776 1 60794707 [T/C] rs1501246 1 60828648 [A/G] rs2937308 1 60832948 [A/G] rs298142 1 60833726 [A/G] rs298147 1 60838146 [T/C] rs298128 1 60848538 [A/G] rs3013544 1 60852092 [A/C] rs298155 1 60874772 [A/C] rs7529292 1 60876146 [T/C] rs657300 1 60876186 [A/G] rs11207605 1 60887538 [A/G] rs10493287 1 60888482 [T/G] rs11207606 1 60891642 [A/C] rs1501228 1 60907460 [T/G] rs10493283 1 60915699 [T/C] rs4915693 1 60927512 [A/G] rs4644526 1 60939827 [A/G] rs12404114 1 60944959 [A/C] rs4075690 1 60952106 [T/C] rs7355119 1 60966964 [T/C] rs11806181 1 60975097 [T/G] rs7522454 1 60983620 [A/G] rs7412958 1 60983782 [A/G] rs6587887 1 61009286 [T/C] rs7522761 1 61014021 [A/G] rs1461356 1 61037015 [A/G] rs12565755 1 61041875 [T/C] rs10493290 1 61042865 [T/C] exm-rs2989476 1 61059259 [G/C] rs3896178 1 61061996 [A/G] rs484743 1 61062474 [A/G] rs814197 1 61092456 [T/G] exm-rs472913 1 61095558 [C/G] rs7551820 1 61098227 [A/G] rs496946 1 61099717 [A/G] rs497005 1 61111774 [T/C] rs473368 1 61121928 [A/C] rs4916077 1 61129046 [A/G] rs4915699 1 61133462 [A/G] rs10493291 1 61137283 [A/G] rs547637 1 61145215 [T/C] rs1461353 1 61157162 [A/C] rs1381170 1 61162222 [A/G] rs10493294 1 61170724 [A/G] rs12045994 1 61192181 [T/C] rs13376444 1 61193225 [T/C] rs1022265 1 61196715 [A/G] rs1563954 1 61202901 [A/C] rs1514178 1 61205469 [T/C] exm2268697 1 61229363 [T/G] rs10889198 1 61229925 [T/C] rs310166 1 61231047 [T/G] rs310170 1 61233723 [T/C] rs6676070 1 61234270 [A/G] rs425181 1 61235684 [T/C] rs6650097 1 61264342 [A/G] rs647554 1 61274442 [T/G] rs12759959 1 61280352 [A/G] exm-rs1877734 1 61282089 [A/G] rs12059652 1 61287929 [A/G] rs648787 1 61296240 [A/G] rs11808039 1 61303553 [A/G] rs7513184 1 61311939 [T/G] rs788040 1 61313338 [T/C] rs6587905 1 61321009 [T/C] rs6657429 1 61332973 [T/C] rs7532404 1 61335153 [A/G] rs310172 1 61337290 [T/C] rs1447184 1 61355010 [A/G] rs1002005 1 61360179 [T/C] rs662495 1 61377516 [A/G] rs17121250 1 61380205 [T/G] rs4915717 1 61383717 [A/G] rs12062121 1 61384107 [T/C] rs1414277 1 61409064 [T/C] rs17121331 1 61412131 [T/G] rs2361817 1 61423517 [A/G] rs12038942 1 61435075 [T/C] exm2260512 1 61442276 [A/G] rs12047847 1 61444568 [A/G] rs1032622 1 61447172 [A/C] rs12140465 1 61449494 [T/C] rs10458567 1 61454166 [T/G] rs10889204 1 61454885 [A/G] rs12028122 1 61463426 [A/G] exm2252445 1 61465289 [A/G] rs1498109 1 61476762 [T/C] rs1419336 1 61477603 [T/C] rs1777533 1 61493285 [A/G] rs7550247 1 61504490 [A/G] rs12565220 1 61522880 [T/C] 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 rs964091 1 61567939 [A/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs10493302 1 61571392 [T/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs17121624 1 61584195 [T/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs334701 1 61619056 [T/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs334711 1 61625310 [T/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs168022 1 61629453 [A/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs914735 1 61646425 [T/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12091215 1 61647103 [A/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12126115 1 61659786 [A/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12118221 1 61671468 [A/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs332819 1 61678557 [T/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs333146 1 61681500 [A/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs6684051 1 61731440 [A/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs7544358 1 61733856 [A/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs437021 1 61738270 [T/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12562645 1 61743478 [A/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2243874 1 61757024 [A/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs1414265 1 61762362 [T/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2363876 1 61776742 [T/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2806440 1 61786398 [A/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent exm-rs6691768 1 61791863 [A/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 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 rs9436636 1 61812773 [A/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2180200 1 61826395 [T/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs1125777 1 61831890 [T/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs12568010 1 61831938 [A/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs10489911 1 61838509 [T/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs11581697 1 61861024 [T/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2474382 1 61869118 [T/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2092867 1 61877445 [A/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs2474373 1 61880714 [A/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs11207738 1 61890465 [T/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs6587924 1 61895257 [A/C] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent rs1884367 1 61902907 [A/G] NM_001145511,NM_001145512,NM_001134673,NM_005595 NFIA,NFIA,NFIA,NFIA Silent,Silent,Silent,Silent 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 rs9436212 1 61931351 [A/G] rs7540743 1 61945181 [T/G] rs4915745 1 61947516 [T/G] rs4915746 1 61952574 [A/G] exm-rs4915746 1 61952574 [A/G] rs3890764 1 61961953 [A/G] rs6682077 1 61966582 [A/C] exm2252477 1 61987970 [T/C] rs2246514 1 61987970 [T/C] rs1890265 1 61998177 [T/G] rs1933301 1 62002888 [A/G] rs7541526 1 62003946 [A/G] rs2365259 1 62034999 [A/C] rs1933323 1 62050490 [T/G] rs12143476 1 62059647 [T/C] rs2365269 1 62060213 [A/G] rs10889240 1 62064170 [A/G] rs2029857 1 62068302 [T/C] rs7519218 1 62068999 [A/G] rs17122491 1 62071712 [T/C] rs12068634 1 62080228 [T/C] rs6675169 1 62082312 [A/G] rs7530003 1 62082800 [A/G] rs12409500 1 62085876 [T/C] rs1933293 1 62089261 [T/C] rs12139976 1 62102307 [A/G] rs10889245 1 62103029 [A/G] rs10889249 1 62119809 [T/C] rs6700526 1 62121303 [T/C] NR_073400 MGC34796 EXON Silent rs4915770 1 62124388 [A/G] rs11207801 1 62126262 [A/G] rs6587943 1 62129132 [A/G] rs11207804 1 62134264 [T/C] rs1390450 1 62140388 [A/G] rs11207808 1 62146438 [A/G] rs11207811 1 62165212 [A/C] NM_032027 TM2D1 Silent variant.3866 1 62166605 [A/C] NM_032027 TM2D1 Silent exm64294 1 62190717 [C/G] NM_032027 TM2D1 EXON Missense_V26L exm64298 1 62190770 [T/C] NM_032027 TM2D1 EXON Missense_G8D rs12408292 1 62212822 [T/C] NM_176877 INADL Silent rs11807037 1 62225073 [T/C] NM_176877 INADL Silent 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 indel.3867 1 62235088 [D/I] NM_176877 INADL EXON exm64341 1 62237224 [T/A] NM_176877 INADL EXON Missense_I216F rs1954436 1 62248195 [T/C] NM_176877 INADL Silent 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 rs7516332 1 62261168 [A/G] NM_176877 INADL EXON Missense_I400V exm64376 1 62261214 [A/G] NM_176877 INADL EXON Missense_N415S indel.3871 1 62261229 [I/D] NM_176877 INADL EXON exm64381 1 62263049 [A/C] NM_176877 INADL EXON Synonymous_R451R rs4915778 1 62263416 [A/C] NM_176877 INADL Silent exm64387 1 62267321 [T/C] NM_176877 INADL EXON Missense_P477S exm64389 1 62267355 [A/G] NM_176877 INADL EXON Missense_E488G rs1286831 1 62271962 [A/G] NM_176877 INADL Silent exm64399 1 62288689 [A/G] NM_176877 INADL EXON Missense_I586V exm64400 1 62288730 [C/G] NM_176877 INADL EXON Missense_Q599H variant.3873 1 62288752 [A/G] NM_176877 INADL Silent 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 rs1572670 1 62306819 [A/G] NM_176877 INADL Silent 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 rs6698337 1 62337807 [A/G] NM_176877 INADL Silent rs10889262 1 62344107 [T/C] NM_176877 INADL Silent exm1852006 1 62350016 [C/G] NM_176877 INADL EXON Missense_R1023G rs9326052 1 62356590 [A/G] NM_176877 INADL Silent rs10889266 1 62357771 [A/G] NM_176877 INADL Silent rs2498997 1 62363350 [T/C] NM_176877 INADL Silent exm64469 1 62365276 [A/C] NM_176877 INADL EXON Missense_E1051D rs2499002 1 62366878 [T/G] NM_176877 INADL Silent exm64472 1 62366977 [A/G] NM_176877 INADL EXON Missense_N1076S exm2233670 1 62367097 [T/C] NM_176877 INADL EXON Missense_T1116M variant.3876 1 62374152 [T/C] NM_176877 INADL EXON Nonsense_R1164X exm64480 1 62374153 [A/G] NM_176877 INADL EXON Missense_R1164Q rs1332636 1 62375977 [A/G] NM_176877 INADL Silent exm64483 1 62380262 [A/G] NM_176877 INADL EXON Missense_I1166V exm64488 1 62380298 [A/G] NM_176877 INADL EXON Missense_G1178S var_1_62380337 1 62380337 [A/G] NM_176877 INADL Silent rs4915790 1 62392494 [A/G] NM_176877 INADL Silent exm64493 1 62393420 [T/C] NM_176877 INADL EXON Missense_P1197S variant.3878 1 62393501 [A/C] NM_176877 INADL EXON Missense_Q1224K variant.3879 1 62393502 [A/G] NM_176877 INADL Silent rs10889271 1 62400487 [T/C] NM_176877 INADL Silent rs11807297 1 62405873 [T/C] NM_176877 INADL Silent rs11585194 1 62422442 [A/G] NM_176877 INADL Silent rs2498968 1 62435141 [A/G] NM_176877 INADL Silent rs7545272 1 62448245 [A/G] NM_176877 INADL Silent var_1_62455839 1 62455839 [T/G] NM_176877 INADL Silent indel.3881 1 62455852 [I/D] NM_176877 INADL EXON variant.3882 1 62455875 [T/G] NM_176877 INADL EXON Nonsense_E1236X 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 rs10493316 1 62458463 [A/G] NM_176877 INADL Silent rs7526836 1 62468855 [T/C] NM_176877 INADL Silent rs1888984 1 62473982 [T/C] NM_176877 INADL Silent rs2183995 1 62479403 [A/G] NM_176877 INADL Silent exm64560 1 62483586 [T/C] NM_176877 INADL EXON Missense_T1309I rs6697273 1 62486381 [T/G] NM_176877 INADL Silent rs1332630 1 62492215 [T/G] NM_176877 INADL Silent rs1332631 1 62496360 [T/C] NM_176877 INADL Silent rs11585888 1 62499673 [A/G] NM_176877 INADL Silent rs7520924 1 62500555 [T/C] NM_176877 INADL Silent rs4072372 1 62505421 [A/G] NM_176877 INADL Silent rs13374203 1 62511933 [A/G] NM_176877 INADL Silent exm1852739 1 62516657 [T/C] NM_176877 INADL EXON Missense_P1351L exm64568 1 62516683 [G/C] NM_176877 INADL EXON Missense_V1360L rs6674622 1 62534938 [T/C] NM_176877 INADL Silent exm64572 1 62550192 [T/G] NM_176877 INADL EXON Missense_F1417V exm64573 1 62550219 [A/G] NM_176877 INADL EXON Missense_A1426T rs17123057 1 62555219 [A/G] NM_176877 INADL Silent rs10127438 1 62560928 [T/C] NM_176877 INADL Silent variant.3885 1 62566081 [A/G] NM_176877 INADL Silent exm1852889 1 62574133 [T/C] NM_176877 INADL EXON Missense_Y1468H exm1852890 1 62574193 [A/G] NM_176877 INADL Silent rs2476188 1 62575427 [A/G] NM_176877 INADL Silent rs6688017 1 62575911 [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 rs12044746 1 62580201 [A/G] NM_176877 INADL Silent exm64607 1 62582212 [A/G] NM_176877 INADL EXON Missense_S1555N exm64608 1 62582235 [A/G] NM_176877 INADL EXON Missense_V1563M var_1_62582274 1 62582274 [T/C] NM_176877 INADL EXON Nonsense_Q1576X exm64617 1 62582847 [G/C] NM_176877 INADL EXON Missense_A1616G indel.3890 1 62586958 [I/D] NM_176877 INADL EXON variant.3891 1 62588732 [T/C] NM_176877 INADL Silent 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 rs6680526 1 62603544 [T/C] NM_176877 INADL Silent rs2476197 1 62606693 [T/C] NM_176877 INADL Silent rs11207909 1 62607786 [A/G] 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 rs2666494 1 62614453 [A/G] NM_176877 INADL Silent rs2481677 1 62632571 [A/G] rs2666504 1 62635081 [T/C] rs2457832 1 62635116 [T/C] rs2260697 1 62638306 [A/C] rs12116810 1 62657530 [T/G] exm64661 1 62672381 [A/T] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_R27S,Missense_R27S exm64663 1 62672415 [T/C] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_P39S,Missense_P39S indel.3900 1 62672472 [I/D] NM_019079,NM_001164835 L1TD1,L1TD1 EXON exm64667 1 62672481 [A/G] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_I61V,Missense_I61V rs2457829 1 62672546 [A/G] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Synonymous_G82G,Synonymous_G82G indel.3901 1 62672566 [D/I] NM_019079,NM_001164835 L1TD1,L1TD1 EXON variant.3903 1 62672751 [T/G] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Nonsense_E151X,Nonsense_E151X variant.3904 1 62672796 [T/C] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Nonsense_R166X,Nonsense_R166X exm64681 1 62672812 [T/C] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_M171T,Missense_M171T exm64685 1 62672889 [A/G] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_R197G,Missense_R197G rs7542665 1 62673037 [T/C] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_V246A,Missense_V246A exm64693 1 62673126 [T/C] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_F276L,Missense_F276L exm64696 1 62673287 [A/C] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_K329N,Missense_K329N rs12729017 1 62674507 [T/C] NM_019079,NM_001164835 L1TD1,L1TD1 Silent,Silent rs11207932 1 62674547 [T/G] NM_019079,NM_001164835 L1TD1,L1TD1 Silent,Silent exm64701 1 62675539 [A/G] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_V365I,Missense_V365I exm2275456 1 62675667 [T/G] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_E407D,Missense_E407D exm64715 1 62675673 [T/G] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_E409D,Missense_E409D exm64716 1 62675674 [A/C] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_P410T,Missense_P410T exm64726 1 62675798 [T/C] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_L451S,Missense_L451S indel.3910 1 62675808 [I/D] NM_019079,NM_001164835 L1TD1,L1TD1 EXON exm2252524 1 62675892 [A/G] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Synonymous_E482E,Synonymous_E482E exm64733 1 62675894 [A/G] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_E483G,Missense_E483G exm64736 1 62675945 [A/G] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_K500R,Missense_K500R indel.3911 1 62675967 [D/I] NM_019079,NM_001164835 L1TD1,L1TD1 EXON exm64741 1 62676091 [A/C] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_P549T,Missense_P549T exm64744 1 62676188 [C/G] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_T581R,Missense_T581R exm64746 1 62676205 [A/C] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_K587Q,Missense_K587Q indel.3912 1 62676225 [D/I] NM_019079,NM_001164835 L1TD1,L1TD1 EXON var_1_62676247 1 62676248 [I/D] NM_019079,NM_001164835 L1TD1,L1TD1 EXON exm64748 1 62676284 [T/C] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_T613I,Missense_T613I exm64749 1 62676329 [T/G] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_I628R,Missense_I628R indel.3916 1 62676617 [I/D] NM_019079,NM_001164835 L1TD1,L1TD1 EXON exm64761 1 62676688 [A/G] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_S748G,Missense_S748G newrs140559126 1 62676866 [A/G] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Nonsense_W807X,Nonsense_W807X indel.3918 1 62676946 [D/I] NM_019079,NM_001164835 L1TD1,L1TD1 EXON exm64768 1 62676970 [A/G] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Missense_S842G,Missense_S842G rs12137401 1 62677050 [T/C] NM_019079,NM_001164835 L1TD1,L1TD1 EXON Silent,Silent rs4019803 1 62687104 [A/G] rs6683592 1 62692092 [A/G] rs1050334 1 62703236 [A/C] NM_181712 KANK4 EXON Silent 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 rs11207944 1 62707613 [T/C] NM_181712 KANK4 Silent rs6664672 1 62711941 [A/G] NM_181712 KANK4 Silent exm64790 1 62713164 [T/C] NM_181712 KANK4 EXON Missense_D955N exm64796 1 62713224 [C/G] NM_181712 KANK4 EXON Missense_V935L rs12122645 1 62714918 [A/G] NM_181712 KANK4 Silent rs2457809 1 62716323 [A/G] NM_181712 KANK4 Silent 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 rs12062559 1 62724753 [A/G] NM_181712 KANK4 Silent rs2765241 1 62727596 [T/C] NM_181712 KANK4 Silent 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 rs2262110 1 62728918 [A/G] NM_181712 KANK4 EXON Synonymous_P795P exm1853100 1 62732409 [A/G] NM_181712 KANK4 EXON Missense_L772F exm64827 1 62732421 [T/C] NM_181712 KANK4 EXON Missense_T768A rs11207949 1 62732421 [T/C] NM_181712 KANK4 EXON Missense_T768A rs11579934 1 62732945 [A/G] NM_181712 KANK4 Silent var_1_62733957 1 62733958 [D/I] NM_181712 KANK4 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 rs2666508 1 62740930 [A/G] NM_181712 KANK4 Silent rs12138544 1 62743398 [T/C] NM_181712 KANK4 Silent rs2765255 1 62753383 [A/G] NM_181712 KANK4 Silent rs4915811 1 62758183 [T/C] NM_181712 KANK4 Silent rs12082238 1 62760625 [T/C] NM_181712 KANK4 Silent rs1886834 1 62765049 [T/C] NM_181712 KANK4 Silent rs12037499 1 62767953 [A/G] NM_181712 KANK4 Silent rs4915818 1 62788511 [T/C] rs2366210 1 62791745 [A/G] rs6690755 1 62803211 [T/C] rs3861941 1 62824790 [T/C] rs12042483 1 62833738 [A/G] rs6587971 1 62836976 [T/C] rs3949904 1 62848090 [A/G] rs1413821 1 62866390 [T/C] rs4439380 1 62866854 [A/G] rs10889328 1 62867790 [T/G] rs635897 1 62896419 [A/C] rs10493324 1 62898142 [T/C] exm64965 1 62905542 [T/C] NM_001017416,NM_001017415,NM_003368 USP1,USP1,USP1 EXON Missense_P2S,Missense_P2S,Missense_P2S exm64979 1 62907214 [A/G] NM_001017416,NM_001017415,NM_003368 USP1,USP1,USP1 EXON Missense_N76D,Missense_N76D,Missense_N76D exm64986 1 62908939 [A/G] NM_001017416,NM_001017415,NM_003368 USP1,USP1,USP1 EXON Missense_K169R,Missense_K169R,Missense_K169R exm2233685 1 62910612 [T/G] NM_001017416,NM_001017415,NM_003368 USP1,USP1,USP1 EXON Missense_M254R,Missense_M254R,Missense_M254R exm65006 1 62910943 [C/G] NM_001017416,NM_001017415,NM_003368 USP1,USP1,USP1 EXON Missense_N364K,Missense_N364K,Missense_N364K exm65007 1 62910957 [G/C] NM_001017416,NM_001017415,NM_003368 USP1,USP1,USP1 EXON Missense_G369A,Missense_G369A,Missense_G369A exm65010 1 62910981 [T/A] NM_001017416,NM_001017415,NM_003368 USP1,USP1,USP1 EXON Missense_D377V,Missense_D377V,Missense_D377V exm65013 1 62911046 [T/C] NM_001017416,NM_001017415,NM_003368 USP1,USP1,USP1 EXON Missense_P399S,Missense_P399S,Missense_P399S exm65018 1 62914153 [A/G] NM_001017416,NM_001017415,NM_003368 USP1,USP1,USP1 EXON Missense_T480A,Missense_T480A,Missense_T480A exm65023 1 62915972 [G/C] NM_001017416,NM_001017415,NM_003368 USP1,USP1,USP1 EXON Missense_L560V,Missense_L560V,Missense_L560V indel.3927 1 62916094 [I/D] NM_001017416,NM_001017415,NM_003368 USP1,USP1,USP1 EXON exm65031 1 62916290 [A/G] NM_001017416,NM_001017415,NM_003368 USP1,USP1,USP1 EXON Missense_I666V,Missense_I666V,Missense_I666V exm1854373 1 62916503 [A/G] NM_001017416,NM_001017415,NM_003368 USP1,USP1,USP1 EXON Missense_V737M,Missense_V737M,Missense_V737M 1KG_1_62921149 1 62921149 [D/I] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 indel.3930 1 62921154 [I/D] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 rs3913007 1 62921586 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent exm65053 1 62923219 [T/G] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_T2082P,Missense_T2093P,Missense_T2084P,Missense_T2113P exm-rs1167998 1 62931632 [A/C] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent exm65097 1 62953070 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 EXON Silent,Missense_E1805G,Missense_E1796G,Silent exm65118 1 62962089 [T/A] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_F1575Y,Missense_F1584Y,Missense_F1575Y,Missense_F1606Y rs1168029 1 62969402 [A/G] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent exm65125 1 62970369 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_G1526S,Missense_G1535S,Missense_G1526S,Missense_G1557S variant.3931 1 62979137 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 EXON Silent,Synonymous_T1389T,Silent,Silent rs10889337 1 62980607 [A/G] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent exm65153 1 62993823 [A/G] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_T1281M,Missense_T1281M,Missense_T1281M,Missense_T1312M exm65188 1 63009368 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_S939G,Missense_S939G,Missense_S939G,Missense_S970G exm65198 1 63018549 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_V874M,Missense_V874M,Missense_V874M,Missense_V874M exm65200 1 63018564 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_G869S,Missense_G869S,Missense_G869S,Missense_G869S rs10159255 1 63020816 [A/C] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent exm65202 1 63021514 [T/G] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_P860T,Missense_P860T,Missense_P860T,Missense_P860T exm65208 1 63021621 [A/G] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_I824T,Missense_I824T,Missense_I824T,Missense_I824T exm-rs2131925 1 63025942 [T/G] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent exm65230 1 63043025 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_M674V,Missense_M674V,Missense_M674V,Missense_M674V indel.3936 1 63044586 [I/D] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 EXON exm-rs1748195 1 63049593 [C/G] NM_001272001,NM_033407,NM_001272000,NM_001271999 DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent exm65235 1 63052178 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Synonymous_P600P,Synonymous_P600P,Synonymous_P600P,Synonymous_P600P,Synonymous_P600P exm65238 1 63052222 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_K586E,Missense_K586E,Missense_K586E,Missense_K586E,Missense_K586E rs12048208 1 63055280 [A/G] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent rs17123721 1 63061242 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent newrs139334976 1 63063509 [A/G] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_E91G 1KG_1_63063592 1 63063593 [D/I] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON exm65257 1 63063616 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_L127F exm65259 1 63063688 [A/G] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_N151D exm65261 1 63064415 [A/G] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_V182M exm2273653 1 63064458 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_I196T exm65273 1 63067475 [T/G] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_G253C exm65274 1 63067484 [A/G] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_T256A exm1855540 1 63067494 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_M259T exm65276 1 63067994 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_S292P exm65277 1 63069703 [A/G] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_R332Q exm65281 1 63069736 [A/G] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Missense_H343R variant.3946 1 63069749 [T/G] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Nonsense_Y347X variant.3947 1 63069904 [A/C] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Nonsense_S399X variant.3948 1 63070316 [A/G] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002,NM_014495 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7,ANGPTL3 EXON Silent,Silent,Silent,Silent,Silent,Nonsense_W404X rs10789117 1 63072265 [A/C] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent rs2031373 1 63083289 [A/C] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm65306 1 63084474 [A/G] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_L529F,Missense_L529F,Missense_L529F,Missense_L529F,Missense_L529F exm65311 1 63085630 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_K487R,Missense_K487R,Missense_K487R,Missense_K487R,Missense_K487R variant.3951 1 63085665 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm65326 1 63096928 [A/G] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_V422A,Missense_V422A,Missense_V422A,Missense_V422A,Missense_V422A exm65345 1 63113853 [A/G] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_I219T,Missense_I219T,Missense_I219T,Missense_I219T,Missense_I219T exm65347 1 63113968 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999,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_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent exm2233691 1 63119791 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_D62N,Missense_D62N,Missense_D62N,Missense_D62N,Missense_D62N exm65360 1 63128715 [T/C] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 EXON Missense_N42S,Missense_N42S,Missense_N42S,Missense_N42S,Missense_N42S rs4587594 1 63133930 [A/G] NM_001272001,NM_033407,NM_001272000,NM_001271999,NM_001272002 DOCK7,DOCK7,DOCK7,DOCK7,DOCK7 Silent,Silent,Silent,Silent,Silent rs4915853 1 63191577 [A/C] exm-rs12130333 1 63191777 [T/C] rs4630152 1 63199272 [T/C] exm2260537 1 63201577 [A/G] rs6663281 1 63221191 [T/C] rs11807368 1 63231401 [T/G] rs17123830 1 63248080 [A/G] rs6587988 1 63252766 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent indel.3952 1 63269478 [D/I] NM_032852,NM_178221 ATG4C,ATG4C EXON exm65374 1 63270864 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_T33M,Missense_T33M exm65375 1 63270896 [A/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_L44I,Missense_L44I exm65382 1 63282309 [A/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_N75S,Missense_N75S exm65384 1 63282324 [A/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_R80H,Missense_R80H indel.3957 1 63282435 [I/D] NM_032852,NM_178221 ATG4C,ATG4C EXON exm65394 1 63282474 [A/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_G130D,Missense_G130D rs7539616 1 63283005 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent exm65395 1 63284676 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_A132V,Missense_A132V newrs34243881 1 63284886 [I/D] NM_032852,NM_178221 ATG4C,ATG4C EXON 1KG_1_63299729 1 63299729 [D/I] NM_032852,NM_178221 ATG4C,ATG4C EXON var_1_63299729 1 63299730 [D/I] NM_032852,NM_178221 ATG4C,ATG4C EXON indel.3964 1 63300483 [I/D] NM_032852,NM_178221 ATG4C,ATG4C EXON rs10493327 1 63303845 [T/C] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent exm65423 1 63307121 [A/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_K371R,Missense_K371R exm65426 1 63307174 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Nonsense_R389X,Nonsense_R389X newrs142574206 1 63307174 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Nonsense_R389X,Nonsense_R389X variant.3966 1 63307195 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Nonsense_R396X,Nonsense_R396X rs11208047 1 63311836 [A/G] NM_032852,NM_178221 ATG4C,ATG4C Silent,Silent exm65432 1 63329777 [T/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_D442Y,Missense_D442Y exm65434 1 63329784 [A/G] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_K444R,Missense_K444R exm65435 1 63329789 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Nonsense_Q446X,Nonsense_Q446X exm65436 1 63329808 [T/C] NM_032852,NM_178221 ATG4C,ATG4C EXON Missense_T452M,Missense_T452M rs11208050 1 63336271 [T/C] exm2264846 1 63346976 [A/G] rs12751505 1 63361221 [T/C] rs17124052 1 63396116 [T/C] rs12024707 1 63396290 [A/G] rs12134779 1 63396342 [T/C] rs7532163 1 63401945 [T/C] rs2780881 1 63405189 [A/C] rs2065585 1 63414401 [A/G] rs1333731 1 63417567 [T/C] rs6662502 1 63446754 [T/G] rs6683386 1 63452363 [T/C] rs6696216 1 63452419 [T/C] rs4915629 1 63457362 [T/G] rs2150030 1 63470519 [T/C] rs4915864 1 63475829 [T/C] rs12021818 1 63476135 [A/C] rs7541201 1 63478358 [A/G] exm-rs17124318 1 63480730 [C/G] rs713311 1 63486692 [T/C] rs4915866 1 63488228 [T/G] exm2268699 1 63493164 [T/G] rs1330221 1 63495975 [T/C] rs12091913 1 63496207 [A/G] rs6694848 1 63503606 [A/G] rs1874930 1 63507395 [A/C] rs1027520 1 63513116 [A/G] rs1391813 1 63517581 [A/G] rs6695800 1 63521348 [A/C] rs17318082 1 63532307 [A/C] rs953654 1 63549282 [T/C] rs10889402 1 63550500 [T/G] rs1498934 1 63561813 [A/G] rs1391819 1 63570551 [A/G] rs11208131 1 63578064 [A/C] rs1498930 1 63580025 [A/G] exm-rs7526034 1 63586973 [T/G] rs924337 1 63590222 [T/C] exm-rs10493340 1 63591129 [A/G] rs1556201 1 63596457 [T/C] rs7535047 1 63619559 [T/C] rs1353799 1 63621743 [T/C] rs11208143 1 63632518 [A/G] NR_038252 LINC00466 Silent rs10493341 1 63632591 [T/G] NR_038252 LINC00466 Silent rs4915880 1 63637911 [T/C] NR_038252 LINC00466 Silent rs6588015 1 63638714 [A/G] NR_038252 LINC00466 Silent rs11208148 1 63645215 [A/C] NR_038252 LINC00466 Silent rs7515650 1 63650851 [A/C] NR_038252 LINC00466 Silent rs4253945 1 63655914 [T/C] NR_038252 LINC00466 Silent rs4915639 1 63658137 [A/G] NR_038252 LINC00466 Silent rs6693289 1 63668754 [A/G] NR_038252 LINC00466 Silent rs7514965 1 63674545 [T/G] NR_038252 LINC00466 Silent rs6675635 1 63684460 [T/G] NR_038252 LINC00466 Silent rs7552970 1 63688381 [A/G] NR_038252 LINC00466 Silent rs11208174 1 63694103 [T/G] NR_038252 LINC00466 Silent rs997791 1 63694517 [A/G] NR_038252 LINC00466 Silent rs6661668 1 63696679 [A/G] NR_038252 LINC00466 Silent rs7554136 1 63727240 [T/G] NR_038252 LINC00466 Silent rs10493344 1 63734114 [A/C] NR_038252 LINC00466 Silent rs4915891 1 63753736 [T/C] NR_038252 LINC00466 Silent rs11208184 1 63774201 [A/G] NR_038252 LINC00466 Silent rs2367270 1 63775056 [A/C] NR_038252 LINC00466 Silent rs6666222 1 63780407 [T/C] NR_038252 LINC00466 Silent exm65444 1 63788776 [T/C] NM_012183 FOXD3 EXON Missense_T16M rs6675284 1 63818393 [T/C] rs12407262 1 63820276 [A/G] rs7522426 1 63821329 [A/G] rs12119056 1 63832640 [A/C] variant.3970 1 63836700 [T/C] NM_013339 ALG6 EXON Nonsense_R18X rs4915899 1 63844736 [T/C] NM_013339 ALG6 Silent rs4515822 1 63855501 [A/G] NM_013339 ALG6 Silent variant.3972 1 63870204 [A/G] NM_013339 ALG6 EXON Missense_R113H rs2273122 1 63871758 [T/C] NM_013339 ALG6 Silent rs1012872 1 63871881 [A/G] NM_013339 ALG6 Silent exm65513 1 63872032 [T/C] NM_013339 ALG6 EXON Missense_Y131H variant.3974 1 63872071 [T/G] NM_013339 ALG6 Silent variant.3975 1 63872785 [A/G] NM_013339 ALG6 EXON Missense_Y161C rs6588028 1 63872871 [A/G] NM_013339 ALG6 Silent 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 newrs121908443 1 63885051 [T/C] NM_013339 ALG6 EXON Missense_A333V rs12023577 1 63902431 [A/G] NM_013339 ALG6 Silent exm65556 1 63902524 [C/G] NM_013339 ALG6 EXON Missense_L453V indel.3980 1 63902554 [D/I] NM_013339 ALG6 EXON 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 rs6671446 1 63908980 [T/C] NM_001206739,NR_045147,NM_014288 ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent rs6588031 1 63918079 [T/C] NM_001206739,NR_045147,NM_014288 ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent rs1057815 1 63918388 [T/C] NM_001206739,NR_045147,NM_014288 ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent 1KG_1_63920634 1 63920634 [I/D] NM_001206739,NR_045147,NM_014288 ITGB3BP,ITGB3BP,ITGB3BP EXON exm65582 1 63920635 [T/C] NM_001206739,NR_045147,NM_014288 ITGB3BP,ITGB3BP,ITGB3BP EXON Missense_M126V,Silent,Missense_M87V rs6588043 1 63956190 [T/C] NM_001206739,NR_045147,NM_014288 ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent rs11801609 1 63963086 [T/C] NM_001206739,NR_045147,NM_014288 ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent exm65593 1 63974241 [A/G] NM_001206739,NR_045147,NM_014288 ITGB3BP,ITGB3BP,ITGB3BP EXON Synonymous_S41S,Silent,Synonymous_P2P rs7418918 1 63977715 [A/G] NM_001206739,NR_045147,NM_014288 ITGB3BP,ITGB3BP,ITGB3BP Silent,Silent,Silent rs217478 1 63991267 [T/C] NM_032437 EFCAB7 EXON Synonymous_D8D 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 indel.3992 1 63999794 [I/D] NM_032437 EFCAB7 EXON exm65639 1 63999826 [T/C] NM_032437 EFCAB7 EXON Missense_T248I exm65641 1 63999868 [T/C] NM_032437 EFCAB7 EXON Missense_M262T rs6657480 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 variant.3993 1 64017494 [T/C] NM_032437 EFCAB7 EXON Nonsense_R349X rs217483 1 64017830 [A/G] NM_032437 EFCAB7 Silent variant.3994 1 64021069 [A/G] NM_032437 EFCAB7 EXON Nonsense_W366X exm65652 1 64021096 [A/G] NM_032437 EFCAB7 EXON Missense_R375K variant.3995 1 64022894 [T/G] NM_032437 EFCAB7 EXON Nonsense_E442X exm65659 1 64027454 [C/G] NM_032437 EFCAB7 EXON Missense_R475G rs6696034 1 64030112 [A/G] NM_032437 EFCAB7 Silent 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 rs11800361 1 64046766 [T/G] rs17125166 1 64053755 [A/G] rs11208250 1 64056411 [A/C] exm65686 1 64059266 [A/C] NM_002633 PGM1 EXON Missense_A36E exm65690 1 64059403 [T/G] NM_002633 PGM1 EXON Missense_G82W rs2269266 1 64079677 [A/G] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent rs2301059 1 64086901 [A/G] NM_002633,NM_001172819 PGM1,PGM1 Silent,Silent indel.4001 1 64089357 [I/D] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON 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 rs2269252 1 64098065 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent variant.4003 1 64101908 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Nonsense_R293X,Nonsense_R96X,Nonsense_R311X rs2269248 1 64102114 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 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 rs2269240 1 64109264 [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 rs2269236 1 64118212 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent 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 var_1_64120142 1 64120142 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent rs6671606 1 64123868 [A/G] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 Silent,Silent,Silent exm65782 1 64125320 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Missense_R555C,Missense_R358C,Missense_R573C rs4643 1 64125439 [A/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Silent,Silent,Silent rs10909 1 64125544 [T/C] NM_002633,NM_001172819,NM_001172818 PGM1,PGM1,PGM1 EXON Silent,Silent,Silent exm-rs2749097 1 64127468 [G/C] rs1740402 1 64140572 [A/G] rs12127151 1 64149699 [T/G] rs2658399 1 64153652 [T/C] rs4915644 1 64159344 [A/G] rs17125348 1 64161699 [T/C] exm2252590 1 64165243 [A/C] rs2819157 1 64166213 [T/C] rs1506399 1 64173484 [A/C] rs937805 1 64173753 [A/C] rs2819159 1 64174386 [A/G] rs4915914 1 64177299 [A/G] rs1463942 1 64209711 [T/C] rs1701530 1 64217123 [T/C] rs17125501 1 64221188 [T/C] rs2819130 1 64231541 [A/G] rs659406 1 64256018 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1542805 1 64262269 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs640407 1 64267606 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs596985 1 64277035 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent exm2265015 1 64277035 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs685458 1 64295971 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs663458 1 64312919 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs2132161 1 64313498 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs649608 1 64313696 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs11208306 1 64320736 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs11208308 1 64340452 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs11802375 1 64341732 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs855845 1 64354536 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs855835 1 64357060 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs855823 1 64361960 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs705529 1 64381917 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs6671129 1 64394124 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs6660751 1 64412138 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs285339 1 64442169 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs285364 1 64459519 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs285370 1 64462582 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs285386 1 64470166 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent exm65789 1 64475021 [T/C] NM_005012,NM_001083592 ROR1,ROR1 EXON Missense_W46R,Missense_W46R rs834485 1 64484485 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1746927 1 64498297 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs705532 1 64508126 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent variant.4006 1 64516388 [T/C] NM_005012,NM_001083592 ROR1,ROR1 EXON Missense_S161L,Missense_S161L rs863087 1 64525961 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs6676244 1 64531564 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1772618 1 64540133 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs2360720 1 64542800 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs834343 1 64545124 [A/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs834350 1 64549091 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs6687610 1 64550630 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1619058 1 64551422 [A/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs7533927 1 64555255 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs2806541 1 64566396 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs7521771 1 64573067 [T/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs2806537 1 64579157 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs6677577 1 64579350 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs17357054 1 64582357 [T/C] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs1408417 1 64590697 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent rs7528814 1 64601845 [A/G] NM_005012,NM_001083592 ROR1,ROR1 Silent,Silent exm65825 1 64608204 [A/G] NM_005012,NM_001083592 ROR1,ROR1 EXON Missense_A349T,Missense_A349T exm65828 1 64608211 [A/G] NM_005012,NM_001083592 ROR1,ROR1 EXON Missense_R351H,Missense_R351H rs6588083 1 64614011 [T/C] NM_005012 ROR1 Silent exm2264847 1 64615775 [A/G] NM_005012 ROR1 Silent rs1535872 1 64615775 [A/G] NM_005012 ROR1 Silent rs4619008 1 64622069 [A/G] NM_005012 ROR1 Silent rs4565754 1 64624403 [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 rs7527017 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 rs11208377 1 64647608 [T/C] rs4266926 1 64658597 [A/G] rs34460133 1 64662030 [T/C] rs7518535 1 64663192 [A/G] rs7545208 1 64665046 [A/C] indel.4008 1 64669761 [I/D] NM_152489 UBE2U EXON indel.4009 1 64669795 [I/D] NM_152489 UBE2U EXON exm65904 1 64676452 [T/C] NM_152489 UBE2U EXON Missense_I90T var_1_64676467 1 64676468 [D/I] NM_152489 UBE2U EXON rs2806532 1 64677055 [A/G] NM_152489 UBE2U Silent exm65907 1 64680581 [A/C] NM_152489 UBE2U EXON Missense_R141S rs7526950 1 64684038 [T/C] NM_152489 UBE2U Silent variant.4012 1 64686540 [A/G] NM_152489 UBE2U Silent exm65911 1 64686577 [T/C] NM_152489 UBE2U EXON Missense_R165C rs17126246 1 64693901 [A/G] NM_152489 UBE2U Silent variant.4013 1 64698277 [A/C] NM_152489 UBE2U EXON Nonsense_Y180X variant.4014 1 64698303 [A/C] NM_152489 UBE2U EXON Nonsense_S189X rs2029868 1 64698411 [T/C] NM_152489 UBE2U Silent exm65916 1 64707395 [T/A] NM_152489 UBE2U EXON Missense_H219L rs10789152 1 64709891 [A/G] NM_152489 UBE2U EXON Silent rs705540 1 64725787 [A/G] rs11588217 1 64727239 [A/C] rs705551 1 64737015 [T/C] rs825241 1 64747636 [A/G] rs825239 1 64749809 [A/G] rs705559 1 64752871 [A/G] rs17126275 1 64753640 [A/G] rs12727354 1 64756763 [A/G] rs825213 1 64762226 [A/G] rs6683502 1 64762259 [A/C] rs6703725 1 64773787 [A/G] rs17126315 1 64775997 [T/C] rs957576 1 64784574 [T/C] rs11208420 1 64790514 [A/G] rs4915972 1 64791688 [T/C] rs1390475 1 64800809 [T/C] rs10889478 1 64804890 [T/C] rs1908635 1 64805503 [A/C] rs17126413 1 64806201 [T/C] rs11208433 1 64827193 [A/G] rs1514966 1 64834710 [A/G] rs11208437 1 64837143 [T/C] rs7523530 1 64837796 [A/G] rs7349133 1 64841469 [A/G] rs6695900 1 64862973 [T/C] rs11208446 1 64868352 [A/G] rs1155542 1 64871720 [T/C] rs11208448 1 64892397 [A/G] rs9988591 1 64894096 [T/C] rs305535 1 64914437 [A/C] rs12139788 1 64922435 [T/C] rs11208456 1 64923930 [T/C] rs305549 1 64925123 [A/G] rs7517824 1 64941609 [T/C] NM_020925 CACHD1 Silent rs305540 1 64951754 [A/G] NM_020925 CACHD1 Silent rs1932028 1 64974601 [T/C] NM_020925 CACHD1 Silent exm2260550 1 65000767 [T/C] NM_020925 CACHD1 Silent exm65930 1 65016278 [A/G] NM_020925 CACHD1 EXON Missense_R16Q rs12408795 1 65016681 [A/G] NM_020925 CACHD1 Silent rs6660732 1 65031000 [T/C] NM_020925 CACHD1 Silent rs11208467 1 65031202 [T/C] NM_020925 CACHD1 Silent exm65935 1 65047870 [A/G] NM_020925 CACHD1 EXON Missense_R47H rs12068675 1 65049950 [A/C] NM_020925 CACHD1 Silent exm65942 1 65068550 [A/G] NM_020925 CACHD1 EXON Missense_T107A variant.4017 1 65068580 [T/C] NM_020925 CACHD1 EXON Nonsense_R117X rs7533098 1 65074489 [A/C] NM_020925 CACHD1 Silent rs17126766 1 65079551 [A/G] NM_020925 CACHD1 Silent rs1436756 1 65089766 [A/G] NM_020925 CACHD1 Silent rs12022915 1 65093542 [A/G] NM_020925 CACHD1 Silent exm65959 1 65098362 [T/C] NM_020925 CACHD1 EXON Missense_T191I exm1860409 1 65099758 [A/G] NM_020925 CACHD1 EXON Missense_R223Q rs7552434 1 65103510 [A/G] NM_020925 CACHD1 Silent 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 rs12565594 1 65125167 [T/C] NM_020925 CACHD1 Silent 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 rs11208499 1 65135068 [A/C] NM_020925 CACHD1 Silent exm66050 1 65139130 [T/C] NM_020925 CACHD1 EXON Missense_F853L exm66052 1 65139146 [T/C] NM_020925 CACHD1 EXON Missense_A858V var_1_65139152 1 65139152 [A/G] NM_020925 CACHD1 Silent exm66063 1 65142603 [A/G] NM_020925 CACHD1 EXON Missense_E950K rs2499823 1 65143441 [A/G] NM_020925 CACHD1 Silent 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 rs12044266 1 65146290 [A/G] NM_020925 CACHD1 Silent rs3828064 1 65147002 [T/C] NM_020925 CACHD1 EXON Synonymous_H1105H 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 rs1926304 1 65161230 [T/G] rs11208512 1 65170405 [T/C] rs11799558 1 65180463 [T/G] exm2252617 1 65186794 [A/G] rs10493365 1 65190713 [T/C] rs2375473 1 65200056 [A/G] rs6676160 1 65221842 [A/G] NM_018211 RAVER2 Silent 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 rs11208527 1 65294331 [A/G] NM_018211 RAVER2 Silent rs1048007 1 65297240 [A/G] NM_018211 RAVER2 EXON Silent variant.4023 1 65300334 [A/G] NM_002227 JAK1 EXON Nonsense_Q1126X rs2780815 1 65301611 [T/G] NM_002227 JAK1 Silent 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 rs17127063 1 65312342 [A/G] NM_002227 JAK1 EXON Synonymous_R659R exm66228 1 65312368 [T/C] NM_002227 JAK1 EXON Missense_V651M rs310219 1 65315298 [T/C] NM_002227 JAK1 Silent 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 rs3790541 1 65341567 [T/C] NM_002227 JAK1 Silent rs310209 1 65345616 [A/C] NM_002227 JAK1 Silent exm66280 1 65348981 [T/C] NM_002227 JAK1 EXON Missense_I62V exm66282 1 65349065 [G/C] NM_002227 JAK1 EXON Missense_P34A rs310202 1 65349544 [A/G] NM_002227 JAK1 Silent exm-rs310199 1 65350122 [A/G] NM_002227 JAK1 Silent rs7529428 1 65356951 [T/C] NM_002227 JAK1 Silent rs12563017 1 65381861 [T/C] NM_002227 JAK1 Silent rs7539178 1 65383002 [A/C] NM_002227 JAK1 Silent rs10889503 1 65389835 [T/G] NM_002227 JAK1 Silent rs10889505 1 65390765 [T/C] NM_002227 JAK1 Silent rs7519042 1 65404215 [T/C] NM_002227 JAK1 Silent rs1353595 1 65405070 [A/C] NM_002227 JAK1 Silent rs17127168 1 65408513 [A/G] NM_002227 JAK1 Silent rs4916014 1 65421058 [A/G] NM_002227 JAK1 Silent rs4915675 1 65427476 [A/G] NM_002227 JAK1 Silent rs7545743 1 65439566 [A/G] rs555038 1 65472323 [A/G] rs535857 1 65492194 [A/G] rs3014974 1 65503789 [T/C] rs11208574 1 65508424 [A/G] rs11208576 1 65512968 [A/C] rs6588109 1 65516055 [C/G] rs6673673 1 65546924 [T/C] rs12023280 1 65552976 [A/G] rs2375675 1 65553193 [A/C] rs6699671 1 65557876 [A/C] rs17127323 1 65571312 [T/C] rs7524607 1 65573794 [A/G] rs10889520 1 65581487 [A/G] rs11208591 1 65583858 [A/G] rs12566370 1 65584570 [A/G] rs6696301 1 65586815 [A/G] rs17127359 1 65593407 [T/C] exm2260561 1 65608909 [A/G] rs2375754 1 65611633 [A/G] rs10789171 1 65619880 [A/G] NM_203464,NM_001005353,NM_013410 AK4,AK4,AK4 Silent,Silent,Silent rs12030227 1 65644186 [T/C] NM_203464,NM_001005353,NM_013410 AK4,AK4,AK4 Silent,Silent,Silent rs7549901 1 65653425 [T/C] NM_203464,NM_001005353,NM_013410 AK4,AK4,AK4 Silent,Silent,Silent rs6677316 1 65658412 [A/G] NM_203464,NM_001005353,NM_013410 AK4,AK4,AK4 Silent,Silent,Silent rs7526688 1 65674836 [A/G] NM_203464,NM_001005353,NM_013410 AK4,AK4,AK4 Silent,Silent,Silent exm2264849 1 65678454 [A/G] NM_203464,NM_001005353,NM_013410 AK4,AK4,AK4 Silent,Silent,Silent rs1889925 1 65687556 [A/G] NM_203464,NM_001005353,NM_013410 AK4,AK4,AK4 Silent,Silent,Silent rs10465850 1 65699203 [T/C] rs12032616 1 65703484 [A/G] rs7539419 1 65708834 [A/G] rs1889929 1 65710726 [A/G] rs11208616 1 65723851 [A/G] rs724685 1 65726516 [A/G] rs2477786 1 65732242 [T/C] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent rs1749972 1 65736258 [A/C] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent rs7511810 1 65753072 [A/G] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent rs2985902 1 65762640 [T/C] NM_014787,NM_001256865 DNAJC6,DNAJC6 Silent,Silent rs6677968 1 65776702 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs4147109 1 65782290 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs10493374 1 65783231 [T/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs1359533 1 65803765 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs7528114 1 65805144 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs2375699 1 65808281 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs1413885 1 65815659 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent variant.4026 1 65830473 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs7537733 1 65838229 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs6588140 1 65839065 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs10889546 1 65851759 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent exm66355 1 65852538 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_I290V,Missense_I277V,Missense_I347V exm66357 1 65852556 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_V296M,Missense_V283M,Missense_V353M exm66358 1 65852569 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_M300T,Missense_M287T,Missense_M357T exm66373 1 65855298 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_L429F,Missense_L416F,Missense_L486F exm66375 1 65858137 [A/T] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_C441S,Missense_C428S,Missense_C498S exm66379 1 65858222 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_N469S,Missense_N456S,Missense_N526S exm66388 1 65858360 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_A515V,Missense_A502V,Missense_A572V exm66389 1 65858368 [C/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_P518A,Missense_P505A,Missense_P575A exm66393 1 65858462 [A/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_H549P,Missense_H536P,Missense_H606P rs11208645 1 65861798 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent rs10889548 1 65864220 [T/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent exm66411 1 65864561 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_P645S,Missense_P632S,Missense_P702S exm66416 1 65867495 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_S663L,Missense_S650L,Missense_S720L exm66418 1 65867519 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_S671N,Missense_S658N,Missense_S728N rs4655762 1 65869274 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent exm66423 1 65871579 [T/A] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_T695S,Missense_T682S,Missense_T752S exm66431 1 65871793 [A/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_R766H,Missense_R753H,Missense_R823H exm66432 1 65871805 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_S770L,Missense_S757L,Missense_S827L rs3818513 1 65874037 [T/C] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 Silent,Silent,Silent exm66442 1 65877013 [T/G] NM_014787,NM_001256865,NM_001256864 DNAJC6,DNAJC6,DNAJC6 EXON Missense_E848D,Missense_E835D,Missense_E905D rs12145690 1 65887013 [A/C] NM_001198683,NM_017526,NM_001003679,NM_002303,NM_001003680,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Silent,Silent,Silent,Silent,Silent,Silent exm66454 1 65891031 [T/G] NM_001198683,NM_017526,NM_001003679,NM_002303,NM_001003680,NM_001198681 LEPROT,LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Missense_L21R,Missense_L21R,Silent,Silent,Silent,Missense_L30R rs12077210 1 65894160 [T/C] NM_017526,NM_001003679,NM_002303,NM_001003680,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT Silent,Silent,Silent,Silent,Silent rs7534511 1 65895130 [A/G] NM_017526,NM_001003679,NM_002303,NM_001003680,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT Silent,Silent,Silent,Silent,Silent exm66458 1 65895599 [T/G] NM_017526,NM_001003679,NM_002303,NM_001003680,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_002303,NM_001003680,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT EXON Missense_R67W,Silent,Silent,Silent,Missense_R76W rs9436301 1 65895927 [T/C] NM_017526,NM_001003679,NM_002303,NM_001003680,NM_001198681 LEPROT,LEPR,LEPR,LEPR,LEPROT Silent,Silent,Silent,Silent,Silent rs9436748 1 65911672 [T/G] NM_001003679,NM_002303,NM_001003680 LEPR,LEPR,LEPR Silent,Silent,Silent rs2025803 1 65946506 [A/G] NM_001003679,NM_002303,NM_001003680 LEPR,LEPR,LEPR Silent,Silent,Silent rs17127673 1 65955725 [A/G] NM_001003679,NM_002303,NM_001003680 LEPR,LEPR,LEPR Silent,Silent,Silent rs1327121 1 65957337 [A/G] NM_001003679,NM_002303,NM_001003680 LEPR,LEPR,LEPR Silent,Silent,Silent rs1327115 1 65966839 [T/G] NM_001003679,NM_002303,NM_001003680 LEPR,LEPR,LEPR Silent,Silent,Silent rs10889557 1 65970704 [A/G] NM_001003679,NM_002303,NM_001003680 LEPR,LEPR,LEPR Silent,Silent,Silent rs2767485 1 65978917 [T/C] NM_001003679,NM_002303,NM_001003680 LEPR,LEPR,LEPR Silent,Silent,Silent rs1171278 1 65988146 [T/C] NM_001003679,NM_002303,NM_001003680 LEPR,LEPR,LEPR Silent,Silent,Silent rs6697315 1 65993556 [T/C] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs10749753 1 65998467 [A/G] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs1177681 1 65999119 [A/G] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs10158279 1 66033696 [T/G] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm66477 1 66036441 [A/G] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 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_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 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_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_V144L,Missense_V144L,Missense_V144L,Missense_V144L,Missense_V144L,Missense_V144L rs11208675 1 66045424 [T/G] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs12059300 1 66047072 [A/G] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs12042877 1 66053148 [T/C] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent rs2154380 1 66057441 [T/C] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm66493 1 66058456 [A/G] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 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_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 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_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 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_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 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_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_H416Y,Missense_H416Y,Missense_H416Y,Missense_H416Y,Missense_H416Y,Missense_H416Y variant.4030 1 66067643 [A/G] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_R468K,Missense_R468K,Missense_R468K,Missense_R468K,Missense_R468K,Missense_R468K exm66526 1 66070891 [T/C] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_P525L,Missense_P525L,Missense_P525L,Missense_P525L,Missense_P525L,Missense_P525L rs4606347 1 66073361 [A/G] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm66528 1 66074545 [T/G] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_Q571H,Missense_Q571H,Missense_Q571H,Missense_Q571H,Missense_Q571H,Missense_Q571H var_1_66074585 1 66074585 [A/G] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm1863137 1 66075690 [T/G] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 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_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_R612H,Missense_R612H,Missense_R612H,Missense_R612H,Missense_R612H,Missense_R612H rs6678033 1 66077624 [A/G] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm66543 1 66081791 [T/C] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 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_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 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_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR EXON Missense_I783T,Missense_I783T,Missense_I783T,Missense_I783T,Missense_I783T,Missense_I783T rs4567312 1 66089582 [T/C] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm-rs6700896 1 66089782 [T/C] NM_001003679,NM_002303,NM_001003680,NM_001198688,NM_001198687,NM_001198689 LEPR,LEPR,LEPR,LEPR,LEPR,LEPR Silent,Silent,Silent,Silent,Silent,Silent exm66572 1 66101898 [A/G] NM_002303 LEPR EXON Missense_I900V rs1805096 1 66102257 [A/G] NM_002303 LEPR EXON Synonymous_P1019P 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] rs11812068 1 66125318 [A/C] rs12239571 1 66140817 [A/G] rs10158937 1 66144876 [A/C] exm-rs4420065 1 66161461 [T/C] rs6667615 1 66162630 [A/G] rs7524581 1 66166499 [T/C] exm-rs12753193 1 66169679 [A/G] rs7539471 1 66185403 [A/G] rs10789198 1 66202755 [A/G] rs11208726 1 66205540 [T/C] rs4593796 1 66220046 [A/G] rs12401401 1 66231308 [A/G] rs11808116 1 66236207 [T/C] rs12046844 1 66238379 [A/G] rs11208755 1 66269066 [T/G] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs4384209 1 66279125 [A/G] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs7517475 1 66298161 [A/G] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs10493388 1 66308651 [A/G] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent exm-rs10493389 1 66310865 [T/C] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs12125534 1 66311760 [T/C] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs6684621 1 66315450 [T/C] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs2801581 1 66326917 [A/G] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs1316871 1 66339048 [T/C] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent exm2252660 1 66339048 [T/C] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs12760605 1 66341764 [T/C] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs4655804 1 66352755 [T/C] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs12744291 1 66362971 [A/G] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs4329483 1 66374004 [A/G] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent newrs141332901 1 66379041 [T/G] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs17451403 1 66387487 [T/C] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs17451451 1 66388153 [A/G] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs2310752 1 66392405 [A/G] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs2997091 1 66399635 [A/G] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs12568672 1 66411430 [A/G] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs1937455 1 66416939 [A/G] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs10789205 1 66426100 [T/C] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs17128166 1 66438365 [T/C] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs1937457 1 66446787 [T/C] NM_001037341,NM_002600 PDE4B,PDE4B Silent,Silent rs2253745 1 66457244 [A/G] 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 rs7534143 1 66470379 [T/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs12757542 1 66496108 [A/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs7522003 1 66500298 [T/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs2228693 1 66509014 [A/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent exm2252665 1 66509014 [A/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs7530150 1 66513674 [A/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs12040042 1 66517050 [A/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs6588184 1 66524757 [A/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs12037891 1 66527232 [A/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs7552924 1 66538408 [A/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs6588186 1 66547009 [T/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs12406476 1 66555792 [T/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs4655595 1 66558759 [A/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs650440 1 66580943 [A/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs12745871 1 66587376 [T/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs539322 1 66589748 [A/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs563573 1 66598763 [T/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs596662 1 66603875 [A/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs2503174 1 66609154 [A/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs1604269 1 66615238 [T/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs17128467 1 66620844 [A/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs2485381 1 66627732 [A/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs12135034 1 66646184 [A/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs11208816 1 66663239 [T/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs486438 1 66674663 [A/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs1416312 1 66682087 [T/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs544361 1 66683452 [T/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs6588192 1 66700873 [T/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 rs12043611 1 66716207 [A/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent variant.4034 1 66723209 [A/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs12021574 1 66736001 [T/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs543589 1 66737060 [A/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs594965 1 66747613 [A/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs519044 1 66756717 [T/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs524770 1 66766222 [A/G] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs6689595 1 66776137 [T/C] NM_001037341,NM_002600,NM_001037340 PDE4B,PDE4B,PDE4B Silent,Silent,Silent rs910693 1 66796248 [A/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 rs518476 1 66801552 [T/C] NM_001037341,NM_002600,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs693826 1 66802591 [T/G] NM_001037341,NM_002600,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent rs1890197 1 66802772 [T/C] NM_001037341,NM_002600,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B Silent,Silent,Silent,Silent indel.4036 1 66837994 [D/I] NM_001037341,NM_002600,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B 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 rs783067 1 66838733 [A/C] NM_001037341,NM_002600,NM_001037340,NM_001037339 PDE4B,PDE4B,PDE4B,PDE4B EXON Silent,Silent,Silent,Silent rs783060 1 66846766 [A/C] rs1194486 1 66855387 [A/G] rs11208847 1 66866041 [T/C] rs12093028 1 66887451 [A/G] rs12140647 1 66905141 [A/C] rs783435 1 66915125 [A/G] rs10889612 1 66920654 [T/C] rs10889617 1 66929805 [A/G] rs699260 1 66930964 [A/C] rs783322 1 66941630 [A/C] rs1025993 1 66957337 [A/C] rs1338211 1 66959434 [T/C] rs765685 1 66965475 [A/G] rs17432003 1 66967395 [A/G] rs7555470 1 66969013 [A/C] rs2121047 1 66969954 [T/C] rs6674096 1 66972478 [A/G] rs12093875 1 66988401 [T/C] rs2121052 1 66988477 [A/G] rs10493407 1 66991699 [T/G] rs7532400 1 66998436 [A/C] rs4655616 1 67002765 [A/C] NM_032291 SGIP1 Silent rs1415974 1 67005503 [T/C] NM_032291 SGIP1 Silent rs1338189 1 67030831 [T/C] NM_032291 SGIP1 Silent rs920987 1 67043120 [T/C] NM_032291 SGIP1 Silent rs1445573 1 67047442 [A/G] NM_032291 SGIP1 Silent rs11208917 1 67063385 [T/C] NM_032291 SGIP1 Silent rs6588207 1 67066555 [A/G] NM_032291 SGIP1 Silent rs11208920 1 67075312 [A/C] NM_032291 SGIP1 Silent rs11208924 1 67083647 [A/G] NM_032291 SGIP1 Silent rs11208927 1 67089561 [T/C] NM_032291 SGIP1 Silent exm66716 1 67091560 [G/C] NM_032291 SGIP1 EXON Missense_G14A variant.4037 1 67091593 [T/C] NM_032291 SGIP1 EXON Missense_T25I rs5008753 1 67092248 [A/G] NM_032291 SGIP1 Silent rs6696812 1 67100309 [T/C] NM_032291 SGIP1 Silent variant.4038 1 67101698 [T/G] NM_032291 SGIP1 EXON Synonymous_S57S 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 rs7526812 1 67109335 [A/G] NM_032291 SGIP1 EXON Missense_K131R rs6689755 1 67113050 [A/G] NM_032291 SGIP1 Silent rs6656705 1 67122504 [T/G] NM_032291 SGIP1 Silent rs6681460 1 67123057 [A/G] NM_032291 SGIP1 Silent exm-rs11208940 1 67127242 [A/G] NM_032291 SGIP1 Silent exm66750 1 67133217 [A/G] NM_032291 SGIP1 EXON Missense_R159H variant.4043 1 67142685 [A/G] NM_032291 SGIP1 Silent var_1_67145440 1 67145440 [A/G] NM_032291 SGIP1 Silent 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 rs11208949 1 67159658 [A/G] NM_032291 SGIP1 Silent exm2252709 1 67160602 [A/G] NM_032291 SGIP1 Silent rs1325267 1 67160814 [T/C] NM_032291 SGIP1 Silent indel.4045 1 67161063 [I/D] NM_032291 SGIP1 exm66821 1 67161137 [A/G] NM_032291 SGIP1 EXON Missense_V531I rs12117649 1 67168606 [A/G] NM_032291 SGIP1 Silent rs7515848 1 67188829 [A/G] NM_032291 SGIP1 Silent rs536410 1 67191084 [T/C] NM_032291 SGIP1 Silent rs9988481 1 67196277 [T/C] NM_032291 SGIP1 Silent exm66839 1 67199543 [A/G] NM_032291 SGIP1 EXON Missense_V671I exm66848 1 67205174 [A/G] NM_032291 SGIP1 EXON Missense_D730N rs604737 1 67209088 [A/G] NM_032291 SGIP1 EXON Silent variant.4046 1 67220432 [T/C] NM_152665 TCTEX1D1 EXON Nonsense_R31X exm66873 1 67220450 [T/C] NM_152665 TCTEX1D1 EXON Missense_R37C rs2274987 1 67221387 [T/C] NM_152665 TCTEX1D1 Silent rs1391547 1 67231916 [T/C] NM_152665 TCTEX1D1 Silent rs12727422 1 67235320 [A/C] NM_152665 TCTEX1D1 Silent exm66875 1 67236097 [A/T] NM_152665 TCTEX1D1 EXON Missense_E49D variant.4047 1 67236107 [T/C] NM_152665 TCTEX1D1 EXON Nonsense_Q53X exm66878 1 67236126 [A/G] NM_152665 TCTEX1D1 EXON Missense_R59H newrs3816989 1 67242087 [A/G] NM_152665 TCTEX1D1 Silent exm66887 1 67242087 [A/G] NM_152665 TCTEX1D1 Silent exm66889 1 67243024 [A/C] NM_152665 TCTEX1D1 EXON Missense_L143I rs2133173 1 67243024 [A/C] NM_152665 TCTEX1D1 EXON Missense_L143I rs11208957 1 67257871 [T/C] rs7533363 1 67261079 [T/C] rs559809 1 67262748 [A/G] indel.4049 1 67263745 [I/D] NM_005478 INSL5 EXON variant.4050 1 67263752 [A/G] NM_005478 INSL5 EXON Nonsense_Q118X var_1_67263775 1 67263775 [T/G] NM_005478 INSL5 EXON Nonsense_S110X var_1_67263815 1 67263815 [A/G] NM_005478 INSL5 EXON Nonsense_Q97X 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 var_1_67266730 1 67266730 [T/C] NM_005478 INSL5 EXON Missense_A59T rs549148 1 67266756 [T/A] NM_005478 INSL5 EXON Missense_Q50L 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 indel.4055 1 67266880 [D/I] NM_005478 INSL5 EXON exm66917 1 67279835 [A/G] NM_024763 WDR78 EXON Missense_S842F rs7550905 1 67280515 [A/G] NM_024763 WDR78 Silent rs17495916 1 67283439 [T/C] NM_024763 WDR78 Silent exm66924 1 67288045 [T/C] NM_024763 WDR78 EXON Missense_R832Q indel.4057 1 67288063 [D/I] NM_024763 WDR78 EXON indel.4058 1 67288128 [I/D] NM_024763 WDR78 EXON variant.4059 1 67288201 [T/C] NM_024763 WDR78 Silent 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 rs7548267 1 67297122 [A/G] NM_024763 WDR78 Silent variant.4063 1 67299267 [A/C] NM_024763 WDR78 Silent exm66958 1 67299305 [T/C] NM_024763 WDR78 EXON Missense_R659Q variant.4064 1 67299306 [A/G] NM_024763 WDR78 EXON Nonsense_R659X variant.4066 1 67299381 [A/G] NM_024763 WDR78 EXON Nonsense_R634X variant.4067 1 67299674 [T/C] NM_024763 WDR78 EXON Missense_D631N var_1_67301308 1 67301308 [A/C] NM_024763 WDR78 Silent 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 rs11208966 1 67306054 [A/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent exm66981 1 67306176 [T/G] NM_024763,NM_207014 WDR78,WDR78 EXON Missense_S490R,Missense_S490R newrs143910870 1 67306226 [A/G] NM_024763,NM_207014 WDR78,WDR78 EXON Nonsense_R474X,Nonsense_R474X rs12030322 1 67306616 [A/G] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent 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 variant.4072 1 67327825 [A/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent 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 rs1280338 1 67337285 [A/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent rs1925400 1 67352960 [T/C] NM_024763,NM_207014 WDR78,WDR78 Silent,Silent 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 indel.4074 1 67411991 [D/I] NM_001146113,NM_020948,NM_001077700,NM_001077703,NM_001077702,NM_001146111,NM_001146110,NM_001146112,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 rs12090955 1 67412261 [T/G] NM_001146113,NM_020948,NM_001077700,NM_001077703,NM_001077702,NM_001146111,NM_001146110,NM_001146112,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11208975 1 67413618 [T/C] NM_001146113,NM_020948,NM_001077700,NM_001077703,NM_001077702,NM_001146111,NM_001146110,NM_001146112,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.4075 1 67423905 [T/C] NM_001146113,NM_020948,NM_001077700,NM_001077703,NM_001077702,NM_001146111,NM_001146110,NM_001146112,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm67057 1 67424637 [A/G] NM_001146113,NM_020948,NM_001077700,NM_001077703,NM_001077702,NM_001146111,NM_001146110,NM_001146112,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_R86H,Missense_R166H,Missense_R202H,Missense_R202H,Missense_R166H,Missense_R166H,Missense_R166H,Missense_R122H,Missense_R149H,Missense_R149H rs4553158 1 67436446 [A/G] NM_001146113,NM_020948,NM_001077700,NM_001077703,NM_001077702,NM_001146111,NM_001146110,NM_001146112,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11208979 1 67442275 [T/C] NM_001146113,NM_020948,NM_001077700,NM_001077703,NM_001077702,NM_001146111,NM_001146110,NM_001146112,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm67080 1 67450263 [T/C] NM_001146113,NM_020948,NM_001077700,NM_001077703,NM_001077702,NM_001146111,NM_001146110,NM_001146112,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_S344P,Missense_S424P,Missense_S460P,Missense_S460P,Missense_S424P,Missense_S424P,Missense_S424P,Missense_S380P,Missense_S407P,Missense_S407P variant.4076 1 67450277 [T/C] NM_001146113,NM_020948,NM_001077700,NM_001077703,NM_001077702,NM_001146111,NM_001146110,NM_001146112,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Silent,Synonymous_G428G,Synonymous_G464G,Silent,Silent,Synonymous_G428G,Synonymous_G428G,Synonymous_G384G,Synonymous_G411G,Silent indel.4077 1 67450286 [D/I] NM_001146113,NM_020948,NM_001077700,NM_001077703,NM_001077702,NM_001146111,NM_001146110,NM_001146112,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON exm67083 1 67450334 [A/G] NM_001146113,NM_020948,NM_001077700,NM_001077703,NM_001077702,NM_001146111,NM_001146110,NM_001146112,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Silent,Synonymous_T447T,Synonymous_T483T,Silent,Silent,Synonymous_T447T,Synonymous_T447T,Synonymous_T403T,Synonymous_T430T,Silent exm67089 1 67450431 [A/G] NM_001146113,NM_020948,NM_001077700,NM_001077703,NM_001077702,NM_001146111,NM_001146110,NM_001146112,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Silent,Missense_R480G,Missense_R516G,Silent,Silent,Silent,Missense_R480G,Missense_R436G,Missense_R463G,Silent 1KG_1_67450498 1 67450498 [I/D] NM_001146113,NM_020948,NM_001077700,NM_001077703,NM_001077702,NM_001146111,NM_001146110,NM_001146112,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON exm67097 1 67452140 [A/G] NM_001146113,NM_020948,NM_001077700,NM_001077703,NM_001077702,NM_001146111,NM_001146110,NM_001146112,NM_001077701,NM_001077704 MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1,MIER1 EXON Missense_N366S,Silent,Silent,Missense_N482S,Missense_N446S,Missense_N466S,Silent,Silent,Silent,Missense_N429S rs17497947 1 67457199 [T/G] rs4486425 1 67460791 [T/C] rs17129595 1 67473378 [A/G] NM_015139 SLC35D1 Silent indel.4082 1 67474835 [I/D] NM_015139 SLC35D1 EXON 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 rs2815361 1 67494591 [T/G] NM_015139 SLC35D1 Silent rs2755251 1 67496425 [A/C] NM_015139 SLC35D1 Silent exm1868328 1 67507941 [T/C] NM_015139 SLC35D1 EXON Missense_Y236C rs2815378 1 67509698 [T/C] NM_015139 SLC35D1 Silent rs1024229 1 67512903 [T/G] NM_015139 SLC35D1 Silent exm67117 1 67512998 [T/C] NM_015139 SLC35D1 EXON Missense_V196I rs2755259 1 67517022 [T/C] NM_015139 SLC35D1 Silent variant.4086 1 67517692 [T/C] NM_015139 SLC35D1 Silent 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 rs4655513 1 67526071 [A/C] rs983111 1 67539356 [T/C] rs10789220 1 67551209 [T/C] rs11806560 1 67558275 [T/C] NM_001276351,NM_001276352,NM_001013674,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Silent,Silent,Silent,Silent indel.4089 1 67558817 [I/D] NM_001276351,NM_001276352,NM_001013674,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON exm67152 1 67558858 [T/C] NM_001276351,NM_001276352,NM_001013674,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Missense_G345R,Silent,Missense_G345R,Silent exm67156 1 67559041 [T/C] NM_001276351,NM_001276352,NM_001013674,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Missense_M284V,Silent,Missense_M284V,Silent indel.4091 1 67559044 [D/I] NM_001276351,NM_001276352,NM_001013674,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON exm67171 1 67560956 [T/C] NM_001276351,NM_001276352,NM_001013674,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Missense_V189I,Silent,Missense_V189I,Silent indel.4094 1 67561030 [D/I] NM_001276351,NM_001276352,NM_001013674,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON exm67184 1 67561087 [A/C] NM_001276351,NM_001276352,NM_001013674,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Missense_M145R,Silent,Missense_M145R,Silent exm67186 1 67561090 [T/C] NM_001276351,NM_001276352,NM_001013674,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Missense_Q144R,Silent,Missense_Q144R,Silent newrs145606616 1 67561988 [I/D] NM_001276351,NM_001276352,NM_001013674,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON exm67190 1 67562003 [A/G] NM_001276351,NM_001276352,NM_001013674,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Synonymous_A116A,Synonymous_A187A,Synonymous_A116A,Silent rs1885276 1 67568824 [T/G] NM_001276351,NM_001276352,NM_001013674,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 Silent,Silent,Silent,Silent rs10749771 1 67573730 [A/G] NM_001276351,NM_001276352,NM_001013674,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 Silent,Silent,Silent,Silent rs7520634 1 67580350 [A/G] NM_001276351,NM_001276352,NM_001013674,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 Silent,Silent,Silent,Silent exm67196 1 67581127 [T/C] NM_001276351,NM_001276352,NM_001013674,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Missense_E85G,Missense_E85G,Missense_E85G,Silent rs17129664 1 67583298 [T/C] NM_001276351,NM_001276352,NM_001013674,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 Silent,Silent,Silent,Silent exm67198 1 67591496 [T/C] NM_001276351,NM_001276352,NM_001013674,NR_075077 C1orf141,C1orf141,C1orf141,C1orf141 EXON Missense_A58T,Missense_A58T,Missense_A58T,Silent rs3762318 1 67597119 [A/G] NM_001276351,NM_001276352,NR_075077 C1orf141,C1orf141,C1orf141 Silent,Silent,Silent rs10489631 1 67601115 [A/G] exm-rs11209003 1 67601132 [T/G] rs10789224 1 67605134 [T/C] 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 exm2252741 1 67648625 [T/C] NM_144701 IL23R EXON Synonymous_Y158Y exm67222 1 67648625 [T/C] NM_144701 IL23R EXON Synonymous_Y158Y exm67223 1 67648630 [T/C] NM_144701 IL23R EXON Missense_V160A rs6588248 1 67652984 [T/G] NM_144701 IL23R Silent rs2064689 1 67653010 [A/G] NM_144701 IL23R Silent exm2252742 1 67654110 [A/G] NM_144701 IL23R Silent rs4655690 1 67659896 [A/G] NM_144701 IL23R Silent rs10489630 1 67662622 [A/C] 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 rs2902440 1 67670916 [A/G] NM_144701 IL23R Silent indel.4100 1 67672658 [I/D] NM_144701 IL23R EXON rs7539625 1 67672765 [A/G] NM_144701 IL23R Silent exm-rs11805303 1 67675516 [T/C] NM_144701 IL23R Silent rs790631 1 67676922 [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 rs7530511 1 67685387 [T/C] NM_144701 IL23R EXON Missense_L310P rs10489629 1 67688349 [T/C] NM_144701 IL23R Silent 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 variant.4103 1 67705957 [T/C] NM_144701 IL23R EXON Nonsense_R381X rs11209026 1 67705958 [A/G] NM_144701 IL23R EXON Missense_R381Q exm67254 1 67705958 [A/G] NM_144701 IL23R EXON Missense_R381Q rs6682033 1 67708670 [A/G] NM_144701 IL23R Silent rs6693831 1 67720867 [T/C] NM_144701 IL23R Silent rs10889676 1 67722567 [A/C] NM_144701 IL23R Silent exm67263 1 67724382 [A/C] NM_144701 IL23R EXON Missense_Q487H exm-rs10889677 1 67725120 [A/C] NM_144701 IL23R EXON Silent rs11209030 1 67737775 [A/C] rs12568764 1 67740835 [T/G] rs12119179 1 67747415 [A/C] rs1495965 1 67753508 [T/C] exm-rs924080 1 67760140 [T/C] rs11209045 1 67770799 [A/G] rs12142823 1 67773351 [T/C] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Silent,Silent,Silent,Silent,Silent exm67275 1 67786061 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_T4A,Silent,Missense_T4A,Missense_T4A,Missense_T4A exm67276 1 67786066 [A/T] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_F5L,Silent,Missense_F5L,Missense_F5L,Missense_F5L exm67277 1 67786076 [T/C] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_S9P,Silent,Missense_S9P,Missense_S9P,Missense_S9P exm67278 1 67786088 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_M13V,Silent,Missense_M13V,Missense_M13V,Missense_M13V exm67282 1 67787286 [T/C] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Synonymous_D26D,Silent,Synonymous_D26D,Synonymous_D26D,Synonymous_D26D indel.4105 1 67787305 [I/D] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON exm67289 1 67787353 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_I49V,Silent,Missense_I49V,Missense_I49V,Missense_I49V exm67296 1 67787420 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_Y71C,Silent,Missense_Y71C,Missense_Y71C,Missense_Y71C exm67297 1 67787434 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_R76G,Silent,Missense_R76G,Missense_R76G,Missense_R76G indel.4107 1 67787519 [D/I] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON rs2201584 1 67787715 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent exm67298 1 67792499 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_R149Q,Silent,Missense_R149Q,Missense_R149Q,Missense_R149Q rs10489626 1 67793171 [C/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent exm2233759 1 67793935 [A/T] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_C178S,Silent,Missense_C178S,Missense_C178S,Missense_C178S var_1_67794072 1 67794072 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent var_1_67795371 1 67795371 [T/C] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Nonsense_R256X,Silent,Nonsense_R256X,Nonsense_R256X,Nonsense_R256X exm1869053 1 67796346 [T/A] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_N271Y,Silent,Missense_N271Y,Missense_N271Y,Missense_N271Y exm67320 1 67796454 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_D307N,Silent,Missense_D307N,Missense_D307N,Missense_D307N exm67321 1 67796490 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_E319K,Silent,Missense_E319K,Missense_E319K,Missense_E319K rs6693065 1 67800018 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent exm2268898 1 67800712 [T/C] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent exm67324 1 67804336 [T/A] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_M330L,Silent,Missense_M330L,Missense_M330L,Missense_M330L exm67325 1 67804355 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_Y336C,Silent,Missense_Y336C,Missense_Y336C,Missense_Y336C rs3790565 1 67811356 [T/C] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent rs3790566 1 67814440 [T/C] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent exm67327 1 67816631 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_M373V,Silent,Missense_M373V,Missense_M373V,Missense_M373V exm67328 1 67816685 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_G391R,Silent,Missense_G391R,Missense_G391R,Missense_G391R exm67329 1 67816689 [A/T] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_N392I,Silent,Missense_N392I,Missense_N392I,Missense_N392I exm67331 1 67816701 [T/C] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_A396V,Silent,Missense_A396V,Missense_A396V,Missense_A396V exm67336 1 67816772 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_G420R,Silent,Missense_G420R,Missense_G420R,Missense_G420R exm-rs3790567 1 67822377 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent exm67342 1 67833527 [C/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_Q426H,Silent,Missense_Q426H,Missense_Q426H,Missense_Q426H exm67345 1 67833643 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_G465D,Silent,Missense_G465D,Missense_G465D,Missense_G465D variant.4112 1 67833668 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Nonsense_W473X,Silent,Nonsense_W473X,Nonsense_W473X,Nonsense_W473X variant.4113 1 67833678 [T/C] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Nonsense_R477X,Silent,Nonsense_R477X,Nonsense_R477X,Nonsense_R477X rs10493423 1 67837158 [T/C] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent exm67349 1 67838152 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_R498H,Silent,Missense_R498H,Missense_R498H,Silent exm67350 1 67838216 [A/T] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_K519N,Silent,Missense_K519N,Missense_K519N,Silent exm67351 1 67838217 [T/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_A520S,Silent,Missense_A520S,Missense_A520S,Silent indel.4115 1 67845805 [I/D] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON rs881087 1 67846156 [T/C] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent exm67363 1 67852280 [T/C] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Missense_A625V,Silent,Missense_A625V,Silent,Missense_A539V rs4297265 1 67852335 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Synonymous_T643T,Silent,Synonymous_T643T,Silent,Synonymous_T557T indel.4116 1 67852351 [D/I] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON rs11209063 1 67855142 [T/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 Silent,Silent,Silent,Silent,Silent,Silent exm2252749 1 67855772 [A/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Silent,Silent,Synonymous_P669P,Silent,Synonymous_P583P exm67375 1 67861276 [T/C] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Silent,Silent,Missense_T698M,Synonymous_H634H,Missense_T612M exm67378 1 67861350 [T/A] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Silent,Silent,Missense_C723S,Silent,Missense_C637S exm67389 1 67861690 [C/G] NR_047584,NM_001258214,NR_047583,NM_001559,NM_001258216,NM_001258215 IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2,IL12RB2 EXON Silent,Silent,Silent,Missense_S836C,Silent,Missense_S750C indel.4118 1 67890006 [I/D] NM_001018067,NM_001018068,NM_001018069,NM_015640 SERBP1,SERBP1,SERBP1,SERBP1 newrs139147758 1 67891818 [T/C] NM_001018067,NM_001018068,NM_001018069,NM_015640 SERBP1,SERBP1,SERBP1,SERBP1 EXON Missense_R155K,Missense_R155K,Missense_R155K,Missense_R155K rs11209072 1 67908644 [A/G] rs12116575 1 67912259 [T/C] rs1340589 1 67924391 [A/G] rs4633262 1 67926980 [T/C] rs4655715 1 67944943 [T/C] rs4655716 1 67945005 [A/G] rs6695089 1 67951218 [A/G] rs7554654 1 67953681 [A/G] rs7514743 1 67967813 [A/G] rs9285766 1 67968725 [A/C] rs7538875 1 67980297 [A/C] rs11209099 1 67982128 [A/G] rs11209101 1 67989691 [A/C] rs7539855 1 67998133 [A/C] rs4233318 1 68001373 [T/G] rs4655561 1 68005643 [T/C] rs10493425 1 68010127 [A/C] rs12120145 1 68012254 [T/C] rs1340592 1 68021103 [A/G] rs7530157 1 68021906 [T/C] rs4655735 1 68027219 [A/G] rs12085093 1 68038313 [T/C] rs699235 1 68043745 [A/C] rs9919329 1 68046274 [T/C] rs787533 1 68046309 [T/C] rs699233 1 68046354 [T/C] rs787538 1 68050630 [T/C] rs11585171 1 68055347 [A/G] rs787508 1 68065339 [A/G] rs2418455 1 68069073 [T/C] rs787496 1 68083054 [A/G] exm2264852 1 68084290 [A/G] rs12069919 1 68084290 [A/G] rs787494 1 68085586 [T/C] rs787481 1 68095207 [T/C] rs12132307 1 68101543 [A/G] rs11209133 1 68106505 [T/C] rs12134425 1 68117203 [T/G] rs12748843 1 68128130 [A/C] rs344934 1 68137613 [T/C] rs488778 1 68147143 [T/C] rs624790 1 68147774 [T/G] rs685724 1 68154693 [T/C] rs7419 1 68167491 [T/C] NM_018841 GNG12 EXON Silent exm67467 1 68171216 [T/C] NM_018841 GNG12 EXON Missense_H46R exm67469 1 68171235 [T/C] NM_018841 GNG12 EXON Missense_M40V rs11809014 1 68196980 [T/G] NM_018841 GNG12 Silent rs557986 1 68208946 [T/C] NM_018841 GNG12 Silent rs577305 1 68238855 [T/C] NM_018841 GNG12 Silent rs2802462 1 68247614 [A/G] NM_018841 GNG12 Silent rs1276303 1 68260778 [T/C] NM_018841 GNG12 Silent rs17130309 1 68278542 [T/C] NM_018841 GNG12 Silent rs2246675 1 68290946 [A/G] NM_018841 GNG12 Silent rs6588283 1 68299797 [T/C] NR_040077 GNG12-AS1 Silent rs6671298 1 68313038 [A/G] NR_040077 GNG12-AS1 Silent rs1938446 1 68335624 [A/G] NR_040077 GNG12-AS1 Silent rs7520899 1 68358177 [T/C] NR_040077 GNG12-AS1 Silent rs7552577 1 68366925 [A/C] NR_040077 GNG12-AS1 Silent rs11583096 1 68373757 [T/G] NR_040077 GNG12-AS1 Silent rs7520193 1 68393522 [A/C] NR_040077 GNG12-AS1 Silent rs6665420 1 68401005 [A/C] NR_040077 GNG12-AS1 Silent rs1938429 1 68406484 [A/G] NR_040077 GNG12-AS1 Silent rs1938426 1 68407584 [T/C] NR_040077 GNG12-AS1 Silent rs11209181 1 68416023 [T/C] NR_040077 GNG12-AS1 Silent exm2260604 1 68428049 [T/C] NR_040077 GNG12-AS1 Silent rs1926284 1 68446291 [T/C] NR_040077 GNG12-AS1 Silent rs6662448 1 68447267 [A/G] NR_040077 GNG12-AS1 Silent rs12040310 1 68458532 [A/G] NR_040077 GNG12-AS1 Silent rs10889737 1 68468718 [T/C] NR_040077 GNG12-AS1 Silent rs2209620 1 68475955 [A/C] NR_040077 GNG12-AS1 Silent rs11209195 1 68480671 [T/C] NR_040077 GNG12-AS1 Silent rs7550608 1 68508995 [A/G] NR_040077 GNG12-AS1 Silent rs11801053 1 68512171 [T/C] NR_040077,NM_004675 GNG12-AS1,DIRAS3 EXON Silent,Silent exm67502 1 68512899 [A/C] NR_040077,NM_004675 GNG12-AS1,DIRAS3 EXON Silent,Missense_A28S rs198866 1 68551909 [T/G] NR_040077 GNG12-AS1 Silent indel.4122 1 68564374 [D/I] NR_040077,NM_001002292 GNG12-AS1,WLS EXON exm67512 1 68564392 [G/C] NR_040077,NM_001002292 GNG12-AS1,WLS EXON Silent,Missense_V519L indel.4123 1 68564393 [I/D] NR_040077,NM_001002292 GNG12-AS1,WLS EXON rs6671127 1 68571220 [A/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs12134024 1 68581085 [T/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs2566761 1 68581861 [T/C] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs12046920 1 68586620 [T/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs10889748 1 68589935 [T/G] NR_040077,NM_001002292 GNG12-AS1,WLS Silent,Silent rs7062 1 68591253 [T/C] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS EXON Silent,Silent,Silent,Silent rs7552304 1 68597121 [A/G] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2772283 1 68599901 [T/C] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2566784 1 68602735 [T/G] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm2264853 1 68603129 [A/G] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm67526 1 68603512 [T/C] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_M487I,Missense_M398I,Missense_M489I exm67529 1 68603586 [T/C] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_V463I,Missense_V374I,Missense_V465I exm67530 1 68603612 [A/G] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_T454M,Missense_T365M,Missense_T456M rs2052959 1 68609491 [T/G] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm1871452 1 68611566 [A/G] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_R420W,Missense_R331W,Missense_R422W exm67537 1 68611617 [A/G] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_R403W,Missense_R314W,Missense_R405W exm67540 1 68613819 [A/G] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS EXON Silent,Synonymous_A376A,Synonymous_A287A,Synonymous_A378A exm2252792 1 68614320 [A/G] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS EXON Silent,Synonymous_I330I,Synonymous_I241I,Synonymous_I332I exm67546 1 68614330 [T/C] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_R327Q,Missense_R238Q,Missense_R329Q variant.4125 1 68619222 [A/G] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS EXON Silent,Nonsense_R259X,Nonsense_R170X,Nonsense_R261X rs12733835 1 68622994 [A/C] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm67567 1 68624879 [A/G] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_A142V,Missense_A53V,Missense_A144V exm2233768 1 68624921 [A/G] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_A128V,Missense_A39V,Missense_A130V rs2820489 1 68628540 [T/C] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2419343 1 68630667 [T/C] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm-rs1430742 1 68635075 [T/C] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm-rs2566755 1 68635390 [T/C] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2772304 1 68636580 [A/C] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs4233320 1 68638451 [T/G] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs12085739 1 68645683 [T/C] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs12407028 1 68647716 [T/C] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2772300 1 68648026 [A/G] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs891526 1 68651948 [A/G] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs2820500 1 68658961 [T/C] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent exm67576 1 68659719 [C/G] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS EXON Silent,Missense_H98D,Silent,Missense_H100D rs1036067 1 68660092 [T/G] NR_040077,NM_001002292,NM_001193334,NM_024911 GNG12-AS1,WLS,WLS,WLS Silent,Silent,Silent,Silent rs10493436 1 68686391 [A/C] NM_001002292,NM_001193334,NM_024911 WLS,WLS,WLS Silent,Silent,Silent rs10493438 1 68687697 [T/C] NM_001002292,NM_001193334,NM_024911 WLS,WLS,WLS Silent,Silent,Silent rs10493439 1 68688069 [A/G] NM_001002292,NM_001193334,NM_024911 WLS,WLS,WLS Silent,Silent,Silent rs1430753 1 68692642 [A/G] NM_001002292,NM_001193334,NM_024911 WLS,WLS,WLS Silent,Silent,Silent exm67586 1 68697881 [C/G] NM_001002292,NM_001193334,NM_024911 WLS,WLS,WLS EXON Missense_L34F,Missense_L34F,Missense_L34F indel.4126 1 68697903 [I/D] NM_001002292,NM_001193334,NM_024911 WLS,WLS,WLS EXON rs17130627 1 68713347 [T/C] rs6686875 1 68719016 [T/C] rs4655580 1 68720412 [T/G] rs7554674 1 68728518 [T/C] rs12045284 1 68729652 [A/G] rs12065581 1 68732819 [A/G] rs885098 1 68733478 [A/G] rs10889756 1 68739203 [T/C] rs7536982 1 68748015 [T/C] rs7546334 1 68750782 [A/G] rs3923451 1 68757334 [T/C] rs7541094 1 68764274 [T/G] rs12039098 1 68765106 [A/G] rs9436372 1 68773120 [A/G] rs4926354 1 68803646 [T/C] rs9436812 1 68821539 [T/C] rs4348764 1 68837810 [A/G] rs3118386 1 68839242 [T/C] rs1952124 1 68842068 [A/G] rs9436816 1 68847248 [T/C] rs7515572 1 68851568 [T/C] rs3125929 1 68865445 [A/G] rs11209295 1 68873255 [T/G] rs1925952 1 68875372 [A/G] rs10493443 1 68884722 [T/C] rs4264030 1 68893754 [A/G] rs2419988 1 68893832 [T/C] exm67606 1 68897002 [A/G] NM_000329 RPE65 EXON Missense_A434V var_1_68897011 1 68897011 [T/C] NM_000329 RPE65 EXON Missense_Y431C variant.4131 1 68897192 [T/C] NM_000329 RPE65 EXON Nonsense_W402X exm67614 1 68897202 [T/C] NM_000329 RPE65 EXON Missense_E399K exm1872588 1 68897243 [A/G] NM_000329 RPE65 EXON Missense_T385M variant.4132 1 68903896 [A/G] NM_000329 RPE65 EXON Missense_Y368H exm67620 1 68903928 [T/G] NM_000329 RPE65 EXON Missense_A357D rs3125902 1 68904266 [T/C] NM_000329 RPE65 Silent indel.4133 1 68904643 [D/I] NM_000329 RPE65 EXON exm2233773 1 68904742 [T/G] NM_000329 RPE65 EXON Missense_K294T exm67628 1 68904887 [T/C] NM_000329 RPE65 EXON Missense_N282S variant.4136 1 68904986 [T/C] NM_000329 RPE65 EXON Missense_Y249C exm67632 1 68905294 [G/C] NM_000329 RPE65 EXON Missense_I225M variant.4137 1 68905299 [A/C] NM_000329 RPE65 EXON Nonsense_E224X rs17130694 1 68909113 [T/C] NM_000329 RPE65 Silent exm67645 1 68910315 [T/C] NM_000329 RPE65 EXON Missense_A132T variant.4139 1 68910454 [T/G] NM_000329 RPE65 Silent exm67647 1 68910514 [T/G] NM_000329 RPE65 EXON Missense_I100L newrs61752873 1 68910540 [T/C] NM_000329 RPE65 EXON Missense_R91Q variant.4142 1 68912508 [A/G] NM_000329 RPE65 EXON Nonsense_R44X exm2252809 1 68912755 [T/C] NM_000329 RPE65 Silent newrs61751276 1 68915573 [T/C] NM_000329 RPE65 Silent rs435066 1 68927513 [T/C] rs1925961 1 68930300 [T/G] rs1924544 1 68933744 [A/G] rs7527841 1 68936124 [T/G] variant.4148 1 68942738 [A/C] NM_001114120,NM_017779 DEPDC1,DEPDC1 EXON Nonsense_Y771X,Nonsense_Y487X exm67682 1 68944843 [T/C] NM_001114120,NM_017779 DEPDC1,DEPDC1 EXON Missense_Y699C,Missense_Y415C exm67689 1 68947133 [A/G] NM_001114120,NM_017779 DEPDC1,DEPDC1 EXON Missense_T642M,Missense_T358M indel.4150 1 68947877 [I/D] NM_001114120,NM_017779 DEPDC1,DEPDC1 EXON exm67712 1 68948280 [A/C] NM_001114120,NM_017779 DEPDC1,DEPDC1 EXON Missense_I404R,Silent exm67719 1 68948567 [T/G] NM_001114120,NM_017779 DEPDC1,DEPDC1 EXON Nonsense_Y308X,Silent exm67720 1 68949665 [A/G] NM_001114120,NM_017779 DEPDC1,DEPDC1 EXON Missense_F293S,Missense_F293S exm1872980 1 68954662 [A/G] NM_001114120,NM_017779 DEPDC1,DEPDC1 EXON Missense_I176T,Missense_I176T variant.4153 1 68955130 [T/G] NM_001114120,NM_017779 DEPDC1,DEPDC1 Silent,Silent exm67745 1 68962660 [A/G] NM_001114120,NM_017779 DEPDC1,DEPDC1 EXON Missense_P8L,Missense_P8L rs6694935 1 68963397 [T/C] exm-rs7554119 1 68965439 [T/G] rs7554119 1 68965439 [T/G] rs6588326 1 68984066 [T/C] rs2147317 1 68990012 [T/C] rs17473413 1 68993460 [A/G] rs912499 1 69003582 [T/C] rs12756859 1 69009194 [T/C] rs3892217 1 69034457 [T/C] rs12406361 1 69045273 [A/G] rs2064375 1 69053937 [T/C] rs2507209 1 69070945 [T/C] rs11209332 1 69088662 [A/G] rs11209333 1 69099017 [T/C] rs1738013 1 69133160 [T/C] rs854285 1 69158190 [T/G] rs860534 1 69162800 [A/G] rs1018418 1 69174297 [A/C] rs7541833 1 69184038 [A/G] rs854286 1 69184214 [A/G] rs6692084 1 69239442 [A/C] rs854273 1 69243474 [A/C] rs12082973 1 69254610 [A/G] rs12760956 1 69263276 [T/C] kgp3280388 1 69265453 [T/C] rs6674177 1 69334834 [A/G] rs11209362 1 69347850 [A/C] rs9436417 1 69354742 [T/C] rs11799791 1 69403628 [T/C] rs13375505 1 69419136 [T/C] exm2260614 1 69441920 [A/C] rs7524839 1 69482704 [T/G] rs6701090 1 69500815 [A/G] rs6691636 1 69515706 [A/G] rs1507860 1 69520596 [A/G] rs2842053 1 69551411 [A/C] rs6671705 1 69569143 [T/C] exm-rs4147141 1 69579252 [A/G] rs2089502 1 69579838 [T/C] rs955093 1 69588193 [T/C] rs4650112 1 69597419 [T/G] rs1577611 1 69619701 [T/G] rs2784828 1 69627731 [A/G] rs11810068 1 69632907 [A/C] rs10493454 1 69659840 [A/G] rs1796938 1 69662082 [T/C] rs11209403 1 69680062 [T/C] rs12086324 1 69681190 [T/C] rs11209405 1 69684599 [A/G] exm-rs4650135 1 69684997 [T/C] rs4650137 1 69685100 [T/C] rs2246312 1 69711165 [T/C] rs2420826 1 69713109 [A/G] rs12123555 1 69743750 [T/C] rs1824448 1 69746933 [T/C] rs720233 1 69779437 [T/G] rs2815466 1 69789580 [T/C] rs12404688 1 69815440 [A/G] rs2765864 1 69830063 [A/G] rs548825 1 69851618 [T/C] rs7513164 1 69865203 [A/G] exm2252829 1 69874609 [T/C] rs1578356 1 69877882 [A/G] rs10518315 1 69879802 [T/G] rs868402 1 69885329 [T/G] rs11209454 1 69889691 [A/G] rs11209455 1 69891657 [A/G] rs1926264 1 69900116 [T/G] rs4650001 1 69904826 [A/C] rs9326089 1 69909410 [A/C] rs12042471 1 69909474 [T/C] rs1926268 1 69920333 [A/G] rs11209464 1 69920839 [T/C] rs11209468 1 69935119 [T/C] rs1120087 1 69943001 [T/C] rs12028493 1 69944198 [T/C] rs1341771 1 69951220 [A/G] rs11209479 1 69965403 [T/G] rs4259589 1 69972693 [A/G] rs6424550 1 69983647 [T/C] rs4589058 1 69993512 [A/G] rs10889836 1 70010325 [T/C] rs4650295 1 70029922 [T/C] rs1245060 1 70047731 [T/C] rs4650296 1 70063259 [T/C] rs1749504 1 70074131 [T/C] rs11809230 1 70084797 [T/C] rs6662257 1 70097256 [A/G] rs2066296 1 70097708 [T/G] rs7515290 1 70116825 [A/G] rs1024268 1 70117404 [T/C] rs227114 1 70124742 [A/G] rs227115 1 70124891 [A/G] rs12118129 1 70143124 [A/G] rs1417437 1 70154441 [T/C] rs17325299 1 70154480 [T/C] rs17131017 1 70155099 [T/C] rs1740900 1 70164686 [A/C] rs1740909 1 70176245 [T/G] rs1340773 1 70186036 [T/C] rs10889850 1 70207079 [T/G] rs11209536 1 70221562 [A/G] rs6424593 1 70223922 [A/G] rs7523521 1 70225340 [A/G] rs7520521 1 70248115 [T/C] NM_020794 LRRC7 Silent rs6681847 1 70263007 [T/C] NM_020794 LRRC7 Silent rs12028771 1 70272063 [A/G] NM_020794 LRRC7 Silent rs1913268 1 70279860 [A/G] NM_020794 LRRC7 Silent exm2264854 1 70297993 [A/G] NM_020794 LRRC7 Silent rs11209552 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 rs2226284 1 70335682 [T/C] NM_020794 LRRC7 Silent rs4623650 1 70343674 [A/G] NM_020794 LRRC7 Silent exm-rs12037173 1 70355981 [A/G] NM_020794 LRRC7 Silent rs6663915 1 70363601 [A/G] NM_020794 LRRC7 Silent rs6424609 1 70363647 [A/G] NM_020794 LRRC7 Silent rs6681560 1 70364313 [A/C] NM_020794 LRRC7 Silent kgp5735427 1 70382196 [A/G] NM_020794 LRRC7 Silent kgp8961276 1 70385871 [T/G] NM_020794,NR_023916 LRRC7,PIN1P1 EXON Silent,Silent rs12048343 1 70450024 [T/C] NM_020794 LRRC7 Silent exm67792 1 70488932 [A/G] NM_020794 LRRC7 EXON Missense_V519I rs17097511 1 70501140 [T/C] NM_020794 LRRC7 Silent 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 rs616511 1 70541127 [A/G] NM_020794 LRRC7 Silent rs10493471 1 70543349 [A/G] NM_020794 LRRC7 Silent rs12033206 1 70558599 [A/G] NM_020794 LRRC7 Silent rs826900 1 70565386 [A/G] NM_020794 LRRC7 Silent rs17131215 1 70580058 [T/C] NM_020794 LRRC7 Silent rs641909 1 70587360 [T/C] NM_020794 LRRC7 Silent exm2273327 1 70587581 [T/C] NM_020794 LRRC7 EXON Silent rs6424382 1 70596535 [T/C] exm67909 1 70611496 [A/C] NM_017768 LRRC40 EXON Missense_R599L exm67911 1 70611540 [T/C] NM_017768 LRRC40 EXON Missense_I584M variant.4160 1 70616809 [A/C] NM_017768 LRRC40 Silent exm67922 1 70616817 [A/G] NM_017768 LRRC40 EXON Missense_F504S exm67923 1 70616830 [T/C] NM_017768 LRRC40 EXON Missense_I500V variant.4162 1 70618227 [T/C] NM_017768 LRRC40 Silent rs587567 1 70620329 [T/G] NM_017768 LRRC40 Silent 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 indel.4163 1 70641611 [I/D] NM_017768 LRRC40 EXON exm67960 1 70644596 [A/G] NM_017768 LRRC40 EXON Missense_L248F exm67963 1 70644637 [A/G] NM_017768 LRRC40 EXON Missense_T234I rs6664480 1 70646431 [A/C] NM_017768 LRRC40 Silent exm67967 1 70646822 [T/C] NM_017768 LRRC40 EXON Missense_N203S exm67969 1 70650481 [T/C] NM_017768 LRRC40 EXON Missense_N175S variant.4164 1 70654775 [A/G] NM_017768 LRRC40 EXON Synonymous_D111D 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 rs11581894 1 70682550 [A/G] NM_004768,NM_001190987 SRSF11,SRSF11 Silent,Silent variant.4168 1 70687294 [A/G] NM_004768,NM_001190987 SRSF11,SRSF11 Silent,Silent indel.4169 1 70697933 [I/D] NM_004768,NM_001190987 SRSF11,SRSF11 exm68039 1 70715711 [T/C] NM_004768,NM_001190987 SRSF11,SRSF11 EXON Missense_R367C,Missense_R367C rs10489928 1 70715884 [T/C] NM_004768,NM_001190987 SRSF11,SRSF11 Silent,Silent 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 rs12565719 1 70744507 [A/C] NM_030816 ANKRD13C Silent exm2265017 1 70750558 [A/G] NM_030816 ANKRD13C Silent newrs150473953 1 70761813 [T/C] NM_030816 ANKRD13C EXON Synonymous_T351T rs6686181 1 70762970 [A/G] NM_030816 ANKRD13C Silent exm68078 1 70781186 [T/C] NM_030816 ANKRD13C EXON Missense_R214Q rs6424385 1 70808932 [T/C] NM_030816 ANKRD13C Silent rs10889868 1 70816563 [A/G] NM_030816 ANKRD13C Silent exm68088 1 70819679 [A/C] NM_030816 ANKRD13C EXON Missense_G138V exm68096 1 70819802 [T/C] NM_030816 ANKRD13C EXON Missense_G97D indel.4171 1 70820700 [D/I] NM_001031693,NM_001036646,NM_001036645,NR_027404 HHLA3,HHLA3,HHLA3,HHLA3 EXON exm68115 1 70820789 [T/C] NM_001031693,NM_001036646,NM_001036645,NR_027404 HHLA3,HHLA3,HHLA3,HHLA3 EXON Missense_A52V,Missense_A52V,Missense_A52V,Silent variant.4172 1 70820790 [T/C] NM_001031693,NM_001036646,NM_001036645,NR_027404 HHLA3,HHLA3,HHLA3,HHLA3 EXON Synonymous_A52A,Synonymous_A52A,Synonymous_A52A,Silent variant.4173 1 70820791 [A/G] NM_001031693,NM_001036646,NM_001036645,NR_027404 HHLA3,HHLA3,HHLA3,HHLA3 EXON Missense_V53I,Silent,Missense_V53I,Silent exm68116 1 70820794 [T/C] NM_001031693,NM_001036646,NM_001036645,NR_027404 HHLA3,HHLA3,HHLA3,HHLA3 EXON Missense_C54R,Silent,Missense_C54R,Silent variant.4174 1 70820799 [T/G] NM_001031693,NM_001036646,NM_001036645,NR_027404 HHLA3,HHLA3,HHLA3,HHLA3 EXON Silent,Silent,Synonymous_T55T,Silent rs4620474 1 70828536 [T/C] NM_001031693,NM_001036646,NM_001036645,NR_027404 HHLA3,HHLA3,HHLA3,HHLA3 Silent,Silent,Silent,Silent exm68121 1 70832137 [T/C] NM_001031693,NM_001036646,NM_001036645,NR_027404 HHLA3,HHLA3,HHLA3,HHLA3 EXON Synonymous_N57N,Missense_T56M,Missense_R90W,Silent exm68122 1 70832144 [C/G] NM_001031693,NM_001036646,NM_001036645,NR_027404 HHLA3,HHLA3,HHLA3,HHLA3 EXON Missense_G60R,Missense_R58S,Missense_G92A,Silent rs7523188 1 70858435 [A/G] rs664051 1 70869116 [A/G] rs648743 1 70875779 [T/C] exm68129 1 70877113 [A/C] NM_001190463,NM_153742,NM_001902 CTH,CTH,CTH EXON Missense_D5E,Missense_D5E,Missense_D5E rs12030275 1 70877743 [T/C] NM_001190463,NM_153742,NM_001902 CTH,CTH,CTH Silent,Silent,Silent exm68136 1 70881670 [T/C] NM_001190463,NM_153742,NM_001902 CTH,CTH,CTH EXON Missense_T67I,Missense_T67I,Missense_T67I rs1145920 1 70883840 [A/G] NM_001190463,NM_153742,NM_001902 CTH,CTH,CTH Silent,Silent,Silent rs672203 1 70887099 [A/G] NM_001190463,NM_153742,NM_001902 CTH,CTH,CTH Silent,Silent,Silent exm68141 1 70890007 [A/G] NM_001190463,NM_153742,NM_001902 CTH,CTH,CTH EXON Missense_V134M,Silent,Missense_V166M exm68142 1 70890023 [C/G] NM_001190463,NM_153742,NM_001902 CTH,CTH,CTH EXON Missense_G139A,Silent,Missense_G171A exm68147 1 70895478 [A/G] NM_001190463,NM_153742,NM_001902 CTH,CTH,CTH EXON Missense_R165H,Missense_R153H,Missense_R197H exm68152 1 70896038 [T/C] NM_001190463,NM_153742,NM_001902 CTH,CTH,CTH EXON Missense_C197R,Missense_C185R,Missense_C229R rs17131305 1 70896165 [A/G] NM_001190463,NM_153742,NM_001902 CTH,CTH,CTH Silent,Silent,Silent rs663649 1 70897183 [T/G] NM_001190463,NM_153742,NM_001902 CTH,CTH,CTH Silent,Silent,Silent indel.4179 1 70897823 [D/I] NM_001190463,NM_153742,NM_001902 CTH,CTH,CTH EXON exm1874282 1 70899534 [A/G] NM_001190463,NM_153742,NM_001902 CTH,CTH,CTH EXON Missense_E269K,Missense_E257K,Missense_E301K variant.4180 1 70899637 [A/G] NM_001190463,NM_153742,NM_001902 CTH,CTH,CTH Silent,Silent,Silent indel.4182 1 70904382 [D/I] NM_001190463,NM_153742,NM_001902 CTH,CTH,CTH EXON exm1874287 1 70904474 [A/C] NM_001190463,NM_153742,NM_001902 CTH,CTH,CTH EXON Missense_L354I,Missense_L342I,Missense_L386I exm68172 1 70904800 [T/G] NM_001190463,NM_153742,NM_001902 CTH,CTH,CTH EXON Missense_S371I,Missense_S359I,Missense_S403I rs6693082 1 70905674 [T/G] rs12562375 1 70920737 [T/C] exm-rs10458561 1 70921173 [A/G] rs6424388 1 70930788 [A/G] exm2252833 1 70930788 [A/G] rs8179319 1 70934259 [A/G] rs17131315 1 70944520 [T/C] rs527148 1 70948010 [A/G] rs10493474 1 70948788 [A/G] rs2807912 1 70952314 [A/G] rs2807911 1 70954299 [A/G] rs625578 1 70983975 [A/G] rs10889879 1 70986547 [A/G] rs505292 1 70997152 [T/C] rs2651236 1 71001920 [T/G] rs9424945 1 71007926 [A/G] rs582435 1 71010207 [T/C] rs4515743 1 71014024 [T/G] rs4233083 1 71018986 [T/C] rs12410281 1 71019658 [T/C] rs4146541 1 71022862 [T/C] rs10889881 1 71023684 [T/C] rs3121983 1 71028815 [A/G] rs7522196 1 71045066 [A/G] rs11209645 1 71046778 [T/C] rs6689757 1 71067296 [A/G] rs1007630 1 71085728 [T/C] rs8179355 1 71093805 [A/C] rs2421794 1 71098437 [T/C] rs2152119 1 71100213 [A/G] rs1932048 1 71100726 [A/G] rs6686879 1 71103392 [T/C] rs10889884 1 71120020 [T/C] rs2782763 1 71142202 [T/C] rs11209673 1 71144279 [A/G] rs2820526 1 71153714 [A/C] rs2782792 1 71180389 [T/G] rs12080162 1 71194759 [A/C] rs2421787 1 71195538 [A/G] rs1932063 1 71197126 [A/G] rs7523542 1 71198580 [A/C] rs12563671 1 71210705 [T/G] rs1591385 1 71215084 [A/G] rs12033260 1 71220683 [T/G] rs11209689 1 71229637 [T/G] rs998550 1 71230547 [A/G] rs10889889 1 71250352 [A/C] rs2257772 1 71275174 [A/G] rs11209700 1 71288661 [T/C] rs7534636 1 71301892 [T/C] rs11810467 1 71305078 [T/C] indel.4183 1 71318528 [D/I] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON rs1327460 1 71325044 [T/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs7530738 1 71327463 [A/G] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs12119442 1 71331220 [A/G] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs17131476 1 71347417 [T/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs4649932 1 71348176 [A/G] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs11209707 1 71351785 [T/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs17131479 1 71357687 [C/G] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs4998697 1 71358190 [T/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent exm2252854 1 71365018 [T/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs10889896 1 71368281 [A/G] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs875727 1 71373738 [T/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs17482751 1 71375772 [A/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs602383 1 71391646 [T/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent rs622721 1 71413324 [T/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent indel.4185 1 71418632 [D/I] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON exm68191 1 71418672 [T/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,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] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,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] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_L369L,Silent rs661000 1 71421564 [A/G] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs977214 1 71426260 [A/G] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17090700 1 71439528 [A/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm68212 1 71440025 [A/G] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Missense_P375L,Silent,Missense_P375L,Missense_P375L exm68214 1 71440052 [T/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Missense_N366S,Silent,Missense_N366S,Missense_N366S rs2072947 1 71440217 [T/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs726764 1 71443399 [T/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs879424 1 71443992 [A/G] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2206343 1 71449130 [T/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2300164 1 71454352 [T/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs5682 1 71476872 [A/G] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2233789 1 71478109 [A/G] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 EXON Silent,Missense_T319M,Silent,Silent,Missense_T319M,Missense_T319M,Missense_T319M,Missense_T319M,Missense_T319M,Missense_T319M rs8179390 1 71494365 [A/G] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2300179 1 71499286 [A/G] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2817864 1 71503105 [T/G] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2817867 1 71512160 [T/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719,NM_198715 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm68246 1 71513137 [T/C] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719,NM_198715,NR_038420 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,ZRANB2-AS1 EXON Silent,Missense_G42R,Silent,Silent,Missense_G42R,Missense_G42R,Missense_G42R,Missense_G42R,Missense_G42R,Missense_G42R,Silent exm68248 1 71513160 [C/G] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719,NM_198715,NR_038420 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,ZRANB2-AS1 EXON Silent,Missense_R34P,Silent,Silent,Missense_R34P,Missense_R34P,Missense_R34P,Missense_R34P,Missense_R34P,Missense_R34P,Silent exm68250 1 71513163 [T/G] NR_028293,NM_198717,NR_028292,NR_028294,NM_198716,NM_198714,NM_198718,NM_001126044,NM_198719,NM_198715,NR_038420 PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,PTGER3,ZRANB2-AS1 EXON Silent,Missense_A33E,Silent,Silent,Missense_A33E,Missense_A33E,Missense_A33E,Missense_A33E,Missense_A33E,Missense_A33E,Silent exm68256 1 71530780 [A/G] NR_038420,NM_005455,NM_203350 ZRANB2-AS1,ZRANB2,ZRANB2 EXON Silent,Silent,Missense_R324C exm68273 1 71534974 [T/C] NM_005455,NM_203350 ZRANB2,ZRANB2 EXON Missense_R252H,Missense_R252H exm68276 1 71534986 [T/C] NM_005455,NM_203350 ZRANB2,ZRANB2 EXON Missense_R248H,Missense_R248H exm1875922 1 71536564 [T/C] NM_005455,NM_203350 ZRANB2,ZRANB2 EXON Missense_H210R,Missense_H210R rs9425055 1 71541003 [T/C] NM_005455,NM_203350 ZRANB2,ZRANB2 Silent,Silent rs12035210 1 71545970 [A/G] NM_005455,NM_203350 ZRANB2,ZRANB2 Silent,Silent rs7531139 1 71556167 [A/G] NR_046217 ZRANB2-AS2 Silent rs12409826 1 71560350 [A/G] NR_046217 ZRANB2-AS2 Silent rs4272572 1 71561084 [A/G] NR_046217 ZRANB2-AS2 Silent rs1418449 1 71632687 [T/G] NR_046217 ZRANB2-AS2 Silent rs10493482 1 71633795 [T/C] NR_046217 ZRANB2-AS2 Silent rs3934401 1 71640908 [A/G] NR_046217 ZRANB2-AS2 Silent rs7513433 1 71679679 [T/C] NR_046217 ZRANB2-AS2 Silent rs2796188 1 71694861 [A/G] NR_046217 ZRANB2-AS2 Silent rs1891417 1 71695806 [A/G] NR_046217 ZRANB2-AS2 Silent rs10493483 1 71696940 [A/G] NR_046217 ZRANB2-AS2 Silent rs6673749 1 71734612 [T/C] rs962231 1 71740028 [A/G] rs12749022 1 71750361 [A/G] exm-rs6695355 1 71762203 [A/G] rs6695355 1 71762203 [A/G] rs17091107 1 71777548 [T/G] rs1506452 1 71781585 [A/G] rs2174602 1 71799403 [A/G] rs11209773 1 71823940 [A/G] rs1517754 1 71840498 [T/C] rs12127469 1 71849037 [A/C] exm2263860 1 71849037 [A/C] exm68307 1 71873154 [T/G] NM_173808 NEGR1 EXON Missense_Y347S var_1_71873303 1 71873303 [A/G] NM_173808 NEGR1 Silent rs7550923 1 71920314 [A/G] NM_173808 NEGR1 Silent rs977145 1 71929289 [T/C] NM_173808 NEGR1 Silent rs357221 1 71960291 [A/G] NM_173808 NEGR1 Silent rs357237 1 71996090 [A/C] NM_173808 NEGR1 Silent rs7518830 1 72005110 [A/G] NM_173808 NEGR1 Silent rs357233 1 72012933 [A/G] NM_173808 NEGR1 Silent rs357210 1 72025716 [T/C] NM_173808 NEGR1 Silent rs1335223 1 72038497 [T/C] NM_173808 NEGR1 Silent rs1334005 1 72058405 [T/C] NM_173808 NEGR1 Silent exm68319 1 72058610 [T/C] NM_173808 NEGR1 EXON Missense_S277N exm-rs10493485 1 72071129 [A/T] NM_173808 NEGR1 Silent rs1762732 1 72080604 [T/C] NM_173808 NEGR1 Silent rs6696052 1 72090075 [A/G] NM_173808 NEGR1 Silent exm2268705 1 72098811 [T/C] NM_173808 NEGR1 Silent rs1041676 1 72104447 [T/C] NM_173808 NEGR1 Silent rs954299 1 72121585 [A/C] NM_173808 NEGR1 Silent rs10889924 1 72136346 [A/C] NM_173808 NEGR1 Silent variant.4188 1 72163755 [A/C] NM_173808 NEGR1 EXON Nonsense_Y201X rs4147264 1 72206799 [T/C] NM_173808 NEGR1 Silent rs17091704 1 72208917 [T/C] NM_173808 NEGR1 Silent rs10789324 1 72217553 [T/G] NM_173808 NEGR1 Silent rs1599179 1 72234070 [A/G] NM_173808 NEGR1 Silent rs12024388 1 72253577 [T/C] NM_173808 NEGR1 Silent rs531071 1 72271264 [A/G] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent exm-rs12141391 1 72274473 [A/C] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs546741 1 72289671 [A/G] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs6683448 1 72299344 [T/C] NM_173808,NR_046218 NEGR1,NEGR1-IT1 Silent,Silent rs591540 1 72331815 [T/G] NM_173808 NEGR1 Silent rs648556 1 72352237 [A/G] NM_173808 NEGR1 Silent rs1765607 1 72370307 [T/C] NM_173808 NEGR1 Silent rs7527501 1 72391457 [T/C] NM_173808 NEGR1 Silent variant.4189 1 72400757 [A/C] NM_173808 NEGR1 Silent rs2768395 1 72402030 [T/C] NM_173808 NEGR1 Silent rs2256913 1 72402880 [A/G] NM_173808 NEGR1 Silent exm2268706 1 72410812 [T/C] NM_173808 NEGR1 Silent rs7513441 1 72424117 [A/G] NM_173808 NEGR1 Silent rs12024769 1 72428834 [T/C] NM_173808 NEGR1 Silent rs10518394 1 72442018 [T/C] NM_173808 NEGR1 Silent rs6661979 1 72458685 [T/C] NM_173808 NEGR1 Silent rs2029155 1 72458866 [T/C] NM_173808 NEGR1 Silent rs1954600 1 72469148 [T/C] NM_173808 NEGR1 Silent rs3102906 1 72488815 [A/G] NM_173808 NEGR1 Silent rs12023418 1 72492583 [A/G] NM_173808 NEGR1 Silent rs3102918 1 72499082 [T/C] NM_173808 NEGR1 Silent rs3128557 1 72499912 [A/C] NM_173808 NEGR1 Silent rs1026997 1 72516287 [T/C] NM_173808 NEGR1 Silent rs1486084 1 72520941 [T/C] NM_173808 NEGR1 Silent rs2821267 1 72531925 [A/G] NM_173808 NEGR1 Silent rs988421 1 72549836 [T/C] NM_173808 NEGR1 Silent rs1486091 1 72571364 [T/C] NM_173808 NEGR1 Silent rs2821248 1 72575560 [A/G] NM_173808 NEGR1 Silent rs2821236 1 72595125 [T/C] NM_173808 NEGR1 Silent rs12755450 1 72628347 [T/C] NM_173808 NEGR1 Silent rs2821296 1 72629795 [T/C] NM_173808 NEGR1 Silent rs2298152 1 72654730 [A/G] NM_173808 NEGR1 Silent rs1194269 1 72703860 [A/G] NM_173808 NEGR1 Silent rs9988578 1 72723479 [T/C] NM_173808 NEGR1 Silent rs2000228 1 72723863 [T/C] NM_173808 NEGR1 Silent rs11209939 1 72724012 [T/G] NM_173808 NEGR1 Silent rs3101340 1 72744144 [A/G] 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 rs3101338 1 72750353 [A/C] exm-rs2568958 1 72765116 [A/G] rs2815752 1 72812440 [A/G] exm-rs2815752 1 72812440 [A/G] rs2012697 1 72819612 [T/C] rs990871 1 72823713 [T/C] rs2613507 1 72834503 [A/G] rs12123766 1 72861847 [A/G] rs7535539 1 72913499 [A/C] rs782207 1 72953251 [A/G] exm2263825 1 72954611 [A/C] rs782228 1 72975877 [T/C] rs782230 1 72987960 [A/G] rs1775367 1 72991433 [T/C] rs1775370 1 72992856 [T/C] rs1445583 1 73012228 [A/C] rs2255606 1 73034036 [T/C] rs2244695 1 73035775 [A/G] rs4498754 1 73075423 [A/C] exm2263861 1 73090344 [A/C] rs17093152 1 73096321 [A/G] rs11209988 1 73100055 [A/G] rs12030081 1 73111887 [A/C] kgp15754827 1 73114150 [A/C] rs12072171 1 73197081 [T/C] rs2422280 1 73203025 [T/C] rs11210049 1 73221921 [T/C] rs11210055 1 73230347 [T/C] rs2841188 1 73231948 [A/G] exm2264856 1 73281986 [A/G] rs11210072 1 73286806 [T/C] rs2841193 1 73311597 [T/C] rs1405062 1 73317559 [A/G] rs2692869 1 73327954 [T/C] rs2692843 1 73361805 [T/G] rs6668452 1 73386470 [A/C] rs6660036 1 73390986 [A/G] rs4434807 1 73401801 [T/C] rs7536364 1 73408437 [A/G] rs6424507 1 73408983 [T/C] kgp11812239 1 73412289 [T/G] kgp2501539 1 73426137 [T/G] rs10889998 1 73484880 [A/G] rs12119161 1 73489496 [A/G] rs12734738 1 73492303 [T/G] rs11210105 1 73497953 [T/C] kgp6521843 1 73501066 [T/G] rs7512691 1 73552927 [T/C] rs10749813 1 73557945 [A/G] rs11210123 1 73559787 [T/C] kgp9172377 1 73560595 [A/C] rs6424522 1 73614563 [T/C] rs7523688 1 73625777 [A/G] exm2268901 1 73639751 [T/C] rs11210178 1 73658061 [T/C] rs10890018 1 73662169 [A/G] rs6692884 1 73669845 [A/G] rs4384176 1 73670808 [A/G] kgp8152830 1 73676969 [T/C] rs4498757 1 73742019 [T/C] rs6684341 1 73744843 [T/C] rs11210201 1 73766431 [T/G] rs1885246 1 73793499 [T/C] kgp15474236 1 73798483 [T/C] kgp8604590 1 73799968 [T/G] exm2264857 1 73882478 [A/G] rs1475064 1 73882478 [A/G] rs1475065 1 73882880 [A/G] rs4113050 1 73910055 [T/C] rs501899 1 73920352 [T/C] rs561076 1 73927488 [A/G] rs12140865 1 73932886 [A/C] rs11210259 1 73935251 [A/G] rs1501483 1 73945480 [T/C] rs9425120 1 73951515 [T/C] rs4384177 1 73982084 [T/G] rs1501488 1 73996208 [T/C] rs2062664 1 74017178 [T/C] rs6669337 1 74022034 [A/C] rs12133927 1 74043705 [T/C] rs4649988 1 74048649 [T/C] rs7546041 1 74055240 [A/G] rs2341263 1 74083035 [T/C] rs1576429 1 74092495 [A/G] rs6680131 1 74106106 [A/G] rs9425123 1 74129905 [A/G] rs4617355 1 74138765 [A/G] rs11210325 1 74139105 [T/C] rs9425014 1 74145078 [A/G] rs2880289 1 74151316 [A/G] rs4291455 1 74166048 [T/C] rs12145301 1 74170796 [A/G] rs1497840 1 74174778 [A/G] rs7515492 1 74183738 [T/C] rs10789377 1 74200925 [A/G] rs12058491 1 74202064 [T/C] rs11210335 1 74204559 [A/C] rs17094286 1 74208960 [T/C] rs11210343 1 74220796 [A/G] rs6680989 1 74228366 [A/G] rs1874731 1 74249035 [T/C] rs4147207 1 74251125 [T/C] rs1353671 1 74260853 [T/C] rs1340429 1 74264228 [A/G] rs10493524 1 74274122 [A/C] rs10890079 1 74286408 [T/C] rs1948615 1 74298228 [T/C] rs2016423 1 74298254 [T/G] rs12401808 1 74299658 [T/C] rs1454610 1 74321238 [A/G] rs6672527 1 74338530 [T/C] exm-rs11210359 1 74339167 [A/G] rs2014651 1 74345867 [A/G] rs11210364 1 74350248 [A/G] rs1619291 1 74381089 [T/C] rs1340425 1 74385848 [T/C] rs2733262 1 74396896 [T/C] rs10890101 1 74445584 [T/C] rs9662322 1 74452323 [T/G] rs11210389 1 74454701 [A/C] rs17588031 1 74465302 [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 variant.4191 1 74506991 [A/C] NM_001105659 LRRIQ3 EXON Nonsense_E542X exm68384 1 74507042 [A/G] NM_001105659 LRRIQ3 EXON Missense_R525C exm68385 1 74507159 [T/C] NM_001105659 LRRIQ3 EXON Missense_V486I indel.4192 1 74507218 [D/I] NM_001105659 LRRIQ3 EXON exm68387 1 74507233 [A/C] NM_001105659 LRRIQ3 EXON Missense_L461W exm68388 1 74507249 [A/C] NM_001105659 LRRIQ3 EXON Missense_A456S variant.4193 1 74507267 [A/G] NM_001105659 LRRIQ3 EXON Nonsense_R450X 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 rs6424572 1 74513945 [T/G] NM_001105659 LRRIQ3 Silent rs1072935 1 74522280 [A/G] NM_001105659 LRRIQ3 Silent exm68401 1 74540389 [T/C] NM_001105659 LRRIQ3 EXON Missense_D318G exm68403 1 74540465 [A/G] NM_001105659 LRRIQ3 EXON Missense_Y293H rs17094802 1 74540820 [A/G] NM_001105659 LRRIQ3 Silent rs11210405 1 74547515 [T/C] NM_001105659 LRRIQ3 Silent rs10789387 1 74560411 [A/G] NM_001105659 LRRIQ3 Silent rs11210407 1 74560603 [A/G] NM_001105659 LRRIQ3 Silent rs4650246 1 74561386 [A/C] NM_001105659 LRRIQ3 Silent exm68405 1 74575139 [A/C] NM_001105659 LRRIQ3 EXON Missense_L269R exm68408 1 74575157 [T/C] NM_001105659 LRRIQ3 EXON Missense_G263E rs1601153 1 74592761 [T/G] NM_001105659 LRRIQ3 Silent exm68413 1 74621445 [A/G] NM_001105659 LRRIQ3 EXON Missense_R227C exm68416 1 74621499 [A/T] NM_001105659 LRRIQ3 EXON Missense_I209F rs1333032 1 74644454 [A/G] NM_001105659 LRRIQ3 Silent exm68422 1 74648257 [A/G] NM_001105659 LRRIQ3 EXON Nonsense_R180X indel.4200 1 74648324 [I/D] NM_001105659 LRRIQ3 EXON exm68425 1 74648325 [T/C] NM_001105659 LRRIQ3 EXON Missense_H157R variant.4201 1 74648348 [T/C] NM_001105659 LRRIQ3 EXON Nonsense_W149X 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 rs11806946 1 74663709 [A/G] NM_001105659 LRRIQ3 EXON Silent 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 variant.4210 1 74665520 [A/G] 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 var_1_74671167 1 74671167 [I/D] NM_001199328,NM_001112808,NM_003838,NM_001199329,NM_001199327 FPGT,FPGT-TNNI3K,FPGT,FPGT,FPGT-TNNI3K EXON 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 rs485929 1 74678285 [A/G] NM_001112808,NM_001199327 FPGT-TNNI3K,FPGT-TNNI3K 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 rs481387 1 74710450 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent variant.4217 1 74715186 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_E166X,Nonsense_E166X,Nonsense_E65X variant.4218 1 74716406 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_R197X,Nonsense_R197X,Nonsense_R96X 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 rs514012 1 74737081 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent indel.4219 1 74737318 [D/I] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON variant.4220 1 74737330 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_Q229X,Nonsense_Q229X,Nonsense_Q128X 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 variant.4221 1 74737397 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs11210445 1 74756402 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs6684409 1 74762198 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs486784 1 74787647 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs17095146 1 74794119 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent 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 newrs56257331 1 74808573 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_R345X,Nonsense_R345X,Nonsense_R244X variant.4224 1 74808579 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_G347X,Nonsense_G347X,Nonsense_G246X 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 indel.4226 1 74808813 [I/D] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON exm68572 1 74818977 [C/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_D421E,Missense_D421E,Missense_D320E newrs139261072 1 74819662 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent 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 variant.4230 1 74833027 [T/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent variant.4232 1 74833650 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent newrs41289190 1 74835124 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_R609X,Nonsense_R609X,Nonsense_R508X 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 indel.4234 1 74835231 [I/D] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON variant.4235 1 74835270 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent exm68618 1 74836076 [C/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_S692T,Missense_S692T,Missense_S591T variant.4237 1 74836078 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent exm2265018 1 74861767 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs2203369 1 74885754 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent indel.4238 1 74902164 [I/D] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON newrs145440221 1 74902210 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Synonymous_G727G,Synonymous_G727G,Synonymous_G626G variant.4240 1 74902215 [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 newrs140657235 1 74905306 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Missense_A772T,Missense_A772T,Missense_A671T variant.4242 1 74905308 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent variant.4243 1 74905311 [A/G] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent rs1022915 1 74907002 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K Silent,Silent,Silent 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 variant.4245 1 74929211 [T/C] NM_001112808,NM_001199327,NM_015978 FPGT-TNNI3K,FPGT-TNNI3K,TNNI3K EXON Nonsense_R801X,Nonsense_R801X,Nonsense_R700X rs612695 1 74934996 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs3765674 1 74937749 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent exm2263826 1 74939570 [A/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs649058 1 74941293 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs9326113 1 74948186 [A/G] 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 rs17095501 1 74983721 [T/C] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs1514175 1 74991644 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent exm-rs1514175 1 74991644 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent var_1_75005916 1 75005916 [A/G] NM_001112808,NM_015978 FPGT-TNNI3K,TNNI3K Silent,Silent rs6604871 1 75008008 [T/C] 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 rs7541513 1 75014195 [A/G] rs1443372 1 75019436 [A/G] exm68692 1 75036783 [T/C] NM_001002912 C1orf173 EXON Silent exm68694 1 75036812 [T/C] NM_001002912 C1orf173 EXON Missense_V1528M variant.4251 1 75036863 [A/G] NM_001002912 C1orf173 EXON Nonsense_Q1511X indel.4252 1 75036873 [I/D] NM_001002912 C1orf173 EXON 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 indel.4254 1 75037272 [I/D] NM_001002912 C1orf173 EXON 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 var_1_75038572 1 75038573 [D/I] NM_001002912 C1orf173 EXON 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 variant.4263 1 75038924 [A/C] NM_001002912 C1orf173 EXON Nonsense_E824X 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 rs2305549 1 75055419 [T/C] NM_001002912 C1orf173 EXON Missense_H691R 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 variant.4266 1 75055766 [T/C] NM_001002912 C1orf173 Silent variant.4267 1 75065374 [T/C] NM_001002912 C1orf173 Silent 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 variant.4269 1 75065460 [A/G] NM_001002912 C1orf173 EXON Nonsense_Q549X exm68879 1 75065525 [A/G] NM_001002912 C1orf173 EXON Missense_P527L rs10890137 1 75071003 [T/C] NM_001002912 C1orf173 Silent rs696702 1 75072038 [A/G] NM_001002912 C1orf173 Silent 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 variant.4270 1 75078422 [A/G] NM_001002912 C1orf173 EXON Nonsense_Q358X 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 variant.4275 1 75114901 [T/C] NM_001002912 C1orf173 Silent rs730645 1 75118172 [T/C] NM_001002912 C1orf173 Silent rs564725 1 75121016 [T/C] NM_001002912 C1orf173 Silent rs12239912 1 75130289 [T/C] NM_001002912 C1orf173 Silent rs17095739 1 75147840 [T/C] rs10493547 1 75151932 [A/G] rs696672 1 75155271 [A/G] rs510705 1 75161128 [T/C] exm2268707 1 75166623 [T/C] rs6662846 1 75170143 [A/C] kgp6377218 1 75171182 [A/G] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp507955 1 75171211 [A/G] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp6662441 1 75171550 [T/A] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent rs17459 1 75171751 [T/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp15658119 1 75171784 [A/T] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp15427472 1 75171844 [G/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp15169674 1 75171938 [A/G] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent exm68962 1 75172042 [T/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_E173K,Missense_E310K,Missense_E310K,Missense_E276K exm68966 1 75172131 [T/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_Q143R,Missense_Q280R,Missense_Q280R,Missense_Q246R kgp15427617 1 75172139 [T/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Synonymous_E140E,Synonymous_E277E,Synonymous_E277E,Synonymous_E243E variant.4276 1 75172143 [T/G] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent newrs145799649 1 75172583 [T/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Synonymous_K139K,Synonymous_K276K,Synonymous_K276K,Synonymous_K242K indel.4279 1 75172594 [I/D] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON exm68970 1 75172620 [A/G] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_S127L,Missense_S264L,Missense_S264L,Missense_S230L newrs142760907 1 75172642 [A/G] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Nonsense_R120X,Nonsense_R257X,Nonsense_R257X,Nonsense_R223X rs17552114 1 75172652 [T/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Synonymous_E116E,Synonymous_E253E,Synonymous_E253E,Synonymous_E219E rs4650281 1 75173051 [T/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent kgp15915289 1 75175797 [A/G] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Synonymous_Y68Y,Synonymous_Y205Y,Synonymous_Y205Y,Synonymous_Y205Y variant.4282 1 75175835 [A/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Nonsense_G56X,Nonsense_G193X,Nonsense_G193X,Nonsense_G193X indel.4283 1 75175842 [I/D] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON exm68989 1 75175865 [T/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_E46K,Missense_E183K,Missense_E183K,Missense_E183K exm68990 1 75175886 [T/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Missense_I39V,Missense_I176V,Missense_I176V,Missense_I176V rs7522428 1 75178360 [T/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent exm68998 1 75184954 [A/G] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Missense_F123L,Missense_F123L,Missense_F123L exm69000 1 75184990 [T/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Missense_D111N,Missense_D111N,Missense_D111N exm69004 1 75185057 [T/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent variant.4287 1 75188801 [A/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent exm69010 1 75188902 [T/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Missense_R55H,Missense_R55H,Missense_R55H exm69013 1 75188918 [T/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Missense_V50M,Missense_V50M,Missense_V50M variant.4288 1 75190390 [T/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ Silent,Silent,Silent,Silent variant.4289 1 75190433 [A/G] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Nonsense_R25X,Nonsense_R25X,Nonsense_R25X kgp2662069 1 75190452 [T/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Synonymous_G18G,Synonymous_G18G,Synonymous_G18G kgp9120456 1 75198740 [A/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp15455600 1 75198788 [A/C] NM_001134759,NM_001130042,NM_001889,NM_001130043 CRYZ,CRYZ,CRYZ,CRYZ EXON Silent,Silent,Silent,Silent kgp15121168 1 75198967 [A/G] NM_001134759,NM_001130042,NM_001889,NM_001130043,NM_001162916,NM_138467,NR_027962 CRYZ,CRYZ,CRYZ,CRYZ,TYW3,TYW3,TYW3 EXON Silent,Silent,Silent,Silent,Synonymous_Q13Q,Synonymous_Q13Q,Silent exm69026 1 75199023 [A/C] NM_001134759,NM_001130042,NM_001889,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 rs11538281 1 75204447 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON Silent,Missense_R110Q,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 rs1133891 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 variant.4291 1 75229576 [A/G] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 Silent,Silent,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 indel.4292 1 75229679 [D/I] NM_001162916,NM_138467,NR_027962 TYW3,TYW3,TYW3 EXON rs3931020 1 75235317 [T/C] rs12125889 1 75241971 [T/C] rs7547190 1 75252764 [T/C] rs277357 1 75290369 [T/C] rs11161851 1 75298782 [T/C] rs277367 1 75300318 [A/C] rs17096072 1 75301386 [T/C] rs1327080 1 75311357 [A/G] rs1409787 1 75332745 [T/C] rs7367789 1 75357094 [A/G] rs6593547 1 75362429 [T/G] rs1413994 1 75373403 [A/G] rs12569094 1 75380989 [T/G] rs10782637 1 75403587 [A/C] rs3845358 1 75449592 [A/C] rs3856036 1 75464592 [A/C] rs12081831 1 75471898 [T/C] rs795576 1 75473978 [T/C] rs12089365 1 75486214 [A/G] rs7531164 1 75488437 [A/C] rs1581586 1 75502014 [A/C] rs7541725 1 75549806 [T/C] 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 rs6593568 1 75637919 [A/G] rs11162738 1 75665476 [T/C] variant.4294 1 75669417 [A/G] NM_001130058 SLC44A5 EXON Nonsense_Q717X newrs143081523 1 75672405 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent exm69115 1 75677192 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Missense_V670I,Missense_V670I variant.4296 1 75679385 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent variant.4297 1 75683551 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Missense_R542C,Missense_R542C 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 rs627494 1 75686746 [T/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent exm69153 1 75693501 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Missense_R299C,Missense_R299C rs10493565 1 75699771 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Synonymous_I251I,Synonymous_I251I variant.4298 1 75702672 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Missense_I247T,Missense_I247T exm69173 1 75708628 [C/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Missense_D138E,Missense_D138E rs649352 1 75714554 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent exm2253106 1 75716925 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Synonymous_V105V,Synonymous_V105V rs604745 1 75722527 [A/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs623850 1 75766186 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs12127347 1 75779404 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent exm2268902 1 75785718 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs2657206 1 75794538 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent exm1894957 1 75805301 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Missense_Y23H,Missense_Y23H rs1700909 1 75806045 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent exm2264859 1 75818341 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs1249837 1 75819102 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs1249849 1 75830438 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs1249810 1 75834454 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent newrs79353172 1 75862263 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent exm69196 1 75862292 [T/A] NM_001130058,NM_152697 SLC44A5,SLC44A5 EXON Missense_T10S,Missense_T10S rs1249813 1 75862526 [A/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs1249794 1 75876192 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent exm-rs1857353 1 75913826 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs6676696 1 75917304 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs10874305 1 75937429 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs11163461 1 75941966 [A/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs12738260 1 75966345 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs13373826 1 75970795 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs6658825 1 75974819 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs1571983 1 75982426 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs184159 1 75998695 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs6670304 1 76023350 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs211699 1 76025003 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs211762 1 76032904 [A/G] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs11578532 1 76038320 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs396106 1 76055098 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs6662665 1 76068279 [T/C] NM_001130058,NM_152697 SLC44A5,SLC44A5 Silent,Silent rs6593584 1 76080162 [A/G] rs6675067 1 76088392 [A/C] exm-rs211718 1 76106675 [T/C] rs211718 1 76106675 [T/C] rs1739897 1 76116062 [T/A] rs440826 1 76120300 [T/C] rs814854 1 76133823 [A/G] rs1535740 1 76134765 [A/C] rs12079369 1 76137632 [T/C] rs11164042 1 76178440 [A/G] rs1251079 1 76189445 [T/C] rs1250880 1 76196602 [T/C] NM_000016,NM_001127328 ACADM,ACADM Silent,Silent 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 variant.4303 1 76198596 [T/C] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_P92L,Missense_P96L variant.4304 1 76198734 [A/C] NM_000016,NM_001127328 ACADM,ACADM Silent,Silent exm2253134 1 76199277 [A/C] NM_000016,NM_001127328 ACADM,ACADM EXON Synonymous_T117T,Synonymous_T121T indel.4306 1 76200514 [D/I] NM_000016,NM_001127328 ACADM,ACADM EXON exm69239 1 76205722 [T/G] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_A176S,Missense_A180S var_1_76205796 1 76205796 [A/G] NM_000016,NM_001127328 ACADM,ACADM Silent,Silent variant.4311 1 76211507 [T/C] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_R206C,Missense_R210C exm69249 1 76211557 [A/C] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_F222L,Missense_F226L newrs149678400 1 76211574 [A/C] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_T228N,Missense_T232N rs1146581 1 76213024 [T/G] NM_000016,NM_001127328 ACADM,ACADM Silent,Silent 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 var_1_76215242 1 76215242 [A/G] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_V283I,Missense_V287I indel.4318 1 76226845 [D/I] NM_000016,NM_001127328 ACADM,ACADM EXON exm69261 1 76226846 [A/G] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_K329E,Missense_K333E newrs148207467 1 76226906 [T/C] NM_000016,NM_001127328 ACADM,ACADM EXON Nonsense_R349X,Nonsense_R353X newrs150310121 1 76226946 [A/G] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_G362E,Missense_G366E exm69265 1 76226952 [T/C] NM_000016,NM_001127328 ACADM,ACADM EXON Missense_I364T,Missense_I368T rs11549022 1 76227022 [A/G] NM_000016,NM_001127328 ACADM,ACADM EXON Synonymous_V387V,Synonymous_V391V variant.4324 1 76251964 [T/G] NR_073562,NM_004582 RABGGTB,RABGGTB Silent,Silent rs1146634 1 76252011 [A/G] NR_073562,NM_004582 RABGGTB,RABGGTB Silent,Silent exm2253141 1 76253229 [T/A] NR_073562,NM_004582 RABGGTB,RABGGTB EXON Silent,Synonymous_T17T indel.4325 1 76255707 [I/D] NR_073562,NM_004582 RABGGTB,RABGGTB EXON 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 rs5745325 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 variant.4330 1 76272831 [A/G] NM_002440 MSH4 Silent rs5745343 1 76273805 [T/C] NM_002440 MSH4 Silent rs1144333 1 76275100 [A/G] NM_002440 MSH4 Silent rs12024645 1 76284395 [A/G] NM_002440 MSH4 Silent exm69371 1 76288152 [T/C] NM_002440 MSH4 EXON Nonsense_R350X exm69372 1 76288193 [A/T] NM_002440 MSH4 EXON Missense_E363D rs2172507 1 76331320 [T/C] NM_002440 MSH4 Silent 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 indel.4337 1 76349332 [D/I] NM_002440 MSH4 EXON indel.4339 1 76349472 [D/I] NM_002440 MSH4 EXON exm69419 1 76355026 [A/C] NM_002440 MSH4 EXON Nonsense_S733X rs1001160 1 76358591 [A/C] NM_002440 MSH4 Silent 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 rs6687882 1 76364825 [A/C] NM_002440 MSH4 Silent exm69443 1 76378459 [T/C] NM_002440 MSH4 EXON Nonsense_R900X exm69444 1 76378502 [A/G] NM_002440 MSH4 EXON Missense_S914N rs10782582 1 76383297 [A/G] 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 variant.4347 1 76397575 [A/C] NM_080868,NR_026546 ASB17,ASB17 Silent,Silent exm69468 1 76397581 [T/C] NM_080868,NR_026546 ASB17,ASB17 EXON Missense_I132M,Silent indel.4348 1 76397780 [I/D] NM_080868,NR_026546 ASB17,ASB17 EXON exm69478 1 76397972 [T/C] NM_080868,NR_026546 ASB17,ASB17 EXON Missense_S2N,Silent rs6593520 1 76398305 [A/G] rs1770886 1 76402145 [A/G] rs1251543 1 76441220 [T/C] rs12084383 1 76451288 [A/G] rs1770878 1 76456329 [T/C] rs1251531 1 76469334 [A/G] rs11162065 1 76474354 [T/C] exm-rs12753569 1 76484014 [T/G] rs6703034 1 76485783 [T/C] rs1370714 1 76497033 [T/C] rs11162070 1 76499313 [T/C] rs17097968 1 76501151 [A/G] rs10493579 1 76503195 [T/C] rs1251484 1 76504146 [T/C] rs17097991 1 76506666 [A/G] rs1013629 1 76513759 [T/C] rs11800149 1 76534883 [A/G] rs1251467 1 76536649 [T/C] rs1251578 1 76550721 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs1144346 1 76552475 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs289692 1 76556292 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs289679 1 76569151 [A/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs10493583 1 76570926 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs17098119 1 76585643 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs11162084 1 76589102 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs11162086 1 76601214 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs915403 1 76602605 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs4245647 1 76610257 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs418644 1 76610397 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs1414406 1 76628659 [A/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs11162094 1 76645080 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs4949697 1 76652957 [T/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs923246 1 76658460 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs517036 1 76680525 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs573657 1 76697767 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs490570 1 76700571 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs472536 1 76714019 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs536811 1 76719571 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs4949624 1 76732617 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs6695042 1 76739856 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs11162112 1 76745026 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs12131613 1 76746406 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs17098538 1 76746909 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs11162113 1 76749527 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs1537783 1 76752116 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs4949626 1 76755492 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs6701166 1 76771114 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent exm-rs10873876 1 76772328 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs3884182 1 76774201 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs6681765 1 76777065 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent variant.4350 1 76779506 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 EXON Missense_A12V,Missense_A12V rs9437421 1 76786084 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs10493591 1 76796785 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs942699 1 76820435 [A/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs4638174 1 76824240 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs12071740 1 76832860 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs12032409 1 76833594 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs12239582 1 76837237 [A/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs7339997 1 76840373 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs6688662 1 76842133 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs1925359 1 76852740 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs11162148 1 76870699 [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 variant.4352 1 76877777 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 EXON Nonsense_R100X,Nonsense_R100X 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 rs2392038 1 76879210 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs7529530 1 76890999 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs6688867 1 76898576 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs4949718 1 76899464 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs12742405 1 76907906 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs7546379 1 76910399 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs7413797 1 76927674 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs7544496 1 76931051 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs6691403 1 76934790 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent exm2265019 1 76939676 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs12075814 1 76945339 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs4949632 1 76976522 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs188789 1 76979428 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs12749279 1 76980646 [T/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs423480 1 76985313 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs315079 1 77000914 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs172714 1 77015113 [T/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs17099155 1 77019986 [T/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs170261 1 77020803 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs315049 1 77023273 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs315014 1 77033959 [A/C] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs436806 1 77040188 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs11162180 1 77041553 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs7513970 1 77041694 [A/G] NM_001160011,NM_152996 ST6GALNAC3,ST6GALNAC3 Silent,Silent rs12117865 1 77048617 [T/C] NM_152996 ST6GALNAC3 Silent rs315034 1 77051174 [A/G] NM_152996 ST6GALNAC3 Silent rs2647389 1 77072458 [T/C] NM_152996 ST6GALNAC3 Silent exm69523 1 77093180 [A/C] NM_152996 ST6GALNAC3 EXON Missense_L223I rs1184626 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 rs627873 1 77093530 [A/G] NM_152996 ST6GALNAC3 Silent 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 rs2349044 1 77104773 [A/G] rs1925415 1 77109465 [T/C] rs11162187 1 77132763 [T/C] rs689423 1 77138904 [A/G] rs10873899 1 77146173 [A/G] rs507630 1 77149207 [T/G] rs9324157 1 77168568 [T/G] rs489723 1 77170017 [A/G] rs1874806 1 77187595 [A/C] rs647890 1 77190350 [T/C] rs2173399 1 77210385 [T/C] rs1566250 1 77214364 [T/C] rs962668 1 77217180 [T/C] rs7530899 1 77238731 [A/G] rs10873910 1 77240543 [T/G] rs11162205 1 77242042 [T/C] rs4506508 1 77256336 [A/C] rs11577464 1 77259107 [A/G] rs7534641 1 77266676 [A/G] rs4526656 1 77282567 [A/G] rs11162217 1 77284346 [A/G] rs12126169 1 77291022 [T/C] exm2265020 1 77295109 [A/G] rs1316659 1 77299392 [T/C] rs9660892 1 77323384 [T/C] rs1004878 1 77324640 [T/G] rs1522618 1 77332627 [T/C] rs17099690 1 77371741 [T/G] NM_030965 ST6GALNAC5 Silent rs1766285 1 77387631 [A/G] NM_030965 ST6GALNAC5 Silent rs17368584 1 77396166 [T/C] NM_030965 ST6GALNAC5 Silent rs3113982 1 77397124 [T/G] NM_030965 ST6GALNAC5 Silent rs1252593 1 77405284 [T/C] NM_030965 ST6GALNAC5 Silent rs12124645 1 77412583 [A/G] NM_030965 ST6GALNAC5 Silent rs858600 1 77425159 [A/G] NM_030965 ST6GALNAC5 Silent rs2143582 1 77453593 [T/C] NM_030965 ST6GALNAC5 Silent rs1933393 1 77456303 [T/C] NM_030965 ST6GALNAC5 Silent rs10873925 1 77461735 [A/G] NM_030965 ST6GALNAC5 Silent rs1933399 1 77464831 [A/G] NM_030965 ST6GALNAC5 Silent rs10782639 1 77477215 [A/G] NM_030965 ST6GALNAC5 Silent rs199667 1 77480445 [T/G] NM_030965 ST6GALNAC5 Silent rs199679 1 77487417 [T/C] NM_030965 ST6GALNAC5 Silent rs199696 1 77505413 [A/G] NM_030965 ST6GALNAC5 Silent 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 rs199724 1 77531780 [A/G] rs169215 1 77546091 [A/C] exm2253243 1 77547831 [T/C] rs199710 1 77550431 [T/C] rs6688757 1 77550946 [T/G] rs4949766 1 77569489 [T/C] NM_005482 PIGK Silent rs7550325 1 77569545 [T/C] NM_005482 PIGK Silent rs6683950 1 77592351 [T/C] NM_005482 PIGK Silent rs858447 1 77607160 [A/G] NM_005482 PIGK Silent exm69602 1 77627018 [T/C] NM_005482 PIGK EXON Missense_E259K newrs142473240 1 77627279 [T/C] NM_005482 PIGK EXON Synonymous_S234S variant.4360 1 77629530 [T/C] NM_005482 PIGK Silent 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 rs1098125 1 77640166 [T/C] NM_005482 PIGK Silent rs1829913 1 77644806 [T/C] NM_005482 PIGK Silent 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 rs10518440 1 77696822 [A/G] rs12131286 1 77697582 [T/C] rs11162297 1 77700928 [A/G] rs2689672 1 77707391 [T/G] rs17100075 1 77726109 [T/C] rs12119637 1 77733420 [A/G] rs6692536 1 77734562 [A/G] rs940283 1 77737217 [T/C] rs1851736 1 77747248 [T/G] rs7534033 1 77749322 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11806344 1 77756532 [T/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent exm69660 1 77763309 [A/G] NM_174858,NM_012093 AK5,AK5 EXON Missense_I161V,Missense_I135V rs10782646 1 77766847 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs1167198 1 77779836 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs7514177 1 77782761 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11162319 1 77808677 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs6696968 1 77809846 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs4949653 1 77822519 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11162326 1 77836489 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs17100475 1 77839480 [T/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs10873933 1 77840100 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11162331 1 77850800 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs3844165 1 77854238 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs4949800 1 77857683 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs17379910 1 77863068 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent exm2264861 1 77865140 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs6663047 1 77865140 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11162334 1 77865771 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2882289 1 77872142 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs4949802 1 77876353 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs7512897 1 77880188 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs10493606 1 77886499 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs11162341 1 77897713 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs12407481 1 77904451 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs6658302 1 77908985 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2647506 1 77914159 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs12568376 1 77924890 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2647503 1 77939418 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs7522356 1 77951460 [T/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs9324162 1 77954804 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2647497 1 77955556 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs7514041 1 77964269 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs3104467 1 77971047 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs17380796 1 77976117 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs10873947 1 77986516 [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 rs17100672 1 77988371 [T/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs2803136 1 77992695 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent exm69704 1 78001652 [T/C] NM_174858,NM_012093 AK5,AK5 EXON Missense_R517C,Missense_R491C rs4949659 1 78017571 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs1565851 1 78022217 [A/G] NM_174858,NM_012093 AK5,AK5 Silent,Silent rs7536433 1 78023173 [T/C] NM_174858,NM_012093 AK5,AK5 Silent,Silent 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 rs17100774 1 78039216 [A/G] NM_015534 ZZZ3 Silent 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 var_1_78050300 1 78050300 [A/G] NM_015534 ZZZ3 EXON Nonsense_Q516X 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 indel.4370 1 78098810 [D/I] NM_015534 ZZZ3 EXON exm69823 1 78099032 [C/G] NM_015534 ZZZ3 EXON Missense_A3G rs278853 1 78130243 [T/C] NM_015534 ZZZ3 Silent rs17100916 1 78141164 [A/G] NM_015534 ZZZ3 Silent variant.4371 1 78163079 [A/G] NM_015017,NM_201624 USP33,USP33 EXON Nonsense_R918X,Nonsense_R887X 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 rs11162378 1 78183861 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 Silent,Silent,Silent exm69871 1 78184325 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Synonymous_L596L,Synonymous_L565L,Synonymous_L588L rs12142671 1 78184325 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Synonymous_L596L,Synonymous_L565L,Synonymous_L588L variant.4372 1 78187746 [A/G] NM_015017,NM_201624,NM_201626 USP33,USP33,USP33 EXON Nonsense_Q540X,Nonsense_Q509X,Nonsense_Q540X 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_198549,NM_001270384 FAM73A,FAM73A EXON Missense_M1R,Missense_M1R rs1166588 1 78254258 [T/C] NM_198549,NM_001270384 FAM73A,FAM73A Silent,Silent variant.4374 1 78267014 [A/G] NM_198549,NM_001270384 FAM73A,FAM73A Silent,Silent exm1908264 1 78267157 [A/C] NM_198549,NM_001270384 FAM73A,FAM73A EXON Missense_I113L,Missense_I113L exm69960 1 78267163 [G/C] NM_198549,NM_001270384 FAM73A,FAM73A EXON Missense_E115Q,Missense_E115Q exm69965 1 78269053 [T/C] NM_198549,NM_001270384 FAM73A,FAM73A EXON Missense_F158L,Missense_F158L exm69970 1 78279446 [A/G] NM_198549,NM_001270384 FAM73A,FAM73A EXON Missense_R222H,Missense_R222H variant.4376 1 78279557 [A/G] NM_198549,NM_001270384 FAM73A,FAM73A Silent,Silent exm69974 1 78280886 [T/C] NM_198549,NM_001270384 FAM73A,FAM73A EXON Missense_S289P,Missense_S289P rs10873955 1 78284211 [A/G] NM_198549,NM_001270384 FAM73A,FAM73A Silent,Silent rs6604878 1 78305783 [T/G] NM_198549,NM_001270384 FAM73A,FAM73A Silent,Silent exm2268903 1 78305859 [T/G] NM_198549,NM_001270384 FAM73A,FAM73A Silent,Silent exm69980 1 78324641 [A/G] NM_198549,NM_001270384 FAM73A,FAM73A EXON Missense_V339I,Missense_V339I exm69987 1 78325752 [A/G] NM_198549,NM_001270384 FAM73A,FAM73A EXON Missense_I406V,Missense_I406V variant.4377 1 78325770 [T/G] NM_198549,NM_001270384 FAM73A,FAM73A EXON Nonsense_G412X,Nonsense_G412X exm70004 1 78338763 [C/G] NM_198549,NM_001270384 FAM73A,FAM73A EXON Missense_L546F,Missense_L547F exm70006 1 78338798 [T/C] NM_198549,NM_001270384 FAM73A,FAM73A EXON Missense_F558S,Missense_F559S rs9663066 1 78339654 [T/G] NM_198549,NM_001270384 FAM73A,FAM73A Silent,Silent exm70008 1 78340540 [A/C] NM_198549,NM_001270384 FAM73A,FAM73A EXON Missense_L564I,Missense_L565I variant.4379 1 78383249 [A/G] NM_001172309,NM_144573 NEXN,NEXN Silent,Silent exm70040 1 78392222 [A/G] NM_001172309,NM_144573 NEXN,NEXN EXON Missense_E141K,Missense_E205K indel.4380 1 78392431 [D/I] NM_001172309,NM_144573 NEXN,NEXN EXON rs1166698 1 78392446 [A/G] NM_001172309,NM_144573 NEXN,NEXN EXON Missense_G181R,Missense_G245R exm1908376 1 78392548 [T/C] NM_001172309,NM_144573 NEXN,NEXN EXON Missense_R215C,Missense_R279C variant.4382 1 78392577 [T/G] NM_001172309,NM_144573 NEXN,NEXN EXON Missense_M224I,Missense_M288I exm70056 1 78395029 [C/G] NM_001172309,NM_144573 NEXN,NEXN EXON Missense_T234R,Missense_T298R exm70060 1 78395131 [A/C] NM_001172309,NM_144573 NEXN,NEXN EXON Missense_E268A,Missense_E332A exm70066 1 78399084 [T/C] NM_001172309,NM_144573 NEXN,NEXN EXON Nonsense_R327X,Nonsense_R391X rs1780050 1 78400540 [A/C] NM_001172309,NM_144573 NEXN,NEXN Silent,Silent exm70074 1 78401664 [C/G] NM_001172309,NM_144573 NEXN,NEXN EXON Missense_E406Q,Missense_E470Q exm70076 1 78401691 [T/C] NM_001172309,NM_144573 NEXN,NEXN EXON Missense_L415F,Missense_L479F exm70084 1 78407816 [G/C] NM_001172309,NM_144573 NEXN,NEXN EXON Missense_E464Q,Missense_E528Q exm70086 1 78407852 [A/G] NM_001172309,NM_144573 NEXN,NEXN EXON Missense_M476V,Missense_M540V exm70093 1 78408274 [T/G] NM_001172309,NM_144573 NEXN,NEXN EXON Missense_S532R,Missense_S596R indel.4384 1 78408431 [D/I] NM_001172309,NM_144573 NEXN,NEXN EXON exm70096 1 78408441 [A/G] NM_001172309,NM_144573 NEXN,NEXN EXON Missense_Y588C,Missense_Y652C rs12027636 1 78410240 [A/G] exm70107 1 78422374 [T/C] NM_003902 FUBP1 EXON Missense_T530A exm70156 1 78433856 [T/G] NM_003902 FUBP1 EXON Missense_Q81H variant.4387 1 78435604 [T/C] NM_003902 FUBP1 Silent variant.4388 1 78471010 [A/G] NM_007034 DNAJB4 Silent rs6424648 1 78475199 [A/G] NM_007034 DNAJB4 Silent 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 variant.4389 1 78479298 [T/C] NM_007034 DNAJB4 EXON Nonsense_R259X rs1039863 1 78481640 [A/G] NM_007034 DNAJB4 Silent exm70193 1 78481716 [A/G] NM_007034 DNAJB4 EXON Missense_I267V exm70194 1 78481725 [T/C] NM_007034 DNAJB4 EXON Missense_P270S rs6424659 1 78501215 [T/C] rs12411130 1 78502520 [A/C] exm70207 1 78511980 [T/G] NM_017655 GIPC2 EXON Missense_A68S rs12123953 1 78515147 [T/C] NM_017655 GIPC2 Silent rs4245660 1 78540733 [T/C] NM_017655 GIPC2 Silent variant.4390 1 78546375 [T/G] NM_017655 GIPC2 EXON Nonsense_L86X indel.4391 1 78546380 [I/D] NM_017655 GIPC2 EXON exm70211 1 78546462 [A/G] NM_017655 GIPC2 EXON Missense_E115G exm70214 1 78546500 [C/G] NM_017655 GIPC2 EXON Missense_G128R rs630640 1 78557608 [A/G] NM_017655 GIPC2 Silent indel.4393 1 78560780 [I/D] NM_017655 GIPC2 EXON exm2264862 1 78574129 [A/G] NM_017655 GIPC2 Silent rs6666954 1 78578177 [T/C] NM_017655 GIPC2 Silent exm70227 1 78585086 [T/C] NM_017655 GIPC2 EXON Missense_L206P rs540742 1 78585086 [T/C] NM_017655 GIPC2 EXON Missense_L206P newrs140087680 1 78585115 [T/G] NM_017655 GIPC2 EXON Nonsense_E216X rs573952 1 78590204 [A/C] NM_017655 GIPC2 Silent rs12758374 1 78590255 [A/C] NM_017655 GIPC2 Silent exm70240 1 78601390 [A/G] NM_017655 GIPC2 EXON Nonsense_W304X var_1_78601390 1 78601390 [A/G] NM_017655 GIPC2 EXON Nonsense_W304X rs661136 1 78603383 [A/G] rs554298 1 78604614 [A/G] rs586300 1 78607268 [T/G] exm-rs17391694 1 78623626 [T/C] rs7555504 1 78629908 [T/G] rs11799753 1 78634053 [T/C] rs689374 1 78639244 [T/C] rs17101475 1 78643674 [T/C] rs683097 1 78666990 [T/G] rs669764 1 78691660 [T/C] rs2181453 1 78696522 [T/C] NR_027310 MGC27382 Silent rs942100 1 78699394 [A/G] NR_027310 MGC27382 Silent rs12409525 1 78708393 [T/C] NR_027310 MGC27382 Silent rs644224 1 78714497 [T/C] NR_027310 MGC27382 Silent rs6656584 1 78721238 [A/G] NR_027310 MGC27382 Silent rs6685021 1 78742185 [T/C] NR_027310 MGC27382 Silent rs1952363 1 78743308 [A/G] NR_027310 MGC27382 Silent rs6424762 1 78749908 [A/C] NR_027310 MGC27382 Silent rs12144203 1 78756602 [A/C] NR_027310 MGC27382 Silent rs11162451 1 78760605 [A/C] NR_027310 MGC27382 Silent rs720887 1 78766380 [A/C] NR_027310 MGC27382 Silent rs11162456 1 78772046 [A/G] NR_027310 MGC27382 Silent rs11162463 1 78781923 [A/G] NR_027310 MGC27382 Silent rs2352037 1 78790740 [A/C] NR_027310 MGC27382 Silent rs12063386 1 78800843 [T/G] NR_027310 MGC27382 Silent rs2352039 1 78819945 [T/G] NR_027310 MGC27382 Silent rs10873978 1 78821497 [T/C] NR_027310 MGC27382 Silent rs538855 1 78873062 [T/C] rs648425 1 78887208 [T/C] rs674345 1 78894934 [T/C] rs6678699 1 78934451 [A/C] rs6692239 1 78937828 [T/C] rs1412414 1 78938777 [A/G] exm70251 1 78958457 [T/C] NM_001039585,NM_000959 PTGFR,PTGFR EXON Missense_V10A,Missense_V10A indel.4400 1 78958518 [I/D] NM_001039585,NM_000959 PTGFR,PTGFR EXON exm2233850 1 78958628 [T/G] NM_001039585,NM_000959 PTGFR,PTGFR EXON Missense_L67R,Missense_L67R exm70261 1 78958691 [T/C] NM_001039585,NM_000959 PTGFR,PTGFR EXON Missense_A88V,Missense_A88V exm70265 1 78958862 [T/C] NM_001039585,NM_000959 PTGFR,PTGFR EXON Missense_T145M,Missense_T145M exm70270 1 78958893 [A/G] NM_001039585,NM_000959 PTGFR,PTGFR EXON Missense_M155I,Missense_M155I indel.4401 1 78958911 [D/I] NM_001039585,NM_000959 PTGFR,PTGFR EXON exm70280 1 78959081 [T/C] NM_001039585,NM_000959 PTGFR,PTGFR EXON Missense_L218S,Missense_L218S exm70281 1 78959117 [T/C] NM_001039585,NM_000959 PTGFR,PTGFR EXON Missense_V230A,Missense_V230A rs1322935 1 78963305 [A/C] NM_001039585,NM_000959 PTGFR,PTGFR Silent,Silent rs1322934 1 78963437 [A/G] NM_001039585,NM_000959 PTGFR,PTGFR Silent,Silent exm70293 1 78963581 [A/G] NM_001039585,NM_000959 PTGFR,PTGFR EXON Missense_G274E,Silent exm70294 1 78963587 [A/G] NM_001039585,NM_000959 PTGFR,PTGFR EXON Missense_E276G,Silent rs6701594 1 78976570 [A/G] NM_001039585,NM_000959 PTGFR,PTGFR Silent,Silent rs33966768 1 78998759 [T/C] NM_001039585,NM_000959 PTGFR,PTGFR Silent,Silent rs686262 1 78999367 [A/G] NM_001039585,NM_000959 PTGFR,PTGFR Silent,Silent exm70300 1 79002115 [A/C] NM_001039585,NM_000959 PTGFR,PTGFR EXON Missense_X298Y,Missense_N275H var_1_79002214 1 79002214 [T/C] NM_001039585,NM_000959 PTGFR,PTGFR EXON Silent,Nonsense_R308X exm1908770 1 79002230 [A/G] NM_001039585,NM_000959 PTGFR,PTGFR EXON Silent,Missense_K313R exm70307 1 79002304 [A/G] NM_001039585,NM_000959 PTGFR,PTGFR EXON Silent,Missense_I338V rs898 1 79003258 [A/C] NM_001039585,NM_000959 PTGFR,PTGFR EXON Silent,Silent rs1023253 1 79051869 [T/C] exm2265021 1 79056297 [A/G] rs273238 1 79082772 [A/G] rs1333969 1 79090654 [T/C] NM_006820 IFI44L Silent variant.4406 1 79093705 [T/C] NM_006820 IFI44L EXON Synonymous_G35G 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 newrs147126504 1 79094069 [T/C] NM_006820 IFI44L EXON Nonsense_R157X exm70338 1 79094079 [T/G] NM_006820 IFI44L Silent variant.4409 1 79095404 [A/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 variant.4412 1 79106811 [A/G] NM_006820 IFI44L Silent exm70383 1 79107140 [T/G] NM_006820 IFI44L EXON Missense_M390I indel.4415 1 79107461 [I/D] NM_006820 IFI44L EXON rs10493610 1 79114494 [T/C] exm70399 1 79115897 [A/G] NM_006417 IFI44 EXON Missense_R6H indel.4416 1 79115915 [I/D] NM_006417 IFI44 EXON newrs142697926 1 79115926 [T/C] NM_006417 IFI44 EXON Nonsense_Q16X 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 variant.4418 1 79116338 [A/G] NM_006417 IFI44 Silent exm70434 1 79120788 [T/C] NM_006417 IFI44 EXON Missense_I195T indel.4419 1 79120807 [D/I] NM_006417 IFI44 EXON indel.4420 1 79120856 [I/D] NM_006417 IFI44 EXON newrs141575882 1 79121045 [A/G] NM_006417 IFI44 Silent exm70445 1 79121048 [A/G] NM_006417 IFI44 EXON Missense_Y231C exm70447 1 79121071 [A/G] NM_006417 IFI44 EXON Missense_G239R variant.4422 1 79121131 [T/G] NM_006417 IFI44 EXON Nonsense_E259X rs7514391 1 79123094 [A/G] NM_006417 IFI44 Silent 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 indel.4424 1 79126291 [I/D] NM_006417 IFI44 EXON newrs141520096 1 79126339 [A/G] NM_006417 IFI44 EXON Synonymous_K371K exm70472 1 79128419 [A/G] NM_006417 IFI44 EXON Missense_A382T variant.4426 1 79128458 [T/G] NM_006417 IFI44 EXON Nonsense_E395X 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 rs6669498 1 79131805 [T/C] rs6691836 1 79143192 [T/C] rs11162526 1 79144319 [T/C] rs1926902 1 79171286 [T/G] rs1780748 1 79181290 [T/C] rs1780746 1 79182561 [A/G] rs1751520 1 79188388 [A/G] rs4551552 1 79195469 [A/G] rs1751527 1 79202300 [T/C] rs1751529 1 79214489 [A/G] rs1625911 1 79215225 [A/G] rs1926896 1 79217345 [T/C] rs1937020 1 79227956 [T/C] rs7521977 1 79233493 [T/C] rs4650608 1 79238015 [T/C] rs12730292 1 79254762 [G/C] rs1937009 1 79255347 [A/G] rs10873998 1 79263805 [T/C] rs6676466 1 79274028 [A/G] rs12406640 1 79274644 [T/G] rs4650610 1 79281968 [A/G] rs1937019 1 79282661 [T/C] rs6695185 1 79299411 [T/C] exm2268710 1 79299411 [T/C] rs4650380 1 79299679 [A/G] rs2171714 1 79330525 [A/G] rs3012079 1 79336164 [T/C] rs931413 1 79348506 [A/C] rs12037077 1 79350364 [T/G] rs1261980 1 79353655 [A/G] 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 rs7552978 1 79380466 [A/G] NM_022159 ELTD1 Silent rs1489400 1 79382009 [A/C] NM_022159 ELTD1 Silent rs977915 1 79382535 [T/C] NM_022159 ELTD1 Silent 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 var_1_79392576 1 79392576 [A/G] NM_022159 ELTD1 EXON Nonsense_R360X exm70530 1 79392731 [A/G] NM_022159 ELTD1 EXON Missense_L308S exm70533 1 79392756 [A/C] NM_022159 ELTD1 EXON Missense_V300L rs12754818 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 variant.4433 1 79403780 [T/C] NM_022159 ELTD1 Silent exm70550 1 79403796 [A/G] NM_022159 ELTD1 EXON Missense_S189P exm70559 1 79404913 [T/G] NM_022159 ELTD1 EXON Missense_N119T rs723898 1 79411888 [T/C] NM_022159 ELTD1 Silent exm70562 1 79411968 [A/C] NM_022159 ELTD1 EXON Missense_V106F exm70564 1 79412096 [T/C] NM_022159 ELTD1 EXON Missense_G63E rs1489391 1 79419229 [T/C] NM_022159 ELTD1 Silent rs17413911 1 79419439 [T/C] NM_022159 ELTD1 Silent rs7534310 1 79439662 [T/G] NM_022159 ELTD1 Silent rs7527803 1 79451015 [A/G] NM_022159 ELTD1 Silent rs6685355 1 79458347 [A/C] NM_022159 ELTD1 Silent exm70566 1 79470788 [T/C] NM_022159 ELTD1 EXON Missense_G47R rs1571991 1 79471959 [T/G] NM_022159 ELTD1 Silent rs2065486 1 79482417 [A/G] rs12406049 1 79484287 [A/G] rs6424626 1 79487080 [T/C] rs6691975 1 79490302 [A/C] rs1831704 1 79501129 [A/G] rs1332819 1 79507828 [T/C] rs6687262 1 79509109 [T/C] rs1906281 1 79539394 [A/G] rs1571993 1 79549699 [T/C] rs12760876 1 79550278 [A/C] rs10874010 1 79552777 [A/G] rs11808377 1 79555869 [A/G] rs7531214 1 79556037 [T/C] rs6424633 1 79566969 [A/G] rs12097617 1 79571617 [A/G] rs10874016 1 79580281 [T/C] rs17408603 1 79587385 [A/C] exm2264863 1 79591801 [A/G] rs17102812 1 79593296 [T/C] rs6690294 1 79595722 [T/C] rs17102821 1 79595821 [T/C] rs2046623 1 79610214 [T/C] rs1555385 1 79614989 [T/G] rs228563 1 79646219 [A/C] rs10489655 1 79653433 [A/C] rs5008836 1 79658861 [A/G] kgp10712530 1 79659418 [T/C] rs228535 1 79666153 [A/C] exm2265022 1 79709724 [A/G] rs417181 1 79710545 [A/G] rs6674681 1 79721123 [T/C] rs7520601 1 79728427 [T/C] rs10158555 1 79729175 [A/G] rs17103022 1 79733549 [T/C] rs7555545 1 79741744 [A/G] rs1412139 1 79770776 [A/G] rs1412136 1 79775411 [T/C] rs6666584 1 79826759 [A/G] rs3015050 1 79853766 [T/C] rs3000156 1 79856086 [T/C] rs6665036 1 79866210 [T/G] rs3000182 1 79887916 [A/G] rs3015119 1 79896187 [A/G] rs7516261 1 79928591 [A/G] rs2934871 1 79970061 [T/C] rs17103311 1 79973439 [A/G] rs2172794 1 79997655 [T/G] rs958261 1 80014353 [T/C] rs1603126 1 80016295 [T/C] rs1587076 1 80025255 [A/C] rs1603130 1 80026228 [A/G] rs6424661 1 80052033 [A/G] rs12083183 1 80058984 [T/C] rs10465721 1 80069082 [T/C] rs1339784 1 80072305 [A/G] rs7534346 1 80084647 [T/G] rs12138392 1 80098006 [T/C] rs10493653 1 80115793 [A/C] rs11162772 1 80116138 [A/G] rs6662701 1 80126241 [A/G] exm-rs7533906 1 80134123 [T/C] rs11162780 1 80135445 [T/C] rs6681417 1 80147123 [A/G] exm2268711 1 80148857 [T/G] rs11162785 1 80148857 [T/G] rs989580 1 80155982 [T/C] rs7539480 1 80171368 [T/C] rs12144677 1 80172400 [A/G] rs6699172 1 80196238 [A/G] rs2103119 1 80197572 [T/C] rs1404064 1 80203708 [A/G] rs2037617 1 80217533 [T/C] rs11162813 1 80226884 [A/G] rs3927739 1 80233281 [T/C] exm-rs12022561 1 80235819 [T/C] rs5008948 1 80239398 [T/C] rs12023389 1 80242598 [A/G] exm-rs12024204 1 80243001 [A/G] rs10782700 1 80248034 [T/C] rs17458029 1 80251768 [T/C] rs1949779 1 80255867 [T/C] rs1568764 1 80258075 [A/G] rs1880268 1 80269886 [A/G] rs10874076 1 80270261 [A/G] rs12744944 1 80278733 [A/G] rs10874077 1 80279906 [A/C] rs11162830 1 80289838 [T/G] rs12125467 1 80297950 [T/C] rs12025436 1 80305984 [A/G] rs12059430 1 80312051 [A/G] rs11162840 1 80316225 [T/C] rs10874095 1 80329280 [T/C] rs1370722 1 80338715 [A/G] rs4576621 1 80341071 [T/C] rs10874098 1 80367960 [A/C] rs912759 1 80369902 [T/C] rs7547365 1 80377618 [T/G] exm2264864 1 80386090 [A/G] rs159665 1 80403167 [T/C] rs12085600 1 80416562 [A/G] rs7524563 1 80416987 [T/G] rs10493634 1 80442475 [T/C] rs11162883 1 80451812 [A/C] rs10874105 1 80452152 [A/G] rs1010470 1 80454235 [A/G] rs10493632 1 80454869 [T/C] rs17104213 1 80455734 [A/G] rs10493631 1 80477880 [T/C] rs6677996 1 80498496 [A/G] rs2184613 1 80503523 [T/C] rs6424682 1 80514544 [T/G] rs6699236 1 80514706 [T/C] rs6657785 1 80517224 [A/G] rs12038492 1 80522918 [A/C] rs1999727 1 80523448 [A/C] rs1029200 1 80529386 [A/C] rs12140474 1 80534444 [T/C] rs7545328 1 80547435 [T/G] rs4618922 1 80563300 [A/G] rs7548641 1 80563570 [T/C] rs4454493 1 80567175 [T/C] rs11162927 1 80584740 [A/G] rs4384179 1 80586993 [A/G] rs12407709 1 80589739 [T/C] rs4330881 1 80631231 [A/G] rs10874118 1 80638947 [A/G] rs7521092 1 80644813 [A/C] rs4310401 1 80656114 [A/G] rs4375210 1 80659876 [T/C] rs10782722 1 80662898 [A/G] rs952603 1 80683606 [A/G] rs1687846 1 80685710 [T/C] rs2211432 1 80694377 [T/C] rs1776325 1 80703306 [A/G] rs11162962 1 80717516 [T/C] rs12563768 1 80719769 [A/G] rs1539486 1 80722041 [A/G] rs11162963 1 80734581 [T/C] rs7529438 1 80735096 [A/G] rs1776286 1 80741898 [A/C] rs12144659 1 80744080 [T/C] rs17104602 1 80758961 [A/G] rs1937791 1 80770605 [T/C] rs2154298 1 80791787 [A/G] rs12065553 1 80793118 [A/G] rs2389024 1 80805845 [T/C] rs12118987 1 80818530 [T/C] rs3014987 1 80823037 [T/C] rs10158964 1 80825083 [T/G] rs2997195 1 80838880 [T/C] rs1937787 1 80839278 [T/C] rs17104735 1 80846304 [T/C] rs12563780 1 80854470 [T/C] rs1549555 1 80858466 [A/G] rs6680065 1 80869734 [T/C] rs17390593 1 80876340 [A/C] rs4650458 1 80881727 [A/G] rs1427239 1 80892408 [T/C] rs12118390 1 80911114 [A/G] rs1365750 1 80929598 [A/G] rs1155549 1 80944604 [A/G] rs4650467 1 80953659 [T/C] rs718003 1 80956319 [T/C] rs17104891 1 80965281 [A/G] rs184812 1 80970978 [A/G] rs1593679 1 80977160 [T/G] rs356287 1 80977963 [A/G] rs17104916 1 80985935 [A/C] rs12031162 1 80989370 [T/G] rs356295 1 80993368 [A/C] rs12070796 1 80997745 [A/G] rs11163045 1 81004543 [A/G] rs2389057 1 81027980 [A/C] rs10874140 1 81028590 [T/C] rs11163055 1 81038969 [T/C] rs17105114 1 81056073 [A/G] rs10874145 1 81059253 [A/G] rs1279686 1 81070850 [A/G] rs1279688 1 81071433 [T/C] rs7552365 1 81087175 [A/C] rs2800878 1 81090382 [T/C] rs17105153 1 81096254 [T/C] rs17105223 1 81120474 [T/G] rs1279690 1 81130054 [T/C] rs17105288 1 81137243 [A/G] rs12035797 1 81137567 [T/G] rs6688321 1 81140382 [A/G] rs10493675 1 81143121 [A/G] rs6698422 1 81156483 [T/C] rs841668 1 81159163 [T/C] rs1832331 1 81161337 [T/C] rs1337642 1 81164242 [T/C] rs1591678 1 81176850 [A/G] rs841666 1 81177525 [T/C] rs11163090 1 81181741 [T/C] rs2152856 1 81188002 [T/C] rs1337638 1 81195339 [T/C] rs12566647 1 81202219 [A/G] rs4414082 1 81202427 [T/C] rs6660382 1 81222277 [A/G] rs11163106 1 81227145 [T/C] rs12120655 1 81232434 [T/G] rs945867 1 81235436 [A/G] rs2147085 1 81259137 [A/G] rs10874175 1 81282234 [T/C] rs17105538 1 81315043 [A/G] rs10874177 1 81316894 [T/C] rs4650353 1 81329765 [A/G] rs17105542 1 81336283 [T/G] rs6659760 1 81345264 [A/G] rs4650491 1 81352249 [T/G] rs4650355 1 81376282 [T/C] rs1338128 1 81378292 [A/G] rs1338127 1 81384148 [T/C] rs1933329 1 81386389 [A/G] rs1338137 1 81392951 [T/G] rs10874182 1 81401098 [T/C] rs4307601 1 81411025 [A/G] rs11163165 1 81427862 [T/C] rs6694777 1 81436522 [T/G] rs4077887 1 81447213 [A/G] rs1863618 1 81450244 [A/G] rs10874192 1 81452990 [A/G] rs12041774 1 81482945 [T/C] rs1426782 1 81516862 [A/G] rs1426783 1 81518782 [A/C] rs11583080 1 81530739 [T/C] rs10782747 1 81536949 [T/C] rs672797 1 81560554 [A/C] rs575528 1 81563249 [A/G] rs1768400 1 81591135 [A/G] rs1752212 1 81592966 [A/G] rs17406922 1 81593406 [A/G] rs1146413 1 81599140 [A/G] rs17106044 1 81610300 [T/C] rs1327712 1 81614826 [A/C] rs1195685 1 81617971 [A/G] rs3908548 1 81633378 [A/G] rs1831109 1 81639173 [T/C] rs12565210 1 81661538 [A/G] rs2225966 1 81668315 [T/G] rs17106149 1 81671841 [T/C] rs7553222 1 81677398 [A/G] rs1195866 1 81678254 [T/C] rs11163216 1 81702178 [A/G] rs17106264 1 81706429 [T/C] rs1557020 1 81739593 [A/G] rs2031773 1 81741715 [T/G] rs7551904 1 81746732 [T/C] rs17417493 1 81749474 [T/C] rs10735763 1 81756972 [A/C] rs12026119 1 81759170 [A/G] rs6683338 1 81766935 [A/C] rs1998981 1 81770597 [T/C] rs12137941 1 81778651 [A/C] rs17452799 1 81780540 [A/G] rs4650366 1 81791213 [A/G] rs4362025 1 81796081 [T/G] rs11163254 1 81803379 [T/C] rs1327600 1 81804154 [A/G] exm2268712 1 81807097 [T/C] rs7534535 1 81820712 [T/C] rs4512695 1 81828029 [T/C] rs4526653 1 81831533 [A/C] rs11163267 1 81843506 [T/C] rs4561073 1 81866112 [T/G] exm2260736 1 81867479 [T/C] rs7546194 1 81870764 [A/G] rs11808193 1 81873869 [A/G] rs11163281 1 81876723 [A/C] rs6681688 1 81881212 [T/C] rs12722932 1 81885380 [T/C] rs10874242 1 81891851 [T/C] rs4520454 1 81901137 [T/C] rs4390217 1 81911370 [A/G] rs11163296 1 81911989 [T/C] rs4420124 1 81924106 [T/C] rs11586668 1 81941270 [A/G] rs11163302 1 81943906 [A/G] rs11163306 1 81947398 [T/G] rs12142040 1 81949079 [A/G] rs4650559 1 81951500 [T/C] rs1535881 1 81983650 [A/G] rs1408426 1 81984158 [T/C] rs11806028 1 81995870 [A/G] rs17106647 1 81998027 [T/C] rs7527341 1 82009424 [T/C] rs7544613 1 82015752 [A/G] rs12022306 1 82026353 [A/G] rs10493695 1 82053387 [T/C] rs10874255 1 82054524 [A/C] rs12717771 1 82064696 [A/G] rs11809789 1 82074852 [A/G] rs1924651 1 82078790 [A/G] rs7523717 1 82087412 [T/C] rs17106847 1 82096075 [T/C] rs10493696 1 82102924 [A/G] rs571361 1 82126526 [A/G] rs9324178 1 82127429 [T/C] rs627084 1 82138740 [A/G] rs489438 1 82143805 [T/C] rs11163349 1 82148070 [A/G] rs645997 1 82156682 [A/G] rs660851 1 82162001 [A/G] rs9662349 1 82178052 [A/G] rs9728534 1 82181580 [T/C] rs9660481 1 82181963 [A/C] rs9724784 1 82184463 [A/G] rs9659808 1 82199372 [T/C] rs9729825 1 82215080 [A/G] rs9324187 1 82225803 [T/G] rs10874266 1 82228427 [T/C] rs12072054 1 82243083 [A/G] rs11163371 1 82244575 [T/G] rs1498212 1 82246392 [A/G] rs11163372 1 82247248 [T/C] rs3748770 1 82265905 [A/G] rs1341259 1 82271766 [A/G] NM_012302 LPHN2 Silent rs12059795 1 82278453 [T/C] NM_012302 LPHN2 Silent rs6677062 1 82295530 [A/G] NM_012302 LPHN2 Silent rs754054 1 82299571 [A/G] NM_012302 LPHN2 Silent rs12064537 1 82302600 [T/C] NM_012302 LPHN2 EXON Silent exm70571 1 82302677 [T/C] NM_012302 LPHN2 EXON Missense_S3F exm70573 1 82302695 [A/G] NM_012302 LPHN2 EXON Missense_R9Q rs3790952 1 82304384 [T/C] NM_012302 LPHN2 Silent rs11163391 1 82317489 [T/C] NM_012302 LPHN2 Silent rs3790927 1 82339237 [A/G] NM_012302 LPHN2 Silent rs638113 1 82362195 [A/G] NM_012302 LPHN2 Silent rs2026596 1 82364673 [A/G] NM_012302 LPHN2 Silent rs654654 1 82368812 [T/C] NM_012302 LPHN2 Silent exm70579 1 82372803 [A/G] NM_012302 LPHN2 EXON Missense_I59V rs12758555 1 82387711 [A/G] NM_012302 LPHN2 Silent rs993099 1 82388902 [A/G] NM_012302 LPHN2 Silent rs2201163 1 82389289 [A/G] NM_012302 LPHN2 Silent newrs139190382 1 82402521 [A/G] NM_012302 LPHN2 EXON Missense_I133V rs386783 1 82402790 [T/C] NM_012302 LPHN2 Silent 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 variant.4437 1 82409458 [A/G] NM_012302 LPHN2 Silent rs2172285 1 82411874 [A/G] NM_012302 LPHN2 Silent rs11163396 1 82413263 [T/C] NM_012302 LPHN2 Silent 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 variant.4439 1 82431872 [T/G] NM_012302 LPHN2 Silent 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 rs1327022 1 82436281 [A/G] NM_012302 LPHN2 Silent exm70670 1 82437536 [T/C] NM_012302 LPHN2 EXON Synonymous_A968A variant.4441 1 82446523 [A/G] NM_012302 LPHN2 Silent var_1_82446525 1 82446525 [T/C] NM_012302 LPHN2 Silent rs12130650 1 82447191 [A/G] NM_012302 LPHN2 Silent rs1154816 1 82450194 [A/C] NM_012302 LPHN2 Silent 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 rs7412827 1 82462304 [A/G] rs1022974 1 82469609 [A/G] rs12145656 1 82492195 [T/C] rs12135377 1 82506257 [A/C] rs10782773 1 82508628 [T/C] rs7515935 1 82517491 [T/C] rs4609472 1 82541810 [A/G] rs4970666 1 82552067 [T/C] rs12129408 1 82555368 [T/C] rs962249 1 82561559 [T/G] rs12083586 1 82566764 [A/C] rs6687277 1 82575142 [A/G] rs4970675 1 82595241 [T/C] rs6681181 1 82612212 [A/G] rs7514492 1 82653168 [A/C] rs695978 1 82686415 [T/C] rs10493712 1 82690006 [T/C] rs10747391 1 82696502 [A/G] rs4106233 1 82708274 [T/C] rs796800 1 82712113 [T/C] rs785605 1 82723394 [A/G] rs2657551 1 82729907 [A/G] rs785612 1 82744600 [A/G] rs785631 1 82751201 [A/G] rs1770679 1 82764942 [T/C] rs709741 1 82777956 [A/G] rs1857814 1 82787818 [A/G] rs786077 1 82797633 [T/G] rs785643 1 82800233 [A/G] rs785639 1 82801007 [T/C] rs1144283 1 82826465 [A/C] rs17437521 1 82829953 [T/C] rs1281614 1 82843604 [T/G] rs11163467 1 82848122 [T/C] rs1281603 1 82848779 [T/C] rs946831 1 82850151 [T/C] rs1986902 1 82899747 [A/G] rs11163476 1 82913726 [T/C] rs3863840 1 82934401 [A/G] rs11163482 1 82939537 [T/C] rs10874312 1 82944571 [A/G] rs2026598 1 82949643 [A/G] rs2225083 1 82960385 [A/G] rs7523716 1 82964864 [T/G] exm2260750 1 82965883 [T/C] rs10489862 1 82969372 [A/G] rs2209696 1 82987838 [T/C] rs318405 1 83014374 [A/G] rs318422 1 83019476 [A/G] rs9661164 1 83037900 [A/G] rs4363415 1 83052634 [T/C] rs954572 1 83057803 [A/G] rs11163513 1 83063455 [T/G] rs6604915 1 83066525 [T/C] rs12086858 1 83070865 [T/C] rs2389318 1 83076962 [T/C] rs950269 1 83077523 [A/G] rs10493720 1 83078971 [T/C] rs1493977 1 83083251 [A/G] rs6660986 1 83097971 [A/G] rs6604921 1 83098959 [T/C] rs4662154 1 83107700 [A/G] rs1577991 1 83111268 [A/G] rs409599 1 83112606 [T/C] rs2787985 1 83118044 [T/G] rs1766629 1 83120757 [A/G] rs365222 1 83120822 [A/G] rs1433761 1 83132400 [A/C] rs17108829 1 83136135 [A/G] rs984697 1 83144687 [A/G] rs2641944 1 83166637 [T/C] rs11585110 1 83171984 [T/C] rs10493723 1 83172112 [T/C] exm2268714 1 83172671 [T/C] rs389112 1 83172684 [A/G] rs320922 1 83205734 [A/C] rs7531603 1 83245723 [A/G] rs7532890 1 83253029 [T/C] rs438697 1 83253132 [A/C] rs7536953 1 83257287 [A/G] rs6429838 1 83262934 [A/G] rs6685504 1 83263047 [T/G] rs6660078 1 83266993 [T/C] rs480745 1 83269970 [A/G] rs563093 1 83284562 [A/G] rs12120783 1 83289913 [T/G] rs11163582 1 83297866 [T/C] rs10782797 1 83298665 [A/G] rs11163585 1 83311835 [T/C] exm-rs11163585 1 83311835 [T/C] rs7532665 1 83331118 [A/G] rs988424 1 83339078 [A/G] rs11163602 1 83364553 [A/G] rs7411897 1 83405844 [A/G] rs10782802 1 83447063 [T/G] rs10493734 1 83448642 [T/C] rs6659184 1 83465396 [T/C] rs2184006 1 83474843 [T/C] rs12732417 1 83482870 [A/G] rs12742923 1 83489844 [T/C] rs11163640 1 83493060 [T/C] rs12132477 1 83520031 [T/C] rs2022015 1 83528240 [A/G] rs6676907 1 83548341 [T/C] rs2389394 1 83552647 [T/C] rs2022623 1 83553657 [A/G] rs12072235 1 83561954 [A/G] rs12127333 1 83562338 [A/G] exm2268715 1 83570271 [T/C] rs537877 1 83572881 [T/G] rs6682943 1 83585592 [A/C] rs323940 1 83587246 [T/C] rs10487982 1 83596112 [T/G] rs6664860 1 83597301 [T/C] rs12039790 1 83633428 [T/C] rs12403322 1 83701728 [A/G] rs12033542 1 83712453 [T/G] rs3904791 1 83724335 [T/C] rs3861689 1 83785316 [A/G] rs1856150 1 83808282 [A/G] rs3956418 1 83829357 [A/G] rs12408136 1 83834902 [T/C] rs12139544 1 83863396 [T/C] rs12038205 1 83897416 [T/C] rs4907141 1 83905111 [T/G] rs35835790 1 83905323 [T/C] rs11163752 1 83934440 [T/C] rs12082801 1 83958040 [T/C] rs12723007 1 83958331 [A/G] rs17503362 1 83959631 [A/G] rs7535867 1 83961744 [T/C] rs6660757 1 83971065 [T/G] rs12568728 1 83987643 [T/C] rs4907144 1 84002236 [A/G] rs977889 1 84012000 [A/G] rs12025304 1 84025460 [A/G] rs11585440 1 84028076 [T/C] rs4243779 1 84032625 [T/C] rs6704084 1 84034548 [A/G] rs12082018 1 84054569 [A/G] rs6661191 1 84057173 [A/G] rs4128486 1 84062434 [A/G] rs4907154 1 84062884 [A/G] rs12563303 1 84094411 [A/G] rs8179363 1 84107543 [A/C] rs11163794 1 84111016 [T/C] exm2268906 1 84112571 [T/C] rs4539154 1 84113159 [A/G] rs10782813 1 84116142 [A/G] rs11163798 1 84117891 [T/C] rs12087224 1 84130384 [A/G] rs11485345 1 84134042 [A/G] rs11163801 1 84149799 [T/C] rs11163805 1 84168682 [T/C] rs7414950 1 84172930 [A/G] rs6667561 1 84173558 [T/C] rs6689132 1 84181060 [A/G] rs4636482 1 84190263 [A/G] rs9787364 1 84196920 [T/C] rs9787335 1 84197066 [A/G] rs10782817 1 84201658 [T/C] rs17577039 1 84204198 [A/G] rs6691243 1 84216308 [T/C] rs761401 1 84217159 [T/C] rs6682282 1 84223416 [A/G] rs17129321 1 84234973 [T/C] rs10489502 1 84236661 [T/C] rs11163843 1 84252434 [A/C] exm-rs7552393 1 84254551 [A/G] exm-rs7539409 1 84254735 [A/G] rs6699405 1 84258609 [A/G] rs4140462 1 84269299 [A/G] NR_049805 MIR548AP Silent rs1040576 1 84274266 [T/G] NR_049805 MIR548AP Silent rs12083999 1 84287873 [T/C] NR_049805 MIR548AP Silent exm2264866 1 84295861 [A/G] NR_049805 MIR548AP Silent rs970457 1 84296540 [T/C] NR_049805 MIR548AP Silent rs3738575 1 84296983 [A/G] NR_049805 MIR548AP Silent rs1408477 1 84304441 [T/C] 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 rs1570691 1 84370393 [A/C] NR_049805,NM_024686 MIR548AP,TTLL7 Silent,Silent 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 rs1324486 1 84384825 [A/G] NM_024686 TTLL7 Silent exm70816 1 84415626 [T/A] NM_024686 TTLL7 EXON Missense_D67E exm70817 1 84415640 [T/C] NM_024686 TTLL7 EXON Missense_M63V rs12757632 1 84416408 [T/C] NM_024686 TTLL7 Silent 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 rs12759527 1 84434425 [T/C] NM_024686 TTLL7 Silent rs663136 1 84437311 [T/C] NM_024686 TTLL7 Silent rs10874426 1 84451820 [A/G] NM_024686 TTLL7 Silent rs12401314 1 84480212 [T/G] rs615352 1 84499003 [T/C] rs670564 1 84514988 [A/G] rs3903924 1 84528434 [T/G] rs11163897 1 84539714 [T/C] rs6701486 1 84550849 [A/G] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs12404263 1 84551736 [A/G] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs7546625 1 84552606 [A/G] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent exm2253446 1 84555908 [T/C] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs2812452 1 84576203 [A/G] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs12057561 1 84584894 [T/C] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent rs12723299 1 84590315 [T/C] NM_002731,NM_207578 PRKACB,PRKACB Silent,Silent variant.4448 1 84610102 [T/C] NM_002731,NM_207578,NM_182948 PRKACB,PRKACB,PRKACB EXON Silent,Silent,Nonsense_Q20X rs903263 1 84622513 [T/G] NM_002731,NM_207578,NM_182948 PRKACB,PRKACB,PRKACB Silent,Silent,Silent rs7547892 1 84658591 [A/G] NM_002731,NM_207578,NM_182948,NM_001242859,NM_001242857,NM_001242858,NM_001242860,NM_001242861,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm70843 1 84662335 [A/G] NM_002731,NM_207578,NM_182948,NM_001242859,NM_001242857,NM_001242858,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_V159V,Synonymous_V140V,Synonymous_V158V,Synonymous_V122V,Synonymous_V139V exm2253450 1 84662335 [A/G] NM_002731,NM_207578,NM_182948,NM_001242859,NM_001242857,NM_001242858,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_V159V,Synonymous_V140V,Synonymous_V158V,Synonymous_V122V,Synonymous_V139V exm70852 1 84679969 [T/C] NM_002731,NM_182948,NM_001242859,NM_001242857,NM_001242858,NM_001242860,NM_001242861,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB EXON Missense_T300M,Missense_T347M,Missense_T304M,Missense_T307M,Missense_T288M,Missense_T306M,Missense_T270M,Missense_T287M rs970318 1 84682179 [A/G] NM_002731,NM_182948,NM_001242859,NM_001242857,NM_001242858,NM_001242860,NM_001242861,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11163923 1 84700766 [T/C] NM_002731,NM_182948,NM_001242859,NM_001242857,NM_001242858,NM_001242860,NM_001242861,NM_001242862 PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB,PRKACB Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs787858 1 84705481 [A/C] rs605969 1 84720173 [A/G] rs4907047 1 84720776 [A/G] rs634904 1 84722102 [A/G] rs583720 1 84722166 [A/G] rs316686 1 84735710 [A/G] rs11163939 1 84759423 [T/C] rs813056 1 84760218 [A/C] rs784833 1 84761174 [A/G] 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 rs315552 1 84795283 [T/G] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 Silent,Silent,Silent indel.4450 1 84815430 [I/D] NM_001010971,NM_001134663,NM_001134664 SAMD13,SAMD13,SAMD13 EXON rs642774 1 84843465 [T/C] NR_003927 UOX Silent rs576888 1 84853611 [A/C] NR_003927 UOX Silent rs3738573 1 84864256 [G/C] NM_021233 DNASE2B EXON Missense_Q3H exm70895 1 84864256 [G/C] NM_021233 DNASE2B EXON Missense_Q3H var_1_84864377 1 84864377 [A/G] NM_021233 DNASE2B Silent rs12144715 1 84865230 [A/T] NM_021233 DNASE2B Silent rs1246386 1 84867148 [T/G] NM_021233 DNASE2B Silent exm70908 1 84867741 [T/C] NM_021233 DNASE2B EXON Missense_Y95H exm70909 1 84867754 [C/G] NM_021233 DNASE2B EXON Missense_A99G rs507772 1 84871923 [A/G] NM_021233 DNASE2B Silent indel.4454 1 84874130 [D/I] NM_021233,NM_058248 DNASE2B,DNASE2B EXON exm70911 1 84874162 [T/A] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Nonsense_K116X,Silent variant.4456 1 84876533 [A/G] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Nonsense_W133X,Silent exm70918 1 84876560 [T/G] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Missense_I142S,Silent variant.4457 1 84876625 [T/C] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Nonsense_R164X,Silent exm70925 1 84876680 [T/C] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Missense_I182T,Silent rs7511984 1 84878228 [T/C] NM_021233,NM_058248 DNASE2B,DNASE2B EXON Synonymous_D248D,Synonymous_D40D 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 rs7512262 1 84896062 [A/G] rs6677436 1 84915300 [T/C] rs2066197 1 84917707 [A/G] rs12729133 1 84922553 [T/C] exm70941 1 84944975 [T/C] NM_025065 RPF1 EXON Missense_A4V exm70942 1 84944978 [A/G] NM_025065 RPF1 EXON Missense_G5E rs2292191 1 84944989 [A/G] NM_025065 RPF1 EXON Missense_S9G 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 rs4907076 1 84947055 [A/G] NM_025065 RPF1 Silent exm70961 1 84948653 [A/C] NM_025065 RPF1 EXON Missense_T114N newrs143563141 1 84948676 [T/G] NM_025065 RPF1 EXON Nonsense_E122X indel.4462 1 84948694 [I/D] NM_025065 RPF1 rs11163981 1 84953415 [A/G] NM_025065 RPF1 Silent rs11163983 1 84955233 [T/C] NM_025065 RPF1 Silent 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 rs7524576 1 84959734 [A/G] NM_025065 RPF1 Silent exm70975 1 84961108 [A/G] NM_025065 RPF1 EXON Missense_M223I rs7528067 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 variant.4466 1 84982079 [A/G] rs6698596 1 84996604 [T/C] rs6576713 1 85003568 [T/C] rs17111283 1 85014989 [A/G] rs1043493 1 85020649 [T/C] NM_004388 CTBS EXON Silent exm71046 1 85020683 [C/G] NM_004388 CTBS EXON Missense_X386S exm71047 1 85020695 [A/G] NM_004388 CTBS EXON Missense_L382P indel.4469 1 85020714 [D/I] NM_004388 CTBS EXON variant.4470 1 85020735 [A/G] NM_004388 CTBS EXON Nonsense_Q369X 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 rs2994953 1 85031630 [A/G] NM_004388 CTBS EXON Synonymous_I197I 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 indel.4471 1 85036314 [I/D] NM_004388 CTBS EXON exm2233875 1 85036315 [A/G] NM_004388 CTBS EXON Missense_S89L variant.4472 1 85036404 [T/C] NM_004388 CTBS Silent rs2945152 1 85048641 [T/C] rs2945145 1 85062615 [A/C] rs2911603 1 85070877 [T/C] rs2945133 1 85091557 [T/C] exm71114 1 85113229 [A/G] NM_001166417,NM_001166293,NM_001166295,NM_001166294,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_C578R,Missense_C578R,Missense_C551R,Missense_C551R,Missense_C578R rs2994939 1 85114537 [T/C] NM_001166417,NM_001166293,NM_001166295,NM_001166294,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP Silent,Silent,Silent,Silent,Silent exm71121 1 85116142 [G/C] NM_001166417,NM_001166293,NM_001166295,NM_001166294,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_G525R,Missense_G525R,Missense_G498R,Missense_G498R,Missense_G525R exm2233876 1 85116153 [T/C] NM_001166417,NM_001166293,NM_001166295,NM_001166294,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_S521N,Missense_S521N,Missense_S494N,Missense_S494N,Missense_S521N var_1_85121690 1 85121690 [T/C] NM_001166417,NM_001166293,NM_001166295,NM_001166294,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP Silent,Silent,Silent,Silent,Silent exm71145 1 85124142 [T/C] NM_001166417,NM_001166293,NM_001166295,NM_001166294,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_D313N,Missense_D313N,Missense_D286N,Missense_D286N,Missense_D313N rs2911562 1 85126143 [T/C] NM_001166417,NM_001166293,NM_001166295,NM_001166294,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP Silent,Silent,Silent,Silent,Silent indel.4477 1 85136391 [I/D] NM_001166417,NM_001166293,NM_001166295,NM_001166294,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON exm71174 1 85136884 [T/C] NM_001166417,NM_001166293,NM_001166295,NM_001166294,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP EXON Missense_V7I,Missense_V7I,Silent,Silent,Missense_V7I rs6687220 1 85140555 [T/G] NM_001166417,NM_001166293,NM_001166295,NM_001166294,NM_014021 SSX2IP,SSX2IP,SSX2IP,SSX2IP,SSX2IP Silent,Silent,Silent,Silent,Silent rs11164043 1 85167337 [T/C] exm2260778 1 85206477 [T/C] rs11161441 1 85212582 [T/C] exm2268717 1 85213900 [T/C] rs4471288 1 85214543 [T/C] rs1770566 1 85227586 [A/G] rs1750485 1 85229561 [T/C] rs1326004 1 85242494 [T/C] rs9724696 1 85246297 [A/G] rs9728120 1 85259661 [A/G] rs10782528 1 85268208 [A/G] rs11161458 1 85271708 [A/G] rs17115896 1 85273362 [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 rs9728717 1 85290409 [T/C] NM_012152 LPAR3 Silent rs1409213 1 85290827 [A/G] NM_012152 LPAR3 Silent rs11161464 1 85298111 [A/G] NM_012152 LPAR3 Silent exm-rs1983853 1 85311192 [T/C] NM_012152 LPAR3 Silent rs4907103 1 85316840 [T/G] NM_012152 LPAR3 Silent exm2268718 1 85316840 [T/G] NM_012152 LPAR3 Silent rs10873661 1 85328096 [A/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 variant.4478 1 85331367 [A/G] NM_012152 LPAR3 EXON Missense_T146I exm71210 1 85331400 [T/C] NM_012152 LPAR3 EXON Missense_R135Q exm71212 1 85331431 [T/C] NM_012152 LPAR3 EXON Missense_V125M indel.4480 1 85331763 [I/D] NM_012152 LPAR3 EXON rs7512497 1 85335709 [A/G] NM_012152 LPAR3 Silent rs4907105 1 85340005 [A/C] NM_012152 LPAR3 Silent rs1886647 1 85354563 [A/G] NM_012152 LPAR3 Silent rs12023575 1 85366164 [T/C] rs4907110 1 85371265 [T/C] rs4907013 1 85371391 [A/G] rs1536120 1 85382107 [A/G] rs12136250 1 85384472 [A/G] variant.4481 1 85395240 [A/C] NM_153259 MCOLN2 Silent var_1_85395281 1 85395281 [A/C] NM_153259 MCOLN2 EXON Nonsense_E542X rs607345 1 85396158 [T/C] NM_153259 MCOLN2 Silent exm71248 1 85397076 [A/G] NM_153259 MCOLN2 EXON Missense_A504V rs1325277 1 85400114 [A/C] NM_153259 MCOLN2 Silent rs634294 1 85402997 [A/G] NM_153259 MCOLN2 Silent 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 indel.4486 1 85406665 [I/D] NM_153259 MCOLN2 EXON 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 rs570564 1 85413765 [T/C] NM_153259 MCOLN2 Silent exm71291 1 85417927 [A/G] NM_153259 MCOLN2 EXON Missense_T249M variant.4488 1 85418129 [T/C] NM_153259 MCOLN2 EXON Missense_R217Q rs504504 1 85420044 [A/C] NM_153259 MCOLN2 Silent rs632545 1 85422061 [T/C] NM_153259 MCOLN2 Silent newrs148979230 1 85431301 [T/G] NM_153259 MCOLN2 EXON Nonsense_Y56X exm71324 1 85431317 [T/C] NM_153259 MCOLN2 EXON Missense_S51N rs6691970 1 85450920 [T/C] NM_153259 MCOLN2 Silent exm71330 1 85462498 [T/C] NM_153259 MCOLN2 EXON Missense_V20I rs10873679 1 85467045 [T/C] rs12730329 1 85481700 [A/C] rs7522239 1 85484366 [A/G] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Silent,Silent rs10782537 1 85484473 [T/C] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Silent,Silent exm1914629 1 85484931 [T/G] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Missense_Q513K,Missense_Q457K variant.4494 1 85486748 [A/C] NM_018298,NM_001253693 MCOLN3,MCOLN3 Silent,Silent exm1914635 1 85487850 [A/G] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Missense_A408V,Missense_A352V indel.4496 1 85487860 [D/I] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON variant.4497 1 85487981 [T/C] NM_018298,NM_001253693 MCOLN3,MCOLN3 Silent,Silent exm71360 1 85487982 [A/G] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Synonymous_N399N,Synonymous_N343N variant.4499 1 85488006 [T/G] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Nonsense_Y391X,Nonsense_Y335X newrs187985308 1 85488011 [A/G] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Nonsense_R390X,Nonsense_R334X exm71363 1 85488011 [A/G] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Nonsense_R390X,Nonsense_R334X exm71365 1 85488072 [A/C] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Missense_S369R,Missense_S313R rs7529904 1 85490566 [T/C] NM_018298,NM_001253693 MCOLN3,MCOLN3 Silent,Silent exm71382 1 85498408 [G/C] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Missense_L235V,Missense_L179V variant.4501 1 85498411 [A/C] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Nonsense_E234X,Nonsense_E178X exm71386 1 85498555 [T/C] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Missense_R212K,Missense_R156K variant.4502 1 85498555 [T/C] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Missense_R212K,Missense_R156K exm71387 1 85498591 [A/G] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Missense_A200V,Missense_A144V exm1914650 1 85499832 [T/C] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Missense_N167D,Missense_N111D exm71394 1 85499910 [T/C] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Missense_V141I,Missense_V85I variant.4503 1 85506692 [T/C] NM_018298,NM_001253693 MCOLN3,MCOLN3 Silent,Silent variant.4504 1 85510878 [A/G] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Nonsense_R56X,Nonsense_R56X exm71404 1 85510898 [G/C] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Missense_P49R,Missense_P49R exm71411 1 85510965 [A/C] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Missense_S27A,Missense_S27A exm71412 1 85510985 [T/C] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Missense_C20Y,Missense_C20Y exm71413 1 85510988 [T/C] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON Missense_R19H,Missense_R19H indel.4506 1 85511004 [I/D] NM_018298,NM_001253693 MCOLN3,MCOLN3 EXON rs6695223 1 85531711 [T/C] NM_145172 WDR63 Silent exm-IND1-85310248 1 85537661 [I/D] NM_145172 WDR63 EXON variant.4507 1 85538780 [A/G] NM_145172 WDR63 Silent rs12079571 1 85541164 [T/C] NM_145172 WDR63 Silent rs7517848 1 85541721 [T/C] NM_145172 WDR63 Silent 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 rs1542427 1 85554402 [T/C] NM_145172 WDR63 Silent exm71445 1 85555822 [T/C] NM_145172 WDR63 EXON Missense_T255M rs1770691 1 85556791 [A/G] NM_145172 WDR63 Silent exm71449 1 85559205 [A/G] NM_145172 WDR63 EXON Missense_A308T exm71452 1 85559271 [A/G] NM_145172 WDR63 EXON Missense_D330N rs709767 1 85561954 [A/G] NM_145172 WDR63 Silent exm2233887 1 85563277 [A/C] NM_145172 WDR63 EXON Missense_H430P rs1026469 1 85568972 [A/G] NM_145172 WDR63 Silent rs709760 1 85574748 [T/C] NM_145172 WDR63 Silent rs817482 1 85578057 [T/C] NM_145172 WDR63 Silent exm71483 1 85583460 [T/C] NM_145172 WDR63 EXON Missense_P612L rs4556376 1 85584046 [T/C] NM_145172 WDR63 Silent rs1026468 1 85588015 [T/C] NM_145172 WDR63 Silent exm71487 1 85589842 [A/G] NM_145172 WDR63 EXON Missense_T674A exm71493 1 85589914 [A/G] NM_145172 WDR63 EXON Missense_I698V indel.4514 1 85592231 [D/I] NM_145172 WDR63 EXON variant.4515 1 85592284 [T/C] NM_145172 WDR63 EXON Nonsense_R735X 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 rs817476 1 85596749 [T/C] NM_145172 WDR63 Silent exm71521 1 85598596 [A/G] NM_145172 WDR63 EXON Missense_S864N rs1870327 1 85602412 [T/C] rs12750492 1 85615649 [A/G] 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 indel.4518 1 85624595 [D/I] NM_032184 SYDE2 EXON exm71534 1 85624690 [T/C] NM_032184 SYDE2 EXON Missense_V1110M exm71538 1 85624837 [T/C] NM_032184 SYDE2 EXON Missense_M1061V rs817413 1 85625855 [T/G] NM_032184 SYDE2 Silent variant.4519 1 85630204 [T/C] NM_032184 SYDE2 Silent exm71544 1 85634847 [A/C] NM_032184 SYDE2 EXON Missense_E911D rs2054238 1 85641427 [T/C] NM_032184 SYDE2 Silent indel.4520 1 85643865 [I/D] NM_032184 SYDE2 EXON indel.4521 1 85643885 [I/D] NM_032184 SYDE2 EXON exm71551 1 85643954 [A/G] NM_032184 SYDE2 EXON Missense_V849A rs17122989 1 85647868 [T/C] NM_032184 SYDE2 EXON Synonymous_Q819Q exm71560 1 85647999 [C/G] NM_032184 SYDE2 EXON Missense_H776D indel.4523 1 85648077 [D/I] NM_032184 SYDE2 EXON variant.4524 1 85648161 [A/G] NM_032184 SYDE2 EXON Nonsense_R722X variant.4525 1 85648229 [T/G] NM_032184 SYDE2 EXON Nonsense_S699X indel.4526 1 85648463 [D/I] NM_032184 SYDE2 EXON indel.4527 1 85648468 [D/I] NM_032184 SYDE2 EXON 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 variant.4529 1 85648755 [A/G] NM_032184 SYDE2 EXON Nonsense_R524X exm71587 1 85648873 [G/C] NM_032184 SYDE2 EXON Missense_I484M rs11161539 1 85648905 [T/C] NM_032184 SYDE2 Silent rs11161543 1 85653831 [A/G] NM_032184 SYDE2 Silent 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 rs4907139 1 85662851 [A/G] NM_032184 SYDE2 Silent variant.4533 1 85665930 [T/C] NM_032184 SYDE2 Silent 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 rs11161548 1 85680408 [A/G] rs10218661 1 85681278 [A/C] rs12065219 1 85682261 [T/C] rs963208 1 85686552 [T/C] rs6660237 1 85696004 [A/G] rs9432848 1 85700596 [A/G] rs7524465 1 85704193 [A/C] rs10782546 1 85716807 [A/G] NM_198077,NR_024113 C1orf52,C1orf52 EXON Silent,Silent exm71636 1 85718340 [A/G] NM_198077,NR_024113 C1orf52,C1orf52 EXON Missense_P174L,Silent rs10158486 1 85720007 [T/C] NM_198077,NR_024113 C1orf52,C1orf52 Silent,Silent exm71639 1 85724289 [T/C] NM_198077,NR_024113 C1orf52,C1orf52 EXON Missense_I131M,Silent rs11161573 1 85724581 [A/G] NM_198077,NR_024113 C1orf52,C1orf52 Silent,Silent exm71646 1 85725118 [T/C] NM_198077,NR_024113 C1orf52,C1orf52 EXON Missense_T67A,Silent rs11161574 1 85727044 [T/C] rs12143319 1 85727335 [A/G] rs2647394 1 85729987 [A/G] rs962409 1 85732941 [A/C] NM_003921 BCL10 EXON Silent variant.4537 1 85733318 [A/G] NM_003921 BCL10 EXON Nonsense_R232X 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 rs11161581 1 85738395 [A/G] NM_003921 BCL10 Silent rs4949927 1 85740024 [T/C] NM_003921 BCL10 Silent exm71678 1 85742023 [A/C] NM_003921 BCL10 EXON Missense_A5S rs2735591 1 85744472 [A/G] rs2030075 1 85763899 [T/C] rs12098220 1 85765619 [T/C] rs11587512 1 85765798 [A/G] rs233100 1 85772009 [A/G] rs233112 1 85785751 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 EXON Silent,Silent rs3813600 1 85786166 [A/G] NM_001134445,NM_012137 DDAH1,DDAH1 EXON Silent,Silent rs1498374 1 85787334 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent exm1915228 1 85790511 [A/G] NM_001134445,NM_012137 DDAH1,DDAH1 EXON Missense_I115T,Missense_I218T exm71693 1 85790541 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 EXON Missense_R105H,Missense_R208H rs233130 1 85795112 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent exm71696 1 85816136 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 EXON Missense_A84T,Missense_A187T variant.4539 1 85817221 [A/G] NM_001134445,NM_012137 DDAH1,DDAH1 EXON Nonsense_R46X,Nonsense_R149X rs233044 1 85828840 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs233051 1 85838413 [A/G] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs11161606 1 85853902 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs1975755 1 85882905 [A/G] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs7521189 1 85889596 [A/G] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs1523993 1 85899128 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs593728 1 85902045 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs539714 1 85904338 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs11161616 1 85907625 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs1146382 1 85918101 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs877041 1 85923920 [A/G] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs12568675 1 85924464 [T/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs480414 1 85927463 [A/G] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent rs527762 1 85929214 [A/C] NM_001134445,NM_012137 DDAH1,DDAH1 Silent,Silent exm71716 1 85930469 [A/G] NM_001134445,NM_012137 DDAH1,DDAH1 EXON Silent,Missense_T87M exm71718 1 85930482 [C/G] NM_001134445,NM_012137 DDAH1,DDAH1 EXON Silent,Missense_V83L exm71721 1 85930530 [C/G] NM_001134445,NM_012137 DDAH1,DDAH1 EXON Silent,Missense_A67P rs1403956 1 85933638 [A/G] NM_001134445 DDAH1 Silent rs10158333 1 85939476 [T/C] NM_001134445 DDAH1 Silent rs512298 1 85942879 [A/G] NM_001134445 DDAH1 Silent rs562080 1 85954113 [T/G] NM_001134445 DDAH1 Silent rs17099243 1 85955709 [A/G] NM_001134445 DDAH1 Silent rs1361714 1 85960156 [A/G] NM_001134445 DDAH1 Silent exm2268908 1 85970975 [T/G] NM_001134445 DDAH1 Silent rs677691 1 85974030 [A/C] NM_001134445 DDAH1 Silent rs17099679 1 86008398 [A/G] NM_001134445 DDAH1 Silent rs11161637 1 86021169 [A/G] NM_001134445 DDAH1 Silent rs1378227 1 86028530 [T/C] NM_001134445 DDAH1 Silent rs10493772 1 86035513 [T/C] NM_001134445 DDAH1 Silent rs3753793 1 86045888 [A/C] 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 rs1329961 1 86050700 [T/C] rs7518036 1 86064486 [A/G] rs2389969 1 86069153 [T/C] rs4949915 1 86073045 [A/G] rs12061951 1 86081453 [T/C] rs2069208 1 86117583 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Silent,Silent exm71777 1 86123563 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_G408R,Missense_G447R rs10493773 1 86125753 [A/G] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 Silent,Silent rs821383 1 86132860 [A/G] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 Silent,Silent 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 variant.4544 1 86171989 [A/G] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Nonsense_R219X,Nonsense_R258X exm71810 1 86172163 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Synonymous_A189A,Synonymous_A228A exm2253504 1 86172163 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Synonymous_A189A,Synonymous_A228A rs952837 1 86172978 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 Silent,Silent 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 indel.4546 1 86173763 [D/I] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON exm71839 1 86173943 [T/C] NM_001170670,NM_017953 ZNHIT6,ZNHIT6 EXON Missense_G9R,Missense_G9R rs1764285 1 86174563 [T/C] rs1047893 1 86195047 [T/C] NM_152890 COL24A1 EXON Silent 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 rs7530774 1 86202659 [T/C] NM_152890 COL24A1 Silent 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 rs313728 1 86245155 [T/C] NM_152890 COL24A1 Silent rs12563027 1 86247318 [A/G] NM_152890 COL24A1 Silent 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 rs313733 1 86259699 [A/G] NM_152890 COL24A1 Silent rs366187 1 86265259 [A/G] NM_152890 COL24A1 Silent rs12727784 1 86268032 [A/G] NM_152890 COL24A1 Silent rs313740 1 86272858 [A/G] NM_152890 COL24A1 Silent rs12239978 1 86273786 [T/C] NM_152890 COL24A1 Silent variant.4551 1 86282479 [A/C] NM_152890 COL24A1 EXON Nonsense_G1315X indel.4552 1 86283718 [I/D] NM_152890 COL24A1 EXON 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 rs11161686 1 86301180 [T/C] NM_152890 COL24A1 Silent exm71913 1 86304282 [T/C] NM_152890 COL24A1 EXON Missense_A1223T exm71914 1 86304311 [G/C] NM_152890 COL24A1 EXON Missense_G1213A rs313702 1 86309622 [T/C] NM_152890 COL24A1 Silent rs12759687 1 86328120 [T/C] NM_152890 COL24A1 Silent rs313769 1 86333141 [T/C] NM_152890 COL24A1 Silent variant.4554 1 86334202 [T/C] NM_152890 COL24A1 EXON Synonymous_P1100P exm71929 1 86334302 [C/G] NM_152890 COL24A1 EXON Missense_P1067R exm71932 1 86334472 [A/C] NM_152890 COL24A1 EXON Missense_G1062V rs1072508 1 86345486 [A/G] NM_152890 COL24A1 Silent rs12755267 1 86350554 [T/C] NM_152890 COL24A1 Silent rs11589719 1 86352629 [T/C] NM_152890 COL24A1 Silent exm71954 1 86355295 [T/C] NM_152890 COL24A1 EXON Missense_G975D variant.4557 1 86355298 [T/C] NM_152890 COL24A1 Silent 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 rs6703317 1 86378429 [A/G] NM_152890 COL24A1 Silent rs12136742 1 86380987 [A/G] NM_152890 COL24A1 Silent rs11161711 1 86412177 [T/C] NM_152890 COL24A1 Silent rs605060 1 86416725 [A/G] NM_152890 COL24A1 Silent rs6665006 1 86424650 [T/C] NM_152890 COL24A1 Silent rs560876 1 86425382 [T/C] NM_152890 COL24A1 Silent variant.4562 1 86430692 [A/C] NM_152890 COL24A1 EXON Missense_K839N exm71982 1 86435932 [T/G] NM_152890 COL24A1 EXON Missense_A814D rs593146 1 86439443 [A/G] NM_152890 COL24A1 Silent rs10493780 1 86450400 [T/C] NM_152890 COL24A1 Silent exm2268719 1 86457334 [T/C] NM_152890 COL24A1 Silent rs12120406 1 86459250 [A/G] NM_152890 COL24A1 Silent rs7547149 1 86463845 [T/C] NM_152890 COL24A1 Silent rs17128651 1 86465736 [A/G] NM_152890 COL24A1 Silent rs12040977 1 86466085 [T/C] NM_152890 COL24A1 Silent rs585708 1 86468500 [A/G] NM_152890 COL24A1 Silent rs9701002 1 86469506 [A/C] NM_152890 COL24A1 Silent rs6679444 1 86479771 [T/C] NM_152890 COL24A1 Silent rs11161721 1 86487914 [A/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 rs641712 1 86488232 [A/G] NM_152890 COL24A1 EXON Missense_P731S exm2253513 1 86488239 [A/G] NM_152890 COL24A1 EXON Synonymous_P728P variant.4564 1 86488516 [A/C] NM_152890 COL24A1 EXON Missense_K716N exm72011 1 86488559 [A/C] NM_152890 COL24A1 EXON Missense_G702V exm72014 1 86488689 [T/C] NM_152890 COL24A1 EXON Missense_G684D rs565860 1 86490043 [T/C] NM_152890 COL24A1 Silent variant.4566 1 86499553 [A/C] NM_152890 COL24A1 EXON Synonymous_P668P exm72017 1 86499587 [A/C] NM_152890 COL24A1 EXON Missense_G657V rs695051 1 86501618 [A/G] NM_152890 COL24A1 Silent rs17128768 1 86507592 [A/C] NM_152890 COL24A1 Silent 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 rs12742014 1 86529390 [A/G] NM_152890 COL24A1 Silent rs4912461 1 86547798 [T/G] NM_152890 COL24A1 Silent rs10782563 1 86552269 [T/C] NM_152890 COL24A1 Silent indel.4569 1 86554875 [D/I] NM_152890 COL24A1 EXON rs11161732 1 86557967 [A/G] NM_152890 COL24A1 EXON Missense_P546S exm72037 1 86557967 [A/G] NM_152890 COL24A1 EXON Missense_P546S indel.4570 1 86557987 [D/I] NM_152890 COL24A1 EXON rs1605416 1 86563718 [A/C] NM_152890 COL24A1 Silent rs12024954 1 86579895 [T/C] NM_152890 COL24A1 Silent rs6680321 1 86584695 [T/C] NM_152890 COL24A1 Silent rs4631724 1 86587726 [T/G] NM_152890 COL24A1 Silent variant.4571 1 86590528 [A/G] NM_152890 COL24A1 EXON Synonymous_P497P 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 rs1027819 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 rs1507264 1 86592526 [A/G] NM_152890 COL24A1 Silent rs1507263 1 86593968 [T/C] NM_152890 COL24A1 Silent rs1507262 1 86594301 [T/C] NM_152890 COL24A1 Silent rs7516054 1 86603942 [T/C] NM_152890 COL24A1 Silent rs12070992 1 86621256 [A/G] NM_152890 COL24A1 Silent exm2275214 1 86622024 [A/G] NM_152890 COL24A1 EXON Missense_T19M rs1112865 1 86635245 [T/C] rs1507279 1 86641674 [T/C] rs1108395 1 86651383 [T/C] rs10873761 1 86653341 [T/C] rs1507269 1 86664081 [T/C] rs1507290 1 86684713 [A/G] rs6576821 1 86697145 [A/C] rs7519336 1 86717874 [T/C] rs6420973 1 86720853 [T/C] rs7546158 1 86736880 [T/C] rs1998450 1 86745177 [T/C] rs7513039 1 86745979 [T/C] rs1323029 1 86769951 [A/G] rs969396 1 86773046 [A/G] rs272487 1 86805880 [T/C] exm72127 1 86818544 [T/C] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_S578G,Missense_S549G,Missense_S631G,Missense_S615G exm72134 1 86818610 [T/A] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_L556I,Missense_L527I,Missense_L609I,Missense_L593I exm72135 1 86818637 [T/C] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_R547G,Missense_R518G,Missense_R600G,Missense_R584G rs1182098 1 86820267 [T/C] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Synonymous_E518E,Synonymous_E489E,Synonymous_E571E,Synonymous_E555E var_1_86820290 1 86820290 [I/D] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON variant.4578 1 86820482 [A/G] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Nonsense_Q474X,Nonsense_Q445X,Nonsense_Q527X,Nonsense_Q511X exm72147 1 86822204 [T/C] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Silent,Silent,Missense_E481K,Missense_E452K exm2253528 1 86822226 [T/C] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Silent,Silent,Synonymous_T473T,Synonymous_T444T rs385437 1 86822231 [A/G] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Silent,Silent,Synonymous_L472L,Synonymous_L443L exm72154 1 86822245 [T/C] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Silent,Silent,Missense_R467H,Missense_R438H exm72155 1 86822246 [A/G] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Silent,Silent,Missense_R467C,Missense_R438C exm72157 1 86822287 [T/G] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L Silent,Silent,Silent,Silent exm72163 1 86824496 [T/C] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_K445E,Missense_K416E,Missense_K445E,Missense_K416E rs272504 1 86833653 [A/G] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L Silent,Silent,Silent,Silent exm72169 1 86834369 [T/C] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_M365V,Silent,Missense_M365V,Silent exm72173 1 86836816 [T/C] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_E314G,Missense_E314G,Missense_E314G,Missense_E314G indel.4587 1 86841963 [I/D] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON exm72189 1 86842044 [T/C] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_A228T,Missense_A228T,Missense_A228T,Missense_A228T rs272516 1 86847955 [A/G] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Synonymous_A198A,Synonymous_A198A,Synonymous_A198A,Synonymous_A198A exm72201 1 86847974 [T/C] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_Q192R,Missense_Q192R,Missense_Q192R,Missense_Q192R exm72202 1 86847987 [A/G] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Nonsense_R188X,Nonsense_R188X,Nonsense_R188X,Nonsense_R188X exm72205 1 86848019 [T/C] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_R177H,Missense_R177H,Missense_R177H,Missense_R177H indel.4596 1 86851248 [D/I] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON newrs146507461 1 86851274 [T/C] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L Silent,Silent,Silent,Silent rs1407719 1 86851420 [A/G] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L Silent,Silent,Silent,Silent exm72220 1 86852608 [A/G] NM_001184765,NM_001184766,NM_001007022,NM_020729 ODF2L,ODF2L,ODF2L,ODF2L EXON Missense_H35Y,Missense_H35Y,Missense_H35Y,Missense_H35Y exm72222 1 86852625 [T/C] NM_001184765,NM_001184766,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 variant.4600 1 86894100 [A/G] NM_006536 CLCA2 Silent exm72264 1 86894231 [T/C] NM_006536 CLCA2 EXON Missense_T152I rs7415758 1 86895953 [A/G] NM_006536 CLCA2 Silent rs3737672 1 86896541 [A/G] NM_006536 CLCA2 Silent exm72279 1 86898101 [T/C] NM_006536 CLCA2 EXON Missense_P212S exm72291 1 86900372 [C/G] NM_006536 CLCA2 EXON Missense_Q306E variant.4603 1 86900433 [A/C] NM_006536 CLCA2 Silent rs1889337 1 86904325 [A/G] NM_006536 CLCA2 Silent 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 var_1_86904640 1 86904641 [D/I] NM_006536 CLCA2 EXON 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 variant.4606 1 86907226 [A/G] NM_006536 CLCA2 EXON Synonymous_Q496Q 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 rs3820039 1 86909703 [T/C] NM_006536 CLCA2 Silent rs2249296 1 86910264 [T/C] NM_006536 CLCA2 Silent 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 rs4656100 1 86917944 [T/C] NM_006536 CLCA2 Silent exm72368 1 86919111 [T/C] NM_006536 CLCA2 EXON Missense_W739R variant.4609 1 86919123 [T/C] NM_006536 CLCA2 EXON Nonsense_R743X 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 indel.4611 1 86921043 [D/I] NM_006536 CLCA2 EXON exm72387 1 86921046 [T/C] NM_006536 CLCA2 EXON Missense_P890S rs4001077 1 86929452 [A/C] 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 variant.4612 1 86939210 [T/G] NM_001285 CLCA1 EXON Nonsense_Y91X exm72407 1 86939461 [A/G] NM_001285 CLCA1 EXON Missense_Y118C exm72411 1 86939540 [A/T] NM_001285 CLCA1 EXON Missense_L144F rs5744329 1 86940715 [A/G] NM_001285 CLCA1 Silent exm72415 1 86942184 [T/C] NM_001285 CLCA1 EXON Missense_Y169H exm72421 1 86948016 [A/C] NM_001285 CLCA1 EXON Missense_S229Y rs2791512 1 86948708 [A/G] NM_001285 CLCA1 Silent exm72427 1 86951099 [A/G] NM_001285 CLCA1 EXON Missense_R270Q variant.4613 1 86951244 [A/G] NM_001285 CLCA1 EXON Synonymous_A318A 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 rs2075630 1 86952601 [A/G] NM_001285 CLCA1 Silent exm72456 1 86959173 [T/C] NM_001285 CLCA1 EXON Missense_M524T rs1321690 1 86959424 [A/C] NM_001285 CLCA1 Silent 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 newrs142699292 1 86960041 [A/G] NM_001285 CLCA1 EXON Missense_A618T 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 rs2791491 1 86962331 [T/G] NM_001285 CLCA1 Silent exm2233904 1 86964276 [T/C] NM_001285 CLCA1 EXON Missense_P712L exm72499 1 86965343 [A/G] NM_001285 CLCA1 EXON Missense_K787R indel.4618 1 86965396 [I/D] NM_001285 CLCA1 EXON rs1882753 1 86965419 [T/C] NM_001285 CLCA1 EXON Synonymous_T812T exm72504 1 86965595 [T/C] NM_001285 CLCA1 EXON Missense_P871L exm72508 1 86965622 [T/C] NM_001285 CLCA1 EXON Missense_T880M variant.4619 1 86965705 [T/G] NM_001285 CLCA1 EXON Nonsense_E908X rs1321686 1 86974115 [T/C] rs10489693 1 86981256 [A/G] rs13376522 1 86986617 [T/C] rs1547036 1 86988622 [A/C] rs2791473 1 86988709 [A/G] exm72516 1 87012929 [T/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_P43S rs2390134 1 87014985 [A/G] NR_024602,NM_012128 CLCA4,CLCA4 Silent,Silent rs974843 1 87015179 [A/G] NR_024602,NM_012128 CLCA4,CLCA4 Silent,Silent exm2265024 1 87015179 [A/G] NR_024602,NM_012128 CLCA4,CLCA4 Silent,Silent newrs148031684 1 87025657 [I/D] NR_024602,NM_012128 CLCA4,CLCA4 EXON exm72520 1 87025754 [A/G] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_H100R indel.4623 1 87025982 [D/I] NR_024602,NM_012128 CLCA4,CLCA4 EXON exm72525 1 87025994 [T/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_T134I indel.4624 1 87025998 [I/D] NR_024602,NM_012128 CLCA4,CLCA4 EXON 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 indel.4625 1 87030985 [D/I] NR_024602,NM_012128 CLCA4,CLCA4 EXON 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 variant.4628 1 87033125 [T/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Nonsense_R325X indel.4629 1 87033130 [D/I] NR_024602,NM_012128 CLCA4,CLCA4 EXON 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 newrs145223695 1 87038389 [T/C] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Nonsense_Q485X 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 newrs190809182 1 87038403 [A/G] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Synonymous_Q489Q indel.4634 1 87038450 [I/D] NR_024602,NM_012128 CLCA4,CLCA4 rs772598 1 87039945 [A/G] NR_024602,NM_012128 CLCA4,CLCA4 Silent,Silent exm2233907 1 87040229 [A/G] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Missense_S492G variant.4635 1 87040324 [A/G] NR_024602,NM_012128 CLCA4,CLCA4 EXON Silent,Nonsense_W523X 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 rs772607 1 87044583 [T/C] NR_024602,NM_012128 CLCA4,CLCA4 Silent,Silent variant.4638 1 87045036 [A/G] NR_024602,NM_012128 CLCA4,CLCA4 Silent,Silent 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 rs10157106 1 87054030 [T/C] rs12758538 1 87061970 [A/G] rs6679741 1 87062201 [A/G] rs6676519 1 87098109 [A/C] rs11161862 1 87100238 [T/G] NR_024604 CLCA3P Silent rs538417 1 87106136 [T/C] NR_024604 CLCA3P Silent rs12070029 1 87129397 [A/C] exm2263827 1 87156469 [A/C] 1KG_1_87181529 1 87181529 [I/D] NM_001206651,NM_016009,NM_001206652,NM_001206653 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON exm72671 1 87185190 [A/G] NM_001206651,NM_016009,NM_001206652,NM_001206653 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON Missense_N72S,Missense_N72S,Missense_N72S,Silent exm72673 1 87185250 [A/G] NM_001206651,NM_016009,NM_001206652,NM_001206653 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON Missense_N92S,Missense_N92S,Missense_N92S,Silent rs263463 1 87188881 [T/C] NM_001206651,NM_016009,NM_001206652,NM_001206653 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 Silent,Silent,Silent,Silent exm72683 1 87194101 [T/C] NM_001206651,NM_016009,NM_001206652,NM_001206653 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON Missense_R196C,Silent,Missense_R196C,Silent indel.4645 1 87200373 [I/D] NM_001206651,NM_016009,NM_001206652,NM_001206653 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON exm2253540 1 87208092 [T/C] NM_001206651,NM_016009,NM_001206652,NM_001206653 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON Synonymous_S350S,Synonymous_S321S,Synonymous_S342S,Synonymous_S221S exm72698 1 87208092 [T/C] NM_001206651,NM_016009,NM_001206652,NM_001206653 SH3GLB1,SH3GLB1,SH3GLB1,SH3GLB1 EXON Synonymous_S350S,Synonymous_S321S,Synonymous_S342S,Synonymous_S221S rs166412 1 87242062 [T/G] rs691531 1 87245278 [T/C] rs1889783 1 87277974 [A/G] rs4282790 1 87293905 [T/C] rs526985 1 87316418 [T/C] rs496114 1 87327273 [T/C] rs540049 1 87328308 [T/C] NM_004261,NM_203341 SEP15,SEP15 EXON Silent,Silent exm72701 1 87329165 [A/G] NM_004261,NM_203341 SEP15,SEP15 EXON Missense_R164C,Silent exm72703 1 87329250 [A/G] NM_004261,NM_203341 SEP15,SEP15 EXON Synonymous_D135D,Nonsense_R119X exm72709 1 87369103 [A/G] NM_004261,NM_203341 SEP15,SEP15 EXON Missense_S38L,Missense_S38L exm72711 1 87369131 [A/C] NM_004261,NM_203341 SEP15,SEP15 EXON Missense_V29L,Missense_V29L rs1407131 1 87378627 [T/C] NM_004261,NM_203341 SEP15,SEP15 Silent,Silent exm72726 1 87379712 [A/G] NM_004261,NM_203341 SEP15,SEP15 EXON Missense_A28V,Missense_A28V exm2253550 1 87379738 [T/C] NM_004261,NM_203341 SEP15,SEP15 EXON Synonymous_R19R,Synonymous_R19R exm72739 1 87380813 [A/C] NM_012262,NM_001134492 HS2ST1,HS2ST1 EXON Missense_Q32K,Missense_Q32K rs487006 1 87381454 [A/C] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent rs4233338 1 87477786 [A/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent rs11584931 1 87485139 [T/C] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent rs10127488 1 87505590 [A/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent rs6696540 1 87506127 [T/C] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent rs4610985 1 87520970 [A/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent rs7529516 1 87522312 [A/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent exm72743 1 87538625 [A/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 EXON Missense_I45V,Missense_I45V variant.4647 1 87538643 [T/C] NM_012262,NM_001134492 HS2ST1,HS2ST1 EXON Nonsense_R51X,Nonsense_R51X rs1778013 1 87554612 [T/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent exm72761 1 87558242 [A/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 EXON Missense_I160V,Missense_I160V indel.4648 1 87558286 [D/I] NM_012262,NM_001134492 HS2ST1,HS2ST1 EXON variant.4649 1 87563519 [A/G] NM_012262,NM_001134492 HS2ST1,HS2ST1 Silent,Silent exm72769 1 87569237 [A/G] NM_012262 HS2ST1 EXON Missense_R270Q exm72775 1 87570209 [A/G] NM_012262 HS2ST1 EXON Missense_I301V var_1_87570305 1 87570305 [T/C] NM_012262 HS2ST1 EXON Nonsense_R333X exm72780 1 87570306 [A/G] NM_012262 HS2ST1 EXON Missense_R333Q exm72783 1 87570335 [T/G] NM_012262 HS2ST1 EXON Missense_A343S rs1886632 1 87610246 [T/C] NR_026989 LOC339524 Silent rs719015 1 87611710 [A/G] NR_026989 LOC339524 Silent exm-rs7553864 1 87613358 [T/C] NR_026989 LOC339524 Silent rs11161935 1 87614191 [A/G] NR_026989 LOC339524 Silent rs1886634 1 87614821 [T/C] NR_026989 LOC339524 Silent rs12092928 1 87628834 [T/C] NR_026989 LOC339524 Silent rs11161939 1 87628868 [A/G] NR_026989 LOC339524 Silent rs4655841 1 87632354 [A/G] NR_026989 LOC339524 Silent rs7512999 1 87641938 [A/G] rs7556318 1 87649865 [A/G] rs12563224 1 87663215 [A/G] rs7554095 1 87681151 [T/C] rs7542364 1 87687466 [A/G] rs10782594 1 87703049 [T/C] rs7540876 1 87708655 [A/G] rs10158460 1 87710877 [T/C] rs4655941 1 87720853 [A/G] rs1330864 1 87722965 [T/C] exm2268720 1 87728007 [T/C] rs7544647 1 87732429 [T/C] rs12035326 1 87739930 [A/G] rs4556331 1 87746998 [A/C] rs4233323 1 87750413 [A/G] rs6688319 1 87752886 [A/C] rs11161973 1 87769531 [T/C] rs10873829 1 87773431 [A/G] rs17129945 1 87773503 [T/C] rs944367 1 87774994 [T/G] rs2144523 1 87781157 [T/G] rs4488005 1 87790813 [T/G] exm2260817 1 87803200 [T/C] NM_006769 LMO4 Silent exm72819 1 87805743 [T/C] NM_006769 LMO4 EXON Missense_S116F rs3766022 1 87808352 [A/G] NM_006769 LMO4 Silent rs17422436 1 87834794 [A/G] NR_038324 LOC100505768 Silent rs12402858 1 87845112 [A/G] rs746191 1 87849215 [A/G] rs12046968 1 87850703 [A/G] rs11161998 1 87854436 [A/G] rs10158426 1 87862181 [T/C] rs7554926 1 87866857 [T/C] rs4655956 1 87868540 [A/G] rs6697170 1 87875198 [T/C] rs1006625 1 87877540 [A/G] rs4295863 1 87903024 [A/C] rs12727441 1 87915254 [T/C] rs6683030 1 87930889 [T/C] rs2065909 1 87934293 [T/C] rs12239121 1 87962437 [T/C] rs10873853 1 87979762 [T/C] rs10782601 1 87988705 [T/C] rs6686199 1 87990070 [A/G] rs10873855 1 87998297 [A/G] rs6657047 1 88001013 [A/G] rs7355015 1 88015080 [T/C] rs6694829 1 88025144 [T/C] exm2253574 1 88035857 [A/G] rs10159232 1 88052301 [A/C] rs9433138 1 88055578 [A/G] rs2390324 1 88071255 [T/C] rs923545 1 88083782 [A/G] rs4655854 1 88086894 [A/C] rs12127587 1 88090813 [A/G] rs2390326 1 88091734 [T/C] rs12090659 1 88100939 [A/G] rs954653 1 88104575 [T/G] rs12137116 1 88109828 [A/G] exm-rs10873862 1 88112646 [T/G] rs17130094 1 88115934 [T/C] rs1490168 1 88117638 [A/G] rs1352652 1 88120252 [T/G] rs983332 1 88132380 [T/G] exm-rs983332 1 88132380 [T/G] rs7536090 1 88161540 [A/C] rs10518396 1 88173396 [T/G] rs10518397 1 88176714 [T/C] rs10493800 1 88177403 [A/G] rs10754317 1 88177836 [A/G] rs305464 1 88185216 [A/G] rs6662386 1 88190037 [T/C] rs305457 1 88195672 [A/G] rs305449 1 88202768 [T/C] rs305444 1 88209341 [T/C] rs17467793 1 88209373 [T/G] rs17130136 1 88213827 [A/C] rs2503259 1 88231787 [T/C] rs305413 1 88232116 [A/G] rs6663225 1 88239954 [T/C] rs2503264 1 88242446 [T/G] rs6679195 1 88257998 [A/G] rs4655988 1 88260539 [T/C] rs2503273 1 88273790 [T/C] rs2491304 1 88317228 [A/G] rs6677939 1 88327760 [A/G] rs1413533 1 88346411 [T/C] rs2503243 1 88350912 [G/C] rs10489944 1 88392864 [A/G] rs2503257 1 88397483 [A/G] rs12741507 1 88402963 [T/G] rs1413527 1 88430037 [T/C] rs1413529 1 88445213 [T/C] rs4655860 1 88448150 [T/C] rs1537560 1 88465247 [T/C] rs7525663 1 88481128 [T/G] rs10922989 1 88484600 [T/C] rs4655999 1 88514365 [A/G] rs10923016 1 88516267 [A/G] rs4656007 1 88522282 [T/C] rs12028716 1 88547243 [T/C] rs10737721 1 88548801 [T/G] rs7516752 1 88562823 [T/C] rs12142415 1 88578657 [T/C] rs6428632 1 88593050 [T/C] rs1932760 1 88603134 [T/G] rs1336578 1 88610289 [T/C] rs10923030 1 88617883 [T/C] rs2390441 1 88633737 [T/C] rs6694280 1 88638931 [A/G] rs4656019 1 88643972 [A/G] rs12567486 1 88645313 [T/C] rs12755168 1 88657007 [T/G] rs6699416 1 88661096 [A/G] rs10801875 1 88663791 [T/C] rs1336573 1 88668577 [T/C] rs10801877 1 88684970 [A/G] rs1932758 1 88685730 [T/C] rs10493805 1 88692175 [A/G] rs6428641 1 88709451 [A/G] rs6428642 1 88710048 [T/C] rs527607 1 88732523 [T/C] rs525002 1 88736621 [A/G] rs1295491 1 88740865 [T/C] exm2253578 1 88745673 [A/G] rs6679982 1 88757128 [T/C] rs566685 1 88767199 [A/G] rs54397 1 88776307 [T/G] rs480054 1 88791432 [A/G] exm-rs2179965 1 88802012 [A/G] rs4656031 1 88802972 [T/C] rs12749687 1 88803250 [C/G] rs926795 1 88823272 [T/C] rs12141716 1 88843632 [T/C] rs2808111 1 88844311 [A/G] rs400666 1 88855885 [T/C] rs4656043 1 88864082 [A/C] rs1587372 1 88882301 [T/C] rs6696560 1 88889925 [T/C] rs12039248 1 88899860 [A/C] rs10801891 1 88906024 [A/G] rs10801892 1 88909218 [T/C] rs10923081 1 88950775 [T/C] rs306333 1 88966843 [T/C] rs12409611 1 88973472 [T/C] rs6674065 1 88986066 [T/C] rs6685860 1 89012137 [A/G] rs306298 1 89020534 [A/G] rs658980 1 89045338 [A/C] rs1760206 1 89069023 [T/C] rs10923117 1 89090212 [A/G] rs12041174 1 89107857 [T/C] rs574740 1 89115413 [T/C] rs7534720 1 89116300 [T/C] exm-rs6699417 1 89123443 [T/C] rs10801678 1 89128650 [A/C] rs12145922 1 89146234 [A/C] rs3806340 1 89148793 [T/G] kgp3073722 1 89151185 [A/G] NM_006256 PKN2 Silent kgp7362365 1 89151598 [T/G] NM_006256 PKN2 Silent exm72832 1 89206740 [A/G] NM_006256 PKN2 EXON Missense_M40V exm72833 1 89206774 [A/G] NM_006256 PKN2 EXON Missense_R51Q rs6704399 1 89222420 [A/G] NM_006256 PKN2 Silent exm2233923 1 89236120 [A/C] NM_006256 PKN2 EXON Missense_A197E rs9651072 1 89237556 [T/C] NM_006256 PKN2 EXON Synonymous_L327L rs10489887 1 89246897 [T/C] NM_006256 PKN2 Silent rs786911 1 89265248 [T/C] NM_006256 PKN2 Silent 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 newrs6671949 1 89273287 [A/G] NM_006256 PKN2 EXON Synonymous_K670K rs786921 1 89286673 [A/G] NM_006256 PKN2 Silent exm72907 1 89299123 [T/C] NM_006256 PKN2 EXON Missense_W983R rs12133012 1 89302955 [T/C] rs7534197 1 89322809 [T/C] NM_001514 GTF2B Silent exm72917 1 89322997 [A/G] NM_001514 GTF2B EXON Missense_R237C indel.4654 1 89325606 [D/I] NM_001514 GTF2B EXON exm2233931 1 89325904 [C/G] NM_001514 GTF2B EXON Missense_S108R rs13376108 1 89350741 [T/C] NM_001514 GTF2B Silent exm72932 1 89352980 [T/C] NM_001514 GTF2B EXON Missense_G30S rs10922501 1 89359789 [T/C] rs7524919 1 89372589 [A/G] rs7538497 1 89384717 [T/G] exm2263828 1 89388944 [A/C] indel.4655 1 89401921 [D/I] NM_001008662,NM_001008661 CCBL2,CCBL2 EXON variant.4656 1 89401929 [T/C] NM_001008662,NM_001008661 CCBL2,CCBL2 Silent,Silent exm72941 1 89408756 [T/C] NM_001008662,NM_001008661 CCBL2,CCBL2 EXON Missense_V378I,Missense_V412I exm72945 1 89409105 [A/G] NM_001008662,NM_001008661 CCBL2,CCBL2 EXON Synonymous_D347D,Synonymous_D381D exm72947 1 89414776 [A/T] NM_001008662,NM_001008661 CCBL2,CCBL2 EXON Missense_L346Q,Missense_L380Q exm72951 1 89414924 [A/G] NM_001008662,NM_001008661 CCBL2,CCBL2 EXON Missense_R297C,Missense_R331C exm72952 1 89414937 [A/C] NM_001008662,NM_001008661 CCBL2,CCBL2 EXON Missense_W292C,Missense_W326C rs1325923 1 89415576 [T/C] NM_001008662,NM_001008661 CCBL2,CCBL2 Silent,Silent rs2765524 1 89417695 [T/C] NM_001008662,NM_001008661 CCBL2,CCBL2 Silent,Silent exm72956 1 89418744 [A/C] NM_001008662,NM_001008661 CCBL2,CCBL2 Silent,Silent exm2273659 1 89420851 [A/G] NM_001008662,NM_001008661 CCBL2,CCBL2 EXON Missense_F248S,Missense_F282S exm72963 1 89420907 [A/G] NM_001008662,NM_001008661 CCBL2,CCBL2 EXON Synonymous_A229A,Synonymous_A263A rs3738055 1 89426902 [A/G] NM_001008662,NM_001008661 CCBL2,CCBL2 EXON Synonymous_S211S,Synonymous_S245S exm1918330 1 89426919 [T/C] NM_001008662,NM_001008661 CCBL2,CCBL2 EXON Missense_D206N,Missense_D240N exm72965 1 89426928 [T/C] NM_001008662,NM_001008661 CCBL2,CCBL2 EXON Missense_I203V,Missense_I237V exm72970 1 89427086 [A/G] NM_001008662,NM_001008661 CCBL2,CCBL2 EXON Missense_T181I,Missense_T215I exm72972 1 89427095 [A/G] NM_001008662,NM_001008661 CCBL2,CCBL2 EXON Missense_I178T,Missense_I212T exm72981 1 89427821 [A/G] NM_001008662,NM_001008661 CCBL2,CCBL2 EXON Missense_L120P,Missense_L154P variant.4663 1 89430663 [T/C] NM_001008662,NM_001008661 CCBL2,CCBL2 Silent,Silent variant.4664 1 89434361 [A/G] NM_001008662,NM_001008661 CCBL2,CCBL2 EXON Nonsense_R65X,Nonsense_R99X variant.4665 1 89434399 [T/G] NM_001008662,NM_001008661 CCBL2,CCBL2 EXON Nonsense_S52X,Nonsense_S86X variant.4666 1 89435087 [T/C] NM_001008662,NM_001008661 CCBL2,CCBL2 Silent,Silent exm72996 1 89435119 [T/C] NM_001008662,NM_001008661 CCBL2,CCBL2 EXON Missense_R10Q,Missense_R44Q indel.4667 1 89448472 [I/D] NM_001008662,NM_001008661,NM_001162536,NM_019610 CCBL2,CCBL2,RBMXL1,RBMXL1 EXON exm2233937 1 89448812 [T/G] NM_001008662,NM_001008661,NM_001162536,NM_019610 CCBL2,CCBL2,RBMXL1,RBMXL1 EXON Silent,Silent,Missense_D233A,Missense_D233A indel.4668 1 89449211 [D/I] NM_001008662,NM_001008661,NM_001162536,NM_019610 CCBL2,CCBL2,RBMXL1,RBMXL1 EXON exm73045 1 89449218 [A/G] NM_001008662,NM_001008661,NM_001162536,NM_019610 CCBL2,CCBL2,RBMXL1,RBMXL1 EXON Silent,Silent,Missense_P98S,Missense_P98S exm73069 1 89453956 [G/C] NM_001008662,NM_001008661,NM_001162536,NM_019610 CCBL2,CCBL2,RBMXL1,RBMXL1 EXON Silent,Missense_I26M,Silent,Silent rs7548065 1 89461232 [T/G] exm2268910 1 89467787 [T/C] rs10922537 1 89472592 [A/G] NM_018284 GBP3 EXON Silent rs12085660 1 89472853 [T/C] NM_018284 GBP3 EXON Silent rs2077694 1 89473134 [T/C] NM_018284 GBP3 EXON Silent rs1409150 1 89473175 [T/C] NM_018284 GBP3 EXON Silent exm73079 1 89473453 [A/G] NM_018284 GBP3 EXON Missense_L581P newrs151210291 1 89473490 [A/G] NM_018284 GBP3 EXON Nonsense_Q569X variant.4670 1 89473505 [A/G] NM_018284 GBP3 EXON Nonsense_Q564X exm73084 1 89473522 [A/G] NM_018284 GBP3 EXON Missense_V558A exm73085 1 89473532 [G/C] NM_018284 GBP3 EXON Missense_Q555E indel.4671 1 89474621 [I/D] NM_018284 GBP3 var_1_89474674 1 89474674 [A/G] NM_018284 GBP3 EXON Nonsense_Q539X exm73092 1 89474818 [A/G] NM_018284 GBP3 EXON Missense_C491R exm73093 1 89475080 [A/G] NM_018284 GBP3 EXON Missense_I487T newrs12087251 1 89476589 [A/G] NM_018284 GBP3 EXON Nonsense_Q454X indel.4676 1 89476647 [I/D] NM_018284 GBP3 EXON 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 rs4656078 1 89479074 [T/C] NM_018284 GBP3 EXON Missense_R221Q exm73145 1 89479102 [A/G] NM_018284 GBP3 EXON Nonsense_Q212X newrs3795543 1 89479758 [T/C] NM_018284 GBP3 Silent exm73149 1 89479798 [T/C] NM_018284 GBP3 EXON Missense_E198G variant.4683 1 89480969 [T/C] NM_018284 GBP3 Silent exm73168 1 89481013 [G/C] NM_018284 GBP3 EXON Missense_T92S rs7555039 1 89486037 [T/C] NM_018284 GBP3 Silent 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 rs12142922 1 89489915 [A/G] rs6683705 1 89490707 [A/G] rs12097848 1 89492154 [T/C] rs1074541 1 89509499 [A/G] rs6675866 1 89517810 [T/C] 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 newrs150057659 1 89520397 [A/C] NM_002053 GBP1 EXON Nonsense_E545X exm73198 1 89520405 [A/G] NM_002053 GBP1 EXON Missense_L542S indel.4686 1 89521705 [D/I] NM_002053 GBP1 EXON rs2390679 1 89522020 [A/C] NM_002053 GBP1 Silent rs4376712 1 89522512 [T/C] NM_002053 GBP1 Silent exm73234 1 89522536 [C/G] NM_002053 GBP1 Silent 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 var_1_89523675 1 89523675 [A/G] NM_002053 GBP1 EXON Missense_R292C 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 indel.4691 1 89524641 [I/D] NM_002053 GBP1 EXON exm73271 1 89524657 [G/C] NM_002053 GBP1 EXON Missense_E166D newrs192785479 1 89524698 [A/G] NM_002053 GBP1 EXON Nonsense_R153X exm73300 1 89525989 [A/G] NM_002053 GBP1 EXON Missense_T70M exm73316 1 89528914 [A/C] NM_002053 GBP1 EXON Missense_A2S rs17130722 1 89530860 [A/G] NM_002053 GBP1 EXON Silent rs10922563 1 89546803 [A/G] rs12740160 1 89551004 [A/G] rs2031834 1 89555843 [A/G] 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 rs2026043 1 89575677 [T/C] NM_004120 GBP2 Silent variant.4694 1 89579694 [T/C] NM_004120 GBP2 Silent 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 variant.4697 1 89582756 [A/G] NM_004120 GBP2 EXON Nonsense_Q263X exm73368 1 89582810 [C/G] NM_004120 GBP2 EXON Missense_L245V newrs189899416 1 89582870 [A/G] NM_004120 GBP2 EXON Nonsense_R225X exm73375 1 89582914 [A/G] NM_004120 GBP2 EXON Missense_T210I variant.4699 1 89583255 [A/G] NM_004120 GBP2 Silent indel.4700 1 89583306 [D/I] NM_004120 GBP2 EXON exm73381 1 89583433 [T/C] NM_004120 GBP2 EXON Missense_R151Q rs1329120 1 89584565 [A/G] NM_004120 GBP2 Silent exm73385 1 89585878 [T/C] NM_004120 GBP2 EXON Missense_A138T exm73401 1 89587610 [T/C] NM_004120 GBP2 EXON Missense_I14V rs17130736 1 89592133 [T/C] 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 variant.4703 1 89598020 [A/G] NM_207398 GBP7 EXON Nonsense_R577X exm73417 1 89598040 [A/G] NM_207398 GBP7 EXON Missense_S570L exm73419 1 89598073 [A/G] NM_207398 GBP7 EXON Missense_L559P variant.4704 1 89598940 [T/C] NM_207398 GBP7 Silent indel.4705 1 89598984 [I/D] NM_207398 GBP7 EXON exm73430 1 89599084 [C/G] NM_207398 GBP7 EXON Missense_Q507E rs10158415 1 89602884 [T/G] NM_207398 GBP7 Silent 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 newrs150032762 1 89616216 [T/C] NM_207398 GBP7 EXON Nonsense_W223X variant.4712 1 89616259 [T/C] NM_207398 GBP7 Silent variant.4713 1 89616260 [T/C] NM_207398 GBP7 Silent exm73471 1 89618035 [A/G] NM_207398 GBP7 EXON Nonsense_R181X exm73489 1 89630543 [T/C] NM_207398 GBP7 Silent rs2893089 1 89630721 [T/G] NM_207398 GBP7 Silent rs616098 1 89632854 [A/G] 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 indel.4718 1 89637553 [I/D] NM_207398 GBP7 EXON exm73503 1 89637603 [A/G] NM_207398 GBP7 EXON Missense_H6Y exm73506 1 89650945 [A/G] NM_052941 GBP4 EXON Missense_R639C indel.4720 1 89650967 [I/D] NM_052941 GBP4 EXON indel.4721 1 89650970 [D/I] NM_052941 GBP4 EXON variant.4722 1 89651046 [A/C] NM_052941 GBP4 EXON Nonsense_L605X exm73514 1 89652071 [T/C] NM_052941 GBP4 EXON Missense_E551G 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 indel.4725 1 89654348 [D/I] NM_052941 GBP4 EXON exm73538 1 89654395 [T/C] NM_052941 GBP4 EXON Missense_R427Q indel.4726 1 89654400 [I/D] NM_052941 GBP4 EXON indel.4727 1 89654460 [I/D] NM_052941 GBP4 EXON exm73541 1 89655720 [T/C] NM_052941 GBP4 Silent variant.4729 1 89655721 [T/C] NM_052941 GBP4 EXON Synonymous_V399V indel.4730 1 89655723 [I/D] NM_052941 GBP4 EXON exm73567 1 89657124 [A/G] NM_052941 GBP4 EXON Missense_R246W exm73568 1 89657129 [T/C] NM_052941 GBP4 EXON Missense_R244Q variant.4732 1 89657191 [T/C] NM_052941 GBP4 Silent exm2233944 1 89659086 [T/C] NM_052941 GBP4 EXON Missense_K125E variant.4734 1 89660980 [T/C] NM_052941 GBP4 EXON Synonymous_K121K exm73585 1 89660988 [A/C] NM_052941 GBP4 EXON Missense_V119L exm2233945 1 89661089 [A/G] NM_052941 GBP4 EXON Missense_T85M rs650448 1 89661228 [T/G] NM_052941 GBP4 Silent 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 rs545729 1 89672622 [A/G] rs628709 1 89673196 [A/C] rs611596 1 89721862 [T/C] exm73602 1 89726398 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_V584I,Missense_V584I variant.4736 1 89726432 [A/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Synonymous_H572H,Synonymous_H572H exm2253588 1 89726438 [A/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Synonymous_L570L,Synonymous_L570L exm73612 1 89728008 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_M514I,Missense_M514I variant.4738 1 89728365 [T/C] NM_001134486,NM_052942 GBP5,GBP5 Silent,Silent indel.4739 1 89728373 [I/D] NM_001134486,NM_052942 GBP5,GBP5 EXON exm73620 1 89728437 [A/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_S465F,Missense_S465F exm73627 1 89729439 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_E448K,Missense_E448K exm73630 1 89729478 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_I435V,Missense_I435V exm73632 1 89729504 [T/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_S426Y,Missense_S426Y exm73634 1 89729564 [A/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_S406L,Missense_S406L exm2233947 1 89730384 [T/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_F378L,Missense_F378L exm73651 1 89730555 [C/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_E321D,Missense_E321D exm73652 1 89730556 [A/T] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_E321V,Missense_E321V exm73653 1 89730557 [C/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_E321Q,Missense_E321Q rs9628688 1 89730723 [T/C] NM_001134486,NM_052942 GBP5,GBP5 Silent,Silent newrs140405391 1 89732028 [T/C] NM_001134486,NM_052942 GBP5,GBP5 Silent,Silent exm73667 1 89732071 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_M276V,Missense_M276V exm73672 1 89732110 [A/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Nonsense_Q263X,Nonsense_Q263X exm73673 1 89732194 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_I235V,Missense_I235V indel.4748 1 89732213 [I/D] NM_001134486,NM_052942 GBP5,GBP5 EXON indel.4749 1 89732677 [D/I] NM_001134486,NM_052942 GBP5,GBP5 EXON exm73683 1 89732754 [T/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_S171R,Missense_S171R exm73689 1 89733172 [A/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_A119V,Missense_A119V newrs147816214 1 89734412 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Synonymous_K106K,Synonymous_K106K exm73692 1 89734412 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Synonymous_K106K,Synonymous_K106K exm73695 1 89734459 [T/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_H91N,Missense_H91N exm1918617 1 89734522 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_T70A,Missense_T70A exm73698 1 89734539 [A/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_G64V,Missense_G64V variant.4753 1 89735044 [T/C] NM_001134486,NM_052942 GBP5,GBP5 Silent,Silent exm73699 1 89735081 [T/A] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_Y53F,Missense_Y53F exm73700 1 89735085 [A/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_S52P,Missense_S52P exm73703 1 89735096 [T/C] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_R48H,Missense_R48H exm73706 1 89735135 [A/G] NM_001134486,NM_052942 GBP5,GBP5 EXON Missense_T35M,Missense_T35M rs3806338 1 89735314 [A/G] NM_001134486,NM_052942 GBP5,GBP5 Silent,Silent rs687059 1 89746017 [A/G] rs10922605 1 89759219 [A/G] rs10801723 1 89776233 [A/G] rs10801724 1 89779051 [T/G] rs1117177 1 89787286 [A/G] rs7530906 1 89789301 [T/C] exm2264870 1 89803882 [A/G] rs6672564 1 89817783 [T/C] rs6428523 1 89822845 [A/C] 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 indel.4756 1 89846084 [D/I] NM_198460 GBP6 EXON variant.4757 1 89846103 [T/C] NM_198460 GBP6 EXON Nonsense_Q262X 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 rs4658146 1 89847444 [A/G] NM_198460 GBP6 EXON Missense_M355V 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 rs928655 1 89849574 [A/G] NM_198460 GBP6 Silent exm73787 1 89849657 [T/C] NM_198460 GBP6 EXON Missense_R492W indel.4759 1 89849685 [I/D] NM_198460 GBP6 EXON 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 variant.4760 1 89850997 [A/C] NM_198460 GBP6 EXON Nonsense_S624X rs17130799 1 89858643 [T/C] rs11577456 1 89899019 [A/G] rs10922643 1 89899285 [A/G] rs17130817 1 89933828 [T/C] rs6692501 1 89935101 [A/G] rs10493826 1 89970163 [T/C] rs359937 1 89982719 [T/C] rs359935 1 89983184 [A/G] rs716833 1 89995069 [A/G] NM_001134476 LRRC8B Silent rs9428043 1 90005132 [T/C] NM_001134476 LRRC8B Silent rs922107 1 90022796 [A/G] NM_001134476 LRRC8B Silent rs922106 1 90025519 [A/C] NM_001134476,NM_015350 LRRC8B,LRRC8B Silent,Silent 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 variant.4761 1 90048984 [T/C] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON Synonymous_L259L,Synonymous_L259L 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 indel.4764 1 90058492 [I/D] NM_001134476,NM_015350 LRRC8B,LRRC8B EXON rs6685584 1 90067602 [T/C] rs1215547 1 90072888 [T/C] rs1215512 1 90087511 [A/C] rs10754283 1 90112431 [T/G] NM_032270 LRRC8C Silent rs1320563 1 90121032 [A/G] NM_032270 LRRC8C Silent rs12406924 1 90127075 [T/G] NM_032270 LRRC8C Silent rs10922690 1 90132069 [A/G] NM_032270 LRRC8C Silent rs4658309 1 90143228 [A/G] NM_032270 LRRC8C Silent rs17130851 1 90145252 [A/G] NM_032270 LRRC8C Silent indel.4766 1 90152103 [D/I] NM_032270 LRRC8C EXON 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 newrs141148352 1 90180215 [T/C] NM_032270 LRRC8C EXON Nonsense_R696X 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 rs17130862 1 90186166 [T/C] rs2224652 1 90196552 [T/C] rs12727736 1 90210821 [A/G] rs473412 1 90227649 [A/G] rs10922710 1 90227682 [T/C] rs4658318 1 90232180 [T/C] rs7535521 1 90256113 [A/G] rs6684610 1 90265414 [T/C] rs1009964 1 90265971 [T/G] rs6659997 1 90272372 [T/C] exm2268721 1 90278842 [T/C] rs4658335 1 90304024 [A/G] NM_001134479,NM_018103 LRRC8D,LRRC8D Silent,Silent rs7542239 1 90312742 [A/G] NM_001134479,NM_018103 LRRC8D,LRRC8D Silent,Silent rs12095496 1 90336244 [T/C] NM_001134479,NM_018103 LRRC8D,LRRC8D Silent,Silent rs2816853 1 90339193 [T/C] NM_001134479,NM_018103 LRRC8D,LRRC8D Silent,Silent rs2816858 1 90353008 [T/C] NM_001134479,NM_018103 LRRC8D,LRRC8D Silent,Silent rs2816849 1 90373067 [A/G] NM_001134479,NM_018103 LRRC8D,LRRC8D Silent,Silent 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 indel.4768 1 90399558 [I/D] NM_001134479,NM_018103 LRRC8D,LRRC8D EXON 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 rs2704004 1 90451209 [A/G] rs2816866 1 90455415 [T/C] 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 newrs149719190 1 90478723 [T/C] NM_182976 ZNF326 EXON Nonsense_R285X 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 rs954145 1 90498540 [T/G] rs12079836 1 90520618 [A/G] rs12134621 1 90532229 [T/G] rs7542860 1 90532766 [T/C] rs6663620 1 90535344 [T/G] exm2260822 1 90537317 [A/G] rs2813746 1 90539764 [A/C] rs17130964 1 90540501 [T/C] rs2703999 1 90540565 [A/G] rs2772337 1 90559504 [T/C] rs10922761 1 90568071 [A/C] rs1329644 1 90575147 [T/C] rs7552852 1 90597198 [T/C] rs12038587 1 90598021 [A/G] rs6428576 1 90607718 [A/G] rs12145344 1 90612804 [T/C] rs11800888 1 90620142 [T/G] rs10157978 1 90624605 [A/G] rs3922967 1 90626396 [T/C] rs4370755 1 90631849 [T/C] rs4388690 1 90640945 [A/C] rs6428580 1 90642254 [A/G] rs10922802 1 90652231 [A/G] rs4626871 1 90659565 [T/C] rs17130997 1 90664986 [A/G] rs6687644 1 90685501 [A/G] rs12085161 1 90704176 [T/C] rs4507991 1 90739930 [T/C] exm2268722 1 90741571 [T/G] rs6689390 1 90759618 [A/G] rs7517905 1 90770566 [T/C] rs4446947 1 90781761 [A/G] rs7550206 1 90783440 [A/G] rs7532538 1 90785933 [T/C] rs4453022 1 90790141 [T/C] rs7549113 1 90791906 [A/G] rs7518543 1 90801258 [T/C] rs6674478 1 90805127 [A/G] rs12141568 1 90816109 [A/C] rs10801803 1 90818872 [A/G] rs10801804 1 90819317 [T/C] rs7546709 1 90824652 [T/C] rs12127465 1 90835677 [T/C] rs9428050 1 90836739 [A/C] rs17131031 1 90854258 [A/G] rs10801810 1 90860965 [A/C] rs2202787 1 90872387 [T/G] rs17131041 1 90873828 [T/C] exm-rs2136093 1 90875888 [T/C] rs699546 1 90901199 [T/G] rs1337576 1 90916072 [A/G] rs506368 1 90920022 [A/G] rs578509 1 90925451 [A/G] rs1337575 1 90939247 [T/C] rs699533 1 90942911 [A/G] exm-rs2390582 1 90943907 [A/G] rs699531 1 90945085 [A/G] rs1591670 1 90949962 [A/C] rs699526 1 90952184 [A/G] rs12726749 1 90953104 [T/C] rs693260 1 90965565 [T/C] rs527402 1 90973861 [A/G] rs699521 1 90980866 [T/C] exm2260824 1 90992380 [T/C] rs17131080 1 91009612 [T/G] rs1336874 1 91014198 [T/C] rs12078288 1 91045387 [T/C] rs12124829 1 91049339 [T/C] rs10922882 1 91053707 [T/C] rs6690040 1 91061122 [A/G] rs10801819 1 91072248 [T/G] rs1943448 1 91077772 [A/G] rs4233429 1 91099903 [T/G] rs12072986 1 91111887 [T/C] rs2970544 1 91113178 [T/C] rs4658083 1 91122149 [A/G] rs12354259 1 91136463 [A/G] rs10922899 1 91144055 [T/C] rs10493843 1 91148357 [A/G] rs6679774 1 91149594 [A/C] rs6428597 1 91154551 [A/G] rs10493842 1 91158104 [T/C] rs7519925 1 91165138 [T/C] exm74135 1 91178036 [C/G] NM_020063 BARHL2 EXON Missense_A333P 1KG_1_91180300 1 91180300 [D/I] NM_020063 BARHL2 EXON 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 indel.4771 1 91182665 [I/D] NM_020063 BARHL2 EXON rs10518493 1 91188196 [T/C] rs12089815 1 91189933 [A/G] rs1342780 1 91198676 [A/C] rs10922910 1 91199862 [T/G] rs10801825 1 91206170 [A/C] rs6656775 1 91219359 [A/G] rs3843305 1 91243376 [A/G] rs698274 1 91244177 [A/G] rs3904678 1 91251325 [A/G] rs10922924 1 91252863 [A/G] rs1725375 1 91255484 [A/G] rs1725390 1 91258572 [A/C] rs1725384 1 91260076 [T/C] rs1997155 1 91265543 [T/G] rs1335718 1 91279915 [T/C] exm2268723 1 91279915 [T/C] rs1358156 1 91293921 [T/C] rs1188931 1 91308396 [A/C] rs12046172 1 91325323 [T/G] kgp831653 1 91328827 [A/C] kgp5731474 1 91330027 [T/C] rs12726261 1 91380440 [T/C] exm74179 1 91382455 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_R1295Q,Missense_R73Q,Missense_R73Q exm74182 1 91382477 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_I1288V,Missense_I66V,Missense_I66V exm74194 1 91403290 [A/G] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_L1147P,Silent,Silent exm74203 1 91403431 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_R1100H,Silent,Silent exm74204 1 91403440 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_N1097S,Silent,Silent exm2233966 1 91403464 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_Y1089C,Silent,Silent exm74208 1 91403530 [A/G] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_T1067M,Silent,Silent exm74217 1 91404256 [A/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_E885D,Silent,Silent exm74218 1 91404303 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_T870A,Silent,Silent exm74219 1 91404308 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_D868G,Silent,Silent exm74226 1 91404530 [A/G] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_A794V,Silent,Silent exm74229 1 91404576 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_S779G,Silent,Silent exm74230 1 91404617 [T/G] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_E765A,Silent,Silent exm74231 1 91404671 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_Y747C,Silent,Silent exm74232 1 91404692 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_Y740C,Silent,Silent exm74234 1 91404710 [T/G] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_A734E,Silent,Silent exm74238 1 91404768 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_V715I,Silent,Silent exm74241 1 91404792 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_K707E,Silent,Silent exm74244 1 91404863 [C/G] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_R683T,Silent,Silent exm74255 1 91405215 [T/A] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_T566S,Silent,Silent exm74256 1 91405217 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_K565R,Silent,Silent exm74257 1 91405245 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_M556V,Silent,Silent exm74279 1 91405961 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_K317R,Silent,Silent exm74281 1 91405998 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_E305K,Silent,Silent exm74283 1 91406006 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_R302H,Silent,Silent exm74292 1 91406186 [A/G] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_T242M,Silent,Silent exm74294 1 91406247 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_V222I,Silent,Silent exm74300 1 91406444 [T/A] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_K156M,Silent,Silent exm2233968 1 91406643 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_G90S,Silent,Silent exm74309 1 91406775 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_N46D,Silent,Silent exm74313 1 91406859 [T/C] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 EXON Missense_V18M,Silent,Silent rs358689 1 91444533 [A/G] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 Silent,Silent,Silent rs358684 1 91456926 [A/G] NM_201269,NM_016620,NM_032186 ZNF644,ZNF644,ZNF644 Silent,Silent,Silent rs355644 1 91504195 [T/C] rs164992 1 91517927 [T/C] rs469772 1 91530305 [T/C] rs164989 1 91536485 [T/C] rs164911 1 91550812 [T/G] rs12723509 1 91550896 [A/G] rs11582243 1 91556690 [T/C] rs164983 1 91566457 [T/C] rs164898 1 91569689 [A/G] exm-rs164898 1 91569689 [A/G] rs165291 1 91581942 [T/C] rs240504 1 91586000 [T/C] rs346994 1 91602551 [A/G] rs347004 1 91605491 [A/G] rs347027 1 91618766 [A/G] rs347028 1 91618793 [T/C] rs613217 1 91620228 [A/G] rs969618 1 91621607 [A/G] rs983040 1 91623097 [T/C] rs613176 1 91627098 [T/C] rs404716 1 91628655 [A/G] rs445014 1 91632172 [T/C] rs620760 1 91633434 [T/C] rs1454328 1 91647150 [A/G] rs6696698 1 91658368 [A/G] rs10801844 1 91659939 [T/C] rs2089432 1 91661385 [T/C] rs615020 1 91716979 [T/C] rs681589 1 91730806 [T/C] NM_001017975 HFM1 Silent variant.4776 1 91731572 [A/G] NM_001017975 HFM1 Silent 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 rs10801851 1 91747006 [T/C] NM_001017975 HFM1 Silent rs1158437 1 91774858 [T/G] NM_001017975 HFM1 Silent exm74380 1 91778984 [T/G] NM_001017975 HFM1 EXON Missense_T1105P indel.4779 1 91781720 [D/I] NM_001017975 HFM1 EXON exm74414 1 91782031 [T/C] NM_001017975 HFM1 EXON Missense_I939V rs281997 1 91784088 [A/G] NM_001017975 HFM1 Silent exm74419 1 91784916 [T/C] NM_001017975 HFM1 EXON Missense_I872V rs282000 1 91785583 [T/C] NM_001017975 HFM1 Silent 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 rs281973 1 91794248 [A/G] NM_001017975 HFM1 Silent rs3893101 1 91794494 [A/G] NM_001017975 HFM1 Silent exm74427 1 91809014 [T/C] NM_001017975 HFM1 EXON Missense_D770N exm74432 1 91816343 [A/G] NM_001017975 HFM1 EXON Nonsense_R720X rs12129878 1 91831097 [T/C] NM_001017975 HFM1 Silent 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 variant.4790 1 91844620 [T/C] NM_001017975 HFM1 EXON Synonymous_P386P exm74474 1 91845754 [T/C] NM_001017975 HFM1 EXON Missense_T305A exm1927669 1 91845778 [T/A] NM_001017975 HFM1 EXON Missense_R297W rs17131418 1 91849219 [T/C] NM_001017975 HFM1 Silent 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 variant.4796 1 91859768 [A/G] NM_001017975 HFM1 EXON Nonsense_Q126X 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 rs11166001 1 91872374 [T/C] rs574364 1 91885970 [T/C] exm2268912 1 91885970 [T/C] rs11166498 1 91895432 [A/G] rs519244 1 91903413 [T/C] exm2253714 1 91916880 [A/G] rs3851270 1 91917448 [T/C] rs12060889 1 91919058 [T/G] rs7540260 1 91919533 [A/G] rs12058802 1 91923254 [A/G] rs10874743 1 91952120 [T/C] rs10518494 1 91959859 [T/C] 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 rs483532 1 91980447 [A/G] NM_003503,NM_001134419,NM_001134420 CDC7,CDC7,CDC7 EXON Synonymous_T330T,Synonymous_T330T,Synonymous_T330T 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 rs6688261 1 91987034 [T/C] NM_003503,NM_001134419,NM_001134420 CDC7,CDC7,CDC7 Silent,Silent,Silent rs10493850 1 91988009 [A/G] NM_003503,NM_001134419,NM_001134420 CDC7,CDC7,CDC7 Silent,Silent,Silent indel.4803 1 91989749 [D/I] NM_003503,NM_001134419,NM_001134420 CDC7,CDC7,CDC7 EXON exm74573 1 91989979 [A/G] NM_003503,NM_001134419,NM_001134420 CDC7,CDC7,CDC7 EXON Missense_D571G,Missense_D571G,Missense_D571G rs745731 1 92011467 [T/G] rs1949009 1 92016653 [T/C] rs6681073 1 92022597 [T/G] rs7536573 1 92030967 [A/C] rs11164953 1 92031009 [T/C] rs11164955 1 92032179 [A/G] rs925191 1 92037984 [A/G] rs10874794 1 92045585 [T/C] rs4658234 1 92048779 [T/G] rs12059556 1 92055995 [T/C] rs4658241 1 92066310 [T/C] rs4658244 1 92069188 [A/G] rs1041159 1 92076523 [T/C] exm-rs1192415 1 92077097 [A/G] rs1192419 1 92080059 [A/G] rs4650270 1 92082656 [T/G] rs17569956 1 92089259 [T/G] rs11165102 1 92095078 [T/G] rs10874851 1 92106637 [A/C] rs2182424 1 92107736 [T/C] rs2493202 1 92108899 [T/C] rs2182425 1 92112890 [A/C] rs17131515 1 92116019 [A/C] rs4459159 1 92122248 [T/C] exm74575 1 92149303 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_T850M,Missense_T849M,Missense_T849M,Silent rs2810891 1 92154088 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs2810887 1 92158571 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm74586 1 92161298 [A/T] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_I790F,Missense_I789F,Missense_I789F,Silent exm1929694 1 92161307 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_V787M,Missense_V786M,Missense_V786M,Silent rs12141338 1 92161991 [T/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs6693438 1 92163174 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm74594 1 92163646 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_P777S,Missense_P776S,Missense_P776S,Silent exm74597 1 92163682 [G/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_G765R,Missense_G764R,Missense_G764R,Silent rs3767576 1 92166931 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs6660484 1 92172608 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs284878 1 92174260 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Synonymous_T749T,Synonymous_T748T,Synonymous_T748T,Silent rs1805113 1 92177938 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Synonymous_F676F,Synonymous_F675F,Synonymous_F675F,Silent rs2029354 1 92181670 [A/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm74624 1 92182222 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_P537L,Missense_P536L,Missense_P536L,Silent exm74625 1 92182233 [A/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_S533R,Missense_S532R,Missense_S532R,Silent exm74626 1 92184869 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Synonymous_S522S,Synonymous_S521S,Synonymous_S521S,Silent exm1929767 1 92184927 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_N503S,Missense_N502S,Missense_N502S,Silent exm74629 1 92184966 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_K490R,Missense_K489R,Missense_K489R,Silent newrs188034157 1 92185487 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_E459G,Missense_E458G,Missense_E458G,Silent exm74650 1 92187652 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_M312T,Missense_M312T,Missense_M312T,Silent exm74651 1 92187701 [A/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_A296S,Missense_A296S,Missense_A296S,Silent rs12751148 1 92190072 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm74662 1 92195428 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_S224F,Missense_S224F,Missense_S224F,Silent rs7517044 1 92198162 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm2233977 1 92200389 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_V171A,Missense_V171A,Missense_V171A,Silent exm74670 1 92200413 [A/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_W163L,Missense_W163L,Missense_W163L,Silent rs12076549 1 92201699 [A/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs11579207 1 92203190 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs17513917 1 92205197 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm-rs17131547 1 92211020 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs10493860 1 92212703 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs284169 1 92213442 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs17131552 1 92224815 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs284191 1 92236048 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm2264872 1 92241776 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs12090296 1 92242568 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs6683840 1 92249817 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs1411276 1 92257971 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs11799400 1 92258103 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs4658270 1 92258782 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm74687 1 92263005 [C/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_E29Q,Missense_E29Q,Missense_E29Q,Silent rs284149 1 92276535 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs10874981 1 92285875 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs901917 1 92292407 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs2799523 1 92316682 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent exm74690 1 92327034 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_T19A,Missense_T19A,Missense_T19A,Silent exm74691 1 92327045 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_S15F,Missense_S15F,Missense_S15F,Silent exm74692 1 92327048 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 EXON Missense_S14N,Missense_S14N,Missense_S14N,Silent rs11165679 1 92329059 [A/G] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs10493856 1 92334749 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs2634018 1 92334845 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs10875030 1 92339976 [T/C] NM_003243,NM_001195684,NM_001195683,NR_036634 TGFBR3,TGFBR3,TGFBR3,TGFBR3 Silent,Silent,Silent,Silent rs6680614 1 92358371 [T/G] NM_001195684 TGFBR3 Silent rs17576372 1 92366174 [T/C] NM_001195684 TGFBR3 Silent rs2770186 1 92378843 [T/C] rs9943134 1 92393752 [T/G] rs6666624 1 92416821 [T/C] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT Silent,Silent,Silent,Silent,Silent,Silent rs9887935 1 92425621 [T/G] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT Silent,Silent,Silent,Silent,Silent,Silent,Silent exm74704 1 92428495 [A/C] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_Q62K,Missense_Q62K,Missense_Q62K,Missense_Q62K,Missense_Q62K,Silent,Missense_Q62K exm74710 1 92430266 [T/C] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_S92L,Silent,Silent,Missense_S92L,Missense_S92L,Missense_S19L,Missense_S92L exm74714 1 92441876 [A/G] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_A171T,Missense_A121T,Missense_A121T,Missense_A167T,Missense_A167T,Missense_A94T,Missense_A167T exm74716 1 92441933 [A/G] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_I190V,Missense_I140V,Missense_I140V,Missense_I186V,Missense_I186V,Missense_I113V,Missense_I186V exm74725 1 92442695 [A/C] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_K242N,Missense_K192N,Missense_K192N,Missense_K238N,Missense_K238N,Missense_K165N,Missense_K238N exm74731 1 92442802 [A/G] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_R278K,Missense_R228K,Missense_R228K,Missense_R274K,Missense_R274K,Missense_R201K,Missense_R274K exm74736 1 92442902 [T/A] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_H311Q,Missense_H261Q,Missense_H261Q,Missense_H307Q,Missense_H307Q,Missense_H234Q,Missense_H307Q exm74740 1 92443803 [A/G] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_K354E,Missense_K304E,Missense_K304E,Missense_K350E,Missense_K350E,Missense_K277E,Missense_K350E exm74741 1 92443824 [A/G] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_E361K,Missense_E311K,Missense_E311K,Missense_E357K,Missense_E357K,Missense_E284K,Missense_E357K exm74745 1 92445179 [A/G] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_M388I,Missense_M338I,Missense_M338I,Missense_M384I,Missense_M384I,Missense_M311I,Missense_M384I exm74748 1 92445240 [A/G] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_A409T,Missense_A359T,Missense_A359T,Missense_A405T,Missense_A405T,Missense_A332T,Missense_A405T indel.4814 1 92445245 [I/D] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON exm74749 1 92445257 [C/G] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_N414K,Missense_N364K,Missense_N364K,Missense_N410K,Missense_N410K,Missense_N337K,Missense_N410K indel.4815 1 92446268 [D/I] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON exm74761 1 92446333 [T/C] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_M478T,Missense_M428T,Missense_M428T,Missense_M474T,Missense_M474T,Missense_M401T,Missense_M474T variant.4816 1 92446445 [A/G] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.4817 1 92446602 [I/D] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON exm74773 1 92446887 [T/C] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_R609W,Missense_R559W,Missense_R559W,Missense_R605W,Missense_R605W,Missense_R532W,Missense_R605W exm74774 1 92446888 [A/G] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_R609Q,Missense_R559Q,Missense_R559Q,Missense_R605Q,Missense_R605Q,Missense_R532Q,Missense_R605Q exm74779 1 92447217 [A/G] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_R640Q,Missense_R590Q,Missense_R590Q,Missense_R636Q,Missense_R636Q,Missense_R563Q,Missense_R636Q rs10735794 1 92453336 [A/G] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1930629 1 92456792 [A/G] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_E689G,Missense_E639G,Missense_E639G,Missense_E685G,Missense_E685G,Missense_E612G,Missense_E685G exm74792 1 92457843 [T/C] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_P700L,Missense_P650L,Missense_P650L,Missense_P696L,Missense_P696L,Missense_P623L,Missense_P696L rs1410583 1 92462296 [A/G] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT Silent,Silent,Silent,Silent,Silent,Silent,Silent exm74809 1 92467626 [A/G] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_N774D,Missense_N724D,Missense_N724D,Missense_N770D,Missense_N770D,Missense_N697D,Missense_N770D exm74810 1 92467669 [T/C] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_T788M,Missense_T738M,Missense_T738M,Missense_T784M,Missense_T784M,Missense_T711M,Missense_T784M exm74818 1 92469990 [T/C] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_A807V,Missense_A757V,Missense_A757V,Missense_A803V,Missense_A803V,Missense_A730V,Missense_A803V exm74831 1 92470809 [T/C] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT EXON Missense_R914C,Missense_R864C,Missense_R864C,Missense_R910C,Missense_R910C,Missense_R837C,Missense_R910C variant.4820 1 92470857 [A/G] NM_001242806,NM_001242807,NM_001242808,NM_207189,NM_001242805,NM_001242810,NM_001726 BRDT,BRDT,BRDT,BRDT,BRDT,BRDT,BRDT Silent,Silent,Silent,Silent,Silent,Silent,Silent exm74839 1 92495782 [A/G] NM_173567 EPHX4 EXON Missense_Q49R exm74846 1 92498120 [T/C] NM_173567 EPHX4 EXON Missense_L97P rs1014415 1 92502060 [A/G] NM_173567 EPHX4 Silent rs17131593 1 92503338 [T/C] NM_173567 EPHX4 Silent exm74851 1 92508490 [A/C] NM_173567 EPHX4 EXON Missense_K143T exm74853 1 92508517 [A/G] NM_173567 EPHX4 EXON Missense_K152R rs1073001 1 92512379 [A/G] NM_173567 EPHX4 Silent variant.4825 1 92515885 [T/C] NM_173567 EPHX4 EXON Nonsense_R206X variant.4827 1 92518216 [T/G] NM_173567 EPHX4 Silent 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 newrs151101910 1 92554449 [T/G] NM_183242 BTBD8 EXON Nonsense_L115X rs11166141 1 92561392 [A/G] NM_183242 BTBD8 Silent exm74880 1 92568060 [A/C] NM_183242 BTBD8 EXON Missense_K126N exm74881 1 92568089 [A/G] NM_183242 BTBD8 EXON Missense_K136R rs1226187 1 92579206 [A/G] NM_183242 BTBD8 Silent rs2046297 1 92583738 [A/G] NM_183242 BTBD8 Silent var_1_92595338 1 92595338 [A/G] NM_183242 BTBD8 Silent exm74890 1 92604915 [A/G] NM_183242 BTBD8 EXON Missense_H254R exm74891 1 92604946 [A/G] NM_183242 BTBD8 EXON Missense_I264M rs563113 1 92608852 [T/G] NM_183242 BTBD8 Silent indel.4830 1 92612755 [D/I] NM_183242 BTBD8 EXON indel.4831 1 92613315 [D/I] NM_183242 BTBD8 EXON 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 indel.4832 1 92697014 [D/I] NM_001012425 C1orf146 EXON rs6679259 1 92704761 [T/G] NM_001012425 C1orf146 Silent newrs112497048 1 92707814 [T/C] NM_001012425 C1orf146 EXON Nonsense_R38X exm74989 1 92709801 [A/T] NM_001012425 C1orf146 EXON Missense_K63M exm74992 1 92709824 [G/C] NM_001012425 C1orf146 EXON Missense_E71Q newrs150020703 1 92710414 [A/G] NM_001012425 C1orf146 EXON Synonymous_K136K 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 variant.4841 1 92729256 [A/G] NM_053274 GLMN EXON Nonsense_Q445X indel.4842 1 92729265 [I/D] NM_053274 GLMN EXON 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 indel.4845 1 92737098 [I/D] NM_053274 GLMN EXON exm1930749 1 92737184 [C/G] NM_053274 GLMN EXON Missense_P254R indel.4847 1 92754549 [I/D] NM_053274 GLMN EXON 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 rs10875349 1 92765102 [T/C] NM_024813 RPAP2 Silent exm75100 1 92767132 [G/C] NM_024813 RPAP2 EXON Missense_E73D indel.4852 1 92769597 [I/D] NM_024813 RPAP2 EXON rs11166543 1 92781579 [T/C] NM_024813 RPAP2 Silent rs7529971 1 92785745 [T/C] NM_024813 RPAP2 Silent indel.4855 1 92789274 [I/D] NM_024813 RPAP2 EXON 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 indel.4856 1 92789907 [D/I] NM_024813 RPAP2 EXON exm75143 1 92799008 [A/G] NM_024813 RPAP2 EXON Missense_V506I indel.4858 1 92799015 [I/D] NM_024813 RPAP2 EXON indel.4859 1 92799022 [D/I] NM_024813 RPAP2 EXON rs7535181 1 92843178 [A/G] NM_024813 RPAP2 Silent 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 rs6692060 1 92846681 [A/G] NM_024813 RPAP2 Silent rs7524120 1 92865160 [A/G] rs3929737 1 92867911 [A/G] kgp11962852 1 92869733 [T/C] rs10399724 1 92925390 [A/G] exm75161 1 92941657 [A/G] NM_001127216,NM_005263,NM_001127215 GFI1,GFI1,GFI1 EXON Missense_L400F,Missense_L400F,Missense_L400F exm75178 1 92946226 [C/G] NM_001127216,NM_005263,NM_001127215 GFI1,GFI1,GFI1 EXON Missense_E240Q,Missense_E240Q,Missense_E240Q exm75204 1 92948938 [T/C] NM_001127216,NM_005263,NM_001127215 GFI1,GFI1,GFI1 EXON Missense_S36N,Missense_S36N,Missense_S36N rs7540564 1 92957826 [A/C] rs1886684 1 92975938 [T/C] NM_005665 EVI5 EXON Silent 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 rs11804321 1 93009313 [T/C] NM_005665 EVI5 Silent exm-rs7515577 1 93009438 [A/C] NM_005665 EVI5 Silent variant.4863 1 93029234 [A/C] NM_005665 EVI5 EXON Nonsense_E695X 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 rs10159031 1 93079490 [A/C] NM_005665 EVI5 Silent 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 newrs143887144 1 93101827 [A/G] NM_005665 EVI5 EXON Nonsense_R471X exm1931397 1 93142719 [A/G] NM_005665 EVI5 EXON Missense_I429T exm75267 1 93142746 [A/G] NM_005665 EVI5 EXON Missense_T420M 1KG_1_93159881 1 93159881 [D/I] NM_005665 EVI5 EXON exm75269 1 93159927 [A/G] NM_005665 EVI5 EXON Missense_R354C var_1_93159946 1 93159946 [T/C] NM_005665 EVI5 Silent 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 variant.4874 1 93170170 [T/C] NM_005665 EVI5 EXON Nonsense_W138X rs11800409 1 93181013 [T/G] NM_005665 EVI5 Silent rs2391198 1 93190954 [T/C] NM_005665 EVI5 Silent exm2273662 1 93201961 [T/C] NM_005665 EVI5 EXON Missense_Q92R rs1337107 1 93218776 [A/G] NM_005665 EVI5 Silent kgp10173543 1 93222418 [T/C] NM_005665 EVI5 Silent rs11164808 1 93235500 [A/C] NM_005665 EVI5 Silent rs4847221 1 93269824 [T/C] rs10874742 1 93289668 [T/C] rs34244251 1 93297180 [A/G] exm-rs6604026 1 93303603 [T/C] NM_000969,NM_001252273 RPL5,FAM69A Silent,Silent exm75369 1 93309316 [T/C] NM_001252273,NM_001252269,NM_001006605,NM_001252270,NM_001252271 FAM69A,FAM69A,FAM69A,FAM69A,FAM69A EXON Silent,Missense_D259G,Missense_D304G,Missense_D245G,Missense_D279G exm75373 1 93312749 [T/A] NM_001252273,NM_001252269,NM_001006605,NM_001252270,NM_001252271 FAM69A,FAM69A,FAM69A,FAM69A,FAM69A EXON Missense_S155R,Missense_S110R,Missense_S155R,Silent,Missense_S130R rs17271666 1 93320593 [T/C] NM_001252273,NM_001252269,NM_001006605,NM_001252270,NM_001252271 FAM69A,FAM69A,FAM69A,FAM69A,FAM69A Silent,Silent,Silent,Silent,Silent exm-rs10874746 1 93323971 [T/C] NM_001252273,NM_001252269,NM_001006605,NM_001252270,NM_001252271 FAM69A,FAM69A,FAM69A,FAM69A,FAM69A Silent,Silent,Silent,Silent,Silent exm75380 1 93341897 [T/C] NM_001252273,NM_001252269,NM_001006605,NM_001252270,NM_001252271 FAM69A,FAM69A,FAM69A,FAM69A,FAM69A EXON Missense_T49A,Silent,Missense_T49A,Missense_T49A,Missense_T24A rs10782946 1 93352669 [A/G] NM_001252273,NM_001252269,NM_001006605,NM_001252270 FAM69A,FAM69A,FAM69A,FAM69A Silent,Silent,Silent,Silent rs6698233 1 93397300 [T/C] NM_001252273,NM_001252269,NM_001006605,NM_001252270 FAM69A,FAM69A,FAM69A,FAM69A Silent,Silent,Silent,Silent rs10493863 1 93399694 [T/C] NM_001252273,NM_001252269,NM_001006605,NM_001252270 FAM69A,FAM69A,FAM69A,FAM69A Silent,Silent,Silent,Silent exm-rs12745968 1 93401837 [A/G] NM_001252273,NM_001252269,NM_001006605,NM_001252270 FAM69A,FAM69A,FAM69A,FAM69A Silent,Silent,Silent,Silent rs6671268 1 93439821 [T/C] rs11164854 1 93443043 [T/C] rs11164855 1 93466960 [T/C] rs17381426 1 93473150 [T/C] rs492054 1 93473744 [A/C] rs2928183 1 93477292 [A/G] exm2264873 1 93477292 [A/G] rs680285 1 93489113 [A/C] rs6688632 1 93490650 [T/C] rs1678778 1 93502451 [A/G] rs563930 1 93515049 [T/C] rs2265927 1 93521050 [T/G] rs2249590 1 93523083 [T/G] rs549938 1 93530980 [A/G] rs546445 1 93544629 [T/C] rs2815424 1 93553223 [T/G] NM_001164391,NM_001164392,NM_001164393,NM_007358 MTF2,MTF2,MTF2,MTF2 Silent,Silent,Silent,Silent exm75395 1 93576132 [A/G] NM_001164391,NM_001164392,NM_001164393,NM_007358 MTF2,MTF2,MTF2,MTF2 EXON Silent,Missense_I79V,Silent,Missense_I79V exm75401 1 93580580 [A/T] NM_001164391,NM_001164392,NM_001164393,NM_007358 MTF2,MTF2,MTF2,MTF2 EXON Missense_C38S,Missense_C140S,Missense_C38S,Missense_C140S exm75402 1 93580581 [C/G] NM_001164391,NM_001164392,NM_001164393,NM_007358 MTF2,MTF2,MTF2,MTF2 EXON Missense_C38S,Missense_C140S,Missense_C38S,Missense_C140S indel.4879 1 93580644 [D/I] NM_001164391,NM_001164392,NM_001164393,NM_007358 MTF2,MTF2,MTF2,MTF2 EXON exm2260857 1 93584606 [A/G] NM_001164391,NM_001164392,NM_001164393,NM_007358 MTF2,MTF2,MTF2,MTF2 Silent,Silent,Silent,Silent rs11801977 1 93591636 [A/G] NM_001164391,NM_001164392,NM_001164393,NM_007358 MTF2,MTF2,MTF2,MTF2 Silent,Silent,Silent,Silent exm75437 1 93599677 [A/G] NM_001164391,NM_001164392,NM_001164393,NM_007358 MTF2,MTF2,MTF2,MTF2 EXON Missense_N348S,Missense_N393S,Missense_N348S,Missense_N450S exm75446 1 93602292 [A/G] NM_001164391,NM_001164392,NM_001164393,NM_007358 MTF2,MTF2,MTF2,MTF2 EXON Missense_R395Q,Missense_R440Q,Missense_R395Q,Missense_R497Q exm75448 1 93602364 [A/G] NM_001164391,NM_001164392,NM_001164393,NM_007358 MTF2,MTF2,MTF2,MTF2 EXON Missense_G419D,Missense_G464D,Missense_G419D,Missense_G521D exm75451 1 93602439 [A/G] NM_001164391,NM_001164392,NM_001164393,NM_007358 MTF2,MTF2,MTF2,MTF2 EXON Missense_N444S,Missense_N489S,Missense_N444S,Missense_N546S exm75455 1 93620318 [A/G] NM_016040,NM_001167830,NR_030761 TMED5,TMED5,TMED5 EXON Missense_M200T,Silent,Silent exm2234004 1 93620328 [T/A] NM_016040,NM_001167830,NR_030761 TMED5,TMED5,TMED5 EXON Missense_F197I,Silent,Silent exm75457 1 93620354 [T/C] NM_016040,NM_001167830,NR_030761 TMED5,TMED5,TMED5 EXON Missense_Q188R,Silent,Silent newrs138776730 1 93620355 [A/G] NM_016040,NM_001167830,NR_030761 TMED5,TMED5,TMED5 EXON Nonsense_Q188X,Silent,Silent exm75460 1 93620393 [A/G] NM_016040,NM_001167830,NR_030761 TMED5,TMED5,TMED5 EXON Missense_T175I,Synonymous_N191N,Silent indel.4882 1 93625685 [D/I] NM_016040,NM_001167830,NR_030761 TMED5,TMED5,TMED5 var_1_93645613 1 93645613 [A/G] NM_016040,NM_001167830,NR_030761 TMED5,TMED5,TMED5 EXON Nonsense_Q63X,Nonsense_Q63X,Silent variant.4891 1 93649533 [A/G] NM_206886 CCDC18 Silent 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 rs7513705 1 93666349 [T/C] NM_206886 CCDC18 Silent 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 variant.4903 1 93680524 [A/G] NM_206886 CCDC18 Silent 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 rs519723 1 93704326 [A/G] NM_206886 CCDC18 Silent 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 rs12030843 1 93720070 [G/C] NM_206886 CCDC18 EXON Missense_L1081V exm75612 1 93720070 [G/C] NM_206886 CCDC18 EXON Missense_L1081V exm2275462 1 93720153 [A/G] NM_206886 CCDC18 EXON Synonymous_R1108R rs633789 1 93723476 [A/G] NM_206886 CCDC18 Silent indel.4911 1 93724336 [D/I] NM_206886 CCDC18 EXON 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 indel.4912 1 93730409 [I/D] NM_206886 CCDC18 EXON exm75630 1 93730427 [T/C] NM_206886 CCDC18 EXON Missense_I1285T rs12085959 1 93741025 [T/C] NM_206886 CCDC18 Silent exm75645 1 93812276 [T/C] NM_001938 DR1 EXON Missense_T25I variant.4913 1 93812427 [A/G] NM_001938 DR1 Silent rs12133576 1 93816400 [A/G] NM_001938 DR1 Silent exm75651 1 93826068 [A/G] NM_001938 DR1 EXON Missense_E135K exm75655 1 93826178 [A/T] NM_001938 DR1 EXON Missense_E171D rs8561 1 93826455 [A/G] NM_001938 DR1 EXON Silent rs2162276 1 93875371 [T/G] rs7339890 1 93897624 [T/C] rs2493645 1 93907020 [A/G] rs17109997 1 93941449 [A/G] NM_001164473,NM_001024948,NM_017737 FNBP1L,FNBP1L,FNBP1L Silent,Silent,Silent exm75666 1 93988986 [A/G] NM_001164473,NM_001024948,NM_017737 FNBP1L,FNBP1L,FNBP1L EXON Missense_A94T,Missense_A94T,Missense_A94T variant.4914 1 93989880 [T/C] NM_001164473,NM_001024948,NM_017737 FNBP1L,FNBP1L,FNBP1L EXON Synonymous_N135N,Synonymous_N135N,Synonymous_N135N var_1_93995257 1 93995257 [T/C] NM_001164473,NM_001024948,NM_017737 FNBP1L,FNBP1L,FNBP1L EXON Nonsense_Q152X,Nonsense_Q152X,Nonsense_Q152X 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 rs237438 1 94002813 [T/G] NM_001164473,NM_001024948,NM_017737 FNBP1L,FNBP1L,FNBP1L Silent,Silent,Silent indel.4916 1 94009728 [D/I] NM_001164473,NM_001024948,NM_017737 FNBP1L,FNBP1L,FNBP1L EXON 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 indel.4917 1 94027865 [I/D] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON exm75719 1 94027910 [C/G] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_G789A,Missense_G698A,Missense_G789A,Missense_G789A rs237435 1 94030534 [T/C] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 Silent,Silent,Silent,Silent exm75724 1 94032862 [T/C] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_R758Q,Missense_R667Q,Missense_R758Q,Missense_R758Q exm75725 1 94032881 [T/C] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_E752K,Missense_E661K,Missense_E752K,Missense_E752K exm75728 1 94032937 [T/C] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_N733S,Missense_N642S,Missense_N733S,Missense_N733S indel.4919 1 94032949 [I/D] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON exm75734 1 94032991 [A/G] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_T715M,Missense_T624M,Missense_T715M,Missense_T715M exm75735 1 94033042 [A/G] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_T698I,Missense_T607I,Missense_T698I,Missense_T698I exm75745 1 94037330 [A/G] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_A624V,Missense_A533V,Missense_A624V,Missense_A624V exm75750 1 94037397 [A/G] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_H602Y,Missense_H511Y,Missense_H602Y,Missense_H602Y rs236316 1 94044597 [T/C] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 Silent,Silent,Silent,Silent exm75769 1 94048105 [A/T] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_D480V,Missense_D389V,Missense_D480V,Missense_D480V rs12062278 1 94048153 [T/C] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_E464G,Missense_E373G,Missense_E464G,Missense_E464G exm75774 1 94048153 [T/C] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_E464G,Missense_E373G,Missense_E464G,Missense_E464G exm75779 1 94048294 [A/G] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_S417L,Missense_S326L,Missense_S417L,Missense_S417L rs3950119 1 94049237 [T/C] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 Silent,Silent,Silent,Silent exm75793 1 94049576 [A/G] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Synonymous_I344I,Synonymous_I253I,Synonymous_I344I,Synonymous_I344I exm75801 1 94054577 [T/C] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_V296I,Missense_V205I,Missense_V296I,Missense_V296I exm75802 1 94054627 [A/G] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_T279I,Missense_T188I,Missense_T279I,Missense_T279I exm75808 1 94054684 [T/C] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_R260Q,Missense_R169Q,Missense_R260Q,Missense_R260Q exm75812 1 94054724 [T/C] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_A247T,Missense_A156T,Missense_A247T,Missense_A247T exm75815 1 94054751 [A/G] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_R238C,Missense_R147C,Missense_R238C,Missense_R238C exm75816 1 94054765 [T/C] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_C233Y,Missense_C142Y,Missense_C233Y,Missense_C233Y exm75821 1 94054820 [T/C] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_V215M,Missense_V124M,Missense_V215M,Missense_V215M exm2275463 1 94054835 [C/G] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_E210Q,Missense_E119Q,Missense_E210Q,Missense_E210Q exm75822 1 94054843 [T/C] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 EXON Missense_R207Q,Missense_R116Q,Missense_R207Q,Missense_R207Q rs236322 1 94056279 [T/G] NM_003567,NM_001261410,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3,BCAR3 Silent,Silent,Silent,Silent exm75831 1 94057835 [T/C] NM_003567,NM_001261410,NM_001261409,NM_001261408,NR_034091 BCAR3,BCAR3,BCAR3,BCAR3,LOC100129046 EXON Missense_R158H,Missense_R67H,Missense_R158H,Missense_R158H,Silent rs236306 1 94081407 [A/G] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 Silent,Silent,Silent exm75838 1 94107891 [T/C] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 EXON Missense_H109R,Missense_H109R,Missense_H109R exm2268725 1 94115299 [T/C] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 Silent,Silent,Silent rs236285 1 94132788 [A/G] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 Silent,Silent,Silent exm75840 1 94140189 [T/C] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 EXON Missense_G100S,Missense_G100S,Missense_G100S exm75843 1 94140199 [G/C] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 EXON Missense_Q96H,Missense_Q96H,Missense_Q96H exm75851 1 94140375 [A/G] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 EXON Missense_R38C,Missense_R38C,Missense_R38C exm75852 1 94140377 [A/T] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 EXON Missense_H37L,Missense_H37L,Missense_H37L indel.4926 1 94140444 [D/I] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 EXON exm75855 1 94140470 [T/A] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 EXON Missense_F6Y,Missense_F6Y,Missense_F6Y exm75856 1 94140479 [C/G] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 EXON Missense_A3G,Missense_A3G,Missense_A3G rs1011903 1 94143719 [T/C] NM_003567,NM_001261409,NM_001261408 BCAR3,BCAR3,BCAR3 Silent,Silent,Silent rs2893248 1 94160787 [T/C] NM_001261408 BCAR3 Silent rs4847183 1 94185344 [T/C] NM_001261408 BCAR3 Silent rs871854 1 94197793 [A/G] NM_001261408 BCAR3 Silent rs1108528 1 94206162 [A/C] NM_001261408 BCAR3 Silent rs12410101 1 94210906 [T/C] NM_001261408 BCAR3 Silent rs11164974 1 94214272 [T/C] NM_001261408 BCAR3 Silent rs4526623 1 94224065 [T/C] NM_001261408 BCAR3 Silent rs10158448 1 94228900 [A/G] NM_001261408 BCAR3 Silent rs2391313 1 94241556 [A/G] NM_001261408 BCAR3 Silent rs6701957 1 94250201 [A/C] NM_001261408 BCAR3 Silent rs12406729 1 94272119 [A/G] NM_001261408 BCAR3 Silent rs11165012 1 94291481 [T/C] NM_001261408 BCAR3 Silent exm1940232 1 94335432 [T/C] NM_014597 DNTTIP2 EXON Missense_R749Q exm75867 1 94335436 [A/C] NM_014597 DNTTIP2 EXON Missense_F748V variant.4927 1 94335522 [T/G] NM_014597 DNTTIP2 Silent rs12041975 1 94336935 [T/C] NM_014597 DNTTIP2 Silent 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 rs4847264 1 94340556 [T/G] NM_014597 DNTTIP2 Silent kgp7964759 1 94341267 [A/G] NM_014597 DNTTIP2 EXON Synonymous_F580F 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 variant.4931 1 94342406 [T/G] NM_014597 DNTTIP2 EXON Nonsense_S362X rs3747965 1 94342564 [A/C] NM_014597 DNTTIP2 EXON Missense_E309D exm75907 1 94342564 [A/C] NM_014597 DNTTIP2 EXON Missense_E309D exm75909 1 94342647 [T/C] NM_014597 DNTTIP2 EXON Missense_E282K rs3789457 1 94343233 [T/C] NM_014597 DNTTIP2 EXON Synonymous_E86E variant.4933 1 94343270 [T/G] NM_014597 DNTTIP2 EXON Nonsense_S74X exm75925 1 94343294 [T/C] NM_014597 DNTTIP2 EXON Missense_K66R exm75926 1 94343375 [A/G] NM_014597 DNTTIP2 EXON Missense_T39I rs2235971 1 94344716 [T/C] NM_014597 DNTTIP2 EXON Silent rs6687387 1 94346327 [A/G] rs11165029 1 94348081 [A/C] kgp421816 1 94352842 [T/C] NM_002061 GCLM EXON Silent kgp904130 1 94353449 [T/G] NM_002061 GCLM EXON Silent kgp4419341 1 94353573 [T/C] NM_002061 GCLM EXON Silent kgp2262685 1 94353668 [T/C] NM_002061 GCLM EXON Silent rs17880076 1 94353795 [T/G] NM_002061 GCLM EXON Silent kgp15530290 1 94353925 [C/G] NM_002061 GCLM EXON Silent exm75937 1 94354629 [T/G] NM_002061 GCLM EXON Missense_L248M rs769211 1 94360107 [A/C] NM_002061 GCLM Silent rs17880087 1 94360198 [T/C] NM_002061 GCLM EXON Missense_I209M exm75944 1 94362293 [C/G] NM_002061 GCLM EXON Missense_E141Q exm75947 1 94363421 [A/G] NM_002061 GCLM EXON Missense_S104L rs12062047 1 94363437 [T/C] NM_002061 GCLM EXON Missense_E99K rs718873 1 94371909 [T/C] NM_002061 GCLM Silent rs3789453 1 94374026 [T/C] NM_002061 GCLM Silent rs7543184 1 94386808 [T/C] rs6696758 1 94394079 [A/G] rs7520019 1 94400045 [A/G] rs10874819 1 94419799 [T/C] rs743117 1 94441950 [T/C] kgp10440772 1 94458657 [T/C] NM_000350 ABCA4 EXON Silent kgp15851336 1 94458659 [T/C] NM_000350 ABCA4 EXON Silent kgp25247447 1 94458709 [T/G] NM_000350 ABCA4 EXON Silent exm75970 1 94461717 [A/C] NM_000350 ABCA4 EXON Missense_S2255I kgp15274466 1 94461749 [T/C] NM_000350 ABCA4 EXON Synonymous_V2244V 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 rs3789375 1 94465132 [T/G] NM_000350 ABCA4 Silent rs12070273 1 94466088 [A/G] NM_000350 ABCA4 Silent newrs140142529 1 94466426 [A/G] NM_000350 ABCA4 EXON Nonsense_R2149X exm75994 1 94466624 [T/C] NM_000350 ABCA4 EXON Missense_R2107H rs2297669 1 94466625 [T/G] NM_000350 ABCA4 EXON Missense_R2107S kgp12093801 1 94467447 [A/G] NM_000350 ABCA4 EXON Synonymous_I2083I exm76012 1 94467548 [C/G] NM_000350 ABCA4 EXON Missense_V2050L exm76014 1 94471025 [T/C] NM_000350 ABCA4 EXON Missense_R2040Q newrs61753038 1 94471026 [A/G] NM_000350 ABCA4 EXON Nonsense_R2040X exm76016 1 94471055 [T/C] NM_000350 ABCA4 EXON Missense_R2030Q newrs61751408 1 94471065 [A/G] NM_000350 ABCA4 EXON Missense_L2027F exm76018 1 94471065 [A/G] NM_000350 ABCA4 EXON Missense_L2027F rs1762114 1 94471075 [A/G] NM_000350 ABCA4 EXON Synonymous_I2023I rs3789379 1 94472520 [A/G] NM_000350 ABCA4 Silent 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 rs2275029 1 94473845 [T/C] NM_000350 ABCA4 EXON Synonymous_P1948P exm76031 1 94473846 [A/G] NM_000350 ABCA4 EXON Missense_P1948L rs4147857 1 94474328 [T/C] NM_000350 ABCA4 EXON Synonymous_L1938L 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 rs2065712 1 94476035 [T/C] NM_000350 ABCA4 Silent exm76043 1 94476377 [T/C] NM_000350 ABCA4 EXON Missense_R1898H kgp7546508 1 94476388 [G/C] NM_000350 ABCA4 EXON Synonymous_L1894L exm2273664 1 94476477 [A/G] NM_000350 ABCA4 EXON Missense_H1865Y exm76052 1 94476484 [A/T] NM_000350 ABCA4 EXON Synonymous_G1862G rs945067 1 94477893 [T/C] NM_000350 ABCA4 Silent exm76067 1 94480221 [G/C] NM_000350 ABCA4 EXON Missense_P1780A variant.4960 1 94480241 [A/G] NM_000350 ABCA4 EXON Missense_A1773V rs915201 1 94481596 [A/G] NM_000350 ABCA4 Silent indel.4963 1 94485165 [D/I] NM_000350 ABCA4 EXON 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 rs6681879 1 94485277 [A/C] NM_000350 ABCA4 EXON Missense_V1686G 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 newrs61750155 1 94487251 [T/G] NM_000350 ABCA4 EXON Missense_A1598D exm76100 1 94487404 [T/C] NM_000350 ABCA4 EXON Missense_G1591R newrs1800551 1 94487443 [T/C] NM_000350 ABCA4 EXON Missense_G1578R exm1941553 1 94487460 [A/G] NM_000350 ABCA4 EXON Missense_T1572M exm76109 1 94487490 [A/G] NM_000350 ABCA4 EXON Missense_I1562T rs2151847 1 94489975 [A/C] NM_000350 ABCA4 Silent exm76114 1 94490534 [A/G] NM_000350 ABCA4 EXON Missense_T1537M exm76121 1 94490588 [A/G] NM_000350 ABCA4 EXON Missense_T1519M rs3945204 1 94492773 [T/C] NM_000350 ABCA4 Silent 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 kgp25059502 1 94496602 [T/G] NM_000350 ABCA4 EXON Synonymous_P1401P exm76150 1 94496666 [A/G] NM_000350 ABCA4 EXON Missense_P1380L exm76165 1 94497563 [T/C] NM_000350 ABCA4 EXON Missense_R1300Q 1KG_1_94502312 1 94502312 [I/D] NM_000350 ABCA4 EXON newrs61752424 1 94502756 [A/G] NM_000350 ABCA4 EXON Missense_T1253M exm76186 1 94502888 [A/G] NM_000350 ABCA4 EXON Missense_M1209T kgp15587918 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 kgp15617551 1 94510255 [A/G] NM_000350 ABCA4 EXON Synonymous_L988L 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 kgp15642711 1 94512602 [T/C] NM_000350 ABCA4 EXON Missense_V931M exm76248 1 94514424 [T/C] NM_000350 ABCA4 EXON Missense_D915N newrs139035971 1 94514424 [T/C] NM_000350 ABCA4 EXON Missense_D915N exm76251 1 94514466 [T/C] NM_000350 ABCA4 EXON Missense_T901A newrs61749441 1 94514475 [T/C] NM_000350 ABCA4 EXON Missense_E898K 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 indel.5010 1 94517239 [D/I] NM_000350 ABCA4 EXON exm76261 1 94517254 [C/G] NM_000350 ABCA4 EXON Missense_G863A exm76266 1 94520708 [A/G] NM_000350 ABCA4 EXON Missense_V849A kgp24780775 1 94520708 [A/G] NM_000350 ABCA4 EXON Missense_V849A newrs143100856 1 94520733 [T/G] NM_000350 ABCA4 EXON Missense_Q841K exm76271 1 94520768 [A/G] NM_000350 ABCA4 EXON Missense_T829M exm76278 1 94522177 [T/C] NM_000350 ABCA4 EXON Missense_A788T rs497511 1 94523113 [A/G] NM_000350 ABCA4 Silent variant.5016 1 94526106 [A/G] NM_000350 ABCA4 EXON Missense_T716M var_1_94526265 1 94526265 [T/C] NM_000350 ABCA4 EXON Nonsense_W663X exm76289 1 94526284 [T/C] NM_000350 ABCA4 EXON Missense_I657V exm76291 1 94526289 [A/C] NM_000350 ABCA4 EXON Missense_F655C kgp15624315 1 94528138 [A/G] NM_000350 ABCA4 EXON Synonymous_D644D exm76297 1 94528142 [A/C] NM_000350 ABCA4 EXON Missense_V643G exm76298 1 94528143 [T/C] NM_000350 ABCA4 EXON Missense_V643M kgp24841447 1 94528192 [T/C] NM_000350 ABCA4 EXON Synonymous_A626A exm76302 1 94528209 [T/C] NM_000350 ABCA4 EXON Missense_R621G newrs61749409 1 94528266 [A/G] NM_000350 ABCA4 EXON Missense_R602W exm76307 1 94528278 [T/C] NM_000350 ABCA4 EXON Missense_V598M variant.5026 1 94528683 [T/C] NM_000350 ABCA4 EXON Missense_N582S variant.5027 1 94528728 [A/G] NM_000350 ABCA4 EXON Missense_V567A kgp15244607 1 94528729 [T/C] NM_000350 ABCA4 EXON Missense_V567M exm76312 1 94528774 [T/C] NM_000350 ABCA4 EXON Missense_V552I exm76316 1 94528806 [A/G] NM_000350 ABCA4 EXON Missense_L541P kgp8499517 1 94528818 [T/C] NM_000350 ABCA4 EXON Missense_R537H exm76317 1 94528818 [T/C] NM_000350 ABCA4 EXON Missense_R537H newrs61748556 1 94528819 [A/G] NM_000350 ABCA4 EXON Missense_R537C newrs145718830 1 94528836 [T/C] NM_000350 ABCA4 EXON Missense_E531G exm76319 1 94528836 [T/C] NM_000350 ABCA4 EXON Missense_E531G rs553608 1 94531013 [T/C] NM_000350 ABCA4 Silent rs3789405 1 94531324 [T/C] NM_000350 ABCA4 Silent exm76321 1 94543268 [T/C] NM_000350 ABCA4 EXON Missense_R511H exm76322 1 94543278 [A/G] NM_000350 ABCA4 EXON Missense_R508C newrs1800548 1 94543389 [T/C] NM_000350 ABCA4 EXON Missense_E471K exm76331 1 94543389 [T/C] NM_000350 ABCA4 EXON Missense_E471K rs4147831 1 94544233 [A/G] NM_000350 ABCA4 EXON Synonymous_H423H exm76337 1 94544234 [T/C] NM_000350 ABCA4 EXON Missense_H423R exm76338 1 94544235 [A/G] NM_000350 ABCA4 EXON Missense_H423Y newrs61748550 1 94544895 [A/G] NM_000350 ABCA4 EXON Nonsense_R408X exm76348 1 94544977 [T/A] NM_000350 ABCA4 EXON Missense_N380K newrs142231757 1 94546135 [T/C] NM_000350 ABCA4 EXON Missense_R333Q newrs61748546 1 94546136 [A/G] NM_000350 ABCA4 EXON Missense_R333W exm76362 1 94546261 [A/G] NM_000350 ABCA4 EXON Missense_P291L exm1942187 1 94548919 [T/C] NM_000350 ABCA4 EXON Missense_R283G indel.5046 1 94548927 [I/D] NM_000350 ABCA4 EXON exm76363 1 94548928 [T/A] NM_000350 ABCA4 EXON Missense_M280L rs563429 1 94553866 [A/G] NM_000350 ABCA4 Silent rs4847196 1 94554453 [A/G] NM_000350 ABCA4 Silent rs554931 1 94557357 [T/C] NM_000350 ABCA4 Silent 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 kgp4271902 1 94564483 [T/C] NM_000350 ABCA4 EXON Missense_R212H exm2275465 1 94564500 [A/G] NM_000350 ABCA4 EXON Synonymous_S206S exm76380 1 94564522 [A/G] NM_000350 ABCA4 EXON Missense_A199V kgp15357830 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 newrs112467008 1 94568675 [T/C] NM_000350 ABCA4 EXON Missense_I156V exm76387 1 94568675 [T/C] NM_000350 ABCA4 EXON Missense_I156V exm76389 1 94568686 [T/C] NM_000350 ABCA4 EXON Missense_R152Q newrs80309162 1 94568686 [T/C] NM_000350 ABCA4 EXON Missense_R152Q rs481931 1 94570016 [T/G] NM_000350 ABCA4 Silent exm1942421 1 94574205 [A/G] NM_000350 ABCA4 EXON Missense_R124C indel.5054 1 94574243 [D/I] NM_000350 ABCA4 EXON exm76392 1 94574258 [T/A] NM_000350 ABCA4 EXON Missense_Y106F rs3789435 1 94576360 [A/G] NM_000350 ABCA4 Silent rs2297635 1 94576893 [A/G] NM_000350 ABCA4 Silent exm76394 1 94577002 [G/C] NM_000350 ABCA4 EXON Missense_N98K newrs61748529 1 94577010 [T/C] NM_000350 ABCA4 EXON Missense_N96D newrs61751412 1 94577082 [T/C] NM_000350 ABCA4 EXON Missense_G72R exm76401 1 94577135 [T/C] NM_000350 ABCA4 EXON Missense_C54Y rs1889404 1 94577423 [T/C] NM_000350 ABCA4 Silent kgp5797567 1 94578548 [T/C] NM_000350 ABCA4 EXON Synonymous_P47P exm76403 1 94578549 [A/G] NM_000350 ABCA4 EXON Missense_P47L variant.5059 1 94578618 [T/C] NM_000350 ABCA4 EXON Missense_R24H newrs150452677 1 94578619 [A/G] NM_000350 ABCA4 EXON Missense_R24C rs3789439 1 94579426 [T/C] NM_000350 ABCA4 Silent rs3789441 1 94581384 [T/C] NM_000350 ABCA4 Silent rs4147798 1 94585009 [T/C] NM_000350 ABCA4 Silent exm76407 1 94586550 [A/G] NM_000350 ABCA4 EXON Missense_R18W rs11165081 1 94594080 [A/C] rs6686599 1 94596831 [A/G] rs1931565 1 94596867 [A/G] rs4847286 1 94607848 [T/G] exm-rs2774920 1 94611300 [A/G] rs12742802 1 94629643 [A/C] rs1048866 1 94638711 [T/C] NM_004815 ARHGAP29 EXON Silent 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 variant.5061 1 94640159 [T/C] NM_004815 ARHGAP29 EXON Missense_V1018I 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 rs1048854 1 94643531 [T/C] NM_004815 ARHGAP29 EXON Synonymous_Q891Q 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 exm2253910 1 94652062 [T/C] NM_004815 ARHGAP29 EXON Synonymous_S591S exm76483 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 rs4847294 1 94657769 [A/G] NM_004815 ARHGAP29 Silent rs7547705 1 94664158 [A/G] NM_004815 ARHGAP29 Silent rs1541098 1 94667970 [T/C] NM_004815 ARHGAP29 Silent rs1541099 1 94668046 [T/C] NM_004815 ARHGAP29 Silent 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 rs2274788 1 94674726 [T/C] NM_004815 ARHGAP29 Silent rs3789689 1 94685585 [T/G] NM_004815 ARHGAP29 Silent exm76539 1 94685903 [T/C] NM_004815 ARHGAP29 EXON Missense_R84H rs6541343 1 94689027 [A/G] NM_004815 ARHGAP29 Silent rs3789688 1 94691240 [T/C] NM_004815 ARHGAP29 Silent exm76544 1 94696978 [T/C] NM_004815 ARHGAP29 EXON Missense_E64K indel.5062 1 94697125 [I/D] NM_004815 ARHGAP29 EXON exm76553 1 94697167 [T/C] NM_004815 ARHGAP29 EXON Missense_M1V kgp22780445 1 94698970 [T/C] NM_004815 ARHGAP29 Silent rs3814019 1 94704396 [A/G] rs11165110 1 94752469 [A/G] rs1687932 1 94760462 [T/G] rs1330855 1 94760885 [A/G] rs11580391 1 94769368 [T/C] rs16928 1 94786514 [T/C] rs11802896 1 94790397 [A/G] kgp6035129 1 94791006 [A/G] rs17111426 1 94792424 [T/C] rs1687939 1 94843876 [T/C] rs2391467 1 94850443 [A/G] rs10399785 1 94877801 [T/C] rs6660167 1 94888021 [T/G] NM_002858,NM_001122674 ABCD3,ABCD3 Silent,Silent rs610088 1 94899682 [T/C] NM_002858,NM_001122674 ABCD3,ABCD3 Silent,Silent exm76563 1 94924174 [A/G] NM_002858,NM_001122674 ABCD3,ABCD3 EXON Missense_G41E,Missense_G41E rs927728 1 94929485 [T/G] NM_002858,NM_001122674 ABCD3,ABCD3 Silent,Silent exm2234029 1 94953137 [A/G] NM_002858 ABCD3 EXON Missense_M313V exm76598 1 94955371 [A/G] NM_002858 ABCD3 EXON Synonymous_K416K indel.5064 1 94955377 [I/D] NM_002858 ABCD3 rs1749541 1 94958378 [A/G] NM_002858 ABCD3 Silent variant.5065 1 94964161 [T/C] NM_002858 ABCD3 EXON Nonsense_R464X variant.5066 1 94964590 [A/G] NM_002858 ABCD3 EXON Synonymous_L540L 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 newrs139997737 1 94998038 [T/C] NM_001993,NM_001178096 F3,F3 Silent,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 newrs142597330 1 95005820 [A/G] NM_001993,NM_001178096 F3,F3 EXON Nonsense_Q69X,Nonsense_Q69X 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 rs1361600 1 95007918 [T/C] rs2762509 1 95025421 [T/C] rs6668501 1 95050326 [A/G] rs12758064 1 95052267 [T/G] rs12029080 1 95053353 [T/G] rs841680 1 95054940 [A/C] rs1772904 1 95055132 [T/C] rs841685 1 95058428 [T/C] rs1778214 1 95061355 [A/G] rs1772895 1 95068347 [A/G] rs7542900 1 95070041 [T/C] rs10874867 1 95083836 [T/C] rs10782983 1 95085258 [T/C] rs1539622 1 95085927 [A/G] rs12738550 1 95090677 [A/G] rs12725602 1 95093351 [A/G] rs2794489 1 95105307 [A/G] rs2996284 1 95107254 [T/C] rs3885983 1 95110447 [T/G] rs11165191 1 95120228 [T/C] rs17111996 1 95122518 [T/G] rs11165192 1 95127463 [T/C] rs6668794 1 95134903 [A/G] rs841344 1 95138084 [T/C] exm2268913 1 95140173 [T/G] rs12021681 1 95145453 [T/C] rs7522944 1 95151009 [A/G] rs841361 1 95151813 [T/C] rs4240960 1 95154785 [T/C] rs12120217 1 95161617 [A/G] rs1891873 1 95170056 [T/G] rs6541361 1 95171891 [T/G] rs1027307 1 95173343 [T/C] rs6665058 1 95177368 [T/C] rs2640062 1 95185274 [T/G] rs3933012 1 95195432 [A/G] rs1689166 1 95207442 [T/C] rs10493875 1 95207524 [A/G] rs1146267 1 95220161 [T/C] rs1146268 1 95220414 [T/C] rs17406046 1 95220538 [A/G] rs7525706 1 95235919 [A/C] rs3860336 1 95236282 [A/G] rs17414905 1 95239080 [T/C] rs4847214 1 95240822 [T/C] rs6678909 1 95259174 [A/G] rs3849302 1 95259359 [A/C] rs11590799 1 95269752 [A/C] rs6686047 1 95273964 [T/C] exm2268726 1 95276691 [T/C] exm76670 1 95286518 [G/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Silent,Missense_G14A,Missense_G14A,Silent,Missense_G14A,Silent exm76673 1 95290064 [T/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_Y15H,Missense_Y51H,Missense_Y51H,Missense_Y15H,Missense_Y51H,Missense_Y3H variant.5070 1 95293103 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_G71R,Missense_G107S,Missense_G107S,Missense_G71S,Missense_G107R,Missense_G59S variant.5071 1 95293108 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Silent,Synonymous_T108T,Synonymous_T108T,Synonymous_T72T,Silent,Synonymous_T60T newrs137975014 1 95294047 [A/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent exm76687 1 95294047 [A/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent rs2640066 1 95294370 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent rs915012 1 95297374 [T/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent exm76693 1 95303290 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_R110Q,Missense_R178Q,Missense_R178Q,Missense_R142Q,Missense_R146Q,Missense_R130Q exm1948977 1 95303364 [T/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Nonsense_R135X,Nonsense_R203X,Nonsense_R203X,Nonsense_R167X,Nonsense_R171X,Nonsense_R155X variant.5075 1 95303428 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent exm76698 1 95305504 [A/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_A156D,Missense_A224D,Missense_A224D,Missense_A188D,Missense_A192D,Missense_A176D exm76701 1 95305578 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_I181V,Missense_I249V,Missense_I249V,Missense_I213V,Missense_I217V,Missense_I201V exm76702 1 95307600 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_D201N,Missense_D269N,Missense_D269N,Missense_D233N,Missense_D237N,Missense_D221N exm1949012 1 95307636 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_M213V,Missense_M281V,Missense_M281V,Missense_M245V,Missense_M249V,Missense_M233V rs698964 1 95309772 [T/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent rs698963 1 95310618 [T/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent rs696620 1 95317464 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent exm76721 1 95322899 [T/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Nonsense_Q293X,Nonsense_Q361X,Nonsense_Q361X,Nonsense_Q325X,Nonsense_Q329X,Nonsense_Q313X newrs184943086 1 95322899 [T/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Nonsense_Q293X,Nonsense_Q361X,Nonsense_Q361X,Nonsense_Q325X,Nonsense_Q329X,Nonsense_Q313X exm76722 1 95322902 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_V294I,Missense_V362I,Missense_V362I,Missense_V326I,Missense_V330I,Missense_V314I exm76723 1 95322939 [T/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_S306L,Missense_S374L,Missense_S374L,Missense_S338L,Missense_S342L,Missense_S326L exm76727 1 95322960 [T/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_S313L,Missense_S381L,Missense_S381L,Missense_S345L,Missense_S349L,Missense_S333L rs9432593 1 95324990 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent exm1949117 1 95330297 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent exm76734 1 95330361 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_H366R,Missense_H434R,Missense_H434R,Missense_H398R,Missense_H402R,Missense_H386R exm76735 1 95330372 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_V370I,Missense_V438I,Missense_V438I,Missense_V402I,Missense_V406I,Missense_V390I exm76736 1 95330373 [T/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_V370A,Missense_V438A,Missense_V438A,Missense_V402A,Missense_V406A,Missense_V390A exm76740 1 95330427 [T/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_M388T,Missense_M456T,Missense_M456T,Missense_M420T,Missense_M424T,Missense_M408T rs3849306 1 95332624 [T/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent exm1949130 1 95332906 [T/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_R404M,Missense_R471M,Missense_R472M,Missense_R436M,Missense_R439M,Missense_R424M variant.5080 1 95332917 [T/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Nonsense_R408X,Nonsense_R475X,Nonsense_R476X,Nonsense_R440X,Nonsense_R443X,Nonsense_R428X exm76744 1 95332918 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_R408Q,Missense_R475Q,Missense_R476Q,Missense_R440Q,Missense_R443Q,Missense_R428Q rs7531174 1 95338091 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent rs859081 1 95346830 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent rs859067 1 95351921 [T/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent rs2282382 1 95352973 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent exm76748 1 95356809 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_I468V,Missense_I535V,Missense_I536V,Missense_I500V,Missense_I503V,Missense_I488V exm76749 1 95357849 [T/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_C477R,Missense_C544R,Missense_C545R,Missense_C509R,Missense_C512R,Missense_C497R indel.5083 1 95357932 [I/D] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON exm76753 1 95357952 [T/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_A511V,Missense_A578V,Missense_A579V,Missense_A543V,Missense_A546V,Missense_A531V exm76754 1 95358036 [T/C] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON Missense_S539L,Missense_S606L,Missense_S607L,Missense_S571L,Missense_S574L,Missense_S559L rs859063 1 95358096 [A/G] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 Silent,Silent,Silent,Silent,Silent,Silent indel.5085 1 95360400 [D/I] NM_001258343,NM_001258340,NM_001114106,NM_001258342,NM_001258341,NM_152369 SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3,SLC44A3 EXON 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 rs7534566 1 95372100 [A/C] NM_001839 CNN3 Silent rs859044 1 95381030 [A/C] NM_001839 CNN3 Silent rs859040 1 95384670 [T/G] NM_001839 CNN3 Silent rs1271952 1 95417348 [T/C] NR_033998 LOC729970 Silent rs6667676 1 95421315 [A/G] NR_033998 LOC729970 Silent rs6541375 1 95429026 [T/G] rs7551774 1 95446762 [A/G] rs11165285 1 95471456 [T/C] NM_144988 ALG14 Silent rs6687388 1 95515124 [T/C] NM_144988 ALG14 Silent rs6675668 1 95515637 [T/G] NM_144988 ALG14 Silent rs6671842 1 95524503 [T/G] NM_144988 ALG14 Silent exm76806 1 95530448 [A/G] NM_144988 ALG14 EXON Nonsense_R88X exm76808 1 95530528 [T/C] NM_144988 ALG14 EXON Missense_N61S rs12755096 1 95536715 [A/G] NM_144988 ALG14 Silent exm76818 1 95538415 [T/C] NM_144988 ALG14 EXON Missense_V14M exm76819 1 95538424 [T/C] NM_144988 ALG14 EXON Missense_A11T rs9437689 1 95549536 [T/C] rs4950059 1 95551129 [T/C] rs6665763 1 95567336 [T/C] NM_001199679 TMEM56 Silent rs6680551 1 95567854 [A/G] NM_001199679 TMEM56 Silent rs4950076 1 95577297 [T/C] NM_001199679 TMEM56 Silent rs1023330 1 95586773 [T/C] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 Silent,Silent,Silent exm76824 1 95609563 [C/G] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 EXON Missense_P36A,Missense_P36A,Missense_P36A rs17113072 1 95611717 [A/G] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 Silent,Silent,Silent rs10157254 1 95614566 [A/C] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 Silent,Silent,Silent exm76830 1 95615786 [A/G] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 EXON Missense_V90M,Missense_V90M,Missense_V90M rs2148796 1 95622341 [T/C] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 Silent,Silent,Silent rs11165328 1 95630461 [A/C] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 Silent,Silent,Silent rs10782999 1 95634602 [A/G] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 Silent,Silent,Silent rs11165334 1 95638667 [A/G] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 Silent,Silent,Silent rs10458508 1 95643224 [T/C] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 Silent,Silent,Silent indel.5090 1 95657224 [I/D] NM_001199679,NM_152487,NM_001199691 TMEM56,TMEM56,TMEM56-RWDD3 EXON rs2039614 1 95690269 [T/C] NM_001199691 TMEM56-RWDD3 Silent rs1414896 1 95692310 [A/G] NM_001199691 TMEM56-RWDD3 Silent exm-rs1414896 1 95692310 [A/G] NM_001199691 TMEM56-RWDD3 Silent rs11165348 1 95694770 [A/G] NM_001199691 TMEM56-RWDD3 Silent rs6666528 1 95697490 [A/C] NM_001199691 TMEM56-RWDD3 Silent exm76844 1 95699811 [T/C] NM_001199691,NR_037643,NM_001199682,NM_015485,NM_001128142 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_001199682,NM_015485,NM_001128142 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_001199682,NM_015485,NM_001128142 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Silent,Missense_P19S,Missense_P19S,Missense_P19S rs1160318 1 95703444 [T/G] NM_001199691,NR_037643,NM_001199682,NM_015485,NM_001128142 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 Silent,Silent,Silent,Silent,Silent rs259359 1 95709039 [A/G] NM_001199691,NR_037643,NM_001199682,NM_015485,NM_001128142 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 Silent,Silent,Silent,Silent,Silent exm76855 1 95709780 [T/C] NM_001199691,NR_037643,NM_001199682,NM_015485,NM_001128142 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_001199682,NM_015485,NM_001128142 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Silent,Missense_V47A,Missense_V47A,Missense_V47A indel.5093 1 95709853 [D/I] NM_001199691,NR_037643,NM_001199682,NM_015485,NM_001128142 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON exm76862 1 95709939 [T/G] NM_001199691,NR_037643,NM_001199682,NM_015485,NM_001128142 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_001199682,NM_015485,NM_001128142 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Silent,Missense_R167G,Missense_R167G,Missense_R167G indel.5095 1 95710206 [D/I] NM_001199691,NR_037643,NM_001199682,NM_015485,NM_001128142 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON exm76869 1 95710231 [C/G] NM_001199691,NR_037643,NM_001199682,NM_015485,NM_001128142 TMEM56-RWDD3,RWDD3,RWDD3,RWDD3,RWDD3 EXON Silent,Silent,Silent,Missense_Q184E,Missense_Q184E rs10783001 1 95718941 [T/C] rs11165361 1 95741611 [T/C] rs259323 1 95749439 [A/G] rs650611 1 95754014 [A/G] rs6683355 1 95773106 [T/C] rs2236389 1 95776618 [A/G] rs4949960 1 95781217 [T/C] rs4604740 1 95789603 [T/C] rs912651 1 95798900 [A/G] rs11165383 1 95800553 [T/C] rs4950046 1 95810750 [T/C] rs4523562 1 95811910 [A/G] rs12562298 1 95828652 [A/G] rs17113446 1 95829831 [T/C] rs11165406 1 95832611 [A/G] rs7524217 1 95837686 [A/G] rs2391684 1 95850648 [T/C] rs4428940 1 95865533 [T/C] rs10874921 1 95867674 [T/G] rs11590987 1 95877746 [A/G] rs7547980 1 95884729 [A/G] rs2064663 1 95902901 [T/C] exm2254070 1 95902901 [T/C] rs1474883 1 95903597 [T/C] rs17113575 1 95917695 [T/C] rs6692957 1 95929401 [A/G] rs1415564 1 95947234 [T/C] rs12409850 1 95947820 [A/G] rs10874924 1 95966161 [T/C] exm2268914 1 95966161 [T/C] rs1577863 1 95967757 [A/G] rs874821 1 95973030 [A/C] rs1582123 1 95977445 [A/G] rs881713 1 95985066 [A/G] rs12566519 1 95989978 [T/C] rs10783011 1 96002882 [T/C] rs12354293 1 96013073 [A/G] rs6593669 1 96034482 [T/C] rs661595 1 96051831 [T/G] rs10489560 1 96052746 [T/C] rs670074 1 96056162 [T/G] rs684149 1 96056974 [A/G] rs10489562 1 96058550 [A/G] rs573117 1 96072754 [T/C] rs588093 1 96106197 [A/C] rs3108719 1 96115365 [T/C] rs17114028 1 96118307 [A/G] rs585463 1 96143185 [A/G] rs6686569 1 96143433 [A/C] rs6693882 1 96145968 [A/G] exm-rs6693882 1 96145968 [A/G] rs11803770 1 96151539 [T/C] rs7554994 1 96152973 [T/C] rs2700335 1 96158128 [T/C] rs12751587 1 96159819 [A/G] rs4950073 1 96163965 [T/C] rs1931262 1 96174912 [T/C] rs6678734 1 96176563 [A/G] rs10874942 1 96214251 [A/G] rs6677579 1 96220903 [A/G] rs4245671 1 96258121 [T/C] rs11589942 1 96272062 [T/G] rs10874955 1 96274009 [T/C] rs4545389 1 96279245 [T/C] rs4472800 1 96280456 [T/G] rs17114164 1 96293810 [A/G] rs6593686 1 96296426 [A/G] rs1935569 1 96303910 [A/G] rs2391710 1 96306787 [A/G] rs6670360 1 96308556 [T/C] rs7536165 1 96319712 [T/C] rs6682623 1 96319900 [T/C] rs6679428 1 96321437 [A/G] rs6660896 1 96337028 [A/G] rs12754240 1 96351754 [A/C] exm2254080 1 96366808 [T/C] rs6593689 1 96393689 [A/G] rs6679418 1 96403391 [T/C] rs6593693 1 96426052 [A/G] rs6663724 1 96432494 [A/C] rs10783030 1 96442134 [A/G] rs321271 1 96454876 [A/G] rs321270 1 96457002 [T/G] rs321269 1 96457465 [T/C] rs2125421 1 96458324 [T/C] rs321244 1 96475548 [T/G] rs607674 1 96481556 [T/C] rs635754 1 96484940 [A/G] rs1379971 1 96486756 [T/C] rs589482 1 96486967 [A/G] rs161120 1 96496399 [T/C] rs161114 1 96500593 [T/C] rs1146535 1 96506530 [T/G] rs66512 1 96511272 [T/C] rs150892 1 96516252 [T/C] rs1146540 1 96528940 [T/C] rs1144325 1 96539243 [T/C] rs6672740 1 96544805 [T/C] rs686101 1 96564857 [T/C] rs12140320 1 96581785 [T/C] rs1222069 1 96595179 [A/C] rs12567412 1 96610271 [T/C] rs17422897 1 96630199 [T/C] rs1146557 1 96634994 [A/G] rs321559 1 96638203 [A/G] rs321565 1 96656005 [A/G] rs321576 1 96660592 [A/G] rs7539465 1 96680000 [T/C] rs12730665 1 96683642 [A/G] rs17114753 1 96686494 [A/G] rs321588 1 96688818 [A/G] rs1872733 1 96694568 [T/C] rs1041048 1 96695786 [T/C] kgp618712 1 96696976 [T/C] rs161994 1 96745594 [A/G] rs1480666 1 96756638 [T/C] rs326677 1 96787405 [T/C] rs325953 1 96818456 [T/C] rs11165603 1 96836370 [A/G] rs12132961 1 96854358 [A/G] rs2968485 1 96869933 [T/C] rs547703 1 96874164 [A/G] rs672046 1 96877745 [T/G] rs12026788 1 96880146 [A/G] rs510552 1 96891671 [A/G] rs7512263 1 96941158 [A/C] rs10489741 1 96942406 [A/G] rs7546614 1 96942976 [A/C] exm-rs1973993 1 96943994 [T/C] exm-rs1555543 1 96944797 [A/C] rs6593602 1 96951281 [A/G] rs6677997 1 96954561 [A/G] rs11165656 1 96961107 [A/G] rs6701031 1 96975515 [T/C] rs7541994 1 96984344 [A/G] rs2256459 1 96985039 [A/G] rs1967769 1 96993449 [T/C] rs11165660 1 96993561 [T/G] rs3912027 1 96993603 [T/G] rs12751763 1 96997655 [T/C] rs6593611 1 97001996 [T/C] exm2265030 1 97016984 [A/G] rs6677110 1 97018734 [A/C] rs11165671 1 97023443 [T/G] rs1925833 1 97023641 [A/C] rs2477893 1 97031756 [T/C] exm-rs10783050 1 97037083 [T/C] rs957841 1 97052366 [A/G] rs6693873 1 97098359 [T/C] rs17115571 1 97100996 [A/G] rs1325755 1 97107005 [A/G] rs2220948 1 97110940 [A/G] exm2264875 1 97110940 [A/G] rs12071951 1 97113915 [T/G] rs6673531 1 97115049 [A/G] rs1409057 1 97146954 [A/G] exm-rs7544736 1 97164343 [A/G] rs7544736 1 97164343 [A/G] rs3908925 1 97177176 [A/G] rs12087010 1 97182039 [A/G] rs10875031 1 97196678 [T/C] NM_021190 PTBP2 Silent rs12563540 1 97199355 [T/C] NM_021190 PTBP2 Silent exm76890 1 97217055 [A/G] NM_021190 PTBP2 EXON Synonymous_T38T variant.5096 1 97235436 [A/G] NM_021190 PTBP2 Silent variant.5097 1 97278484 [T/C] NM_021190 PTBP2 EXON Missense_P463L rs273885 1 97279692 [T/C] NM_021190 PTBP2 EXON Silent rs654848 1 97297245 [A/G] rs635578 1 97304571 [A/C] rs11584143 1 97316690 [A/G] rs11584817 1 97325914 [T/G] kgp948510 1 97330233 [T/C] rs1976805 1 97377456 [T/C] rs4950016 1 97385644 [A/G] rs10493887 1 97410506 [T/C] rs995258 1 97431052 [A/C] rs290821 1 97469804 [A/C] rs11165761 1 97488820 [A/G] rs290857 1 97526732 [T/G] rs17430460 1 97542479 [A/C] rs290861 1 97542797 [T/C] kgp24779459 1 97543470 [T/C] NM_000110 DPYD EXON Silent rs17470762 1 97543632 [A/G] NM_000110 DPYD EXON Silent kgp25082977 1 97543749 [A/C] NM_000110 DPYD EXON Silent rs291593 1 97543752 [A/G] NM_000110 DPYD EXON Silent kgp4551945 1 97543764 [T/C] NM_000110 DPYD EXON Silent rs1042482 1 97543959 [T/C] NM_000110 DPYD EXON Silent kgp9217610 1 97544258 [A/G] NM_000110 DPYD EXON Silent kgp9525520 1 97544373 [T/C] NM_000110 DPYD EXON Silent 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 rs1801268 1 97544627 [A/C] NM_000110 DPYD EXON Missense_V995F 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 variant.5099 1 97548027 [T/C] NM_000110 DPYD Silent rs290807 1 97552243 [A/G] NM_000110 DPYD Silent rs6667364 1 97553007 [A/G] NM_000110 DPYD Silent 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 rs993568 1 97571799 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs2137975 1 97580323 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs970337 1 97584646 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs10493890 1 97588830 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs1709409 1 97602726 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs17432093 1 97613855 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs6593634 1 97635212 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs12759852 1 97641178 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs12079660 1 97651091 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs7513333 1 97663530 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs6593639 1 97670325 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs4128473 1 97672838 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent exm2254094 1 97681342 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs12046655 1 97682376 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs827497 1 97694442 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent variant.5101 1 97700521 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_A777S,Silent exm76962 1 97700526 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_L775W,Silent newrs56005131 1 97700547 [T/G] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_T768K,Silent rs533365 1 97703325 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs592609 1 97711452 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs12758854 1 97711561 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs495257 1 97721392 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs1520668 1 97735667 [G/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs10875062 1 97746924 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs6692946 1 97748929 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs10465748 1 97757424 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs4264037 1 97764073 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent variant.5104 1 97770839 [A/G] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Nonsense_R759X,Silent exm76966 1 97770919 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_V732G,Silent kgp9376732 1 97770920 [T/C] NM_000110,NR_046590 DPYD,DPYD-AS1 EXON Missense_V732I,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 rs7556439 1 97771947 [A/C] NM_000110,NR_046590 DPYD,DPYD-AS1 Silent,Silent rs10875069 1 97793775 [T/G] NM_000110 DPYD Silent rs10875071 1 97814678 [T/C] NM_000110 DPYD Silent rs11165845 1 97819405 [A/G] NM_000110 DPYD Silent exm-rs11165846 1 97819667 [G/C] NM_000110 DPYD Silent rs12124566 1 97830899 [A/G] NM_000110 DPYD Silent rs1879372 1 97833918 [T/C] NM_000110 DPYD Silent rs10875079 1 97841879 [A/G] NM_000110 DPYD Silent rs1415683 1 97845053 [T/G] NM_000110 DPYD Silent exm76982 1 97848017 [T/G] NM_000110 DPYD EXON Missense_I636L rs2152878 1 97853443 [T/C] NM_000110 DPYD Silent rs1577896 1 97867312 [T/C] NM_000110 DPYD Silent rs11165867 1 97878068 [T/C] NM_000110 DPYD Silent rs7516433 1 97903111 [T/C] NM_000110 DPYD Silent variant.5107 1 97915610 [A/C] NM_000110 DPYD Silent exm76983 1 97915614 [T/C] NM_000110 DPYD Silent exm76984 1 97915615 [A/G] NM_000110 DPYD EXON Synonymous_N635N rs17376848 1 97915624 [A/G] NM_000110 DPYD EXON Synonymous_F632F exm76986 1 97915655 [T/C] NM_000110 DPYD EXON Missense_C622Y newrs147601618 1 97915724 [A/G] NM_000110 DPYD EXON Missense_M599T rs3897854 1 97918306 [T/C] NM_000110 DPYD Silent rs11811436 1 97940231 [T/C] NM_000110 DPYD Silent rs12759539 1 97944341 [A/G] NM_000110 DPYD Silent rs11165880 1 97946840 [T/C] NM_000110 DPYD Silent exm2268730 1 97947883 [T/C] NM_000110 DPYD Silent rs2811183 1 97971252 [T/C] NM_000110 DPYD Silent rs7545340 1 97979726 [A/G] NM_000110 DPYD Silent exm76999 1 97981343 [A/C] NM_000110 DPYD EXON Missense_I560S SNP115 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 rs2811174 1 97990575 [T/C] NM_000110 DPYD Silent rs12063030 1 98001389 [A/C] NM_000110 DPYD Silent kgp15885871 1 98015146 [T/C] NM_000110 DPYD EXON Synonymous_Q498Q newrs72549304 1 98015165 [A/G] NM_000110 DPYD EXON Missense_S492L kgp24842837 1 98015269 [A/G] NM_000110 DPYD EXON Synonymous_N457N exm77019 1 98015282 [C/G] NM_000110 DPYD EXON Missense_P453R exm77021 1 98015291 [A/G] NM_000110 DPYD EXON Missense_A450V rs2786529 1 98017090 [C/G] NM_000110 DPYD Silent exm77026 1 98039375 [A/G] NM_000110 DPYD EXON Missense_V427A exm77028 1 98039395 [T/A] NM_000110 DPYD EXON Missense_N420K kgp8738400 1 98039419 [T/C] NM_000110 DPYD EXON Synonymous_E412E 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 rs2811203 1 98057444 [T/C] NM_000110 DPYD Silent exm1956973 1 98058782 [A/G] NM_000110 DPYD EXON Missense_P374S variant.5114 1 98058832 [T/C] NM_000110 DPYD EXON Missense_R357H rs1042478 1 98058867 [A/G] NM_000110 DPYD EXON Synonymous_F345F hCV32294341 1 98058899 [A/C] NM_000110 DPYD EXON Missense_V335L rs7533902 1 98079228 [T/C] NM_000110 DPYD Silent rs13375516 1 98126717 [A/C] NM_000110 DPYD Silent rs2151563 1 98143266 [A/G] NM_000110 DPYD Silent exm77051 1 98144726 [T/C] NM_000110 DPYD EXON Missense_K259E variant.5117 1 98157272 [T/C] NM_000110 DPYD Silent rs6675198 1 98157279 [A/G] NM_000110 DPYD EXON Synonymous_G252G rs1801266 1 98157332 [A/G] NM_000110 DPYD EXON Missense_R235W newrs146170505 1 98164926 [A/C] NM_000110 DPYD EXON Nonsense_E221X kgp15335138 1 98164948 [A/G] NM_000110 DPYD EXON Synonymous_D213D exm77059 1 98165030 [T/C] NM_000110 DPYD EXON Missense_Y186C exm77065 1 98165091 [T/C] NM_000110 DPYD EXON Missense_M166V kgp25180083 1 98185357 [T/C] NM_000110,NM_001160301 DPYD,DPYD EXON Silent,Silent kgp25205392 1 98185476 [T/C] NM_000110,NM_001160301 DPYD,DPYD EXON Silent,Silent rs2151562 1 98185527 [A/G] NM_000110,NM_001160301 DPYD,DPYD EXON Silent,Silent kgp12369057 1 98185700 [T/C] NM_000110,NM_001160301 DPYD,DPYD EXON Silent,Silent rs1333718 1 98186077 [T/C] NM_000110,NM_001160301 DPYD,DPYD EXON Silent,Silent kgp15897099 1 98186118 [A/G] NM_000110,NM_001160301 DPYD,DPYD EXON Silent,Silent kgp2286066 1 98186229 [T/C] NM_000110,NM_001160301 DPYD,DPYD EXON Silent,Silent kgp24802743 1 98186232 [T/C] NM_000110,NM_001160301 DPYD,DPYD EXON Silent,Silent variant.5122 1 98187061 [T/C] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent exm77072 1 98187098 [T/C] NM_000110,NM_001160301 DPYD,DPYD EXON Missense_N151D,Missense_N151D rs4304627 1 98187755 [T/C] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent rs17378455 1 98194845 [T/C] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent rs10747486 1 98253738 [A/G] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent rs13376217 1 98265943 [T/G] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent rs1974204 1 98290577 [T/C] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent newrs189768576 1 98293683 [A/G] NM_000110,NM_001160301 DPYD,DPYD EXON Nonsense_R74X,Nonsense_R74X newrs141597515 1 98293695 [A/G] NM_000110,NM_001160301 DPYD,DPYD EXON Nonsense_R70X,Nonsense_R70X rs11165921 1 98334990 [T/G] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent variant.5127 1 98348820 [A/G] NM_000110,NM_001160301 DPYD,DPYD EXON Synonymous_F50F,Synonymous_F50F rs1801265 1 98348885 [A/G] NM_000110,NM_001160301 DPYD,DPYD EXON Missense_R29C,Missense_R29C exm77084 1 98348885 [A/G] NM_000110,NM_001160301 DPYD,DPYD EXON Missense_R29C,Missense_R29C pgxUn0003 1 98348908 [T/C] NM_000110,NM_001160301 DPYD,DPYD EXON Missense_R21Q,Missense_R21Q rs9662870 1 98378786 [A/C] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent rs6692580 1 98382114 [T/G] NM_000110,NM_001160301 DPYD,DPYD Silent,Silent rs4970725 1 98394864 [A/G] rs9662365 1 98461443 [T/C] NR_046105 MIR137HG Silent rs6683447 1 98481750 [T/C] NR_046105 MIR137HG Silent rs9659996 1 98488863 [A/G] NR_046105 MIR137HG Silent exm-rs1625579 1 98502934 [T/G] NR_046105 MIR137HG Silent rs1198581 1 98530559 [T/C] rs11165950 1 98572374 [T/C] rs17117613 1 98576274 [T/C] rs355375 1 98588692 [A/G] rs12082064 1 98592888 [T/G] rs1487302 1 98595853 [A/C] rs4950107 1 98605732 [A/G] rs1507069 1 98616396 [T/G] rs17117845 1 98639563 [A/G] rs10493900 1 98645213 [A/G] rs822559 1 98652088 [T/G] rs822555 1 98667546 [A/G] exm2260898 1 98683104 [T/C] NR_046088 LOC729987 Silent rs2031245 1 98687633 [A/C] NR_046088 LOC729987 Silent rs12724493 1 98689392 [A/C] NR_046088 LOC729987 Silent rs1155644 1 98720270 [T/C] NR_046088 LOC729987 Silent rs822607 1 98730925 [A/C] NR_046088 LOC729987 Silent rs7532495 1 98750003 [A/G] rs11165976 1 98755006 [T/C] rs11165979 1 98757816 [T/C] rs12120750 1 98764432 [T/G] rs1075032 1 98778347 [T/C] rs11165996 1 98799369 [A/C] rs1028889 1 98806421 [T/C] rs1328307 1 98808760 [T/C] rs1013024 1 98819537 [A/G] rs10875145 1 98843371 [A/G] rs7541400 1 98846773 [T/C] rs728656 1 98855166 [A/G] rs7548836 1 98856577 [T/C] rs10875150 1 98866206 [T/C] rs10157812 1 98883541 [A/G] rs12030530 1 98893908 [A/G] rs11166015 1 98904871 [A/C] rs7530588 1 98913843 [A/G] rs4950129 1 98928271 [A/G] rs316053 1 98954240 [T/C] rs566731 1 98964541 [T/C] rs1724950 1 98965621 [A/G] rs1594867 1 98983135 [A/G] exm2254121 1 98993058 [T/C] rs12123631 1 99010292 [T/C] rs995271 1 99037251 [T/C] rs1434367 1 99039299 [A/G] rs12069484 1 99072344 [T/C] rs12037161 1 99097963 [A/G] rs12088344 1 99101223 [T/C] rs12088202 1 99108828 [T/G] rs12731647 1 99113106 [A/G] rs4469760 1 99132070 [A/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 Silent,Silent,Silent rs4540678 1 99141448 [A/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 Silent,Silent,Silent variant.5128 1 99150440 [A/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 Silent,Silent,Silent exm2254130 1 99150473 [T/C] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 EXON Silent,Synonymous_S71S,Synonymous_S71S exm77106 1 99156634 [A/T] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 EXON Silent,Missense_S123T,Missense_S123T rs12138303 1 99160827 [T/C] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 Silent,Silent,Silent exm2234062 1 99161131 [A/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 EXON Silent,Missense_V178I,Missense_V233I exm77120 1 99161184 [A/C] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 EXON Silent,Missense_F195L,Missense_F250L exm77121 1 99161221 [A/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 EXON Silent,Missense_K208E,Missense_K263E exm77126 1 99164378 [A/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 EXON Silent,Missense_A264T,Missense_A319T exm77128 1 99164395 [A/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 EXON Silent,Missense_M269I,Missense_M324I rs4351664 1 99166681 [A/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 Silent,Silent,Silent rs4545356 1 99173681 [A/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 Silent,Silent,Silent exm-rs9727115 1 99177253 [A/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 Silent,Silent,Silent rs4545357 1 99180910 [T/C] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 Silent,Silent,Silent rs6678214 1 99184272 [T/C] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 Silent,Silent,Silent rs12725220 1 99184798 [A/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 Silent,Silent,Silent rs6702126 1 99199954 [A/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 Silent,Silent,Silent exm77133 1 99203835 [T/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 EXON Silent,Missense_A335S,Missense_A390S rs992708 1 99209727 [T/C] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 Silent,Silent,Silent rs12025763 1 99219716 [A/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 Silent,Silent,Silent rs3813786 1 99224250 [T/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 Silent,Silent,Silent rs4908025 1 99225068 [T/C] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 Silent,Silent,Silent rs2019213 1 99225627 [A/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 EXON Silent,Synonymous_E377E,Synonymous_E432E exm77138 1 99225627 [A/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 EXON Silent,Synonymous_E377E,Synonymous_E432E exm2254132 1 99225627 [A/G] NR_033716,NM_152238,NM_015976 SNX7,SNX7,SNX7 EXON Silent,Synonymous_E377E,Synonymous_E432E rs11166113 1 99230383 [T/C] rs9661188 1 99242767 [T/C] rs10875184 1 99245060 [T/C] rs9728271 1 99263348 [T/C] rs2696358 1 99289282 [A/G] rs1384164 1 99290291 [A/G] rs1013468 1 99302782 [A/G] rs4908084 1 99310398 [A/G] rs1482144 1 99334672 [T/C] rs1482162 1 99348900 [A/G] rs984271 1 99358358 [T/G] NM_001010861,NM_001037317 LPPR5,LPPR5 EXON Silent,Silent rs2391986 1 99373498 [A/G] NM_001010861,NM_001037317 LPPR5,LPPR5 Silent,Silent rs2046178 1 99373609 [T/G] NM_001010861,NM_001037317 LPPR5,LPPR5 Silent,Silent rs7555367 1 99374045 [T/G] NM_001010861,NM_001037317 LPPR5,LPPR5 Silent,Silent newrs112548482 1 99380337 [A/G] NM_001010861,NM_001037317 LPPR5,LPPR5 Silent,Silent indel.5134 1 99380348 [I/D] NM_001010861,NM_001037317 LPPR5,LPPR5 EXON rs1329465 1 99383364 [T/C] NM_001010861,NM_001037317 LPPR5,LPPR5 Silent,Silent exm1958579 1 99387446 [T/C] NM_001010861,NM_001037317 LPPR5,LPPR5 EXON Missense_V264I,Missense_V264I rs1329464 1 99410959 [A/G] NM_001010861,NM_001037317 LPPR5,LPPR5 Silent,Silent rs309080 1 99415713 [A/G] NM_001010861,NM_001037317 LPPR5,LPPR5 Silent,Silent rs309083 1 99416102 [T/G] NM_001010861,NM_001037317 LPPR5,LPPR5 Silent,Silent rs309087 1 99418647 [C/G] NM_001010861,NM_001037317 LPPR5,LPPR5 EXON Synonymous_V200V,Synonymous_V200V exm77164 1 99422194 [A/G] NM_001010861,NM_001037317 LPPR5,LPPR5 EXON Missense_P114L,Missense_P114L rs2149738 1 99435366 [A/G] NM_001010861,NM_001037317 LPPR5,LPPR5 Silent,Silent rs6692269 1 99472175 [A/C] NR_033940 LOC100129620 Silent rs11166158 1 99499591 [A/G] NR_033940 LOC100129620 Silent rs7530449 1 99515902 [T/G] NR_033940 LOC100129620 Silent rs1118814 1 99516611 [A/G] NR_033940 LOC100129620 Silent rs7515995 1 99519111 [T/C] NR_033940 LOC100129620 Silent rs10158645 1 99532176 [T/G] NR_033940 LOC100129620 Silent rs11166167 1 99539892 [A/G] NR_033940 LOC100129620 Silent rs1505552 1 99549327 [T/C] NR_033940 LOC100129620 Silent rs1747985 1 99563065 [T/G] NR_033940 LOC100129620 Silent rs3850458 1 99566473 [T/C] NR_033940 LOC100129620 Silent rs3896046 1 99580912 [T/C] NR_033940 LOC100129620 Silent rs303386 1 99589379 [T/C] NR_033940 LOC100129620 Silent rs302748 1 99597328 [A/G] NR_033940 LOC100129620 Silent rs3889240 1 99601609 [T/G] NR_033940 LOC100129620 Silent rs863686 1 99610153 [A/G] NR_033940 LOC100129620 Silent rs302765 1 99618085 [T/C] rs683131 1 99636431 [T/C] rs819785 1 99655620 [A/G] rs680017 1 99667737 [A/G] rs12097141 1 99670492 [A/G] rs6660498 1 99682616 [A/G] rs7530667 1 99691732 [T/C] exm2268732 1 99691732 [T/C] rs12035062 1 99697631 [A/G] rs7528845 1 99698821 [T/C] rs17120117 1 99703278 [T/C] rs6683554 1 99706463 [T/C] rs712904 1 99723764 [T/C] rs12083740 1 99725220 [T/G] rs1456169 1 99733964 [T/G] NM_014839,NM_001166252 LPPR4,LPPR4 Silent,Silent rs712889 1 99748324 [T/C] NM_014839,NM_001166252 LPPR4,LPPR4 Silent,Silent rs712883 1 99756179 [T/C] NM_014839,NM_001166252 LPPR4,LPPR4 Silent,Silent 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 rs819908 1 99762659 [T/C] NM_014839,NM_001166252 LPPR4,LPPR4 Silent,Silent exm77206 1 99764770 [A/G] NM_014839,NM_001166252 LPPR4,LPPR4 EXON Missense_V240I,Missense_V240I rs819914 1 99765872 [A/G] NM_014839,NM_001166252 LPPR4,LPPR4 Silent,Silent newrs145222822 1 99766522 [A/G] NM_014839,NM_001166252 LPPR4,LPPR4 EXON Synonymous_S264S,Synonymous_S264S exm77216 1 99771308 [C/G] NM_014839,NM_001166252 LPPR4,LPPR4 EXON Missense_R345T,Missense_R287T variant.5136 1 99771931 [A/G] NM_014839,NM_001166252 LPPR4,LPPR4 EXON Missense_A553T,Missense_A495T exm77253 1 99772492 [A/G] NM_014839,NM_001166252 LPPR4,LPPR4 EXON Missense_R740G,Missense_R682G rs2148154 1 99783891 [A/G] rs12025099 1 99789514 [T/C] rs10493911 1 99811487 [A/G] rs12409296 1 99853467 [T/C] rs12021787 1 99864803 [T/C] exm2268916 1 99871756 [T/C] rs9919323 1 99872741 [T/C] rs6577377 1 99882119 [T/C] rs12076764 1 99893902 [T/C] rs17120392 1 99902365 [T/C] rs6695717 1 99913450 [T/G] rs1935720 1 99926891 [A/C] rs11166251 1 99932948 [T/G] rs4408174 1 99946091 [A/G] rs6577380 1 99963251 [A/C] rs2027358 1 99970499 [A/C] rs10875226 1 99970527 [A/G] rs12060602 1 99994648 [A/G] rs12069019 1 100005477 [A/G] rs1339866 1 100019269 [A/C] rs1339856 1 100043789 [A/G] rs7543130 1 100049785 [A/C] exm-rs7543130 1 100049785 [A/C] rs17120729 1 100051580 [A/G] rs6702910 1 100059035 [T/C] rs6689789 1 100079760 [T/C] rs12729121 1 100081117 [T/G] rs17648010 1 100086858 [A/G] rs834979 1 100087162 [A/G] rs834972 1 100097419 [T/C] rs834963 1 100102788 [A/G] rs834961 1 100105385 [A/G] rs17405754 1 100107260 [T/C] rs834992 1 100116394 [T/C] NM_017734 PALMD Silent variant.5138 1 100127960 [T/C] NM_017734 PALMD Silent exm77264 1 100133249 [C/G] NM_017734 PALMD EXON Missense_E60Q exm77266 1 100133290 [A/C] NM_017734 PALMD EXON Missense_H73Q rs7549467 1 100140509 [A/G] NM_017734 PALMD Silent rs10875241 1 100145443 [A/G] NM_017734 PALMD Silent rs12122854 1 100147287 [A/G] NM_017734 PALMD Silent rs12067797 1 100148279 [A/G] NM_017734 PALMD Silent rs12136177 1 100149952 [T/C] NM_017734 PALMD Silent exm77274 1 100152300 [T/C] NM_017734 PALMD EXON Missense_L107S exm77277 1 100152345 [C/G] NM_017734 PALMD EXON Missense_R122T rs1338576 1 100152443 [T/C] NM_017734 PALMD Silent exm1689650 1 100152489 [A/G] NM_017734 PALMD EXON Missense_V124M exm77288 1 100154373 [T/C] NM_017734 PALMD EXON Missense_T186I rs6678252 1 100154467 [A/G] NM_017734 PALMD EXON Synonymous_V217V 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 rs3766588 1 100156658 [T/C] NM_017734,NR_037516,NR_030382 PALMD,MIR548AA1,MIR548D1 Silent,Silent,Silent rs6679943 1 100163271 [T/C] NR_037516,NR_030382 MIR548AA1,MIR548D1 Silent,Silent rs12406373 1 100166046 [T/C] NR_037516,NR_030382 MIR548AA1,MIR548D1 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 variant.5145 1 100174767 [A/G] NR_037516,NR_030382,NM_001013660 MIR548AA1,MIR548D1,FRRS1 EXON Silent,Silent,Nonsense_Q549X variant.5146 1 100176357 [T/G] NR_037516,NR_030382,NM_001013660 MIR548AA1,MIR548D1,FRRS1 Silent,Silent,Silent var_1_100176385 1 100176385 [T/C] NR_037516,NR_030382,NM_001013660 MIR548AA1,MIR548D1,FRRS1 Silent,Silent,Silent 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 1KG_1_100177980 1 100177980 [D/I] NR_037516,NR_030382,NM_001013660 MIR548AA1,MIR548D1,FRRS1 EXON 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 variant.5149 1 100185163 [A/C] NM_001013660 FRRS1 EXON Nonsense_Y349X rs7531793 1 100190097 [A/G] NM_001013660 FRRS1 Silent rs12127323 1 100190843 [A/C] NM_001013660 FRRS1 Silent exm77394 1 100194126 [T/G] NM_001013660 FRRS1 EXON Missense_T310N exm77395 1 100194151 [T/G] NM_001013660 FRRS1 EXON Missense_Q302K rs7547543 1 100194962 [A/G] NM_001013660 FRRS1 Silent 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 indel.5152 1 100203747 [D/I] NM_001013660 FRRS1 EXON exm77424 1 100206478 [A/C] NM_001013660 FRRS1 EXON Missense_K149N exm2230631 1 100207765 [A/G] NM_001013660 FRRS1 EXON Missense_P133L variant.5153 1 100212850 [T/C] NM_001013660 FRRS1 EXON Synonymous_Q111Q 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 rs2788517 1 100225317 [T/C] NM_001013660 FRRS1 Silent rs12127190 1 100232074 [A/G] rs4908018 1 100234367 [A/C] rs6689305 1 100268991 [A/G] rs12401503 1 100271638 [T/C] rs1908150 1 100274681 [T/C] rs6577138 1 100274994 [A/G] rs6696562 1 100278603 [T/C] rs6663234 1 100280436 [A/G] rs10875268 1 100292904 [T/C] exm77444 1 100316589 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Silent,Silent,Silent,Silent,Silent exm77452 1 100318245 [T/G] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646 AGL,AGL,AGL,AGL,AGL EXON Silent,Silent,Silent,Silent,Missense_I7S rs2307129 1 100327026 [T/C] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Silent,Silent,Silent,Silent,Silent,Silent variant.5155 1 100327076 [T/C] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Nonsense_R34X,Nonsense_R34X,Nonsense_R34X,Nonsense_R34X,Nonsense_R18X,Nonsense_R17X exm77457 1 100327088 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_T38A,Missense_T38A,Missense_T38A,Missense_T38A,Missense_T22A,Missense_T21A newrs35278779 1 100327088 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_T38A,Missense_T38A,Missense_T38A,Missense_T38A,Missense_T22A,Missense_T21A variant.5157 1 100327094 [T/C] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Nonsense_Q40X,Nonsense_Q40X,Nonsense_Q40X,Nonsense_Q40X,Nonsense_Q24X,Nonsense_Q23X exm77462 1 100327200 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_D75G,Missense_D75G,Missense_D75G,Missense_D75G,Missense_D59G,Missense_D58G newrs193186112 1 100327232 [T/C] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Nonsense_Q86X,Nonsense_Q86X,Nonsense_Q86X,Nonsense_Q86X,Nonsense_Q70X,Nonsense_Q69X exm77467 1 100327860 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_W208R,Missense_W208R,Missense_W208R,Missense_W208R,Missense_W192R,Missense_W191R rs2640911 1 100331265 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent,Silent rs574592 1 100331481 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent,Silent exm77479 1 100335977 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Synonymous_P474P,Synonymous_P474P,Synonymous_P474P,Synonymous_P474P,Synonymous_P458P,Synonymous_P457P variant.5161 1 100342158 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent,Silent rs3736295 1 100342227 [T/C] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent,Silent exm77522 1 100343254 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_R494H,Missense_R494H,Missense_R494H,Missense_R494H,Missense_R478H,Missense_R477H indel.5162 1 100343289 [I/D] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON exm77524 1 100343310 [A/T] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_T513S,Missense_T513S,Missense_T513S,Missense_T513S,Missense_T497S,Missense_T496S indel.5163 1 100343347 [I/D] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON variant.5164 1 100345603 [T/G] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent,Silent exm77528 1 100346211 [T/C] NM_000642,NM_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_G770R,Missense_G770R,Missense_G770R,Missense_G770R,Missense_G754R,Missense_G753R rs17409324 1 100349381 [A/C] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent,Silent exm77555 1 100349757 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_S841F,Missense_S841F,Missense_S841F,Missense_S841F,Missense_S825F,Missense_S824F variant.5166 1 100353580 [T/C] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Nonsense_R910X,Nonsense_R910X,Nonsense_R910X,Nonsense_R910X,Nonsense_R894X,Nonsense_R893X exm77568 1 100356777 [T/G] NM_000642,NM_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_Y1068C,Missense_Y1068C,Missense_Y1068C,Missense_Y1068C,Missense_Y1052C,Missense_Y1051C indel.5168 1 100366383 [D/I] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON exm77602 1 100368269 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_A1207T,Missense_A1207T,Missense_A1207T,Missense_A1207T,Missense_A1191T,Missense_A1190T variant.5169 1 100368302 [T/C] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Nonsense_R1218X,Nonsense_R1218X,Nonsense_R1218X,Nonsense_R1218X,Nonsense_R1202X,Nonsense_R1201X exm1689759 1 100368318 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_G1223D,Missense_G1223D,Missense_G1223D,Missense_G1223D,Missense_G1207D,Missense_G1206D rs1577541 1 100373601 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent,Silent exm77609 1 100376325 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_N1255S,Missense_N1255S,Missense_N1255S,Missense_N1255S,Missense_N1239S,Missense_N1238S indel.5171 1 100376381 [I/D] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON exm2249464 1 100376448 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent,Silent exm77620 1 100378008 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_R1295H,Missense_R1295H,Missense_R1295H,Missense_R1295H,Missense_R1279H,Missense_R1278H rs6577147 1 100378651 [T/C] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL Silent,Silent,Silent,Silent,Silent,Silent exm77624 1 100379160 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_K1351R,Missense_K1351R,Missense_K1351R,Missense_K1351R,Missense_K1335R,Missense_K1334R indel.5173 1 100379191 [I/D] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON exm77627 1 100379209 [A/G] NM_000642,NM_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,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_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Missense_V1484I,Missense_V1484I,Missense_V1484I,Missense_V1484I,Missense_V1468I,Missense_V1467I newrs12118058 1 100382265 [T/C] NM_000642,NM_000643,NM_000644,NM_000028,NM_000646,NM_000645 AGL,AGL,AGL,AGL,AGL,AGL EXON Nonsense_R1487X,Nonsense_R1487X,Nonsense_R1487X,Nonsense_R1487X,Nonsense_R1471X,Nonsense_R1470X rs12074648 1 100403265 [T/C] rs6703159 1 100405465 [T/C] rs1541044 1 100411287 [T/C] exm77659 1 100459132 [A/G] NM_012243,NM_001271684,NM_001271685 SLC35A3,SLC35A3,SLC35A3 EXON Missense_V8I,Missense_V8I,Missense_V50I rs11166389 1 100466279 [A/G] NM_012243,NM_001271684,NM_001271685 SLC35A3,SLC35A3,SLC35A3 Silent,Silent,Silent exm77671 1 100476986 [C/G] NM_012243,NM_001271684,NM_001271685 SLC35A3,SLC35A3,SLC35A3 EXON Missense_M177I,Missense_M177I,Missense_M219I indel.5178 1 100480902 [I/D] NM_012243,NM_001271684,NM_001271685 SLC35A3,SLC35A3,SLC35A3 EXON rs473688 1 100492867 [A/G] rs12406605 1 100502690 [T/C] exm77711 1 100534070 [C/G] NM_033055 HIAT1 EXON Missense_I249M indel.5181 1 100534136 [I/D] NM_033055 HIAT1 EXON 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 variant.5186 1 100573275 [T/C] NM_194292 SASS6 Silent 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 indel.5189 1 100575953 [D/I] NM_194292 SASS6 EXON indel.5190 1 100576003 [D/I] NM_194292 SASS6 EXON 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 indel.5192 1 100586932 [D/I] NM_194292 SASS6 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 rs561119 1 100603891 [A/G] NM_019083 TRMT13 Silent exm77839 1 100606023 [A/G] NM_019083 TRMT13 EXON Missense_N152D variant.5195 1 100606068 [T/C] NM_019083 TRMT13 EXON Nonsense_Q167X indel.5196 1 100606072 [D/I] NM_019083 TRMT13 exm77843 1 100606444 [A/C] NM_019083 TRMT13 EXON Missense_L180I rs499479 1 100612675 [A/G] NM_019083 TRMT13 Silent indel.5198 1 100613693 [I/D] NM_019083 TRMT13 EXON exm77873 1 100614629 [T/G] NM_019083,NM_001256385,NM_001256387,NM_144620,NM_001256386 TRMT13,LRRC39,LRRC39,LRRC39,LRRC39 EXON Silent,Silent,Missense_T326N,Missense_T326N,Missense_T326N exm1689894 1 100617941 [T/C] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_A318T,Missense_D318N,Missense_D318N,Missense_D318N exm77881 1 100617998 [T/C] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_E299K,Missense_E299K,Missense_E299K,Missense_E299K exm2249465 1 100618020 [A/G] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Synonymous_G291G,Synonymous_G291G,Synonymous_G291G,Synonymous_G291G exm77887 1 100620637 [T/G] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_P261Q,Missense_P261Q,Missense_P261Q,Missense_P261Q exm77890 1 100620713 [T/A] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_C236S,Missense_C236S,Missense_C236S,Missense_C236S exm77892 1 100620727 [T/C] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_R231Q,Missense_R231Q,Missense_R231Q,Missense_R231Q exm77893 1 100620728 [A/G] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Nonsense_R231X,Nonsense_R231X,Nonsense_R231X,Nonsense_R231X indel.5201 1 100621753 [D/I] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON exm77896 1 100621762 [T/G] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_N209H,Missense_N209H,Missense_N209H,Missense_N209H exm77906 1 100623806 [A/G] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_I165T,Missense_I165T,Missense_I165T,Missense_I165T exm77909 1 100623863 [T/C] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_K146R,Missense_K146R,Missense_K146R,Missense_K146R exm77912 1 100623922 [T/C] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Synonymous_G126G,Synonymous_G126G,Synonymous_G126G,Synonymous_G126G exm77913 1 100624830 [A/T] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_I121L,Missense_I121L,Missense_I121L,Missense_I121L exm77916 1 100624886 [A/G] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_I102T,Missense_I102T,Missense_I102T,Missense_I102T exm77918 1 100624961 [A/G] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_S77F,Missense_S77F,Missense_S77F,Missense_S77F exm77919 1 100626027 [T/A] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_W72R,Missense_W72R,Missense_W72R,Missense_W72R indel.5202 1 100626087 [D/I] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON variant.5203 1 100626105 [A/G] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Nonsense_R46X,Nonsense_R46X,Nonsense_R46X,Nonsense_R46X variant.5204 1 100626112 [T/C] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Nonsense_W43X,Nonsense_W43X,Nonsense_W43X,Nonsense_W43X exm77924 1 100626119 [T/C] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_R41Q,Missense_R41Q,Missense_R41Q,Missense_R41Q exm77925 1 100626120 [A/G] NM_001256385,NM_001256387,NM_144620,NM_001256386 LRRC39,LRRC39,LRRC39,LRRC39 EXON Missense_R41W,Missense_R41W,Missense_R41W,Missense_R41W rs2784172 1 100650664 [A/G] exm77936 1 100661842 [T/C] NM_001918 DBT EXON Missense_N473S variant.5205 1 100661917 [T/C] NM_001918 DBT EXON Nonsense_W448X exm77949 1 100672060 [T/C] NM_001918 DBT EXON Missense_S384G variant.5206 1 100672078 [A/G] NM_001918 DBT EXON Nonsense_Q378X 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 newrs74103423 1 100681641 [A/C] NM_001918 DBT EXON Nonsense_E224X indel.5210 1 100681641 [D/I] NM_001918 DBT EXON indel.5212 1 100681738 [I/D] NM_001918 DBT EXON rs6577156 1 100683627 [A/G] NM_001918 DBT Silent exm77972 1 100684204 [T/C] NM_001918 DBT EXON Missense_R178H exm77973 1 100684231 [T/C] NM_001918 DBT EXON Missense_R169Q variant.5213 1 100684304 [T/C] NM_001918 DBT Silent rs6682782 1 100693294 [A/G] NM_001918 DBT Silent exm77985 1 100706416 [A/G] NM_001918 DBT EXON Missense_C26R exm1689926 1 100715340 [T/C] NM_001918 DBT EXON Missense_N13D rs3806239 1 100731163 [A/G] 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 rs10158777 1 100742399 [T/C] NM_003729,NM_001130841 RTCA,RTCA Silent,Silent variant.5225 1 100752760 [A/G] NM_003729,NM_001130841 RTCA,RTCA Silent,Silent 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] rs3119187 1 100781361 [T/C] rs599215 1 100796296 [T/C] rs11166438 1 100800905 [T/G] 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 rs630646 1 100822776 [A/G] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A Silent,Silent,Silent rs17122338 1 100841993 [T/C] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A Silent,Silent,Silent rs7515882 1 100851842 [A/G] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A Silent,Silent,Silent rs10875290 1 100853755 [T/G] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A Silent,Silent,Silent 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 rs17122383 1 100860339 [A/C] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A Silent,Silent,Silent exm2273666 1 100889838 [A/C] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A EXON Missense_P124T,Missense_P124T,Missense_P124T indel.5227 1 100889844 [I/D] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A EXON rs491675 1 100902936 [A/G] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A Silent,Silent,Silent rs11166454 1 100910367 [A/G] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A Silent,Silent,Silent rs11809079 1 100914270 [A/G] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A Silent,Silent,Silent rs10493922 1 100919788 [A/G] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A Silent,Silent,Silent 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 rs7543221 1 100928424 [T/C] NM_033312,NM_003672,NM_033313 CDC14A,CDC14A,CDC14A EXON Synonymous_A275A,Synonymous_A275A,Synonymous_A275A 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 rs508020 1 100955532 [T/C] NM_033312,NM_003672 CDC14A,CDC14A Silent,Silent rs1566212 1 100959325 [T/C] NM_033312,NM_003672 CDC14A,CDC14A Silent,Silent variant.5230 1 100960486 [A/G] NM_033312,NM_003672 CDC14A,CDC14A EXON Missense_R417K,Missense_R417K 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 rs6680879 1 100965683 [T/C] NM_003672 CDC14A Silent exm2230645 1 100983817 [T/C] NM_003672 CDC14A EXON Missense_S589F rs10783134 1 100984092 [T/C] NM_003672 CDC14A EXON Silent rs11166470 1 100991649 [A/C] rs6577175 1 100996074 [T/C] rs7555025 1 100997680 [T/C] exm78172 1 101005175 [T/G] NM_022049 GPR88 EXON Missense_R218L rs10875304 1 101010077 [A/G] rs12565245 1 101019326 [T/G] rs11166475 1 101022112 [A/G] rs721385 1 101029715 [A/G] rs4908066 1 101033520 [T/C] rs2783674 1 101036419 [A/G] rs2809797 1 101036877 [T/C] rs2809789 1 101041054 [A/C] rs10875317 1 101045438 [T/G] rs2783719 1 101048203 [A/G] rs11166487 1 101051786 [T/C] rs7415343 1 101077323 [T/C] rs945329 1 101084273 [T/C] rs1815519 1 101084542 [A/G] rs11583008 1 101085094 [A/G] rs2484535 1 101107748 [T/C] NR_038914 LOC100128787 Silent rs3844028 1 101111615 [A/C] NR_038914 LOC100128787 Silent rs871151 1 101123737 [A/G] kgp10631877 1 101123830 [A/G] rs6680254 1 101181397 [A/G] rs1041163 1 101183825 [T/C] exm78182 1 101185447 [A/G] NM_001078,NM_080682,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_A11T,Missense_A11T,Missense_A11T exm78215 1 101194687 [T/C] NM_001078,NM_080682,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_S318F,Silent,Missense_S256F exm78224 1 101194884 [A/G] NM_001078,NM_080682,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_T384A,Silent,Missense_T322A exm78227 1 101196787 [G/C] NM_001078,NM_080682,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_G413A,Missense_G321A,Missense_G351A exm78238 1 101197012 [A/G] NM_001078,NM_080682,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_H488R,Missense_H396R,Missense_H426R exm78246 1 101198105 [A/G] NM_001078,NM_080682,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_G553R,Missense_G461R,Missense_G491R exm78247 1 101198111 [G/C] NM_001078,NM_080682,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_L555V,Missense_L463V,Missense_L493V exm78255 1 101200146 [A/T] NM_001078,NM_080682,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_N627K,Missense_N535K,Missense_N565K exm78258 1 101200219 [A/G] NM_001078,NM_080682,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_A652T,Missense_A560T,Missense_A590T rs3917018 1 101202222 [A/G] NM_001078,NM_080682,NM_001199834 VCAM1,VCAM1,VCAM1 Silent,Silent,Silent exm78264 1 101203691 [A/G] NM_001078,NM_080682,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_N691S,Missense_N599S,Missense_N629S exm78269 1 101203765 [T/A] NM_001078,NM_080682,NM_001199834 VCAM1,VCAM1,VCAM1 EXON Missense_I716L,Missense_I624L,Missense_I654L rs4908093 1 101215995 [T/C] rs1028819 1 101222807 [A/G] rs6680442 1 101224146 [T/C] rs1887101 1 101230852 [A/G] rs10875335 1 101231300 [T/C] rs6577209 1 101255080 [A/C] rs11166514 1 101257825 [A/G] rs4907926 1 101285547 [A/G] rs1571046 1 101299216 [T/C] rs7541397 1 101322866 [A/G] rs12048904 1 101331536 [T/C] rs3188491 1 101338482 [A/G] NM_001261441,NM_001261440,NM_001261442,NR_048570,NM_001439,NM_001033025 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Silent,Silent,Silent,Silent,Silent,Silent exm78281 1 101339635 [A/G] NM_001261441,NM_001261440,NM_001261442,NR_048570,NM_001439,NM_001033025 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Nonsense_R294X,Nonsense_R285X,Silent,Silent,Nonsense_R286X,Nonsense_R286X variant.5232 1 101339635 [A/G] NM_001261441,NM_001261440,NM_001261442,NR_048570,NM_001439,NM_001033025 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Nonsense_R294X,Nonsense_R285X,Silent,Silent,Nonsense_R286X,Nonsense_R286X exm78284 1 101339737 [T/C] NM_001261441,NM_001261440,NM_001261442,NR_048570,NM_001439,NM_001033025 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_I260V,Missense_I251V,Silent,Silent,Missense_I252V,Missense_I252V exm78286 1 101339776 [A/C] NM_001261441,NM_001261440,NM_001261442,NR_048570,NM_001439,NM_001033025 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_D247Y,Missense_D238Y,Silent,Silent,Missense_D239Y,Missense_D239Y exm78289 1 101339787 [A/G] NM_001261441,NM_001261440,NM_001261442,NR_048570,NM_001439,NM_001033025 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_A243V,Missense_A234V,Silent,Silent,Missense_A235V,Missense_A235V exm78292 1 101339863 [T/C] NM_001261441,NM_001261440,NM_001261442,NR_048570,NM_001439,NM_001033025 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_M218V,Missense_M209V,Silent,Silent,Missense_M210V,Missense_M210V variant.5233 1 101339915 [A/C] NM_001261441,NM_001261440,NM_001261442,NR_048570,NM_001439,NM_001033025 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Nonsense_Y200X,Nonsense_Y191X,Silent,Silent,Nonsense_Y192X,Nonsense_Y192X exm78294 1 101339977 [T/C] NM_001261441,NM_001261440,NM_001261442,NR_048570,NM_001439,NM_001033025 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_D180N,Missense_D171N,Synonymous_X148X,Silent,Missense_D172N,Missense_D172N variant.5234 1 101342352 [A/G] NM_001261441,NM_001261440,NM_001261442,NR_048570,NM_001439,NM_001033025 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Nonsense_Q176X,Nonsense_Q167X,Silent,Silent,Nonsense_Q168X,Nonsense_Q168X indel.5235 1 101343041 [D/I] NM_001261441,NM_001261440,NM_001261442,NR_048570,NM_001439,NM_001033025 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON variant.5236 1 101343065 [A/G] NM_001261441,NM_001261440,NM_001261442,NR_048570,NM_001439,NM_001033025 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Nonsense_R142X,Nonsense_R134X,Nonsense_R134X,Silent,Nonsense_R134X,Nonsense_R134X exm78302 1 101343250 [A/G] NM_001261441,NM_001261440,NM_001261442,NR_048570,NM_001439,NM_001033025 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_T80M,Missense_T72M,Missense_T72M,Silent,Missense_T72M,Missense_T72M exm1690021 1 101343310 [T/C] NM_001261441,NM_001261440,NM_001261442,NR_048570,NM_001439,NM_001033025 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_R60H,Missense_R52H,Missense_R52H,Silent,Missense_R52H,Missense_R52H exm78306 1 101343422 [G/C] NM_001261441,NM_001261440,NM_001261442,NR_048570,NM_001439,NM_001033025 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Missense_G23R,Missense_G15R,Missense_G15R,Silent,Missense_G15R,Missense_G15R rs7543296 1 101348100 [A/C] NM_001261441,NM_001261440,NM_001261442,NR_048570,NM_001439,NM_001033025 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 Silent,Silent,Silent,Silent,Silent,Silent newrs77649301 1 101354386 [T/C] NM_001261441,NM_001261440,NM_001261442,NR_048570,NM_001439,NM_001033025 EXTL2,EXTL2,EXTL2,EXTL2,EXTL2,EXTL2 EXON Silent,Silent,Silent,Silent,Silent,Silent rs17123491 1 101361178 [T/C] exm78314 1 101361856 [T/C] NM_001144884,NM_133496 SLC30A7,SLC30A7 EXON Missense_P13L,Missense_P13L indel.5238 1 101376646 [I/D] NM_001144884,NM_133496 SLC30A7,SLC30A7 EXON exm78326 1 101377678 [C/G] NM_001144884,NM_133496 SLC30A7,SLC30A7 EXON Missense_A132G,Missense_A132G indel.5239 1 101377736 [I/D] NM_001144884,NM_133496 SLC30A7,SLC30A7 EXON 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 rs11581062 1 101407519 [A/G] NM_001144884,NM_133496 SLC30A7,SLC30A7 Silent,Silent exm78376 1 101456010 [A/G] NM_001077395,NM_015958,NM_001077394 DPH5,DPH5,DPH5 EXON Missense_S270F,Missense_S271F,Missense_S271F indel.5241 1 101456028 [D/I] NM_001077395,NM_015958,NM_001077394 DPH5,DPH5,DPH5 EXON variant.5242 1 101458208 [A/G] NM_001077395,NM_015958,NM_001077394 DPH5,DPH5,DPH5 EXON Nonsense_R207X,Nonsense_R207X,Nonsense_R207X exm78382 1 101458271 [A/G] NM_001077395,NM_015958,NM_001077394 DPH5,DPH5,DPH5 EXON Missense_R186W,Missense_R186W,Missense_R186W rs11583043 1 101466054 [T/C] NM_001077395,NM_015958,NM_001077394 DPH5,DPH5,DPH5 Silent,Silent,Silent indel.5244 1 101479319 [I/D] NM_001077395,NM_015958,NM_001077394 DPH5,DPH5,DPH5 EXON rs7530338 1 101484352 [A/G] NM_001077395,NM_015958,NM_001077394 DPH5,DPH5,DPH5 Silent,Silent,Silent variant.5245 1 101487198 [T/C] NM_001077395,NM_015958,NM_001077394 DPH5,DPH5,DPH5 EXON Missense_G87R,Missense_G87R,Missense_G87R exm78390 1 101487246 [T/C] NM_001077395,NM_015958,NM_001077394 DPH5,DPH5,DPH5 EXON Missense_D71N,Missense_D71N,Missense_D71N variant.5246 1 101487323 [T/C] NM_001077395,NM_015958,NM_001077394 DPH5,DPH5,DPH5 Silent,Silent,Silent exm78393 1 101490936 [T/C] NM_001077395,NM_015958,NM_001077394 DPH5,DPH5,DPH5 EXON Missense_V22I,Missense_V22I,Missense_V22I exm-rs17410015 1 101551926 [T/C] rs10875350 1 101586819 [A/G] rs12746449 1 101589082 [T/C] rs12727971 1 101589175 [A/G] rs1983967 1 101606903 [T/C] rs7552136 1 101616430 [T/C] rs17123757 1 101622960 [T/C] rs625146 1 101624468 [T/C] rs7367938 1 101638999 [A/G] rs10875355 1 101647080 [A/G] rs1571498 1 101669840 [T/G] rs1041312 1 101669928 [A/G] rs12408201 1 101678531 [T/C] rs17123870 1 101684269 [T/C] rs12746702 1 101698388 [A/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 rs2031959 1 101711783 [T/G] exm2259666 1 101711964 [T/G] rs9433755 1 101722623 [A/G] rs9434153 1 101725605 [T/C] rs11166576 1 101740406 [A/G] rs7519801 1 101743821 [T/G] rs17124020 1 101744821 [T/C] rs910633 1 101749974 [A/G] rs7520706 1 101751884 [T/G] rs7516960 1 101756557 [A/G] rs878485 1 101757026 [A/G] rs12041851 1 101767274 [A/G] rs1033634 1 101768868 [A/C] rs12137590 1 101772220 [A/G] rs2010845 1 101778236 [T/G] rs9433784 1 101784340 [T/G] rs4908127 1 101795029 [T/C] rs4907933 1 101801342 [A/G] rs12564407 1 101809218 [A/G] rs4907938 1 101815604 [T/C] rs11164177 1 101830858 [T/C] rs11164183 1 101847845 [T/C] rs6577244 1 101848719 [T/C] rs6577246 1 101850130 [A/G] rs1388452 1 101851347 [T/C] rs7549900 1 101857117 [T/C] rs12403551 1 101864215 [A/G] rs10493947 1 101868793 [A/G] rs1491642 1 101868913 [A/G] rs1826316 1 101872865 [T/C] rs1602548 1 101876646 [T/G] rs17421741 1 101894763 [T/C] rs12118351 1 101919802 [A/G] rs11164201 1 101920805 [T/C] rs12069565 1 101924306 [A/G] rs1473510 1 101932014 [T/C] rs1777876 1 101933692 [T/C] exm-rs1948368 1 101938477 [A/G] rs1948368 1 101938477 [A/G] rs1361812 1 101939689 [T/G] rs1612840 1 101943331 [A/G] rs1776904 1 101950270 [T/G] rs6668197 1 101962952 [T/C] rs430012 1 101963857 [T/C] rs263908 1 101973613 [A/C] rs263912 1 101975151 [T/G] rs11584636 1 101979504 [T/C] rs1343364 1 101991399 [T/C] rs12137486 1 101994207 [T/C] rs1418931 1 101995341 [A/G] rs4626910 1 102017100 [T/C] rs1484308 1 102024942 [T/G] rs4908165 1 102033539 [T/C] rs10493958 1 102069696 [A/G] rs1484315 1 102080843 [T/C] rs12080747 1 102085498 [A/G] rs6672980 1 102087717 [A/G] rs4908170 1 102090174 [A/C] rs4907947 1 102095912 [T/G] rs7514091 1 102110713 [T/C] rs11800181 1 102120197 [T/G] exm2268919 1 102159783 [T/C] rs9803851 1 102159783 [T/C] rs11164278 1 102184478 [T/C] rs11164280 1 102192809 [A/G] rs6702059 1 102193300 [A/C] rs17426819 1 102194625 [A/G] rs10874506 1 102197513 [A/C] rs4908177 1 102200830 [A/C] rs2339135 1 102229165 [T/C] rs11164296 1 102236122 [A/C] rs1327583 1 102237818 [T/C] rs1470438 1 102239205 [A/G] rs1470436 1 102253545 [A/G] variant.5249 1 102270045 [A/C] NM_058170 OLFM3 EXON Nonsense_E376X exm78444 1 102270082 [G/C] NM_058170 OLFM3 EXON Missense_K363N exm78460 1 102271702 [A/G] NM_058170 OLFM3 EXON Missense_T210I rs4907955 1 102271774 [A/G] NM_058170 OLFM3 Silent rs6661054 1 102294507 [T/C] NM_058170 OLFM3 Silent exm78469 1 102296236 [A/G] NM_058170 OLFM3 EXON Missense_H122Y exm78470 1 102296248 [A/G] NM_058170 OLFM3 EXON Missense_L118F rs6656847 1 102298765 [T/C] NM_058170 OLFM3 Silent rs6665643 1 102298999 [A/G] NM_058170 OLFM3 Silent variant.5251 1 102302434 [T/C] NM_058170 OLFM3 Silent exm78475 1 102302475 [T/C] NM_058170 OLFM3 EXON Missense_R59Q rs9324336 1 102304094 [T/C] NM_058170 OLFM3 Silent rs769163 1 102304152 [T/C] NM_058170 OLFM3 Silent rs4907956 1 102312703 [T/G] NM_058170 OLFM3 Silent rs2050572 1 102326159 [T/C] NM_058170 OLFM3 Silent rs7528218 1 102344571 [A/C] NM_058170,NR_033424 OLFM3,DNAJA1P5 Silent,Silent rs11800637 1 102357104 [A/C] NM_058170,NR_033424 OLFM3,DNAJA1P5 Silent,Silent rs17125667 1 102357987 [T/C] NM_058170,NR_033424 OLFM3,DNAJA1P5 Silent,Silent rs3748653 1 102359002 [T/C] NM_058170,NR_033424 OLFM3,DNAJA1P5 EXON Silent,Silent rs17432141 1 102359362 [A/G] NM_058170,NR_033424 OLFM3,DNAJA1P5 EXON Silent,Silent rs943556 1 102367162 [T/C] NM_058170 OLFM3 Silent rs2000150 1 102376258 [A/C] NM_058170 OLFM3 Silent rs7534442 1 102378636 [T/G] NM_058170 OLFM3 Silent rs12060073 1 102386104 [A/G] NM_058170 OLFM3 Silent exm2249471 1 102389733 [T/C] NM_058170 OLFM3 Silent rs1336806 1 102393844 [A/G] NM_058170 OLFM3 Silent rs1981159 1 102394835 [A/C] NM_058170 OLFM3 Silent rs755181 1 102404247 [T/C] NM_058170 OLFM3 Silent rs10782864 1 102417093 [A/G] NM_058170 OLFM3 Silent rs17487709 1 102426168 [T/C] NM_058170 OLFM3 Silent rs12737750 1 102427608 [T/C] NM_058170 OLFM3 Silent rs4908203 1 102428709 [A/G] NM_058170 OLFM3 Silent rs2339204 1 102443692 [A/C] NM_058170 OLFM3 Silent rs1415102 1 102447116 [T/C] NM_058170 OLFM3 Silent rs6657751 1 102469386 [T/C] rs1415094 1 102471839 [T/C] rs7529987 1 102477512 [T/G] rs10874533 1 102491704 [T/C] rs10874535 1 102511803 [T/C] rs10493980 1 102540084 [A/G] rs6684718 1 102562640 [A/C] rs6661510 1 102565669 [T/G] rs12088003 1 102572944 [A/G] rs12563410 1 102587593 [T/C] rs7527051 1 102601950 [T/G] exm2264878 1 102608577 [A/G] rs2000398 1 102618195 [A/G] rs1938344 1 102620164 [A/C] rs11164405 1 102629663 [T/C] rs1938350 1 102632935 [A/C] rs3008763 1 102647938 [T/G] rs1938368 1 102654557 [T/C] rs1938364 1 102667388 [A/G] rs4301653 1 102673499 [T/C] rs7530562 1 102681580 [A/G] rs11164417 1 102686309 [T/C] rs12139212 1 102694690 [T/C] rs6577309 1 102714517 [T/C] rs952484 1 102717010 [T/G] rs2889234 1 102742475 [T/C] rs10158366 1 102743350 [A/G] rs10874577 1 102747793 [A/G] rs12407943 1 102760382 [T/G] rs12061042 1 102816541 [T/C] rs7411744 1 102826835 [T/C] rs1341910 1 102827023 [T/C] rs12047658 1 102827931 [T/G] rs11164488 1 102841195 [T/C] rs1591960 1 102843599 [A/G] rs12402460 1 102843725 [T/C] rs12043531 1 102862791 [A/C] rs10747427 1 102869841 [T/C] rs12045655 1 102885930 [T/C] rs12060427 1 102922025 [A/G] rs3916220 1 102934974 [A/G] rs7550150 1 102938426 [T/C] rs12139288 1 102939690 [A/G] rs10874621 1 102959259 [T/C] rs17126670 1 102965685 [A/C] exm2268920 1 102968036 [T/C] rs12035823 1 102995218 [T/C] rs950061 1 102998264 [T/C] rs2889309 1 103010867 [T/C] rs7538167 1 103012046 [T/G] rs1607209 1 103024479 [A/G] rs4907976 1 103047426 [A/G] rs12723721 1 103062191 [T/C] rs11164556 1 103080187 [A/G] rs6577329 1 103118942 [A/G] exm-rs10874639 1 103133909 [A/G] rs1451033 1 103145383 [A/G] rs10782899 1 103155605 [A/G] rs11164585 1 103171943 [T/C] rs10493982 1 103171983 [A/G] rs1376359 1 103203107 [T/C] exm2264879 1 103216881 [A/G] rs606756 1 103238392 [T/C] rs7528798 1 103250122 [T/C] rs582076 1 103250731 [T/C] rs10782904 1 103251006 [A/G] rs1947285 1 103269431 [T/C] rs1241202 1 103305021 [A/C] rs11164621 1 103322312 [T/C] rs1031821 1 103326762 [A/G] rs9659030 1 103342392 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Silent,Silent,Silent exm78506 1 103343637 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_D1787N,Missense_D1671N,Missense_D1799N,Missense_D1748N exm78510 1 103345315 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_R1733H,Missense_R1617H,Missense_R1745H,Missense_R1694H exm2230660 1 103352512 [A/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_L1570P,Missense_L1454P,Missense_L1582P,Missense_L1531P exm78532 1 103354135 [G/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_P1536A,Missense_P1420A,Missense_P1548A,Missense_P1497A exm78533 1 103354138 [A/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_S1535P,Missense_S1419P,Missense_S1547P,Missense_S1496P rs1763347 1 103354428 [A/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Synonymous_G1504G,Synonymous_G1388G,Synonymous_G1516G,Synonymous_G1465G exm1690218 1 103354445 [A/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_P1499S,Missense_P1383S,Missense_P1511S,Missense_P1460S exm78541 1 103354472 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_I1490V,Missense_I1374V,Missense_I1502V,Missense_I1451V exm78549 1 103355059 [T/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_D1472E,Missense_D1356E,Missense_D1484E,Missense_D1433E exm78560 1 103364248 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_G1408S,Missense_G1292S,Missense_G1420S,Missense_G1369S rs1676504 1 103372655 [A/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent exm78569 1 103377744 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_A1353T,Missense_A1237T,Missense_A1365T,Missense_A1314T exm78571 1 103379193 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Synonymous_P1344P,Synonymous_P1228P,Synonymous_P1356P,Synonymous_P1305P rs3753841 1 103379918 [A/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_P1323L,Missense_P1207L,Missense_P1335L,Missense_P1284L exm78579 1 103379918 [A/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_P1323L,Missense_P1207L,Missense_P1335L,Missense_P1284L exm78597 1 103381192 [A/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_V1271L,Missense_V1155L,Missense_V1283L,Missense_V1232L rs12138977 1 103393457 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent variant.5257 1 103400613 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent variant.5258 1 103400616 [A/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Synonymous_A1164A,Synonymous_A1048A,Synonymous_A1176A,Synonymous_A1125A rs1120519 1 103402184 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent rs2622865 1 103407999 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent rs2616009 1 103409558 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent rs12084902 1 103410124 [A/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent rs2615996 1 103420053 [A/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent rs1012282 1 103427381 [A/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent exm78648 1 103428312 [T/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_P974Q,Missense_P858Q,Missense_P986Q,Missense_P935Q exm2265032 1 103432657 [A/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent rs12118365 1 103438795 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent exm1690276 1 103444283 [A/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_P912L,Missense_P796L,Missense_P924L,Missense_P873L exm78670 1 103444970 [A/T] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_F860I,Missense_F744I,Missense_F872I,Missense_F821I rs12124588 1 103446620 [A/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent exm78672 1 103453238 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_R818Q,Missense_R702Q,Missense_R830Q,Missense_R779Q exm78693 1 103468332 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_D672N,Missense_D556N,Missense_D684N,Missense_D633N exm78699 1 103468820 [C/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_P650R,Missense_P534R,Missense_P662R,Missense_P611R exm78706 1 103470210 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_R618Q,Missense_R502Q,Missense_R630Q,Missense_R579Q variant.5263 1 103480067 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Synonymous_R524R,Synonymous_R408R,Synonymous_R536R,Synonymous_R485R exm78716 1 103480117 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_T508A,Missense_T392A,Missense_T520A,Missense_T469A exm78722 1 103481285 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_R476H,Missense_R360H,Missense_R488H,Missense_R437H exm-rs945748 1 103483514 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent variant.5264 1 103484416 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent exm78738 1 103488342 [T/A] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_F401I,Silent,Missense_F413I,Missense_F362I exm78745 1 103488522 [C/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_E341Q,Silent,Missense_E353Q,Missense_E302Q exm78747 1 103491102 [A/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_P322L,Silent,Missense_P334L,Missense_P283L exm78753 1 103491163 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_I302V,Silent,Missense_I314V,Missense_I263V exm78754 1 103491354 [A/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent exm78760 1 103491461 [T/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Silent,Silent,Missense_K276N,Silent exm78764 1 103491777 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_T298A,Missense_T298A,Silent,Silent exm78767 1 103491824 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_E282G,Missense_E282G,Silent,Silent rs7523441 1 103496620 [T/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent exm78774 1 103496754 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_Y233C,Missense_Y233C,Missense_Y233C,Missense_Y233C rs12123031 1 103508275 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent exm2273668 1 103540265 [A/G] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_T187M,Missense_T187M,Missense_T187M,Missense_T187M exm78800 1 103548477 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_G53E,Missense_G53E,Missense_G53E,Missense_G53E exm78801 1 103548489 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_N49S,Missense_N49S,Missense_N49S,Missense_N49S exm78803 1 103548497 [A/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_D46E,Missense_D46E,Missense_D46E,Missense_D46E exm78804 1 103548505 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_A44T,Missense_A44T,Missense_A44T,Missense_A44T rs11164669 1 103554167 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent rs1337195 1 103554293 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent rs6577353 1 103556959 [T/C] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 Silent,Silent,Silent,Silent exm78807 1 103573683 [T/A] NM_001854,NM_080630,NM_080629,NM_001190709 COL11A1,COL11A1,COL11A1,COL11A1 EXON Missense_T18S,Missense_T18S,Missense_T18S,Missense_T18S rs17127492 1 103576364 [A/G] rs7543626 1 103578334 [A/G] rs11802357 1 103584570 [T/C] rs11164689 1 103603452 [T/G] rs12063514 1 103610579 [T/C] rs6692914 1 103612069 [T/C] rs7550030 1 103623133 [A/C] rs11164724 1 103663625 [T/C] rs2889352 1 103669167 [A/G] rs6683683 1 103671460 [A/G] rs11164733 1 103673437 [A/G] rs17127592 1 103685695 [A/G] rs6689743 1 103715386 [T/C] rs2376360 1 103734946 [A/G] rs7528387 1 103741344 [T/G] rs4907988 1 103744171 [A/G] rs2376362 1 103750676 [T/C] rs17127702 1 103754317 [T/G] rs17127731 1 103761463 [T/G] rs4907992 1 103763252 [A/G] rs1406135 1 103764640 [A/G] kgp11786646 1 103765339 [T/G] exm78819 1 104078809 [T/C] NM_017619 RNPC3 EXON Missense_P206L exm78829 1 104093571 [T/C] NM_017619 RNPC3 EXON Missense_I457T rs12132911 1 104113158 [T/C] NM_020978,NR_024438 AMY2B,ACTG1P4 EXON Silent,Silent exm78857 1 104116343 [A/G] NM_020978 AMY2B EXON Missense_R176H exm78858 1 104116375 [A/C] NM_020978 AMY2B EXON Missense_K187Q var_1_104118138 1 104118138 [A/G] NM_020978 AMY2B EXON Nonsense_W359X 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 rs6661612 1 104128618 [A/G] 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 rs1930212 1 104324819 [A/G] rs10881479 1 104357400 [A/C] rs11185202 1 104375470 [T/C] rs1930199 1 104383975 [A/G] rs1930192 1 104408821 [A/C] rs11185316 1 104418619 [T/G] rs7531107 1 104436329 [T/C] rs1465132 1 104458885 [T/C] rs17015789 1 104469208 [A/G] rs1475190 1 104470622 [T/C] rs12731458 1 104480469 [T/G] rs3849298 1 104483838 [T/C] exm2265033 1 104484650 [A/G] rs4434842 1 104492118 [T/G] rs1576516 1 104498943 [T/C] rs11185345 1 104502333 [T/C] rs6694128 1 104505231 [A/G] rs12725332 1 104509012 [A/G] rs2208963 1 104529736 [T/G] rs1590902 1 104554482 [A/G] exm2264881 1 104561488 [A/G] rs12759387 1 104573697 [A/G] rs9435629 1 104576359 [T/C] rs7552098 1 104576954 [A/G] rs12736718 1 104591008 [A/C] rs3934285 1 104598941 [A/G] rs11185369 1 104603845 [A/G] rs4847155 1 104611637 [A/G] rs17018324 1 104631711 [A/G] rs932921 1 104634514 [T/C] rs1330401 1 104640211 [A/G] rs11185384 1 104690071 [T/C] rs11577888 1 104696000 [A/G] rs17020664 1 104727130 [A/G] exm-rs12407548 1 104731827 [A/G] rs7527726 1 104736011 [A/C] exm2249477 1 104736156 [A/C] rs11185392 1 104751861 [A/C] rs11185393 1 104752001 [A/C] rs1928327 1 104770475 [A/G] rs2317080 1 104789235 [A/G] rs11185408 1 104792257 [A/G] rs6586465 1 104800547 [T/G] rs1497659 1 104807341 [T/C] rs7526560 1 104818575 [T/C] rs12035919 1 104851938 [T/C] rs12079175 1 104857913 [T/C] rs17021310 1 104858324 [T/C] rs2317259 1 104860634 [T/G] rs6700638 1 104872140 [T/G] rs6664343 1 104886613 [T/G] rs11811323 1 104886713 [A/G] rs10785866 1 104887259 [A/G] rs9325372 1 104889158 [A/G] rs17021432 1 104890559 [T/C] rs17021444 1 104893852 [T/C] rs4409662 1 104896161 [A/G] rs11185445 1 104898703 [A/G] rs12064032 1 104902248 [T/G] rs12723426 1 104907462 [T/C] rs12070824 1 104909552 [A/C] rs315154 1 104911326 [T/G] rs12057598 1 104930486 [T/C] rs10881154 1 104945065 [A/G] rs1448396 1 104957563 [A/G] rs12757818 1 104959857 [T/C] rs11184168 1 104974603 [A/G] rs2594664 1 104975728 [T/C] rs11184169 1 104978179 [T/C] rs10881158 1 104981506 [A/G] rs12041707 1 104989780 [A/G] rs1597178 1 104997184 [A/G] rs7411648 1 104997471 [T/C] rs9724701 1 105011378 [A/G] rs316977 1 105040651 [A/G] rs11184189 1 105041495 [T/C] rs373489 1 105057555 [T/C] rs316973 1 105057760 [T/C] rs316970 1 105061457 [A/G] rs316960 1 105067105 [A/G] rs2034388 1 105077882 [A/G] rs6695172 1 105086051 [T/C] rs12026360 1 105088785 [A/G] rs11184204 1 105099912 [T/G] rs1597181 1 105111413 [A/G] rs1118861 1 105128348 [A/C] rs12568560 1 105140299 [A/G] rs4847178 1 105144179 [T/C] rs12404332 1 105175991 [A/G] rs7537242 1 105181816 [A/C] rs12036108 1 105184308 [A/G] rs958515 1 105190881 [A/G] rs11184244 1 105199870 [T/C] rs7532749 1 105219763 [T/G] rs17021840 1 105227000 [A/G] rs7543757 1 105227914 [T/C] rs11184268 1 105246855 [T/C] rs6676838 1 105254006 [T/C] rs4272631 1 105254921 [A/G] rs12037801 1 105256299 [A/G] rs1904982 1 105259884 [A/G] rs12042705 1 105274807 [T/G] rs5000688 1 105286219 [T/C] rs2317613 1 105286754 [A/G] rs11579151 1 105292212 [T/C] rs10399652 1 105294293 [T/G] rs4539145 1 105300481 [A/G] rs4620554 1 105306516 [T/C] rs17015111 1 105325570 [T/C] rs4483421 1 105341180 [A/G] exm2259670 1 105347101 [A/G] rs6583061 1 105365300 [T/G] rs11802067 1 105374759 [A/G] rs9803714 1 105395113 [A/G] rs12741933 1 105424848 [A/G] rs7542735 1 105429577 [A/G] rs2122688 1 105447842 [A/G] exm2264882 1 105447979 [A/G] rs12126615 1 105448030 [A/C] rs6657845 1 105484805 [A/G] rs17015278 1 105486240 [A/G] rs2167300 1 105504651 [A/G] rs1451055 1 105516008 [T/C] rs896199 1 105518136 [A/G] rs12718026 1 105535421 [A/G] rs6699420 1 105547584 [A/G] rs3007632 1 105569132 [A/G] rs10881240 1 105588516 [T/C] rs6694548 1 105637914 [T/C] rs12030832 1 105643103 [A/G] rs12030805 1 105645248 [T/G] rs4847087 1 105647075 [A/G] rs11184443 1 105666096 [T/C] rs2820355 1 105673424 [T/C] rs4847097 1 105674169 [T/C] rs12022901 1 105674386 [T/C] rs6687976 1 105674536 [T/G] rs4421638 1 105681907 [T/C] rs6682236 1 105697723 [A/G] rs5027215 1 105698163 [T/C] rs4325188 1 105700935 [A/G] rs4847034 1 105717631 [A/G] rs6676097 1 105720186 [T/C] rs4520462 1 105724511 [T/G] rs6667576 1 105725458 [T/C] rs11184462 1 105728264 [T/C] rs11184474 1 105741329 [T/C] rs4240951 1 105743667 [T/C] rs12565217 1 105782314 [A/G] rs2809325 1 105799204 [A/G] rs2809312 1 105802587 [A/C] rs2842217 1 105805227 [T/G] rs12096770 1 105817094 [T/C] rs2653976 1 105825561 [A/C] rs7544681 1 105831228 [A/C] rs11184521 1 105846616 [T/G] rs2491642 1 105856143 [A/G] rs2491615 1 105868193 [T/G] kgp6417835 1 105868548 [T/C] rs7545222 1 105938823 [T/C] rs2048840 1 105943783 [A/G] rs12026105 1 105953996 [A/G] rs4356105 1 105954220 [T/G] rs1913978 1 105960628 [A/G] rs12749064 1 105984113 [T/C] rs2502904 1 105995890 [T/C] rs12143797 1 106005333 [A/G] rs12023475 1 106006480 [A/G] rs2501603 1 106007141 [A/G] rs2502869 1 106009370 [T/C] rs1516161 1 106011788 [T/C] rs7415139 1 106026464 [T/C] rs1524108 1 106027747 [T/C] rs11184581 1 106037417 [A/G] rs6695016 1 106040066 [T/C] rs2255422 1 106052011 [T/C] rs11184596 1 106057617 [T/C] rs12044588 1 106061874 [T/C] rs34761229 1 106085976 [T/C] rs2341709 1 106089142 [A/G] rs777082 1 106100248 [T/G] rs1710746 1 106102016 [A/G] rs6421299 1 106123365 [A/G] rs7539636 1 106128123 [T/C] rs12024670 1 106130218 [A/C] rs7512214 1 106144662 [T/C] rs12563805 1 106152813 [A/G] rs7550122 1 106164864 [A/G] rs12743318 1 106195966 [T/C] rs11184668 1 106210496 [A/C] rs790995 1 106228100 [A/G] rs12131617 1 106243672 [A/G] rs790970 1 106249145 [A/C] rs791007 1 106279726 [T/C] rs791004 1 106286316 [T/C] rs1856784 1 106298276 [T/C] rs791001 1 106303166 [A/G] rs1528685 1 106306104 [T/C] rs1163530 1 106314780 [A/G] rs1163482 1 106360040 [A/C] rs12033818 1 106368717 [A/G] rs17426528 1 106394977 [A/G] rs12028453 1 106405040 [A/C] rs790615 1 106412429 [A/G] rs17467366 1 106436919 [A/G] rs182768 1 106464966 [T/C] rs329095 1 106474028 [A/G] rs11184717 1 106477681 [A/C] kgp11366829 1 106479772 [A/C] rs7536668 1 106529404 [A/G] rs11184726 1 106540583 [T/G] rs12404525 1 106568613 [T/C] rs12130096 1 106578086 [A/G] rs12090319 1 106595812 [A/G] rs11184747 1 106617673 [A/G] rs12411062 1 106624365 [A/C] rs6700635 1 106639555 [T/G] rs587675 1 106650268 [A/C] rs12035891 1 106655045 [A/C] rs11590544 1 106678806 [A/G] rs17016826 1 106687949 [A/C] rs12026453 1 106695375 [A/G] rs7528765 1 106721791 [T/G] rs12023696 1 106752234 [A/G] exm2249483 1 106774642 [A/G] rs9435409 1 106781612 [T/C] rs4503378 1 106787317 [T/C] rs12568304 1 106792422 [A/G] rs12090269 1 106799250 [A/G] rs12046841 1 106807178 [A/G] rs7533503 1 106807983 [T/C] rs7519669 1 106810917 [A/G] rs1537531 1 106815064 [A/G] rs1360707 1 106824204 [A/G] rs11184840 1 106834169 [A/G] rs6694017 1 106843482 [T/C] rs1928718 1 106848878 [T/C] rs11184847 1 106849846 [A/G] rs12734803 1 106870121 [A/G] rs6670501 1 106881800 [A/G] rs11184867 1 106885146 [A/G] rs11184870 1 106887181 [T/C] rs4915122 1 106896377 [A/G] rs7552126 1 106897428 [A/G] rs6659299 1 106901931 [T/C] rs17017008 1 106933123 [A/G] rs11184894 1 106945362 [A/G] rs12091443 1 106962010 [T/C] rs2182150 1 106967482 [A/G] rs7514699 1 106972853 [T/C] rs10158153 1 106979036 [T/C] rs7417032 1 106995427 [A/G] rs5008684 1 107045474 [T/C] rs726669 1 107053627 [T/C] rs10494043 1 107055711 [T/C] rs1925427 1 107076801 [T/C] rs17434983 1 107090200 [T/G] rs12567271 1 107107254 [A/G] rs4601615 1 107107290 [A/G] rs4915129 1 107113504 [T/C] rs7530540 1 107116802 [T/G] rs4545364 1 107125001 [T/C] rs11184938 1 107157877 [T/C] rs6697704 1 107162694 [T/C] exm2268922 1 107163979 [T/C] rs17017331 1 107175696 [T/G] rs12023595 1 107180296 [A/C] rs12137532 1 107180825 [A/C] rs10494048 1 107195059 [T/G] rs7555950 1 107205384 [T/C] rs12030878 1 107218775 [T/C] rs7545951 1 107218922 [A/G] rs10881442 1 107219644 [T/C] exm2264884 1 107220341 [A/G] rs4336881 1 107232816 [A/C] rs1533670 1 107265058 [A/G] rs12085613 1 107294677 [T/C] rs7552695 1 107294919 [A/G] rs12133448 1 107298541 [A/G] rs10430083 1 107316651 [T/C] rs12097821 1 107336301 [T/G] rs6671394 1 107343141 [A/G] rs17017805 1 107361077 [A/G] rs12080495 1 107376140 [T/G] rs6678521 1 107387839 [T/C] rs12128098 1 107418424 [A/G] rs12086730 1 107420023 [A/C] rs1519878 1 107431974 [A/G] exm-rs12726652 1 107432576 [A/G] rs9651163 1 107440872 [T/C] rs12406116 1 107444101 [T/C] rs6677003 1 107448618 [A/C] rs4914934 1 107450890 [T/G] rs4304614 1 107455290 [A/G] rs12125971 1 107463643 [T/C] rs11185019 1 107481837 [T/C] rs9435418 1 107484628 [A/G] rs4641328 1 107494264 [T/G] rs9435334 1 107506014 [T/C] rs17443102 1 107516208 [A/G] rs9435337 1 107525991 [T/C] rs9435429 1 107526857 [A/G] rs12093106 1 107528432 [A/G] rs17496332 1 107546375 [A/G] rs6685716 1 107553330 [T/G] rs12032059 1 107558304 [A/G] rs3108680 1 107572997 [T/C] 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 rs1730866 1 107604176 [A/C] rs6668299 1 107625615 [T/C] rs1762495 1 107634116 [T/C] rs1762506 1 107656356 [T/C] rs17018425 1 107657674 [T/C] rs1335051 1 107658862 [A/C] rs6583007 1 107676684 [T/C] rs17018464 1 107688972 [T/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent exm79087 1 107691418 [T/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 EXON Missense_P68L,Missense_P68L,Missense_P68L rs17505643 1 107697660 [T/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs12743478 1 107701106 [T/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs7513206 1 107704952 [A/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs7553752 1 107706141 [T/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs4287207 1 107714954 [T/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent exm2263862 1 107725743 [A/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs10881456 1 107726492 [T/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs6671081 1 107809683 [A/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs4244126 1 107816751 [A/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs12133394 1 107817550 [T/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs7517024 1 107823943 [T/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs3123376 1 107825866 [A/G] 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 rs11185082 1 107842708 [A/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs10494068 1 107844510 [A/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs12566028 1 107848612 [A/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs7411507 1 107865978 [A/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs11185090 1 107868724 [T/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs6583021 1 107872446 [A/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs7555412 1 107872936 [A/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs12066815 1 107883043 [A/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs7555385 1 107889648 [T/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs17463719 1 107927932 [T/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs6681988 1 107930365 [T/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 rs2218404 1 107952605 [T/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent variant.5284 1 107963766 [A/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs11185112 1 107964274 [T/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs583169 1 107966962 [T/C] 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 rs1444038 1 107981316 [A/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs11185115 1 107982992 [A/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs670053 1 107988218 [T/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs640554 1 107990065 [A/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs7522375 1 108014380 [T/C] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs3813218 1 108016292 [T/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs512719 1 108020853 [A/G] NM_001113228,NM_001113226,NM_014917 NTNG1,NTNG1,NTNG1 Silent,Silent,Silent rs597332 1 108024868 [T/C] rs17019224 1 108031468 [A/G] rs12756322 1 108037997 [T/G] rs12089394 1 108045438 [A/G] rs12092544 1 108055112 [T/C] rs11185129 1 108070435 [T/C] rs12739227 1 108077102 [T/C] rs666003 1 108079945 [A/G] rs531284 1 108086798 [A/G] exm2264886 1 108088171 [A/G] rs10785826 1 108090429 [T/C] rs10881471 1 108095617 [T/G] rs8676 1 108113865 [A/G] NM_001079874,NM_006113 VAV3,VAV3 EXON Silent,Silent rs7549255 1 108116169 [A/G] NM_001079874,NM_006113 VAV3,VAV3 Silent,Silent exm79150 1 108116715 [A/G] NM_001079874,NM_006113 VAV3,VAV3 EXON Missense_T259I,Missense_T819I indel.5285 1 108116736 [D/I] NM_001079874,NM_006113 VAV3,VAV3 EXON rs1328199 1 108127895 [T/C] NM_001079874,NM_006113 VAV3,VAV3 Silent,Silent rs7554525 1 108135527 [T/C] NM_001079874,NM_006113 VAV3,VAV3 Silent,Silent exm1690772 1 108138962 [T/C] NM_001079874,NM_006113 VAV3,VAV3 EXON Missense_E181G,Missense_E741G rs6691069 1 108139636 [A/G] NM_001079874,NM_006113 VAV3,VAV3 Silent,Silent rs3828085 1 108143671 [A/G] NM_001079874,NM_006113 VAV3,VAV3 Silent,Silent 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 rs6680257 1 108169834 [A/C] NM_001079874,NM_006113 VAV3,VAV3 Silent,Silent rs6693140 1 108181947 [T/C] NM_001079874,NM_006113 VAV3,VAV3 Silent,Silent 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 rs17019602 1 108188858 [A/G] NM_001079874,NM_006113 VAV3,VAV3 Silent,Silent rs12127467 1 108190253 [A/C] NM_001079874,NM_006113 VAV3,VAV3 Silent,Silent rs7543435 1 108202710 [A/G] NM_001079874,NM_006113 VAV3,VAV3 Silent,Silent rs4378232 1 108208282 [T/C] NM_001079874,NM_006113 VAV3,VAV3 Silent,Silent rs4639792 1 108212980 [T/C] NM_001079874,NM_006113 VAV3,VAV3 Silent,Silent rs6680436 1 108214333 [T/C] NM_001079874,NM_006113 VAV3,VAV3 Silent,Silent rs2494057 1 108238093 [T/C] NM_006113 VAV3 Silent rs12043814 1 108243851 [T/C] NM_006113 VAV3 Silent rs2494070 1 108247048 [A/G] NM_006113 VAV3 Silent rs12403629 1 108251323 [T/C] NM_006113 VAV3 Silent rs17019810 1 108268801 [T/C] NM_006113 VAV3 Silent rs7519428 1 108281720 [A/G] NM_006113 VAV3 Silent rs6662917 1 108286191 [T/G] NM_006113 VAV3 Silent rs11185172 1 108286632 [T/C] NM_006113 VAV3 Silent rs6583045 1 108286971 [A/G] NM_006113 VAV3 Silent rs17019880 1 108288220 [T/C] NM_006113 VAV3 Silent exm79200 1 108291695 [A/G] NM_006113 VAV3 EXON Missense_S466F variant.5287 1 108293800 [A/G] NM_006113 VAV3 EXON Nonsense_R400X exm79215 1 108298086 [T/C] NM_006113 VAV3 EXON Missense_R379H exm79217 1 108299923 [A/G] NM_006113 VAV3 EXON Missense_T349I rs12142335 1 108302922 [A/G] NM_006113 VAV3 Silent variant.5288 1 108303404 [A/G] NM_006113 VAV3 Silent rs4415601 1 108304878 [T/G] NM_006113 VAV3 Silent 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 rs7523266 1 108310224 [T/C] NM_006113 VAV3 Silent exm79230 1 108313258 [T/C] NM_006113 VAV3 EXON Synonymous_K216K variant.5291 1 108315356 [T/C] NM_006113 VAV3 Silent exm79235 1 108315357 [A/G] NM_006113 VAV3 EXON Synonymous_P185P indel.5293 1 108315416 [D/I] NM_006113 VAV3 EXON rs4914959 1 108319079 [A/G] NM_006113 VAV3 Silent exm79239 1 108319884 [T/C] NM_006113 VAV3 EXON Missense_D139N exm79243 1 108322065 [A/G] NM_006113 VAV3 EXON Missense_T124I rs17020104 1 108353670 [T/C] NM_006113 VAV3 Silent rs17485868 1 108356000 [A/G] NM_006113 VAV3 Silent rs4915077 1 108366016 [T/C] NM_006113 VAV3 Silent rs1380445 1 108386404 [T/G] NM_006113 VAV3 Silent rs6583052 1 108393409 [A/C] NM_006113 VAV3 Silent rs13373947 1 108398394 [A/G] NM_006113 VAV3 Silent rs1999487 1 108408983 [T/C] NM_006113 VAV3 Silent variant.5294 1 108417523 [T/C] NM_006113 VAV3 EXON Synonymous_K107K exm79252 1 108417605 [A/G] NM_006113 VAV3 EXON Missense_T80M rs345292 1 108425055 [A/G] NM_006113 VAV3 Silent rs11185201 1 108430942 [T/C] NM_006113 VAV3 Silent rs17020294 1 108441642 [T/C] NM_006113 VAV3 Silent rs10494083 1 108448202 [T/C] NM_006113 VAV3 Silent rs7548905 1 108459260 [A/C] NM_006113 VAV3 Silent rs345314 1 108462844 [T/C] NM_006113 VAV3 Silent rs345306 1 108467386 [T/G] NM_006113 VAV3 Silent rs345271 1 108498145 [T/C] NM_006113 VAV3 Silent rs6679376 1 108499929 [A/G] NM_006113 VAV3 Silent 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 rs345261 1 108514072 [T/C] NR_046653 VAV3-AS1 Silent rs2035014 1 108521703 [A/G] NR_046653 VAV3-AS1 Silent exm2268923 1 108523670 [T/G] NR_046653 VAV3-AS1 Silent rs2000259 1 108534241 [A/C] NR_046653 VAV3-AS1 Silent rs1777467 1 108554161 [A/G] rs1781050 1 108557705 [T/C] rs1781067 1 108568011 [A/G] rs1418992 1 108568620 [T/C] rs4915093 1 108572106 [A/G] rs9803640 1 108576267 [A/C] rs1777458 1 108585993 [T/G] rs1618973 1 108586767 [T/C] rs17020774 1 108594594 [T/C] rs2995706 1 108607571 [T/C] rs7531042 1 108609194 [T/C] rs1343192 1 108613888 [T/C] rs1781064 1 108615524 [A/G] rs12034547 1 108635284 [T/G] rs2336126 1 108640905 [A/G] rs4083872 1 108646557 [T/G] rs12742113 1 108652454 [T/C] rs501273 1 108654328 [A/C] rs614499 1 108656238 [A/C] rs515194 1 108657934 [A/G] rs1660419 1 108661636 [A/C] rs1777450 1 108663295 [T/C] rs11185274 1 108665402 [T/C] indel.5295 1 108679297 [D/I] NM_013386,NM_213651 SLC25A24,SLC25A24 EXON variant.5296 1 108679412 [A/G] NM_013386,NM_213651 SLC25A24,SLC25A24 EXON Nonsense_R433X,Nonsense_R414X variant.5297 1 108679415 [A/G] NM_013386,NM_213651 SLC25A24,SLC25A24 EXON Nonsense_R432X,Nonsense_R413X rs17513833 1 108680234 [T/C] NM_013386,NM_213651 SLC25A24,SLC25A24 Silent,Silent exm2276848 1 108681756 [A/G] NM_013386,NM_213651 SLC25A24,SLC25A24 EXON Synonymous_C391C,Synonymous_C372C exm79278 1 108681795 [T/G] NM_013386,NM_213651 SLC25A24,SLC25A24 EXON Missense_K378N,Missense_K359N 1KG_1_108681808 1 108681808 [D/I] NM_013386,NM_213651 SLC25A24,SLC25A24 EXON exm79280 1 108681808 [T/C] NM_013386,NM_213651 SLC25A24,SLC25A24 EXON Missense_D374G,Missense_D355G exm79283 1 108690906 [T/C] NM_013386,NM_213651 SLC25A24,SLC25A24 EXON Missense_M309V,Missense_M290V exm79286 1 108690963 [T/C] NM_013386,NM_213651 SLC25A24,SLC25A24 EXON Missense_E290K,Missense_E271K rs6703140 1 108697224 [T/C] NM_013386,NM_213651 SLC25A24,SLC25A24 Silent,Silent newrs147531188 1 108697712 [A/G] NM_013386,NM_213651 SLC25A24,SLC25A24 EXON Nonsense_R239X,Nonsense_R220X rs829001 1 108698658 [A/G] NM_013386,NM_213651 SLC25A24,SLC25A24 Silent,Silent exm79296 1 108700128 [A/G] NM_013386,NM_213651 SLC25A24,SLC25A24 EXON Nonsense_R209X,Nonsense_R190X indel.5301 1 108700183 [I/D] NM_013386,NM_213651 SLC25A24,SLC25A24 EXON exm79302 1 108703824 [A/G] NM_013386,NM_213651 SLC25A24,SLC25A24 EXON Missense_R164C,Missense_R145C exm79306 1 108703852 [A/C] NM_013386,NM_213651 SLC25A24,SLC25A24 EXON Missense_N154K,Missense_N135K rs829004 1 108711268 [T/C] NM_013386,NM_213651 SLC25A24,SLC25A24 Silent,Silent newrs143444253 1 108724588 [A/G] NM_013386,NM_213651 SLC25A24,SLC25A24 EXON Nonsense_Q125X,Nonsense_Q106X indel.5304 1 108724605 [D/I] NM_013386,NM_213651 SLC25A24,SLC25A24 EXON rs597999 1 108726389 [T/C] NM_013386,NM_213651 SLC25A24,SLC25A24 Silent,Silent exm2268737 1 108737586 [T/C] NM_013386 SLC25A24 Silent rs594397 1 108741065 [T/C] NM_013386 SLC25A24 Silent rs828999 1 108744934 [A/G] rs7538977 1 108753833 [A/G] rs7418288 1 108754099 [A/G] rs6583070 1 108756690 [A/G] exm79346 1 108766348 [A/C] NM_001143989 NBPF4 EXON Missense_R632S rs2336016 1 108854166 [A/G] rs10881518 1 108857903 [T/C] rs6670555 1 108860573 [T/G] rs1417300 1 108871245 [T/C] rs11185318 1 108876270 [T/C] rs2275563 1 108877608 [T/G] kgp2153968 1 108878713 [T/C] rs12408504 1 109023455 [T/C] rs7512643 1 109042271 [A/G] rs6604133 1 109074350 [A/G] rs12039852 1 109075236 [A/G] rs1566254 1 109093791 [T/G] rs2798184 1 109096332 [T/C] exm79423 1 109103124 [A/G] NM_001010883 FAM102B EXON Missense_N25S rs6683552 1 109113463 [T/C] NM_001010883 FAM102B Silent rs2804259 1 109126504 [T/C] NM_001010883 FAM102B Silent rs17025159 1 109154667 [T/C] NM_001010883 FAM102B Silent 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 rs10494093 1 109187595 [T/G] rs2358530 1 109188382 [A/G] 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 variant.5309 1 109193012 [T/C] NM_144584,NM_001102592 HENMT1,HENMT1 Silent,Silent variant.5310 1 109193675 [T/C] NM_144584,NM_001102592 HENMT1,HENMT1 EXON Nonsense_W185X,Nonsense_W185X 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 variant.5311 1 109198206 [A/G] NM_144584,NM_001102592 HENMT1,HENMT1 Silent,Silent variant.5312 1 109200068 [A/C] NM_144584,NM_001102592 HENMT1,HENMT1 Silent,Silent exm79510 1 109200108 [T/C] NM_144584,NM_001102592 HENMT1,HENMT1 EXON Missense_V39I,Missense_V39I variant.5314 1 109200147 [A/G] NM_144584,NM_001102592 HENMT1,HENMT1 EXON Nonsense_Q26X,Nonsense_Q26X exm79514 1 109200189 [T/C] NM_144584,NM_001102592 HENMT1,HENMT1 EXON Missense_V12I,Missense_V12I variant.5315 1 109202481 [A/G] NM_144584,NM_001102592 HENMT1,HENMT1 Silent,Silent rs6665861 1 109208995 [T/C] rs2297563 1 109241669 [A/G] NM_018061,NR_037185 PRPF38B,PRPF38B Silent,Silent exm79551 1 109242056 [A/G] NM_018061,NR_037185 PRPF38B,PRPF38B EXON Missense_R352K,Silent indel.5318 1 109242141 [I/D] NM_018061,NR_037185 PRPF38B,PRPF38B EXON 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 indel.5320 1 109242455 [I/D] NM_018061,NR_037185 PRPF38B,PRPF38B EXON exm79570 1 109242500 [A/G] NM_018061,NR_037185 PRPF38B,PRPF38B EXON Missense_R500H,Silent variant.5321 1 109242574 [T/C] NM_018061,NR_037185 PRPF38B,PRPF38B EXON Nonsense_R525X,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 rs1333124 1 109258150 [T/C] NM_001144937 FNDC7 Silent 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 rs2184083 1 109261971 [A/G] NM_001144937 FNDC7 Silent exm79606 1 109265029 [T/G] NM_001144937 FNDC7 EXON Missense_R224L exm79611 1 109265134 [T/G] NM_001144937 FNDC7 EXON Missense_G259V rs2026485 1 109266523 [A/G] NM_001144937 FNDC7 Silent exm79617 1 109268435 [C/G] NM_001144937 FNDC7 EXON Missense_W307S exm79618 1 109268441 [A/G] NM_001144937 FNDC7 EXON Missense_S309N exm79622 1 109268608 [A/G] NM_001144937 FNDC7 EXON Missense_I365V exm79624 1 109268615 [A/G] NM_001144937 FNDC7 EXON Missense_N367S variant.5325 1 109268626 [A/G] NM_001144937 FNDC7 EXON Missense_A371T rs10494096 1 109270402 [A/G] NM_001144937 FNDC7 Silent 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 rs4970810 1 109273610 [A/G] NM_001144937 FNDC7 Silent 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 rs1124427 1 109289353 [C/G] NM_007269 STXBP3 EXON Silent indel.5332 1 109299389 [D/I] NM_007269 STXBP3 rs1767017 1 109308814 [A/G] NM_007269 STXBP3 Silent exm79713 1 109315291 [T/A] NM_007269 STXBP3 EXON Missense_Y148F newrs148829120 1 109315442 [A/G] NM_007269 STXBP3 Silent variant.5334 1 109325087 [T/G] NM_007269 STXBP3 EXON Nonsense_E285X 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 rs1149152 1 109352915 [A/G] rs12140541 1 109356216 [T/C] newrs149826017 1 109358861 [A/G] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Nonsense_Q815X exm79765 1 109358897 [C/G] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_L803V rs1277213 1 109359502 [A/G] NR_049760,NM_152763 AKNAD1,AKNAD1 Silent,Silent indel.5339 1 109359697 [I/D] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON exm1690992 1 109359702 [T/C] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_D783N exm79771 1 109359765 [T/C] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_D762N rs1333130 1 109363232 [T/C] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Synonymous_K728K exm79785 1 109363242 [T/A] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Nonsense_L725X exm79790 1 109365991 [T/C] NR_049760,NM_152763 AKNAD1,AKNAD1 Silent,Silent indel.5343 1 109366010 [I/D] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON indel.5344 1 109366042 [D/I] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON rs10857968 1 109367944 [A/G] NR_049760,NM_152763 AKNAD1,AKNAD1 Silent,Silent variant.5346 1 109369841 [T/G] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Nonsense_S641X rs7551421 1 109369915 [T/G] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_N616K exm79801 1 109369915 [T/G] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_N616K exm79806 1 109373214 [A/G] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_P602L exm79814 1 109377070 [A/C] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_G582V exm2273670 1 109377140 [A/C] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_G559C exm79830 1 109377642 [A/G] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Nonsense_R525X exm79831 1 109377647 [T/C] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_G523E variant.5350 1 109385891 [T/G] NR_049760,NM_152763 AKNAD1,AKNAD1 Silent,Silent rs6704266 1 109386174 [A/G] NR_049760,NM_152763 AKNAD1,AKNAD1 Silent,Silent rs7542337 1 109389021 [T/C] NR_049760,NM_152763 AKNAD1,AKNAD1 Silent,Silent rs1149144 1 109391027 [T/C] NR_049760,NM_152763 AKNAD1,AKNAD1 Silent,Silent variant.5351 1 109391372 [A/G] NR_049760,NM_152763 AKNAD1,AKNAD1 Silent,Silent exm79849 1 109391560 [G/C] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_E386Q exm79850 1 109391576 [T/C] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_M380I indel.5353 1 109391657 [D/I] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON exm79854 1 109391658 [A/G] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_S353F exm79855 1 109391662 [G/C] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_L352V exm79859 1 109394326 [G/C] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_G321R exm79863 1 109394370 [A/G] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_T306M exm1691027 1 109394401 [T/G] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_P296T exm79866 1 109394412 [A/G] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_S292L exm79869 1 109394524 [A/G] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_H255Y exm2249491 1 109394540 [A/G] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Synonymous_Y249Y exm79875 1 109394593 [A/C] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_S232A exm79876 1 109394609 [T/A] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_K226N exm79884 1 109394872 [G/C] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_A139P exm79887 1 109394964 [T/C] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_S108N exm79888 1 109394976 [A/G] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_A104V exm2273671 1 109394985 [T/C] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_E101G exm79891 1 109395031 [T/C] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_E86K exm79893 1 109395105 [T/C] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_S61N exm79896 1 109395153 [T/A] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_N45I indel.5354 1 109395223 [D/I] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON exm79906 1 109395258 [T/G] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_T10K exm79908 1 109395280 [T/C] NR_049760,NM_152763 AKNAD1,AKNAD1 EXON Silent,Missense_E3K rs12405585 1 109397229 [A/C] NR_049760,NM_152763 AKNAD1,AKNAD1 Silent,Silent newrs9727773 1 109439712 [T/C] NM_013296 GPSM2 Silent exm79917 1 109440129 [T/G] NM_013296 GPSM2 EXON Missense_Q98H exm79920 1 109440215 [A/G] NM_013296 GPSM2 EXON Missense_R127Q indel.5360 1 109440615 [D/I] NM_013296 GPSM2 EXON 1KG_1_109440678 1 109440678 [I/D] NM_013296 GPSM2 EXON exm79927 1 109441314 [A/G] NM_013296 GPSM2 EXON Missense_R203H exm79930 1 109441516 [A/G] NM_013296 GPSM2 EXON Missense_K233E indel.5361 1 109441560 [D/I] NM_013296 GPSM2 EXON exm79939 1 109444447 [A/G] NM_013296 GPSM2 EXON Missense_R278Q exm79944 1 109446750 [A/G] NM_013296 GPSM2 EXON Missense_G356R variant.5363 1 109446777 [T/C] NM_013296 GPSM2 EXON Nonsense_R365X exm79949 1 109456983 [T/C] NM_013296 GPSM2 EXON Missense_R406W indel.5364 1 109461306 [I/D] NM_013296 GPSM2 EXON exm79956 1 109461329 [A/G] NM_013296 GPSM2 EXON Missense_K453R exm79957 1 109461341 [T/C] NM_013296 GPSM2 EXON Missense_T457M variant.5365 1 109461391 [T/C] NM_013296 GPSM2 EXON Nonsense_R474X 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 variant.5367 1 109465090 [T/C] NM_013296 GPSM2 EXON Nonsense_R498X exm79969 1 109465168 [A/T] NM_013296 GPSM2 EXON Missense_S524T variant.5368 1 109466620 [A/G] NM_013296 GPSM2 Silent 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 rs839860 1 109470126 [A/G] NM_013296 GPSM2 Silent exm79982 1 109472327 [T/C] NM_013296,NM_015127,NM_001048210 GPSM2,CLCC1,CLCC1 EXON Missense_S607F,Silent,Silent exm79983 1 109472378 [T/C] NM_013296,NM_015127,NM_001048210 GPSM2,CLCC1,CLCC1 EXON Missense_P624L,Silent,Silent exm1691058 1 109472416 [T/C] NM_013296,NM_015127,NM_001048210 GPSM2,CLCC1,CLCC1 EXON Missense_R637W,Silent,Silent exm2249492 1 109477313 [C/G] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Synonymous_P495P,Synonymous_P545P exm79991 1 109477313 [C/G] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Synonymous_P495P,Synonymous_P545P exm79994 1 109477348 [T/C] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Missense_A484T,Missense_A534T exm79997 1 109477392 [G/C] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Missense_S469C,Missense_S519C exm80001 1 109477429 [C/G] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Missense_E457Q,Missense_E507Q exm80002 1 109477462 [G/C] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Missense_P446A,Missense_P496A exm80004 1 109477468 [T/C] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Missense_A444T,Missense_A494T exm80005 1 109477470 [A/G] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Missense_S443L,Missense_S493L 1KG_1_109479801 1 109479801 [D/I] NM_015127,NM_001048210 CLCC1,CLCC1 EXON exm80015 1 109479829 [T/C] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Missense_G368D,Missense_G418D exm80020 1 109479953 [A/G] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Missense_R327W,Missense_R377W exm80022 1 109479959 [A/G] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Missense_R325W,Missense_R375W exm80023 1 109479977 [T/C] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Missense_E319K,Missense_E369K exm80024 1 109479978 [T/G] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Missense_S318R,Missense_S368R exm80035 1 109482355 [A/G] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Missense_I265T,Missense_I315T rs839549 1 109483767 [A/C] NM_015127,NM_001048210 CLCC1,CLCC1 Silent,Silent variant.5373 1 109486139 [A/G] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Synonymous_S170S,Synonymous_S220S exm80053 1 109486156 [A/G] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Missense_R165C,Missense_R215C exm80059 1 109486213 [T/C] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Missense_V146M,Missense_V196M indel.5374 1 109486492 [D/I] NM_015127,NM_001048210 CLCC1,CLCC1 EXON exm80064 1 109486541 [T/G] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Silent,Missense_I160L exm80065 1 109486553 [T/C] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Silent,Missense_S156G exm80077 1 109492528 [T/A] NM_015127,NM_001048210 CLCC1,CLCC1 EXON Missense_S49T,Missense_S49T indel.5380 1 109492972 [D/I] NM_015127,NM_001048210 CLCC1,CLCC1 EXON rs517013 1 109500439 [A/G] NM_015127,NM_001048210 CLCC1,CLCC1 Silent,Silent rs550743 1 109505689 [T/C] NM_015127,NM_001048210 CLCC1,CLCC1 Silent,Silent rs570812 1 109515735 [A/G] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 Silent,Silent,Silent 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 variant.5383 1 109553539 [A/G] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 EXON Nonsense_R377X,Nonsense_R384X,Missense_R377C variant.5384 1 109554187 [A/G] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 EXON Nonsense_R161X,Nonsense_R168X,Nonsense_R161X 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 rs11102813 1 109563656 [A/C] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 Silent,Silent,Silent rs11485106 1 109569132 [A/G] NM_014969,NM_001142550,NM_001142551 WDR47,WDR47,WDR47 Silent,Silent,Silent rs10466 1 109605378 [A/G] variant.5385 1 109607288 [A/G] NM_005645 TAF13 EXON Nonsense_Q78X exm80161 1 109608833 [T/A] NM_005645 TAF13 EXON Missense_F43Y rs28634276 1 109611326 [T/G] NM_005645 TAF13 Silent indel.5387 1 109617617 [I/D] NM_005645 TAF13 EXON rs521734 1 109633256 [C/G] rs616378 1 109634341 [T/C] NM_020141 TMEM167B Silent variant.5388 1 109648682 [A/G] NM_001122961 C1orf194 EXON Nonsense_R148X exm80195 1 109649162 [A/G] NM_001122961 C1orf194 EXON Missense_S133F var_1_109649633 1 109649634 [D/I] NM_001122961 C1orf194 EXON exm80201 1 109649656 [T/G] NM_001122961 C1orf194 EXON Missense_N84T exm1691155 1 109649719 [T/C] NM_001122961 C1orf194 EXON Missense_R63H newrs111236143 1 109650542 [A/C] NM_001122961 C1orf194 Silent 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_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 EXON Missense_I22K,Missense_I22K,Silent rs10494103 1 109674281 [T/C] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent rs587727 1 109685273 [A/G] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent rs565751 1 109696056 [A/G] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent exm80230 1 109704525 [T/C] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 EXON Missense_H55Y,Missense_H55Y,Silent exm80236 1 109704618 [A/G] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 EXON Missense_I86V,Missense_I86V,Silent exm80238 1 109707121 [G/C] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 EXON Missense_S92C,Missense_S92C,Silent exm1691168 1 109707183 [A/G] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 EXON Missense_E113K,Missense_E113K,Silent exm80244 1 109707214 [A/G] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 EXON Missense_R123Q,Missense_R123Q,Silent exm80249 1 109707313 [T/C] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 EXON Missense_S156L,Missense_S156L,Silent rs17014495 1 109714403 [A/C] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent exm80251 1 109714505 [A/G] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 EXON Missense_R162Q,Missense_R162Q,Silent exm80256 1 109714635 [T/C] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 EXON Synonymous_F205F,Synonymous_F205F,Silent exm80256-other 1 109714635 [T/C] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 EXON Synonymous_F205F,Synonymous_F205F,Silent exm80265 1 109716352 [T/C] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 EXON Missense_T282M,Silent,Silent exm2268924 1 109723090 [T/C] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent rs2093933 1 109723188 [T/C] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent rs587036 1 109724188 [A/G] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent exm80275 1 109727733 [T/C] NM_020775,NM_001267048,NR_049773 KIAA1324,KIAA1324,KIAA1324 EXON Missense_T340M,Silent,Silent exm80282 1 109730929 [A/G] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_N391S,Missense_N304S,Silent,Silent,Missense_N41S exm80285 1 109731697 [A/G] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_R410H,Missense_R323H,Silent,Silent,Missense_R60H exm80298 1 109734046 [T/G] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_V500F,Missense_V413F,Silent,Silent,Missense_V150F variant.5400 1 109734098 [A/G] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent,Silent,Silent exm80304 1 109734349 [A/G] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_G516D,Missense_G429D,Silent,Silent,Missense_G166D exm80305 1 109734351 [A/G] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_V517M,Missense_V430M,Silent,Silent,Missense_V167M exm80308 1 109734405 [T/C] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Nonsense_Q535X,Nonsense_Q448X,Silent,Silent,Nonsense_Q185X exm80314 1 109735267 [A/G] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_Y573C,Missense_Y486C,Silent,Silent,Missense_Y223C exm80321 1 109735416 [A/C] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_T623P,Missense_T536P,Silent,Silent,Missense_T273P exm80325 1 109735481 [A/G] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Synonymous_G644G,Synonymous_G557G,Silent,Silent,Synonymous_G294G rs2359245 1 109737090 [A/G] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Synonymous_P665P,Synonymous_P578P,Silent,Silent,Synonymous_P315P exm80339 1 109740138 [T/C] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_R722W,Missense_R635W,Silent,Silent,Missense_R372W exm80349 1 109740603 [T/G] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_V769L,Missense_V682L,Silent,Silent,Missense_V419L exm80353 1 109741244 [T/C] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_R817C,Missense_R730C,Silent,Silent,Missense_R467C exm80355 1 109741274 [T/C] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_P827S,Missense_P740S,Silent,Silent,Missense_P477S exm80366 1 109742531 [A/G] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_A853T,Missense_A766T,Silent,Silent,Missense_A503T exm80367 1 109742532 [T/C] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_A853V,Missense_A766V,Silent,Silent,Missense_A503V exm80370 1 109742595 [A/G] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_G874E,Missense_G787E,Silent,Silent,Missense_G524E variant.5405 1 109742864 [A/C] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 Silent,Silent,Silent,Silent,Silent exm2230713 1 109743512 [T/C] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_F988S,Missense_F901S,Silent,Silent,Missense_F638S exm80384 1 109745618 [T/C] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Missense_L1009P,Missense_L922P,Silent,Silent,Missense_L659P rs4970827 1 109748547 [T/C] NM_020775,NM_001267048,NR_049773,NR_049774,NM_001267049 KIAA1324,KIAA1324,KIAA1324,KIAA1324,KIAA1324 EXON Silent,Silent,Silent,Silent,Silent rs604500 1 109752204 [T/C] variant.5406 1 109772066 [T/C] NM_006513 SARS EXON Nonsense_R107X 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 rs611905 1 109782037 [A/G] rs586254 1 109784781 [A/G] rs17035443 1 109788713 [A/G] 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 exm80509 1 109793973 [A/G] NM_001408 CELSR2 EXON Synonymous_S424S exm2249497 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 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 rs653635 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 rs6689614 1 109807099 [A/G] NM_001408 CELSR2 EXON Synonymous_P1771P 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 rs2281894 1 109810544 [A/C] NM_001408 CELSR2 EXON Synonymous_R2060R 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 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 rs7528419 1 109817192 [A/G] NM_001408 CELSR2 EXON Silent exm-rs12740374 1 109817590 [T/G] NM_001408 CELSR2 EXON Silent rs660240 1 109817838 [T/C] 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] rs599839 1 109822166 [A/G] exm-rs599839 1 109822166 [A/G] exm2273330 1 109822732 [A/G] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Silent,Silent,Silent exm80926 1 109822750 [A/G] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Silent,Missense_L309P,Silent exm1691392 1 109823041 [T/A] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Missense_K325N,Missense_S292C,Missense_K325N exm80928 1 109823096 [T/C] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Missense_R307Q,Synonymous_A273A,Missense_R307Q exm80931 1 109823418 [T/C] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Synonymous_V295V,Missense_A262T,Synonymous_V295V exm80933 1 109823457 [A/T] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Synonymous_R282R,Nonsense_K249X,Synonymous_R282R exm80934 1 109823458 [T/C] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Missense_R282Q,Synonymous_S248S,Missense_R282Q exm80936 1 109823488 [T/C] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Missense_G272D,Synonymous_R238R,Missense_G272D exm80940 1 109823537 [A/G] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Missense_P256S,Missense_A222V,Missense_P256S exm80941 1 109823551 [A/G] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Missense_S251L,Silent,Missense_S251L exm80967 1 109824326 [A/G] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Missense_T145M,Missense_T145M,Missense_T145M exm80969 1 109824353 [T/C] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Missense_R136Q,Missense_R136Q,Missense_R136Q exm80974 1 109824422 [T/C] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Missense_R113Q,Missense_R113Q,Missense_R113Q exm80976 1 109824440 [T/C] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Missense_R107Q,Missense_R107Q,Missense_R107Q exm80977 1 109824444 [A/G] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Missense_R106C,Missense_R106C,Missense_R106C exm80980 1 109824473 [T/C] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Missense_R96Q,Missense_R96Q,Missense_R96Q exm80986 1 109824503 [A/G] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Missense_A86V,Missense_A86V,Missense_A86V exm80990 1 109824576 [A/C] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Missense_V62L,Missense_V62L,Missense_V62L exm80996 1 109824680 [T/C] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 EXON Missense_R27H,Missense_R27H,Missense_R27H exm81000 1 109825198 [C/G] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 Silent,Silent,Silent exm81004 1 109825360 [T/C] NM_032636,NM_001005290,NM_001032291 PSRC1,PSRC1,PSRC1 Silent,Silent,Silent rs655246 1 109832283 [A/G] rs17645143 1 109835757 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL Silent,Silent exm81012 1 109837810 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_F326S,Missense_F303S exm81015 1 109837826 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R321C,Missense_R298C exm81016 1 109837853 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_H312Y,Missense_H289Y exm81020 1 109838857 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R289Q,Missense_R266Q exm81028 1 109838918 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_D269N,Missense_D246N exm81031 1 109838960 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Nonsense_R255X,Nonsense_R232X exm81042 1 109839482 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R218H,Missense_R195H exm81044 1 109839501 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_G212S,Missense_G189S exm81047 1 109839533 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R201H,Missense_R178H exm81062 1 109840043 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL Silent,Silent exm81066 1 109840098 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R126C,Silent exm81069 1 109840110 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R122C,Silent exm81071 1 109840122 [A/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_A118S,Missense_A118S exm81072 1 109840125 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R117C,Missense_R117C exm2275324 1 109840137 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Nonsense_R113X,Nonsense_R113X exm81076 1 109840169 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R102Q,Missense_R102Q exm81082 1 109840832 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_R65W,Missense_R65W exm81083 1 109840834 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_I64T,Missense_I64T exm2230720 1 109840852 [C/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_A58G,Missense_A58G rs407102 1 109846278 [T/C] NM_001010985,NM_001265613 MYBPHL,MYBPHL Silent,Silent exm81091 1 109849546 [A/G] NM_001010985,NM_001265613 MYBPHL,MYBPHL EXON Missense_A23V,Missense_A23V rs464218 1 109856306 [A/G] NM_001205228,NM_002959 SORT1,SORT1 EXON Silent,Silent exm81101 1 109859485 [T/C] NM_001205228,NM_002959 SORT1,SORT1 EXON Missense_S609N,Missense_S746N exm81105 1 109859580 [T/C] NM_001205228,NM_002959 SORT1,SORT1 EXON Synonymous_G577G,Synonymous_G714G indel.5426 1 109865570 [D/I] NM_001205228,NM_002959 SORT1,SORT1 EXON exm81112 1 109865630 [T/C] NM_001205228,NM_002959 SORT1,SORT1 EXON Missense_V513M,Missense_V650M exm81122 1 109867673 [A/G] NM_001205228,NM_002959 SORT1,SORT1 EXON Missense_T424M,Missense_T561M exm81135 1 109878893 [T/C] NM_001205228,NM_002959 SORT1,SORT1 EXON Missense_E310G,Missense_E447G exm81136 1 109878903 [C/G] NM_001205228,NM_002959 SORT1,SORT1 EXON Missense_E307Q,Missense_E444Q exm81138 1 109878920 [A/G] NM_001205228,NM_002959 SORT1,SORT1 EXON Missense_T301M,Missense_T438M rs11102972 1 109880721 [T/C] NM_001205228,NM_002959 SORT1,SORT1 Silent,Silent exm81143 1 109883391 [T/C] NM_001205228,NM_002959 SORT1,SORT1 EXON Missense_V270M,Missense_V407M exm81148 1 109883405 [A/G] NM_001205228,NM_002959 SORT1,SORT1 EXON Missense_T265M,Missense_T402M exm81154 1 109884672 [A/C] NM_001205228,NM_002959 SORT1,SORT1 EXON Missense_D221Y,Missense_D358Y exm81161 1 109888432 [T/C] NM_001205228,NM_002959 SORT1,SORT1 EXON Missense_K165E,Missense_K302E exm81167 1 109897022 [A/C] NM_001205228,NM_002959 SORT1,SORT1 EXON Missense_Q89H,Missense_Q225H exm81172 1 109897119 [T/C] NM_001205228,NM_002959 SORT1,SORT1 EXON Missense_R57H,Missense_R193H exm81178 1 109910100 [T/C] NM_001205228,NM_002959 SORT1,SORT1 EXON Silent,Missense_I124V rs12037569 1 109923677 [T/G] NM_001205228,NM_002959 SORT1,SORT1 Silent,Silent rs10858092 1 109943893 [T/C] NM_001199774,NM_002790,NM_001199773,NM_001199772 PSMA5,PSMA5,PSMA5,PSMA5 EXON Silent,Silent,Silent,Silent exm81204 1 109955749 [T/C] NM_001199774,NM_002790,NM_001199773,NM_001199772 PSMA5,PSMA5,PSMA5,PSMA5 EXON Missense_M20V,Missense_M78V,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 variant.5440 1 110038447 [T/C] NM_001134402,NM_001134400,NM_182580,NM_001134404,NM_001134403 CYB561D1,CYB561D1,CYB561D1,CYB561D1,CYB561D1 EXON Nonsense_R29X,Nonsense_R108X,Nonsense_R86X,Silent,Synonymous_P120P 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 rs3738772 1 110048436 [A/C] 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 rs6537803 1 110063540 [A/G] rs529773 1 110065906 [A/G] rs532623 1 110070554 [T/C] exm2265035 1 110078434 [A/G] exm-rs7550711 1 110082886 [T/C] NM_031936 GPR61 Silent rs12023963 1 110084827 [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 rs6537837 1 110119732 [T/C] NM_006496 GNAI3 Silent 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 variant.5446 1 110125187 [A/G] NM_006496 GNAI3 EXON Missense_K197R exm81539 1 110129420 [A/G] NM_006496 GNAI3 EXON Missense_I264V rs17024043 1 110130405 [A/G] NM_006496 GNAI3 Silent rs541320 1 110132098 [A/G] NM_006496 GNAI3 Silent exm2249509 1 110134777 [A/G] NM_006496 GNAI3 EXON Synonymous_T329T variant.5448 1 110134877 [A/G] NM_006496 GNAI3 EXON Silent rs2301230 1 110136458 [A/G] NM_006496 GNAI3 EXON Silent variant.5449 1 110146104 [A/G] NM_005272 GNAT2 EXON Nonsense_R313X 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 rs4970768 1 110156212 [A/G] exm81619 1 110163879 [A/G] NM_001257360,NM_139156,NM_004037 AMPD2,AMPD2,AMPD2 EXON Missense_A82T,Silent,Missense_A82T rs12046107 1 110164657 [A/G] NM_001257360,NM_139156,NM_004037 AMPD2,AMPD2,AMPD2 Silent,Silent,Silent 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 rs524998 1 110169957 [A/G] NM_001257360,NM_139156,NM_004037,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 Silent,Silent,Silent,Silent,Silent 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 rs568686 1 110173775 [T/G] NM_001257360,NM_139156,NM_004037,NM_001257361,NM_203404 AMPD2,AMPD2,AMPD2,AMPD2,AMPD2 EXON Silent,Silent,Silent,Silent,Silent rs681991 1 110195228 [A/G] kgp3155172 1 110198727 [G/C] NR_024538,NM_000850,NM_147148 GSTM4,GSTM4,GSTM4 EXON Silent,Silent,Silent kgp25277353 1 110198788 [T/C] NR_024538,NM_000850,NM_147148 GSTM4,GSTM4,GSTM4 EXON Silent,Silent,Silent rs3191485 1 110199022 [T/C] NR_024538,NM_000850,NM_147148 GSTM4,GSTM4,GSTM4 EXON Silent,Missense_T4I,Missense_T4I exm81780 1 110200445 [G/C] NR_024538,NM_000850,NM_147148 GSTM4,GSTM4,GSTM4 EXON Silent,Missense_A104G,Missense_A104G rs3211196 1 110201481 [A/C] NR_024538,NM_000850,NM_147148 GSTM4,GSTM4,GSTM4 EXON Silent,Missense_Q136K,Missense_Q136K exm81787 1 110201643 [A/G] NR_024538,NM_000850,NM_147148 GSTM4,GSTM4,GSTM4 EXON Silent,Missense_A160T,Missense_A160T kgp7859532 1 110201654 [T/C] NR_024538,NM_000850,NM_147148 GSTM4,GSTM4,GSTM4 EXON Silent,Synonymous_V163V,Synonymous_V163V kgp15428935 1 110201667 [T/C] NR_024538,NM_000850,NM_147148 GSTM4,GSTM4,GSTM4 EXON Silent,Missense_R168C,Missense_R168C exm81798 1 110203823 [T/C] NR_024538,NM_000850,NM_147148 GSTM4,GSTM4,GSTM4 EXON Silent,Missense_R202C,Silent exm81802 1 110203851 [A/G] NR_024538,NM_000850,NM_147148 GSTM4,GSTM4,GSTM4 EXON Silent,Missense_R211K,Silent exm81803 1 110203853 [A/G] NR_024538,NM_000850,NM_147148 GSTM4,GSTM4,GSTM4 EXON Silent,Missense_V212M,Silent kgp15844410 1 110203911 [T/C] NR_024538,NM_000850,NM_147148 GSTM4,GSTM4,GSTM4 EXON Silent,Silent,Silent kgp8762234 1 110208089 [T/A] NM_147148 GSTM4 EXON Silent rs625456 1 110210671 [T/G] NM_000848,NM_001142368 GSTM2,GSTM2 EXON Silent,Silent exm1692076 1 110210740 [A/G] NM_000848,NM_001142368 GSTM2,GSTM2 EXON Missense_M1I,Missense_M1I variant.5472 1 110211110 [A/G] NM_000848,NM_001142368 GSTM2,GSTM2 EXON Missense_T34A,Missense_T34A exm81836 1 110212120 [A/G] NM_000848,NM_001142368 GSTM2,GSTM2 EXON Missense_R96H,Missense_R96H indel.5474 1 110212143 [I/D] NM_000848,NM_001142368 GSTM2,GSTM2 EXON variant.5475 1 110212194 [T/G] NM_000848,NM_001142368 GSTM2,GSTM2 Silent,Silent exm81844 1 110214116 [A/G] NM_000848,NM_001142368 GSTM2,GSTM2 EXON Missense_A160T,Missense_A160T exm81845 1 110214120 [A/G] NM_000848,NM_001142368 GSTM2,GSTM2 EXON Missense_Y161C,Missense_Y161C kgp24886766 1 110214196 [C/G] NM_000848,NM_001142368 GSTM2,GSTM2 EXON Synonymous_S186S,Synonymous_S186S rs655315 1 110215178 [A/G] NM_000848,NM_001142368 GSTM2,GSTM2 Silent,Silent rs12068997 1 110230836 [T/C] NM_000561,NM_146421 GSTM1,GSTM1 EXON Synonymous_S27S,Synonymous_S27S exm2230743 1 110233104 [T/A] NM_000561,NM_146421 GSTM1,GSTM1 EXON Missense_D162V,Silent exm81898 1 110233115 [A/C] NM_000561,NM_146421 GSTM1,GSTM1 EXON Missense_L166I,Silent rs3754446 1 110253241 [A/C] var_1_110255320 1 110255320 [T/C] NM_000851 GSTM5 Silent exm81964 1 110256344 [C/G] NM_000851 GSTM5 EXON Missense_N107K exm81966 1 110256364 [A/T] NM_000851 GSTM5 EXON Missense_L114Q kgp25041089 1 110257641 [T/C] NM_000851 GSTM5 EXON Missense_R145W exm81979 1 110257814 [C/G] NM_000851 GSTM5 EXON Missense_K173N kgp10114047 1 110257854 [T/C] NM_000851 GSTM5 EXON Missense_R187C exm81994 1 110260004 [T/C] NM_000851 GSTM5 EXON Nonsense_R205X exm81997 1 110260040 [A/G] NM_000851 GSTM5 EXON Missense_S217G kgp15708162 1 110260276 [A/G] NM_000851 GSTM5 EXON Silent kgp15419817 1 110260297 [T/C] NM_000851 GSTM5 EXON Silent kgp24902563 1 110260658 [T/C] NM_000851 GSTM5 EXON Silent rs11807 1 110260742 [T/C] NM_000851 GSTM5 EXON Silent kgp15817546 1 110260830 [T/C] NM_000851 GSTM5 EXON Silent rs4970774 1 110268828 [A/C] rs1854962 1 110269286 [A/G] rs12059276 1 110273541 [T/C] kgp15192508 1 110276772 [C/G] NM_000849,NR_024537 GSTM3,GSTM3 EXON Silent,Silent kgp5736156 1 110276861 [T/C] NM_000849,NR_024537 GSTM3,GSTM3 EXON Silent,Silent rs12087868 1 110277262 [A/G] NM_000849,NR_024537 GSTM3,GSTM3 EXON Silent,Silent kgp5336935 1 110277403 [T/C] NM_000849,NR_024537 GSTM3,GSTM3 EXON Silent,Silent rs12058634 1 110278054 [T/C] NM_000849,NR_024537 GSTM3,GSTM3 EXON Silent,Silent rs12040968 1 110278167 [T/C] NM_000849,NR_024537 GSTM3,GSTM3 EXON Silent,Silent kgp24961028 1 110278189 [G/C] NM_000849,NR_024537 GSTM3,GSTM3 EXON Silent,Silent kgp15859527 1 110278213 [C/G] NM_000849,NR_024537 GSTM3,GSTM3 EXON Silent,Silent kgp10666312 1 110278972 [T/C] NM_000849,NR_024537 GSTM3,GSTM3 EXON Silent,Silent kgp15371388 1 110279061 [T/C] NM_000849,NR_024537 GSTM3,GSTM3 EXON Silent,Silent rs2234696 1 110279602 [T/G] NM_000849,NR_024537 GSTM3,GSTM3 EXON Silent,Silent exm81999 1 110279701 [T/C] NM_000849,NR_024537 GSTM3,GSTM3 EXON Missense_V224I,Silent variant.5483 1 110280074 [A/G] NM_000849,NR_024537 GSTM3,GSTM3 Silent,Silent newrs149969876 1 110280079 [T/C] NM_000849,NR_024537 GSTM3,GSTM3 EXON Synonymous_E193E,Silent rs1803687 1 110280362 [G/C] NM_000849,NR_024537 GSTM3,GSTM3 EXON Missense_K128N,Silent variant.5486 1 110280745 [A/G] NM_000849,NR_024537 GSTM3,GSTM3 EXON Nonsense_Q114X,Silent exm1692455 1 110280751 [A/G] NM_000849,NR_024537 GSTM3,GSTM3 EXON Missense_R112C,Silent exm82022 1 110280921 [T/C] NM_000849,NR_024537 GSTM3,GSTM3 EXON Missense_R86H,Silent exm82029 1 110282482 [T/C] NM_000849,NR_024537 GSTM3,GSTM3 EXON Missense_E33K,Silent exm82031 1 110282511 [A/G] NM_000849,NR_024537 GSTM3,GSTM3 EXON Missense_L23P,Silent exm82037 1 110282891 [T/G] NM_000849,NR_024537 GSTM3,GSTM3 EXON Missense_M7L,Silent exm1692490 1 110282909 [T/C] NM_000849,NR_024537 GSTM3,GSTM3 EXON Missense_M1V,Silent rs4970777 1 110283785 [T/C] exm82048 1 110293310 [T/C] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_R582Q,Missense_R551Q,Missense_R581Q exm82057 1 110293386 [T/C] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_G557R,Missense_G526R,Missense_G556R exm82058 1 110293388 [A/G] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_T556M,Missense_T525M,Missense_T555M exm82063 1 110293943 [T/C] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_E533K,Missense_E502K,Missense_E532K exm82070 1 110294356 [A/G] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_R496W,Missense_R465W,Missense_R495W exm82072 1 110294385 [T/C] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_R486Q,Missense_R455Q,Missense_R485Q rs7537620 1 110298635 [T/C] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 Silent,Silent,Silent exm82095 1 110299677 [T/G] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_N361K,Missense_N360K,Missense_N360K exm82097 1 110299691 [A/G] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_P357S,Missense_P356S,Missense_P356S exm82107 1 110300441 [A/G] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_H294Y,Missense_H293Y,Missense_H293Y variant.5495 1 110300566 [T/C] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_G279S,Missense_G278S,Missense_G278S variant.5496 1 110300572 [A/G] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Nonsense_Q277X,Nonsense_Q276X,Nonsense_Q276X indel.5497 1 110300579 [I/D] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON indel.5498 1 110300600 [D/I] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON indel.5499 1 110300634 [I/D] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON exm82117 1 110301012 [T/C] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_A216T,Missense_A215T,Missense_A215T exm82118 1 110301023 [T/C] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_R212H,Missense_R211H,Missense_R211H exm1692589 1 110301254 [T/C] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_D166N,Missense_D165N,Missense_D165N exm82125 1 110301260 [T/C] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_G164S,Missense_G163S,Missense_G163S exm1692598 1 110301709 [T/C] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_A146T,Missense_A146T,Missense_A146T exm82130 1 110301919 [T/C] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_V116M,Missense_V116M,Missense_V116M exm82132 1 110301983 [G/C] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_D94E,Missense_D94E,Missense_D94E exm82133 1 110301991 [A/G] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_R92C,Missense_R92C,Missense_R92C exm82145 1 110302450 [T/C] NM_139053,NM_024526,NM_133181 EPS8L3,EPS8L3,EPS8L3 EXON Missense_M35I,Missense_M35I,Missense_M35I rs943640 1 110307440 [A/G] rs6537876 1 110323150 [T/C] rs7524737 1 110332816 [T/G] exm2264888 1 110346355 [A/G] rs12039964 1 110348040 [T/C] exm-rs10494112 1 110352477 [A/G] rs480419 1 110359882 [A/G] rs2938616 1 110364275 [T/G] exm-rs484959 1 110366083 [T/C] rs523213 1 110372198 [A/G] rs525566 1 110375695 [A/G] rs12566133 1 110392219 [T/G] rs1021880 1 110424529 [A/G] rs453577 1 110426778 [A/G] rs333966 1 110441792 [A/G] rs1999713 1 110450177 [T/C] exm82166 1 110460068 [T/A] NM_172211,NM_172210,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Missense_Y127N,Missense_Y127N,Missense_Y127N,Missense_Y127N rs333968 1 110460520 [T/C] NM_172211,NM_172210,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 Silent,Silent,Silent,Silent exm82172 1 110465836 [G/C] NM_172211,NM_172210,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Missense_P198R,Missense_P198R,Missense_P198R exm82173 1 110465848 [T/C] NM_172211,NM_172210,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Missense_P202L,Missense_P202L,Missense_P202L exm82175 1 110465874 [T/C] NM_172211,NM_172210,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Missense_L211F,Missense_L211F,Missense_L211F exm82177 1 110465887 [T/C] NM_172211,NM_172210,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Missense_M215T,Missense_M215T,Missense_M215T exm82185 1 110466087 [A/C] NM_172211,NM_172210,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Missense_P282T,Missense_P282T,Missense_P282T exm82197 1 110466265 [A/G] NM_172211,NM_172210,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Missense_S341N,Missense_S341N,Missense_S341N exm82202 1 110466339 [A/G] NM_172211,NM_172210,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Silent,Missense_A366T,Missense_A366T exm82211 1 110466466 [T/C] NM_172211,NM_172210,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Silent,Missense_L408P,Missense_L408P exm82214 1 110466535 [T/C] NM_172211,NM_172210,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Silent,Missense_S431L,Missense_S431L exm82215 1 110466543 [G/C] NM_172211,NM_172210,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Silent,Missense_V434L,Missense_V434L exm82217 1 110466555 [A/G] NM_172211,NM_172210,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Silent,Missense_G438R,Missense_G438R rs2229165 1 110466555 [A/G] NM_172211,NM_172210,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Silent,Silent,Missense_G438R,Missense_G438R exm82225 1 110466709 [T/C] NM_172211,NM_172210,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Missense_F191S,Missense_F373S,Missense_F489S,Missense_F489S exm82239 1 110467420 [T/C] NM_172211,NM_172210,NM_000757,NM_172212 CSF1,CSF1,CSF1,CSF1 EXON Missense_A233V,Missense_A415V,Missense_A531V,Missense_A531V rs756325 1 110478064 [T/C] rs6537885 1 110478803 [T/C] rs7555325 1 110478911 [A/G] rs7417586 1 110480564 [A/G] rs7540934 1 110483773 [A/G] rs17025216 1 110486839 [T/C] rs7365459 1 110492809 [T/G] rs390923 1 110499669 [A/G] rs11579145 1 110501597 [A/G] rs11102043 1 110517396 [T/C] rs12066280 1 110517701 [A/G] 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 rs2360635 1 110604747 [A/G] NM_006492 ALX3 Silent newrs121908168 1 110607256 [A/G] NM_006492 ALX3 EXON Missense_R183W rs3754443 1 110609288 [T/G] NM_006492 ALX3 Silent rs10127659 1 110619665 [A/C] rs756134 1 110640235 [T/C] rs17025426 1 110645327 [T/C] rs673792 1 110646283 [A/G] rs4839136 1 110650174 [A/G] exm82459 1 110655189 [G/C] NM_203412 UBL4B EXON Missense_Q11H exm82462 1 110655230 [T/C] NM_203412 UBL4B EXON Missense_T25M 1KG_1_110655430 1 110655430 [I/D] NM_203412 UBL4B EXON 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 rs2168144 1 110657532 [A/G] rs17669930 1 110657949 [T/C] rs924181 1 110680114 [A/G] rs6679244 1 110686937 [T/C] exm-rs877068 1 110698045 [T/C] NM_001010898 SLC6A17 Silent exm82504 1 110709720 [A/G] NM_001010898 SLC6A17 EXON Missense_A57T rs7554444 1 110713909 [T/C] NM_001010898 SLC6A17 Silent exm82510 1 110714819 [A/G] NM_001010898 SLC6A17 EXON Missense_I142V exm1693329 1 110717526 [A/G] NM_001010898 SLC6A17 EXON Missense_V233M rs4839223 1 110728459 [A/G] NM_001010898 SLC6A17 Silent rs621514 1 110733794 [A/G] NM_001010898 SLC6A17 Silent 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 rs2784140 1 110738296 [A/G] NM_001010898 SLC6A17 EXON Synonymous_S527S 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 rs2603594 1 110759455 [A/G] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 Silent,Silent,Silent rs615204 1 110759796 [T/C] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 Silent,Silent,Silent rs628594 1 110760444 [A/G] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 Silent,Silent,Silent exm82614 1 110765691 [T/C] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 EXON Silent,Missense_R262C,Missense_R262C exm82619 1 110765712 [A/G] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 EXON Silent,Missense_V269M,Missense_V269M exm82621 1 110765741 [T/G] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 EXON Silent,Missense_E278D,Missense_E278D exm82623 1 110765766 [A/G] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 EXON Silent,Missense_V287I,Missense_V287I exm82626 1 110765835 [A/G] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 EXON Silent,Missense_V310I,Missense_V310I exm82628 1 110765925 [T/C] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 EXON Silent,Missense_R340C,Missense_R340C exm82649 1 110766454 [A/G] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 EXON Silent,Missense_R516Q,Missense_R516Q exm82650 1 110766466 [A/G] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 EXON Silent,Missense_C520Y,Missense_C520Y exm82652 1 110766477 [A/G] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 EXON Silent,Missense_S524G,Missense_S524G exm82655 1 110766490 [A/G] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 EXON Silent,Missense_R528Q,Missense_R528Q exm82658 1 110768602 [A/G] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 EXON Silent,Missense_K541E,Missense_K541E exm82661 1 110768681 [T/C] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 EXON Silent,Missense_T567I,Missense_T567I exm82667 1 110768710 [T/C] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 EXON Silent,Missense_S577P,Missense_S577P exm-rs958798 1 110770223 [T/G] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 Silent,Silent,Silent variant.5512 1 110774841 [A/G] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 Silent,Silent,Silent variant.5513 1 110775470 [A/G] NR_036437,NM_004978,NM_001039574 KCNC4,KCNC4,KCNC4 EXON Silent,Silent,Silent rs2603590 1 110780834 [T/C] rs2181695 1 110781469 [T/C] rs814318 1 110788825 [T/C] rs2198612 1 110790977 [A/C] rs2224807 1 110794827 [A/G] rs2209158 1 110795018 [A/C] rs4839287 1 110816152 [A/G] rs3904626 1 110816491 [T/C] rs643841 1 110832827 [T/C] NR_036595 LOC440600 Silent rs4112315 1 110842415 [T/C] NR_036595 LOC440600 Silent rs666493 1 110847884 [A/G] NR_036595 LOC440600 Silent exm2249550 1 110847884 [A/G] NR_036595 LOC440600 Silent rs2201808 1 110862068 [T/C] NR_036595 LOC440600 Silent rs6537656 1 110863079 [T/C] NR_036595 LOC440600 Silent exm1694106 1 110882052 [A/G] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_V9M,Missense_V9M exm82691 1 110882103 [A/G] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_S26G,Missense_S26G exm1694108 1 110882116 [A/G] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_R30Q,Missense_R30Q exm2273675 1 110882221 [G/C] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_T65S,Missense_T65S exm82710 1 110882499 [T/G] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_S158A,Missense_S158A exm82713 1 110882536 [A/G] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_K170R,Missense_K170R exm82734 1 110883034 [A/G] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_Y336C,Missense_Y336C exm82757 1 110883697 [T/C] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_A557V,Missense_A557V exm82765 1 110883852 [A/G] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_E609K,Missense_E609K exm82770 1 110884030 [T/C] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_A668V,Missense_A668V rs1572263 1 110885736 [A/G] NM_001201545,NM_022768 RBM15,RBM15 Silent,Silent rs3768460 1 110887075 [A/G] NM_001201545,NM_022768 RBM15,RBM15 Silent,Silent variant.5516 1 110888172 [T/C] NM_001201545,NM_022768 RBM15,RBM15 EXON Silent,Nonsense_Q959X exm82797 1 110888948 [A/G] NM_001201545,NM_022768 RBM15,RBM15 EXON Missense_R961Q,Silent rs12562051 1 110901492 [A/G] exm82801 1 110906406 [T/C] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Nonsense_W482X,Missense_G379E,Nonsense_W434X,Nonsense_W314X,Nonsense_W420X exm82803 1 110906471 [A/G] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_F461L,Synonymous_T357T,Missense_F413L,Missense_F293L,Missense_F399L indel.5518 1 110906495 [D/I] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON rs722570 1 110913120 [T/C] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 Silent,Silent,Silent,Silent,Silent exm82804 1 110918082 [A/G] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_A445V,Missense_A335V,Missense_A397V,Missense_A277V,Missense_A383V exm82814 1 110919703 [A/C] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_S371A,Missense_S261A,Missense_S323A,Missense_S203A,Missense_S309A indel.5520 1 110919761 [I/D] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON exm82817 1 110919771 [A/G] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_T348M,Missense_T238M,Missense_T300M,Missense_T180M,Missense_T286M exm82825 1 110921715 [T/G] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_N264H,Missense_N154H,Missense_N216H,Silent,Missense_N202H exm82829 1 110921780 [A/G] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_T242M,Missense_T132M,Missense_T194M,Silent,Missense_T180M exm82831 1 110921792 [T/A] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_K238M,Missense_K128M,Missense_K190M,Silent,Missense_K176M exm82834 1 110921843 [T/G] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_E221A,Missense_E111A,Missense_E173A,Silent,Missense_E159A exm82838 1 110921952 [T/C] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_A185T,Missense_A75T,Missense_A137T,Silent,Missense_A123T rs2946571 1 110922140 [A/G] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 Silent,Silent,Silent,Silent,Silent variant.5522 1 110923599 [T/C] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 Silent,Silent,Silent,Silent,Silent newrs145736696 1 110924274 [T/C] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_G122S,Silent,Silent,Missense_G122S,Missense_G60S rs3738750 1 110924353 [A/G] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Synonymous_F95F,Silent,Silent,Synonymous_F95F,Synonymous_F33F exm82852 1 110924406 [A/C] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_A78S,Silent,Silent,Missense_A78S,Missense_A16S indel.5524 1 110924415 [I/D] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON exm82856 1 110925501 [A/T] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 EXON Missense_I59F,Silent,Missense_I59F,Missense_I59F,Silent variant.5525 1 110931854 [A/C] NM_004696,NM_001201548,NM_001201546,NM_001201549,NM_001201547 SLC16A4,SLC16A4,SLC16A4,SLC16A4,SLC16A4 Silent,Silent,Silent,Silent,Silent rs12126959 1 110936383 [A/C] exm1694202 1 110946580 [A/G] NM_006402 LAMTOR5 EXON Missense_P141L exm82871 1 110946636 [G/C] NM_006402 LAMTOR5 EXON Missense_E122D rs6671673 1 110949720 [T/C] NM_006402 LAMTOR5 Silent 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 rs4839011 1 110955220 [T/G] rs7546690 1 110958034 [A/G] rs4839387 1 110968264 [T/G] rs7515826 1 110974248 [A/G] rs4839015 1 110981370 [A/C] rs7534042 1 110988874 [A/G] rs1857512 1 110993349 [A/G] exm1694244 1 110993852 [A/C] NM_032414 PROK1 EXON Missense_T5K newrs187548600 1 110993854 [T/C] NM_032414 PROK1 EXON Nonsense_R6X exm82905 1 110993866 [A/C] NM_032414 PROK1 EXON Missense_M10L rs4839391 1 110993990 [A/G] NM_032414 PROK1 Silent 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 rs7514102 1 110998854 [A/G] NM_032414 PROK1 EXON Missense_V67I exm82919 1 110998854 [A/G] NM_032414 PROK1 EXON Missense_V67I exm82921 1 110998939 [A/G] NM_032414 PROK1 EXON Missense_R95H rs12118420 1 111009859 [T/C] rs11102115 1 111011847 [A/G] rs7537693 1 111016758 [A/G] rs4839417 1 111018598 [T/C] rs17025859 1 111018874 [A/G] rs6677767 1 111022475 [T/C] rs10776712 1 111028588 [A/G] NR_003599 CYMP Silent rs6537664 1 111035174 [T/C] rs815324 1 111038840 [T/C] rs12031009 1 111040235 [A/G] rs561606 1 111041925 [A/G] rs10857825 1 111044227 [T/C] rs1281182 1 111050158 [T/C] exm82930 1 111059908 [T/C] NM_005549 KCNA10 EXON Missense_N501S exm82932 1 111059966 [T/C] NM_005549 KCNA10 EXON Missense_R482G indel.5532 1 111059972 [I/D] NM_005549 KCNA10 EXON 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 rs3748731 1 111061011 [A/C] NM_005549 KCNA10 EXON Synonymous_R133R 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 rs12748140 1 111080468 [T/C] rs6537666 1 111082521 [A/G] rs1769207 1 111093653 [T/C] rs6537668 1 111100562 [T/C] rs6656346 1 111103688 [A/G] rs17632564 1 111104733 [A/G] rs7532859 1 111127599 [A/C] exm-rs4839069 1 111137811 [A/G] NM_001204269 KCNA2 Silent rs4839069 1 111137811 [A/G] NM_001204269 KCNA2 Silent rs9782928 1 111141682 [T/C] NM_001204269 KCNA2 Silent indel.5536 1 111146925 [D/I] NM_001204269,NM_004974 KCNA2,KCNA2 EXON rs3887820 1 111148080 [A/C] NM_001204269,NM_004974 KCNA2,KCNA2 EXON Silent,Silent rs1032429 1 111151567 [T/C] NM_001204269 KCNA2 Silent rs2172514 1 111166960 [A/G] NM_001204269 KCNA2 Silent exm2259694 1 111171378 [T/C] NM_001204269 KCNA2 Silent rs11102140 1 111172413 [A/G] NM_001204269 KCNA2 Silent rs2797531 1 111173494 [A/G] NM_001204269 KCNA2 Silent rs2640500 1 111181086 [T/C] rs2797537 1 111193595 [A/G] rs1058184 1 111215472 [A/C] NM_002232 KCNA3 EXON Silent exm83089 1 111216792 [A/G] NM_002232 KCNA3 EXON Missense_R214C exm83095 1 111217028 [A/C] NM_002232 KCNA3 EXON Missense_R135L rs2821557 1 111218920 [T/C] rs3762379 1 111219344 [A/G] rs12061304 1 111237685 [A/G] exm-rs12061304 1 111237685 [A/G] rs343602 1 111257724 [A/G] rs4839557 1 111262809 [A/G] rs343609 1 111270605 [A/G] rs1953099 1 111290542 [A/G] rs440156 1 111295948 [A/G] rs569542 1 111296652 [A/G] rs343791 1 111301623 [T/C] rs11102155 1 111302136 [T/C] rs343792 1 111302518 [T/C] rs482620 1 111309340 [A/G] rs574508 1 111311541 [T/C] rs1160413 1 111315694 [A/G] rs556063 1 111318291 [A/G] rs488147 1 111319892 [A/G] rs520056 1 111330531 [A/G] rs4839566 1 111331000 [A/C] rs724032 1 111334391 [A/G] rs343815 1 111336774 [T/C] rs343819 1 111342490 [T/C] exm2268738 1 111369934 [T/C] rs343769 1 111370372 [A/G] rs6655953 1 111371644 [T/C] rs6676798 1 111393436 [T/C] rs6672672 1 111397090 [T/C] rs1494324 1 111415841 [A/G] NM_001040033,NM_000560 CD53,CD53 EXON Silent,Silent rs2885805 1 111417915 [A/C] NM_001040033,NM_000560 CD53,CD53 Silent,Silent rs10857834 1 111421712 [A/C] NM_001040033,NM_000560 CD53,CD53 Silent,Silent rs1494322 1 111422817 [A/G] NM_001040033,NM_000560 CD53,CD53 Silent,Silent rs4839580 1 111430758 [T/C] NM_001040033,NM_000560 CD53,CD53 Silent,Silent exm83120 1 111434034 [A/G] NM_001040033,NM_000560 CD53,CD53 EXON Missense_G2S,Missense_G2S indel.5539 1 111435149 [I/D] NM_001040033,NM_000560 CD53,CD53 EXON exm83132 1 111436989 [A/C] NM_001040033,NM_000560 CD53,CD53 EXON Missense_T98N,Missense_T98N newrs190729207 1 111439344 [T/C] NM_001040033,NM_000560 CD53,CD53 EXON Nonsense_R165X,Nonsense_R165X exm83148 1 111439345 [A/G] NM_001040033,NM_000560 CD53,CD53 EXON Missense_R165Q,Missense_R165Q rs4839586 1 111439902 [T/C] NM_001040033,NM_000560 CD53,CD53 Silent,Silent rs7521468 1 111449999 [T/C] rs1282023 1 111459847 [T/C] rs1712674 1 111466053 [A/C] rs1418425 1 111468886 [T/C] rs2885806 1 111470050 [A/G] rs11102184 1 111485207 [A/G] 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 rs2232041 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 indel.5544 1 111494346 [D/I] NM_001006945,NM_018372 LRIF1,LRIF1 EXON variant.5545 1 111494470 [A/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Silent,Nonsense_R346X variant.5546 1 111494707 [A/G] NM_001006945,NM_018372 LRIF1,LRIF1 EXON Silent,Nonsense_Q267X indel.5547 1 111494874 [I/D] NM_001006945,NM_018372 LRIF1,LRIF1 EXON rs1418426 1 111498111 [T/C] NM_001006945,NM_018372 LRIF1,LRIF1 Silent,Silent rs4838884 1 111528570 [A/G] rs7545868 1 111543527 [T/C] rs1149185 1 111546531 [T/C] rs6686512 1 111557205 [A/G] rs1282288 1 111557266 [T/C] rs1282330 1 111573680 [A/G] rs1578790 1 111575921 [T/G] rs1659659 1 111586053 [T/C] rs11583268 1 111586123 [T/G] rs11102208 1 111610738 [T/C] rs1282129 1 111622739 [A/G] rs1282275 1 111629571 [A/G] rs11102212 1 111642031 [A/G] rs6662965 1 111642226 [A/C] rs17026872 1 111646770 [A/G] rs11002 1 111660540 [T/C] NM_178454 DRAM2 EXON Silent exm83244 1 111660846 [A/G] NM_178454 DRAM2 EXON Missense_L246P indel.5549 1 111661439 [I/D] NM_178454 DRAM2 EXON variant.5550 1 111661442 [T/G] NM_178454 DRAM2 EXON Nonsense_Y226X 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 indel.5555 1 111674084 [I/D] NM_178454 DRAM2 EXON rs1335645 1 111684276 [A/G] NM_001007794,NM_006090 CEPT1,CEPT1 Silent,Silent 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 rs694180 1 111726213 [A/G] NM_001007794,NM_006090 CEPT1,CEPT1 Silent,Silent exm83314 1 111726906 [T/G] NM_001007794,NM_006090 CEPT1,CEPT1 EXON Missense_S409A,Missense_S409A rs626339 1 111729325 [T/C] NM_001271833,NM_024901 DENND2D,DENND2D EXON Silent,Silent 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 newrs146280067 1 111731323 [T/C] NM_001271833,NM_024901 DENND2D,DENND2D Silent,Silent exm83351 1 111737293 [A/G] NM_001271833,NM_024901 DENND2D,DENND2D EXON Missense_S231F,Missense_S234F rs9970286 1 111737398 [A/G] NM_001271833,NM_024901 DENND2D,DENND2D Silent,Silent 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 rs2296381 1 111746355 [T/C] NM_001271833 DENND2D Silent rs2477582 1 111748325 [A/G] rs17014713 1 111763153 [T/C] rs12070867 1 111772365 [T/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Silent,Silent,Silent exm1696207 1 111773462 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_S57P,Missense_S47P,Silent exm83429 1 111773903 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_F106L,Missense_F96L,Missense_F27L exm83432 1 111777529 [A/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Synonymous_G110G,Synonymous_G100G,Synonymous_G31G exm83433 1 111777560 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_R121C,Missense_R111C,Missense_R42C exm83434 1 111777571 [A/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_F124L,Missense_F114L,Missense_F45L exm83435 1 111777575 [A/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_N126D,Missense_N116D,Missense_N47D newrs144364957 1 111777623 [A/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_V142I,Missense_V132I,Missense_V63I exm83441 1 111778325 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_A182V,Missense_A172V,Missense_A103V exm83442 1 111778328 [A/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_G183D,Missense_G173D,Missense_G104D exm83444 1 111778330 [A/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_V184I,Missense_V174I,Missense_V105I variant.5564 1 111778385 [A/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_K202T,Missense_K192T,Missense_K123T exm83450 1 111778692 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_W218R,Missense_W208R,Missense_W139R exm1696250 1 111778701 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_P221S,Missense_P211S,Missense_P142S rs2251608 1 111778824 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 Silent,Silent,Silent exm83460 1 111781397 [A/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_H254P,Missense_H244P,Missense_H175P exm83465 1 111781504 [A/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_G290R,Missense_G280R,Missense_G211R exm83466 1 111781528 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_S298P,Missense_S288P,Missense_S219P exm83467 1 111781535 [G/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_G300A,Missense_G290A,Missense_G221A exm83469 1 111781555 [G/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 Silent,Silent,Silent exm83471 1 111783947 [A/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 Silent,Silent,Silent exm83482 1 111784037 [A/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_Y336C,Missense_Y326C,Missense_Y257C rs11102221 1 111784816 [A/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 Silent,Silent,Silent variant.5568 1 111784848 [T/G] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 Silent,Silent,Silent exm2230781 1 111784945 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 EXON Missense_P378S,Missense_P368S,Missense_P299S rs3934923 1 111785467 [T/C] NM_004000,NM_001025197,NM_001025199 CHI3L2,CHI3L2,CHI3L2 Silent,Silent,Silent rs7514853 1 111794733 [A/G] rs3122591 1 111810174 [T/C] rs3118208 1 111812709 [A/G] rs6703883 1 111820644 [T/G] rs12048213 1 111821434 [T/G] rs4838896 1 111821777 [T/C] rs12028469 1 111822648 [A/C] rs4323713 1 111823220 [T/G] NR_003928 CHIAP2 Silent rs4575084 1 111826609 [A/G] NR_003928 CHIAP2 Silent rs3806446 1 111832291 [T/C] rs4838897 1 111833661 [T/C] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12563158 1 111846416 [T/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7531210 1 111852352 [T/C] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4839122 1 111854207 [T/C] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2263358 1 111854859 [T/C] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R35W,Silent exm83509 1 111854889 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_N45D,Silent exm83510 1 111854895 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_D47N,Silent exm83514 1 111854925 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_A57T,Silent exm83515 1 111854938 [T/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_R61M,Silent rs2786151 1 111857087 [T/C] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs2786152 1 111857154 [T/C] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm83522 1 111857201 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_W99X,Silent exm83523 1 111857208 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_G102R,Silent exm1696802 1 111857219 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm83529 1 111857951 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Missense_K17R,Silent,Missense_K17R,Silent,Missense_K125R,Missense_K17R exm83536 1 111858053 [T/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Silent,Silent,Missense_V51G,Silent,Missense_V51G,Silent,Missense_V159G,Missense_V51G exm2230784 1 111860310 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_R2H,Missense_R2H,Missense_R55H,Missense_R2H,Missense_R55H,Missense_R2H,Missense_R163H,Missense_R55H variant.5573 1 111860324 [T/C] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Nonsense_Q7X,Nonsense_Q7X,Nonsense_Q60X,Nonsense_Q7X,Nonsense_Q60X,Nonsense_Q7X,Nonsense_Q168X,Nonsense_Q60X exm83542 1 111860327 [T/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Nonsense_E8X,Nonsense_E8X,Nonsense_E61X,Nonsense_E8X,Nonsense_E61X,Nonsense_E8X,Nonsense_E169X,Nonsense_E61X exm83545 1 111860339 [T/A] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_I12F,Missense_I12F,Missense_I65F,Missense_I12F,Missense_I65F,Missense_I12F,Missense_I173F,Missense_I65F newrs144676218 1 111861114 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm83558 1 111861114 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm1696821 1 111861196 [T/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_F110V,Missense_F110V,Missense_F163V,Missense_F110V,Missense_F163V,Missense_F110V,Missense_F271V,Missense_F163V exm83565 1 111861217 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_N117D,Missense_N117D,Missense_N170D,Missense_N117D,Missense_N170D,Missense_N117D,Missense_N278D,Missense_N170D exm83566 1 111861233 [T/C] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_A122V,Missense_A122V,Missense_A175V,Missense_A122V,Missense_A175V,Missense_A122V,Missense_A283V,Missense_A175V exm83567 1 111861248 [T/C] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_A127V,Missense_A127V,Missense_A180V,Missense_A127V,Missense_A180V,Missense_A127V,Missense_A288V,Missense_A180V exm83570 1 111861268 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_A134T,Missense_A134T,Missense_A187T,Missense_A134T,Missense_A187T,Missense_A134T,Missense_A295T,Missense_A187T exm83575 1 111861741 [C/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm83577 1 111861776 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_G156E,Missense_G156E,Missense_G209E,Missense_G156E,Missense_G209E,Missense_G156E,Missense_G317E,Missense_G209E rs2275253 1 111861841 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_I178V,Missense_I178V,Missense_I231V,Missense_I178V,Missense_I231V,Missense_I178V,Missense_I339V,Missense_I231V exm83582 1 111861841 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_I178V,Missense_I178V,Missense_I231V,Missense_I178V,Missense_I231V,Missense_I178V,Missense_I339V,Missense_I231V exm83586 1 111861974 [T/C] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_F193S,Missense_F193S,Missense_F246S,Missense_F193S,Missense_F246S,Missense_F193S,Missense_F354S,Missense_F246S rs2275254 1 111861974 [T/C] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_F193S,Missense_F193S,Missense_F246S,Missense_F193S,Missense_F246S,Missense_F193S,Missense_F354S,Missense_F246S exm83588 1 111861982 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_A196T,Missense_A196T,Missense_A249T,Missense_A196T,Missense_A249T,Missense_A196T,Missense_A357T,Missense_A249T exm83592 1 111862064 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_K223R,Missense_K223R,Missense_K276R,Missense_K223R,Missense_K276R,Missense_K223R,Missense_K384R,Missense_K276R exm83599 1 111862889 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_S250N,Missense_S250N,Missense_S303N,Missense_S250N,Missense_S303N,Missense_S250N,Missense_S411N,Missense_S303N exm83601 1 111862903 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_G255R,Missense_G255R,Missense_G308R,Missense_G255R,Missense_G308R,Missense_G255R,Missense_G416R,Missense_G308R exm83604 1 111862952 [T/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_V271G,Missense_V271G,Missense_V324G,Missense_V271G,Missense_V324G,Missense_V271G,Missense_V432G,Missense_V324G exm83607 1 111862973 [C/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_P278R,Missense_P278R,Missense_P331R,Missense_P278R,Missense_P331R,Missense_P278R,Missense_P439R,Missense_P331R exm83611 1 111863034 [C/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_N298K,Missense_N298K,Missense_N351K,Missense_N298K,Missense_N351K,Missense_N298K,Missense_N459K,Missense_N351K exm83614 1 111863044 [A/G] NM_001258002,NM_001258004,NM_001258003,NM_001040623,NM_021797,NM_001258005,NM_201653,NM_001258001 CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA,CHIA EXON Missense_G302R,Missense_G302R,Missense_G355R,Missense_G302R,Missense_G355R,Missense_G302R,Missense_G463R,Missense_G355R rs10776724 1 111869487 [A/C] rs1832286 1 111873172 [T/C] rs2820075 1 111875202 [T/G] rs7532160 1 111875706 [A/G] exm2230788 1 111889283 [C/G] NM_181643 PIFO EXON Missense_F3L exm83620 1 111889294 [A/G] NM_181643 PIFO Silent rs11102256 1 111889391 [T/C] 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 indel.5582 1 111891168 [I/D] NM_181643 PIFO EXON exm83629 1 111891170 [A/C] NM_181643 PIFO EXON Missense_K97N exm83630 1 111891192 [A/C] NM_181643 PIFO EXON Missense_H105N newrs143677685 1 111891231 [T/C] NM_181643 PIFO EXON Nonsense_R118X rs3820443 1 111892905 [T/C] NM_181643 PIFO Silent exm83645 1 111893914 [A/G] NM_181643 PIFO EXON Missense_N181D rs1668 1 111893958 [A/G] NM_181643 PIFO EXON Silent rs11102257 1 111897335 [A/G] exm2264890 1 111897335 [A/G] rs1106189 1 111899929 [A/G] rs11102258 1 111900279 [T/C] rs2050605 1 111903304 [T/C] rs6663292 1 111904494 [A/G] rs5011850 1 111908450 [T/C] rs11102263 1 111916670 [T/C] rs7513936 1 111924907 [A/G] rs4839130 1 111925349 [A/G] rs6537699 1 111926153 [A/G] rs17027591 1 111930990 [T/C] NR_029429 PGCP1 EXON Silent rs1264880 1 111944073 [T/G] rs1777833 1 111956473 [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 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 rs2485319 1 111957693 [A/G] NM_002557 OVGP1 EXON Missense_M477T 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 var_1_111957912 1 111957912 [T/G] NM_002557 OVGP1 EXON Nonsense_S404X rs10489791 1 111958885 [A/C] NM_002557 OVGP1 Silent exm83719 1 111959075 [T/C] NM_002557 OVGP1 EXON Nonsense_W342X rs4838910 1 111959983 [T/C] NM_002557 OVGP1 Silent exm83724 1 111962256 [T/G] NM_002557 OVGP1 EXON Missense_D332E indel.5588 1 111962306 [I/D] NM_002557 OVGP1 EXON variant.5589 1 111962326 [A/G] NM_002557 OVGP1 EXON Missense_A309V exm83730 1 111963998 [T/C] NM_002557 OVGP1 EXON Missense_R268H exm83743 1 111965646 [T/C] NM_002557 OVGP1 EXON Missense_A171T indel.5590 1 111966210 [I/D] NM_002557 OVGP1 EXON exm83754 1 111968024 [A/C] NM_002557 OVGP1 EXON Missense_W100G newrs1264887 1 111968121 [T/C] NM_002557 OVGP1 Silent indel.5593 1 111969120 [D/I] NM_002557 OVGP1 EXON 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 rs12039707 1 112000344 [T/G] NM_001688 ATP5F1 Silent 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 rs10489794 1 112008135 [A/G] exm83861 1 112018657 [A/G] NM_174896 C1orf162 EXON Missense_G3S exm1697903 1 112019467 [T/C] NM_174896 C1orf162 EXON Missense_P29S variant.5595 1 112020050 [T/C] NM_174896 C1orf162 EXON Missense_Y68H variant.5596 1 112020051 [A/G] NM_174896 C1orf162 Silent exm83872 1 112020320 [A/G] NM_174896 C1orf162 EXON Missense_V84I indel.5597 1 112020397 [D/I] NM_174896 C1orf162 EXON newrs147652304 1 112020623 [T/G] NM_174896 C1orf162 EXON Nonsense_E116X 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 indel.5600 1 112028387 [D/I] NM_020683,NM_001081976 ADORA3,ADORA3 EXON 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 rs7544118 1 112032205 [T/C] NM_020683,NM_001081976 ADORA3,ADORA3 Silent,Silent rs3393 1 112042149 [T/C] NM_020683,NM_001081976,NM_000677 ADORA3,ADORA3,ADORA3 EXON Silent,Silent,Silent exm83930 1 112042574 [A/G] NM_020683,NM_001081976,NM_000677 ADORA3,ADORA3,ADORA3 EXON Silent,Silent,Missense_X319Q rs2229155 1 112042632 [A/G] NM_020683,NM_001081976,NM_000677 ADORA3,ADORA3,ADORA3 EXON Silent,Silent,Synonymous_A299A 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 indel.5602 1 112045694 [D/I] NM_020683,NM_001081976,NM_000677 ADORA3,ADORA3,ADORA3 EXON 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 newrs146244517 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 rs1544224 1 112046540 [A/G] NM_020683,NM_001081976,NM_000677 ADORA3,ADORA3,ADORA3 EXON Silent,Silent,Silent rs11102290 1 112055085 [T/C] NM_001081976 ADORA3 Silent rs4839142 1 112061479 [A/G] NM_001081976 ADORA3 Silent rs10489796 1 112078745 [T/C] NM_001081976 ADORA3 Silent rs3849171 1 112081591 [A/G] NM_001081976 ADORA3 Silent rs2789535 1 112082564 [T/C] NM_001081976 ADORA3 Silent rs2185029 1 112086030 [T/C] NM_001081976 ADORA3 Silent rs7533936 1 112101405 [A/G] NM_001081976 ADORA3 Silent rs2800903 1 112103432 [T/C] NM_001081976 ADORA3 Silent rs2364815 1 112106247 [T/G] NM_001081976 ADORA3 Silent rs10494135 1 112114427 [T/C] rs10857898 1 112120953 [A/G] rs1780555 1 112140475 [A/G] rs2786991 1 112147569 [T/C] NR_034126 LOC100129269 Silent rs11102314 1 112153539 [T/C] rs4839154 1 112156965 [A/C] rs508594 1 112165171 [T/G] NM_002884,NM_001010935 RAP1A,RAP1A Silent,Silent rs2477429 1 112206429 [A/G] NM_002884,NM_001010935 RAP1A,RAP1A Silent,Silent rs558989 1 112241795 [A/G] NM_002884,NM_001010935 RAP1A,RAP1A Silent,Silent rs7526355 1 112241952 [A/C] NM_002884,NM_001010935 RAP1A,RAP1A Silent,Silent rs12751967 1 112243947 [A/G] NM_002884,NM_001010935 RAP1A,RAP1A Silent,Silent rs7536042 1 112245587 [T/C] NM_002884,NM_001010935 RAP1A,RAP1A Silent,Silent variant.5606 1 112246098 [T/C] NM_002884,NM_001010935 RAP1A,RAP1A EXON Synonymous_D108D,Synonymous_D108D exm84013 1 112247098 [A/G] NM_002884,NM_001010935 RAP1A,RAP1A EXON Missense_N153S,Missense_N153S rs480578 1 112252461 [A/G] NM_002884,NM_001010935 RAP1A,RAP1A Silent,Silent 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 rs3754026 1 112283838 [T/C] NM_198926,NR_038951,NR_038952 FAM212B,LOC100506343,LOC100506343 Silent,Silent,Silent rs197394 1 112286309 [T/C] NM_198926,NR_038951,NR_038952 FAM212B,LOC100506343,LOC100506343 Silent,Silent,Silent rs197381 1 112292778 [T/G] NM_198926 FAM212B Silent exm84078 1 112298581 [T/C] NM_007204 DDX20 EXON Missense_A12V rs197392 1 112298582 [A/G] NM_007204 DDX20 EXON Synonymous_A12A exm84089 1 112298755 [T/C] NM_007204 DDX20 EXON Missense_S70L exm84100 1 112302035 [G/C] NM_007204 DDX20 EXON Missense_A137G rs538779 1 112302219 [A/G] NM_007204 DDX20 Silent exm84113 1 112303415 [C/G] NM_007204 DDX20 EXON Missense_K256N exm84120 1 112303720 [G/C] NM_007204 DDX20 EXON Missense_A312G indel.5614 1 112303726 [I/D] NM_007204 DDX20 EXON 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 newrs61744783 1 112308569 [A/C] NM_007204 DDX20 EXON Nonsense_S508X 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 rs197413 1 112308972 [A/G] NM_007204 DDX20 EXON Synonymous_V642V indel.5617 1 112309013 [I/D] NM_007204 DDX20 EXON var_1_112309023 1 112309023 [A/C] NM_007204 DDX20 EXON Nonsense_Y659X 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 rs85276 1 112309331 [T/C] NM_007204 DDX20 EXON Missense_I762T exm84191 1 112309437 [T/G] NM_007204 DDX20 EXON Missense_W797C var_1_112309444 1 112309444 [T/C] NM_007204 DDX20 EXON Nonsense_Q800X indel.5620 1 112318834 [D/I] NM_172198,NM_004980 KCND3,KCND3 EXON 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 rs3738298 1 112329551 [T/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs17028610 1 112349568 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs2788611 1 112356814 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent exm2265036 1 112362645 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs1471437 1 112364573 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs4839171 1 112369354 [A/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs11102342 1 112376121 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs475508 1 112385547 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent exm2264891 1 112385547 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs12044963 1 112392360 [T/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs652334 1 112403295 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs639622 1 112410433 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs11102350 1 112415201 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs1767283 1 112428953 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs17028976 1 112435325 [T/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs6697691 1 112436001 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs2798334 1 112437344 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs4838925 1 112440057 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs2034124 1 112451681 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs6682872 1 112462984 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs17029069 1 112464376 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs2000265 1 112474363 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs9429610 1 112478366 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs11578917 1 112488820 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs9429614 1 112489832 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs11102362 1 112496701 [T/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs6703437 1 112499034 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs7525808 1 112505519 [T/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs716954 1 112505892 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs3008538 1 112506564 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs17676657 1 112516275 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs1373286 1 112517914 [A/G] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent rs3008527 1 112523095 [T/C] NM_172198,NM_004980 KCND3,KCND3 Silent,Silent exm84253 1 112524708 [T/C] NM_172198,NM_004980 KCND3,KCND3 EXON Missense_K214R,Missense_K214R rs7513088 1 112538239 [A/C] NM_001270945 LOC643355 Silent exm-rs6681719 1 112538743 [A/G] NM_001270945 LOC643355 Silent rs6681719 1 112538743 [A/G] NM_001270945 LOC643355 Silent rs12562249 1 112555423 [A/G] rs391886 1 112569959 [T/C] rs183205 1 112574475 [A/G] rs174892 1 112590049 [T/G] rs10857922 1 112591009 [T/G] rs269079 1 112597532 [A/G] rs4839203 1 112604622 [T/C] rs10776740 1 112610318 [A/G] rs269130 1 112612821 [T/C] rs269131 1 112613028 [A/G] rs385768 1 112626237 [T/C] rs269101 1 112628860 [T/C] rs269094 1 112639174 [T/C] rs682489 1 112659363 [A/G] rs457071 1 112668457 [A/G] rs2083429 1 112671286 [T/G] rs155672 1 112707866 [A/C] rs10857934 1 112709285 [T/G] rs11102398 1 112712150 [T/C] rs10745326 1 112712847 [T/C] rs4292960 1 112723031 [T/C] rs2196887 1 112727458 [T/G] rs1856390 1 112731101 [T/C] rs12138691 1 112736898 [A/G] rs2807945 1 112741759 [A/G] rs2788407 1 112761639 [A/G] rs6537730 1 112773825 [A/G] rs6537731 1 112773948 [A/G] rs12033004 1 112779668 [A/G] rs2998359 1 112780618 [T/C] rs7520740 1 112787396 [A/G] rs7527003 1 112789288 [A/G] rs11102441 1 112793307 [T/G] rs11102446 1 112804559 [T/C] rs2998334 1 112815101 [A/G] rs6662678 1 112816851 [A/G] rs17029953 1 112822460 [A/G] rs3121992 1 112829454 [A/G] exm-rs7555668 1 112856570 [T/C] rs3128373 1 112858294 [T/C] rs3005774 1 112871321 [T/C] rs2995765 1 112886545 [T/C] rs1936050 1 112899446 [A/G] rs11804546 1 112901203 [A/G] rs6537736 1 112911324 [A/G] exm-rs2999471 1 112928036 [T/C] exm2263832 1 112930006 [A/C] rs2492501 1 112931256 [T/G] rs2488762 1 112939750 [T/C] NM_018704 CTTNBP2NL Silent rs2492506 1 112940944 [A/G] NM_018704 CTTNBP2NL Silent rs2492508 1 112941134 [A/G] NM_018704 CTTNBP2NL Silent rs11102472 1 112948319 [A/G] NM_018704 CTTNBP2NL Silent var_1_112958875 1 112958875 [A/G] NM_018704 CTTNBP2NL EXON Missense_E30K exm2263863 1 112973783 [A/C] NM_018704 CTTNBP2NL Silent rs2492530 1 112985270 [T/G] 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 variant.5623 1 112991789 [T/C] NM_018704 CTTNBP2NL EXON Nonsense_R109X rs1759691 1 112991881 [T/C] NM_018704 CTTNBP2NL Silent 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 rs1620668 1 113023980 [A/G] NM_004185 WNT2B Silent rs1777606 1 113028105 [A/G] NM_004185 WNT2B Silent indel.5627 1 113033703 [D/I] NM_004185 WNT2B EXON variant.5629 1 113033708 [A/G] NM_004185 WNT2B Silent rs351354 1 113038795 [A/G] NM_004185 WNT2B Silent rs351359 1 113040277 [A/G] NM_004185 WNT2B Silent rs351360 1 113040421 [T/C] NM_004185 WNT2B Silent 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 rs3790611 1 113067792 [A/G] NM_017744,NM_138727,NM_138728 ST7L,ST7L,ST7L EXON Silent,Silent,Silent exm84445 1 113068651 [T/C] NM_017744,NM_138727,NM_138728 ST7L,ST7L,ST7L EXON Missense_G571D,Missense_G554D,Missense_G540D exm1700857 1 113068652 [A/C] NM_017744,NM_138727,NM_138728 ST7L,ST7L,ST7L EXON Missense_G571C,Missense_G554C,Missense_G540C exm84446 1 113068676 [A/G] NM_017744,NM_138727,NM_138728 ST7L,ST7L,ST7L EXON Nonsense_Q563X,Nonsense_Q546X,Nonsense_Q532X newrs75947674 1 113068676 [A/G] NM_017744,NM_138727,NM_138728 ST7L,ST7L,ST7L EXON Nonsense_Q563X,Nonsense_Q546X,Nonsense_Q532X rs4838959 1 113085721 [A/C] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L Silent,Silent,Silent,Silent exm84454 1 113093246 [A/G] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_T489M,Missense_T472M,Silent,Missense_T489M exm1700905 1 113093294 [A/G] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_P473L,Missense_P456L,Silent,Missense_P473L exm84461 1 113098534 [T/C] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_R451Q,Missense_R434Q,Missense_R451Q,Missense_R451Q exm84467 1 113098598 [T/C] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_I430V,Missense_I413V,Missense_I430V,Missense_I430V exm84473 1 113119612 [A/G] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_P414L,Missense_P397L,Missense_P414L,Missense_P414L variant.5633 1 113120962 [T/C] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L Silent,Silent,Silent,Silent exm1700924 1 113120982 [A/C] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_R376M,Missense_R359M,Missense_R376M,Missense_R376M rs7554916 1 113123734 [A/C] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L Silent,Silent,Silent,Silent exm84482 1 113125080 [T/C] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_V291I,Missense_V274I,Missense_V291I,Missense_V291I exm84489 1 113126734 [T/C] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_Y239C,Missense_Y222C,Missense_Y239C,Missense_Y239C rs6671645 1 113129128 [A/G] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L Silent,Silent,Silent,Silent exm84492 1 113134192 [A/G] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_P219L,Missense_P202L,Missense_P219L,Missense_P219L rs12049572 1 113140583 [T/C] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L Silent,Silent,Silent,Silent exm84495 1 113140594 [T/C] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Synonymous_T207T,Synonymous_T190T,Synonymous_T207T,Synonymous_T207T exm84500 1 113143420 [T/C] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_R168G,Missense_R151G,Missense_R168G,Missense_R168G exm84501 1 113143441 [A/G] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_L161F,Missense_L144F,Missense_L161F,Missense_L161F indel.5634 1 113153575 [I/D] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON exm84509 1 113153580 [T/C] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_E112K,Missense_E95K,Missense_E112K,Missense_E112K exm84510 1 113153597 [T/C] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_H106R,Missense_H89R,Missense_H106R,Missense_H106R exm84511 1 113153619 [G/C] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_E99Q,Missense_E82Q,Missense_E99Q,Missense_E99Q exm84513 1 113159464 [A/T] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_T87S,Missense_T70S,Missense_T87S,Missense_T87S exm84517 1 113161534 [A/C] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_A68S,Missense_A68S,Missense_A68S,Missense_A68S exm84523 1 113161692 [A/G] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_A15V,Missense_A15V,Missense_A15V,Missense_A15V exm84525 1 113161699 [T/C] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_V13I,Missense_V13I,Missense_V13I,Missense_V13I exm84526 1 113161725 [T/C] NM_017744,NM_138727,NM_138728,NM_138729 ST7L,ST7L,ST7L,ST7L EXON Missense_R4H,Missense_R4H,Missense_R4H,Missense_R4H exm84527 1 113161727 [G/C] NM_017744,NM_138727,NM_138728,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 rs2932538 1 113216543 [A/G] exm84604 1 113232218 [C/G] NM_020963,NM_001130079 MOV10,MOV10 EXON Missense_P175A,Missense_P175A exm84609 1 113232587 [A/G] NM_020963,NM_001130079 MOV10,MOV10 EXON Missense_A235T,Missense_A235T exm84612 1 113232605 [A/G] NM_020963,NM_001130079 MOV10,MOV10 EXON Missense_V241I,Missense_V241I exm84622 1 113234345 [T/C] NM_020963,NM_001130079 MOV10,MOV10 EXON Missense_R299C,Missense_R299C exm84625 1 113234376 [A/G] NM_020963,NM_001130079 MOV10,MOV10 EXON Missense_Q309R,Missense_Q309R rs3748656 1 113236681 [T/C] NM_020963,NM_001130079 MOV10,MOV10 EXON Synonymous_G394G,Synonymous_G394G exm84648 1 113237212 [T/C] NM_020963,NM_001130079 MOV10,MOV10 EXON Missense_P478L,Missense_P478L exm84651 1 113237371 [A/G] NM_020963,NM_001130079 MOV10,MOV10 EXON Synonymous_K491K,Synonymous_K491K exm84674 1 113239422 [A/G] NM_020963,NM_001130079 MOV10,MOV10 EXON Missense_D718N,Missense_D718N exm84675 1 113239459 [A/G] NM_020963,NM_001130079 MOV10,MOV10 EXON Missense_R730H,Missense_R730H exm84683 1 113240711 [A/G] NM_020963,NM_001130079 MOV10,MOV10 EXON Missense_R765H,Missense_R765H indel.5644 1 113242887 [I/D] NM_020963,NM_001130079 MOV10,MOV10 EXON exm84708 1 113243071 [A/G] NM_020963,NM_001130079 MOV10,MOV10 EXON Missense_R985Q,Missense_R985Q exm84713 1 113244187 [T/C] NM_175744,NM_001042678,NM_001042679 RHOC,RHOC,RHOC EXON Missense_R186H,Missense_R186H,Missense_R186H exm84718 1 113244301 [A/G] NM_175744,NM_001042678,NM_001042679 RHOC,RHOC,RHOC EXON Missense_A148V,Missense_A148V,Missense_A148V exm1701107 1 113246274 [T/C] NM_175744,NM_001042678,NM_001042679 RHOC,RHOC,RHOC EXON Missense_G50S,Missense_G50S,Missense_G50S indel.5648 1 113246424 [D/I] NM_175744,NM_001042678,NM_001042679 RHOC,RHOC,RHOC EXON variant.5649 1 113246429 [A/C] NM_175744,NM_001042678,NM_001042679 RHOC,RHOC,RHOC Silent,Silent,Silent rs12144044 1 113248791 [A/C] NM_175744,NM_001042678,NM_001042679 RHOC,RHOC,RHOC Silent,Silent,Silent 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 newrs147305772 1 113253230 [A/G] NM_005167 PPM1J EXON Nonsense_R408X 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 rs4450019 1 113263711 [T/C] NM_182759,NM_001004440 FAM19A3,FAM19A3 Silent,Silent 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 rs11102524 1 113268225 [T/C] NM_182759,NM_001004440 FAM19A3,FAM19A3 Silent,Silent variant.5673 1 113269257 [T/C] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Nonsense_R133X,Synonymous_H155H exm84840 1 113269294 [T/C] NM_182759,NM_001004440 FAM19A3,FAM19A3 EXON Silent,Missense_L168F rs6537754 1 113278651 [T/C] rs12402272 1 113284079 [T/C] rs4534375 1 113286780 [T/C] rs7553091 1 113293449 [A/G] exm-rs11590090 1 113313563 [A/C] rs4378202 1 113331134 [T/C] rs4385708 1 113331258 [T/C] rs6681499 1 113336905 [A/C] rs10857978 1 113338649 [T/C] rs4838967 1 113345279 [T/G] rs6688787 1 113376527 [A/G] rs7539948 1 113384015 [A/G] rs7527283 1 113390844 [A/G] rs12090523 1 113391029 [T/G] rs6694556 1 113411279 [A/G] rs2996294 1 113416122 [A/C] rs11102559 1 113426308 [T/C] rs1539624 1 113431786 [A/G] rs9429503 1 113439588 [T/C] rs12037621 1 113449627 [A/G] rs9429505 1 113454571 [A/G] NM_003051,NM_001166496 SLC16A1,SLC16A1 EXON Silent,Silent kgp25201193 1 113454889 [T/C] NM_003051,NM_001166496 SLC16A1,SLC16A1 EXON Silent,Silent kgp6869268 1 113455099 [A/G] NM_003051,NM_001166496 SLC16A1,SLC16A1 EXON Silent,Silent kgp25136468 1 113455243 [T/C] NM_003051,NM_001166496 SLC16A1,SLC16A1 EXON Silent,Silent 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 kgp15400962 1 113460026 [T/C] NM_003051,NM_001166496 SLC16A1,SLC16A1 EXON Synonymous_A334A,Synonymous_A334A 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 kgp15732350 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 kgp15764545 1 113466486 [T/C] NM_003051,NM_001166496,NR_002796 SLC16A1,SLC16A1,AKR7A2P1 EXON Silent,Silent,Silent kgp25238847 1 113466571 [A/G] NM_003051,NM_001166496,NR_002796 SLC16A1,SLC16A1,AKR7A2P1 EXON Silent,Silent,Silent rs7512840 1 113489921 [A/C] NM_003051,NM_001166496 SLC16A1,SLC16A1 Silent,Silent rs6537765 1 113493337 [A/G] NM_003051,NM_001166496 SLC16A1,SLC16A1 Silent,Silent rs4839272 1 113496790 [A/G] NM_003051,NM_001166496 SLC16A1,SLC16A1 Silent,Silent kgp6470243 1 113498070 [G/C] NM_003051,NM_001166496 SLC16A1,SLC16A1 EXON Silent,Silent rs4839273 1 113502552 [A/C] rs2798691 1 113579103 [T/C] rs1216766 1 113597564 [A/G] rs2798686 1 113601445 [A/C] exm1701651 1 113616048 [C/G] NM_014813 LRIG2 EXON Missense_G7A var_1_113616059 1 113616059 [T/G] NM_014813 LRIG2 EXON Nonsense_E11X variant.5678 1 113633998 [T/C] NM_014813 LRIG2 EXON Nonsense_Q100X indel.5679 1 113636098 [I/D] NM_014813 LRIG2 EXON exm84917 1 113636134 [T/A] NM_014813 LRIG2 EXON Missense_I155L rs6688685 1 113636160 [A/G] NM_014813 LRIG2 EXON Synonymous_S163S 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 indel.5684 1 113655198 [D/I] NM_014813 LRIG2 EXON exm2273678 1 113655259 [A/G] NM_014813 LRIG2 EXON Missense_V653I exm1701686 1 113655293 [A/G] NM_014813 LRIG2 EXON Missense_N664S rs1216793 1 113657092 [A/C] NM_014813 LRIG2 EXON Synonymous_T708T 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 variant.5687 1 113657474 [T/G] NM_014813 LRIG2 EXON Nonsense_E836X indel.5688 1 113658909 [I/D] NM_014813 LRIG2 EXON exm85004 1 113658932 [T/A] NM_014813 LRIG2 EXON Missense_I852F exm85005 1 113658942 [A/G] NM_014813 LRIG2 EXON Missense_Y855C variant.5689 1 113659010 [T/C] NM_014813 LRIG2 EXON Nonsense_Q878X exm85009 1 113659023 [T/C] NM_014813 LRIG2 EXON Missense_P882L exm85015 1 113661918 [T/C] NM_014813 LRIG2 EXON Missense_T915I variant.5690 1 113661920 [T/C] NM_014813 LRIG2 EXON Nonsense_R916X 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 kgp1557674 1 113667837 [T/G] rs10494150 1 113668344 [A/G] rs946218 1 113721397 [A/G] rs1216878 1 113728629 [A/G] rs7526767 1 113759903 [T/C] rs11102602 1 113770426 [T/C] rs12129538 1 113771607 [A/C] rs6696679 1 113772733 [T/G] rs11102603 1 113784170 [A/G] rs1886503 1 113789136 [T/C] rs773618 1 113791338 [A/G] rs773573 1 113818120 [A/G] exm2268740 1 113822284 [T/C] rs773564 1 113824297 [T/C] exm-rs773564 1 113824297 [T/C] rs773554 1 113830085 [T/C] rs699670 1 113834428 [A/G] rs773586 1 113841736 [A/G] rs12740908 1 113843501 [A/C] rs4839306 1 113849470 [T/C] rs1342653 1 113865048 [T/C] rs4839312 1 113876419 [T/C] rs10494155 1 113890470 [T/C] rs6664279 1 113914023 [A/C] rs10218568 1 113925870 [A/G] 1KG_1_113933669 1 113933669 [I/D] NM_001142782,NM_152900 MAGI3,MAGI3 EXON exm85043 1 113933675 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_K7R,Missense_K7R rs1342650 1 113934304 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent rs12023641 1 113951107 [A/C] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent rs11102627 1 113959886 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent rs1936930 1 113971051 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent kgp1883481 1 113972547 [T/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent rs2153977 1 114080071 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent rs7554019 1 114085723 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent variant.5692 1 114092211 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Nonsense_Q131X,Nonsense_Q131X variant.5693 1 114092254 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent rs1343630 1 114105855 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent exm85087 1 114128161 [G/C] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_L236V,Missense_L236V rs1113523 1 114129474 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent exm85095 1 114133195 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_Y285H,Missense_Y285H rs1235000 1 114134025 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent rs4838994 1 114151606 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent exm85103 1 114165485 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_R410Q,Missense_R410Q rs6669008 1 114166561 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent exm85115 1 114184827 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_G552D,Missense_G552D rs1777237 1 114187371 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent exm85136 1 114189263 [A/T] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_K718N,Missense_K718N variant.5696 1 114189265 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent 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 rs17274634 1 114217527 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent rs7522138 1 114217705 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 Silent,Silent exm85185 1 114225614 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_E1142K,Silent indel.5697 1 114225645 [D/I] NM_001142782,NM_152900 MAGI3,MAGI3 EXON indel.5698 1 114225649 [I/D] NM_001142782,NM_152900 MAGI3,MAGI3 EXON variant.5700 1 114226027 [A/C] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Nonsense_C1279X,Silent exm85194 1 114226143 [A/G] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_G1318D,Silent indel.5701 1 114226505 [I/D] NM_001142782,NM_152900 MAGI3,MAGI3 EXON exm85203 1 114226527 [T/C] NM_001142782,NM_152900 MAGI3,MAGI3 EXON Missense_P1446L,Silent variant.5705 1 114243411 [A/G] NM_006608 PHTF1 Silent rs1111695 1 114243899 [A/C] NM_006608 PHTF1 Silent indel.5707 1 114246690 [I/D] NM_006608 PHTF1 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 indel.5712 1 114248589 [D/I] NM_006608 PHTF1 EXON indel.5713 1 114248636 [I/D] NM_006608 PHTF1 EXON exm85245 1 114248691 [A/G] NM_006608 PHTF1 EXON Missense_R498C exm85248 1 114248781 [A/T] NM_006608 PHTF1 EXON Missense_N468Y newrs145541451 1 114249302 [A/G] NM_006608 PHTF1 EXON Nonsense_R438X var_1_114252871 1 114252871 [T/C] NM_006608 PHTF1 Silent exm85259 1 114252968 [A/G] NM_006608 PHTF1 EXON Missense_R393W variant.5718 1 114253067 [A/G] NM_006608 PHTF1 EXON Nonsense_R360X exm85267 1 114254442 [T/C] NM_006608 PHTF1 EXON Missense_T325A exm85271 1 114254650 [A/G] NM_006608 PHTF1 EXON Missense_L290S indel.5719 1 114255942 [I/D] NM_006608 PHTF1 EXON variant.5720 1 114255969 [A/G] NM_006608 PHTF1 EXON Nonsense_R239X exm85279 1 114255975 [T/G] NM_006608 PHTF1 EXON Missense_Q237K exm85288 1 114267508 [A/G] NM_006608 PHTF1 EXON Nonsense_R166X indel.5721 1 114269040 [I/D] NM_006608 PHTF1 EXON indel.5723 1 114269081 [I/D] NM_006608 PHTF1 EXON 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 rs10858017 1 114287902 [A/G] NM_006608 PHTF1 Silent 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 rs2040041 1 114312623 [T/C] NM_018364 RSBN1 Silent rs3789600 1 114334222 [T/C] NM_018364 RSBN1 Silent exm85349 1 114340502 [T/C] NM_018364 RSBN1 EXON Missense_R287H exm1701905 1 114354433 [T/C] NM_018364 RSBN1 EXON Missense_D201G rs3195954 1 114354654 [T/C] NM_018364 RSBN1 EXON Synonymous_P127P exm2249696 1 114354942 [T/G] NM_018364 RSBN1 EXON Synonymous_R31R exm85395 1 114362278 [T/G] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 Silent,Silent,Silent exm85396 1 114367763 [T/C] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 Silent,Silent,Silent exm85399 1 114367793 [T/C] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_S751N,Missense_S723N,Missense_S696N exm85400 1 114372214 [G/C] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_K750N,Missense_K722N,Missense_K695N exm85401 1 114372222 [T/C] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_R748G,Missense_R720G,Missense_R693G variant.5731 1 114372570 [A/C] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 Silent,Silent,Silent indel.5732 1 114372599 [I/D] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON exm85413 1 114375747 [T/C] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_R680Q,Missense_R652Q,Missense_R625Q exm85421 1 114377035 [A/G] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_S641P,Missense_S641P,Missense_S586P exm85425 1 114377561 [C/G] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_P622R,Missense_P622R,Missense_P567R exm85426 1 114377567 [T/C] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Nonsense_W620X,Nonsense_W620X,Nonsense_W565X exm85427 1 114377568 [A/G] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_W620R,Missense_W620R,Missense_W565R rs2476601 1 114377568 [A/G] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_W620R,Missense_W620R,Missense_W565R exm85429 1 114377610 [A/C] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_A606S,Missense_A606S,Missense_A551S exm85434 1 114380280 [T/C] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_H581R,Missense_H581R,Missense_H526R exm85438 1 114380395 [T/C] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_S543G,Missense_S543G,Missense_S488G exm85439 1 114380439 [T/C] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_Y528C,Missense_Y528C,Missense_Y473C exm85442 1 114380493 [T/C] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_R510H,Missense_R510H,Missense_R455H exm85449 1 114380656 [G/C] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_Q456E,Missense_Q456E,Missense_Q401E exm85453 1 114380886 [T/C] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_D379G,Missense_D379G,Missense_D324G exm85455 1 114380914 [T/G] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_H370N,Missense_H370N,Missense_H315N exm85457 1 114380944 [T/C] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_E360K,Missense_E360K,Missense_E305K exm85460 1 114381181 [A/G] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_P326L,Missense_P326L,Missense_P271L exm2249697 1 114391219 [T/C] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Synonymous_V286V,Synonymous_V286V,Silent exm85468 1 114394689 [T/C] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_R263Q,Missense_R263Q,Silent exm85469 1 114394690 [A/G] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_R263W,Missense_R263W,Silent exm85488 1 114399229 [A/G] NM_015967,NM_001193431,NM_012411 PTPN22,PTPN22,PTPN22 EXON Missense_R141C,Missense_R141C,Missense_R141C newrs140976677 1 114401115 [T/C] NM_015967,NM_001193431,NM_012411,NR_037864 PTPN22,PTPN22,PTPN22,AP4B1-AS1 EXON Nonsense_W118X,Nonsense_W118X,Nonsense_W118X,Silent exm85493 1 114401662 [T/C] NM_015967,NM_001193431,NM_012411,NR_037864 PTPN22,PTPN22,PTPN22,AP4B1-AS1 EXON Missense_D79N,Missense_D79N,Missense_D79N,Silent exm85500 1 114414169 [T/C] NM_015967,NM_001193431,NM_012411,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 var_1_114423727 1 114423727 [A/G] 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 variant.5747 1 114424621 [T/C] NR_037864,NM_001010922 AP4B1-AS1,BCL2L15 Silent,Silent variant.5748 1 114429159 [T/C] NR_037864,NM_001010922 AP4B1-AS1,BCL2L15 EXON Silent,Synonymous_Q83Q 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 rs2358994 1 114429461 [A/G] NR_037864,NM_001010922 AP4B1-AS1,BCL2L15 Silent,Silent indel.5750 1 114429981 [D/I] NR_037864,NM_001010922 AP4B1-AS1,BCL2L15 EXON rs1539438 1 114430356 [T/C] NR_037864 AP4B1-AS1 Silent rs10745340 1 114436970 [T/C] NR_037864 AP4B1-AS1 Silent exm2273679 1 114437707 [T/C] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_I635V,Missense_I734V,Missense_I734V exm85540 1 114438064 [A/C] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_S516A,Missense_S615A,Missense_S615A exm85544 1 114438448 [T/C] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_I476V,Missense_I575V,Missense_I575V exm1701974 1 114438613 [A/G] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_R421C,Missense_R520C,Missense_R520C exm85551 1 114438882 [A/G] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_I404T,Missense_I503T,Missense_I503T exm85556 1 114438951 [A/G] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_L381S,Missense_L480S,Missense_L480S rs1217401 1 114438951 [A/G] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_L381S,Missense_L480S,Missense_L480S exm85570 1 114440547 [T/C] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_R307Q,Missense_R406Q,Missense_R406Q variant.5755 1 114440613 [T/C] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 Silent,Silent,Silent,Silent exm85573 1 114441349 [T/C] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_I298V,Missense_I397V,Missense_I397V variant.5756 1 114441361 [A/G] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Nonsense_R294X,Nonsense_R393X,Nonsense_R393X indel.5758 1 114441387 [I/D] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON exm85582 1 114442583 [A/G] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Nonsense_R254X,Nonsense_R353X,Nonsense_R353X variant.5760 1 114442604 [A/G] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Nonsense_Q247X,Nonsense_Q346X,Nonsense_Q346X exm1701980 1 114442672 [A/G] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_S224L,Missense_S323L,Missense_S323L exm85584 1 114442673 [T/A] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_S224T,Missense_S323T,Missense_S323T indel.5761 1 114442682 [I/D] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON exm85589 1 114442742 [A/C] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_V201L,Missense_V300L,Missense_V300L exm1701981 1 114442837 [T/C] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_H169R,Missense_H268R,Missense_H268R exm85596 1 114442873 [A/G] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_T157I,Missense_T256I,Missense_T256I exm85597 1 114442885 [A/G] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_V153A,Missense_V252A,Missense_V252A variant.5762 1 114442891 [T/C] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_G151D,Missense_G250D,Missense_G250D indel.5764 1 114442977 [I/D] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON newrs149705131 1 114443858 [T/C] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Missense_R107Q,Missense_R206Q,Missense_R206Q variant.5766 1 114443859 [A/G] NR_037864,NM_001253853,NM_001253852,NM_006594 AP4B1-AS1,AP4B1,AP4B1,AP4B1 EXON Silent,Nonsense_R107X,Nonsense_R206X,Nonsense_R206X exm85617 1 114444457 [T/C] NM_001253853,NM_001253852,NM_006594 AP4B1,AP4B1,AP4B1 EXON Missense_R31Q,Missense_R130Q,Missense_R130Q exm85619 1 114444488 [A/T] NM_001253853,NM_001253852,NM_006594 AP4B1,AP4B1,AP4B1 EXON Missense_Y21N,Missense_Y120N,Missense_Y120N exm1701992 1 114445447 [T/G] NM_001253853,NM_001253852,NM_006594 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 variant.5770 1 114450639 [T/C] NM_022836 DCLRE1B EXON Nonsense_R122X newrs150374247 1 114450747 [T/C] NM_022836 DCLRE1B EXON Nonsense_R158X 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 indel.5772 1 114454280 [D/I] NM_022836 DCLRE1B EXON 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 rs10858024 1 114457769 [A/C] rs7519860 1 114482520 [A/G] NM_198268,NM_152696 HIPK1,HIPK1 Silent,Silent rs4381184 1 114489769 [A/C] NM_198268,NM_152696 HIPK1,HIPK1 Silent,Silent rs11102707 1 114493583 [A/G] NM_198268,NM_152696 HIPK1,HIPK1 Silent,Silent exm85737 1 114497331 [G/C] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_T420R,Missense_T420R,Missense_T46R,Missense_T26R exm1702052 1 114499261 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_T474A,Missense_T474A,Missense_T100A,Missense_T80A exm85752 1 114504990 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_N678S,Missense_N678S,Missense_N304S,Missense_N284S exm85771 1 114508845 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_A778T,Missense_A778T,Missense_A404T,Missense_A384T exm85773 1 114508867 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_G785E,Missense_G785E,Missense_G411E,Missense_G391E exm85778 1 114510534 [T/C] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_S843L,Missense_S843L,Missense_S469L,Missense_S449L exm85781 1 114511201 [G/C] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_P901R,Missense_P901R,Missense_P527R,Missense_P507R exm1702079 1 114512582 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_G926R,Missense_G926R,Missense_G552R,Missense_G532R exm85782 1 114512613 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_Y936C,Missense_Y936C,Missense_Y562C,Missense_Y542C exm85790 1 114512744 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_T980A,Missense_T980A,Missense_T606A,Missense_T586A exm85795 1 114514475 [A/G] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_A1015T,Missense_A1015T,Missense_A641T,Missense_A621T exm85796 1 114514530 [T/C] NM_198268,NM_152696,NM_198269,NM_181358 HIPK1,HIPK1,HIPK1,HIPK1 EXON Missense_A1033V,Missense_A1033V,Missense_A659V,Missense_A639V exm85798 1 114514536 [A/G] NM_198268,NM_152696,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 indel.5779 1 114524376 [I/D] NM_020190 OLFML3 EXON rs3006988 1 114527420 [T/C] rs1995483 1 114533498 [A/G] rs3006977 1 114539586 [A/G] rs12402202 1 114541955 [A/C] rs2938337 1 114585077 [T/C] rs2938321 1 114587447 [A/G] rs11102724 1 114596480 [T/C] rs950779 1 114602971 [T/G] rs496267 1 114616228 [A/C] rs10494166 1 114635370 [A/G] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent exm85896 1 114640393 [T/C] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_A406T,Missense_A406T exm85897 1 114640404 [T/C] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R402Q,Missense_R402Q exm85900 1 114640468 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R381C,Missense_R381C newrs149899868 1 114641717 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Nonsense_R370X,Nonsense_R370X rs6537810 1 114642562 [A/G] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs750906 1 114646763 [T/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs745392 1 114648547 [A/G] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs729300 1 114649247 [T/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs676715 1 114653675 [A/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs552581 1 114659327 [T/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs588983 1 114659419 [T/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs12027243 1 114664584 [T/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs6683573 1 114665586 [A/G] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs7546417 1 114668299 [A/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs670495 1 114675629 [A/G] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs901137 1 114679068 [T/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent exm1702213 1 114680217 [T/C] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R239H,Missense_R239H exm85914 1 114680218 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R239C,Missense_R239C exm85919 1 114680310 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_T208I,Missense_T208I exm85923 1 114680329 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R202C,Missense_R202C exm2230842 1 114680359 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R192C,Missense_R192C exm85926 1 114680396 [T/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_S179R,Missense_S179R exm85929 1 114680442 [T/C] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R164H,Missense_R164H exm85932 1 114680475 [T/C] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R153H,Missense_R153H rs17032441 1 114680540 [T/C] NM_205848,NM_001270805 SYT6,SYT6 EXON Synonymous_S131S,Synonymous_S131S exm85950 1 114682286 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_R70C,Missense_R70C exm2230844 1 114682407 [T/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_N29K,Missense_N29K exm85957 1 114682424 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_P24S,Missense_P24S exm85958 1 114682425 [G/C] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_S23R,Missense_S23R exm85959 1 114682445 [A/G] NM_205848,NM_001270805 SYT6,SYT6 EXON Missense_P17S,Missense_P17S rs1119040 1 114684419 [A/G] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs2629824 1 114687316 [A/G] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs6687460 1 114690985 [T/C] NM_205848,NM_001270805 SYT6,SYT6 Silent,Silent rs2629821 1 114703427 [A/G] rs2150203 1 114706770 [T/C] rs497304 1 114709317 [T/G] exm-rs2774292 1 114715584 [A/G] exm2249700 1 114720018 [A/G] rs4839004 1 114733635 [A/G] rs430928 1 114741351 [A/G] rs1028574 1 114743352 [T/C] rs768566 1 114749081 [T/C] rs6537816 1 114750905 [A/G] rs1385665 1 114753083 [T/C] rs12068395 1 114754578 [A/G] rs1485594 1 114762107 [A/G] rs10776781 1 114766687 [A/G] rs7550248 1 114773981 [T/C] rs6670053 1 114780835 [T/C] rs169720 1 114790954 [A/G] rs416908 1 114795885 [T/C] rs11589933 1 114807559 [A/C] rs6664266 1 114818994 [T/C] rs11588687 1 114833410 [T/C] rs6689069 1 114857644 [A/G] rs11102782 1 114878783 [T/C] rs1535035 1 114888412 [T/G] rs516610 1 114894805 [A/C] rs556765 1 114900678 [T/C] rs12753188 1 114920097 [T/C] 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 rs12083584 1 114973429 [T/C] NM_033020,NM_015906 TRIM33,TRIM33 EXON Synonymous_Q382Q,Synonymous_Q382Q rs11585926 1 114973690 [T/C] NM_033020,NM_015906 TRIM33,TRIM33 Silent,Silent exm86047 1 115006983 [T/C] NM_033020,NM_015906 TRIM33,TRIM33 EXON Missense_R185H,Missense_R185H rs3827735 1 115052708 [A/C] NM_033020,NM_015906 TRIM33,TRIM33 Silent,Silent rs11102807 1 115061584 [A/G] rs10858046 1 115073780 [T/C] variant.5785 1 115119310 [A/G] NM_005872 BCAS2 EXON Nonsense_R86X variant.5788 1 115130004 [T/G] NM_001256404,NM_198459 DENND2C,DENND2C Silent,Silent exm86091 1 115130363 [T/C] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_R881Q,Missense_R824Q indel.5789 1 115130460 [I/D] NM_001256404,NM_198459 DENND2C,DENND2C EXON exm86100 1 115130508 [A/G] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_Y833H,Missense_Y776H rs222495 1 115136771 [A/G] NM_001256404,NM_198459 DENND2C,DENND2C Silent,Silent exm86106 1 115138455 [T/C] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_E775K,Missense_E718K variant.5790 1 115141915 [A/G] NM_001256404,NM_198459 DENND2C,DENND2C EXON Nonsense_Q755X,Nonsense_Q698X exm86109 1 115141989 [A/G] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_A730V,Missense_A673V indel.5791 1 115142073 [I/D] NM_001256404,NM_198459 DENND2C,DENND2C exm86111 1 115142823 [A/G] NM_001256404,NM_198459 DENND2C,DENND2C Silent,Silent exm86115 1 115142870 [A/G] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_S687F,Missense_S630F exm86121 1 115143520 [T/C] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_R626Q,Missense_R569Q exm86132 1 115144142 [T/C] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_N601S,Missense_N544S exm86140 1 115144789 [T/C] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_G565D,Missense_G508D rs222499 1 115146488 [A/C] NM_001256404,NM_198459 DENND2C,DENND2C Silent,Silent exm86150 1 115151482 [T/C] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_R461H,Missense_R404H exm86151 1 115151492 [G/C] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_R458G,Missense_R401G rs11102824 1 115152814 [T/C] NM_001256404,NM_198459 DENND2C,DENND2C Silent,Silent variant.5795 1 115153693 [T/C] NM_001256404,NM_198459 DENND2C,DENND2C Silent,Silent exm86159 1 115161015 [A/G] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_P439L,Missense_P382L exm86172 1 115166128 [A/G] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_Y315H,Missense_Y315H exm86173 1 115166137 [T/C] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_D312N,Missense_D312N variant.5799 1 115166161 [A/G] NM_001256404,NM_198459 DENND2C,DENND2C EXON Nonsense_Q304X,Nonsense_Q304X newrs141326167 1 115167800 [T/C] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_R269K,Missense_R269K exm86189 1 115167939 [A/G] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_S223P,Missense_S223P exm86192 1 115167999 [T/A] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_C203S,Missense_C203S exm86196 1 115168068 [A/C] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_V180F,Missense_V180F exm86197 1 115168097 [T/C] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_D170G,Missense_D170G rs12136548 1 115168097 [T/C] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_D170G,Missense_D170G exm86199 1 115168119 [A/T] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_N163Y,Missense_N163Y exm86200 1 115168143 [T/C] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_A155T,Missense_A155T exm86204 1 115168226 [T/C] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_C127Y,Missense_C127Y exm86208 1 115168303 [T/G] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_E101D,Missense_E101D exm86216 1 115168440 [T/G] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_I56L,Missense_I56L exm86217 1 115168466 [T/C] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_G47E,Missense_G47E exm86218 1 115168480 [A/C] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_C42W,Missense_C42W indel.5804 1 115168566 [I/D] NM_001256404,NM_198459 DENND2C,DENND2C EXON exm86220 1 115168586 [T/C] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_R7H,Missense_R7H exm86221 1 115168600 [T/A] NM_001256404,NM_198459 DENND2C,DENND2C EXON Missense_D2E,Missense_D2E exm86226 1 115215796 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_R757H,Missense_R761H exm86228 1 115215833 [A/G] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_R745W,Missense_R749W exm86234 1 115216359 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_M691I,Missense_M695I exm86235 1 115216529 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 Silent,Silent exm86245 1 115217379 [T/A] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_L627F,Missense_L631F variant.5805 1 115217465 [A/G] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Nonsense_R599X,Nonsense_R603X exm86258 1 115218613 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_R496H,Missense_R500H variant.5807 1 115219967 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 Silent,Silent exm86274 1 115220593 [A/G] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_R417W,Missense_R421W exm86283 1 115221075 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_Q353R,Missense_Q357R exm86287 1 115221116 [A/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_M339I,Missense_M343I newrs143235944 1 115222223 [A/G] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Nonsense_R321X,Nonsense_R325X exm86292 1 115222237 [A/T] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_K316I,Missense_K320I exm86301 1 115222959 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_K259E,Missense_K263E indel.5816 1 115223101 [I/D] NM_001172626,NM_000036 AMPD1,AMPD1 exm86310 1 115226855 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_G200D,Missense_G204D newrs139582106 1 115226899 [A/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_Q185H,Missense_Q189H exm86318 1 115226973 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_D161N,Missense_D165N exm86319 1 115229365 [C/G] NM_001172626,NM_000036 AMPD1,AMPD1 Silent,Silent exm86320 1 115229413 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_V141M,Missense_V145M exm86324 1 115229512 [A/G] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_R108W,Missense_R112W exm86325 1 115229523 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_R104H,Missense_R108H exm86327 1 115231197 [A/G] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_S96F,Missense_S100F exm86332 1 115231254 [A/G] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Missense_P77L,Missense_P81L var_1_115231365 1 115231366 [D/I] NM_001172626,NM_000036 AMPD1,AMPD1 exm86344 1 115236056 [T/C] NM_001172626,NM_000036 AMPD1,AMPD1 Silent,Silent exm86345 1 115236057 [A/G] NM_001172626,NM_000036 AMPD1,AMPD1 EXON Silent,Nonsense_Q45X indel.5824 1 115238151 [D/I] NM_001172626,NM_000036 AMPD1,AMPD1 EXON rs6667218 1 115238982 [A/G] rs926938 1 115239816 [A/G] 1KG_1_115258741 1 115258741 [D/I] NM_002524 NRAS EXON exm2273331 1 115260781 [T/G] NM_001007553,NM_001242891,NM_007158,NM_001130523,NM_001242892,NM_001242893 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm86367 1 115260809 [T/G] NM_001007553,NM_001242891,NM_007158,NM_001130523,NM_001242892,NM_001242893 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Missense_Q793P,Missense_Q839P,Missense_Q762P,Missense_Q808P,Missense_Q793P,Missense_Q762P exm86378 1 115262319 [A/G] NM_001007553,NM_001242891,NM_007158,NM_001130523,NM_001242892,NM_001242893 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_F699F,Synonymous_F745F,Synonymous_F668F,Synonymous_F714F,Synonymous_F699F,Synonymous_F668F exm86387 1 115263247 [T/C] NM_001007553,NM_001242891,NM_007158,NM_001130523,NM_001242892,NM_001242893 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_Q655Q,Synonymous_Q701Q,Synonymous_Q624Q,Synonymous_Q670Q,Synonymous_Q655Q,Synonymous_Q624Q exm86392 1 115266559 [T/C] NM_001007553,NM_001242891,NM_007158,NM_001130523,NM_001242892,NM_001242893 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_R606R,Synonymous_R652R,Synonymous_R575R,Synonymous_R621R,Synonymous_R606R,Synonymous_R575R exm86402 1 115268944 [A/G] NM_001007553,NM_001242891,NM_007158,NM_001130523,NM_001242892,NM_001242893 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_L510L,Synonymous_L556L,Synonymous_L479L,Synonymous_L525L,Synonymous_L510L,Synonymous_L479L variant.5825 1 115269713 [T/C] NM_001007553,NM_001242891,NM_007158,NM_001130523,NM_001242892,NM_001242893 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 Silent,Silent,Silent,Silent,Silent,Silent exm86411 1 115272916 [T/C] NM_001007553,NM_001242891,NM_007158,NM_001130523,NM_001242892,NM_001242893 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Missense_N440S,Missense_N486S,Missense_N409S,Missense_N455S,Missense_N440S,Missense_N409S exm86421 1 115273144 [T/C] NM_001007553,NM_001242891,NM_007158,NM_001130523,NM_001242892,NM_001242893 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_E392E,Synonymous_E438E,Synonymous_E361E,Synonymous_E407E,Synonymous_E392E,Synonymous_E361E exm86428 1 115275363 [T/C] NM_001007553,NM_001242891,NM_007158,NM_001130523,NM_001242892,NM_001242893 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_T304T,Synonymous_T350T,Synonymous_T273T,Synonymous_T319T,Synonymous_T304T,Synonymous_T273T exm86435 1 115277136 [A/G] NM_001007553,NM_001242891,NM_007158,NM_001130523,NM_001242892,NM_001242893 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Missense_A170V,Missense_A216V,Missense_A139V,Missense_A185V,Missense_A170V,Missense_A139V exm86441 1 115280587 [T/G] NM_001007553,NM_001242891,NM_007158,NM_001130523,NM_001242892,NM_001242893 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 EXON Synonymous_G102G,Synonymous_G148G,Synonymous_G102G,Synonymous_G148G,Synonymous_G102G,Synonymous_G102G rs10489526 1 115293527 [A/C] NM_001007553,NM_001242891,NM_007158,NM_001130523,NM_001242892,NM_001242893 CSDE1,CSDE1,CSDE1,CSDE1,CSDE1,CSDE1 Silent,Silent,Silent,Silent,Silent,Silent rs6681671 1 115300685 [T/C] exm1702572 1 115316921 [T/C] NM_001102396,NR_049742,NR_049741,NM_025073 SIKE1,SIKE1,SIKE1,SIKE1 EXON Missense_M203V,Silent,Silent,Missense_M199V exm86481 1 115323219 [T/C] NM_001102396,NR_049742,NR_049741,NM_025073 SIKE1,SIKE1,SIKE1,SIKE1 EXON Missense_T4A,Silent,Silent,Missense_T4A rs2377415 1 115342465 [A/G] rs3126218 1 115348476 [T/C] rs3126216 1 115372525 [A/G] rs869990 1 115379614 [A/G] 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 rs6661511 1 115437986 [A/G] NM_003176 SYCP1 Silent exm1702622 1 115453062 [T/G] NM_003176 SYCP1 EXON Missense_K455N indel.5829 1 115453123 [D/I] NM_003176 SYCP1 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 rs360589 1 115470852 [T/C] NM_003176 SYCP1 Silent 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 rs360675 1 115490918 [T/C] NM_003176 SYCP1 Silent 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 rs11084 1 115537933 [A/G] NM_003176 SYCP1 EXON Silent rs1575067 1 115563866 [A/G] rs1575070 1 115567885 [T/C] rs1321109 1 115571916 [A/G] rs11102875 1 115575715 [A/G] NM_000549 TSHB Silent var_1_115576150 1 115576150 [A/G] NM_000549 TSHB Silent newrs121918670 1 115576636 [T/C] NM_000549 TSHB EXON Nonsense_Q69X indel.5839 1 115576674 [D/I] NM_000549 TSHB EXON exm86608 1 115576727 [T/C] NM_000549 TSHB EXON Missense_V99A indel.5840 1 115576804 [I/D] NM_000549 TSHB EXON rs3738706 1 115592820 [T/C] NM_005725 TSPAN2 EXON Silent exm86619 1 115593151 [A/G] NM_005725 TSPAN2 EXON Missense_V209A exm86620 1 115593158 [T/A] NM_005725 TSPAN2 EXON Missense_S207C rs12026930 1 115597836 [A/G] NM_005725 TSPAN2 Silent newrs151099839 1 115600157 [A/C] NM_005725 TSPAN2 Silent exm86630 1 115601504 [T/C] NM_005725 TSPAN2 EXON Synonymous_T148T exm86633 1 115601595 [A/C] NM_005725 TSPAN2 EXON Missense_R118L variant.5843 1 115601596 [A/G] NM_005725 TSPAN2 EXON Nonsense_R118X rs7526323 1 115604241 [A/G] NM_005725 TSPAN2 Silent exm86640 1 115604804 [T/G] NM_005725 TSPAN2 EXON Missense_F74L rs4839407 1 115605646 [T/C] NM_005725 TSPAN2 Silent rs717275 1 115610091 [T/C] NM_005725 TSPAN2 Silent exm86650 1 115615583 [G/C] NM_005725 TSPAN2 EXON Missense_G39R rs1286364 1 115617406 [A/G] NM_005725 TSPAN2 Silent rs4839411 1 115618813 [T/C] NM_005725 TSPAN2 Silent rs4475751 1 115622283 [A/G] NM_005725 TSPAN2 Silent rs2144549 1 115625348 [T/C] NM_005725 TSPAN2 Silent rs1406859 1 115626071 [A/G] NM_005725 TSPAN2 Silent rs4839413 1 115638044 [A/C] rs6691374 1 115642818 [T/C] rs1750391 1 115642847 [A/G] rs1852989 1 115648756 [A/G] exm2265038 1 115658497 [A/G] rs6679900 1 115664311 [T/C] rs987267 1 115664930 [A/G] rs910625 1 115674952 [T/C] rs4367784 1 115685684 [T/C] rs1627351 1 115688400 [A/G] rs2798476 1 115697580 [T/C] rs1294449 1 115721520 [A/G] rs17540136 1 115722705 [A/G] rs195216 1 115723695 [T/G] rs1146165 1 115728581 [A/G] rs9429549 1 115733494 [T/C] exm-rs195204 1 115734091 [T/C] rs195204 1 115734091 [T/C] rs11806316 1 115753482 [A/G] rs12129295 1 115755552 [A/G] rs1040605 1 115759830 [A/G] rs7542599 1 115782754 [T/C] rs11102901 1 115796490 [A/G] rs12033518 1 115797624 [T/C] exm2268742 1 115797624 [T/C] rs12745217 1 115799299 [T/C] rs11102914 1 115812379 [A/G] 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 rs6330 1 115829313 [A/G] NM_002506 NGF EXON Missense_A35V rs910330 1 115835500 [T/G] NM_002506 NGF Silent rs2239622 1 115837709 [A/G] NM_002506 NGF Silent rs12058927 1 115846221 [T/C] NM_002506 NGF Silent rs10776797 1 115847295 [T/G] NM_002506 NGF Silent rs10858072 1 115847392 [T/C] NM_002506 NGF Silent rs6537860 1 115856344 [A/G] NM_002506 NGF Silent rs12145726 1 115857251 [A/G] NM_002506 NGF Silent rs10776798 1 115862254 [A/C] NM_002506 NGF Silent rs7530686 1 115863900 [T/C] NM_002506 NGF Silent rs17033692 1 115869850 [T/C] NM_002506 NGF Silent rs10776801 1 115882541 [A/G] rs11102933 1 115894321 [A/C] rs12081407 1 115895838 [A/G] rs11584234 1 115907009 [T/G] rs7552722 1 115921355 [T/C] rs556723 1 115943077 [T/C] rs17033822 1 115969592 [A/G] rs17033823 1 115972614 [T/C] rs1327126 1 115973920 [T/C] rs2148691 1 115994787 [A/C] rs34385187 1 115998249 [T/C] rs17556126 1 115998480 [T/G] rs2334915 1 116000680 [A/G] rs553146 1 116000763 [T/C] rs913203 1 116011300 [A/G] rs735882 1 116011901 [A/G] rs28645661 1 116050880 [T/C] rs552279 1 116069039 [A/G] rs538254 1 116072652 [T/C] rs3010406 1 116089793 [A/G] rs17033934 1 116093778 [T/C] rs3010383 1 116096653 [A/G] rs4839038 1 116102456 [T/C] rs6413949 1 116128484 [T/G] rs4403633 1 116128774 [T/G] rs4332360 1 116146472 [T/C] rs10494178 1 116155918 [A/G] rs4483407 1 116165222 [T/C] rs4240548 1 116170427 [T/C] rs4839463 1 116170705 [A/C] rs4601591 1 116174876 [A/G] 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 indel.5848 1 116206475 [I/D] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON 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 rs12137412 1 116214846 [T/C] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 Silent,Silent,Silent rs4571967 1 116220451 [T/G] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 Silent,Silent,Silent rs12568559 1 116223259 [A/G] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 Silent,Silent,Silent rs6699583 1 116223306 [T/G] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 Silent,Silent,Silent newrs121918219 1 116224993 [A/G] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Missense_R272Q,Missense_R274Q,Missense_R274Q 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 variant.5853 1 116226702 [A/G] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 Silent,Silent,Silent 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 rs10494179 1 116239368 [A/G] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Silent,Silent,Silent rs6428677 1 116240026 [A/G] NM_001172411,NM_138959,NM_001172412 VANGL1,VANGL1,VANGL1 EXON Silent,Silent,Silent rs6673301 1 116241211 [A/G] rs7521023 1 116243380 [A/G] NM_001232 CASQ2 EXON Silent exm86813 1 116244031 [T/A] NM_001232 CASQ2 EXON Missense_M344K variant.5854 1 116244034 [T/C] NM_001232 CASQ2 EXON Nonsense_W343X exm86817 1 116245571 [A/G] NM_001232 CASQ2 EXON Missense_P329S rs3811003 1 116247790 [A/G] NM_001232 CASQ2 Silent exm86820 1 116247824 [T/C] NM_001232 CASQ2 EXON Missense_D310N exm86826 1 116247878 [A/C] NM_001232 CASQ2 EXON Missense_A292S variant.5856 1 116260516 [T/C] NM_001232 CASQ2 Silent rs2997742 1 116260604 [A/G] NM_001232 CASQ2 Silent variant.5857 1 116269612 [T/C] NM_001232 CASQ2 Silent exm86839 1 116269619 [T/C] NM_001232 CASQ2 EXON Missense_H244R exm86840 1 116269620 [A/G] NM_001232 CASQ2 EXON Missense_H244Y variant.5859 1 116269645 [A/C] NM_001232 CASQ2 EXON Missense_E235D rs35672929 1 116270234 [T/G] NM_001232 CASQ2 Silent 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 rs9428083 1 116283343 [A/G] NM_001232 CASQ2 Silent variant.5861 1 116283348 [T/C] NM_001232 CASQ2 Silent rs10801967 1 116286983 [A/G] NM_001232 CASQ2 Silent rs17034482 1 116297034 [A/G] NM_001232 CASQ2 Silent rs4073778 1 116297758 [A/C] NM_001232 CASQ2 Silent rs9428087 1 116301565 [A/G] NM_001232 CASQ2 Silent rs9428225 1 116302923 [T/C] NM_001232 CASQ2 Silent exm86859 1 116310937 [T/C] NM_001232 CASQ2 EXON Missense_V76M exm86861 1 116310967 [T/C] NM_001232 CASQ2 EXON Missense_T66A rs4074536 1 116310967 [T/C] NM_001232 CASQ2 EXON Missense_T66A rs10923445 1 116320833 [T/C] rs7418954 1 116331806 [T/C] rs12039739 1 116333111 [T/C] rs9428235 1 116333581 [T/G] rs4483405 1 116339269 [T/G] rs4453038 1 116347890 [T/C] rs2797180 1 116357354 [A/C] rs2797172 1 116361026 [T/C] rs2797208 1 116384580 [T/C] rs12033106 1 116394349 [A/G] rs4548442 1 116397910 [T/C] rs2096210 1 116401394 [T/C] rs1689121 1 116414789 [T/C] rs814987 1 116421457 [A/G] rs10754390 1 116426939 [T/C] rs12059640 1 116430415 [T/C] rs6656298 1 116432480 [T/C] rs1342722 1 116433182 [T/C] rs2797188 1 116433936 [A/G] rs1342718 1 116449903 [A/G] rs7512489 1 116466734 [A/C] rs699748 1 116475843 [A/G] rs12568384 1 116478690 [A/G] rs699765 1 116496141 [T/G] rs699767 1 116499471 [A/G] exm86891 1 116519313 [T/G] NM_018420 SLC22A15 EXON Missense_F22C rs924277 1 116521057 [A/C] NM_018420 SLC22A15 Silent rs2488432 1 116527068 [A/G] NM_018420 SLC22A15 Silent 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 rs4046190 1 116534852 [T/C] NM_018420 SLC22A15 EXON Synonymous_S96S rs1565694 1 116553207 [T/G] NM_018420 SLC22A15 Silent kgp24950463 1 116562253 [T/C] NM_018420 SLC22A15 EXON Synonymous_F117F exm86906 1 116562272 [T/G] NM_018420 SLC22A15 EXON Missense_V124F exm86909 1 116562310 [C/G] NM_018420 SLC22A15 EXON Missense_F136L rs2488429 1 116569530 [G/C] NM_018420 SLC22A15 EXON Synonymous_L205L exm86923 1 116569622 [T/C] NM_018420 SLC22A15 EXON Missense_T236M exm86925 1 116574034 [A/G] NM_018420 SLC22A15 EXON Missense_S259N variant.5865 1 116577807 [A/G] NM_018420 SLC22A15 Silent kgp24844846 1 116577857 [T/C] NM_018420 SLC22A15 EXON Synonymous_L332L exm1702984 1 116577879 [A/G] NM_018420 SLC22A15 EXON Missense_N339S kgp1092768 1 116577919 [T/A] NM_018420 SLC22A15 EXON Synonymous_P352P indel.5866 1 116577949 [I/D] NM_018420 SLC22A15 rs10923962 1 116581479 [A/G] NM_018420 SLC22A15 Silent rs10923969 1 116603622 [A/G] NM_018420 SLC22A15 Silent rs3748743 1 116605423 [T/C] NM_018420 SLC22A15 EXON Synonymous_S404S rs1281747 1 116607788 [A/C] NM_018420 SLC22A15 Silent rs1281745 1 116608903 [A/G] NM_018420 SLC22A15 Silent kgp8974229 1 116609185 [A/G] NM_018420 SLC22A15 EXON Synonymous_T470T exm86951 1 116609198 [A/G] NM_018420 SLC22A15 EXON Missense_G475S exm86956 1 116609280 [A/G] NM_018420 SLC22A15 EXON Missense_R502H indel.5867 1 116609320 [D/I] NM_018420 SLC22A15 EXON variant.5868 1 116609688 [T/G] NM_018420 SLC22A15 EXON Nonsense_E535X rs3748741 1 116609833 [A/G] NM_018420 SLC22A15 EXON Silent kgp24843301 1 116610173 [A/G] NM_018420 SLC22A15 EXON Silent rs1281744 1 116610227 [A/G] NM_018420 SLC22A15 EXON Silent exm2273332 1 116610388 [A/G] NM_018420 SLC22A15 EXON Silent kgp15247039 1 116611082 [T/C] NM_018420 SLC22A15 EXON Silent kgp1006432 1 116611112 [T/C] NM_018420 SLC22A15 EXON Silent kgp11173869 1 116611431 [A/G] NM_018420 SLC22A15 EXON Silent kgp11928599 1 116611548 [A/G] NM_018420 SLC22A15 EXON Silent kgp15714204 1 116611561 [A/C] NM_018420 SLC22A15 EXON Silent kgp25282050 1 116611697 [T/C] NM_018420 SLC22A15 EXON Silent kgp24766339 1 116611738 [A/G] NM_018420 SLC22A15 EXON Silent kgp7985193 1 116611991 [A/G] NM_018420 SLC22A15 EXON Silent kgp1191547 1 116612318 [A/G] NM_018420 SLC22A15 EXON Silent kgp10847070 1 116612459 [A/T] NM_018420 SLC22A15 EXON Silent rs2479373 1 116649821 [T/C] 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 indel.5869 1 116666969 [I/D] NM_152367 MAB21L3 EXON newrs767833 1 116666978 [A/G] NM_152367 MAB21L3 EXON Missense_G161S 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 rs10802159 1 116676035 [A/C] NM_152367 MAB21L3 EXON Silent rs6670668 1 116676548 [A/G] NM_152367 MAB21L3 EXON Silent rs10802162 1 116691120 [A/C] exm2249712 1 116716281 [T/C] rs6658845 1 116717619 [A/G] rs752457 1 116725740 [A/G] rs2208365 1 116733218 [A/C] rs1884989 1 116740195 [T/C] rs7548144 1 116764781 [A/G] rs10924002 1 116771069 [T/G] rs12125273 1 116776537 [T/C] rs6428885 1 116779318 [T/C] rs2184483 1 116795524 [A/G] rs4839524 1 116800201 [A/G] rs6694434 1 116804727 [A/C] rs9428340 1 116807231 [T/G] rs4839061 1 116808177 [T/C] rs9428197 1 116812245 [A/G] rs12089467 1 116819325 [T/C] rs2335957 1 116821111 [T/C] rs4839532 1 116851932 [T/C] rs4839534 1 116859356 [T/C] rs6428895 1 116886230 [T/C] exm2268927 1 116887742 [T/C] rs7539947 1 116907359 [A/G] rs10924074 1 116921019 [A/G] NM_000701,NM_001160233 ATP1A1,ATP1A1 Silent,Silent rs12070283 1 116922853 [A/G] NM_000701,NM_001160233 ATP1A1,ATP1A1 Silent,Silent indel.5873 1 116926708 [D/I] NM_000701,NM_001160233,NM_001160234 ATP1A1,ATP1A1,ATP1A1 EXON rs12079419 1 116931628 [A/C] NM_000701,NM_001160233,NM_001160234 ATP1A1,ATP1A1,ATP1A1 EXON Synonymous_T247T,Synonymous_T247T,Synonymous_T216T 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 variant.5876 1 116943887 [A/G] NM_000701,NM_001160233,NM_001160234,NR_027646,NR_027645 ATP1A1,ATP1A1,ATP1A1,ATP1A1OS,ATP1A1OS Silent,Silent,Silent,Silent,Silent rs17035658 1 116988030 [T/C] rs12128828 1 116991956 [A/G] rs6671978 1 117019614 [T/C] rs1176386 1 117026156 [T/C] rs10924106 1 117053745 [T/C] rs1414275 1 117066907 [A/G] NM_001779,NR_026665,NM_001144822 CD58,CD58,CD58 Silent,Silent,Silent exm87175 1 117086941 [T/A] NM_001779,NR_026665,NM_001144822 CD58,CD58,CD58 EXON Missense_Y119F,Silent,Missense_Y119F exm1703172 1 117087019 [T/C] NM_001779,NR_026665,NM_001144822 CD58,CD58,CD58 EXON Missense_Y93C,Silent,Missense_Y93C exm2230872 1 117087167 [A/G] NM_001779,NR_026665,NM_001144822 CD58,CD58,CD58 EXON Missense_H44Y,Silent,Missense_H44Y exm87184 1 117087176 [T/C] NM_001779,NR_026665,NM_001144822 CD58,CD58,CD58 EXON Missense_V41I,Silent,Missense_V41I exm87187 1 117087208 [T/G] NM_001779,NR_026665,NM_001144822 CD58,CD58,CD58 EXON Missense_S30Y,Silent,Missense_S30Y exm-rs1335532 1 117100957 [A/G] NM_001779,NR_026665,NM_001144822 CD58,CD58,CD58 Silent,Silent,Silent exm-rs2300747 1 117104215 [A/G] NM_001779,NR_026665,NM_001144822 CD58,CD58,CD58 Silent,Silent,Silent exm87191 1 117113552 [T/C] NM_001779,NR_026665,NM_001144822 CD58,CD58,CD58 EXON Missense_S15G,Silent,Missense_S15G exm87199 1 117120134 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_V1129I,Missense_V1149I exm87205 1 117122064 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_R1095Q,Missense_R1115Q exm87208 1 117122130 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_Q1073R,Missense_Q1093R exm87217 1 117122281 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_D1023N,Missense_D1043N exm87226 1 117122355 [G/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_G998A,Missense_G1018A exm87234 1 117127386 [A/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_V910G,Missense_V930G exm87235 1 117127393 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_V908M,Missense_V928M exm87236 1 117127410 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_R902H,Missense_R922H exm87238 1 117127417 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_V900M,Missense_V920M exm87246 1 117127644 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_G824E,Missense_G844E rs570440 1 117128172 [A/C] NM_001007237,NM_001542 IGSF3,IGSF3 Silent,Silent exm87268 1 117131588 [A/G] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_S723L,Missense_S743L exm87309 1 117142848 [A/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_W582G,Missense_W602G exm2230879 1 117150609 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Missense_E393K,Missense_E393K exm2230882 1 117156651 [A/C] NM_001007237,NM_001542 IGSF3,IGSF3 EXON Nonsense_E190X,Nonsense_E190X rs12750589 1 117164591 [A/G] NM_001007237,NM_001542 IGSF3,IGSF3 Silent,Silent rs606604 1 117199884 [A/C] NM_001007237,NM_001542 IGSF3,IGSF3 Silent,Silent rs1981183 1 117206336 [T/C] NM_001007237,NM_001542 IGSF3,IGSF3 Silent,Silent rs699703 1 117218615 [T/C] rs699706 1 117220931 [A/G] rs696663 1 117236379 [T/C] rs12127189 1 117243440 [T/C] rs6428666 1 117255079 [T/C] rs6428667 1 117255270 [A/G] rs624988 1 117263790 [T/C] rs699727 1 117265154 [T/C] rs614448 1 117273577 [T/G] rs7540836 1 117287643 [T/C] rs797999 1 117293763 [T/G] exm87419 1 117297327 [C/G] NM_001767 CD2 EXON Missense_P46A rs3136701 1 117299472 [G/C] NM_001767 CD2 Silent 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 rs798037 1 117308238 [A/C] 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 rs798029 1 117337524 [T/C] rs798023 1 117339802 [A/G] rs1182218 1 117361083 [T/C] rs6428670 1 117367190 [T/C] rs10494190 1 117392940 [A/G] rs17036392 1 117403821 [T/G] rs7368186 1 117437126 [T/C] exm2268928 1 117448282 [T/C] rs2182605 1 117463537 [T/C] NM_020440 PTGFRN Silent exm-rs2806864 1 117469781 [G/C] NM_020440 PTGFRN Silent rs2478766 1 117474229 [T/G] NM_020440 PTGFRN Silent rs4539125 1 117482765 [T/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 rs4128518 1 117494820 [T/C] NM_020440 PTGFRN Silent 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 rs12024946 1 117508304 [T/C] NM_020440 PTGFRN Silent exm87533 1 117509534 [T/C] NM_020440 PTGFRN EXON Synonymous_D547D rs12096164 1 117512505 [T/C] NM_020440 PTGFRN Silent exm87549 1 117516858 [A/G] NM_020440 PTGFRN EXON Missense_V694M exm2249721 1 117516938 [T/G] NM_020440 PTGFRN EXON Synonymous_L720L rs12063648 1 117524022 [T/G] NM_020440 PTGFRN Silent 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 rs3829881 1 117531813 [T/C] NM_020440 PTGFRN EXON Silent exm2264895 1 117531911 [A/G] NM_020440 PTGFRN EXON Silent rs4659051 1 117539373 [T/G] rs10494191 1 117544015 [A/C] indel.5881 1 117544454 [I/D] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON rs10494193 1 117544879 [T/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 Silent,Silent,Silent,Silent rs2806870 1 117547790 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 Silent,Silent,Silent,Silent rs2764850 1 117550623 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 Silent,Silent,Silent,Silent exm87582 1 117552529 [G/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_A34G,Missense_A34G,Missense_A34G,Missense_A34G exm87587 1 117552592 [T/A] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_H55L,Missense_H55L,Missense_H55L,Missense_H55L exm87588 1 117552637 [A/T] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_V70D,Missense_V70D,Missense_V70D,Missense_V70D exm2230888 1 117552639 [T/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Nonsense_Q71X,Nonsense_Q71X,Nonsense_Q71X,Nonsense_Q71X exm87589 1 117552675 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_A83T,Missense_A83T,Missense_A83T,Missense_A83T exm87593 1 117552727 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_Q100R,Missense_Q100R,Missense_Q100R,Missense_Q100R exm87597 1 117552805 [A/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_T126N,Missense_T126N,Missense_T126N,Missense_T126N exm87598 1 117552820 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_Y131C,Missense_Y131C,Missense_Y131C,Missense_Y131C exm87603 1 117554216 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Silent,Missense_G157S,Missense_G157S,Missense_G157S exm87605 1 117554352 [T/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Silent,Missense_S202F,Missense_S202F,Missense_S202F exm87609 1 117554421 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_N163S,Missense_N225S,Missense_N225S,Missense_N225S indel.5885 1 117554546 [I/D] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON exm87622 1 117556165 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_A265T,Missense_A327T,Missense_A327T,Missense_A327T exm87625 1 117556224 [A/T] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_S284R,Missense_S346R,Missense_S346R,Missense_S346R exm87628 1 117556271 [T/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_L300P,Missense_L362P,Missense_L362P,Missense_L362P exm87630 1 117556307 [T/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_A312V,Missense_A374V,Missense_A374V,Missense_A374V exm1703682 1 117559721 [T/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_V351A,Missense_V413A,Missense_V413A,Missense_V413A exm87640 1 117559726 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_M353V,Missense_M415V,Missense_M415V,Missense_M415V exm87645 1 117559837 [T/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_R390W,Missense_R452W,Missense_R452W,Missense_R452W exm87652 1 117559893 [T/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_Q408H,Missense_Q470H,Missense_Q470H,Missense_Q470H exm87657 1 117560036 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_R456Q,Missense_R518Q,Missense_R518Q,Missense_R518Q exm87658 1 117560058 [G/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_S463R,Missense_S525R,Missense_S525R,Missense_S525R exm1703688 1 117560779 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Synonymous_E476E,Synonymous_E538E,Synonymous_E538E,Synonymous_E538E exm87665 1 117560831 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_N494D,Missense_N556D,Missense_N556D,Missense_N556D exm2273680 1 117560898 [T/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_T516M,Missense_T578M,Missense_T578M,Missense_T578M rs3736907 1 117560929 [A/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Synonymous_I526I,Synonymous_I588I,Synonymous_I588I,Synonymous_I588I exm87674 1 117560990 [T/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_R547W,Missense_R609W,Missense_R609W,Missense_R609W exm87676 1 117561015 [T/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_S555L,Missense_S617L,Missense_S617L,Missense_S617L exm87677 1 117561030 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_R560H,Missense_R622H,Missense_R622H,Missense_R622H exm87683 1 117564288 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_N642S,Missense_N704S,Missense_N704S,Missense_N704S exm1703695 1 117564315 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Nonsense_W651X,Nonsense_W713X,Nonsense_W713X,Nonsense_W713X variant.5889 1 117564315 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Nonsense_W651X,Nonsense_W713X,Nonsense_W713X,Nonsense_W713X indel.5890 1 117564318 [I/D] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON exm87686 1 117564416 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_R685G,Missense_R747G,Missense_R747G,Missense_R747G exm87690 1 117564491 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_D710N,Missense_D772N,Missense_D772N,Missense_D772N indel.5892 1 117568146 [I/D] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON exm87698 1 117568200 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_R771H,Missense_R833H,Missense_R833H,Missense_R833H exm87699 1 117568202 [T/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_C772R,Missense_C834R,Missense_C834R,Missense_C834R exm87701 1 117568217 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_V777I,Missense_V839I,Missense_V839I,Missense_V839I exm87704 1 117568358 [T/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_R824C,Missense_R886C,Missense_R886C,Missense_R886C exm87711 1 117568500 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_R871Q,Missense_R933Q,Missense_R933Q,Missense_R933Q exm1703701 1 117568514 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_V876M,Missense_V938M,Missense_V938M,Missense_V938M rs3767780 1 117574023 [A/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 Silent,Silent,Silent,Silent exm87717 1 117576522 [A/T] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_L893F,Missense_L955F,Missense_L955F,Missense_L955F exm87719 1 117576544 [C/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_P901A,Missense_P963A,Missense_P963A,Missense_P963A exm87720 1 117576550 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_V903I,Missense_V965I,Missense_V965I,Missense_V965I exm87724 1 117576619 [T/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_R926C,Missense_R988C,Missense_R988C,Missense_R988C exm87725 1 117576631 [T/C] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_R930W,Missense_R992W,Missense_R992W,Missense_R992W exm87728 1 117576679 [A/G] NM_001256111,NM_001256106,NM_004258,NM_001256109 CD101,CD101,CD101,CD101 EXON Missense_T946A,Missense_T1008A,Missense_T1008A,Missense_T1008A rs12121509 1 117582373 [A/G] rs2764862 1 117599054 [A/C] rs2477725 1 117600045 [A/C] exm87738 1 117603083 [T/C] NM_003594 TTF2 EXON Missense_F12S exm87741 1 117603131 [A/G] NM_003594 TTF2 EXON Missense_S28N rs2274253 1 117603156 [T/G] NM_003594 TTF2 EXON Synonymous_T36T exm2249723 1 117603156 [T/G] NM_003594 TTF2 EXON Synonymous_T36T variant.5896 1 117605100 [T/G] NM_003594 TTF2 Silent rs1289675 1 117615935 [A/G] NM_003594 TTF2 Silent 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 rs998532 1 117617705 [A/G] NM_003594 TTF2 EXON Missense_K167E indel.5899 1 117617773 [I/D] NM_003594 TTF2 EXON 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 var_1_117618309 1 117618310 [D/I] NM_003594 TTF2 EXON 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 newrs150482379 1 117620549 [T/C] NM_003594 TTF2 EXON Nonsense_Q529X 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 rs3767767 1 117621281 [T/G] NM_003594 TTF2 Silent 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 variant.5908 1 117631444 [T/C] NM_003594 TTF2 EXON Nonsense_R728X 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 var_1_117634572 1 117634572 [A/G] NM_003594 TTF2 EXON Synonymous_S935S exm87870 1 117635401 [A/G] NM_003594 TTF2 EXON Missense_E952K exm87871 1 117635413 [A/G] NM_003594 TTF2 EXON Missense_S956G indel.5910 1 117635449 [I/D] NM_003594 TTF2 EXON 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 newrs145988111 1 117635509 [T/C] NM_003594 TTF2 EXON Nonsense_R988X 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 indel.5914 1 117640034 [I/D] NM_003594 TTF2 EXON rs1289663 1 117643482 [T/C] NM_003594 TTF2 Silent exm87911 1 117644038 [A/T] NM_003594 TTF2 EXON Missense_L1127F 1KG_1_117644041 1 117644041 [D/I] NM_003594 TTF2 EXON 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 indel.5916 1 117644185 [I/D] NM_003594 TTF2 EXON 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 indel.5919 1 117658251 [D/I] NM_001145635,NM_025188 TRIM45,TRIM45 EXON 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 variant.5922 1 117659369 [T/C] NM_001145635,NM_025188 TRIM45,TRIM45 Silent,Silent newrs117308167 1 117660705 [T/C] NM_001145635,NM_025188 TRIM45,TRIM45 EXON Silent,Synonymous_T391T 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 indel.5929 1 117663809 [D/I] NM_001145635,NM_025188 TRIM45,TRIM45 EXON rs4659126 1 117675943 [T/C] variant.5930 1 117690406 [T/C] NM_001253850,NM_001253849,NM_024626,NR_045604,NR_045603 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent,Silent exm88018 1 117695862 [A/G] NM_001253850,NM_001253849,NM_024626,NR_045604,NR_045603 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Missense_S76L,Missense_S97L,Missense_S192L,Silent,Silent exm1703815 1 117695961 [T/G] NM_001253850,NM_001253849,NM_024626,NR_045604,NR_045603 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Missense_Y43S,Missense_Y64S,Missense_Y159S,Silent,Silent exm1703816 1 117699207 [T/C] NM_001253850,NM_001253849,NM_024626,NR_045604,NR_045603 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Silent,Missense_Y50C,Missense_Y145C,Silent,Silent exm88023 1 117699223 [T/G] NM_001253850,NM_001253849,NM_024626,NR_045604,NR_045603 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Silent,Missense_N45H,Missense_N140H,Silent,Silent exm2273681 1 117699283 [C/G] NM_001253850,NM_001253849,NM_024626,NR_045604,NR_045603 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Silent,Missense_V25L,Missense_V120L,Silent,Silent exm88035 1 117699514 [T/C] NM_001253850,NM_001253849,NM_024626,NR_045604,NR_045603 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 EXON Silent,Silent,Missense_A43T,Silent,Silent rs6657810 1 117715026 [T/C] NM_001253850,NM_001253849,NM_024626,NR_045604,NR_045603 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent,Silent rs6428686 1 117718797 [A/G] NM_001253850,NM_001253849,NM_024626,NR_045604,NR_045603 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent,Silent rs10047089 1 117728652 [A/G] NM_001253850,NM_001253849,NM_024626,NR_045604,NR_045603 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent,Silent rs4659190 1 117737486 [A/G] NM_001253850,NM_001253849,NM_024626,NR_045604,NR_045603 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent,Silent rs1935780 1 117738637 [A/G] NM_001253850,NM_001253849,NM_024626,NR_045604,NR_045603 VTCN1,VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent,Silent rs6674646 1 117749809 [T/C] NM_001253850,NM_024626,NR_045604,NR_045603 VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent exm-rs12046117 1 117751365 [T/C] NM_001253850,NM_024626,NR_045604,NR_045603 VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent rs10923229 1 117752498 [A/G] NM_001253850,NM_024626,NR_045604,NR_045603 VTCN1,VTCN1,VTCN1,VTCN1 Silent,Silent,Silent,Silent rs1892409 1 117759325 [T/C] rs10923243 1 117767918 [A/G] rs6692758 1 117773202 [A/G] rs1342738 1 117789283 [A/G] rs1418451 1 117796932 [T/G] rs7536105 1 117818054 [T/C] rs1146291 1 117820117 [T/C] rs12135026 1 117826699 [A/G] rs873975 1 117839081 [T/C] rs1877465 1 117844251 [A/G] rs1707113 1 117872629 [A/G] rs17037149 1 117883834 [A/G] rs1289941 1 117944732 [A/C] NM_006699 MAN1A2 Silent exm88061 1 117944964 [A/C] NM_006699 MAN1A2 EXON Missense_N153K rs10923297 1 117983815 [A/G] NM_006699 MAN1A2 Silent indel.5933 1 117984952 [D/I] NM_006699 MAN1A2 rs4659050 1 117989275 [A/G] NM_006699 MAN1A2 Silent exm88074 1 118003190 [A/C] NM_006699 MAN1A2 EXON Missense_I344L rs1290541 1 118030256 [T/G] NM_006699 MAN1A2 Silent 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 rs3767802 1 118042757 [A/C] NM_006699 MAN1A2 Silent exm88102 1 118065541 [A/G] NM_006699 MAN1A2 EXON Missense_A630T rs10801963 1 118072302 [A/G] rs2767319 1 118075647 [A/G] rs2767323 1 118087384 [A/G] rs3795657 1 118087449 [A/G] rs4261104 1 118119534 [T/C] rs12032624 1 118131205 [T/C] rs320348 1 118133639 [T/C] rs12037710 1 118139031 [A/G] rs10923351 1 118141764 [A/C] rs2576570 1 118147675 [A/C] rs3767812 1 118155620 [A/G] NM_017709 FAM46C Silent rs860395 1 118163457 [T/C] NM_017709 FAM46C Silent 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 rs826403 1 118167199 [A/G] NM_017709 FAM46C EXON Silent rs11581122 1 118168826 [T/C] NM_017709 FAM46C EXON Silent rs2282456 1 118169463 [A/G] NM_017709 FAM46C EXON Silent rs1808806 1 118174222 [A/G] rs422484 1 118182628 [A/C] rs319501 1 118192953 [A/G] rs11588056 1 118208245 [A/C] rs7520590 1 118214719 [T/G] rs7544119 1 118215086 [A/C] rs12116919 1 118219568 [T/C] rs6681882 1 118224778 [A/G] rs6682090 1 118225006 [T/G] rs7529721 1 118230466 [T/C] rs1891556 1 118242864 [A/G] rs12735195 1 118244639 [A/G] exm2268744 1 118249041 [T/C] rs1812607 1 118253295 [T/C] rs2002747 1 118255058 [A/G] rs1419369 1 118276152 [A/G] rs4659339 1 118281822 [A/C] rs319486 1 118283890 [A/G] rs319464 1 118293093 [A/G] rs12145990 1 118294476 [T/C] rs12731636 1 118296638 [T/G] rs12096202 1 118300436 [A/G] rs1780041 1 118327587 [T/C] rs10923424 1 118337206 [T/C] rs11805137 1 118338453 [T/C] rs7524918 1 118351638 [A/G] rs7412527 1 118355412 [T/G] rs720162 1 118369833 [T/G] rs6681593 1 118377788 [T/C] indel.5936 1 118420607 [D/I] NM_017686,NM_001135589 GDAP2,GDAP2 EXON exm88161 1 118420768 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_T437A,Missense_T437A rs12058607 1 118421109 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 Silent,Silent variant.5937 1 118426108 [A/C] NM_017686,NM_001135589 GDAP2,GDAP2 Silent,Silent exm88172 1 118426147 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_D404N,Missense_D404N newrs141678357 1 118430319 [A/C] NM_017686,NM_001135589 GDAP2,GDAP2 Silent,Silent exm88177 1 118430343 [A/G] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_S336F,Missense_S336F variant.5941 1 118441674 [A/C] NM_017686,NM_001135589 GDAP2,GDAP2 Silent,Silent variant.5942 1 118441718 [A/G] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Nonsense_R253X,Nonsense_R253X 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 variant.5943 1 118449127 [T/C] NM_017686,NM_001135589 GDAP2,GDAP2 Silent,Silent exm88194 1 118449203 [C/G] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Synonymous_R187R,Synonymous_R187R variant.5944 1 118454616 [A/G] NM_017686,NM_001135589 GDAP2,GDAP2 EXON Missense_R187C,Missense_R187C 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 indel.5945 1 118476019 [I/D] NM_006784 WDR3 EXON exm88226 1 118476052 [A/G] NM_006784 WDR3 EXON Missense_R37H indel.5946 1 118477162 [I/D] NM_006784 WDR3 EXON exm88230 1 118477235 [A/G] NM_006784 WDR3 EXON Missense_N104S variant.5947 1 118479485 [T/C] NM_006784 WDR3 EXON Nonsense_R159X rs10923448 1 118480591 [T/C] NM_006784 WDR3 Silent exm88246 1 118481173 [T/C] NM_006784 WDR3 EXON Missense_R191W rs7515738 1 118481581 [T/C] NM_006784 WDR3 Silent 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 1KG_1_118486040 1 118486040 [D/I] NM_006784 WDR3 EXON 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 variant.5950 1 118491130 [A/G] NM_006784 WDR3 Silent variant.5951 1 118492637 [T/C] NM_006784 WDR3 EXON Nonsense_R544X exm88305 1 118492739 [A/G] NM_006784 WDR3 EXON Missense_V578I newrs149832695 1 118494704 [A/G] NM_006784 WDR3 Silent variant.5953 1 118494933 [T/C] NM_006784 WDR3 EXON Nonsense_Q640X variant.5954 1 118495036 [A/C] NM_006784 WDR3 Silent indel.5956 1 118497212 [D/I] NM_006784,NM_206996 WDR3,SPAG17 EXON variant.5957 1 118499690 [T/G] NM_006784,NM_206996 WDR3,SPAG17 Silent,Silent 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 indel.5960 1 118502013 [I/D] NM_006784,NM_206996 WDR3,SPAG17 EXON 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 indel.5961 1 118506524 [I/D] NM_206996 SPAG17 EXON exm88364 1 118506531 [T/C] NM_206996 SPAG17 EXON Missense_R2188Q newrs137887712 1 118506539 [A/C] NM_206996 SPAG17 EXON Nonsense_Y2185X variant.5965 1 118509256 [T/C] NM_206996 SPAG17 EXON Missense_V2170I 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 var_1_118514671 1 118514671 [T/C] NM_206996 SPAG17 Silent exm88387 1 118516082 [A/T] NM_206996 SPAG17 EXON Missense_L2036Q exm88395 1 118516181 [C/G] NM_206996 SPAG17 EXON Missense_A2003G rs1409055 1 118520042 [T/C] NM_206996 SPAG17 Silent 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 rs10923457 1 118530065 [T/C] NM_206996 SPAG17 Silent 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 rs12031260 1 118537074 [A/G] NM_206996 SPAG17 EXON Synonymous_P1711P exm88438 1 118537076 [A/G] NM_206996 SPAG17 EXON Missense_P1711S exm88440 1 118537142 [T/C] NM_206996 SPAG17 EXON Missense_I1689V newrs140829839 1 118538991 [A/C] NM_206996 SPAG17 Silent 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 variant.5970 1 118554983 [A/G] NM_206996 SPAG17 EXON Nonsense_R1434X exm88479 1 118558595 [T/C] NM_206996 SPAG17 EXON Missense_N1427S exm2273682 1 118558707 [T/C] NM_206996 SPAG17 EXON Missense_I1390V indel.5971 1 118558800 [I/D] NM_206996 SPAG17 EXON variant.5972 1 118565922 [T/G] NM_206996 SPAG17 Silent 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 variant.5973 1 118574310 [T/G] NM_206996 SPAG17 Silent exm88511 1 118574322 [A/T] NM_206996 SPAG17 EXON Missense_E1201V exm88516 1 118574439 [A/G] NM_206996 SPAG17 EXON Missense_T1162I rs6428727 1 118575757 [T/C] NM_206996 SPAG17 Silent variant.5974 1 118579433 [T/G] NM_206996 SPAG17 EXON Nonsense_C1131X exm88522 1 118579488 [T/C] NM_206996 SPAG17 EXON Missense_N1113S exm88524 1 118581916 [T/C] NM_206996 SPAG17 EXON Synonymous_T1106T indel.5976 1 118581927 [I/D] NM_206996 SPAG17 EXON 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 variant.5980 1 118609367 [A/C] NM_206996 SPAG17 Silent exm88562 1 118609491 [A/C] NM_206996 SPAG17 EXON Missense_C806F variant.5981 1 118616476 [T/C] NM_206996 SPAG17 Silent exm88567 1 118617192 [A/C] NM_206996 SPAG17 EXON Missense_D747E exm88568 1 118617217 [G/C] NM_206996 SPAG17 EXON Missense_T739S rs1935993 1 118617274 [T/C] NM_206996 SPAG17 Silent rs6428729 1 118623055 [A/G] NM_206996 SPAG17 Silent variant.5983 1 118624239 [A/G] NM_206996 SPAG17 EXON Nonsense_R597X exm88590 1 118628623 [C/G] NM_206996 SPAG17 EXON Missense_Q562E variant.5984 1 118628662 [A/G] NM_206996 SPAG17 EXON Nonsense_Q549X variant.5985 1 118629489 [T/C] NM_206996 SPAG17 Silent indel.5986 1 118629493 [D/I] NM_206996 SPAG17 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 variant.5988 1 118634279 [A/G] NM_206996 SPAG17 EXON Nonsense_R437X exm88612 1 118634282 [T/C] NM_206996 SPAG17 EXON Missense_I436V exm88613 1 118634297 [A/C] NM_206996 SPAG17 EXON Missense_Y431D variant.5989 1 118634548 [T/C] NM_206996 SPAG17 Silent variant.5990 1 118634619 [A/G] NM_206996 SPAG17 EXON Nonsense_Q394X 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 rs17257729 1 118678953 [T/C] NM_206996 SPAG17 Silent rs2153978 1 118702287 [A/G] NM_206996 SPAG17 Silent exm88656 1 118727698 [T/C] NM_206996 SPAG17 EXON Missense_N28S exm88658 1 118727720 [A/C] NM_206996 SPAG17 EXON Missense_S21A rs10923507 1 118731761 [T/C] rs1782414 1 118739301 [A/C] rs4411121 1 118757034 [T/C] rs6667043 1 118760171 [A/C] rs7553660 1 118784987 [T/C] rs1938263 1 118796804 [A/G] rs9661113 1 118799439 [T/C] rs12092268 1 118835195 [A/G] rs9428109 1 118859049 [T/G] rs17038164 1 118862669 [T/C] rs17038170 1 118863787 [A/G] rs4375253 1 118864968 [T/C] exm-rs17038182 1 118868405 [C/G] rs6690477 1 118869933 [A/G] exm-rs12735613 1 118883973 [A/G] rs2474946 1 118884512 [T/C] rs6428742 1 118889632 [T/C] rs7535961 1 118889815 [T/C] rs2474937 1 118902978 [A/G] rs10923556 1 118903196 [T/C] rs2145419 1 118938522 [T/C] rs17038273 1 118953104 [T/G] rs17038298 1 118971450 [A/G] rs1229137 1 118973742 [T/C] rs1146349 1 118975209 [A/G] rs10489731 1 118986187 [A/C] rs1146336 1 118987888 [T/C] rs1419056 1 119002896 [A/C] rs1213983 1 119007709 [T/C] exm2263834 1 119016240 [A/C] rs1146320 1 119016240 [A/C] rs1324727 1 119029958 [A/G] exm-rs10923574 1 119030698 [A/C] rs12408596 1 119034534 [T/C] rs1213989 1 119048181 [T/G] rs1830853 1 119069110 [T/C] rs17021936 1 119071421 [A/G] rs1213884 1 119074219 [A/C] rs6428751 1 119079566 [A/G] rs1324720 1 119081459 [T/G] rs4659102 1 119095273 [A/C] rs1343301 1 119104373 [A/G] rs10802043 1 119117167 [T/C] rs2798445 1 119129814 [T/C] rs1911167 1 119142209 [T/C] rs2884876 1 119153514 [A/G] rs1742854 1 119157211 [T/G] rs7542082 1 119160266 [T/C] rs1228985 1 119161408 [A/G] rs1701970 1 119168450 [T/C] rs2360627 1 119188329 [T/C] rs10923640 1 119189778 [A/G] rs1213850 1 119202269 [T/C] rs1213852 1 119203789 [T/C] rs7536520 1 119224268 [A/C] rs6681784 1 119229224 [A/G] exm2259744 1 119234198 [T/C] rs2755140 1 119253426 [A/C] rs6692676 1 119259262 [A/G] rs1961171 1 119277851 [T/C] rs10923662 1 119289072 [A/C] rs17022390 1 119292887 [A/C] rs2764473 1 119300747 [T/C] rs9787392 1 119300941 [A/G] rs1408854 1 119310008 [T/C] rs4659120 1 119319805 [A/G] kgp8623201 1 119329378 [A/G] rs12566190 1 119331023 [A/G] rs1779415 1 119380513 [A/G] rs1766803 1 119383818 [T/C] rs1361209 1 119414648 [A/G] 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 rs10923694 1 119431014 [T/C] NM_152380 TBX15 Silent rs6655966 1 119433518 [A/G] NM_152380 TBX15 Silent 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 rs1779416 1 119453869 [A/G] NM_152380 TBX15 Silent rs12033524 1 119454212 [T/C] NM_152380 TBX15 Silent rs1779429 1 119460481 [T/C] NM_152380 TBX15 Silent rs1779431 1 119461396 [T/G] NM_152380 TBX15 Silent 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 rs1419286 1 119468760 [T/C] NM_152380 TBX15 Silent exm88721 1 119469188 [T/G] NM_152380 TBX15 EXON Missense_H50N rs10494217 1 119469188 [T/G] NM_152380 TBX15 EXON Missense_H50N exm88722 1 119469199 [T/C] NM_152380 TBX15 EXON Missense_G46D rs2645290 1 119471908 [A/G] NM_152380 TBX15 Silent rs1325945 1 119485771 [A/C] NM_152380 TBX15 Silent rs1750330 1 119493411 [A/C] NM_152380 TBX15 Silent rs1155949 1 119496579 [T/C] NM_152380 TBX15 Silent rs985036 1 119500773 [A/G] NM_152380 TBX15 Silent exm-rs984222 1 119503843 [C/G] NM_152380 TBX15 Silent rs984225 1 119504284 [A/G] NM_152380 TBX15 Silent rs6680737 1 119521631 [A/G] NM_152380 TBX15 Silent rs1409159 1 119538433 [A/C] rs716217 1 119538705 [A/G] rs7551082 1 119540842 [A/C] rs4501872 1 119552284 [A/G] exm2268746 1 119555146 [T/G] exm-rs12021830 1 119562382 [T/C] rs2148150 1 119572057 [A/G] rs2645294 1 119574587 [T/C] NM_201263,NM_015836 WARS2,WARS2 EXON Silent,Silent 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 rs17023164 1 119589343 [T/C] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent rs17023171 1 119593268 [T/G] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent exm88773 1 119619077 [G/C] NM_201263,NM_015836 WARS2,WARS2 EXON Missense_P82A,Missense_P82A rs7525871 1 119621894 [T/C] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent rs2885226 1 119624163 [T/C] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent rs6658479 1 119627856 [T/C] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent rs2885227 1 119650928 [A/C] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent rs1341580 1 119657057 [T/G] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent rs10923754 1 119668640 [T/C] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent rs2498500 1 119673093 [T/C] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent rs4387216 1 119680296 [T/C] NM_201263,NM_015836 WARS2,WARS2 Silent,Silent exm88783 1 119683231 [A/C] NM_201263,NM_015836 WARS2,WARS2 EXON Missense_W13G,Missense_W13G rs6428801 1 119688490 [A/G] rs7543720 1 119705966 [A/G] rs6678854 1 119729171 [T/G] rs1891222 1 119751002 [T/C] rs10923775 1 119766273 [A/G] rs7524644 1 119766683 [T/C] rs871665 1 119772663 [T/C] rs17023344 1 119776984 [T/G] rs11579916 1 119787542 [A/G] rs12757996 1 119812129 [A/G] rs1341802 1 119823046 [T/C] rs1539188 1 119828542 [T/C] rs17186115 1 119830226 [A/G] rs7526517 1 119858685 [A/G] rs838518 1 119860022 [A/G] rs725248 1 119861402 [T/C] rs947425 1 119863356 [A/G] rs838534 1 119893928 [T/C] rs838530 1 119897499 [T/C] rs3820032 1 119908763 [A/G] rs6667203 1 119913824 [A/G] NM_016527,NM_001005783 HAO2,HAO2 Silent,Silent rs7514283 1 119916426 [A/G] NM_016527,NM_001005783 HAO2,HAO2 Silent,Silent exm88793 1 119923751 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_E15K,Missense_E15K exm88796 1 119925549 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_R48H,Missense_R48H exm88798 1 119925554 [T/C] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_R50W,Missense_R50W exm88804 1 119925632 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_A76T,Missense_A76T exm88805 1 119925642 [G/C] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_G79A,Missense_G79A exm88807 1 119925645 [A/T] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_F80Y,Missense_F80Y rs2298028 1 119925936 [T/C] NM_016527,NM_001005783 HAO2,HAO2 Silent,Silent exm2230921 1 119927444 [C/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_S110T,Missense_S110T exm1705085 1 119927479 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_E122K,Missense_E122K variant.5996 1 119927488 [T/C] NM_016527,NM_001005783 HAO2,HAO2 EXON Nonsense_R125X,Nonsense_R125X exm88818 1 119927663 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_Q183R,Missense_Q183R exm88819 1 119927674 [A/C] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_K187Q,Missense_K187Q exm88823 1 119929273 [T/C] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_T197I,Missense_T197I indel.5998 1 119929335 [D/I] NM_016527,NM_001005783 HAO2,HAO2 EXON exm88832 1 119929417 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_N245S,Missense_N245S exm88834 1 119929429 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_R249K,Missense_R249K variant.5999 1 119934875 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Nonsense_W305X,Nonsense_W305X variant.6000 1 119935312 [T/G] NM_016527,NM_001005783 HAO2,HAO2 Silent,Silent exm88845 1 119936414 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_R336Q,Missense_R336Q exm88847 1 119936419 [T/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_V338F,Missense_V338F exm88848 1 119936432 [A/G] NM_016527,NM_001005783 HAO2,HAO2 EXON Missense_N342S,Missense_N342S rs879332 1 119940918 [A/G] 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 rs6661603 1 119974568 [T/C] rs12035458 1 119977687 [T/C] rs1417609 1 119977806 [A/G] rs7546652 1 119990027 [T/C] rs1538987 1 119990185 [T/C] rs10923825 1 119991429 [T/C] rs7528420 1 119994095 [T/C] rs10923829 1 119998830 [A/G] rs6672903 1 119999212 [A/G] rs1361529 1 120000021 [T/C] rs10923830 1 120000183 [T/C] rs12406375 1 120009049 [T/C] rs12406851 1 120011081 [A/G] rs7547046 1 120014607 [T/C] rs6661258 1 120047647 [A/G] rs932603 1 120049735 [T/C] rs6671149 1 120050300 [T/G] NM_000862 HSD3B1 Silent rs3765945 1 120051446 [A/G] NM_000862 HSD3B1 Silent rs7519379 1 120052043 [A/C] NM_000862 HSD3B1 Silent 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 rs7553527 1 120077584 [T/C] rs6681580 1 120083340 [T/G] rs10802112 1 120091434 [T/C] rs10923859 1 120099044 [A/G] rs4659204 1 120110175 [A/C] NR_033781 HSD3BP4 EXON Silent rs10802113 1 120111002 [A/G] NR_033781 HSD3BP4 EXON Silent rs6428833 1 120123179 [A/G] rs10754411 1 120123642 [T/C] rs1923025 1 120138083 [A/G] rs346683 1 120138931 [A/G] rs12057263 1 120143753 [A/G] rs10923875 1 120150949 [T/C] rs2281493 1 120162787 [T/C] NM_001080470 ZNF697 EXON Silent 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 indel.6011 1 120168581 [I/D] NM_001080470 ZNF697 EXON exm89032 1 120168623 [A/G] NM_001080470 ZNF697 EXON Missense_P34L exm89033 1 120168654 [A/C] NM_001080470 ZNF697 EXON Missense_F24V rs10754417 1 120177454 [T/G] NM_001080470 ZNF697 Silent rs838989 1 120182906 [A/G] NM_001080470 ZNF697 Silent rs620741 1 120230079 [A/G] rs1853048 1 120240114 [A/C] rs2764886 1 120241771 [T/C] rs10802132 1 120242537 [T/C] rs12030925 1 120247782 [A/C] exm89058 1 120254732 [T/G] NM_006623 PHGDH EXON Missense_Q29H rs477992 1 120257576 [A/G] NM_006623 PHGDH Silent rs942835 1 120263018 [T/C] NM_006623 PHGDH Silent exm1705339 1 120266004 [G/C] NM_006623 PHGDH EXON Missense_P99R rs3828090 1 120272726 [A/G] NM_006623 PHGDH Silent newrs149128100 1 120277390 [A/G] NM_006623 PHGDH Silent 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 rs543703 1 120285546 [A/G] NM_006623 PHGDH EXON Synonymous_T442T 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 rs536662 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 indel.6023 1 120298105 [D/I] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON 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 indel.6024 1 120300021 [I/D] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON exm89190 1 120300046 [T/G] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_P289H,Missense_P247H variant.6025 1 120301744 [A/G] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Nonsense_Q283X,Nonsense_Q241X 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 indel.6031 1 120307172 [I/D] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON exm89229 1 120307179 [T/G] NM_005518,NM_001166107 HMGCS2,HMGCS2 EXON Missense_L59M,Missense_L59M rs3790694 1 120309441 [A/C] NM_005518,NM_001166107 HMGCS2,HMGCS2 Silent,Silent 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 rs2843016 1 120322961 [A/G] rs2582783 1 120324995 [T/C] newrs1052972 1 120336785 [T/C] NM_001159352,NM_032044 REG4,REG4 EXON Silent,Silent variant.6033 1 120336824 [A/G] NM_001159352,NM_032044 REG4,REG4 EXON Silent,Silent rs699778 1 120336876 [T/G] NM_001159352,NM_032044 REG4,REG4 EXON Silent,Silent 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 variant.6036 1 120345586 [A/C] NM_001159352,NM_032044,NM_001159353 REG4,REG4,REG4 EXON Silent,Silent,Nonsense_Y90X exm89269 1 120345596 [A/G] NM_001159352,NM_032044,NM_001159353 REG4,REG4,REG4 EXON Silent,Silent,Missense_P87L newrs10158202 1 120378615 [A/C] NM_001047980 NBPF7 Silent 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 rs3009186 1 120380990 [T/C] NM_001047980 NBPF7 Silent 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 rs10923916 1 120409703 [A/C] rs12060624 1 120415364 [T/C] rs10802138 1 120434626 [A/C] variant.6045 1 120436657 [T/G] NM_021794 ADAM30 EXON Missense_Q768P variant.6046 1 120436681 [T/C] NM_021794 ADAM30 EXON Missense_E760G exm1705481 1 120436711 [T/C] NM_021794 ADAM30 EXON Missense_Q750R indel.6047 1 120436717 [I/D] NM_021794 ADAM30 EXON 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 indel.6049 1 120437013 [I/D] NM_021794 ADAM30 EXON exm89408 1 120437207 [A/T] NM_021794 ADAM30 EXON Missense_M585L variant.6051 1 120437351 [A/C] NM_021794 ADAM30 EXON Nonsense_E537X exm89412 1 120437471 [T/C] NM_021794 ADAM30 EXON Missense_R497G newrs140489804 1 120437678 [A/G] NM_021794 ADAM30 EXON Nonsense_Q428X 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 indel.6054 1 120438556 [D/I] NM_021794 ADAM30 EXON 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 rs835575 1 120456563 [T/G] NM_024408 NOTCH2 EXON Silent 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 newrs118188023 1 120469122 [T/C] NM_024408 NOTCH2 EXON Synonymous_P1335P 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 indel.6056 1 120478212 [D/I] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON 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 rs1493696 1 120505532 [A/G] NM_024408,NM_001200001 NOTCH2,NOTCH2 Silent,Silent 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 rs10923932 1 120523754 [T/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 Silent,Silent exm2230941 1 120548070 [A/C] NM_024408,NM_001200001 NOTCH2,NOTCH2 EXON Missense_E99D,Missense_E99D rs6683357 1 121164607 [A/G] rs4844616 1 121171208 [A/G] rs4844381 1 121184898 [T/C] exm2268748 1 121184898 [T/C] exm-rs6600671 1 121200490 [T/G] rs6600667 1 121221334 [A/C] rs6600662 1 121230790 [A/G] exm2268931 1 121239763 [T/G] rs11249342 1 121239763 [T/G] exm-rs11249433 1 121280613 [A/G] NR_003955 EMBP1 Silent rs2222371 1 121289118 [T/C] NR_003955 EMBP1 Silent exm2264897 1 142649718 [A/G] kgp3844844 1 142692818 [A/G] kgp4374968 1 144479557 [T/G] exm89960 1 144816621 [A/G] NM_001037675 NBPF9 EXON Missense_N509S indel.6062 1 144852393 [D/I] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON 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 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 variant.6064 1 144876030 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP Silent,Silent,Silent variant.6065 1 144879035 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_G1428E,Missense_G1472E,Missense_G1472E 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 variant.6069 1 144882441 [T/C] NM_001198832,NM_001198834,NM_014644 PDE4DIP,PDE4DIP,PDE4DIP Silent,Silent,Silent 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 variant.6071 1 144892496 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP Silent,Silent,Silent,Silent,Silent exm2268753 1 144894611 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP Silent,Silent,Silent,Silent,Silent exm90407 1 144903149 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_S981G,Missense_S915G,Missense_S915G,Missense_S1078G,Missense_S915G indel.6073 1 144909884 [I/D] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON exm90428 1 144911894 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R805G,Missense_R739G,Missense_R739G,Missense_R902G,Missense_R739G exm90437 1 144911949 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_I786M,Missense_I720M,Missense_I720M,Missense_I883M,Missense_I720M exm90446 1 144912191 [T/G] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_P761H,Missense_P695H,Missense_P695H,Missense_P858H,Missense_P695H exm2231046 1 144915569 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R685H,Missense_R619H,Missense_R619H,Missense_R782H,Missense_R619H exm90469 1 144916643 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R637H,Missense_R571H,Missense_R571H,Missense_R734H,Missense_R571H exm1710122 1 144916644 [A/G] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R637C,Missense_R571C,Missense_R571C,Missense_R734C,Missense_R571C variant.6075 1 144916675 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Nonsense_W626X,Nonsense_W560X,Nonsense_W560X,Nonsense_W723X,Nonsense_W560X exm90472 1 144916746 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_M603V,Missense_M537V,Missense_M537V,Missense_M700V,Missense_M537V exm90482 1 144917567 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_V579M,Missense_V513M,Missense_V513M,Missense_V676M,Missense_V513M exm90489 1 144917636 [A/G] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R556W,Missense_R490W,Missense_R490W,Missense_R653W,Missense_R490W exm90499 1 144918930 [A/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R485L,Missense_R419L,Missense_R419L,Missense_R582L,Missense_R419L exm90501 1 144918954 [A/G] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_L477S,Missense_L411S,Missense_L411S,Missense_L574S,Missense_L411S exm90503 1 144918972 [T/G] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_Q471P,Missense_Q405P,Missense_Q405P,Missense_Q568P,Missense_Q405P exm90504 1 144918984 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R467Q,Missense_R401Q,Missense_R401Q,Missense_R564Q,Missense_R401Q exm90507 1 144921857 [T/G] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_E457A,Missense_E391A,Missense_E391A,Missense_E554A,Missense_E391A exm90515 1 144921950 [G/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R426T,Missense_R360T,Missense_R360T,Missense_R523T,Missense_R360T variant.6077 1 144922249 [A/G] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Nonsense_Q373X,Nonsense_Q307X,Nonsense_Q307X,Nonsense_Q470X,Nonsense_Q307X exm90526 1 144922252 [G/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_G372R,Missense_G306R,Missense_G306R,Missense_G469R,Missense_G306R variant.6079 1 144922518 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP Silent,Silent,Silent,Silent,Silent exm90532 1 144922524 [A/G] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_R361C,Missense_R295C,Missense_R295C,Missense_R458C,Missense_R295C exm90540 1 144922638 [A/T] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_I323F,Missense_I257F,Missense_I257F,Missense_I420F,Missense_I257F exm90542 1 144923712 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_Q315R,Missense_Q249R,Missense_Q249R,Missense_Q412R,Missense_Q249R variant.6080 1 144930579 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP Silent,Silent,Silent,Silent,Silent indel.6081 1 144930642 [D/I] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON exm90565 1 144930756 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Missense_S318N,Silent exm90569 1 144930790 [A/G] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Nonsense_R307X,Silent exm90570 1 144930802 [T/G] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Missense_I303L,Silent exm90571 1 144930805 [G/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Missense_P302A,Silent exm90572 1 144930816 [A/G] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Missense_L298P,Silent indel.6083 1 144930910 [D/I] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON exm90581 1 144930936 [A/T] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Missense_D258V,Silent exm90583 1 144930960 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Missense_Q250R,Silent exm90589 1 144930994 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Missense_G239S,Silent exm90606 1 144931218 [C/G] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Missense_P164R,Silent exm90616 1 144931387 [T/G] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Missense_I108L,Silent variant.6084 1 144931471 [A/G] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Nonsense_Q80X,Silent exm1710163 1 144931507 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Missense_I68V,Silent exm90629 1 144931532 [A/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Missense_D59E,Silent exm90634 1 144931581 [C/G] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Missense_R43P,Silent exm90639 1 144931626 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002811,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Silent,Silent,Silent,Missense_N28S,Silent variant.6085 1 144946627 [A/G] NM_001198832,NM_001198834,NM_014644,NM_001002812 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Nonsense_Q278X,Nonsense_Q212X,Nonsense_Q212X,Nonsense_Q212X 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_001195260,NM_022359,NM_001002810,NM_001195261 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_S87I,Missense_S21I,Missense_S21I,Missense_S21I,Silent,Missense_S158I,Missense_S21I,Missense_S24I exm90689 1 144994694 [T/C] NM_001198832,NM_001198834,NM_014644,NM_001002812,NM_001195260,NM_022359,NM_001002810,NM_001195261 PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP,PDE4DIP EXON Missense_N79S,Missense_N13S,Missense_N13S,Missense_N13S,Silent,Missense_N150S,Missense_N13S,Missense_N16S 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 kgp2087890 1 145383239 [T/C] kgp622307 1 145387186 [T/G] rs10797649 1 145394955 [A/C] rs16827043 1 145395440 [A/G] exm-rs12091564 1 145395604 [T/C] exm91016 1 145415567 [T/C] NM_213652,NM_145277,NM_213653,NM_202004 HFE2,HFE2,HFE2,HFE2 EXON Silent,Missense_P16L,Missense_P129L,Silent exm91023 1 145415669 [G/C] NM_213652,NM_145277,NM_213653,NM_202004 HFE2,HFE2,HFE2,HFE2 EXON Silent,Missense_G50A,Missense_G163A,Silent rs10218795 1 145416056 [T/C] NM_213652,NM_145277,NM_213653,NM_202004 HFE2,HFE2,HFE2,HFE2 Silent,Silent,Silent,Silent exm91030 1 145416337 [A/C] NM_213652,NM_145277,NM_213653,NM_202004 HFE2,HFE2,HFE2,HFE2 EXON Missense_Q2K,Missense_Q115K,Missense_Q228K,Missense_Q2K exm91041 1 145416559 [A/G] NM_213652,NM_145277,NM_213653,NM_202004 HFE2,HFE2,HFE2,HFE2 EXON Missense_E76K,Missense_E189K,Missense_E302K,Missense_E76K exm91044 1 145416584 [G/C] NM_213652,NM_145277,NM_213653,NM_202004 HFE2,HFE2,HFE2,HFE2 EXON Missense_A84G,Missense_A197G,Missense_A310G,Missense_A84G exm91049 1 145416631 [T/C] NM_213652,NM_145277,NM_213653,NM_202004 HFE2,HFE2,HFE2,HFE2 EXON Nonsense_R100X,Nonsense_R213X,Nonsense_R326X,Nonsense_R100X exm2268754 1 145421477 [T/C] rs4970862 1 145421477 [T/C] rs6661602 1 145428296 [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 indel.6100 1 145440919 [I/D] NM_006472 TXNIP EXON exm91110 1 145440941 [A/G] NM_006472 TXNIP EXON Missense_R343Q indel.6101 1 145441046 [I/D] NM_006472 TXNIP EXON indel.6102 1 145441052 [D/I] NM_006472 TXNIP EXON rs4636400 1 145444556 [T/G] rs16827280 1 145455785 [T/C] exm91122 1 145457007 [T/C] NM_032305 POLR3GL EXON Missense_E185G variant.6103 1 145457543 [T/C] NM_032305 POLR3GL Silent variant.6104 1 145457547 [A/C] NM_032305 POLR3GL Silent rs6672807 1 145460000 [A/G] NM_032305 POLR3GL Silent 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 rs833943 1 145479219 [T/C] NM_153713 LIX1L Silent newrs59285351 1 145508146 [A/C] NM_005105 RBM8A Silent exm2265040 1 145517063 [A/G] NR_073491,NM_003846,NR_073492,NM_001184795,NR_073493 PEX11B,PEX11B,PEX11B,PEX11B,PEX11B EXON Silent,Silent,Silent,Silent,Silent exm91253 1 145518173 [A/G] NR_073491,NM_003846,NR_073492,NM_001184795,NR_073493 PEX11B,PEX11B,PEX11B,PEX11B,PEX11B EXON Silent,Missense_N92S,Silent,Missense_N78S,Silent exm91254 1 145518235 [T/C] NR_073491,NM_003846,NR_073492,NM_001184795,NR_073493 PEX11B,PEX11B,PEX11B,PEX11B,PEX11B EXON Silent,Missense_R113C,Silent,Missense_R99C,Silent exm91274 1 145522824 [T/C] NR_073491,NM_003846,NR_073492,NM_001184795,NR_073493 PEX11B,PEX11B,PEX11B,PEX11B,PEX11B EXON Silent,Missense_R229C,Silent,Missense_R215C,Silent exm91279 1 145525085 [T/C] NM_003637 ITGA10 EXON Missense_T7I rs12082225 1 145526777 [A/C] NM_003637 ITGA10 Silent exm2231073 1 145527691 [A/G] NM_003637 ITGA10 EXON Missense_S44N exm91288 1 145527693 [A/G] NM_003637 ITGA10 EXON Missense_V45I newrs191112048 1 145528037 [A/G] NM_003637 ITGA10 EXON Missense_G92S exm91304 1 145528634 [A/G] NM_003637 ITGA10 EXON Missense_R144H variant.6118 1 145530350 [T/C] NM_003637 ITGA10 EXON Nonsense_R189X 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 variant.6123 1 145535888 [A/G] NM_003637 ITGA10 EXON Nonsense_W692X 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 rs1109216 1 145538664 [A/G] NM_003637 ITGA10 Silent 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 indel.6130 1 145542253 [D/I] NM_003637 ITGA10 EXON exm91434 1 145542255 [A/G] NM_003637 ITGA10 EXON Missense_R1161G exm91436 1 145542273 [T/C] NM_003637 ITGA10 EXON Nonsense_Q1167X newrs142018351 1 145542273 [T/C] NM_003637 ITGA10 EXON Nonsense_Q1167X rs12401622 1 145548864 [T/C] 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 newrs151076205 1 145558913 [T/C] NM_144698 ANKRD35 EXON Nonsense_R178X 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 variant.6145 1 145561324 [T/C] NM_144698 ANKRD35 EXON Nonsense_R338X exm91527 1 145561330 [T/C] NM_144698 ANKRD35 EXON Nonsense_Q340X exm91528 1 145561334 [T/C] NM_144698 ANKRD35 EXON Missense_A341V indel.6147 1 145561460 [I/D] NM_144698 ANKRD35 EXON indel.6148 1 145561474 [I/D] NM_144698 ANKRD35 EXON 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 1KG_1_145562155 1 145562155 [D/I] NM_144698 ANKRD35 EXON 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 rs10797652 1 145564518 [A/G] NM_144698 ANKRD35 Silent variant.6156 1 145566776 [A/G] NM_144698 ANKRD35 Silent exm91614 1 145567084 [A/G] NM_144698 ANKRD35 EXON Missense_N978D indel.6157 1 145567718 [I/D] NM_144698 ANKRD35 EXON exm91622 1 145576091 [T/G] NM_006099 PIAS3 EXON Missense_G5C variant.6158 1 145578224 [T/C] NM_006099 PIAS3 EXON Nonsense_R63X exm91642 1 145578279 [A/C] NM_006099 PIAS3 EXON Missense_P81H exm91648 1 145578333 [T/C] NM_006099 PIAS3 EXON Missense_T99M variant.6160 1 145579270 [T/C] NM_006099 PIAS3 EXON Nonsense_Q203X 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 variant.6161 1 145585422 [T/C] NM_006099 PIAS3 EXON Nonsense_R563X 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 newrs144514921 1 145587476 [A/G] NM_001012758 NUDT17 EXON Nonsense_Q202X exm91764 1 145587481 [T/C] NM_001012758 NUDT17 EXON Missense_R200Q variant.6172 1 145587740 [A/C] NM_001012758 NUDT17 EXON Nonsense_E192X 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 variant.6178 1 145592768 [A/C] NM_006468 POLR3C EXON Missense_L509F variant.6179 1 145595118 [T/C] NM_006468 POLR3C Silent exm91828 1 145596903 [A/C] NM_006468 POLR3C Silent indel.6181 1 145597000 [I/D] NM_006468 POLR3C EXON 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 rs11587821 1 145599038 [T/G] NM_006468 POLR3C Silent 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 variant.6185 1 145608249 [A/G] NM_006468 POLR3C EXON Nonsense_R150X variant.6186 1 145608509 [T/C] NM_006468 POLR3C EXON Missense_S100G indel.6187 1 145608524 [I/D] NM_006468 POLR3C EXON 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 rs4246521 1 145625979 [T/C] NM_014455 RNF115 Silent rs10752832 1 145657708 [A/G] NM_014455 RNF115 Silent exm91925 1 145688153 [A/G] NM_014455 RNF115 EXON Missense_S283N indel.6188 1 145688190 [I/D] NM_014455 RNF115 EXON rs10910843 1 145691112 [A/G] indel.6189 1 145698921 [I/D] NM_007053 CD160 exm91941 1 145698959 [A/G] NM_007053 CD160 EXON Missense_L178F indel.6192 1 145704082 [D/I] NM_007053 CD160 EXON 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 rs10910845 1 145723120 [A/C] exm-rs12129861 1 145725689 [A/G] rs1298954 1 145730160 [A/G] NM_002614,NM_001201325,NM_001201326 PDZK1,PDZK1,PDZK1 Silent,Silent,Silent exm2264899 1 145730160 [A/G] NM_002614,NM_001201325,NM_001201326 PDZK1,PDZK1,PDZK1 Silent,Silent,Silent exm91970 1 145747065 [T/C] NM_002614,NM_001201325,NM_001201326 PDZK1,PDZK1,PDZK1 EXON Nonsense_R8X,Nonsense_R8X,Nonsense_R8X variant.6197 1 145747116 [T/C] NM_002614,NM_001201325,NM_001201326 PDZK1,PDZK1,PDZK1 EXON Nonsense_R25X,Nonsense_R25X,Nonsense_R25X indel.6198 1 145748588 [I/D] NM_002614,NM_001201325,NM_001201326 PDZK1,PDZK1,PDZK1 exm2231083 1 145765424 [A/G] NM_001097612,NM_001097613,NR_036541 GPR89A,GPR89A,GPR89A EXON Missense_A369V,Missense_A344V,Silent exm2231084 1 145765425 [T/C] NM_001097612,NM_001097613,NR_036541 GPR89A,GPR89A,GPR89A EXON Missense_A369T,Missense_A344T,Silent kgp15590673 1 146330584 [A/G] NR_049745 HYDIN2 EXON Silent rs10900384 1 146501348 [T/C] NR_024442 LOC728989 Silent rs12142005 1 146506691 [T/C] NR_024442 LOC728989 Silent rs1853782 1 146508774 [T/C] NR_024442 LOC728989 Silent exm-rs12122100 1 146508934 [T/C] NR_024442 LOC728989 Silent rs1969869 1 146510112 [T/G] NR_024442 LOC728989 Silent rs6661540 1 146512899 [A/G] NR_024442 LOC728989 Silent rs6657631 1 146517465 [A/G] rs580852 1 146523045 [A/G] rs647596 1 146535394 [A/C] rs2477569 1 146547809 [T/G] rs4950357 1 146556146 [T/C] rs1867142 1 146556821 [T/G] exm-rs11239930 1 146560564 [A/G] rs976620 1 146564908 [A/C] exm2265041 1 146568955 [A/G] rs750467 1 146589758 [T/C] kgp25313033 1 146626803 [A/G] NM_005399 PRKAB2 EXON Silent rs6937 1 146626922 [T/C] NM_005399 PRKAB2 EXON Silent kgp15787611 1 146627109 [G/C] NM_005399 PRKAB2 EXON Silent kgp25038084 1 146627315 [A/G] NM_005399 PRKAB2 EXON Silent kgp15552278 1 146627432 [A/G] NM_005399 PRKAB2 EXON Silent kgp10263715 1 146628374 [A/C] NM_005399 PRKAB2 EXON Silent kgp1727928 1 146628479 [G/C] NM_005399 PRKAB2 EXON Silent kgp4942404 1 146628635 [A/G] NM_005399 PRKAB2 EXON Silent kgp5680701 1 146628742 [T/G] NM_005399 PRKAB2 EXON Silent kgp15898250 1 146629288 [T/C] NM_005399 PRKAB2 EXON Silent kgp22822212 1 146629402 [T/C] NM_005399 PRKAB2 EXON Silent kgp15448676 1 146629417 [T/C] NM_005399 PRKAB2 EXON Silent kgp15689928 1 146629463 [T/C] NM_005399 PRKAB2 EXON Silent kgp10292846 1 146629691 [A/C] NM_005399 PRKAB2 EXON Silent kgp15656074 1 146629797 [T/A] NM_005399 PRKAB2 EXON Silent kgp10078254 1 146629916 [T/C] NM_005399 PRKAB2 EXON Silent kgp15787125 1 146629981 [A/G] NM_005399 PRKAB2 EXON Silent kgp15189603 1 146630048 [A/G] NM_005399 PRKAB2 EXON Silent kgp3614852 1 146630173 [A/C] NM_005399 PRKAB2 EXON Silent kgp25106138 1 146630292 [A/C] NM_005399 PRKAB2 EXON Silent kgp15661136 1 146630503 [T/C] NM_005399 PRKAB2 EXON Silent kgp24787628 1 146630811 [A/G] NM_005399 PRKAB2 EXON Silent rs2304893 1 146630916 [T/C] NM_005399 PRKAB2 EXON Silent rs1036851 1 146633750 [T/C] NM_005399 PRKAB2 Silent exm92112 1 146638152 [T/C] NM_005399 PRKAB2 EXON Missense_V155I exm92120 1 146639505 [T/C] NM_005399 PRKAB2 EXON Missense_G55E kgp15870028 1 146639505 [T/C] NM_005399 PRKAB2 EXON Missense_G55E rs1348316 1 146643555 [A/G] NM_005399 PRKAB2 Silent kgp4905185 1 146643580 [A/G] NM_005399 PRKAB2 EXON Synonymous_L48L rs4950382 1 146648224 [T/C] rs720609 1 146653028 [T/C] kgp6053991 1 146656040 [T/C] NM_001144829 FMO5 EXON Silent kgp25065922 1 146656179 [A/G] NM_001144829 FMO5 EXON Synonymous_P429P kgp8954974 1 146658360 [A/G] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Silent,Silent,Silent exm92138 1 146658563 [A/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Silent,Missense_R506S,Silent exm92141 1 146658604 [T/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Silent,Missense_D493N,Silent rs7512450 1 146660395 [A/G] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 Silent,Silent,Silent rs28381218 1 146661814 [G/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Missense_P400A,Missense_P400A,Missense_A282G exm92153 1 146672745 [T/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Missense_Q391R,Missense_Q391R,Silent exm92157 1 146672815 [T/G] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Missense_I368L,Missense_I368L,Silent indel.6213 1 146672849 [D/I] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON rs1044848 1 146672866 [A/G] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Missense_S351P,Missense_S351P,Silent rs894469 1 146672906 [T/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Synonymous_P337P,Synonymous_P337P,Silent exm92166 1 146672962 [T/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Missense_R319G,Missense_R319G,Silent newrs145231434 1 146673001 [A/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Nonsense_E306X,Nonsense_E306X,Silent variant.6215 1 146673088 [T/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 Silent,Silent,Silent newrs140667185 1 146680442 [A/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Nonsense_E268X,Nonsense_E268X,Nonsense_E268X exm92186 1 146680559 [T/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Missense_G229R,Missense_G229R,Missense_G229R exm92189 1 146680614 [A/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 Silent,Silent,Silent variant.6218 1 146684047 [A/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Nonsense_G182X,Nonsense_G182X,Nonsense_G182X exm92191 1 146684060 [A/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Nonsense_Y177X,Nonsense_Y177X,Nonsense_Y177X var_1_146684060 1 146684060 [A/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Nonsense_Y177X,Nonsense_Y177X,Nonsense_Y177X variant.6220 1 146684078 [T/G] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Nonsense_Y171X,Nonsense_Y171X,Nonsense_Y171X exm92194 1 146684095 [T/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Missense_K166E,Missense_K166E,Missense_K166E rs2297753 1 146684131 [A/G] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 Silent,Silent,Silent variant.6223 1 146684887 [A/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Nonsense_E159X,Nonsense_E159X,Nonsense_E159X 1KG_1_146687322 1 146687322 [D/I] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 exm92208 1 146687509 [T/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Missense_N47D,Missense_N47D,Missense_N47D exm-rs10900325 1 146692174 [T/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 Silent,Silent,Silent rs2354432 1 146693229 [T/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 Silent,Silent,Silent exm2268755 1 146694922 [T/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 Silent,Silent,Silent variant.6226 1 146696482 [T/G] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 Silent,Silent,Silent indel.6227 1 146696659 [D/I] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON kgp25321246 1 146696828 [A/C] NM_001144829,NM_001461,NM_001144830 FMO5,FMO5,FMO5 EXON Silent,Silent,Silent rs6703187 1 146698906 [A/G] rs11239951 1 146709784 [T/C] rs11239953 1 146717564 [T/C] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L Silent,Silent,Silent,Silent,Silent,Silent exm92239 1 146727553 [T/C] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_R32C,Missense_R45C,Missense_R145C,Silent,Silent rs12736102 1 146729348 [T/C] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L Silent,Silent,Silent,Silent,Silent,Silent exm92256 1 146736111 [A/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_G90R,Missense_G103R,Missense_G203R,Silent,Silent indel.6232 1 146736175 [I/D] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON variant.6233 1 146736191 [A/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Synonymous_E116E,Synonymous_E129E,Synonymous_E229E,Silent,Silent variant.6234 1 146736194 [A/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Synonymous_V117V,Synonymous_V130V,Synonymous_V230V,Silent,Silent exm92263 1 146736211 [A/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_R123H,Missense_R136H,Missense_R236H,Silent,Silent newrs144288940 1 146737632 [T/C] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Nonsense_R148X,Nonsense_R161X,Nonsense_R261X,Nonsense_R57X,Silent exm92270 1 146737632 [T/C] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Nonsense_R148X,Nonsense_R161X,Nonsense_R261X,Nonsense_R57X,Silent exm2249882 1 146737700 [A/C] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Synonymous_S170S,Synonymous_S183S,Synonymous_S283S,Synonymous_S79S,Synonymous_S2S exm92288 1 146740502 [C/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_H237Q,Missense_H250Q,Missense_H350Q,Missense_H146Q,Missense_H69Q indel.6237 1 146747130 [I/D] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON exm92304 1 146747766 [A/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L Silent,Silent,Silent,Silent,Silent,Silent exm92306 1 146747797 [A/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_R359Q,Missense_R372Q,Missense_R472Q,Missense_R268Q,Missense_R191Q rs6687544 1 146749067 [T/C] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L Silent,Silent,Silent,Silent,Silent,Silent indel.6240 1 146751742 [I/D] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON exm92316 1 146751782 [A/C] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Synonymous_I428I,Synonymous_I441I,Synonymous_I541I,Synonymous_I337I,Synonymous_I260I exm2249883 1 146751782 [A/C] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Synonymous_I428I,Synonymous_I441I,Synonymous_I541I,Synonymous_I337I,Synonymous_I260I variant.6242 1 146756149 [T/C] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Nonsense_R498X,Nonsense_R511X,Nonsense_R611X,Nonsense_R407X,Nonsense_R330X indel.6244 1 146757075 [I/D] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON indel.6245 1 146757112 [I/D] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON indel.6246 1 146757118 [I/D] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON exm92336 1 146757134 [A/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_R550K,Missense_R563K,Missense_R663K,Missense_R459K,Missense_R382K exm92343 1 146758029 [C/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_E578D,Missense_E591D,Missense_E691D,Missense_E487D,Missense_E410D exm92345 1 146758054 [A/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_G587R,Missense_G600R,Missense_G700R,Missense_G496R,Missense_G419R exm92347 1 146758135 [A/C] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_P614T,Missense_P627T,Missense_P727T,Missense_P523T,Missense_P446T exm92348 1 146758168 [T/C] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_H625Y,Missense_H638Y,Missense_H738Y,Missense_H534Y,Missense_H457Y newrs190301424 1 146759364 [T/C] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Nonsense_R645X,Nonsense_R658X,Nonsense_R758X,Nonsense_R554X,Nonsense_R477X exm92357 1 146759387 [A/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_I652M,Missense_I665M,Missense_I765M,Missense_I561M,Missense_I484M var_1_146759412 1 146759412 [A/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_D661N,Missense_D674N,Missense_D774N,Missense_D570N,Missense_D493N exm92361 1 146763171 [T/A] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_S663R,Missense_S676R,Missense_S776R,Missense_S572R,Missense_S495R rs7526996 1 146764376 [T/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L Silent,Silent,Silent,Silent,Silent,Silent newrs149664186 1 146765310 [T/C] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Nonsense_Q691X,Nonsense_Q704X,Nonsense_Q804X,Nonsense_Q600X,Nonsense_Q523X exm92368 1 146765310 [T/C] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Nonsense_Q691X,Nonsense_Q704X,Nonsense_Q804X,Nonsense_Q600X,Nonsense_Q523X exm92369 1 146765317 [A/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_R693H,Missense_R706H,Missense_R806H,Missense_R602H,Missense_R525H exm92371 1 146765358 [G/C] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_L707V,Missense_L720V,Missense_L820V,Missense_L616V,Missense_L539V exm92372 1 146765361 [A/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_E708K,Missense_E721K,Missense_E821K,Missense_E617K,Missense_E540K exm92373 1 146765379 [A/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_I714V,Missense_I727V,Missense_I827V,Missense_I623V,Missense_I546V rs13375602 1 146765617 [T/C] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L Silent,Silent,Silent,Silent,Silent,Silent variant.6253 1 146766089 [A/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L Silent,Silent,Silent,Silent,Silent,Silent exm92381 1 146766126 [A/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_K735E,Missense_K748E,Missense_K848E,Missense_K644E,Missense_K567E exm92385 1 146767149 [T/G] NR_046070,NM_024568,NM_001256336,NM_004284,NM_001256338,NM_001256337 CHD1L,CHD1L,CHD1L,CHD1L,CHD1L,CHD1L EXON Silent,Missense_A772S,Missense_A785S,Missense_A885S,Missense_A681S,Missense_A604S rs11239968 1 146767908 [A/G] rs6593757 1 146769831 [A/G] rs11239984 1 146791729 [A/G] rs2883320 1 146813984 [T/G] rs2353986 1 146821869 [T/C] rs2353975 1 146837703 [A/C] rs12727330 1 146838138 [T/C] rs7522219 1 146838619 [T/C] rs2883318 1 146849143 [A/C] exm-rs4950322 1 146854836 [A/G] NR_038423 LINC00624 EXON Silent rs7539416 1 146881586 [T/C] NR_038423 LINC00624 Silent rs2353958 1 146913370 [A/G] NR_038423 LINC00624 Silent rs4950437 1 146927395 [A/C] NR_038423 LINC00624 Silent rs7525162 1 146930254 [A/G] NR_038423 LINC00624 Silent rs6674761 1 146942884 [T/C] NR_038423 LINC00624 Silent rs10900374 1 146970946 [A/G] NR_038423 LINC00624 Silent rs596561 1 146980988 [A/G] NR_038423 LINC00624 Silent rs17160305 1 146981725 [A/G] NR_038423 LINC00624 Silent rs12141187 1 146982763 [T/C] NR_038423 LINC00624 Silent rs4950328 1 147004811 [T/C] rs10900376 1 147013362 [A/G] NM_004326 BCL9 EXON Silent rs1027424 1 147018361 [A/G] NM_004326 BCL9 Silent rs594206 1 147020456 [A/G] NM_004326 BCL9 Silent rs1015235 1 147043542 [A/G] NM_004326 BCL9 Silent rs2353544 1 147048600 [A/G] NM_004326 BCL9 Silent rs614502 1 147057224 [T/G] NM_004326 BCL9 Silent exm2268935 1 147060091 [T/C] NM_004326 BCL9 Silent rs1390507 1 147060234 [T/C] NM_004326 BCL9 Silent rs12122799 1 147082026 [A/G] NM_004326 BCL9 Silent rs677977 1 147083744 [T/C] NM_004326 BCL9 Silent exm92390 1 147084683 [A/G] NM_004326 BCL9 EXON Missense_S19G indel.6254 1 147084783 [I/D] NM_004326 BCL9 EXON 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 rs1344 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 rs2153463 1 147124310 [T/G] NM_016361 ACP6 EXON Synonymous_R275R 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 rs3766509 1 147130275 [A/G] NM_016361 ACP6 Silent rs33965274 1 147130661 [T/C] NM_016361 ACP6 Silent 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 newrs79500703 1 147131757 [T/C] NM_016361 ACP6 Silent exm92652 1 147131811 [A/G] NM_016361 ACP6 EXON Missense_P100L rs3766506 1 147137368 [T/C] NM_016361 ACP6 Silent rs3766505 1 147138895 [A/G] NM_016361 ACP6 Silent exm92655 1 147142037 [T/C] NM_016361 ACP6 EXON Missense_R45H exm92658 1 147142059 [T/C] NM_016361 ACP6 EXON Missense_D38N rs7545497 1 147162445 [T/G] rs1001193 1 147166377 [A/G] rs1342710 1 147173505 [A/G] rs11577892 1 147194005 [T/G] rs6593803 1 147205770 [T/C] rs999095 1 147210227 [A/G] rs1342700 1 147211298 [A/C] rs4031118 1 147220326 [T/C] rs7513213 1 147221438 [T/C] rs17160597 1 147224252 [A/G] rs4950343 1 147224879 [T/C] rs1043806 1 147229299 [A/G] NM_005266,NM_181703 GJA5,GJA5 EXON Silent,Silent exm92667 1 147230352 [T/C] NM_005266,NM_181703 GJA5,GJA5 EXON Missense_R332H,Missense_R332H variant.6263 1 147230443 [A/G] NM_005266,NM_181703 GJA5,GJA5 EXON Nonsense_R302X,Nonsense_R302X exm92671 1 147230554 [A/G] NM_005266,NM_181703 GJA5,GJA5 EXON Missense_P265S,Missense_P265S exm92698 1 147231334 [T/C] NM_005266,NM_181703 GJA5,GJA5 EXON Missense_S5G,Missense_S5G rs2047280 1 147236233 [T/C] NM_005266 GJA5 Silent rs1495956 1 147238486 [A/G] NM_005266 GJA5 Silent rs10793705 1 147240307 [T/C] NM_005266 GJA5 Silent rs12408247 1 147244441 [T/C] NM_005266 GJA5 Silent rs952477 1 147250196 [T/C] rs10494257 1 147254569 [T/C] rs1342709 1 147277764 [T/C] rs11240130 1 147283701 [A/G] rs11240132 1 147285745 [T/C] rs1086602 1 147288818 [T/C] rs8179281 1 147308112 [T/G] rs6664767 1 147309443 [T/G] rs1353428 1 147326222 [A/C] exm2263835 1 147326222 [A/C] rs10900403 1 147340734 [T/G] rs9438040 1 147357928 [T/C] rs903785 1 147364076 [A/C] rs28386775 1 147371120 [T/C] rs9437981 1 147373447 [A/G] rs7541950 1 147375981 [T/C] NM_005267 GJA8 Silent 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 var_1_147381355 1 147381355 [T/C] NM_005267 GJA8 EXON Nonsense_R425X kgp6303375 1 147706692 [T/G] kgp6703373 1 147719551 [A/G] rs1875836 1 147729232 [T/C] rs4950524 1 147782284 [T/G] rs578985 1 147785091 [T/C] rs1763457 1 147795678 [T/C] rs10907371 1 147803005 [T/G] rs2992458 1 147806652 [A/G] NR_049810 MIR5087 EXON Silent rs481176 1 147807277 [A/G] rs1805204 1 147814694 [T/C] rs3009468 1 147825454 [A/G] rs515565 1 147825548 [T/C] rs2999617 1 147825662 [T/C] indel.6274 1 148346697 [D/I] kgp2350919 1 148529087 [A/G] kgp1115875 1 148544983 [A/G] exm2268756 1 148551025 [T/C] var_1_148594506 1 148594507 [I/D] NM_001170755,NM_173638,NM_001102663 NBPF15,NBPF15,NBPF16 EXON kgp415599 1 149234524 [A/G] kgp7723817 1 149665167 [A/G] NR_046136,NR_046138,NR_046139,NR_046135,NR_046137 FAM91A2,FAM91A2,FAM91A2,FAM91A2,FAM91A2 Silent,Silent,Silent,Silent,Silent kgp6102321 1 149680227 [A/G] rs3738319 1 149815323 [A/G] rs7531664 1 149815536 [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 variant.6301 1 149902791 [A/C] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Nonsense_E381X,Nonsense_E453X exm93858 1 149902853 [A/G] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_P360L,Missense_P432L indel.6302 1 149903835 [D/I] NM_181873,NM_001145862 MTMR11,MTMR11 newrs150224850 1 149904175 [A/G] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Nonsense_R273X,Nonsense_R345X 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 variant.6307 1 149907023 [T/C] NM_181873,NM_001145862 MTMR11,MTMR11 Silent,Silent exm93903 1 149907209 [A/G] NM_181873,NM_001145862 MTMR11,MTMR11 EXON Missense_I31T,Missense_I103T variant.6310 1 149915874 [A/G] NM_020205 OTUD7B EXON Missense_P805L exm93925 1 149915911 [A/G] NM_020205 OTUD7B EXON Missense_R793W 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 rs11205308 1 149955163 [A/G] NM_020205 OTUD7B Silent rs3738320 1 149982626 [A/G] NM_020205 OTUD7B EXON Silent rs12060830 1 149995979 [A/C] exm2268758 1 149998494 [T/C] rs2027349 1 150039678 [A/G] NM_007259 VPS45 EXON Silent indel.6315 1 150039958 [I/D] NM_007259 VPS45 EXON 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 variant.6318 1 150064508 [A/G] NM_007259 VPS45 Silent 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] rs6692738 1 150166773 [A/G] rs13375906 1 150175887 [A/G] exm94165 1 150195561 [T/A] NM_030920,NM_001136479,NM_001136478 ANP32E,ANP32E,ANP32E EXON Missense_E229D,Missense_E181D,Missense_E188D exm94174 1 150199062 [T/C] NM_030920,NM_001136479,NM_001136478 ANP32E,ANP32E,ANP32E EXON Missense_E187K,Missense_E139K,Missense_E146K rs7522034 1 150199123 [T/G] NM_030920,NM_001136479,NM_001136478 ANP32E,ANP32E,ANP32E EXON Synonymous_G166G,Synonymous_G118G,Synonymous_G125G exm94182 1 150201406 [T/C] NM_030920,NM_001136479,NM_001136478 ANP32E,ANP32E,ANP32E EXON Synonymous_E164E,Synonymous_E116E,Synonymous_E123E 1KG_1_150201529 1 150201529 [I/D] NM_030920,NM_001136479,NM_001136478 ANP32E,ANP32E,ANP32E EXON rs11205353 1 150224505 [A/G] 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 variant.6327 1 150232567 [A/G] NM_012113 CA14 Silent indel.6328 1 150233894 [I/D] NM_012113 CA14 EXON exm94203 1 150234028 [A/G] NM_012113 CA14 EXON Missense_G83S exm94208 1 150234692 [T/C] NM_012113 CA14 EXON Missense_F131S var_1_150235274 1 150235274 [A/G] NM_012113 CA14 Silent exm94216 1 150235510 [A/G] NM_012113 CA14 EXON Missense_R211H indel.6333 1 150235598 [I/D] NM_012113 CA14 EXON exm94228 1 150235791 [T/C] NM_012113 CA14 EXON Missense_R272C variant.6334 1 150236079 [A/G] NM_012113 CA14 Silent indel.6335 1 150236251 [I/D] NM_012113 CA14 EXON exm94235 1 150236252 [A/G] NM_012113 CA14 EXON Missense_V308I exm1713266 1 150236264 [A/G] NM_012113 CA14 EXON Missense_A312T newrs150286906 1 150236277 [A/G] NM_012113 CA14 EXON Missense_R316Q exm94251 1 150238593 [G/C] NR_045034,NM_016022,NR_045035,NM_001243772,NR_045033,NM_001243771,NM_001077628 APH1A,APH1A,APH1A,APH1A,APH1A,APH1A,APH1A EXON Silent,Silent,Silent,Missense_C175W,Silent,Silent,Missense_C245W var_1_150238957 1 150238957 [A/G] NR_045034,NM_016022,NR_045035,NM_001243772,NR_045033,NM_001243771,NM_001077628 APH1A,APH1A,APH1A,APH1A,APH1A,APH1A,APH1A EXON Silent,Nonsense_R237X,Silent,Nonsense_R167X,Silent,Nonsense_R180X,Nonsense_R237X exm94258 1 150238960 [T/G] NR_045034,NM_016022,NR_045035,NM_001243772,NR_045033,NM_001243771,NM_001077628 APH1A,APH1A,APH1A,APH1A,APH1A,APH1A,APH1A EXON Silent,Missense_L236I,Silent,Missense_L166I,Silent,Missense_L179I,Missense_L236I exm94275 1 150246573 [A/G] NM_024579 C1orf54 EXON Missense_D44N newrs144157837 1 150248148 [A/G] NM_024579 C1orf54 Silent exm94280 1 150248200 [A/G] NM_024579 C1orf54 EXON Missense_D61N rs2274127 1 150252984 [T/G] NM_024579 C1orf54 Silent exm94293 1 150255712 [A/C] NM_144697 C1orf51 EXON Missense_S12Y 1KG_1_150255715 1 150255715 [D/I] NM_144697 C1orf51 EXON 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 var_1_150256915 1 150256915 [T/G] NM_144697 C1orf51 Silent 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 rs10888578 1 150260993 [T/C] rs1776273 1 150270209 [A/G] NM_031901,NM_018997 MRPS21,MRPS21 Silent,Silent exm94338 1 150280621 [T/G] NM_031901,NM_018997 MRPS21,MRPS21 EXON Missense_L75V,Missense_L75V rs1694379 1 150292417 [A/C] rs1260407 1 150306125 [T/C] NM_004698 PRPF3 Silent exm94375 1 150312875 [A/G] NM_004698 PRPF3 EXON Missense_T402A rs11587682 1 150324284 [T/C] NM_004698 PRPF3 Silent rs2794679 1 150324857 [A/G] NM_004698 PRPF3 Silent rs12046899 1 150336468 [T/G] rs12027008 1 150349768 [T/C] NM_015203 RPRD2 Silent rs11582094 1 150371394 [T/G] NM_015203 RPRD2 Silent rs698915 1 150388318 [A/G] NM_015203 RPRD2 Silent 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 rs13057 1 150448688 [T/G] NM_015203 RPRD2 EXON Silent rs34001546 1 150459715 [T/C] exm94520 1 150459992 [A/G] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Synonymous_T22T,Silent,Silent,Synonymous_T22T,Synonymous_T22T newrs151209776 1 150460531 [T/G] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 Silent,Silent,Silent,Silent,Silent exm94535 1 150463919 [A/C] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_L188I,Silent,Silent,Missense_L188I,Missense_L188I exm94536 1 150463923 [A/C] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_T189K,Silent,Silent,Missense_T189K,Missense_T189K exm1713377 1 150464913 [A/G] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_Q241R,Silent,Silent,Silent,Missense_Q241R exm94543 1 150464964 [T/C] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_S258L,Silent,Silent,Silent,Missense_S258L rs12116970 1 150466925 [T/C] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 Silent,Silent,Silent,Silent,Silent exm94551 1 150470019 [A/G] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_H263R,Silent,Silent,Missense_H215R,Missense_H345R exm94552 1 150470061 [T/C] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_T277M,Silent,Silent,Missense_T229M,Missense_T359M exm94557 1 150470145 [T/C] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_P305L,Silent,Silent,Missense_P257L,Missense_P387L exm94564 1 150471037 [T/G] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_F351C,Silent,Silent,Missense_F303C,Missense_F433C exm94569 1 150471093 [T/C] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_R370W,Silent,Silent,Missense_R322W,Missense_R452W variant.6350 1 150471142 [T/G] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 Silent,Silent,Silent,Silent,Silent exm94574 1 150471410 [A/G] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_R398H,Silent,Silent,Missense_R350H,Missense_R480H exm94576 1 150471424 [A/G] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_V403I,Silent,Silent,Missense_V355I,Missense_V485I exm94577 1 150471443 [A/G] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_R409H,Silent,Silent,Missense_R361H,Missense_R491H variant.6351 1 150476850 [T/C] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Nonsense_Q471X,Silent,Silent,Nonsense_Q423X,Nonsense_Q553X exm94587 1 150478134 [A/G] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 EXON Missense_S572N,Silent,Silent,Missense_S524N,Missense_S654N exm2268759 1 150478623 [T/C] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 Silent,Silent,Silent,Silent,Silent rs3754214 1 150478623 [T/C] NM_001271895,NR_073514,NR_073513,NM_001271896,NM_025150 TARS2,TARS2,TARS2,TARS2,TARS2 Silent,Silent,Silent,Silent,Silent exm94605 1 150482145 [A/G] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Missense_A44T,Missense_A44T,Missense_A44T exm94625 1 150483355 [T/C] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Missense_T157M,Missense_T130M,Missense_T130M exm94627 1 150483471 [G/C] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Missense_P196A,Missense_P169A,Missense_P169A exm94632 1 150483580 [A/G] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Missense_R232H,Missense_R205H,Missense_R205H exm94645 1 150484020 [T/C] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Missense_R293W,Silent,Missense_R266W exm94647 1 150484069 [A/G] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Missense_R309Q,Silent,Missense_R282Q exm94651 1 150484180 [A/G] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Missense_R346H,Silent,Missense_R319H exm94652 1 150484191 [T/C] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Missense_R350C,Silent,Missense_R323C exm94655 1 150484257 [T/A] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Missense_F372I,Silent,Missense_F345I exm94656 1 150484273 [A/G] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Missense_R377H,Silent,Missense_R350H exm94665 1 150484897 [T/C] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Missense_R412C,Missense_R260C,Missense_R385C exm94669 1 150484937 [A/G] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Missense_R425H,Missense_R273H,Missense_R398H exm94673 1 150484987 [A/G] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Missense_G442S,Missense_G290S,Missense_G415S exm94674 1 150484991 [A/G] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Missense_R443Q,Missense_R291Q,Missense_R416Q exm94685 1 150485746 [T/C] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Nonsense_R503X,Nonsense_R351X,Nonsense_R476X exm94687 1 150485749 [T/C] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Missense_R504C,Missense_R352C,Missense_R477C variant.6365 1 150485761 [T/C] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Nonsense_R508X,Nonsense_R356X,Nonsense_R481X exm94692 1 150485869 [A/G] NM_001202858,NM_022664,NM_004425 ECM1,ECM1,ECM1 EXON Missense_A544T,Missense_A392T,Missense_A517T rs4971010 1 150515021 [A/G] 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 rs9659073 1 150527354 [A/G] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 Silent,Silent 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 newrs118203985 1 150529450 [T/G] NM_019032,NM_025008 ADAMTSL4,ADAMTSL4 EXON Nonsense_Y595X,Nonsense_Y595X 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 rs6655975 1 150542128 [A/G] exm2231149 1 150549863 [A/G] NM_182763,NM_021960,NM_001197320 MCL1,MCL1,MCL1 EXON Missense_S265P,Synonymous_Y347Y,Synonymous_Y194Y indel.6387 1 150550701 [I/D] NM_182763,NM_021960,NM_001197320 MCL1,MCL1,MCL1 exm94943 1 150550761 [A/C] NM_182763,NM_021960,NM_001197320 MCL1,MCL1,MCL1 EXON Silent,Missense_V299L,Missense_V146L exm94952 1 150550965 [T/G] NM_182763,NM_021960,NM_001197320 MCL1,MCL1,MCL1 EXON Silent,Missense_M231L,Missense_M78L exm94958 1 150551327 [A/G] NM_182763,NM_021960,NM_001197320 MCL1,MCL1,MCL1 EXON Missense_A227V,Missense_A227V,Missense_A74V exm2249920 1 150551419 [T/C] NM_182763,NM_021960,NM_001197320 MCL1,MCL1,MCL1 EXON Synonymous_T196T,Synonymous_T196T,Synonymous_T43T exm94964 1 150551419 [T/C] NM_182763,NM_021960,NM_001197320 MCL1,MCL1,MCL1 EXON Synonymous_T196T,Synonymous_T196T,Synonymous_T43T exm94965 1 150551447 [T/C] NM_182763,NM_021960,NM_001197320 MCL1,MCL1,MCL1 EXON Missense_R187Q,Missense_R187Q,Silent exm94977 1 150551576 [A/G] NM_182763,NM_021960,NM_001197320 MCL1,MCL1,MCL1 EXON Missense_L144P,Missense_L144P,Silent exm94981 1 150551649 [T/C] NM_182763,NM_021960,NM_001197320 MCL1,MCL1,MCL1 EXON Missense_M120V,Missense_M120V,Silent rs11204675 1 150570985 [T/G] rs4970966 1 150584103 [T/G] rs12045807 1 150584834 [T/C] exm95005 1 150598965 [A/G] NM_004436,NM_207042,NM_207045,NM_207046,NM_207044,NM_207047,NM_207043 ENSA,ENSA,ENSA,ENSA,ENSA,ENSA,ENSA EXON Silent,Missense_A74V,Missense_A70V,Silent,Silent,Silent,Missense_A74V exm95011 1 150599849 [T/C] NM_004436,NM_207042,NM_207045,NM_207046,NM_207044,NM_207047,NM_207043,NM_207168 ENSA,ENSA,ENSA,ENSA,ENSA,ENSA,ENSA,ENSA EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_V93I indel.6390 1 150599901 [I/D] NM_004436,NM_207042,NM_207045,NM_207046,NM_207044,NM_207047,NM_207043,NM_207168 ENSA,ENSA,ENSA,ENSA,ENSA,ENSA,ENSA,ENSA EXON variant.6391 1 150601537 [T/C] NM_004436,NM_207042,NM_207045,NM_207046,NM_207044,NM_207047,NM_207043,NM_207168 ENSA,ENSA,ENSA,ENSA,ENSA,ENSA,ENSA,ENSA EXON Silent,Silent,Synonymous_E15E,Synonymous_E15E,Silent,Synonymous_E15E,Silent,Silent exm95026 1 150620852 [T/C] NM_018178 GOLPH3L EXON Missense_K268R variant.6394 1 150620994 [A/G] NM_018178 GOLPH3L EXON Nonsense_R221X exm95031 1 150621007 [G/C] NM_018178 GOLPH3L EXON Missense_Q216H indel.6396 1 150636108 [I/D] NM_018178 GOLPH3L EXON exm95041 1 150636130 [T/C] NM_018178 GOLPH3L EXON Missense_K98R rs16839505 1 150651758 [A/G] NM_018178 GOLPH3L Silent exm-rs11204697 1 150658971 [T/C] NM_018178 GOLPH3L Silent exm95054 1 150667169 [A/G] NM_018178 GOLPH3L EXON Missense_M49T indel.6397 1 150667192 [D/I] NM_018178 GOLPH3L EXON exm2231150 1 150667199 [T/C] NM_018178 GOLPH3L EXON Missense_G39E exm95066 1 150672619 [T/C] NM_032132,NM_001199829 HORMAD1,HORMAD1 EXON Missense_R358Q,Missense_R351Q exm95068 1 150675830 [T/A] NM_032132,NM_001199829 HORMAD1,HORMAD1 EXON Missense_S330T,Missense_S323T rs11807450 1 150677719 [T/C] NM_032132,NM_001199829 HORMAD1,HORMAD1 Silent,Silent exm95078 1 150679030 [T/C] NM_032132,NM_001199829 HORMAD1,HORMAD1 EXON Missense_S268N,Missense_S261N exm95079 1 150679033 [A/G] NM_032132,NM_001199829 HORMAD1,HORMAD1 EXON Missense_T267I,Missense_T260I newrs150156011 1 150679139 [A/G] NM_032132,NM_001199829 HORMAD1,HORMAD1 EXON Nonsense_R232X,Nonsense_R225X newrs147466313 1 150680779 [A/C] NM_032132,NM_001199829 HORMAD1,HORMAD1 EXON Nonsense_L167X,Nonsense_L160X exm95094 1 150684047 [T/C] NM_032132,NM_001199829 HORMAD1,HORMAD1 EXON Missense_V101I,Missense_V94I variant.6404 1 150691963 [A/G] NM_032132,NM_001199829 HORMAD1,HORMAD1 EXON Nonsense_Q7X,Nonsense_Q7X exm95119 1 150722511 [T/C] NM_001199739,NM_004079 CTSS,CTSS EXON Missense_R205H,Missense_R255H indel.6405 1 150724296 [I/D] NM_001199739,NM_004079 CTSS,CTSS EXON rs11576175 1 150727394 [A/G] NM_001199739,NM_004079 CTSS,CTSS Silent,Silent exm1713565 1 150727538 [T/C] NM_001199739,NM_004079 CTSS,CTSS EXON Silent,Missense_R113Q exm95130 1 150727539 [A/G] NM_001199739,NM_004079 CTSS,CTSS EXON Silent,Missense_R113W newrs145551238 1 150737156 [T/C] NM_001199739,NM_004079 CTSS,CTSS EXON Nonsense_W28X,Nonsense_W28X exm95141 1 150737220 [A/G] NM_001199739,NM_004079 CTSS,CTSS EXON Missense_V7A,Missense_V7A rs12125650 1 150760174 [A/G] rs10888395 1 150762171 [T/C] rs4319334 1 150766822 [A/G] rs11958 1 150768758 [T/G] NM_000396 CTSK EXON Silent kgp10791129 1 150771703 [T/C] NM_000396 CTSK EXON Synonymous_A277A 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 kgp24971313 1 150772129 [T/C] NM_000396 CTSK EXON Synonymous_R225R variant.6410 1 150776547 [A/G] NM_000396 CTSK EXON Nonsense_Q190X variant.6411 1 150778372 [A/G] NM_000396 CTSK EXON Nonsense_R122X exm95171 1 150778652 [T/C] NM_000396 CTSK EXON Missense_I57V variant.6412 1 150778685 [A/G] NM_000396 CTSK EXON Missense_R46W kgp6076404 1 150782797 [T/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Silent,Silent,Silent kgp15658851 1 150783042 [T/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Silent,Silent,Silent rs10305754 1 150783139 [A/G] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Silent,Silent,Silent kgp15264178 1 150783166 [A/G] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Silent,Silent,Silent rs10305752 1 150783239 [D/I] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON rs10305751 1 150783458 [T/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Silent,Silent,Silent kgp10026466 1 150783825 [T/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Silent,Silent,Silent kgp5045619 1 150783934 [A/G] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Silent,Silent,Silent rs11552229 1 150783985 [T/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Silent,Silent,Silent kgp15686930 1 150784136 [A/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Silent,Silent,Silent kgp15816954 1 150784491 [A/G] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Silent,Silent,Silent kgp15762369 1 150784492 [T/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Silent,Silent,Silent exm95188 1 150784532 [G/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Missense_P764A,Missense_P763A,Missense_P779A kgp15775548 1 150785747 [T/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Synonymous_P712P,Synonymous_P711P,Synonymous_P727P exm95198 1 150785811 [A/G] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Missense_P691L,Missense_P690L,Missense_P706L rs2275237 1 150785811 [A/G] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Missense_P691L,Missense_P690L,Missense_P706L exm1713582 1 150786567 [T/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Missense_R685H,Missense_R684H,Missense_R700H exm95207 1 150788875 [T/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Missense_G589S,Missense_G589S,Missense_G604S exm95209 1 150789560 [A/G] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Missense_A551V,Missense_A551V,Missense_A566V exm95214 1 150789864 [A/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Missense_D502E,Missense_D502E,Missense_D517E kgp9229586 1 150789884 [T/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Missense_D496N,Missense_D496N,Missense_D511N exm95215 1 150789884 [T/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Missense_D496N,Missense_D496N,Missense_D511N rs2229175 1 150795775 [T/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Missense_R415Q,Missense_R415Q,Missense_R430Q rs17855056 1 150801647 [T/G] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Missense_F348L,Missense_F348L,Missense_F363L exm95240 1 150804339 [T/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Missense_V289M,Missense_V289M,Missense_V304M exm95244 1 150804813 [A/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Missense_C274F,Missense_C274F,Missense_C289F kgp2698943 1 150808889 [G/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Synonymous_V174V,Synonymous_V174V,Synonymous_V189V exm95253 1 150808899 [A/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Missense_V171G,Missense_V171G,Missense_V186G rs10305679 1 150814802 [A/G] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT Silent,Silent,Silent rs17855059 1 150814902 [T/G] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Silent,Silent,Synonymous_A90A exm95278 1 150830859 [T/C] NM_178427,NM_001197325,NM_001668 ARNT,ARNT,ARNT EXON Missense_A35T,Missense_A35T,Missense_A35T rs16827772 1 150852054 [T/C] exm2268760 1 150856153 [T/G] rs7412746 1 150860471 [T/C] rs10399947 1 150861960 [A/G] rs533928 1 150884271 [A/G] rs2292166 1 150884776 [A/G] exm95298 1 150900260 [C/G] NM_001243491,NM_012432,NM_001145415 SETDB1,SETDB1,SETDB1 EXON Missense_E24Q,Missense_E24Q,Missense_E24Q exm95303 1 150900342 [T/C] NM_001243491,NM_012432,NM_001145415 SETDB1,SETDB1,SETDB1 EXON Missense_M51T,Missense_M51T,Missense_M51T exm95330 1 150916469 [T/C] NM_001243491,NM_012432,NM_001145415 SETDB1,SETDB1,SETDB1 EXON Synonymous_L317L,Synonymous_L317L,Synonymous_L317L newrs142077867 1 150916469 [T/C] NM_001243491,NM_012432,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 var_1_150935160 1 150935160 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Nonsense_R1086X,Nonsense_R1086X exm95403 1 150935173 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Missense_A1090V,Missense_A1090V newrs148336558 1 150935195 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Synonymous_D1097D,Synonymous_D1097D exm95411 1 150935614 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Synonymous_T1152T,Synonymous_T1152T rs10157132 1 150935968 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 Silent,Silent indel.6418 1 150936087 [D/I] NM_012432,NM_001145415 SETDB1,SETDB1 EXON exm95422 1 150936217 [T/C] NM_012432,NM_001145415 SETDB1,SETDB1 EXON Synonymous_N1223N,Synonymous_N1223N rs8444 1 150938571 [A/G] NM_181746,NM_022075 CERS2,CERS2 EXON Silent,Silent variant.6420 1 150938638 [A/G] NM_181746,NM_022075 CERS2,CERS2 EXON Missense_R377C,Missense_R377C 1KG_1_150938672 1 150938672 [I/D] NM_181746,NM_022075 CERS2,CERS2 EXON 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] rs3754211 1 150951857 [A/G] 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 var_1_150959142 1 150959142 [T/G] NM_003568 ANXA9 Silent 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 rs11204754 1 150961254 [T/C] NM_003568 ANXA9 Silent variant.6431 1 150967098 [T/C] NM_003568 ANXA9 EXON Nonsense_R300X exm95540 1 150967111 [A/G] NM_003568 ANXA9 EXON Missense_D304G indel.6432 1 150967138 [D/I] NM_003568 ANXA9 EXON exm2273335 1 150969567 [A/G] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Silent,Silent,Silent,Silent,Silent variant.6433 1 150970049 [T/G] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A Silent,Silent,Silent,Silent,Silent exm95555 1 150970119 [A/G] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Missense_T485M,Missense_T342M,Missense_T295M,Missense_T295M,Missense_T437M exm2231161 1 150970216 [A/G] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Nonsense_R453X,Nonsense_R310X,Nonsense_R263X,Nonsense_R263X,Nonsense_R405X var_1_150970553 1 150970553 [T/C] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A Silent,Silent,Silent,Silent,Silent exm95563 1 150970577 [T/G] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Missense_T433K,Missense_T290K,Missense_T243K,Missense_T243K,Missense_T385K exm95569 1 150970680 [A/G] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Missense_H399Y,Missense_H256Y,Missense_H209Y,Missense_H209Y,Missense_H351Y exm95572 1 150971879 [T/C] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Missense_R364Q,Missense_R221Q,Missense_R174Q,Missense_R174Q,Missense_R316Q exm95573 1 150971880 [A/G] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Nonsense_R364X,Nonsense_R221X,Nonsense_R174X,Nonsense_R174X,Nonsense_R316X exm95579 1 150971949 [A/G] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Nonsense_Q341X,Nonsense_Q198X,Nonsense_Q151X,Nonsense_Q151X,Nonsense_Q293X exm95589 1 150973013 [T/C] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Missense_D267N,Missense_D124N,Missense_D77N,Missense_D77N,Missense_D219N exm95596 1 150974202 [A/G] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Synonymous_L218L,Synonymous_L75L,Synonymous_L28L,Synonymous_L28L,Synonymous_L170L variant.6441 1 150974640 [T/C] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A Silent,Silent,Silent,Silent,Silent exm95602 1 150974740 [T/C] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Nonsense_W166X,Nonsense_W23X,Silent,Silent,Nonsense_W118X exm95607 1 150974828 [T/C] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Missense_E137G,Silent,Silent,Silent,Missense_E89G exm95608 1 150974861 [A/G] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Missense_P126L,Silent,Silent,Silent,Missense_P78L exm95615 1 150974971 [T/A] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Missense_R89S,Silent,Silent,Silent,Missense_R41S exm95619 1 150975108 [T/C] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Missense_K44E,Silent,Silent,Silent,Silent var_1_150975123 1 150975123 [A/G] NM_001163258,NM_001163259,NM_001163260,NM_001040217,NM_018379 FAM63A,FAM63A,FAM63A,FAM63A,FAM63A EXON Nonsense_Q39X,Silent,Silent,Silent,Silent 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 indel.6445 1 150990369 [I/D] NM_021222 PRUNE EXON rs3738480 1 150990825 [A/G] NM_021222 PRUNE Silent newrs137929776 1 150991006 [T/C] NM_021222 PRUNE EXON Nonsense_R66X 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 rs3820539 1 150997723 [A/G] NM_021222 PRUNE Silent rs3738478 1 150997940 [T/C] NM_021222 PRUNE Silent exm95649 1 150998110 [A/G] NM_021222 PRUNE EXON Missense_I214V variant.6447 1 150999741 [T/C] NM_021222 PRUNE EXON Nonsense_Q238X 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 rs7540258 1 151008852 [A/G] exm95682 1 151009208 [A/G] NM_138278,NM_001159642 BNIPL,BNIPL EXON Missense_T3A,Silent indel.6448 1 151009230 [D/I] NM_138278,NM_001159642 BNIPL,BNIPL EXON indel.6449 1 151009233 [I/D] NM_138278,NM_001159642 BNIPL,BNIPL EXON indel.6450 1 151009243 [I/D] NM_138278,NM_001159642 BNIPL,BNIPL 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 variant.6454 1 151016202 [T/C] NM_138278,NM_001159642 BNIPL,BNIPL EXON Missense_R284W,Missense_R202W variant.6455 1 151016203 [A/G] NM_138278,NM_001159642 BNIPL,BNIPL EXON Missense_R284Q,Missense_R202Q variant.6457 1 151018541 [A/G] NM_138278,NM_001159642 BNIPL,BNIPL Silent,Silent 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 rs6587552 1 151018861 [A/G] NM_138278,NM_001159642 BNIPL,BNIPL Silent,Silent 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 variant.6460 1 151021291 [A/G] NM_017860 C1orf56 EXON Nonsense_W323X indel.6461 1 151021299 [D/I] NM_017860 C1orf56 EXON variant.6462 1 151021329 [T/G] NM_017860 C1orf56 Silent rs6664387 1 151021509 [A/G] NM_017860 C1orf56 Silent var_1_151022960 1 151022961 [D/I] NM_017860 C1orf56 EXON variant.6464 1 151022965 [A/G] NM_017860 C1orf56 EXON Silent variant.6465 1 151027490 [A/G] NM_020239,NM_001038707 CDC42SE1,CDC42SE1 Silent,Silent 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 variant.6467 1 151065740 [T/C] NM_144618 GABPB2 EXON Nonsense_R117X exm95833 1 151076050 [T/C] NM_144618 GABPB2 EXON Missense_A212V exm95835 1 151076116 [A/C] NM_144618 GABPB2 EXON Missense_A234E rs6676190 1 151079317 [T/C] NM_144618 GABPB2 Silent indel.6468 1 151079524 [I/D] NM_144618 GABPB2 EXON 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 rs4970998 1 151091181 [A/G] exm95874 1 151105169 [T/C] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Missense_A854T,Missense_A862T,Missense_A894T exm95881 1 151105547 [A/G] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Missense_R728W,Missense_R736W,Missense_R768W exm95898 1 151105831 [T/C] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Missense_E633G,Missense_E641G,Missense_E673G exm95910 1 151107140 [T/G] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Missense_D517A,Missense_D557A,Missense_D557A exm95916 1 151107277 [T/C] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Missense_G512D,Missense_G552D,Missense_G552D exm95917 1 151107304 [G/C] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Missense_R503T,Missense_R543T,Missense_R543T exm95933 1 151108137 [T/G] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Missense_T415P,Missense_T455P,Missense_T455P exm95945 1 151108622 [T/C] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Missense_G335E,Missense_G375E,Missense_G375E exm95948 1 151108993 [T/G] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Missense_K306T,Missense_K346T,Missense_K346T exm95958 1 151109517 [A/G] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Missense_R224C,Missense_R264C,Missense_R264C exm95962 1 151110221 [T/C] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Missense_R201H,Missense_R241H,Missense_R241H variant.6478 1 151110261 [A/G] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Nonsense_Q188X,Nonsense_Q228X,Nonsense_Q228X exm95969 1 151110500 [C/G] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Silent,Missense_P210R,Missense_P210R exm95971 1 151110510 [A/G] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Silent,Missense_P207S,Missense_P207S exm95980 1 151111901 [T/C] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Synonymous_T118T,Synonymous_T118T,Synonymous_T118T exm95991 1 151112158 [T/C] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Missense_D85N,Missense_D85N,Missense_D85N exm95995 1 151112483 [T/C] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Missense_T68A,Missense_T68A,Missense_T68A exm95998 1 151115007 [A/G] NM_001178062,NM_030913,NM_001178061 SEMA6C,SEMA6C,SEMA6C EXON Missense_L31F,Missense_L31F,Missense_L31F exm2259804 1 151122489 [T/C] rs2067606 1 151129254 [A/G] NM_024575,NM_001204848 TNFAIP8L2,TNFAIP8L2-SCNM1 Silent,Silent 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_212551,NM_001136543 TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Missense_Q198K,Missense_Q150K exm96046 1 151134293 [C/G] NM_001204848,NM_212551,NM_001136543 TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Missense_S155C,Missense_S107C exm96047 1 151134320 [A/G] NM_001204848,NM_212551,NM_001136543 TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Missense_P146L,Missense_P98L exm96050 1 151134362 [T/C] NM_001204848,NM_212551,NM_001136543 TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Missense_R132H,Missense_R84H exm96061 1 151137632 [C/G] NM_001204848,NM_212551,NM_001136543 TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Missense_V35L,Silent exm96062 1 151137646 [T/G] NM_001204848,NM_212551,NM_001136543 TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Nonsense_S30X,Silent exm96069 1 151138250 [T/G] NM_001204848,NM_212551,NM_001136543 TNFAIP8L2-SCNM1,LYSMD1,LYSMD1 EXON Silent,Silent,Missense_S3R variant.6485 1 151138658 [A/G] NM_001204848,NM_024041,NM_001204856,NR_037937 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Silent,Nonsense_W10X,Silent,Silent exm96077 1 151138669 [A/G] NM_001204848,NM_024041,NM_001204856,NR_037937 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Silent,Missense_N14S,Silent,Silent exm1713883 1 151139001 [T/A] NM_001204848,NM_024041,NM_001204856,NR_037937 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_M1L,Missense_M36L,Missense_M1L,Silent exm96086 1 151139597 [G/C] NM_001204848,NM_024041,NM_001204856,NR_037937 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_S36T,Missense_S71T,Missense_S36T,Silent exm96094 1 151139877 [T/C] NM_001204848,NM_024041,NM_001204856,NR_037937 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_R94C,Missense_R129C,Missense_R94C,Silent exm96102 1 151140676 [A/G] NM_001204848,NM_024041,NM_001204856,NR_037937 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_K117R,Missense_K152R,Missense_K117R,Silent exm96106 1 151140732 [A/G] NM_001204848,NM_024041,NM_001204856,NR_037937 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_E136K,Missense_E171K,Missense_E136K,Silent exm96107 1 151140742 [T/C] NM_001204848,NM_024041,NM_001204856,NR_037937 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_A139V,Missense_A174V,Missense_A139V,Silent variant.6491 1 151140783 [T/C] NM_001204848,NM_024041,NM_001204856,NR_037937 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Nonsense_R153X,Nonsense_R188X,Nonsense_R153X,Silent exm96111 1 151141485 [G/C] NM_001204848,NM_024041,NM_001204856,NR_037937 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_R171P,Missense_R206P,Missense_R171P,Silent exm96112 1 151141495 [G/C] NM_001204848,NM_024041,NM_001204856,NR_037937 TNFAIP8L2-SCNM1,SCNM1,SCNM1,SCNM1 EXON Missense_W174C,Missense_W209C,Missense_W174C,Silent 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 variant.6495 1 151144156 [A/G] NM_013353 TMOD4 EXON Nonsense_R191X 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 variant.6499 1 151147025 [T/C] NM_013353 TMOD4 Silent exm96182 1 151149265 [T/C] NM_001271087,NM_005997,NM_001271088 VPS72,VPS72,VPS72 EXON Missense_K328R,Missense_K317R,Silent exm96188 1 151149392 [T/C] NM_001271087,NM_005997,NM_001271088 VPS72,VPS72,VPS72 EXON Missense_E286K,Missense_E275K,Silent exm96192 1 151149452 [T/C] NM_001271087,NM_005997,NM_001271088 VPS72,VPS72,VPS72 EXON Missense_V266I,Missense_V255I,Silent exm96195 1 151149487 [A/G] NM_001271087,NM_005997,NM_001271088 VPS72,VPS72,VPS72 EXON Missense_V254A,Missense_V243A,Silent exm96197 1 151149490 [A/G] NM_001271087,NM_005997,NM_001271088 VPS72,VPS72,VPS72 EXON Missense_S253L,Missense_S242L,Silent exm96213 1 151158036 [T/C] NM_001271087,NM_005997,NM_001271088 VPS72,VPS72,VPS72 EXON Missense_A111T,Missense_A111T,Missense_A111T rs4971013 1 151173113 [A/G] NM_003557,NM_001135636,NM_001135638,NM_001135637 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A Silent,Silent,Silent,Silent rs1892196 1 151193897 [A/G] NM_003557,NM_001135636,NM_001135638,NM_001135637 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A Silent,Silent,Silent,Silent variant.6505 1 151196719 [A/G] NM_003557,NM_001135636,NM_001135638,NM_001135637 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A Silent,Silent,Silent,Silent variant.6506 1 151196755 [A/G] NM_003557,NM_001135636,NM_001135638,NM_001135637 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A EXON Synonymous_E39E,Synonymous_E40E,Synonymous_E40E,Synonymous_E39E variant.6507 1 151196845 [A/G] NM_003557,NM_001135636,NM_001135638,NM_001135637 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A Silent,Silent,Silent,Silent exm96238 1 151196856 [T/G] NM_003557,NM_001135636,NM_001135638,NM_001135637 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A EXON Silent,Silent,Missense_A44S,Silent rs7527032 1 151203313 [T/C] NM_003557,NM_001135636,NM_001135638,NM_001135637 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A Silent,Silent,Silent,Silent variant.6508 1 151204282 [A/C] NM_003557,NM_001135636,NM_001135638,NM_001135637 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A Silent,Silent,Silent,Silent exm1713956 1 151214944 [T/C] NM_003557,NM_001135636,NM_001135638,NM_001135637 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A EXON Missense_P501L,Missense_P474L,Missense_P514L,Missense_P452L variant.6511 1 151220367 [T/C] NM_003557,NM_001135636,NM_001135638,NM_001135637 PIP5K1A,PIP5K1A,PIP5K1A,PIP5K1A EXON Silent,Silent,Silent,Silent exm2249926 1 151230929 [T/G] NM_002810 PSMD4 Silent rs4636463 1 151233080 [T/C] 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_001198774,NM_001198773,NM_002651,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Synonymous_L757L,Synonymous_L757L,Synonymous_L784L,Synonymous_L440L exm2249929 1 151265463 [C/G] NM_001198774,NM_001198773,NM_002651,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Synonymous_L757L,Synonymous_L757L,Synonymous_L784L,Synonymous_L440L exm96548 1 151271498 [G/C] NM_001198774,NM_001198773,NM_002651,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_L586V,Missense_L586V,Missense_L613V,Missense_L269V rs10888409 1 151271782 [A/C] NM_001198774,NM_001198773,NM_002651,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB Silent,Silent,Silent,Silent variant.6517 1 151282687 [A/G] NM_001198774,NM_001198773,NM_002651,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Silent,Silent,Synonymous_S330S,Silent exm96573 1 151288095 [T/C] NM_001198774,NM_001198773,NM_002651,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_N288S,Missense_N288S,Missense_N300S,Silent rs1056847 1 151288172 [A/G] NM_001198774,NM_001198773,NM_002651,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Synonymous_D262D,Synonymous_D262D,Synonymous_D274D,Silent exm96593 1 151288698 [A/C] NM_001198774,NM_001198773,NM_002651,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_I87S,Missense_I87S,Missense_I99S,Silent exm96603 1 151288780 [T/G] NM_001198774,NM_001198773,NM_002651,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_K60Q,Missense_K60Q,Missense_K72Q,Silent exm96605 1 151288857 [A/G] NM_001198774,NM_001198773,NM_002651,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_T34M,Missense_T34M,Missense_T46M,Silent exm96607 1 151288896 [C/G] NM_001198774,NM_001198773,NM_002651,NM_001198775 PI4KB,PI4KB,PI4KB,PI4KB EXON Missense_P21R,Missense_P21R,Missense_P33R,Silent indel.6518 1 151314666 [D/I] NM_000449,NM_001025603 RFX5,RFX5 EXON 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 newrs79106593 1 151315105 [A/G] NM_000449,NM_001025603 RFX5,RFX5 EXON Nonsense_R470X,Nonsense_R470X 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 variant.6521 1 151316672 [T/C] NM_000449,NM_001025603 RFX5,RFX5 Silent,Silent variant.6522 1 151317324 [T/C] NM_000449,NM_001025603 RFX5,RFX5 Silent,Silent variant.6523 1 151318686 [T/G] NM_000449,NM_001025603 RFX5,RFX5 EXON Synonymous_T37T,Synonymous_T37T 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 rs2769273 1 151327376 [T/C] exm96701 1 151337060 [A/G] NM_001258289,NM_001258288,NM_003944 SELENBP1,SELENBP1,SELENBP1 EXON Missense_R502C,Missense_R398C,Missense_R460C exm96711 1 151337690 [G/C] NM_001258289,NM_001258288,NM_003944 SELENBP1,SELENBP1,SELENBP1 EXON Missense_S413C,Missense_S309C,Missense_S371C exm96713 1 151337703 [T/C] NM_001258289,NM_001258288,NM_003944 SELENBP1,SELENBP1,SELENBP1 EXON Missense_E409K,Missense_E305K,Missense_E367K exm1714092 1 151338149 [T/C] NM_001258289,NM_001258288,NM_003944 SELENBP1,SELENBP1,SELENBP1 EXON Missense_D354N,Missense_D250N,Missense_D312N newrs143408960 1 151338243 [T/C] NM_001258289,NM_001258288,NM_003944 SELENBP1,SELENBP1,SELENBP1 Silent,Silent,Silent exm96724 1 151338753 [T/C] NM_001258289,NM_001258288,NM_003944 SELENBP1,SELENBP1,SELENBP1 EXON Missense_E323K,Missense_E219K,Missense_E281K exm96734 1 151339230 [T/C] NM_001258289,NM_001258288,NM_003944 SELENBP1,SELENBP1,SELENBP1 EXON Missense_R253Q,Missense_R149Q,Missense_R211Q exm96735 1 151339231 [A/G] NM_001258289,NM_001258288,NM_003944 SELENBP1,SELENBP1,SELENBP1 EXON Nonsense_R253X,Nonsense_R149X,Nonsense_R211X exm96737 1 151339278 [T/C] NM_001258289,NM_001258288,NM_003944 SELENBP1,SELENBP1,SELENBP1 EXON Missense_R237Q,Missense_R133Q,Missense_R195Q exm2249931 1 151339307 [T/C] NM_001258289,NM_001258288,NM_003944 SELENBP1,SELENBP1,SELENBP1 EXON Synonymous_P227P,Synonymous_P123P,Synonymous_P185P exm96740 1 151339348 [T/C] NM_001258289,NM_001258288,NM_003944 SELENBP1,SELENBP1,SELENBP1 EXON Missense_E214K,Missense_E110K,Missense_E172K variant.6529 1 151340675 [T/C] NM_001258289,NM_001258288,NM_003944 SELENBP1,SELENBP1,SELENBP1 EXON Missense_G203R,Missense_G99R,Missense_G161R exm96745 1 151340680 [C/G] NM_001258289,NM_001258288,NM_003944 SELENBP1,SELENBP1,SELENBP1 EXON Missense_G201A,Missense_G97A,Missense_G159A exm96751 1 151340762 [T/C] NM_001258289,NM_001258288,NM_003944 SELENBP1,SELENBP1,SELENBP1 EXON Missense_E174K,Missense_E70K,Missense_E132K exm96754 1 151341499 [T/C] NM_001258289,NM_001258288,NM_003944 SELENBP1,SELENBP1,SELENBP1 EXON Missense_R156Q,Silent,Missense_R114Q rs2769265 1 151344150 [A/C] NM_001258289,NM_001258288,NM_003944 SELENBP1,SELENBP1,SELENBP1 Silent,Silent,Silent rs12741361 1 151346333 [A/G] rs2296840 1 151372047 [T/C] NM_002796 PSMB4 EXON Silent 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_001194938,NM_015100,NM_001194937,NM_145796,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_H1301Q,Missense_H1363Q,Missense_H1354Q,Missense_H1268Q,Missense_H1310Q exm96851 1 151377648 [A/G] NM_001194938,NM_015100,NM_001194937,NM_145796,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_A1226V,Missense_A1288V,Missense_A1279V,Missense_A1193V,Missense_A1235V exm96859 1 151377952 [A/G] NM_001194938,NM_015100,NM_001194937,NM_145796,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_P1125S,Missense_P1187S,Missense_P1178S,Missense_P1092S,Missense_P1134S exm96887 1 151378842 [A/G] NM_001194938,NM_015100,NM_001194937,NM_145796,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_A828V,Missense_A890V,Missense_A881V,Missense_A795V,Missense_A837V exm96891 1 151379094 [T/C] NM_001194938,NM_015100,NM_001194937,NM_145796,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_I791M,Missense_I853M,Missense_I844M,Missense_I758M,Missense_I800M rs6587572 1 151386465 [A/C] NM_001194938,NM_015100,NM_001194937,NM_145796,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ Silent,Silent,Silent,Silent,Silent exm96927 1 151396443 [T/C] NM_001194938,NM_015100,NM_001194937,NM_145796,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_R440K,Missense_R502K,Missense_R493K,Missense_R407K,Missense_R449K exm96935 1 151397526 [T/C] NM_001194938,NM_015100,NM_001194937,NM_145796,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_I302V,Missense_I364V,Missense_I355V,Missense_I269V,Missense_I311V variant.6534 1 151400298 [T/C] NM_001194938,NM_015100,NM_001194937,NM_145796,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ Silent,Silent,Silent,Silent,Silent exm96940 1 151400349 [T/C] NM_001194938,NM_015100,NM_001194937,NM_145796,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_S281N,Missense_S343N,Missense_S334N,Missense_S248N,Missense_S290N exm96945 1 151400506 [A/G] NM_001194938,NM_015100,NM_001194937,NM_145796,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Silent,Missense_P291S,Silent,Missense_P196S,Missense_P238S exm96965 1 151403194 [T/C] NM_001194938,NM_015100,NM_001194937,NM_145796,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_N83S,Missense_N136S,Missense_N136S,Silent,Missense_N83S rs11578888 1 151407693 [A/G] NM_001194938,NM_015100,NM_001194937,NM_145796,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ Silent,Silent,Silent,Silent,Silent exm96976 1 151414577 [A/G] NM_001194938,NM_015100,NM_001194937,NM_145796,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_S35L,Missense_S35L,Missense_S35L,Missense_S35L,Missense_S35L exm96977 1 151414611 [T/C] NM_001194938,NM_015100,NM_001194937,NM_145796,NM_207171 POGZ,POGZ,POGZ,POGZ,POGZ EXON Missense_V24I,Missense_V24I,Missense_V24I,Missense_V24I,Missense_V24I rs11204828 1 151458193 [T/C] rs2878950 1 151464911 [T/C] exm2259806 1 151468060 [T/G] exm-rs1547832 1 151477193 [T/C] rs7552458 1 151488782 [T/G] NM_020770 CGN Silent 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 indel.6536 1 151491695 [I/D] NM_020770 CGN EXON 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 variant.6540 1 151496745 [T/C] NM_020770 CGN EXON Nonsense_R438X indel.6541 1 151496831 [D/I] NM_020770 CGN EXON 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 newrs140334393 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 rs6673116 1 151504778 [T/C] NM_020770 CGN Silent variant.6548 1 151504876 [A/G] NM_020770 CGN Silent 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 newrs142499650 1 151508741 [T/C] NM_020770 CGN EXON Nonsense_R1076X 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_001126337,NM_020127 TUFT1,TUFT1 EXON Missense_V13L,Missense_V13L exm97215 1 151512895 [A/G] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Missense_Q18R,Missense_Q18R rs2337360 1 151514603 [A/G] NM_001126337,NM_020127 TUFT1,TUFT1 Silent,Silent rs17640598 1 151524275 [A/G] NM_001126337,NM_020127 TUFT1,TUFT1 Silent,Silent exm97220 1 151534573 [A/G] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Silent,Missense_V23M exm97222 1 151534633 [C/G] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Silent,Missense_A43P exm97224 1 151535062 [T/C] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Missense_A21V,Missense_A46V exm1714317 1 151535130 [A/G] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Missense_E44K,Missense_E69K exm97228 1 151537025 [T/C] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Missense_R92W,Missense_R117W exm97236 1 151538661 [A/G] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Missense_G121D,Missense_G146D exm97240 1 151542140 [T/C] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Missense_T138I,Missense_T163I exm97243 1 151542170 [C/G] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Missense_R148T,Missense_R173T exm97244 1 151542176 [T/C] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Missense_T150M,Missense_T175M exm97245 1 151542198 [T/G] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Missense_K157N,Missense_K182N exm97247 1 151542215 [A/G] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Missense_R163Q,Missense_R188Q variant.6557 1 151546779 [T/C] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Nonsense_Q185X,Nonsense_Q210X exm97253 1 151546816 [T/C] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Missense_V197A,Missense_V222A exm97254 1 151546855 [A/G] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Missense_R210H,Missense_R235H exm97260 1 151551265 [A/G] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Missense_K271R,Missense_K296R exm1714336 1 151552139 [A/C] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Missense_K288N,Missense_K313N variant.6559 1 151553487 [T/C] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Nonsense_Q335X,Nonsense_Q360X exm97268 1 151554137 [T/C] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Missense_P351L,Missense_P376L exm97271 1 151554166 [T/C] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Nonsense_R361X,Nonsense_R386X rs1891592 1 151554503 [T/C] NM_001126337,NM_020127 TUFT1,TUFT1 EXON Silent,Silent rs1970568 1 151575756 [A/G] rs1196360 1 151579662 [A/C] rs1196350 1 151599267 [T/G] NM_030918 SNX27 Silent rs1196351 1 151600441 [A/G] NM_030918 SNX27 Silent rs6702842 1 151608096 [A/G] NM_030918 SNX27 Silent rs6690942 1 151629958 [A/G] NM_030918 SNX27 Silent 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 rs1308137 1 151668295 [A/C] NM_030918 SNX27 EXON Silent exm2249934 1 151669442 [T/C] NM_030918 SNX27 EXON Silent rs1048694 1 151669997 [A/C] NM_030918 SNX27 EXON Silent exm97349 1 151679660 [A/G] NM_001172648,NM_007185,NM_001172649 CELF3,CELF3,CELF3 EXON Missense_P248S,Missense_P295S,Silent exm97352 1 151679708 [T/C] NM_001172648,NM_007185,NM_001172649 CELF3,CELF3,CELF3 EXON Missense_V232I,Missense_V279I,Silent exm97365 1 151681524 [T/C] NM_001172648,NM_007185,NM_001172649 CELF3,CELF3,CELF3 EXON Missense_A99T,Missense_A146T,Missense_A146T exm97367 1 151681552 [A/G] NM_001172648,NM_007185,NM_001172649 CELF3,CELF3,CELF3 EXON Synonymous_G89G,Synonymous_G136G,Synonymous_G136G exm97386 1 151694626 [A/G] NM_001144956 RIIAD1 EXON Missense_S50N rs2298294 1 151701345 [A/G] NM_001144956 RIIAD1 EXON Silent rs2096402 1 151705137 [A/G] rs1781417 1 151707765 [A/G] rs11204880 1 151728756 [T/C] exm97397 1 151732552 [T/C] NM_031420 MRPL9 EXON Missense_M260V variant.6566 1 151733292 [T/C] NM_031420 MRPL9 EXON Synonymous_T224T 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 indel.6567 1 151734623 [I/D] NM_031420 MRPL9 EXON variant.6568 1 151734911 [A/G] NM_031420 MRPL9 EXON Nonsense_Q126X 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 indel.6571 1 151739222 [I/D] NM_001134939,NM_016178 OAZ3,OAZ3 EXON 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 variant.6578 1 151740657 [T/C] NM_001134939,NM_016178 OAZ3,OAZ3 EXON Missense_S98L,Missense_S143L exm97458 1 151740666 [T/C] NM_001134939,NM_016178 OAZ3,OAZ3 EXON Missense_L101P,Missense_L146P indel.6579 1 151742679 [I/D] NM_001134939,NM_016178 OAZ3,OAZ3 EXON indel.6580 1 151742698 [I/D] NM_001134939,NM_016178 OAZ3,OAZ3 EXON indel.6581 1 151742724 [I/D] NM_001134939,NM_016178 OAZ3,OAZ3 EXON exm1714417 1 151742726 [A/C] NM_001134939,NM_016178 OAZ3,OAZ3 EXON Synonymous_R142R,Synonymous_R187R rs2495396 1 151744928 [T/C] NM_006862 TDRKH Silent exm97475 1 151747558 [T/C] NM_006862,NM_001083965,NM_001083963,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_D507N,Missense_D507N,Missense_D507N,Missense_D462N rs11204885 1 151747970 [A/G] NM_006862,NM_001083965,NM_001083963,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Synonymous_H444H,Synonymous_H444H,Synonymous_H444H,Synonymous_H399H exm97482 1 151748021 [A/T] NM_006862,NM_001083965,NM_001083963,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH Silent,Silent,Silent,Silent exm97485 1 151748578 [A/G] NM_006862,NM_001083965,NM_001083963,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_A404V,Missense_A404V,Missense_A404V,Missense_A359V exm97486 1 151748579 [A/C] NM_006862,NM_001083965,NM_001083963,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_A404S,Missense_A404S,Missense_A404S,Missense_A359S exm97487 1 151748660 [T/C] NM_006862,NM_001083965,NM_001083963,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_G377S,Missense_G377S,Missense_G377S,Missense_G332S exm97489 1 151748669 [A/G] NM_006862,NM_001083965,NM_001083963,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_R374W,Missense_R374W,Missense_R374W,Missense_R329W exm97490 1 151748733 [G/C] NM_006862,NM_001083965,NM_001083963,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_L352F,Missense_L352F,Missense_L352F,Missense_L307F exm97491 1 151748920 [T/G] NM_006862,NM_001083965,NM_001083963,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_S347R,Missense_S347R,Missense_S347R,Missense_S302R exm97493 1 151748992 [T/C] NM_006862,NM_001083965,NM_001083963,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_I323V,Missense_I323V,Missense_I323V,Missense_I278V exm97499 1 151751266 [T/C] NM_006862,NM_001083965,NM_001083963,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_D260N,Missense_D260N,Missense_D260N,Missense_D215N exm97504 1 151751403 [T/C] NM_006862,NM_001083965,NM_001083963,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_R214H,Missense_R214H,Missense_R214H,Missense_R169H exm97507 1 151751707 [T/C] NM_006862,NM_001083965,NM_001083963,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_E145K,Missense_E145K,Missense_E145K,Silent exm1714442 1 151755395 [T/C] NM_006862,NM_001083965,NM_001083963,NM_001083964 TDRKH,TDRKH,TDRKH,TDRKH EXON Missense_R35H,Missense_R35H,Missense_R35H,Missense_R35H rs4845579 1 151770138 [T/C] rs12409493 1 151773167 [A/G] NM_001004432 LINGO4 EXON Silent 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 newrs149393439 1 151774172 [A/G] NM_001004432 LINGO4 EXON Nonsense_Q337X 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 rs939595 1 151783688 [A/C] NM_001001523,NM_005060 RORC,RORC Silent,Silent 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 variant.6596 1 151785423 [A/G] NM_001001523,NM_005060 RORC,RORC EXON Missense_H408Y,Missense_H429Y 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 rs7540530 1 151790858 [A/G] NM_001001523,NM_005060 RORC,RORC Silent,Silent rs949969 1 151792814 [A/G] NM_001001523,NM_005060 RORC,RORC Silent,Silent rs4845606 1 151801951 [A/G] NM_005060 RORC Silent exm97673 1 151804213 [A/G] NM_005060 RORC EXON Nonsense_R10X rs6587622 1 151814405 [A/G] NR_024237 LOC100132111 EXON Silent rs7536659 1 151816718 [T/C] variant.6601 1 151820244 [T/C] NM_182578 THEM5 EXON Missense_D224N 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 rs6587625 1 151820324 [T/C] NM_182578 THEM5 EXON Missense_D197G exm97694 1 151820731 [T/C] NM_182578 THEM5 EXON Missense_E168K rs2279503 1 151824089 [T/C] NM_182578 THEM5 Silent exm97700 1 151824781 [T/C] NM_182578 THEM5 EXON Missense_D93G variant.6606 1 151824874 [T/C] NM_182578 THEM5 EXON Nonsense_W62X exm97705 1 151824895 [T/G] NM_182578 THEM5 EXON Missense_Y55S exm97708 1 151825920 [A/G] NM_182578 THEM5 EXON Missense_M41T rs6684312 1 151844650 [A/G] NM_053055 THEM4 EXON Silent rs6587627 1 151846059 [T/C] NM_053055 THEM4 EXON Silent exm97720 1 151849599 [A/G] NM_053055 THEM4 EXON Missense_P187L rs6685187 1 151858888 [A/G] NM_053055 THEM4 Silent exm97733 1 151861842 [G/C] NM_053055 THEM4 EXON Missense_K98N var_1_151861851 1 151861851 [T/C] NM_053055 THEM4 Silent 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 rs11204915 1 151882826 [T/C] rs4845713 1 151894887 [A/G] rs10788819 1 151895093 [T/C] exm-rs10788819 1 151895093 [T/C] rs6703448 1 151909453 [A/C] rs9943251 1 151917115 [A/G] rs2999508 1 151934447 [A/C] rs7541099 1 151938763 [T/C] exm97756 1 151955753 [G/C] NM_002966 S100A10 EXON Missense_D60E newrs113230904 1 151955801 [T/C] NM_002966 S100A10 Silent variant.6612 1 151958595 [A/C] NM_002966 S100A10 EXON Nonsense_E38X exm97766 1 151958654 [T/C] NM_002966 S100A10 EXON Missense_K18R rs2999534 1 151976070 [T/C] rs6587641 1 151978039 [A/G] rs12134184 1 152004435 [T/C] 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 rs6680866 1 152022989 [A/G] rs4333848 1 152028561 [A/C] exm-rs3124314 1 152037515 [T/C] exm97798 1 152057472 [A/G] NM_001008536 TCHHL1 EXON Nonsense_Q896X indel.6616 1 152057670 [I/D] NM_001008536 TCHHL1 EXON 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 indel.6619 1 152058844 [I/D] NM_001008536 TCHHL1 EXON indel.6620 1 152058849 [D/I] NM_001008536 TCHHL1 EXON indel.6621 1 152058992 [D/I] NM_001008536 TCHHL1 EXON 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 indel.6623 1 152059458 [D/I] NM_001008536 TCHHL1 EXON exm97869 1 152059461 [T/G] NM_001008536 TCHHL1 EXON Missense_Q233K indel.6624 1 152059508 [I/D] NM_001008536 TCHHL1 EXON 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 rs17646946 1 152062767 [A/G] exm-rs17646946 1 152062767 [A/G] exm97908 1 152079989 [T/G] NM_007113 TCHH EXON Missense_K1902Q rs1131471 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 var_1_152081684 1 152081685 [D/I] NM_007113 TCHH EXON exm98036 1 152081701 [C/G] NM_007113 TCHH EXON Missense_R1331P indel.6631 1 152081706 [I/D] NM_007113 TCHH EXON 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 1KG_1_152085296 1 152085296 [I/D] NM_007113 TCHH EXON exm98286 1 152085307 [A/G] NM_007113 TCHH EXON Missense_L129P indel.6647 1 152085458 [I/D] NM_007113 TCHH EXON exm98293 1 152085505 [A/C] NM_007113 TCHH EXON Missense_L63R variant.6648 1 152086418 [T/C] NM_007113 TCHH Silent exm98295 1 152086420 [T/C] NM_007113 TCHH EXON Missense_R46Q variant.6650 1 152127306 [A/G] NM_001122965 RPTN EXON Nonsense_R757X exm98310 1 152127348 [A/G] NM_001122965 RPTN EXON Nonsense_R743X exm98318 1 152127455 [T/C] NM_001122965 RPTN EXON Missense_E707G variant.6652 1 152127573 [A/G] NM_001122965 RPTN EXON Nonsense_Q668X exm98321 1 152127663 [A/G] NM_001122965 RPTN EXON Missense_S638P var_1_152127741 1 152127741 [A/G] NM_001122965 RPTN EXON Nonsense_Q612X var_1_152127748 1 152127748 [A/C] NM_001122965 RPTN EXON Nonsense_Y609X 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 variant.6657 1 152128416 [A/G] NM_001122965 RPTN EXON Nonsense_Q387X 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 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] rs969359 1 152144260 [T/C] rs16833876 1 152152329 [T/G] rs12130219 1 152162106 [A/G] rs1552991 1 152165878 [T/C] rs4845741 1 152183474 [A/G] rs4845423 1 152184950 [T/G] NM_001009931 HRNR EXON Silent variant.6659 1 152185575 [A/G] NM_001009931 HRNR EXON Nonsense_Q2844X 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 newrs115929005 1 152192589 [A/G] NM_001009931 HRNR EXON Nonsense_R506X 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 indel.6676 1 152193681 [I/D] NM_001009931 HRNR EXON 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 indel.6677 1 152193914 [I/D] NM_001009931 HRNR EXON rs10888470 1 152200472 [T/C] rs2036101 1 152217443 [T/C] rs11204947 1 152218257 [T/G] rs12030667 1 152219679 [A/G] rs12746239 1 152246726 [A/G] rs4641313 1 152255225 [A/G] rs2152862 1 152259742 [T/C] 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 variant.6682 1 152275441 [T/C] NM_002016 FLG EXON Nonsense_W3974X exm99248 1 152275453 [A/G] NM_002016 FLG EXON Missense_S3970L indel.6683 1 152275461 [I/D] NM_002016 FLG EXON indel.6684 1 152275510 [D/I] NM_002016 FLG EXON 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 var_1_152275721 1 152275721 [A/C] NM_002016 FLG EXON Nonsense_E3881X 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 rs12405278 1 152282267 [A/G] NM_002016 FLG EXON Missense_R1699C 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 newrs143805317 1 152283049 [T/G] NM_002016 FLG EXON Nonsense_S1438X 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 indel.6719 1 152283689 [D/I] NM_002016 FLG EXON 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 indel.6727 1 152284983 [I/D] NM_002016 FLG EXON 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 variant.6732 1 152285762 [A/G] NM_002016 FLG EXON Nonsense_Q534X 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 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 variant.6737 1 152286515 [T/G] NM_002016 FLG EXON Missense_P283T 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 indel.6740 1 152286921 [I/D] NM_002016 FLG EXON exm100558 1 152286967 [T/C] NM_002016 FLG EXON Missense_N132S exm100564 1 152287078 [A/G] NM_002016 FLG EXON Missense_P95L indel.6742 1 152287164 [D/I] NM_002016 FLG EXON 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 rs3134871 1 152299233 [A/G] exm-rs3126085 1 152300817 [A/G] exm-rs3120665 1 152316590 [A/G] rs3120669 1 152319915 [T/G] rs2065954 1 152321344 [T/G] NM_001014342 FLG2 EXON Silent rs11204982 1 152322042 [T/C] NM_001014342 FLG2 EXON Silent exm100586 1 152323087 [G/C] NM_001014342 FLG2 EXON Missense_X2392S exm100588 1 152323132 [T/G] NM_001014342 FLG2 EXON Nonsense_S2377X newrs12568784 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 newrs150581091 1 152323551 [A/C] NM_001014342 FLG2 EXON Nonsense_Y2237X 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 variant.6747 1 152323814 [A/G] NM_001014342 FLG2 EXON Nonsense_Q2150X exm100621 1 152323822 [A/G] NM_001014342 FLG2 EXON Missense_I2147T exm100625 1 152323838 [T/C] NM_001014342 FLG2 EXON Missense_G2142R variant.6749 1 152323988 [A/G] NM_001014342 FLG2 EXON Nonsense_Q2092X newrs74923882 1 152324000 [A/C] NM_001014342 FLG2 EXON Nonsense_G2088X 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 variant.6752 1 152324330 [A/G] NM_001014342 FLG2 EXON Nonsense_Q1978X exm100663 1 152324333 [T/C] NM_001014342 FLG2 EXON Missense_G1977S exm100667 1 152324374 [A/C] NM_001014342 FLG2 EXON Missense_G1963V exm100669 1 152324432 [T/C] NM_001014342 FLG2 EXON Missense_G1944R indel.6754 1 152324500 [D/I] NM_001014342 FLG2 EXON exm100676 1 152324559 [G/C] NM_001014342 FLG2 EXON Missense_H1901Q exm100678 1 152324599 [A/G] NM_001014342 FLG2 EXON Missense_V1888A exm100684 1 152324654 [A/G] NM_001014342 FLG2 EXON Missense_S1870P exm100687 1 152324681 [A/C] NM_001014342 FLG2 EXON Missense_G1861C indel.6756 1 152324724 [I/D] NM_001014342 FLG2 EXON variant.6757 1 152324798 [A/G] NM_001014342 FLG2 EXON Nonsense_R1822X 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 variant.6758 1 152325449 [A/G] NM_001014342 FLG2 EXON Nonsense_Q1605X exm100718 1 152325455 [T/C] NM_001014342 FLG2 EXON Missense_G1603R variant.6759 1 152325479 [A/G] NM_001014342 FLG2 EXON Nonsense_R1595X exm100726 1 152325546 [C/G] NM_001014342 FLG2 EXON Missense_Q1572H newrs148445702 1 152325692 [A/G] NM_001014342 FLG2 EXON Nonsense_Q1524X indel.6761 1 152325698 [D/I] NM_001014342 FLG2 EXON exm100736 1 152325721 [A/G] NM_001014342 FLG2 EXON Missense_S1514L indel.6762 1 152325796 [D/I] NM_001014342 FLG2 EXON exm100751 1 152325959 [T/C] NM_001014342 FLG2 EXON Missense_G1435R newrs140668061 1 152326160 [A/G] NM_001014342 FLG2 EXON Nonsense_Q1368X 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 variant.6767 1 152327128 [T/G] NM_001014342 FLG2 EXON Nonsense_S1045X 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 indel.6769 1 152327979 [I/D] NM_001014342 FLG2 EXON 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 newrs140523312 1 152329141 [T/G] NM_001014342 FLG2 EXON Nonsense_S374X indel.6772 1 152329247 [I/D] NM_001014342 FLG2 EXON 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 rs7515448 1 152372035 [A/G] rs6678022 1 152377621 [A/G] 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 exm101022 1 152383266 [T/C] NM_016190 CRNN EXON Missense_G98S exm101023 1 152383382 [T/C] NM_016190 CRNN EXON Missense_R59H variant.6785 1 152384572 [T/C] NM_016190 CRNN EXON Synonymous_V46V exm101030 1 152384630 [A/G] NM_016190 CRNN EXON Missense_A27V rs7521839 1 152384759 [A/G] NM_016190 CRNN Silent rs726863 1 152400361 [T/C] rs1923501 1 152411153 [T/C] rs2146118 1 152412196 [A/G] rs6667236 1 152423840 [T/C] rs6694145 1 152424825 [T/G] rs6587673 1 152430152 [A/G] rs4845771 1 152430680 [T/C] rs6696556 1 152430842 [T/G] rs12089980 1 152431931 [T/C] rs1923495 1 152440753 [T/C] exm-rs908922 1 152454591 [A/G] exm2259807 1 152457624 [A/G] rs11205010 1 152457964 [T/C] rs1415432 1 152480654 [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 rs1053590 1 152488428 [T/C] NM_019060 CRCT1 EXON Silent rs4845783 1 152492559 [A/G] exm-rs499697 1 152493154 [A/G] rs12079099 1 152494966 [A/G] rs549044 1 152514332 [T/C] rs7530609 1 152526812 [A/C] rs4240889 1 152534954 [A/C] exm-rs10888501 1 152537954 [A/G] exm-rs4085613 1 152550018 [T/G] exm-rs4112788 1 152551276 [A/G] rs4845313 1 152552461 [A/C] NM_032563 LCE3D Silent exm101134 1 152573271 [A/C] NM_178434 LCE3C EXON Missense_P22T rs6677595 1 152590187 [T/C] exm101160 1 152595405 [A/G] NM_178431 LCE3A EXON Missense_R59C exm1715210 1 152595565 [C/G] NM_178431 LCE3A EXON Missense_Q5H rs4845457 1 152598435 [T/C] rs1325508 1 152612910 [T/C] rs942826 1 152617781 [A/G] rs12096806 1 152643160 [A/G] rs11205066 1 152644161 [T/C] rs11205073 1 152654385 [A/C] rs4845317 1 152670341 [A/G] exm101242 1 152671385 [A/G] NM_178428 LCE2A EXON Missense_C3Y variant.6800 1 152671387 [T/C] NM_178428 LCE2A EXON Nonsense_Q4X exm101268 1 152671679 [T/G] NM_178428 LCE2A EXON Missense_S101I rs16834343 1 152672349 [A/G] rs6693713 1 152675538 [T/C] 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 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 rs6700613 1 152697338 [T/C] rs11205094 1 152708619 [T/G] rs6689049 1 152729136 [T/C] 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 variant.6808 1 152732542 [T/C] NM_001025231 KPRP EXON Nonsense_Q160X 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 rs11205102 1 152747126 [A/G] rs913998 1 152749891 [T/G] rs1888964 1 152750506 [T/C] rs950337 1 152756774 [T/C] 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 rs1411618 1 152815273 [A/G] rs16834611 1 152816340 [A/G] NM_001128600 LCE6A EXON Silent rs6698649 1 152817635 [T/C] rs12565568 1 152823380 [A/C] rs10399703 1 152832473 [T/C] exm2259809 1 152849299 [A/G] rs11205129 1 152856302 [A/G] NM_030663 SMCP Silent indel.6819 1 152856910 [D/I] NM_030663 SMCP EXON 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 indel.6821 1 152857214 [I/D] NM_030663 SMCP EXON rs6587709 1 152862466 [A/G] rs16834740 1 152868945 [A/G] rs16834746 1 152879096 [T/C] 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 newrs149812110 1 152882541 [T/C] NM_005547 IVL EXON Nonsense_Q90X exm2276998 1 152882562 [T/G] NM_005547 IVL EXON Nonsense_E97X exm101636 1 152882610 [A/G] NM_005547 IVL EXON Missense_T113A rs2229496 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 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 rs4845496 1 152888178 [A/G] rs12027303 1 152897923 [T/C] rs756303 1 152908222 [T/C] exm-rs11576457 1 152918556 [T/C] rs2066004 1 152922896 [A/G] rs7546648 1 152931207 [T/C] rs4845501 1 152937401 [A/G] 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 rs16834786 1 152944499 [T/C] NM_173080 SPRR4 EXON Missense_P45S 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 rs1611764 1 152957887 [A/G] NM_005987,NM_001199828 SPRR1A,SPRR1A EXON Missense_V61I,Missense_V61I rs1933383 1 152963468 [T/C] rs6671414 1 152974119 [T/C] exm101807 1 152975555 [A/G] NM_005416,NM_001097589 SPRR3,SPRR3 EXON Missense_Q20R,Missense_Q20R indel.6833 1 152975615 [I/D] NM_005416,NM_001097589 SPRR3,SPRR3 EXON exm101812 1 152975677 [A/G] NM_005416,NM_001097589 SPRR3,SPRR3 EXON Missense_V61I,Missense_V61I exm101822 1 152975798 [T/C] NM_005416,NM_001097589 SPRR3,SPRR3 EXON Missense_V101A,Missense_V101A exm101823 1 152975810 [A/G] NM_005416,NM_001097589 SPRR3,SPRR3 EXON Missense_G105D,Missense_G105D exm101827 1 152975831 [T/C] NM_005416,NM_001097589 SPRR3,SPRR3 EXON Missense_P112L,Missense_P112L exm101829 1 152975845 [T/G] NM_005416,NM_001097589 SPRR3,SPRR3 EXON Missense_V117F,Missense_V117F exm101836 1 152975936 [G/C] NM_005416,NM_001097589 SPRR3,SPRR3 EXON Missense_T147R,Missense_T147R exm101837 1 152975941 [G/C] NM_005416,NM_001097589 SPRR3,SPRR3 EXON Missense_L149V,Missense_L149V exm101839 1 152975963 [T/C] NM_005416,NM_001097589 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 rs407448 1 153007504 [T/C] rs1048296 1 153012240 [A/C] NM_006945 SPRR2D EXON Silent rs310098 1 153037463 [T/C] rs6673356 1 153041903 [A/G] rs310103 1 153042554 [A/C] rs6664183 1 153064002 [A/G] rs2018193 1 153079072 [A/C] rs10157591 1 153086543 [T/G] rs11586440 1 153091081 [A/G] rs381115 1 153099345 [A/G] rs428913 1 153101488 [T/C] rs533437 1 153119969 [T/C] exm101949 1 153122367 [A/G] NM_001014291 SPRR2G EXON Missense_X74Q variant.6839 1 153122404 [T/G] NM_001014291 SPRR2G EXON Nonsense_Y61X 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 rs1831238 1 153169522 [A/G] exm101965 1 153177184 [A/G] NM_001010857 LELP1 EXON Missense_M1V exm101981 1 153177373 [A/C] NM_001010857 LELP1 EXON Missense_Q64K rs11205222 1 153182979 [A/G] rs1360100 1 153192214 [A/G] rs12081567 1 153200987 [T/C] rs1410863 1 153207274 [A/G] rs4517302 1 153207416 [T/G] rs7523883 1 153214867 [T/C] rs9887773 1 153225114 [T/C] rs7518712 1 153225886 [A/G] rs873233 1 153226983 [A/G] exm2249957 1 153226983 [A/G] rs11589914 1 153230954 [T/C] rs943967 1 153231876 [A/G] exm102031 1 153234299 [A/G] NM_000427 LOR EXON Missense_G292S rs10888547 1 153242088 [T/C] rs4345763 1 153253740 [A/G] rs6587735 1 153265527 [A/G] 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 variant.6842 1 153274940 [A/G] NM_052891 PGLYRP3 EXON Nonsense_R225X exm102062 1 153274972 [A/C] NM_052891 PGLYRP3 EXON Missense_C214F variant.6843 1 153275063 [A/G] NM_052891 PGLYRP3 EXON Nonsense_R184X rs821427 1 153275977 [T/C] NM_052891 PGLYRP3 Silent 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 rs2987760 1 153283495 [A/G] rs821408 1 153296027 [T/C] rs2570440 1 153302827 [T/G] NM_020393 PGLYRP4 EXON Silent exm102119 1 153303326 [T/C] NM_020393 PGLYRP4 EXON Missense_G347S exm102123 1 153303392 [T/C] NM_020393 PGLYRP4 EXON Missense_A325T rs1655310 1 153303930 [A/G] NM_020393 PGLYRP4 Silent 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 rs3006448 1 153314153 [A/C] NM_020393 PGLYRP4 EXON Missense_G192V 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 rs3753460 1 153322574 [T/C] rs11205275 1 153325156 [A/G] rs2916196 1 153328347 [A/G] 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 rs1560832 1 153335384 [A/G] rs3006475 1 153344636 [A/C] variant.6856 1 153346407 [A/G] NM_005621 S100A12 EXON Nonsense_Q59X 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 rs11580467 1 153377503 [T/C] 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 rs3014818 1 153393554 [T/C] NM_176823 S100A7A EXON Silent rs16835308 1 153404808 [T/C] rs12043556 1 153407572 [T/C] rs2026604 1 153408831 [A/G] 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 rs11205297 1 153433696 [T/C] rs10888567 1 153450505 [T/C] exm-rs4845552 1 153479998 [A/G] rs6684970 1 153495244 [T/C] 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 newrs182844223 1 153512529 [T/C] NM_002962 S100A5 Silent 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 variant.6861 1 153516375 [A/G] NM_019554,NM_002961 S100A4,S100A4 EXON Nonsense_Q56X,Nonsense_Q56X exm102362 1 153517129 [T/C] NM_019554,NM_002961 S100A4,S100A4 Silent,Silent rs11488669 1 153517519 [A/G] NM_019554,NM_002961 S100A4,S100A4 Silent,Silent exm102376 1 153520235 [A/G] NM_002960 S100A3 EXON Missense_R77C newrs11390146 1 153520256 [D/I] NM_002960 S100A3 EXON variant.6864 1 153520260 [T/G] NM_002960 S100A3 EXON Nonsense_C68X 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 rs3762268 1 153522350 [A/G] rs8401 1 153533898 [A/G] NM_005978 S100A2 EXON Silent 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 rs9727230 1 153557682 [T/C] 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 rs11548104 1 153587308 [T/C] NM_020672 S100A14 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 indel.6870 1 153587473 [I/D] NM_020672 S100A14 EXON exm1715601 1 153587711 [T/C] NM_020672 S100A14 EXON Synonymous_P59P exm102448 1 153591448 [T/G] NM_005979,NM_001024212,NM_001024211,NM_001024210,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_001024212,NM_001024211,NM_001024210,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 rs3818632 1 153604519 [A/G] NM_001024210 S100A13 EXON Silent exm102500 1 153614810 [A/G] NM_015607,NM_001206612,NM_001244664 CHTOP,CHTOP,CHTOP EXON Missense_R103Q,Missense_R104Q,Silent exm102512 1 153615729 [A/G] NM_015607,NM_001206612,NM_001244664 CHTOP,CHTOP,CHTOP EXON Missense_A144T,Missense_A145T,Silent exm102515 1 153615820 [A/G] NM_015607,NM_001206612,NM_001244664 CHTOP,CHTOP,CHTOP EXON Missense_R174H,Missense_R175H,Silent exm102516 1 153615831 [A/G] NM_015607,NM_001206612,NM_001244664 CHTOP,CHTOP,CHTOP EXON Missense_G178S,Missense_G179S,Silent exm102520 1 153617543 [A/G] NM_015607,NM_001206612,NM_001244664 CHTOP,CHTOP,CHTOP EXON Missense_R182Q,Missense_R183Q,Missense_G75R exm102527 1 153617603 [G/C] NM_015607,NM_001206612,NM_001244664 CHTOP,CHTOP,CHTOP EXON Missense_G202A,Missense_G203A,Silent exm102534 1 153617737 [A/G] NM_015607,NM_001206612,NM_001244664 CHTOP,CHTOP,CHTOP EXON Missense_N247D,Missense_N248D,Silent rs4845563 1 153629026 [A/G] rs7345 1 153634058 [T/G] NM_012437,NR_052019,NR_052020 SNAPIN,SNAPIN,SNAPIN EXON Silent,Silent,Silent exm2249961 1 153635194 [T/C] NM_001267809,NM_004515 ILF2,ILF2 EXON Synonymous_E295E,Synonymous_E333E rs6427671 1 153637404 [A/G] NM_001267809,NM_004515 ILF2,ILF2 Silent,Silent 1KG_1_153641026 1 153641026 [I/D] NM_001267809,NM_004515 ILF2,ILF2 EXON exm102615 1 153652129 [T/C] NM_000906 NPR1 EXON Missense_A182V variant.6878 1 153653740 [T/C] NM_000906 NPR1 EXON Nonsense_Q336X 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 rs6427005 1 153678097 [T/G] rs6427085 1 153687227 [A/C] exm2268764 1 153688250 [T/G] rs7550138 1 153690013 [T/G] rs7552428 1 153696665 [A/G] rs6427268 1 153720690 [A/G] NM_023015 INTS3 Silent 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 variant.6903 1 153751321 [A/G] NM_024330 SLC27A3 EXON Missense_G583S exm102987 1 153751331 [A/G] NM_024330 SLC27A3 EXON Missense_R586H exm2249964 1 153751635 [T/C] NM_024330 SLC27A3 EXON Synonymous_F611F exm102996 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] rs1127091 1 153779412 [A/G] NM_020699 GATAD2B EXON Silent variant.6908 1 153782721 [A/G] NM_020699 GATAD2B EXON Nonsense_Q572X variant.6909 1 153782724 [A/G] NM_020699 GATAD2B EXON Nonsense_R571X 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 variant.6910 1 153789848 [T/C] NM_020699 GATAD2B EXON Synonymous_P300P exm103072 1 153790569 [G/C] NM_020699 GATAD2B EXON Missense_P226A exm103078 1 153792132 [T/C] NM_020699 GATAD2B EXON Missense_S139G rs6690242 1 153801098 [T/C] NM_020699 GATAD2B Silent rs11264446 1 153805735 [T/C] NM_020699 GATAD2B Silent rs10494303 1 153893023 [A/G] NM_020699 GATAD2B Silent 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 rs10127983 1 153923276 [T/C] NM_181715 CRTC2 Silent 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_001271960,NM_014437,NM_001271961,NM_001271958,NM_001271959,NM_001271957 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Missense_G277A,Missense_G277A,Silent,Missense_G277A,Missense_G277A,Missense_G277A exm103372 1 153932809 [A/G] NM_001271960,NM_014437,NM_001271961,NM_001271958,NM_001271959,NM_001271957 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Missense_S247L,Missense_S247L,Silent,Missense_S247L,Missense_S247L,Missense_S247L exm103376 1 153932932 [T/C] NM_001271960,NM_014437,NM_001271961,NM_001271958,NM_001271959,NM_001271957 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Missense_R206Q,Missense_R206Q,Silent,Missense_R206Q,Missense_R206Q,Missense_R206Q exm103378 1 153932965 [T/C] NM_001271960,NM_014437,NM_001271961,NM_001271958,NM_001271959,NM_001271957 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Missense_G195E,Missense_G195E,Silent,Missense_G195E,Missense_G195E,Missense_G195E exm2249965 1 153934786 [A/C] NM_001271960,NM_014437,NM_001271961,NM_001271958,NM_001271959,NM_001271957 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Synonymous_A76A,Synonymous_A76A,Silent,Synonymous_A76A,Synonymous_A76A,Synonymous_A76A exm103395 1 153934820 [T/C] NM_001271960,NM_014437,NM_001271961,NM_001271958,NM_001271959,NM_001271957 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Missense_R65H,Missense_R65H,Silent,Missense_R65H,Missense_R65H,Missense_R65H rs2072704 1 153935543 [A/G] NM_001271960,NM_014437,NM_001271961,NM_001271958,NM_001271959,NM_001271957 SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1,SLC39A1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm103404 1 153940996 [A/C] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 Silent,Silent,Silent,Silent,Silent,Silent exm103406 1 153941005 [A/G] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_D2N,Missense_D2N,Silent,Missense_D2N,Missense_D2N,Missense_D2N exm103409 1 153941030 [A/G] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_D10G,Missense_D10G,Silent,Missense_D10G,Missense_D10G,Missense_D10G exm103412 1 153941105 [T/C] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_P35L,Missense_P35L,Silent,Missense_P35L,Missense_P35L,Missense_P35L variant.6919 1 153941405 [T/G] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 Silent,Silent,Silent,Silent,Silent,Silent exm103420 1 153941506 [A/C] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_S72Y,Missense_S92Y,Silent,Missense_S92Y,Missense_S92Y,Missense_S72Y exm103421 1 153941514 [T/C] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_P75S,Missense_P95S,Silent,Missense_P95S,Missense_P95S,Missense_P75S exm103423 1 153941536 [T/C] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_P82L,Missense_P102L,Silent,Missense_P102L,Missense_P102L,Missense_P82L exm103425 1 153941563 [T/C] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_M91T,Missense_M111T,Silent,Missense_M111T,Missense_M111T,Missense_M91T exm103438 1 153941931 [A/G] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Synonymous_L161L,Synonymous_L181L,Silent,Synonymous_L181L,Synonymous_L181L,Synonymous_L161L exm103445 1 153945502 [A/G] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_A211T,Missense_A231T,Silent,Missense_A231T,Missense_A231T,Missense_A211T exm103455 1 153945876 [A/G] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_R258H,Missense_R278H,Silent,Missense_R278H,Missense_R278H,Missense_R258H exm103465 1 153946189 [C/G] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_G311R,Missense_G331R,Silent,Missense_G331R,Missense_G331R,Missense_G311R exm1716002 1 153946380 [A/G] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_V323I,Missense_V343I,Silent,Missense_V343I,Missense_V343I,Missense_V323I exm103468 1 153946404 [C/G] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_V331L,Missense_V351L,Silent,Missense_V351L,Missense_V351L,Missense_V331L exm103471 1 153946450 [A/G] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_N346S,Missense_N366S,Silent,Missense_N366S,Missense_N366S,Missense_N346S exm103472 1 153946473 [A/G] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_E354K,Missense_E374K,Silent,Missense_E374K,Missense_E374K,Missense_E354K exm103473 1 153946503 [A/G] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_G364R,Missense_G384R,Silent,Missense_G384R,Missense_G384R,Missense_G364R exm103476 1 153946513 [A/G] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_R367Q,Missense_R387Q,Silent,Missense_R387Q,Missense_R387Q,Missense_R367Q exm103477 1 153946515 [T/A] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_S368T,Missense_S388T,Silent,Missense_S388T,Missense_S388T,Missense_S368T exm103478 1 153946518 [A/G] NM_001255980,NM_130898,NR_045658,NM_001255978,NM_001255979,NM_001255981 CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4,CREB3L4 EXON Missense_V369M,Missense_V389M,Silent,Missense_V389M,Missense_V389M,Missense_V369M 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 indel.6922 1 153949211 [I/D] NM_006694 JTB EXON exm103500 1 153949683 [A/G] NM_006694 JTB EXON Missense_L16F exm103508 1 153954646 [T/C] NR_073553,NM_001272038,NM_002870 RAB13,RAB13,RAB13 EXON Silent,Missense_G100S,Missense_G181S exm103522 1 153955054 [T/C] NR_073553,NM_001272038,NM_002870 RAB13,RAB13,RAB13 EXON Silent,Missense_R65Q,Missense_R146Q exm103524 1 153955069 [T/C] NR_073553,NM_001272038,NM_002870 RAB13,RAB13,RAB13 EXON Silent,Missense_R60Q,Missense_R141Q variant.6924 1 153955695 [T/C] NR_073553,NM_001272038,NM_002870 RAB13,RAB13,RAB13 EXON Silent,Synonymous_E27E,Synonymous_E108E exm103535 1 153957201 [T/C] NR_073553,NM_001272038,NM_002870 RAB13,RAB13,RAB13 EXON Silent,Silent,Missense_V61I 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 indel.6925 1 153965382 [I/D] NM_207308,NM_001159484 NUP210L,NUP210L EXON exm103578 1 153967569 [A/G] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_T1825I,Missense_T1673I variant.6926 1 153973331 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L Silent,Silent 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 1KG_1_153984801 1 153984801 [D/I] NM_207308,NM_001159484 NUP210L,NUP210L EXON rs12048137 1 153992734 [T/G] NM_207308,NM_001159484 NUP210L,NUP210L Silent,Silent exm103616 1 153994647 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_V1491I,Missense_V1491I rs11264875 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 variant.6927 1 154018665 [A/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Nonsense_Y1192X,Nonsense_Y1192X exm103643 1 154018835 [T/G] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_Q1165P,Missense_Q1165P rs3001365 1 154019182 [A/C] NM_207308,NM_001159484 NUP210L,NUP210L Silent,Silent variant.6928 1 154026699 [A/G] NM_207308,NM_001159484 NUP210L,NUP210L Silent,Silent exm103650 1 154026847 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L EXON Missense_V1114I,Missense_V1114I variant.6929 1 154029286 [T/C] NM_207308,NM_001159484 NUP210L,NUP210L Silent,Silent 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 indel.6931 1 154072561 [I/D] NM_207308,NM_001159484 NUP210L,NUP210L EXON 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 var_1_154098798 1 154098798 [T/C] 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 variant.6936 1 154113950 [A/G] NM_207308,NM_001159484 NUP210L,NUP210L EXON Nonsense_Q175X,Nonsense_Q175X 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 rs4521985 1 154123523 [A/G] NM_207308,NM_001159484 NUP210L,NUP210L Silent,Silent 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 variant.6938 1 154131501 [A/G] NM_001043353,NM_001043352,NM_153649,NM_001043351 TPM3,TPM3,TPM3,TPM3 EXON Nonsense_R230X,Nonsense_R230X,Silent,Silent exm103788 1 154143165 [T/A] NM_001043353,NM_001043352,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_001043353,NM_001043352,NM_153649,NM_001043351,NM_152263 TPM3,TPM3,TPM3,TPM3,TPM3 EXON Silent,Missense_R153C,Missense_R153C,Silent,Silent rs11265238 1 154149767 [T/C] NM_001043353,NM_001043352,NM_153649,NM_001043351,NM_152263 TPM3,TPM3,TPM3,TPM3,TPM3 Silent,Silent,Silent,Silent,Silent exm103808 1 154155480 [T/C] NM_001043353,NM_001043352,NM_153649,NM_001043351,NM_152263 TPM3,TPM3,TPM3,TPM3,TPM3 EXON Missense_R39K,Missense_R39K,Missense_R39K,Missense_R39K,Silent rs4845605 1 154158387 [T/C] NM_152263 TPM3 Silent indel.6940 1 154164373 [I/D] NM_152263 TPM3 exm103813 1 154164403 [T/G] NM_152263 TPM3 EXON Missense_K31T variant.6941 1 154171918 [A/C] NM_001010979 C1orf189 EXON Nonsense_Y97X exm103826 1 154173005 [A/G] NM_001010979 C1orf189 EXON Missense_P45L exm103827 1 154173059 [T/C] NM_001010979 C1orf189 EXON Missense_R27Q variant.6943 1 154173060 [A/G] NM_001010979 C1orf189 EXON Nonsense_R27X exm103831 1 154178081 [T/C] NM_001010979 C1orf189 EXON Missense_V23I exm1716156 1 154178115 [C/G] NM_001010979 C1orf189 Silent rs6719 1 154179679 [T/C] NM_001098616,NM_138740,NM_015449 C1orf43,C1orf43,C1orf43 EXON Silent,Silent,Silent exm1716162 1 154184830 [A/G] NM_001098616,NM_138740,NM_015449 C1orf43,C1orf43,C1orf43 EXON Missense_R178C,Missense_R126C,Missense_R144C exm103849 1 154184993 [A/G] NM_001098616,NM_138740,NM_015449 C1orf43,C1orf43,C1orf43 EXON Missense_R150C,Missense_R98C,Missense_R116C exm103851 1 154185037 [T/C] NM_001098616,NM_138740,NM_015449 C1orf43,C1orf43,C1orf43 EXON Missense_Y135C,Missense_Y83C,Missense_Y101C variant.6947 1 154186928 [A/C] NM_001098616,NM_138740,NM_015449 C1orf43,C1orf43,C1orf43 Silent,Silent,Silent exm103863 1 154187028 [A/G] NM_001098616,NM_138740,NM_015449 C1orf43,C1orf43,C1orf43 EXON Missense_I64T,Missense_I30T,Missense_I30T indel.6948 1 154192392 [I/D] NM_001098616,NM_138740,NM_015449 C1orf43,C1orf43,C1orf43 EXON 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 variant.6950 1 154229946 [T/G] NM_001127320,NM_014847 UBAP2L,UBAP2L Silent,Silent 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 rs1212352 1 154239283 [A/T] NM_014847 UBAP2L Silent rs1044013 1 154243115 [T/C] NM_014847 UBAP2L EXON Silent rs1194594 1 154244854 [A/G] rs11265425 1 154245142 [T/G] NM_001018837,NM_006118 HAX1,HAX1 EXON Silent,Silent 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 newrs149409924 1 154247447 [A/G] NM_001018837,NM_006118 HAX1,HAX1 EXON Missense_D128N,Missense_D176N indel.6957 1 154247622 [I/D] NM_001018837,NM_006118 HAX1,HAX1 exm104042 1 154247666 [T/C] NM_001018837,NM_006118 HAX1,HAX1 EXON Missense_P150L,Missense_P198L variant.6958 1 154247929 [T/C] NM_001018837,NM_006118 HAX1,HAX1 EXON Nonsense_R194X,Nonsense_R242X 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 rs7521837 1 154252860 [T/C] rs1685633 1 154291718 [A/G] variant.6960 1 154295457 [A/G] NM_080429 AQP10 Silent exm104078 1 154295592 [T/C] NM_080429 AQP10 EXON Missense_H123Y exm104079 1 154295594 [T/C] NM_080429 AQP10 EXON Synonymous_H123H rs1194610 1 154296076 [T/C] NM_080429 AQP10 EXON Synonymous_T167T 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 rs6702754 1 154303976 [T/C] NM_001005855,NM_020452 ATP8B2,ATP8B2 EXON Synonymous_N120N,Synonymous_N153N rs11586379 1 154307630 [T/C] NM_001005855,NM_020452 ATP8B2,ATP8B2 Silent,Silent rs2988721 1 154308641 [A/C] NM_001005855,NM_020452 ATP8B2,ATP8B2 Silent,Silent 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 rs4040747 1 154326279 [T/G] rs6696089 1 154332870 [A/G] rs4406622 1 154346416 [A/G] rs3811451 1 154350589 [T/C] rs11582424 1 154363985 [A/C] rs952146 1 154368928 [A/G] rs17654071 1 154369252 [A/G] exm2268765 1 154400015 [T/G] NM_001206866,NM_181359,NM_000565 IL6R,IL6R,IL6R Silent,Silent,Silent exm104278 1 154401780 [T/C] NM_001206866,NM_181359,NM_000565 IL6R,IL6R,IL6R EXON Missense_P65L,Missense_P65L,Missense_P65L exm104281 1 154401825 [T/G] NM_001206866,NM_181359,NM_000565 IL6R,IL6R,IL6R EXON Missense_R80M,Missense_R80M,Missense_R80M exm104283 1 154401858 [T/C] NM_001206866,NM_181359,NM_000565 IL6R,IL6R,IL6R EXON Missense_S91F,Missense_S91F,Missense_S91F rs7553796 1 154404406 [A/C] NM_001206866,NM_181359,NM_000565 IL6R,IL6R,IL6R Silent,Silent,Silent exm104296 1 154407101 [A/G] NM_001206866,NM_181359,NM_000565 IL6R,IL6R,IL6R EXON Missense_I189V,Missense_I189V,Missense_I189V exm104297 1 154407110 [A/G] NM_001206866,NM_181359,NM_000565 IL6R,IL6R,IL6R EXON Missense_M192V,Missense_M192V,Missense_M192V exm104310 1 154408560 [T/C] NM_001206866,NM_181359,NM_000565 IL6R,IL6R,IL6R EXON Missense_P308L,Missense_P308L,Missense_P308L rs4537545 1 154418879 [T/C] NM_181359,NM_000565 IL6R,IL6R Silent,Silent exm-rs4537545 1 154418879 [T/C] NM_181359,NM_000565 IL6R,IL6R Silent,Silent exm-rs4845625 1 154422067 [T/C] NM_181359,NM_000565 IL6R,IL6R Silent,Silent exm-rs4129267 1 154426264 [T/C] NM_181359,NM_000565 IL6R,IL6R Silent,Silent exm104320 1 154426970 [A/C] NM_181359,NM_000565 IL6R,IL6R EXON Silent,Missense_D358A exm104324 1 154427050 [A/G] NM_181359,NM_000565 IL6R,IL6R EXON Silent,Missense_V385I rs4240872 1 154436195 [T/C] NM_181359,NM_000565 IL6R,IL6R Silent,Silent exm104332 1 154437632 [T/C] NM_181359,NM_000565 IL6R,IL6R EXON Synonymous_C363C,Missense_R395W exm104344 1 154437801 [C/G] NM_181359,NM_000565 IL6R,IL6R EXON Silent,Missense_R451T rs2229238 1 154437896 [T/C] NM_181359,NM_000565 IL6R,IL6R EXON Silent,Silent rs7514452 1 154438084 [T/C] NM_181359,NM_000565 IL6R,IL6R EXON Silent,Silent rs4474240 1 154457855 [A/C] NM_001010846 SHE 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 rs5018567 1 154480318 [T/C] NM_001098475,NM_182499 TDRD10,TDRD10 Silent,Silent exm104412 1 154493878 [T/C] NM_001098475,NM_182499 TDRD10,TDRD10 EXON Nonsense_R98X,Nonsense_R98X indel.6976 1 154493907 [D/I] NM_001098475,NM_182499 TDRD10,TDRD10 EXON 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 rs6678164 1 154516571 [T/C] NM_001098475,NM_182499 TDRD10,TDRD10 EXON Synonymous_A212A,Synonymous_A212A 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 variant.6979 1 154520045 [A/G] NM_001098475,NM_182499 TDRD10,TDRD10 EXON Silent,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 rs3811450 1 154551032 [T/C] NM_000748 CHRNB2 EXON Silent rs11264222 1 154554357 [T/C] exm104596 1 154557735 [T/C] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_Y1134C,Missense_Y1089C,Missense_Y1108C,Missense_Y839C,Missense_Y839C exm104604 1 154560602 [A/G] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR EXON Synonymous_N1006N,Synonymous_N961N,Synonymous_N980N,Synonymous_N711N,Synonymous_N711N variant.6985 1 154560739 [A/G] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR Silent,Silent,Silent,Silent,Silent exm104636 1 154562881 [T/C] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_V759I,Missense_V740I,Missense_V759I,Missense_V464I,Missense_V464I rs9426823 1 154568665 [A/G] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR Silent,Silent,Silent,Silent,Silent rs9427097 1 154568683 [T/G] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR Silent,Silent,Silent,Silent,Silent variant.6987 1 154570304 [T/C] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_K645R,Missense_K645R,Missense_K645R,Missense_K350R,Missense_K350R variant.6988 1 154570412 [A/G] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_F609S,Missense_F609S,Missense_F609S,Missense_F314S,Missense_F314S newrs17843866 1 154570873 [T/C] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR Silent,Silent,Silent,Silent,Silent exm104654 1 154570903 [T/C] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_Y587C,Missense_Y587C,Missense_Y587C,Missense_Y292C,Missense_Y292C rs3738032 1 154573419 [T/C] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR Silent,Silent,Silent,Silent,Silent exm104667 1 154573718 [T/C] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_R467H,Missense_R467H,Missense_R467H,Missense_R172H,Missense_R172H exm104672 1 154573967 [T/C] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_K384R,Missense_K384R,Missense_K384R,Missense_K89R,Missense_K89R exm104686 1 154574346 [T/C] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_G258R,Missense_G258R,Missense_G258R,Silent,Silent variant.6991 1 154574598 [A/G] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR EXON Nonsense_R174X,Nonsense_R174X,Nonsense_R174X,Silent,Silent exm104695 1 154574600 [T/C] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_N173S,Missense_N173S,Missense_N173S,Silent,Silent exm104699 1 154574820 [T/C] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_R100G,Missense_R100G,Missense_R100G,Silent,Silent exm104701 1 154574903 [T/C] NM_001111,NM_015841,NM_015840,NM_001025107,NM_001193495 ADAR,ADAR,ADAR,ADAR,ADAR EXON Missense_R72Q,Missense_R72Q,Missense_R72Q,Silent,Silent rs2335230 1 154589628 [A/C] NM_001025107 ADAR Silent rs9426830 1 154594690 [A/G] NM_001025107 ADAR Silent rs884617 1 154600998 [A/G] rs9427114 1 154626705 [T/C] rs1876304 1 154633513 [T/G] rs7534678 1 154635448 [T/C] rs7547072 1 154639255 [T/C] rs6696760 1 154673755 [A/G] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 EXON Silent,Silent,Silent exm104734 1 154680636 [T/G] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 EXON Missense_N671T,Missense_N686T,Missense_N366T rs6695232 1 154681950 [A/G] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent exm2268766 1 154688197 [T/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs10128027 1 154691445 [T/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs10494301 1 154701218 [T/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent exm104742 1 154705480 [A/G] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 EXON Missense_M530T,Missense_M545T,Missense_M225T rs10908431 1 154716883 [T/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs16836320 1 154717908 [T/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs906278 1 154718738 [T/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs4845668 1 154726242 [T/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs6682291 1 154732776 [A/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs7513331 1 154736240 [A/G] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs11808053 1 154749047 [T/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs6426929 1 154750989 [A/G] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs11264262 1 154756589 [T/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs883319 1 154758422 [T/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs11584635 1 154760965 [T/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs12737434 1 154772089 [A/G] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs6699284 1 154774916 [A/G] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs12029542 1 154794897 [A/G] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs11264268 1 154796520 [A/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs6681392 1 154796712 [T/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs1218578 1 154810030 [A/G] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs6666258 1 154814268 [G/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent exm-rs13376333 1 154814353 [T/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs6666891 1 154814917 [A/G] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs1218565 1 154817687 [T/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent rs11264275 1 154825270 [T/G] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 Silent,Silent,Silent exm104761 1 154832178 [T/G] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 EXON Silent,Silent,Missense_P4H rs1061122 1 154832290 [T/C] NM_002249,NM_001204087,NM_170782 KCNN3,KCNN3,KCNN3 EXON Silent,Silent,Silent rs7553195 1 154837796 [T/C] NM_002249,NM_001204087 KCNN3,KCNN3 Silent,Silent exm104777 1 154842034 [A/G] NM_002249,NM_001204087 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 rs6699043 1 154913021 [T/C] variant.6998 1 154918043 [A/C] NM_020524 PBXIP1 Silent variant.6999 1 154918070 [A/C] NM_020524 PBXIP1 EXON Nonsense_G694X 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 variant.7002 1 154918636 [T/C] NM_020524 PBXIP1 EXON Nonsense_W505X 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 1KG_1_154931796 1 154931796 [D/I] NM_138300 PYGO2 EXON exm104995 1 154936389 [A/G] NM_001130040,NM_183001,NM_001130041,NM_003029,NM_001202859 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_R549C,Missense_R548C,Missense_R438C,Missense_R439C,Missense_R393C indel.7011 1 154936676 [D/I] NM_001130040,NM_183001,NM_001130041,NM_003029,NM_001202859 SHC1,SHC1,SHC1,SHC1,SHC1 exm105011 1 154938215 [A/G] NM_001130040,NM_183001,NM_001130041,NM_003029,NM_001202859 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_S477L,Missense_S476L,Missense_S366L,Missense_S367L,Missense_S321L exm105018 1 154938454 [T/C] NM_001130040,NM_183001,NM_001130041,NM_003029,NM_001202859 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_N452S,Missense_N451S,Missense_N341S,Missense_N342S,Missense_N296S exm105023 1 154938662 [T/C] NM_001130040,NM_183001,NM_001130041,NM_003029,NM_001202859 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_M410V,Missense_M410V,Missense_M300V,Missense_M300V,Missense_M255V exm105045 1 154941066 [T/C] NM_001130040,NM_183001,NM_001130041,NM_003029,NM_001202859 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_I219V,Missense_I219V,Missense_I109V,Missense_I109V,Missense_I64V exm105046 1 154941077 [A/G] NM_001130040,NM_183001,NM_001130041,NM_003029,NM_001202859 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_P215L,Missense_P215L,Missense_P105L,Missense_P105L,Missense_P60L exm105049 1 154941263 [A/G] NM_001130040,NM_183001,NM_001130041,NM_003029,NM_001202859 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_A205V,Missense_A205V,Missense_A95V,Missense_A95V,Missense_A50V exm105062 1 154942785 [A/G] NM_001130040,NM_183001,NM_001130041,NM_003029,NM_001202859 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_P73L,Missense_P73L,Silent,Silent,Silent exm1716677 1 154942861 [A/G] NM_001130040,NM_183001,NM_001130041,NM_003029,NM_001202859 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_P48S,Missense_P48S,Silent,Silent,Silent exm105066 1 154942911 [A/G] NM_001130040,NM_183001,NM_001130041,NM_003029,NM_001202859 SHC1,SHC1,SHC1,SHC1,SHC1 EXON Missense_P31L,Missense_P31L,Silent,Silent,Silent rs12076073 1 154944156 [A/G] NM_001130041,NM_003029,NM_001202859 SHC1,SHC1,SHC1 Silent,Silent,Silent variant.7016 1 154947389 [T/G] NM_001826,NR_024163 CKS1B,CKS1B Silent,Silent newrs149321878 1 154956201 [T/C] NM_001184892,NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1,FLAD1 EXON Silent,Silent,Nonsense_Q11X,Silent exm105083 1 154956267 [A/G] NM_001184892,NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1,FLAD1 EXON Silent,Silent,Missense_G33R,Silent exm105089 1 154956373 [A/G] NM_001184892,NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1,FLAD1 EXON Silent,Silent,Missense_D68G,Silent exm2231397 1 154960524 [A/T] NM_001184892,NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_T7S,Silent,Silent,Silent exm105097 1 154960651 [A/G] NM_001184892,NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_R49Q,Missense_R51Q,Missense_R148Q,Missense_R51Q exm105101 1 154960848 [A/G] NM_001184892,NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_G115R,Missense_G117R,Missense_G214R,Missense_G117R exm105107 1 154960891 [A/G] NM_001184892,NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_R129H,Missense_R131H,Missense_R228H,Missense_R131H exm105112 1 154960953 [T/C] NM_001184892,NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1,FLAD1 EXON Nonsense_R150X,Nonsense_R152X,Nonsense_R249X,Nonsense_R152X exm105114 1 154960995 [T/C] NM_001184892,NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_R164W,Missense_R166W,Missense_R263W,Missense_R166W exm105116 1 154961011 [T/G] NM_001184892,NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_M169R,Missense_M171R,Missense_M268R,Missense_M171R exm1716699 1 154961125 [A/G] NM_001184892,NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_R207H,Missense_R209H,Missense_R306H,Missense_R209H exm105120 1 154961153 [A/C] NM_001184892,NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_D216E,Missense_D218E,Missense_D315E,Missense_D218E exm105124 1 154961241 [T/C] NM_001184892,NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1,FLAD1 EXON Missense_R246C,Missense_R248C,Missense_R345C,Missense_R248C exm105135 1 154962102 [A/G] NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1 EXON Missense_S298N,Missense_S395N,Missense_S298N exm105138 1 154962678 [T/C] NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1 EXON Missense_R340C,Missense_R437C,Missense_R340C exm105139 1 154962679 [A/G] NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1 EXON Missense_R340H,Missense_R437H,Missense_R340H exm1716708 1 154962945 [T/C] NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1 EXON Missense_C402R,Missense_C499R,Missense_C402R variant.7026 1 154965061 [T/C] NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1 Silent,Silent,Silent exm105158 1 154965223 [A/G] NM_201398,NM_025207,NM_001184891 FLAD1,FLAD1,FLAD1 EXON Missense_R433H,Missense_R530H,Missense_R433H exm105159 1 154965244 [G/C] NM_201398,NM_025207,NM_001184891 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,NR_046206,NR_045515,NM_001252406,NM_001256455 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Silent,Silent,Silent,Missense_G103R,Missense_G69R exm105187 1 154987368 [A/G] NR_049765,NR_046206,NR_045515,NM_001252406,NM_001256455 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Silent,Silent,Silent,Missense_G112R,Missense_G78R rs11264295 1 154987526 [T/C] NR_049765,NR_046206,NR_045515,NM_001252406,NM_001256455 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Silent,Silent,Silent,Synonymous_I164I,Synonymous_I130I exm105208 1 154987704 [T/C] NR_049765,NR_046206,NR_045515,NM_001252406,NM_001256455 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Silent,Silent,Silent,Missense_P224S,Missense_P190S exm105226 1 154987947 [A/G] NR_049765,NR_046206,NR_045515,NM_001252406,NM_001256455 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Silent,Silent,Silent,Missense_E305K,Missense_E271K exm105229 1 154987980 [A/C] NR_049765,NR_046206,NR_045515,NM_001252406,NM_001256455 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Silent,Silent,Silent,Missense_L316M,Missense_L282M exm105233 1 154988019 [A/G] NR_049765,NR_046206,NR_045515,NM_001252406,NM_001256455 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Silent,Silent,Silent,Missense_G329R,Missense_G295R exm105236 1 154988116 [A/C] NR_049765,NR_046206,NR_045515,NM_001252406,NM_001256455 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Silent,Silent,Silent,Missense_A361E,Missense_A327E exm105257 1 154989025 [A/G] NR_049765,NR_046206,NR_045515,NM_001252406,NM_001256455 ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B,ZBTB7B EXON Silent,Silent,Silent,Missense_R529H,Missense_R495H 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 variant.7036 1 154999056 [T/G] NM_144622 DCST2 EXON Nonsense_S493X exm105321 1 154999134 [T/C] NM_144622 DCST2 EXON Missense_R467H exm105324 1 154999189 [G/C] NM_144622 DCST2 EXON Missense_P449A variant.7037 1 155001811 [A/G] NM_144622 DCST2 EXON Nonsense_R414X exm105327 1 155001829 [T/C] NM_144622 DCST2 EXON Missense_E408K newrs149078228 1 155001836 [T/G] NM_144622 DCST2 EXON Nonsense_Y405X indel.7039 1 155001838 [I/D] NM_144622 DCST2 EXON 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 1KG_1_155004214 1 155004214 [D/I] NM_144622 DCST2 EXON exm1716776 1 155004236 [A/G] NM_144622 DCST2 EXON Missense_R185W variant.7045 1 155005138 [T/C] NM_144622 DCST2 Silent 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_001143687,NM_152494 DCST1,DCST1 EXON Silent,Missense_Y75C exm105426 1 155007181 [T/G] NM_001143687,NM_152494 DCST1,DCST1 EXON Silent,Missense_I80M exm1716792 1 155007194 [A/G] NM_001143687,NM_152494 DCST1,DCST1 EXON Silent,Missense_S85G variant.7049 1 155007208 [A/G] NM_001143687,NM_152494 DCST1,DCST1 Silent,Silent rs4845404 1 155007293 [T/C] NM_001143687,NM_152494 DCST1,DCST1 Silent,Silent exm105432 1 155011917 [T/C] NM_001143687,NM_152494 DCST1,DCST1 EXON Missense_R76C,Missense_R101C exm105435 1 155012002 [A/T] NM_001143687,NM_152494 DCST1,DCST1 EXON Missense_Y104F,Missense_Y129F exm105438 1 155013020 [A/G] NM_001143687,NM_152494 DCST1,DCST1 EXON Missense_V126M,Missense_V151M exm105439 1 155013042 [T/C] NM_001143687,NM_152494 DCST1,DCST1 EXON Missense_T133I,Missense_T158I exm105442 1 155013056 [T/C] NM_001143687,NM_152494 DCST1,DCST1 EXON Missense_R138C,Missense_R163C exm105446 1 155013903 [T/C] NM_001143687,NM_152494 DCST1,DCST1 EXON Missense_R163W,Missense_R188W exm1716805 1 155014223 [A/G] NM_001143687,NM_152494 DCST1,DCST1 EXON Missense_R236H,Missense_R261H exm105465 1 155015228 [T/C] NM_001143687,NM_152494 DCST1,DCST1 EXON Missense_R279C,Missense_R304C exm105470 1 155015333 [A/G] NM_001143687,NM_152494 DCST1,DCST1 Silent,Silent exm1716810 1 155015844 [A/G] NM_001143687,NM_152494 DCST1,DCST1 EXON Missense_G319E,Missense_G344E exm105485 1 155015906 [T/C] NM_001143687,NM_152494 DCST1,DCST1 EXON Missense_R340C,Missense_R365C exm105490 1 155015986 [A/G] NM_001143687,NM_152494 DCST1,DCST1 Silent,Silent exm105491 1 155018436 [T/C] NM_001143687,NM_152494,NR_040773,NR_040772 DCST1,DCST1,LOC100505666,LOC100505666 EXON Missense_F389L,Missense_F414L,Silent,Silent exm105495 1 155018836 [A/G] NM_001143687,NM_152494,NR_040773,NR_040772 DCST1,DCST1,LOC100505666,LOC100505666 EXON Missense_V432M,Missense_V457M,Silent,Silent exm105506 1 155019711 [T/C] NM_001143687,NM_152494,NR_040773,NR_040772 DCST1,DCST1,LOC100505666,LOC100505666 EXON Missense_M487T,Missense_M512T,Silent,Silent exm105507 1 155019720 [A/G] NM_001143687,NM_152494,NR_040773,NR_040772 DCST1,DCST1,LOC100505666,LOC100505666 EXON Missense_R490Q,Missense_R515Q,Silent,Silent exm105509 1 155019738 [T/C] NM_001143687,NM_152494,NR_040773,NR_040772 DCST1,DCST1,LOC100505666,LOC100505666 EXON Missense_I496T,Missense_I521T,Silent,Silent exm105524 1 155020629 [T/C] NM_001143687,NM_152494,NR_040773,NR_040772 DCST1,DCST1,LOC100505666,LOC100505666 EXON Nonsense_R593X,Nonsense_R618X,Silent,Silent exm105526 1 155020645 [T/C] NM_001143687,NM_152494,NR_040773,NR_040772 DCST1,DCST1,LOC100505666,LOC100505666 EXON Missense_P598L,Missense_P623L,Silent,Silent exm2231407 1 155025186 [T/C] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_P40L,Missense_P40L,Silent,Missense_P40L,Nonsense_R50X,Missense_P40L,Missense_P50L,Silent,Missense_P40L,Missense_P40L,Missense_P40L,Silent exm105539 1 155025894 [C/G] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_T63S,Missense_T63S,Silent,Missense_T63S,Silent,Missense_T63S,Missense_T73S,Silent,Missense_T63S,Missense_T63S,Missense_T63S,Silent exm105541 1 155025945 [T/A] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_H80L,Missense_H80L,Silent,Missense_H80L,Silent,Missense_H80L,Missense_H90L,Silent,Missense_H80L,Missense_H80L,Missense_H80L,Silent exm105546 1 155026438 [T/C] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R106W,Missense_R106W,Silent,Missense_R106W,Missense_R90W,Missense_R106W,Missense_R116W,Silent,Missense_R106W,Missense_R106W,Missense_R106W,Silent exm105552 1 155026654 [A/G] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R124Q,Missense_R124Q,Silent,Missense_R124Q,Missense_R108Q,Missense_R124Q,Missense_R134Q,Silent,Missense_R124Q,Missense_R124Q,Missense_R124Q,Silent exm105555 1 155026798 [T/G] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_V143G,Missense_V143G,Silent,Missense_V143G,Missense_V127G,Missense_V143G,Missense_V153G,Silent,Missense_V143G,Missense_V143G,Missense_V143G,Silent exm105564 1 155026942 [A/C] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_K191T,Missense_K191T,Silent,Missense_K191T,Missense_K175T,Missense_K191T,Missense_K201T,Silent,Missense_K191T,Missense_K191T,Missense_K191T,Silent exm2249978 1 155026952 [A/G] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Synonymous_E194E,Synonymous_E194E,Silent,Synonymous_E194E,Synonymous_E178E,Synonymous_E194E,Synonymous_E204E,Silent,Synonymous_E194E,Synonymous_E194E,Synonymous_E194E,Silent newrs145175840 1 155028328 [A/G] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Synonymous_E225E,Synonymous_E225E,Silent,Synonymous_E225E,Synonymous_E209E,Synonymous_E225E,Synonymous_E235E,Silent,Synonymous_E225E,Synonymous_E225E,Synonymous_E225E,Silent exm105575 1 155028450 [A/C] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_L240M,Missense_L240M,Silent,Missense_L240M,Missense_L224M,Missense_L240M,Missense_L250M,Silent,Missense_L240M,Missense_L240M,Missense_L240M,Silent exm105581 1 155028614 [A/G] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R268H,Missense_R268H,Silent,Missense_R268H,Missense_R252H,Missense_R268H,Missense_R278H,Silent,Missense_R268H,Missense_R268H,Missense_R268H,Silent exm105584 1 155028692 [T/C] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_P294L,Missense_P294L,Silent,Missense_P294L,Missense_P278L,Missense_P294L,Missense_P304L,Silent,Missense_P294L,Missense_P294L,Missense_P294L,Silent exm105585 1 155028713 [T/C] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_A301V,Missense_A301V,Silent,Missense_A301V,Missense_A285V,Missense_A301V,Missense_A311V,Silent,Missense_A301V,Missense_A301V,Missense_A301V,Silent variant.7067 1 155028935 [A/G] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_G330S,Missense_G330S,Silent,Missense_G330S,Missense_G314S,Missense_G330S,Missense_G340S,Silent,Missense_G330S,Missense_G330S,Missense_G330S,Silent exm105597 1 155029702 [A/G] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R396Q,Missense_R396Q,Silent,Missense_R396Q,Missense_R380Q,Missense_R396Q,Missense_R406Q,Silent,Missense_R396Q,Missense_R396Q,Missense_R396Q,Silent exm105602 1 155029773 [A/C] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_M420L,Missense_M420L,Silent,Missense_M420L,Missense_M404L,Missense_M420L,Missense_M430L,Silent,Missense_M420L,Missense_M420L,Missense_M420L,Silent exm105612 1 155030330 [T/C] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R474C,Missense_R474C,Silent,Missense_R474C,Missense_R458C,Missense_R474C,Missense_R484C,Silent,Missense_R474C,Missense_R474C,Missense_R474C,Silent exm1716856 1 155030352 [A/G] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R481H,Missense_R481H,Silent,Missense_R481H,Missense_R465H,Missense_R481H,Missense_R491H,Silent,Missense_R481H,Missense_R481H,Missense_R481H,Silent exm105614 1 155030364 [A/G] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_G485E,Missense_G485E,Silent,Missense_G485E,Missense_G469E,Missense_G485E,Missense_G495E,Silent,Missense_G485E,Missense_G485E,Missense_G485E,Silent exm105621 1 155030534 [A/G] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_A542T,Missense_A542T,Silent,Missense_A542T,Missense_A526T,Missense_A542T,Missense_A552T,Silent,Missense_A542T,Missense_A542T,Missense_A542T,Silent exm105622 1 155030538 [T/C] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_A543V,Missense_A543V,Silent,Missense_A543V,Missense_A527V,Missense_A543V,Missense_A553V,Silent,Missense_A543V,Missense_A543V,Missense_A543V,Silent exm105625 1 155030595 [A/G] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_R562H,Missense_R562H,Silent,Missense_R562H,Missense_R546H,Missense_R562H,Missense_R572H,Silent,Missense_R562H,Missense_R562H,Missense_R562H,Silent exm105626 1 155030599 [A/C] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261466,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_N563K,Missense_N563K,Silent,Missense_N563K,Missense_N547K,Missense_N563K,Missense_N573K,Silent,Missense_N563K,Missense_N563K,Missense_N563K,Silent exm-rs12023499 1 155031376 [T/C] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 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_207197,NM_003815,NR_048577,NM_207196,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_S714G,Missense_S714G,Silent,Missense_S714G,Missense_S714G,Missense_S724G,Silent,Missense_S714G,Missense_S714G,Missense_S714G,Silent exm105644 1 155032806 [A/C] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_T732P,Missense_T732P,Silent,Missense_T732P,Missense_T732P,Missense_T742P,Silent,Missense_T732P,Missense_T732P,Missense_T732P,Silent exm105645 1 155032818 [A/C] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Synonymous_R736R,Synonymous_R736R,Silent,Synonymous_R736R,Synonymous_R736R,Synonymous_R746R,Silent,Missense_S736R,Synonymous_R736R,Synonymous_R736R,Silent exm105654 1 155033308 [A/G] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Synonymous_K759K,Synonymous_K759K,Silent,Synonymous_K759K,Silent,Synonymous_K769K,Silent,Silent,Synonymous_K759K,Synonymous_K759K,Silent exm105657 1 155033913 [T/C] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_P767L,Silent,Silent,Missense_P766L,Missense_R743W,Silent,Silent,Silent,Silent,Missense_P767L,Silent exm105658 1 155033918 [T/C] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_P769S,Silent,Silent,Missense_P768S,Synonymous_P744P,Silent,Silent,Silent,Silent,Missense_P769S,Silent exm2275495 1 155033921 [A/C] NR_040773,NM_207197,NM_003815,NR_048577,NM_207196,NM_001261465,NM_001261464,NR_048579,NM_207191,NM_207195,NM_207194,NR_048578 LOC100505666,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15,ADAM15 EXON Silent,Missense_P770T,Silent,Silent,Missense_P769T,Synonymous_P745P,Silent,Silent,Silent,Silent,Missense_P770T,Silent exm105681 1 155039225 [G/C] NM_182690,NM_182689,NM_005227 EFNA4,EFNA4,EFNA4 EXON Missense_V45L,Missense_V45L,Missense_V45L exm105682 1 155039270 [T/C] NM_182690,NM_182689,NM_005227 EFNA4,EFNA4,EFNA4 EXON Missense_H60Y,Missense_H60Y,Missense_H60Y exm105694 1 155039441 [A/C] NM_182690,NM_182689,NM_005227 EFNA4,EFNA4,EFNA4 EXON Missense_P117T,Missense_P117T,Missense_P117T exm105696 1 155039849 [A/G] NM_182690,NM_182689,NM_005227 EFNA4,EFNA4,EFNA4 EXON Synonymous_S134S,Synonymous_S134S,Synonymous_S134S exm105701 1 155041330 [T/G] NM_182690,NM_182689,NM_005227 EFNA4,EFNA4,EFNA4 EXON Silent,Silent,Missense_K157N exm105707 1 155041449 [T/G] NM_182690,NM_182689,NM_005227 EFNA4,EFNA4,EFNA4 EXON Silent,Silent,Missense_L197R variant.7086 1 155041454 [T/C] NM_182690,NM_182689,NM_005227 EFNA4,EFNA4,EFNA4 EXON Silent,Silent,Nonsense_R199X exm105709 1 155041477 [T/C] NM_182690,NM_182689,NM_005227 EFNA4,EFNA4,EFNA4 EXON Missense_L158F,Silent,Silent exm105710 1 155041489 [C/G] NM_182690,NM_182689,NM_005227 EFNA4,EFNA4,EFNA4 EXON Missense_P162A,Silent,Silent exm105711 1 155041499 [G/C] NM_182690,NM_182689,NM_005227 EFNA4,EFNA4,EFNA4 EXON Missense_P165R,Synonymous_A158A,Silent rs35902694 1 155042886 [T/G] rs11264306 1 155043325 [A/C] 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 rs7365544 1 155068748 [A/C] rs7367207 1 155079477 [T/C] rs12040970 1 155095300 [T/C] exm105745 1 155103819 [T/C] NM_004428,NM_182685 EFNA1,EFNA1 EXON Missense_R33W,Missense_R33W exm1716946 1 155103842 [A/T] NM_004428,NM_182685 EFNA1,EFNA1 EXON Missense_H40Q,Missense_H40Q exm105764 1 155106227 [T/A] NM_004428,NM_182685 EFNA1,EFNA1 EXON Missense_D159V,Missense_D137V exm105766 1 155106446 [A/G] NM_004428,NM_182685 EFNA1,EFNA1 EXON Missense_R174Q,Missense_R152Q exm2273337 1 155106697 [A/G] NM_004428,NM_182685 EFNA1,EFNA1 EXON Silent,Silent exm105778 1 155108404 [T/A] NM_018845,NM_001122837,NM_001122839 SLC50A1,SLC50A1,SLC50A1 EXON Missense_F6Y,Silent,Missense_F6Y indel.7090 1 155109363 [D/I] NM_018845,NM_001122837,NM_001122839 SLC50A1,SLC50A1,SLC50A1 EXON exm105786 1 155110127 [T/C] NM_018845,NM_001122837,NM_001122839 SLC50A1,SLC50A1,SLC50A1 EXON Missense_R125W,Missense_R70W,Silent variant.7091 1 155110551 [T/C] NM_018845,NM_001122837,NM_001122839 SLC50A1,SLC50A1,SLC50A1 EXON Nonsense_R181X,Nonsense_R126X,Nonsense_R127X exm105792 1 155110700 [G/C] NM_018845,NM_001122837,NM_001122839 SLC50A1,SLC50A1,SLC50A1 EXON Missense_W203C,Missense_W148C,Missense_W149C rs4971079 1 155130391 [A/G] rs12028043 1 155132836 [A/G] exm105809 1 155145097 [T/C] NM_173852 KRTCAP2 EXON Missense_N82S exm1717035 1 155148462 [T/C] NM_001256599,NM_025058,NR_046327,NM_001256600,NR_046328,NM_001256601,NR_046329 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 EXON Missense_R119W,Missense_R142W,Silent,Missense_R129W,Silent,Missense_R129W,Silent exm105846 1 155148520 [A/G] NM_001256599,NM_025058,NR_046327,NM_001256600,NR_046328,NM_001256601,NR_046329 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 EXON Missense_R138H,Missense_R161H,Silent,Missense_R148H,Silent,Missense_R148H,Silent rs3814316 1 155149718 [A/G] NM_001256599,NM_025058,NR_046327,NM_001256600,NR_046328,NM_001256601,NR_046329 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 EXON Synonymous_T264T,Synonymous_T287T,Silent,Synonymous_T274T,Silent,Synonymous_T274T,Silent exm105860 1 155150593 [A/G] NM_001256599,NM_025058,NR_046327,NM_001256600,NR_046328,NM_001256601,NR_046329 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 EXON Missense_R319Q,Missense_R342Q,Silent,Missense_R300Q,Silent,Missense_R329Q,Silent exm105862 1 155150602 [A/G] NM_001256599,NM_025058,NR_046327,NM_001256600,NR_046328,NM_001256601,NR_046329 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 EXON Missense_R322H,Missense_R345H,Silent,Missense_R303H,Silent,Missense_R332H,Silent exm105873 1 155151048 [G/C] NM_001256599,NM_025058,NR_046327,NM_001256600,NR_046328,NM_001256601,NR_046329 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 EXON Missense_G392A,Missense_G415A,Silent,Missense_G373A,Silent,Missense_G402A,Silent rs11264341 1 155151493 [T/C] NM_001256599,NM_025058,NR_046327,NM_001256600,NR_046328,NM_001256601,NR_046329 TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46,TRIM46 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm105923 1 155158634 [G/C] NM_001204295,NM_001204287,NM_001018017,NM_001204285,NM_001044392,NM_001204288,NM_001204294,NM_001044390,NM_001204286,NM_001018016,NM_001204289,NM_001204293,NM_001204292,NM_001204291,NM_001044391,NM_001044393,NM_001204290,NM_001204297,NM_002456,NM_001204296 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Missense_A183P,Missense_A276P,Missense_A249P,Missense_A469P,Missense_A153P,Silent,Missense_A224P,Missense_A197P,Missense_A478P,Missense_A258P,Missense_A232P,Silent,Missense_A233P,Missense_A235P,Missense_A144P,Silent,Missense_A211P,Missense_A171P,Missense_A267P,Missense_A206P exm1717066 1 155159944 [T/C] NM_001204295,NM_001204287,NM_001018017,NM_001204285,NM_001044392,NM_001204288,NM_001204294,NM_001044390,NM_001204286,NM_001018016,NM_001204289,NM_001204293,NM_001204292,NM_001204291,NM_001044391,NM_001044393,NM_001204290,NM_001204297,NM_002456,NM_001204296 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Missense_Y111C,Missense_Y204C,Missense_Y177C,Missense_Y397C,Silent,Synonymous_L175L,Missense_Y152C,Missense_Y125C,Missense_Y406C,Missense_Y186C,Missense_Y160C,Silent,Missense_Y161C,Missense_Y163C,Silent,Synonymous_L114L,Missense_Y139C,Silent,Missense_Y195C,Missense_Y134C exm105931 1 155159955 [A/C] NM_001204295,NM_001204287,NM_001018017,NM_001204285,NM_001044392,NM_001204288,NM_001204294,NM_001044390,NM_001204286,NM_001018016,NM_001204289,NM_001204293,NM_001204292,NM_001204291,NM_001044391,NM_001044393,NM_001204290,NM_001204297,NM_002456,NM_001204296 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Synonymous_L107L,Synonymous_L200L,Synonymous_L173L,Synonymous_L393L,Silent,Missense_G172C,Synonymous_L148L,Synonymous_L121L,Synonymous_L402L,Synonymous_L182L,Synonymous_L156L,Silent,Synonymous_L157L,Synonymous_L159L,Silent,Missense_G111C,Synonymous_L135L,Silent,Synonymous_L191L,Synonymous_L130L exm105936 1 155160049 [T/C] NM_001204295,NM_001204287,NM_001018017,NM_001204285,NM_001044392,NM_001204288,NM_001204294,NM_001044390,NM_001204286,NM_001018016,NM_001204289,NM_001204293,NM_001204292,NM_001204291,NM_001044391,NM_001044393,NM_001204290,NM_001204297,NM_002456,NM_001204296 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Missense_S169N,Missense_S142N,Missense_S362N,Silent,Silent,Missense_S117N,Missense_S90N,Missense_S371N,Missense_S151N,Missense_S125N,Silent,Missense_S126N,Missense_S128N,Silent,Silent,Missense_S104N,Silent,Missense_S160N,Missense_S99N exm105939 1 155160270 [T/C] NM_001204295,NM_001204287,NM_001018017,NM_001204285,NM_001044392,NM_001204288,NM_001204294,NM_001044390,NM_001204286,NM_001018016,NM_001204289,NM_001204293,NM_001204292,NM_001204291,NM_001044391,NM_001044393,NM_001204290,NM_001204297,NM_002456,NM_001204296 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Missense_V144M,Missense_V117M,Missense_V337M,Silent,Missense_V126M,Missense_V92M,Silent,Missense_V346M,Missense_V126M,Missense_V100M,Missense_V135M,Missense_V101M,Missense_V103M,Silent,Silent,Missense_V79M,Silent,Missense_V135M,Silent exm105942 1 155160329 [A/C] NM_001204295,NM_001204287,NM_001018017,NM_001204285,NM_001044392,NM_001204288,NM_001204294,NM_001044390,NM_001204286,NM_001018016,NM_001204289,NM_001204293,NM_001204292,NM_001204291,NM_001044391,NM_001044393,NM_001204290,NM_001204297,NM_002456,NM_001204296 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Missense_G124V,Missense_G97V,Missense_G317V,Silent,Missense_G106V,Missense_G72V,Silent,Missense_G326V,Missense_G106V,Missense_G80V,Missense_G115V,Missense_G81V,Missense_G83V,Silent,Silent,Missense_G59V,Silent,Missense_G115V,Silent variant.7102 1 155160708 [T/C] NM_001204295,NM_001204287,NM_001018017,NM_001204285,NM_001044392,NM_001204288,NM_001204294,NM_001044390,NM_001204286,NM_001018016,NM_001204289,NM_001204293,NM_001204292,NM_001204291,NM_001044391,NM_001044393,NM_001204290,NM_001204297,NM_002456,NM_001204296 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Synonymous_Q80Q,Silent,Synonymous_Q273Q,Silent,Silent,Silent,Silent,Synonymous_Q282Q,Silent,Silent,Synonymous_Q71Q,Silent,Silent,Silent,Silent,Silent,Synonymous_Q80Q,Synonymous_Q71Q,Silent exm105955 1 155160813 [G/C] NM_001204295,NM_001204287,NM_001018017,NM_001204285,NM_001044392,NM_001204288,NM_001204294,NM_001044390,NM_001204286,NM_001018016,NM_001204289,NM_001204293,NM_001204292,NM_001204291,NM_001044391,NM_001044393,NM_001204290,NM_001204297,NM_002456,NM_001204296 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Silent,Silent,Missense_H238Q,Silent,Silent,Silent,Silent,Missense_H247Q,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm105956 1 155160941 [T/C] NM_001204295,NM_001204287,NM_001018017,NM_001204285,NM_001044392,NM_001204288,NM_001204294,NM_001044390,NM_001204286,NM_001018016,NM_001204289,NM_001204293,NM_001204292,NM_001204291,NM_001044391,NM_001044393,NM_001204290,NM_001204297,NM_002456,NM_001204296 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Silent,Silent,Silent,Missense_G196S,Silent,Silent,Silent,Silent,Missense_G205S,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm105968 1 155162050 [A/C] NM_001204295,NM_001204287,NM_001018017,NM_001204285,NM_001044392,NM_001204288,NM_001204294,NM_001044390,NM_001204286,NM_001018016,NM_001204289,NM_001204293,NM_001204292,NM_001204291,NM_001044391,NM_001044393,NM_001204290,NM_001204297,NM_002456,NM_001204296 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Missense_S37I,Missense_S37I,Missense_S28I,Missense_S28I,Missense_S37I,Missense_S37I,Missense_S28I,Missense_S28I,Missense_S37I,Missense_S37I,Missense_S37I,Missense_S28I,Missense_S37I,Missense_S37I,Missense_S28I,Missense_S28I,Silent,Missense_S37I,Missense_S28I,Missense_S37I exm-rs4072037 1 155162067 [T/C] NM_001204295,NM_001204287,NM_001018017,NM_001204285,NM_001044392,NM_001204288,NM_001204294,NM_001044390,NM_001204286,NM_001018016,NM_001204289,NM_001204293,NM_001204292,NM_001204291,NM_001044391,NM_001044393,NM_001204290,NM_001204297,NM_002456,NM_001204296 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Synonymous_T31T,Synonymous_T31T,Synonymous_T22T,Synonymous_T22T,Synonymous_T31T,Synonymous_T31T,Synonymous_T22T,Synonymous_T22T,Synonymous_T31T,Synonymous_T31T,Synonymous_T31T,Synonymous_T22T,Synonymous_T31T,Synonymous_T31T,Synonymous_T22T,Synonymous_T22T,Silent,Synonymous_T31T,Synonymous_T22T,Synonymous_T31T rs4072037 1 155162067 [T/C] NM_001204295,NM_001204287,NM_001018017,NM_001204285,NM_001044392,NM_001204288,NM_001204294,NM_001044390,NM_001204286,NM_001018016,NM_001204289,NM_001204293,NM_001204292,NM_001204291,NM_001044391,NM_001044393,NM_001204290,NM_001204297,NM_002456,NM_001204296 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Synonymous_T31T,Synonymous_T31T,Synonymous_T22T,Synonymous_T22T,Synonymous_T31T,Synonymous_T31T,Synonymous_T22T,Synonymous_T22T,Synonymous_T31T,Synonymous_T31T,Synonymous_T31T,Synonymous_T22T,Synonymous_T31T,Synonymous_T31T,Synonymous_T22T,Synonymous_T22T,Silent,Synonymous_T31T,Synonymous_T22T,Synonymous_T31T exm105972 1 155162084 [G/C] NM_001204295,NM_001204287,NM_001018017,NM_001204285,NM_001044392,NM_001204288,NM_001204294,NM_001044390,NM_001204286,NM_001018016,NM_001204289,NM_001204293,NM_001204292,NM_001204291,NM_001044391,NM_001044393,NM_001204290,NM_001204297,NM_002456,NM_001204296 MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1,MUC1 EXON Missense_P26A,Missense_P26A,Silent,Silent,Missense_P26A,Missense_P26A,Silent,Silent,Missense_P26A,Missense_P26A,Missense_P26A,Silent,Missense_P26A,Missense_P26A,Silent,Silent,Silent,Missense_P26A,Silent,Missense_P26A exm105973 1 155162102 [T/C] NM_001204295,NM_001204287,NM_001018017,NM_001204285,NM_001044392,NM_001204288,NM_001204294,NM_001044390,NM_001204286,NM_001018016,NM_001204289,NM_001204293,NM_001204292,NM_001204291,NM_001044391,NM_001044393,NM_001204290,NM_001204297,NM_002456,NM_001204296 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 variant.7106 1 155165793 [A/G] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Nonsense_Q924X,Nonsense_Q813X,Nonsense_Q933X,Silent exm105993 1 155165892 [C/G] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Missense_L891V,Missense_L780V,Missense_L900V,Silent exm106010 1 155167337 [T/C] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Missense_V797I,Missense_V686I,Missense_V806I,Silent exm106019 1 155167435 [T/C] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Missense_N764S,Missense_N653S,Missense_N773S,Silent variant.7110 1 155168053 [T/C] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 Silent,Silent,Silent,Silent variant.7111 1 155168261 [A/C] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Nonsense_Y662X,Nonsense_Y551X,Nonsense_Y671X,Silent exm1717108 1 155169837 [A/G] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Synonymous_D583D,Synonymous_D472D,Synonymous_D592D,Silent newrs147564978 1 155170349 [T/G] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Nonsense_S525X,Nonsense_S414X,Nonsense_S534X,Silent exm106060 1 155170391 [T/C] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Missense_R511Q,Missense_R400Q,Missense_R520Q,Silent exm106061 1 155170392 [A/G] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Missense_R511W,Missense_R400W,Missense_R520W,Silent exm106068 1 155170989 [T/C] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Missense_V437M,Missense_V326M,Missense_V446M,Silent exm106076 1 155171810 [T/C] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Missense_D363N,Missense_D252N,Missense_D372N,Silent exm106082 1 155172066 [A/G] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Missense_R353W,Missense_R242W,Missense_R362W,Silent exm106083 1 155172080 [T/C] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Missense_G348D,Missense_G237D,Missense_G357D,Silent exm106091 1 155172629 [T/C] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Missense_G302S,Missense_G191S,Missense_G311S,Silent exm106093 1 155172725 [T/C] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Missense_S270G,Missense_S159G,Missense_S279G,Silent variant.7117 1 155172877 [T/C] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Missense_G261S,Missense_G150S,Missense_G270S,Silent exm106126 1 155175089 [T/C] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Missense_R102Q,Silent,Missense_R102Q,Silent indel.7121 1 155175992 [I/D] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON exm106132 1 155176044 [T/C] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Missense_R78H,Missense_R78H,Missense_R78H,Silent exm106134 1 155176080 [C/G] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Missense_P66R,Missense_P66R,Missense_P66R,Silent variant.7122 1 155177584 [T/C] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 Silent,Silent,Silent,Silent exm1717146 1 155177615 [A/C] NM_001252607,NM_001252608,NM_007112,NR_045553 THBS3,THBS3,THBS3,THBS3 EXON Missense_F18C,Missense_F18C,Missense_F18C,Silent 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 var_1_155180209 1 155180210 [D/I] NM_002455,NM_198883 MTX1,MTX1 variant.7124 1 155180226 [A/G] NM_002455,NM_198883 MTX1,MTX1 Silent,Silent variant.7125 1 155180227 [A/G] NM_002455,NM_198883 MTX1,MTX1 Silent,Silent rs2049805 1 155194980 [T/C] NR_002188 GBAP1 Silent exm2268767 1 155194980 [T/C] NR_002188 GBAP1 Silent exm106204 1 155205047 [T/C] NM_001171811,NM_001005742,NM_001005741,NM_000157,NM_001171812 GBA,GBA,GBA,GBA,GBA EXON Missense_D395N,Missense_D482N,Missense_D482N,Missense_D482N,Missense_D433N exm106213 1 155205581 [T/C] NM_001171811,NM_001005742,NM_001005741,NM_000157,NM_001171812 GBA,GBA,GBA,GBA,GBA EXON Missense_E340K,Missense_E427K,Missense_E427K,Missense_E427K,Missense_E378K exm106217 1 155205634 [T/C] NM_001171811,NM_001005742,NM_001005741,NM_000157,NM_001171812 GBA,GBA,GBA,GBA,GBA EXON Missense_N322S,Missense_N409S,Missense_N409S,Missense_N409S,Missense_N360S exm106220 1 155206037 [A/G] NM_001171811,NM_001005742,NM_001005741,NM_000157,NM_001171812 GBA,GBA,GBA,GBA,GBA EXON Missense_T321M,Missense_T408M,Missense_T408M,Missense_T408M,Missense_T359M exm106249 1 155209727 [T/C] NM_001171811,NM_001005742,NM_001005741,NM_000157,NM_001171812 GBA,GBA,GBA,GBA,GBA EXON Silent,Missense_R86Q,Missense_R86Q,Missense_R86Q,Missense_R86Q exm1717216 1 155210478 [T/C] NM_001171811,NM_001005742,NM_001005741,NM_000157,NM_001171812 GBA,GBA,GBA,GBA,GBA EXON Silent,Missense_I20V,Missense_I20V,Missense_I20V,Missense_I20V rs12034326 1 155214473 [A/G] NM_001171811,NM_001005742,NM_001005741 GBA,GBA,GBA EXON Silent,Silent,Silent exm2275496 1 155217643 [T/C] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_R550H,Missense_R628H,Missense_R646H exm106267 1 155217659 [A/G] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_R545C,Missense_R623C,Missense_R641C exm106269 1 155217689 [T/C] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_G535R,Missense_G613R,Missense_G631R exm106273 1 155217724 [T/C] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_R523Q,Missense_R601Q,Missense_R619Q exm1717219 1 155217739 [T/C] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_R518Q,Missense_R596Q,Missense_R614Q exm106276 1 155217906 [A/G] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_R494C,Missense_R572C,Missense_R590C exm2231422 1 155217920 [T/C] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_R489Q,Missense_R567Q,Missense_R585Q exm106284 1 155218034 [A/C] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_R451L,Missense_R529L,Missense_R547L exm106286 1 155218067 [T/C] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_R440H,Missense_R518H,Missense_R536H exm106288 1 155218074 [A/G] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_L438F,Missense_L516F,Missense_L534F exm106290 1 155218094 [A/C] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_G431V,Missense_G509V,Missense_G527V exm106309 1 155220614 [T/C] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B Silent,Silent,Silent exm106315 1 155221353 [C/G] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_L182F,Missense_L260F,Missense_L278F exm106320 1 155221560 [T/G] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_P157Q,Missense_P235Q,Missense_P253Q exm1717234 1 155221613 [T/C] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_M139I,Missense_M217I,Missense_M235I var_1_155223422 1 155223422 [I/D] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON exm106334 1 155223469 [A/G] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_L94F,Missense_L171F,Missense_L190F exm106335 1 155223484 [T/C] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON Missense_A89T,Missense_A166T,Missense_A185T exm106347 1 155223978 [A/G] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B EXON Silent,Missense_F78S,Missense_F97S variant.7139 1 155223987 [T/G] NM_198264,NM_001267608,NM_006589 FAM189B,FAM189B,FAM189B Silent,Silent,Silent exm106362 1 155226107 [T/C] NM_052837,NM_005698 SCAMP3,SCAMP3 EXON Missense_N308S,Missense_N334S exm106372 1 155226571 [G/C] NM_052837,NM_005698 SCAMP3,SCAMP3 EXON Missense_S238C,Missense_S264C variant.7144 1 155228612 [T/C] NM_052837,NM_005698 SCAMP3,SCAMP3 Silent,Silent indel.7145 1 155228718 [D/I] NM_052837,NM_005698 SCAMP3,SCAMP3 EXON variant.7146 1 155228747 [T/C] NM_052837,NM_005698 SCAMP3,SCAMP3 Silent,Silent exm-rs1142287 1 155230131 [T/C] NM_052837,NM_005698 SCAMP3,SCAMP3 EXON Synonymous_G100G,Synonymous_G126G exm106398 1 155230432 [A/G] NM_052837,NM_005698 SCAMP3,SCAMP3 EXON Missense_P29S,Missense_P55S exm106406 1 155231510 [A/G] NM_052837,NM_005698 SCAMP3,SCAMP3 EXON Silent,Nonsense_Q28X exm106411 1 155231927 [T/C] NM_052837,NM_005698 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 rs11264352 1 155255837 [T/C] NM_020897,NR_073074 HCN3,HCN3 Silent,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_000298,NM_181871 PKLR,PKLR EXON Missense_R569Q,Missense_R538Q exm106599 1 155261551 [T/A] NM_000298,NM_181871 PKLR,PKLR EXON Missense_E538D,Missense_E507D exm106601 1 155261613 [A/G] NM_000298,NM_181871 PKLR,PKLR EXON Missense_R518C,Missense_R487C exm106603 1 155261636 [T/C] NM_000298,NM_181871 PKLR,PKLR EXON Missense_R510Q,Missense_R479Q exm106605 1 155261649 [T/C] NM_000298,NM_181871 PKLR,PKLR EXON Missense_V506I,Missense_V475I exm106607 1 155261709 [A/G] NM_000298,NM_181871 PKLR,PKLR EXON Missense_R486W,Missense_R455W exm106609 1 155262969 [A/G] NM_000298,NM_181871 PKLR,PKLR EXON Missense_R479C,Missense_R448C exm1717354 1 155263025 [A/G] NM_000298,NM_181871 PKLR,PKLR EXON Missense_V460A,Missense_V429A exm106625 1 155264067 [A/G] NM_000298,NM_181871 PKLR,PKLR EXON Missense_R359C,Missense_R328C exm1717363 1 155264149 [A/G] NM_000298,NM_181871 PKLR,PKLR EXON Synonymous_D331D,Synonymous_D300D exm106628 1 155264320 [T/G] NM_000298,NM_181871 PKLR,PKLR EXON Missense_H306Q,Missense_H275Q exm2273698 1 155264331 [G/C] NM_000298,NM_181871 PKLR,PKLR EXON Missense_P303A,Missense_P272A exm106631 1 155264409 [T/C] NM_000298,NM_181871 PKLR,PKLR EXON Missense_E277K,Missense_E246K exm106633 1 155264424 [C/G] NM_000298,NM_181871 PKLR,PKLR EXON Missense_L272V,Missense_L241V exm1717366 1 155264433 [A/C] NM_000298,NM_181871 PKLR,PKLR EXON Missense_V269F,Missense_V238F exm106651 1 155265228 [T/C] NM_000298,NM_181871 PKLR,PKLR EXON Synonymous_G169G,Synonymous_G138G exm106652 1 155265230 [A/C] NM_000298,NM_181871 PKLR,PKLR EXON Missense_G169W,Missense_G138W exm106665 1 155269955 [A/G] NM_000298,NM_181871 PKLR,PKLR EXON Missense_L73F,Missense_L42F var_1_155271077 1 155271077 [T/C] NM_000298 PKLR Silent exm106672 1 155271095 [A/G] NM_000298 PKLR EXON Missense_A31V exm106682 1 155279627 [T/C] NM_001242825,NM_001135822,NM_001242824,NM_002004,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Silent,Silent,Silent,Missense_P16L,Missense_P16L exm106685 1 155279722 [T/C] NM_001242825,NM_001135822,NM_001242824,NM_002004,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Silent,Silent,Silent,Missense_R48C,Missense_R48C var_1_155279854 1 155279854 [A/G] NM_001242825,NM_001135822,NM_001242824,NM_002004,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Silent,Silent,Silent,Missense_R66K,Missense_R66K exm106694 1 155282065 [T/C] NM_001242825,NM_001135822,NM_001242824,NM_002004,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Silent,Missense_I54T,Missense_I54T,Missense_I120T,Missense_I120T rs11264359 1 155282829 [A/G] NM_001242825,NM_001135822,NM_001242824,NM_002004,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS Silent,Silent,Silent,Silent,Silent exm1717397 1 155288061 [A/C] NM_001242825,NM_001135822,NM_001242824,NM_002004,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Missense_N50K,Missense_N155K,Missense_N155K,Missense_N221K,Missense_N221K exm106707 1 155289424 [A/C] NM_001242825,NM_001135822,NM_001242824,NM_002004,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Missense_E119A,Missense_E224A,Missense_E224A,Missense_E290A,Missense_E290A exm1717405 1 155289607 [C/G] NM_001242825,NM_001135822,NM_001242824,NM_002004,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Missense_G145A,Missense_G250A,Missense_G250A,Missense_G316A,Missense_G316A exm106714 1 155290231 [T/C] NM_001242825,NM_001135822,NM_001242824,NM_002004,NM_001135821 FDPS,FDPS,FDPS,FDPS,FDPS EXON Missense_V193A,Missense_V298A,Missense_V298A,Missense_V364A,Missense_V364A exm106716 1 155290261 [T/A] NM_001242825,NM_001135822,NM_001242824,NM_002004,NM_001135821,NM_001039517 FDPS,FDPS,FDPS,FDPS,FDPS,RUSC1-AS1 EXON Missense_L203Q,Missense_L308Q,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 variant.7191 1 155292230 [T/C] NM_001039517,NM_001105203,NM_001105204 RUSC1-AS1,RUSC1,RUSC1 EXON Silent,Synonymous_A222A,Synonymous_A222A 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 variant.7199 1 155340563 [T/C] NM_018489 ASH1L Silent exm106962 1 155340670 [T/C] NM_018489 ASH1L EXON Missense_R2146Q indel.7200 1 155349829 [D/I] NM_018489 ASH1L 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 rs11264371 1 155412037 [T/C] NM_018489 ASH1L Silent 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 rs10158433 1 155478686 [T/C] NM_018489 ASH1L Silent exm107147 1 155490964 [A/G] NM_018489 ASH1L EXON Missense_I116T exm107155 1 155491157 [A/G] NM_018489 ASH1L EXON Missense_R52W rs12746592 1 155505967 [A/G] NM_018489 ASH1L Silent exm2259814 1 155508882 [A/G] NM_018489 ASH1L Silent rs1556488 1 155540660 [T/G] indel.7201 1 155581971 [I/D] NR_046293,NR_046294,NM_018116,NR_046292,NM_001256532,NR_046295,NM_001256533,NR_024117 MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO2P exm107191 1 155582228 [A/G] NR_046293,NR_046294,NM_018116,NR_046292,NM_001256532,NR_046295,NM_001256533,NR_024117 MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO2P EXON Silent,Silent,Missense_Y278C,Silent,Missense_Y278C,Silent,Missense_Y278C,Silent exm107192 1 155582257 [A/G] NR_046293,NR_046294,NM_018116,NR_046292,NM_001256532,NR_046295,NM_001256533,NR_024117 MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO2P EXON Silent,Silent,Missense_V288M,Silent,Missense_V288M,Silent,Missense_V288M,Silent exm107200 1 155582326 [A/G] NR_046293,NR_046294,NM_018116,NR_046292,NM_001256532,NR_046295,NM_001256533,NR_024117 MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO2P EXON Silent,Silent,Missense_E311K,Silent,Missense_E311K,Silent,Missense_E311K,Silent exm107211 1 155583002 [A/G] NR_046293,NR_046294,NM_018116,NR_046292,NM_001256532,NR_046295,NM_001256533,NR_024117 MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO1,MSTO2P EXON Silent,Silent,Missense_I421V,Silent,Missense_I421V,Silent,Missense_I421V,Silent rs2175391 1 155625602 [T/G] rs601103 1 155628219 [A/G] indel.7204 1 155629583 [I/D] NM_001198905,NM_001198899,NM_139119,NM_001198900,NM_001198906,NM_001198903,NM_001198904,NM_001198901,NM_139121,NM_139118,NM_001198902,NM_018253 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON exm107251 1 155629930 [T/C] NM_001198905,NM_001198899,NM_139119,NM_001198900,NM_001198906,NM_001198903,NM_001198904,NM_001198901,NM_139121,NM_139118,NM_001198902,NM_018253 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Missense_A571T,Missense_A580T,Missense_A591T,Missense_A580T,Silent,Missense_A729T,Missense_A709T,Missense_A591T,Missense_A525T,Missense_A637T,Missense_A591T,Missense_A580T exm107288 1 155630509 [A/G] NM_001198905,NM_001198899,NM_139119,NM_001198900,NM_001198906,NM_001198903,NM_001198904,NM_001198901,NM_139121,NM_139118,NM_001198902,NM_018253 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Missense_R378C,Missense_R387C,Missense_R398C,Missense_R387C,Silent,Missense_R536C,Missense_R516C,Missense_R398C,Missense_R332C,Missense_R444C,Missense_R398C,Missense_R387C rs3738590 1 155630752 [A/G] NM_001198905,NM_001198899,NM_139119,NM_001198900,NM_001198906,NM_001198903,NM_001198904,NM_001198901,NM_139121,NM_139118,NM_001198902,NM_018253 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm107314 1 155640115 [T/C] NM_001198905,NM_001198899,NM_139119,NM_001198900,NM_001198906,NM_001198903,NM_001198904,NM_001198901,NM_139121,NM_139118,NM_001198902,NM_018253 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Missense_D242N,Missense_D231N,Missense_D242N,Missense_D231N,Missense_D308N,Missense_D380N,Missense_D380N,Missense_D242N,Missense_D176N,Missense_D308N,Missense_D242N,Missense_D231N rs617232 1 155643147 [A/G] NM_001198905,NM_001198899,NM_139119,NM_001198900,NM_001198906,NM_001198903,NM_001198904,NM_001198901,NM_139121,NM_139118,NM_001198902,NM_018253 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm107333 1 155649220 [T/A] NM_001198905,NM_001198899,NM_139119,NM_001198900,NM_001198906,NM_001198903,NM_001198904,NM_001198901,NM_139121,NM_139118,NM_001198902,NM_018253 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Missense_F35L,Missense_F24L,Missense_F35L,Missense_F24L,Missense_F101L,Missense_F173L,Missense_F173L,Missense_F35L,Silent,Missense_F101L,Missense_F35L,Missense_F24L exm107334 1 155649223 [C/G] NM_001198905,NM_001198899,NM_139119,NM_001198900,NM_001198906,NM_001198903,NM_001198904,NM_001198901,NM_139121,NM_139118,NM_001198902,NM_018253 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Missense_N34K,Missense_N23K,Missense_N34K,Missense_N23K,Missense_N100K,Missense_N172K,Missense_N172K,Missense_N34K,Silent,Missense_N100K,Missense_N34K,Missense_N23K exm107337 1 155650207 [A/C] NM_001198905,NM_139119,NM_001198900,NM_001198906,NM_001198903,NM_001198904,NM_001198901,NM_139121,NM_139118,NM_001198902,NM_018253 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Synonymous_T7T,Synonymous_T7T,Silent,Synonymous_T73T,Synonymous_T145T,Synonymous_T145T,Synonymous_T7T,Silent,Synonymous_T73T,Synonymous_T7T,Silent exm1717783 1 155658015 [A/G] NM_001198905,NM_139119,NM_001198900,NM_001198906,NM_001198903,NM_001198904,NM_001198901,NM_139121,NM_139118,NM_001198902,NM_018253 YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Silent,Silent,Silent,Silent,Missense_L81F,Missense_L81F,Silent,Silent,Silent,Silent,Silent rs512551 1 155658672 [A/G] NM_001198906,NM_001198901,NM_139121,NM_139118 YY1AP1,YY1AP1,YY1AP1,YY1AP1 Silent,Silent,Silent,Silent exm107362 1 155658730 [T/C] NM_001198906,NM_001198901,NM_139121,NM_139118 YY1AP1,YY1AP1,YY1AP1,YY1AP1 EXON Missense_N13S,Silent,Silent,Missense_N13S exm107368 1 155679584 [A/G] NM_001199849,NM_001199851,NM_001199850,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_G5E,Missense_G5E,Missense_G5E,Missense_G5E,Missense_G5E rs348200 1 155683848 [A/G] NM_001199849,NM_001199851,NM_001199850,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 Silent,Silent,Silent,Silent,Silent exm107370 1 155686836 [T/C] NM_001199849,NM_001199851,NM_001199850,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_001199849,NM_001199851,NM_001199850,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_001199849,NM_001199851,NM_001199850,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_Q39R,Silent,Missense_Q39R,Missense_Q39R,Missense_Q39R newrs148684040 1 155686919 [A/G] NM_001199849,NM_001199851,NM_001199850,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Synonymous_P56P,Silent,Synonymous_P56P,Synonymous_P56P,Synonymous_P56P rs621181 1 155687232 [T/C] NM_001199849,NM_001199851,NM_001199850,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 Silent,Silent,Silent,Silent,Silent exm2275497 1 155691351 [A/C] NM_001199849,NM_001199851,NM_001199850,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_S71Y,Missense_S30Y,Silent,Missense_S71Y,Missense_S71Y exm107406 1 155699005 [A/G] NM_001199849,NM_001199851,NM_001199850,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_T231A,Missense_T190A,Missense_T197A,Missense_T231A,Missense_T231A exm107409 1 155699030 [G/C] NM_001199849,NM_001199851,NM_001199850,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_A239G,Missense_A198G,Missense_A205G,Missense_A239G,Missense_A239G exm107410 1 155699032 [T/G] NM_001199849,NM_001199851,NM_001199850,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_V240F,Missense_V199F,Missense_V206F,Missense_V240F,Missense_V240F exm107428 1 155706817 [G/C] NM_001199849,NM_001199851,NM_001199850,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 EXON Missense_Q358H,Missense_Q317H,Missense_Q324H,Missense_Q358H,Missense_Q358H indel.7222 1 155706855 [I/D] NM_001199849,NM_001199851,NM_001199850,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 variant.7223 1 155706856 [T/C] NM_001199849,NM_001199851,NM_001199850,NM_004632,NM_033657 DAP3,DAP3,DAP3,DAP3,DAP3 Silent,Silent,Silent,Silent,Silent rs10908481 1 155713650 [T/G] 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 rs11803678 1 155725531 [A/C] NM_001037533 GON4L Silent rs16837037 1 155726290 [T/C] NM_001037533 GON4L Silent variant.7225 1 155726748 [T/C] NM_001037533 GON4L Silent variant.7226 1 155730230 [T/C] NM_001037533 GON4L Silent 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 variant.7228 1 155755125 [A/C] NM_001037533,NM_032292 GON4L,GON4L EXON Synonymous_T596T,Synonymous_T596T exm107634 1 155774763 [A/G] NM_001037533,NM_032292 GON4L,GON4L EXON Missense_M541T,Missense_M541T variant.7230 1 155774905 [A/G] NM_001037533,NM_032292 GON4L,GON4L EXON Nonsense_R494X,Nonsense_R494X 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 rs822490 1 155822971 [T/C] NM_001037533,NM_032292 GON4L,GON4L Silent,Silent 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 indel.7231 1 155823239 [I/D] NM_001037533,NM_032292 GON4L,GON4L EXON exm107688 1 155823496 [T/C] NM_001037533,NM_032292 GON4L,GON4L EXON Missense_V26I,Missense_V26I indel.7232 1 155823548 [D/I] NM_001037533,NM_032292 GON4L,GON4L EXON rs1627630 1 155828911 [T/C] 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 variant.7233 1 155838037 [T/C] NM_152280 SYT11 EXON Nonsense_R106X exm107719 1 155838284 [A/G] NM_152280 SYT11 EXON Missense_D188G rs822508 1 155850558 [T/C] NM_152280 SYT11 Silent rs1749405 1 155860091 [A/G] exm-rs2282301 1 155868625 [A/G] NM_001256821,NM_001256820,NM_006912 RIT1,RIT1,RIT1 EXON Silent,Silent,Silent indel.7234 1 155870192 [I/D] NM_001256821,NM_001256820,NM_006912 RIT1,RIT1,RIT1 EXON rs1749409 1 155870416 [A/G] NM_001256821,NM_001256820,NM_006912 RIT1,RIT1,RIT1 Silent,Silent,Silent indel.7235 1 155885737 [D/I] NM_014949 KIAA0907 EXON rs605025 1 155887772 [T/C] NM_014949 KIAA0907 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 rs2016251 1 155914988 [T/C] 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 rs928596 1 155947875 [A/G] NM_001162384,NM_004723,NM_001162383 ARHGEF2,ARHGEF2,ARHGEF2 EXON Silent,Silent,Silent rs915178 1 155978725 [T/C] rs17381047 1 155983648 [A/G] NM_003145 SSR2 Silent exm108045 1 155984760 [T/G] NM_003145 SSR2 EXON Missense_P119T indel.7247 1 155984779 [I/D] NM_003145 SSR2 EXON 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_014017,NM_001145264 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 variant.7255 1 156039460 [A/G] NM_020387 RAB25 Silent indel.7256 1 156039533 [D/I] NM_020387 RAB25 EXON exm108164 1 156039980 [G/C] NM_020387 RAB25 EXON Missense_Q182E exm108166 1 156039993 [A/G] NM_020387 RAB25 EXON Missense_R186Q rs10047112 1 156045662 [A/G] NM_001093725 MEX3A EXON Silent rs3738593 1 156045973 [T/C] NM_001093725 MEX3A EXON Silent rs9919256 1 156062532 [A/G] NR_047544 LMNA Silent rs693671 1 156093195 [T/C] NR_047544,NM_005572,NM_170707,NM_170708 LMNA,LMNA,LMNA,LMNA Silent,Silent,Silent,Silent rs2485676 1 156094872 [A/G] NR_047544,NM_005572,NM_170707,NM_170708 LMNA,LMNA,LMNA,LMNA Silent,Silent,Silent,Silent exm108221 1 156100408 [T/C] NR_047544,NM_005572,NM_170707,NM_170708,NR_047545,NM_001257374 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Silent,Synonymous_R119R,Synonymous_R119R,Synonymous_R119R,Silent,Synonymous_C7C newrs41313880 1 156100408 [T/C] NR_047544,NM_005572,NM_170707,NM_170708,NR_047545,NM_001257374 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Silent,Synonymous_R119R,Synonymous_R119R,Synonymous_R119R,Silent,Synonymous_C7C rs577492 1 156100739 [T/C] NR_047544,NM_005572,NM_170707,NM_170708,NR_047545,NM_001257374 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA Silent,Silent,Silent,Silent,Silent,Silent exm108252 1 156106049 [A/G] NR_047544,NM_005572,NM_170707,NM_170708,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_170707,NM_170708,NR_047545,NM_001257374 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Silent,Synonymous_D446D,Synonymous_D446D,Synonymous_D446D,Silent,Synonymous_D334D newrs11575937 1 156106776 [A/G] NR_047544,NM_005572,NM_170707,NM_170708,NR_047545,NM_001257374 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Silent,Missense_R482Q,Missense_R482Q,Missense_R482Q,Silent,Missense_R370Q rs553016 1 156106863 [T/C] NR_047544,NM_005572,NM_170707,NM_170708,NR_047545,NM_001257374 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA Silent,Silent,Silent,Silent,Silent,Silent exm108274 1 156106982 [A/G] NR_047544,NM_005572,NM_170707,NM_170708,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_170707,NM_170708,NR_047545,NM_001257374 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Silent,Missense_R545H,Missense_R545H,Silent,Silent,Missense_R433H exm108283 1 156107534 [T/C] NR_047544,NM_005572,NM_170707,NM_170708,NR_047545,NM_001257374 LMNA,LMNA,LMNA,LMNA,LMNA,LMNA EXON Silent,Synonymous_H566H,Synonymous_H566H,Silent,Silent,Synonymous_H454H exm108293 1 156108384 [A/G] NM_170707,NM_170708,NM_001257374 LMNA,LMNA,LMNA EXON Missense_G602S,Missense_G572S,Missense_G490S exm108300 1 156108492 [A/G] NM_170707,NM_170708,NM_001257374 LMNA,LMNA,LMNA EXON Missense_G638R,Missense_G608R,Missense_G526R exm108301 1 156108510 [T/C] NM_170707,NM_170708,NM_001257374 LMNA,LMNA,LMNA EXON Missense_R644C,Missense_R614C,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 indel.7289 1 156132853 [I/D] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A EXON rs7555253 1 156133038 [T/C] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A Silent,Silent,Silent,Silent rs11264452 1 156140932 [T/G] NM_001193301,NM_022367,NM_001193300,NM_001193302 SEMA4A,SEMA4A,SEMA4A,SEMA4A Silent,Silent,Silent,Silent 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 rs3738581 1 156147558 [T/C] rs2072499 1 156169610 [A/G] NM_014655 SLC25A44 Silent variant.7292 1 156169625 [T/G] NM_014655 SLC25A44 Silent exm108422 1 156169862 [A/G] NM_014655 SLC25A44 EXON Missense_R75Q variant.7294 1 156170188 [T/C] NM_014655 SLC25A44 EXON Nonsense_R184X exm108434 1 156170251 [T/C] NM_014655 SLC25A44 EXON Missense_H205Y rs2241109 1 156173082 [T/C] NM_014655 SLC25A44 Silent exm108450 1 156182816 [A/G] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_007221,NM_001199654 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1 EXON Missense_A4T,Missense_A4T,Missense_A4T,Missense_A4T,Missense_A4T,Missense_A4T,Missense_A4T rs1060604 1 156184268 [T/C] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_007221,NM_001199654 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm108468 1 156202173 [A/G] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_007221,NM_001199654 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1 EXON Missense_Q75R,Missense_Q75R,Missense_Q75R,Silent,Missense_Q75R,Missense_Q75R,Silent rs2251847 1 156204047 [A/G] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_007221,NM_001199654 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm108480 1 156206121 [A/G] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_007221,NM_001199654 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1 EXON Missense_M137I,Silent,Silent,Missense_M68I,Silent,Missense_M137I,Missense_M139I exm108481 1 156206143 [T/C] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_007221,NM_001199654 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1 EXON Missense_R145W,Silent,Synonymous_N124N,Missense_R76W,Synonymous_N124N,Missense_R145W,Missense_R147W exm108483 1 156206155 [T/C] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_007221,NM_001199654 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1 EXON Missense_R149W,Silent,Synonymous_C128C,Missense_R80W,Synonymous_C128C,Missense_R149W,Missense_R151W exm108484 1 156206156 [A/G] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_007221,NM_001199654 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1 EXON Missense_R149Q,Silent,Missense_G129S,Missense_R80Q,Missense_G129S,Missense_R149Q,Missense_R151Q exm108485 1 156206158 [T/C] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_007221,NM_001199654 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1 EXON Missense_R150C,Silent,Synonymous_G129G,Missense_R81C,Synonymous_G129G,Missense_R150C,Missense_R152C exm108486 1 156206181 [T/C] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_007221,NM_001199654 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1 EXON Synonymous_A157A,Silent,Missense_P137L,Synonymous_A88A,Missense_P137L,Synonymous_A157A,Synonymous_A159A exm108490 1 156206205 [T/C] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_007221,NM_001199654 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1 EXON Synonymous_A165A,Silent,Missense_P145L,Synonymous_A96A,Missense_P145L,Synonymous_A165A,Synonymous_A167A exm108494 1 156206248 [A/G] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_001199653,NM_007221,NM_001199654 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1,PMF1,PMF1 EXON Missense_V180I,Silent,Synonymous_R159R,Missense_V111I,Synonymous_R159R,Missense_V180I,Missense_V182I exm108505 1 156212068 [T/C] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Silent,Silent,Silent,Silent,Missense_C16R exm108509 1 156212360 [T/C] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Missense_V194A,Missense_C129R,Missense_C174R,Missense_V125A,Synonymous_G27G exm1718486 1 156212564 [A/G] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Synonymous_P205P,Missense_Q140R,Missense_Q185R,Synonymous_P136P,Missense_K39E exm1718487 1 156212567 [A/C] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Missense_S206R,Missense_A141E,Missense_A186E,Missense_S137R,Missense_Q40K exm1718488 1 156212578 [T/C] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Missense_A210V,Nonsense_R145X,Nonsense_R190X,Missense_A141V,Synonymous_S43S exm108518 1 156212872 [A/T] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Silent,Missense_X176R,Missense_X221R,Silent,Nonsense_C74X exm108520 1 156212894 [A/G] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Silent,Silent,Silent,Silent,Missense_E82K exm108525 1 156212931 [A/G] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Silent,Silent,Silent,Silent,Missense_R94Q exm108526 1 156212933 [T/C] NM_001199662,NM_001199663,NM_001199661,NM_001199664,NM_199173 PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,PMF1-BGLAP,BGLAP EXON Silent,Silent,Silent,Silent,Missense_R95C exm2273699 1 156213762 [A/C] NM_001272107,NM_001272104,NM_198406,NM_001272110,NM_001272109,NM_001272105,NM_001272112,NM_001272111,NM_001272113,NM_001272108,NM_024897,NR_073610,NM_001272106 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Silent,Silent,Silent,Missense_G176W,Missense_G176W,Silent,Missense_G176W,Missense_G176W,Missense_G176W,Silent,Missense_G316W,Silent,Missense_G248W exm108548 1 156214492 [T/C] NM_001272107,NM_001272104,NM_198406,NM_001272110,NM_001272109,NM_001272105,NM_001272112,NM_001272111,NM_001272113,NM_001272108,NM_024897,NR_073610,NM_001272106 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R168G,Silent,Missense_R100G exm108554 1 156214553 [A/G] NM_001272107,NM_001272104,NM_198406,NM_001272110,NM_001272109,NM_001272105,NM_001272112,NM_001272111,NM_001272113,NM_001272108,NM_024897,NR_073610,NM_001272106 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Synonymous_I147I,Synonymous_I253I,Synonymous_I253I,Missense_S31L,Missense_S31L,Synonymous_I250I,Missense_S31L,Missense_S31L,Missense_S31L,Synonymous_I142I,Synonymous_I147I,Silent,Synonymous_I79I exm108563 1 156214641 [A/C] NM_001272107,NM_001272104,NM_198406,NM_001272110,NM_001272109,NM_001272105,NM_001272112,NM_001272111,NM_001272113,NM_001272108,NM_024897,NR_073610,NM_001272106 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Missense_G118V,Missense_G224V,Missense_G224V,Missense_A2S,Missense_A2S,Missense_G221V,Missense_A2S,Missense_A2S,Missense_A2S,Missense_G113V,Missense_G118V,Silent,Silent exm108566 1 156214675 [T/C] NM_001272107,NM_001272104,NM_198406,NM_001272110,NM_001272109,NM_001272105,NM_001272112,NM_001272111,NM_001272113,NM_001272108,NM_024897,NR_073610,NM_001272106 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Missense_G107S,Missense_G213S,Missense_G213S,Silent,Silent,Missense_G210S,Silent,Silent,Silent,Missense_G102S,Missense_G107S,Silent,Silent exm108576 1 156215431 [A/G] NM_001272107,NM_001272104,NM_198406,NM_001272110,NM_001272109,NM_001272105,NM_001272112,NM_001272111,NM_001272113,NM_001272108,NM_024897,NR_073610,NM_001272106 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Missense_A30V,Missense_A136V,Missense_A136V,Silent,Silent,Missense_A133V,Silent,Silent,Silent,Silent,Missense_A30V,Silent,Missense_P3S exm108590 1 156216005 [A/G] NM_001272107,NM_001272104,NM_198406,NM_001272110,NM_001272109,NM_001272105,NM_001272112,NM_001272111,NM_001272113,NM_001272108,NM_024897,NR_073610,NM_001272106 PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6,PAQR6 EXON Silent,Missense_R30C,Missense_R30C,Silent,Silent,Missense_R27C,Silent,Silent,Silent,Missense_R30C,Silent,Silent,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 variant.7317 1 156223296 [A/G] NM_015327 SMG5 EXON Nonsense_Q816X exm108627 1 156228816 [A/C] NM_015327 SMG5 EXON Missense_A808S exm108637 1 156230304 [C/G] NM_015327 SMG5 EXON Missense_R741G rs933489 1 156235120 [T/C] NM_015327 SMG5 Silent 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 rs2277872 1 156246728 [T/G] NM_015327 SMG5 Silent 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 rs2248273 1 156247907 [T/C] NM_015327 SMG5 Silent 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 variant.7324 1 156256137 [T/C] NR_026678,NM_032323 TMEM79,TMEM79 EXON Silent,Nonsense_R282X 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_001256604,NM_001256609,NM_144580,NM_001256608,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_M335T,Missense_M303T,Missense_M384T,Synonymous_H298H,Missense_M298T exm108835 1 156262945 [C/G] NM_001256604,NM_001256609,NM_144580,NM_001256608,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_L322V,Missense_L290V,Missense_L371V,Missense_P285R,Missense_L285V exm108846 1 156263343 [A/G] NM_001256604,NM_001256609,NM_144580,NM_001256608,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Silent,Missense_L194F,Missense_L275F,Silent,Missense_L189F exm2231464 1 156263837 [T/C] NM_001256604,NM_001256609,NM_144580,NM_001256608,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_D257G,Missense_D176G,Missense_D257G,Missense_D257G,Missense_D171G exm108859 1 156263940 [T/C] NM_001256604,NM_001256609,NM_144580,NM_001256608,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_I223V,Missense_I142V,Missense_I223V,Missense_I223V,Missense_I137V exm108861 1 156264000 [A/G] NM_001256604,NM_001256609,NM_144580,NM_001256608,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_P203S,Missense_P122S,Missense_P203S,Missense_P203S,Missense_P117S exm2231466 1 156264002 [T/C] NM_001256604,NM_001256609,NM_144580,NM_001256608,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_R202Q,Missense_R121Q,Missense_R202Q,Missense_R202Q,Missense_R116Q exm108862 1 156264003 [A/G] NM_001256604,NM_001256609,NM_144580,NM_001256608,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Nonsense_R202X,Nonsense_R121X,Nonsense_R202X,Nonsense_R202X,Nonsense_R116X exm108864 1 156264175 [T/C] NM_001256604,NM_001256609,NM_144580,NM_001256608,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_N187S,Missense_N106S,Missense_N187S,Missense_N187S,Missense_N101S variant.7336 1 156264285 [T/G] NM_001256604,NM_001256609,NM_144580,NM_001256608,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Nonsense_Y150X,Nonsense_Y69X,Nonsense_Y150X,Nonsense_Y150X,Nonsense_Y64X exm108871 1 156264339 [T/G] NM_001256604,NM_001256609,NM_144580,NM_001256608,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_S132R,Missense_S51R,Missense_S132R,Missense_S132R,Missense_S46R exm108875 1 156264648 [T/C] NM_001256604,NM_001256609,NM_144580,NM_001256608,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_V94I,Missense_V13I,Missense_V94I,Missense_V94I,Silent exm108881 1 156264690 [C/G] NM_001256604,NM_001256609,NM_144580,NM_001256608,NM_001256605 C1orf85,C1orf85,C1orf85,C1orf85,C1orf85 EXON Missense_V80L,Silent,Missense_V80L,Missense_V80L,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 rs7522860 1 156275281 [A/G] exm1718670 1 156280881 [A/C] NR_036565,NM_001008800,NM_005998,NR_036564 CCT3,CCT3,CCT3,CCT3 EXON Silent,Missense_A383S,Missense_A421S,Silent exm108936 1 156280971 [A/G] NR_036565,NM_001008800,NM_005998,NR_036564 CCT3,CCT3,CCT3,CCT3 EXON Silent,Missense_L353F,Missense_L391F,Silent exm1718679 1 156287027 [A/G] NR_036565,NM_001008800,NM_005998,NR_036564 CCT3,CCT3,CCT3,CCT3 EXON Silent,Missense_H264Y,Missense_H302Y,Silent exm108959 1 156290656 [T/C] NR_036565,NM_001008800,NM_005998,NR_036564 CCT3,CCT3,CCT3,CCT3 EXON Silent,Missense_I157V,Missense_I195V,Silent rs12141236 1 156302575 [A/C] NR_036565,NM_001008800,NM_005998,NR_036564 CCT3,CCT3,CCT3,CCT3 Silent,Silent,Silent,Silent newrs142838408 1 156303414 [T/C] NR_036565,NM_001008800,NM_005998,NR_036564 CCT3,CCT3,CCT3,CCT3 EXON Silent,Synonymous_A38A,Synonymous_A76A,Silent exm108984 1 156305641 [A/G] NR_036565,NM_001008800,NM_005998,NR_036564 CCT3,CCT3,CCT3,CCT3 EXON Silent,Missense_S24P,Missense_S24P,Silent 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 newrs150769956 1 156316558 [A/G] NM_144627 TSACC Silent exm1718722 1 156316594 [G/C] NM_144627 TSACC EXON Missense_E67Q exm109013 1 156316679 [T/C] NM_144627 TSACC EXON Missense_T95I rs2764407 1 156333831 [A/G] rs3795731 1 156338968 [T/C] exm109020 1 156339047 [G/C] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Silent,Silent,Silent,Missense_G3R exm109021 1 156339082 [T/G] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Silent,Silent,Silent,Missense_Q14H exm109022 1 156339083 [T/C] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Silent,Silent,Silent,Missense_L15F exm109026 1 156339147 [A/G] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Silent,Silent,Silent,Missense_Y36C rs7525133 1 156341494 [A/G] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG Silent,Silent,Silent,Silent rs4641304 1 156342917 [A/G] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG Silent,Silent,Silent,Silent exm109031 1 156347121 [A/G] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Missense_V43M,Missense_V4M,Silent,Missense_V73M exm109032 1 156347131 [A/G] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Missense_G46D,Missense_G7D,Silent,Missense_G76D rs2245623 1 156347131 [A/G] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Missense_G46D,Missense_G7D,Silent,Missense_G76D exm109033 1 156347147 [C/G] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Missense_F51L,Missense_F12L,Silent,Missense_F81L exm109035 1 156347160 [A/G] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Missense_G56S,Missense_G17S,Silent,Missense_G86S exm109036 1 156347238 [T/C] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Missense_H82Y,Missense_H43Y,Silent,Missense_H112Y exm109046 1 156347833 [A/G] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Missense_V113I,Missense_V74I,Silent,Missense_V143I exm109047 1 156347834 [T/A] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Missense_V113D,Missense_V74D,Silent,Missense_V143D exm109060 1 156348148 [T/C] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Missense_R181C,Missense_R142C,Silent,Missense_R211C exm109064 1 156351213 [T/C] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Missense_T220M,Missense_T181M,Silent,Missense_T250M exm109066 1 156351613 [G/C] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Missense_A256G,Missense_A217G,Silent,Missense_A286G exm109069 1 156351699 [A/G] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Missense_G285R,Missense_G246R,Silent,Missense_G315R exm109070 1 156351733 [T/C] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Missense_T296M,Missense_T257M,Silent,Missense_T326M newrs140066954 1 156351734 [A/G] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Synonymous_T296T,Synonymous_T257T,Silent,Synonymous_T326T rs872120 1 156352396 [T/C] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG Silent,Silent,Silent,Silent exm109089 1 156352648 [C/G] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG EXON Missense_G378R,Missense_G339R,Silent,Missense_G408R rs867921 1 156352974 [T/C] NM_001256396,NM_001256395,NR_046115,NM_020407 RHBG,RHBG,RHBG,RHBG Silent,Silent,Silent,Silent rs6686886 1 156356480 [A/G] rs7551218 1 156364720 [A/G] rs3431 1 156374256 [T/C] NM_006365 C1orf61 EXON Silent exm109116 1 156377693 [T/G] NM_006365 C1orf61 EXON Nonsense_C82X exm109117 1 156377704 [A/G] NM_006365 C1orf61 EXON Missense_R79W rs7551781 1 156378425 [T/C] NM_006365 C1orf61 Silent rs2296373 1 156386787 [T/C] NM_006365 C1orf61 Silent rs16837408 1 156425048 [T/C] rs750439 1 156430749 [T/C] exm109130 1 156437816 [A/G] NM_005920,NM_001271629 MEF2D,MEF2D EXON Missense_S508L,Missense_S501L exm109139 1 156437912 [A/C] NM_005920,NM_001271629 MEF2D,MEF2D EXON Missense_G476V,Missense_G469V exm109140 1 156437916 [T/C] NM_005920,NM_001271629 MEF2D,MEF2D EXON Missense_G475R,Missense_G468R rs1925950 1 156450740 [A/G] NM_005920,NM_001271629 MEF2D,MEF2D EXON Synonymous_N94N,Synonymous_N94N rs3790455 1 156456301 [T/C] NM_005920,NM_001271629 MEF2D,MEF2D Silent,Silent rs10159180 1 156480324 [T/C] rs6674079 1 156486061 [A/G] rs947661 1 156494916 [A/G] 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 rs942965 1 156505061 [T/C] NM_178229 IQGAP3 Silent variant.7363 1 156506971 [A/G] NM_178229 IQGAP3 Silent 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 rs1177696 1 156508477 [A/G] NM_178229 IQGAP3 Silent exm109299 1 156509223 [T/C] NM_178229 IQGAP3 EXON Missense_R1000H variant.7366 1 156509730 [T/G] NM_178229 IQGAP3 EXON Nonsense_S931X 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 rs1778818 1 156520320 [T/C] NM_178229 IQGAP3 Silent 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 rs6694580 1 156524221 [T/G] NM_178229 IQGAP3 Silent 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 rs9988587 1 156542599 [T/C] rs10908509 1 156550254 [T/C] NM_001105669 TTC24 Silent rs6679425 1 156550968 [A/C] NM_001105669 TTC24 Silent 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 indel.7389 1 156554965 [I/D] NM_001105669 TTC24 EXON variant.7392 1 156555024 [A/G] NM_001105669 TTC24 Silent 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 rs4661188 1 156560502 [A/G] 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 newrs147197432 1 156563199 [A/G] NM_144772 APOA1BP Silent 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 indel.7405 1 156564976 [I/D] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON newrs141105131 1 156565010 [A/G] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Nonsense_Q370X,Nonsense_Q375X exm109594 1 156565010 [A/G] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Nonsense_Q370X,Nonsense_Q375X newrs72559129 1 156565049 [D/I] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON 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 indel.7408 1 156565248 [D/I] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON 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 indel.7409 1 156565503 [I/D] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON exm109626 1 156566195 [A/G] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Missense_S137P,Missense_S142P variant.7410 1 156568073 [T/C] NM_182679,NM_015590 GPATCH4,GPATCH4 EXON Nonsense_W64X,Nonsense_W69X 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 rs7536235 1 156581534 [T/C] rs2365714 1 156588749 [A/G] 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 rs12065791 1 156621251 [T/C] NM_021948,NM_198427 BCAN,BCAN EXON Missense_S356L,Missense_S356L exm109734 1 156621251 [T/C] NM_021948,NM_198427 BCAN,BCAN EXON Missense_S356L,Missense_S356L 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 exm109758 1 156622252 [A/G] NM_021948,NM_198427 BCAN,BCAN EXON Missense_E504K,Missense_E504K rs1056695 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 rs3748570 1 156640156 [A/G] NM_006617 NES EXON Missense_P1275L 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 rs3828043 1 156640503 [T/C] NM_006617 NES EXON Synonymous_G1159G 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 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 var_1_156641603 1 156641603 [A/G] NM_006617 NES EXON Nonsense_Q793X exm109937 1 156641609 [T/G] NM_006617 NES EXON Missense_L791I newrs148343241 1 156641687 [A/G] NM_006617 NES EXON Nonsense_R765X 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 variant.7431 1 156642207 [A/C] NM_006617 NES EXON Missense_K591N 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 rs11264516 1 156650909 [T/C] rs7532302 1 156659768 [T/C] rs3935541 1 156662372 [A/G] rs11264527 1 156667399 [T/C] exm110031 1 156670334 [G/C] NM_001878,NM_001199723 CRABP2,CRABP2 EXON Synonymous_L122L,Synonymous_L122L exm110032 1 156670351 [T/C] NM_001878,NM_001199723 CRABP2,CRABP2 EXON Missense_D117N,Missense_D117N var_1_156670380 1 156670381 [D/I] NM_001878,NM_001199723 CRABP2,CRABP2 EXON exm110042 1 156670829 [A/G] NM_001878,NM_001199723 CRABP2,CRABP2 EXON Missense_L29P,Missense_L29P variant.7439 1 156675169 [A/C] NM_001878,NM_001199723 CRABP2,CRABP2 EXON Missense_G24W,Missense_G24W rs12140437 1 156686005 [A/C] rs6427327 1 156688372 [A/G] 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_001142560,NM_015997 RRNAD1,RRNAD1 EXON Missense_Q16R,Missense_Q16R exm-rs12145743 1 156700651 [T/G] NM_001142560,NM_015997 RRNAD1,RRNAD1 Silent,Silent rs7550297 1 156700845 [A/C] NM_001142560,NM_015997 RRNAD1,RRNAD1 Silent,Silent exm110102 1 156702216 [A/G] NM_001142560,NM_015997 RRNAD1,RRNAD1 EXON Missense_R127Q,Missense_R127Q indel.7443 1 156702797 [I/D] NM_001142560,NM_015997 RRNAD1,RRNAD1 EXON exm110109 1 156702820 [T/C] NM_001142560,NM_015997 RRNAD1,RRNAD1 EXON Missense_V158A,Missense_V158A exm110118 1 156703837 [A/G] NM_001142560,NM_015997 RRNAD1,RRNAD1 EXON Silent,Missense_V225M exm110144 1 156705634 [T/G] NM_001142560,NM_015997 RRNAD1,RRNAD1 EXON Missense_S252A,Synonymous_A413A exm110146 1 156705683 [T/C] NM_001142560,NM_015997 RRNAD1,RRNAD1 EXON Missense_A268V,Synonymous_L430L exm110157 1 156706501 [T/C] NM_001142560,NM_015997 RRNAD1,RRNAD1 EXON Silent,Missense_P462S indel.7449 1 156707514 [D/I] NM_145729,NM_024540 MRPL24,MRPL24 EXON 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_004494,NM_001126050,NM_001126051 HDGF,HDGF,HDGF EXON Silent,Silent,Silent exm110193 1 156713451 [A/G] NM_004494,NM_001126050,NM_001126051 HDGF,HDGF,HDGF EXON Missense_H237Y,Missense_H253Y,Missense_H230Y exm110202 1 156713558 [A/G] NM_004494,NM_001126050,NM_001126051 HDGF,HDGF,HDGF EXON Missense_P201L,Missense_P217L,Missense_P194L exm110207 1 156713631 [T/C] NM_004494,NM_001126050,NM_001126051 HDGF,HDGF,HDGF EXON Missense_G177R,Missense_G193R,Missense_G170R exm110209 1 156713657 [T/C] NM_004494,NM_001126050,NM_001126051 HDGF,HDGF,HDGF EXON Missense_R168H,Missense_R184H,Missense_R161H exm110211 1 156713960 [T/G] NM_004494,NM_001126050,NM_001126051 HDGF,HDGF,HDGF EXON Missense_L162M,Missense_L178M,Missense_L155M exm110214 1 156714026 [A/C] NM_004494,NM_001126050,NM_001126051 HDGF,HDGF,HDGF EXON Missense_V140F,Missense_V156F,Missense_V133F exm110232 1 156721861 [A/G] NM_001126050,NM_001126051 HDGF,HDGF EXON Silent,Missense_T12M exm110240 1 156737617 [C/G] NM_005973 PRCC EXON Missense_E18D rs11264542 1 156737969 [T/C] NM_005973 PRCC EXON Missense_P136S rs11264546 1 156743173 [A/G] NM_005973 PRCC Silent exm110261 1 156752120 [A/C] NM_005973 PRCC EXON Missense_Q172P rs3765787 1 156754465 [T/C] NM_005973 PRCC Silent 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 variant.7453 1 156760931 [T/C] NM_005973 PRCC Silent exm110299 1 156761540 [A/C] NM_005973 PRCC EXON Missense_P379T exm110301 1 156761543 [G/C] NM_005973 PRCC EXON Missense_Q380E rs3765783 1 156765973 [T/C] NM_005973 PRCC Silent rs16837672 1 156774021 [A/G] rs2644608 1 156774029 [T/C] variant.7454 1 156776967 [T/C] NM_001161441,NM_001161443,NM_003975,NM_001161442,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Silent,Silent,Silent,Silent,Silent exm110312 1 156776968 [A/G] NM_001161441,NM_001161443,NM_003975,NM_001161442,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Silent,Silent,Silent,Silent,Silent exm110314 1 156777017 [T/G] NM_001161441,NM_001161443,NM_003975,NM_001161442,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Missense_L385I,Missense_L347I,Missense_L375I,Missense_L357I,Missense_L375I exm110335 1 156779505 [T/C] NM_001161441,NM_001161443,NM_003975,NM_001161442,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Missense_K231R,Missense_K193R,Missense_K221R,Missense_K203R,Missense_K221R exm1719300 1 156784913 [T/C] NM_001161441,NM_001161443,NM_003975,NM_001161442,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Missense_R75Q,Missense_R47Q,Missense_R75Q,Missense_R57Q,Missense_R75Q exm110358 1 156784982 [T/C] NM_001161441,NM_001161443,NM_003975,NM_001161442,NM_001161444 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A EXON Missense_N52S,Missense_N24S,Missense_N52S,Missense_N34S,Missense_N52S rs1800601 1 156785617 [A/G] NM_001161441,NM_001161443,NM_003975,NM_001161442,NM_001161444,NM_001007792 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A,NTRK1 EXON Silent,Silent,Silent,Silent,Silent,Silent exm110370 1 156785800 [A/C] NM_001161441,NM_001161443,NM_003975,NM_001161442,NM_001161444,NM_001007792 SH2D2A,SH2D2A,SH2D2A,SH2D2A,SH2D2A,NTRK1 EXON Missense_A41S,Missense_A13S,Missense_A41S,Missense_A23S,Missense_A41S,Silent exm110378 1 156786487 [T/A] NM_001161441,NM_003975,NM_001161442,NM_001161444,NM_001007792 SH2D2A,SH2D2A,SH2D2A,SH2D2A,NTRK1 EXON Missense_L5Q,Missense_L5Q,Silent,Missense_L5Q,Silent rs7522395 1 156796697 [T/C] NM_001007792 NTRK1 Silent rs4661061 1 156802657 [A/G] NM_001007792 NTRK1 Silent rs7534418 1 156805803 [T/C] NM_001007792 NTRK1 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 indel.7462 1 156812800 [D/I] NM_001007792,NM_014215 NTRK1,INSRR EXON 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 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 variant.7482 1 156844801 [T/G] NM_001007792,NM_002529,NM_001012331 NTRK1,NTRK1,NTRK1 Silent,Silent,Silent 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 rs943551 1 156855497 [T/C] rs3118644 1 156863043 [T/C] exm-rs12566888 1 156869047 [T/G] NM_001080471 PEAR1 Silent rs2768744 1 156872149 [A/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 rs2644592 1 156875764 [A/G] NM_001080471 PEAR1 Silent 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 rs6671392 1 156878737 [T/C] NM_001080471 PEAR1 EXON Synonymous_P440P exm110874 1 156879581 [A/G] NM_001080471 PEAR1 EXON Missense_G484R 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 rs12143768 1 156891610 [A/G] NM_144702 LRRC71 Silent 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 indel.7503 1 156899209 [D/I] NM_144702 LRRC71 EXON variant.7505 1 156900319 [A/G] NM_144702 LRRC71 Silent exm111021 1 156900320 [G/C] NM_144702 LRRC71 Silent variant.7508 1 156901762 [T/C] NM_144702 LRRC71 EXON Nonsense_R462X variant.7509 1 156901819 [T/C] NM_144702 LRRC71 EXON Missense_R481W rs822429 1 156901888 [T/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 rs2275199 1 156909695 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Synonymous_N1207N,Synonymous_N1247N exm111126 1 156911718 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_M1090I,Missense_M1130I var_1_156912482 1 156912482 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Missense_T1069I,Missense_T1109I 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 variant.7515 1 156926207 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent 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 rs12132684 1 156927751 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent 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 var_1_156931516 1 156931516 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Nonsense_R358X,Nonsense_R398X variant.7518 1 156932994 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent 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 variant.7519 1 156933307 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent 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 rs1572416 1 156952054 [A/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent 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 rs7542311 1 156964052 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent rs822577 1 156972467 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent rs967072 1 156972485 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent rs1094561 1 156992753 [T/C] NM_014784,NM_198236 ARHGEF11,ARHGEF11 Silent,Silent rs822572 1 157014702 [A/G] NM_014784,NM_198236 ARHGEF11,ARHGEF11 EXON Silent,Silent rs4661083 1 157055048 [T/C] rs1055106 1 157061973 [T/C] NM_001004341 ETV3L EXON Silent 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 rs6689840 1 157077577 [T/G] rs1183449 1 157083817 [A/G] rs946577 1 157086131 [A/G] exm111358 1 157094802 [T/G] NM_001145312 ETV3 EXON Missense_K457T rs7521824 1 157102939 [T/C] NM_001145312 ETV3 Silent rs6427353 1 157109624 [A/G] rs10494309 1 157118421 [T/C] exm-rs11264625 1 157128705 [T/C] exm-rs6427356 1 157130566 [A/G] rs6657097 1 157130719 [A/G] rs6700498 1 157133150 [T/C] rs1176542 1 157133476 [A/G] rs883328 1 157147109 [T/C] rs6675916 1 157151523 [T/C] rs2275447 1 157156851 [T/C] rs11264631 1 157176781 [A/G] rs10494310 1 157193893 [A/G] rs6656933 1 157197805 [T/G] rs7524426 1 157204332 [T/C] rs1591785 1 157206284 [T/G] rs12120788 1 157237374 [A/C] rs11264659 1 157239514 [A/G] rs12079878 1 157244089 [A/C] rs1338685 1 157252102 [T/C] rs1000073 1 157255396 [A/G] rs1535982 1 157256043 [A/C] rs12130232 1 157259119 [A/G] rs6682568 1 157263272 [T/C] rs9427247 1 157276277 [A/G] rs1338678 1 157283479 [A/G] rs4661119 1 157306264 [T/C] rs7535100 1 157319351 [A/C] rs4661028 1 157322310 [A/C] rs873448 1 157330887 [T/G] rs11264701 1 157338665 [T/C] rs6677369 1 157341897 [T/C] rs12408914 1 157346107 [T/C] rs4661142 1 157348712 [T/C] rs2209354 1 157354879 [T/C] rs12734925 1 157367179 [T/C] exm2268768 1 157367179 [T/C] rs10908563 1 157369202 [A/G] rs7549840 1 157372996 [A/C] rs12073794 1 157375078 [T/C] rs4246535 1 157383945 [T/C] rs4246536 1 157384175 [T/C] rs16838537 1 157385496 [T/C] rs9427273 1 157386282 [T/C] rs7416817 1 157386331 [T/C] rs7416823 1 157386394 [T/C] rs12748574 1 157387799 [T/C] rs7535020 1 157393023 [T/C] rs7523656 1 157402121 [A/G] rs1970101 1 157402470 [T/C] rs4246538 1 157406190 [A/G] rs6686423 1 157437510 [A/G] rs6675938 1 157441651 [T/C] rs11264737 1 157442117 [A/G] rs11264738 1 157442315 [A/G] rs950453 1 157449254 [A/G] rs6680515 1 157463366 [T/C] rs7340113 1 157474737 [T/C] rs3843307 1 157484575 [A/G] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Silent,Silent exm111388 1 157485429 [G/C] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_C987S,Silent exm111390 1 157485472 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_T973A,Missense_H976R exm111392 1 157485504 [A/G] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_P962L,Synonymous_S965S exm111393 1 157485511 [A/G] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_R960W,Missense_P963L exm111394 1 157485519 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_R957H,Synonymous_A960A exm111407 1 157488519 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Nonsense_W905X,Nonsense_W905X exm1720130 1 157489532 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 Silent,Silent exm111446 1 157494243 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_I689V,Missense_I689V newrs145731616 1 157497406 [A/C] NM_001195388,NM_031281 FCRL5,FCRL5 Silent,Silent 1KG_1_157504353 1 157504353 [D/I] NM_001195388,NM_031281 FCRL5,FCRL5 variant.7535 1 157504541 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Nonsense_W515X,Nonsense_W515X exm111476 1 157504553 [A/T] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_D511V,Missense_D511V exm111477 1 157504557 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_E510K,Missense_E510K indel.7536 1 157504620 [I/D] NM_001195388,NM_031281 FCRL5,FCRL5 EXON rs1972240 1 157508607 [A/G] NM_001195388,NM_031281 FCRL5,FCRL5 Silent,Silent exm111483 1 157508882 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_V466I,Missense_V466I exm111487 1 157508906 [A/G] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_R458C,Missense_R458C exm111488 1 157508908 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_Q457R,Missense_Q457R exm111493 1 157508997 [T/G] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_N427K,Missense_N427K exm111494 1 157509005 [A/G] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_S425P,Missense_S425P exm111496 1 157509025 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_G418D,Missense_G418D exm111498 1 157509125 [T/G] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_S385R,Missense_S385R exm111499 1 157509143 [A/G] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_H379Y,Missense_H379Y rs1977588 1 157510939 [A/C] NM_001195388,NM_031281 FCRL5,FCRL5 Silent,Silent rs16838771 1 157511228 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 Silent,Silent exm111509 1 157512702 [A/G] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_A357V,Missense_A357V exm111514 1 157512819 [A/G] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_L318S,Missense_L318S variant.7539 1 157514047 [A/C] NM_001195388,NM_031281 FCRL5,FCRL5 Silent,Silent exm111522 1 157514075 [A/G] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_P274L,Missense_P274L exm111528 1 157514097 [A/G] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_Y267H,Missense_Y267H exm111534 1 157514216 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_R227H,Missense_R227H exm111536 1 157514228 [A/G] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_P223L,Missense_P223L exm111540 1 157514324 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_R191H,Missense_R191H exm111541 1 157514654 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_V176I,Missense_V176I exm111547 1 157516802 [A/G] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_S80P,Missense_S80P exm111548 1 157516823 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_N73D,Missense_N73D exm111550 1 157516861 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_R60Q,Missense_R60Q exm111551 1 157516913 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_T43A,Missense_T43A indel.7540 1 157516961 [D/I] NM_001195388,NM_031281 FCRL5,FCRL5 EXON rs7531685 1 157517127 [T/C] NM_001195388,NM_031281 FCRL5,FCRL5 Silent,Silent exm111560 1 157522133 [A/G] NM_001195388,NM_031281 FCRL5,FCRL5 EXON Missense_L7S,Missense_L7S rs12033164 1 157526446 [A/G] rs2758684 1 157537530 [T/G] rs7523341 1 157540104 [T/G] rs849827 1 157545231 [T/G] NM_031282 FCRL4 EXON Silent 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 indel.7542 1 157548570 [I/D] NM_031282 FCRL4 EXON 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 rs2777963 1 157556532 [A/G] NM_031282 FCRL4 Silent 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 variant.7548 1 157557270 [A/G] NM_031282 FCRL4 EXON Nonsense_Q215X exm111624 1 157557301 [A/C] NM_031282 FCRL4 EXON Missense_E204D exm2277003 1 157557301 [T/C] NM_031282 FCRL4 EXON Synonymous_E204E 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 rs2778003 1 157569194 [A/G] rs2208753 1 157584301 [A/C] rs2777971 1 157588430 [A/G] rs2777976 1 157591350 [A/C] rs2758620 1 157605501 [T/C] rs2758688 1 157607377 [T/C] rs10489676 1 157619889 [T/C] rs12082327 1 157634415 [T/C] rs12125366 1 157641489 [A/G] rs10908583 1 157641683 [T/C] newrs142242973 1 157648533 [A/G] NM_052939 FCRL3 EXON Synonymous_N724N 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 variant.7552 1 157650770 [T/C] NM_052939 FCRL3 Silent 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 rs7549100 1 157657842 [A/G] NM_052939 FCRL3 Silent newrs145465990 1 157659600 [A/G] NM_052939 FCRL3 EXON Nonsense_R600X 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 variant.7557 1 157665119 [T/C] NM_052939 FCRL3 EXON Missense_V471I exm111740 1 157665394 [A/G] NM_052939 FCRL3 EXON Missense_P379L newrs140279920 1 157665830 [T/C] NM_052939 FCRL3 EXON Missense_I378V 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 variant.7565 1 157667444 [A/G] NM_052939 FCRL3 Silent exm111774 1 157667487 [A/G] NM_052939 FCRL3 EXON Missense_I174T indel.7566 1 157667497 [D/I] NM_052939 FCRL3 EXON 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 variant.7567 1 157667706 [T/C] NM_052939 FCRL3 EXON Nonsense_W101X exm111790 1 157668194 [A/C] NM_052939 FCRL3 EXON Missense_V93G exm111799 1 157668347 [A/G] NM_052939 FCRL3 EXON Missense_L42P rs7522061 1 157668390 [T/C] NM_052939 FCRL3 EXON Missense_N28D exm111802 1 157668390 [T/C] NM_052939 FCRL3 EXON Missense_N28D indel.7570 1 157668404 [D/I] NM_052939 FCRL3 EXON exm111803 1 157668414 [T/C] NM_052939 FCRL3 EXON Missense_A20T exm111804 1 157668419 [A/C] NM_052939 FCRL3 EXON Missense_G18V rs3761959 1 157669278 [T/C] NM_052939 FCRL3 Silent variant.7572 1 157669503 [A/C] NM_052939 FCRL3 Silent exm111810 1 157670250 [C/G] NM_052939 FCRL3 EXON Synonymous_L10L exm111816 1 157670278 [T/A] NM_052939 FCRL3 EXON Missense_M1K rs7528684 1 157670816 [A/G] rs17676303 1 157679691 [T/C] rs6688945 1 157702017 [A/G] exm111824 1 157716528 [A/G] NM_030764 FCRL2 EXON Missense_X509Q exm111825 1 157716564 [T/C] NM_030764 FCRL2 EXON Missense_D497N rs3818813 1 157718325 [T/G] NM_030764 FCRL2 Silent exm111838 1 157718731 [G/C] NM_030764 FCRL2 EXON Missense_P443A 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 rs2873413 1 157737504 [A/G] NM_030764 FCRL2 Silent newrs138708903 1 157738203 [T/C] NM_030764 FCRL2 Silent 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 1KG_1_157740427 1 157740427 [D/I] NM_030764 FCRL2 EXON exm111916 1 157745566 [T/C] NM_030764 FCRL2 EXON Synonymous_A17A rs6677622 1 157751356 [T/C] exm111918 1 157765901 [T/G] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Silent,Missense_E425D,Missense_E426D exm111919 1 157765932 [T/C] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Silent,Missense_R415K,Missense_R416K exm111927 1 157767706 [A/C] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Silent,Missense_V380F,Missense_V380F exm111932 1 157768014 [T/G] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_P312T,Missense_P351T,Missense_P351T exm111933 1 157768030 [C/G] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_S306R,Missense_S345R,Missense_S345R variant.7582 1 157769848 [T/C] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_R305K,Missense_R344K,Missense_R344K exm111937 1 157769874 [T/G] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Synonymous_G296G,Synonymous_G335G,Synonymous_G335G exm111940 1 157771269 [T/C] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Silent,Missense_G329S,Missense_G329S exm111944 1 157771324 [A/C] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Silent,Missense_I310M,Missense_I310M exm2250027 1 157771739 [A/G] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Synonymous_A284A,Synonymous_A284A,Synonymous_A284A indel.7584 1 157771751 [I/D] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON exm111950 1 157771801 [T/G] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_L264I,Missense_L264I,Missense_L264I exm111955 1 157771855 [T/C] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_D246N,Missense_D246N,Missense_D246N exm111967 1 157771966 [T/C] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_I209V,Missense_I209V,Missense_I209V exm111968 1 157771971 [T/C] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_R207H,Missense_R207H,Missense_R207H exm111975 1 157772175 [A/G] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_T200I,Missense_T200I,Missense_T200I exm111976 1 157772289 [T/C] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_R162H,Missense_R162H,Missense_R162H exm2250028 1 157772318 [T/C] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Synonymous_V152V,Synonymous_V152V,Synonymous_V152V newrs147343694 1 157772333 [T/C] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Nonsense_W147X,Nonsense_W147X,Nonsense_W147X exm111980 1 157772404 [T/C] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_V124M,Missense_V124M,Missense_V124M rs12078586 1 157772404 [T/C] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_V124M,Missense_V124M,Missense_V124M exm111983 1 157772422 [A/G] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Nonsense_Q118X,Nonsense_Q118X,Nonsense_Q118X exm111984 1 157772443 [T/C] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_A111T,Missense_A111T,Missense_A111T exm111988 1 157773646 [A/T] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_I103K,Missense_I103K,Missense_I103K exm2273706 1 157773757 [A/C] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_S66I,Missense_S66I,Missense_S66I exm111995 1 157773880 [A/G] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_P25L,Missense_P25L,Missense_P25L rs6689427 1 157780892 [A/G] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 Silent,Silent,Silent exm112003 1 157789820 [A/G] NM_001159397,NM_001159398,NM_052938 FCRL1,FCRL1,FCRL1 EXON Missense_P3L,Missense_P3L,Missense_P3L rs12143912 1 157794774 [T/C] variant.7589 1 157801759 [T/C] NM_005894 CD5L Silent 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 rs2765501 1 157804648 [A/G] NM_005894 CD5L Silent rs11537583 1 157805650 [T/A] NM_005894 CD5L EXON Missense_D117E exm112039 1 157805650 [T/A] NM_005894 CD5L EXON Missense_D117E exm112041 1 157805673 [A/C] NM_005894 CD5L EXON Nonsense_E110X newrs142870154 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 rs16839299 1 157825776 [T/C] rs11582594 1 157842192 [A/G] rs12074997 1 157842936 [T/G] rs7520880 1 157848162 [A/C] rs7524550 1 157864913 [A/G] rs11264845 1 157871097 [A/G] rs4450009 1 157879145 [T/C] rs7524095 1 157879294 [T/C] rs7514610 1 157891565 [T/C] rs6704322 1 157907476 [T/G] rs10494321 1 157908444 [A/G] rs1925035 1 157909525 [T/C] rs1925036 1 157910302 [A/G] rs753345 1 157927955 [T/C] rs1929843 1 157944945 [T/G] rs6696582 1 157947235 [A/C] rs7518837 1 157955130 [A/G] rs6698985 1 157975608 [A/G] NM_018240 KIRREL Silent rs1972216 1 158000740 [T/G] NM_018240 KIRREL Silent rs6688137 1 158008056 [A/G] NM_018240 KIRREL Silent rs6686246 1 158009712 [T/C] NM_018240 KIRREL Silent rs7527735 1 158023515 [A/G] NM_018240 KIRREL Silent rs7552600 1 158029021 [A/C] NM_018240 KIRREL Silent rs1886389 1 158036740 [T/C] NM_018240 KIRREL Silent rs7547764 1 158040193 [A/G] NM_018240 KIRREL Silent rs12033891 1 158043445 [A/G] NM_018240 KIRREL Silent rs11264900 1 158045749 [A/G] NM_018240 KIRREL Silent 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 rs11264902 1 158049646 [T/C] NM_018240 KIRREL Silent exm2268769 1 158049762 [T/C] NM_018240 KIRREL Silent rs6697006 1 158050627 [A/G] NM_018240 KIRREL Silent rs6695790 1 158052966 [T/G] NM_018240 KIRREL Silent rs11802995 1 158053024 [A/C] NM_018240 KIRREL Silent exm2263864 1 158058109 [A/C] NM_018240 KIRREL Silent rs6427419 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 rs12088518 1 158073254 [T/G] rs1324659 1 158085565 [A/G] rs12071018 1 158087841 [T/C] rs12061698 1 158088687 [A/G] rs1998639 1 158089212 [T/C] rs10797003 1 158100580 [T/C] rs12042121 1 158109813 [T/C] NR_033946 LOC646268 Silent rs980937 1 158140205 [A/G] rs3087210 1 158146028 [A/G] 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 newrs149673076 1 158151902 [T/C] NM_001766 CD1D EXON Nonsense_Q137X 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 rs692565 1 158153526 [T/C] NM_001766 CD1D Silent variant.7601 1 158153826 [A/G] NM_001766 CD1D Silent rs371380 1 158159393 [A/G] rs691175 1 158178492 [T/C] rs384414 1 158179236 [T/C] rs691314 1 158183942 [A/G] rs432611 1 158215299 [A/C] rs3181029 1 158219965 [T/C] exm112223 1 158224516 [T/C] NM_001763 CD1A EXON Synonymous_D19D rs411089 1 158224825 [T/C] NM_001763 CD1A Silent 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 newrs187686385 1 158225142 [T/C] NM_001763 CD1A Silent variant.7604 1 158225808 [T/C] NM_001763 CD1A EXON Nonsense_Q114X exm112253 1 158226022 [A/G] NM_001763 CD1A EXON Missense_R185H variant.7605 1 158226072 [T/G] NM_001763 CD1A EXON Missense_V202L 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 rs10797006 1 158257838 [A/C] variant.7610 1 158260989 [T/C] NM_001765 CD1C EXON Nonsense_R43X 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 newrs115959450 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 variant.7613 1 158262511 [T/C] NM_001765 CD1C EXON Nonsense_Q246X 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 rs1923142 1 158267853 [T/C] rs1321646 1 158295009 [T/C] rs10797007 1 158295629 [A/G] 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 variant.7619 1 158299693 [A/G] NM_001764 CD1B EXON Nonsense_R186X 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 rs10158210 1 158311985 [A/G] exm112427 1 158323779 [A/G] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 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_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Missense_Q22R,Silent,Silent,Silent,Missense_Q22R,Missense_Q22R,Silent,Missense_Q22R,Silent,Missense_Q22R,Missense_Q22R,Missense_Q22R exm112436 1 158324253 [A/G] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Missense_S49G,Silent,Silent,Silent,Missense_S49G,Missense_S49G,Silent,Missense_S49G,Silent,Missense_S49G,Missense_S49G,Missense_S49G exm112437 1 158324262 [T/C] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Missense_H52Y,Silent,Silent,Silent,Missense_H52Y,Missense_H52Y,Silent,Missense_H52Y,Silent,Missense_H52Y,Missense_H52Y,Missense_H52Y variant.7622 1 158324355 [T/G] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Nonsense_G83X,Silent,Silent,Silent,Nonsense_G83X,Nonsense_G83X,Silent,Nonsense_G83X,Silent,Nonsense_G83X,Nonsense_G83X,Nonsense_G83X exm112444 1 158324413 [A/G] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Missense_H102R,Silent,Silent,Silent,Missense_H102R,Missense_H102R,Silent,Missense_H102R,Silent,Missense_H102R,Missense_H102R,Missense_H102R variant.7623 1 158324424 [T/C] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Nonsense_Q106X,Silent,Silent,Silent,Nonsense_Q106X,Nonsense_Q106X,Silent,Nonsense_Q106X,Silent,Nonsense_Q106X,Nonsense_Q106X,Nonsense_Q106X exm112445 1 158324425 [A/G] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Missense_Q106R,Silent,Silent,Silent,Missense_Q106R,Missense_Q106R,Silent,Missense_Q106R,Silent,Missense_Q106R,Missense_Q106R,Missense_Q106R indel.7624 1 158325146 [I/D] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON exm112452 1 158325180 [A/G] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Missense_S149N,Silent,Silent,Silent,Silent,Missense_S149N,Silent,Silent,Missense_S50N,Missense_S149N,Silent,Missense_S149N exm112453 1 158325224 [T/C] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Missense_R164W,Silent,Silent,Silent,Silent,Missense_R164W,Silent,Silent,Missense_R65W,Missense_R164W,Silent,Missense_R164W exm112456 1 158325318 [T/C] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Missense_A195V,Silent,Silent,Silent,Silent,Missense_A195V,Silent,Silent,Missense_A96V,Missense_A195V,Silent,Missense_A195V variant.7626 1 158325364 [A/G] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm112480 1 158326335 [A/T] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_T129S,Missense_T318S,Missense_Y94F,Missense_T74S,Missense_T74S,Missense_T228S,Missense_T263S,Missense_T129S,Missense_T228S,Missense_T219S,Missense_T318S,Missense_T173S,Missense_Y283F exm1720795 1 158326349 [T/G] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_L133F,Missense_L322F,Missense_G99C,Missense_L78F,Missense_L78F,Missense_L232F,Missense_L267F,Missense_L133F,Missense_L232F,Missense_L223F,Missense_L322F,Missense_L177F,Missense_G288C indel.7629 1 158326369 [I/D] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON variant.7630 1 158326386 [T/G] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm112484 1 158326525 [A/C] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Silent,Silent,Silent,Missense_K92Q,Missense_K246Q,Silent,Missense_K147Q,Silent,Missense_K237Q,Missense_K336Q,Silent,Silent newrs180980445 1 158326553 [A/G] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Silent,Silent,Silent,Missense_S101N,Missense_S255N,Silent,Missense_S156N,Silent,Missense_S246N,Missense_S345N,Silent,Silent exm112486 1 158326553 [A/G] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Silent,Silent,Silent,Silent,Missense_S101N,Missense_S255N,Silent,Missense_S156N,Silent,Missense_S246N,Missense_S345N,Silent,Silent exm112490 1 158326645 [A/G] NM_001042586,NM_001042583,NM_001042587,NM_001185110,NM_001185113,NM_001185107,NM_001042585,NM_001185112,NM_001185115,NM_001185114,NM_030893,NM_001185108,NM_001042584 CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E,CD1E EXON Missense_V175I,Missense_V364I,Silent,Missense_V120I,Missense_V132I,Missense_V286I,Missense_V309I,Missense_V187I,Missense_V274I,Missense_V277I,Missense_V376I,Missense_V219I,Silent rs12742463 1 158330242 [A/G] rs10908648 1 158332459 [A/C] rs13376124 1 158338434 [A/G] rs11801558 1 158338906 [T/C] rs7547997 1 158341273 [A/G] rs12736117 1 158349097 [A/G] 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 rs6662382 1 158368846 [T/C] NM_001004475 OR10T2 EXON Missense_I137M 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 var_1_158369048 1 158369048 [I/D] NM_001004475 OR10T2 EXON 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 rs17673153 1 158372524 [T/C] rs10489828 1 158377882 [T/C] rs4656284 1 158381815 [A/G] rs10489829 1 158387196 [A/G] exm112561 1 158389793 [T/C] NM_001004476 OR10K2 EXON Missense_M288I indel.7635 1 158389834 [I/D] NM_001004476 OR10K2 EXON 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 rs7519343 1 158403819 [T/C] rs6699757 1 158415517 [T/C] rs12127971 1 158425271 [A/C] 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 indel.7636 1 158435532 [I/D] NM_001004473 OR10K1 EXON 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 1KG_1_158436285 1 158436285 [D/I] NM_001004473 OR10K1 EXON 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 indel.7638 1 158450025 [D/I] NM_001004472 OR10R2 EXON 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 rs1418843 1 158450382 [T/C] NM_001004472 OR10R2 EXON Missense_L239F 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 rs950488 1 158459975 [A/C] rs879635 1 158462908 [T/C] rs1342958 1 158468676 [T/G] exm2263837 1 158488899 [A/C] rs6699473 1 158495209 [T/C] rs12121983 1 158510273 [T/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 indel.7640 1 158517401 [I/D] NM_001005189 OR6Y1 EXON 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 1KG_1_158517832 1 158517832 [D/I] NM_001005189 OR6Y1 EXON 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 rs10908684 1 158523671 [T/G] 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 indel.7643 1 158533121 [D/I] NM_001160325 OR6P1 EXON 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 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 rs863363 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 rs2479861 1 158554142 [A/G] rs857707 1 158564383 [A/G] variant.7649 1 158576298 [T/C] NM_001004478 OR10Z1 EXON Nonsense_Q24X exm112941 1 158576394 [A/C] NM_001004478 OR10Z1 EXON Missense_H56N exm112944 1 158576472 [T/C] NM_001004478 OR10Z1 EXON Missense_L82F variant.7651 1 158576526 [T/C] NM_001004478 OR10Z1 EXON Nonsense_Q100X 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 indel.7653 1 158576757 [I/D] NM_001004478 OR10Z1 EXON 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 indel.7654 1 158576993 [D/I] NM_001004478 OR10Z1 EXON exm112975 1 158577109 [A/C] NM_001004478 OR10Z1 EXON Missense_N294T indel.7656 1 158577116 [I/D] NM_001004478 OR10Z1 EXON exm112976 1 158577120 [C/G] NM_001004478 OR10Z1 EXON Missense_Q298E variant.7657 1 158577165 [T/G] NM_001004478 OR10Z1 EXON Nonsense_G313X rs2479868 1 158580069 [T/C] 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 variant.7658 1 158596629 [T/C] NM_003126 SPTA1 EXON Missense_A1945T exm113072 1 158596683 [T/C] NM_003126 SPTA1 EXON Missense_D1927N exm2250038 1 158596684 [A/G] NM_003126 SPTA1 EXON Synonymous_D1926D indel.7659 1 158596767 [D/I] NM_003126 SPTA1 EXON exm113075 1 158597458 [T/C] NM_003126 SPTA1 EXON Missense_R1874Q rs16830483 1 158604391 [T/C] NM_003126 SPTA1 EXON Missense_N1836S exm113082 1 158604391 [T/C] NM_003126 SPTA1 EXON Missense_N1836S variant.7660 1 158605704 [A/G] NM_003126 SPTA1 EXON Nonsense_R1811X exm2231546 1 158605725 [A/G] NM_003126 SPTA1 EXON Missense_L1804F exm113088 1 158605757 [T/C] NM_003126 SPTA1 EXON Missense_R1793Q rs3738791 1 158606449 [T/G] NM_003126 SPTA1 EXON Synonymous_A1764A rs857724 1 158607372 [T/C] NM_003126 SPTA1 Silent exm113112 1 158607931 [T/C] NM_003126 SPTA1 EXON Missense_R1694H exm113113 1 158607935 [T/G] NM_003126 SPTA1 EXON Missense_K1693Q indel.7661 1 158609385 [D/I] NM_003126 SPTA1 EXON 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 variant.7663 1 158613217 [T/G] NM_003126 SPTA1 Silent indel.7665 1 158614045 [D/I] NM_003126 SPTA1 EXON exm113167 1 158614141 [A/G] NM_003126 SPTA1 EXON Missense_R1414C variant.7666 1 158614187 [T/C] NM_003126 SPTA1 Silent variant.7667 1 158615280 [T/C] NM_003126 SPTA1 Silent 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 rs16840445 1 158625789 [T/C] NM_003126 SPTA1 Silent rs857691 1 158626378 [T/C] NM_003126 SPTA1 EXON Synonymous_L958L exm113239 1 158626382 [A/G] NM_003126 SPTA1 EXON Missense_A957V rs16840450 1 158627315 [T/C] NM_003126 SPTA1 EXON Synonymous_E919E 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 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 newrs74692803 1 158641844 [A/G] NM_003126 SPTA1 Silent indel.7671 1 158641929 [I/D] NM_003126 SPTA1 EXON 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 variant.7672 1 158647479 [T/C] NM_003126 SPTA1 Silent rs703121 1 158647522 [A/G] NM_003126 SPTA1 EXON Synonymous_S305S exm113358 1 158647584 [T/G] NM_003126 SPTA1 EXON Missense_P285T exm113363 1 158648210 [T/C] NM_003126 SPTA1 EXON Missense_N265D newrs121918636 1 158648222 [A/G] NM_003126 SPTA1 EXON Missense_S261P newrs121918634 1 158648224 [A/G] NM_003126 SPTA1 EXON Missense_L260P 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 variant.7675 1 158650372 [T/C] NM_003126 SPTA1 Silent exm1721153 1 158650431 [A/G] NM_003126 SPTA1 EXON Missense_L207P newrs121918643 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 variant.7679 1 158654984 [A/G] NM_003126 SPTA1 EXON Nonsense_R60X variant.7681 1 158655028 [T/C] NM_003126 SPTA1 EXON Missense_R45K 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 variant.7684 1 158656284 [T/G] NM_003126 SPTA1 EXON Synonymous_T8T rs857940 1 158656973 [T/C] rs2023405 1 158662926 [A/C] exm2231556 1 158669524 [T/C] NM_001005279 OR6K2 EXON Missense_G307S variant.7686 1 158669631 [T/C] NM_001005279 OR6K2 EXON Nonsense_W271X 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 indel.7687 1 158669771 [I/D] NM_001005279 OR6K2 EXON 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 rs451851 1 158685036 [A/G] 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 newrs79482939 1 158687142 [T/G] NM_001005327 OR6K3 EXON Nonsense_S255X 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 rs857703 1 158687224 [A/G] NM_001005327 OR6K3 EXON Missense_P228S variant.7694 1 158687255 [A/C] NM_001005327 OR6K3 EXON Nonsense_Y217X exm113504 1 158687308 [T/C] NM_001005327 OR6K3 EXON Missense_V200M exm113507 1 158687451 [T/C] NM_001005327 OR6K3 EXON Missense_G152D newrs140925198 1 158687580 [I/D] NM_001005327 OR6K3 EXON 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 rs857705 1 158687896 [T/C] NM_001005327 OR6K3 EXON Missense_G4R rs1429854 1 158704144 [A/G] rs12076675 1 158704573 [A/G] rs2435282 1 158707690 [A/G] rs375227 1 158720817 [A/G] rs12085542 1 158724073 [T/C] exm113544 1 158724634 [A/G] NM_001005184 OR6K6 EXON Missense_H10R exm113545 1 158724650 [T/A] NM_001005184 OR6K6 EXON Missense_S15R indel.7698 1 158724671 [I/D] NM_001005184 OR6K6 EXON 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 variant.7700 1 158725116 [T/C] NM_001005184 OR6K6 EXON Nonsense_Q171X 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 rs6680399 1 158729346 [A/G] rs11810781 1 158729713 [T/C] rs857819 1 158734560 [T/C] exm113613 1 158735595 [T/C] NM_001005185 OR6N1 EXON Missense_R293H exm113616 1 158735662 [T/C] NM_001005185 OR6N1 EXON Missense_D271N rs857825 1 158735691 [T/C] NM_001005185 OR6N1 EXON Missense_Q261R 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 rs1864346 1 158736445 [T/C] NM_001005185 OR6N1 EXON Missense_A10T exm113663 1 158736445 [T/C] NM_001005185 OR6N1 EXON Missense_A10T rs6427448 1 158739691 [T/C] rs1864348 1 158741091 [T/C] rs2518524 1 158746336 [T/C] 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 variant.7703 1 158746933 [A/G] NM_001005278 OR6N2 EXON Nonsense_Q165X indel.7704 1 158746952 [D/I] NM_001005278 OR6N2 EXON 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 variant.7707 1 158747278 [A/G] NM_001005278 OR6N2 EXON Nonsense_R50X exm113710 1 158747296 [A/G] NM_001005278 OR6N2 EXON Missense_L44F rs857838 1 158750550 [A/C] rs857847 1 158754813 [A/G] rs919477 1 158772845 [T/C] rs16841134 1 158784017 [T/C] rs857788 1 158785137 [A/G] rs857791 1 158788997 [T/G] rs7513873 1 158803873 [A/G] NM_002432 MNDA Silent rs857869 1 158810312 [T/C] NM_002432 MNDA Silent exm113728 1 158812064 [C/G] NM_002432 MNDA EXON Missense_E41Q exm113730 1 158812091 [G/C] NM_002432 MNDA EXON Missense_D50H variant.7708 1 158812190 [T/C] NM_002432 MNDA EXON Nonsense_R83X 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 indel.7710 1 158813908 [D/I] NM_002432 MNDA EXON exm113752 1 158813911 [T/C] NM_002432 MNDA EXON Missense_P190L exm113753 1 158813912 [A/G] NM_002432 MNDA EXON Synonymous_P190P rs860781 1 158814834 [T/C] NM_002432 MNDA Silent exm113756 1 158815405 [T/G] NM_002432 MNDA EXON Missense_V200G exm113758 1 158815410 [A/G] NM_002432 MNDA EXON Missense_A202T indel.7712 1 158815534 [I/D] NM_002432 MNDA EXON exm113763 1 158815546 [T/C] NM_002432 MNDA EXON Missense_F247S exm113764 1 158815580 [T/G] NM_002432 MNDA EXON Missense_E258D variant.7714 1 158815788 [T/C] NM_002432 MNDA EXON Nonsense_Q328X rs2188112 1 158816589 [T/C] NM_002432 MNDA Silent indel.7715 1 158817535 [D/I] NM_002432 MNDA EXON 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 variant.7718 1 158817632 [T/C] NM_002432 MNDA EXON Nonsense_R368X exm113794 1 158817666 [A/G] NM_002432 MNDA EXON Missense_R379H variant.7719 1 158817680 [T/G] NM_002432 MNDA EXON Missense_V384L variant.7720 1 158817684 [T/G] NM_002432 MNDA EXON Missense_C385F indel.7721 1 158817686 [D/I] NM_002432 MNDA EXON exm113801 1 158819011 [T/C] NM_002432 MNDA EXON Missense_P403L rs2188114 1 158833750 [T/G] rs2518510 1 158842020 [T/C] rs2494034 1 158842453 [A/G] rs2852657 1 158847720 [T/C] rs16841260 1 158855554 [T/C] rs12088342 1 158871453 [T/G] rs2518544 1 158876921 [A/G] rs856099 1 158891391 [T/C] rs856119 1 158899747 [A/C] rs16841336 1 158901127 [T/C] exm113805 1 158906777 [A/G] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_K26R,Missense_K26R,Missense_K26R,Missense_K26R exm113806 1 158906824 [A/G] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_E42K,Missense_E42K,Missense_E42K,Missense_E42K indel.7723 1 158906883 [I/D] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON variant.7725 1 158906970 [T/C] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 Silent,Silent,Silent,Silent exm113811 1 158908213 [A/G] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Silent,Missense_V98I,Missense_V98I,Silent exm113818 1 158908886 [T/C] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_S134F,Missense_S143F,Missense_S143F,Missense_S134F exm113831 1 158911789 [A/G] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_R192H,Missense_R201H,Missense_R201H,Missense_R192H exm113832 1 158911792 [A/G] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_H193R,Missense_H202R,Missense_H202R,Missense_H193R newrs144716673 1 158911818 [T/C] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Nonsense_R202X,Nonsense_R211X,Nonsense_R211X,Nonsense_R202X exm113834 1 158911818 [T/C] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Nonsense_R202X,Nonsense_R211X,Nonsense_R211X,Nonsense_R202X exm113835 1 158911819 [A/G] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_R202Q,Missense_R211Q,Missense_R211Q,Missense_R202Q exm113837 1 158911921 [A/C] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_T236K,Missense_T245K,Missense_T245K,Missense_T236K exm113839 1 158911988 [T/A] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_R258S,Missense_R267S,Missense_R267S,Missense_R258S newrs150672460 1 158912073 [T/C] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Nonsense_Q287X,Nonsense_Q296X,Nonsense_Q296X,Nonsense_Q287X indel.7731 1 158913618 [D/I] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON exm113850 1 158913694 [T/C] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Nonsense_R364X,Nonsense_R373X,Nonsense_R373X,Nonsense_R364X variant.7733 1 158913709 [T/C] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Nonsense_R369X,Nonsense_R378X,Nonsense_R378X,Nonsense_R369X exm113853 1 158913731 [T/C] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_M376T,Missense_M385T,Missense_M385T,Missense_M376T rs856090 1 158922287 [T/C] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 Silent,Silent,Silent,Silent rs1101999 1 158932555 [T/C] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 Silent,Silent,Silent,Silent rs1633292 1 158941219 [T/C] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 Silent,Silent,Silent,Silent rs10908697 1 158941634 [A/G] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 Silent,Silent,Silent,Silent exm113857 1 158943464 [T/C] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_S454P,Silent,Missense_S463P,Silent exm2231566 1 158943468 [T/C] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_S455L,Silent,Missense_S464L,Silent exm113859 1 158943483 [A/G] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_R460K,Silent,Missense_R469K,Silent exm113864 1 158943539 [T/C] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 EXON Missense_H479Y,Silent,Missense_H488Y,Silent rs1615480 1 158944584 [T/C] NM_198928,NM_198929,NM_152501,NM_198930 PYHIN1,PYHIN1,PYHIN1,PYHIN1 Silent,Silent,Silent,Silent rs1361567 1 158956412 [A/G] rs856142 1 158957703 [T/C] rs856146 1 158959450 [T/C] rs856076 1 158967046 [T/C] rs9887904 1 158978596 [A/C] exm2231567 1 158979950 [A/G] NM_001206567,NM_005531 IFI16,IFI16 EXON Silent,Silent rs856064 1 158983285 [T/C] NM_001206567,NM_005531 IFI16,IFI16 Silent,Silent indel.7736 1 158984653 [I/D] NM_001206567,NM_005531 IFI16,IFI16 EXON 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 indel.7737 1 158986327 [I/D] NM_001206567,NM_005531 IFI16,IFI16 EXON 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 rs856046 1 158987941 [A/G] NM_001206567,NM_005531 IFI16,IFI16 Silent,Silent 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 rs1101993 1 158996895 [A/G] NM_001206567,NM_005531 IFI16,IFI16 Silent,Silent rs12094741 1 158998665 [A/G] NM_001206567,NM_005531 IFI16,IFI16 Silent,Silent indel.7739 1 159002364 [D/I] NM_001206567,NM_005531 IFI16,IFI16 EXON rs1057027 1 159002377 [A/C] NM_001206567,NM_005531 IFI16,IFI16 EXON Missense_R353S,Missense_R409S 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 rs1633266 1 159005977 [T/C] NM_001206567,NM_005531 IFI16,IFI16 Silent,Silent rs3754460 1 159006846 [T/C] 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 rs855865 1 159028378 [T/C] exm113976 1 159032484 [A/C] NM_004833 AIM2 EXON Missense_X344E newrs145420527 1 159033350 [A/G] NM_004833 AIM2 EXON Nonsense_R311X indel.7742 1 159033440 [I/D] NM_004833 AIM2 EXON exm113984 1 159033443 [T/C] NM_004833 AIM2 EXON Missense_I280V indel.7743 1 159035879 [I/D] NM_004833 AIM2 EXON 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 indel.7744 1 159043022 [I/D] NM_004833 AIM2 exm114016 1 159043196 [T/C] NM_004833 AIM2 EXON Missense_E32K exm1721480 1 159043229 [T/C] NM_004833 AIM2 EXON Missense_E21K rs1894043 1 159069211 [T/C] rs16841691 1 159080243 [T/C] rs2852727 1 159086986 [A/G] rs12130875 1 159093732 [A/C] rs2814779 1 159098713 [A/G] rs863035 1 159116681 [T/C] rs3026935 1 159117690 [T/C] rs2814774 1 159135353 [T/C] exm-rs1474747 1 159148513 [T/C] NM_021189,NM_001127173 CADM3,CADM3 Silent,Silent rs2852714 1 159149515 [A/G] NM_021189,NM_001127173 CADM3,CADM3 Silent,Silent rs2852716 1 159153480 [A/G] NM_021189,NM_001127173 CADM3,CADM3 Silent,Silent rs2281300 1 159156285 [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 variant.7747 1 159162520 [A/G] NM_021189,NM_001127173 CADM3,CADM3 EXON Missense_G162R,Missense_G128R 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 rs862991 1 159164364 [A/G] NM_021189,NM_001127173 CADM3,CADM3 Silent,Silent rs2814755 1 159165610 [T/C] NM_021189,NM_001127173 CADM3,CADM3 Silent,Silent 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 rs3027009 1 159173887 [A/G] 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 variant.7751 1 159176203 [A/G] NM_002036,NM_001122951 DARC,DARC EXON Nonsense_W325X,Nonsense_W327X exm114129 1 159176206 [T/C] NM_002036,NM_001122951 DARC,DARC EXON Missense_S326F,Missense_S328F rs3027051 1 159184306 [A/C] rs3027056 1 159186231 [A/G] exm-rs10489849 1 159196765 [T/C] rs10489849 1 159196765 [T/C] rs863013 1 159200020 [T/G] rs12072644 1 159215287 [T/C] rs16841937 1 159217581 [T/C] rs3845624 1 159218266 [A/C] rs10908702 1 159228378 [T/C] rs2325927 1 159236439 [T/C] rs2511212 1 159244893 [T/C] rs2247584 1 159259680 [T/G] NM_002001 FCER1A Silent rs7548864 1 159267255 [A/G] NM_002001 FCER1A Silent exm-rs2251746 1 159272060 [T/C] NM_002001 FCER1A Silent indel.7752 1 159272174 [D/I] NM_002001 FCER1A EXON exm114133 1 159272209 [A/G] NM_002001 FCER1A EXON Missense_A19T variant.7753 1 159272642 [A/G] NM_002001 FCER1A Silent rs12119226 1 159272764 [T/C] NM_002001 FCER1A Silent 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 rs2252226 1 159276153 [T/C] NM_002001 FCER1A Silent 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 rs7549785 1 159277868 [A/G] NM_002001 FCER1A EXON Silent exm-rs2494250 1 159278251 [C/G] rs16842016 1 159280924 [A/G] exm114172 1 159283467 [A/G] NM_001004467 OR10J3 EXON Missense_M328T exm114173 1 159283494 [T/C] NM_001004467 OR10J3 EXON Missense_E319G indel.7754 1 159283523 [I/D] NM_001004467 OR10J3 EXON 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 rs11265165 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 rs4282816 1 159292850 [A/G] rs7552141 1 159311859 [A/G] rs11265177 1 159325834 [A/G] rs4656784 1 159326880 [A/G] rs11265178 1 159329046 [A/C] exm-rs6687840 1 159342439 [T/C] rs6687840 1 159342439 [T/C] exm-rs4446959 1 159357684 [T/C] rs6691297 1 159409196 [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 rs12048482 1 159409857 [A/G] NM_012351 OR10J1 EXON Missense_I103M 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 rs11265204 1 159439913 [A/G] rs4233351 1 159446370 [A/G] exm-rs4133289 1 159453937 [T/C] rs10752629 1 159461877 [T/G] rs4325129 1 159462381 [A/G] rs12047230 1 159479005 [A/G] rs7532282 1 159479781 [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 indel.7758 1 159505158 [I/D] NM_001004469 OR10J5 EXON 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 rs4656837 1 159505297 [T/C] NM_001004469 OR10J5 EXON Synonymous_P167P 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 indel.7760 1 159505509 [I/D] NM_001004469 OR10J5 EXON exm114316 1 159505586 [A/G] NM_001004469 OR10J5 EXON Missense_T71M exm114322 1 159505762 [T/G] NM_001004469 OR10J5 EXON Missense_F12L rs10494325 1 159517379 [T/C] rs6702567 1 159517860 [T/C] rs6681315 1 159531750 [A/G] rs3753867 1 159557369 [A/G] exm114324 1 159557721 [T/C] NM_001639 APCS EXON Missense_P4S var_1_159557780 1 159557780 [A/G] NM_001639 APCS Silent exm114335 1 159558024 [C/G] NM_001639 APCS EXON Nonsense_Y66X exm114342 1 159558227 [T/C] NM_001639 APCS EXON Missense_V134A rs2808661 1 159558258 [A/G] NM_001639 APCS EXON Synonymous_V144V variant.7764 1 159558492 [A/G] NM_001639 APCS EXON Nonsense_W222X rs1037143 1 159567813 [T/C] rs2121479 1 159581387 [T/C] rs10494331 1 159582103 [T/C] rs2794510 1 159592915 [T/C] rs983789 1 159595682 [T/G] exm2268942 1 159598533 [T/C] rs984553 1 159599414 [A/G] rs2808658 1 159613798 [T/C] rs2592900 1 159616629 [A/G] rs1446975 1 159629342 [T/C] exm-rs12093699 1 159647988 [A/G] rs2592887 1 159652939 [T/C] rs726640 1 159655518 [A/G] rs2369146 1 159668195 [A/G] exm-rs876537 1 159674933 [T/C] exm-rs2794520 1 159678816 [T/C] rs2794520 1 159678816 [T/C] rs3093077 1 159679636 [A/C] exm-rs2808630 1 159680868 [T/C] variant.7766 1 159683394 [T/C] NM_000567 CRP EXON Missense_S199N variant.7768 1 159683637 [T/C] NM_000567 CRP EXON Nonsense_W118X exm114370 1 159683683 [T/C] NM_000567 CRP EXON Missense_E103K variant.7769 1 159683735 [T/C] NM_000567 CRP EXON Nonsense_W85X newrs34672691 1 159683791 [A/G] NM_000567 CRP EXON Missense_Y67H newrs140571492 1 159683796 [T/C] NM_000567 CRP EXON Missense_R65H variant.7773 1 159683797 [A/G] NM_000567 CRP EXON Missense_R65C 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] rs3122012 1 159689323 [T/C] rs12079772 1 159690466 [A/C] rs2808635 1 159694209 [T/G] exm-rs7553007 1 159698549 [A/G] exm-rs11265260 1 159700039 [A/G] exm-rs11265263 1 159710517 [A/C] rs4285692 1 159714149 [T/C] rs4656849 1 159723521 [A/G] rs12094103 1 159723619 [A/G] rs11265269 1 159728127 [T/C] rs4604689 1 159736139 [A/G] rs6427494 1 159738719 [T/G] rs7519478 1 159743845 [T/C] rs3806185 1 159748886 [T/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 indel.7778 1 159752088 [I/D] NM_017823 DUSP23 EXON exm-rs4233356 1 159753183 [A/G] rs4630124 1 159765249 [T/C] rs11265281 1 159772751 [A/G] NM_001004310 FCRL6 Silent 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 variant.7784 1 159780007 [A/G] NM_001004310 FCRL6 Silent rs6656979 1 159782181 [A/C] NM_001004310 FCRL6 Silent 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 var_1_159784082 1 159784082 [T/G] NM_001004310 FCRL6 EXON Missense_A383S variant.7788 1 159784083 [A/G] NM_001004310 FCRL6 Silent variant.7790 1 159785329 [A/C] NM_001004310 FCRL6 EXON Missense_S395R 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 rs10158752 1 159801074 [A/G] NM_020125 SLAMF8 Silent 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 rs2501312 1 159808286 [A/G] NM_001134233 C1orf204 Silent exm114602 1 159810633 [T/C] NM_001134233 C1orf204 EXON Missense_A156T rs2501346 1 159818304 [T/C] NM_001134233 C1orf204 Silent rs11807946 1 159824205 [T/C] NM_001134233,NM_001013661 C1orf204,VSIG8 EXON Silent,Silent 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 rs2501332 1 159835673 [T/G] rs2494515 1 159839971 [T/C] rs11265289 1 159842103 [T/C] exm1721997 1 159842304 [T/C] NM_012337 CCDC19 EXON Missense_N543D variant.7805 1 159842729 [T/C] NM_012337 CCDC19 Silent 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 rs16842786 1 159852092 [T/G] NM_012337 CCDC19 Silent rs6671929 1 159853139 [A/G] NM_012337 CCDC19 Silent rs12566514 1 159853664 [T/C] NM_012337 CCDC19 Silent variant.7808 1 159854221 [A/G] NM_012337 CCDC19 Silent 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 rs4656856 1 159859392 [T/C] NM_012337 CCDC19 Silent exm114760 1 159860322 [A/G] NM_012337 CCDC19 EXON Missense_R74C exm114763 1 159860369 [T/C] NM_012337 CCDC19 EXON Missense_R58Q rs10752631 1 159862153 [T/C] NM_012337 CCDC19 Silent exm114766 1 159863011 [T/C] NM_012337 CCDC19 EXON Missense_V30M exm114768 1 159863028 [T/C] NM_012337 CCDC19 EXON Missense_R24H rs2501319 1 159868546 [T/C] NM_012337 CCDC19 Silent rs7522000 1 159880660 [T/C] 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 rs7543462 1 159898913 [A/G] NM_020789,NM_001135050 IGSF9,IGSF9 Silent,Silent 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 rs10908750 1 159906156 [A/G] NM_020789,NM_001135050 IGSF9,IGSF9 Silent,Silent 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 newrs182177421 1 159921549 [A/G] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Silent,Nonsense_R258X,Nonsense_R167X exm115015 1 159921606 [T/C] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Synonymous_P102P,Missense_K239E,Missense_K148E exm115026 1 159922175 [T/C] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Silent,Missense_E181K,Silent exm115030 1 159922226 [C/G] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Silent,Missense_D164H,Silent rs2249707 1 159922959 [T/C] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 Silent,Silent,Silent variant.7824 1 159923098 [T/C] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 Silent,Silent,Silent exm115035 1 159923111 [T/G] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Silent,Missense_I127L,Missense_I127L indel.7825 1 159923127 [D/I] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON exm115036 1 159923141 [A/G] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Silent,Missense_S117P,Missense_S117P exm115040 1 159923234 [T/C] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Silent,Missense_V86M,Missense_V86M exm115045 1 159923350 [T/C] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Missense_D47G,Missense_D47G,Missense_D47G exm115047 1 159923395 [A/G] NM_001146173,NM_033438,NM_001146172 SLAMF9,SLAMF9,SLAMF9 EXON Missense_A32V,Missense_A32V,Missense_A32V rs2840591 1 159940000 [A/G] NR_038849 LOC100505633 Silent rs4378200 1 159941535 [A/G] NR_038849 LOC100505633 Silent rs16831222 1 159958368 [A/G] rs2789428 1 159959505 [A/G] rs2185214 1 159976751 [A/G] rs2211107 1 159977542 [T/C] rs6669066 1 159986521 [A/C] rs11577096 1 159987008 [T/C] rs6659129 1 159995633 [A/G] indel.7827 1 160000273 [D/I] NM_145167 PIGM EXON 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 var_1_160000683 1 160000683 [A/C] NM_145167 PIGM EXON Nonsense_E283X indel.7829 1 160000840 [I/D] NM_145167 PIGM EXON exm115081 1 160001012 [T/C] NM_145167 PIGM EXON Missense_Y173C exm115093 1 160001300 [A/G] NM_145167 PIGM EXON Missense_T77I rs17367150 1 160006809 [A/G] exm115109 1 160011262 [T/C] NM_002241 KCNJ10 EXON Missense_K354R exm115111 1 160011280 [T/C] NM_002241 KCNJ10 EXON Missense_R348H newrs137853074 1 160011281 [A/G] NM_002241 KCNJ10 EXON Missense_R348C 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 rs1186685 1 160029212 [A/G] NM_002241 KCNJ10 Silent rs11265313 1 160029456 [A/G] NM_002241 KCNJ10 Silent rs1321650 1 160045858 [A/G] rs11265318 1 160060272 [A/G] rs12408242 1 160061934 [T/C] NM_001206665,NM_052868 IGSF8,IGSF8 Silent,Silent 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 rs2369406 1 160064418 [T/C] NM_001206665,NM_052868 IGSF8,IGSF8 Silent,Silent 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 rs10908753 1 160075437 [T/G] exm115295 1 160090708 [T/A] NM_000702 ATP1A2 EXON Missense_Y9N exm115300 1 160091016 [A/G] NM_000702 ATP1A2 EXON Missense_R51H rs2753267 1 160092121 [A/G] NM_000702 ATP1A2 Silent exm115311 1 160093206 [T/C] NM_000702 ATP1A2 EXON Synonymous_N127N newrs150907359 1 160093846 [A/G] NM_000702 ATP1A2 EXON Synonymous_Q165Q rs1023421 1 160094644 [A/G] NM_000702 ATP1A2 Silent rs6695366 1 160097666 [A/G] NM_000702 ATP1A2 Silent 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 rs1046995 1 160112741 [T/C] NM_000702 ATP1A2 EXON Silent rs12753283 1 160114070 [A/C] 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 indel.7845 1 160121909 [I/D] NM_144699 ATP1A4 EXON 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 rs6427504 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 indel.7849 1 160129318 [I/D] NM_144699 ATP1A4 rs7551983 1 160129495 [A/G] NM_144699 ATP1A4 Silent rs7554223 1 160133177 [A/G] NM_144699 ATP1A4 Silent exm115467 1 160133954 [T/C] NM_144699 ATP1A4 EXON Missense_R263W exm115468 1 160133955 [A/G] NM_144699 ATP1A4 EXON Missense_R263Q exm115469 1 160133956 [G/C] NM_144699 ATP1A4 EXON Synonymous_R263R exm2250055 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 variant.7850 1 160136802 [T/C] NM_144699 ATP1A4 EXON Nonsense_R431X variant.7851 1 160136867 [A/G] NM_144699 ATP1A4 EXON Synonymous_K452K 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 newrs190411003 1 160141497 [T/C] NM_144699 ATP1A4 EXON Nonsense_R602X 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 rs911228 1 160145298 [A/G] NM_144699 ATP1A4 Silent rs881291 1 160146173 [T/C] NM_144699 ATP1A4 Silent exm115572 1 160146341 [A/T] NM_144699 ATP1A4 EXON Missense_T847S variant.7855 1 160146352 [A/G] NM_144699 ATP1A4 EXON Synonymous_L850L rs6693877 1 160146790 [T/G] NM_144699 ATP1A4 Silent 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 rs11265346 1 160148810 [T/C] NM_144699,NM_001001734 ATP1A4,ATP1A4 Silent,Silent newrs137966369 1 160151486 [T/C] NM_144699,NM_001001734 ATP1A4,ATP1A4 EXON Nonsense_R917X,Nonsense_R53X exm115593 1 160151799 [A/G] NM_144699,NM_001001734 ATP1A4,ATP1A4 EXON Missense_A983T,Missense_A119T rs1935306 1 160152057 [T/C] NM_144699,NM_001001734 ATP1A4,ATP1A4 Silent,Silent exm115598 1 160156133 [T/C] NM_144699,NM_001001734 ATP1A4,ATP1A4 EXON Missense_L1013F,Missense_L149F newrs139435184 1 160156460 [T/G] NM_144699,NM_001001734 ATP1A4,ATP1A4 Silent,Silent var_1_160156466 1 160156467 [I/D] NM_144699,NM_001001734 ATP1A4,ATP1A4 EXON 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 rs3747623 1 160163509 [T/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 variant.7865 1 160163637 [T/G] NM_001231 CASQ1 EXON Missense_D155E exm115642 1 160164827 [T/C] NM_001231 CASQ1 EXON Missense_I164T variant.7867 1 160164847 [T/C] NM_001231 CASQ1 EXON Nonsense_Q171X variant.7868 1 160164913 [T/C] NM_001231 CASQ1 EXON Missense_H193Y exm115652 1 160165695 [T/G] NM_001231 CASQ1 EXON Missense_K220N variant.7870 1 160168522 [A/G] NM_001231 CASQ1 Silent exm115664 1 160168800 [G/C] NM_001231 CASQ1 EXON Missense_P314R newrs150143470 1 160169695 [T/G] NM_001231 CASQ1 EXON Nonsense_G347X 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,NM_015726,NR_028104 DCAF8,DCAF8,DCAF8 EXON Silent,Missense_I470V,Silent exm1722483 1 160201129 [T/C] NR_028103,NM_015726,NR_028104 DCAF8,DCAF8,DCAF8 EXON Silent,Missense_N343S,Silent variant.7875 1 160208397 [T/C] NR_028103,NM_015726,NR_028104 DCAF8,DCAF8,DCAF8 EXON Silent,Synonymous_K288K,Silent exm115749 1 160209852 [A/G] NR_028103,NM_015726,NR_028104,NR_028105,NR_028106 DCAF8,DCAF8,DCAF8,DCAF8,DCAF8 EXON Silent,Missense_R120C,Silent,Silent,Silent exm115750 1 160209860 [T/C] NR_028103,NM_015726,NR_028104,NR_028105,NR_028106 DCAF8,DCAF8,DCAF8,DCAF8,DCAF8 EXON Silent,Missense_R117H,Silent,Silent,Silent exm115757 1 160210035 [A/G] NR_028103,NM_015726,NR_028104,NR_028105,NR_028106 DCAF8,DCAF8,DCAF8,DCAF8,DCAF8 EXON Silent,Missense_R59C,Silent,Silent,Silent rs6683177 1 160214213 [A/G] NR_028103,NM_015726,NR_028104,NR_028105,NR_028106 DCAF8,DCAF8,DCAF8,DCAF8,DCAF8 Silent,Silent,Silent,Silent,Silent exm115762 1 160249362 [A/G] NM_002857,NR_036493,NR_036492,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Synonymous_G293G,Silent,Silent,Missense_V276A exm115763 1 160249363 [C/G] NM_002857,NR_036493,NR_036492,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Missense_G293A,Silent,Silent,Missense_V276L exm115766 1 160249384 [G/C] NM_002857,NR_036493,NR_036492,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Missense_S286W,Silent,Silent,Silent exm115789 1 160251925 [A/C] NM_002857,NR_036493,NR_036492,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Missense_D166E,Silent,Silent,Missense_D166E exm115799 1 160252291 [A/G] NM_002857,NR_036493,NR_036492,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Synonymous_G116G,Silent,Silent,Synonymous_G116G exm115805 1 160252826 [A/G] NM_002857,NR_036493,NR_036492,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Missense_A85V,Silent,Silent,Missense_A85V exm115810 1 160253385 [A/G] NM_002857,NR_036493,NR_036492,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Missense_P39S,Silent,Silent,Missense_P39S exm115812 1 160253424 [T/G] NM_002857,NR_036493,NR_036492,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Missense_L26I,Silent,Silent,Missense_L26I exm115818 1 160254899 [T/C] NM_002857,NR_036493,NR_036492,NM_001193644 PEX19,PEX19,PEX19,PEX19 EXON Missense_E6K,Silent,Silent,Missense_E6K 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 variant.7879 1 160267128 [T/C] NM_004371,NM_001098398 COPA,COPA Silent,Silent exm115869 1 160267162 [T/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_R745H,Missense_R754H variant.7880 1 160275478 [T/C] NM_004371,NM_001098398 COPA,COPA EXON Missense_A510T,Missense_E510K variant.7881 1 160276139 [T/G] NM_004371,NM_001098398 COPA,COPA Silent,Silent rs7522166 1 160276709 [T/C] NM_004371,NM_001098398 COPA,COPA Silent,Silent 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 rs1802778 1 160303416 [A/G] NM_004371,NM_001098398 COPA,COPA EXON Synonymous_N121N,Synonymous_N121N variant.7882 1 160309694 [T/C] NM_004371,NM_001098398 COPA,COPA Silent,Silent 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 exm116012 1 160326112 [C/G] NM_015331 NCSTN EXON Synonymous_L538L exm2250058 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 rs7521304 1 160342015 [T/G] NM_005598 NHLH1 EXON Silent rs11265378 1 160342944 [A/G] rs11265381 1 160349098 [T/G] rs12739519 1 160364947 [A/G] 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 variant.7885 1 160390209 [A/G] NM_020335 VANGL2 EXON Missense_R270H exm116104 1 160390242 [A/G] NM_020335 VANGL2 EXON Missense_H281R exm116106 1 160390284 [A/G] NM_020335 VANGL2 EXON Missense_K295R rs6427518 1 160391398 [T/C] NM_020335 VANGL2 Silent rs12085898 1 160392393 [T/C] NM_020335 VANGL2 Silent 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 rs10494343 1 160402539 [T/C] rs11265399 1 160406125 [A/G] rs10908780 1 160407840 [T/C] rs4656258 1 160408563 [A/G] rs11585691 1 160420036 [T/C] rs4656264 1 160427955 [T/C] rs2369611 1 160452218 [A/G] variant.7887 1 160458878 [T/C] NM_001184714,NM_052931,NM_001184716,NM_001184715 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Synonymous_R293R,Synonymous_R292R,Synonymous_R182R,Synonymous_R243R exm116146 1 160458901 [T/C] NM_001184714,NM_052931,NM_001184716,NM_001184715 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Missense_A286T,Missense_A285T,Missense_A175T,Missense_A236T rs12119876 1 160459909 [A/C] NM_001184714,NM_052931,NM_001184716,NM_001184715 SLAMF6,SLAMF6,SLAMF6,SLAMF6 Silent,Silent,Silent,Silent exm116149 1 160459989 [A/G] NM_001184714,NM_052931,NM_001184716,NM_001184715 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Synonymous_P265P,Synonymous_P265P,Synonymous_P154P,Synonymous_P216P exm116150 1 160460002 [T/C] NM_001184714,NM_052931,NM_001184716,NM_001184715 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Missense_R261Q,Missense_R261Q,Missense_R150Q,Missense_R212Q variant.7888 1 160460910 [A/G] NM_001184714,NM_052931,NM_001184716,NM_001184715 SLAMF6,SLAMF6,SLAMF6,SLAMF6 Silent,Silent,Silent,Silent exm116157 1 160460919 [A/G] NM_001184714,NM_052931,NM_001184716,NM_001184715 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Synonymous_C214C,Synonymous_C214C,Synonymous_C103C,Synonymous_C165C exm2250059 1 160460919 [A/G] NM_001184714,NM_052931,NM_001184716,NM_001184715 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Synonymous_C214C,Synonymous_C214C,Synonymous_C103C,Synonymous_C165C exm116167 1 160465934 [T/G] NM_001184714,NM_052931,NM_001184716,NM_001184715 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Missense_K100T,Missense_K100T,Silent,Missense_K51T exm116168 1 160466004 [T/C] NM_001184714,NM_052931,NM_001184716,NM_001184715 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Missense_V77M,Missense_V77M,Silent,Missense_V28M exm116171 1 160492966 [T/C] NM_001184714,NM_052931,NM_001184716,NM_001184715 SLAMF6,SLAMF6,SLAMF6,SLAMF6 EXON Missense_Q6R,Missense_Q6R,Missense_Q6R,Missense_Q6R rs7528976 1 160499961 [T/C] rs1503859 1 160513183 [A/G] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Silent,Silent,Silent,Silent rs6427528 1 160516308 [A/G] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Silent,Silent,Silent,Silent rs1055880 1 160517692 [T/C] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Silent,Silent,Silent,Silent exm116177 1 160518056 [A/G] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Silent,Missense_I326T,Missense_I212T,Missense_I343T exm116180 1 160518074 [T/C] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Silent,Missense_G320E,Missense_G206E,Missense_G337E indel.7890 1 160518106 [D/I] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON variant.7891 1 160519728 [A/G] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Nonsense_R268X,Synonymous_S300S,Synonymous_S186S,Synonymous_S317S exm116187 1 160519728 [A/G] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Nonsense_R268X,Synonymous_S300S,Synonymous_S186S,Synonymous_S317S exm116191 1 160520771 [T/C] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Silent,Missense_Q272R,Missense_Q158R,Missense_Q289R exm116192 1 160520774 [A/G] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Silent,Missense_T271I,Missense_T157I,Missense_T288I var_1_160523157 1 160523158 [I/D] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON exm116199 1 160523186 [A/C] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Missense_L248V,Missense_L248V,Missense_L134V,Missense_L248V exm116202 1 160523243 [T/C] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Missense_V229M,Missense_V229M,Missense_V115M,Missense_V229M exm116204 1 160523264 [A/G] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Missense_H222Y,Missense_H222Y,Missense_H108Y,Missense_H222Y exm116206 1 160523270 [A/G] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Missense_R220C,Missense_R220C,Missense_R106C,Missense_R220C exm116214 1 160523750 [A/G] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Missense_T192M,Missense_T192M,Missense_T78M,Missense_T192M exm116219 1 160523860 [A/G] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Synonymous_C155C,Synonymous_C155C,Synonymous_C41C,Synonymous_C155C indel.7895 1 160523916 [I/D] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON variant.7896 1 160535193 [T/C] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 Silent,Silent,Silent,Silent variant.7897 1 160535194 [A/G] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Missense_R130C,Missense_R130C,Silent,Missense_R130C exm1722830 1 160535331 [T/C] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Missense_R84Q,Missense_R84Q,Silent,Missense_R84Q exm116230 1 160535367 [A/G] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Missense_P72L,Missense_P72L,Silent,Missense_P72L exm116233 1 160535493 [T/A] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 EXON Missense_N30I,Missense_N30I,Silent,Missense_N30I rs7551113 1 160537038 [A/C] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 Silent,Silent,Silent,Silent rs10908787 1 160548247 [A/G] NM_001184881,NM_003874,NM_001184882,NM_001184879 CD84,CD84,CD84,CD84 Silent,Silent,Silent,Silent rs977020 1 160549579 [A/G] rs6692382 1 160551592 [A/G] rs7543788 1 160559549 [A/G] rs1061217 1 160580015 [A/G] NM_003037 SLAMF1 EXON Silent exm116241 1 160580549 [T/G] NM_003037 SLAMF1 EXON Missense_P333T rs1394079 1 160581306 [T/C] NM_003037 SLAMF1 Silent 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 rs16832283 1 160591997 [T/C] NM_003037 SLAMF1 Silent exm116253 1 160593966 [A/G] NM_003037 SLAMF1 EXON Missense_P237L rs6704124 1 160602248 [T/C] NM_003037 SLAMF1 Silent exm116262 1 160604544 [G/C] NM_003037 SLAMF1 EXON Missense_P187A indel.7899 1 160604682 [D/I] NM_003037 SLAMF1 EXON exm116266 1 160607037 [A/G] NM_003037 SLAMF1 EXON Missense_M120T indel.7900 1 160607191 [I/D] NM_003037 SLAMF1 EXON 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 rs2295612 1 160616703 [T/G] NM_003037 SLAMF1 EXON Missense_F11L exm116289 1 160616729 [T/G] NM_003037 SLAMF1 EXON Missense_P3T rs11265461 1 160630143 [T/C] rs6427540 1 160634588 [T/C] rs1553456 1 160648396 [A/G] 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 rs10489637 1 160652476 [A/G] NM_001778,NM_001256030 CD48,CD48 Silent,Silent 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 rs507260 1 160670454 [T/C] NM_001778,NM_001256030 CD48,CD48 Silent,Silent rs10489639 1 160679527 [A/G] NM_001778,NM_001256030 CD48,CD48 Silent,Silent exm116337 1 160681531 [A/G] NM_001778,NM_001256030 CD48,CD48 EXON Missense_S8L,Missense_S8L rs352694 1 160687799 [A/G] rs503832 1 160696304 [T/C] rs983494 1 160703965 [A/G] rs549471 1 160705619 [T/C] exm116342 1 160709111 [A/G] NM_021181 SLAMF7 EXON Missense_C7Y rs535622 1 160710745 [T/C] NM_021181 SLAMF7 Silent exm116346 1 160717985 [T/G] NM_021181 SLAMF7 EXON Synonymous_G19G exm1723187 1 160718155 [A/G] NM_021181 SLAMF7 EXON Missense_R76H indel.7902 1 160718218 [I/D] NM_021181 SLAMF7 EXON 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 variant.7905 1 160720187 [A/G] NM_021181 SLAMF7 EXON Nonsense_W248X 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 rs489286 1 160722550 [A/G] NM_021181 SLAMF7 Silent exm116394 1 160722900 [A/C] NM_021181 SLAMF7 EXON Missense_E314A rs528095 1 160738146 [T/C] rs11265485 1 160764759 [T/C] indel.7908 1 160766064 [D/I] NM_001261457,NM_002348,NM_001033667,NM_001261456 LY9,LY9,LY9,LY9 EXON rs3904492 1 160766925 [T/C] NM_001261457,NM_002348,NM_001033667,NM_001261456 LY9,LY9,LY9,LY9 Silent,Silent,Silent,Silent exm116404 1 160769567 [A/C] NM_001261457,NM_002348,NM_001033667,NM_001261456 LY9,LY9,LY9,LY9 EXON Nonsense_S50X,Nonsense_S50X,Nonsense_S50X,Nonsense_S50X exm116412 1 160769636 [T/C] NM_001261457,NM_002348,NM_001033667,NM_001261456 LY9,LY9,LY9,LY9 EXON Missense_T73I,Missense_T73I,Missense_T73I,Missense_T73I exm1723226 1 160769650 [A/G] NM_001261457,NM_002348,NM_001033667,NM_001261456 LY9,LY9,LY9,LY9 EXON Missense_V78I,Missense_V78I,Missense_V78I,Missense_V78I exm116415 1 160769666 [T/C] NM_001261457,NM_002348,NM_001033667,NM_001261456 LY9,LY9,LY9,LY9 EXON Missense_P83L,Missense_P83L,Missense_P83L,Missense_P83L exm116416 1 160769670 [T/A] NM_001261457,NM_002348,NM_001033667,NM_001261456 LY9,LY9,LY9,LY9 EXON Missense_K84N,Missense_K84N,Missense_K84N,Missense_K84N exm116417 1 160769690 [A/G] NM_001261457,NM_002348,NM_001033667,NM_001261456 LY9,LY9,LY9,LY9 EXON Missense_R91H,Missense_R91H,Missense_R91H,Missense_R91H newrs12049314 1 160769734 [T/C] NM_001261457,NM_002348,NM_001033667,NM_001261456 LY9,LY9,LY9,LY9 EXON Nonsense_R106X,Nonsense_R106X,Nonsense_R106X,Nonsense_R106X exm116418 1 160769735 [A/G] NM_001261457,NM_002348,NM_001033667,NM_001261456 LY9,LY9,LY9,LY9 EXON Missense_R106Q,Missense_R106Q,Missense_R106Q,Missense_R106Q exm116422 1 160769866 [A/G] NM_001261457,NM_002348,NM_001033667,NM_001261456 LY9,LY9,LY9,LY9 EXON Missense_V150I,Missense_V150I,Missense_V150I,Missense_V150I rs4656932 1 160779495 [A/G] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 Silent,Silent,Silent indel.7911 1 160783529 [I/D] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON exm116437 1 160783557 [A/C] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Missense_P196T,Missense_P196T,Missense_P196T exm116442 1 160783603 [A/G] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Missense_R211Q,Missense_R211Q,Missense_R211Q exm116443 1 160783621 [A/C] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Missense_D217A,Missense_D217A,Missense_D217A exm1723269 1 160783678 [T/C] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Missense_V236A,Missense_V236A,Missense_V236A exm116452 1 160784287 [A/G] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Missense_A270T,Missense_A270T,Missense_A270T exm116453 1 160784302 [T/C] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Missense_R275W,Missense_R275W,Missense_R275W exm1723273 1 160784494 [A/G] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Missense_V339M,Missense_V339M,Missense_V339M exm116461 1 160784549 [A/T] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Missense_Y357F,Missense_Y357F,Missense_Y357F exm116462 1 160784551 [T/C] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Nonsense_R358X,Missense_R358C,Missense_R358C exm116465 1 160786385 [T/C] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Silent,Synonymous_R358R,Synonymous_R358R exm116471 1 160786464 [A/G] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Silent,Missense_V385M,Missense_V385M exm1723279 1 160786549 [A/G] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Silent,Missense_N413S,Missense_N413S rs560681 1 160786670 [A/G] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 Silent,Silent,Silent exm116483 1 160788067 [A/G] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Missense_V378I,Missense_V468I,Missense_V468I exm116484 1 160788068 [T/C] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Missense_V378A,Missense_V468A,Missense_V468A exm116486 1 160788097 [T/C] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Nonsense_R388X,Nonsense_R478X,Nonsense_R478X indel.7915 1 160788099 [I/D] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON rs3817407 1 160788131 [T/C] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 Silent,Silent,Silent rs571841 1 160791411 [T/C] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 Silent,Silent,Silent exm116496 1 160793293 [T/C] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Nonsense_Q423X,Nonsense_Q513X,Silent exm116509 1 160793560 [A/G] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Missense_M512V,Missense_M602V,Missense_M588V exm116520 1 160797604 [T/G] NM_001261457,NM_002348,NM_001261456 LY9,LY9,LY9 EXON Missense_X566G,Missense_X656G,Missense_X642G exm116527 1 160801162 [A/C] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Missense_L358R,Missense_L266R,Missense_L363R exm116528 1 160801172 [A/G] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Missense_R355C,Missense_R263C,Missense_R360C newrs138354575 1 160801181 [A/G] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Nonsense_R352X,Nonsense_R260X,Nonsense_R357X variant.7919 1 160801214 [A/C] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Nonsense_G341X,Nonsense_G249X,Nonsense_G346X exm116531 1 160801214 [A/C] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Nonsense_G341X,Nonsense_G249X,Nonsense_G346X exm1723306 1 160802314 [T/C] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Missense_E338K,Missense_E246K,Missense_E343K variant.7921 1 160803836 [T/C] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 Silent,Silent,Silent exm116537 1 160803848 [A/G] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Missense_S318F,Missense_S226F,Missense_S323F exm1723312 1 160806025 [A/G] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Missense_P285L,Missense_P193L,Missense_P290L exm2268771 1 160807715 [T/C] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 Silent,Silent,Silent exm116556 1 160808810 [T/C] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Missense_I229V,Missense_I137V,Missense_I234V rs6671710 1 160809285 [A/G] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 Silent,Silent,Silent exm1723320 1 160811001 [A/C] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Missense_Q218H,Silent,Missense_Q223H exm116561 1 160811120 [A/G] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Missense_Y179H,Silent,Missense_Y184H exm116564 1 160811374 [G/C] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Missense_D127H,Missense_E127Q,Missense_E127Q exm116565 1 160811488 [T/C] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Missense_N89D,Missense_N89D,Missense_N89D exm116569 1 160811558 [C/G] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Missense_H65Q,Missense_H65Q,Missense_H65Q exm116571 1 160811621 [T/C] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Missense_I44M,Missense_I44M,Missense_I44M exm116574 1 160811647 [A/G] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Missense_P36S,Missense_P36S,Missense_P36S rs549565 1 160816942 [A/G] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 Silent,Silent,Silent rs12038600 1 160828602 [T/C] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 Silent,Silent,Silent exm116583 1 160832463 [A/C] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Missense_L2R,Missense_L2R,Missense_L2R rs12036607 1 160832646 [A/G] NM_016382,NM_001166664,NM_001166663 CD244,CD244,CD244 EXON Silent,Silent,Silent rs4656945 1 160838107 [T/C] rs4656947 1 160840298 [T/C] rs1333062 1 160846284 [T/G] 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 newrs148939374 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 rs2039415 1 160854445 [T/C] NM_017625 ITLN1 Silent indel.7930 1 160854663 [I/D] NM_017625 ITLN1 EXON rs10908810 1 160876923 [A/G] rs11265519 1 160878913 [A/C] rs4656279 1 160886294 [A/G] rs11265524 1 160892144 [A/C] rs10908813 1 160895847 [A/G] rs6701920 1 160914917 [A/G] NM_080878 ITLN2 EXON Silent 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 rs1556519 1 160917902 [T/C] NM_080878 ITLN2 Silent variant.7932 1 160919835 [T/C] NM_080878 ITLN2 Silent variant.7933 1 160919836 [T/G] NM_080878 ITLN2 EXON Synonymous_R241R 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 rs4656971 1 160921230 [T/G] NM_080878 ITLN2 Silent exm116727 1 160922421 [T/G] NM_080878 ITLN2 EXON Missense_H61P exm116737 1 160924178 [T/C] NM_080878 ITLN2 EXON Synonymous_A26A rs2255852 1 160927045 [T/C] rs1999248 1 160927727 [T/G] rs12403334 1 160937964 [A/G] rs2250174 1 160950966 [T/C] rs3007157 1 160957494 [A/G] exm2273340 1 160968609 [A/G] NM_016946 F11R EXON Silent exm116750 1 160968873 [T/C] NM_016946 F11R EXON Missense_S275N variant.7935 1 160969181 [A/C] NM_016946 F11R Silent 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 variant.7940 1 160971074 [T/C] NM_016946 F11R Silent variant.7941 1 160971075 [A/G] NM_016946 F11R EXON Missense_P45S rs2481084 1 160989614 [T/C] NM_016946 F11R Silent variant.7942 1 160990799 [T/C] NM_016946 F11R Silent rs11265544 1 161006019 [A/C] rs3737787 1 161009523 [A/G] NM_207005,NM_007122,NM_001276373 USF1,USF1,USF1 EXON Silent,Silent,Silent exm2273341 1 161009523 [A/G] NM_207005,NM_007122,NM_001276373 USF1,USF1,USF1 EXON Silent,Silent,Silent exm116850 1 161011931 [T/G] NM_207005,NM_007122,NM_001276373 USF1,USF1,USF1 EXON Missense_Y25S,Missense_Y84S,Missense_Y84S exm116857 1 161012448 [T/G] NM_207005,NM_007122,NM_001276373 USF1,USF1,USF1 EXON Silent,Missense_T24N,Missense_T24N rs2073653 1 161012760 [T/C] NM_207005,NM_007122,NM_001276373 USF1,USF1,USF1 Silent,Silent,Silent rs2516837 1 161014727 [A/G] NM_207005,NM_007122,NM_001276373 USF1,USF1,USF1 EXON Silent,Silent,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 indel.7947 1 161018566 [I/D] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 EXON 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 rs10797092 1 161037042 [A/C] NM_181720,NM_001025598 ARHGAP30,ARHGAP30 Silent,Silent 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 rs4656978 1 161043764 [A/G] NM_030916 PVRL4 Silent 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 variant.7957 1 161044422 [A/G] NM_030916 PVRL4 EXON Nonsense_Q327X 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_033386,NR_033385,NM_001007255,NM_152366 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_G14R,Missense_G14R exm117103 1 161068428 [A/G] NR_033386,NR_033385,NM_001007255,NM_152366 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_E35K,Missense_E35K exm2273712 1 161068441 [A/G] NR_033386,NR_033385,NM_001007255,NM_152366 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_R39Q,Missense_R39Q exm117112 1 161068749 [A/G] NR_033386,NR_033385,NM_001007255,NM_152366 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_D142N,Missense_D142N exm117119 1 161068836 [A/C] NR_033386,NR_033385,NM_001007255,NM_152366 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_S171R,Missense_S171R exm117127 1 161069277 [A/G] NR_033386,NR_033385,NM_001007255,NM_152366 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Nonsense_W223X,Nonsense_W223X exm117130 1 161069446 [T/G] NR_033386,NR_033385,NM_001007255,NM_152366 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_W255C,Missense_G249V variant.7964 1 161069526 [A/G] NR_033386,NR_033385,NM_001007255,NM_152366 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Nonsense_W282X,Missense_G276R variant.7965 1 161069529 [T/G] NR_033386,NR_033385,NM_001007255,NM_152366 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_R283I,Nonsense_E277X exm117135 1 161069544 [A/G] NR_033386,NR_033385,NM_001007255,NM_152366 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Missense_S288N,Missense_A282T exm117137 1 161069587 [G/C] NR_033386,NR_033385,NM_001007255,NM_152366 KLHDC9,KLHDC9,KLHDC9,KLHDC9 Silent,Silent,Silent,Silent variant.7967 1 161069849 [A/G] NR_033386,NR_033385,NM_001007255,NM_152366 KLHDC9,KLHDC9,KLHDC9,KLHDC9 Silent,Silent,Silent,Silent exm117138 1 161069881 [T/C] NR_033386,NR_033385,NM_001007255,NM_152366 KLHDC9,KLHDC9,KLHDC9,KLHDC9 EXON Silent,Silent,Silent,Missense_P306L exm117143 1 161070525 [T/C] NM_012394 PFDN2 EXON Missense_N138S exm117154 1 161072149 [T/C] NM_012394 PFDN2 EXON Missense_N31S rs4233365 1 161074601 [A/G] NM_012394 PFDN2 Silent newrs76502631 1 161088000 [A/G] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Silent,Silent,Silent,Silent 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 indel.7973 1 161089151 [I/D] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON 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 variant.7974 1 161089665 [T/C] NM_001185092,NM_005600,NM_001185093,NM_001185094 NIT1,NIT1,NIT1,NIT1 EXON Nonsense_Q172X,Nonsense_Q172X,Nonsense_Q157X,Nonsense_Q136X 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 rs11589567 1 161116022 [T/G] exm117240 1 161123804 [T/C] NM_016406 UFC1 EXON Missense_T6M var_1_161126779 1 161126779 [T/C] NM_016406 UFC1 EXON Nonsense_R55X 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 indel.7983 1 161127945 [D/I] NM_016406 UFC1 EXON 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 exm2250073 1 161131024 [T/C] NM_001014443,NM_012475 USP21,USP21 EXON Synonymous_D198D,Synonymous_D198D exm117300 1 161131024 [T/C] NM_001014443,NM_012475 USP21,USP21 EXON Synonymous_D198D,Synonymous_D198D 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 variant.7985 1 161134333 [T/C] NM_001014443,NM_012475 USP21,USP21 EXON Nonsense_R439X,Nonsense_R439X variant.7986 1 161134375 [T/C] NM_001014443,NM_012475 USP21,USP21 EXON Nonsense_Q453X,Nonsense_Q453X exm1723952 1 161136705 [A/G] NM_001122764,NM_000309 PPOX,PPOX EXON Missense_R23Q,Missense_R23Q exm117365 1 161138907 [T/G] NM_001122764,NM_000309 PPOX,PPOX EXON Missense_R247S,Missense_R247S exm117377 1 161139738 [A/G] NM_001122764,NM_000309 PPOX,PPOX EXON Missense_R304H,Missense_R304H variant.7993 1 161140754 [T/C] NM_001122764,NM_000309 PPOX,PPOX Silent,Silent variant.7994 1 161141620 [A/G] NM_001199874,NM_001199873,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Nonsense_R390X,Nonsense_R390X,Nonsense_R390X 1KG_1_161141636 1 161141636 [D/I] NM_001199874,NM_001199873,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON exm117409 1 161141673 [T/C] NM_001199874,NM_001199873,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Missense_R372H,Missense_R372H,Missense_R372H exm117411 1 161141691 [T/C] NM_001199874,NM_001199873,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Missense_R366H,Missense_R366H,Missense_R366H exm117422 1 161143440 [T/C] NM_001199874,NM_001199873,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Missense_N253S,Missense_N253S,Missense_N253S exm117424 1 161143685 [T/C] NM_001199874,NM_001199873,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Missense_R215H,Missense_R215H,Missense_R215H exm117440 1 161144965 [T/C] NM_001199874,NM_001199873,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Missense_E103K,Missense_E103K,Missense_E103K exm117444 1 161145627 [A/G] NM_001199874,NM_001199873,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Missense_P75L,Missense_P75L,Missense_P75L exm2250074 1 161145653 [A/C] NM_001199874,NM_001199873,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Synonymous_G66G,Synonymous_G66G,Synonymous_G66G exm117449 1 161145691 [T/C] NM_001199874,NM_001199873,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Missense_V54I,Missense_V54I,Missense_V54I variant.7997 1 161145733 [A/G] NM_001199874,NM_001199873,NM_003779 B4GALT3,B4GALT3,B4GALT3 EXON Nonsense_R40X,Nonsense_R40X,Nonsense_R40X rs4233366 1 161159147 [T/C] 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 variant.8004 1 161166325 [A/G] NM_005099 ADAMTS4 Silent 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 rs4589131 1 161167698 [T/G] NM_005099 ADAMTS4 Silent 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 variant.8007 1 161179385 [A/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Synonymous_K209K,Synonymous_K209K variant.8008 1 161179665 [T/C] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Nonsense_R216X,Nonsense_R216X 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 newrs35086265 1 161180482 [A/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_R323Q,Missense_R323Q exm117633 1 161180482 [A/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_R323Q,Missense_R323Q newrs150981760 1 161182152 [A/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_R333Q,Missense_R333Q exm117639 1 161183191 [C/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Missense_H380D,Missense_H380D newrs145959971 1 161183265 [A/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Synonymous_K404K,Synonymous_K404K exm117641 1 161183265 [A/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Synonymous_K404K,Synonymous_K404K variant.8014 1 161183487 [T/C] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Nonsense_R421X,Nonsense_R421X 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 newrs190184430 1 161183716 [A/G] NM_004550,NM_001166159 NDUFS2,NDUFS2 EXON Silent,Synonymous_T453T kgp25229862 1 161185124 [A/G] NM_004106 FCER1G EXON Missense_V5M exm1724093 1 161187790 [A/C] NM_004106 FCER1G EXON Missense_P22T exm1724095 1 161187847 [T/C] NM_004106 FCER1G EXON Missense_L41F indel.8017 1 161188715 [D/I] NM_004106 FCER1G EXON kgp9127248 1 161188893 [T/G] NM_004106 FCER1G EXON Silent GA019608 1 161189036 [A/C] NM_004106 FCER1G EXON Silent kgp15660894 1 161192251 [A/G] NM_001643 APOA2 EXON Synonymous_L83L exm117689 1 161192772 [T/C] NM_001643 APOA2 EXON Missense_V41M rs5082 1 161193683 [A/G] kgp5676881 1 161196166 [A/C] NM_032174 TOMM40L EXON Silent exm117709 1 161197734 [A/C] NM_032174 TOMM40L EXON Missense_T147P exm117715 1 161198021 [T/G] NM_032174 TOMM40L EXON Missense_V177G kgp15359363 1 161198097 [C/G] NM_032174 TOMM40L EXON Synonymous_S202S exm117728 1 161198530 [T/C] NM_032174 TOMM40L EXON Missense_A237V exm117729 1 161198605 [C/G] NM_032174 TOMM40L EXON Missense_R262T kgp15633823 1 161199028 [T/C] NM_032174 TOMM40L EXON Silent kgp24850470 1 161199175 [A/G] NM_032174 TOMM40L EXON Silent indel.8021 1 161199494 [I/D] NM_032174,NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON exm117735 1 161199503 [A/G] NM_032174,NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Missense_P287L,Missense_P331L,Silent,Silent,Silent,Silent,Missense_P302L,Silent,Missense_P297L,Missense_P330L,Silent,Missense_P306L,Missense_P258L kgp3104024 1 161199579 [A/G] NM_032174,NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2307414 1 161199694 [T/G] NM_032174,NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Missense_G275S/Missense_G275R,Missense_G280S/Missense_G280R,Silent,Silent,Missense_G318S/Missense_G318R,Missense_G323S/Missense_G323R,Missense_G285S/Missense_G285R,Missense_G246S/Missense_G246R,Silent,Missense_G290S/Missense_G290R,Silent,Silent,Missense_G314S/Missense_G314R,Silent,Silent kgp11406252 1 161199704 [T/C] NM_032174,NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Synonymous_A271A,Synonymous_A276A,Silent,Silent,Synonymous_A314A,Synonymous_A319A,Synonymous_A281A,Synonymous_A242A,Silent,Synonymous_A286A,Silent,Silent,Synonymous_A310A,Silent,Silent kgp15844928 1 161199781 [T/C] NM_032174,NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15238380 1 161199805 [A/G] NM_032174,NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15486946 1 161199892 [T/G] NM_032174,NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp25090928 1 161199957 [T/C] NM_032174,NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15701817 1 161200227 [T/C] NM_032174,NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp24747589 1 161200276 [A/G] NM_032174,NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15869681 1 161200320 [A/G] NM_032174,NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 TOMM40L,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent kgp15806888 1 161200603 [T/C] NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_R267Q,Missense_R272Q,Missense_R267H,Missense_R311H,Missense_R310Q,Missense_R315Q,Missense_R277Q,Missense_R238Q,Missense_R282H,Missense_R282Q,Missense_R277H,Missense_R310H,Missense_R306Q,Missense_R286H,Missense_R238H exm117751 1 161200604 [A/G] NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_R267W,Missense_R272W,Missense_R267C,Missense_R311C,Missense_R310W,Missense_R315W,Missense_R277W,Missense_R238W,Missense_R282C,Missense_R282W,Missense_R277C,Missense_R310C,Missense_R306W,Missense_R286C,Missense_R238C exm117754 1 161200618 [T/C] NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_R262Q,Missense_R267Q,Missense_R262Q,Missense_R306Q,Missense_R305Q,Missense_R310Q,Missense_R272Q,Missense_R233Q,Missense_R277Q,Missense_R277Q,Missense_R272Q,Missense_R305Q,Missense_R301Q,Missense_R281Q,Missense_R233Q variant.8024 1 161200682 [A/C] NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Nonsense_E241X,Nonsense_E246X,Nonsense_E241X,Nonsense_E285X,Nonsense_E284X,Nonsense_E289X,Nonsense_E251X,Nonsense_E212X,Nonsense_E256X,Nonsense_E256X,Nonsense_E251X,Nonsense_E284X,Nonsense_E280X,Nonsense_E260X,Nonsense_E212X exm117757 1 161200707 [A/G] NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Synonymous_D232D,Synonymous_D237D,Synonymous_D232D,Synonymous_D276D,Synonymous_D275D,Synonymous_D280D,Synonymous_D242D,Synonymous_D203D,Synonymous_D247D,Synonymous_D247D,Synonymous_D242D,Synonymous_D275D,Synonymous_D271D,Synonymous_D251D,Synonymous_D203D exm1724136 1 161200970 [A/G] NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Nonsense_R250X,Nonsense_R254X,Nonsense_R254X,Nonsense_R221X,Silent,Nonsense_R221X,Nonsense_R221X,Nonsense_R221X,Nonsense_R254X,Nonsense_R250X,Nonsense_R225X,Silent rs2307424 1 161202605 [A/G] NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Synonymous_P180P,Synonymous_P180P,Synonymous_P180P,Synonymous_P180P,Synonymous_P180P,Synonymous_P180P,Synonymous_P151P,Synonymous_P151P,Synonymous_P151P,Synonymous_P151P,Synonymous_P151P,Synonymous_P180P,Synonymous_P180P,Synonymous_P151P,Synonymous_P151P variant.8026 1 161202958 [A/C] NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm117780 1 161203015 [C/G] NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_L118V,Missense_L118V,Missense_L118V,Missense_L118V,Missense_L118V,Missense_L118V,Missense_L89V,Missense_L89V,Missense_L89V,Missense_L89V,Missense_L89V,Missense_L118V,Missense_L118V,Missense_L89V,Missense_L89V exm117783 1 161203078 [A/G] NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_R97W,Missense_R97W,Missense_R97W,Missense_R97W,Missense_R97W,Missense_R97W,Missense_R68W,Missense_R68W,Missense_R68W,Missense_R68W,Missense_R68W,Missense_R97W,Missense_R97W,Missense_R68W,Missense_R68W rs2307425 1 161203118 [T/C] NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Synonymous_S83S,Synonymous_S83S,Synonymous_S83S,Synonymous_S83S,Synonymous_S83S,Synonymous_S83S,Synonymous_S54S,Synonymous_S54S,Synonymous_S54S,Synonymous_S54S,Synonymous_S54S,Synonymous_S83S,Synonymous_S83S,Synonymous_S54S,Synonymous_S54S rs2501873 1 161204538 [T/C] NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm117792 1 161205693 [T/C] NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Missense_R61H,Missense_R61H,Missense_R61H,Missense_R61H,Missense_R61H,Missense_R61H,Missense_R32H,Missense_R32H,Missense_R32H,Missense_R32H,Missense_R32H,Missense_R61H,Missense_R61H,Missense_R32H,Missense_R32H 1KG_1_161205730 1 161205730 [D/I] NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON indel.8029 1 161205739 [D/I] NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON exm117803 1 161207840 [T/C] NM_001077471,NM_001077481,NM_001077474,NM_001077469,NM_001077480,NM_001077482,NM_001077479,NM_001077470,NM_001077476,NM_001077472,NM_001077477,NM_001077478,NM_005122,NM_001077473,NM_001077475 NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3,NR1I3 EXON Silent,Silent,Silent,Silent,Silent,Silent,Missense_K4R,Missense_K4R,Missense_K4R,Missense_K4R,Missense_K4R,Silent,Silent,Missense_K4R,Missense_K4R rs2502805 1 161209841 [T/C] rs7530560 1 161210729 [T/C] exm2268772 1 161210729 [T/C] rs12562860 1 161211678 [T/C] rs12029543 1 161215212 [T/G] rs2501875 1 161239471 [T/C] NM_001102566 PCP4L1 Silent exm117813 1 161254246 [A/G] NM_001102566 PCP4L1 EXON Missense_K61R exm-rs11265582 1 161255333 [T/C] rs4436408 1 161260215 [A/G] rs11265584 1 161261041 [T/C] rs4657015 1 161272441 [A/G] exm117820 1 161275906 [G/C] NM_000530 MPZ EXON Missense_G213R variant.8030 1 161276574 [T/C] NM_000530 MPZ EXON Synonymous_T124T exm117836 1 161277149 [A/G] NM_000530 MPZ EXON Missense_R45W rs11585941 1 161312656 [A/G] NM_001035513,NM_003001,NM_001035511,NM_001035512 SDHC,SDHC,SDHC,SDHC Silent,Silent,Silent,Silent rs16832866 1 161334648 [A/G] NM_001013625 C1orf192 EXON Silent exm117883 1 161334880 [A/G] NM_001013625 C1orf192 EXON Nonsense_Q137X indel.8034 1 161334921 [I/D] NM_001013625 C1orf192 EXON 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 variant.8035 1 161336292 [T/C] NM_001013625 C1orf192 Silent exm117899 1 161337631 [A/C] NM_001013625 C1orf192 Silent rs4077631 1 161360435 [T/C] rs12744234 1 161361979 [T/C] rs12745664 1 161370985 [A/G] rs13375736 1 161380911 [A/G] rs3922744 1 161394500 [T/C] rs10157070 1 161398477 [A/C] kgp10115500 1 161398568 [T/C] rs6698806 1 161456186 [T/G] rs4657039 1 161462728 [A/G] rs6696854 1 161463814 [T/C] exm-rs10800309 1 161472158 [A/G] variant.8037 1 161475315 [T/C] NM_021642,NM_001136219 FCGR2A,FCGR2A EXON Nonsense_Q20X,Nonsense_Q20X newrs148134119 1 161475798 [T/G] NM_021642,NM_001136219 FCGR2A,FCGR2A Silent,Silent exm117915 1 161476205 [A/G] NM_021642,NM_001136219 FCGR2A,FCGR2A EXON Missense_Q62R,Missense_Q63R exm117930 1 161479708 [A/G] NM_021642,NM_001136219 FCGR2A,FCGR2A EXON Missense_T154A,Missense_T155A exm117932 1 161479732 [A/C] NM_021642,NM_001136219 FCGR2A,FCGR2A EXON Missense_Q162K,Missense_Q163K rs1801274 1 161479745 [A/G] NM_021642,NM_001136219 FCGR2A,FCGR2A EXON Missense_H166R,Missense_H167R exm117933 1 161479745 [A/G] NM_021642,NM_001136219 FCGR2A,FCGR2A EXON Missense_H166R,Missense_H167R rs12129787 1 161492587 [T/C] 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 rs2099684 1 161500130 [A/G] exm118068 1 161512848 [T/C] NM_000569,NM_001127595,NM_001127596,NM_001127593,NM_001127592 FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A EXON Nonsense_W276X,Nonsense_W240X,Nonsense_W239X,Nonsense_W240X,Nonsense_W275X exm118082 1 161514566 [T/C] NM_000569,NM_001127595,NM_001127596,NM_001127593,NM_001127592 FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A EXON Missense_G204S,Missense_G168S,Missense_G167S,Missense_G168S,Missense_G203S exm118116 1 161518437 [G/C] NM_000569,NM_001127595,NM_001127596,NM_001127593,NM_001127592 FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A EXON Missense_E67D,Missense_E31D,Missense_E30D,Missense_E31D,Missense_E66D exm2250085 1 161519554 [T/C] NM_000569,NM_001127595,NM_001127596,NM_001127593,NM_001127592 FCGR3A,FCGR3A,FCGR3A,FCGR3A,FCGR3A EXON Synonymous_L27L,Silent,Silent,Silent,Synonymous_L27L exm2231671 1 161596027 [T/G] NM_001271036,NM_000570,NM_001271035,NM_001271037,NM_001244753 FCGR3B,FCGR3B,FCGR3B,FCGR3B,FCGR3B EXON Missense_A145D,Missense_A162D,Missense_A197D,Silent,Missense_A198D exm118209 1 161596168 [T/C] NM_001271036,NM_000570,NM_001271035,NM_001271037,NM_001244753 FCGR3B,FCGR3B,FCGR3B,FCGR3B,FCGR3B EXON Missense_R98Q,Missense_R115Q,Missense_R150Q,Silent,Missense_R151Q exm118256 1 161641187 [T/C] NM_001002275,NM_001002274,NM_001002273,NM_004001,NM_001190828 FCGR2B,FCGR2B,FCGR2B,FCGR2B,FCGR2B EXON Missense_P46S,Missense_P47S,Missense_P46S,Missense_P47S,Missense_P40S exm118303 1 161647148 [A/G] NM_001002275,NM_001002274,NM_001002273,NM_004001,NM_001190828 FCGR2B,FCGR2B,FCGR2B,FCGR2B,FCGR2B EXON Missense_K282R,Missense_K264R,Missense_K263R,Missense_K283R,Missense_K276R exm118304 1 161647270 [A/C] NM_001002275,NM_001002274,NM_001002273,NM_004001,NM_001190828 FCGR2B,FCGR2B,FCGR2B,FCGR2B,FCGR2B EXON Missense_E286A,Missense_E268A,Missense_E267A,Missense_E287A,Missense_E280A rs11801845 1 161653708 [T/G] NR_002595 RPL31P11 EXON Silent rs1340976 1 161661489 [A/C] rs4657090 1 161662484 [A/G] rs12078337 1 161669427 [A/C] rs1538971 1 161676394 [T/C] exm118314 1 161677004 [T/A] NM_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 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_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_L24F,Missense_L24F,Missense_L24F,Missense_L24F,Missense_L24F,Missense_L24F,Missense_L24F rs12135523 1 161678254 [A/G] NM_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA Silent,Silent,Silent,Silent,Silent,Silent,Silent exm118327 1 161680583 [G/C] NM_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_P55R,Missense_P55R,Silent,Missense_P61R,Silent,Missense_P55R,Silent exm118332 1 161681040 [A/G] NM_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_G109E,Silent,Silent,Missense_G115E,Silent,Silent,Silent exm118335 1 161681082 [T/C] NM_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_P123L,Silent,Silent,Missense_P129L,Silent,Silent,Silent exm118336 1 161681087 [A/G] NM_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_T125A,Silent,Silent,Missense_T131A,Silent,Silent,Silent exm118350 1 161681237 [A/G] NM_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_A175T,Silent,Silent,Missense_A181T,Silent,Silent,Silent exm118351 1 161681238 [A/C] NM_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_A175E,Silent,Silent,Missense_A181E,Silent,Silent,Silent exm118357 1 161681736 [T/C] NM_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_A188V,Silent,Missense_A48V,Missense_A194V,Silent,Missense_A99V,Missense_A54V exm118361 1 161681753 [G/C] NM_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_V194L,Silent,Missense_V54L,Missense_V200L,Silent,Missense_V105L,Missense_V60L exm118362 1 161681780 [A/G] NM_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_S203G,Silent,Missense_S63G,Missense_S209G,Silent,Missense_S114G,Missense_S69G exm118366 1 161681869 [A/G] NM_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_I232M,Silent,Missense_I92M,Missense_I238M,Silent,Missense_I143M,Missense_I98M exm118367 1 161681870 [A/G] NM_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_V233M,Silent,Missense_V93M,Missense_V239M,Silent,Missense_V144M,Missense_V99M exm118372 1 161681930 [A/G] NM_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_G253R,Silent,Missense_G113R,Missense_G259R,Silent,Missense_G164R,Missense_G119R exm118386 1 161682992 [T/C] NM_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_S318F,Missense_S134F,Missense_S178F,Missense_S324F,Missense_S83F,Missense_S229F,Missense_S184F exm118387 1 161683055 [A/G] NM_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_G339D,Missense_G155D,Missense_G199D,Missense_G345D,Missense_G104D,Missense_G250D,Missense_G205D exm118389 1 161683096 [A/G] NM_032738,NM_001184873,NM_001184872,NM_001184866,NM_001184871,NM_001184867,NM_001184870 FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA,FCRLA EXON Missense_G353S,Missense_G169S,Missense_G213S,Missense_G359S,Missense_G118S,Missense_G264S,Missense_G219S rs12042893 1 161685725 [T/C] rs10494356 1 161687261 [A/G] rs1891019 1 161691433 [T/C] exm118394 1 161692468 [C/G] NM_001002901 FCRLB EXON Missense_W2C variant.8054 1 161693156 [A/G] NM_001002901 FCRLB Silent exm118403 1 161693199 [T/C] NM_001002901 FCRLB EXON Missense_T32I exm118409 1 161693280 [T/C] NM_001002901 FCRLB EXON Missense_T59I variant.8055 1 161693287 [A/G] NM_001002901 FCRLB EXON Nonsense_W61X 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 rs12079477 1 161694857 [A/G] NM_001002901 FCRLB Silent exm118431 1 161695779 [A/G] NM_001002901 FCRLB EXON Missense_R159H 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 rs2840310 1 161700827 [A/G] exm2259829 1 161701810 [A/G] rs11576107 1 161702792 [T/C] rs1027702 1 161712857 [T/C] 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 rs1063178 1 161721707 [T/C] NM_007240 DUSP12 EXON Synonymous_Y170Y exm118496 1 161721771 [C/G] NM_007240 DUSP12 EXON Missense_P192A variant.8063 1 161722878 [T/C] NM_007240 DUSP12 EXON Nonsense_R230X 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 rs4657101 1 161738238 [A/C] NM_007348 ATF6 Silent rs905594 1 161741274 [T/C] NM_007348 ATF6 Silent exm118528 1 161748100 [A/G] NM_007348 ATF6 EXON Missense_N50S variant.8064 1 161748115 [A/G] NM_007348 ATF6 Silent rs1058405 1 161751741 [A/G] NM_007348 ATF6 EXON Missense_M67V 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 rs2134697 1 161780979 [A/G] NM_007348 ATF6 Silent rs10800032 1 161794336 [T/C] NM_007348 ATF6 Silent rs10918029 1 161795896 [A/G] NM_007348 ATF6 Silent exm-rs7530997 1 161810151 [A/G] NM_007348 ATF6 Silent rs17408556 1 161813765 [T/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 rs4657115 1 161831507 [A/G] NM_007348 ATF6 Silent rs6670606 1 161837762 [A/G] NM_007348 ATF6 Silent rs10918103 1 161842040 [A/G] NM_007348 ATF6 Silent rs10737517 1 161908338 [A/G] NM_007348 ATF6 Silent exm-rs10918270 1 161915501 [A/G] NM_007348 ATF6 Silent rs2341471 1 161924749 [A/G] NM_007348 ATF6 Silent rs9482 1 161928327 [A/G] NM_007348 ATF6 EXON Synonymous_S632S exm1724880 1 161928391 [A/G] NM_007348 ATF6 EXON Missense_A654T rs2490438 1 161936788 [A/G] rs2340725 1 161943634 [T/C] 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 indel.8067 1 161954680 [I/D] NM_015441 OLFML2B EXON exm118658 1 161954710 [T/C] NM_015441 OLFML2B EXON Missense_R512Q rs7523243 1 161955205 [T/C] NM_015441 OLFML2B Silent rs10494362 1 161957719 [A/G] NM_015441 OLFML2B Silent rs2490420 1 161964536 [T/C] NM_015441 OLFML2B Silent rs6691548 1 161967287 [T/C] NM_015441 OLFML2B Silent 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 rs6676438 1 161983089 [T/C] NM_015441 OLFML2B Silent 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 rs4657134 1 161990991 [A/G] NM_015441 OLFML2B Silent exm118753 1 161993187 [A/C] NM_015441 OLFML2B EXON Missense_A12S exm118754 1 161993192 [T/C] NM_015441 OLFML2B EXON Missense_Y10C rs7551221 1 162000398 [T/C] rs7539281 1 162008034 [A/G] rs10158975 1 162010787 [A/G] exm-rs2880058 1 162014632 [A/G] rs2880058 1 162014632 [A/G] rs10918595 1 162031465 [A/G] exm-rs12143842 1 162033890 [T/C] rs12143842 1 162033890 [T/C] rs1337062 1 162063023 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs10918671 1 162067299 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs12074902 1 162067447 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm-rs1415259 1 162085309 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm-rs10494366 1 162085685 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs10458392 1 162092110 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs1572495 1 162099301 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs4657154 1 162108119 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs16857019 1 162112650 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm-rs16857031 1 162112910 [C/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs945708 1 162118902 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs10918762 1 162118984 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm-rs12029454 1 162133117 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs12029454 1 162133117 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs7546353 1 162139692 [A/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs4526593 1 162148700 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs4657164 1 162160920 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm2264911 1 162168116 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs3897374 1 162168958 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs6676737 1 162175972 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs12116744 1 162180456 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs6683968 1 162191412 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs4657175 1 162195738 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs10918936 1 162202488 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs4657178 1 162210610 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm-rs4657178 1 162210610 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs6677052 1 162219739 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs12742393 1 162224586 [A/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs10919025 1 162239031 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs10157390 1 162247296 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs7528328 1 162247779 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs6659953 1 162249697 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs12027674 1 162252414 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs10919096 1 162263270 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs6677529 1 162263754 [A/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm118761 1 162270463 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP EXON Missense_S99N,Missense_S104N rs2819316 1 162278552 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs2819322 1 162281028 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs9661075 1 162299197 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs347300 1 162299823 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm2250095 1 162302846 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP EXON Synonymous_I123I,Synonymous_I128I rs10753789 1 162306207 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs6700867 1 162306295 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs10800465 1 162310313 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs347282 1 162312753 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs449908 1 162324445 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm2231677 1 162326804 [T/G] NM_001164757,NM_014697 NOS1AP,NOS1AP EXON Missense_S268A,Missense_S273A exm118790 1 162326843 [T/C] NM_001164757,NM_014697 NOS1AP,NOS1AP EXON Missense_P281S,Missense_P286S rs12122048 1 162331408 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent rs6681981 1 162331621 [A/G] NM_001164757,NM_014697 NOS1AP,NOS1AP Silent,Silent exm118810 1 162336953 [T/C] NM_001164757,NM_014697,NM_001126060 NOS1AP,NOS1AP,NOS1AP EXON Missense_A401V,Missense_A406V,Missense_A111V rs164148 1 162338485 [A/G] NM_001164757,NM_014697,NM_001126060 NOS1AP,NOS1AP,NOS1AP EXON Silent,Silent,Silent rs164158 1 162343388 [T/C] exm118825 1 162343861 [T/C] NM_182581 C1orf111 EXON Missense_G255S exm118835 1 162343974 [T/C] NM_182581 C1orf111 EXON Missense_R217H rs2282397 1 162344102 [T/C] NM_182581 C1orf111 EXON Synonymous_R174R 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 rs1047802 1 162356487 [T/G] NM_001085375 C1orf226 EXON Silent rs10919317 1 162360008 [T/C] rs164126 1 162365659 [A/G] NM_053282 SH2D1B EXON Silent exm118923 1 162367103 [T/G] NM_053282 SH2D1B EXON Missense_N122K exm118927 1 162368747 [T/C] NM_053282 SH2D1B EXON Nonsense_W110X indel.8081 1 162368762 [D/I] NM_053282 SH2D1B EXON rs12746024 1 162374853 [A/C] NM_053282 SH2D1B Silent rs351453 1 162375916 [T/C] NM_053282 SH2D1B Silent exm118937 1 162381672 [T/C] NM_053282 SH2D1B Silent exm118939 1 162381700 [A/G] NM_053282 SH2D1B EXON Missense_I36T rs164128 1 162385511 [T/G] rs164410 1 162387704 [T/C] rs905717 1 162390085 [A/G] rs469809 1 162416532 [T/C] rs164160 1 162433012 [T/C] rs164170 1 162439692 [T/G] rs357036 1 162451851 [A/G] rs6673387 1 162458412 [T/C] rs10919548 1 162466523 [A/C] exm118952 1 162467843 [T/C] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON Silent,Missense_A18V,Missense_A18V exm118962 1 162468040 [G/C] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON Silent,Missense_Q84E,Missense_Q84E exm118966 1 162469853 [A/G] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON Missense_S52N,Missense_S126N,Missense_S126N exm118967 1 162469861 [G/C] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON Missense_G55R,Missense_G129R,Missense_G129R variant.8084 1 162470701 [A/G] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 Silent,Silent,Silent exm118987 1 162482366 [C/G] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON Missense_A235P,Missense_A309P,Missense_A309P exm118996 1 162487906 [T/G] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON Missense_V273L,Missense_V347L,Silent indel.8088 1 162487912 [D/I] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON exm119000 1 162492285 [A/C] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON Missense_T328K,Missense_T402K,Silent rs1062174 1 162493009 [T/C] NM_001184763,NM_175866,NM_144624 UHMK1,UHMK1,UHMK1 EXON Silent,Silent,Silent rs6704428 1 162528505 [A/G] exm119009 1 162535958 [T/C] NM_003115 UAP1 EXON Missense_Y34H rs12130399 1 162543172 [A/G] NM_003115 UAP1 Silent exm1725823 1 162551137 [A/G] NM_003115 UAP1 EXON Missense_Q241R exm119023 1 162557358 [G/C] NM_003115 UAP1 EXON Missense_A310P variant.8089 1 162557373 [T/C] NM_003115 UAP1 EXON Nonsense_R315X exm119030 1 162557457 [A/G] NM_003115 UAP1 EXON Missense_N343D indel.8090 1 162558530 [I/D] NM_003115 UAP1 EXON exm119035 1 162560114 [A/C] NM_003115 UAP1 EXON Missense_K391Q exm119044 1 162560282 [T/C] NM_003115 UAP1 EXON Missense_R447C rs1510267 1 162562775 [A/G] NM_003115 UAP1 Silent rs16863833 1 162567225 [T/C] NM_003115 UAP1 Silent exm119050 1 162569077 [T/C] NM_003115 UAP1 EXON Missense_V481A exm2231683 1 162569107 [A/T] NM_003115 UAP1 EXON Missense_I491N rs12027707 1 162590088 [T/C] rs6702652 1 162597545 [T/G] rs7544972 1 162600119 [T/C] rs7524537 1 162613122 [T/C] NM_006182,NM_001014796 DDR2,DDR2 Silent,Silent rs3795641 1 162625020 [A/G] NM_006182,NM_001014796 DDR2,DDR2 EXON Silent,Silent rs988383 1 162625756 [T/C] NM_006182,NM_001014796 DDR2,DDR2 Silent,Silent rs10917583 1 162630894 [T/C] NM_006182,NM_001014796 DDR2,DDR2 Silent,Silent rs4656376 1 162640649 [A/G] NM_006182,NM_001014796 DDR2,DDR2 Silent,Silent rs4657226 1 162653274 [A/G] NM_006182,NM_001014796 DDR2,DDR2 Silent,Silent rs7553831 1 162661011 [T/G] NM_006182,NM_001014796 DDR2,DDR2 Silent,Silent rs17433710 1 162672011 [T/C] NM_006182,NM_001014796 DDR2,DDR2 Silent,Silent rs6695961 1 162684359 [T/C] NM_006182,NM_001014796 DDR2,DDR2 Silent,Silent variant.8092 1 162688825 [A/G] NM_006182,NM_001014796 DDR2,DDR2 Silent,Silent rs2665496 1 162713074 [A/C] NM_006182,NM_001014796 DDR2,DDR2 Silent,Silent rs1704740 1 162722216 [A/G] NM_006182,NM_001014796 DDR2,DDR2 Silent,Silent 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 rs2805025 1 162732491 [A/G] NM_006182,NM_001014796 DDR2,DDR2 Silent,Silent rs6676809 1 162739009 [A/G] NM_006182,NM_001014796 DDR2,DDR2 Silent,Silent 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 rs1780003 1 162740327 [T/C] NM_006182,NM_001014796 DDR2,DDR2 Silent,Silent 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 rs1510324 1 162793865 [A/G] rs6673329 1 162794500 [A/G] rs2684874 1 162797691 [T/C] rs12026860 1 162800207 [T/G] rs7354897 1 162800426 [T/C] rs6679069 1 162813651 [T/C] rs16845797 1 162819508 [T/C] rs2880639 1 162820067 [T/C] rs1912453 1 162821291 [A/G] 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 var_1_162825004 1 162825004 [A/G] NM_178550 C1orf110 EXON Nonsense_Q154X exm119238 1 162825004 [A/G] NM_178550 C1orf110 EXON Nonsense_Q154X exm119247 1 162825457 [A/C] NM_178550 C1orf110 EXON Missense_R93S rs1355285 1 162827816 [T/C] NM_178550 C1orf110 Silent exm119253 1 162829327 [A/T] NM_178550 C1orf110 EXON Missense_V37D variant.8098 1 162829349 [A/G] NM_178550 C1orf110 EXON Nonsense_Q30X exm1726289 1 162829449 [A/C] NM_178550 C1orf110 Silent rs12024415 1 162832406 [T/C] NM_178550 C1orf110 Silent rs2032049 1 162833401 [A/G] NM_178550 C1orf110 Silent rs12047510 1 162842202 [T/C] rs2803881 1 162843606 [A/C] rs12746889 1 162846591 [T/C] rs2343479 1 162854145 [T/C] rs4540634 1 162870633 [T/C] rs10917636 1 162878023 [T/G] rs10917640 1 162881307 [T/C] rs10799883 1 162883337 [A/G] rs10753596 1 162884258 [T/C] rs4403607 1 162887988 [T/C] rs2343504 1 162890325 [A/G] rs6657722 1 162893276 [T/C] rs2343508 1 162896697 [T/C] rs6664865 1 162910384 [T/C] rs4492592 1 162910683 [T/G] rs12091621 1 162915745 [A/G] rs10917649 1 162920524 [T/C] rs10917653 1 162927922 [A/G] rs10799891 1 162932150 [A/G] rs6686926 1 162932163 [T/C] rs11585636 1 162932822 [T/C] rs2343278 1 162938703 [T/G] rs12126781 1 162940693 [A/G] rs16847292 1 162944464 [T/C] rs7339985 1 162945455 [A/G] rs2841979 1 162959836 [A/G] rs1507742 1 162961718 [A/C] rs1507746 1 162995355 [A/G] rs2661339 1 163018934 [T/G] rs2842020 1 163027520 [A/G] rs951437 1 163033511 [T/C] exm2250111 1 163035531 [A/C] rs7515900 1 163038613 [A/C] NM_001102445 RGS4 EXON Silent variant.8100 1 163038784 [T/G] NM_001102445,NM_005613 RGS4,RGS4 EXON Silent,Silent variant.8101 1 163039117 [A/G] NM_001102445,NM_005613,NM_001113381 RGS4,RGS4,RGS4 EXON Nonsense_W45X,Silent,Silent variant.8102 1 163042222 [T/C] NM_001102445,NM_005613,NM_001113381,NM_001113380 RGS4,RGS4,RGS4,RGS4 EXON Nonsense_Q125X,Nonsense_Q28X,Nonsense_Q28X,Nonsense_Q10X variant.8103 1 163042622 [A/G] NM_001102445,NM_005613,NM_001113381,NM_001113380 RGS4,RGS4,RGS4,RGS4 EXON Nonsense_W156X,Nonsense_W59X,Nonsense_W59X,Nonsense_W41X var_1_163044110 1 163044110 [A/G] NM_001102445,NM_005613,NM_001113381,NM_001113380 RGS4,RGS4,RGS4,RGS4 Silent,Silent,Silent,Silent 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 rs2063142 1 163053289 [A/G] rs2841959 1 163058194 [T/C] rs2661303 1 163064483 [T/C] rs10799899 1 163073502 [A/C] rs2940249 1 163080200 [T/C] rs2841989 1 163093382 [T/G] rs1507735 1 163104848 [A/G] rs10494382 1 163107107 [T/G] rs1056515 1 163113260 [T/G] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 EXON Silent,Silent,Silent,Silent rs2815274 1 163114605 [A/G] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 EXON Silent,Silent,Silent,Silent exm2259832 1 163115321 [A/G] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 EXON Silent,Silent,Silent,Silent rs15049 1 163116878 [T/G] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 EXON Silent,Silent,Silent,Silent exm119288 1 163117163 [T/C] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 EXON Missense_R176H,Missense_R172H,Missense_R64H,Missense_R64H indel.8106 1 163117168 [I/D] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 EXON exm1726411 1 163117173 [A/G] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 EXON Missense_R173C,Missense_R169C,Missense_R61C,Missense_R61C indel.8107 1 163122407 [D/I] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 EXON exm119297 1 163122448 [C/G] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 EXON Missense_E92D,Missense_E92D,Silent,Silent indel.8108 1 163122486 [I/D] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 EXON rs2255642 1 163126417 [A/G] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 Silent,Silent,Silent,Silent rs1876451 1 163132803 [T/C] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 Silent,Silent,Silent,Silent exm119308 1 163138082 [T/G] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 EXON Missense_N41H,Missense_N41H,Silent,Silent rs7534573 1 163145696 [T/C] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 Silent,Silent,Silent,Silent rs10917695 1 163148728 [T/C] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 Silent,Silent,Silent,Silent rs10917696 1 163149325 [T/C] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 Silent,Silent,Silent,Silent rs4657252 1 163157126 [A/C] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 Silent,Silent,Silent,Silent rs7539342 1 163157353 [A/C] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 Silent,Silent,Silent,Silent rs7355070 1 163159496 [A/G] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 Silent,Silent,Silent,Silent rs12138022 1 163162441 [T/C] NM_001254749,NM_003617,NM_001195303,NM_001254748 RGS5,RGS5,RGS5,RGS5 Silent,Silent,Silent,Silent rs2662770 1 163183944 [A/G] NM_001254748 RGS5 Silent rs1509019 1 163188476 [A/G] NM_001254748 RGS5 Silent rs10917703 1 163197840 [A/C] NM_001254748 RGS5 Silent rs2457185 1 163200062 [T/C] NM_001254748 RGS5 Silent rs12080108 1 163201904 [A/C] NM_001254748 RGS5 Silent rs2999963 1 163206986 [T/C] NM_001254748 RGS5 Silent rs6664060 1 163218439 [A/G] NM_001254748 RGS5 Silent rs10494390 1 163220797 [T/C] NM_001254748 RGS5 Silent rs7518042 1 163241407 [T/C] NM_001254748 RGS5 Silent rs6679239 1 163251311 [T/C] NM_001254748 RGS5 Silent rs11582919 1 163273585 [T/C] NM_001254748 RGS5 Silent rs2292276 1 163292362 [T/C] NM_031423,NM_145697 NUF2,NUF2 Silent,Silent variant.8109 1 163297276 [A/G] NM_031423,NM_145697 NUF2,NUF2 Silent,Silent rs12691496 1 163297381 [A/G] NM_031423,NM_145697 NUF2,NUF2 Silent,Silent exm119327 1 163298037 [T/C] NM_031423,NM_145697 NUF2,NUF2 EXON Missense_V73A,Missense_V73A variant.8111 1 163298698 [T/G] NM_031423,NM_145697 NUF2,NUF2 Silent,Silent exm119334 1 163306550 [A/G] NM_031423,NM_145697 NUF2,NUF2 EXON Missense_R116Q,Missense_R116Q indel.8112 1 163306624 [I/D] NM_031423,NM_145697 NUF2,NUF2 EXON exm119341 1 163306638 [T/C] NM_031423,NM_145697 NUF2,NUF2 EXON Synonymous_Y145Y,Synonymous_Y145Y variant.8114 1 163306639 [A/G] NM_031423,NM_145697 NUF2,NUF2 Silent,Silent exm119346 1 163307846 [A/G] NM_031423,NM_145697 NUF2,NUF2 EXON Missense_A158T,Missense_A158T exm119356 1 163309266 [T/C] NM_031423,NM_145697 NUF2,NUF2 EXON Missense_T202M,Missense_T202M rs1022058 1 163310510 [T/C] NM_031423,NM_145697 NUF2,NUF2 Silent,Silent rs10799912 1 163313262 [A/G] NM_031423,NM_145697 NUF2,NUF2 Silent,Silent exm119362 1 163313539 [T/C] NM_031423,NM_145697 NUF2,NUF2 EXON Missense_S229L,Missense_S229L exm119365 1 163313568 [A/C] NM_031423,NM_145697 NUF2,NUF2 EXON Missense_S239R,Missense_S239R exm119368 1 163313635 [A/C] NM_031423,NM_145697 NUF2,NUF2 EXON Missense_T261K,Missense_T261K exm119375 1 163317715 [T/C] NM_031423,NM_145697 NUF2,NUF2 EXON Missense_R371C,Missense_R371C variant.8118 1 163318778 [T/C] NM_031423,NM_145697 NUF2,NUF2 EXON Nonsense_R390X,Nonsense_R390X exm119377 1 163318779 [A/G] NM_031423,NM_145697 NUF2,NUF2 EXON Missense_R390Q,Missense_R390Q exm119386 1 163325170 [A/G] NM_031423,NM_145697 NUF2,NUF2 EXON Missense_G436S,Missense_G436S rs1396544 1 163330805 [A/G] rs3013495 1 163351383 [T/C] rs3010344 1 163351718 [T/G] rs6685251 1 163353790 [A/G] rs3010348 1 163359017 [A/G] rs3010355 1 163369704 [T/C] rs7546952 1 163391538 [A/G] rs12735706 1 163399083 [T/C] rs4657277 1 163416975 [T/G] rs12036398 1 163422204 [T/C] rs10917756 1 163422320 [T/G] rs4469696 1 163424565 [T/C] rs4657284 1 163440717 [A/G] rs2791150 1 163452016 [T/C] rs2820568 1 163453047 [A/G] rs2211183 1 163456961 [T/G] rs1890798 1 163457348 [T/C] rs12128972 1 163479468 [T/G] rs10799925 1 163480019 [T/G] rs1934523 1 163480551 [A/G] rs12035232 1 163487264 [A/G] rs6681222 1 163492132 [T/C] rs10917787 1 163492245 [A/G] rs10799928 1 163494784 [T/C] rs3001083 1 163502326 [A/C] rs2820871 1 163508344 [T/C] rs6674167 1 163511425 [A/G] rs10917799 1 163525477 [A/G] rs2486834 1 163535283 [T/C] exm2265052 1 163538248 [A/G] rs1934533 1 163543441 [A/G] rs12094654 1 163554209 [T/G] rs10917804 1 163558749 [T/C] rs7525601 1 163569354 [T/C] rs10753622 1 163582039 [T/C] rs2345965 1 163604000 [A/C] rs12239576 1 163674732 [T/C] rs1289002 1 163679501 [T/C] rs10799944 1 163697998 [A/G] rs1339453 1 163699103 [A/G] rs10753623 1 163714218 [T/C] rs10737495 1 163736925 [A/G] rs10799961 1 163744838 [A/G] rs13374982 1 163772455 [T/C] exm2268774 1 163781066 [T/C] rs915395 1 163783586 [T/G] rs7533878 1 163795105 [T/C] rs10917855 1 163802280 [T/G] rs12030349 1 163805912 [A/C] rs796694 1 163829349 [A/C] rs884518 1 163836720 [A/G] rs11582225 1 163842143 [T/C] rs16861503 1 163842961 [A/G] rs12120922 1 163850670 [A/C] rs7553359 1 163852034 [A/G] rs1816756 1 163866023 [T/C] rs12139078 1 163886496 [T/G] rs10436885 1 163894487 [T/C] rs7550282 1 163902358 [T/C] rs7511858 1 163907715 [T/C] rs12129997 1 163913755 [T/C] rs10494403 1 163916669 [T/C] rs1858534 1 163941245 [A/G] exm2250122 1 163948373 [A/C] rs1444439 1 163950439 [A/G] rs1122279 1 163953111 [A/G] rs17376111 1 163957638 [T/C] rs7536844 1 164001513 [A/G] rs1289586 1 164006598 [T/C] rs12760871 1 164021052 [A/G] rs10917897 1 164031874 [A/G] rs4085003 1 164046161 [A/C] rs6672232 1 164060002 [T/C] rs4657327 1 164071162 [T/C] rs7533006 1 164078275 [A/G] rs4657329 1 164082055 [A/C] rs10917931 1 164100378 [A/G] rs9787119 1 164119706 [A/G] rs6699905 1 164128348 [T/G] rs12037444 1 164144117 [A/G] rs1361065 1 164149433 [A/C] rs7524933 1 164151402 [A/G] rs11800877 1 164159810 [A/C] rs1415434 1 164173124 [T/G] rs6656557 1 164178654 [A/G] rs4258194 1 164180730 [A/G] rs2346884 1 164184997 [A/G] rs12076657 1 164195785 [T/C] rs7542616 1 164199038 [A/G] rs16826820 1 164207723 [A/G] rs2881506 1 164212456 [A/G] rs1556867 1 164213686 [T/C] rs7520925 1 164216796 [T/G] rs7520430 1 164222308 [T/G] rs2881507 1 164226252 [A/G] rs10917967 1 164230383 [A/G] rs10800013 1 164274152 [A/C] rs535988 1 164280278 [A/G] rs531802 1 164284530 [A/C] rs6426865 1 164288668 [A/G] rs2130151 1 164293400 [A/G] rs555908 1 164301943 [T/C] rs1339001 1 164305329 [A/C] rs574944 1 164327833 [T/C] rs2077409 1 164332266 [A/G] rs2077405 1 164332649 [A/C] rs10917994 1 164336084 [T/C] rs7541743 1 164349646 [A/G] rs526421 1 164350468 [T/C] rs1416436 1 164360749 [T/C] rs12043375 1 164365846 [T/C] rs2494388 1 164372210 [T/G] rs10800018 1 164385690 [T/C] rs2821398 1 164392501 [A/G] rs2788526 1 164404171 [T/C] rs1873137 1 164409349 [A/G] rs1387353 1 164414741 [A/G] rs1289727 1 164419479 [T/C] rs11806933 1 164421385 [A/G] rs1416261 1 164447829 [T/C] rs10800024 1 164457615 [T/C] rs10918018 1 164474258 [T/C] rs1338626 1 164488457 [T/G] rs946253 1 164496611 [T/C] rs1340519 1 164503366 [A/G] rs11590969 1 164506508 [A/G] rs10918034 1 164509706 [A/G] exm119393 1 164529120 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 EXON Missense_G21S,Missense_G21S,Missense_G21S exm119401 1 164532475 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 EXON Synonymous_R64R,Synonymous_R64R,Synonymous_R64R rs10800038 1 164564532 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs2792253 1 164568606 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs11581789 1 164573864 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs6672521 1 164583355 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs1620861 1 164601072 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs1618566 1 164607346 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs6426874 1 164619900 [T/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs12047043 1 164625696 [T/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs2635034 1 164635818 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs2800775 1 164636498 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs1552560 1 164656976 [T/C] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs10800043 1 164658057 [T/C] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs2800798 1 164666253 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs2171692 1 164666940 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs977330 1 164671255 [T/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs12089801 1 164672441 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent exm2268775 1 164684858 [T/C] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs2171691 1 164689328 [T/C] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs2130166 1 164689615 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs7518582 1 164702044 [T/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs11583670 1 164716168 [T/C] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs10918063 1 164720061 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs9660091 1 164732727 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent exm2259837 1 164733504 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs2789444 1 164734457 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs7521521 1 164737549 [T/C] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent exm-rs6670655 1 164739171 [T/C] NM_001204961,NM_002585,NM_001204963,NR_038072 PBX1,PBX1,PBX1,LOC100505795 EXON Silent,Silent,Silent,Silent rs12737465 1 164743778 [A/G] NM_001204961,NM_002585,NM_001204963,NR_038072 PBX1,PBX1,PBX1,LOC100505795 EXON Silent,Silent,Silent,Silent rs10800048 1 164747408 [A/C] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs4657375 1 164764500 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs902038 1 164766209 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs3767371 1 164772640 [T/C] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs956409 1 164786799 [A/G] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs1107531 1 164807929 [T/C] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs10800055 1 164810580 [A/C] NM_001204961,NM_002585,NM_001204963 PBX1,PBX1,PBX1 Silent,Silent,Silent rs1890535 1 164829035 [A/G] rs10918082 1 164836521 [T/C] rs1213293 1 164862175 [A/G] rs10800056 1 164864196 [A/G] rs2488912 1 164864941 [A/G] rs1213285 1 164873859 [A/G] rs1541243 1 164875964 [T/C] rs1936076 1 164879437 [T/C] exm2268776 1 164883887 [T/C] rs7538001 1 164883887 [T/C] rs1936096 1 164899933 [A/G] rs1936090 1 164922082 [A/G] rs1419067 1 164922847 [A/G] rs1891737 1 164928753 [A/C] rs4259623 1 164932033 [A/G] rs4300198 1 164951242 [A/G] rs12726675 1 164951316 [A/G] rs2211479 1 164966447 [T/C] rs1936075 1 164992228 [A/G] exm2259838 1 164995713 [A/G] rs7542261 1 164999850 [T/C] rs7524769 1 165013535 [A/G] exm-rs723821 1 165016712 [A/C] rs1343316 1 165018803 [T/C] rs12048476 1 165037370 [A/G] rs2881832 1 165047786 [T/C] rs2348108 1 165071376 [T/C] rs10494431 1 165079632 [A/G] rs923937 1 165081033 [T/C] rs6686369 1 165081595 [A/G] rs2172712 1 165087492 [A/G] rs9803673 1 165091285 [A/G] rs4657404 1 165111242 [A/C] rs10494434 1 165117237 [A/G] rs10737505 1 165121286 [T/C] rs10918129 1 165124178 [T/C] rs2348247 1 165131295 [T/G] rs7532137 1 165132051 [A/G] rs2055596 1 165135937 [T/C] rs7548311 1 165137434 [A/G] rs1891927 1 165138246 [A/G] rs6426901 1 165158705 [A/G] rs12029375 1 165166002 [T/C] rs17402900 1 165171677 [T/C] NM_177398,NM_001174069 LMX1A,LMX1A EXON Silent,Silent exm119427 1 165173169 [T/C] NM_177398,NM_001174069 LMX1A,LMX1A EXON Missense_G366E,Missense_G366E exm119436 1 165173272 [T/C] NM_177398,NM_001174069 LMX1A,LMX1A EXON Missense_E332K,Missense_E332K exm119438 1 165175104 [A/G] NM_177398,NM_001174069 LMX1A,LMX1A EXON Missense_Y329H,Missense_Y329H exm119445 1 165175206 [T/G] NM_177398,NM_001174069 LMX1A,LMX1A EXON Missense_T295P,Missense_T295P newrs187240783 1 165179931 [A/G] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent exm-rs1532815 1 165180089 [T/A] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent newrs144209134 1 165182873 [T/C] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent exm119458 1 165182976 [T/C] NM_177398,NM_001174069 LMX1A,LMX1A EXON Missense_D191N,Missense_D191N rs10494438 1 165199023 [A/G] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs1394439 1 165213822 [A/G] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs1394438 1 165214162 [A/G] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs1506946 1 165217356 [A/G] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs10753668 1 165218792 [A/G] NM_177398,NM_001174069 LMX1A,LMX1A EXON Synonymous_L117L,Synonymous_L117L rs7519089 1 165244061 [T/C] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs1833030 1 165248182 [T/C] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs7540476 1 165256014 [T/C] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs16842100 1 165258646 [A/G] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs10800080 1 165263768 [A/C] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs6662349 1 165264856 [A/G] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs10732283 1 165267930 [A/G] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs16842354 1 165276634 [T/G] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs7554002 1 165287003 [A/G] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs11809911 1 165288357 [T/C] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs6688855 1 165291536 [T/G] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs2221246 1 165297637 [T/C] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs1948857 1 165297703 [A/C] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs1395548 1 165313427 [A/C] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent rs1974080 1 165317996 [A/G] NM_177398,NM_001174069 LMX1A,LMX1A Silent,Silent exm119471 1 165322317 [C/G] NM_177398,NM_001174069 LMX1A,LMX1A EXON Missense_E87Q,Missense_E87Q exm119474 1 165322457 [T/C] NM_177398,NM_001174069 LMX1A,LMX1A EXON Missense_R40Q,Missense_R40Q exm119479 1 165324786 [C/G] NM_177398,NM_001174069 LMX1A,LMX1A EXON Missense_G4A,Missense_G4A rs11590177 1 165340884 [T/C] rs12081765 1 165341849 [A/G] rs12057296 1 165342963 [T/C] rs965743 1 165349087 [A/C] rs10489743 1 165353548 [T/C] rs3767333 1 165372404 [A/G] NM_006917,NM_001256571,NM_001256570 RXRG,RXRG,RXRG Silent,Silent,Silent rs2134095 1 165377552 [A/G] NM_006917,NM_001256571,NM_001256570 RXRG,RXRG,RXRG EXON Synonymous_V350V,Synonymous_V227V,Synonymous_V227V variant.8123 1 165377557 [T/C] NM_006917,NM_001256571,NM_001256570 RXRG,RXRG,RXRG Silent,Silent,Silent exm119508 1 165380233 [T/C] NM_006917,NM_001256571,NM_001256570 RXRG,RXRG,RXRG EXON Missense_V246I,Missense_V123I,Missense_V123I rs157863 1 165383403 [A/G] NM_006917,NM_001256571,NM_001256570 RXRG,RXRG,RXRG Silent,Silent,Silent rs2281985 1 165386158 [T/C] NM_006917,NM_001256571,NM_001256570 RXRG,RXRG,RXRG Silent,Silent,Silent rs7533324 1 165387533 [T/C] NM_006917,NM_001256571,NM_001256570 RXRG,RXRG,RXRG Silent,Silent,Silent rs157869 1 165388948 [A/G] NM_006917,NM_001256571,NM_001256570 RXRG,RXRG,RXRG Silent,Silent,Silent rs1128977 1 165389129 [A/G] NM_006917,NM_001256571,NM_001256570 RXRG,RXRG,RXRG EXON Synonymous_A140A,Synonymous_A17A,Synonymous_A17A exm119522 1 165389155 [T/C] NM_006917,NM_001256571,NM_001256570 RXRG,RXRG,RXRG EXON Missense_G132R,Missense_G9R,Missense_G9R exm-rs466639 1 165394882 [T/C] NM_006917,NM_001256570 RXRG,RXRG Silent,Silent rs466639 1 165394882 [T/C] NM_006917,NM_001256570 RXRG,RXRG Silent,Silent exm-rs285480 1 165403903 [A/G] NM_006917,NM_001256570 RXRG,RXRG Silent,Silent exm-rs10800098 1 165409095 [A/G] NM_006917,NM_001256570,NR_033824 RXRG,RXRG,RXRG Silent,Silent,Silent rs285481 1 165410468 [T/C] NM_006917,NM_001256570,NR_033824 RXRG,RXRG,RXRG Silent,Silent,Silent rs285482 1 165410723 [T/G] NM_006917,NM_001256570,NR_033824 RXRG,RXRG,RXRG Silent,Silent,Silent rs12088020 1 165421320 [T/C] rs878180 1 165422460 [T/C] rs285428 1 165422559 [T/C] rs7519141 1 165425536 [A/G] rs10800102 1 165438912 [T/C] rs285419 1 165440194 [A/G] rs10918196 1 165448157 [T/C] NR_026744 LOC400794 Silent rs285492 1 165461566 [T/C] NR_026744 LOC400794 Silent exm-rs4657449 1 165465281 [A/G] NR_026744 LOC400794 Silent rs285473 1 165480347 [T/C] NR_026744 LOC400794 Silent exm2264912 1 165492327 [A/G] NR_026744 LOC400794 Silent indel.8124 1 165513621 [D/I] NR_026744,NM_001005214 LOC400794,LRRC52 EXON variant.8125 1 165513660 [T/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Nonsense_Q43X newrs114878977 1 165513801 [T/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Nonsense_R90X 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 variant.8127 1 165514156 [A/G] NR_026744,NM_001005214 LOC400794,LRRC52 Silent,Silent rs12750195 1 165525069 [T/C] NR_026744,NM_001005214 LOC400794,LRRC52 Silent,Silent variant.8128 1 165532816 [T/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Nonsense_R233X 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 rs453717 1 165533005 [A/C] NR_026744,NM_001005214 LOC400794,LRRC52 EXON Silent,Synonymous_R296R 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 rs16847083 1 165534130 [T/C] NR_026744 LOC400794 Silent rs6679871 1 165563605 [T/C] rs11801981 1 165569268 [A/G] rs1337444 1 165589535 [A/G] rs11809495 1 165592722 [A/G] rs6690679 1 165597321 [T/C] rs4147592 1 165600146 [A/G] NM_004528 MGST3 EXON Silent rs4147594 1 165600606 [T/C] NM_004528 MGST3 Silent rs4147595 1 165601215 [C/G] NM_004528 MGST3 Silent rs10800120 1 165605310 [A/G] NM_004528 MGST3 Silent rs9333413 1 165609300 [A/G] NM_004528 MGST3 Silent rs957644 1 165616157 [T/C] NM_004528 MGST3 Silent exm119609 1 165619079 [T/C] NM_004528 MGST3 EXON Silent exm119611 1 165620270 [T/C] NM_004528 MGST3 EXON Missense_T46M var_1_165620270 1 165620270 [T/C] NM_004528 MGST3 EXON Missense_T46M rs11799886 1 165620792 [A/G] NM_004528 MGST3 Silent 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 rs8133 1 165624799 [T/G] NM_004528 MGST3 EXON Silent rs4147611 1 165625023 [T/G] NM_004528 MGST3 EXON Silent rs10800125 1 165628921 [A/G] rs6668102 1 165631123 [A/G] kgp1039182 1 165631506 [A/G] NM_000696 ALDH9A1 EXON Silent rs12670 1 165631670 [T/G] NM_000696 ALDH9A1 EXON Silent kgp4651032 1 165631724 [T/C] NM_000696 ALDH9A1 EXON Silent kgp15783294 1 165632045 [T/G] NM_000696 ALDH9A1 EXON Silent exm119642 1 165632360 [T/C] NM_000696 ALDH9A1 EXON Missense_R495H newrs140134210 1 165634254 [T/C] NM_000696 ALDH9A1 Silent exm119648 1 165634302 [T/C] NM_000696 ALDH9A1 EXON Missense_Y472C kgp4565507 1 165634336 [T/C] NM_000696 ALDH9A1 EXON Missense_E461K 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 rs12065621 1 165639264 [A/G] NM_000696 ALDH9A1 Silent variant.8137 1 165648678 [A/C] NM_000696 ALDH9A1 Silent exm119668 1 165648710 [A/G] NM_000696 ALDH9A1 EXON Missense_A300V indel.8138 1 165648744 [D/I] NM_000696 ALDH9A1 EXON 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 var_1_165652261 1 165652261 [T/C] NM_000696 ALDH9A1 EXON Nonsense_W138X exm1729853 1 165652272 [T/C] NM_000696 ALDH9A1 EXON Missense_D135N rs1143659 1 165652273 [A/G] NM_000696 ALDH9A1 EXON Synonymous_I134I exm119692 1 165652283 [T/C] NM_000696 ALDH9A1 EXON Missense_R131H kgp15821543 1 165652301 [T/G] NM_000696 ALDH9A1 EXON Missense_K125T exm119698 1 165652343 [T/C] NM_000696 ALDH9A1 EXON Missense_R111Q rs1538115 1 165658750 [A/G] NM_000696 ALDH9A1 Silent rs17482717 1 165663798 [A/G] NM_000696 ALDH9A1 Silent exm119705 1 165664552 [T/C] NM_000696 ALDH9A1 EXON Missense_I88M newrs146792904 1 165664632 [A/G] NM_000696 ALDH9A1 EXON Nonsense_R62X 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 rs12043815 1 165677216 [A/G] NR_036683 LOC440700 Silent rs12062372 1 165683487 [A/G] rs4656461 1 165687205 [A/G] exm-rs4656461 1 165687205 [A/G] exm119730 1 165697319 [T/C] NM_019026,NM_001256164,NM_001256165,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 EXON Missense_A221T,Missense_A187T,Missense_A158T,Silent exm1729920 1 165697325 [A/G] NM_019026,NM_001256164,NM_001256165,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 EXON Nonsense_R219X,Nonsense_R185X,Nonsense_R156X,Silent exm2268777 1 165702346 [T/C] NM_019026,NM_001256164,NM_001256165,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 Silent,Silent,Silent,Silent rs10918271 1 165704732 [T/C] NM_019026,NM_001256164,NM_001256165,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 Silent,Silent,Silent,Silent rs7555523 1 165718979 [A/C] NM_019026,NM_001256164,NM_001256165,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 Silent,Silent,Silent,Silent exm119736 1 165721403 [A/G] NM_019026,NM_001256164,NM_001256165,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 EXON Nonsense_R138X,Nonsense_R104X,Nonsense_R75X,Silent rs10918276 1 165726670 [A/C] NM_019026,NM_001256164,NM_001256165,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 Silent,Silent,Silent,Silent rs10918281 1 165734088 [A/G] NM_019026,NM_001256164,NM_001256165,NR_045818 TMCO1,TMCO1,TMCO1,TMCO1 Silent,Silent,Silent,Silent rs1934278 1 165769653 [A/G] rs2153264 1 165787477 [A/G] rs10800160 1 165799022 [A/G] NM_012474 UCK2 Silent rs6702462 1 165812120 [A/C] NM_012474 UCK2 Silent rs4535982 1 165815939 [T/C] NM_012474 UCK2 Silent rs10494448 1 165831128 [A/C] NM_012474 UCK2 Silent exm-rs4657482 1 165831649 [A/G] NM_012474 UCK2 Silent rs12066877 1 165832085 [T/G] NM_012474 UCK2 Silent rs6703280 1 165840411 [T/C] 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 rs3762365 1 165860813 [A/C] NM_012474 UCK2 Silent rs6681761 1 165868887 [T/C] NM_012474 UCK2 Silent rs4656467 1 165871705 [A/G] NM_012474 UCK2 Silent variant.8146 1 165872435 [T/C] NM_012474 UCK2 EXON Synonymous_S172S exm119762 1 165872479 [T/C] NM_012474 UCK2 EXON Missense_T187M rs3790672 1 165873392 [T/C] NM_012474 UCK2 Silent exm2250165 1 165877003 [T/C] NM_012474 UCK2 EXON Synonymous_N243N rs12063037 1 165891978 [T/G] rs472888 1 165896757 [T/C] rs1663839 1 165899981 [T/G] rs7525707 1 165904700 [A/G] rs11577887 1 165906819 [T/G] rs6658459 1 165917032 [T/G] rs4657493 1 165917109 [T/G] rs10800173 1 165928052 [A/G] rs9426841 1 165967961 [A/G] rs11585763 1 165992161 [T/C] rs6692476 1 165992212 [T/C] rs6426960 1 165994886 [T/G] rs6426962 1 165996331 [A/C] rs10753700 1 166011666 [A/G] rs4657510 1 166027277 [T/C] rs11581600 1 166028795 [T/C] rs7541280 1 166030786 [A/G] rs4074017 1 166036621 [T/C] rs3856211 1 166037909 [T/C] 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 rs6426964 1 166041169 [A/G] NM_001017961 FAM78B Silent rs7524575 1 166045424 [A/G] NM_001017961 FAM78B Silent rs10918345 1 166065145 [A/C] NM_001017961 FAM78B Silent rs4074897 1 166086171 [A/G] NM_001017961 FAM78B Silent rs12756802 1 166087578 [T/C] NM_001017961 FAM78B Silent rs7551912 1 166119344 [T/G] NM_001017961 FAM78B Silent rs1451599 1 166124599 [A/G] NM_001017961 FAM78B Silent rs9651038 1 166128406 [A/G] NM_001017961 FAM78B Silent rs2116519 1 166130218 [A/G] NM_001017961 FAM78B Silent rs987131 1 166136474 [A/G] exm2265055 1 166169203 [A/G] rs896404 1 166175936 [T/C] rs4391646 1 166177384 [T/C] rs6659816 1 166185037 [A/C] rs7543144 1 166191677 [A/G] rs10918416 1 166221811 [T/G] rs6658303 1 166226685 [A/G] rs1432120 1 166228386 [T/C] rs2871591 1 166241579 [T/G] rs1545007 1 166250778 [T/C] rs7524473 1 166251059 [A/G] exm2264913 1 166268048 [A/G] rs16856889 1 166269296 [A/G] rs4282794 1 166270695 [A/G] rs16856896 1 166272394 [A/G] rs6426991 1 166286486 [A/G] rs9943264 1 166299138 [A/G] rs12063590 1 166303632 [T/C] rs9970244 1 166305834 [T/G] rs7543439 1 166308210 [T/C] rs12024710 1 166308592 [A/C] rs6426996 1 166331478 [A/G] rs7547839 1 166334060 [T/C] rs10800219 1 166336254 [A/G] rs3924947 1 166336660 [A/G] rs12095056 1 166337053 [T/C] rs4542197 1 166364063 [T/G] rs7545852 1 166388391 [A/G] rs1389779 1 166389338 [A/G] rs6427004 1 166399575 [A/G] rs10918467 1 166415259 [T/C] rs11589054 1 166418076 [A/G] rs7549089 1 166431020 [T/C] rs12566754 1 166444011 [T/C] rs10918477 1 166444655 [T/C] rs10918481 1 166451443 [T/C] rs2172714 1 166452024 [A/G] rs7552777 1 166456704 [T/C] rs7544608 1 166458160 [A/C] rs7514715 1 166468429 [T/C] rs10753736 1 166479898 [A/G] rs16857234 1 166482753 [A/G] rs12097144 1 166483531 [T/C] rs11579746 1 166486813 [T/C] rs6695015 1 166489143 [A/G] rs12119773 1 166493556 [A/C] rs10918527 1 166532565 [A/G] rs7516525 1 166539001 [T/C] rs10918532 1 166545275 [T/C] rs17431003 1 166545748 [A/G] rs7539202 1 166552723 [T/C] rs528816 1 166565815 [A/G] rs510265 1 166568908 [T/G] rs6427019 1 166573473 [T/C] NR_002925 FMO9P Silent rs530690 1 166579080 [T/C] NR_002925 FMO9P Silent rs553928 1 166581706 [A/G] NR_002925 FMO9P EXON Silent rs17472444 1 166591271 [T/C] NR_002925 FMO9P Silent rs2065920 1 166603023 [A/G] rs481045 1 166603496 [T/C] rs3910715 1 166616786 [T/C] rs3845541 1 166618118 [T/G] rs530303 1 166623180 [T/G] rs558843 1 166634216 [T/C] rs563457 1 166634709 [A/G] rs539482 1 166640279 [A/G] rs472293 1 166640635 [T/C] exm2268778 1 166652275 [T/C] rs4657583 1 166652275 [T/C] rs11807188 1 166656798 [T/C] rs579100 1 166674289 [A/C] rs12048648 1 166674984 [A/G] rs4656506 1 166675316 [T/C] rs1855834 1 166693545 [T/C] rs487726 1 166707143 [T/C] rs10918573 1 166718884 [A/G] rs564138 1 166721207 [A/G] rs7549229 1 166729339 [T/C] rs563244 1 166730775 [A/C] rs562445 1 166730812 [T/C] rs858802 1 166767772 [A/G] rs858818 1 166774997 [T/C] rs2205647 1 166778754 [A/C] rs2064067 1 166782438 [T/C] rs12040139 1 166798529 [T/G] 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 variant.8148 1 166819661 [A/G] NM_017542 POGK Silent rs6675033 1 166826655 [T/C] NM_053053 TADA1 EXON Silent exm119889 1 166826838 [T/C] NM_053053 TADA1 EXON Missense_R325H exm119890 1 166826839 [A/G] NM_053053 TADA1 EXON Missense_R325C variant.8149 1 166827356 [T/C] NM_053053 TADA1 EXON Synonymous_Q285Q rs12562794 1 166828957 [A/G] NM_053053 TADA1 Silent exm119904 1 166829517 [A/G] NM_053053 TADA1 EXON Nonsense_R200X exm119905 1 166829522 [T/C] NM_053053 TADA1 EXON Missense_R198Q indel.8151 1 166831472 [D/I] NM_053053 TADA1 EXON rs4656517 1 166856059 [A/G] rs2223221 1 166860471 [T/C] rs1053407 1 166882737 [T/C] NM_199351 ILDR2 EXON Silent rs11108 1 166885604 [A/C] NM_199351 ILDR2 EXON Silent newrs150392323 1 166888532 [D/I] NM_199351 ILDR2 EXON 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 rs6427047 1 166914258 [A/G] NM_199351 ILDR2 Silent newrs141350747 1 166927084 [A/G] NM_199351 ILDR2 EXON Nonsense_R101X exm120004 1 166927278 [T/C] NM_199351 ILDR2 EXON Missense_Q36R rs2075982 1 166929527 [T/G] NM_199351 ILDR2 Silent rs7545911 1 166947681 [A/G] rs11578336 1 166958710 [T/G] NM_032858 MAEL EXON Missense_S41A exm120016 1 166958710 [T/G] NM_032858 MAEL EXON Missense_S41A 1KG_1_166960707 1 166960707 [D/I] NM_032858 MAEL EXON newrs139253424 1 166960715 [A/G] NM_032858 MAEL Silent 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 variant.8159 1 166974510 [T/C] NM_032858 MAEL EXON Nonsense_Q241X indel.8160 1 166974572 [D/I] NM_032858 MAEL EXON rs6693185 1 166978035 [A/G] NM_032858 MAEL Silent rs1952313 1 166980583 [A/G] NM_032858 MAEL Silent exm120065 1 166990950 [T/C] NM_032858 MAEL EXON Missense_V388A exm120069 1 166990992 [A/G] NM_032858 MAEL EXON Missense_N402S rs10918610 1 166997021 [T/C] rs17433906 1 167016898 [A/G] exm2250190 1 167021041 [T/C] rs11736 1 167022262 [T/G] NM_005814 GPA33 EXON Silent 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 rs6666045 1 167024631 [T/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 rs4657629 1 167034382 [A/G] NM_005814 GPA33 Silent exm120117 1 167038173 [T/C] NM_005814 GPA33 EXON Missense_R134H exm120120 1 167038219 [A/C] NM_005814 GPA33 EXON Missense_V119F indel.8165 1 167038306 [I/D] NM_005814 GPA33 EXON exm2275515 1 167038356 [A/G] NM_005814 GPA33 EXON Missense_P73L rs2312489 1 167040788 [A/C] NM_005814 GPA33 Silent exm120134 1 167042622 [T/C] NM_005814 GPA33 EXON Synonymous_T66T newrs148369513 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 rs12131781 1 167050565 [A/G] NM_005814 GPA33 Silent rs1041236 1 167054980 [T/C] NM_005814 GPA33 Silent exm120147 1 167059511 [A/G] NM_005814 GPA33 EXON Missense_M5T rs2281962 1 167059760 [A/G] NM_005814 GPA33 EXON Silent rs2281960 1 167059833 [A/G] NM_005814 GPA33 EXON Silent exm1731624 1 167064097 [A/G] NM_001080426 DUSP27 EXON Missense_R4K rs11588401 1 167069155 [T/C] NM_001080426 DUSP27 Silent rs1590721 1 167070658 [T/C] NM_001080426 DUSP27 Silent rs12122365 1 167082869 [A/G] NM_001080426 DUSP27 Silent 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 rs1410244 1 167088473 [A/C] NM_001080426 DUSP27 Silent 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 var_1_167096898 1 167096898 [T/C] NM_001080426 DUSP27 EXON Nonsense_Q844X 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 1KG_1_167097500 1 167097500 [I/D] NM_001080426 DUSP27 EXON 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 indel.8183 1 167097664 [D/I] NM_001080426 DUSP27 EXON exm120351 1 167097739 [A/C] NM_001080426 DUSP27 EXON Missense_T1124N rs2281959 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 rs7540969 1 167103023 [T/C] rs10918638 1 167111494 [A/G] rs11591049 1 167124187 [T/C] rs6427069 1 167124834 [T/C] rs869714 1 167126250 [T/C] rs904224 1 167126309 [T/G] rs1032608 1 167131321 [T/C] rs1027493 1 167132882 [T/C] rs748800 1 167136728 [A/G] rs7548201 1 167150538 [T/C] exm-rs9803659 1 167156500 [T/C] rs9803659 1 167156500 [T/C] exm2259843 1 167160515 [T/C] rs7529557 1 167168408 [T/G] rs2173296 1 167211104 [A/G] NM_002697,NM_001198786,NR_037163 POU2F1,POU2F1,POU2F1 Silent,Silent,Silent rs12068411 1 167218385 [T/C] NM_002697,NM_001198786,NR_037163 POU2F1,POU2F1,POU2F1 Silent,Silent,Silent rs10800299 1 167247473 [T/C] NM_002697,NM_001198786,NR_037163 POU2F1,POU2F1,POU2F1 Silent,Silent,Silent rs11584337 1 167248664 [T/G] NM_002697,NM_001198786,NR_037163 POU2F1,POU2F1,POU2F1 Silent,Silent,Silent rs266820 1 167256468 [T/C] NM_002697,NM_001198786,NR_037163 POU2F1,POU2F1,POU2F1 Silent,Silent,Silent rs4656538 1 167259755 [A/G] NM_002697,NM_001198786,NR_037163 POU2F1,POU2F1,POU2F1 Silent,Silent,Silent rs12755766 1 167267066 [T/G] NM_002697,NM_001198786,NR_037163 POU2F1,POU2F1,POU2F1 Silent,Silent,Silent rs6677499 1 167269209 [A/G] NM_002697,NM_001198786,NR_037163 POU2F1,POU2F1,POU2F1 Silent,Silent,Silent variant.8184 1 167339452 [T/G] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 Silent,Silent,Silent,Silent rs3736846 1 167339632 [A/C] NM_002697,NM_001198786,NR_037163,NM_001198783 POU2F1,POU2F1,POU2F1,POU2F1 Silent,Silent,Silent,Silent 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 rs870875 1 167399734 [A/C] exm120460 1 167402295 [T/C] NM_000734,NM_198053 CD247,CD247 EXON Missense_R131H,Missense_R132H exm120476 1 167404671 [A/G] NM_000734,NM_198053 CD247,CD247 EXON Silent,Nonsense_Q101X exm120479 1 167407819 [A/C] NM_000734,NM_198053 CD247,CD247 EXON Missense_M96I,Missense_M96I exm1732263 1 167407856 [T/C] NM_000734,NM_198053 CD247,CD247 EXON Missense_D84G,Missense_D84G rs2258497 1 167408073 [A/C] NM_000734,NM_198053 CD247,CD247 Silent,Silent exm-rs840016 1 167408670 [T/C] NM_000734,NM_198053 CD247,CD247 Silent,Silent exm120494 1 167409915 [A/G] NM_000734,NM_198053 CD247,CD247 EXON Missense_F50L,Missense_F50L rs864537 1 167411384 [A/G] NM_000734,NM_198053 CD247,CD247 Silent,Silent exm-rs864537 1 167411384 [A/G] NM_000734,NM_198053 CD247,CD247 Silent,Silent exm-rs2056626 1 167420425 [T/G] NM_000734,NM_198053 CD247,CD247 Silent,Silent rs2988276 1 167431403 [T/C] NM_000734,NM_198053 CD247,CD247 Silent,Silent rs1723016 1 167433056 [T/C] NM_000734,NM_198053 CD247,CD247 Silent,Silent rs10918695 1 167437953 [T/C] NM_000734,NM_198053 CD247,CD247 Silent,Silent rs2995093 1 167445001 [A/G] NM_000734,NM_198053 CD247,CD247 Silent,Silent rs2949655 1 167451850 [A/G] NM_000734,NM_198053 CD247,CD247 Silent,Silent rs16859085 1 167453334 [A/G] NM_000734,NM_198053 CD247,CD247 Silent,Silent rs858553 1 167455145 [A/G] NM_000734,NM_198053 CD247,CD247 Silent,Silent rs10918706 1 167466121 [T/C] NM_000734,NM_198053 CD247,CD247 Silent,Silent rs2982484 1 167477937 [T/C] NM_000734,NM_198053 CD247,CD247 Silent,Silent rs858550 1 167479765 [A/C] NM_000734,NM_198053 CD247,CD247 Silent,Silent rs2982479 1 167484888 [T/G] NM_000734,NM_198053 CD247,CD247 Silent,Silent rs2794984 1 167494622 [T/G] rs6664958 1 167496303 [A/G] rs1737498 1 167499158 [A/G] rs7539688 1 167503548 [T/C] rs16859159 1 167507857 [A/G] exm120507 1 167515350 [T/A] NM_003851 CREG1 EXON Missense_N216I variant.8188 1 167515403 [T/C] NM_003851 CREG1 EXON Nonsense_W198X exm120512 1 167515425 [T/C] NM_003851 CREG1 EXON Missense_K191R rs1737487 1 167523387 [T/C] rs1737481 1 167527216 [A/G] rs1737476 1 167530546 [T/C] exm2250198 1 167531272 [A/G] rs16859247 1 167536744 [T/C] rs16859250 1 167537676 [T/G] rs12032767 1 167545780 [T/C] rs7513712 1 167546460 [A/G] rs767707 1 167560542 [A/G] rs6701488 1 167562816 [A/C] rs7514302 1 167569730 [T/G] rs12039995 1 167571496 [A/G] rs11809621 1 167585884 [T/G] rs1229403 1 167589943 [T/C] rs926521 1 167592532 [T/C] rs1890131 1 167597473 [T/C] rs3738226 1 167611826 [T/C] NM_052862 RCSD1 Silent rs742471 1 167614752 [A/G] NM_052862 RCSD1 Silent rs761078 1 167615368 [T/C] NM_052862 RCSD1 Silent rs6659046 1 167621144 [T/C] NM_052862 RCSD1 Silent rs1229373 1 167632271 [A/G] NM_052862 RCSD1 Silent rs6695906 1 167638557 [A/G] NM_052862 RCSD1 Silent rs1229355 1 167641292 [A/G] NM_052862 RCSD1 Silent rs7511792 1 167652272 [A/C] NM_052862 RCSD1 Silent 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 variant.8190 1 167663335 [T/G] NM_052862 RCSD1 Silent 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 rs1890130 1 167672969 [A/G] NM_052862 RCSD1 Silent indel.8192 1 167673915 [D/I] NM_052862 RCSD1 EXON exm120638 1 167673917 [A/G] NM_052862 RCSD1 EXON Missense_Q412R rs1933075 1 167676364 [A/C] rs12079472 1 167695683 [T/C] NM_001146191,NM_024569,NM_003953 MPZL1,MPZL1,MPZL1 Silent,Silent,Silent rs12566176 1 167697059 [A/C] NM_001146191,NM_024569,NM_003953 MPZL1,MPZL1,MPZL1 Silent,Silent,Silent rs10918751 1 167702255 [A/C] NM_001146191,NM_024569,NM_003953 MPZL1,MPZL1,MPZL1 Silent,Silent,Silent rs16859520 1 167715940 [A/G] NM_001146191,NM_024569,NM_003953 MPZL1,MPZL1,MPZL1 Silent,Silent,Silent rs3753931 1 167722003 [T/C] NM_001146191,NM_024569,NM_003953 MPZL1,MPZL1,MPZL1 Silent,Silent,Silent rs12039424 1 167724850 [A/G] NM_001146191,NM_024569,NM_003953 MPZL1,MPZL1,MPZL1 Silent,Silent,Silent rs6671664 1 167749603 [A/G] NM_001146191,NM_024569,NM_003953 MPZL1,MPZL1,MPZL1 Silent,Silent,Silent rs929137 1 167751269 [A/G] NM_001146191,NM_024569,NM_003953 MPZL1,MPZL1,MPZL1 Silent,Silent,Silent rs3088322 1 167758901 [A/G] NM_001146191,NM_024569,NM_003953 MPZL1,MPZL1,MPZL1 EXON Silent,Silent,Silent rs7605 1 167759281 [T/C] NM_001146191,NM_024569,NM_003953 MPZL1,MPZL1,MPZL1 EXON Silent,Silent,Silent rs10753764 1 167760731 [T/C] NM_001146191,NM_024569,NM_003953 MPZL1,MPZL1,MPZL1 EXON Silent,Silent,Silent exm-rs10918767 1 167763804 [T/G] rs3213588 1 167778843 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Silent,Silent exm120664 1 167778926 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_N1608D,Missense_N1455D exm120665 1 167778932 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_V1606M,Missense_V1453M exm120667 1 167778979 [T/A] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_N1590I,Missense_N1437I exm120669 1 167778994 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_V1585A,Missense_V1432A exm120671 1 167779027 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_T1574M,Missense_T1421M variant.8196 1 167779977 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Nonsense_W1552X,Nonsense_W1399X exm120673 1 167779982 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_C1551R,Missense_C1398R exm120676 1 167780071 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_C1521Y,Missense_C1368Y exm120677 1 167780075 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_V1520I,Missense_V1367I exm120679 1 167780083 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_M1517T,Missense_M1364T exm120680 1 167780086 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_L1516P,Missense_L1363P exm120682 1 167780103 [G/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_C1510W,Missense_C1357W indel.8197 1 167787315 [D/I] NM_018417,NM_001167749 ADCY10,ADCY10 EXON exm120694 1 167787475 [A/T] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_F1439L,Missense_F1286L exm120695 1 167787479 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_N1438S,Missense_N1285S exm120696 1 167791328 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_E1407G,Missense_E1254G exm120700 1 167792333 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_R1361W,Missense_R1208W exm120703 1 167792342 [A/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_V1358L,Missense_V1205L exm120705 1 167792356 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_P1353L,Missense_P1200L rs1476074 1 167793670 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent exm120709 1 167793766 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Nonsense_R1334X,Nonsense_R1181X variant.8200 1 167793888 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent rs1476075 1 167794406 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent exm120728 1 167798636 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_R1207W,Missense_R1054W exm120730 1 167802226 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_G1198R,Missense_G1045R exm120733 1 167802276 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_N1181S,Missense_N1028S variant.8204 1 167803203 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent rs12409150 1 167804738 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent variant.8205 1 167805542 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent exm120744 1 167805621 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_G1079R,Missense_G926R exm120751 1 167805771 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_E1029K,Missense_E876K exm120752 1 167805777 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_P1027S,Missense_P874S indel.8207 1 167806500 [I/D] NM_018417,NM_001167749 ADCY10,ADCY10 EXON rs204267 1 167810373 [T/G] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent rs204264 1 167812359 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent exm1732534 1 167814812 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_H999R,Missense_H846R exm120756 1 167814913 [T/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_D965E,Missense_D812E variant.8209 1 167814933 [A/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Nonsense_E959X,Nonsense_E806X variant.8210 1 167814936 [A/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Nonsense_E958X,Nonsense_E805X exm120766 1 167815068 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_R914C,Missense_R761C indel.8211 1 167815274 [I/D] NM_018417,NM_001167749 ADCY10,ADCY10 EXON exm120772 1 167817632 [T/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_L802M,Missense_L649M rs3738235 1 167823505 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent exm120781 1 167823621 [T/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_K760Q,Missense_K607Q exm120783 1 167823663 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_H746Y,Missense_H593Y rs7512378 1 167825134 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent exm120788 1 167825449 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_I709V,Missense_I556V exm120792 1 167825485 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_I697V,Missense_I544V exm120795 1 167825532 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_A681V,Missense_A528V variant.8213 1 167830109 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Synonymous_Q603Q,Synonymous_Q450Q variant.8214 1 167830192 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Nonsense_R576X,Nonsense_R423X exm120815 1 167830227 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_V564A,Missense_V411A rs203812 1 167837285 [A/C] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent rs203817 1 167837791 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent var_1_167839538 1 167839539 [D/I] NM_018417,NM_001167749 ADCY10,ADCY10 EXON exm120825 1 167844413 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_M473T,Missense_M320T rs6427113 1 167845787 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent rs203838 1 167847584 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent exm120828 1 167847696 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_R465H,Missense_R312H exm120836 1 167847808 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_D428N,Missense_D275N exm2264915 1 167849414 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Synonymous_G385G,Synonymous_G232G exm120843 1 167849416 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_G385S,Missense_G232S indel.8217 1 167852742 [I/D] NM_018417,NM_001167749 ADCY10,ADCY10 EXON rs1829684 1 167858881 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent exm120866 1 167863161 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_C253Y,Missense_C100Y rs437846 1 167863706 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent exm120869 1 167865871 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_T234M,Missense_T81M exm2273715 1 167865921 [T/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_F217L,Missense_F64L newrs141422393 1 167868722 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Nonsense_W194X,Nonsense_W41X variant.8220 1 167873124 [A/C] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent newrs142062218 1 167873231 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent exm120891 1 167874240 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_D47N,Silent variant.8222 1 167874354 [A/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Nonsense_Q9X,Silent exm120897 1 167874359 [T/G] NM_018417,NM_001167749 ADCY10,ADCY10 EXON Missense_E7A,Silent rs203777 1 167876616 [T/C] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent rs11578481 1 167879655 [T/G] NM_018417,NM_001167749 ADCY10,ADCY10 Silent,Silent rs10489202 1 167903079 [T/G] NR_026550,NM_001143674,NM_015415 MPC2,MPC2,MPC2 Silent,Silent,Silent exm120911 1 167905012 [A/G] NR_026550,NM_001143674,NM_015415 MPC2,MPC2,MPC2 EXON Silent,Missense_M23T,Missense_M23T exm120912 1 167905024 [T/C] NR_026550,NM_001143674,NM_015415 MPC2,MPC2,MPC2 EXON Silent,Missense_K19R,Missense_K19R exm120913 1 167905028 [T/C] NR_026550,NM_001143674,NM_015415 MPC2,MPC2,MPC2 EXON Silent,Missense_D18N,Missense_D18N rs11578006 1 167929037 [T/C] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 Silent,Silent,Silent,Silent exm120920 1 167935880 [A/G] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_C58Y,Missense_C58Y,Missense_C58Y,Silent rs202248 1 167972023 [A/G] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 Silent,Silent,Silent,Silent exm120950 1 167973797 [A/G] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_T382A,Missense_T382A,Missense_T382A,Missense_T351A exm120956 1 167992234 [T/C] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_S520P,Missense_S463P,Silent,Missense_S489P exm120957 1 167992265 [T/C] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_M530T,Missense_M473T,Silent,Missense_M499T exm120963 1 168012292 [T/C] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_I586T,Missense_I529T,Missense_I509T,Missense_I555T exm120970 1 168013847 [A/G] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_D623G,Missense_D566G,Missense_D546G,Missense_D592G exm120972 1 168013850 [T/C] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_V624A,Missense_V567A,Missense_V547A,Missense_V593A exm120973 1 168013865 [A/G] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_E629G,Missense_E572G,Missense_E552G,Missense_E598G exm120974 1 168013876 [A/G] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_A633T,Missense_A576T,Missense_A556T,Missense_A602T exm120978 1 168014138 [T/C] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_T644I,Missense_T587I,Missense_T567I,Missense_T613I exm120979 1 168014177 [A/G] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_N657S,Missense_N600S,Missense_N580S,Missense_N626S exm120987 1 168014344 [A/C] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_T713P,Missense_T656P,Missense_T636P,Missense_T682P exm120991 1 168014447 [A/G] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 EXON Missense_R747Q,Missense_R690Q,Missense_R670Q,Missense_R716Q rs17485889 1 168018840 [T/G] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 Silent,Silent,Silent,Silent rs12069228 1 168026965 [A/G] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 Silent,Silent,Silent,Silent variant.8225 1 168037706 [T/G] NM_001198956,NM_018442,NM_001017977,NM_001198957 DCAF6,DCAF6,DCAF6,DCAF6 Silent,Silent,Silent,Silent rs275149 1 168059866 [A/G] NM_001267609,NM_001267610,NM_001267612,NM_001267614,NM_001267613,NM_001267611,NM_153832 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Synonymous_G400G,Synonymous_G380G,Synonymous_G248G,Synonymous_G266G,Synonymous_G302G,Synonymous_G397G,Synonymous_G380G exm121064 1 168066072 [T/C] NM_001267609,NM_001267610,NM_001267612,NM_001267614,NM_001267613,NM_001267611,NM_153832 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_G278D,Missense_G258D,Missense_G126D,Missense_G144D,Missense_G180D,Missense_G275D,Missense_G258D exm121067 1 168066133 [T/C] NM_001267609,NM_001267610,NM_001267612,NM_001267614,NM_001267613,NM_001267611,NM_153832 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_G258R,Missense_G238R,Missense_G106R,Missense_G124R,Missense_G160R,Missense_G255R,Missense_G238R exm121069 1 168066163 [T/C] NM_001267609,NM_001267610,NM_001267612,NM_001267614,NM_001267613,NM_001267611,NM_153832 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_V248I,Missense_V228I,Missense_V96I,Missense_V114I,Missense_V150I,Missense_V245I,Missense_V228I exm121072 1 168066183 [T/C] NM_001267609,NM_001267610,NM_001267612,NM_001267614,NM_001267613,NM_001267611,NM_153832 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_K241R,Missense_K221R,Missense_K89R,Missense_K107R,Missense_K143R,Missense_K238R,Missense_K221R exm121073 1 168066205 [T/C] NM_001267609,NM_001267610,NM_001267612,NM_001267614,NM_001267613,NM_001267611,NM_153832 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_V234M,Missense_V214M,Missense_V82M,Missense_V100M,Missense_V136M,Missense_V231M,Missense_V214M exm121083 1 168066340 [T/C] NM_001267609,NM_001267610,NM_001267612,NM_001267614,NM_001267613,NM_001267611,NM_153832 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_V189M,Missense_V169M,Missense_V37M,Missense_V55M,Missense_V91M,Missense_V186M,Missense_V169M exm121085 1 168066400 [T/C] NM_001267609,NM_001267610,NM_001267612,NM_001267614,NM_001267613,NM_001267611,NM_153832 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_V169I,Missense_V149I,Missense_V17I,Missense_V35I,Missense_V71I,Missense_V166I,Missense_V149I variant.8228 1 168073715 [T/C] NM_001267609,NM_001267610,NM_001267612,NM_001267614,NM_001267613,NM_001267611,NM_153832 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 EXON Missense_R145H,Missense_R125H,Silent,Silent,Silent,Missense_R142H,Missense_R125H rs11582396 1 168077636 [T/C] NM_001267609,NM_001267610,NM_001267612,NM_001267614,NM_001267613,NM_001267611,NM_153832 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs16828104 1 168090899 [T/C] NM_001267609,NM_001267610,NM_001267612,NM_001267614,NM_001267613,NM_001267611,NM_153832 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11805261 1 168095261 [A/C] NM_001267609,NM_001267610,NM_001267612,NM_001267614,NM_001267613,NM_001267611,NM_153832 GPR161,GPR161,GPR161,GPR161,GPR161,GPR161,GPR161 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2902570 1 168118292 [A/G] rs4657741 1 168149142 [A/G] NM_001031800,NM_152902 TIPRL,TIPRL Silent,Silent exm121112 1 168154019 [T/C] NM_001031800,NM_152902 TIPRL,TIPRL EXON Missense_T96M,Missense_T96M 1KG_1_168154033 1 168154033 [D/I] NM_001031800,NM_152902 TIPRL,TIPRL EXON rs2235207 1 168159262 [T/C] NM_001031800,NM_152902 TIPRL,TIPRL Silent,Silent rs4534357 1 168167139 [A/G] NM_152902 TIPRL Silent rs9659234 1 168182443 [T/C] rs12049577 1 168186174 [T/C] 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 rs2280991 1 168211256 [T/C] NM_199344 SFT2D2 Silent rs2280990 1 168211282 [T/C] NM_199344 SFT2D2 Silent rs10489209 1 168230181 [T/C] exm121172 1 168250410 [T/C] NM_005149 TBX19 EXON Nonsense_Q28X rs1003502 1 168255020 [A/G] NM_005149 TBX19 Silent rs3819818 1 168257331 [A/G] NM_005149 TBX19 Silent exm121181 1 168260481 [T/C] NM_005149 TBX19 EXON Missense_T96M exm121197 1 168262448 [T/C] NM_005149 TBX19 EXON Nonsense_R179X indel.8232 1 168266927 [D/I] NM_005149 TBX19 variant.8233 1 168267028 [A/G] NM_005149 TBX19 Silent 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 variant.8234 1 168274305 [T/C] NM_005149 TBX19 EXON Nonsense_Q263X exm121222 1 168274374 [T/C] NM_005149 TBX19 EXON Nonsense_R286X exm2250205 1 168274385 [A/G] NM_005149 TBX19 EXON Synonymous_R289R rs6427122 1 168274691 [T/C] NM_005149 TBX19 Silent rs1883148 1 168278264 [A/G] NM_005149 TBX19 Silent exm121239 1 168282040 [T/C] NM_005149 TBX19 EXON Missense_L383F rs1008680 1 168285045 [A/G] rs2300575 1 168288835 [A/G] rs2179184 1 168300075 [A/G] rs7512951 1 168309388 [T/C] rs10800356 1 168327555 [T/G] rs2268558 1 168336623 [A/C] rs2268547 1 168353246 [T/C] rs16860487 1 168359043 [A/G] rs2300568 1 168375973 [T/C] NR_037851 LOC100505918 Silent rs12406610 1 168378160 [T/C] NR_037851 LOC100505918 Silent rs4656587 1 168382000 [A/G] NR_037851 LOC100505918 Silent rs1810467 1 168413221 [A/G] rs7535780 1 168418373 [T/C] rs12563551 1 168423843 [T/C] rs858099 1 168426153 [A/C] rs1737168 1 168443178 [A/G] rs10918901 1 168450775 [T/G] rs10918911 1 168460487 [T/C] rs12094807 1 168461703 [T/G] rs6667542 1 168487659 [A/G] rs10918914 1 168489176 [A/G] rs1323530 1 168489847 [T/C] rs7529824 1 168500458 [A/G] rs1933112 1 168521417 [A/G] rs12049040 1 168521615 [A/G] rs1933111 1 168521747 [T/C] rs1933107 1 168524895 [A/G] rs16860907 1 168535352 [A/C] rs2419114 1 168537645 [T/C] rs16860928 1 168542041 [A/G] exm121309 1 168549415 [T/C] NM_002995 XCL1 EXON Missense_I59T rs6687507 1 168549720 [T/C] NM_002995 XCL1 Silent rs6662401 1 168553057 [T/C] rs1933095 1 168556945 [T/C] rs6693141 1 168563895 [A/G] rs1933090 1 168568911 [A/G] rs988724 1 168573041 [T/C] exm2250208 1 168575163 [T/C] rs10800363 1 168575163 [T/C] rs11589732 1 168585289 [A/G] rs10918942 1 168589515 [T/C] rs7355223 1 168589988 [A/G] rs728354 1 168601255 [T/C] rs10800374 1 168606715 [A/G] rs742479 1 168607373 [A/G] rs16861196 1 168611846 [T/C] rs6427139 1 168612925 [A/G] exm-rs1412337 1 168618641 [A/G] rs2064300 1 168625843 [A/G] rs1015001 1 168626707 [A/G] rs1933115 1 168633890 [T/C] rs7416358 1 168653857 [T/C] rs17502304 1 168655627 [A/G] exm121327 1 168665792 [T/C] NM_001937 DPT EXON Missense_V201I exm1733231 1 168665811 [A/G] NM_001937 DPT EXON Synonymous_Y194Y rs524705 1 168665974 [T/C] NM_001937 DPT Silent rs10489360 1 168667989 [A/G] NM_001937 DPT Silent variant.8240 1 168670363 [T/C] NM_001937 DPT Silent rs12122756 1 168671797 [T/C] NM_001937 DPT Silent rs530022 1 168675971 [A/G] NM_001937 DPT Silent rs581753 1 168679692 [A/G] NM_001937 DPT Silent 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 rs545833 1 168689940 [T/C] NM_001937 DPT Silent rs11590043 1 168692615 [A/C] NM_001937 DPT Silent exm121356 1 168698165 [A/C] NM_001937 DPT EXON Missense_S83I rs1052591 1 168698173 [T/C] NM_001937 DPT EXON Synonymous_T80T 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 rs610403 1 168707974 [A/G] rs655128 1 168711459 [T/C] rs6427150 1 168725876 [A/G] rs12065661 1 168734457 [A/G] rs2744666 1 168737147 [A/G] rs2786765 1 168741270 [T/C] rs10800380 1 168741818 [T/C] rs2206300 1 168745136 [T/C] rs17570453 1 168748586 [A/G] rs3738241 1 168758306 [T/C] NR_024160 LINC00626 Silent rs6695006 1 168813241 [A/C] rs2143091 1 168816245 [A/G] rs169266 1 168824111 [T/C] rs1322494 1 168837734 [T/C] rs1885555 1 168851940 [A/G] rs10919006 1 168856283 [A/G] rs10800393 1 168862571 [T/C] rs1407477 1 168863309 [T/C] exm2250211 1 168863309 [T/C] rs4142003 1 168871028 [A/G] rs10919013 1 168882428 [T/C] rs911892 1 168891624 [A/C] rs10737544 1 168891735 [A/G] rs6427160 1 168892181 [T/C] rs882126 1 168907072 [T/C] rs1575330 1 168913482 [A/G] rs12048750 1 168922582 [A/G] rs2984610 1 168929116 [A/G] rs10489371 1 168932500 [A/G] rs3007381 1 168950508 [T/G] rs10800399 1 168956784 [A/C] rs992325 1 168957076 [A/G] rs1322487 1 168960286 [A/G] rs2984600 1 168976442 [T/C] rs7544086 1 168994513 [T/C] rs4656640 1 168996958 [T/G] rs10494476 1 169000494 [A/G] rs10919037 1 169002599 [T/C] rs11580269 1 169005304 [A/C] rs1358713 1 169030878 [A/G] rs10919051 1 169041144 [T/C] rs2051145 1 169070332 [T/C] rs926516 1 169073050 [A/C] rs3766034 1 169087665 [T/C] NM_001677 ATP1B1 Silent rs1040502 1 169088132 [T/C] NM_001677 ATP1B1 Silent rs12731646 1 169090660 [T/C] NM_001677 ATP1B1 Silent rs3753292 1 169091466 [T/C] NM_001677 ATP1B1 Silent 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 rs12724494 1 169112504 [T/C] NM_013330,NM_197972 NME7,NME7 Silent,Silent rs10919075 1 169115833 [A/G] NM_013330,NM_197972 NME7,NME7 Silent,Silent rs1320967 1 169121811 [T/C] NM_013330,NM_197972 NME7,NME7 Silent,Silent rs12023291 1 169134027 [T/C] NM_013330,NM_197972 NME7,NME7 Silent,Silent exm-rs16861990 1 169135127 [A/C] NM_013330,NM_197972 NME7,NME7 Silent,Silent rs4656656 1 169138307 [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 rs1080266 1 169176590 [T/C] NM_013330,NM_197972 NME7,NME7 Silent,Silent rs3766077 1 169180302 [A/G] NM_013330,NM_197972 NME7,NME7 Silent,Silent variant.8244 1 169204377 [A/C] NM_013330,NM_197972 NME7,NME7 EXON Nonsense_E294X,Nonsense_E258X rs12741540 1 169204640 [A/G] NM_013330,NM_197972 NME7,NME7 Silent,Silent rs12733626 1 169255020 [T/G] NM_013330,NM_197972 NME7,NME7 Silent,Silent newrs146620013 1 169256540 [T/C] NM_013330,NM_197972 NME7,NME7 Silent,Silent rs1591733 1 169265836 [T/C] NM_013330,NM_197972 NME7,NME7 Silent,Silent exm121453 1 169267828 [A/G] NM_013330,NM_197972 NME7,NME7 EXON Missense_A205V,Missense_A169V variant.8246 1 169272382 [T/C] NM_013330,NM_197972 NME7,NME7 Silent,Silent 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 indel.8247 1 169279267 [I/D] NM_013330,NM_197972 NME7,NME7 EXON rs10919132 1 169280253 [A/G] NM_013330,NM_197972 NME7,NME7 Silent,Silent rs10800431 1 169291205 [A/G] NM_013330,NM_197972 NME7,NME7 Silent,Silent exm121471 1 169292355 [T/A] NM_013330,NM_197972 NME7,NME7 EXON Missense_K93I,Missense_K57I variant.8249 1 169293703 [T/C] NM_013330,NM_197972 NME7,NME7 EXON Nonsense_W13X,Silent rs7538259 1 169293721 [A/G] NM_013330,NM_197972 NME7,NME7 EXON Synonymous_F7F,Silent kgp7941643 1 169294778 [A/G] NM_013330,NM_197972 NME7,NME7 Silent,Silent 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 variant.8251 1 169346173 [T/C] NM_003666 BLZF1 EXON Nonsense_Q142X indel.8253 1 169347588 [D/I] NM_003666 BLZF1 EXON exm121512 1 169347635 [A/G] NM_003666 BLZF1 EXON Missense_R179H exm121517 1 169347686 [A/G] NM_003666 BLZF1 EXON Missense_R196Q variant.8254 1 169347744 [A/G] NM_003666 BLZF1 EXON Nonsense_W215X variant.8255 1 169347745 [T/C] NM_003666 BLZF1 EXON Nonsense_R216X newrs138335460 1 169349759 [T/C] NM_003666 BLZF1 EXON Nonsense_Q237X 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 variant.8258 1 169356396 [A/C] NM_003666 BLZF1 EXON Nonsense_C393X exm121560 1 169366494 [A/G] NM_021179 C1orf114 EXON Missense_R450W exm121563 1 169366558 [T/G] NM_021179 C1orf114 EXON Missense_E428D rs9783117 1 169368301 [T/C] NM_021179 C1orf114 Silent rs10919164 1 169384437 [T/C] NM_021179 C1orf114 Silent indel.8260 1 169388258 [I/D] NM_021179 C1orf114 EXON exm121572 1 169388390 [T/C] NM_021179 C1orf114 EXON Missense_R359Q exm121574 1 169390675 [T/C] NM_021179 C1orf114 EXON Missense_T332A variant.8264 1 169390741 [A/G] NM_021179 C1orf114 EXON Nonsense_R310X 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 indel.8266 1 169391059 [D/I] NM_021179 C1orf114 EXON exm2273718 1 169391135 [A/G] NM_021179 C1orf114 EXON Synonymous_N178N exm121603 1 169391154 [A/G] NM_021179 C1orf114 EXON Missense_F172S rs3820059 1 169391154 [A/G] NM_021179 C1orf114 EXON Missense_F172S exm121604 1 169391169 [T/C] NM_021179 C1orf114 EXON Missense_E167G exm1733647 1 169394083 [T/G] NM_021179 C1orf114 EXON Missense_N28T rs10800447 1 169431363 [T/C] 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 variant.8271 1 169439202 [T/C] NM_006996 SLC19A2 EXON Missense_G344S 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 rs6427193 1 169448377 [T/C] NM_006996 SLC19A2 Silent rs2187952 1 169481950 [A/G] NM_000130 F5 EXON Silent rs9332678 1 169482115 [T/A] NM_000130 F5 EXON Silent rs2040444 1 169482436 [A/G] NM_000130 F5 EXON Silent exm121681 1 169483561 [T/C] NM_000130 F5 EXON Missense_D2222G variant.8275 1 169483573 [A/G] NM_000130 F5 EXON Missense_L2218P variant.8276 1 169483622 [A/G] NM_000130 F5 EXON Missense_R2202C 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 variant.8279 1 169495162 [A/G] NM_000130 F5 EXON Missense_T1898M exm1733727 1 169497194 [A/C] NM_000130 F5 EXON Missense_G1853V newrs141977229 1 169497306 [A/G] NM_000130 F5 EXON Missense_P1816S exm121732 1 169497306 [A/G] NM_000130 F5 EXON Missense_P1816S exm121733 1 169497321 [A/T] NM_000130 F5 EXON Missense_M1811L variant.8282 1 169498919 [T/C] NM_000130 F5 EXON Nonsense_W1782X rs6030 1 169498975 [T/C] NM_000130 F5 EXON Missense_M1764V 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 indel.8285 1 169500111 [D/I] NM_000130 F5 EXON 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 indel.8287 1 169511316 [I/D] NM_000130 F5 EXON exm121862 1 169511389 [A/C] NM_000130 F5 EXON Missense_R980L variant.8288 1 169511390 [A/G] NM_000130 F5 EXON Missense_R980C 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 1KG_1_169512078 1 169512078 [I/D] NM_000130 F5 EXON exm121924 1 169512109 [T/C] NM_000130 F5 EXON Missense_R740Q rs6016 1 169512120 [A/G] NM_000130 F5 EXON Synonymous_I736I exm121929 1 169512199 [T/C] NM_000130 F5 EXON Missense_H710R exm2231787 1 169512296 [T/C] NM_000130 F5 EXON Missense_K678E variant.8291 1 169512296 [T/C] NM_000130 F5 EXON Missense_K678E exm121936 1 169512319 [C/G] NM_000130 F5 EXON Missense_P670R exm2250216 1 169513583 [T/G] NM_000130 F5 EXON Synonymous_T642T exm121943 1 169513583 [T/G] NM_000130 F5 EXON Synonymous_T642T rs3766110 1 169515183 [A/C] NM_000130 F5 Silent exm121962 1 169519086 [C/G] NM_000130 F5 EXON Missense_L522V rs6020 1 169519112 [T/C] NM_000130 F5 EXON Missense_R513K 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 indel.8293 1 169524460 [I/D] NM_000130 F5 EXON exm121985 1 169524517 [A/G] NM_000130 F5 EXON Missense_R341C newrs118203905 1 169524538 [T/C] NM_000130 F5 EXON Missense_R334G exm121989 1 169524542 [T/G] NM_000130 F5 EXON Missense_K332N variant.8296 1 169525925 [T/C] NM_000130 F5 EXON Missense_G304E exm2259849 1 169527856 [T/C] NM_000130 F5 Silent rs3766117 1 169527856 [T/C] NM_000130 F5 Silent var_1_169528429 1 169528429 [A/C] NM_000130 F5 EXON Missense_M231R 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 rs6029 1 169529973 [T/C] NM_000130 F5 EXON Synonymous_A135A exm122022 1 169529974 [A/G] NM_000130 F5 EXON Missense_A135V rs1894702 1 169530837 [T/G] NM_000130 F5 Silent exm122025 1 169541513 [C/G] NM_000130 F5 EXON Missense_D107H rs6691048 1 169542135 [T/C] NM_000130 F5 Silent rs6028 1 169551682 [T/C] NM_000130 F5 EXON Synonymous_Q79Q exm122035 1 169555519 [T/C] NM_000130 F5 EXON Missense_V36M exm122036 1 169555582 [T/C] NM_000130 F5 EXON Missense_G15S rs1018828 1 169557734 [T/G] exm122039 1 169559396 [A/G] NM_003005 SELP EXON Missense_P828L variant.8300 1 169559441 [A/C] NM_003005 SELP Silent 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 indel.8302 1 169564009 [I/D] NM_003005 SELP EXON 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 rs6133 1 169565346 [A/C] NM_003005 SELP EXON Missense_V640L exm122077 1 169565372 [A/C] NM_003005 SELP EXON Missense_G631V variant.8305 1 169566254 [T/C] NM_003005 SELP EXON Nonsense_W622X exm122081 1 169566265 [A/C] NM_003005 SELP EXON Missense_S619A rs6127 1 169566313 [T/C] NM_003005 SELP EXON Missense_D603N exm122086 1 169566313 [T/C] NM_003005 SELP EXON Missense_D603N rs760694 1 169568698 [T/G] NM_003005 SELP Silent rs3917775 1 169571076 [T/C] NM_003005 SELP Silent exm122094 1 169572289 [T/C] NM_003005 SELP EXON Nonsense_W560X exm122095 1 169572294 [A/G] NM_003005 SELP EXON Missense_R559C newrs144413164 1 169572303 [A/G] NM_003005 SELP EXON Nonsense_R556X exm122104 1 169572434 [T/G] NM_003005 SELP EXON Missense_P512H rs2205895 1 169572645 [T/C] NM_003005 SELP Silent 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 variant.8311 1 169578741 [A/C] NM_003005 SELP Silent 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 variant.8312 1 169581498 [T/G] NM_003005 SELP EXON Nonsense_C306X 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 newrs143425360 1 169586464 [A/G] NM_003005 SELP EXON Nonsense_R95X 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 rs2236866 1 169596313 [A/T] NM_003005 SELP Silent rs1800805 1 169601281 [T/C] exm-rs1569476 1 169608917 [T/C] rs17589700 1 169614949 [A/G] rs10800463 1 169623104 [A/G] rs1569475 1 169623680 [T/C] rs6663862 1 169648469 [A/G] rs7531806 1 169651044 [A/G] rs4987389 1 169658509 [T/A] rs12938 1 169660781 [A/G] NM_000655,NR_029467 SELL,SELL EXON Silent,Silent exm122202 1 169660939 [T/C] NM_000655,NR_029467 SELL,SELL EXON Missense_N382D,Silent rs2223286 1 169665632 [T/C] NM_000655,NR_029467 SELL,SELL Silent,Silent exm122207 1 169670700 [T/C] NM_000655,NR_029467 SELL,SELL Silent,Silent exm122209 1 169670822 [T/G] NM_000655,NR_029467 SELL,SELL EXON Missense_D333E,Silent rs964555 1 169671088 [A/C] NM_000655,NR_029467 SELL,SELL Silent,Silent exm122215 1 169673838 [A/G] NM_000655,NR_029467 SELL,SELL EXON Missense_P226S,Silent rs4987310 1 169673838 [A/G] NM_000655,NR_029467 SELL,SELL EXON Missense_P226S,Silent exm122219 1 169673874 [C/G] NM_000655,NR_029467 SELL,SELL EXON Missense_E214Q,Silent exm122222 1 169676486 [A/G] NM_000655,NR_029467 SELL,SELL EXON Missense_F206L,Silent rs1051091 1 169677709 [A/G] NM_000655,NR_029467 SELL,SELL EXON Synonymous_L120L,Silent indel.8319 1 169677847 [I/D] NM_000655,NR_029467 SELL,SELL EXON exm122237 1 169677923 [G/C] NM_000655,NR_029467 SELL,SELL EXON Missense_T49S,Silent exm122239 1 169679619 [A/G] NM_000655 SELL EXON Missense_W28R variant.8321 1 169680637 [T/C] NM_000655 SELL EXON Missense_M14I rs4786 1 169692132 [T/C] NM_000450 SELE EXON Silent 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 variant.8323 1 169699572 [T/C] NM_000450 SELE Silent rs3917419 1 169699819 [A/G] NM_000450 SELE Silent rs2179172 1 169700155 [A/C] NM_000450 SELE Silent 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 variant.8326 1 169702717 [A/C] NM_000450 SELE EXON Missense_V13L rs10489182 1 169710669 [A/G] rs969310 1 169719338 [A/G] rs12027035 1 169738202 [T/G] rs2205851 1 169739650 [T/C] rs12035144 1 169749154 [A/G] rs10919242 1 169755988 [T/C] rs10157266 1 169756389 [A/G] 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 indel.8328 1 169762232 [D/I] NM_033418 METTL18 EXON 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 rs10489177 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 variant.8332 1 169773244 [T/G] NM_018186 C1orf112 EXON Nonsense_L114X 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 rs9803860 1 169794359 [A/G] NM_018186 C1orf112 Silent 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 indel.8336 1 169798483 [I/D] NM_018186 C1orf112 EXON var_1_169799487 1 169799487 [A/G] NM_018186 C1orf112 Silent exm122537 1 169799880 [T/G] NM_018186 C1orf112 EXON Missense_A481S variant.8338 1 169799889 [A/G] NM_018186 C1orf112 Silent rs7521700 1 169802760 [T/G] NM_018186 C1orf112 Silent 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 indel.8340 1 169816871 [D/I] NM_018186 C1orf112 EXON exm122573 1 169816943 [A/G] NM_018186 C1orf112 EXON Missense_Q686R rs2272918 1 169818880 [A/G] NM_018186 C1orf112 Silent rs3817859 1 169819065 [A/G] NM_018186 C1orf112 Silent exm122584 1 169820962 [A/G] NM_018186 C1orf112 EXON Missense_G750E variant.8341 1 169821006 [T/C] NM_018186 C1orf112 EXON Nonsense_Q765X exm122590 1 169821055 [A/C] NM_018186 C1orf112 EXON Missense_E781A indel.8342 1 169822860 [I/D] NM_181093,NM_020423 SCYL3,SCYL3 EXON 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 rs1062976 1 169823660 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Synonymous_V640V,Synonymous_V586V 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 variant.8345 1 169833510 [A/C] NM_181093,NM_020423 SCYL3,SCYL3 EXON Missense_D319Y,Missense_D319Y rs4508080 1 169834216 [T/C] NM_181093,NM_020423 SCYL3,SCYL3 Silent,Silent 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 rs6670818 1 169869344 [A/G] rs16862751 1 169884386 [A/G] rs2485462 1 169886210 [A/G] exm122689 1 169890903 [T/C] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_G687S,Missense_G721S,Missense_G725S,Missense_G765S rs10919271 1 169905053 [A/G] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent variant.8347 1 169930182 [A/G] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent variant.8348 1 169930186 [A/C] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent exm122698 1 169930214 [T/C] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_E638K,Missense_E672K,Missense_E676K,Missense_E716K variant.8350 1 169947225 [T/C] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent exm122706 1 169951967 [T/A] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_E438D,Missense_E472D,Missense_E476D,Missense_E516D exm2250222 1 169951997 [T/C] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Synonymous_G428G,Synonymous_G462G,Synonymous_G466G,Synonymous_G506G indel.8351 1 169952519 [I/D] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON exm122715 1 169953815 [A/C] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_F356C,Missense_F390C,Missense_F394C,Missense_F434C rs546894 1 169956450 [T/C] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent rs16862933 1 169985796 [A/G] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent exm-rs1541160 1 169995802 [T/C] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent variant.8353 1 170003512 [T/C] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent exm1734074 1 170007557 [T/C] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Missense_N53D,Missense_N87D,Missense_N91D,Missense_N131D variant.8354 1 170015901 [A/G] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Silent,Nonsense_Q47X,Nonsense_Q51X,Nonsense_Q91X exm122753 1 170015987 [T/C] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Silent,Missense_N18S,Missense_N22S,Missense_N62S exm2231803 1 170016002 [A/C] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Silent,Missense_R13L,Missense_R17L,Missense_R57L rs1330369 1 170017067 [A/C] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 Silent,Silent,Silent,Silent exm122755 1 170024513 [G/C] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Silent,Silent,Silent,Missense_V33L rs12146137 1 170037624 [T/C] NM_001204514,NM_001204516,NM_001204517,NM_014970 KIFAP3,KIFAP3,KIFAP3,KIFAP3 EXON Silent,Silent,Silent,Silent rs11588736 1 170048831 [A/G] rs10919299 1 170067296 [A/G] rs12042109 1 170085453 [A/C] rs10800498 1 170103732 [A/G] rs575119 1 170112399 [A/G] exm122762 1 170115300 [G/C] NM_001136107 METTL11B EXON Missense_D18H exm122764 1 170115331 [T/G] NM_001136107 METTL11B EXON Missense_F28C rs10919307 1 170118691 [A/G] NM_001136107 METTL11B Silent exm122766 1 170129701 [T/C] NM_001136107 METTL11B EXON Missense_M66T exm122769 1 170129827 [T/C] NM_001136107 METTL11B EXON Missense_F108S rs504944 1 170131293 [A/C] NM_001136107 METTL11B Silent 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 variant.8355 1 170135864 [T/G] NM_001136107 METTL11B EXON Nonsense_Y184X variant.8356 1 170136671 [T/C] NM_001136107 METTL11B EXON Nonsense_R209X exm122781 1 170136672 [A/G] NM_001136107 METTL11B EXON Missense_R209Q exm122788 1 170136876 [T/C] NM_001136107 METTL11B EXON Missense_L277P rs11585754 1 170141722 [A/C] rs519459 1 170143426 [A/C] rs486427 1 170145099 [A/C] rs533550 1 170147431 [A/G] rs10919319 1 170152927 [A/C] rs7518785 1 170168182 [T/C] rs10919325 1 170171083 [T/G] rs12043515 1 170171702 [T/C] rs7535510 1 170180338 [T/C] rs6657002 1 170187309 [T/C] rs4437927 1 170196342 [A/G] rs2225588 1 170202563 [A/C] rs983118 1 170206902 [A/G] rs1412788 1 170208425 [A/G] rs12028052 1 170208435 [A/G] rs1412787 1 170208724 [T/C] rs10919336 1 170216805 [A/G] rs10919337 1 170217002 [A/G] rs2019438 1 170220252 [A/G] rs1547282 1 170223350 [A/C] rs1556498 1 170231780 [A/G] rs7517657 1 170237860 [A/G] rs2254605 1 170240085 [A/G] rs2184042 1 170256887 [A/G] rs986032 1 170283044 [A/G] rs1332969 1 170297878 [A/G] rs16863267 1 170299594 [T/C] rs16863314 1 170326065 [T/G] rs1930537 1 170330500 [T/G] rs10919364 1 170336440 [T/C] rs10919369 1 170346164 [T/C] exm2268946 1 170346406 [T/C] rs864299 1 170346406 [T/C] rs1071521 1 170356917 [A/G] rs1112882 1 170363183 [A/G] rs10919388 1 170372503 [A/C] rs6427247 1 170380480 [A/G] rs16863343 1 170391041 [T/C] rs1333141 1 170407926 [T/G] rs6427252 1 170409400 [T/C] rs16863354 1 170416126 [T/G] rs4294468 1 170433781 [A/G] rs12044570 1 170443579 [T/C] rs12119012 1 170446678 [T/C] rs16863397 1 170501167 [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 variant.8359 1 170513986 [A/G] NR_027397,NM_001146039,NM_152281 GORAB,GORAB,GORAB EXON Silent,Missense_R246Q,Missense_R246Q rs16863425 1 170519884 [T/C] NR_027397,NM_152281 GORAB,GORAB Silent,Silent 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 rs913257 1 170521376 [A/G] NR_027397,NM_152281 GORAB,GORAB EXON Silent,Missense_E320K 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 rs12564005 1 170528547 [A/G] rs7535322 1 170554924 [A/G] rs6697185 1 170564545 [A/G] rs7540157 1 170582464 [T/C] rs619456 1 170585832 [A/C] rs577676 1 170587340 [T/C] rs2022373 1 170588594 [T/C] rs639652 1 170612873 [A/G] rs12129225 1 170615833 [T/C] rs608930 1 170617306 [T/G] rs501680 1 170625867 [T/C] exm122864 1 170633397 [T/C] NM_022716,NM_006902 PRRX1,PRRX1 EXON Missense_P13L,Missense_P13L rs659580 1 170633896 [T/C] NM_022716,NM_006902 PRRX1,PRRX1 Silent,Silent rs593479 1 170642899 [T/C] NM_022716,NM_006902 PRRX1,PRRX1 Silent,Silent rs520131 1 170654118 [T/C] NM_022716,NM_006902 PRRX1,PRRX1 Silent,Silent rs17550940 1 170657335 [A/C] NM_022716,NM_006902 PRRX1,PRRX1 Silent,Silent rs513287 1 170664237 [A/G] NM_022716,NM_006902 PRRX1,PRRX1 Silent,Silent 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 rs1476040 1 170700758 [A/G] NM_022716,NM_006902 PRRX1,PRRX1 Silent,Silent 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 rs2421494 1 170715531 [A/G] rs6702078 1 170719666 [A/C] exm2250228 1 170727442 [T/C] rs10919470 1 170762680 [A/G] rs6677593 1 170767276 [A/G] rs2143109 1 170773031 [A/G] rs6664881 1 170805627 [A/G] rs10800546 1 170807586 [A/G] rs3765377 1 170837041 [T/C] rs10489239 1 170856852 [T/C] rs6667186 1 170859317 [A/G] rs979070 1 170897273 [A/G] rs4656815 1 170901445 [A/G] rs6681553 1 170903771 [T/C] rs2143383 1 170907494 [T/G] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent rs6695615 1 170908174 [T/C] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent rs4656233 1 170915133 [T/C] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent 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 variant.8363 1 170928736 [T/G] NM_001163629,NM_025063 MROH9,MROH9 EXON Nonsense_E96X,Nonsense_E96X rs6695676 1 170929213 [T/C] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent indel.8364 1 170931113 [D/I] NM_001163629,NM_025063 MROH9,MROH9 EXON 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 variant.8365 1 170934397 [A/G] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent rs9427206 1 170937288 [T/G] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent 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 variant.8367 1 170952676 [T/G] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent rs16863898 1 170954182 [A/G] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent rs2223610 1 170958136 [T/C] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent rs16863922 1 170959029 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Synonymous_L305L,Synonymous_L305L 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 rs9427214 1 170966813 [A/C] NM_001163629,NM_025063 MROH9,MROH9 Silent,Silent 1KG_1_170967308 1 170967308 [I/D] NM_001163629,NM_025063 MROH9,MROH9 EXON 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 variant.8370 1 170967524 [T/C] NM_001163629,NM_025063 MROH9,MROH9 EXON Silent,Nonsense_Q569X 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 rs16863955 1 171034797 [A/G] rs7474070 1 171050589 [T/C] rs12118296 1 171054550 [T/C] rs12076145 1 171069959 [A/G] NM_001002294,NM_006894 FMO3,FMO3 Silent,Silent variant.8371 1 171072924 [A/G] NM_001002294,NM_006894 FMO3,FMO3 Silent,Silent newrs144935285 1 171072965 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_V58I,Missense_V58I exm1734444 1 171072965 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_V58I,Missense_V58I indel.8373 1 171073015 [D/I] NM_001002294,NM_006894 FMO3,FMO3 EXON newrs72549324 1 171073038 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_M82T,Missense_M82T rs1080197 1 171075997 [T/C] NM_001002294,NM_006894 FMO3,FMO3 Silent,Silent exm1734449 1 171076835 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_N114S,Missense_N114S rs28363546 1 171076887 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Synonymous_R131R,Synonymous_R131R exm123035 1 171076888 [G/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_D132H,Missense_D132H rs1800822 1 171076935 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Synonymous_S147S,Synonymous_S147S newrs72549326 1 171076952 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_P153L,Missense_P153L exm123041 1 171076952 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_P153L,Missense_P153L rs2266782 1 171076966 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_E158K,Missense_E158K exm123042 1 171076966 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_E158K,Missense_E158K kgp12168787 1 171077274 [T/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_G180V,Missense_G180V 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 variant.8382 1 171077363 [T/G] NM_001002294,NM_006894 FMO3,FMO3 Silent,Silent rs10797894 1 171077782 [A/C] NM_001002294,NM_006894 FMO3,FMO3 Silent,Silent rs2235192 1 171079549 [A/C] NM_001002294,NM_006894 FMO3,FMO3 Silent,Silent 1KG_1_171079942 1 171079942 [I/D] NM_001002294,NM_006894 FMO3,FMO3 EXON variant.8383 1 171080024 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_R238Q,Missense_R238Q rs1736557 1 171080080 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_V257M,Missense_V257M exm123062 1 171080080 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_V257M,Missense_V257M rs2075992 1 171080485 [T/C] NM_001002294,NM_006894 FMO3,FMO3 Silent,Silent rs909529 1 171082896 [T/C] NM_001002294,NM_006894 FMO3,FMO3 Silent,Silent exm123064 1 171083149 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_V277A,Missense_V277A rs909530 1 171083174 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Synonymous_N285N,Synonymous_N285N rs2066536 1 171083225 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Synonymous_N302N,Synonymous_N302N newrs61753344 1 171083232 [T/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Nonsense_E305X,Nonsense_E305X rs2266780 1 171083242 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_E308G,Missense_E308G kgp15616966 1 171083288 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Synonymous_D323D,Synonymous_D323D indel.8386 1 171083327 [I/D] NM_001002294,NM_006894 FMO3,FMO3 EXON exm123079 1 171083398 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_L360P,Missense_L360P rs2066532 1 171083403 [C/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_E362Q,Missense_E362Q 1KG_1_171083456 1 171083457 [D/I] NM_001002294,NM_006894 FMO3,FMO3 EXON exm123084 1 171085368 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_M402V,Missense_M402V kgp15838559 1 171085385 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Synonymous_N407N,Synonymous_N407N 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 newrs72549332 1 171086285 [A/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_M434I,Missense_M434I exm123093 1 171086457 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_R492W,Missense_R492W kgp15922089 1 171086461 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_S493L,Missense_S493L exm123099 1 171086488 [T/G] NM_001002294,NM_006894 FMO3,FMO3 EXON Missense_V502G,Missense_V502G indel.8393 1 171086504 [D/I] NM_001002294,NM_006894 FMO3,FMO3 EXON kgp15272661 1 171086513 [T/C] NM_001002294,NM_006894 FMO3,FMO3 EXON Synonymous_F510F,Synonymous_F510F kgp5636706 1 171106931 [A/G] NR_002601 FMO6P EXON Silent kgp15484144 1 171107341 [A/T] NR_002601 FMO6P EXON Silent kgp2882776 1 171107688 [T/C] NR_002601 FMO6P EXON Silent kgp3492515 1 171107737 [T/G] NR_002601 FMO6P EXON Silent rs1920144 1 171110307 [T/C] NR_002601 FMO6P Silent kgp24785030 1 171116865 [A/G] NR_002601 FMO6P EXON Silent kgp24887562 1 171116894 [A/G] NR_002601 FMO6P EXON Silent rs2272797 1 171118840 [A/G] NR_002601 FMO6P EXON Silent rs1795244 1 171119021 [T/C] NR_002601 FMO6P Silent rs7889839 1 171121173 [A/G] NR_002601 FMO6P EXON Silent kgp6541618 1 171121206 [A/T] NR_002601 FMO6P EXON Silent rs7886938 1 171121268 [A/G] NR_002601 FMO6P EXON Silent kgp2938458 1 171123302 [T/C] NR_002601 FMO6P EXON Silent rs7885012 1 171127396 [A/G] NR_002601 FMO6P Silent kgp15654810 1 171130537 [C/G] NR_002601 FMO6P EXON Silent kgp1999495 1 171130539 [G/C] NR_002601 FMO6P EXON Silent kgp22794928 1 171130594 [A/C] NR_002601 FMO6P EXON Silent kgp15710030 1 171130667 [A/G] NR_002601 FMO6P EXON Silent rs11803918 1 171133716 [T/C] rs10912478 1 171136125 [A/G] rs7887295 1 171139823 [A/G] exm2264917 1 171139823 [A/G] rs7545752 1 171148521 [A/G] exm2268947 1 171151991 [T/G] rs3754495 1 171153448 [T/G] rs28369797 1 171154418 [T/C] NM_001460 FMO2 EXON Silent variant.8394 1 171154846 [A/G] NM_001460 FMO2 Silent rs2020870 1 171154959 [A/G] NM_001460 FMO2 EXON Missense_D36G rs11806072 1 171156997 [A/G] NM_001460 FMO2 Silent SNP42 1 171162516 [A/G] NM_001460 FMO2 EXON Missense_V59I exm123130 1 171162516 [A/G] NM_001460 FMO2 EXON Missense_V59I exm123134 1 171162583 [T/C] NM_001460 FMO2 EXON Missense_F81S rs2020860 1 171162583 [T/C] NM_001460 FMO2 EXON Missense_F81S variant.8395 1 171162660 [T/C] NM_001460 FMO2 EXON Nonsense_Q107X exm123146 1 171168497 [T/C] NM_001460 FMO2 EXON Missense_F166S exm123148 1 171168521 [A/G] NM_001460 FMO2 EXON Missense_R174H rs2307492 1 171168545 [T/C] NM_001460 FMO2 EXON Missense_F182S exm123149 1 171168545 [T/C] NM_001460 FMO2 EXON Missense_F182S exm123152 1 171168584 [T/C] NM_001460 FMO2 EXON Missense_S195L kgp11839632 1 171168585 [A/G] NM_001460 FMO2 EXON Synonymous_S195S indel.8396 1 171168608 [I/D] NM_001460 FMO2 EXON 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 indel.8398 1 171174438 [I/D] NM_001460 FMO2 EXON exm123168 1 171174462 [A/G] NM_001460 FMO2 EXON Missense_R291H 1KG_1_171174481 1 171174481 [I/D] NM_001460 FMO2 EXON exm123172 1 171174531 [A/G] NM_001460 FMO2 EXON Missense_E314G kgp25288372 1 171174613 [A/T] NM_001460 FMO2 EXON Synonymous_S341S variant.8400 1 171174774 [A/G] NM_001460 FMO2 Silent kgp15702103 1 171176879 [A/G] NM_001460 FMO2 EXON Synonymous_E402E exm123191 1 171176912 [T/G] NM_001460 FMO2 EXON Missense_N413K rs28369912 1 171177939 [A/G] NM_001460 FMO2 EXON Synonymous_G421G variant.8401 1 171177952 [T/C] NM_001460 FMO2 EXON Nonsense_Q426X exm123195 1 171177968 [A/C] NM_001460 FMO2 EXON Missense_N431T exm123200 1 171178002 [G/C] NM_001460 FMO2 EXON Missense_E442D indel.8402 1 171178075 [D/I] NM_001460 FMO2 EXON rs6661174 1 171178090 [T/C] NM_001460 FMO2 EXON Missense_X472Q exm123207 1 171178090 [T/C] NM_001460 FMO2 EXON Missense_X472Q rs2020869 1 171178152 [A/G] NM_001460 FMO2 EXON Silent kgp15846601 1 171178231 [T/C] NM_001460 FMO2 EXON Silent kgp22791288 1 171178265 [T/G] NM_001460 FMO2 EXON Silent rs28369914 1 171178490 [T/C] NM_001460 FMO2 EXON Silent rs28369915 1 171178626 [D/I] NM_001460 FMO2 EXON kgp15870916 1 171178983 [T/C] NM_001460 FMO2 EXON Silent rs7512785 1 171179287 [T/C] NM_001460 FMO2 EXON Silent rs7515157 1 171179477 [T/C] NM_001460 FMO2 EXON Silent kgp15657542 1 171179645 [A/G] NM_001460 FMO2 EXON Silent kgp7005320 1 171179670 [C/G] NM_001460 FMO2 EXON Silent kgp11485019 1 171179779 [A/G] NM_001460 FMO2 EXON Silent kgp15487142 1 171179814 [A/C] NM_001460 FMO2 EXON Silent kgp3405821 1 171180071 [A/G] NM_001460 FMO2 EXON Silent kgp8191001 1 171180201 [T/C] NM_001460 FMO2 EXON Silent kgp3634609 1 171180485 [T/C] NM_001460 FMO2 EXON Silent kgp25260897 1 171181284 [G/C] NM_001460 FMO2 EXON Silent rs10798271 1 171187987 [T/C] rs7551531 1 171214880 [A/G] rs17350523 1 171217445 [T/C] kgp6353310 1 171217691 [A/C] NM_002021 FMO1 EXON Silent rs4916191 1 171218287 [A/G] NM_002021 FMO1 Silent rs13353034 1 171220811 [T/C] NM_002021 FMO1 Silent rs4073692 1 171221917 [A/G] NM_002021 FMO1 Silent variant.8403 1 171227358 [T/C] NM_002021 FMO1 EXON Synonymous_T44T exm123223 1 171236840 [G/C] NM_002021 FMO1 EXON Missense_H97Q exm2231813 1 171244603 [C/G] NM_002021 FMO1 EXON Missense_T147S rs2076320 1 171244759 [A/C] NM_002021 FMO1 Silent rs10912709 1 171249166 [T/C] NM_002021 FMO1 Silent exm2250233 1 171249957 [A/G] NM_002021 FMO1 EXON Synonymous_V220V variant.8405 1 171249964 [T/C] NM_002021 FMO1 EXON Nonsense_R223X rs16864310 1 171249965 [A/G] NM_002021 FMO1 EXON Missense_R223Q rs28360412 1 171249977 [T/C] NM_002021 FMO1 EXON Missense_S227L exm123239 1 171250000 [T/C] NM_002021 FMO1 EXON Missense_F235L kgp5976211 1 171250044 [T/C] NM_002021 FMO1 EXON Synonymous_T249T exm123243 1 171250049 [T/C] NM_002021 FMO1 EXON Missense_I251T kgp15528650 1 171250107 [A/C] NM_002021 FMO1 EXON Synonymous_G270G kgp15125879 1 171251196 [A/G] NM_002021 FMO1 EXON Missense_I303V exm123251 1 171251197 [T/C] NM_002021 FMO1 EXON Missense_I303T var_1_171251202 1 171251202 [T/G] NM_002021 FMO1 EXON Nonsense_E305X indel.8409 1 171251219 [I/D] NM_002021 FMO1 EXON rs28360419 1 171251253 [A/G] NM_002021 FMO1 EXON Missense_I322V rs28360420 1 171251268 [T/C] NM_002021 FMO1 EXON Missense_F327L 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 variant.8411 1 171251460 [T/C] NM_002021 FMO1 EXON Nonsense_R391X rs7517376 1 171252287 [A/G] NM_002021 FMO1 EXON Synonymous_V396V indel.8412 1 171254405 [D/I] NM_002021 FMO1 EXON exm123271 1 171254471 [A/G] NM_002021 FMO1 EXON Missense_V463I rs28360432 1 171254485 [A/G] NM_002021 FMO1 EXON Synonymous_P467P newrs60639054 1 171254588 [T/C] NM_002021 FMO1 EXON Nonsense_R502X exm123275 1 171254588 [T/C] NM_002021 FMO1 EXON Nonsense_R502X kgp22768118 1 171254671 [T/G] NM_002021 FMO1 EXON Synonymous_L529L kgp15417586 1 171254780 [T/G] NM_002021 FMO1 EXON Silent rs12954 1 171254794 [T/C] NM_002021 FMO1 EXON Silent rs28360434 1 171254804 [A/G] NM_002021 FMO1 EXON Silent kgp15529279 1 171254816 [A/G] NM_002021 FMO1 EXON Silent rs7877 1 171254890 [T/C] NM_002021 FMO1 EXON Silent kgp15581518 1 171254953 [A/C] NM_002021 FMO1 EXON Silent rs10912723 1 171258131 [T/C] exm-rs6660565 1 171261193 [A/G] rs12747080 1 171275804 [A/C] rs6699241 1 171282759 [A/G] kgp15790355 1 171285356 [A/G] NM_002022 FMO4 EXON Silent kgp24961317 1 171285439 [T/C] NM_002022 FMO4 EXON Silent exm123284 1 171289074 [T/C] NM_002022 FMO4 EXON Missense_I37T indel.8415 1 171292176 [I/D] NM_002022 FMO4 EXON exm2231814 1 171293301 [T/C] NM_002022 FMO4 EXON Missense_R116C rs16864395 1 171294681 [T/C] NM_002022 FMO4 Silent exm123303 1 171300853 [A/G] NM_002022 FMO4 EXON Missense_V187I variant.8417 1 171300907 [T/C] NM_002022 FMO4 EXON Nonsense_R205X exm123305 1 171300908 [A/G] NM_002022 FMO4 EXON Missense_R205Q rs12044691 1 171301303 [A/G] NM_002022 FMO4 Silent 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 indel.8418 1 171301990 [I/D] NM_002022 FMO4 EXON rs3737926 1 171303565 [T/C] NM_002022 FMO4 EXON Synonymous_F281F rs3737925 1 171303644 [A/T] NM_002022 FMO4 EXON Missense_T308S kgp24774885 1 171303688 [T/C] NM_002022 FMO4 EXON Synonymous_D322D kgp15488814 1 171303690 [T/C] NM_002022 FMO4 EXON Missense_V323A 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 kgp25306224 1 171303836 [A/G] NM_002022 FMO4 EXON Missense_G372S variant.8420 1 171303878 [T/C] NM_002022 FMO4 EXON Nonsense_R386X kgp25047116 1 171308077 [T/C] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp15514302 1 171308127 [A/C] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp25179608 1 171308234 [T/C] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp15532970 1 171308239 [T/C] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp25316732 1 171308388 [T/C] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp15444435 1 171308469 [A/G] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp24878150 1 171308666 [A/G] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent rs2223477 1 171308832 [A/G] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp15233334 1 171308881 [A/T] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp15163969 1 171308897 [A/T] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp15549120 1 171309050 [A/G] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp15870487 1 171309222 [T/C] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent kgp15790715 1 171309310 [T/C] NM_002022,NR_002719 FMO4,TOP1P1 EXON Silent,Silent exm123337 1 171310562 [A/C] NM_002022 FMO4 EXON Missense_K421Q exm123348 1 171310775 [A/G] NM_002022 FMO4 EXON Missense_R492G var_1_171310791 1 171310792 [I/D] NM_002022 FMO4 EXON newrs145740321 1 171310799 [T/C] NM_002022 FMO4 EXON Nonsense_R500X exm123352 1 171310844 [T/G] NM_002022 FMO4 EXON Missense_L515V variant.8423 1 171310855 [A/G] NM_002022 FMO4 EXON Nonsense_W518X exm123354 1 171310901 [T/C] NM_002022 FMO4 EXON Missense_S534P variant.8424 1 171310970 [T/C] NM_002022 FMO4 EXON Nonsense_R557X kgp15360711 1 171311154 [T/C] NM_002022 FMO4 EXON Silent rs2235510 1 171314142 [T/C] rs1963273 1 171322446 [T/C] rs6670432 1 171324017 [A/G] rs1018392 1 171353864 [T/C] rs7515001 1 171356755 [A/G] rs4916375 1 171362841 [T/C] rs2421809 1 171371998 [A/G] rs2207188 1 171379002 [A/G] rs2207189 1 171388916 [T/C] rs7519763 1 171389475 [T/C] rs2143934 1 171393060 [A/G] rs7540116 1 171393787 [T/C] rs4579793 1 171394212 [T/C] rs6682065 1 171397553 [T/C] rs10912993 1 171404591 [T/C] rs2207190 1 171415856 [A/G] rs10913039 1 171417202 [T/C] rs6670505 1 171426448 [A/C] rs10798416 1 171429273 [A/G] rs10489247 1 171434331 [T/G] rs7544906 1 171435477 [A/G] rs4916388 1 171463300 [T/C] NM_015172 PRRC2C Silent rs12403390 1 171464420 [A/G] NM_015172 PRRC2C Silent rs4384265 1 171478523 [A/G] NM_015172 PRRC2C Silent variant.8425 1 171484998 [A/G] NM_015172 PRRC2C EXON Missense_N174D exm123379 1 171486912 [A/G] NM_015172 PRRC2C EXON Missense_A235T rs10913157 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 rs2272810 1 171511442 [A/G] NM_015172 PRRC2C Silent exm123515 1 171514764 [T/G] NM_015172 PRRC2C EXON Missense_G1635V rs235470 1 171519487 [A/C] NM_015172 PRRC2C Silent exm123521 1 171526416 [A/G] NM_015172 PRRC2C EXON Missense_S1720N rs12025905 1 171526910 [A/G] NM_015172 PRRC2C EXON Missense_A1885T 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 rs764206 1 171545051 [A/G] NM_015172 PRRC2C Silent 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 rs171005 1 171576573 [T/G] rs235864 1 171588583 [T/C] rs235852 1 171591818 [T/C] rs235853 1 171592553 [A/G] rs235854 1 171592869 [A/C] rs6425356 1 171597996 [T/C] rs235881 1 171603547 [T/C] exm123635 1 171605081 [T/C] NM_000261 MYOC EXON Missense_K500R indel.8434 1 171605118 [I/D] NM_000261 MYOC EXON variant.8435 1 171605168 [T/C] NM_000261 MYOC EXON Missense_Y471C 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 variant.8440 1 171605642 [A/G] NM_000261 MYOC EXON Missense_S313F exm123658 1 171605673 [T/G] NM_000261 MYOC EXON Missense_L303I variant.8441 1 171605682 [T/C] NM_000261 MYOC EXON Missense_E300K exm123662 1 171605702 [T/G] NM_000261 MYOC EXON Missense_T293K variant.8443 1 171605766 [A/G] NM_000261 MYOC EXON Nonsense_R272X variant.8444 1 171605770 [T/C] NM_000261 MYOC EXON Nonsense_W270X 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 rs604864 1 171608466 [T/C] NM_000261 MYOC Silent rs2236875 1 171614683 [T/G] NM_000261 MYOC Silent rs235913 1 171618656 [T/G] NM_000261 MYOC Silent variant.8446 1 171621279 [T/C] NM_000261 MYOC EXON Missense_R158Q exm123679 1 171621297 [A/G] NM_000261 MYOC EXON Missense_L152P exm123680 1 171621312 [T/C] NM_000261 MYOC EXON Missense_R147Q variant.8447 1 171621313 [A/G] NM_000261 MYOC EXON Nonsense_R147X 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 rs11799938 1 171640888 [A/C] rs10913482 1 171652583 [T/C] rs9661596 1 171652664 [A/G] rs9943293 1 171654968 [T/C] rs236894 1 171669823 [A/G] NR_033704,NM_001185127,NM_003762 VAMP4,VAMP4,VAMP4 EXON Silent,Silent,Silent rs6685742 1 171674774 [A/G] NR_033704,NM_001185127,NM_003762 VAMP4,VAMP4,VAMP4 Silent,Silent,Silent exm123706 1 171678827 [T/C] NR_033704,NM_001185127,NM_003762 VAMP4,VAMP4,VAMP4 EXON Silent,Missense_Q107R,Missense_Q108R rs1001373 1 171684506 [A/G] NR_033704,NM_001185127,NM_003762 VAMP4,VAMP4,VAMP4 Silent,Silent,Silent exm1734815 1 171688351 [A/G] NR_033704,NM_001185127,NM_003762 VAMP4,VAMP4,VAMP4 EXON Silent,Missense_S41P,Missense_S42P exm123713 1 171707490 [G/C] NR_033704,NM_001185127,NM_003762 VAMP4,VAMP4,VAMP4 EXON Silent,Missense_R22T,Missense_R22T rs17649050 1 171713808 [C/G] rs6665581 1 171721146 [T/C] rs10157510 1 171722990 [T/C] rs7545663 1 171731932 [T/G] rs10913625 1 171732378 [T/G] rs12032340 1 171735198 [A/C] rs2232807 1 171750095 [T/C] rs2294719 1 171751051 [A/G] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Silent,Silent,Silent variant.8457 1 171751265 [A/G] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 Silent,Silent,Silent exm123727 1 171753039 [A/G] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Missense_M19V,Missense_M105V,Missense_M105V rs2232816 1 171753039 [A/G] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Missense_M19V,Missense_M105V,Missense_M105V exm123732 1 171753241 [A/G] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Missense_G86D,Missense_G172D,Silent newrs150322704 1 171753321 [T/C] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Nonsense_Q113X,Nonsense_Q199X,Silent exm1734943 1 171753456 [A/G] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Missense_E158K,Missense_E244K,Silent variant.8462 1 171753594 [T/C] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Missense_P204S,Missense_P290S,Silent exm123755 1 171753612 [T/C] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Missense_R210W,Missense_R296W,Silent variant.8463 1 171753639 [A/G] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Missense_I219V,Missense_I305V,Silent exm123761 1 171755071 [A/G] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Synonymous_K236K,Synonymous_K322K,Synonymous_K166K exm2250237 1 171755071 [A/G] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Synonymous_K236K,Synonymous_K322K,Synonymous_K166K rs2232818 1 171755170 [A/G] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Synonymous_S269S,Synonymous_S355S,Synonymous_S199S exm123765 1 171755180 [T/A] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Missense_M273L,Missense_M359L,Missense_M203L exm123766 1 171755182 [A/G] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Missense_M273I,Missense_M359I,Missense_M203I exm123767 1 171755199 [G/C] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Missense_G279A,Missense_G365A,Missense_G209A exm123773 1 171756954 [A/G] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Missense_Y312C,Missense_Y398C,Missense_Y242C exm123782 1 171759627 [T/C] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Missense_R363W,Missense_R449W,Missense_R293W exm123786 1 171761155 [A/G] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 Silent,Silent,Silent indel.8468 1 171763551 [I/D] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON exm123799 1 171763595 [A/C] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Missense_M499L,Missense_M585L,Missense_M429L exm123802 1 171763662 [A/C] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Missense_P521H,Missense_P607H,Missense_P451H exm123804 1 171765628 [T/C] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Missense_F525S,Missense_F611S,Missense_F455S rs1801898 1 171765964 [A/G] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Silent,Silent,Silent rs12140193 1 171766580 [T/G] NM_014955,NM_015935,NM_001007239 METTL13,METTL13,METTL13 EXON Silent,Silent,Silent rs6700184 1 171781952 [T/C] rs2206542 1 171788782 [A/G] rs6425438 1 171791211 [T/C] rs10753195 1 171797731 [T/G] exm2250238 1 171805322 [A/G] rs2294723 1 171808405 [A/C] rs6701033 1 171809976 [T/C] rs10798722 1 171829164 [T/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs2901600 1 171835654 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs2206544 1 171842607 [T/C] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs4916239 1 171870596 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs6425479 1 171881168 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs2901603 1 171885747 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs6673009 1 171901805 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs12084926 1 171903833 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs12028426 1 171927696 [T/C] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs12025243 1 171932737 [T/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs10914127 1 171943948 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs10910863 1 171960993 [T/C] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs1073940 1 171977284 [T/C] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent exm123838 1 172002280 [A/G] NM_001136127,NM_015569 DNM3,DNM3 EXON Missense_I242V,Missense_I242V rs9286842 1 172004114 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs10910945 1 172004280 [T/C] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent variant.8472 1 172007601 [A/C] NM_001136127,NM_015569 DNM3,DNM3 EXON Missense_Q331P,Missense_Q331P var_1_172013549 1 172013549 [T/C] NM_001136127,NM_015569 DNM3,DNM3 EXON Nonsense_R385X,Nonsense_R385X var_1_172013597 1 172013597 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs2057302 1 172018734 [T/C] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs12091015 1 172019718 [T/C] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs16843795 1 172040583 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent exm-rs17346452 1 172053287 [T/C] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent variant.8475 1 172062870 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs4075021 1 172063516 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs17350579 1 172066592 [T/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs733190 1 172095226 [T/C] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs10489299 1 172101666 [T/C] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs10911112 1 172118780 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs1475230 1 172128536 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs17361886 1 172137019 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs672740 1 172137119 [T/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs551742 1 172137526 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs515060 1 172153224 [T/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs583578 1 172156886 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs598562 1 172164499 [T/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs633995 1 172186729 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent exm-rs678962 1 172189889 [T/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs678962 1 172189889 [T/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs479336 1 172199573 [T/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent exm2265057 1 172206026 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs12082431 1 172234627 [T/C] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs2421992 1 172241251 [T/C] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs2586393 1 172256116 [T/C] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs2757489 1 172264193 [T/C] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs2757493 1 172267419 [T/C] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs10752932 1 172267554 [T/C] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs2757502 1 172281341 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs9425287 1 172296601 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent variant.8477 1 172308193 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs9425291 1 172312769 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs1894633 1 172331059 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent exm-rs1011731 1 172346548 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent newrs139523475 1 172348322 [T/C] NM_001136127,NM_015569 DNM3,DNM3 EXON Synonymous_N682N,Synonymous_N686N rs1023479 1 172355132 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent exm123895 1 172356367 [A/G] NM_001136127,NM_015569 DNM3,DNM3 EXON Missense_R714H,Missense_R718H rs6424894 1 172365330 [A/G] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs1029319 1 172371707 [T/C] NM_001136127,NM_015569 DNM3,DNM3 Silent,Silent rs2422139 1 172390896 [A/G] NM_139240 C1orf105 Silent exm123917 1 172410967 [A/G] NM_139240,NM_002642,NM_153747 C1orf105,PIGC,PIGC EXON Silent,Missense_P266S,Missense_P266S rs1063412 1 172410967 [A/G] NM_139240,NM_002642,NM_153747 C1orf105,PIGC,PIGC EXON Silent,Missense_P266S,Missense_P266S exm123930 1 172411318 [T/C] NM_139240,NM_002642,NM_153747 C1orf105,PIGC,PIGC EXON Silent,Missense_I149V,Missense_I149V exm123933 1 172411374 [A/G] NM_139240,NM_002642,NM_153747 C1orf105,PIGC,PIGC EXON Silent,Missense_T130I,Missense_T130I exm123934 1 172411433 [A/C] NM_139240,NM_002642,NM_153747 C1orf105,PIGC,PIGC EXON Silent,Missense_K110N,Missense_K110N exm123936 1 172411455 [A/G] NM_139240,NM_002642,NM_153747 C1orf105,PIGC,PIGC EXON Silent,Missense_I103T,Missense_I103T indel.8480 1 172411457 [D/I] NM_139240,NM_002642,NM_153747 C1orf105,PIGC,PIGC EXON 1KG_1_172411495 1 172411495 [I/D] NM_139240,NM_002642,NM_153747 C1orf105,PIGC,PIGC EXON exm123940 1 172411516 [A/G] NM_139240,NM_002642,NM_153747 C1orf105,PIGC,PIGC EXON Silent,Missense_H83Y,Missense_H83Y exm1735421 1 172411518 [A/G] NM_139240,NM_002642,NM_153747 C1orf105,PIGC,PIGC EXON Silent,Missense_P82L,Missense_P82L indel.8481 1 172411570 [D/I] NM_139240,NM_002642,NM_153747 C1orf105,PIGC,PIGC EXON exm123945 1 172411702 [A/G] NM_139240,NM_002642,NM_153747 C1orf105,PIGC,PIGC EXON Silent,Nonsense_R21X,Nonsense_R21X exm123948 1 172414269 [A/C] NM_139240 C1orf105 EXON Missense_N26K variant.8484 1 172414303 [T/C] NM_139240 C1orf105 Silent exm2231826 1 172417598 [T/C] NM_139240 C1orf105 EXON Missense_A42V rs2269613 1 172419651 [T/G] NM_139240 C1orf105 Silent rs6691993 1 172426998 [T/G] NM_139240 C1orf105 Silent 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 rs4244193 1 172435451 [A/C] NM_139240 C1orf105 Silent rs9425329 1 172435851 [T/C] NM_139240 C1orf105 Silent exm123971 1 172437592 [A/G] NM_139240 C1orf105 EXON Missense_S137N indel.8487 1 172437692 [D/I] NM_139240 C1orf105 EXON rs7551242 1 172445883 [A/G] rs6695139 1 172447498 [T/C] rs4916263 1 172450689 [T/G] rs985320 1 172456372 [T/C] rs16844612 1 172459678 [T/C] rs6424956 1 172469707 [A/G] rs10489279 1 172498216 [A/G] rs4338394 1 172501000 [T/G] 1KG_1_172501716 1 172501716 [D/I] indel.8488 1 172501717 [D/I] indel.8489 1 172501824 [D/I] exm124001 1 172520692 [A/G] NM_014283,NM_016227 SUCO,SUCO EXON Missense_A35T,Missense_A35T variant.8494 1 172522399 [A/G] NM_014283,NM_016227 SUCO,SUCO Silent,Silent 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 rs10911920 1 172530687 [T/C] NM_014283,NM_016227 SUCO,SUCO Silent,Silent 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 indel.8496 1 172558329 [D/I] NM_014283,NM_016227 SUCO,SUCO EXON exm124082 1 172558594 [A/G] NM_014283,NM_016227 SUCO,SUCO EXON Missense_S785G,Missense_S741G rs3738736 1 172559323 [A/G] NM_014283,NM_016227 SUCO,SUCO Silent,Silent indel.8497 1 172571235 [I/D] NM_014283,NM_016227 SUCO,SUCO EXON exm124110 1 172571866 [C/G] NM_014283,NM_016227 SUCO,SUCO EXON Missense_L1068F,Missense_L1024F var_1_172577943 1 172577943 [A/G] NM_014283,NM_016227 SUCO,SUCO Silent,Silent exm124133 1 172579244 [T/C] NM_014283,NM_016227 SUCO,SUCO EXON Nonsense_R1204X,Nonsense_R1160X rs10912080 1 172603411 [A/C] rs730278 1 172603940 [T/C] rs2859228 1 172613241 [A/G] exm2250250 1 172615395 [T/C] rs2021838 1 172621538 [T/G] 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 newrs80358238 1 172634776 [A/G] NM_000639 FASLG EXON Missense_R156G rs12135884 1 172638500 [A/G] rs12085277 1 172638660 [A/G] rs859652 1 172654377 [A/G] exm2268948 1 172668340 [T/C] rs7553067 1 172674541 [T/C] rs16844937 1 172692120 [T/C] rs859636 1 172711240 [A/G] rs2022168 1 172724394 [A/G] rs859627 1 172728946 [A/G] rs859715 1 172760122 [T/A] rs11810332 1 172789765 [A/G] rs12066143 1 172814855 [T/C] exm-rs10218696 1 172823534 [A/G] rs12037781 1 172852118 [A/G] exm-rs7517810 1 172853460 [T/C] rs7517810 1 172853460 [T/C] rs9286879 1 172862234 [A/G] exm-rs9286879 1 172862234 [A/G] rs4916288 1 172884872 [T/G] exm-rs12035082 1 172898377 [T/C] rs12037606 1 172898402 [A/G] rs16845151 1 172903801 [T/C] rs10489272 1 172941713 [A/G] rs2901695 1 172961211 [T/G] rs6697964 1 172962496 [A/G] rs1883478 1 172985231 [T/C] rs12067458 1 173005314 [A/G] rs16845308 1 173009832 [T/G] exm124188 1 173010569 [A/C] NM_005092 TNFSF18 EXON Missense_V180F exm124198 1 173010811 [A/G] NM_005092 TNFSF18 EXON Missense_P99L indel.8505 1 173010813 [I/D] NM_005092 TNFSF18 EXON exm124210 1 173020073 [A/T] NM_005092 TNFSF18 EXON Nonsense_C10X rs2422272 1 173049073 [A/G] rs2207061 1 173055352 [A/G] rs16845401 1 173062049 [T/C] rs17372135 1 173094569 [A/G] rs3861948 1 173103273 [T/C] rs6663669 1 173105511 [A/G] rs1234305 1 173117771 [A/G] rs10912551 1 173119967 [T/G] rs7553711 1 173131908 [T/C] rs16845543 1 173153468 [A/G] NM_003326 TNFSF4 EXON Silent exm124218 1 173155860 [T/C] NM_003326 TNFSF4 EXON Missense_S116N exm124219 1 173155960 [T/C] NM_003326 TNFSF4 EXON Missense_D83N variant.8507 1 173156006 [T/C] NM_003326 TNFSF4 Silent rs10912561 1 173164565 [T/C] NM_003326 TNFSF4 Silent exm-rs2205960 1 173191475 [T/G] rs844644 1 173209495 [A/C] NR_037845 LOC100506023 Silent rs844648 1 173223863 [A/G] NR_037845 LOC100506023 Silent rs704840 1 173226195 [T/G] NR_037845 LOC100506023 Silent rs10489265 1 173236065 [A/C] NR_037845 LOC100506023 Silent rs1342032 1 173270649 [A/C] NR_037845 LOC100506023 Silent rs6685520 1 173278169 [A/G] NR_037845 LOC100506023 Silent rs10912583 1 173280999 [T/C] NR_037845 LOC100506023 Silent rs7546568 1 173297704 [A/C] NR_037845 LOC100506023 Silent exm-rs1342038 1 173301516 [A/G] NR_037845 LOC100506023 Silent exm-rs10798269 1 173309713 [A/G] NR_037845 LOC100506023 Silent rs10798269 1 173309713 [A/G] NR_037845 LOC100506023 Silent rs17346550 1 173315625 [T/C] NR_037845 LOC100506023 Silent rs6671598 1 173325913 [T/C] NR_037845 LOC100506023 Silent rs4916334 1 173333829 [T/G] NR_037845 LOC100506023 Silent rs16845817 1 173362070 [A/G] NR_037845 LOC100506023 Silent rs16845819 1 173362284 [A/G] NR_037845 LOC100506023 Silent rs1418191 1 173362457 [T/C] NR_037845 LOC100506023 Silent rs4916219 1 173373183 [T/C] NR_037845 LOC100506023 Silent rs7526628 1 173376879 [T/C] NR_037845 LOC100506023 Silent rs10753077 1 173381535 [A/G] NR_037845 LOC100506023 Silent rs10798280 1 173381640 [A/G] NR_037845 LOC100506023 Silent rs6702339 1 173391208 [T/C] NR_037845 LOC100506023 Silent exm2264920 1 173408212 [A/G] NR_037845 LOC100506023 Silent rs10737302 1 173410936 [A/G] NR_037845 LOC100506023 Silent rs6656413 1 173414416 [A/G] NR_037845 LOC100506023 Silent rs10798282 1 173437024 [T/C] NR_037845 LOC100506023 Silent variant.8508 1 173450614 [A/G] NM_004905 PRDX6 EXON Nonsense_W82X indel.8511 1 173455457 [I/D] NM_004905 PRDX6 EXON exm124258 1 173455511 [T/A] NM_004905 PRDX6 EXON Nonsense_K173X exm124263 1 173456935 [T/C] NM_004905 PRDX6 EXON Missense_P203L rs7314 1 173457599 [A/G] NM_004905 PRDX6 EXON Silent rs7521536 1 173465265 [T/C] exm124274 1 173472465 [A/G] NM_178527 SLC9C2 EXON Missense_A1104V rs1359460 1 173474127 [T/C] NM_178527 SLC9C2 Silent rs10912627 1 173474482 [A/G] NM_178527 SLC9C2 Silent exm124279 1 173475997 [C/G] NM_178527 SLC9C2 EXON Missense_Q1075E indel.8514 1 173476041 [D/I] NM_178527 SLC9C2 EXON exm124289 1 173478829 [T/C] NM_178527 SLC9C2 EXON Missense_I973V rs16846052 1 173478877 [T/G] NM_178527 SLC9C2 Silent 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 variant.8517 1 173499058 [A/C] NM_178527 SLC9C2 EXON Nonsense_E767X exm2250265 1 173502831 [A/G] NM_178527 SLC9C2 EXON Synonymous_L694L rs1886639 1 173504068 [T/C] NM_178527 SLC9C2 Silent rs1925340 1 173509365 [A/G] NM_178527 SLC9C2 Silent exm124335 1 173516871 [C/G] NM_178527 SLC9C2 EXON Missense_A505G rs10494490 1 173516903 [A/G] NM_178527 SLC9C2 EXON Synonymous_N494N var_1_173517527 1 173517527 [A/C] NM_178527 SLC9C2 Silent rs6425247 1 173517540 [A/G] NM_178527 SLC9C2 EXON Synonymous_I483I 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 rs12027862 1 173532805 [A/G] NM_178527 SLC9C2 Silent rs12040255 1 173538503 [T/C] NM_178527 SLC9C2 Silent rs10912650 1 173539032 [A/G] NM_178527 SLC9C2 Silent 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 rs12081220 1 173567376 [A/G] NM_178527 SLC9C2 Silent exm124387 1 173570818 [A/G] NM_178527 SLC9C2 EXON Missense_T33M variant.8523 1 173570858 [A/G] NM_178527 SLC9C2 EXON Nonsense_Q20X 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 indel.8524 1 173596256 [I/D] NM_198493 ANKRD45 EXON exm124398 1 173596257 [A/T] NM_198493 ANKRD45 EXON Missense_L180I rs12059068 1 173596273 [A/G] NM_198493 ANKRD45 EXON Synonymous_Y174Y rs7539322 1 173615965 [T/C] NM_198493 ANKRD45 Silent exm124406 1 173616057 [A/G] NM_198493 ANKRD45 EXON Missense_R142W exm124407 1 173616096 [G/C] NM_198493 ANKRD45 EXON Missense_L129V rs12075071 1 173616525 [T/C] NM_198493 ANKRD45 Silent 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 rs6681766 1 173672799 [A/G] rs10798295 1 173683954 [T/C] rs6413827 1 173686353 [A/G] NM_014458 KLHL20 Silent exm124426 1 173702857 [T/C] NM_014458 KLHL20 EXON Missense_T10I variant.8526 1 173702865 [T/C] NM_014458 KLHL20 EXON Nonsense_R13X variant.8527 1 173702982 [T/C] NM_014458 KLHL20 EXON Nonsense_R52X variant.8528 1 173703024 [T/G] NM_014458 KLHL20 EXON Nonsense_E66X variant.8530 1 173703108 [T/C] NM_014458 KLHL20 EXON Nonsense_R94X variant.8532 1 173720987 [T/G] NM_014458 KLHL20 EXON Nonsense_E228X exm124446 1 173721013 [T/G] NM_014458 KLHL20 EXON Missense_M236I indel.8533 1 173722386 [I/D] NM_014458 KLHL20 EXON exm2250269 1 173722399 [T/C] NM_014458 KLHL20 EXON Synonymous_V268V variant.8534 1 173725108 [T/C] NM_014458 KLHL20 EXON Nonsense_R300X rs1885679 1 173727133 [A/G] NM_014458 KLHL20 Silent variant.8535 1 173735308 [A/G] NM_014458 KLHL20 EXON Nonsense_W392X rs10489893 1 173756803 [A/G] exm124477 1 173772147 [T/C] NM_001127181,NM_033319,NM_001171182 CENPL,CENPL,CENPL EXON Missense_R352H,Missense_R306H,Missense_R306H exm124480 1 173772210 [T/C] NM_001127181,NM_033319,NM_001171182 CENPL,CENPL,CENPL EXON Missense_D331G,Missense_D285G,Missense_D285G exm124485 1 173772298 [T/C] NM_001127181,NM_033319,NM_001171182 CENPL,CENPL,CENPL EXON Missense_I302V,Missense_I256V,Missense_I256V exm124486 1 173772302 [A/G] NM_001127181,NM_033319,NM_001171182 CENPL,CENPL,CENPL EXON Synonymous_F300F,Synonymous_F254F,Synonymous_F254F exm124487 1 173772330 [C/G] NM_001127181,NM_033319,NM_001171182 CENPL,CENPL,CENPL EXON Missense_C291S,Missense_C245S,Missense_C245S exm124494 1 173772580 [A/C] NM_001127181,NM_033319,NM_001171182 CENPL,CENPL,CENPL EXON Missense_F208V,Missense_F162V,Missense_F162V exm124505 1 173776476 [A/T] NM_001127181,NM_033319,NM_001171182 CENPL,CENPL,CENPL EXON Missense_I117F,Missense_I117F,Missense_I117F exm124507 1 173776565 [T/C] NM_001127181,NM_033319,NM_001171182 CENPL,CENPL,CENPL EXON Missense_N87S,Missense_N87S,Missense_N87S exm124510 1 173776652 [T/C] NM_001127181,NM_033319,NM_001171182 CENPL,CENPL,CENPL EXON Missense_D58G,Missense_D58G,Missense_D58G exm124512 1 173780338 [T/C] NM_001127181,NM_033319,NM_001171182 CENPL,CENPL,CENPL EXON Missense_V34I,Missense_V34I,Missense_V34I exm124514 1 173780362 [A/G] NM_001127181,NM_033319,NM_001171182 CENPL,CENPL,CENPL EXON Missense_P26S,Missense_P26S,Missense_P26S exm124520 1 173780421 [A/G] NM_001127181,NM_033319,NM_001171182 CENPL,CENPL,CENPL EXON Missense_A6V,Missense_A6V,Missense_A6V rs12096832 1 173789507 [A/G] NM_001127181,NM_033319,NM_001171182 CENPL,CENPL,CENPL Silent,Silent,Silent exm124527 1 173794458 [A/G] NM_018122 DARS2 EXON Missense_R31G exm124533 1 173795885 [A/G] NM_018122 DARS2 EXON Missense_G63D rs2068871 1 173796169 [A/G] NM_018122 DARS2 Silent exm124536 1 173797503 [A/G] NM_018122 DARS2 EXON Missense_D87G variant.8538 1 173797542 [T/C] NM_018122 DARS2 Silent exm124541 1 173799877 [A/G] NM_018122 DARS2 EXON Missense_R125H variant.8539 1 173799901 [T/C] NM_018122 DARS2 Silent newrs121918208 1 173800731 [T/G] NM_018122 DARS2 EXON Missense_C152F exm124545 1 173800731 [T/G] NM_018122 DARS2 EXON Missense_C152F exm124550 1 173800770 [T/C] NM_018122 DARS2 Silent newrs121918210 1 173802557 [A/G] NM_018122 DARS2 EXON Missense_R179H exm1736460 1 173802601 [A/G] NM_018122 DARS2 EXON Missense_V194I exm124557 1 173802608 [A/G] NM_018122 DARS2 EXON Missense_K196R variant.8543 1 173803658 [T/G] NM_018122 DARS2 Silent variant.8544 1 173803662 [A/G] NM_018122 DARS2 Silent newrs113699624 1 173806189 [A/G] NM_018122 DARS2 Silent newrs149035108 1 173807353 [T/C] NM_018122 DARS2 EXON Nonsense_R266X exm124567 1 173808677 [A/G] NM_018122 DARS2 EXON Missense_G338E exm124568 1 173810011 [A/G] NM_018122 DARS2 EXON Missense_D343G variant.8552 1 173823043 [T/G] NM_018122 DARS2 EXON Missense_K558N variant.8553 1 173826791 [A/G] NM_018122 DARS2 EXON Missense_Y629C variant.8554 1 173826799 [T/C] NM_018122 DARS2 EXON Nonsense_R632X exm124612 1 173839374 [G/C] NM_032522,NM_001122770 ZBTB37,ZBTB37 EXON Missense_G4A,Missense_G4A exm124626 1 173839830 [C/G] NM_032522,NM_001122770 ZBTB37,ZBTB37 EXON Missense_T156R,Missense_T156R exm124629 1 173839884 [A/G] NM_032522,NM_001122770 ZBTB37,ZBTB37 EXON Missense_R174Q,Missense_R174Q exm124645 1 173840253 [A/G] NM_032522,NM_001122770 ZBTB37,ZBTB37 EXON Missense_K297R,Missense_K297R exm124649 1 173842630 [A/C] NM_032522,NM_001122770 ZBTB37,ZBTB37 EXON Missense_P317T,Missense_P317T exm2250272 1 173842668 [T/C] NM_032522,NM_001122770 ZBTB37,ZBTB37 EXON Synonymous_P329P,Synonymous_P329P exm124651 1 173842735 [A/G] NM_032522,NM_001122770 ZBTB37,ZBTB37 EXON Missense_V352M,Silent rs4652328 1 173863499 [T/C] newrs121909568 1 173873166 [A/G] NM_000488 SERPINC1 EXON Missense_A419V newrs121909559 1 173873176 [A/C] NM_000488 SERPINC1 EXON Missense_A416S exm124665 1 173873176 [A/C] NM_000488 SERPINC1 EXON Missense_A416S variant.8561 1 173876588 [T/C] NM_000488 SERPINC1 EXON Synonymous_E406E 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 newrs121909553 1 173883864 [A/G] NM_000488 SERPINC1 EXON Missense_R79C exm124712 1 173883881 [A/G] NM_000488 SERPINC1 EXON Missense_P73L exm124717 1 173884010 [A/T] NM_000488 SERPINC1 EXON Missense_V30E rs9425775 1 173893018 [A/G] rs767053 1 173903737 [A/G] NM_172071 RC3H1 EXON Silent 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 rs7413166 1 173929735 [A/G] NM_172071 RC3H1 Silent 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 rs6677446 1 173960082 [T/C] NM_172071 RC3H1 Silent exm2265058 1 173987798 [A/G] kgp8044790 1 173989219 [T/C] rs16846667 1 174040594 [T/C] rs6695327 1 174061844 [A/C] exm2264921 1 174104743 [A/G] rs6681627 1 174126742 [A/C] exm124832 1 174188338 [G/C] NM_014857 RABGAP1L EXON Missense_D15H exm124837 1 174190170 [A/G] NM_014857 RABGAP1L EXON Missense_E67K rs10489254 1 174197801 [T/C] NM_014857 RABGAP1L Silent newrs144178040 1 174200324 [T/G] NM_014857 RABGAP1L EXON Nonsense_E125X rs7535987 1 174209978 [T/C] NM_014857 RABGAP1L Silent variant.8569 1 174210631 [T/C] NM_014857 RABGAP1L EXON Nonsense_Q185X exm2250277 1 174210684 [T/C] NM_014857 RABGAP1L EXON Synonymous_C202C exm124855 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 rs12072050 1 174238786 [T/C] NM_014857 RABGAP1L Silent exm124876 1 174245032 [A/G] NM_014857 RABGAP1L EXON Missense_N372S rs6670617 1 174246712 [A/C] NM_014857 RABGAP1L Silent rs6697959 1 174254588 [T/C] NM_014857 RABGAP1L Silent exm1736806 1 174274224 [A/G] NM_014857 RABGAP1L EXON Missense_G475E kgp2139778 1 174274349 [T/G] NM_014857 RABGAP1L Silent kgp9267458 1 174275765 [T/C] NM_014857 RABGAP1L Silent rs6684688 1 174326318 [T/C] NM_014857 RABGAP1L Silent rs10912773 1 174343705 [A/G] NM_014857 RABGAP1L Silent exm124896 1 174363257 [A/G] NM_014857 RABGAP1L EXON Missense_D562N rs17373189 1 174369767 [A/G] NM_014857 RABGAP1L Silent rs12565430 1 174400537 [A/G] NM_014857 RABGAP1L Silent exm124911 1 174417616 [T/G] NM_014857,NM_005684 RABGAP1L,GPR52 EXON Silent,Missense_V123F indel.8572 1 174417682 [I/D] NM_014857,NM_005684 RABGAP1L,GPR52 EXON 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 rs10489259 1 174425627 [A/G] NM_014857 RABGAP1L Silent rs12059051 1 174438115 [A/G] NM_014857 RABGAP1L Silent rs7547843 1 174507529 [A/G] NM_014857 RABGAP1L Silent rs17838246 1 174532746 [A/G] NM_014857 RABGAP1L Silent rs6691118 1 174546936 [A/G] NM_014857 RABGAP1L Silent rs6664864 1 174592050 [A/G] NM_014857 RABGAP1L Silent rs16847271 1 174605170 [T/G] NM_014857 RABGAP1L Silent rs3123641 1 174611708 [A/G] NM_014857 RABGAP1L Silent rs392368 1 174612899 [T/C] NM_014857 RABGAP1L Silent kgp3671868 1 174613295 [T/C] NM_014857 RABGAP1L Silent rs332790 1 174709679 [T/C] NM_014857 RABGAP1L Silent rs1793319 1 174764608 [A/G] NM_014857 RABGAP1L Silent exm124955 1 174781083 [C/G] NM_014857,NM_001243765 RABGAP1L,RABGAP1L EXON Missense_Q775H,Missense_Q94H rs1793316 1 174794144 [A/G] NM_014857,NM_001243765 RABGAP1L,RABGAP1L Silent,Silent rs3018410 1 174818547 [A/G] NM_014857,NM_001243765 RABGAP1L,RABGAP1L Silent,Silent rs2987878 1 174829296 [A/G] NM_014857,NM_001243765 RABGAP1L,RABGAP1L Silent,Silent exm124960 1 174846693 [A/G] NM_014857,NM_001243765,NM_001243763,NM_001035230 RABGAP1L,RABGAP1L,RABGAP1L,RABGAP1L EXON Silent,Silent,Missense_D21N,Missense_D21N variant.8573 1 174846748 [A/G] NM_014857,NM_001243765,NM_001243763,NM_001035230 RABGAP1L,RABGAP1L,RABGAP1L,RABGAP1L Silent,Silent,Silent,Silent rs6700434 1 174868328 [T/C] NM_014857,NM_001243765,NM_001243763,NM_001035230 RABGAP1L,RABGAP1L,RABGAP1L,RABGAP1L Silent,Silent,Silent,Silent rs6684515 1 174903882 [A/C] NM_014857,NM_001243765,NM_001243763,NM_001035230 RABGAP1L,RABGAP1L,RABGAP1L,RABGAP1L Silent,Silent,Silent,Silent 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 rs7537508 1 174970505 [T/G] NM_001007214,NM_014412 CACYBP,CACYBP Silent,Silent rs6425310 1 174971682 [A/G] NM_001007214,NM_014412 CACYBP,CACYBP 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 rs10912866 1 174979726 [A/C] NM_001007214,NM_014412 CACYBP,CACYBP EXON Silent,Silent rs16847706 1 174983207 [T/G] NM_022100,NR_037606 MRPS14,MRPS14 EXON Silent,Silent exm2250280 1 174983910 [T/C] NM_022100,NR_037606 MRPS14,MRPS14 EXON Synonymous_T94T,Silent var_1_174987637 1 174987637 [A/G] NM_022100,NR_037606 MRPS14,MRPS14 EXON Nonsense_R41X,Silent exm125018 1 174987637 [A/G] NM_022100,NR_037606 MRPS14,MRPS14 EXON Nonsense_R41X,Silent rs997985 1 175010010 [A/G] rs10489329 1 175022406 [T/G] rs6672099 1 175029932 [T/G] rs10798331 1 175034437 [A/G] rs6703740 1 175041977 [T/G] NM_022093 TNN Silent 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 rs2269647 1 175047382 [T/C] NM_022093 TNN Silent 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 variant.8579 1 175053056 [T/C] NM_022093 TNN EXON Nonsense_R407X exm125118 1 175054607 [T/C] NM_022093 TNN EXON Missense_P434L exm125119 1 175054626 [T/G] NM_022093 TNN EXON Missense_R440S rs6694071 1 175057782 [A/G] NM_022093 TNN Silent exm1737146 1 175063127 [A/C] NM_022093 TNN EXON Missense_E442D indel.8581 1 175063189 [D/I] NM_022093 TNN EXON 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 rs12083818 1 175083952 [T/C] NM_022093 TNN Silent exm125172 1 175086153 [A/C] NM_022093 TNN EXON Missense_A733D rs6690229 1 175086461 [A/G] NM_022093 TNN Silent rs7546260 1 175086965 [T/G] NM_022093 TNN Silent rs6656284 1 175087677 [A/G] NM_022093 TNN Silent exm125183 1 175087729 [T/C] NM_022093 TNN EXON Missense_W807R exm125187 1 175087846 [A/G] NM_022093 TNN EXON Missense_E846K rs6703913 1 175090414 [A/G] NM_022093 TNN Silent rs7521981 1 175091151 [A/G] NM_022093 TNN Silent exm125203 1 175092637 [T/C] NM_022093 TNN EXON Missense_R918C exm125217 1 175092794 [A/G] NM_022093 TNN EXON Missense_Q970R rs2072041 1 175092840 [T/C] NM_022093 TNN Silent 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 rs12146041 1 175102161 [A/G] NM_022093 TNN Silent 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 rs12563833 1 175109517 [A/G] NM_022093 TNN Silent rs1018829 1 175109722 [A/G] NM_022093 TNN Silent rs10489328 1 175113118 [T/G] NM_022093 TNN Silent 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] rs6425323 1 175125036 [T/C] rs2269650 1 175129691 [T/G] NM_001162894,NM_014656,NM_001162895,NM_001162893 KIAA0040,KIAA0040,KIAA0040,KIAA0040 EXON Silent,Silent,Silent,Silent exm125303 1 175129888 [A/G] NM_001162894,NM_014656,NM_001162895,NM_001162893 KIAA0040,KIAA0040,KIAA0040,KIAA0040 EXON Missense_L88F,Missense_L88F,Missense_L88F,Missense_L88F exm125308 1 175130119 [T/C] NM_001162894,NM_014656,NM_001162895,NM_001162893 KIAA0040,KIAA0040,KIAA0040,KIAA0040 EXON Missense_I11V,Missense_I11V,Missense_I11V,Missense_I11V rs1057239 1 175130204 [A/G] NM_001162894,NM_014656,NM_001162895,NM_001162893 KIAA0040,KIAA0040,KIAA0040,KIAA0040 EXON Silent,Silent,Silent,Silent rs2861158 1 175135829 [A/G] NM_001162894,NM_014656,NM_001162895,NM_001162893 KIAA0040,KIAA0040,KIAA0040,KIAA0040 EXON Silent,Silent,Silent,Silent rs16847872 1 175138289 [A/G] NM_001162894,NM_014656,NM_001162895,NM_001162893 KIAA0040,KIAA0040,KIAA0040,KIAA0040 Silent,Silent,Silent,Silent rs3766696 1 175142462 [A/G] NM_001162894,NM_014656,NM_001162895,NM_001162893 KIAA0040,KIAA0040,KIAA0040,KIAA0040 Silent,Silent,Silent,Silent rs1008459 1 175151183 [T/C] NM_001162894,NM_014656,NM_001162895,NM_001162893 KIAA0040,KIAA0040,KIAA0040,KIAA0040 Silent,Silent,Silent,Silent rs3753555 1 175162805 [T/G] rs1012876 1 175173206 [A/C] rs6659761 1 175183939 [T/C] rs10912915 1 175187551 [A/G] rs10798348 1 175194390 [T/C] rs909467 1 175198786 [A/G] rs2012862 1 175201727 [T/G] rs6663906 1 175233237 [T/G] rs12058559 1 175241835 [A/C] rs1546844 1 175257650 [A/G] rs12732088 1 175283119 [A/G] rs10798380 1 175286396 [T/C] rs11802001 1 175290855 [A/C] 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 rs6688599 1 175298552 [T/C] NM_003285 TNR Silent rs10489321 1 175298757 [T/C] NM_003285 TNR Silent exm125333 1 175299311 [T/C] NM_003285 TNR EXON Missense_R1231Q indel.8586 1 175304915 [D/I] NM_003285 TNR EXON exm2250285 1 175304941 [T/C] NM_003285 TNR EXON Synonymous_V1179V exm125348 1 175306758 [A/G] NM_003285 TNR EXON Missense_T1147I rs2027866 1 175312472 [A/G] NM_003285 TNR Silent rs2040425 1 175321003 [A/G] NM_003285 TNR Silent exm125351 1 175323562 [A/G] NM_003285 TNR EXON Missense_T1116M newrs146606650 1 175325455 [A/G] NM_003285 TNR EXON Missense_L1040F exm125368 1 175325553 [T/C] NM_003285 TNR EXON Missense_R1007Q exm125371 1 175325586 [A/G] NM_003285 TNR EXON Missense_T996I rs10798390 1 175326303 [A/G] NM_003285 TNR Silent 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 rs2236883 1 175338419 [T/C] NM_003285 TNR Silent rs2236881 1 175339021 [T/C] NM_003285 TNR Silent rs1351963 1 175343297 [T/C] NM_003285 TNR Silent 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 rs859433 1 175352218 [A/G] NM_003285 TNR Silent 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 rs859438 1 175355618 [T/C] NM_003285 TNR Silent rs10912968 1 175362638 [A/G] NM_003285 TNR Silent rs12023965 1 175363204 [T/C] NM_003285 TNR Silent rs6691883 1 175364423 [T/C] NM_003285 TNR Silent 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 rs859401 1 175374390 [T/G] NM_003285 TNR Silent 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 rs12119177 1 175378694 [A/C] NM_003285 TNR Silent exm2250287 1 175387018 [A/G] NM_003285 TNR Silent rs6655978 1 175403509 [T/C] NM_003285 TNR Silent rs860907 1 175411912 [T/C] NM_003285 TNR Silent rs12565878 1 175411978 [T/C] NM_003285 TNR Silent rs12735331 1 175413886 [A/G] NM_003285 TNR Silent rs4652090 1 175417063 [A/G] NM_003285 TNR Silent rs859455 1 175423905 [T/C] NM_003285 TNR Silent rs863519 1 175425083 [T/C] NM_003285 TNR Silent rs859374 1 175431064 [A/G] NM_003285 TNR Silent rs10912985 1 175436833 [A/G] NM_003285 TNR Silent rs859413 1 175444933 [A/G] NM_003285 TNR Silent rs2861311 1 175469011 [T/G] NM_003285 TNR Silent rs10912994 1 175488409 [T/G] NM_003285 TNR Silent rs864163 1 175492359 [T/C] NM_003285 TNR Silent rs859363 1 175495225 [A/C] NM_003285 TNR Silent rs7515041 1 175505966 [A/G] NM_003285 TNR Silent rs1003964 1 175521376 [A/G] NM_003285 TNR Silent rs10489312 1 175526526 [T/C] NM_003285 TNR Silent rs6676780 1 175526544 [A/G] NM_003285 TNR Silent rs16848639 1 175532858 [T/C] NM_003285 TNR Silent rs7354864 1 175542257 [A/G] NM_003285 TNR Silent rs10913019 1 175552365 [A/G] NM_003285 TNR Silent rs6688098 1 175561555 [A/G] NM_003285 TNR Silent rs7541077 1 175567218 [A/G] NM_003285 TNR Silent rs10913029 1 175578177 [T/G] NM_003285 TNR Silent rs7515728 1 175581146 [T/C] NM_003285 TNR Silent rs2179158 1 175585503 [T/C] NM_003285 TNR Silent rs10798409 1 175590376 [A/G] NM_003285 TNR Silent rs1323120 1 175600179 [T/C] NM_003285 TNR Silent rs10913043 1 175612924 [A/G] NM_003285 TNR Silent rs4652099 1 175629207 [A/C] NM_003285 TNR Silent rs10913052 1 175630097 [T/C] NM_003285 TNR Silent rs4652101 1 175636696 [T/G] NM_003285 TNR Silent rs7544659 1 175647041 [A/G] NM_003285 TNR Silent rs4233164 1 175651786 [T/C] NM_003285 TNR Silent rs6676099 1 175661819 [A/G] NM_003285 TNR Silent rs1155910 1 175664892 [T/C] NM_003285 TNR Silent rs7539097 1 175669902 [A/G] NM_003285 TNR Silent rs12144778 1 175684583 [T/C] NM_003285 TNR Silent rs6675876 1 175700507 [T/C] NM_003285 TNR Silent rs4565663 1 175709171 [T/C] NM_003285 TNR Silent rs909741 1 175709327 [T/G] NM_003285 TNR Silent rs671000 1 175731846 [T/C] rs675031 1 175734121 [A/G] rs6659350 1 175735380 [T/C] rs1325914 1 175744041 [A/C] rs6425361 1 175756706 [T/C] rs16828536 1 175766820 [T/C] rs7537684 1 175769259 [T/C] rs7520699 1 175783896 [A/G] rs571898 1 175824794 [A/C] rs11810084 1 175827683 [A/G] rs732292 1 175832217 [A/G] rs16849285 1 175846158 [T/C] rs578140 1 175848088 [A/G] rs4652137 1 175848239 [T/C] rs532799 1 175852209 [A/G] rs12759426 1 175859765 [A/G] rs10753110 1 175869554 [A/C] rs10494494 1 175874139 [T/C] rs7525623 1 175885411 [A/G] rs2030558 1 175889627 [A/C] rs7516327 1 175891622 [T/C] rs6695241 1 175894857 [A/G] rs10798432 1 175952542 [A/G] NM_022457,NM_001001740 RFWD2,RFWD2 Silent,Silent rs6425374 1 176001496 [T/G] NM_022457,NM_001001740 RFWD2,RFWD2 Silent,Silent exm125559 1 176012946 [A/C] NM_022457,NM_001001740 RFWD2,RFWD2 EXON Missense_S477I,Missense_S453I rs12729524 1 176018764 [T/G] NM_022457,NM_001001740 RFWD2,RFWD2 Silent,Silent exm125567 1 176050414 [T/C] NM_022457,NM_001001740 RFWD2,RFWD2 EXON Missense_R384Q,Missense_R360Q variant.8591 1 176054907 [T/C] NM_022457,NM_001001740 RFWD2,RFWD2 Silent,Silent exm125570 1 176054921 [A/G] NM_022457,NM_001001740 RFWD2,RFWD2 EXON Missense_R378C,Missense_R354C rs2481640 1 176060829 [T/C] NM_022457,NM_001001740 RFWD2,RFWD2 Silent,Silent rs2502841 1 176088186 [A/C] NM_022457,NM_001001740 RFWD2,RFWD2 Silent,Silent rs7517503 1 176092668 [T/C] NM_022457,NM_001001740 RFWD2,RFWD2 Silent,Silent 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 rs2039232 1 176111527 [T/C] NM_022457,NM_001001740 RFWD2,RFWD2 Silent,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 rs3748618 1 176118219 [A/G] NM_022457,NM_001001740 RFWD2,RFWD2 Silent,Silent rs12239888 1 176122170 [T/C] NM_022457,NM_001001740 RFWD2,RFWD2 Silent,Silent 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] rs352314 1 176233932 [T/C] rs12144020 1 176273901 [T/C] rs2504473 1 176277052 [A/G] rs2455730 1 176295837 [A/G] rs2455729 1 176298497 [A/C] rs10913158 1 176311597 [A/G] rs4652171 1 176345256 [T/G] rs1503124 1 176354126 [A/G] rs2504494 1 176362201 [A/G] kgp1568295 1 176363059 [A/G] rs7552857 1 176429364 [A/G] exm2259865 1 176435410 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs6667264 1 176465969 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs7521130 1 176470980 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs11584882 1 176475180 [A/C] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs10489473 1 176487700 [A/C] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs992922 1 176508293 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent exm2268788 1 176521349 [T/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent exm125602 1 176525585 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_V43M,Missense_V43M exm125603 1 176525591 [T/A] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_L45M,Missense_L45M exm125608 1 176525784 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_P109L,Missense_P109L exm125609 1 176525828 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_E124K,Missense_E124K exm125614 1 176525970 [G/C] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_T171S,Missense_T171S exm125630 1 176526195 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_G246D,Missense_G246D exm125636 1 176526264 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_R269Q,Missense_R269Q rs240099 1 176547669 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs12094283 1 176548900 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs11587239 1 176551626 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent exm125646 1 176563683 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_T315A,Missense_T315A exm125651 1 176563779 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_V347M,Missense_V347M exm1737825 1 176564076 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_S446G,Missense_S446G exm125662 1 176564092 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_A451V,Missense_A451V exm125663 1 176564113 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_A458V,Missense_A458V exm2231899 1 176564156 [T/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_D472E,Missense_D472E exm125666 1 176564200 [A/T] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_E487V,Missense_E487V exm125667 1 176564215 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_S492L,Missense_S492L exm125671 1 176564323 [A/T] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_Q528L,Missense_Q528L exm1737828 1 176564490 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_V584M,Missense_V584M rs909941 1 176565307 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs10798463 1 176571578 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs10913227 1 176611275 [T/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs1015901 1 176630817 [A/C] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent rs12071948 1 176632533 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent exm125685 1 176640107 [T/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_A665S,Missense_A665S variant.8595 1 176640226 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Nonsense_W704X,Nonsense_W704X rs7540152 1 176656255 [A/G] NM_020318,NM_021936 PAPPA2,PAPPA2 Silent,Silent exm125693 1 176659378 [T/A] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_V748D,Missense_V748D exm125700 1 176659510 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_T792I,Missense_T792I exm125701 1 176659527 [T/C] NM_020318,NM_021936 PAPPA2,PAPPA2 EXON Missense_F798L,Missense_F798L exm2231902 1 176661361 [T/C] NM_020318 PAPPA2 EXON Missense_T844I variant.8597 1 176661454 [A/G] NM_020318 PAPPA2 EXON Missense_R875K exm125720 1 176664947 [T/C] NM_020318 PAPPA2 EXON Missense_R900W rs791031 1 176667810 [T/G] NM_020318 PAPPA2 Silent 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 rs7526821 1 176690586 [T/C] NM_020318 PAPPA2 Silent rs12117539 1 176703822 [T/G] NM_020318 PAPPA2 Silent rs10913245 1 176705147 [T/C] NM_020318 PAPPA2 Silent 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 rs2076336 1 176759336 [A/G] NM_020318 PAPPA2 Silent exm125827 1 176760483 [T/C] NM_020318 PAPPA2 EXON Missense_L1629F exm1737975 1 176762710 [A/C] NM_020318 PAPPA2 EXON Missense_P1679T variant.8599 1 176762805 [A/G] NM_020318 PAPPA2 EXON Synonymous_Q1710Q rs10913256 1 176769358 [T/C] NM_020318 PAPPA2 Silent exm-rs1325598 1 176792249 [A/G] NM_020318 PAPPA2 Silent rs1040457 1 176802119 [T/C] NM_020318 PAPPA2 Silent rs2038114 1 176816410 [T/C] rs6425398 1 176832613 [T/C] NM_004319 ASTN1 EXON 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 rs10913267 1 176842745 [T/G] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent rs2076339 1 176845386 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent 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 rs10913273 1 176862051 [A/G] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent 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 rs6670777 1 176891234 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent 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 rs7521505 1 176904590 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent 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 rs2067038 1 176918675 [T/G] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent 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 rs10798491 1 176939999 [T/G] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent rs7554930 1 176940878 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent rs227992 1 176945623 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent rs2142756 1 176952890 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent rs735607 1 176976782 [A/G] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent rs172917 1 176992553 [A/G] NM_004319,NM_207108 ASTN1,ASTN1 EXON Synonymous_C475C,Synonymous_C475C 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 variant.8607 1 176999937 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent 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 rs16850689 1 177015606 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent rs2861885 1 177021726 [A/C] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent 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 rs6678480 1 177054771 [A/C] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent rs227530 1 177058201 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent rs7519595 1 177074669 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent exm2268952 1 177091092 [T/C] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent rs227511 1 177093387 [A/C] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent rs10798499 1 177097442 [A/C] NM_004319,NM_207108 ASTN1,ASTN1 Silent,Silent rs12021769 1 177132067 [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 rs10913294 1 177142106 [T/C] NM_021165 FAM5B Silent rs12128612 1 177158631 [T/C] NM_021165 FAM5B Silent rs12031932 1 177162809 [T/C] NM_021165 FAM5B Silent rs4652232 1 177173363 [A/G] NM_021165 FAM5B Silent rs556287 1 177181347 [A/C] NM_021165 FAM5B Silent exm2264924 1 177193408 [A/G] NM_021165 FAM5B Silent rs932311 1 177193697 [T/G] NM_021165 FAM5B Silent rs3176441 1 177198998 [T/C] NM_021165 FAM5B EXON 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 rs1879563 1 177204902 [A/G] NM_021165 FAM5B Silent rs982875 1 177208980 [T/G] NM_021165 FAM5B Silent exm126075 1 177225056 [G/C] NM_021165 FAM5B EXON Missense_E91Q exm126087 1 177226503 [A/G] NM_021165 FAM5B EXON Missense_A218T 1KG_1_177242685 1 177242685 [I/D] NM_021165 FAM5B EXON 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 rs16851031 1 177258204 [T/C] rs11587000 1 177261108 [A/G] rs766021 1 177269474 [T/C] rs16851037 1 177271313 [A/G] rs12569209 1 177279412 [A/G] rs12401643 1 177286000 [T/G] rs1123317 1 177300379 [T/C] rs4453002 1 177300809 [T/C] rs10798510 1 177303628 [T/C] rs6664016 1 177320470 [A/G] rs9425805 1 177321917 [T/C] rs4652247 1 177328296 [A/G] rs2902103 1 177341802 [T/G] rs2142754 1 177381322 [T/C] rs9662701 1 177384036 [A/G] rs9943212 1 177387829 [T/C] rs7543021 1 177403769 [T/G] rs715359 1 177431168 [T/C] rs6425426 1 177436018 [A/G] rs10737324 1 177466529 [T/C] rs12047881 1 177480934 [T/C] rs841789 1 177493799 [T/C] rs1098777 1 177508044 [A/G] rs10737325 1 177512260 [T/C] rs2093203 1 177525531 [A/G] exm2268789 1 177539967 [T/G] rs1415339 1 177560435 [T/C] rs1890035 1 177566659 [A/C] rs1252068 1 177602068 [T/C] rs12140710 1 177613863 [A/G] rs4652252 1 177625201 [A/G] rs1252066 1 177626285 [T/G] rs12035381 1 177648733 [A/G] rs1923630 1 177649849 [T/C] rs2104212 1 177651210 [A/G] rs12139234 1 177669302 [A/G] rs2181263 1 177670577 [T/C] rs4509537 1 177671478 [T/C] rs7542551 1 177680031 [A/G] rs3131308 1 177700306 [A/G] rs2065140 1 177710595 [A/G] rs3131323 1 177719196 [T/C] rs3131325 1 177723089 [T/C] rs3131333 1 177742007 [A/G] rs2093519 1 177752701 [A/G] rs10913419 1 177755464 [A/G] rs7411090 1 177762940 [T/C] rs4072161 1 177769687 [T/G] rs10913425 1 177770655 [T/C] rs4442331 1 177772815 [A/G] rs10913431 1 177778970 [T/C] rs4081367 1 177790062 [T/C] rs7537762 1 177808463 [A/G] rs10798574 1 177809627 [T/G] rs34612022 1 177811499 [T/C] rs12737338 1 177811939 [T/C] rs3131310 1 177814914 [A/G] rs3131313 1 177821366 [T/C] exm-rs633715 1 177852580 [T/C] rs10798578 1 177856925 [T/C] rs527065 1 177868882 [T/G] rs10157480 1 177873333 [A/G] rs630372 1 177885762 [A/G] rs480603 1 177887214 [T/C] rs16852100 1 177888809 [T/C] exm-rs543874 1 177889480 [A/G] rs543874 1 177889480 [A/G] rs623479 1 177898799 [T/C] NM_033127 SEC16B EXON Silent 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 rs522367 1 177901713 [T/C] NM_033127 SEC16B Silent exm126194 1 177902368 [A/G] NM_033127 SEC16B EXON Missense_S935L exm126197 1 177902387 [A/C] NM_033127 SEC16B EXON Missense_A929S rs3813649 1 177902725 [T/C] NM_033127 SEC16B EXON Missense_S873N exm126204 1 177902725 [T/C] NM_033127 SEC16B EXON Missense_S873N exm126207 1 177902753 [G/C] NM_033127 SEC16B EXON Missense_P864A rs10489882 1 177904495 [T/C] NM_033127 SEC16B Silent 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 variant.8620 1 177927265 [A/G] NM_033127 SEC16B Silent 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 rs7413442 1 177929940 [A/G] NM_033127 SEC16B EXON Synonymous_L308L exm126300 1 177930009 [T/C] NM_033127 SEC16B EXON Missense_G285R variant.8622 1 177930065 [T/G] NM_033127 SEC16B EXON Nonsense_S266X exm126303 1 177930832 [T/C] NM_033127 SEC16B EXON Missense_R227H exm126304 1 177930833 [A/G] NM_033127 SEC16B EXON Missense_R227C rs945641 1 177930894 [T/C] NM_033127 SEC16B Silent rs10798585 1 177931122 [A/G] NM_033127 SEC16B Silent exm126316 1 177934291 [A/G] NM_033127 SEC16B EXON Missense_R142W rs954503 1 177935443 [T/C] NM_033127 SEC16B Silent exm126324 1 177936870 [C/G] NM_033127 SEC16B EXON Missense_V83L var_1_177936881 1 177936881 [T/C] NM_033127 SEC16B EXON Nonsense_W79X 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 rs6682862 1 177938437 [A/G] NM_033127 SEC16B Silent rs10158522 1 177938712 [A/G] NM_033127 SEC16B Silent rs869286 1 177943812 [T/C] rs10913485 1 177965223 [T/C] rs12409286 1 177971147 [T/C] rs7340104 1 177971866 [T/C] exm2268790 1 177974569 [T/C] rs11588190 1 177976440 [T/C] NR_037167 LOC730102 EXON Silent rs4147158 1 177981232 [T/C] NR_037167 LOC730102 Silent rs16852358 1 177991255 [T/C] NR_037167 LOC730102 Silent rs946817 1 177997709 [A/G] NR_037167 LOC730102 Silent rs12410468 1 177999767 [T/C] NR_037167 LOC730102 Silent rs7540551 1 178018617 [A/G] rs11803039 1 178021124 [T/G] exm2259869 1 178028711 [T/C] rs17360740 1 178029944 [A/G] rs11583320 1 178042145 [T/C] rs2862303 1 178045388 [T/G] exm2275524 1 178063812 [C/G] NM_170692 RASAL2 EXON Missense_S62T rs728569 1 178095048 [A/G] NM_170692 RASAL2 Silent rs389563 1 178163144 [T/G] NM_170692 RASAL2 Silent rs178397 1 178181554 [T/C] NM_170692 RASAL2 Silent rs1412784 1 178206664 [A/G] NM_170692 RASAL2 Silent rs623225 1 178211322 [A/C] NM_170692 RASAL2 Silent rs7531227 1 178232469 [T/C] NM_170692 RASAL2 Silent 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 rs10913534 1 178296326 [T/C] NM_170692 RASAL2 Silent exm126355 1 178310738 [A/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Silent,Missense_T3N variant.8627 1 178310745 [T/C] NM_170692,NM_004841 RASAL2,RASAL2 Silent,Silent rs977034 1 178353532 [A/C] NM_170692,NM_004841 RASAL2,RASAL2 Silent,Silent exm2231929 1 178359244 [T/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_A156V,Missense_A8V rs10913550 1 178408795 [A/G] NM_170692,NM_004841 RASAL2,RASAL2 Silent,Silent 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 rs2017349 1 178419417 [A/G] NM_170692,NM_004841 RASAL2,RASAL2 Silent,Silent exm126396 1 178420787 [A/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Missense_D570A,Missense_D422A variant.8628 1 178426039 [T/G] NM_170692,NM_004841 RASAL2,RASAL2 Silent,Silent newrs150992459 1 178426846 [T/C] NM_170692,NM_004841 RASAL2,RASAL2 EXON Nonsense_Q807X,Nonsense_Q666X 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 rs16852854 1 178429171 [T/C] NM_170692,NM_004841 RASAL2,RASAL2 Silent,Silent 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 rs6693257 1 178450304 [A/C] rs4304537 1 178476554 [T/C] rs7514214 1 178480995 [A/G] var_1_178482347 1 178482348 [I/D] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON exm126476 1 178483205 [T/C] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_P36L,Missense_P28L,Missense_P28L,Missense_P28L exm126481 1 178483841 [A/G] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_D41N,Missense_D33N,Missense_D33N,Missense_D33N exm126482 1 178483868 [T/C] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_R50W,Missense_R42W,Missense_R42W,Missense_R42W exm126485 1 178484998 [A/G] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_E63G,Missense_E55G,Missense_E55G,Missense_E55G exm126493 1 178485772 [T/A] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_D88V,Missense_D80V,Missense_D80V,Missense_D80V exm126494 1 178485775 [T/G] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_F89C,Missense_F81C,Missense_F81C,Missense_F81C exm126502 1 178489520 [A/G] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_D105G,Missense_D97G,Missense_D97G,Missense_D97G exm126510 1 178489822 [A/C] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_A127E,Missense_A119E,Missense_A119E,Missense_A119E exm126514 1 178489858 [A/G] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_K139R,Missense_K131R,Missense_K131R,Missense_K131R exm126516 1 178489903 [G/C] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_A154G,Missense_A146G,Missense_A146G,Missense_A146G exm126518 1 178489935 [C/G] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_H165D,Missense_H157D,Missense_H157D,Missense_H157D indel.8636 1 178489969 [I/D] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON exm126521 1 178489978 [T/G] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_L179R,Missense_L171R,Missense_L171R,Missense_L171R rs3813636 1 178489978 [T/G] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_L179R,Missense_L171R,Missense_L171R,Missense_L171R variant.8637 1 178489998 [A/G] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_G186R,Missense_G178R,Missense_G178R,Missense_G178R exm126523 1 178490010 [A/G] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 Silent,Silent,Silent,Silent exm126530 1 178490387 [A/G] NM_001170722,NM_032126,NM_001170724,NM_001170723 TEX35,TEX35,TEX35,TEX35 EXON Missense_N200D,Missense_N192D,Missense_N192D,Missense_N192D exm126536 1 178491513 [A/G] NM_001170722,NM_032126,NM_001170724 TEX35,TEX35,TEX35 EXON Silent,Missense_T214A,Silent exm126538 1 178491570 [A/G] NM_001170722,NM_032126,NM_001170724 TEX35,TEX35,TEX35 EXON Silent,Missense_R233G,Silent rs4075631 1 178506594 [A/C] rs12568310 1 178514622 [T/C] NR_033186 C1orf220 EXON Silent variant.8642 1 178514984 [T/C] NR_033186 C1orf220 EXON Silent var_1_178515039 1 178515039 [A/G] NR_033186 C1orf220 Silent exm-rs4650994 1 178515312 [A/G] NR_033186 C1orf220 Silent rs4233175 1 178517591 [A/G] NR_033186 C1orf220 EXON Silent exm2265060 1 178518008 [A/G] NR_033186 C1orf220 EXON Silent rs4650999 1 178532188 [T/G] rs4651000 1 178532223 [A/G] rs2492279 1 178553480 [T/G] rs2493856 1 178563987 [T/G] rs6425489 1 178569136 [A/G] rs2811301 1 178594196 [T/C] rs10913584 1 178605501 [T/C] rs7552657 1 178617359 [A/C] rs2811314 1 178619183 [A/G] exm2250322 1 178620601 [T/G] rs2761476 1 178625499 [A/G] rs10798625 1 178633373 [A/G] rs4652309 1 178641945 [T/G] rs10913603 1 178645560 [T/C] rs2773091 1 178657616 [T/C] rs3922812 1 178659933 [A/G] rs6425496 1 178661629 [T/C] rs12045804 1 178668341 [A/G] rs16853281 1 178671750 [A/G] rs867556 1 178676113 [A/G] rs1018669 1 178687459 [A/C] rs4652319 1 178709966 [T/C] NM_152663 RALGPS2 Silent rs6425500 1 178718256 [T/C] NM_152663 RALGPS2 Silent rs6693283 1 178740427 [A/C] NM_152663 RALGPS2 Silent variant.8644 1 178753657 [A/G] NM_152663 RALGPS2 EXON Synonymous_A54A rs16853350 1 178765148 [T/G] NM_152663 RALGPS2 Silent exm1739095 1 178777231 [A/C] NM_152663 RALGPS2 EXON Missense_N89H rs3766642 1 178813531 [A/G] NM_152663 RALGPS2 Silent rs16853405 1 178817723 [T/G] NM_152663 RALGPS2 Silent exm126588 1 178820271 [A/G] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON Silent,Missense_I490T indel.8645 1 178821967 [I/D] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON exm126601 1 178822061 [A/G] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON Silent,Missense_Y349H variant.8647 1 178822089 [A/C] NM_152663,NM_004673 RALGPS2,ANGPTL1 Silent,Silent exm126609 1 178822919 [C/G] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON Silent,Missense_P276R rs10913634 1 178826282 [A/G] NM_152663,NM_004673 RALGPS2,ANGPTL1 Silent,Silent 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 indel.8649 1 178834223 [I/D] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON indel.8651 1 178834246 [D/I] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON exm1739119 1 178834248 [C/G] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON Silent,Missense_H222D newrs137965572 1 178834317 [A/G] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON Silent,Nonsense_Q199X indel.8653 1 178834706 [I/D] NM_152663,NM_004673 RALGPS2,ANGPTL1 EXON 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 rs3766637 1 178848223 [A/G] NM_152663 RALGPS2 Silent 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 variant.8656 1 178861408 [T/C] NM_152663 RALGPS2 EXON Nonsense_R431X variant.8659 1 178866891 [T/C] NM_152663 RALGPS2 EXON Synonymous_H508H rs871631 1 178903637 [A/G] rs6425507 1 178922451 [A/C] rs7522133 1 178927427 [T/C] rs10913665 1 178945967 [T/C] rs4652341 1 178956553 [T/C] rs1012066 1 178964604 [A/G] rs6697180 1 178967229 [T/C] rs997419 1 178967996 [A/G] rs12725164 1 178984086 [T/C] rs3813638 1 178994644 [T/C] rs6425513 1 179006462 [A/G] NM_014864 FAM20B Silent 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 rs3766636 1 179016398 [A/C] NM_014864 FAM20B Silent rs3766635 1 179016483 [T/C] NM_014864 FAM20B Silent variant.8661 1 179035994 [T/C] NM_014864 FAM20B EXON Missense_I333T exm126743 1 179041101 [A/T] NM_014864 FAM20B EXON Missense_K351M exm126746 1 179041137 [T/C] NM_014864 FAM20B EXON Missense_I363T rs16853619 1 179043939 [A/G] NM_014864 FAM20B EXON Silent 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 newrs149563285 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 rs16853647 1 179062497 [A/G] NM_022371 TOR3A Silent exm1739174 1 179063231 [A/T] NM_022371 TOR3A EXON Missense_N274K indel.8672 1 179063280 [D/I] NM_022371 TOR3A EXON var_1_179063352 1 179063353 [I/D] NM_022371 TOR3A variant.8674 1 179063357 [A/G] NM_022371 TOR3A Silent 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 indel.8675 1 179064233 [D/I] NM_022371 TOR3A EXON indel.8676 1 179064250 [I/D] NM_022371 TOR3A EXON exm126839 1 179064279 [A/C] NM_022371 TOR3A EXON Missense_P374T rs1128952 1 179065125 [T/C] NM_022371 TOR3A EXON Silent rs3829794 1 179072728 [T/C] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent exm126857 1 179077109 [T/C] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_S1077N,Missense_S974N,Missense_S980N,Missense_S995N,Missense_S1083N,Missense_S959N,Missense_S1098N exm1739182 1 179077223 [T/C] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_N1039S,Missense_N936S,Missense_N942S,Missense_N957S,Missense_N1045S,Missense_N921S,Missense_N1060S exm2231943 1 179077337 [T/C] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_G1001E,Missense_G898E,Missense_G904E,Missense_G919E,Missense_G1007E,Missense_G883E,Missense_G1022E exm126869 1 179077415 [G/C] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_P975R,Missense_P872R,Missense_P878R,Missense_P893R,Missense_P981R,Missense_P857R,Missense_P996R exm126875 1 179077566 [T/C] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_V925M,Missense_V822M,Missense_V828M,Missense_V843M,Missense_V931M,Missense_V807M,Missense_V946M exm126876 1 179077613 [T/C] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_K909R,Missense_K806R,Missense_K812R,Missense_K827R,Missense_K915R,Missense_K791R,Missense_K930R exm126880 1 179077689 [T/G] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_P884T,Missense_P781T,Missense_P787T,Missense_P802T,Missense_P890T,Missense_P766T,Missense_P905T exm126895 1 179078052 [T/A] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_T763S,Silent,Silent,Silent,Missense_T769S,Silent,Missense_T784S exm126908 1 179078344 [A/C] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Synonymous_T665T,Synonymous_T665T,Synonymous_T671T,Synonymous_T686T,Synonymous_T671T,Synonymous_T650T,Synonymous_T686T variant.8677 1 179078385 [A/G] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Nonsense_R652X,Nonsense_R652X,Nonsense_R658X,Nonsense_R673X,Nonsense_R658X,Nonsense_R637X,Nonsense_R673X exm126913 1 179078409 [T/G] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_P644T,Missense_P644T,Missense_P650T,Missense_P665T,Missense_P650T,Missense_P629T,Missense_P665T exm126916 1 179079416 [T/C] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent exm126917 1 179079420 [A/G] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_P587S,Missense_P587S,Missense_P593S,Missense_P608S,Missense_P593S,Missense_P572S,Missense_P608S variant.8679 1 179087825 [A/G] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Nonsense_R353X,Nonsense_R353X,Nonsense_R359X,Nonsense_R374X,Nonsense_R359X,Nonsense_R338X,Nonsense_R374X,Nonsense_R353X exm126946 1 179087875 [A/C] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_F336C,Missense_F336C,Missense_F342C,Missense_F357C,Missense_F342C,Missense_F321C,Missense_F357C,Missense_F336C rs9728480 1 179089491 [A/C] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent indel.8681 1 179095757 [D/I] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON variant.8682 1 179100441 [T/C] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm2250324 1 179100501 [A/G] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Synonymous_F91F,Synonymous_F91F,Synonymous_F97F,Synonymous_F112F,Synonymous_F97F,Synonymous_F76F,Synonymous_F112F,Synonymous_F91F exm126967 1 179100545 [T/C] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_K77E,Missense_K77E,Missense_K83E,Missense_K98E,Missense_K83E,Missense_K62E,Missense_K98E,Missense_K77E exm126969 1 179100604 [T/C] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Missense_R57H,Missense_R57H,Missense_R63H,Missense_R78H,Missense_R63H,Missense_R42H,Missense_R78H,Missense_R57H exm126979 1 179112145 [G/C] NM_001168236,NM_001168238,NM_001136000,NM_001168237,NM_005158,NM_001168239,NM_007314,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2,ABL2 EXON Silent,Silent,Missense_S12T,Silent,Missense_S12T,Missense_S12T,Silent,Silent rs6668200 1 179121280 [A/G] NM_001168236,NM_001168238,NM_001168237,NM_007314,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2 Silent,Silent,Silent,Silent,Silent rs6672395 1 179130359 [T/C] NM_001168236,NM_001168238,NM_001168237,NM_007314,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2 Silent,Silent,Silent,Silent,Silent rs2636293 1 179153697 [A/G] NM_001168236,NM_001168238,NM_001168237,NM_007314,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2 Silent,Silent,Silent,Silent,Silent exm2263840 1 179158614 [A/C] NM_001168236,NM_001168238,NM_001168237,NM_007314,NM_001136001 ABL2,ABL2,ABL2,ABL2,ABL2 Silent,Silent,Silent,Silent,Silent rs2636266 1 179199652 [A/G] rs451088 1 179222840 [A/C] rs2783387 1 179236814 [A/G] rs2493117 1 179255957 [T/C] rs2265932 1 179267783 [T/G] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent exm126990 1 179271826 [A/G] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Silent,Silent,Missense_G3S variant.8683 1 179271913 [T/G] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Silent,Silent,Nonsense_E32X rs10913713 1 179275259 [A/G] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent rs12022539 1 179275579 [T/C] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent exm1739249 1 179292574 [T/C] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Silent,Silent,Silent,Nonsense_R41X rs7531307 1 179302003 [A/G] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent newrs148646476 1 179307032 [T/G] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent variant.8685 1 179308681 [A/G] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent exm127016 1 179310275 [C/G] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_Q139E,Missense_Q146E,Silent,Missense_Q204E exm127019 1 179310332 [T/C] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_H158Y,Missense_H165Y,Silent,Missense_H223Y exm127020 1 179310348 [T/C] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_M163T,Missense_M170T,Silent,Missense_M228T exm127021 1 179310383 [A/G] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_T175A,Missense_T182A,Silent,Missense_T240A exm127030 1 179312009 [T/C] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_I226T,Missense_I233T,Silent,Missense_I291T rs4651024 1 179312102 [T/C] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent rs10913728 1 179312235 [A/G] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent rs10753191 1 179312752 [T/C] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Synonymous_V258V,Synonymous_V265V,Silent,Synonymous_V323V exm127049 1 179314143 [A/G] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_R285Q,Missense_R292Q,Silent,Missense_R350Q variant.8689 1 179314216 [T/C] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent rs13306729 1 179316687 [A/G] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent exm127054 1 179316801 [T/C] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_M330T,Missense_M337T,Silent,Missense_M395T variant.8690 1 179319566 [A/C] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_M419L,Missense_M426L,Silent,Missense_M484L rs3753527 1 179319580 [T/C] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 Silent,Silent,Silent,Silent exm127073 1 179320578 [A/G] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_Q461R,Missense_Q468R,Silent,Missense_Q526R indel.8691 1 179320587 [I/D] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON variant.8692 1 179320597 [T/C] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Synonymous_N467N,Synonymous_N474N,Silent,Synonymous_N532N exm127077 1 179322763 [A/G] NM_001252512,NM_001252511,NR_045530,NM_003101 SOAT1,SOAT1,SOAT1,SOAT1 EXON Missense_R482H,Missense_R489H,Silent,Missense_R547H rs10913736 1 179335366 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent indel.8693 1 179335710 [I/D] NM_144696,NR_073544 AXDND1,AXDND1 EXON 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 variant.8695 1 179339155 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Nonsense_R106X,Silent rs10798674 1 179347832 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Synonymous_V145V,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 newrs149782250 1 179354442 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Nonsense_R271X,Silent exm127118 1 179354495 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs12749461 1 179356378 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs4297245 1 179361178 [A/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 newrs148772825 1 179363138 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Nonsense_E322X,Silent exm127127 1 179363143 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_L323F,Silent rs4606280 1 179363954 [A/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent exm127129 1 179364256 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_H343R,Silent variant.8701 1 179364337 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_K370R,Silent rs4651025 1 179371973 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs4652380 1 179396444 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,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 indel.8703 1 179398755 [I/D] NM_144696,NR_073544 AXDND1,AXDND1 rs7555722 1 179399253 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs6659294 1 179404013 [A/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,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 rs4130266 1 179415532 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs12740455 1 179426390 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs12725126 1 179427632 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent variant.8707 1 179437596 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_P606L,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 rs10494519 1 179452381 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs962429 1 179452695 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs2225213 1 179458821 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent indel.8710 1 179460786 [I/D] NM_144696,NR_073544 AXDND1,AXDND1 EXON 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 indel.8711 1 179462040 [D/I] NM_144696,NR_073544 AXDND1,AXDND1 EXON exm1739369 1 179462067 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_Y790C,Silent variant.8712 1 179462086 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Synonymous_K796K,Silent exm-rs12047808 1 179469314 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs10913801 1 179471750 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs1329276 1 179473513 [A/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs1928004 1 179474053 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent variant.8714 1 179478511 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Nonsense_Y823X,Silent exm127198 1 179478525 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_R828Q,Silent rs10913805 1 179479012 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs7551440 1 179492085 [T/C] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent indel.8715 1 179494467 [I/D] NM_144696,NR_073544 AXDND1,AXDND1 exm127202 1 179494574 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 EXON Missense_A868T,Silent 1KG_1_179503892 1 179503892 [D/I] NM_144696,NR_073544 AXDND1,AXDND1 EXON 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 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 rs2296960 1 179514777 [T/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs10913815 1 179516738 [A/G] NM_144696,NR_073544 AXDND1,AXDND1 Silent,Silent rs2274622 1 179520050 [T/C] NM_144696,NR_073544,NM_014625 AXDND1,AXDND1,NPHS2 EXON Silent,Silent,Silent rs2274623 1 179520108 [T/C] NM_144696,NR_073544,NM_014625 AXDND1,AXDND1,NPHS2 EXON Silent,Silent,Silent rs1410592 1 179520506 [A/G] NM_144696,NR_073544,NM_014625 AXDND1,AXDND1,NPHS2 EXON Silent,Silent,Synonymous_A318A exm127242 1 179521794 [A/C] NM_144696,NR_073544,NM_014625 AXDND1,AXDND1,NPHS2 EXON Silent,Silent,Missense_G273W newrs61747727 1 179526175 [A/G] NM_014625 NPHS2 EXON Missense_A242V exm127251 1 179526214 [T/C] NM_014625 NPHS2 EXON Missense_R229Q exm127254 1 179526278 [T/C] NM_014625 NPHS2 EXON Missense_A208T newrs74315347 1 179526362 [T/C] NM_014625 NPHS2 EXON Missense_V180M exm127263 1 179530462 [T/C] NM_014625 NPHS2 EXON Missense_R138Q exm127281 1 179544941 [A/G] NM_014625 NPHS2 EXON Missense_P20L rs3930537 1 179553724 [A/G] rs6691184 1 179560154 [T/G] 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 rs1410594 1 179583165 [A/G] NM_001199091,NM_173533,NM_001199085,NM_001199089,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 Silent,Silent,Silent,Silent,Silent 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 rs4610966 1 179598179 [A/G] NM_001199091,NM_173533,NM_001199085,NM_001199089,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 Silent,Silent,Silent,Silent,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 indel.8731 1 179609187 [D/I] NM_001199091,NM_173533,NM_001199085,NM_001199089,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 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 rs11806102 1 179611021 [T/C] NM_001199091,NM_173533,NM_001199085,NM_001199089,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 Silent,Silent,Silent,Silent,Silent 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 rs12035247 1 179633040 [A/G] NM_001199091,NM_173533,NM_001199085,NM_001199089,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 Silent,Silent,Silent,Silent,Silent 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 rs4651045 1 179638838 [A/G] NM_001199091,NM_173533,NM_001199085,NM_001199089,NM_001199092 TDRD5,TDRD5,TDRD5,TDRD5,TDRD5 Silent,Silent,Silent,Silent,Silent exm2264925 1 179687259 [A/G] rs10913870 1 179687646 [T/C] rs2504033 1 179703019 [T/G] rs1052447 1 179711649 [T/G] rs2245195 1 179716507 [T/C] NM_173509 FAM163A Silent rs2487742 1 179727752 [T/C] NM_173509 FAM163A Silent rs2454199 1 179729554 [A/G] NM_173509 FAM163A Silent rs7514717 1 179745671 [T/C] NM_173509 FAM163A Silent rs6680679 1 179753147 [A/G] NM_173509 FAM163A Silent rs10913888 1 179757536 [A/G] NM_173509 FAM163A Silent rs12756748 1 179757855 [T/G] NM_173509 FAM163A Silent rs2647225 1 179770256 [T/C] NM_173509 FAM163A Silent rs2777920 1 179776841 [A/G] NM_173509 FAM163A Silent exm1739514 1 179783142 [C/G] NM_173509 FAM163A EXON Missense_R108G exm1739515 1 179783220 [C/G] NM_173509 FAM163A EXON Missense_P134A rs12118565 1 179788333 [T/C] rs1148821 1 179795505 [T/C] rs1281411 1 179814457 [A/C] NM_001199260,NM_145034 TOR1AIP2,TOR1AIP2 EXON Silent,Silent variant.8734 1 179815226 [A/C] NM_001199260,NM_145034 TOR1AIP2,TOR1AIP2 EXON Nonsense_E465X,Nonsense_E465X exm1739523 1 179815307 [A/T] NM_001199260,NM_145034 TOR1AIP2,TOR1AIP2 EXON Missense_M438L,Missense_M438L indel.8736 1 179815331 [I/D] NM_001199260,NM_145034 TOR1AIP2,TOR1AIP2 EXON exm127487 1 179820031 [T/C] NM_001199260,NM_145034 TOR1AIP2,TOR1AIP2 EXON Missense_S168G,Missense_S168G exm127496 1 179820243 [T/C] NM_001199260,NM_145034 TOR1AIP2,TOR1AIP2 EXON Missense_G97D,Missense_G97D exm127499 1 179820343 [A/C] NM_001199260,NM_145034 TOR1AIP2,TOR1AIP2 EXON Missense_A64S,Missense_A64S exm127502 1 179820394 [A/G] NM_001199260,NM_145034 TOR1AIP2,TOR1AIP2 EXON Missense_C47R,Missense_C47R exm127511 1 179833929 [T/C] NM_001199260,NM_145034,NM_022347 TOR1AIP2,TOR1AIP2,TOR1AIP2 EXON Silent,Silent,Missense_G128D rs7411457 1 179841753 [T/C] NM_001199260,NM_145034,NM_022347 TOR1AIP2,TOR1AIP2,TOR1AIP2 Silent,Silent,Silent 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 rs1281378 1 179852074 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_M146T,Missense_M146T 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 newrs2245425 1 179858444 [A/G] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 Silent,Silent rs7530362 1 179861042 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 Silent,Silent variant.8741 1 179869296 [T/G] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Nonsense_E217X,Nonsense_E216X 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 rs609521 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 newrs11581962 1 179883186 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Nonsense_R322X,Nonsense_R321X var_1_179883189 1 179883189 [T/C] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Nonsense_Q323X,Nonsense_Q322X 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 newrs138345857 1 179887078 [A/G] NM_001267578,NM_015602 TOR1AIP1,TOR1AIP1 EXON Missense_A487T,Missense_A486T rs539181 1 179900199 [A/C] rs561233 1 179906900 [A/G] rs12124175 1 179929388 [A/C] NM_014810 CEP350 Silent indel.8747 1 179956393 [D/I] NM_014810 CEP350 EXON 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 rs2501615 1 179964879 [A/G] NM_014810 CEP350 Silent variant.8748 1 179965686 [A/C] NM_014810 CEP350 Silent 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 1KG_1_179983136 1 179983136 [I/D] NM_014810 CEP350 EXON 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 rs7521948 1 179995975 [A/G] NM_014810 CEP350 Silent 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 rs6692394 1 180037987 [A/G] NM_014810 CEP350 Silent 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 variant.8753 1 180063751 [A/G] NM_014810 CEP350 EXON Synonymous_P2837P 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 rs12121845 1 180067988 [A/G] NM_014810 CEP350 Silent rs6425607 1 180075388 [A/G] NM_014810 CEP350 Silent rs6425609 1 180095348 [A/C] rs7551181 1 180099463 [T/C] rs6691435 1 180107859 [T/C] rs3845391 1 180119544 [T/G] exm127974 1 180124061 [C/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_G7R,Missense_G7R rs3767196 1 180124872 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 Silent,Silent exm127982 1 180135652 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_A98T,Missense_A98T exm127987 1 180135701 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_N114S,Missense_N114S rs6703180 1 180138800 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 Silent,Silent rs3767184 1 180141367 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 Silent,Silent rs2298206 1 180145088 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Synonymous_T145T,Synonymous_T145T exm128004 1 180145132 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_T160M,Missense_T160M variant.8756 1 180147932 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Synonymous_L173L,Synonymous_L173L exm128011 1 180148012 [G/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_G200A,Missense_G200A exm128015 1 180151343 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_A214V,Missense_A214V exm128018 1 180151349 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_R216H,Missense_R216H exm128021 1 180151426 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_R242W,Missense_R242W rs3842890 1 180154776 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 Silent,Silent variant.8757 1 180155243 [T/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Nonsense_E315X,Nonsense_E315X exm128033 1 180155276 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_R326C,Missense_R326C rs3767169 1 180157593 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 Silent,Silent exm128041 1 180158729 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_V354M,Missense_V354M exm128042 1 180158740 [T/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_W357C,Missense_W357C exm128049 1 180159620 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_P398L,Missense_P398L exm128051 1 180159622 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_H399Y,Missense_H399Y exm128055 1 180159679 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_A418T,Missense_A418T exm128059 1 180163390 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_H444R,Missense_H444R exm128062 1 180163416 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_A453T,Missense_A453T exm128065 1 180163458 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_V467M,Missense_V467M exm128070 1 180163519 [A/G] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_R487H,Missense_R487H exm128080 1 180165582 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_R552W,Missense_R552W exm128086 1 180165675 [A/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_P583T,Missense_P583T exm128087 1 180165699 [A/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_N591H,Missense_N591H rs3738115 1 180165699 [A/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Missense_N591H,Missense_N591H exm128093 1 180165742 [G/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Silent,Missense_R605P exm128101 1 180165885 [G/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Silent,Missense_A653P exm128109 1 180166002 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Silent,Missense_R692W exm128111 1 180166008 [T/C] NM_001004128,NM_002826 QSOX1,QSOX1 EXON Silent,Nonsense_R694X rs10913945 1 180169108 [T/C] NR_026900 FLJ23867 EXON Silent rs11126 1 180169330 [T/C] NR_026900 FLJ23867 EXON Silent rs6704314 1 180171254 [T/C] rs7521602 1 180177266 [T/G] rs6697992 1 180186713 [T/G] exm128123 1 180199701 [A/G] NM_033343 LHX4 EXON Missense_V13I rs6425616 1 180201184 [A/G] NM_033343 LHX4 Silent rs7525475 1 180206814 [A/G] NM_033343 LHX4 Silent rs4652490 1 180217250 [T/C] NM_033343 LHX4 Silent rs7539244 1 180219900 [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 indel.8770 1 180243679 [D/I] NM_033343,NR_037642 LHX4,LOC100527964 EXON 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 rs2764461 1 180256689 [T/G] rs16855749 1 180283265 [T/C] NM_032360 ACBD6 Silent rs6684596 1 180313672 [T/C] NM_032360 ACBD6 Silent rs17372362 1 180323689 [T/C] NM_032360 ACBD6 Silent rs6425625 1 180332045 [T/C] NM_032360 ACBD6 Silent rs4333819 1 180335264 [T/C] NM_032360 ACBD6 Silent rs4642852 1 180356025 [A/C] NM_032360 ACBD6 Silent exm128201 1 180366709 [T/C] NM_032360 ACBD6 EXON Missense_R202Q variant.8772 1 180366710 [A/G] NM_032360 ACBD6 EXON Nonsense_R202X rs7532806 1 180381923 [T/C] NM_032360 ACBD6 Silent rs6425635 1 180393514 [A/G] NM_032360 ACBD6 Silent rs16856007 1 180394157 [A/C] NM_032360 ACBD6 Silent rs10914007 1 180448546 [T/C] NM_032360 ACBD6 Silent exm128215 1 180471311 [A/G] NM_032360 ACBD6 EXON Missense_P31S rs3806301 1 180472298 [T/C] rs16856086 1 180493944 [A/G] rs4651067 1 180494062 [A/G] rs12039331 1 180501196 [A/G] exm2265061 1 180506038 [A/G] rs6425646 1 180510172 [T/C] rs7513944 1 180523777 [T/G] rs12562357 1 180534407 [T/C] rs2331545 1 180535972 [A/G] rs10733006 1 180540896 [A/G] rs4652519 1 180549164 [A/G] rs7519155 1 180560692 [T/G] rs10737348 1 180561644 [A/G] rs3843276 1 180570408 [A/G] rs9970363 1 180575168 [A/G] rs16856306 1 180587744 [A/G] rs3908502 1 180591237 [T/C] rs12079057 1 180633231 [T/C] NM_004736,NM_001135669 XPR1,XPR1 Silent,Silent rs12043745 1 180656059 [T/G] NM_004736,NM_001135669 XPR1,XPR1 Silent,Silent rs7556184 1 180657965 [T/G] NM_004736,NM_001135669 XPR1,XPR1 Silent,Silent rs10914077 1 180685921 [A/G] NM_004736,NM_001135669 XPR1,XPR1 Silent,Silent rs12408176 1 180692815 [T/C] NM_004736,NM_001135669 XPR1,XPR1 Silent,Silent rs10914083 1 180700133 [A/G] NM_004736,NM_001135669 XPR1,XPR1 Silent,Silent rs6700926 1 180722353 [A/G] NM_004736,NM_001135669 XPR1,XPR1 Silent,Silent rs1339768 1 180742308 [T/G] NM_004736,NM_001135669 XPR1,XPR1 Silent,Silent variant.8775 1 180780624 [A/G] NM_004736,NM_001135669 XPR1,XPR1 EXON Missense_A255T,Missense_A255T rs12075235 1 180800347 [T/C] NM_004736,NM_001135669 XPR1,XPR1 Silent,Silent rs7536258 1 180820794 [A/G] NM_004736,NM_001135669 XPR1,XPR1 Silent,Silent exm128327 1 180842993 [A/G] NM_004736,NM_001135669 XPR1,XPR1 EXON Missense_I575V,Missense_I510V variant.8776 1 180843078 [A/G] NM_004736,NM_001135669 XPR1,XPR1 EXON Missense_R603Q,Missense_R538Q newrs145195917 1 180849433 [A/G] NM_004736,NM_001135669 XPR1,XPR1 EXON Missense_Q677R,Missense_Q612R rs12088182 1 180853055 [T/G] NM_004736,NM_001135669 XPR1,XPR1 Silent,Silent rs12118635 1 180875730 [A/C] 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 rs7515553 1 180890173 [A/G] NM_020950 KIAA1614 Silent rs12735084 1 180893135 [T/C] NM_020950 KIAA1614 Silent rs2331901 1 180894304 [A/G] NM_020950 KIAA1614 Silent 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 rs3795504 1 180905448 [T/G] NM_020950 KIAA1614 EXON Missense_L801F 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] rs870046 1 180922807 [A/G] rs3737062 1 180931508 [T/G] rs12022368 1 180934047 [T/C] rs4651080 1 180934163 [A/G] rs2002041 1 180938117 [A/G] rs3747957 1 180953853 [A/G] NM_005819 STX6 EXON Synonymous_N217N exm128544 1 180953873 [T/C] NM_005819 STX6 EXON Missense_T211A rs7556005 1 180956195 [T/C] NM_005819 STX6 Silent 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 rs10494536 1 180975865 [T/C] NM_005819 STX6 Silent rs10159067 1 180999351 [T/C] rs3806284 1 181002479 [T/C] exm128590 1 181003160 [T/C] NM_001531,NM_001194999,NM_001195000,NM_001195035 MR1,MR1,MR1,MR1 EXON Missense_A6V,Missense_A6V,Missense_A6V,Missense_A6V variant.8794 1 181003210 [T/C] NM_001531,NM_001194999,NM_001195000,NM_001195035 MR1,MR1,MR1,MR1 EXON Missense_R23W,Missense_R23W,Missense_R23W,Missense_R23W rs6692913 1 181005644 [A/G] NM_001531,NM_001194999,NM_001195000,NM_001195035 MR1,MR1,MR1,MR1 Silent,Silent,Silent,Silent exm128609 1 181018422 [A/G] NM_001531,NM_001194999,NM_001195000,NM_001195035 MR1,MR1,MR1,MR1 EXON Missense_R101H,Missense_R101H,Missense_R101H,Missense_R101H indel.8796 1 181019199 [I/D] NM_001531,NM_001194999,NM_001195000,NM_001195035 MR1,MR1,MR1,MR1 EXON variant.8797 1 181019313 [A/G] NM_001531,NM_001194999,NM_001195000,NM_001195035 MR1,MR1,MR1,MR1 EXON Nonsense_W165X,Nonsense_W120X,Nonsense_W165X,Nonsense_W165X var_1_181019427 1 181019427 [A/C] NM_001531,NM_001194999,NM_001195000,NM_001195035 MR1,MR1,MR1,MR1 Silent,Silent,Silent,Silent exm128621 1 181021373 [T/C] NM_001531,NM_001194999,NM_001195000,NM_001195035 MR1,MR1,MR1,MR1 EXON Missense_P203S,Missense_P158S,Silent,Silent exm128627 1 181021487 [A/G] NM_001531,NM_001194999,NM_001195000,NM_001195035 MR1,MR1,MR1,MR1 EXON Missense_E241K,Missense_E196K,Silent,Silent rs3747956 1 181024404 [A/G] NM_001531,NM_001194999,NM_001195000,NM_001195035 MR1,MR1,MR1,MR1 EXON Silent,Silent,Silent,Silent rs12144382 1 181039039 [A/G] rs3856067 1 181045443 [T/G] rs4651082 1 181050713 [T/C] exm128645 1 181058084 [A/G] NM_016545 IER5 EXON Missense_G16S exm128676 1 181058796 [A/G] NM_016545 IER5 EXON Missense_G253E rs6658698 1 181060791 [A/G] rs7541438 1 181086687 [T/C] rs12025764 1 181095779 [T/C] rs6692991 1 181098795 [T/C] rs10910875 1 181108029 [A/G] rs881964 1 181109478 [T/C] rs12238995 1 181113441 [T/C] exm2250338 1 181116023 [T/C] rs11582767 1 181126503 [A/G] rs10910888 1 181147045 [A/G] rs16856832 1 181154036 [A/G] rs946646 1 181154835 [A/G] rs3827706 1 181160271 [T/C] rs7550430 1 181161153 [A/G] rs6679388 1 181174959 [T/G] rs4652591 1 181177854 [T/C] rs10797688 1 181181995 [T/C] rs6425678 1 181185861 [A/G] rs10797698 1 181199735 [T/C] rs10797699 1 181204194 [A/G] rs3911582 1 181210746 [T/C] rs11582429 1 181214224 [T/G] rs4652630 1 181227982 [A/G] rs4652633 1 181229553 [T/C] rs2168951 1 181233497 [T/G] rs12027236 1 181240106 [A/G] rs2501540 1 181243896 [T/C] rs7548701 1 181259796 [A/G] rs2804682 1 181263259 [T/C] rs2332203 1 181266420 [A/G] rs2609500 1 181270232 [A/G] rs7523745 1 181274415 [T/C] rs7548242 1 181296409 [A/G] rs12139587 1 181300447 [A/G] rs9803794 1 181309400 [A/G] rs12756919 1 181310522 [T/G] rs2609475 1 181336389 [T/C] rs6658713 1 181336528 [T/C] rs617322 1 181358407 [A/G] rs667586 1 181372624 [A/G] exm2259880 1 181384078 [T/G] rs10752856 1 181389092 [T/C] rs6696547 1 181393238 [T/C] rs601354 1 181397134 [A/G] rs681590 1 181408925 [A/G] rs3845431 1 181412487 [A/G] rs588789 1 181419678 [A/G] rs6424813 1 181433468 [A/G] rs553042 1 181456700 [T/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs4652661 1 181476430 [T/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs681271 1 181483786 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs683927 1 181489802 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs12402123 1 181490018 [T/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs625226 1 181500324 [T/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs6424814 1 181506017 [T/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs10910955 1 181519521 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs2332429 1 181525755 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs1953690 1 181534435 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs10797730 1 181541159 [T/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs7511748 1 181545037 [T/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs12135959 1 181545124 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs199950 1 181590858 [T/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs6691980 1 181596223 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs3845439 1 181609567 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs6675785 1 181614143 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs3820260 1 181638511 [T/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs10910979 1 181653111 [T/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs7513540 1 181672682 [T/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent exm128763 1 181701810 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Missense_R863Q,Missense_R844Q,Missense_R863Q exm128767 1 181701903 [T/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Missense_P894L,Missense_P875L,Missense_P894L exm128770 1 181701978 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Missense_R919Q,Missense_R900Q,Missense_R919Q exm128772 1 181701987 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Missense_R922Q,Missense_R903Q,Missense_R922Q exm128789 1 181702689 [T/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Missense_T1022M,Missense_T1003M,Missense_T1022M rs7418539 1 181704788 [A/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs3767000 1 181712290 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs3767001 1 181712376 [T/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs3767003 1 181716658 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs697259 1 181736189 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent rs199930 1 181741301 [T/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Synonymous_N1691N,Synonymous_N1672N,Synonymous_N1691N rs473200 1 181754803 [T/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E Silent,Silent,Silent exm1740150 1 181754870 [T/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Missense_R1901C,Missense_R1882C,Missense_R1901C exm128871 1 181754879 [A/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Missense_P1904T,Missense_P1885T,Missense_P1904T exm128872 1 181754880 [T/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Missense_P1904L,Missense_P1885L,Missense_P1904L rs704326 1 181759657 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Missense_A1955T,Missense_A1936T,Missense_A1955T exm128885 1 181759657 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Missense_A1955T,Missense_A1936T,Missense_A1955T exm128904 1 181765920 [G/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Missense_A2109P,Missense_A2047P,Missense_A2066P exm128913 1 181767498 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Missense_R2157Q,Missense_R2095Q,Missense_R2114Q exm128919 1 181767543 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Missense_Y2172C,Missense_Y2110C,Missense_Y2129C exm128923 1 181767564 [T/C] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Missense_A2179V,Missense_A2117V,Missense_A2136V exm128929 1 181767653 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Missense_E2209K,Missense_E2147K,Missense_E2166K exm128932 1 181767749 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Missense_A2241T,Missense_A2179T,Missense_A2198T exm128935 1 181767860 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Missense_M2278V,Missense_M2216V,Missense_M2235V rs3681 1 181773948 [A/G] NM_001205293,NM_001205294,NM_000721 CACNA1E,CACNA1E,CACNA1E EXON Silent,Silent,Silent exm2250341 1 181778329 [A/C] rs509391 1 181782017 [A/C] rs511136 1 181804790 [A/G] rs659234 1 181808610 [A/G] rs12071191 1 181813549 [A/G] rs486003 1 181813769 [A/G] rs695072 1 181816509 [T/C] rs12410953 1 181843583 [T/C] rs6701187 1 181850780 [A/G] rs498212 1 181870217 [T/C] rs4651117 1 181888775 [A/C] rs2262513 1 181914287 [A/C] rs12039940 1 181952711 [T/C] rs10911006 1 181954718 [T/G] rs3904616 1 181972879 [A/G] rs6700658 1 182005722 [T/C] rs11802562 1 182024515 [T/C] NM_001009992 ZNF648 EXON Silent 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 rs12568050 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 rs10797752 1 182053214 [T/C] rs7540941 1 182054142 [A/G] rs3856106 1 182054977 [T/C] rs3856109 1 182069992 [T/C] rs10911021 1 182081960 [T/C] rs1281331 1 182094598 [A/G] rs16858559 1 182098096 [A/G] rs1281322 1 182101577 [A/G] rs3908797 1 182102857 [T/C] rs3795489 1 182107068 [A/G] rs6674234 1 182108102 [A/G] rs1689804 1 182121598 [A/G] rs16858588 1 182130704 [A/G] rs10911029 1 182131294 [A/G] rs1689791 1 182151909 [A/G] exm-rs1689800 1 182168885 [A/G] rs10911031 1 182173711 [A/G] rs1779819 1 182178482 [A/G] rs10911032 1 182185360 [T/C] rs10494545 1 182200659 [T/C] rs2251093 1 182226964 [A/G] rs7524031 1 182244786 [A/G] rs6659875 1 182259826 [A/C] rs4600010 1 182262763 [A/C] rs2494466 1 182264659 [A/G] rs3118146 1 182267259 [T/G] rs2494467 1 182283352 [A/G] rs6703548 1 182291435 [T/G] rs4075837 1 182301508 [T/C] rs10797768 1 182312476 [A/G] rs2246119 1 182315534 [T/G] rs11587233 1 182319534 [A/C] rs2256956 1 182319935 [A/G] rs2494461 1 182327842 [A/C] rs2252633 1 182331836 [A/C] exm2264928 1 182333131 [A/G] rs2252483 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 newrs140378060 1 182354890 [T/C] NM_001033056,NM_002065,NM_001033044 GLUL,GLUL,GLUL Silent,Silent,Silent exm129048 1 182355519 [A/G] NM_001033056,NM_002065,NM_001033044 GLUL,GLUL,GLUL EXON Missense_T116I,Missense_T116I,Missense_T116I rs12136955 1 182358944 [A/G] NM_001033056,NM_002065,NM_001033044 GLUL,GLUL,GLUL Silent,Silent,Silent rs12403634 1 182360315 [T/C] NM_001033056,NM_002065,NM_001033044 GLUL,GLUL,GLUL EXON Silent,Silent,Silent indel.8812 1 182368945 [I/D] NM_172000 TEDDM1 EXON 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 indel.8814 1 182369416 [I/D] NM_172000 TEDDM1 EXON exm129090 1 182369460 [A/G] NM_172000 TEDDM1 EXON Missense_L54P rs2148026 1 182372452 [A/G] rs6692352 1 182397765 [T/C] rs6659412 1 182398201 [T/C] rs497915 1 182406654 [A/G] rs6677117 1 182410409 [A/G] rs267866 1 182420448 [A/G] NM_001137669 RGSL1 Silent 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 rs2477875 1 182433987 [T/C] NM_001137669 RGSL1 Silent indel.8816 1 182441538 [D/I] NM_001137669 RGSL1 EXON 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 rs4271175 1 182446188 [T/G] NM_001137669 RGSL1 Silent rs12024567 1 182457029 [T/G] NM_001137669 RGSL1 Silent exm129137 1 182458122 [A/G] NM_001137669 RGSL1 EXON Missense_N501S rs563988 1 182474160 [T/C] NM_001137669 RGSL1 Silent rs266511 1 182497021 [A/C] NM_001137669 RGSL1 Silent 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 rs4119585 1 182511398 [T/G] NM_001137669 RGSL1 Silent exm129185 1 182520258 [A/G] NM_001137669 RGSL1 EXON Missense_R986H rs10494533 1 182526585 [A/G] NM_001137669 RGSL1 Silent rs501085 1 182526839 [A/C] NM_001137669 RGSL1 Silent rs10911097 1 182527409 [A/G] NM_001137669 RGSL1 Silent rs11072 1 182543331 [A/G] NM_021133 RNASEL EXON Silent exm129199 1 182544687 [A/G] NM_021133 RNASEL EXON Missense_S689F newrs139877811 1 182544705 [A/C] NM_021133 RNASEL EXON Nonsense_L683X exm1740259 1 182545436 [A/C] NM_021133 RNASEL EXON Missense_F665C indel.8822 1 182545438 [I/D] NM_021133 RNASEL EXON 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 indel.8825 1 182555468 [I/D] NM_021133 RNASEL EXON variant.8826 1 182555479 [A/G] NM_021133 RNASEL EXON Nonsense_R155X 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 newrs74315365 1 182555939 [T/C] NM_021133 RNASEL EXON Missense_M1I rs3738579 1 182556036 [A/G] NM_021133 RNASEL EXON Silent rs682585 1 182559510 [T/C] 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 variant.8832 1 182572359 [T/C] NM_002928 RGS16 Silent rs516567 1 182579035 [T/C] exm2265062 1 182584206 [A/G] rs1287816 1 182589991 [A/G] rs672684 1 182596728 [T/G] rs4652738 1 182613666 [A/G] rs1758779 1 182616136 [T/G] NM_001102450,NM_033345 RGS8,RGS8 Silent,Silent 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 rs10797788 1 182623509 [A/G] NM_001102450,NM_033345 RGS8,RGS8 Silent,Silent rs4652741 1 182626738 [A/C] NM_001102450,NM_033345 RGS8,RGS8 Silent,Silent rs587306 1 182632455 [A/G] NM_001102450,NM_033345 RGS8,RGS8 Silent,Silent exm129362 1 182640864 [T/C] NM_001102450,NM_033345 RGS8,RGS8 EXON Silent,Missense_N3S rs524269 1 182646148 [A/G] rs6672020 1 182664258 [A/C] rs508607 1 182679351 [A/G] rs621071 1 182682811 [T/C] rs2482806 1 182684087 [A/C] rs490285 1 182705001 [A/C] rs6660584 1 182731008 [A/G] rs12118059 1 182740586 [A/C] rs10797793 1 182746231 [A/G] variant.8836 1 182763490 [T/G] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL Silent,Silent,Silent,Silent,Silent exm129372 1 182763556 [T/C] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL EXON Missense_T17M,Silent,Missense_T17M,Missense_T17M,Missense_T17M var_1_182763575 1 182763576 [I/D] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL rs7554927 1 182766498 [T/G] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL Silent,Silent,Silent,Silent,Silent exm1740386 1 182772897 [A/G] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL EXON Missense_N45D,Silent,Missense_N45D,Missense_N45D,Missense_N45D exm129388 1 182781313 [A/G] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL EXON Missense_V85I,Missense_V66I,Missense_V85I,Missense_V85I,Missense_V85I variant.8842 1 182783994 [A/G] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL Silent,Silent,Silent,Silent,Silent rs2275171 1 182784022 [T/C] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL Silent,Silent,Silent,Silent,Silent exm129396 1 182785882 [G/C] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL EXON Missense_A133G,Missense_A114G,Missense_A133G,Missense_A133G,Missense_A133G exm129398 1 182785893 [C/G] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL EXON Missense_A137P,Missense_A118P,Missense_A137P,Missense_A137P,Missense_A137P exm129400 1 182785920 [A/C] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL EXON Missense_P146T,Missense_P127T,Missense_P146T,Missense_P146T,Missense_P146T indel.8843 1 182785931 [I/D] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL EXON rs12080837 1 182786953 [T/C] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL Silent,Silent,Silent,Silent,Silent exm129402 1 182787685 [A/C] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL EXON Missense_E156A,Missense_E137A,Missense_E156A,Missense_E156A,Missense_E156A variant.8844 1 182787726 [T/C] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL EXON Nonsense_Q170X,Nonsense_Q151X,Nonsense_Q170X,Nonsense_Q170X,Nonsense_Q170X exm129410 1 182787816 [A/G] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL EXON Missense_V200M,Missense_V181M,Missense_V200M,Missense_V200M,Missense_V200M exm129418 1 182787975 [C/G] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL EXON Missense_A212P,Missense_A193P,Missense_A212P,Silent,Missense_A212P exm129434 1 182797946 [T/C] NM_030769,NM_001200050,NM_001200056,NM_001200051,NM_001200052 NPL,NPL,NPL,NPL,NPL EXON Missense_S289F,Missense_S270F,Silent,Silent,Silent var_1_182822497 1 182822497 [T/C] NM_001357,NR_033302 DHX9,DHX9 EXON Nonsense_R141X,Silent indel.8846 1 182827376 [I/D] NM_001357,NR_033302 DHX9,DHX9 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 indel.8847 1 182869273 [I/D] NM_030933 SHCBP1L EXON exm129531 1 182869312 [A/G] NM_030933 SHCBP1L EXON Missense_Y590H variant.8849 1 182872174 [T/C] NM_030933 SHCBP1L EXON Synonymous_K570K 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 rs6681606 1 182878158 [A/G] NM_030933 SHCBP1L Silent 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 variant.8854 1 182908690 [T/C] NM_030933 SHCBP1L Silent 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 rs3814325 1 182922975 [A/C] rs10797795 1 182931205 [T/C] rs13375863 1 182931946 [T/C] rs6697240 1 182935574 [A/G] rs9943111 1 182937401 [A/G] rs6664353 1 182938102 [A/G] rs10737235 1 182971816 [T/C] exm2264929 1 182973491 [A/G] rs12138053 1 182979560 [T/C] exm129612 1 182993159 [T/C] NM_002293 LAMC1 EXON Missense_A103V kgp22539 1 182996234 [T/C] NM_002293 LAMC1 Silent rs4651138 1 183001312 [A/C] NM_002293 LAMC1 Silent rs10752897 1 183071024 [T/C] NM_002293 LAMC1 Silent 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 rs2296292 1 183086757 [A/C] NM_002293 LAMC1 EXON Synonymous_A592A 1KG_1_183087268 1 183087268 [D/I] NM_002293 LAMC1 EXON rs3768622 1 183090011 [A/G] NM_002293 LAMC1 Silent 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 variant.8858 1 183099689 [A/G] NM_002293 LAMC1 Silent exm129788 1 183100512 [T/C] NM_002293 LAMC1 EXON Missense_R1189C variant.8859 1 183100518 [T/C] NM_002293 LAMC1 Silent 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 rs1547715 1 183113952 [A/G] NM_002293 LAMC1 EXON Silent rs6690340 1 183116686 [A/G] rs10911269 1 183134719 [A/G] rs16860429 1 183148228 [A/G] rs2276543 1 183155305 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Silent,Silent rs547905 1 183157924 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 Silent,Silent rs1005716 1 183159377 [T/C] NM_018891,NM_005562 LAMC2,LAMC2 Silent,Silent rs661451 1 183169690 [T/C] NM_018891,NM_005562 LAMC2,LAMC2 Silent,Silent exm-rs1028771 1 183170948 [A/C] NM_018891,NM_005562 LAMC2,LAMC2 Silent,Silent rs10494560 1 183172548 [T/C] NM_018891,NM_005562 LAMC2,LAMC2 Silent,Silent exm-rs525410 1 183176430 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 Silent,Silent exm129858 1 183177132 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_E66K,Missense_E66K rs2274980 1 183184616 [T/C] NM_018891,NM_005562 LAMC2,LAMC2 EXON Synonymous_S99S,Synonymous_S99S exm129867 1 183184621 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_R101Q,Missense_R101Q exm129869 1 183184650 [C/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_A111P,Missense_A111P exm129872 1 183184662 [G/C] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_R115G,Missense_R115G exm129875 1 183184690 [T/C] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_T124M,Missense_T124M exm2232003 1 183187575 [T/C] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_A152V,Missense_A152V exm129886 1 183187613 [T/C] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_R165C,Missense_R165C exm129887 1 183189965 [T/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_R170L,Missense_R170L exm129889 1 183190045 [T/C] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_R197C,Missense_R197C exm129890 1 183190055 [A/C] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_A200E,Missense_A200E exm129893 1 183191262 [T/C] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_P227S,Missense_P227S exm2232004 1 183192273 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_K256R,Missense_K256R rs1047980 1 183192304 [T/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Synonymous_G266G,Synonymous_G266G exm129903 1 183192389 [T/C] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_R295W,Missense_R295W exm129904 1 183192390 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_R295Q,Missense_R295Q exm129905 1 183192395 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_T297A,Missense_T297A rs3738824 1 183192496 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 Silent,Silent newrs149195906 1 183194742 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 Silent,Silent exm129912 1 183194744 [T/C] NM_018891,NM_005562 LAMC2,LAMC2 EXON Synonymous_L319L,Synonymous_L319L exm129920 1 183195913 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_I383V,Missense_I383V exm1740727 1 183195980 [T/C] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_A405V,Missense_A405V exm129927 1 183196682 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_I440V,Missense_I440V exm129940 1 183196831 [T/C] NM_018891,NM_005562 LAMC2,LAMC2 EXON Synonymous_T489T,Synonymous_T489T exm129942 1 183197595 [T/C] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_C519R,Missense_C519R exm129946 1 183197677 [A/C] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_A546D,Missense_A546D exm129951 1 183200177 [T/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_G599V,Missense_G599V exm129954 1 183200188 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_E603K,Missense_E603K exm1740740 1 183201336 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_M624I,Missense_M624I indel.8861 1 183201455 [I/D] NM_018891,NM_005562 LAMC2,LAMC2 EXON exm129970 1 183201853 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_R694H,Missense_R694H exm129971 1 183201877 [T/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_V702G,Missense_V702G exm129973 1 183201922 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_R717Q,Missense_R717Q exm129979 1 183204796 [T/C] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_A796V,Missense_A796V exm129984 1 183204831 [C/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_P808A,Missense_P808A exm129990 1 183205654 [T/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_I839S,Missense_I839S exm130002 1 183206566 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_R894H,Missense_R894H exm130008 1 183207460 [A/T] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_S925T,Missense_S925T variant.8864 1 183209436 [A/G] NM_018891,NM_005562 LAMC2,LAMC2 EXON Missense_E1080K,Missense_E1080K exm130041 1 183212369 [A/G] NM_005562 LAMC2 EXON Missense_R1139Q exm2273342 1 183212548 [T/G] NM_005562 LAMC2 EXON Silent rs549191 1 183220937 [A/G] NM_170706,NM_015039 NMNAT2,NMNAT2 EXON Silent,Silent exm130051 1 183221878 [T/C] NM_170706,NM_015039 NMNAT2,NMNAT2 EXON Synonymous_R269R,Synonymous_R274R exm130063 1 183253173 [A/G] NM_170706,NM_015039 NMNAT2,NMNAT2 EXON Synonymous_D172D,Synonymous_D177D newrs144536172 1 183255792 [T/C] NM_170706,NM_015039 NMNAT2,NMNAT2 Silent,Silent exm130075 1 183255908 [T/C] NM_170706,NM_015039 NMNAT2,NMNAT2 EXON Missense_I108V,Missense_I113V rs2480767 1 183257218 [T/C] NM_170706,NM_015039 NMNAT2,NMNAT2 Silent,Silent rs2301877 1 183259125 [A/G] NM_170706,NM_015039 NMNAT2,NMNAT2 Silent,Silent rs10752907 1 183263356 [T/G] NM_170706,NM_015039 NMNAT2,NMNAT2 Silent,Silent rs4652795 1 183266182 [T/C] NM_170706,NM_015039 NMNAT2,NMNAT2 Silent,Silent rs2276879 1 183273751 [T/C] NM_170706,NM_015039 NMNAT2,NMNAT2 Silent,Silent rs602182 1 183279029 [T/G] NM_015039 NMNAT2 Silent rs616545 1 183298150 [A/G] NM_015039 NMNAT2 Silent rs10797875 1 183298502 [T/C] NM_015039 NMNAT2 Silent rs675220 1 183302111 [T/C] NM_015039 NMNAT2 Silent rs595684 1 183310300 [T/C] NM_015039 NMNAT2 Silent rs664422 1 183325722 [T/C] NM_015039 NMNAT2 Silent rs2811558 1 183330413 [T/G] NM_015039 NMNAT2 Silent rs2022013 1 183353853 [T/C] NM_015039 NMNAT2 Silent rs2078087 1 183358405 [T/C] NM_015039 NMNAT2 Silent rs1819628 1 183358440 [T/C] NM_015039 NMNAT2 Silent rs3120798 1 183373665 [T/C] NM_015039 NMNAT2 Silent variant.8867 1 183387361 [T/G] NM_015039 NMNAT2 EXON Nonsense_C14X rs12144629 1 183397899 [T/C] rs2788056 1 183400890 [T/C] rs4047801 1 183415318 [A/G] rs4652802 1 183426758 [A/G] rs2275675 1 183439483 [T/C] NR_040063 SMG7-AS1 Silent rs2226099 1 183449357 [T/C] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 Silent,Silent,Silent,Silent exm130093 1 183485010 [T/C] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 EXON Synonymous_D21D,Silent,Synonymous_D21D,Synonymous_D21D exm130107 1 183495812 [A/G] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 EXON Missense_K132E,Missense_K90E,Missense_K132E,Missense_K132E exm130110 1 183495830 [A/G] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 EXON Missense_A138T,Missense_A96T,Missense_A138T,Missense_A138T rs12144253 1 183497627 [A/G] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 Silent,Silent,Silent,Silent exm130117 1 183498535 [A/G] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 EXON Missense_R237Q,Missense_R195Q,Missense_R237Q,Missense_R237Q exm1740818 1 183498580 [T/C] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 EXON Missense_A252V,Missense_A210V,Missense_A252V,Missense_A252V exm130128 1 183502880 [A/G] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 EXON Missense_Y359C,Missense_Y317C,Missense_Y359C,Missense_Y359C exm2232008 1 183502945 [T/G] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 EXON Missense_A381S,Missense_A339S,Missense_A381S,Missense_A381S newrs138210138 1 183510239 [T/G] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 Silent,Silent,Silent,Silent variant.8869 1 183510243 [A/G] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 Silent,Silent,Silent,Silent exm130144 1 183511350 [C/G] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 EXON Missense_G519R,Missense_G477R,Missense_G519R,Missense_G519R exm130158 1 183514112 [A/G] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 EXON Missense_M679V,Missense_M637V,Missense_M633V,Missense_M633V exm1740835 1 183514262 [A/G] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 EXON Missense_M729V,Missense_M687V,Missense_M683V,Missense_M683V exm1740836 1 183514391 [A/C] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 EXON Missense_T772P,Missense_T730P,Missense_T726P,Missense_T726P exm130185 1 183515428 [A/G] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 EXON Missense_V900I,Missense_V858I,Missense_V854I,Missense_V854I exm130190 1 183516241 [T/C] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 EXON Silent,Missense_P874S,Silent,Missense_P870S exm130206 1 183520043 [A/C] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 EXON Missense_K1047N,Missense_K1055N,Missense_K1001N,Missense_K1051N exm130207 1 183520048 [T/A] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 EXON Missense_D1049V,Missense_D1057V,Missense_D1003V,Missense_D1053V exm130211 1 183520215 [A/G] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 EXON Missense_T1064A,Missense_T1072A,Missense_T1018A,Missense_T1068A exm130212 1 183520216 [T/C] NM_173156,NM_001174061,NM_201568,NM_201569 SMG7,SMG7,SMG7,SMG7 EXON Missense_T1064M,Missense_T1072M,Missense_T1018M,Missense_T1068M exm130222 1 183525282 [C/G] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Missense_D518H,Missense_D437H,Missense_D518H,Missense_D473H exm130227 1 183529339 [A/G] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Missense_P454S,Missense_P373S,Missense_P454S,Missense_P409S exm130230 1 183532364 [T/A] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Missense_N419I,Missense_N338I,Missense_N419I,Missense_N374I exm130236 1 183532436 [T/C] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Missense_R395Q,Missense_R314Q,Missense_R395Q,Missense_R350Q exm130237 1 183532437 [A/G] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Missense_R395W,Missense_R314W,Missense_R395W,Missense_R350W exm130239 1 183532580 [T/G] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Missense_H389Q,Missense_H308Q,Missense_H389Q,Missense_H344Q exm130240 1 183532590 [T/C] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Missense_R386Q,Missense_R305Q,Missense_R386Q,Missense_R341Q exm130243 1 183532666 [T/A] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Missense_T361S,Missense_T280S,Missense_T361S,Missense_T316S exm130253 1 183534901 [A/G] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Missense_P313L,Missense_P232L,Missense_P313L,Missense_P268L exm130257 1 183536089 [A/G] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Missense_V297A,Missense_V216A,Missense_V297A,Missense_V252A exm130259 1 183536358 [A/G] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Missense_T279M,Missense_T198M,Missense_T279M,Missense_T234M exm130264 1 183538298 [A/G] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Missense_P231L,Missense_P150L,Missense_P231L,Missense_P186L exm2250359 1 183542323 [T/C] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Synonymous_A202A,Silent,Synonymous_A202A,Synonymous_A157A exm130272 1 183542366 [T/C] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Missense_R188K,Silent,Missense_R188K,Missense_R143K rs2274064 1 183542387 [T/C] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Missense_K181R,Silent,Missense_K181R,Missense_K136R exm130273 1 183542387 [T/C] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Missense_K181R,Silent,Missense_K181R,Missense_K136R rs12753665 1 183546061 [A/G] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 Silent,Silent,Silent,Silent variant.8877 1 183546796 [A/G] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Nonsense_R102X,Nonsense_R102X,Nonsense_R102X,Nonsense_R102X rs10911362 1 183548992 [A/G] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 Silent,Silent,Silent,Silent exm130289 1 183559352 [T/C] NM_001127651,NM_001190789,NM_000433,NM_001190794 NCF2,NCF2,NCF2,NCF2 EXON Missense_R38Q,Missense_R38Q,Missense_R38Q,Missense_R38Q rs3754515 1 183562782 [A/C] rs11755 1 183596136 [A/G] NM_001270439,NM_005717 ARPC5,ARPC5 EXON Silent,Silent rs10911382 1 183597537 [T/C] NM_001270439,NM_005717 ARPC5,ARPC5 Silent,Silent exm130314 1 183602251 [T/C] NM_001270439,NM_005717 ARPC5,ARPC5 EXON Missense_N64S,Missense_N61S rs1174656 1 183616687 [A/G] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Silent rs10911389 1 183616805 [T/C] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Silent indel.8878 1 183616824 [I/D] NM_015149,NM_203454 RGL1,APOBEC4 EXON 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 rs1174657 1 183616926 [T/C] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Missense_K331E 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 newrs143188677 1 183617298 [A/C] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Nonsense_G207X 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 variant.8881 1 183617913 [A/C] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Nonsense_E2X rs6661715 1 183622314 [A/G] NM_015149,NM_203454 RGL1,APOBEC4 EXON Silent,Silent rs10911417 1 183667375 [A/C] NM_015149 RGL1 Silent rs17559937 1 183684569 [A/G] NM_015149 RGL1 Silent rs1952234 1 183754706 [T/C] NM_015149 RGL1 Silent rs2500097 1 183765059 [T/C] NM_015149 RGL1 Silent rs16861532 1 183769285 [T/C] NM_015149 RGL1 Silent rs10082229 1 183772418 [A/G] NM_015149 RGL1 Silent rs11580938 1 183781391 [T/C] NM_015149 RGL1 Silent rs10911443 1 183792288 [T/C] NM_015149 RGL1 Silent rs4652825 1 183793323 [A/G] NM_015149 RGL1 Silent rs6424913 1 183798877 [A/G] NM_015149 RGL1 Silent rs2500116 1 183801920 [A/G] NM_015149 RGL1 Silent exm2268793 1 183808474 [T/G] NM_015149 RGL1 Silent rs2500103 1 183811777 [A/G] NM_015149 RGL1 Silent rs2500102 1 183811931 [A/G] NM_015149 RGL1 Silent rs3010055 1 183817289 [T/G] NM_015149 RGL1 Silent rs3002652 1 183830469 [A/G] NM_015149 RGL1 Silent rs9425322 1 183834061 [A/G] NM_015149 RGL1 Silent exm130389 1 183835130 [A/G] NM_015149 RGL1 EXON Synonymous_R151R rs4651156 1 183837032 [A/G] NM_015149 RGL1 Silent exm-rs4651156 1 183837032 [A/G] NM_015149 RGL1 Silent rs10911457 1 183843104 [T/C] NM_015149 RGL1 Silent rs12563514 1 183844367 [T/C] 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 rs11585126 1 183850901 [A/G] NM_015149 RGL1 Silent 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 rs12031722 1 183866849 [T/G] NM_015149 RGL1 Silent exm130447 1 183881368 [T/C] NM_015149 RGL1 EXON Missense_T607I rs10797921 1 183886016 [A/G] NM_015149 RGL1 Silent rs6658545 1 183887602 [A/G] NM_015149 RGL1 Silent exm130471 1 183895347 [A/G] NM_015149 RGL1 EXON Missense_R778H exm2232016 1 183895383 [A/G] NM_015149 RGL1 EXON Missense_K790R rs7522001 1 183898790 [T/C] 1KG_1_183899380 1 183899380 [D/I] rs3814332 1 183907291 [A/G] NM_015101 GLT25D2 EXON Silent 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 rs2296713 1 183909717 [A/G] NM_015101 GLT25D2 EXON Synonymous_P534P exm130487 1 183909728 [T/C] NM_015101 GLT25D2 EXON Missense_N531D indel.8882 1 183909752 [D/I] NM_015101 GLT25D2 EXON exm130490 1 183909818 [T/C] NM_015101 GLT25D2 EXON Missense_V501I exm130502 1 183913447 [T/C] NM_015101 GLT25D2 EXON Missense_R427Q variant.8883 1 183913459 [T/C] NM_015101 GLT25D2 Silent exm1741004 1 183914577 [T/C] NM_015101 GLT25D2 EXON Missense_V420I exm130507 1 183914627 [A/G] NM_015101 GLT25D2 EXON Missense_S403F var_1_183914643 1 183914643 [A/G] NM_015101 GLT25D2 EXON Nonsense_R398X exm130511 1 183914681 [A/T] NM_015101 GLT25D2 EXON Missense_Q385L exm2250362 1 183918820 [T/G] NM_015101 GLT25D2 Silent variant.8885 1 183920141 [T/C] NM_015101 GLT25D2 EXON Missense_K379R exm1741008 1 183920187 [A/G] NM_015101 GLT25D2 EXON Missense_Y364H exm1741009 1 183920208 [T/C] NM_015101 GLT25D2 EXON Missense_D357N rs2986550 1 183922435 [A/G] NM_015101 GLT25D2 Silent exm130521 1 183923972 [A/G] NM_015101 GLT25D2 EXON Missense_I318T rs12096645 1 183929771 [T/C] NM_015101 GLT25D2 Silent exm130527 1 183933115 [T/C] NM_015101 GLT25D2 EXON Missense_Y291C rs12725649 1 183933498 [T/C] NM_015101 GLT25D2 Silent rs4651158 1 183938304 [A/C] NM_015101 GLT25D2 Silent 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 variant.8888 1 183938609 [T/C] NM_015101 GLT25D2 Silent exm130550 1 183942838 [A/G] NM_015101 GLT25D2 EXON Missense_L180P exm130553 1 183942850 [T/G] NM_015101 GLT25D2 EXON Missense_Q176P rs2296714 1 183942950 [T/C] NM_015101 GLT25D2 Silent exm130554 1 183944245 [A/C] NM_015101 GLT25D2 EXON Missense_S160A rs2182626 1 183945447 [A/G] NM_015101 GLT25D2 Silent rs3930248 1 183954003 [A/G] NM_015101 GLT25D2 Silent rs7519097 1 183966166 [A/G] NM_015101 GLT25D2 Silent exm2259885 1 183979248 [T/C] NM_015101 GLT25D2 Silent rs7529873 1 183979966 [A/G] NM_015101 GLT25D2 Silent rs10911492 1 183985203 [T/C] NM_015101 GLT25D2 Silent rs10494573 1 183997429 [T/C] NM_015101 GLT25D2 Silent rs10911498 1 184001499 [T/C] NM_015101 GLT25D2 Silent rs756199 1 184002874 [A/G] 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 rs10494574 1 184010727 [A/C] exm-rs2274432 1 184020945 [A/G] NM_001127394,NR_023349,NM_052965 TSEN15,TSEN15,TSEN15 EXON Missense_G19D,Silent,Missense_G19D exm130582 1 184023529 [A/C] NM_001127394,NR_023349,NM_052965 TSEN15,TSEN15,TSEN15 EXON Missense_Q59H,Silent,Missense_Q59H rs16822379 1 184027676 [T/C] NM_001127394,NR_023349,NM_052965 TSEN15,TSEN15,TSEN15 Silent,Silent,Silent rs6700096 1 184038151 [T/C] NM_001127394,NR_023349,NM_052965 TSEN15,TSEN15,TSEN15 Silent,Silent,Silent rs10911506 1 184053769 [A/G] rs16822450 1 184069215 [A/G] rs10911518 1 184111365 [A/G] rs6424925 1 184128264 [A/G] rs12119930 1 184145642 [A/G] rs4650656 1 184148645 [T/C] rs6424930 1 184158796 [T/C] rs2025808 1 184161757 [A/C] rs10911524 1 184169492 [A/G] rs12136030 1 184174866 [T/C] rs6696916 1 184192465 [A/G] rs1854085 1 184192838 [T/C] rs714625 1 184208586 [A/G] rs2840274 1 184210805 [A/G] rs12754974 1 184215054 [T/C] rs1930285 1 184217979 [T/C] rs10911551 1 184241399 [T/C] rs16822764 1 184261108 [A/C] rs1930290 1 184272584 [T/C] rs10911555 1 184282979 [A/G] rs12128914 1 184287575 [T/C] rs2151171 1 184298164 [A/G] rs12119892 1 184304073 [A/G] rs4568789 1 184314411 [A/G] rs10797957 1 184318553 [A/G] rs12407200 1 184319293 [T/G] rs4288563 1 184324486 [T/C] rs6683308 1 184336331 [T/C] rs6683726 1 184336748 [T/C] rs10911592 1 184352288 [A/C] rs2207524 1 184369713 [T/G] NM_030806 C1orf21 Silent rs732959 1 184374910 [T/C] NM_030806 C1orf21 Silent rs6696161 1 184375503 [A/G] NM_030806 C1orf21 Silent rs6666696 1 184386071 [T/C] NM_030806 C1orf21 Silent rs10158710 1 184398346 [A/C] NM_030806 C1orf21 Silent rs6695258 1 184408478 [A/C] NM_030806 C1orf21 Silent exm2268957 1 184410702 [T/C] NM_030806 C1orf21 Silent rs2207526 1 184432880 [A/G] NM_030806 C1orf21 Silent rs10489726 1 184440620 [T/C] NM_030806 C1orf21 Silent rs12043012 1 184443829 [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 rs7513091 1 184488963 [T/C] NM_030806 C1orf21 Silent rs1416751 1 184498780 [T/C] NM_030806 C1orf21 Silent rs1339563 1 184503803 [A/G] NM_030806 C1orf21 Silent rs749214 1 184536171 [T/C] NM_030806 C1orf21 Silent rs10911612 1 184539342 [A/G] NM_030806 C1orf21 Silent exm130613 1 184567536 [A/G] NM_030806 C1orf21 EXON Missense_M90V rs6695173 1 184577317 [T/G] NM_030806 C1orf21 Silent rs4651223 1 184580250 [T/C] NM_030806 C1orf21 Silent rs1572766 1 184602236 [A/G] rs7540093 1 184603098 [A/G] rs10797982 1 184622136 [A/C] rs9286853 1 184639886 [A/G] exm2264931 1 184653521 [A/G] rs6677073 1 184656801 [T/C] rs1061508 1 184662181 [T/C] NM_025191 EDEM3 EXON Silent exm130626 1 184663288 [A/C] NM_025191 EDEM3 EXON Missense_W903L rs9425343 1 184663537 [A/C] NM_025191 EDEM3 EXON Missense_I820S exm130634 1 184663537 [A/C] NM_025191 EDEM3 EXON Missense_I820S exm130646 1 184672098 [A/G] NM_025191 EDEM3 EXON Missense_P746S variant.8890 1 184675810 [A/G] NM_025191 EDEM3 EXON Nonsense_Q724X rs3736757 1 184677464 [A/G] NM_025191 EDEM3 EXON Synonymous_I620I exm2273728 1 184680887 [A/T] NM_025191 EDEM3 EXON Missense_D554V exm1741102 1 184681571 [T/C] NM_025191 EDEM3 EXON Missense_N511S indel.8891 1 184681608 [I/D] NM_025191 EDEM3 EXON exm130697 1 184690424 [A/G] NM_025191 EDEM3 EXON Missense_T317I var_1_184692891 1 184692891 [A/G] NM_025191 EDEM3 EXON Nonsense_R283X exm130707 1 184695486 [T/C] NM_025191 EDEM3 EXON Missense_R217Q exm1741120 1 184703729 [T/C] NM_025191 EDEM3 EXON Missense_R132G rs861575 1 184725099 [T/C] rs35779894 1 184727100 [A/G] rs3895196 1 184728874 [T/G] rs861588 1 184738494 [A/G] rs861601 1 184745264 [A/G] rs861620 1 184757199 [T/C] rs570441 1 184760001 [T/C] 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 rs35543943 1 184764351 [A/G] NM_052966 FAM129A EXON Synonymous_D849D 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 newrs145159598 1 184765118 [A/G] NM_052966 FAM129A EXON Nonsense_Q594X exm130811 1 184772736 [T/C] NM_052966 FAM129A EXON Missense_A513T exm130815 1 184775133 [T/C] NM_052966 FAM129A EXON Missense_E465K rs338564 1 184777079 [A/G] NM_052966 FAM129A Silent exm130820 1 184777287 [T/C] NM_052966 FAM129A EXON Missense_R419H rs10797988 1 184783699 [T/C] NM_052966 FAM129A Silent indel.8907 1 184787785 [D/I] NM_052966 FAM129A EXON 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 rs567498 1 184793404 [A/G] NM_052966 FAM129A Silent exm130858 1 184801049 [T/C] NM_052966 FAM129A EXON Missense_V217M rs626576 1 184809353 [A/G] NM_052966 FAM129A Silent rs491291 1 184810895 [T/G] NM_052966 FAM129A Silent rs2840217 1 184825355 [T/C] NM_052966 FAM129A Silent rs234644 1 184833344 [A/G] NM_052966 FAM129A Silent rs234660 1 184852414 [A/G] NM_052966 FAM129A Silent 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 rs234670 1 184878307 [A/G] NM_052966 FAM129A Silent rs234683 1 184890756 [A/G] NM_052966 FAM129A Silent rs10911659 1 184905261 [T/C] NM_052966 FAM129A Silent rs7512071 1 184921581 [T/C] NM_052966 FAM129A Silent rs4651243 1 184922863 [A/G] NM_052966 FAM129A Silent rs234123 1 184928165 [T/C] NM_052966 FAM129A Silent rs234098 1 184937385 [T/C] NM_052966 FAM129A Silent rs170885 1 184941749 [A/G] NM_052966 FAM129A Silent exm130890 1 184943476 [G/C] NM_052966 FAM129A EXON Missense_A5P rs10911661 1 184962749 [A/G] rs12033761 1 184966133 [A/G] rs10797997 1 185009090 [T/C] rs2378957 1 185040065 [A/G] NM_007212 RNF2 Silent rs12038919 1 185041630 [A/G] NM_007212 RNF2 Silent indel.8913 1 185067286 [I/D] NM_007212 RNF2 EXON exm130906 1 185069416 [A/G] NM_007212 RNF2 EXON Missense_T332A exm2273343 1 185069561 [A/G] NM_007212 RNF2 EXON Silent rs10911676 1 185071831 [T/C] variant.8915 1 185089177 [A/C] NM_030934,NM_001202423 TRMT1L,TRMT1L EXON Nonsense_E726X,Nonsense_E570X exm130908 1 185089203 [A/G] NM_030934,NM_001202423 TRMT1L,TRMT1L EXON Missense_V717A,Missense_V561A exm130919 1 185094084 [T/C] NM_030934,NM_001202423 TRMT1L,TRMT1L EXON Missense_N584S,Missense_N428S indel.8917 1 185106781 [D/I] NM_030934,NM_001202423 TRMT1L,TRMT1L EXON exm130935 1 185109202 [T/C] NM_030934,NM_001202423 TRMT1L,TRMT1L EXON Missense_D338N,Missense_D182N exm130940 1 185109327 [A/T] NM_030934,NM_001202423 TRMT1L,TRMT1L EXON Missense_H296L,Missense_H140L exm130947 1 185113120 [C/G] NM_030934,NM_001202423 TRMT1L,TRMT1L EXON Missense_D233H,Missense_D77H exm130948 1 185113152 [A/G] NM_030934,NM_001202423 TRMT1L,TRMT1L EXON Missense_A222V,Missense_A66V rs6684586 1 185114837 [A/G] NM_030934,NM_001202423 TRMT1L,TRMT1L Silent,Silent exm130960 1 185119609 [A/C] NM_030934,NM_001202423 TRMT1L,TRMT1L EXON Missense_C121F,Silent rs10737256 1 185123630 [T/C] NM_030934,NM_001202423 TRMT1L,TRMT1L Silent,Silent exm130966 1 185125619 [A/C] NM_030934,NM_001202423 TRMT1L,TRMT1L EXON Missense_A76S,Silent exm130968 1 185125633 [G/C] NM_030934,NM_001202423 TRMT1L,TRMT1L EXON Missense_S71C,Silent 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 rs10489579 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 variant.8919 1 185149565 [T/C] NM_001105518,NM_017673 SWT1,SWT1 EXON Nonsense_Q337X,Nonsense_Q337X 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 rs10798000 1 185157131 [A/C] NM_001105518,NM_017673 SWT1,SWT1 Silent,Silent 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 rs7543962 1 185176395 [A/G] NM_001105518,NM_017673 SWT1,SWT1 Silent,Silent rs7533198 1 185178151 [A/G] NM_001105518,NM_017673 SWT1,SWT1 Silent,Silent rs6666742 1 185227886 [A/G] NM_001105518,NM_017673 SWT1,SWT1 Silent,Silent exm131091 1 185240474 [A/G] NM_001105518,NM_017673 SWT1,SWT1 EXON Missense_N821D,Missense_N821D indel.8921 1 185259897 [I/D] NM_001105518,NM_017673 SWT1,SWT1 EXON rs10798004 1 185265149 [A/G] exm131105 1 185267193 [T/G] NM_006469 IVNS1ABP EXON Missense_P635T exm131107 1 185267208 [A/G] NM_006469 IVNS1ABP EXON Missense_S630P variant.8922 1 185268869 [A/G] NM_006469 IVNS1ABP EXON Nonsense_R550X 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 newrs138853956 1 185276740 [A/G] NM_006469 IVNS1ABP EXON Nonsense_R138X exm131156 1 185278287 [T/C] NM_006469 IVNS1ABP EXON Missense_M43I rs726567 1 185295754 [A/G] NR_038424 LOC100288079 Silent rs11803823 1 185298185 [T/G] NR_038424 LOC100288079 Silent rs6424976 1 185317357 [T/C] rs6689206 1 185325547 [T/G] rs2224027 1 185328658 [T/C] rs1074229 1 185331197 [A/G] rs10489486 1 185338550 [A/C] rs10911713 1 185347488 [T/C] exm2268795 1 185364104 [T/C] rs2144291 1 185371940 [A/G] rs10737261 1 185394176 [A/G] rs10798014 1 185394834 [A/G] rs10911725 1 185395182 [A/G] rs4651260 1 185416257 [A/G] rs7519702 1 185422346 [A/C] rs10911734 1 185422424 [T/C] rs7416136 1 185439258 [A/C] rs12128031 1 185453884 [A/G] rs232298 1 185455790 [T/C] rs6696736 1 185472032 [A/G] rs12063048 1 185484309 [A/C] exm2263865 1 185484309 [A/C] rs6670762 1 185489752 [T/C] rs1407277 1 185500084 [A/G] rs2174296 1 185511423 [A/G] rs1321996 1 185515461 [A/G] rs10798019 1 185522687 [A/C] rs1321999 1 185524918 [A/G] rs11605 1 185527738 [T/C] rs556035 1 185533785 [T/C] rs333724 1 185545130 [T/G] rs567021 1 185554904 [T/C] rs971224 1 185571933 [A/G] rs1073470 1 185588484 [T/G] rs12089482 1 185597494 [T/G] rs1321991 1 185625971 [A/G] rs10489711 1 185644663 [T/C] rs1961519 1 185646286 [A/G] rs4651286 1 185675592 [T/C] rs900775 1 185689139 [T/C] exm131164 1 185703987 [T/C] NM_031935 HMCN1 EXON Missense_P26S rs4651287 1 185716964 [A/C] NM_031935 HMCN1 Silent rs10489713 1 185724616 [T/C] NM_031935 HMCN1 Silent rs6696804 1 185742967 [T/C] NM_031935 HMCN1 Silent rs1407428 1 185755609 [A/C] NM_031935 HMCN1 Silent rs6676629 1 185774781 [A/C] NM_031935 HMCN1 Silent rs4651288 1 185794315 [T/G] NM_031935 HMCN1 Silent rs7556537 1 185833565 [A/C] NM_031935 HMCN1 Silent exm131177 1 185833699 [A/G] NM_031935 HMCN1 EXON Missense_R146Q newrs149911074 1 185833761 [A/G] NM_031935 HMCN1 Silent exm131182 1 185834976 [A/G] NM_031935 HMCN1 EXON Missense_D201G rs6698721 1 185849364 [A/G] NM_031935 HMCN1 Silent rs12078444 1 185855289 [T/C] NM_031935 HMCN1 Silent rs16824658 1 185864512 [A/G] NM_031935 HMCN1 Silent exm131185 1 185878545 [T/C] NM_031935 HMCN1 EXON Missense_V233A exm131189 1 185878632 [A/G] NM_031935 HMCN1 EXON Missense_N262S variant.8927 1 185880917 [A/G] NM_031935 HMCN1 Silent exm2259892 1 185886151 [A/G] NM_031935 HMCN1 Silent exm131200 1 185891569 [A/G] NM_031935 HMCN1 EXON Missense_R320Q variant.8928 1 185891583 [T/C] NM_031935 HMCN1 EXON Nonsense_R325X exm131201 1 185891584 [A/G] NM_031935 HMCN1 EXON Missense_R325Q indel.8929 1 185891611 [I/D] NM_031935 HMCN1 EXON 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 indel.8936 1 185970497 [I/D] NM_031935 HMCN1 EXON 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 variant.8937 1 185972976 [A/G] NM_031935 HMCN1 EXON Missense_K1492R 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 rs10911798 1 185987152 [A/G] NM_031935 HMCN1 Silent 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 rs4141459 1 185995616 [T/C] NM_031935 HMCN1 Silent 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 variant.8940 1 186014837 [T/G] NM_031935 HMCN1 EXON Nonsense_G2108X exm131430 1 186014876 [A/G] NM_031935 HMCN1 EXON Missense_V2121M exm131435 1 186017905 [T/C] NM_031935 HMCN1 EXON Missense_R2171C variant.8941 1 186022986 [T/C] NM_031935 HMCN1 EXON Nonsense_R2244X 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 variant.8944 1 186038794 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 Silent,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 variant.8945 1 186047352 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_V2867M,Silent rs10798035 1 186050417 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_E2893G,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 variant.8947 1 186055544 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 Silent,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 variant.8949 1 186057408 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_E3193K,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 variant.8951 1 186060001 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Nonsense_W3280X,Silent variant.8952 1 186060050 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 Silent,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 newrs142687515 1 186072756 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Nonsense_Q3576X,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 var_1_186077734 1 186077734 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 Silent,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 newrs150673369 1 186084057 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Nonsense_R3795X,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 rs6673390 1 186097908 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 Silent,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 variant.8959 1 186099234 [T/G] NM_031935,NR_031642 HMCN1,MIR548F1 Silent,Silent variant.8960 1 186099237 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 Silent,Silent exm131754 1 186099654 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_K4352R,Silent rs10911825 1 186101539 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_Q4437R,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 rs6693069 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 rs1322376 1 186120139 [T/G] NM_031935,NR_031642 HMCN1,MIR548F1 Silent,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 rs7545010 1 186126099 [A/G] NM_031935,NR_031642 HMCN1,MIR548F1 Silent,Silent rs2208692 1 186133290 [A/C] NM_031935,NR_031642 HMCN1,MIR548F1 Silent,Silent exm131854 1 186134246 [T/A] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Missense_D5087V,Silent exm2250376 1 186135389 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Synonymous_S5131S,Silent exm131856 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 rs2383457 1 186136572 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 Silent,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 variant.8963 1 186140587 [T/G] NM_031935,NR_031642 HMCN1,MIR548F1 Silent,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 rs10911836 1 186149235 [T/C] NM_031935,NR_031642 HMCN1,MIR548F1 Silent,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 variant.8967 1 186158957 [T/G] NM_031935,NR_031642 HMCN1,MIR548F1 EXON Nonsense_E5619X,Silent rs857753 1 186168281 [T/C] NR_031642 MIR548F1 Silent rs6666859 1 186182156 [T/C] NR_031642 MIR548F1 Silent rs6676055 1 186190163 [T/C] NR_031642 MIR548F1 Silent rs585738 1 186199641 [A/G] NR_031642,NR_046941 MIR548F1,RNU6-72 Silent,Silent rs639524 1 186225257 [A/G] NR_031642,NR_046941 MIR548F1,RNU6-72 Silent,Silent rs1285115 1 186237510 [T/C] NR_031642,NR_046941 MIR548F1,RNU6-72 Silent,Silent rs1795022 1 186247924 [A/G] NR_031642,NR_046941 MIR548F1,RNU6-72 Silent,Silent exm2250377 1 186257518 [T/G] NR_031642,NR_046941 MIR548F1,RNU6-72 Silent,Silent rs1293970 1 186258229 [A/G] NR_031642,NR_046941 MIR548F1,RNU6-72 Silent,Silent exm131936 1 186266014 [T/C] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 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_001127708,NM_005807,NM_001127710 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_001127708,NM_005807,NM_001127710 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_001127708,NM_005807,NM_001127710 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_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Silent,Missense_R139W,Missense_R180W,Silent rs2273779 1 186273994 [T/C] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Silent,Missense_R139W,Missense_R180W,Silent exm131965 1 186273995 [A/G] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Silent,Missense_R139Q,Missense_R180Q,Silent exm131973 1 186275510 [A/C] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_D127A,Missense_D179A,Missense_D220A,Missense_D86A exm131976 1 186275564 [T/C] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_T145M,Missense_T197M,Missense_T238M,Missense_T104M exm131983 1 186275744 [A/C] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_T205N,Missense_T257N,Missense_T298N,Missense_T164N indel.8973 1 186275833 [I/D] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON exm131987 1 186275857 [A/G] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_E243K,Missense_E295K,Missense_E336K,Missense_E202K exm132080 1 186276895 [T/C] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_P589S,Missense_P641S,Missense_P682S,Missense_P548S exm132091 1 186277088 [G/C] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_C653S,Missense_C705S,Missense_C746S,Missense_C612S exm132092 1 186277099 [A/G] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_A657T,Missense_A709T,Missense_A750T,Missense_A616T exm132104 1 186277313 [T/C] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_T728I,Missense_T780I,Missense_T821I,Missense_T687I exm132114 1 186277568 [T/C] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_A813V,Missense_A865V,Missense_A906V,Missense_A772V exm132118 1 186277625 [A/G] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_R832H,Missense_R884H,Missense_R925H,Missense_R791H indel.8977 1 186277656 [I/D] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON exm1742059 1 186277811 [T/C] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_T894I,Missense_T946I,Missense_T987I,Missense_T853I indel.8978 1 186277879 [I/D] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON exm132130 1 186278008 [T/C] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_R960C,Missense_R1012C,Missense_R1053C,Missense_R919C exm132141 1 186278212 [A/G] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_D1028N,Missense_D1080N,Missense_D1121N,Missense_D987N exm132142 1 186278219 [A/C] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_D1030A,Missense_D1082A,Missense_D1123A,Missense_D989A exm132146 1 186278240 [A/G] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_N1037S,Missense_N1089S,Missense_N1130S,Missense_N996S 1KG_1_186278960 1 186278960 [D/I] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON exm132155 1 186280235 [A/G] NR_031642,NR_046941,NM_001127709,NM_001127708,NM_005807,NM_001127710 MIR548F1,RNU6-72,PRG4,PRG4,PRG4,PRG4 EXON Silent,Silent,Missense_G1097D,Missense_G1149D,Missense_G1190D,Missense_G1056D exm132160 1 186281328 [T/C] NR_031642,NM_001127709,NM_001127708,NM_005807,NM_001127710,NM_003292 MIR548F1,PRG4,PRG4,PRG4,PRG4,TPR EXON Silent,Missense_I1179T,Missense_I1231T,Missense_I1272T,Missense_I1138T,Silent exm132163 1 186281400 [T/C] NR_031642,NM_001127709,NM_001127708,NM_005807,NM_001127710,NM_003292 MIR548F1,PRG4,PRG4,PRG4,PRG4,TPR EXON Silent,Missense_T1203M,Missense_T1255M,Missense_T1296M,Missense_T1162M,Silent exm132164 1 186281429 [T/C] NR_031642,NM_001127709,NM_001127708,NM_005807,NM_001127710,NM_003292 MIR548F1,PRG4,PRG4,PRG4,PRG4,TPR EXON Silent,Missense_R1213C,Missense_R1265C,Missense_R1306C,Missense_R1172C,Silent exm132167 1 186281477 [T/C] NR_031642,NM_001127709,NM_001127708,NM_005807,NM_001127710,NM_003292 MIR548F1,PRG4,PRG4,PRG4,PRG4,TPR EXON Silent,Missense_P1229S,Missense_P1281S,Missense_P1322S,Missense_P1188S,Silent newrs150684195 1 186281504 [A/G] NR_031642,NM_001127709,NM_001127708,NM_005807,NM_001127710,NM_003292 MIR548F1,PRG4,PRG4,PRG4,PRG4,TPR EXON Silent,Missense_G1238S,Missense_G1290S,Missense_G1331S,Missense_G1197S,Silent rs7756 1 186281696 [T/G] NR_031642,NM_001127709,NM_001127708,NM_005807,NM_001127710,NM_003292 MIR548F1,PRG4,PRG4,PRG4,PRG4,TPR EXON Silent,Silent,Silent,Silent,Silent,Silent exm132178 1 186282840 [A/G] NR_031642,NM_001127709,NM_001127708,NM_005807,NM_001127710,NM_003292 MIR548F1,PRG4,PRG4,PRG4,PRG4,TPR EXON Silent,Missense_S1289N,Missense_S1341N,Missense_S1382N,Missense_S1248N,Silent exm132198 1 186289510 [A/G] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_P2168S variant.8983 1 186301322 [T/C] NR_031642,NM_003292 MIR548F1,TPR Silent,Silent 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 variant.8986 1 186326529 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_K575R 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 rs10494586 1 186330643 [T/C] NR_031642,NM_003292 MIR548F1,TPR Silent,Silent 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 variant.8989 1 186340102 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Synonymous_Q110Q exm132394 1 186340119 [A/G] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_R105C var_1_186342491 1 186342491 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_N86D exm2232075 1 186342527 [T/C] NR_031642,NM_003292 MIR548F1,TPR EXON Silent,Missense_E74K rs2297226 1 186343759 [A/G] NR_031642,NM_003292 MIR548F1,TPR Silent,Silent 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_001164246,NM_001164245 MIR548F1,C1orf27,C1orf27,C1orf27 EXON Silent,Missense_K50R,Missense_K50R,Missense_K50R exm132416 1 186355168 [A/G] NR_031642,NM_017847,NM_001164246,NM_001164245 MIR548F1,C1orf27,C1orf27,C1orf27 EXON Silent,Missense_I95V,Silent,Missense_I95V exm132421 1 186359924 [A/G] NR_031642,NM_017847,NM_001164246,NM_001164245 MIR548F1,C1orf27,C1orf27,C1orf27 EXON Silent,Missense_N186D,Missense_N154D,Missense_N186D exm132431 1 186363119 [G/C] NR_031642,NM_017847,NM_001164246,NM_001164245 MIR548F1,C1orf27,C1orf27,C1orf27 EXON Silent,Missense_S251C,Missense_S219C,Silent variant.8992 1 186363152 [A/G] NR_031642,NM_017847,NM_001164246,NM_001164245 MIR548F1,C1orf27,C1orf27,C1orf27 Silent,Silent,Silent,Silent exm132443 1 186368092 [A/C] NR_031642,NM_017847,NM_001164246,NM_001164245 MIR548F1,C1orf27,C1orf27,C1orf27 EXON Silent,Missense_K306Q,Missense_K274Q,Missense_K283Q variant.8993 1 186370197 [T/G] NR_031642,NM_017847,NM_001164246,NM_001164245,NM_022375 MIR548F1,C1orf27,C1orf27,C1orf27,OCLM EXON Silent,Silent,Silent,Silent,Nonsense_L7X exm132448 1 186370281 [C/G] NR_031642,NM_017847,NM_001164246,NM_001164245,NM_022375 MIR548F1,C1orf27,C1orf27,C1orf27,OCLM EXON Silent,Silent,Silent,Silent,Missense_S35C exm132450 1 186375235 [A/G] NR_031642,NM_017847,NM_001164246,NM_001164245 MIR548F1,C1orf27,C1orf27,C1orf27 EXON Silent,Missense_V341I,Missense_V309I,Missense_V318I exm132455 1 186375305 [A/G] NR_031642,NM_017847,NM_001164246,NM_001164245 MIR548F1,C1orf27,C1orf27,C1orf27 EXON Silent,Missense_D364G,Missense_D332G,Missense_D341G exm132457 1 186375340 [A/G] NR_031642,NM_017847,NM_001164246,NM_001164245 MIR548F1,C1orf27,C1orf27,C1orf27 EXON Silent,Missense_E376K,Missense_E344K,Missense_E353K rs6665157 1 186379265 [A/G] NR_031642,NM_017847,NM_001164246,NM_001164245 MIR548F1,C1orf27,C1orf27,C1orf27 Silent,Silent,Silent,Silent rs7547924 1 186380442 [A/G] NR_031642,NM_017847,NM_001164246,NM_001164245 MIR548F1,C1orf27,C1orf27,C1orf27 Silent,Silent,Silent,Silent variant.8995 1 186413185 [A/C] NR_031642,NM_022576,NM_002597 MIR548F1,PDC,PDC EXON Silent,Nonsense_E171X,Nonsense_E223X variant.8996 1 186413221 [A/C] NR_031642,NM_022576,NM_002597 MIR548F1,PDC,PDC EXON Silent,Nonsense_E159X,Nonsense_E211X indel.8997 1 186413270 [I/D] NR_031642,NM_022576,NM_002597 MIR548F1,PDC,PDC EXON exm132491 1 186415571 [T/C] NR_031642,NM_022576,NM_002597 MIR548F1,PDC,PDC EXON Silent,Missense_R15Q,Missense_R67Q rs12407957 1 186418600 [T/C] NR_031642,NM_002597 MIR548F1,PDC EXON Silent,Silent rs11801527 1 186418798 [A/G] NR_031642,NM_002597 MIR548F1,PDC Silent,Silent rs3131557 1 186441585 [T/G] NR_031642 MIR548F1 Silent rs12062743 1 186447591 [T/C] rs3901950 1 186467274 [T/C] rs12072014 1 186474889 [T/C] rs3863719 1 186483596 [T/G] rs7550953 1 186509790 [A/G] rs7542810 1 186532231 [A/G] rs4651315 1 186557453 [A/G] rs6658482 1 186598526 [T/C] rs7514491 1 186599018 [T/C] rs2383513 1 186599524 [T/C] rs10489398 1 186599542 [A/G] rs10911898 1 186612593 [T/G] exm-rs10911902 1 186632317 [T/C] rs689470 1 186641058 [A/G] NM_000963 PTGS2 EXON Silent rs5275 1 186643058 [A/G] NM_000963 PTGS2 EXON Silent 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 variant.9000 1 186648454 [A/G] NM_000963 PTGS2 EXON Missense_P57S rs12064238 1 186659125 [T/C] rs964570 1 186684977 [T/C] rs6685280 1 186685818 [A/C] rs4650701 1 186704555 [A/G] exm-rs4140564 1 186725003 [A/G] rs10752974 1 186744874 [T/C] rs16825875 1 186745922 [A/G] rs10489402 1 186746556 [A/C] rs7554410 1 186767992 [T/G] rs926324 1 186784505 [A/G] rs6685652 1 186831728 [A/C] NM_024420 PLA2G4A Silent variant.9001 1 186839648 [A/C] NM_024420 PLA2G4A EXON Missense_L39I rs2223307 1 186844926 [T/C] NM_024420 PLA2G4A Silent rs2049963 1 186851216 [A/G] NM_024420 PLA2G4A Silent rs16826060 1 186855555 [T/C] NM_024420 PLA2G4A Silent exm132573 1 186863287 [A/T] NM_024420 PLA2G4A EXON Missense_T108S exm132574 1 186863320 [A/G] NM_024420 PLA2G4A EXON Missense_E119K rs10911952 1 186868740 [T/C] NM_024420 PLA2G4A Silent rs10798069 1 186875459 [T/G] NM_024420 PLA2G4A Silent rs6686848 1 186887107 [A/C] NM_024420 PLA2G4A Silent rs12726519 1 186898065 [T/C] NM_024420 PLA2G4A Silent rs6697145 1 186910591 [T/C] NM_024420 PLA2G4A Silent variant.9003 1 186916098 [T/C] NM_024420 PLA2G4A Silent rs10489409 1 186920114 [T/C] NM_024420 PLA2G4A Silent 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 rs12353944 1 186941897 [T/C] NM_024420 PLA2G4A Silent 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 rs10489410 1 186954195 [T/G] NM_024420 PLA2G4A Silent rs761517 1 186961387 [A/G] rs2144000 1 186967242 [A/G] rs10798078 1 186967702 [A/G] rs10752993 1 186981339 [T/C] rs12735309 1 186984283 [T/C] exm2268797 1 186985141 [T/C] rs1884022 1 187002419 [A/C] rs7540422 1 187005310 [A/G] rs12566615 1 187007181 [T/C] rs1160832 1 187013915 [A/C] rs12569046 1 187032137 [T/C] rs1297671 1 187033639 [T/C] rs10911992 1 187039464 [T/C] rs1297676 1 187041011 [T/C] rs7511950 1 187055561 [A/G] rs10911997 1 187057636 [A/C] rs230629 1 187073950 [T/G] rs2383574 1 187081199 [A/G] rs230619 1 187082330 [T/G] rs1924736 1 187092482 [A/G] rs12047450 1 187095959 [A/C] rs391391 1 187097401 [A/G] rs12065268 1 187114753 [T/C] rs7545246 1 187131218 [T/G] rs4650720 1 187133540 [T/C] rs12133085 1 187135612 [A/C] rs1924724 1 187154470 [T/C] rs10494592 1 187158604 [T/G] rs2209363 1 187163851 [T/C] rs2025513 1 187173215 [A/C] rs330708 1 187183135 [A/G] rs330725 1 187208014 [T/C] rs330723 1 187223137 [T/C] rs7547443 1 187229039 [T/C] rs170708 1 187239805 [A/G] rs16826609 1 187245487 [A/G] rs2453727 1 187247150 [T/C] rs6658044 1 187258353 [T/G] rs4144116 1 187267411 [A/G] rs12027998 1 187268646 [A/G] exm2265065 1 187278646 [A/G] rs1553000 1 187278646 [A/G] rs1874414 1 187279324 [T/C] rs10798106 1 187309604 [A/C] rs16826764 1 187310570 [A/G] rs1148759 1 187312447 [A/C] rs2800913 1 187326714 [A/C] rs2802475 1 187327396 [A/G] rs2802474 1 187328545 [A/G] rs10912054 1 187329185 [T/C] rs1285513 1 187333447 [T/C] rs12033946 1 187348438 [T/G] rs10912059 1 187354887 [A/G] rs10798107 1 187362785 [T/C] rs4651374 1 187363621 [A/G] rs4650729 1 187379326 [A/G] rs4651378 1 187384477 [T/C] rs12145400 1 187386201 [A/G] rs12121531 1 187397003 [A/G] rs6696686 1 187397277 [A/G] rs1938515 1 187402854 [A/G] rs2490407 1 187406532 [T/C] rs2490327 1 187416536 [A/G] rs4651384 1 187418404 [A/G] rs1938512 1 187422872 [A/C] rs12137534 1 187428231 [A/G] rs2249521 1 187435132 [T/C] rs10753005 1 187443751 [A/G] rs2891279 1 187446839 [A/G] rs7554573 1 187461719 [T/C] exm2268798 1 187483206 [T/C] rs4593773 1 187483206 [T/C] rs7535036 1 187492543 [A/G] rs1361298 1 187498538 [T/C] rs1416476 1 187500338 [T/C] rs10798116 1 187501925 [T/C] rs2891285 1 187522674 [T/C] rs17544558 1 187530283 [A/C] rs2802752 1 187531473 [A/G] rs2789391 1 187533898 [T/C] rs1572725 1 187537208 [A/G] rs7539308 1 187552208 [A/G] rs12127474 1 187557096 [T/C] rs1578097 1 187565339 [T/C] rs2383658 1 187581303 [A/G] rs11809135 1 187584447 [T/C] rs1106962 1 187595914 [A/C] rs10798126 1 187601186 [A/G] rs12058310 1 187602253 [T/G] rs6686651 1 187607223 [A/G] rs955835 1 187609850 [T/C] rs2066081 1 187615141 [A/G] rs10912115 1 187623942 [A/G] rs12749748 1 187623971 [T/C] rs10494603 1 187630186 [T/G] rs10912140 1 187647751 [A/G] rs2891292 1 187652296 [T/C] rs2050741 1 187669092 [T/G] exm-rs3120970 1 187675285 [A/G] rs1538478 1 187676040 [A/C] rs6685655 1 187677162 [A/G] rs11800915 1 187684427 [T/G] rs10912148 1 187687844 [T/C] rs4233131 1 187693731 [A/C] rs10798137 1 187699152 [T/C] rs4622024 1 187703817 [T/C] rs10912155 1 187704353 [T/C] rs10912160 1 187711717 [A/G] rs4418543 1 187715194 [T/C] rs7546941 1 187725317 [A/G] rs2495445 1 187732601 [A/C] rs1158512 1 187744623 [T/C] rs967778 1 187748399 [T/C] rs967776 1 187748759 [T/C] rs10912174 1 187749447 [T/C] rs6664686 1 187757027 [T/C] rs2430096 1 187763860 [T/G] rs10798148 1 187779509 [T/C] rs2495474 1 187813938 [T/G] rs2495469 1 187817247 [A/G] rs2430144 1 187823537 [A/G] rs10489379 1 187832346 [T/C] rs2430132 1 187834475 [A/G] rs2430130 1 187840501 [T/C] rs10798153 1 187852822 [A/G] rs800805 1 187859825 [T/C] rs800801 1 187862656 [T/C] rs2311063 1 187870452 [A/G] rs11591211 1 187872751 [T/G] rs776798 1 187888876 [A/G] rs776797 1 187888914 [A/G] rs655167 1 187902981 [A/G] rs1572508 1 187912763 [A/G] rs4650748 1 187920237 [A/G] rs12733186 1 187934869 [T/C] rs10912216 1 187946548 [A/G] rs12564137 1 187950418 [T/G] rs7543364 1 187967161 [A/C] rs10912219 1 187976838 [T/C] rs613118 1 187988077 [A/G] rs11801907 1 187992993 [A/G] rs12137769 1 188018355 [A/C] kgp3831162 1 188019061 [A/G] rs1432427 1 188023515 [T/C] exm2264933 1 188071966 [A/G] rs10489764 1 188085833 [T/C] rs7546596 1 188086156 [T/C] rs12137000 1 188099917 [T/G] rs12042467 1 188103345 [T/C] rs12048287 1 188114531 [T/C] rs354246 1 188124227 [T/G] rs1032215 1 188124446 [A/C] rs7542386 1 188124666 [A/G] rs354266 1 188130196 [T/G] rs12140392 1 188154257 [A/C] rs1487492 1 188162030 [A/G] rs1906255 1 188172047 [A/G] rs12044617 1 188172757 [A/G] rs1825798 1 188190768 [T/C] rs1994423 1 188215107 [T/C] rs3010654 1 188248649 [T/C] rs1386560 1 188250062 [T/C] rs1487489 1 188250810 [T/C] rs12030453 1 188267144 [A/C] rs2067988 1 188273214 [T/C] exm2268959 1 188275062 [T/C] rs4463623 1 188300868 [T/C] rs1489256 1 188324516 [A/G] rs1387343 1 188328650 [T/C] rs12036328 1 188338756 [A/G] rs12125250 1 188379428 [A/C] rs10798210 1 188384464 [T/C] rs10912385 1 188413159 [T/G] rs9988491 1 188423382 [A/G] rs12091277 1 188440351 [A/G] rs10912414 1 188455409 [T/C] rs1489267 1 188456430 [A/G] rs6656158 1 188458988 [T/C] rs284077 1 188465943 [T/C] rs2220034 1 188467273 [A/G] rs12038869 1 188469106 [T/C] rs284113 1 188477749 [T/G] rs284131 1 188484287 [A/C] rs12732082 1 188485563 [A/G] rs10494614 1 188532630 [T/C] rs1609772 1 188553599 [A/C] rs2312286 1 188561149 [T/C] rs10798231 1 188562024 [A/G] rs12082345 1 188620700 [T/C] rs12033740 1 188624613 [A/G] rs2312283 1 188629757 [A/G] rs7539920 1 188650160 [T/C] rs1902895 1 188664093 [A/G] rs7546736 1 188665662 [T/C] rs6665576 1 188694491 [A/C] rs12758150 1 188700069 [T/C] rs12134565 1 188705079 [A/G] rs10754227 1 188735336 [T/G] rs6670462 1 188736617 [A/G] rs4439360 1 188751380 [T/G] exm2268799 1 188755011 [T/C] rs4417067 1 188761359 [A/G] rs4551597 1 188764543 [T/C] rs7519600 1 188793472 [A/G] rs16829440 1 188826462 [T/C] exm2268960 1 188835473 [T/G] rs1031191 1 188835473 [T/G] rs16829456 1 188836200 [A/G] rs7548521 1 188844768 [T/C] rs6660722 1 188862962 [A/G] rs16829527 1 188870483 [A/G] rs6428035 1 188884571 [A/G] rs7355001 1 188887177 [A/G] kgp6532737 1 188888226 [A/G] kgp15655593 1 188888360 [A/G] rs10920995 1 188946679 [T/C] rs7550535 1 188983626 [T/C] rs2861427 1 188984321 [T/G] rs12738395 1 188993946 [T/C] rs1912920 1 189012899 [A/C] exm2268800 1 189022599 [T/G] rs4388707 1 189034234 [A/G] rs10921204 1 189036365 [T/C] rs1912915 1 189045079 [T/C] rs7518946 1 189069537 [A/G] rs1912937 1 189100707 [A/C] rs10921341 1 189112184 [A/G] rs1912933 1 189123194 [A/G] rs7515205 1 189128124 [A/G] rs1891457 1 189159261 [A/G] rs7527682 1 189172684 [A/G] rs11801708 1 189187918 [T/G] rs10458404 1 189188538 [T/C] rs6694860 1 189189282 [A/C] rs10921627 1 189238665 [A/G] rs12135892 1 189276962 [T/C] rs1361011 1 189282802 [A/G] rs10921762 1 189284520 [A/G] rs6678596 1 189286113 [A/C] rs12747712 1 189301911 [T/C] rs16830499 1 189350700 [T/C] rs1148606 1 189389416 [T/C] rs10754190 1 189428501 [T/C] rs816812 1 189435354 [T/C] rs3860306 1 189437182 [T/C] rs7537185 1 189496667 [A/G] rs269743 1 189503853 [A/G] rs12071479 1 189512884 [T/C] rs1393495 1 189523135 [A/G] rs367510 1 189527897 [A/C] rs269747 1 189542729 [A/G] rs421604 1 189548411 [T/C] rs445857 1 189552579 [A/G] exm2264934 1 189552579 [A/G] exm2265066 1 189574444 [A/G] rs7532675 1 189587034 [T/C] rs10489759 1 189589339 [T/C] rs6672054 1 189602917 [T/C] exm-rs532905 1 189620278 [T/C] rs473773 1 189627183 [T/C] rs480025 1 189630723 [T/C] rs479137 1 189653244 [A/G] rs485028 1 189667459 [T/C] rs2902583 1 189678231 [T/G] exm-rs10737562 1 189723623 [A/G] rs11586173 1 189755774 [A/G] rs4845149 1 189772005 [T/G] rs10919787 1 189775505 [A/G] rs2418511 1 189779629 [T/G] rs9427700 1 189781569 [A/G] rs2039776 1 189785489 [A/G] rs10737568 1 189790108 [A/G] rs12138327 1 189791316 [T/C] rs2176360 1 189816957 [T/C] rs12062955 1 189836689 [T/G] rs6693137 1 189846139 [T/C] rs12402777 1 189855850 [A/G] rs7539739 1 189865412 [A/G] rs10920093 1 189878303 [A/C] rs6413913 1 189878594 [A/G] rs1852906 1 189883637 [T/C] rs11810898 1 189890002 [A/G] rs2699385 1 189916279 [T/C] rs815742 1 189918985 [A/C] rs860107 1 189922408 [T/C] exm2264935 1 189924896 [A/G] rs1341976 1 189931733 [T/C] rs16829304 1 189958783 [A/G] rs1730734 1 189958874 [T/C] rs1320748 1 189960204 [A/G] rs845629 1 189962502 [A/G] rs1529315 1 189973857 [A/G] rs10737578 1 189983720 [T/C] rs10800809 1 189984428 [A/C] rs1534745 1 190005340 [T/C] rs6427944 1 190010100 [T/C] rs17374565 1 190010245 [T/C] rs2037871 1 190020770 [T/C] rs10920424 1 190036140 [T/C] rs10920441 1 190042706 [T/C] rs4585977 1 190050376 [T/C] rs7536465 1 190056706 [A/G] rs1418811 1 190064165 [T/G] exm-rs1935881 1 190066386 [T/C] exm132653 1 190067458 [T/C] NM_199051 FAM5C EXON Missense_N664S rs6427982 1 190073382 [A/G] NM_199051 FAM5C Silent rs10920547 1 190080733 [A/G] NM_199051 FAM5C Silent rs2226167 1 190086179 [A/G] NM_199051 FAM5C Silent exm2265067 1 190088325 [A/G] NM_199051 FAM5C Silent rs2211430 1 190099810 [A/G] NM_199051 FAM5C Silent rs10753936 1 190102031 [T/C] NM_199051 FAM5C Silent rs1418808 1 190104227 [T/C] NM_199051 FAM5C Silent rs1557188 1 190117274 [T/C] NM_199051 FAM5C Silent exm132685 1 190129925 [A/G] NM_199051 FAM5C EXON Missense_R353C rs10920654 1 190131750 [T/C] NM_199051 FAM5C Silent rs12041138 1 190149198 [A/G] NM_199051 FAM5C Silent rs2253618 1 190150037 [T/C] NM_199051 FAM5C Silent rs815343 1 190155633 [T/C] NM_199051 FAM5C Silent exm132690 1 190195413 [A/G] NM_199051 FAM5C EXON Missense_R254C rs4399162 1 190201724 [A/G] NM_199051 FAM5C Silent exm132696 1 190234086 [A/G] NM_199051 FAM5C EXON Missense_T176M rs10920679 1 190239919 [A/G] NM_199051 FAM5C Silent variant.9005 1 190250685 [T/C] NM_199051 FAM5C Silent exm132702 1 190250788 [T/C] NM_199051 FAM5C EXON Missense_N110S rs1093040 1 190263214 [A/G] NM_199051 FAM5C Silent rs655598 1 190287713 [A/G] NM_199051 FAM5C Silent rs652953 1 190288297 [T/C] NM_199051 FAM5C Silent rs1148612 1 190337198 [T/C] NM_199051 FAM5C Silent rs1031076 1 190362935 [A/C] NM_199051 FAM5C Silent rs12065497 1 190385136 [A/G] NM_199051 FAM5C Silent rs17377527 1 190394746 [A/G] NM_199051 FAM5C Silent rs12091129 1 190406331 [T/C] NM_199051 FAM5C Silent rs12087474 1 190416298 [A/G] NM_199051 FAM5C Silent rs1171024 1 190418961 [T/C] NM_199051 FAM5C Silent exm132716 1 190424003 [T/G] NM_199051 FAM5C EXON Missense_R6S variant.9006 1 190424012 [T/C] NM_199051 FAM5C EXON Nonsense_W3X rs12058205 1 190424966 [A/G] NM_199051 FAM5C Silent rs12034237 1 190455544 [T/C] rs814941 1 190466822 [A/G] rs703931 1 190467826 [T/C] rs10920731 1 190472727 [A/G] rs12405769 1 190476831 [A/C] rs814923 1 190485500 [T/C] rs814914 1 190492280 [A/G] rs814913 1 190492543 [T/G] rs17378706 1 190494536 [A/C] rs6428021 1 190497340 [A/C] rs7541423 1 190501742 [T/C] rs814968 1 190506603 [A/C] rs814958 1 190514183 [T/C] rs12036325 1 190533202 [A/G] rs1327872 1 190533700 [A/G] rs11582878 1 190546931 [A/G] exm2264936 1 190551418 [A/G] rs49314 1 190558106 [T/C] rs749390 1 190560021 [T/C] rs694168 1 190566014 [A/G] rs2149028 1 190570848 [A/C] rs7531899 1 190581372 [A/G] rs694698 1 190583153 [T/C] rs604813 1 190596095 [T/C] NR_033922 LOC440704 Silent rs12079787 1 190604337 [A/G] NR_033922 LOC440704 Silent rs10800956 1 190632794 [T/C] NR_033922 LOC440704 Silent rs16832590 1 190634131 [T/C] NR_033922 LOC440704 Silent rs1325222 1 190645553 [A/C] NR_033922 LOC440704 Silent rs10753952 1 190651533 [T/C] NR_033922 LOC440704 Silent rs6675319 1 190671240 [T/C] NR_033922 LOC440704 Silent rs1325227 1 190673080 [T/C] NR_033922 LOC440704 Silent rs1537387 1 190677421 [A/G] NR_033922 LOC440704 Silent rs10800961 1 190687205 [T/C] NR_033922 LOC440704 Silent rs7547422 1 190687853 [T/C] NR_033922 LOC440704 Silent rs12024738 1 190694813 [A/G] NR_033922 LOC440704 Silent rs6703525 1 190695477 [T/C] NR_033922 LOC440704 Silent rs472345 1 190730591 [A/G] NR_033922 LOC440704 Silent rs16832771 1 190760788 [T/C] NR_033922 LOC440704 Silent exm2264937 1 190764733 [A/G] NR_033922 LOC440704 Silent rs7550667 1 190768945 [A/C] NR_033922 LOC440704 EXON Silent rs12029687 1 190785818 [A/G] rs12564225 1 190786827 [A/G] rs2489676 1 190804630 [T/G] rs10494649 1 190813289 [T/C] rs12143564 1 190818192 [T/G] rs1438532 1 190834267 [T/G] exm-rs2053302 1 190841673 [T/C] rs10800988 1 190849399 [T/C] exm2265068 1 190860691 [A/G] rs2419932 1 190872645 [T/G] rs12411096 1 190875644 [T/C] rs1936980 1 190876141 [T/C] rs1936988 1 190885399 [T/C] rs4372256 1 190894392 [A/G] rs11811680 1 190895591 [T/C] rs12071814 1 190896859 [A/C] rs12567544 1 190913478 [A/C] rs1431139 1 190923837 [T/C] rs1431142 1 190934383 [A/G] rs7546929 1 190940126 [A/G] rs2025509 1 190953471 [A/G] rs12145021 1 190965934 [T/C] rs6683411 1 190977609 [A/G] rs10801004 1 190990146 [T/C] rs1886414 1 191016101 [T/C] rs12047686 1 191025899 [A/G] rs6685319 1 191040861 [T/G] rs7521746 1 191062388 [A/G] rs1080901 1 191076486 [T/C] rs1454353 1 191093816 [T/C] rs6428044 1 191106183 [T/G] rs12067987 1 191109973 [T/C] rs1580087 1 191145367 [A/G] rs10920908 1 191150709 [T/C] rs11801275 1 191151059 [T/C] rs12143616 1 191154092 [T/C] rs16833288 1 191161284 [A/G] rs7554791 1 191167624 [A/G] rs7418163 1 191195800 [T/C] rs7515438 1 191199033 [A/G] rs12120479 1 191223734 [A/G] rs1629378 1 191231120 [T/C] kgp3103389 1 191233878 [A/G] rs1246837 1 191238137 [A/G] rs1246726 1 191349614 [T/C] rs1923812 1 191358099 [T/G] rs10920932 1 191362050 [T/C] rs10920936 1 191377664 [T/G] exm2250411 1 191391663 [T/C] rs9651063 1 191391663 [T/C] rs2135943 1 191403411 [A/G] rs650957 1 191429227 [T/C] rs623950 1 191446589 [T/C] rs669885 1 191449983 [T/G] rs12071696 1 191453259 [T/C] rs10920959 1 191467283 [T/C] rs639721 1 191472500 [A/G] rs591536 1 191491491 [T/C] rs1892294 1 191502099 [T/C] rs661322 1 191511510 [T/G] exm-rs10801047 1 191559356 [T/A] rs12403168 1 191571287 [A/G] rs2050664 1 191577392 [T/C] rs7547370 1 191590362 [T/C] exm2268802 1 191590362 [T/C] rs1856294 1 191599645 [T/G] rs1336855 1 191604694 [A/G] rs2814580 1 191610760 [T/C] rs945672 1 191615655 [A/G] rs12047092 1 191618129 [A/G] rs7551667 1 191619165 [A/G] rs10753990 1 191619550 [A/C] rs1338034 1 191627282 [A/G] rs12080045 1 191658150 [T/C] rs1509703 1 191673544 [T/C] rs4575057 1 191677851 [A/C] rs10494658 1 191689375 [T/G] rs833959 1 191693460 [T/C] rs833976 1 191703596 [T/G] rs2785761 1 191719427 [T/G] rs2814584 1 191729205 [T/C] rs833986 1 191755912 [T/C] rs10494663 1 191776078 [T/C] rs7528316 1 191792216 [T/C] rs12023209 1 191798964 [T/C] rs6696942 1 191804265 [T/C] rs9427541 1 191853988 [A/G] rs9427802 1 191855740 [T/C] rs9427545 1 191859736 [A/C] rs12081603 1 191865100 [T/G] rs1340202 1 191868116 [A/G] rs9427808 1 191868313 [A/G] rs2369527 1 191872334 [A/G] rs9427811 1 191875752 [A/G] rs10921043 1 191887735 [T/C] rs10801082 1 191913535 [T/C] rs7530235 1 191923076 [T/C] rs946962 1 191934144 [A/G] rs9427554 1 191941669 [A/G] rs12134799 1 191983048 [A/G] rs7553698 1 192011987 [T/C] rs10218711 1 192017221 [T/C] rs3012194 1 192047263 [T/G] rs12569272 1 192085298 [T/G] exm2268961 1 192088044 [T/C] rs12119436 1 192088638 [T/G] rs17521643 1 192089215 [A/G] rs11581394 1 192108478 [T/C] rs4454527 1 192128183 [A/G] NM_130782 RGS18 Silent 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 rs1856492 1 192170402 [A/G] rs2801415 1 192182559 [T/G] rs946421 1 192211842 [T/C] rs7517414 1 192225979 [T/C] rs1175154 1 192230089 [A/G] rs1175119 1 192249116 [A/C] rs6663865 1 192296038 [T/C] NM_001039152 RGS21 Silent rs7514892 1 192314681 [T/C] NM_001039152 RGS21 Silent 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 rs1936671 1 192323753 [A/G] NM_001039152 RGS21 Silent rs10494671 1 192324175 [A/G] NM_001039152 RGS21 Silent indel.9011 1 192335111 [I/D] NM_001039152 RGS21 EXON variant.9012 1 192335171 [T/C] NM_001039152 RGS21 EXON Nonsense_R126X exm132774 1 192335180 [A/G] NM_001039152 RGS21 EXON Missense_K129E rs7528947 1 192335792 [A/G] NM_001039152 RGS21 EXON Silent rs1936712 1 192352776 [T/C] rs1936709 1 192356989 [A/G] rs7545533 1 192372674 [A/G] rs12079013 1 192387427 [A/G] rs10754006 1 192390633 [A/G] rs6676076 1 192405661 [T/C] rs2887558 1 192417416 [A/G] rs12568724 1 192417494 [A/G] rs16834300 1 192417680 [T/C] exm2250417 1 192430085 [A/C] rs12067906 1 192431998 [T/C] rs7552778 1 192443256 [A/G] rs7515864 1 192461456 [A/G] rs6681144 1 192469607 [T/G] rs4657830 1 192481285 [T/C] rs10754013 1 192502783 [A/G] rs1323299 1 192510030 [T/G] rs10921191 1 192514029 [A/C] rs1323298 1 192519865 [T/C] exm-rs2816316 1 192536813 [A/C] rs2760530 1 192538496 [T/G] exm132781 1 192544929 [A/G] NM_002922 RGS1 EXON Missense_A3T rs7535818 1 192545099 [A/G] NM_002922 RGS1 Silent 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 rs2760535 1 192549912 [A/G] rs6701700 1 192556309 [A/G] rs10489873 1 192559646 [A/G] rs2760511 1 192561472 [A/C] rs10921206 1 192567674 [T/C] rs10489877 1 192570150 [A/G] rs7553821 1 192598635 [T/C] rs6658382 1 192605325 [T/C] NM_002927,NM_144766 RGS13,RGS13 EXON Silent,Silent rs12044559 1 192609268 [T/C] NM_002927,NM_144766 RGS13,RGS13 Silent,Silent rs4658062 1 192616195 [A/G] NM_002927,NM_144766 RGS13,RGS13 Silent,Silent exm1743259 1 192617063 [T/C] NM_002927,NM_144766 RGS13,RGS13 EXON Synonymous_L25L,Synonymous_L25L rs9287126 1 192625530 [A/C] NM_002927,NM_144766 RGS13,RGS13 Silent,Silent exm132826 1 192627337 [T/C] NM_002927,NM_144766 RGS13,RGS13 EXON Missense_P45L,Missense_P45L exm2250419 1 192627431 [A/G] NM_002927,NM_144766 RGS13,RGS13 EXON Synonymous_R76R,Synonymous_R76R exm132839 1 192628623 [C/G] NM_002927,NM_144766 RGS13,RGS13 EXON Missense_L150F,Missense_L150F rs1933709 1 192638215 [T/C] rs1933705 1 192660401 [A/C] rs16834698 1 192696582 [T/G] rs10921257 1 192739041 [T/C] rs17646713 1 192755994 [T/C] rs6703040 1 192757432 [A/C] rs10801153 1 192763948 [A/G] rs7531013 1 192765943 [A/G] variant.9016 1 192778205 [T/C] NM_002923 RGS2 EXON Nonsense_Q2X 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 indel.9021 1 192779368 [I/D] NM_002923 RGS2 EXON exm132867 1 192780164 [A/G] NM_002923 RGS2 EXON Missense_I110V variant.9022 1 192780185 [T/G] NM_002923 RGS2 EXON Nonsense_E117X variant.9024 1 192780676 [T/C] NM_002923 RGS2 EXON Nonsense_Q196X rs2153084 1 192802381 [A/G] rs1231728 1 192818018 [A/C] rs4140450 1 192845807 [T/C] rs7527185 1 192883411 [T/C] rs10801161 1 192886814 [T/C] rs842796 1 192902415 [T/C] rs710140 1 192912108 [A/G] rs7512241 1 192946832 [A/G] rs9427831 1 192958145 [A/C] exm132878 1 192985507 [T/C] NM_015984,NM_001199261 UCHL5,UCHL5 EXON Missense_A322T,Missense_A321T exm-rs9427573 1 192995213 [T/C] NM_015984,NM_001199261,NM_001199263,NM_001199262,NR_037607 UCHL5,UCHL5,UCHL5,UCHL5,UCHL5 Silent,Silent,Silent,Silent,Silent exm132886 1 192997237 [T/C] NM_015984,NM_001199261,NM_001199263,NM_001199262,NR_037607 UCHL5,UCHL5,UCHL5,UCHL5,UCHL5 EXON Missense_V203I,Missense_V203I,Missense_V203I,Missense_V203I,Silent exm132892 1 192998369 [G/C] NM_015984,NM_001199261,NM_001199263,NM_001199262,NR_037607 UCHL5,UCHL5,UCHL5,UCHL5,UCHL5 EXON Missense_V169L,Missense_V169L,Missense_V169L,Missense_V169L,Silent newrs192961842 1 192998513 [T/C] NM_015984,NM_001199261,NM_001199263,NM_001199262,NR_037607 UCHL5,UCHL5,UCHL5,UCHL5,UCHL5 Silent,Silent,Silent,Silent,Silent exm132932 1 193038254 [A/G] NM_001173524,NR_033393,NM_001042370,NM_001173525,NM_001042369,NM_004600 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_001042370,NM_001173525,NM_001042369,NM_004600 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_001042370,NM_001173525,NM_001042369,NM_004600 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_001042370,NM_001173525,NM_001042369,NM_004600 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_001042370,NM_001173525,NM_001042369,NM_004600 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_001042370,NM_001173525,NM_001042369,NM_004600 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Missense_A327T,Silent,Missense_A327T,Missense_A327T,Missense_A327T,Missense_A327T rs2275444 1 193051685 [A/G] NM_001173524,NR_033393,NM_001042370,NM_001173525,NM_001042369,NM_004600 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 Silent,Silent,Silent,Silent,Silent,Silent rs10921308 1 193052205 [T/G] NM_001173524,NR_033393,NM_001042370,NM_001173525,NM_001042369,NM_004600 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 Silent,Silent,Silent,Silent,Silent,Silent exm132980 1 193053716 [A/G] NM_001173524,NR_033393,NM_001042370,NM_001173525,NM_001042369,NM_004600 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Missense_D491G,Silent,Missense_D491G,Missense_D491G,Missense_D491G,Missense_D491G rs10921309 1 193054154 [A/G] NM_001173524,NR_033393,NM_001042370,NM_001173525,NM_001042369,NM_004600 TROVE2,TROVE2,TROVE2,TROVE2,TROVE2,TROVE2 EXON Silent,Silent,Silent,Silent,Silent,Silent exm132996 1 193065799 [A/G] NM_016066,NM_197962,NM_001243399 GLRX2,GLRX2,GLRX2 EXON Missense_H152Y,Missense_H151Y,Missense_H111Y variant.9032 1 193065856 [A/C] NM_016066,NM_197962,NM_001243399 GLRX2,GLRX2,GLRX2 EXON Nonsense_G133X,Nonsense_G132X,Nonsense_G92X variant.9033 1 193070279 [A/G] NM_016066,NM_197962,NM_001243399 GLRX2,GLRX2,GLRX2 EXON Nonsense_Q60X,Nonsense_Q59X,Nonsense_Q19X 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 rs10921312 1 193077301 [T/C] exm2250421 1 193104827 [A/G] NM_024529 CDC73 Silent variant.9036 1 193121574 [A/G] NM_024529 CDC73 EXON Synonymous_T324T rs6689102 1 193135598 [A/G] NM_024529 CDC73 Silent variant.9037 1 193149512 [T/C] NM_024529,NM_003783 CDC73,B3GALT2 EXON Silent,Nonsense_W394X 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 rs6676878 1 193161959 [A/G] NM_024529 CDC73 Silent rs12085373 1 193164147 [T/C] NM_024529 CDC73 Silent exm133103 1 193181196 [T/G] NM_024529 CDC73 EXON Synonymous_V344V rs10921327 1 193190460 [A/G] NM_024529 CDC73 Silent rs12410213 1 193193597 [T/G] NM_024529 CDC73 Silent rs1578242 1 193236656 [T/C] rs560900 1 193282883 [T/C] rs1770000 1 193288856 [T/G] rs1769999 1 193291213 [T/C] rs16835319 1 193334309 [T/C] rs6667545 1 193383564 [T/C] rs16829482 1 193391298 [T/G] rs7528241 1 193421360 [A/G] rs2038750 1 193424164 [T/C] rs7518647 1 193442375 [T/G] rs7549962 1 193442639 [A/C] rs752276 1 193443157 [A/G] rs10494682 1 193450009 [A/G] rs10921353 1 193451373 [A/G] rs12406893 1 193457511 [T/C] rs12729450 1 193461282 [T/C] rs7538476 1 193469347 [T/G] rs6660273 1 193482494 [A/G] rs7517985 1 193488778 [A/G] rs10218732 1 193493591 [A/G] rs6692705 1 193502609 [A/G] rs16835504 1 193503684 [A/G] rs9660530 1 193521335 [T/C] exm2268803 1 193521335 [T/C] rs4657871 1 193523636 [A/G] rs16835564 1 193547909 [T/C] rs731361 1 193559230 [T/C] rs979497 1 193569748 [A/G] rs6428182 1 193592394 [A/G] rs10801214 1 193609764 [A/G] rs10921400 1 193625278 [T/C] rs6695669 1 193630577 [A/G] rs7550917 1 193634651 [A/G] rs10921412 1 193661626 [T/C] rs7551855 1 193667535 [T/C] rs10801229 1 193678599 [A/G] rs12075525 1 193684171 [A/G] rs2031832 1 193695077 [A/C] rs10921423 1 193709733 [T/C] rs4344313 1 193711172 [A/C] rs1887628 1 193720321 [T/C] rs6697603 1 193722542 [A/G] rs2025934 1 193734900 [A/G] rs6661798 1 193740390 [T/C] rs1328177 1 193741207 [T/G] rs6687160 1 193756440 [A/G] rs1328180 1 193757853 [T/C] rs990812 1 193763292 [A/G] rs1410394 1 193772404 [T/C] rs10921443 1 193783317 [T/G] rs6693857 1 193788485 [A/G] exm2268962 1 193792484 [T/C] rs1575938 1 193792484 [T/C] rs10801260 1 193808170 [T/G] rs17692475 1 193808319 [T/C] rs10737633 1 193808664 [A/C] rs12036144 1 193824708 [T/C] rs600023 1 193836086 [A/G] rs517206 1 193849656 [T/C] rs643477 1 193850958 [A/G] rs670747 1 193859025 [T/G] rs12057376 1 193864579 [T/G] rs544511 1 193871478 [T/C] rs4326606 1 193878858 [A/G] rs7541852 1 193890360 [A/G] rs11805075 1 193890660 [A/G] rs4330903 1 193895333 [T/C] rs574986 1 193901506 [A/G] rs4657892 1 193901655 [A/G] rs6680840 1 193917413 [T/C] exm-rs606149 1 193921548 [T/C] rs1570442 1 193923694 [T/C] rs642668 1 193929977 [T/C] rs669015 1 193956727 [T/C] rs654447 1 193957678 [A/C] rs1590324 1 193960753 [A/G] rs16836062 1 193969210 [T/C] rs10737634 1 193994024 [T/C] rs12731751 1 194011835 [A/G] rs12073039 1 194013928 [A/G] rs2584257 1 194033705 [A/C] rs16836197 1 194051568 [A/G] rs685089 1 194064837 [A/C] rs520472 1 194065895 [T/C] exm2264939 1 194066989 [A/G] rs719813 1 194080827 [T/G] rs490363 1 194084026 [A/G] rs2584256 1 194084297 [A/C] rs6428206 1 194089365 [T/C] rs693833 1 194089817 [A/C] rs2506068 1 194110960 [A/C] rs2485041 1 194118455 [A/C] rs1487528 1 194130204 [T/G] rs6670222 1 194147683 [A/G] rs6678341 1 194158003 [T/C] kgp7891592 1 194158025 [A/G] rs16836509 1 194166255 [T/C] rs12066981 1 194212515 [T/G] rs2506048 1 194258816 [T/C] rs1972217 1 194263168 [T/G] rs1325426 1 194278945 [A/G] rs6700148 1 194309053 [A/C] rs4390154 1 194322167 [A/C] rs7515996 1 194324826 [A/G] rs7548680 1 194348173 [T/C] rs4460614 1 194377156 [A/G] rs12401747 1 194403061 [A/G] rs6428233 1 194405611 [A/G] rs4291483 1 194407083 [T/G] rs4381164 1 194416810 [A/C] rs16836978 1 194423891 [T/C] rs16836992 1 194429176 [A/G] rs7514959 1 194448945 [A/C] rs2494316 1 194492493 [A/C] rs3001167 1 194530914 [A/G] rs3009382 1 194537085 [T/C] rs12406807 1 194558050 [A/C] rs3001223 1 194569085 [T/G] rs6691362 1 194572285 [T/C] rs3009322 1 194580669 [T/G] rs10494709 1 194584977 [T/C] rs13376197 1 194591753 [T/C] rs3009358 1 194617533 [A/C] rs10801343 1 194639330 [T/G] rs10157433 1 194639414 [T/C] rs7555373 1 194660227 [A/G] rs10801344 1 194682062 [A/C] rs6428262 1 194683889 [T/C] rs12140285 1 194683991 [A/C] rs12138052 1 194702869 [A/G] rs10801345 1 194703530 [A/G] rs995805 1 194707591 [A/G] rs914273 1 194709891 [T/C] rs2131384 1 194736589 [T/G] exm2268804 1 194736589 [T/G] rs6669812 1 194749075 [T/C] rs6702232 1 194760481 [A/C] rs764552 1 194765326 [A/G] rs10754115 1 194772457 [A/G] rs6656153 1 194775338 [T/C] rs10494714 1 194802115 [T/C] rs6686114 1 194810589 [A/G] rs1410470 1 194811972 [A/G] rs339620 1 194839289 [A/G] rs339567 1 194842734 [T/C] rs1927707 1 194863270 [T/G] rs4657944 1 194868558 [T/C] rs339653 1 194888936 [T/C] rs7515328 1 194889402 [A/G] rs560517 1 194902278 [T/C] rs4292939 1 194909372 [A/C] rs339591 1 194910383 [A/G] rs339597 1 194914012 [T/C] rs10921706 1 194929606 [A/G] rs9659629 1 194938031 [A/C] rs339571 1 194941213 [A/C] rs572607 1 194945275 [T/C] rs6693848 1 194955350 [T/G] rs2210331 1 194980508 [A/G] rs10754124 1 194993511 [T/C] rs1934206 1 195032861 [A/C] rs16837755 1 195044251 [T/C] rs4657796 1 195052937 [T/C] exm2264940 1 195053488 [A/G] rs6684597 1 195085692 [T/G] rs822456 1 195095179 [T/C] rs12067771 1 195113428 [T/C] rs10921803 1 195116480 [T/C] rs598224 1 195132593 [T/C] rs643532 1 195134340 [A/G] rs603495 1 195139365 [T/C] rs613938 1 195164476 [A/G] rs6688980 1 195191693 [T/C] rs2183227 1 195219984 [T/C] rs16838214 1 195241106 [T/C] rs17609129 1 195241681 [T/C] rs2026082 1 195247438 [T/G] rs6428282 1 195267072 [A/C] rs1324707 1 195277736 [A/G] exm2268964 1 195280424 [T/C] rs11587011 1 195288287 [T/C] rs12022395 1 195302846 [T/C] rs12731553 1 195316969 [T/G] rs12125032 1 195341727 [A/C] rs10754139 1 195346285 [A/G] rs6702266 1 195376972 [T/C] rs6692973 1 195384254 [A/G] rs7538519 1 195386897 [T/C] rs16838352 1 195390646 [T/C] rs7515446 1 195393642 [T/C] rs12128390 1 195420070 [A/G] rs7515652 1 195424142 [A/G] rs10921854 1 195448403 [T/C] rs10754140 1 195448770 [A/G] rs11586254 1 195448951 [A/G] rs7541185 1 195467306 [A/C] rs10754143 1 195477551 [T/C] rs12038043 1 195506117 [A/C] rs2773454 1 195515431 [A/G] rs1890645 1 195531423 [T/C] exm-rs1890645 1 195531423 [T/C] rs2790075 1 195548638 [A/C] rs10494727 1 195569614 [T/C] rs10921881 1 195606741 [T/C] rs1556455 1 195629083 [A/G] rs2183858 1 195632577 [T/C] rs10921887 1 195646909 [T/C] rs7526474 1 195658978 [A/G] rs17672688 1 195686601 [A/G] rs12035852 1 195687201 [A/G] rs2895786 1 195702820 [T/C] rs12048401 1 195707490 [A/G] rs9943101 1 195724306 [A/C] rs10494730 1 195736070 [T/C] exm2268805 1 195738953 [T/G] rs16838884 1 195742263 [T/G] rs2400664 1 195745830 [A/G] rs2989965 1 195745968 [A/G] rs9803735 1 195760439 [A/G] rs3010167 1 195773441 [A/G] rs10218650 1 195791944 [T/G] rs4604678 1 195797849 [A/C] rs10754156 1 195804144 [T/C] rs16838961 1 195823994 [A/G] rs7530086 1 195825304 [A/G] rs6679891 1 195826738 [A/G] rs12064485 1 195831358 [T/C] rs7542834 1 195832997 [A/G] rs7546529 1 195849028 [A/G] rs2923889 1 195853219 [T/G] rs12121336 1 195859022 [A/G] rs10494737 1 195862859 [T/C] rs1869042 1 195864347 [A/G] rs1376803 1 195866450 [T/G] rs3008576 1 195869123 [T/C] rs3008552 1 195881459 [A/G] rs10921984 1 195891127 [T/C] rs2923875 1 195892617 [A/G] rs16839132 1 195909700 [T/C] exm-rs7517337 1 195914273 [A/G] rs7517337 1 195914273 [A/G] exm2264941 1 195916112 [A/G] rs984557 1 195916500 [T/C] rs4295871 1 195916887 [A/G] rs2878283 1 195919285 [T/C] exm2263866 1 195923203 [A/C] rs10921993 1 195927611 [A/G] rs4658011 1 195932083 [A/G] rs10801499 1 195934150 [A/G] rs2923907 1 195938859 [T/G] rs4657818 1 195941818 [A/G] rs1597732 1 195954813 [T/C] rs10922008 1 195977640 [T/C] rs12029379 1 195985616 [A/C] rs3008588 1 195987908 [T/C] rs6428320 1 195989351 [T/C] rs12136731 1 196007974 [T/C] rs17688176 1 196014544 [T/C] rs10922013 1 196027872 [T/G] rs12740444 1 196030268 [T/C] rs2923901 1 196030356 [T/C] exm-rs7512769 1 196042662 [A/T] rs12145838 1 196057313 [T/G] rs7519081 1 196057888 [A/G] rs11579497 1 196061711 [A/G] rs6671997 1 196062126 [T/C] rs4453019 1 196070782 [T/C] rs12405380 1 196080988 [A/G] rs4498784 1 196081615 [A/C] rs12036795 1 196089818 [A/C] rs6676015 1 196099926 [A/G] rs7543048 1 196103959 [A/G] rs16839556 1 196120613 [A/G] rs12122832 1 196125008 [A/C] rs10801520 1 196144843 [T/C] rs10754182 1 196170439 [T/C] rs10801528 1 196186750 [A/G] rs1998712 1 196187665 [A/G] variant.9040 1 196197435 [T/G] NM_198503 KCNT2 EXON Nonsense_Y1109X newrs148932019 1 196227323 [T/C] NM_198503 KCNT2 Silent exm133238 1 196227521 [A/G] NM_198503 KCNT2 EXON Missense_S1005L rs12409953 1 196234932 [A/G] NM_198503 KCNT2 Silent rs2025599 1 196243012 [A/G] NM_198503 KCNT2 Silent rs2181948 1 196281802 [T/C] NM_198503 KCNT2 Silent indel.9043 1 196285151 [D/I] NM_198503 KCNT2 EXON variant.9044 1 196295846 [T/C] NM_198503 KCNT2 Silent 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 rs946750 1 196359665 [T/C] NM_198503 KCNT2 Silent rs12729649 1 196387632 [A/G] NM_198503 KCNT2 Silent variant.9046 1 196395044 [T/C] NM_198503 KCNT2 EXON Nonsense_W353X rs1538686 1 196397819 [A/G] NM_198503 KCNT2 Silent rs6682225 1 196432158 [A/G] NM_198503 KCNT2 Silent rs10922071 1 196433870 [A/G] NM_198503 KCNT2 Silent exm133321 1 196448324 [A/G] NM_198503 KCNT2 EXON Synonymous_G123G exm2250445 1 196448324 [A/G] NM_198503 KCNT2 EXON Synonymous_G123G kgp11785730 1 196448636 [A/G] NM_198503 KCNT2 Silent rs10754192 1 196519023 [T/C] NM_198503 KCNT2 Silent rs10922084 1 196525314 [A/C] NM_198503 KCNT2 Silent exm2263867 1 196557329 [A/C] NM_198503 KCNT2 Silent rs12128544 1 196557329 [A/C] NM_198503 KCNT2 Silent rs542830 1 196594399 [A/G] rs10489457 1 196602514 [A/C] rs6695338 1 196603917 [A/G] exm133337 1 196621252 [C/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_R2T,Missense_R2T rs7524776 1 196623337 [T/C] NM_000186,NM_001014975 CFH,CFH Silent,Silent rs34388368 1 196635470 [T/G] NM_000186,NM_001014975 CFH,CFH Silent,Silent exm133341 1 196642221 [T/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_S58A,Missense_S58A exm133342 1 196642233 [A/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_V62I,Missense_V62I rs800292 1 196642233 [A/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_V62I,Missense_V62I exm-rs1329424 1 196646176 [T/G] NM_000186,NM_001014975 CFH,CFH Silent,Silent rs572515 1 196646261 [A/G] NM_000186,NM_001014975 CFH,CFH Silent,Silent exm133360 1 196646650 [A/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_V158I,Missense_V158I exm133371 1 196646779 [A/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_E201K,Missense_E201K exm133377 1 196648903 [A/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_R257H,Missense_R257H var_1_196648906 1 196648906 [T/C] NM_000186,NM_001014975 CFH,CFH EXON Missense_P258L,Missense_P258L variant.9049 1 196654311 [A/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_R303Q,Missense_R303Q variant.9051 1 196658744 [A/G] NM_000186,NM_001014975 CFH,CFH EXON Missense_R387G,Missense_R387G exm133394 1 196659231 [A/C] NM_000186,NM_001014975 CFH,CFH EXON Missense_Q400K,Missense_Q400K rs10801555 1 196660261 [A/G] NM_000186,NM_001014975 CFH,CFH Silent,Silent exm133400 1 196670459 [T/C] NM_000186,NM_001014975 CFH,CFH EXON Silent,Missense_X450R rs10754199 1 196670839 [A/G] NM_000186 CFH 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 rs6677604 1 196686918 [A/G] NM_000186 CFH Silent 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 newrs148165372 1 196694379 [A/G] NM_000186 CFH EXON Missense_V609I exm133426 1 196694427 [T/G] NM_000186 CFH EXON Nonsense_E625X newrs143237092 1 196695675 [T/G] NM_000186 CFH EXON Missense_G650V 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 rs1410996 1 196696933 [A/G] NM_000186 CFH Silent rs395544 1 196698272 [A/G] NM_000186 CFH Silent exm-rs380390 1 196701051 [C/G] NM_000186 CFH Silent rs7540032 1 196701284 [T/C] NM_000186 CFH Silent rs2284664 1 196702525 [T/C] 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 rs515299 1 196706677 [T/G] NM_000186 CFH EXON Missense_S890I 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 rs1065489 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 rs534399 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 indel.9059 1 196748331 [I/D] NM_001166624,NM_021023 CFHR3,CFHR3 EXON indel.9061 1 196759317 [I/D] NM_001166624,NM_021023 CFHR3,CFHR3 EXON exm2232142 1 196762599 [T/G] NM_001166624,NM_021023 CFHR3,CFHR3 EXON Missense_A256S,Missense_A317S indel.9065 1 196794652 [I/D] NM_002113 CFHR1 EXON rs10922144 1 196823300 [T/C] rs16840639 1 196824773 [T/C] rs16840645 1 196825077 [A/G] rs7519501 1 196840173 [T/C] rs6428363 1 196843711 [A/G] exm-rs6428370 1 196844593 [A/G] exm133633 1 196871551 [T/C] NM_001201550,NM_006684,NM_001201551 CFHR4,CFHR4,CFHR4 EXON Missense_V21A,Missense_V21A,Missense_V20A exm133636 1 196871592 [T/C] NM_001201550,NM_006684,NM_001201551 CFHR4,CFHR4,CFHR4 EXON Missense_Y35H,Missense_Y35H,Missense_Y34H exm133637 1 196871607 [T/C] NM_001201550,NM_006684,NM_001201551 CFHR4,CFHR4,CFHR4 EXON Missense_R40C,Missense_R40C,Missense_R39C exm133638 1 196871608 [A/G] NM_001201550,NM_006684,NM_001201551 CFHR4,CFHR4,CFHR4 EXON Missense_R40H,Missense_R40H,Missense_R39H exm133639 1 196871610 [A/T] NM_001201550,NM_006684,NM_001201551 CFHR4,CFHR4,CFHR4 EXON Nonsense_R41X,Nonsense_R41X,Nonsense_R40X exm133644 1 196871674 [T/C] NM_001201550,NM_006684,NM_001201551 CFHR4,CFHR4,CFHR4 EXON Missense_T62I,Missense_T62I,Missense_T61I exm133646 1 196871693 [A/G] NM_001201550,NM_006684,NM_001201551 CFHR4,CFHR4,CFHR4 EXON Nonsense_W68X,Nonsense_W68X,Nonsense_W67X variant.9069 1 196871745 [A/G] NM_001201550,NM_006684,NM_001201551 CFHR4,CFHR4,CFHR4 EXON Missense_R86G,Missense_R86G,Missense_R85G exm133651 1 196876458 [A/G] NM_001201550,NM_006684,NM_001201551 CFHR4,CFHR4,CFHR4 EXON Missense_N210S,Silent,Missense_N209S exm133666 1 196882038 [T/A] NM_001201550,NM_006684,NM_001201551 CFHR4,CFHR4,CFHR4 EXON Missense_Q389L,Missense_Q142L,Missense_Q388L exm133690 1 196887411 [T/C] NM_001201550,NM_006684,NM_001201551 CFHR4,CFHR4,CFHR4 EXON Missense_Y538H,Missense_Y291H,Missense_Y537H exm133697 1 196887480 [A/C] NM_001201550,NM_006684,NM_001201551 CFHR4,CFHR4,CFHR4 EXON Missense_L561I,Missense_L314I,Missense_L560I variant.9073 1 196887530 [A/C] NM_001201550,NM_006684,NM_001201551 CFHR4,CFHR4,CFHR4 EXON Nonsense_C577X,Nonsense_C330X,Nonsense_C576X 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 rs9427934 1 196922860 [A/G] NM_005666 CFHR2 Silent indel.9074 1 196927041 [D/I] NM_005666 CFHR2 EXON newrs41257904 1 196927185 [T/G] NM_005666 CFHR2 EXON Nonsense_E199X exm133727 1 196927185 [T/G] NM_005666 CFHR2 EXON Nonsense_E199X exm133734 1 196928188 [A/G] NM_005666 CFHR2 EXON Missense_Y264C rs7531555 1 196929310 [T/C] rs9427938 1 196933245 [T/C] rs6428379 1 196937536 [T/C] rs9427661 1 196946546 [T/C] variant.9079 1 196946849 [T/G] NM_030787 CFHR5 EXON Nonsense_E19X exm133745 1 196952046 [A/T] NM_030787 CFHR5 EXON Missense_H30Q exm133766 1 196953264 [A/C] NM_030787 CFHR5 EXON Missense_T143P rs1750311 1 196954225 [A/C] NM_030787 CFHR5 Silent variant.9081 1 196963209 [A/G] NM_030787 CFHR5 Silent 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 variant.9083 1 196963361 [A/G] NM_030787 CFHR5 EXON Nonsense_W194X variant.9084 1 196964855 [T/C] NM_030787 CFHR5 EXON Nonsense_R206X 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 variant.9086 1 196965333 [T/G] NM_030787 CFHR5 Silent exm133798 1 196967318 [T/G] NM_030787 CFHR5 EXON Missense_L344R exm133801 1 196967354 [A/G] NM_030787 CFHR5 EXON Missense_R356H variant.9089 1 196971659 [T/C] NM_030787 CFHR5 EXON Nonsense_Q399X variant.9092 1 196971794 [T/G] NM_030787 CFHR5 EXON Nonsense_E444X exm133814 1 196973789 [A/G] NM_030787 CFHR5 Silent exm1744874 1 196973817 [T/C] NM_030787 CFHR5 EXON Missense_P453S indel.9094 1 196973859 [I/D] NM_030787 CFHR5 EXON 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 rs1360558 1 196993973 [A/G] rs1332667 1 196995848 [T/G] rs13375369 1 197007229 [A/G] exm133842 1 197009688 [T/C] NM_001994 F13B EXON Missense_G639E exm133843 1 197009702 [T/C] NM_001994 F13B EXON Missense_M634I rs5998 1 197009798 [A/G] NM_001994 F13B EXON Synonymous_N602N rs10754210 1 197012111 [A/G] NM_001994 F13B Silent exm133850 1 197019858 [A/C] NM_001994 F13B EXON Missense_D569E rs2990510 1 197020658 [T/G] NM_001994 F13B Silent exm133860 1 197021940 [T/C] NM_001994 F13B EXON Missense_Y460C indel.9096 1 197024876 [I/D] NM_001994 F13B EXON 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 indel.9097 1 197026158 [I/D] NM_001994 F13B EXON exm133876 1 197026265 [T/C] NM_001994 F13B EXON Missense_H350R exm133877 1 197026289 [A/G] NM_001994 F13B EXON Missense_I342T var_1_197026307 1 197026307 [A/C] NM_001994 F13B EXON Missense_C336F rs1759007 1 197027606 [A/G] NM_001994 F13B Silent exm133895 1 197029592 [T/C] NM_001994 F13B EXON Missense_V237I rs6003 1 197031021 [T/C] NM_001994 F13B EXON Missense_R115H exm133911 1 197031021 [T/C] NM_001994 F13B EXON Missense_R115H variant.9102 1 197036288 [A/G] NM_001994 F13B Silent rs10754213 1 197055925 [T/C] NM_018136,NM_001206846 ASPM,ASPM Silent,Silent variant.9103 1 197055928 [T/C] NM_018136,NM_001206846 ASPM,ASPM Silent,Silent exm2273731 1 197056003 [T/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_Q3421K,Missense_Q1836K exm1744917 1 197057451 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_G3366R,Missense_G1781R indel.9105 1 197057491 [D/I] NM_018136,NM_001206846 ASPM,ASPM EXON indel.9106 1 197059097 [I/D] NM_018136,NM_001206846 ASPM,ASPM EXON exm133938 1 197059133 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_R3304Q,Missense_R1719Q exm133940 1 197059154 [T/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_S3297Y,Missense_S1712Y exm1744920 1 197059211 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_V3278A,Missense_V1693A exm133945 1 197059382 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_H3258R,Missense_H1673R exm133947 1 197059479 [A/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_C3226G,Missense_C1641G newrs193251130 1 197060077 [T/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_Q3180P,Missense_Q1595P exm133966 1 197061042 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_I3147V,Missense_I1562V exm133968 1 197061086 [A/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_L3132R,Missense_L1547R exm133978 1 197062222 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_I3085T,Missense_I1500T exm133982 1 197062298 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Nonsense_Q3060X,Nonsense_Q1475X exm133989 1 197063292 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Synonymous_A3002A,Synonymous_A1417A exm2250451 1 197063292 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Synonymous_A3002A,Synonymous_A1417A exm133995 1 197065186 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_I2977V,Missense_I1392V exm134003 1 197069640 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_I2914T,Silent exm134006 1 197069766 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_T2872M,Silent exm134011 1 197069857 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_R2842W,Silent indel.9111 1 197069874 [D/I] NM_018136,NM_001206846 ASPM,ASPM EXON exm1744949 1 197069929 [A/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_A2818S,Silent indel.9112 1 197069968 [I/D] NM_018136,NM_001206846 ASPM,ASPM EXON exm134018 1 197070126 [A/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_M2752R,Silent exm1744951 1 197070153 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_R2743Q,Silent indel.9114 1 197070249 [I/D] NM_018136,NM_001206846 ASPM,ASPM EXON var_1_197070283 1 197070283 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Nonsense_R2700X,Silent exm134024 1 197070313 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_R2690W,Silent exm134028 1 197070372 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_I2670T,Silent exm134032 1 197070442 [T/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_L2647I,Silent exm134043 1 197070697 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_S2562G,Silent rs10922162 1 197070776 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Synonymous_V2535V,Silent exm134052 1 197070816 [A/C] NM_018136,NM_001206846 ASPM,ASPM EXON Nonsense_L2522X,Silent exm134056 1 197070901 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_Y2494H,Silent exm1744961 1 197070906 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_R2492K,Silent exm134058 1 197070953 [A/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_K2476N,Silent exm134067 1 197071224 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_H2386R,Silent exm1744965 1 197071267 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_R2372G,Silent exm134074 1 197071585 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_A2266T,Silent exm134077 1 197071654 [A/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_V2243L,Silent exm134085 1 197071813 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Nonsense_Q2190X,Silent variant.9118 1 197071813 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Nonsense_Q2190X,Silent exm134086 1 197071830 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_R2184Q,Silent indel.9119 1 197071833 [I/D] NM_018136,NM_001206846 ASPM,ASPM EXON exm134094 1 197072106 [T/A] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_N2092I,Silent exm134097 1 197072250 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_N2044S,Silent exm134098 1 197072256 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_D2042G,Silent exm134107 1 197072434 [T/A] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_M1983L,Silent exm2250452 1 197072441 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Synonymous_Y1980Y,Silent exm1744976 1 197072484 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_Q1966R,Silent exm134112 1 197072560 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_C1941R,Silent exm134113 1 197072563 [C/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_Q1940E,Silent exm134115 1 197072640 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_Q1914R,Silent exm134123 1 197072776 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_T1869A,Silent exm134126 1 197072802 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_A1860V,Silent exm134129 1 197072830 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_I1851V,Silent exm1744979 1 197072871 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_G1837D,Silent exm134136 1 197072929 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_R1818C,Silent exm134141 1 197073154 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_L1743F,Silent exm1744982 1 197073157 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_Y1742H,Silent exm134143 1 197073196 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_R1729W,Silent 1KG_1_197073231 1 197073231 [I/D] NM_018136,NM_001206846 ASPM,ASPM EXON newrs148294838 1 197073245 [T/G] NM_018136,NM_001206846 ASPM,ASPM EXON Nonsense_Y1712X,Silent exm134151 1 197073298 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_R1695C,Silent exm134152 1 197073318 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_T1688I,Silent exm134156 1 197073396 [A/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_I1662S,Silent exm134161 1 197073484 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_R1633C,Silent variant.9124 1 197073532 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Nonsense_R1617X,Silent exm134170 1 197073648 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_R1578Q,Silent indel.9126 1 197073654 [D/I] NM_018136,NM_001206846 ASPM,ASPM EXON exm134174 1 197073885 [A/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_R1499L,Silent exm134180 1 197073945 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_K1479R,Silent exm134183 1 197073979 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_A1468T,Silent exm134189 1 197074168 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_R1405C,Silent newrs140602858 1 197091104 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Nonsense_R1271X,Nonsense_R1271X exm134210 1 197091143 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_A1258T,Missense_A1258T exm134229 1 197093319 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_G1104D,Missense_G1104D exm134231 1 197093361 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_S1090F,Missense_S1090F exm134233 1 197093401 [T/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_K1077Q,Missense_K1077Q indel.9132 1 197094290 [D/I] NM_018136,NM_001206846 ASPM,ASPM EXON exm134245 1 197094290 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_D990N,Missense_D990N exm2232154 1 197097642 [A/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_L972V,Missense_L972V indel.9133 1 197097685 [D/I] NM_018136,NM_001206846 ASPM,ASPM EXON var_1_197097693 1 197097693 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Nonsense_Q955X,Nonsense_Q955X variant.9135 1 197099045 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_G877S,Missense_G877S variant.9136 1 197101429 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Nonsense_R825X,Nonsense_R825X exm1745027 1 197102571 [A/T] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_E776D,Missense_E776D exm134274 1 197102632 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_Y756C,Missense_Y756C exm134275 1 197102636 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_A755T,Missense_A755T indel.9137 1 197102659 [D/I] NM_018136,NM_001206846 ASPM,ASPM EXON exm134277 1 197102681 [T/A] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_I740L,Missense_I740L exm134287 1 197108936 [A/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_A663S,Missense_A663S exm134299 1 197111642 [C/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_S580R,Missense_S580R exm134300 1 197111650 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_D578N,Missense_D578N exm134302 1 197111665 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_R573W,Missense_R573W indel.9138 1 197111710 [I/D] NM_018136,NM_001206846 ASPM,ASPM EXON exm134308 1 197111877 [C/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_A502G,Missense_A502G exm134312 1 197111931 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_N484S,Missense_N484S exm134314 1 197111997 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_Y462C,Missense_Y462C exm134316 1 197112078 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_S435L,Missense_S435L exm134322 1 197112198 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_Q395R,Missense_Q395R exm134324 1 197112241 [A/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_D381Y,Missense_D381Y exm134326 1 197112375 [T/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_T336K,Missense_T336K exm2232157 1 197112445 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_I313V,Missense_I313V exm134329 1 197112477 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_C302Y,Missense_C302Y exm134334 1 197112538 [T/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_N282H,Missense_N282H exm134339 1 197112706 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_P226S,Missense_P226S exm134341 1 197112736 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_E216K,Missense_E216K exm134342 1 197112738 [T/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_E215A,Missense_E215A exm134345 1 197112756 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_N209S,Missense_N209S exm1745046 1 197112801 [T/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_A194D,Missense_A194D exm134347 1 197112805 [T/G] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_Q193K,Missense_Q193K exm134349 1 197112807 [A/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_L192R,Missense_L192R exm134350 1 197112823 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_R187G,Missense_R187G exm134351 1 197112859 [T/C] NM_018136,NM_001206846 ASPM,ASPM EXON Missense_V175I,Missense_V175I newrs137852996 1 197113179 [A/G] NM_018136,NM_001206846 ASPM,ASPM EXON Nonsense_R117X,Nonsense_R117X exm134358 1 197115345 [T/C] NM_018136,NM_001206846 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 variant.9145 1 197128671 [A/G] NM_194314 ZBTB41 EXON Nonsense_R850X exm134382 1 197128680 [T/C] NM_194314 ZBTB41 EXON Missense_D847N exm134387 1 197128742 [T/C] NM_194314 ZBTB41 EXON Missense_R826H rs10429911 1 197146144 [A/C] NM_194314 ZBTB41 Silent variant.9147 1 197147542 [T/C] NM_194314 ZBTB41 Silent exm134425 1 197168579 [T/C] NM_194314 ZBTB41 EXON Missense_G342E rs10494751 1 197168625 [A/C] NM_194314 ZBTB41 EXON Missense_D327Y 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 rs10922187 1 197187605 [T/C] NM_001257965 CRB1 Silent rs517222 1 197227033 [A/G] NM_001257965 CRB1 Silent exm134457 1 197237571 [T/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Silent,Missense_L10P,Silent,Silent,Missense_L10P,Missense_L10P rs1009188 1 197257090 [T/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent rs10801601 1 197266535 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent rs11809356 1 197293463 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent exm134459 1 197297580 [T/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Silent,Missense_R33S,Silent,Silent,Missense_R33S,Missense_R33S exm134460 1 197297616 [G/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Silent,Missense_C45W,Silent,Silent,Missense_C45W,Missense_C45W exm2250453 1 197297637 [T/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Silent,Synonymous_N52N,Silent,Silent,Synonymous_N52N,Synonymous_N52N exm134462 1 197297642 [T/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Silent,Missense_C54F,Silent,Silent,Missense_C54F,Missense_C54F exm134469 1 197297965 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_V93M,Missense_V162M,Silent,Silent,Missense_V162M,Missense_V162M 1KG_1_197297973 1 197297973 [I/D] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON exm134474 1 197298095 [T/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_I136T,Missense_I205T,Silent,Silent,Missense_I205T,Missense_I205T rs2786111 1 197306099 [T/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent rs949571 1 197313189 [T/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent exm134476 1 197313422 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_E153K,Missense_E222K,Silent,Silent,Missense_E222K,Silent exm134477 1 197313437 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_E158K,Missense_E227K,Silent,Silent,Missense_E227K,Silent exm-rs2786098 1 197325908 [T/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent rs2786119 1 197329535 [A/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent exm2265070 1 197359999 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent rs2476020 1 197368281 [T/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent rs11802794 1 197372250 [A/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent 1KG_1_197383063 1 197383063 [I/D] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 newrs114342808 1 197390534 [T/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Nonsense_R457X,Nonsense_R526X,Silent,Silent,Nonsense_R526X,Nonsense_R414X newrs62636266 1 197391000 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_C612Y,Missense_C681Y,Silent,Silent,Missense_C681Y,Missense_C569Y variant.9157 1 197391009 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R615K,Missense_R684K,Silent,Silent,Missense_R684K,Missense_R572K exm134548 1 197396584 [T/A] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_E641V,Missense_E710V,Silent,Silent,Silent,Missense_E598V exm134551 1 197396680 [T/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_F673S,Missense_F742S,Silent,Silent,Silent,Missense_F630S exm134552 1 197396685 [A/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Synonymous_R675R,Synonymous_R744R,Silent,Silent,Silent,Synonymous_R632R newrs28939720 1 197396689 [T/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_T676M,Missense_T745M,Silent,Silent,Silent,Missense_T633M exm134554 1 197396745 [T/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R695C,Missense_R764C,Silent,Silent,Silent,Missense_R652C exm134557 1 197396761 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R700H,Missense_R769H,Silent,Silent,Silent,Missense_R657H exm134563 1 197396853 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_I731V,Missense_I800V,Silent,Silent,Silent,Missense_I688V exm134567 1 197396917 [T/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_T752M,Missense_T821M,Silent,Silent,Silent,Missense_T709M newrs116471343 1 197396961 [A/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_P767T,Missense_P836T,Silent,Silent,Silent,Missense_P724T exm134571 1 197396961 [A/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_P767T,Missense_P836T,Silent,Silent,Silent,Missense_P724T newrs62636290 1 197398583 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_N870S,Missense_N894S,Silent,Silent,Silent,Missense_N782S exm134580 1 197398616 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R881Q,Missense_R905Q,Silent,Silent,Silent,Missense_R793Q exm134581 1 197398648 [T/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_L892F,Missense_L916F,Silent,Silent,Silent,Missense_L804F exm134587 1 197403836 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_C924Y,Missense_C948Y,Silent,Silent,Silent,Missense_C836Y newrs143511261 1 197404030 [T/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Nonsense_Q989X,Nonsense_Q1013X,Silent,Silent,Silent,Nonsense_Q901X exm134608 1 197404390 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_V1109M,Missense_V1133M,Silent,Silent,Silent,Missense_V1021M exm134616 1 197404618 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_V1185M,Missense_V1209M,Silent,Silent,Silent,Missense_V1097M variant.9167 1 197404669 [T/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Nonsense_G1202X,Nonsense_G1226X,Silent,Silent,Silent,Nonsense_G1114X exm134618 1 197404688 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_H1208R,Missense_H1232R,Silent,Silent,Silent,Missense_H1120R exm134620 1 197407736 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_N1246S,Missense_N1270S,Silent,Silent,Missense_N734S,Missense_N1158S exm2273732 1 197407751 [G/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_T1251R,Missense_T1275R,Silent,Silent,Missense_T739R,Missense_T1163R indel.9168 1 197411301 [I/D] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON newrs62636285 1 197411409 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R1307H,Missense_R1331H,Silent,Silent,Missense_R795H,Missense_R1219H exm134631 1 197411409 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R1307H,Missense_R1331H,Silent,Silent,Missense_R795H,Missense_R1219H variant.9170 1 197411412 [T/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_C1308F,Missense_C1332F,Silent,Silent,Missense_C796F,Missense_C1220F rs7514167 1 197425806 [T/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 Silent,Silent,Silent,Silent,Silent,Silent exm134636 1 197446848 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_A1330T,Missense_A1354T,Silent,Silent,Missense_A818T,Missense_A1242T variant.9171 1 197446848 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_A1330T,Missense_A1354T,Silent,Silent,Missense_A818T,Missense_A1242T exm134641 1 197446936 [A/G] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Missense_R1359H,Missense_R1383H,Silent,Silent,Missense_R847H,Missense_R1271H variant.9172 1 197446956 [T/C] NM_001257965,NM_201253,NR_047563,NR_047564,NM_001257966,NM_001193640 CRB1,CRB1,CRB1,CRB1,CRB1,CRB1 EXON Nonsense_R1366X,Nonsense_R1390X,Silent,Silent,Nonsense_R854X,Nonsense_R1278X rs2160967 1 197456295 [T/C] rs10494754 1 197463936 [T/C] 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 rs2287537 1 197482265 [A/G] NM_001195215 DENND1B Silent exm134673 1 197509107 [T/C] NM_001195215 DENND1B EXON Missense_R501H variant.9173 1 197509203 [T/C] NM_001195215 DENND1B Silent rs10801614 1 197520273 [T/C] NM_001195215 DENND1B Silent rs6677361 1 197521877 [T/C] NM_001195215,NM_144977 DENND1B,DENND1B EXON Silent,Silent exm134691 1 197552310 [A/G] NM_001195215,NM_144977 DENND1B,DENND1B EXON Missense_T374I,Missense_T374I rs6702421 1 197559324 [T/C] NM_001195215,NM_144977 DENND1B,DENND1B Silent,Silent exm134700 1 197564423 [A/G] NM_001195215,NM_144977 DENND1B,DENND1B EXON Missense_A321V,Missense_A321V rs11799915 1 197582780 [A/G] NM_001195215,NM_144977 DENND1B,DENND1B Silent,Silent rs2111930 1 197586232 [T/C] NM_001195215,NM_144977 DENND1B,DENND1B Silent,Silent rs4282851 1 197590190 [A/G] NM_001195215,NM_144977 DENND1B,DENND1B Silent,Silent rs10442656 1 197606708 [T/C] NM_001195215,NM_144977 DENND1B,DENND1B Silent,Silent variant.9174 1 197616185 [T/C] NM_001195215,NM_144977 DENND1B,DENND1B EXON Synonymous_P169P,Synonymous_P169P 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 rs2488401 1 197702401 [T/C] NM_001195215,NM_144977 DENND1B,DENND1B Silent,Silent exm-rs1998598 1 197727642 [A/G] NM_001195215,NM_144977,NM_001195216 DENND1B,DENND1B,DENND1B Silent,Silent,Silent rs2488394 1 197735497 [A/C] NM_001195215,NM_144977,NM_001195216 DENND1B,DENND1B,DENND1B Silent,Silent,Silent exm-rs12134279 1 197781198 [T/C] rs11803984 1 197784572 [T/C] rs6667560 1 197794699 [A/G] rs6678151 1 197811282 [A/C] rs10922298 1 197811566 [T/C] rs12026183 1 197813032 [T/C] rs10922306 1 197823360 [A/G] rs10922313 1 197836347 [T/C] rs10801629 1 197844367 [T/C] rs12138550 1 197866357 [T/C] exm134750 1 197871863 [A/G] NM_001024594 C1orf53 EXON Nonsense_W28X indel.9180 1 197874941 [I/D] NM_001024594 C1orf53 EXON 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 rs12568860 1 197897332 [T/C] NM_001014434,NM_020204 LHX9,LHX9 Silent,Silent exm134811 1 197898187 [A/T] NM_001014434,NM_020204 LHX9,LHX9 EXON Missense_N322I,Missense_N331I rs17644383 1 197912389 [A/G] rs6671069 1 197913101 [T/C] rs1909507 1 197919693 [A/G] rs1475145 1 197959936 [T/C] rs17304978 1 197960889 [A/C] rs1543511 1 197968019 [T/C] rs1125953 1 197968386 [T/C] rs12561995 1 197976444 [A/G] rs2065150 1 197977954 [A/G] rs1114740 1 197982554 [T/C] rs7551861 1 197995961 [A/G] rs6667378 1 198000253 [A/G] rs2093531 1 198011397 [A/G] rs12063190 1 198013103 [T/C] rs2146334 1 198026675 [T/G] rs1233833 1 198036134 [A/G] rs1233827 1 198043697 [A/G] rs7529161 1 198051161 [A/G] rs1233817 1 198055493 [T/C] exm2268808 1 198055493 [T/C] rs1233811 1 198068767 [A/G] rs12136149 1 198077025 [T/G] rs10158950 1 198083440 [A/G] rs12735014 1 198087021 [A/G] rs16842431 1 198104472 [A/C] rs6690826 1 198105828 [T/C] rs3762382 1 198128859 [A/G] NM_133494 NEK7 Silent rs6671879 1 198140938 [A/G] NM_133494 NEK7 Silent rs6670073 1 198155858 [A/G] NM_133494 NEK7 Silent rs6428437 1 198165379 [T/G] NM_133494 NEK7 Silent exm134822 1 198201732 [A/C] NM_133494 NEK7 EXON Missense_M8L rs12060034 1 198224252 [A/G] NM_133494 NEK7 Silent newrs72731918 1 198225478 [A/G] NM_133494 NEK7 Silent rs1927252 1 198233907 [A/C] NM_133494 NEK7 Silent variant.9184 1 198248196 [A/G] NM_133494 NEK7 Silent rs6668469 1 198249195 [T/C] NM_133494 NEK7 Silent variant.9185 1 198266370 [A/G] NM_133494 NEK7 EXON Synonymous_E266E rs16842754 1 198277135 [A/C] NM_133494 NEK7 Silent rs1061258 1 198287269 [A/G] NM_133494 NEK7 Silent rs11588882 1 198291707 [A/G] rs6428452 1 198300755 [A/G] rs1556017 1 198315934 [A/G] rs4515818 1 198325719 [T/C] rs6702048 1 198327168 [A/G] rs1008987 1 198333063 [T/C] rs12091692 1 198358658 [A/G] exm-rs4420115 1 198365219 [T/C] rs7545645 1 198389958 [A/G] rs12078566 1 198393815 [A/G] rs4357560 1 198393988 [T/C] rs12039987 1 198410706 [T/C] rs10922421 1 198417152 [T/G] rs2640175 1 198421267 [T/G] rs4477310 1 198436809 [A/C] rs6675274 1 198442748 [A/C] rs4915287 1 198453920 [A/G] rs4915149 1 198454280 [T/C] rs12048578 1 198474448 [T/C] rs2249320 1 198484427 [A/G] rs16843226 1 198484784 [A/G] exm134867 1 198492562 [T/C] NM_133326,NM_133262 ATP6V1G3,ATP6V1G3 EXON Silent,Missense_M106V exm134873 1 198498234 [G/C] NM_133326,NM_133262 ATP6V1G3,ATP6V1G3 EXON Silent,Missense_E54Q exm134874 1 198498263 [A/G] NM_133326,NM_133262 ATP6V1G3,ATP6V1G3 EXON Synonymous_N59N,Missense_I44T exm134875 1 198498299 [T/C] NM_133326,NM_133262 ATP6V1G3,ATP6V1G3 EXON Synonymous_A47A,Missense_R32Q rs3736929 1 198505546 [T/G] NM_133326,NM_133262 ATP6V1G3,ATP6V1G3 Silent,Silent exm134878 1 198505830 [T/C] NM_133326,NM_133262 ATP6V1G3,ATP6V1G3 EXON Missense_R36Q,Silent exm134879 1 198505831 [A/G] NM_133326,NM_133262 ATP6V1G3,ATP6V1G3 EXON Nonsense_R36X,Silent newrs76330087 1 198505831 [A/G] NM_133326,NM_133262 ATP6V1G3,ATP6V1G3 EXON Nonsense_R36X,Silent exm134881 1 198509731 [T/C] NM_133326,NM_133262 ATP6V1G3,ATP6V1G3 EXON Missense_R17Q,Missense_R17Q exm134882 1 198509732 [A/G] NM_133326,NM_133262 ATP6V1G3,ATP6V1G3 EXON Missense_R17W,Missense_R17W rs16843286 1 198513826 [T/C] rs2359848 1 198520125 [T/G] rs4915303 1 198540028 [T/C] rs16843430 1 198574902 [T/C] exm-rs12127588 1 198595506 [A/G] rs6673408 1 198609305 [A/G] NR_052021,NM_080921,NM_001267798,NM_002838 PTPRC,PTPRC,PTPRC,PTPRC Silent,Silent,Silent,Silent rs6686725 1 198618707 [T/G] NR_052021,NM_080921,NM_001267798,NM_002838 PTPRC,PTPRC,PTPRC,PTPRC Silent,Silent,Silent,Silent rs1326271 1 198619759 [A/G] NR_052021,NM_080921,NM_001267798,NM_002838 PTPRC,PTPRC,PTPRC,PTPRC Silent,Silent,Silent,Silent rs10801677 1 198628483 [A/G] NR_052021,NM_080921,NM_001267798,NM_002838 PTPRC,PTPRC,PTPRC,PTPRC Silent,Silent,Silent,Silent exm2268809 1 198634625 [T/C] NR_052021,NM_080921,NM_001267798,NM_002838 PTPRC,PTPRC,PTPRC,PTPRC Silent,Silent,Silent,Silent rs3767742 1 198634997 [T/C] NR_052021,NM_080921,NM_001267798,NM_002838 PTPRC,PTPRC,PTPRC,PTPRC Silent,Silent,Silent,Silent rs9803750 1 198644124 [T/C] NR_052021,NM_080921,NM_001267798,NM_002838 PTPRC,PTPRC,PTPRC,PTPRC Silent,Silent,Silent,Silent rs2359952 1 198656407 [A/G] NR_052021,NM_080921,NM_001267798,NM_002838 PTPRC,PTPRC,PTPRC,PTPRC Silent,Silent,Silent,Silent variant.9187 1 198665840 [A/G] NM_080921,NM_002838 PTPRC,PTPRC 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 rs16843742 1 198672299 [T/C] NM_080921,NM_002838 PTPRC,PTPRC Silent,Silent 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 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 rs12120762 1 198699793 [T/C] NM_080921,NM_002838 PTPRC,PTPRC Silent,Silent rs7540378 1 198704294 [T/C] NM_080921,NM_002838 PTPRC,PTPRC EXON Synonymous_G611G,Synonymous_G772G exm134996 1 198704313 [A/G] NM_080921,NM_002838 PTPRC,PTPRC EXON Missense_V618I,Missense_V779I rs11589894 1 198705081 [A/G] NM_080921,NM_002838 PTPRC,PTPRC Silent,Silent 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 variant.9188 1 198721906 [A/G] NM_080921,NM_002838 PTPRC,PTPRC Silent,Silent 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 rs7538393 1 198745866 [T/C] rs2784115 1 198751401 [A/G] rs2784103 1 198760554 [T/C] rs10919581 1 198769899 [A/G] rs2784110 1 198780386 [A/G] NR_040073 LOC100131234 Silent rs1575394 1 198785494 [A/G] NR_040073 LOC100131234 Silent rs1359020 1 198790120 [A/G] NR_040073 LOC100131234 Silent rs4141743 1 198807259 [T/C] NR_040073 LOC100131234 Silent rs12042054 1 198807862 [T/C] NR_040073 LOC100131234 Silent rs6701884 1 198837151 [A/G] NR_040073 LOC100131234 Silent rs1007939 1 198844315 [A/C] NR_040073 LOC100131234 Silent rs10800596 1 198845784 [A/G] NR_040073 LOC100131234 Silent rs1322916 1 198876258 [T/C] NR_040073 LOC100131234 Silent rs7540461 1 198876858 [T/C] NR_040073 LOC100131234 Silent rs10919605 1 198898427 [T/C] NR_040073 LOC100131234 Silent rs12047947 1 198915057 [T/C] rs6703089 1 198920036 [A/C] rs7550308 1 198934601 [T/C] rs1892433 1 198961568 [A/G] rs2186188 1 198991093 [A/G] rs12125200 1 198992043 [A/G] rs12756679 1 198995597 [T/G] rs322931 1 199019855 [A/G] rs962793 1 199034906 [A/G] rs16844162 1 199054666 [T/C] rs322904 1 199086009 [T/C] rs322875 1 199102610 [T/C] rs10753846 1 199114986 [A/C] rs3861923 1 199116609 [T/C] rs1471646 1 199134239 [T/C] rs12068990 1 199134987 [T/G] rs975222 1 199136768 [T/C] rs6667273 1 199145557 [A/C] rs6684332 1 199150453 [T/C] rs12088621 1 199174106 [A/G] rs6427760 1 199181905 [T/C] rs12727107 1 199185297 [A/G] rs10800619 1 199193889 [A/G] rs1482659 1 199204697 [T/G] rs1482658 1 199204879 [T/G] rs1325187 1 199217307 [A/C] rs7538098 1 199231736 [T/G] rs9662783 1 199238445 [A/G] exm2265071 1 199238445 [A/G] rs10919655 1 199248661 [A/G] rs6697569 1 199254953 [A/G] rs881576 1 199257785 [A/C] rs12075138 1 199265270 [T/C] rs11579522 1 199266874 [A/G] rs723692 1 199270943 [A/G] exm2268810 1 199274467 [T/C] rs7546413 1 199274467 [T/C] rs1013937 1 199282009 [A/C] rs10800624 1 199291722 [T/C] rs1561144 1 199298683 [T/C] rs645943 1 199316461 [T/C] rs6669877 1 199328001 [T/C] rs576141 1 199329274 [A/G] rs670197 1 199346031 [A/C] rs1898240 1 199347080 [A/G] rs12065723 1 199348842 [A/G] exm-rs16844716 1 199356516 [A/C] rs659503 1 199356619 [A/C] rs1819293 1 199357512 [T/C] rs611739 1 199360836 [A/G] rs571609 1 199362216 [T/C] rs585476 1 199377000 [A/C] rs528227 1 199386880 [T/C] rs16844836 1 199419004 [T/G] rs2184965 1 199424523 [T/C] rs10800628 1 199427140 [A/G] rs6658450 1 199428249 [T/C] rs1590636 1 199433291 [T/C] rs6427769 1 199437760 [T/G] rs12144397 1 199438213 [A/G] exm2268811 1 199441521 [T/C] rs10494793 1 199442312 [A/G] rs12124166 1 199471616 [T/C] rs6683501 1 199486414 [A/G] rs10494797 1 199496362 [T/C] rs2786723 1 199521371 [T/G] rs6691743 1 199531025 [A/G] rs1415661 1 199539063 [T/G] rs2812261 1 199544559 [T/G] rs16845170 1 199557306 [A/G] rs2786738 1 199557772 [T/C] rs4612653 1 199588458 [T/C] rs12725952 1 199593842 [T/C] rs4290087 1 199598783 [A/G] rs4301659 1 199608286 [A/G] rs4369252 1 199610237 [T/G] rs4431873 1 199611059 [A/G] rs4915182 1 199623013 [A/G] rs4623735 1 199629438 [T/G] rs16845384 1 199634402 [T/C] rs16845393 1 199636944 [T/G] rs2435240 1 199690702 [T/C] rs16845432 1 199691414 [T/C] rs2435242 1 199691458 [T/C] rs17655162 1 199707262 [T/C] rs1549712 1 199709386 [A/G] rs35976751 1 199744142 [A/G] rs1366978 1 199778956 [T/C] rs265450 1 199779779 [T/C] rs12027362 1 199792844 [A/G] rs7528943 1 199797615 [T/C] rs6700960 1 199801373 [T/C] rs12096427 1 199822974 [A/G] rs1425791 1 199832023 [A/G] rs10919757 1 199844057 [T/C] rs6656594 1 199864160 [A/G] rs12759783 1 199881715 [A/G] rs6677214 1 199889671 [T/G] rs755556 1 199902929 [A/G] rs1991245 1 199925306 [A/G] rs4915398 1 199926184 [A/G] rs4465241 1 199963622 [T/C] rs4147452 1 199964344 [A/G] rs4244145 1 199971261 [A/G] rs2816939 1 199985700 [T/C] rs9427440 1 199995418 [A/G] exm135099 1 199997003 [T/A] NM_003822,NM_205860 NR5A2,NR5A2 EXON Missense_L10I,Missense_L10I rs2816949 1 199997778 [A/G] NM_003822,NM_205860 NR5A2,NR5A2 Silent,Silent exm2259928 1 199997778 [A/G] NM_003822,NM_205860 NR5A2,NR5A2 Silent,Silent rs3790854 1 200000125 [A/G] NM_003822,NM_205860 NR5A2,NR5A2 Silent,Silent exm-rs3790844 1 200007432 [A/G] NM_003822,NM_205860 NR5A2,NR5A2 Silent,Silent exm2273734 1 200017566 [T/C] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 EXON Missense_P198S,Missense_P244S,Missense_P172S exm135143 1 200017720 [T/C] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 EXON Missense_T249M,Missense_T295M,Missense_T223M rs2821372 1 200021261 [A/G] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2737641 1 200022667 [A/G] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2816913 1 200031107 [T/C] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs10919806 1 200037727 [T/C] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs3828112 1 200042031 [T/C] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2737654 1 200046444 [T/G] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2737665 1 200062389 [A/G] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2816999 1 200066752 [T/C] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2249150 1 200083654 [A/G] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs3762398 1 200090120 [A/G] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2816959 1 200101481 [A/G] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent exm2268812 1 200107578 [T/C] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2737619 1 200107578 [T/C] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs16846145 1 200126772 [A/G] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs3790791 1 200129258 [A/G] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs10494809 1 200132084 [T/C] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs10494810 1 200136582 [A/G] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2246923 1 200139350 [T/C] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs1524163 1 200139792 [A/G] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 Silent,Silent,Silent rs2246209 1 200145533 [A/G] NM_003822,NM_205860,NM_001276464 NR5A2,NR5A2,NR5A2 EXON Silent,Silent,Silent rs4915195 1 200150738 [A/G] exm-rs4551624 1 200151824 [T/C] rs10919830 1 200154474 [A/G] rs12088130 1 200161148 [T/C] rs12562944 1 200162670 [T/C] rs6694617 1 200167658 [A/G] rs10919843 1 200176068 [A/G] rs10919845 1 200178964 [A/C] exm135186 1 200182788 [T/C] exm135192 1 200182970 [A/G] exm135207 1 200183278 [T/C] rs7521914 1 200187645 [T/C] rs7547703 1 200192024 [A/G] rs7526221 1 200192838 [T/G] rs3861927 1 200199414 [T/C] rs10919858 1 200204364 [A/C] rs10919862 1 200221769 [A/G] rs12047019 1 200222777 [A/G] rs10919870 1 200234381 [A/C] rs10919876 1 200247025 [T/C] rs6427814 1 200255788 [A/C] rs34959467 1 200259938 [T/C] rs10429903 1 200261547 [A/G] rs9787012 1 200261628 [T/C] rs2153279 1 200263697 [A/C] rs2790125 1 200285880 [T/C] rs10494812 1 200299440 [A/G] rs7553682 1 200308381 [T/G] rs2790129 1 200324744 [A/G] NR_040064 SMIM16 Silent rs12074726 1 200347489 [T/C] rs12141206 1 200366091 [A/G] rs2790108 1 200369696 [T/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 rs10494814 1 200403095 [T/C] rs7544904 1 200404343 [T/C] rs10919930 1 200417272 [A/C] rs12095036 1 200423841 [A/C] rs12058730 1 200437506 [A/G] rs7546093 1 200450197 [A/C] rs4506486 1 200453320 [T/C] rs7549548 1 200481555 [T/C] rs4418638 1 200481934 [A/G] rs12567052 1 200494416 [A/G] rs7516247 1 200511466 [T/C] 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 rs10919976 1 200529259 [T/C] NM_014875 KIF14 Silent exm135328 1 200529954 [C/G] NM_014875 KIF14 EXON Missense_Q1376E rs7543730 1 200534248 [T/C] NM_014875 KIF14 EXON Synonymous_E1340E 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 newrs151249558 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 rs4504918 1 200557767 [T/C] NM_014875 KIF14 Silent exm135373 1 200558376 [T/C] NM_014875 KIF14 EXON Missense_R1028Q variant.9201 1 200559375 [A/G] NM_014875 KIF14 EXON Nonsense_Q947X exm135380 1 200561238 [T/G] NM_014875 KIF14 EXON Missense_K928T indel.9202 1 200561249 [I/D] NM_014875 KIF14 EXON exm135383 1 200561290 [A/G] NM_014875 KIF14 EXON Missense_S911P rs16846948 1 200561456 [T/C] NM_014875 KIF14 Silent rs10494824 1 200563971 [A/G] NM_014875 KIF14 Silent 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 rs2794410 1 200575794 [A/G] NM_014875 KIF14 Silent 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 var_1_200587093 1 200587094 [I/D] NM_014875 KIF14 EXON indel.9209 1 200587330 [I/D] NM_014875 KIF14 EXON 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 rs2808248 1 200592275 [T/C] rs12744809 1 200593325 [T/C] var_1_200594086 1 200594086 [T/C] newrs139595468 1 200594133 [A/G] rs6695836 1 200611710 [T/C] variant.9212 1 200613522 [A/G] NM_001031725 DDX59 EXON Nonsense_Q574X exm135512 1 200613555 [A/G] NM_001031725 DDX59 EXON Nonsense_R563X indel.9214 1 200617616 [I/D] NM_001031725 DDX59 EXON exm135520 1 200617625 [T/C] NM_001031725 DDX59 EXON Missense_S513N newrs139985556 1 200617644 [A/G] NM_001031725 DDX59 EXON Nonsense_R507X exm135521 1 200617644 [A/G] NM_001031725 DDX59 EXON Nonsense_R507X variant.9216 1 200617647 [A/C] NM_001031725 DDX59 EXON Nonsense_G506X 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 rs16847099 1 200631885 [T/G] NM_001031725 DDX59 Silent 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 rs3806358 1 200639683 [T/G] rs4437908 1 200648439 [A/G] rs6665979 1 200650063 [A/G] rs4378238 1 200652600 [T/C] rs4915451 1 200659854 [T/G] rs7542210 1 200662215 [T/C] exm2268813 1 200672410 [T/G] rs7535122 1 200672699 [A/G] exm-rs7512898 1 200672906 [T/G] rs7519896 1 200692665 [A/G] rs6660197 1 200703541 [T/C] rs10494819 1 200704754 [T/C] rs10920017 1 200707090 [A/G] exm1745665 1 200709059 [A/G] NM_203459 CAMSAP2 EXON Missense_N35S exm135602 1 200709061 [C/G] NM_203459 CAMSAP2 EXON Missense_L36V rs7529518 1 200718422 [T/C] NM_203459 CAMSAP2 Silent rs7520287 1 200750576 [A/G] NM_203459 CAMSAP2 Silent rs6427859 1 200780153 [A/C] NM_203459 CAMSAP2 Silent 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 variant.9218 1 200816336 [A/C] NM_203459 CAMSAP2 Silent 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 1KG_1_200823982 1 200823982 [I/D] NM_203459 CAMSAP2 EXON var_1_200825258 1 200825258 [A/G] NM_203459 CAMSAP2 Silent rs2292096 1 200826769 [A/G] NM_203459 CAMSAP2 Silent exm135738 1 200827126 [A/G] NM_203459 CAMSAP2 EXON Missense_S1459N rs7514015 1 200829992 [T/C] 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 rs2292099 1 200844340 [T/G] rs10800745 1 200849676 [A/G] rs12564878 1 200852820 [A/G] rs6427864 1 200859413 [T/C] rs296533 1 200865768 [T/G] NM_018265,NM_001142569 C1orf106,C1orf106 Silent,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 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 rs296522 1 200881940 [T/C] NM_018265,NM_001142569 C1orf106,C1orf106 Silent,Silent exm135875 1 200882687 [A/G] NM_018265,NM_001142569 C1orf106,C1orf106 EXON Missense_R655Q,Missense_R556Q rs296543 1 200889833 [T/C] exm-rs296547 1 200892137 [T/C] rs296547 1 200892137 [T/C] rs13374187 1 200905049 [A/G] rs296513 1 200906473 [A/G] rs396029 1 200921385 [A/G] rs4915471 1 200934432 [T/C] exm-rs11584383 1 200935866 [T/C] rs10494829 1 200938029 [A/G] exm135882 1 200943291 [A/G] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_P1603S,Silent,Missense_P1616S,Silent exm135883 1 200943861 [A/G] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_H1586Y,Missense_H1586Y,Missense_H1599Y,Missense_H1599Y exm2232198 1 200944710 [T/C] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_A1498T,Missense_A1498T,Missense_A1511T,Missense_A1511T exm135908 1 200945956 [A/G] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_T1451M,Missense_T1451M,Missense_T1464M,Missense_T1464M exm1745805 1 200956152 [T/C] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_V1196I,Missense_V1196I,Missense_V1196I,Missense_V1196I exm2275362 1 200957662 [A/G] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Synonymous_Y1103Y,Synonymous_Y1103Y,Synonymous_Y1103Y,Synonymous_Y1103Y exm135989 1 200959266 [T/C] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Synonymous_K1010K,Synonymous_K1010K,Synonymous_K1010K,Synonymous_K1010K exm2250472 1 200959302 [A/G] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Synonymous_D998D,Synonymous_D998D,Synonymous_D998D,Synonymous_D998D exm1745813 1 200959760 [T/C] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_V927I,Missense_V927I,Missense_V927I,Missense_V927I exm136011 1 200960091 [A/T] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_L881M,Missense_L881M,Missense_L881M,Missense_L881M exm136015 1 200960180 [A/G] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_S851L,Missense_S851L,Missense_S851L,Missense_S851L exm136016 1 200960204 [A/G] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_M843T,Missense_M843T,Missense_M843T,Missense_M843T exm136020 1 200960225 [T/C] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_R836H,Missense_R836H,Missense_R836H,Missense_R836H exm-rs2297909 1 200960307 [A/G] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B Silent,Silent,Silent,Silent exm136028 1 200961441 [A/G] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_A785V,Missense_A785V,Missense_A785V,Missense_A785V rs10800750 1 200964578 [A/G] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B Silent,Silent,Silent,Silent exm136055 1 200967638 [T/C] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_D651N,Missense_D651N,Missense_D651N,Missense_D651N exm136090 1 200971329 [G/C] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_Q454H,Missense_Q454H,Missense_Q454H,Missense_Q454H rs10920090 1 200972454 [T/C] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B Silent,Silent,Silent,Silent exm136134 1 200974729 [T/C] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_N181D,Missense_N181D,Missense_N181D,Missense_N181D rs10920091 1 200975064 [A/G] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B Silent,Silent,Silent,Silent exm136143 1 200977949 [T/C] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_Q132R,Missense_Q132R,Missense_Q132R,Missense_Q132R exm2250473 1 200977990 [T/G] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Synonymous_A118A,Synonymous_A118A,Synonymous_A118A,Synonymous_A118A exm136153 1 200978030 [A/G] NM_017596,NM_001252103,NM_001252100,NM_001252102 KIF21B,KIF21B,KIF21B,KIF21B EXON Missense_T105M,Missense_T105M,Missense_T105M,Missense_T105M rs12081096 1 200998358 [A/G] rs10920099 1 201003606 [A/G] 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 rs1546416 1 201009556 [A/G] NM_000069 CACNA1S Silent 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 rs3767498 1 201020727 [A/G] NM_000069 CACNA1S Silent 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 rs3767503 1 201025682 [A/C] NM_000069 CACNA1S Silent variant.9244 1 201027536 [A/G] NM_000069 CACNA1S EXON Synonymous_D1203D 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 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 rs9427712 1 201041198 [A/G] NM_000069 CACNA1S Silent exm136370 1 201042735 [A/G] NM_000069 CACNA1S EXON Missense_T700M rs2296386 1 201042983 [A/G] NM_000069 CACNA1S Silent exm136374 1 201043649 [T/C] NM_000069 CACNA1S EXON Missense_R683H rs3767508 1 201044097 [T/C] NM_000069 CACNA1S Silent var_1_201044622 1 201044622 [T/C] NM_000069 CACNA1S Silent 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 rs942705 1 201050046 [T/C] NM_000069 CACNA1S Silent rs3767511 1 201052199 [T/C] NM_000069 CACNA1S Silent 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 rs6699862 1 201068298 [T/C] NM_000069 CACNA1S Silent rs1325311 1 201079088 [A/G] NM_000069 CACNA1S Silent exm136514 1 201079344 [C/G] NM_000069 CACNA1S EXON Missense_A69G variant.9255 1 201081449 [A/G] NM_000069 CACNA1S EXON Nonsense_Q7X rs2281845 1 201081943 [T/C] rs3738262 1 201083343 [A/G] NM_001270601 ASCL5 EXON Silent rs12079819 1 201085420 [A/G] rs10753889 1 201092550 [A/G] exm2264943 1 201100482 [A/G] rs6693143 1 201105488 [A/G] NM_016456 TMEM9 Silent rs7545363 1 201112204 [A/G] NM_016456 TMEM9 Silent rs3752978 1 201115822 [A/G] NM_016456 TMEM9 Silent rs3767514 1 201117133 [T/C] NM_016456 TMEM9 Silent rs7542768 1 201125326 [T/C] rs831748 1 201133955 [T/C] rs6699983 1 201137527 [A/G] rs1122396 1 201138428 [A/G] rs2066284 1 201143774 [T/C] rs16847947 1 201150096 [T/C] rs10920139 1 201155654 [T/C] rs831750 1 201159461 [T/C] 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 rs17508253 1 201164764 [T/C] NM_001164586 IGFN1 Silent rs7533096 1 201166281 [T/C] NM_001164586 IGFN1 Silent exm136571 1 201166383 [A/G] NM_001164586 IGFN1 EXON Missense_R102H rs2365299 1 201169554 [T/G] NM_001164586 IGFN1 Silent exm136595 1 201172932 [T/C] NM_001164586 IGFN1 EXON Missense_R272C exm136604 1 201174312 [C/G] NM_001164586 IGFN1 EXON Missense_A340G rs832156 1 201175227 [A/C] NM_001164586 IGFN1 EXON Missense_D402E 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 indel.9261 1 201176267 [I/D] NM_001164586 IGFN1 EXON 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 rs7551098 1 201177278 [T/C] NM_001164586 IGFN1 EXON Missense_A1086V 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 indel.9266 1 201178454 [D/I] NM_001164586 IGFN1 EXON 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 variant.9267 1 201182235 [A/G] NM_001164586 IGFN1 EXON Nonsense_W2738X 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 rs3738270 1 201195119 [T/C] NM_001164586 IGFN1 EXON Missense_H3552Y 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 rs3738274 1 201197676 [A/G] NM_001164586 IGFN1 EXON Silent rs14061 1 201197781 [T/C] NM_001164586 IGFN1 EXON Silent rs1917348 1 201202490 [T/C] rs10920155 1 201217148 [T/C] rs6427893 1 201218342 [A/G] rs2078570 1 201233751 [T/C] rs4244148 1 201235047 [T/C] rs4915501 1 201239651 [T/C] rs16848196 1 201244429 [T/C] exm137054 1 201252984 [A/C] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_Q52K,Missense_Q52K rs832170 1 201257016 [A/G] NM_000299,NM_001005337 PKP1,PKP1 Silent,Silent rs832174 1 201258519 [A/T] NM_000299,NM_001005337 PKP1,PKP1 Silent,Silent exm-rs860554 1 201262432 [T/C] NM_000299,NM_001005337 PKP1,PKP1 Silent,Silent exm137058 1 201263108 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_G81R,Missense_G81R exm137060 1 201263130 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_Y88C,Missense_Y88C exm137064 1 201263173 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Synonymous_P102P,Synonymous_P102P rs2300293 1 201264902 [T/C] NM_000299,NM_001005337 PKP1,PKP1 Silent,Silent rs713292 1 201265770 [T/C] NM_000299,NM_001005337 PKP1,PKP1 Silent,Silent rs1772847 1 201278862 [T/G] NM_000299,NM_001005337 PKP1,PKP1 Silent,Silent rs832151 1 201280956 [T/C] NM_000299,NM_001005337 PKP1,PKP1 Silent,Silent exm137069 1 201282334 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_R116H,Missense_R116H exm137073 1 201282405 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_A140T,Missense_A140T exm137076 1 201282447 [T/C] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_R154C,Missense_R154C exm137077 1 201282469 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_C161Y,Missense_C161Y exm137078 1 201282478 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_R164Q,Missense_R164Q exm137081 1 201282531 [A/C] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_N182H,Missense_N182H exm137082 1 201282573 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_I196V,Missense_I196V exm137085 1 201282592 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_R202H,Missense_R202H rs7514146 1 201285712 [T/C] NM_000299,NM_001005337 PKP1,PKP1 EXON Synonymous_L245L,Synonymous_L245L exm137112 1 201287793 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_I368V,Missense_I368V exm137115 1 201287820 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_D377N,Missense_D377N exm137118 1 201287853 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_D388N,Missense_D388N exm137123 1 201288955 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_G415D,Silent exm137125 1 201288982 [A/C] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_P424Q,Silent exm137131 1 201289411 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_D438N,Missense_D417N exm137136 1 201289495 [T/C] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_R466C,Missense_R445C exm137138 1 201289498 [T/C] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_C467R,Missense_C446R exm137149 1 201291196 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_A501T,Missense_A480T exm2232237 1 201291197 [T/C] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_A501V,Missense_A480V exm137151 1 201291209 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_Y505C,Missense_Y484C rs1772833 1 201291551 [A/G] NM_000299,NM_001005337 PKP1,PKP1 Silent,Silent exm137159 1 201292195 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_G541S,Missense_G520S exm137160 1 201292223 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_R550H,Missense_R529H rs10920173 1 201292473 [T/G] NM_000299,NM_001005337 PKP1,PKP1 Silent,Silent rs1543805 1 201292794 [A/G] NM_000299,NM_001005337 PKP1,PKP1 Silent,Silent exm137164 1 201293617 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_R602H,Missense_R581H exm137177 1 201294129 [A/C] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_N653T,Missense_N632T exm137183 1 201294893 [A/T] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_K699M,Missense_K678M exm137184 1 201294910 [T/C] NM_000299,NM_001005337 PKP1,PKP1 EXON Missense_R705W,Missense_R684W exm2273345 1 201299263 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Silent,Silent rs1105331 1 201299852 [A/G] NM_000299,NM_001005337 PKP1,PKP1 EXON Silent,Silent rs12126907 1 201312033 [A/G] rs7540834 1 201325462 [T/C] rs2275864 1 201328095 [A/G] exm137198 1 201328373 [A/G] NM_001001431,NM_001276346,NM_001276345,NM_001276347,NM_001001432,NM_000364,NM_001001430 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_R275C,Missense_R245C,Missense_R288C,Missense_R278C,Missense_R272C,Missense_R285C,Missense_R278C exm137208 1 201330429 [T/C] NM_001001431,NM_001276346,NM_001276345,NM_001276347,NM_001001432,NM_000364,NM_001001430 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_K250R,Missense_K220R,Missense_K263R,Missense_K253R,Missense_K247R,Missense_K260R,Missense_K253R exm137211 1 201330455 [A/C] NM_001001431,NM_001276346,NM_001276345,NM_001276347,NM_001001432,NM_000364,NM_001001430 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_E241D,Missense_E211D,Missense_E254D,Missense_E244D,Missense_E238D,Missense_E251D,Missense_E244D exm137215 1 201331068 [A/G] NM_001001431,NM_001276346,NM_001276345,NM_001276347,NM_001001432,NM_000364,NM_001001430 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_I218T,Missense_I188T,Missense_I231T,Missense_I221T,Missense_I215T,Missense_I228T,Missense_I221T exm137216 1 201331147 [T/C] NM_001001431,NM_001276346,NM_001276345,NM_001276347,NM_001001432,NM_000364,NM_001001430 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_E192K,Missense_E162K,Missense_E205K,Missense_E195K,Missense_E189K,Missense_E202K,Missense_E195K variant.9302 1 201331523 [T/C] NM_001001431,NM_001276346,NM_001276345,NM_001276347,NM_001001432,NM_000364,NM_001001430 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 Silent,Silent,Silent,Silent,Silent,Silent,Silent variant.9303 1 201332519 [A/G] NM_001001431,NM_001276346,NM_001276345,NM_001276347,NM_001001432,NM_000364,NM_001001430 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Nonsense_R159X,Nonsense_R129X,Nonsense_R169X,Nonsense_R159X,Nonsense_R154X,Nonsense_R169X,Nonsense_R159X rs3729547 1 201334382 [A/G] NM_001001431,NM_001276346,NM_001276345,NM_001276347,NM_001001432,NM_000364,NM_001001430 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Synonymous_I106I,Silent,Synonymous_I116I,Synonymous_I106I,Synonymous_I101I,Synonymous_I116I,Synonymous_I106I exm137240 1 201335991 [T/C] NM_001001431,NM_001276346,NM_001276345,NM_001276347,NM_001001432,NM_000364,NM_001001430 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_M60V,Missense_M69V,Missense_M70V,Missense_M60V,Missense_M55V,Missense_M70V,Missense_M60V exm137246 1 201337340 [A/G] NM_001001431,NM_001276346,NM_001276345,NM_001276347,NM_001001432,NM_000364,NM_001001430 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 EXON Missense_A28V,Missense_A38V,Missense_A38V,Missense_A28V,Missense_A23V,Missense_A38V,Missense_A28V rs6427901 1 201340813 [A/G] NM_001001431,NM_001276346,NM_001276345,NM_001276347,NM_001001432,NM_000364,NM_001001430 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2996494 1 201343638 [A/G] NM_001001431,NM_001276346,NM_001276345,NM_001276347,NM_001001432,NM_000364,NM_001001430 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs947485 1 201345352 [A/G] NM_001001431,NM_001276346,NM_001276345,NM_001276347,NM_001001432,NM_000364,NM_001001430 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12564445 1 201345487 [A/G] NM_001001431,NM_001276346,NM_001276345,NM_001276347,NM_001001432,NM_000364,NM_001001430 TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2,TNNT2 Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2799691 1 201348343 [T/C] 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 indel.9310 1 201353944 [I/D] NM_005558 LAD1 EXON 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 rs2799677 1 201355943 [T/C] NM_005558 LAD1 EXON Synonymous_K182K exm137346 1 201355995 [T/C] NM_005558 LAD1 EXON Missense_E165G 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 rs2799680 1 201374677 [A/C] NM_003281 TNNI1 EXON Silent variant.9315 1 201380485 [T/C] NM_003281 TNNI1 EXON Synonymous_K152K exm137423 1 201382228 [T/C] NM_003281 TNNI1 EXON Missense_A71T exm137435 1 201383725 [T/C] NM_003281 TNNI1 EXON Missense_R37H rs1819291 1 201385061 [T/C] NM_003281 TNNI1 Silent exm2250477 1 201386916 [T/C] NM_003281 TNNI1 EXON Synonymous_P2P rs10800777 1 201400088 [T/G] rs6697016 1 201407782 [T/G] rs10494830 1 201415592 [A/G] rs7525711 1 201419375 [A/G] rs10920205 1 201422201 [A/G] rs12090950 1 201429381 [A/G] 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 rs654072 1 201439473 [A/G] rs3753993 1 201440012 [T/C] rs1256929 1 201441734 [A/G] exm137476 1 201453861 [A/C] NM_004078,NM_001193571,NM_001193570,NM_001193572 CSRP1,CSRP1,CSRP1,CSRP1 EXON Missense_A188S,Missense_A188S,Missense_A182S,Missense_A188S exm137490 1 201458062 [A/T] NM_004078,NM_001193571,NM_001193570,NM_001193572 CSRP1,CSRP1,CSRP1,CSRP1 EXON Missense_Q111L,Missense_Q111L,Missense_Q111L,Missense_Q111L exm137491 1 201458071 [A/T] NM_004078,NM_001193571,NM_001193570,NM_001193572 CSRP1,CSRP1,CSRP1,CSRP1 EXON Missense_K108I,Missense_K108I,Missense_K108I,Missense_K108I rs495886 1 201461809 [A/G] NM_004078,NM_001193571,NM_001193570,NM_001193572 CSRP1,CSRP1,CSRP1,CSRP1 Silent,Silent,Silent,Silent variant.9323 1 201465320 [T/C] NM_004078,NM_001193571,NM_001193570,NM_001193572 CSRP1,CSRP1,CSRP1,CSRP1 EXON Missense_M38V,Missense_M38V,Missense_M38V,Missense_M38V exm137512 1 201465350 [T/C] NM_004078,NM_001193571,NM_001193570,NM_001193572 CSRP1,CSRP1,CSRP1,CSRP1 EXON Missense_N28D,Missense_N28D,Missense_N28D,Missense_N28D newrs142986141 1 201465361 [T/G] NM_004078,NM_001193571,NM_001193570,NM_001193572 CSRP1,CSRP1,CSRP1,CSRP1 EXON Missense_Q24P,Missense_Q24P,Missense_Q24P,Missense_Q24P rs2210733 1 201474400 [A/G] NM_004078,NM_001193571,NM_001193570 CSRP1,CSRP1,CSRP1 Silent,Silent,Silent rs2038972 1 201475727 [A/C] NM_004078,NM_001193571,NM_001193570 CSRP1,CSRP1,CSRP1 Silent,Silent,Silent exm-rs10800786 1 201480660 [A/G] rs12728629 1 201486564 [T/C] rs4915537 1 201500825 [T/C] rs11577209 1 201517349 [A/G] rs654897 1 201530119 [T/C] rs2205595 1 201540509 [T/C] rs11583215 1 201545999 [T/G] rs544127 1 201550615 [T/G] rs545372 1 201561620 [T/C] rs609391 1 201564909 [T/C] rs621662 1 201571927 [T/C] rs1555936 1 201586129 [T/C] rs679352 1 201603081 [T/G] rs10920222 1 201605716 [A/C] rs631225 1 201607272 [T/C] rs7364578 1 201616627 [A/G] rs1736450 1 201616835 [T/C] 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 rs967392 1 201623215 [A/C] NM_020443 NAV1 Silent rs664896 1 201628990 [T/C] NM_020443 NAV1 Silent rs12045814 1 201636724 [A/G] NM_020443 NAV1 Silent rs525492 1 201638858 [A/G] NM_020443 NAV1 Silent rs10800790 1 201644752 [A/G] NM_020443 NAV1 Silent rs3000763 1 201651484 [T/C] NM_020443 NAV1 Silent rs602668 1 201657709 [T/C] NM_020443 NAV1 Silent rs1317704 1 201661705 [A/G] NM_020443 NAV1 Silent rs606114 1 201664101 [T/C] NM_020443 NAV1 Silent rs675141 1 201680451 [A/G] NM_020443 NAV1 Silent rs10920236 1 201684221 [A/G] NM_020443 NAV1 Silent rs239967 1 201692871 [A/G] NM_020443 NAV1 Silent rs4950838 1 201705650 [T/C] NM_020443 NAV1 Silent rs12026046 1 201708422 [A/G] NM_020443 NAV1 Silent rs4950846 1 201711704 [A/G] NM_020443,NM_001167738 NAV1,NAV1 Silent,Silent rs650720 1 201749156 [T/G] NM_020443,NM_001167738,NR_046945 NAV1,NAV1,RNU6-79 Silent,Silent,Silent 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 rs481530 1 201763912 [T/C] NM_020443,NM_001167738,NR_046945 NAV1,NAV1,RNU6-79 Silent,Silent,Silent rs2678209 1 201770929 [A/G] NM_020443,NM_001167738 NAV1,NAV1 Silent,Silent rs4379719 1 201775746 [A/G] NM_020443,NM_001167738 NAV1,NAV1 Silent,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 rs1022361 1 201790270 [A/G] NM_020443,NM_001167738 NAV1,NAV1 EXON Silent,Silent rs1032524 1 201790826 [T/C] NM_020443,NM_001167738 NAV1,NAV1 EXON Silent,Silent rs10920260 1 201800582 [T/G] NM_018085 IPO9 Silent rs2820295 1 201800868 [A/G] NM_018085 IPO9 Silent rs12562614 1 201814994 [A/G] NM_018085 IPO9 Silent 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 rs950114 1 201840210 [T/C] NM_018085 IPO9 Silent 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 rs8028 1 201865763 [A/G] NM_012134 LMOD1 EXON 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 rs2819348 1 201884952 [T/C] NM_012134 LMOD1 Silent rs2047264 1 201886402 [A/G] NM_012134 LMOD1 Silent rs1390398 1 201891254 [A/C] NM_012134 LMOD1 Silent rs16849442 1 201892257 [A/G] NM_012134 LMOD1 Silent rs2820327 1 201904589 [T/C] NM_012134 LMOD1 Silent 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 rs2820304 1 201918527 [T/G] exm137966 1 201926422 [A/G] NM_006335 TIMM17A EXON Missense_V14M rs2819376 1 201931219 [A/C] NM_006335 TIMM17A Silent exm137983 1 201934578 [A/G] NM_006335 TIMM17A EXON Missense_V113I exm137985 1 201934590 [A/G] NM_006335 TIMM17A EXON Missense_A117T rs12090635 1 201936324 [A/G] NM_006335 TIMM17A Silent exm137989 1 201938669 [A/G] NM_006335 TIMM17A EXON Missense_R168Q rs7513 1 201938995 [T/C] NM_006335 TIMM17A EXON Silent rs4950806 1 201952574 [T/C] NM_020216 RNPEP Silent rs6689324 1 201954697 [T/C] NM_020216 RNPEP Silent rs6689634 1 201954987 [T/C] NM_020216 RNPEP Silent exm138002 1 201958031 [C/G] NM_020216 RNPEP Silent indel.9335 1 201958121 [D/I] NM_020216 RNPEP EXON exm138012 1 201958607 [T/C] NM_020216 RNPEP EXON Missense_Y229H rs16849483 1 201959455 [T/G] NM_020216 RNPEP Silent rs12734984 1 201959490 [T/C] NM_020216 RNPEP Silent exm138018 1 201965317 [T/G] NM_020216 RNPEP EXON Missense_K260N newrs142043234 1 201965321 [T/G] NM_020216 RNPEP EXON Nonsense_E262X exm138022 1 201965336 [A/G] NM_020216 RNPEP EXON Missense_I267V variant.9338 1 201965342 [T/G] NM_020216 RNPEP EXON Nonsense_E269X 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 rs4131469 1 201970748 [A/G] NM_020216 RNPEP Silent exm138055 1 201970787 [C/G] NM_020216 RNPEP EXON Missense_A440P variant.9339 1 201970811 [T/C] NM_020216 RNPEP EXON Nonsense_R448X exm138057 1 201970817 [A/G] NM_020216 RNPEP EXON Missense_I450V indel.9340 1 201970875 [D/I] NM_020216 RNPEP EXON newrs149489527 1 201972364 [T/G] NM_020216 RNPEP Silent exm138066 1 201972448 [C/G] NM_020216 RNPEP EXON Missense_P504A exm138067 1 201972494 [T/C] NM_020216 RNPEP EXON Missense_M519T rs3820439 1 201973565 [A/G] NM_020216 RNPEP EXON Missense_V579I 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 rs12756809 1 201986418 [A/C] rs10920308 1 201996215 [A/C] rs12731187 1 202013757 [T/C] rs10920315 1 202027170 [T/C] rs9427477 1 202032235 [T/G] exm2268814 1 202034271 [T/C] rs9427727 1 202038945 [T/C] rs12724599 1 202045541 [T/C] rs9427478 1 202045985 [T/G] rs7535074 1 202052416 [T/C] rs4576706 1 202066564 [A/G] rs4950826 1 202077927 [A/C] rs4245703 1 202078075 [T/C] rs12745308 1 202079202 [A/G] exm2263868 1 202081212 [A/C] rs4436441 1 202087936 [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 rs6701064 1 202093735 [T/G] NM_004767 GPR37L1 Silent rs4950769 1 202094593 [A/G] NM_004767 GPR37L1 Silent rs4376792 1 202095590 [T/C] NM_004767 GPR37L1 Silent 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_138795,NM_001256129 ARL8A,ARL8A EXON Synonymous_N169N,Missense_H147Y rs16849710 1 202106797 [A/G] NM_138795,NM_001256129 ARL8A,ARL8A Silent,Silent rs4950830 1 202107627 [A/G] NM_138795,NM_001256129 ARL8A,ARL8A Silent,Silent rs9077 1 202116238 [A/G] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Silent,Silent,Silent exm1746520 1 202119482 [T/C] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Missense_E421K,Missense_E355K,Missense_E390K exm138278 1 202119514 [T/C] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Missense_R410Q,Missense_R344Q,Missense_R379Q exm138279 1 202119515 [A/G] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Nonsense_R410X,Nonsense_R344X,Nonsense_R379X rs10920337 1 202121643 [A/G] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 Silent,Silent,Silent,Silent,Silent exm138286 1 202121683 [T/C] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Missense_V393I,Missense_V327I,Missense_V362I exm138293 1 202121815 [A/G] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Missense_R349C,Missense_R283C,Missense_R318C exm138299 1 202122865 [G/C] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Missense_Q340H,Missense_Q274H,Missense_Q309H exm138302 1 202122956 [A/C] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Missense_V310G,Missense_V244G,Missense_V279G exm138309 1 202124711 [A/G] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Missense_R245W,Missense_R179W,Missense_R214W exm138313 1 202126900 [T/C] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Missense_A225T,Missense_A159T,Missense_A194T exm138317 1 202127295 [A/G] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Missense_A191V,Missense_A125V,Missense_A160V variant.9356 1 202127432 [A/G] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 Silent,Silent,Silent,Silent,Silent exm138325 1 202128421 [T/C] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Missense_R142Q,Missense_R76Q,Missense_R111Q exm2276852 1 202128422 [A/G] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Nonsense_R142X,Nonsense_R76X,Nonsense_R111X exm2273735 1 202128454 [A/G] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Missense_P131L,Missense_P65L,Missense_P100L exm138333 1 202128508 [T/C] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Missense_R113H,Missense_R47H,Missense_R82H exm138344 1 202128601 [T/C] NR_037663,NR_037664,NM_002832,NM_080588,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Silent,Missense_R16Q,Silent exm138358 1 202129895 [A/G] NR_037663,NR_037664,NM_002832,NM_001199797 PTPN7,PTPN7,PTPN7,PTPN7 EXON Silent,Silent,Missense_T14M,Silent rs3934648 1 202130754 [T/C] rs6660999 1 202131108 [A/G] rs12737056 1 202132777 [T/G] rs3935008 1 202138239 [T/C] NR_002930 PTPRVP Silent rs10800821 1 202146014 [T/C] NR_002930 PTPRVP Silent rs10920357 1 202151566 [A/G] NR_002930 PTPRVP Silent rs10920358 1 202152129 [T/C] NR_002930 PTPRVP Silent rs2993446 1 202161644 [T/C] 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 rs10920364 1 202186178 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent rs10920365 1 202189711 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent rs2993433 1 202190742 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent rs2993437 1 202193981 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent 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 rs3010077 1 202228042 [A/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent rs2993444 1 202239771 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent 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 rs788827 1 202266547 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent rs788826 1 202266607 [T/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent exm1746588 1 202270005 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 EXON Missense_I272V,Missense_I220V,Missense_I133V variant.9362 1 202270290 [A/C] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent 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 rs705766 1 202279709 [A/G] NM_001017403,NM_021636,NM_001017404 LGR6,LGR6,LGR6 Silent,Silent,Silent 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 rs705731 1 202298894 [T/C] rs4079028 1 202299085 [T/C] variant.9368 1 202301004 [A/G] NM_014176 UBE2T EXON Nonsense_Q185X newrs149154798 1 202302658 [A/G] NM_014176 UBE2T EXON Nonsense_R69X exm138597 1 202304124 [G/C] NM_014176 UBE2T EXON Missense_P58A variant.9371 1 202304769 [T/C] NM_014176 UBE2T Silent 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_002481,NM_001167857,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_R55H,Missense_R55H,Missense_R55H kgp642972 1 202318316 [A/C] NM_002481,NM_001167857,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B Silent,Silent,Silent kgp10274587 1 202318750 [T/C] NM_002481,NM_001167857,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B Silent,Silent,Silent exm2232265 1 202385947 [T/G] NM_002481,NM_001167857,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_K108N,Missense_K108N,Missense_K108N exm138625 1 202391786 [A/G] NM_002481,NM_001167857,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_N154S,Missense_N154S,Missense_N154S exm138642 1 202398019 [A/G] NM_002481,NM_001167857,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_V295M,Missense_V295M,Missense_V295M exm2277017 1 202399880 [T/C] NM_002481,NM_001167857,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_R315W,Missense_R315W,Missense_R315W exm2250484 1 202403794 [A/G] NM_002481,NM_001167857,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Synonymous_P384P,Synonymous_P384P,Silent exm138651 1 202403808 [A/G] NM_002481,NM_001167857,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_N389S,Missense_N389S,Silent exm138658 1 202403889 [T/C] NM_002481,NM_001167857,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_A416V,Missense_A416V,Silent newrs145788822 1 202403897 [T/G] NM_002481,NM_001167857,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B Silent,Silent,Silent rs2741853 1 202405671 [A/G] NM_002481,NM_001167857,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B Silent,Silent,Silent exm138661 1 202406951 [A/C] NM_002481,NM_001167857,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_F419L,Missense_F419L,Missense_L382I exm138662 1 202406961 [G/C] NM_002481,NM_001167857,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_L423V,Missense_L423V,Missense_P385R exm138666 1 202407076 [A/T] NM_002481,NM_001167857,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON Missense_I461K,Missense_I461K,Silent indel.9374 1 202407172 [D/I] NM_002481,NM_001167857,NM_001167858 PPP1R12B,PPP1R12B,PPP1R12B EXON newrs112006906 1 202409841 [I/D] NM_002481 PPP1R12B EXON exm138672 1 202409874 [A/G] NM_002481 PPP1R12B EXON Missense_R500Q exm138673 1 202409904 [A/G] NM_002481 PPP1R12B EXON Missense_E510G variant.9376 1 202409921 [T/C] NM_002481 PPP1R12B Silent exm138680 1 202411679 [A/G] NM_002481 PPP1R12B EXON Missense_Y549C rs2741855 1 202411738 [T/C] NM_002481 PPP1R12B Silent 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 variant.9378 1 202531902 [A/G] NM_002481,NM_032104,NM_032103,NM_001197131 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B Silent,Silent,Silent,Silent 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 variant.9379 1 202536906 [T/C] NM_002481,NM_032104,NM_032103,NM_001197131 PPP1R12B,PPP1R12B,PPP1R12B,PPP1R12B EXON Nonsense_Q920X,Nonsense_Q146X,Nonsense_Q146X,Nonsense_Q124X 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 rs1040010 1 202560412 [T/C] NM_001136504,NM_177402 SYT2,SYT2 EXON Silent,Silent rs12033827 1 202564040 [A/C] NM_001136504,NM_177402 SYT2,SYT2 EXON Silent,Silent rs4520471 1 202564221 [A/G] NM_001136504,NM_177402 SYT2,SYT2 EXON Silent,Silent rs9633344 1 202566200 [T/C] NM_001136504,NM_177402 SYT2,SYT2 Silent,Silent exm138772 1 202568417 [T/C] NM_001136504,NM_177402 SYT2,SYT2 EXON Missense_V328M,Missense_V328M rs585658 1 202573179 [T/C] NM_001136504,NM_177402 SYT2,SYT2 Silent,Silent exm138802 1 202573729 [T/C] NM_001136504,NM_177402 SYT2,SYT2 EXON Missense_A67T,Missense_A67T rs12409084 1 202602566 [A/C] NM_001136504,NM_177402 SYT2,SYT2 Silent,Silent rs12354333 1 202604386 [A/G] NM_001136504,NM_177402 SYT2,SYT2 Silent,Silent rs867316 1 202618202 [T/C] NM_177402 SYT2 Silent rs10737582 1 202623455 [A/G] NM_177402 SYT2 Silent rs4950866 1 202643007 [A/G] NM_177402 SYT2 Silent rs6698441 1 202652939 [T/C] NM_177402 SYT2 Silent rs4362037 1 202662356 [A/C] NM_177402 SYT2 Silent rs4364933 1 202675543 [A/G] NM_177402 SYT2 Silent rs7529811 1 202688077 [A/G] rs4950740 1 202695165 [A/G] 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 variant.9382 1 202699056 [A/G] NM_006618 KDM5B EXON Nonsense_R1426X 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 variant.9383 1 202710495 [T/C] NM_006618 KDM5B EXON Missense_R982K variant.9385 1 202710621 [T/C] NM_006618 KDM5B EXON Missense_R940H exm138892 1 202710706 [T/C] NM_006618 KDM5B EXON Missense_I912V exm138893 1 202710733 [G/C] NM_006618 KDM5B EXON Missense_E903Q variant.9388 1 202711514 [A/G] NM_006618 KDM5B Silent exm138900 1 202711593 [T/C] NM_006618 KDM5B EXON Missense_V839M exm138901 1 202711625 [T/G] NM_006618 KDM5B EXON Missense_S828Y newrs56042155 1 202711778 [A/C] NM_006618 KDM5B Silent variant.9392 1 202711782 [T/C] NM_006618 KDM5B Silent 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 variant.9395 1 202719900 [A/G] NM_006618 KDM5B EXON Nonsense_R570X exm138942 1 202724559 [T/C] NM_006618 KDM5B EXON Missense_N460D exm138944 1 202725509 [T/C] NM_006618 KDM5B EXON Missense_I445V rs3196669 1 202733238 [T/C] NM_006618 KDM5B EXON Synonymous_T249T rs4351714 1 202760658 [T/C] NM_006618 KDM5B Silent rs6427967 1 202765279 [T/C] NM_006618 KDM5B Silent rs2275895 1 202780530 [T/C] NR_046325,NR_046326 KDM5B-AS1,KDM5B-AS1 Silent,Silent rs2246083 1 202781164 [A/G] rs12139944 1 202794787 [T/C] NR_038135 LOC641515 EXON Silent rs10753921 1 202795831 [A/G] rs4950949 1 202810562 [T/C] rs2298261 1 202826538 [T/C] rs6663182 1 202827191 [A/G] rs11590469 1 202843127 [T/C] NR_002929 LOC148709 EXON Silent rs6703138 1 202847719 [A/G] NM_002871 RABIF EXON Silent rs1131906 1 202849723 [A/G] NM_002871 RABIF EXON Silent newrs146254234 1 202850123 [A/G] NM_002871 RABIF EXON Nonsense_R119X rs4950887 1 202870330 [T/C] NM_021633 KLHL12 Silent rs6686801 1 202874730 [T/C] NM_021633 KLHL12 Silent rs9919219 1 202877397 [T/C] NM_021633 KLHL12 Silent exm139058 1 202887337 [T/C] NM_021633 KLHL12 EXON Missense_G177R variant.9400 1 202889037 [A/C] NM_021633 KLHL12 Silent rs10800880 1 202892917 [T/C] NM_021633 KLHL12 Silent exm139068 1 202894165 [T/G] NM_021633 KLHL12 EXON Missense_K42N rs2363772 1 202899361 [A/C] exm2250487 1 202911267 [C/G] NR_046083,NM_015999 ADIPOR1,ADIPOR1 EXON Silent,Synonymous_T295T rs16850799 1 202919851 [A/G] NR_046083,NM_015999 ADIPOR1,ADIPOR1 Silent,Silent rs10494839 1 202922194 [T/C] NR_046083,NM_015999 ADIPOR1,ADIPOR1 Silent,Silent rs10920532 1 202925256 [A/G] NR_046083,NM_015999 ADIPOR1,ADIPOR1 Silent,Silent rs7514221 1 202926513 [T/C] NR_046083,NM_015999 ADIPOR1,ADIPOR1 Silent,Silent rs2232851 1 202932154 [A/G] NM_016243 CYB5R1 Silent 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 rs2363769 1 202940810 [A/C] rs12123211 1 202944639 [A/G] rs16850840 1 202948507 [A/G] rs2363770 1 202948992 [A/G] rs782810 1 202957351 [A/G] NR_036557 LOC401980 Silent rs10800895 1 202969332 [A/G] NR_036557 LOC401980 Silent rs1361734 1 202974481 [A/G] NR_036557 LOC401980 Silent rs11582753 1 202983294 [A/G] NM_138391,NM_001079809 TMEM183A,TMEM183B Silent,Silent exm139184 1 202984028 [A/G] NM_138391,NM_001079809 TMEM183A,TMEM183B EXON Missense_G127R,Missense_G127R rs1774847 1 202994268 [T/C] rs782791 1 202998819 [A/G] rs782802 1 203005821 [T/C] rs754894 1 203017087 [T/C] exm139266 1 203020973 [T/C] NM_015053 PPFIA4 EXON Missense_R24C rs4950876 1 203021807 [A/G] NM_015053 PPFIA4 Silent rs2291691 1 203023122 [A/C] NM_015053 PPFIA4 Silent exm139294 1 203024756 [T/C] NM_015053 PPFIA4 EXON Missense_R170C rs12097602 1 203025428 [A/G] NM_015053 PPFIA4 Silent exm1746969 1 203025635 [A/G] NM_015053 PPFIA4 EXON Missense_S241G variant.9413 1 203025910 [A/G] NM_015053 PPFIA4 Silent exm139311 1 203029418 [T/C] NM_015053 PPFIA4 EXON Missense_A380V exm139330 1 203033131 [A/G] NM_015053 PPFIA4 EXON Missense_R511Q rs3737883 1 203034906 [A/G] NM_015053 PPFIA4 Silent rs6670637 1 203035551 [A/G] NM_015053 PPFIA4 Silent variant.9416 1 203036893 [T/C] NM_015053 PPFIA4 EXON Nonsense_R535X exm139337 1 203037646 [A/G] NM_015053 PPFIA4 EXON Missense_A566T exm139341 1 203040874 [T/C] NM_015053 PPFIA4 EXON Missense_R621W rs6682652 1 203045583 [T/C] NM_015053 PPFIA4 EXON Silent 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 rs11590405 1 203080264 [T/C] exm139401 1 203098000 [T/G] NM_001048230,NM_000674 ADORA1,ADORA1 EXON Missense_A11S,Missense_A11S exm139405 1 203098085 [T/C] NM_001048230,NM_000674 ADORA1,ADORA1 EXON Missense_A39V,Missense_A39V exm139408 1 203098126 [A/G] NM_001048230,NM_000674 ADORA1,ADORA1 EXON Missense_V53M,Missense_V53M rs6701725 1 203102728 [A/G] NM_001048230,NM_000674 ADORA1,ADORA1 Silent,Silent rs3766563 1 203111695 [T/C] NM_001048230,NM_000674 ADORA1,ADORA1 Silent,Silent rs6686206 1 203115832 [A/G] NM_001048230,NM_000674 ADORA1,ADORA1 Silent,Silent rs6677137 1 203123258 [T/C] NM_001048230,NM_000674 ADORA1,ADORA1 Silent,Silent rs10920576 1 203129179 [T/C] NM_001048230,NM_000674 ADORA1,ADORA1 Silent,Silent rs17465037 1 203130671 [A/G] NM_001048230,NM_000674 ADORA1,ADORA1 Silent,Silent rs3766554 1 203132990 [A/G] NM_001048230,NM_000674 ADORA1,ADORA1 Silent,Silent exm139429 1 203134669 [T/C] NM_001048230,NM_000674 ADORA1,ADORA1 EXON Missense_R208C,Missense_R208C exm139430 1 203134670 [A/G] NM_001048230,NM_000674 ADORA1,ADORA1 EXON Missense_R208H,Missense_R208H exm139431 1 203134682 [A/G] NM_001048230,NM_000674 ADORA1,ADORA1 EXON Missense_N212S,Missense_N212S exm139441 1 203135013 [C/G] NM_001048230,NM_000674 ADORA1,ADORA1 EXON Missense_E322D,Missense_E322D rs16851030 1 203135452 [T/C] NM_001048230,NM_000674 ADORA1,ADORA1 EXON Silent,Silent 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 newrs142613512 1 203138485 [A/G] NM_004997 MYBPH EXON Nonsense_R376X 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 rs903358 1 203147139 [A/C] 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 rs7542294 1 203151176 [A/G] NM_001276 CHI3L1 Silent exm139583 1 203151920 [T/C] NM_001276 CHI3L1 EXON Missense_A176T rs880633 1 203152801 [T/C] NM_001276 CHI3L1 EXON Missense_R145G 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 indel.9438 1 203153752 [I/D] NM_001276 CHI3L1 EXON 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 rs10399931 1 203156080 [T/C] rs946261 1 203157873 [T/C] rs12141375 1 203181362 [A/C] exm139636 1 203186067 [A/G] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_P406S,Missense_P432S,Silent,Silent,Missense_P451S exm139638 1 203186076 [A/G] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Nonsense_Q403X,Nonsense_Q429X,Silent,Silent,Nonsense_Q448X exm139639 1 203186093 [G/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_A397G,Missense_A423G,Silent,Silent,Missense_A442G exm1747094 1 203186123 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_R387Q,Missense_R413Q,Silent,Silent,Missense_R432Q exm139642 1 203186153 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_G377D,Missense_G403D,Silent,Silent,Missense_G422D variant.9442 1 203186262 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 Silent,Silent,Silent,Silent,Silent exm139648 1 203186878 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_R337Q,Missense_R363Q,Silent,Silent,Missense_R382Q exm139653 1 203186950 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Nonsense_W339X,Silent,Silent,Nonsense_W358X exm139655 1 203186963 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_G335R,Silent,Silent,Missense_G354R exm2250491 1 203186964 [A/G] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Synonymous_G334G,Silent,Silent,Synonymous_G353G exm139656 1 203186964 [A/G] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Synonymous_G334G,Silent,Silent,Synonymous_G353G exm1747099 1 203186990 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Silent,Missense_S326G,Silent,Silent,Missense_S345G exm139670 1 203188792 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Synonymous_E289E,Synonymous_E286E,Silent,Silent,Synonymous_E305E variant.9445 1 203188798 [T/G] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Nonsense_Y287X,Nonsense_Y284X,Silent,Silent,Nonsense_Y303X exm139675 1 203188905 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_G252R,Missense_G249R,Silent,Silent,Missense_G268R exm2250492 1 203188948 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Synonymous_K237K,Synonymous_K234K,Silent,Silent,Synonymous_K253K rs946258 1 203190240 [A/G] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 Silent,Silent,Silent,Silent,Silent exm139686 1 203192267 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_A185T,Missense_A182T,Silent,Silent,Missense_A201T exm139689 1 203192355 [A/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_Q155H,Missense_Q152H,Silent,Silent,Missense_Q171H exm1747115 1 203192360 [A/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_A154S,Missense_A151S,Silent,Silent,Missense_A170S exm1747120 1 203192658 [A/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_A149S,Missense_A130S,Silent,Silent,Missense_A149S exm139698 1 203192681 [T/G] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_Y141S,Missense_Y122S,Silent,Silent,Missense_Y141S rs2486069 1 203193736 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 Silent,Silent,Silent,Silent,Silent exm139707 1 203194175 [A/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 Silent,Silent,Silent,Silent,Silent exm139708 1 203194186 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_G102S,Silent,Silent,Silent,Missense_G102S exm139709 1 203194201 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_G97R,Silent,Silent,Silent,Missense_G97R exm139710 1 203194206 [A/G] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_A95V,Silent,Silent,Silent,Missense_A95V exm139715 1 203194834 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_E74K,Missense_E74K,Silent,Silent,Missense_E74K exm139716 1 203194848 [A/G] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_T69I,Missense_T69I,Silent,Silent,Missense_T69I exm139720 1 203194899 [T/G] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_T52N,Missense_T52N,Silent,Silent,Missense_T52N exm139723 1 203194935 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_R40H,Missense_R40H,Silent,Silent,Missense_R40H exm139726 1 203194965 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Missense_N30S,Missense_N30S,Silent,Silent,Missense_N30S rs3766537 1 203195877 [T/G] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 Silent,Silent,Silent,Silent,Silent variant.9453 1 203197656 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 Silent,Silent,Silent,Silent,Silent newrs149866748 1 203197663 [T/C] NM_001270509,NM_001256125,NR_045784,NR_045785,NM_003465 CHIT1,CHIT1,CHIT1,CHIT1,CHIT1 EXON Nonsense_W18X,Nonsense_W18X,Silent,Silent,Nonsense_W18X exm-rs2494287 1 203207520 [T/C] rs7547716 1 203209481 [T/G] rs2494295 1 203218176 [A/G] rs2486948 1 203222108 [A/G] rs7530789 1 203232771 [A/G] rs2486928 1 203238568 [A/G] rs6427997 1 203238707 [A/C] rs7551146 1 203244113 [T/C] rs2494302 1 203245214 [A/G] rs1934657 1 203250860 [T/C] rs871850 1 203253226 [T/C] rs4971226 1 203256800 [T/G] exm2259932 1 203260756 [A/G] rs12136280 1 203271930 [T/G] NR_034150,NR_034151 LOC730227,LOC730227 Silent,Silent exm139763 1 203276546 [A/G] NM_006763 BTG2 EXON Missense_V153M rs7513835 1 203288743 [T/C] rs12757745 1 203308968 [A/G] 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 newrs138277496 1 203317099 [A/C] NM_002023 FMOD EXON Synonymous_L100L rs7543148 1 203317162 [T/C] NM_002023 FMOD EXON Synonymous_E79E 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 rs10494841 1 203328740 [T/C] rs7540920 1 203351887 [T/G] rs10920623 1 203352061 [A/G] rs10800925 1 203365232 [A/G] rs7521975 1 203370193 [A/G] rs1539144 1 203372186 [A/G] rs1539143 1 203372485 [A/G] rs16851527 1 203374751 [A/G] rs1891181 1 203378754 [A/G] rs4971222 1 203379696 [T/C] rs12127756 1 203388521 [A/G] rs10920650 1 203393566 [T/C] rs4971229 1 203402716 [A/G] rs12757606 1 203403981 [A/G] rs6681328 1 203404635 [A/G] rs999051 1 203411859 [T/C] rs2802791 1 203430997 [T/G] rs880878 1 203435718 [A/G] rs2802796 1 203440733 [A/C] 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 newrs139739246 1 203452697 [T/C] NM_201348,NM_002725 PRELP,PRELP EXON Nonsense_R129X,Nonsense_R129X 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 rs1166 1 203456221 [A/C] NM_201348,NM_002725 PRELP,PRELP EXON Silent,Silent rs16851710 1 203459718 [A/G] NM_201348,NM_002725 PRELP,PRELP EXON Silent,Silent rs947367 1 203461778 [T/C] 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 variant.9464 1 203465330 [A/G] NM_014359 OPTC EXON Missense_E66G variant.9465 1 203465353 [T/C] NM_014359 OPTC EXON Nonsense_Q74X exm139917 1 203466190 [T/C] NM_014359 OPTC EXON Missense_T106M newrs143593924 1 203466244 [A/G] NM_014359 OPTC Silent 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 rs4971243 1 203474617 [A/G] NM_014359 OPTC Silent rs4971240 1 203488951 [T/G] rs6670438 1 203508174 [T/C] rs2802774 1 203527812 [A/C] rs2821218 1 203538470 [T/C] rs2798625 1 203554848 [T/G] rs4951272 1 203575667 [A/G] rs3900967 1 203583705 [A/G] rs12120868 1 203587538 [T/G] rs4245719 1 203595146 [A/G] rs10793746 1 203605690 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent rs16852017 1 203636479 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent rs12568960 1 203636551 [T/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent rs11580986 1 203644549 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent rs4951357 1 203644628 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent exm139968 1 203652338 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_T2M,Missense_T2M exm2275533 1 203652352 [A/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_R7S,Missense_R7S exm139971 1 203652469 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_V46I,Missense_V46I rs10900588 1 203656814 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent rs4951073 1 203658486 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent exm139979 1 203667459 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_R123H,Missense_R123H exm139984 1 203668744 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_R183H,Missense_R183H exm139997 1 203670013 [T/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_G288V,Missense_G288V rs3766752 1 203670179 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent exm140007 1 203672867 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_V342A,Missense_V342A rs16852191 1 203675105 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent exm140021 1 203677138 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_R488H,Missense_R488H variant.9473 1 203680012 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Nonsense_R603X,Nonsense_R603X exm140045 1 203680024 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_R607W,Missense_R607W exm140049 1 203680051 [A/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_N616H,Missense_N616H exm140050 1 203680052 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_N616S,Missense_N616S exm140057 1 203680186 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_E661K,Missense_E661K exm140060 1 203680201 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_A666T,Missense_A666T rs2236552 1 203680420 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent rs6655965 1 203680492 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent exm140068 1 203681172 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_I706V,Missense_I706V rs11808688 1 203689314 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent exm1747247 1 203690406 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_P894S,Missense_P894S exm140092 1 203690537 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Synonymous_A937A,Synonymous_A937A exm140093 1 203691612 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_K940R,Missense_K940R exm1747254 1 203691770 [C/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_R993G,Missense_R993G exm140102 1 203691771 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_R993H,Missense_R993H rs10494845 1 203692179 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent exm140107 1 203693084 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_F1034L,Missense_F1034L rs4951130 1 203695836 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 Silent,Silent exm140112 1 203696548 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_S1053F,Missense_S1053F indel.9475 1 203702533 [D/I] NM_001684,NM_001001396 ATP2B4,ATP2B4 exm140126 1 203708710 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_E1116K,Silent newrs41264257 1 203708772 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Synonymous_F1136F,Silent variant.9477 1 203708774 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_A1137V,Silent exm140128 1 203708783 [A/T] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_E1140V,Silent exm140134 1 203708945 [T/C] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Missense_S1194L,Silent rs955865 1 203709034 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Silent,Silent rs568 1 203713133 [A/G] NM_001684,NM_001001396 ATP2B4,ATP2B4 EXON Silent,Silent newrs185791194 1 203734493 [A/G] NM_001136190,NM_017773 LAX1,LAX1 EXON Nonsense_W8X,Silent exm140146 1 203734770 [A/G] NM_001136190,NM_017773 LAX1,LAX1 EXON Silent,Missense_R26H exm140149 1 203739987 [A/G] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_G25R,Missense_G41R exm2275535 1 203740005 [A/G] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_A31T,Missense_A47T exm140151 1 203740024 [T/C] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_A37V,Missense_A53V exm140153 1 203740057 [A/G] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_R48Q,Missense_R64Q variant.9480 1 203740065 [T/C] NM_001136190,NM_017773 LAX1,LAX1 EXON Nonsense_R51X,Nonsense_R67X variant.9481 1 203740066 [A/G] NM_001136190,NM_017773 LAX1,LAX1 Silent,Silent exm140164 1 203741217 [T/C] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_M95T,Missense_M111T exm140166 1 203743003 [A/C] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_P115T,Missense_P131T exm140172 1 203743063 [A/G] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_A135T,Missense_A151T exm140179 1 203743128 [A/C] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_H156Q,Missense_H172Q exm140180 1 203743145 [T/C] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_A162V,Missense_A178V exm140183 1 203743286 [T/C] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_L209P,Missense_L225P exm140188 1 203743360 [G/C] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_E234Q,Missense_E250Q exm2232298 1 203743490 [A/G] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_D277G,Missense_D293G exm140191 1 203743520 [G/C] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_S287T,Missense_S303T exm140192 1 203743546 [A/G] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_D296N,Missense_D312N exm1747284 1 203743576 [A/G] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_E306K,Missense_E322K exm140195 1 203743597 [A/G] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_G313R,Missense_G329R exm140197 1 203743706 [T/C] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_M349T,Missense_M365T exm140201 1 203743798 [T/C] NM_001136190,NM_017773 LAX1,LAX1 EXON Missense_P380S,Missense_P396S rs2185080 1 203747752 [A/G] rs9787160 1 203749270 [A/G] rs6593945 1 203762306 [T/C] 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 rs3737972 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 rs7540041 1 203769532 [A/G] NM_014827,NM_001174108 ZC3H11A,ZBED6 EXON Silent,Missense_S961N rs12145049 1 203777741 [T/C] NM_014827 ZC3H11A Silent rs12562014 1 203779905 [T/C] NM_014827 ZC3H11A Silent rs4951022 1 203784993 [T/C] NM_014827 ZC3H11A Silent 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 rs4951031 1 203829556 [A/G] rs6696091 1 203837577 [T/G] NM_003094 SNRPE Silent rs6702219 1 203850090 [A/G] rs1891432 1 203877662 [T/C] exm2250494 1 203898362 [T/G] rs7545327 1 203907135 [T/C] rs1935588 1 203910220 [A/G] rs11240629 1 203915958 [A/G] rs9438454 1 203918185 [A/G] rs6593984 1 203922784 [A/G] rs11588335 1 203963678 [T/C] rs6674546 1 203967091 [A/G] rs2796424 1 203972021 [T/C] rs12120627 1 203972175 [A/G] rs2810618 1 203996314 [T/C] rs2366009 1 204011313 [T/C] rs6660981 1 204028177 [T/G] rs3911890 1 204030721 [A/G] rs12023823 1 204045948 [A/G] NM_005686 SOX13 Silent rs4951302 1 204049354 [A/G] NM_005686 SOX13 Silent rs7550796 1 204054323 [A/G] NM_005686 SOX13 Silent rs6593993 1 204062992 [A/G] NM_005686 SOX13 Silent rs16852826 1 204068110 [A/G] NM_005686 SOX13 Silent rs3795579 1 204069838 [T/G] NM_005686 SOX13 Silent rs7549807 1 204079268 [T/C] NM_005686 SOX13 Silent rs2250538 1 204081892 [T/C] NM_005686 SOX13 Silent 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 rs2293335 1 204103618 [A/G] NM_018208 ETNK2 Silent exm140453 1 204106316 [C/G] NM_018208 ETNK2 EXON Missense_H310Q exm140456 1 204106337 [C/G] NM_018208 ETNK2 EXON Missense_E303D rs10900553 1 204108163 [T/C] NM_018208 ETNK2 Silent 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 rs6693954 1 204132638 [T/A] NM_000537 REN Silent rs6676670 1 204132816 [T/G] NM_000537 REN Silent exm140569 1 204135325 [A/G] NM_000537 REN EXON Missense_R33W rs6681776 1 204136628 [T/C] rs6702587 1 204143007 [T/C] rs11240695 1 204158132 [A/C] exm140581 1 204159701 [T/G] NM_002256 KISS1 EXON Missense_P110T exm140589 1 204159922 [T/C] NM_002256 KISS1 EXON Missense_Q36R rs4951316 1 204161490 [T/C] NM_002256 KISS1 Silent var_1_204161945 1 204161945 [I/D] NM_002256 KISS1 EXON indel.9499 1 204170759 [D/I] NM_198447 GOLT1A 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 variant.9500 1 204172024 [A/G] NM_198447 GOLT1A EXON Synonymous_N39N rs4373805 1 204175579 [A/G] NM_198447 GOLT1A Silent 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 rs3795571 1 204198209 [A/G] NM_014935 PLEKHA6 EXON Synonymous_H869H 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 rs4412655 1 204210750 [A/C] NM_014935 PLEKHA6 Silent exm140687 1 204214011 [A/G] NM_014935 PLEKHA6 EXON Missense_T718I exm140691 1 204214075 [A/G] NM_014935 PLEKHA6 EXON Missense_S697P rs4951329 1 204216410 [T/C] NM_014935 PLEKHA6 Silent 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 rs4951338 1 204230052 [A/G] NM_014935 PLEKHA6 Silent exm2250496 1 204230565 [A/G] NM_014935 PLEKHA6 EXON Synonymous_A131A exm140790 1 204230576 [T/C] NM_014935 PLEKHA6 EXON Missense_A128T rs4951056 1 204232972 [T/C] NM_014935 PLEKHA6 Silent exm140803 1 204236636 [T/C] NM_014935 PLEKHA6 EXON Missense_V83I exm1747532 1 204237368 [A/G] NM_014935 PLEKHA6 EXON Missense_P59S rs10900571 1 204237416 [T/C] NM_014935 PLEKHA6 EXON Missense_V43I exm140814 1 204242756 [A/G] NM_014935 PLEKHA6 EXON Missense_R34W exm140818 1 204242827 [A/G] NM_014935 PLEKHA6 EXON Missense_P10L rs12145347 1 204244473 [T/C] NM_014935 PLEKHA6 Silent rs4245726 1 204254288 [T/C] NM_014935 PLEKHA6 Silent rs7525113 1 204263864 [T/C] NM_014935 PLEKHA6 Silent rs6594001 1 204266980 [A/G] NM_014935 PLEKHA6 Silent rs6660437 1 204274256 [T/G] NM_014935 PLEKHA6 Silent rs17333794 1 204282936 [T/C] NM_014935 PLEKHA6 Silent rs10900579 1 204289051 [A/G] NM_014935 PLEKHA6 Silent rs17333933 1 204289780 [T/G] NM_014935 PLEKHA6 Silent rs4951365 1 204317155 [A/C] NM_014935 PLEKHA6 Silent rs10494854 1 204323874 [A/G] NM_014935 PLEKHA6 Silent rs10736846 1 204353050 [A/G] rs2942133 1 204369875 [T/G] 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 rs4951373 1 204392257 [A/G] NM_002646 PIK3C2B EXON Silent 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 rs17406271 1 204396728 [A/C] NM_002646 PIK3C2B Silent exm140953 1 204396787 [T/C] NM_002646 PIK3C2B EXON Missense_I1526V exm140959 1 204396867 [T/C] NM_002646 PIK3C2B EXON Missense_R1499Q variant.9507 1 204397349 [T/C] NM_002646 PIK3C2B Silent 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 rs3747636 1 204403659 [A/G] NM_002646 PIK3C2B EXON Synonymous_N1198N 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 rs3827534 1 204416501 [T/C] NM_002646 PIK3C2B Silent exm141066 1 204416604 [A/G] NM_002646 PIK3C2B EXON Missense_R817C exm141067 1 204416625 [T/C] NM_002646 PIK3C2B EXON Missense_S810G rs3106366 1 204417972 [A/G] NM_002646 PIK3C2B Silent 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 rs3014638 1 204420629 [A/G] NM_002646 PIK3C2B Silent exm141088 1 204423810 [T/C] NM_002646 PIK3C2B EXON Missense_V685I exm141103 1 204426183 [A/C] NM_002646 PIK3C2B EXON Missense_A577S rs1008833 1 204426295 [A/G] NM_002646 PIK3C2B Silent 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 rs2271415 1 204433093 [A/C] NM_002646 PIK3C2B Silent exm141131 1 204434438 [A/G] NM_002646 PIK3C2B EXON Missense_R315W var_1_204435899 1 204435899 [A/G] NM_002646 PIK3C2B Silent variant.9512 1 204437998 [A/C] NM_002646 PIK3C2B EXON Synonymous_P311P 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 rs12402641 1 204452779 [A/G] NM_002646 PIK3C2B Silent rs11240748 1 204453320 [T/C] NM_002646 PIK3C2B Silent rs7556371 1 204457336 [A/G] NM_002646 PIK3C2B Silent indel.9513 1 204494607 [D/I] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 exm141203 1 204494668 [A/G] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_A8T,Missense_A8T,Missense_A8T exm141205 1 204494703 [C/G] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_I19M,Missense_I19M,Missense_I19M variant.9515 1 204501948 [A/G] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 Silent,Silent,Silent,Silent exm141228 1 204507383 [A/G] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_D153G,Missense_D153G,Silent newrs77617818 1 204507441 [A/G] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 Silent,Silent,Silent,Silent rs2290853 1 204511704 [T/C] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 Silent,Silent,Silent,Silent exm141235 1 204511924 [T/C] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_I175T,Missense_I175T,Silent exm141236 1 204511936 [C/G] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_A179G,Missense_A179G,Silent exm141249 1 204515925 [T/G] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_V225L,Missense_V275L,Silent exm141250 1 204515942 [A/C] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_K230N,Missense_K280N,Silent rs2290854 1 204516025 [A/G] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 Silent,Silent,Silent,Silent exm141256 1 204518437 [T/C] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_S317L,Missense_S367L,Missense_S41L exm141258 1 204518457 [A/C] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_K324Q,Missense_K374Q,Missense_K48Q exm141261 1 204518499 [C/G] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_P338A,Missense_P388A,Missense_P62A exm141262 1 204518502 [T/C] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_C339R,Missense_C389R,Missense_C63R exm141263 1 204518530 [T/C] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 EXON Silent,Missense_A348V,Missense_A398V,Missense_A72V rs4245739 1 204518842 [A/C] NR_024171,NM_001204171,NM_002393,NM_001204172 MDM4,MDM4,MDM4,MDM4 EXON Silent,Silent,Silent,Silent rs16854023 1 204551830 [T/C] rs6682208 1 204566183 [T/C] rs10900601 1 204572050 [A/G] exm-rs12143943 1 204572071 [A/G] exm141273 1 204587044 [T/C] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_G693R,Missense_G693R rs11588857 1 204587047 [A/G] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_P692S,Missense_P692S exm141274 1 204587047 [A/G] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_P692S,Missense_P692S exm141278 1 204587145 [A/G] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_V659A,Missense_V659A exm141279 1 204587173 [C/G] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_L650V,Missense_L650V exm141283 1 204587226 [A/G] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_I632T,Missense_I632T rs3747632 1 204587240 [A/G] NM_006338,NM_201630 LRRN2,LRRN2 EXON Synonymous_D627D,Synonymous_D627D exm141289 1 204587364 [T/C] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_R586H,Missense_R586H exm141292 1 204587394 [A/G] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_P576L,Missense_P576L exm141294 1 204587427 [T/C] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_R565Q,Missense_R565Q exm141295 1 204587440 [T/C] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_A561T,Missense_A561T exm141298 1 204587548 [T/C] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_E525K,Missense_E525K exm1747703 1 204587589 [A/C] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_S511I,Missense_S511I exm141347 1 204588444 [T/C] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_R226Q,Missense_R226Q exm141351 1 204588493 [A/G] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_R210W,Missense_R210W exm141356 1 204588529 [T/C] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_G198S,Missense_G198S exm141357 1 204588574 [A/G] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_R183C,Missense_R183C exm141361 1 204588642 [A/G] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_A160V,Missense_A160V exm141369 1 204588729 [T/C] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_R131Q,Missense_R131Q exm1747716 1 204588793 [T/C] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_D110N,Missense_D110N exm141372 1 204588799 [T/C] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_A108T,Missense_A108T exm141376 1 204588859 [G/C] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_E88Q,Missense_E88Q exm141383 1 204588988 [A/C] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_S45A,Missense_S45A exm141385 1 204589057 [T/C] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_V22M,Missense_V22M exm141386 1 204589066 [T/C] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_A19T,Missense_A19T exm141388 1 204589101 [A/G] NM_006338,NM_201630 LRRN2,LRRN2 EXON Missense_P7L,Missense_P7L rs4951087 1 204609194 [A/G] NM_006338,NM_201630 LRRN2,LRRN2 Silent,Silent rs4951090 1 204618533 [T/C] NM_006338,NM_201630 LRRN2,LRRN2 Silent,Silent rs4951092 1 204618573 [A/G] NM_006338,NM_201630 LRRN2,LRRN2 Silent,Silent rs6667578 1 204626549 [T/C] NM_006338,NM_201630 LRRN2,LRRN2 Silent,Silent rs10900421 1 204646295 [A/G] NM_006338,NM_201630 LRRN2,LRRN2 Silent,Silent rs2782524 1 204656803 [A/C] rs10751426 1 204668280 [T/C] rs868506 1 204682411 [T/G] rs11240252 1 204691325 [A/G] rs6689270 1 204699500 [A/G] rs6680376 1 204700526 [T/C] rs12239515 1 204703480 [A/G] rs2012130 1 204717211 [T/C] rs2093537 1 204729758 [A/G] rs16854367 1 204739515 [T/C] rs11240265 1 204740078 [T/C] rs11240271 1 204747491 [A/G] rs12047135 1 204777269 [T/C] exm-rs2025236 1 204783205 [A/G] rs2025236 1 204783205 [A/G] rs7413575 1 204788772 [T/C] rs11801589 1 204807500 [A/G] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs4951136 1 204815729 [T/G] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs1548272 1 204829234 [A/G] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs16854617 1 204853338 [A/G] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs12405378 1 204861371 [T/C] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent exm2259934 1 204866365 [T/C] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs12025272 1 204869559 [A/G] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent exm2250500 1 204871146 [T/C] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs17336419 1 204876966 [T/G] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs2369423 1 204877670 [T/G] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs11240309 1 204878704 [A/G] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs11240310 1 204889532 [T/C] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs2625221 1 204904835 [A/G] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs2595955 1 204905920 [A/G] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs2802814 1 204906922 [T/C] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent rs12737855 1 204912843 [A/G] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389 NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent variant.9518 1 204913534 [T/C] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Synonymous_L31L,Missense_P31S,Synonymous_L31L,Synonymous_L31L,Missense_P31S,Synonymous_L31L rs2595961 1 204913652 [A/G] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent,Silent variant.9519 1 204919702 [T/C] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Silent,Synonymous_L37L,Silent,Silent,Synonymous_L37L,Silent exm141412 1 204923406 [A/C] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_D96E,Missense_D102E,Missense_D96E,Missense_D96E,Missense_D102E,Missense_D96E exm141416 1 204923418 [T/C] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Synonymous_G100G,Synonymous_G106G,Synonymous_G100G,Synonymous_G100G,Synonymous_G106G,Synonymous_G100G exm2250502 1 204923418 [T/C] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Synonymous_G100G,Synonymous_G106G,Synonymous_G100G,Synonymous_G100G,Synonymous_G106G,Synonymous_G100G exm141421 1 204923497 [T/C] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_R127C,Missense_R133C,Missense_R127C,Missense_R127C,Missense_R133C,Missense_R127C exm141428 1 204924020 [T/C] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_T153M,Missense_T159M,Missense_T153M,Missense_T153M,Missense_T159M,Missense_T153M rs2275696 1 204927136 [A/G] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent,Silent rs12064077 1 204940961 [A/G] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent,Silent rs2595948 1 204942928 [T/C] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent,Silent,Silent exm141468 1 204943333 [T/C] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_R447W,Missense_R436W,Missense_R430W,Missense_R447W,Missense_R436W,Missense_R447W exm1747767 1 204943844 [A/G] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_G495D,Missense_G484D,Missense_G478D,Missense_G495D,Missense_G484D,Missense_G495D exm141485 1 204943936 [T/C] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_R526C,Missense_R515C,Missense_R509C,Missense_R526C,Missense_R515C,Missense_R526C exm141489 1 204944417 [A/G] NM_001160332,NM_001005388,NM_001160333,NM_015090,NM_001005389,NM_001160331 NFASC,NFASC,NFASC,NFASC,NFASC,NFASC EXON Missense_R537Q,Missense_R526Q,Missense_R520Q,Missense_R537Q,Missense_R526Q,Missense_R537Q rs6663324 1 204946764 [T/C] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent rs3892248 1 204947702 [A/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent exm141518 1 204948583 [A/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_R687Q,Missense_R691Q,Missense_R687Q,Missense_R702Q exm141529 1 204950996 [A/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_R769Q,Missense_R773Q,Missense_R769Q,Missense_R784Q exm141530 1 204951013 [A/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_V775I,Missense_V779I,Missense_V775I,Missense_V790I exm141531 1 204951037 [A/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_V783M,Missense_V787M,Missense_V783M,Missense_V798M exm141534 1 204951061 [A/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_V791M,Missense_V795M,Missense_V791M,Missense_V806M exm1747784 1 204953167 [T/C] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_A824V,Silent,Missense_A824V,Missense_A839V exm141539 1 204953188 [A/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_R831Q,Silent,Missense_R831Q,Missense_R846Q rs2278795 1 204954993 [A/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent exm141550 1 204955073 [A/C] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_N870K,Silent,Missense_N870K,Missense_N885K exm141553 1 204955131 [A/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_V890M,Silent,Missense_V890M,Missense_V905M exm141556 1 204955234 [T/C] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_P924L,Silent,Missense_P924L,Missense_P939L rs11240325 1 204955329 [A/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent exm141558 1 204956575 [T/C] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_R937W,Missense_R834W,Missense_R937W,Missense_R952W exm141566 1 204957826 [A/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_V990M,Missense_V887M,Missense_V990M,Missense_V1005M exm141571 1 204957926 [T/C] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_P1023L,Missense_P920L,Missense_P1023L,Missense_P1038L exm141572 1 204957932 [A/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_E1025G,Missense_E922G,Missense_E1025G,Missense_E1040G exm141579 1 204966300 [T/C] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Silent,Missense_P929S,Silent,Silent exm141587 1 204966334 [T/C] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Silent,Missense_T940M,Silent,Silent exm141591 1 204966402 [A/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Silent,Missense_I963V,Silent,Silent exm141594 1 204966428 [C/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Silent,Missense_I971M,Silent,Silent rs2802809 1 204969586 [T/C] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent rs6697344 1 204971485 [A/C] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent exm141611 1 204971736 [A/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Silent,Missense_K1050R,Silent,Silent rs16854930 1 204974508 [T/C] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent rs2802841 1 204975735 [A/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent rs2595968 1 204977799 [A/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC Silent,Silent,Silent,Silent exm141619 1 204978703 [T/C] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_A1037V,Missense_A1103V,Missense_A1032V,Missense_A1052V exm141625 1 204978777 [A/G] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Missense_V1062I,Missense_V1128I,Missense_V1057I,Missense_V1077I rs2794866 1 204988535 [T/C] NM_001160332,NM_001005388,NM_015090,NM_001160331 NFASC,NFASC,NFASC,NFASC EXON Silent,Silent,Silent,Silent rs11240341 1 205015284 [T/C] NM_005076 CNTN2 Silent rs10900438 1 205019488 [A/C] NM_005076 CNTN2 Silent rs9787334 1 205023316 [T/C] NM_005076 CNTN2 Silent 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 rs2275697 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 rs10793725 1 205028915 [T/C] NM_005076 CNTN2 Silent 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 rs16855040 1 205044757 [A/G] NM_005076 CNTN2 EXON Silent rs1572993 1 205045087 [A/G] NM_005076 CNTN2 EXON Silent rs16855045 1 205046894 [T/C] NM_005076 CNTN2 EXON Silent exm141808 1 205052685 [T/C] NM_203376 TMEM81 EXON Missense_Q255R exm141815 1 205052775 [A/G] NM_203376 TMEM81 EXON Missense_A225V indel.9531 1 205053024 [I/D] NM_203376 TMEM81 EXON exm141830 1 205053070 [T/C] NM_203376 TMEM81 EXON Missense_V127I variant.9533 1 205053087 [T/C] NM_203376 TMEM81 EXON Nonsense_W121X 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 rs4951168 1 205053219 [T/C] NM_203376 TMEM81 EXON Missense_R77Q 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 rs7520752 1 205054114 [A/G] rs2369526 1 205054406 [T/C] exm141855 1 205064024 [A/G] NM_001193273,NM_001193272,NM_005057 RBBP5,RBBP5,RBBP5 EXON Missense_A395V,Silent,Missense_A522V exm141860 1 205064160 [T/C] NM_001193273,NM_001193272,NM_005057 RBBP5,RBBP5,RBBP5 EXON Missense_G350S,Missense_G477S,Missense_G477S rs11240368 1 205110929 [T/C] rs3795556 1 205112911 [T/C] NM_015375,NM_199462 DSTYK,DSTYK EXON Silent,Silent exm141909 1 205116700 [A/C] NM_015375,NM_199462 DSTYK,DSTYK EXON Missense_D926Y,Missense_D881Y exm141911 1 205116729 [A/G] NM_015375,NM_199462 DSTYK,DSTYK EXON Missense_S916F,Missense_S871F exm141913 1 205116750 [A/G] NM_015375,NM_199462 DSTYK,DSTYK EXON Missense_I909T,Missense_I864T exm141932 1 205128698 [A/G] NM_015375,NM_199462 DSTYK,DSTYK EXON Missense_R739W,Missense_R739W exm141933 1 205128707 [A/G] NM_015375,NM_199462 DSTYK,DSTYK EXON Missense_R736W,Missense_R736W exm141942 1 205129388 [T/A] NM_015375,NM_199462 DSTYK,DSTYK EXON Missense_K653N,Missense_K653N newrs142986970 1 205130386 [A/G] NM_015375,NM_199462 DSTYK,DSTYK EXON Missense_R650C,Missense_R650C exm141944 1 205130413 [A/G] NM_015375,NM_199462 DSTYK,DSTYK EXON Missense_C641R,Missense_C641R exm141951 1 205131207 [T/C] NM_015375,NM_199462 DSTYK,DSTYK EXON Missense_R592Q,Missense_R592Q exm141952 1 205131208 [A/G] NM_015375,NM_199462 DSTYK,DSTYK EXON Missense_R592W,Missense_R592W exm141969 1 205138632 [T/G] NM_015375,NM_199462 DSTYK,DSTYK EXON Missense_K328T,Missense_K328T indel.9537 1 205138715 [D/I] NM_015375,NM_199462 DSTYK,DSTYK EXON rs10900461 1 205153208 [T/C] NM_015375,NM_199462 DSTYK,DSTYK Silent,Silent exm141979 1 205156545 [T/C] NM_015375,NM_199462 DSTYK,DSTYK Silent,Silent exm141982 1 205156631 [T/G] NM_015375,NM_199462 DSTYK,DSTYK EXON Missense_E190A,Missense_E190A exm141987 1 205156739 [T/C] NM_015375,NM_199462 DSTYK,DSTYK EXON Missense_R154H,Missense_R154H exm141989 1 205156743 [C/G] NM_015375,NM_199462 DSTYK,DSTYK EXON Missense_L153V,Missense_L153V exm142002 1 205180407 [A/T] NM_015375,NM_199462 DSTYK,DSTYK EXON Missense_L86Q,Missense_L86Q exm142003 1 205180453 [T/C] NM_015375,NM_199462 DSTYK,DSTYK EXON Missense_G71S,Missense_G71S exm142004 1 205180474 [A/G] NM_015375,NM_199462 DSTYK,DSTYK EXON Missense_L64F,Missense_L64F rs7513642 1 205195831 [T/C] 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 rs10900473 1 205213883 [T/G] NM_014858,NM_001242925 TMCC2,TMCC2 Silent,Silent rs17417252 1 205216110 [A/G] NM_014858,NM_001242925 TMCC2,TMCC2 Silent,Silent rs1172149 1 205224758 [A/G] NM_014858,NM_001242925 TMCC2,TMCC2 Silent,Silent rs1172147 1 205225457 [A/G] NM_014858,NM_001242925 TMCC2,TMCC2 Silent,Silent exm-rs1668873 1 205235990 [A/G] NM_014858,NM_001242925 TMCC2,TMCC2 Silent,Silent rs1668871 1 205237137 [T/C] NM_014858,NM_001242925 TMCC2,TMCC2 Silent,Silent exm142113 1 205240262 [A/G] NM_014858,NM_001242925 TMCC2,TMCC2 EXON Missense_E566G,Missense_E488G rs9660992 1 205249450 [A/G] rs1172127 1 205257447 [A/G] 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 rs1106201 1 205272926 [T/C] NM_030952 NUAK2 EXON Synonymous_L513L 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 rs12074332 1 205284082 [T/C] NM_030952 NUAK2 Silent exm142242 1 205290546 [A/G] NM_030952 NUAK2 EXON Missense_R71W exm142250 1 205290717 [A/G] NM_030952 NUAK2 EXON Missense_P14S rs11240414 1 205292420 [T/C] rs10900479 1 205305048 [A/C] exm142258 1 205306592 [T/C] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_A330T,Missense_A330T,Missense_A330T,Missense_A330T exm142261 1 205306609 [A/C] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_V324G,Missense_V324G,Missense_V324G,Missense_V324G exm142276 1 205307703 [T/C] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_R260Q,Missense_R260Q,Missense_R260Q,Missense_R260Q var_1_205307722 1 205307722 [A/C] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Nonsense_G254X,Nonsense_G254X,Nonsense_G254X,Nonsense_G254X exm142281 1 205308351 [T/C] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_R243Q,Missense_R243Q,Missense_R243Q,Missense_R243Q exm142284 1 205308370 [A/G] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_R237W,Missense_R237W,Missense_R237W,Missense_R237W exm142287 1 205308411 [T/C] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_H223R,Missense_H223R,Missense_H223R,Missense_H223R exm142296 1 205308778 [T/C] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_V179M,Missense_V179M,Missense_V179M,Missense_V179M exm1748009 1 205308785 [A/C] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_K176N,Missense_K176N,Missense_K176N,Missense_K176N exm142311 1 205312438 [T/C] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_M99V,Missense_M99V,Missense_M99V,Missense_M99V exm142319 1 205312566 [A/G] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A EXON Missense_A56V,Missense_A56V,Missense_A56V,Missense_A56V rs4951199 1 205313647 [T/G] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A Silent,Silent,Silent,Silent exm2250505 1 205318321 [T/C] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A Silent,Silent,Silent,Silent rs10751435 1 205318321 [T/C] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A Silent,Silent,Silent,Silent rs913722 1 205318983 [T/C] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A Silent,Silent,Silent,Silent rs7516786 1 205322091 [A/C] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A Silent,Silent,Silent,Silent rs2864859 1 205322809 [T/C] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A Silent,Silent,Silent,Silent rs2864860 1 205322934 [T/C] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A Silent,Silent,Silent,Silent rs2183230 1 205324725 [A/G] NM_018203,NM_001271863,NM_001271865,NM_001271864 KLHDC8A,KLHDC8A,KLHDC8A,KLHDC8A Silent,Silent,Silent,Silent rs6676552 1 205336875 [T/C] rs6661074 1 205339119 [A/G] rs6664679 1 205340269 [A/G] rs12402771 1 205343648 [A/G] NR_038425 LEMD1-AS1 Silent exm142334 1 205353492 [A/C] NR_038425,NM_001001552,NM_001199050,NR_037583,NM_001199052,NM_001199051 LEMD1-AS1,LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Silent,Silent,Missense_W91G,Silent,Silent,Missense_W50G rs11581020 1 205354073 [A/G] NR_038425,NM_001001552,NM_001199050,NR_037583,NM_001199052,NM_001199051 LEMD1-AS1,LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 Silent,Silent,Silent,Silent,Silent,Silent rs11240466 1 205358622 [A/G] NM_001001552,NM_001199050,NR_037583,NM_001199052,NM_001199051 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 Silent,Silent,Silent,Silent,Silent rs17346510 1 205358741 [T/C] NM_001001552,NM_001199050,NR_037583,NM_001199052,NM_001199051 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 Silent,Silent,Silent,Silent,Silent rs6421773 1 205377069 [T/G] NM_001001552,NM_001199050,NR_037583,NM_001199052,NM_001199051 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 Silent,Silent,Silent,Silent,Silent rs7533222 1 205377965 [T/C] NM_001001552,NM_001199050,NR_037583,NM_001199052,NM_001199051 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 Silent,Silent,Silent,Silent,Silent rs17346622 1 205384781 [T/C] NM_001001552,NM_001199050,NR_037583,NM_001199052,NM_001199051 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 Silent,Silent,Silent,Silent,Silent exm142336 1 205385412 [A/G] NM_001001552,NM_001199050,NR_037583,NM_001199052,NM_001199051 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Silent,Missense_I73T,Silent,Silent,Missense_I32T exm142341 1 205388384 [C/G] NM_001001552,NM_001199050,NR_037583,NM_001199052,NM_001199051 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Missense_G60A,Missense_G60A,Silent,Silent,Silent exm142345 1 205388448 [T/C] NM_001001552,NM_001199050,NR_037583,NM_001199052,NM_001199051 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Missense_V39I,Missense_V39I,Silent,Silent,Silent variant.9557 1 205389583 [A/G] NM_001001552,NM_001199050,NR_037583,NM_001199052,NM_001199051 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Missense_P28S,Missense_P28S,Silent,Missense_R28C,Nonsense_Q28X exm142351 1 205389592 [A/G] NM_001001552,NM_001199050,NR_037583,NM_001199052,NM_001199051 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Missense_P25S,Missense_P25S,Silent,Missense_P25S,Missense_P25S var_1_205389628 1 205389628 [A/G] NM_001001552,NM_001199050,NR_037583,NM_001199052,NM_001199051 LEMD1,LEMD1,LEMD1,LEMD1,LEMD1 EXON Nonsense_Q13X,Nonsense_Q13X,Silent,Nonsense_Q13X,Nonsense_Q13X rs10900490 1 205404878 [T/C] rs1999131 1 205418134 [A/G] rs1109953 1 205442194 [T/C] rs4951226 1 205451659 [T/C] rs7555999 1 205455368 [T/C] rs6681714 1 205468289 [T/C] rs1538365 1 205472184 [T/C] exm-rs16855698 1 205483124 [T/C] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 Silent,Silent,Silent rs11240503 1 205484073 [A/G] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 Silent,Silent,Silent newrs74876058 1 205492343 [A/G] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON Synonymous_S16S,Synonymous_S16S,Synonymous_S16S exm142359 1 205492387 [T/C] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON Missense_T31M,Missense_T31M,Missense_T31M exm142361 1 205492413 [T/C] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON Missense_R40W,Missense_R40W,Missense_R40W exm142362 1 205492417 [A/G] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON Missense_R41Q,Missense_R41Q,Missense_R41Q exm142366 1 205492622 [A/G] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON Missense_G48S,Missense_G48S,Missense_G48S exm142369 1 205492679 [A/G] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON Missense_G67R,Missense_G67R,Missense_G67R exm142375 1 205492797 [T/C] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON Silent,Missense_T106M,Silent exm142381 1 205493462 [A/C] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON Missense_R126S,Missense_R156S,Missense_R126S indel.9565 1 205494289 [I/D] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON exm142391 1 205495233 [T/C] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON Missense_T166M,Missense_T196M,Missense_T166M exm142407 1 205496943 [T/C] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON Missense_R251W,Missense_R281W,Missense_R251W exm142416 1 205497202 [A/C] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON Missense_T294P,Missense_T324P,Missense_T294P exm142421 1 205498159 [G/C] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON Missense_T336R,Missense_T366R,Missense_T336R exm142425 1 205498475 [T/C] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON Missense_P366S,Missense_P396S,Missense_P366S exm142427 1 205498647 [A/G] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 Silent,Silent,Silent exm142435 1 205499478 [A/G] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 Silent,Silent,Silent rs12035825 1 205499495 [A/G] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 Silent,Silent,Silent exm142441 1 205499777 [A/G] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON Missense_K445R,Missense_K475R,Missense_K445R exm142445 1 205500475 [A/G] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON Missense_R465Q,Missense_R495Q,Missense_R465Q exm1748068 1 205500478 [A/G] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON Missense_G466E,Missense_G496E,Missense_G466E rs14028 1 205501521 [A/G] NM_002596,NM_212503,NM_212502 CDK18,CDK18,CDK18 EXON Silent,Silent,Silent rs12751472 1 205510242 [T/C] rs12041365 1 205510376 [A/G] rs10900509 1 205515921 [T/C] rs12035608 1 205541515 [A/C] NM_181644 MFSD4 Silent rs1891506 1 205543862 [A/G] NM_181644 MFSD4 Silent 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 rs7523059 1 205550898 [A/G] NM_181644 MFSD4 Silent rs7531623 1 205555145 [A/G] NM_181644 MFSD4 Silent rs6593954 1 205556426 [T/C] NM_181644 MFSD4 Silent rs6677703 1 205558976 [A/G] NM_181644 MFSD4 Silent rs7529077 1 205561372 [T/C] NM_181644 MFSD4 EXON Synonymous_F418F rs7553871 1 205562202 [A/G] NM_181644 MFSD4 Silent rs3795550 1 205563162 [T/C] NM_181644 MFSD4 Silent rs2282449 1 205568213 [T/C] NM_181644 MFSD4 Silent exm142509 1 205568301 [A/G] NM_181644 MFSD4 EXON Missense_V471M indel.9574 1 205568371 [D/I] NM_181644 MFSD4 EXON rs3789461 1 205588637 [T/C] NM_001973,NM_021795 ELK4,ELK4 EXON Silent,Silent 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 rs6593958 1 205602553 [A/G] rs11579421 1 205607227 [T/C] rs12039255 1 205609010 [T/C] rs6661827 1 205610774 [T/C] rs2153903 1 205616849 [A/G] 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 rs11240547 1 205632932 [A/G] NM_033102 SLC45A3 Silent exm142681 1 205633685 [T/C] NM_033102 SLC45A3 EXON Missense_A34T exm1748128 1 205633751 [A/G] NM_033102 SLC45A3 EXON Missense_R12W rs1775147 1 205648707 [T/G] NM_033102 SLC45A3 Silent rs1172198 1 205662718 [A/G] rs6676110 1 205662977 [A/G] exm-rs12748961 1 205676263 [T/C] rs16856186 1 205678126 [T/G] rs10900522 1 205684067 [T/C] NM_022731 NUCKS1 EXON Silent rs1772145 1 205695695 [T/C] NM_022731 NUCKS1 Silent exm-rs823128 1 205713378 [A/G] NM_022731 NUCKS1 Silent rs823128 1 205713378 [A/G] NM_022731 NUCKS1 Silent rs823136 1 205738251 [A/C] NM_001135664,NM_001135663,NM_001135662,NM_003929 RAB7L1,RAB7L1,RAB7L1,RAB7L1 EXON Silent,Silent,Silent,Silent exm142718 1 205739558 [T/C] NM_001135664,NM_001135663,NM_001135662,NM_003929 RAB7L1,RAB7L1,RAB7L1,RAB7L1 EXON Missense_R103K,Missense_R151K,Missense_R175K,Missense_R175K exm142720 1 205739907 [T/G] NM_001135664,NM_001135663,NM_001135662,NM_003929 RAB7L1,RAB7L1,RAB7L1,RAB7L1 EXON Missense_T80P,Missense_T128P,Missense_T152P,Missense_T152P variant.9582 1 205740599 [T/C] NM_001135664,NM_001135663,NM_001135662,NM_003929 RAB7L1,RAB7L1,RAB7L1,RAB7L1 Silent,Silent,Silent,Silent exm142728 1 205740668 [G/C] NM_001135664,NM_001135663,NM_001135662,NM_003929 RAB7L1,RAB7L1,RAB7L1,RAB7L1 EXON Missense_Q32E,Missense_Q80E,Missense_Q104E,Missense_Q104E rs10900524 1 205748309 [A/G] exm-rs947211 1 205752665 [A/G] rs12565968 1 205755046 [A/G] rs823154 1 205762406 [T/C] NM_173854 SLC41A1 Silent 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 rs823066 1 205771173 [A/G] NM_173854 SLC41A1 Silent exm2259935 1 205773652 [T/C] NM_173854 SLC41A1 Silent rs708730 1 205777780 [A/G] 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] rs823088 1 205794175 [T/C] exm142809 1 205797858 [T/G] NM_152491 PM20D1 EXON Missense_N467H exm142814 1 205799454 [A/T] NM_152491 PM20D1 EXON Missense_I447F indel.9589 1 205801858 [I/D] NM_152491 PM20D1 EXON exm142825 1 205801872 [A/G] NM_152491 PM20D1 EXON Missense_I380T exm142827 1 205801881 [A/G] NM_152491 PM20D1 EXON Missense_T377M rs6694490 1 205806179 [T/C] NM_152491 PM20D1 Silent exm142830 1 205810947 [T/C] NM_152491 PM20D1 EXON Missense_G346R variant.9590 1 205811305 [T/C] NM_152491 PM20D1 EXON Nonsense_W314X 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 rs1104899 1 205814485 [A/G] NM_152491 PM20D1 EXON Missense_R153W 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 rs7517009 1 205815992 [T/C] NM_152491 PM20D1 Silent rs1539394 1 205817574 [T/C] NM_152491 PM20D1 Silent rs11540014 1 205819104 [A/G] NM_152491 PM20D1 EXON Missense_H33Y exm142893 1 205819116 [T/C] NM_152491 PM20D1 EXON Missense_R29G rs7364618 1 205857654 [A/G] NR_046097 LOC284581 Silent rs7365031 1 205867013 [T/C] 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 rs9438439 1 205891636 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 Silent,Silent variant.9603 1 205892210 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 EXON Synonymous_K591K,Synonymous_K591K 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 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 rs7555185 1 205899708 [A/G] NM_052934,NM_134325 SLC26A9,SLC26A9 Silent,Silent 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 rs7555534 1 205908867 [T/C] NM_052934,NM_134325 SLC26A9,SLC26A9 Silent,Silent rs7415921 1 205910883 [T/G] NM_052934,NM_134325 SLC26A9,SLC26A9 Silent,Silent rs4077469 1 205914885 [T/C] kgp3891198 1 205915944 [T/C] rs12095392 1 205916017 [A/G] rs28706615 1 206214242 [A/G] 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 rs33985287 1 206231259 [A/G] NM_000707 AVPR1B EXON Silent rs33933482 1 206231264 [A/G] NM_000707 AVPR1B EXON Silent exm143158 1 206239549 [T/C] NM_001007544 C1orf186 EXON Missense_V117I exm143161 1 206240169 [A/C] NM_001007544 C1orf186 EXON Missense_L95V variant.9610 1 206240197 [T/C] NM_001007544 C1orf186 Silent exm143164 1 206241553 [A/G] NM_001007544 C1orf186 EXON Missense_M79T exm143170 1 206241650 [T/C] NM_001007544 C1orf186 EXON Missense_A47T newrs113345311 1 206243599 [T/C] NM_001007544 C1orf186 Silent rs28735054 1 206256359 [A/G] NM_001007544 C1orf186 Silent exm2265075 1 206302435 [A/G] rs28619955 1 206315933 [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 variant.9613 1 206318472 [A/G] NM_148964,NM_001910 CTSE,CTSE Silent,Silent exm143219 1 206320300 [T/C] NM_148964,NM_001910 CTSE,CTSE EXON Missense_I148T,Missense_I148T variant.9615 1 206320320 [A/G] NM_148964,NM_001910 CTSE,CTSE Silent,Silent 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 indel.9616 1 206325345 [I/D] NM_148964,NM_001910 CTSE,CTSE EXON rs28410805 1 206326498 [A/G] NM_148964,NM_001910 CTSE,CTSE Silent,Silent 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 var_1_206327601 1 206327601 [A/G] 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_001170637,NM_001271872,NM_001271870,NM_015326 SRGAP2,SRGAP2C,SRGAP2B,SRGAP2 EXON Nonsense_R46X,Nonsense_R46X,Nonsense_R46X,Nonsense_R46X exm143276 1 206516364 [T/C] NM_001170637,NM_001271872,NM_001271870,NM_015326 SRGAP2,SRGAP2C,SRGAP2B,SRGAP2 Silent,Silent,Silent,Silent exm143290 1 206566940 [T/C] NM_001170637,NM_001271872,NM_001271870,NM_015326,NM_001271887 SRGAP2,SRGAP2C,SRGAP2B,SRGAP2,SRGAP2D EXON Nonsense_Q161X,Nonsense_Q161X,Nonsense_Q161X,Nonsense_Q161X,Synonymous_I94I exm143292 1 206566947 [T/C] NM_001170637,NM_001271872,NM_001271870,NM_015326,NM_001271887 SRGAP2,SRGAP2C,SRGAP2B,SRGAP2,SRGAP2D EXON Missense_P163L,Missense_P163L,Missense_P163L,Missense_P163L,Missense_R97W rs2244510 1 206595069 [T/C] NM_001170637,NM_015326 SRGAP2,SRGAP2 Silent,Silent rs12060726 1 206595436 [A/G] NM_001170637,NM_015326 SRGAP2,SRGAP2 Silent,Silent exm143308 1 206603535 [A/G] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Missense_G419S,Missense_G420S rs2297539 1 206603535 [A/G] NM_001170637,NM_015326 SRGAP2,SRGAP2 EXON Missense_G419S,Missense_G420S rs2336938 1 206618799 [A/C] NM_001170637,NM_015326 SRGAP2,SRGAP2 Silent,Silent 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 rs2483060 1 206623952 [T/C] NM_001170637,NM_015326 SRGAP2,SRGAP2 Silent,Silent 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 rs12130290 1 206627177 [A/G] NM_001170637,NM_015326 SRGAP2,SRGAP2 Silent,Silent rs3813982 1 206629674 [A/G] NM_001170637,NM_015326 SRGAP2,SRGAP2 Silent,Silent 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 rs1930438 1 206643106 [T/C] 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 rs2297545 1 206651107 [A/G] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Synonymous_T239T,Synonymous_T239T,Synonymous_T154T 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 rs10863389 1 206656292 [T/C] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE Silent,Silent,Silent 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 rs12059562 1 206665052 [T/C] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Missense_A602V,Missense_A602V,Missense_A517V 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 rs4844539 1 206668239 [A/G] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE Silent,Silent,Silent exm143535 1 206669465 [T/C] NM_001193322,NM_014002,NM_001193321 IKBKE,IKBKE,IKBKE EXON Silent,Missense_P713L,Missense_P628L rs3860295 1 206676331 [A/G] exm143549 1 206681383 [T/C] NM_182663,NM_182664 RASSF5,RASSF5 EXON Missense_R150C,Missense_R150C rs874718 1 206684977 [A/C] NM_182663,NM_182664 RASSF5,RASSF5 Silent,Silent rs7523985 1 206709535 [T/G] NM_182663,NM_182664 RASSF5,RASSF5 Silent,Silent exm143555 1 206711608 [A/G] NM_182663,NM_182664 RASSF5,RASSF5 EXON Missense_V189M,Missense_V189M rs9661909 1 206714818 [T/C] NM_182663,NM_182664 RASSF5,RASSF5 Silent,Silent rs11119009 1 206720225 [A/G] NM_182663,NM_182664 RASSF5,RASSF5 Silent,Silent rs12569261 1 206727260 [A/G] NM_182663,NM_182664 RASSF5,RASSF5 Silent,Silent rs6669685 1 206734044 [T/C] NM_182663,NM_182664,NM_182665 RASSF5,RASSF5,RASSF5 Silent,Silent,Silent rs4844540 1 206736573 [A/G] NM_182663,NM_182664,NM_182665 RASSF5,RASSF5,RASSF5 Silent,Silent,Silent rs10779478 1 206744191 [T/C] NM_182663,NM_182664,NM_182665 RASSF5,RASSF5,RASSF5 Silent,Silent,Silent rs7512541 1 206748424 [T/C] NM_182663,NM_182664,NM_182665 RASSF5,RASSF5,RASSF5 Silent,Silent,Silent 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 rs4240840 1 206759622 [A/G] NM_182663,NM_182664,NM_182665 RASSF5,RASSF5,RASSF5 Silent,Silent,Silent rs7531197 1 206759864 [T/C] NM_182663,NM_182664,NM_182665 RASSF5,RASSF5,RASSF5 Silent,Silent,Silent variant.9632 1 206760189 [A/C] NM_182663,NM_182664,NM_182665 RASSF5,RASSF5,RASSF5 EXON Missense_N379T,Silent,Missense_N226T rs11584983 1 206769047 [T/C] NM_006893,NM_001201478 EIF2D,EIF2D Silent,Silent variant.9634 1 206770445 [A/G] NM_006893,NM_001201478 EIF2D,EIF2D Silent,Silent exm143607 1 206770544 [C/G] NM_006893,NM_001201478 EIF2D,EIF2D EXON Missense_L432V,Missense_L308V exm143610 1 206772388 [T/C] NM_006893,NM_001201478 EIF2D,EIF2D EXON Missense_K421E,Missense_K297E rs4845116 1 206772753 [A/G] NM_006893,NM_001201478 EIF2D,EIF2D Silent,Silent variant.9636 1 206772944 [A/C] NM_006893,NM_001201478 EIF2D,EIF2D EXON Nonsense_E359X,Nonsense_E235X variant.9638 1 206773148 [A/G] NM_006893,NM_001201478 EIF2D,EIF2D EXON Nonsense_Q331X,Nonsense_Q207X exm143622 1 206773157 [T/G] NM_006893,NM_001201478 EIF2D,EIF2D EXON Missense_Q328K,Missense_Q204K variant.9639 1 206773612 [T/C] NM_006893,NM_001201478 EIF2D,EIF2D Silent,Silent exm143628 1 206773658 [T/C] NM_006893,NM_001201478 EIF2D,EIF2D EXON Missense_E303K,Missense_E179K rs6658181 1 206776097 [A/G] NM_006893,NM_001201478 EIF2D,EIF2D Silent,Silent exm143642 1 206776460 [A/G] NM_006893,NM_001201478 EIF2D,EIF2D EXON Missense_T210I,Silent exm143652 1 206781634 [T/A] NM_006893,NM_001201478 EIF2D,EIF2D EXON Missense_Q126L,Missense_Q126L indel.9641 1 206784666 [I/D] NM_006893,NM_001201478 EIF2D,EIF2D EXON exm143658 1 206784681 [T/C] NM_006893,NM_001201478 EIF2D,EIF2D EXON Missense_T35A,Missense_T35A rs6681092 1 206788556 [T/C] rs4497204 1 206790076 [A/G] rs6659397 1 206796165 [T/C] rs4845119 1 206796179 [A/G] rs7549114 1 206803101 [A/G] exm1748505 1 206811017 [A/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_T14A,Missense_T34A exm143674 1 206811042 [A/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_K22R,Missense_K42R exm143675 1 206811048 [T/C] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_P24L,Missense_P44L indel.9643 1 206811053 [I/D] NM_001004023,NM_003582 DYRK3,DYRK3 EXON variant.9644 1 206811106 [T/C] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Synonymous_N43N,Synonymous_N63N rs6540512 1 206813737 [A/G] NM_001004023,NM_003582 DYRK3,DYRK3 Silent,Silent exm1748508 1 206820790 [T/A] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_M63L,Missense_M83L exm143676 1 206820793 [A/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_K64E,Missense_K84E exm143679 1 206821032 [T/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_I143M,Missense_I163M var_1_206821147 1 206821147 [T/C] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Nonsense_R182X,Nonsense_R202X exm143685 1 206821238 [A/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_R212Q,Missense_R232Q exm143689 1 206821285 [T/C] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_R228C,Missense_R248C exm143690 1 206821286 [A/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_R228H,Missense_R248H exm143701 1 206821480 [T/C] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_R293C,Missense_R313C exm143703 1 206821533 [T/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_K310N,Missense_K330N exm143718 1 206821856 [A/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_R418H,Missense_R438H indel.9646 1 206821857 [I/D] NM_001004023,NM_003582 DYRK3,DYRK3 EXON exm143721 1 206821952 [A/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_R450H,Missense_R470H indel.9648 1 206822248 [I/D] NM_001004023,NM_003582 DYRK3,DYRK3 EXON exm143726 1 206822264 [A/G] NM_001004023,NM_003582 DYRK3,DYRK3 EXON Missense_N554S,Missense_N574S rs10863766 1 206825605 [T/C] rs7512726 1 206832961 [T/C] rs12140926 1 206835985 [T/C] rs17014035 1 206841857 [A/C] rs4844550 1 206857407 [A/G] rs4845130 1 206872487 [A/G] NM_032960,NM_004759 MAPKAPK2,MAPKAPK2 Silent,Silent rs12060808 1 206877337 [T/C] NM_032960,NM_004759 MAPKAPK2,MAPKAPK2 Silent,Silent exm2250511 1 206879122 [T/G] NM_032960,NM_004759 MAPKAPK2,MAPKAPK2 Silent,Silent rs4256810 1 206890449 [T/C] 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 newrs190801417 1 206905149 [A/G] NM_032960,NM_004759 MAPKAPK2,MAPKAPK2 Silent,Silent 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 rs6692511 1 206927516 [T/C] exm-rs3024505 1 206939904 [A/G] newrs142726516 1 206941989 [A/G] NM_000572 IL10 EXON Nonsense_R177X 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 rs1800871 1 206946634 [A/G] exm-rs1800871 1 206946634 [A/G] rs1800896 1 206946897 [T/C] rs885334 1 206962416 [T/C] rs6683473 1 206967152 [T/C] rs11583394 1 206968893 [T/C] exm143836 1 206972307 [A/C] NM_153758 IL19 EXON Missense_H23P variant.9653 1 206972356 [A/G] NM_153758 IL19 Silent rs12042283 1 206974779 [T/C] NM_153758 IL19 Silent rs7540516 1 206986545 [A/C] NM_153758 IL19 Silent rs11119670 1 207005321 [T/C] NM_153758,NM_013371 IL19,IL19 Silent,Silent rs2243158 1 207007641 [C/G] NM_153758,NM_013371 IL19,IL19 EXON Silent,Silent rs2243170 1 207009910 [T/C] NM_153758,NM_013371 IL19,IL19 Silent,Silent exm143841 1 207010072 [A/G] NM_153758,NM_013371 IL19,IL19 EXON Missense_N60S,Missense_N22S variant.9654 1 207010151 [T/C] NM_153758,NM_013371 IL19,IL19 EXON Synonymous_I86I,Synonymous_I48I 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 rs2243191 1 207015957 [T/C] NM_153758,NM_013371 IL19,IL19 EXON Missense_F213S,Missense_F175S exm143856 1 207015957 [T/C] NM_153758,NM_013371 IL19,IL19 EXON Missense_F213S,Missense_F175S rs2883036 1 207024762 [T/C] rs1033272 1 207030985 [T/C] rs574773 1 207032751 [T/C] indel.9656 1 207039217 [D/I] NM_018724 IL20 EXON indel.9657 1 207039282 [I/D] NM_018724 IL20 EXON exm143857 1 207039288 [A/G] NM_018724 IL20 EXON Missense_G31R exm143859 1 207039345 [C/G] NM_018724 IL20 EXON Missense_R50G newrs3024516 1 207039361 [A/G] NM_018724 IL20 Silent exm143862 1 207039710 [T/G] NM_018724 IL20 Silent variant.9660 1 207039827 [A/G] NM_018724 IL20 Silent exm143864 1 207039838 [T/C] NM_018724 IL20 EXON Nonsense_R79X newrs141716593 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 rs3762344 1 207068672 [A/G] exm143879 1 207071206 [T/C] NM_001185156,NM_001185157,NM_006850,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_L10P,Missense_L10P,Missense_L10P,Missense_L10P variant.9662 1 207071226 [A/G] NM_001185156,NM_001185157,NM_006850,NM_001185158 IL24,IL24,IL24,IL24 Silent,Silent,Silent,Silent exm143889 1 207072749 [A/G] NM_001185156,NM_001185157,NM_006850,NM_001185158 IL24,IL24,IL24,IL24 EXON Nonsense_W44X,Nonsense_W44X,Nonsense_W43X,Silent variant.9665 1 207072819 [T/C] NM_001185156,NM_001185157,NM_006850,NM_001185158 IL24,IL24,IL24,IL24 EXON Nonsense_Q68X,Nonsense_Q68X,Nonsense_Q67X,Silent indel.9666 1 207073644 [D/I] NM_001185156,NM_001185157,NM_006850,NM_001185158 IL24,IL24,IL24,IL24 EXON newrs144126009 1 207073659 [T/C] NM_001185156,NM_001185157,NM_006850,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_T88M,Missense_T88M,Missense_T87M,Nonsense_R22X exm143896 1 207073701 [T/C] NM_001185156,NM_001185157,NM_006850,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_S102L,Missense_S102L,Missense_S101L,Missense_R36C exm143903 1 207074905 [T/C] NM_001185156,NM_001185157,NM_006850,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_Y125H,Silent,Missense_Y124H,Silent exm143904 1 207074909 [A/G] NM_001185156,NM_001185157,NM_006850,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_H126R,Silent,Missense_H125R,Silent exm143905 1 207074926 [C/G] NM_001185156,NM_001185157,NM_006850,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_V132L,Silent,Missense_V131L,Silent exm143916 1 207075400 [T/C] NM_001185156,NM_001185157,NM_006850,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_R175W,Missense_R122W,Missense_R174W,Synonymous_S55S exm143918 1 207076321 [T/G] NM_001185156,NM_001185157,NM_006850,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_L181V,Missense_L128V,Missense_L180V,Missense_S61R exm143921 1 207076376 [T/C] NM_001185156,NM_001185157,NM_006850,NM_001185158 IL24,IL24,IL24,IL24 EXON Missense_T199I,Missense_T146I,Missense_T198I,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 rs12121499 1 207080565 [T/C] NM_001193338,NM_005449,NM_001142473 FAIM3,FAIM3,FAIM3 Silent,Silent,Silent 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 rs94872 1 207086845 [T/C] NM_001193338,NM_005449,NM_001142473 FAIM3,FAIM3,FAIM3 Silent,Silent,Silent 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 variant.9670 1 207095163 [T/C] NM_001193338,NM_005449,NM_001142473 FAIM3,FAIM3,FAIM3 EXON Missense_V13I,Missense_V13I,Missense_E13K variant.9671 1 207095188 [T/C] NM_001193338,NM_005449,NM_001142473 FAIM3,FAIM3,FAIM3 EXON Nonsense_W4X,Nonsense_W4X,Nonsense_W4X indel.9673 1 207105067 [D/I] NM_002644 PIGR EXON 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 rs2275531 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 rs6697345 1 207130317 [A/C] exm144091 1 207131878 [T/C] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_R573G,Silent,Silent exm144095 1 207133035 [T/C] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_R521K,Missense_E254K,Missense_E254K exm144097 1 207133093 [T/C] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_T502A,Synonymous_L234L,Synonymous_L234L exm144098 1 207133113 [T/C] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_R495Q,Missense_G228R,Missense_G228R exm144100 1 207133127 [A/G] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Synonymous_D490D,Missense_M223T,Missense_M223T exm144104 1 207133774 [T/C] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_V483M,Silent,Silent exm144107 1 207133830 [A/G] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_T464I,Silent,Silent exm144111 1 207133867 [T/G] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_L452I,Silent,Silent exm144114 1 207134104 [T/G] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_L373I,Silent,Silent exm144117 1 207134226 [T/C] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_S332N,Silent,Silent exm144118 1 207134365 [T/C] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_A286T,Silent,Silent exm144122 1 207134410 [T/G] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_T271P,Silent,Silent 1KG_1_207134526 1 207134526 [D/I] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON exm144134 1 207135670 [A/C] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_L180F,Missense_L180F,Missense_L180F exm144140 1 207135723 [A/G] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_H163Y,Missense_H163Y,Missense_H163Y exm144142 1 207135752 [T/C] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_Q153R,Missense_Q153R,Missense_Q153R exm144145 1 207135810 [T/C] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_V134I,Missense_V134I,Missense_V134I exm144146 1 207135812 [T/G] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_S133Y,Missense_S133Y,Missense_S133Y exm144147 1 207135828 [A/G] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_H128Y,Missense_H128Y,Missense_H128Y rs11576146 1 207139046 [A/G] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR Silent,Silent,Silent exm144155 1 207139123 [A/G] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_R84W,Missense_R84W,Missense_R84W exm144165 1 207140447 [T/C] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_R40K,Missense_R40K,Missense_R40K variant.9679 1 207140928 [T/G] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Missense_H36Q,Missense_H36Q,Missense_H36Q variant.9680 1 207140941 [A/C] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR EXON Nonsense_L32X,Nonsense_L32X,Nonsense_L32X rs17018470 1 207141876 [A/G] NM_001170631,NM_032029,NM_001122979 FCAMR,FCAMR,FCAMR Silent,Silent,Silent rs2353550 1 207146837 [A/G] rs2842716 1 207152472 [A/G] rs6672060 1 207159378 [A/C] rs2791708 1 207162433 [T/C] rs2629646 1 207178900 [A/C] rs764317 1 207187406 [T/C] rs10864026 1 207187497 [A/G] 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 rs6693011 1 207195735 [T/C] NM_001083924,NM_023938 C1orf116,C1orf116 EXON Synonymous_P212P,Synonymous_P458P 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 rs2842738 1 207209643 [A/G] rs11120092 1 207211161 [A/G] exm144280 1 207222375 [C/G] NM_001276320,NM_018566 YOD1,YOD1 EXON Missense_G302A,Missense_G346A exm144281 1 207222381 [T/C] NM_001276320,NM_018566 YOD1,YOD1 EXON Missense_N300S,Missense_N344S exm144288 1 207222471 [T/C] NM_001276320,NM_018566 YOD1,YOD1 EXON Missense_N270S,Missense_N314S exm2250516 1 207223055 [A/G] NM_001276320,NM_018566 YOD1,YOD1 EXON Synonymous_I75I,Synonymous_I119I 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 rs2629639 1 207236524 [A/G] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Synonymous_A115A,Synonymous_A115A 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 rs1565 1 207250570 [A/G] NM_001018053,NM_006212 PFKFB2,PFKFB2 EXON Silent,Silent 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_000716,NM_001017364,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB EXON Missense_A12V,Missense_A12V,Missense_A12V,Missense_A12V,Missense_A12V rs6690037 1 207263829 [A/G] NM_001017366,NM_001017365,NM_000716,NM_001017364,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB Silent,Silent,Silent,Silent,Silent exm144403 1 207265060 [A/C] NM_001017366,NM_001017365,NM_000716,NM_001017364,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB EXON Missense_K101Q,Missense_K102Q,Missense_K102Q,Missense_K101Q,Missense_K102Q exm-rs3813948 1 207269858 [T/C] NM_001017366,NM_001017365,NM_000716,NM_001017364,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB Silent,Silent,Silent,Silent,Silent exm144418 1 207271511 [A/G] NM_001017366,NM_001017365,NM_000716,NM_001017364,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB EXON Missense_V173M,Missense_V174M,Missense_V174M,Missense_V173M,Missense_V174M indel.9691 1 207271584 [I/D] NM_001017366,NM_001017365,NM_000716,NM_001017364,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB EXON exm144423 1 207271587 [A/C] NM_001017366,NM_001017365,NM_000716,NM_001017364,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB EXON Missense_K198T,Missense_K199T,Missense_K199T,Missense_K198T,Missense_K199T exm144429 1 207273209 [A/G] NM_001017366,NM_001017365,NM_000716,NM_001017364,NM_001017367 C4BPB,C4BPB,C4BPB,C4BPB,C4BPB EXON Missense_T231A,Missense_T232A,Missense_T232A,Missense_T231A,Missense_T232A rs11120211 1 207276379 [A/G] 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 rs4259650 1 207293496 [A/G] NM_000715 C4BPA Silent 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 rs4571969 1 207305588 [T/C] NM_000715 C4BPA Silent exm144499 1 207307932 [A/G] NM_000715 C4BPA EXON Missense_G423E rs7524207 1 207311481 [T/C] NM_000715 C4BPA Silent rs12091603 1 207314356 [A/C] NM_000715 C4BPA Silent exm144502 1 207317172 [A/G] NM_000715 C4BPA EXON Missense_R485Q exm144508 1 207317935 [T/C] NM_000715 C4BPA EXON Missense_M556T rs6666604 1 207345819 [T/G] rs6672985 1 207360067 [T/C] rs1429909 1 207369066 [T/C] rs10864144 1 207402853 [T/C] rs7543834 1 207403840 [A/G] rs17258843 1 207414732 [T/C] rs6540896 1 207440851 [T/C] rs11584921 1 207441975 [A/G] rs12134133 1 207457845 [A/G] rs1652333 1 207470460 [A/G] indel.9695 1 207495732 [I/D] NM_001114752,NM_000574 CD55,CD55 EXON exm144514 1 207495871 [T/G] NM_001114752,NM_000574 CD55,CD55 EXON Missense_L82R,Missense_L82R variant.9697 1 207495882 [T/C] NM_001114752,NM_000574 CD55,CD55 EXON Nonsense_Q86X,Nonsense_Q86X exm144524 1 207498973 [T/C] NM_001114752,NM_000574 CD55,CD55 EXON Missense_S162L,Missense_S162L rs4844591 1 207500293 [T/C] NM_001114752,NM_000574 CD55,CD55 Silent,Silent 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 newrs140013480 1 207504642 [T/G] NM_001114752,NM_000574 CD55,CD55 Silent,Silent rs7544288 1 207509022 [A/G] NM_001114752,NM_000574 CD55,CD55 Silent,Silent indel.9699 1 207510046 [I/D] NM_001114752,NM_000574 CD55,CD55 EXON variant.9700 1 207510168 [A/G] NM_001114752,NM_000574 CD55,CD55 Silent,Silent 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] rs11117564 1 207536971 [A/C] rs12116783 1 207556770 [T/C] rs2940252 1 207573387 [A/C] rs2661361 1 207578194 [T/G] rs2135924 1 207594943 [A/G] rs6656123 1 207595822 [T/C] exm144577 1 207639979 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_R56H,Missense_R56H exm2232378 1 207640012 [G/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_T67S,Missense_T67S exm144579 1 207640054 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_K81R,Missense_K81R rs1032980 1 207640345 [T/G] NM_001006658,NM_001877 CR2,CR2 Silent,Silent exm144594 1 207641950 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_P175L,Missense_P175L indel.9702 1 207642015 [I/D] NM_001006658,NM_001877 CR2,CR2 EXON indel.9703 1 207642016 [I/D] NM_001006658,NM_001877 CR2,CR2 EXON indel.9704 1 207642044 [D/I] NM_001006658,NM_001877 CR2,CR2 EXON exm144602 1 207642151 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_R214H,Missense_R214H exm144603 1 207642168 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Nonsense_R220X,Nonsense_R220X exm144612 1 207642500 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_R247Q,Missense_R247Q exm144617 1 207643142 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_P307L,Missense_P307L exm144618 1 207643192 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_R324C,Missense_R324C exm1748837 1 207643295 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_R358K,Missense_R358K exm144630 1 207643316 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_Q365R,Missense_Q365R exm144631 1 207643339 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_D373N,Missense_D373N exm144632 1 207643362 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_M380I,Missense_M380I exm144647 1 207644249 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_P464S,Missense_P464S variant.9707 1 207644262 [A/G] NM_001006658,NM_001877 CR2,CR2 Silent,Silent exm144653 1 207644414 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_N492S,Missense_N492S exm144655 1 207644786 [T/A] NM_001006658,NM_001877 CR2,CR2 EXON Missense_S504R,Missense_S504R variant.9708 1 207644844 [T/G] NM_001006658,NM_001877 CR2,CR2 EXON Nonsense_E524X,Nonsense_E524X exm144660 1 207646168 [T/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_S541I,Missense_S541I exm144665 1 207646222 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_G559E,Missense_G559E exm144675 1 207646462 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_S639N,Missense_S639N exm144676 1 207646477 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_C644Y,Missense_C644Y exm144679 1 207646898 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_S663P,Silent exm144681 1 207646923 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_R671H,Silent exm144683 1 207646941 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_T677M,Silent exm144699 1 207647643 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Nonsense_W766X,Nonsense_W707X indel.9713 1 207648268 [I/D] NM_001006658,NM_001877 CR2,CR2 EXON exm144714 1 207648499 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_R885H,Missense_R826H indel.9714 1 207648530 [D/I] NM_001006658,NM_001877 CR2,CR2 EXON variant.9715 1 207648566 [T/G] NM_001006658,NM_001877 CR2,CR2 Silent,Silent exm144716 1 207649585 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_I908T,Missense_I849T exm144720 1 207649609 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_T916I,Missense_T857I exm144723 1 207649698 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_V946M,Missense_V887M exm144731 1 207651360 [G/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_Q1011H,Missense_Q952H exm144732 1 207651374 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_S1016L,Missense_S957L exm144735 1 207651395 [A/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_P1023H,Missense_P964H exm-rs17045328 1 207652176 [A/G] NM_001006658,NM_001877 CR2,CR2 Silent,Silent exm144740 1 207653364 [A/G] NM_001006658,NM_001877 CR2,CR2 EXON Missense_I1052V,Missense_I993V exm144743 1 207653395 [A/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_A1062E,Missense_A1003E exm144744 1 207653397 [T/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_R1063C,Missense_R1004C variant.9717 1 207653400 [T/C] NM_001006658,NM_001877 CR2,CR2 Silent,Silent rs12021671 1 207658145 [A/G] NM_001006658,NM_001877 CR2,CR2 Silent,Silent exm144750 1 207658871 [A/C] NM_001006658,NM_001877 CR2,CR2 EXON Missense_S1084Y,Missense_S1025Y rs2182911 1 207660071 [T/C] NM_001006658,NM_001877 CR2,CR2 Silent,Silent rs1571344 1 207670928 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent rs7533408 1 207673631 [T/C] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm144765 1 207679398 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_V91I,Missense_V91I exm144767 1 207679429 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm144777 1 207680154 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_K133E,Missense_K133E rs11117956 1 207684359 [T/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm-rs6656401 1 207692049 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent rs932859 1 207695880 [T/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm144874 1 207755285 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_V1297I,Missense_V1747I exm144875 1 207755348 [T/C] NM_000573,NM_000651 CR1,CR1 EXON Missense_H1318Y,Missense_H1768Y var_1_207755348 1 207755348 [T/C] NM_000573,NM_000651 CR1,CR1 EXON Missense_H1318Y,Missense_H1768Y variant.9725 1 207755349 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent rs12034598 1 207757515 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent variant.9726 1 207760729 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm144887 1 207760772 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_T1408A,Missense_T1858A exm144888 1 207760773 [T/C] NM_000573,NM_000651 CR1,CR1 EXON Missense_T1408M,Missense_T1858M exm144891 1 207760805 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_G1419R,Missense_G1869R exm144895 1 207760852 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_M1434I,Missense_M1884I exm144899 1 207762095 [T/C] NM_000573,NM_000651 CR1,CR1 EXON Missense_T1479I,Missense_T1929I rs3738468 1 207762358 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm1748936 1 207780596 [T/G] NM_000573,NM_000651 CR1,CR1 EXON Synonymous_G1487G,Synonymous_G1937G rs17047631 1 207781200 [T/C] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm144906 1 207782682 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_S1532G,Missense_S1982G exm144908 1 207782707 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_N1540S,Missense_N1990S exm144910 1 207782769 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_V1561M,Missense_V2011M exm144917 1 207782856 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_K1590E,Missense_K2040E rs17047660 1 207782856 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_K1590E,Missense_K2040E exm144919 1 207782889 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_R1601G,Missense_R2051G exm144922 1 207782916 [A/T] NM_000573,NM_000651 CR1,CR1 EXON Missense_T1610S,Missense_T2060S exm144924 1 207782931 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_I1615V,Missense_I2065V exm144926 1 207782953 [T/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_G1622V,Missense_G2072V rs3818361 1 207784968 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm-rs3818361 1 207784968 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent variant.9728 1 207785021 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm-rs6701713 1 207786289 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm144947 1 207787763 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_G1747D,Missense_G2197D indel.9729 1 207789955 [D/I] NM_000573,NM_000651 CR1,CR1 EXON exm144953 1 207790018 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_D1804N,Missense_D2254N exm2232390 1 207790033 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_R1809G,Missense_R2259G exm144961 1 207791434 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_K1853R,Missense_K2303R exm144965 1 207791535 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_G1887S,Missense_G2337S exm2250518 1 207793289 [A/C] NM_000573,NM_000651 CR1,CR1 EXON Synonymous_V1927V,Synonymous_V2377V exm144971 1 207793289 [A/C] NM_000573,NM_000651 CR1,CR1 EXON Synonymous_V1927V,Synonymous_V2377V var_1_207793410 1 207793410 [T/C] NM_000573,NM_000651 CR1,CR1 EXON Missense_R1968C,Missense_R2418C exm144975 1 207793411 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm144976 1 207795320 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_T1969A,Missense_T2419A rs12034383 1 207803595 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm-rs12034383 1 207803595 [A/G] NM_000573,NM_000651 CR1,CR1 Silent,Silent exm144981 1 207803936 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_R2026Q,Missense_R2476Q exm144982 1 207803947 [A/G] NM_000573,NM_000651 CR1,CR1 EXON Missense_T2030A,Missense_T2480A exm1748962 1 207803958 [T/A] NM_000573,NM_000651 CR1,CR1 EXON Missense_E2033D,Missense_E2483D rs10779339 1 207814451 [T/C] NM_000573,NM_000651 CR1,CR1 EXON Silent,Silent rs1323721 1 207823240 [A/G] NM_175710 CR1L Silent rs10863461 1 207840776 [A/G] NM_175710 CR1L Silent rs12567945 1 207841934 [T/C] NM_175710 CR1L Silent rs10494884 1 207847876 [T/C] NM_175710 CR1L Silent exm144996 1 207850743 [A/G] NM_175710 CR1L EXON Missense_N36S indel.9734 1 207850758 [I/D] NM_175710 CR1L EXON 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 variant.9735 1 207851642 [T/G] NM_175710 CR1L EXON Missense_G126V var_1_207851643 1 207851643 [A/G] NM_175710 CR1L Silent 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 indel.9738 1 207871014 [I/D] NM_175710 CR1L EXON exm145061 1 207871155 [A/G] NM_175710 CR1L EXON Missense_G360D rs7527798 1 207872290 [T/C] NM_175710 CR1L Silent exm-rs7527798 1 207872290 [T/C] NM_175710 CR1L Silent rs4844614 1 207875175 [T/G] NM_175710 CR1L Silent exm-rs4844614 1 207875175 [T/G] NM_175710 CR1L Silent rs12073783 1 207875431 [A/G] NM_175710 CR1L Silent exm145072 1 207881605 [T/C] NM_175710 CR1L EXON Nonsense_Q471X rs1998538 1 207886487 [A/G] NM_175710 CR1L Silent exm145076 1 207890818 [A/G] NM_175710 CR1L EXON Missense_C475Y exm145085 1 207890961 [T/C] NM_175710 CR1L EXON Missense_R523C variant.9740 1 207891037 [A/G] NM_175710 CR1L Silent rs2761424 1 207893782 [T/C] NM_175710 CR1L Silent rs11118475 1 207894416 [A/G] NM_175710 CR1L Silent rs2761429 1 207910058 [T/C] exm145089 1 207925595 [T/C] NM_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 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 rs2724384 1 207930203 [A/G] NM_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm145090 1 207930459 [A/T] NM_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 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_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 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_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 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_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 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 rs2724387 1 207932617 [T/G] NM_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm145110 1 207940370 [A/G] NM_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 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_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 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_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 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_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Synonymous_S302S,Synonymous_S287S,Silent,Synonymous_S302S,Silent,Silent,Silent,Synonymous_S287S exm2250520 1 207941128 [A/G] NM_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Synonymous_S302S,Synonymous_S287S,Silent,Synonymous_S302S,Silent,Silent,Silent,Synonymous_S287S indel.9743 1 207941153 [D/I] NM_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON exm145140 1 207943690 [T/C] NM_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_P324L,Missense_P309L,Missense_P294L,Missense_P324L,Silent,Missense_P294L,Missense_P294L,Missense_P309L rs2796278 1 207955823 [A/C] NM_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7541230 1 207957555 [T/C] NM_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm145146 1 207958446 [T/C] NM_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_A353V,Missense_A338V,Missense_A323V,Missense_A353V,Missense_A309V,Missense_A323V,Missense_A323V,Missense_A338V variant.9746 1 207959027 [A/G] NM_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_G376D,Missense_G361D,Silent,Missense_G376E,Missense_G332E,Missense_G346D,Missense_G346E,Missense_G361E exm145155 1 207963618 [T/C] NM_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_T383I,Missense_T368I,Silent,Silent,Silent,Missense_T353I,Silent,Silent newrs146803767 1 207963618 [T/C] NM_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON Missense_T383I,Missense_T368I,Silent,Silent,Silent,Missense_T353I,Silent,Silent indel.9750 1 207966923 [D/I] NM_002389,NM_172351,NM_172350,NM_172359,NM_172361,NM_172352,NM_172353,NM_153826 CD46,CD46,CD46,CD46,CD46,CD46,CD46,CD46 EXON exm-rs12731740 1 208024820 [T/C] rs2796241 1 208027459 [A/C] rs7550821 1 208029947 [T/C] rs984984 1 208035088 [T/G] rs2952 1 208049077 [T/C] rs2745948 1 208051059 [T/C] rs694748 1 208055666 [A/C] rs7572 1 208060009 [T/C] NM_001025109,NM_001773 CD34,CD34 EXON Silent,Silent 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 rs2259397 1 208068579 [T/C] NM_001025109,NM_001773 CD34,CD34 Silent,Silent rs2796254 1 208069137 [A/G] NM_001025109,NM_001773 CD34,CD34 Silent,Silent rs2488250 1 208069877 [A/G] NM_001025109,NM_001773 CD34,CD34 Silent,Silent 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 variant.9752 1 208073165 [T/C] NM_001025109,NM_001773 CD34,CD34 Silent,Silent 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 rs1932819 1 208078238 [A/G] NM_001025109,NM_001773 CD34,CD34 Silent,Silent rs2473653 1 208101656 [T/C] rs614732 1 208112125 [T/C] rs1074327 1 208127490 [A/C] exm-rs2745967 1 208128722 [A/G] rs11579848 1 208128855 [A/G] rs652727 1 208164369 [T/C] exm2250521 1 208164440 [A/G] rs586683 1 208168613 [T/G] rs6666839 1 208177525 [A/G] rs481764 1 208184956 [T/C] rs2745945 1 208188196 [T/C] rs16808 1 208190623 [T/G] exm145229 1 208200640 [T/C] NM_025179 PLXNA2 EXON Missense_R1878Q rs841862 1 208203281 [A/G] NM_025179 PLXNA2 Silent rs3811386 1 208204399 [T/G] NM_025179 PLXNA2 Silent 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 rs3736963 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 rs12734403 1 208213653 [A/G] NM_025179 PLXNA2 Silent exm145312 1 208215558 [T/G] NM_025179 PLXNA2 EXON Missense_M1391L exm145346 1 208219267 [T/C] NM_025179 PLXNA2 EXON Missense_T1151A rs6540451 1 208225357 [A/G] NM_025179 PLXNA2 Silent exm145370 1 208225805 [G/C] NM_025179 PLXNA2 EXON Missense_P954A rs841865 1 208225909 [A/G] NM_025179 PLXNA2 Silent 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 rs4844634 1 208234388 [T/G] NM_025179 PLXNA2 Silent rs10863692 1 208243860 [A/G] NM_025179 PLXNA2 Silent rs2478816 1 208244853 [A/G] NM_025179 PLXNA2 Silent 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 rs7540179 1 208253883 [A/G] NM_025179 PLXNA2 Silent 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 rs10863694 1 208262786 [T/C] NM_025179 PLXNA2 Silent rs2478806 1 208265612 [T/G] NM_025179 PLXNA2 Silent rs2148699 1 208267578 [T/C] NM_025179 PLXNA2 Silent 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 rs3818517 1 208270244 [A/C] NM_025179 PLXNA2 Silent exm145440 1 208272311 [C/G] NM_025179 PLXNA2 EXON Missense_C537W exm145441 1 208272313 [A/C] NM_025179 PLXNA2 EXON Missense_C537G rs11118988 1 208296083 [A/G] NM_025179 PLXNA2 Silent rs6540454 1 208298239 [A/G] NM_025179 PLXNA2 Silent exm2264946 1 208299199 [A/G] NM_025179 PLXNA2 Silent rs895241 1 208302633 [T/C] NM_025179 PLXNA2 Silent rs859499 1 208309240 [A/G] NM_025179 PLXNA2 Silent exm145446 1 208315674 [T/C] NM_025179 PLXNA2 EXON Synonymous_Q502Q rs1875431 1 208321118 [T/C] NM_025179 PLXNA2 Silent rs600031 1 208325244 [A/G] NM_025179 PLXNA2 Silent rs6697350 1 208327039 [A/G] NM_025179 PLXNA2 Silent rs2590688 1 208328224 [A/G] NM_025179 PLXNA2 Silent exm-rs4844649 1 208337392 [A/G] NM_025179 PLXNA2 Silent rs895237 1 208341500 [A/C] NM_025179 PLXNA2 Silent rs12033110 1 208349259 [A/G] NM_025179 PLXNA2 Silent rs6673048 1 208353855 [T/C] NM_025179 PLXNA2 Silent rs1609841 1 208367614 [A/G] NM_025179 PLXNA2 Silent rs17012158 1 208369825 [T/C] NM_025179 PLXNA2 Silent rs10863703 1 208375738 [T/C] NM_025179 PLXNA2 Silent rs10863704 1 208382156 [T/C] 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 rs1537693 1 208404823 [T/C] NM_025179 PLXNA2 Silent rs2782934 1 208408503 [A/G] NM_025179 PLXNA2 Silent rs1335045 1 208414033 [T/C] NM_025179 PLXNA2 Silent rs1620298 1 208419288 [T/C] rs1781030 1 208424205 [T/C] rs12058868 1 208424905 [T/C] rs1445355 1 208432764 [T/C] rs11119027 1 208433883 [A/G] rs6703732 1 208443170 [T/C] rs1617731 1 208447524 [T/C] rs11119032 1 208453274 [T/C] rs6704329 1 208461343 [A/G] rs3121647 1 208464118 [T/G] rs1762463 1 208477423 [A/C] rs17012371 1 208494119 [A/C] rs12402159 1 208507857 [T/C] rs4844419 1 208510805 [A/G] rs1499577 1 208511351 [A/C] rs7543864 1 208515347 [A/G] rs7519519 1 208529031 [A/G] rs696981 1 208549846 [T/C] rs12138270 1 208552368 [A/G] rs701641 1 208554185 [T/C] rs1499588 1 208557123 [A/G] rs696979 1 208558547 [T/C] rs2163039 1 208561353 [T/C] rs710417 1 208578200 [A/G] rs696944 1 208583530 [A/C] rs710420 1 208593803 [A/G] rs12037447 1 208605593 [A/G] rs6662504 1 208606109 [A/G] rs701618 1 208611123 [A/G] rs12089705 1 208622869 [A/G] rs12122106 1 208623242 [A/C] rs701615 1 208658283 [T/C] rs2000161 1 208674351 [A/G] rs7551719 1 208676383 [A/G] rs12036920 1 208677005 [A/G] rs1417953 1 208701907 [A/G] rs10863714 1 208710593 [A/G] rs7548249 1 208719848 [T/C] rs17012827 1 208732621 [T/C] rs17012886 1 208741251 [T/C] rs6540478 1 208755605 [T/C] rs17187582 1 208755804 [A/G] exm-rs17259784 1 208757586 [G/C] rs17259791 1 208761593 [T/C] rs12029495 1 208766610 [T/C] rs10779489 1 208772958 [A/C] rs6694783 1 208777606 [T/G] rs869521 1 208777895 [A/G] rs17259861 1 208781486 [T/G] rs1417077 1 208781507 [T/C] rs1340113 1 208787740 [A/G] rs12122043 1 208789949 [A/G] rs4391668 1 208804925 [T/G] rs2404678 1 208805287 [A/G] rs1166868 1 208813119 [T/C] exm2263869 1 208830611 [A/C] rs1340117 1 208830611 [A/C] rs12565141 1 208836238 [T/C] rs6664062 1 208855395 [T/C] rs10863723 1 208860293 [A/G] rs11119111 1 208864258 [T/C] rs1166879 1 208897416 [T/C] rs12063248 1 208897975 [T/C] rs4844437 1 208905262 [T/G] rs12404464 1 208929732 [A/G] rs12076253 1 208930265 [A/G] rs17013220 1 208935974 [A/G] rs17259916 1 208937403 [T/G] rs6690048 1 208941395 [T/G] rs11119127 1 208948034 [A/G] rs12076644 1 208949367 [A/G] rs1166923 1 208960876 [T/C] rs17013392 1 208968409 [T/G] rs1166907 1 208974935 [T/C] rs10863726 1 208986593 [A/G] rs12408989 1 209007778 [A/C] exm2250524 1 209034761 [A/G] rs12569218 1 209034761 [A/G] rs7515208 1 209052333 [A/G] rs12130305 1 209073907 [A/C] rs4844732 1 209083609 [T/C] rs7368359 1 209088514 [T/C] rs7516842 1 209100322 [A/C] rs12738015 1 209113459 [A/C] rs4129434 1 209114372 [T/C] rs10735503 1 209117500 [T/G] rs6697933 1 209121854 [T/C] rs1924250 1 209129752 [T/C] rs10863734 1 209141386 [A/C] rs6685924 1 209149149 [A/G] rs7549301 1 209162412 [T/C] rs10863739 1 209162928 [A/G] rs1078550 1 209181761 [A/G] rs4554722 1 209182220 [A/C] rs2807403 1 209182651 [A/G] rs4844743 1 209192139 [T/C] rs11119208 1 209211968 [A/G] rs17013958 1 209214390 [T/C] rs6685963 1 209222499 [T/C] rs10735505 1 209233483 [A/G] rs7540125 1 209238603 [A/C] rs6540503 1 209239811 [T/C] rs10494916 1 209245859 [T/G] rs6692331 1 209256181 [A/G] rs1174556 1 209276472 [A/G] rs11119220 1 209283460 [A/G] rs6694118 1 209291638 [A/G] rs6540511 1 209305123 [A/C] rs11119229 1 209316021 [T/C] rs10779502 1 209317968 [T/C] rs17187974 1 209325941 [T/C] rs6672714 1 209331789 [A/G] rs11119231 1 209336246 [T/C] rs4844779 1 209345380 [T/G] rs2970558 1 209380481 [T/G] rs10863764 1 209400118 [A/G] rs6419460 1 209412567 [T/C] rs2788154 1 209420098 [A/G] rs2843170 1 209456703 [T/C] rs1553623 1 209460346 [T/C] rs2495295 1 209489688 [T/C] rs1021993 1 209512373 [A/G] rs10494924 1 209527706 [T/G] rs17014370 1 209540091 [A/G] rs12142846 1 209560036 [T/C] rs7548177 1 209575391 [A/G] exm2263847 1 209581483 [A/C] rs1988163 1 209581483 [A/C] rs742678 1 209588509 [T/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 rs6690362 1 209608020 [A/C] rs6679530 1 209619557 [T/C] rs2179655 1 209621776 [A/C] rs11577136 1 209628156 [A/G] rs7526722 1 209632204 [T/C] rs10863774 1 209643416 [T/C] rs17014581 1 209660134 [T/C] rs4844840 1 209661527 [A/C] rs17014586 1 209662378 [T/C] rs17014649 1 209682162 [T/C] rs4844477 1 209685058 [T/C] rs1883356 1 209694672 [A/G] exm2259940 1 209697447 [T/C] rs17014696 1 209705655 [A/C] rs2356932 1 209706685 [A/G] rs12130212 1 209727257 [A/T] rs10746420 1 209728590 [T/C] rs11119309 1 209742782 [A/G] rs6695896 1 209745395 [T/G] rs17014820 1 209756419 [A/C] rs926386 1 209758758 [T/C] NM_020439 CAMK1G Silent newrs140469539 1 209768335 [T/C] NM_020439 CAMK1G EXON Nonsense_R3X exm145553 1 209768356 [A/G] NM_020439 CAMK1G EXON Missense_S10G variant.9763 1 209768421 [T/G] NM_020439 CAMK1G Silent rs6690557 1 209768979 [T/G] NM_020439 CAMK1G Silent exm145559 1 209773416 [T/C] NM_020439 CAMK1G EXON Missense_R61W rs9430004 1 209775800 [T/C] NM_020439 CAMK1G Silent rs12402938 1 209779355 [A/G] NM_020439 CAMK1G Silent rs760833 1 209781125 [T/C] NM_020439 CAMK1G Silent rs6658827 1 209782121 [T/G] NM_020439 CAMK1G Silent exm145587 1 209783222 [C/G] NM_020439 CAMK1G EXON Missense_E259Q exm145595 1 209784873 [T/G] NM_020439 CAMK1G EXON Missense_K297N variant.9764 1 209784893 [A/G] NM_020439 CAMK1G EXON Nonsense_W304X 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 rs2272880 1 209786078 [A/G] NM_020439 CAMK1G Silent rs2206107 1 209786883 [T/C] NM_020439 CAMK1G EXON Silent rs2566 1 209788514 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Silent,Silent,Silent exm145641 1 209788656 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_H1160R,Missense_H1160R,Missense_H1160R exm145645 1 209788699 [A/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_D1146Y,Missense_D1146Y,Missense_D1146Y exm145650 1 209788731 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R1135Q,Missense_R1135Q,Missense_R1135Q exm2232404 1 209789830 [T/A] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_M1123K,Missense_M1123K,Missense_M1123K exm145652 1 209789875 [A/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_V1108G,Missense_V1108G,Missense_V1108G exm145653 1 209789887 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R1104Q,Missense_R1104Q,Missense_R1104Q exm145660 1 209790859 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R1042W,Missense_R1042W,Missense_R1042W exm145662 1 209790915 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R1023Q,Missense_R1023Q,Missense_R1023Q exm145666 1 209791293 [T/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_T1004P,Missense_T1004P,Missense_T1004P exm145669 1 209791340 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R988Q,Missense_R988Q,Missense_R988Q exm2275542 1 209791341 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R988W,Missense_R988W,Missense_R988W exm145670 1 209791358 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_D982G,Missense_D982G,Missense_D982G exm145672 1 209791370 [G/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_G978A,Missense_G978A,Missense_G978A exm145678 1 209791833 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R958H,Missense_R958H,Missense_R958H exm145683 1 209791911 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_M932T,Missense_M932T,Missense_M932T rs2076222 1 209791929 [T/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_A926D,Missense_A926D,Missense_A926D exm145684 1 209791929 [T/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_A926D,Missense_A926D,Missense_A926D exm145686 1 209791960 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_V916M,Missense_V916M,Missense_V916M exm145688 1 209791983 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_T908I,Missense_T908I,Missense_T908I exm145700 1 209796018 [C/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_A855G,Missense_A855G,Missense_A855G exm145701 1 209796329 [A/T] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_M852L,Missense_M852L,Missense_M852L exm145702 1 209796341 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R848W,Missense_R848W,Missense_R848W exm145703 1 209796364 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R840Q,Missense_R840Q,Missense_R840Q exm1749351 1 209796948 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R754W,Missense_R754W,Missense_R754W exm145714 1 209796950 [A/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_V753G,Missense_V753G,Missense_V753G exm145724 1 209797061 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R716Q,Missense_R716Q,Missense_R716Q exm145728 1 209797253 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_N690S,Missense_N690S,Missense_N690S exm145729 1 209797256 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_F689S,Missense_F689S,Missense_F689S var_1_209797286 1 209797286 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_P679L,Missense_P679L,Missense_P679L exm145736 1 209797344 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Nonsense_R660X,Nonsense_R660X,Nonsense_R660X exm145740 1 209799066 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Nonsense_R635X,Nonsense_R635X,Nonsense_R635X exm145746 1 209799107 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_A621V,Missense_A621V,Missense_A621V exm145749 1 209799150 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_A607T,Missense_A607T,Missense_A607T exm145752 1 209799177 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R598C,Missense_R598C,Missense_R598C exm145753 1 209799192 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R593W,Missense_R593W,Missense_R593W exm145762 1 209799264 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Nonsense_R569X,Nonsense_R569X,Nonsense_R569X exm145766 1 209799292 [A/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_L559F,Missense_L559F,Missense_L559F exm145772 1 209800230 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_V527M,Missense_V527M,Missense_V527M exm1749365 1 209800865 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R450C,Missense_R450C,Missense_R450C exm145801 1 209801394 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_P425L,Missense_P425L,Missense_P425L rs2076351 1 209801519 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Synonymous_P383P,Synonymous_P383P,Synonymous_P383P exm145817 1 209803118 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R366W,Missense_R366W,Missense_R366W exm145820 1 209803163 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_E351K,Missense_E351K,Missense_E351K exm145822 1 209803199 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_Y339H,Missense_Y339H,Missense_Y339H exm1749379 1 209803974 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_A310V,Missense_A310V,Missense_A310V exm145830 1 209803992 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_P304L,Missense_P304L,Missense_P304L exm1749381 1 209804028 [A/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R292L,Missense_R292L,Missense_R292L exm145840 1 209805938 [T/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_T271N,Missense_T271N,Missense_T271N exm2250527 1 209805973 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Synonymous_C259C,Synonymous_C259C,Synonymous_C259C exm145845 1 209806016 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R245H,Missense_R245H,Missense_R245H exm145847 1 209806061 [G/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R230T,Missense_R230T,Missense_R230T variant.9776 1 209806427 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Nonsense_Q206X,Nonsense_Q206X,Nonsense_Q206X exm145851 1 209806461 [A/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_M194I,Missense_M194I,Missense_M194I variant.9777 1 209806480 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 Silent,Silent,Silent rs12410975 1 209807782 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 Silent,Silent,Silent exm145854 1 209807799 [A/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_G186V,Missense_G186V,Missense_G186V exm145856 1 209807809 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R183C,Missense_R183C,Missense_R183C exm145857 1 209807815 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_N181D,Missense_N181D,Missense_N181D exm145863 1 209807952 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R135H,Missense_R135H,Missense_R135H exm145869 1 209811293 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_D111G,Missense_D111G,Missense_D111G rs2072941 1 209811595 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 Silent,Silent,Silent rs2298928 1 209822859 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 Silent,Silent,Silent exm145876 1 209823367 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R42Q,Missense_R42Q,Missense_R42Q exm145879 1 209823403 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_V30A,Missense_V30A,Missense_V30A exm145880 1 209823424 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R23H,Missense_R23H,Missense_R23H exm145881 1 209823425 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON Missense_R23C,Missense_R23C,Missense_R23C indel.9782 1 209823460 [D/I] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 EXON variant.9783 1 209823465 [T/C] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 Silent,Silent,Silent rs2076358 1 209823936 [A/G] NM_001127641,NM_001017402,NM_000228 LAMB3,LAMB3,LAMB3 Silent,Silent,Silent rs11580294 1 209839374 [A/G] rs4844486 1 209844517 [A/C] kgp15876736 1 209848853 [A/G] NM_015714 G0S2 EXON Silent kgp2722084 1 209849002 [T/C] NM_015714 G0S2 EXON Silent 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 kgp7039066 1 209849535 [T/G] NM_015714 G0S2 EXON Silent GA001645 1 209849721 [A/C] NM_015714 G0S2 EXON Silent kgp5152845 1 209849722 [T/C] NM_015714 G0S2 EXON Silent rs846908 1 209858453 [A/G] kgp15267080 1 209859620 [A/G] NM_181755,NM_001206741 HSD11B1,HSD11B1 EXON Silent,Silent rs10863782 1 209872590 [A/G] NM_181755,NM_001206741 HSD11B1,HSD11B1 Silent,Silent rs13306421 1 209878286 [A/G] NM_181755,NM_001206741,NM_005525 HSD11B1,HSD11B1,HSD11B1 EXON Silent,Silent,Silent 1KG_1_209879176 1 209879176 [I/D] NM_181755,NM_001206741,NM_005525 HSD11B1,HSD11B1,HSD11B1 EXON kgp15549310 1 209879184 [T/C] NM_181755,NM_001206741,NM_005525 HSD11B1,HSD11B1,HSD11B1 EXON Synonymous_V39V,Synonymous_V39V,Synonymous_V39V kgp2845044 1 209879232 [A/G] NM_181755,NM_001206741,NM_005525 HSD11B1,HSD11B1,HSD11B1 EXON Synonymous_A55A,Synonymous_A55A,Synonymous_A55A newrs12086634 1 209880259 [T/G] NM_181755,NM_001206741,NM_005525 HSD11B1,HSD11B1,HSD11B1 Silent,Silent,Silent rs12059226 1 209906675 [A/G] NM_181755,NM_001206741,NM_005525 HSD11B1,HSD11B1,HSD11B1 Silent,Silent,Silent kgp15808422 1 209908025 [T/C] NM_181755,NM_001206741,NM_005525 HSD11B1,HSD11B1,HSD11B1 EXON Silent,Silent,Silent kgp6225125 1 209908100 [A/G] NM_181755,NM_001206741,NM_005525 HSD11B1,HSD11B1,HSD11B1 EXON Silent,Silent,Silent rs4844891 1 209914409 [A/C] rs7532324 1 209918090 [A/G] rs6702301 1 209923154 [T/C] rs2272866 1 209929453 [T/G] NM_025228 TRAF3IP3 EXON Silent rs10489341 1 209932121 [T/C] NM_025228 TRAF3IP3 Silent 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 rs654984 1 209937382 [T/C] NM_025228 TRAF3IP3 Silent exm2268822 1 209939599 [T/C] NM_025228 TRAF3IP3 Silent exm145978 1 209946310 [G/C] NM_025228 TRAF3IP3 EXON Missense_D240E indel.9788 1 209948836 [I/D] NM_025228 TRAF3IP3 rs649275 1 209950681 [T/C] NM_025228 TRAF3IP3 Silent exm145993 1 209950760 [G/C] NM_025228 TRAF3IP3 EXON Missense_Q373E variant.9793 1 209953956 [A/G] NM_025228 TRAF3IP3 Silent rs651141 1 209955848 [A/C] NM_152485 C1orf74 EXON Silent 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 rs1044516 1 209959614 [T/G] NM_006147,NM_001206696 IRF6,IRF6 EXON Silent,Silent exm146060 1 209961970 [C/G] NM_006147,NM_001206696 IRF6,IRF6 EXON Missense_R400P,Missense_R305P exm146069 1 209963841 [A/G] NM_006147,NM_001206696 IRF6,IRF6 EXON Synonymous_S353S,Synonymous_S258S exm146075 1 209964080 [T/C] NM_006147,NM_001206696 IRF6,IRF6 EXON Missense_V274I,Missense_V179I rs2235371 1 209964080 [T/C] NM_006147,NM_001206696 IRF6,IRF6 EXON Missense_V274I,Missense_V179I exm1749474 1 209964095 [T/C] NM_006147,NM_001206696 IRF6,IRF6 EXON Missense_V269I,Missense_V174I exm146077 1 209964123 [T/C] NM_006147,NM_001206696 IRF6,IRF6 EXON Missense_M259I,Missense_M164I exm146081 1 209965660 [T/C] NM_006147,NM_001206696 IRF6,IRF6 EXON Missense_I207M,Missense_I112M exm146082 1 209968637 [T/C] NM_006147,NM_001206696 IRF6,IRF6 EXON Missense_N169S,Missense_N74S rs2013162 1 209968684 [A/C] NM_006147,NM_001206696 IRF6,IRF6 EXON Synonymous_S153S,Synonymous_S58S rs17015259 1 209982923 [A/G] exm-rs10863790 1 209988047 [A/C] exm-rs642961 1 209989270 [A/G] rs9430018 1 209996542 [T/G] rs11584081 1 209997448 [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 rs656566 1 210006603 [T/C] NM_014388 DIEXF EXON Synonymous_P154P exm146132 1 210010204 [A/G] NM_014388 DIEXF EXON Missense_K237R indel.9799 1 210010321 [D/I] NM_014388 DIEXF EXON exm146137 1 210010324 [G/C] NM_014388 DIEXF EXON Missense_P277R exm146144 1 210010488 [T/C] NM_014388 DIEXF EXON Missense_R332C indel.9801 1 210012215 [D/I] NM_014388 DIEXF 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 rs583814 1 210020971 [T/C] NM_014388 DIEXF Silent rs17015379 1 210023765 [A/G] NM_014388 DIEXF Silent 1KG_1_210024646 1 210024646 [D/I] NM_014388 DIEXF EXON rs7548533 1 210040672 [T/C] rs7537070 1 210043565 [A/G] rs12063989 1 210049893 [T/C] rs932347 1 210055630 [T/C] rs6674507 1 210066145 [A/C] rs12140373 1 210086539 [A/G] rs7528647 1 210122322 [A/G] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent rs1040425 1 210134548 [A/G] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent rs12034991 1 210145298 [A/G] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent rs7525980 1 210156770 [A/G] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent rs4844936 1 210176869 [T/C] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent exm146235 1 210187118 [A/G] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_R113G,Missense_R113G,Missense_R68G,Missense_R68G,Missense_R30G,Silent exm146241 1 210194555 [T/C] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_S178L,Missense_S178L,Missense_S133L,Missense_S133L,Missense_S95L,Silent exm146243 1 210194557 [A/G] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_A179T,Missense_A179T,Missense_A134T,Missense_A134T,Missense_A96T,Silent rs11119394 1 210194685 [A/G] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent rs227228 1 210197495 [T/C] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent exm146246 1 210267700 [T/C] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_P204L,Missense_P204L,Missense_P159L,Missense_P159L,Missense_P121L,Silent exm146254 1 210267896 [A/T] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_E269D,Missense_E269D,Missense_E224D,Missense_E224D,Missense_E186D,Silent exm146257 1 210273357 [A/G] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_D284N,Missense_D284N,Missense_D239N,Missense_D239N,Missense_D201N,Silent exm146264 1 210273523 [A/G] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_G339D,Missense_G339D,Missense_G294D,Missense_G294D,Missense_G256D,Silent exm146268 1 210273697 [A/G] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_R397H,Missense_R397H,Missense_R352H,Missense_R352H,Missense_R314H,Silent rs2130628 1 210291476 [A/G] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent rs2046850 1 210304319 [T/C] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent rs1002382 1 210312760 [A/G] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent rs10494925 1 210331377 [A/G] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 Silent,Silent,Silent,Silent,Silent,Silent exm146281 1 210334143 [A/G] NM_001146261,NM_001146264,NM_153262,NM_001146262,NM_001256006,NR_027459 SYT14,SYT14,SYT14,SYT14,SYT14,SYT14 EXON Missense_R539H,Missense_R520H,Missense_R475H,Missense_R494H,Missense_R437H,Silent rs11119426 1 210340969 [A/G] rs2485893 1 210348155 [A/G] rs12569033 1 210354380 [T/C] rs12567108 1 210354442 [A/G] rs12094311 1 210369136 [A/G] rs11812030 1 210370700 [T/C] rs2485901 1 210370761 [T/G] rs2485902 1 210370851 [A/G] rs2485888 1 210374337 [A/C] rs2185059 1 210386561 [A/G] rs2494184 1 210386892 [T/C] rs591594 1 210394270 [A/G] rs663987 1 210399239 [A/G] rs677520 1 210399652 [T/C] rs2273047 1 210406106 [T/G] NR_024337 SERTAD4-AS1 Silent 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 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 rs654523 1 210413739 [T/C] NM_019605 SERTAD4 Silent 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] rs634601 1 210421594 [T/C] rs685532 1 210443474 [T/C] rs6666540 1 210443546 [T/C] rs689248 1 210463122 [T/C] rs633352 1 210467047 [A/G] rs12117063 1 210486746 [A/C] rs6666552 1 210494973 [A/G] rs6697682 1 210500594 [A/G] rs589027 1 210505726 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs1999890 1 210510894 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs6696657 1 210518082 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs1338289 1 210519658 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent variant.9803 1 210522329 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Nonsense_R4X,Nonsense_R4X,Nonsense_R4X,Silent,Nonsense_R4X,Nonsense_R4X exm146361 1 210522387 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_Y23C,Missense_Y23C,Missense_Y23C,Silent,Missense_Y23C,Missense_Y23C rs10489388 1 210527418 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs4845004 1 210528907 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs4845006 1 210529582 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm146362 1 210536197 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_E31D,Missense_E31D,Missense_E31D,Missense_E32D,Missense_E31D,Missense_E31D exm146367 1 210536249 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_G49R,Missense_G49R,Missense_G49R,Missense_G50R,Missense_G49R,Missense_G49R newrs149074859 1 210536268 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs17016036 1 210537248 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs3765874 1 210543246 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs3765871 1 210547213 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs3819987 1 210550034 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs2294845 1 210553523 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent variant.9805 1 210560831 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Nonsense_W60X,Nonsense_W60X,Nonsense_W60X,Nonsense_W61X,Nonsense_W60X,Nonsense_W60X exm146375 1 210560867 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_V72G,Missense_V72G,Missense_V72G,Missense_V73G,Missense_V72G,Missense_V72G rs3765863 1 210561713 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs1076708 1 210567430 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs6540592 1 210572449 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm146381 1 210573873 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_P112L,Silent,Missense_P112L,Missense_P113L,Silent,Missense_P112L exm146385 1 210573929 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_R131W,Silent,Missense_R131W,Missense_R132W,Silent,Missense_R131W rs10863825 1 210577134 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm146397 1 210577884 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_S182N,Silent,Missense_S182N,Missense_S183N,Missense_S117N,Missense_S182N exm146398 1 210577901 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_C188R,Silent,Missense_C188R,Missense_C189R,Missense_C123R,Missense_C188R rs3765857 1 210582538 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs2357586 1 210589655 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm2268823 1 210590153 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs926579 1 210590153 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,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_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_R250H,Missense_R113H,Missense_R250H,Missense_R251H,Missense_R185H,Missense_R250H rs4845021 1 210598837 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs926578 1 210607991 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs3765851 1 210613616 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12121798 1 210615064 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12025108 1 210620492 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs742563 1 210622527 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs3819985 1 210622790 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12025490 1 210631289 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm146417 1 210637927 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_R312H,Missense_R175H,Missense_R312H,Missense_R313H,Missense_R247H,Missense_R312H exm146422 1 210637959 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_R323C,Missense_R186C,Missense_R323C,Missense_R324C,Missense_R258C,Missense_R323C exm146424 1 210637989 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_G333R,Missense_G196R,Missense_G333R,Missense_G334R,Missense_G268R,Missense_G333R rs981754 1 210641438 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs7530369 1 210647296 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12031180 1 210652685 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs2473621 1 210660195 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs6675248 1 210664959 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs7546331 1 210665583 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12748886 1 210672483 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12759944 1 210674600 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs6672183 1 210679612 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs10863837 1 210683732 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs10746425 1 210687396 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs11119524 1 210694931 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs6691759 1 210699389 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs4845045 1 210707065 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs1316508 1 210710747 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs2069151 1 210717147 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12130516 1 210721874 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12040304 1 210729897 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs2501910 1 210736508 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs17016475 1 210737854 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12217125 1 210750063 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm146431 1 210761310 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_T371I,Missense_T234I,Missense_T371I,Missense_T372I,Missense_T306I,Missense_T371I exm146435 1 210761346 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_D383G,Missense_D246G,Missense_D383G,Missense_D384G,Missense_D318G,Missense_D383G exm146438 1 210761373 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_N392S,Missense_N255S,Missense_N392S,Missense_N393S,Missense_N327S,Missense_N392S exm146441 1 210761405 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_R403W,Missense_R266W,Missense_R403W,Missense_R404W,Missense_R338W,Missense_R403W rs6682840 1 210763491 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs11119547 1 210772300 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12745924 1 210775500 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs6540610 1 210781750 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm146451 1 210796970 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_G449D,Missense_G312D,Missense_G449D,Missense_G450D,Missense_G384D,Missense_G449D rs4951675 1 210800547 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs3935665 1 210807437 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs6683572 1 210818347 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs6540617 1 210823634 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs12121954 1 210830431 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs1890843 1 210836847 [T/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs10746432 1 210837691 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs7413508 1 210839705 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent rs1970425 1 210840755 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT Silent,Silent,Silent,Silent,Silent,Silent exm146458 1 210847683 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_V482M,Missense_V345M,Missense_V482M,Missense_V483M,Missense_V417M,Missense_V482M exm146460 1 210847696 [T/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Missense_W486L,Missense_W349L,Missense_W486L,Missense_W487L,Missense_W421L,Missense_W486L rs4366378 1 210847740 [A/C] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Silent,Silent,Silent,Silent,Silent,Silent rs10863850 1 210848224 [A/G] NM_001122834,NM_001170564,NM_018194,NM_001170587,NM_001170588,NM_001170580 HHAT,HHAT,HHAT,HHAT,HHAT,HHAT EXON Silent,Silent,Silent,Silent,Silent,Silent exm146477 1 210856825 [T/G] NM_172362,NM_002238 KCNH1,KCNH1 EXON Missense_Q923P,Missense_Q896P exm146488 1 210857092 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 EXON Missense_R834H,Missense_R807H exm146493 1 210857116 [A/C] NM_172362,NM_002238 KCNH1,KCNH1 EXON Missense_G826V,Missense_G799V exm146504 1 210857225 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 EXON Missense_V790M,Missense_V763M exm146511 1 210857261 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 EXON Missense_A778T,Missense_A751T exm146513 1 210857266 [G/C] NM_172362,NM_002238 KCNH1,KCNH1 EXON Missense_A776G,Missense_A749G exm146518 1 210857431 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 EXON Missense_M721T,Missense_M694T rs12141923 1 210860558 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6540619 1 210862656 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6686046 1 210874099 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6681860 1 210893635 [A/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1538755 1 210893875 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1953951 1 210901459 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent exm2250565 1 210902915 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1890844 1 210907239 [A/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs10494929 1 210927618 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs9430048 1 210930435 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1777264 1 210939931 [A/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1777255 1 210955200 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6694502 1 210967608 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs7553708 1 210978485 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1573159 1 210982084 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs10863858 1 210983994 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs7532949 1 210984565 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6658580 1 210985460 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs4282878 1 210990713 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1418973 1 210994339 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs4098807 1 211000020 [T/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6695591 1 211002232 [T/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs7556358 1 211006126 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs17016986 1 211014027 [T/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs9701252 1 211041590 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs12122965 1 211047777 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs11119624 1 211047846 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1125262 1 211057186 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs924569 1 211079618 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1777250 1 211082285 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1160575 1 211085683 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs4951487 1 211088400 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1875435 1 211089156 [T/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1501555 1 211097125 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs1354112 1 211098350 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs7529770 1 211108733 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs12566456 1 211135613 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6680997 1 211163369 [T/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs7526579 1 211185917 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs924568 1 211187663 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs10494931 1 211187730 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs12760791 1 211188937 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs11582507 1 211191894 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs12134819 1 211202705 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6540647 1 211208401 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs12124026 1 211218816 [A/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6540652 1 211230021 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs4620600 1 211255936 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs946143 1 211258161 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs9970961 1 211263253 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs12735839 1 211267168 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6660415 1 211282681 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs4512717 1 211288097 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs6540658 1 211296202 [A/G] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent variant.9813 1 211307204 [T/C] NM_172362,NM_002238 KCNH1,KCNH1 Silent,Silent rs3811395 1 211308116 [A/G] rs2185069 1 211311215 [A/G] rs6540664 1 211331893 [A/G] rs9430058 1 211339584 [T/C] rs1572650 1 211351594 [T/C] rs3111229 1 211363628 [T/C] rs1538286 1 211372063 [T/C] rs1361193 1 211383129 [T/C] exm2259961 1 211383129 [T/C] rs3125829 1 211405423 [T/C] exm2268824 1 211415358 [T/C] rs11811405 1 211425658 [T/G] indel.9814 1 211433511 [I/D] NM_001136225,NM_001136224,NM_001136223,NM_018254 RCOR3,RCOR3,RCOR3,RCOR3 rs6679980 1 211433672 [T/C] NM_001136225,NM_001136224,NM_001136223,NM_018254 RCOR3,RCOR3,RCOR3,RCOR3 Silent,Silent,Silent,Silent variant.9815 1 211444651 [T/C] NM_001136225,NM_001136224,NM_001136223,NM_018254 RCOR3,RCOR3,RCOR3,RCOR3 EXON Synonymous_L101L,Synonymous_L101L,Synonymous_L101L,Synonymous_L43L rs11580084 1 211447625 [A/G] NM_001136225,NM_001136224,NM_001136223,NM_018254 RCOR3,RCOR3,RCOR3,RCOR3 Silent,Silent,Silent,Silent exm146593 1 211451474 [A/G] NM_001136225,NM_001136224,NM_001136223,NM_018254 RCOR3,RCOR3,RCOR3,RCOR3 EXON Missense_I178V,Missense_I178V,Missense_I178V,Missense_I120V rs17017360 1 211476489 [T/C] NM_001136225,NM_001136224,NM_001136223,NM_018254 RCOR3,RCOR3,RCOR3,RCOR3 Silent,Silent,Silent,Silent 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 rs6540679 1 211491152 [A/G] rs17017394 1 211491284 [A/G] exm146624 1 211526627 [T/C] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Missense_R16C,Missense_R16C,Missense_R16C variant.9816 1 211526630 [T/C] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Nonsense_Q17X,Nonsense_Q17X,Nonsense_Q17X exm146626 1 211526639 [A/G] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Missense_G20S,Missense_G20S,Missense_G20S variant.9817 1 211526710 [A/C] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Nonsense_Y43X,Nonsense_Y43X,Nonsense_Y43X 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 rs2292483 1 211533027 [A/G] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 Silent,Silent,Silent 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 variant.9818 1 211538796 [T/C] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Nonsense_Q259X,Nonsense_Q259X,Nonsense_Q259X variant.9819 1 211538808 [T/C] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON Nonsense_Q263X,Nonsense_Q263X,Nonsense_Q263X 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 1KG_1_211545666 1 211545666 [I/D] NM_004619,NM_001033910,NM_145759 TRAF5,TRAF5,TRAF5 EXON 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 rs17017451 1 211557908 [T/C] NR_026761 LINC00467 Silent rs784378 1 211566366 [A/G] NR_026761 LINC00467 Silent rs784379 1 211566760 [A/G] NR_026761 LINC00467 Silent rs11580728 1 211614280 [T/C] rs1663517 1 211621170 [T/C] rs1361031 1 211645082 [T/C] 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 rs11119751 1 211663221 [T/C] NM_001164688,NM_183059 RD3,RD3 Silent,Silent rs10863899 1 211666218 [A/G] NM_001164688,NM_183059 RD3,RD3 EXON Silent,Silent rs11587632 1 211668437 [T/C] rs1578838 1 211671118 [T/G] exm2268825 1 211675279 [T/C] rs12403299 1 211676378 [T/C] rs11119754 1 211678947 [T/C] rs753646 1 211686121 [A/G] rs10863911 1 211686860 [T/C] rs2120671 1 211690993 [A/C] rs4951761 1 211694012 [A/G] rs11119758 1 211694198 [A/G] exm-rs1614866 1 211700658 [A/G] rs7525277 1 211705317 [A/G] rs6679498 1 211712690 [T/C] rs2165993 1 211730036 [A/G] rs7530862 1 211736470 [T/C] exm146746 1 211749038 [T/C] NM_021194 SLC30A1 EXON Missense_V406I rs6702177 1 211774350 [T/C] rs9430074 1 211776105 [T/C] rs7546959 1 211785039 [A/G] rs12736496 1 211798430 [T/C] rs6660850 1 211806784 [T/C] rs10779564 1 211809449 [A/G] exm-rs10158309 1 211813550 [T/C] rs1373293 1 211815287 [T/C] rs7516189 1 211828134 [A/G] rs2028706 1 211831380 [A/C] rs894852 1 211835786 [A/G] NM_001204182 NEK2 Silent exm146778 1 211836799 [A/G] NM_001204182,NM_002497 NEK2,NEK2 EXON Silent,Missense_L436P rs10158205 1 211837911 [T/C] NM_001204182,NM_002497 NEK2,NEK2 Silent,Silent 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 newrs146817802 1 211842488 [A/G] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 EXON Nonsense_R318X,Nonsense_R318X,Nonsense_R318X exm146792 1 211842494 [A/G] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 EXON Nonsense_R316X,Nonsense_R316X,Nonsense_R316X indel.9825 1 211842647 [I/D] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 EXON rs697004 1 211842808 [A/C] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 Silent,Silent,Silent 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 rs11119790 1 211845859 [A/G] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 Silent,Silent,Silent 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 var_1_211847857 1 211847857 [T/C] NM_001204182,NM_002497,NM_001204183 NEK2,NEK2,NEK2 Silent,Silent,Silent rs10494940 1 211856601 [T/C] rs6661565 1 211859925 [A/G] rs12096414 1 211877481 [A/G] rs12569332 1 211886246 [T/C] rs7533652 1 211887918 [T/C] rs7512315 1 211893655 [A/G] rs701911 1 211905584 [T/C] rs3862952 1 211914587 [A/G] rs10494942 1 211916142 [T/C] rs12566620 1 211920427 [T/C] NM_014873 LPGAT1 EXON Silent rs10465691 1 211920624 [A/G] NM_014873 LPGAT1 EXON Silent exm146851 1 211952321 [T/C] NM_014873 LPGAT1 EXON Missense_I265V exm146854 1 211956700 [T/C] NM_014873 LPGAT1 EXON Missense_K200E rs12038038 1 211994671 [T/C] NM_014873 LPGAT1 Silent exm146863 1 212002523 [T/C] NM_014873 LPGAT1 EXON Missense_Y39C exm146867 1 212002613 [A/G] NM_014873 LPGAT1 EXON Missense_P9L kgp22734082 1 212005392 [T/C] kgp12224477 1 212007681 [T/C] rs2970582 1 212080831 [T/C] rs17018191 1 212090728 [A/G] rs2788124 1 212092918 [T/C] rs2788140 1 212104854 [T/C] indel.9830 1 212115252 [I/D] NM_001199812,NM_001199809,NR_037667,NM_015434,NM_001199811 INTS7,INTS7,INTS7,INTS7,INTS7 EXON exm146872 1 212115314 [T/C] NM_001199812,NM_001199809,NR_037667,NM_015434,NM_001199811 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_N894S,Missense_N865S,Silent,Missense_N914S,Missense_N900S exm146886 1 212120028 [T/C] NM_001199812,NM_001199809,NR_037667,NM_015434,NM_001199811 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Silent,Missense_N730S,Silent,Missense_N779S,Missense_N765S variant.9831 1 212125909 [A/G] NM_001199812,NM_001199809,NR_037667,NM_015434,NM_001199811 INTS7,INTS7,INTS7,INTS7,INTS7 Silent,Silent,Silent,Silent,Silent exm146897 1 212141905 [T/C] NM_001199812,NM_001199809,NR_037667,NM_015434,NM_001199811 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_A654T,Missense_A605T,Silent,Missense_A654T,Missense_A654T indel.9834 1 212148523 [D/I] NM_001199812,NM_001199809,NR_037667,NM_015434,NM_001199811 INTS7,INTS7,INTS7,INTS7,INTS7 EXON exm146904 1 212149967 [T/C] NM_001199812,NM_001199809,NR_037667,NM_015434,NM_001199811 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_N522S,Missense_N473S,Silent,Missense_N522S,Missense_N522S rs3010004 1 212152173 [T/C] NM_001199812,NM_001199809,NR_037667,NM_015434,NM_001199811 INTS7,INTS7,INTS7,INTS7,INTS7 Silent,Silent,Silent,Silent,Silent exm146913 1 212154442 [A/G] NM_001199812,NM_001199809,NR_037667,NM_015434,NM_001199811 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_T408I,Missense_T359I,Silent,Missense_T408I,Missense_T408I rs17018311 1 212155008 [T/C] NM_001199812,NM_001199809,NR_037667,NM_015434,NM_001199811 INTS7,INTS7,INTS7,INTS7,INTS7 Silent,Silent,Silent,Silent,Silent exm146920 1 212156041 [A/G] NM_001199812,NM_001199809,NR_037667,NM_015434,NM_001199811 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_I370T,Missense_I321T,Silent,Missense_I370T,Missense_I370T exm146926 1 212161239 [T/C] NM_001199812,NM_001199809,NR_037667,NM_015434,NM_001199811 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_S329N,Missense_S280N,Silent,Missense_S329N,Missense_S329N exm146927 1 212161258 [T/C] NM_001199812,NM_001199809,NR_037667,NM_015434,NM_001199811 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_A323T,Missense_A274T,Silent,Missense_A323T,Missense_A323T exm146929 1 212161344 [A/G] NM_001199812,NM_001199809,NR_037667,NM_015434,NM_001199811 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_A294V,Missense_A245V,Silent,Missense_A294V,Missense_A294V exm146937 1 212180608 [A/G] NM_001199812,NM_001199809,NR_037667,NM_015434,NM_001199811 INTS7,INTS7,INTS7,INTS7,INTS7 EXON Missense_V247A,Missense_V198A,Silent,Missense_V247A,Missense_V247A rs2993531 1 212190116 [A/C] NM_001199812,NM_001199809,NR_037667,NM_015434,NM_001199811 INTS7,INTS7,INTS7,INTS7,INTS7 Silent,Silent,Silent,Silent,Silent exm2250642 1 212190116 [A/C] NM_001199812,NM_001199809,NR_037667,NM_015434,NM_001199811 INTS7,INTS7,INTS7,INTS7,INTS7 Silent,Silent,Silent,Silent,Silent exm146963 1 212209243 [A/G] NM_016448 DTL EXON Missense_N4S variant.9836 1 212216339 [A/G] NM_016448 DTL EXON Nonsense_W19X exm-rs10863936 1 212237798 [A/G] NM_016448 DTL Silent rs17018414 1 212239845 [T/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 variant.9837 1 212273611 [T/C] NM_016448 DTL EXON Nonsense_Q427X exm147024 1 212273797 [A/G] NM_016448 DTL EXON Missense_V489I exm147028 1 212273891 [T/C] NM_016448 DTL EXON Missense_S520L indel.9838 1 212273979 [D/I] NM_016448 DTL EXON 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 rs1387815 1 212277107 [T/G] NM_016448 DTL EXON Silent rs7545292 1 212279058 [T/G] rs6690208 1 212295571 [T/C] rs11809969 1 212301643 [A/G] rs4951438 1 212324488 [T/C] rs7540143 1 212324535 [T/C] rs11119860 1 212332294 [T/C] rs12139237 1 212333126 [T/C] rs11119865 1 212344323 [T/C] rs903124 1 212348372 [T/G] rs10863949 1 212350402 [T/C] rs6703980 1 212350975 [A/G] rs4325202 1 212351181 [T/C] rs12039815 1 212355971 [T/C] rs11119874 1 212357017 [A/C] rs11119880 1 212378485 [A/G] rs11119884 1 212400146 [T/C] rs4951583 1 212416078 [T/C] rs10863957 1 212418044 [T/C] rs351405 1 212431398 [A/C] rs7527863 1 212431431 [A/G] rs7531219 1 212434815 [A/G] rs351413 1 212457414 [A/G] rs1342151 1 212490304 [A/G] NM_006243,NM_001199756 PPP2R5A,PPP2R5A Silent,Silent 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 rs12736502 1 212516875 [T/C] NM_006243,NM_001199756 PPP2R5A,PPP2R5A Silent,Silent rs792442 1 212526288 [T/C] NM_006243,NM_001199756,NR_004389 PPP2R5A,PPP2R5A,SNORA16B EXON Silent,Silent,Silent variant.9839 1 212530626 [T/C] NM_006243,NM_001199756 PPP2R5A,PPP2R5A EXON Missense_P409L,Missense_P352L rs14123 1 212534448 [T/C] NM_006243,NM_001199756 PPP2R5A,PPP2R5A EXON Silent,Silent rs3767861 1 212537553 [A/G] indel.9841 1 212548596 [I/D] NM_018252,NM_001198862 TMEM206,TMEM206 EXON var_1_212553243 1 212553244 [D/I] NM_018252,NM_001198862 TMEM206,TMEM206 EXON 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 rs1086892 1 212562737 [T/G] NM_018252,NM_001198862 TMEM206,TMEM206 Silent,Silent rs6676208 1 212562975 [A/C] NM_018252,NM_001198862 TMEM206,TMEM206 Silent,Silent rs1539206 1 212580922 [A/G] NM_018252,NM_001198862 TMEM206,TMEM206 Silent,Silent exm147155 1 212587320 [T/C] NM_018252,NM_001198862 TMEM206,TMEM206 EXON Silent,Missense_N47D rs10863965 1 212601099 [T/C] rs10863966 1 212603619 [T/G] rs583058 1 212610755 [T/C] NR_026598,NM_013349 NENF,NENF Silent,Silent rs791720 1 212614788 [T/C] NR_026598,NM_013349 NENF,NENF Silent,Silent rs12567517 1 212617423 [T/G] NR_026598,NM_013349 NENF,NENF Silent,Silent 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 rs12746015 1 212636824 [T/C] rs734976 1 212640982 [T/G] exm2265079 1 212651499 [A/G] rs11119947 1 212656471 [T/C] rs7544479 1 212660681 [A/G] rs6540742 1 212670865 [A/G] rs626178 1 212677319 [T/C] rs653006 1 212678727 [T/G] rs878947 1 212683565 [A/G] rs562683 1 212683888 [T/C] rs10863978 1 212693423 [T/C] rs1021378 1 212700618 [A/G] rs650229 1 212711012 [T/C] rs1512847 1 212712720 [T/C] rs11802726 1 212713653 [A/C] rs599028 1 212714455 [T/C] rs616408 1 212716033 [A/G] rs11119967 1 212716579 [A/G] rs7522039 1 212727262 [T/C] rs2884515 1 212730334 [T/C] rs11119972 1 212733925 [T/C] rs2137424 1 212747117 [T/C] NM_001030287 ATF3 Silent rs3125289 1 212748147 [T/C] NM_001030287 ATF3 Silent rs6674072 1 212759493 [A/C] NM_001030287 ATF3 Silent rs11119982 1 212764844 [T/C] NM_001030287 ATF3 Silent rs6682064 1 212767840 [T/C] NM_001030287 ATF3 Silent rs1567710 1 212768428 [T/C] NM_001030287 ATF3 Silent rs4951625 1 212774757 [A/G] NM_001030287 ATF3 Silent rs4406706 1 212780471 [A/G] NM_001030287 ATF3 Silent exm147192 1 212788398 [T/C] NM_001030287,NM_001206484,NM_001674,NM_001040619,NM_001206488,NM_001206486 ATF3,ATF3,ATF3,ATF3,ATF3,ATF3 EXON Missense_S12L,Silent,Missense_S12L,Missense_S12L,Silent,Missense_S12L rs10475 1 212793613 [T/C] NM_001030287,NM_001206484,NM_001674,NM_001040619,NM_001206488,NM_001206486 ATF3,ATF3,ATF3,ATF3,ATF3,ATF3 EXON Silent,Silent,Silent,Silent,Silent,Silent exm147225 1 212798251 [T/C] NM_153606 FAM71A EXON Missense_T11M exm147226 1 212798260 [A/G] NM_153606 FAM71A EXON Missense_S14N variant.9851 1 212798325 [T/G] NM_153606 FAM71A EXON Nonsense_E36X exm1758800 1 212798336 [A/G] NM_153606 FAM71A EXON Missense_I39M exm147238 1 212798487 [T/C] NM_153606 FAM71A EXON Nonsense_R90X indel.9853 1 212798539 [I/D] NM_153606 FAM71A EXON 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 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 rs3122713 1 212799870 [A/G] NM_153606 FAM71A EXON Missense_N551D exm147329 1 212799870 [A/G] NM_153606 FAM71A EXON Missense_N551D exm147332 1 212799882 [T/A] NM_153606 FAM71A EXON Nonsense_K555X indel.9860 1 212799963 [I/D] NM_153606 FAM71A EXON rs3923950 1 212811875 [T/C] rs3123537 1 212811947 [A/C] rs2492788 1 212844187 [T/C] rs2492789 1 212845034 [A/G] rs17019556 1 212846165 [T/C] rs2501847 1 212846338 [T/C] rs2246053 1 212863052 [T/C] NM_018664 BATF3 Silent rs2221593 1 212873431 [T/C] rs7555918 1 212885805 [A/G] rs6681171 1 212892113 [T/G] indel.9862 1 212900502 [D/I] NM_015471,NM_001042549 NSL1,NSL1 EXON exm147355 1 212911779 [A/G] NM_015471,NM_001042549 NSL1,NSL1 EXON Missense_R273W,Silent newrs150149847 1 212911789 [T/C] NM_015471,NM_001042549 NSL1,NSL1 EXON Nonsense_W269X,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 rs15702 1 212911836 [T/C] NM_015471,NM_001042549 NSL1,NSL1 EXON Missense_M254V,Silent 1KG_1_212911853 1 212911853 [I/D] NM_015471,NM_001042549 NSL1,NSL1 EXON 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 rs1032965 1 212928157 [T/C] NM_015471,NM_001042549 NSL1,NSL1 Silent,Silent rs4951638 1 212931215 [T/C] NM_015471,NM_001042549 NSL1,NSL1 Silent,Silent rs11808846 1 212943581 [A/G] NM_015471,NM_001042549 NSL1,NSL1 Silent,Silent rs10863997 1 212947520 [A/G] NM_015471,NM_001042549 NSL1,NSL1 Silent,Silent 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_001146169,NM_001146170,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_001146169,NM_001146170,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_001146169,NM_001146170,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_L85I,Missense_L85I,Missense_L85I,Missense_L85I,Missense_L85I rs2940085 1 212973330 [T/C] NM_001146169,NM_001146170,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 Silent,Silent,Silent,Silent,Silent variant.9866 1 212976041 [A/G] NM_001146169,NM_001146170,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 Silent,Silent,Silent,Silent,Silent exm147425 1 212976085 [T/C] NM_001146169,NM_001146170,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_R101W,Silent,Missense_R101W,Missense_R101W,Missense_R101W variant.9867 1 212977716 [T/C] NM_001146169,NM_001146170,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Nonsense_Q126X,Nonsense_Q105X,Nonsense_Q126X,Nonsense_Q126X,Nonsense_Q126X exm147429 1 212977942 [A/G] NM_001146169,NM_001146170,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_V146M,Missense_V125M,Missense_V146M,Missense_V146M,Missense_V146M exm147430 1 212977951 [T/C] NM_001146169,NM_001146170,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_R149C,Missense_R128C,Missense_R149C,Missense_R149C,Missense_R149C exm147432 1 212977976 [A/G] NM_001146169,NM_001146170,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_N157S,Missense_N136S,Missense_N157S,Missense_N157S,Missense_N157S exm147436 1 212981105 [T/C] NM_001146169,NM_001146170,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Missense_F172S,Missense_F151S,Missense_F172S,Missense_F172S,Missense_F172S exm147438 1 212981188 [T/C] NM_001146169,NM_001146170,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Nonsense_Q200X,Nonsense_Q179X,Nonsense_Q200X,Nonsense_Q200X,Nonsense_Q200X rs7515115 1 212986554 [T/C] NM_001146169,NM_001146170,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 Silent,Silent,Silent,Silent,Silent variant.9870 1 212988371 [A/G] NM_001146169,NM_001146170,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Silent,Nonsense_W212X,Nonsense_W232X,Nonsense_W240X,Nonsense_W233X exm147445 1 212988383 [T/G] NM_001146169,NM_001146170,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Silent,Missense_I216S,Missense_I236S,Missense_I244S,Missense_I237S var_1_212988478 1 212988478 [T/C] NM_001146169,NM_001146170,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Silent,Nonsense_R248X,Nonsense_R268X,Nonsense_R276X,Nonsense_R269X exm147448 1 212988479 [A/G] NM_001146169,NM_001146170,NM_001042553,NM_001146171,NM_001042552 TATDN3,TATDN3,TATDN3,TATDN3,TATDN3 EXON Silent,Missense_R248Q,Missense_R268Q,Missense_R276Q,Missense_R269Q rs6694190 1 213005012 [A/G] NM_001024601 C1orf227 Silent rs6700410 1 213006397 [A/G] NM_001024601 C1orf227 Silent exm147453 1 213009337 [A/G] NM_001024601 C1orf227 EXON Missense_P52L exm147454 1 213009383 [A/G] NM_001024601 C1orf227 EXON Nonsense_R37X newrs80161538 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 indel.9874 1 213009477 [D/I] NM_001024601 C1orf227 EXON rs7524203 1 213011812 [C/G] NM_001024601 C1orf227 Silent rs10864007 1 213020221 [T/C] NM_001024601 C1orf227 Silent rs1047881 1 213031158 [T/C] NR_027285,NR_027286 FLVCR1-AS1,FLVCR1-AS1 EXON Silent,Silent exm147477 1 213032371 [C/G] NM_014053 FLVCR1 EXON Missense_G193R exm147480 1 213032389 [T/C] NM_014053 FLVCR1 EXON Missense_L199F rs963327 1 213037624 [A/C] NM_014053 FLVCR1 Silent rs2792561 1 213038375 [A/G] NM_014053 FLVCR1 Silent 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 rs1890932 1 213046236 [A/G] NM_014053 FLVCR1 Silent rs2644546 1 213052656 [T/G] NM_014053 FLVCR1 Silent var_1_213056785 1 213056785 [A/G] NM_014053 FLVCR1 Silent exm147499 1 213058700 [T/G] NM_014053 FLVCR1 EXON Missense_I386M variant.9879 1 213061934 [T/C] NM_014053 FLVCR1 EXON Nonsense_Q471X indel.9881 1 213068353 [D/I] NM_014053 FLVCR1 EXON exm147526 1 213068583 [A/G] NM_014053 FLVCR1 EXON Missense_Q540R exm147528 1 213068595 [T/C] NM_014053 FLVCR1 EXON Missense_T544M indel.9883 1 213068606 [I/D] NM_014053 FLVCR1 EXON exm147530 1 213068621 [T/G] NM_014053 FLVCR1 EXON Missense_S553A rs6682947 1 213069783 [A/G] NM_014053 FLVCR1 EXON Silent rs1284852 1 213073013 [T/C] exm2268827 1 213073013 [T/C] rs1284851 1 213073366 [A/G] rs4951651 1 213080601 [T/C] rs12042181 1 213088494 [T/C] rs12140722 1 213091573 [A/C] rs11120067 1 213094557 [A/G] rs970081 1 213101844 [A/G] rs3124665 1 213109096 [A/G] rs3104212 1 213111959 [T/C] exm1759265 1 213125026 [A/C] NM_001136475,NM_024749,NM_001136474 VASH2,VASH2,VASH2 EXON Silent,Missense_L48M,Silent rs2935214 1 213126541 [T/C] NM_001136475,NM_024749,NM_001136474 VASH2,VASH2,VASH2 Silent,Silent,Silent rs11586518 1 213144851 [A/G] NM_001136475,NM_024749,NM_001136474 VASH2,VASH2,VASH2 Silent,Silent,Silent exm147555 1 213145948 [T/C] NM_001136475,NM_024749,NM_001136474 VASH2,VASH2,VASH2 EXON Missense_I71T,Missense_I131T,Missense_I110T exm147563 1 213146166 [A/C] NM_001136475,NM_024749,NM_001136474 VASH2,VASH2,VASH2 EXON Missense_I144L,Missense_I204L,Missense_I183L exm147574 1 213146292 [A/C] NM_001136475,NM_024749,NM_001136474 VASH2,VASH2,VASH2 EXON Missense_M186L,Missense_M246L,Missense_M225L rs7511930 1 213146944 [A/G] NM_001136475,NM_024749,NM_001136474 VASH2,VASH2,VASH2 Silent,Silent,Silent exm147581 1 213147399 [T/C] NM_001136475,NM_024749,NM_001136474 VASH2,VASH2,VASH2 EXON Missense_R224W,Missense_R284W,Missense_R263W exm147582 1 213147400 [A/G] NM_001136475,NM_024749,NM_001136474 VASH2,VASH2,VASH2 EXON Missense_R224Q,Missense_R284Q,Missense_R263Q exm2273348 1 213161939 [A/G] NM_001136475,NM_024749,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 newrs151193487 1 213174127 [T/C] NM_144567 ANGEL2 Silent rs6692011 1 213174934 [T/G] NM_144567 ANGEL2 Silent 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 indel.9885 1 213186492 [I/D] NM_144567 ANGEL2 EXON indel.9886 1 213186567 [I/D] NM_144567 ANGEL2 EXON indel.9887 1 213186581 [D/I] NM_144567 ANGEL2 EXON exm2232450 1 213186591 [T/G] NM_144567 ANGEL2 EXON Missense_N77H variant.9889 1 213186633 [A/G] NM_144567 ANGEL2 EXON Nonsense_R63X indel.9890 1 213186658 [D/I] NM_144567 ANGEL2 EXON exm147660 1 213186688 [C/G] NM_144567 ANGEL2 EXON Missense_R44S rs7520067 1 213189294 [A/C] kgp6194227 1 213197406 [A/G] rs6689016 1 213241068 [T/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 Silent,Silent exm147673 1 213244366 [A/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_P42T,Silent rs6697921 1 213248758 [T/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 Silent,Silent exm147677 1 213251113 [T/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Nonsense_R73X,Nonsense_R61X rs6540777 1 213273769 [T/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 Silent,Silent exm147682 1 213277873 [C/G] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_A114P,Missense_A102P rs10465663 1 213301490 [T/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 Silent,Silent exm147694 1 213303007 [G/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_L204V,Missense_L192V exm1760074 1 213303165 [A/G] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Synonymous_E256E,Synonymous_E244E exm2275544 1 213303165 [A/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_E256D,Missense_E244D exm147703 1 213303178 [A/G] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON Missense_A261T,Missense_A249T rs6657234 1 213311427 [T/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 Silent,Silent 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 rs1391549 1 213371127 [T/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 Silent,Silent kgp6287121 1 213375416 [T/C] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 Silent,Silent 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 1KG_1_213415338 1 213415338 [I/D] NM_012424,NM_001136138 RPS6KC1,RPS6KC1 EXON 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 rs12026921 1 213464445 [A/C] rs10864040 1 213468908 [T/C] rs1655996 1 213491399 [T/C] rs1187767 1 213524560 [T/G] rs1656022 1 213527242 [A/G] exm2265080 1 213527242 [A/G] rs1656015 1 213536227 [T/C] rs1656014 1 213536488 [A/G] rs753369 1 213542560 [T/C] rs17020562 1 213542706 [T/C] rs320464 1 213589359 [T/G] rs748795 1 213594118 [A/G] rs93366 1 213594316 [T/C] rs12049265 1 213612779 [A/G] rs320451 1 213617738 [T/C] rs4655282 1 213626376 [T/C] rs12036568 1 213636801 [T/C] rs320480 1 213641943 [A/C] rs10494958 1 213657361 [T/C] rs10864046 1 213657633 [T/G] rs320471 1 213657863 [A/G] rs11120139 1 213661444 [A/G] rs320374 1 213666937 [T/G] rs320379 1 213677091 [T/C] rs6666874 1 213679087 [T/C] rs893665 1 213692263 [T/C] rs320424 1 213703223 [T/C] rs10864051 1 213707153 [T/C] rs7555498 1 213709724 [T/C] rs11120157 1 213714381 [A/G] rs17020954 1 213719643 [T/C] rs320395 1 213720321 [A/G] exm2264949 1 213743905 [A/G] rs6540792 1 213754770 [T/G] rs12062324 1 213760845 [A/G] rs11120168 1 213772821 [A/G] rs4561011 1 213776679 [A/G] exm-rs17021090 1 213781198 [A/G] rs17021094 1 213785732 [A/G] rs4147209 1 213793240 [A/G] rs11805334 1 213796830 [A/G] rs4655454 1 213805502 [A/G] rs12144639 1 213817311 [A/G] rs11120179 1 213825023 [A/G] rs12406454 1 213831905 [T/C] rs17021216 1 213849457 [T/G] rs12035846 1 213854151 [A/G] rs12759209 1 213866694 [T/C] rs11120195 1 213868299 [A/G] rs1588374 1 213873500 [T/C] rs11120203 1 213888861 [A/C] rs1509869 1 213890404 [A/G] rs1771901 1 213905747 [T/C] rs4655466 1 213913001 [A/G] rs2793276 1 213915710 [T/G] rs701903 1 213923233 [A/G] rs5011573 1 213925444 [T/C] rs10864069 1 213947269 [A/C] rs4233314 1 213947964 [T/C] rs2282386 1 213967677 [T/C] rs12403122 1 213977989 [T/C] rs11120217 1 213978359 [T/G] rs17021481 1 213985718 [A/G] rs6693625 1 214002260 [T/C] rs6540803 1 214009019 [T/C] exm2268972 1 214043216 [T/G] rs6679279 1 214048734 [T/C] rs701899 1 214051497 [T/C] rs853757 1 214051639 [T/C] rs10864079 1 214077644 [A/G] rs1891062 1 214083466 [T/C] rs1073569 1 214095868 [T/C] rs7550337 1 214099716 [T/C] NR_046189 LINC00538 EXON Silent rs11120231 1 214110152 [A/C] rs340849 1 214118090 [A/C] rs6540809 1 214118343 [A/G] rs6700065 1 214135660 [T/G] rs12567631 1 214140993 [T/C] rs7529073 1 214147889 [T/C] rs1431979 1 214152475 [T/C] rs340879 1 214156514 [T/C] exm-rs340874 1 214159256 [T/C] rs340839 1 214161820 [A/G] NM_001270616 PROX1 EXON Silent 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 rs3754138 1 214179972 [T/G] NM_001270616,NM_002763 PROX1,PROX1 Silent,Silent kgp177016 1 214213175 [A/C] NM_001270616,NM_002763 PROX1,PROX1 EXON Silent,Silent kgp3651025 1 214224428 [T/C] rs1660383 1 214288897 [A/G] rs6697593 1 214292127 [A/G] rs10864086 1 214318748 [A/C] rs1795059 1 214324877 [A/G] rs1223761 1 214332987 [A/C] rs11589520 1 214350621 [A/G] rs17022092 1 214351618 [A/G] rs12026597 1 214363164 [T/C] rs10494969 1 214381305 [A/G] rs9787247 1 214392240 [T/C] rs12134227 1 214393540 [A/G] rs1223777 1 214395861 [A/G] rs7539006 1 214398058 [A/C] exm2250721 1 214402313 [A/G] rs4655320 1 214403709 [A/G] rs1795065 1 214405194 [A/G] rs6682783 1 214418139 [T/G] rs4655323 1 214420058 [T/C] rs4265402 1 214430221 [A/C] rs9308433 1 214457009 [T/C] NM_020197 SMYD2 Silent rs6660726 1 214461354 [A/G] NM_020197 SMYD2 Silent rs11120288 1 214462988 [A/G] NM_020197 SMYD2 Silent rs4655330 1 214466068 [A/G] NM_020197 SMYD2 Silent rs6701764 1 214469508 [T/G] NM_020197 SMYD2 Silent rs10779613 1 214476561 [T/C] NM_020197 SMYD2 Silent exm147862 1 214488172 [T/C] NM_020197 SMYD2 EXON Missense_P102L variant.9898 1 214491482 [A/C] NM_020197 SMYD2 EXON Missense_H137N exm147875 1 214492286 [A/G] NM_020197 SMYD2 EXON Missense_G165E exm147876 1 214492289 [T/G] NM_020197 SMYD2 EXON Missense_F166C rs12737638 1 214494006 [T/C] NM_020197 SMYD2 Silent rs6687629 1 214495139 [A/G] NM_020197 SMYD2 Silent indel.9899 1 214497998 [I/D] NM_020197 SMYD2 EXON 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 rs1048791 1 214511519 [T/C] rs1472441 1 214527252 [A/G] NM_005401 PTPN14 EXON Silent exm2250722 1 214531313 [A/G] NM_005401 PTPN14 EXON Synonymous_F1172F exm147923 1 214537946 [A/G] NM_005401 PTPN14 EXON Missense_P1115L rs1135352 1 214542819 [T/C] NM_005401 PTPN14 EXON Synonymous_E1084E 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 rs3738425 1 214543098 [A/G] NM_005401 PTPN14 Silent rs7532953 1 214547938 [T/G] NM_005401 PTPN14 Silent 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 rs6676318 1 214554966 [T/C] NM_005401 PTPN14 Silent 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 exm148037 1 214557815 [A/G] NM_005401 PTPN14 EXON Synonymous_S461S exm2250723 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 rs3013446 1 214558228 [A/G] NM_005401 PTPN14 Silent rs3013445 1 214558658 [A/G] NM_005401 PTPN14 Silent exm148060 1 214560201 [A/G] NM_005401 PTPN14 EXON Missense_T351M exm148073 1 214568242 [T/C] NM_005401 PTPN14 EXON Synonymous_T282T newrs11580603 1 214571251 [A/C] NM_005401 PTPN14 Silent exm148080 1 214575066 [A/G] NM_005401 PTPN14 EXON Missense_R211C exm148087 1 214576241 [T/C] NM_005401 PTPN14 EXON Missense_E189G rs10779614 1 214589914 [A/G] NM_005401 PTPN14 Silent rs4465172 1 214608879 [T/C] NM_005401 PTPN14 Silent rs4253890 1 214609822 [A/C] NM_005401 PTPN14 Silent rs6698662 1 214611723 [T/G] NM_005401 PTPN14 Silent exm148104 1 214625224 [T/C] NM_005401 PTPN14 EXON Missense_A90T exm148108 1 214625316 [A/G] NM_005401 PTPN14 EXON Missense_T59M rs12757404 1 214629616 [A/G] NM_005401 PTPN14 Silent rs10864104 1 214644771 [T/C] NM_005401 PTPN14 Silent rs4655351 1 214645307 [T/C] NM_005401 PTPN14 Silent rs10494979 1 214658211 [A/G] NM_005401 PTPN14 Silent rs10864105 1 214662822 [T/C] NM_005401 PTPN14 Silent rs11120342 1 214664556 [T/C] NM_005401 PTPN14 Silent exm2268828 1 214668462 [T/C] NM_005401 PTPN14 Silent rs6680964 1 214677026 [A/G] NM_005401 PTPN14 Silent rs6693492 1 214685978 [A/G] NM_005401 PTPN14 Silent rs6698434 1 214704670 [A/C] NM_005401 PTPN14 Silent rs7541263 1 214716479 [T/G] NM_005401 PTPN14 Silent rs11120350 1 214727383 [A/G] rs7516017 1 214755795 [A/G] rs12563432 1 214756410 [A/G] rs2807650 1 214762003 [T/C] rs2807653 1 214763986 [T/C] rs2807663 1 214786635 [A/C] NM_016343 CENPF Silent variant.9909 1 214787260 [A/G] NM_016343 CENPF Silent variant.9910 1 214788232 [T/G] NM_016343 CENPF EXON Nonsense_E74X rs2666834 1 214789375 [T/C] NM_016343 CENPF Silent exm148129 1 214791951 [T/C] NM_016343 CENPF EXON Missense_A132V variant.9911 1 214792522 [T/C] NM_016343 CENPF EXON Nonsense_R178X rs17023277 1 214793813 [A/G] NM_016343 CENPF Silent 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 variant.9913 1 214811320 [T/C] NM_016343 CENPF EXON Nonsense_Q520X 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 1KG_1_214814173 1 214814173 [I/D] NM_016343 CENPF EXON exm148219 1 214814276 [A/C] NM_016343 CENPF EXON Missense_E865D exm148236 1 214814733 [T/G] NM_016343 CENPF EXON Missense_Y1018D 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 indel.9916 1 214815018 [D/I] NM_016343 CENPF EXON 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 var_1_214815384 1 214815384 [T/C] NM_016343 CENPF EXON Nonsense_Q1235X 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 indel.9922 1 214818626 [D/I] NM_016343 CENPF EXON 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 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 rs3748697 1 214820099 [A/G] NM_016343 CENPF EXON Missense_N2396D 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 newrs151128805 1 214820465 [T/G] NM_016343 CENPF EXON Nonsense_E2518X 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 indel.9929 1 214825057 [I/D] NM_016343 CENPF EXON 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 rs438034 1 214830617 [A/G] NM_016343 CENPF EXON Missense_R2943G indel.9933 1 214830752 [D/I] NM_016343 CENPF EXON rs417774 1 214833425 [A/G] NM_016343 CENPF Silent indel.9938 1 214836947 [I/D] NM_016343 CENPF EXON exm148506 1 214836950 [A/G] NM_016343 CENPF EXON Missense_R3053Q exm148512 1 214837110 [C/G] NM_016343 CENPF EXON Missense_N3106K rs1511047 1 214863137 [T/C] rs2597661 1 214863736 [A/G] rs335554 1 214888381 [T/C] rs335555 1 214889859 [T/C] rs11804720 1 214910624 [T/C] rs6659655 1 214920883 [A/G] rs6699978 1 214921207 [A/G] rs4655371 1 214939196 [T/C] exm-rs12734277 1 214962771 [T/C] rs992228 1 214963300 [T/C] rs12407130 1 214991610 [A/C] rs1272551 1 214999519 [A/G] rs1856050 1 215005621 [A/G] rs6699503 1 215030041 [A/C] rs1415181 1 215031151 [T/C] rs1268910 1 215058414 [T/C] rs11807086 1 215064388 [A/G] rs10864137 1 215068065 [T/C] rs7524233 1 215080890 [T/C] rs12025511 1 215093394 [A/G] rs554343 1 215094201 [A/G] rs1963938 1 215110998 [A/G] rs497870 1 215112145 [A/G] rs476557 1 215140251 [A/C] rs2077982 1 215150317 [T/C] exm2263849 1 215154120 [A/C] rs10864142 1 215165561 [A/C] rs6659170 1 215166503 [A/G] rs12031300 1 215171545 [A/G] rs7538655 1 215178824 [A/G] indel.9940 1 215179299 [D/I] NM_001017424 KCNK2 rs12131478 1 215186972 [A/G] NM_001017424 KCNK2 Silent rs2841612 1 215187250 [A/C] NM_001017424 KCNK2 Silent rs2123331 1 215220345 [A/G] NM_001017424 KCNK2 Silent rs2841615 1 215222115 [T/G] NM_001017424 KCNK2 Silent rs12131054 1 215228234 [T/C] NM_001017424 KCNK2 Silent rs1157492 1 215238904 [T/C] NM_001017424 KCNK2 Silent rs2363561 1 215255307 [T/C] NM_001017424 KCNK2 Silent exm148525 1 215259714 [T/C] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 EXON Missense_A13V,Missense_A17V,Missense_A32V rs12133857 1 215264486 [T/G] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent rs10864152 1 215269410 [T/C] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent 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 rs10465699 1 215301524 [T/G] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent rs11120504 1 215307777 [T/G] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent rs2885812 1 215315037 [T/C] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent rs4509553 1 215317651 [T/C] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent rs10779645 1 215322806 [T/C] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent variant.9941 1 215342702 [T/C] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 EXON Synonymous_I208I,Synonymous_I212I,Synonymous_I227I variant.9942 1 215345355 [T/C] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 EXON Nonsense_Q214X,Nonsense_Q218X,Nonsense_Q233X rs10779651 1 215345938 [T/C] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent exm2250729 1 215368303 [T/C] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 EXON Synonymous_S273S,Synonymous_S277S,Synonymous_S292S variant.9944 1 215368347 [A/G] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 EXON Nonsense_W288X,Nonsense_W292X,Nonsense_W307X rs12753507 1 215380352 [A/G] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent rs12080135 1 215396543 [T/G] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 Silent,Silent,Silent variant.9945 1 215408222 [T/G] NM_001017424,NM_001017425,NM_014217 KCNK2,KCNK2,KCNK2 EXON Nonsense_E335X,Nonsense_E339X,Nonsense_E354X rs7549184 1 215412906 [A/G] rs946488 1 215415487 [T/C] rs9662592 1 215443789 [A/G] rs4442346 1 215457085 [A/C] rs10494997 1 215460047 [A/G] rs2211126 1 215460631 [T/C] kgp6047689 1 215463944 [T/C] rs1588095 1 215513781 [T/C] rs6686570 1 215518364 [T/C] rs17024744 1 215551666 [T/C] rs2089427 1 215570581 [A/G] rs973197 1 215592251 [A/G] rs756174 1 215592497 [T/C] rs2174771 1 215607338 [A/G] rs1557174 1 215694431 [T/G] rs2797387 1 215712638 [T/C] rs11120592 1 215721124 [T/C] exm148582 1 215752436 [T/C] NM_016121 KCTD3 EXON Missense_T164I rs11803705 1 215753355 [T/G] NM_016121 KCTD3 Silent exm148594 1 215759981 [A/G] NM_016121 KCTD3 EXON Missense_S257N variant.9950 1 215781400 [T/C] NM_016121 KCTD3 EXON Nonsense_R451X 1KG_1_215781437 1 215781437 [I/D] NM_016121 KCTD3 EXON variant.9951 1 215792413 [T/G] NM_016121 KCTD3 Silent exm2250736 1 215792511 [T/C] NM_016121 KCTD3 EXON Synonymous_T588T exm148618 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 rs2797386 1 215805813 [A/G] NM_206933 USH2A Silent indel.9954 1 215807970 [I/D] NM_206933 USH2A EXON 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 newrs146733615 1 215814065 [A/G] NM_206933 USH2A EXON Nonsense_R4935X rs2677111 1 215816688 [A/C] NM_206933 USH2A Silent 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 rs2066405 1 215845984 [A/G] NM_206933 USH2A Silent variant.9960 1 215847440 [A/G] NM_206933 USH2A Silent 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 newrs111033385 1 215848123 [T/G] NM_206933 USH2A EXON Nonsense_S4377X indel.9962 1 215848138 [I/D] NM_206933 USH2A EXON exm148792 1 215848154 [T/C] NM_206933 USH2A EXON Missense_V4367I variant.9963 1 215848253 [A/G] NM_206933 USH2A EXON Nonsense_Q4334X exm148800 1 215848370 [T/C] NM_206933 USH2A EXON Missense_I4295V indel.9964 1 215848403 [I/D] NM_206933 USH2A EXON 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 var_1_215848539 1 215848539 [A/C] NM_206933 USH2A EXON Nonsense_Y4238X 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 newrs151148854 1 215848960 [T/C] NM_206933 USH2A Silent rs10864182 1 215849589 [T/C] NM_206933 USH2A Silent rs2797236 1 215851464 [A/C] NM_206933 USH2A Silent rs11578710 1 215853116 [T/C] NM_206933 USH2A Silent exm148846 1 215853544 [A/G] NM_206933 USH2A EXON Missense_R4081W exm148849 1 215853640 [T/C] NM_206933 USH2A EXON Missense_A4049T rs2797239 1 215857876 [T/C] NM_206933 USH2A Silent rs2820691 1 215861411 [T/G] NM_206933 USH2A Silent exm2268829 1 215862696 [T/C] NM_206933 USH2A Silent rs4628479 1 215868952 [A/G] NM_206933 USH2A Silent rs7546433 1 215880177 [A/G] NM_206933 USH2A Silent rs6692669 1 215885296 [A/G] NM_206933 USH2A Silent rs4465171 1 215886975 [T/C] NM_206933 USH2A Silent rs17620843 1 215891174 [T/C] NM_206933 USH2A Silent rs4655426 1 215893063 [T/C] NM_206933 USH2A Silent rs2820710 1 215897099 [T/G] NM_206933 USH2A Silent rs2820716 1 215899617 [T/C] NM_206933 USH2A Silent exm148861 1 215901392 [T/C] NM_206933 USH2A EXON Missense_V4016M newrs142381713 1 215901511 [A/G] NM_206933 USH2A EXON Missense_T3976M 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 rs4233312 1 215912320 [T/C] NM_206933 USH2A Silent 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 rs2364865 1 215919848 [A/G] NM_206933 USH2A Silent rs12141500 1 215921956 [A/G] NM_206933 USH2A Silent rs2488418 1 215929795 [A/G] NM_206933 USH2A Silent variant.9976 1 215931936 [T/C] NM_206933 USH2A Silent var_1_215932030 1 215932030 [A/G] NM_206933 USH2A EXON Nonsense_Q3766X variant.9979 1 215932085 [T/G] NM_206933 USH2A EXON Nonsense_Y3747X 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 variant.9980 1 215933178 [T/C] NM_206933 USH2A EXON Nonsense_W3685X exm148919 1 215933187 [T/C] NM_206933 USH2A Silent rs12146110 1 215936900 [A/G] 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 newrs111033265 1 215955400 [T/C] NM_206933 USH2A EXON Missense_C3575Y variant.9984 1 215955412 [A/G] NM_206933 USH2A EXON Missense_T3571M exm148940 1 215955515 [A/G] NM_206933 USH2A EXON Missense_L3537F variant.9985 1 215955540 [T/C] NM_206933 USH2A Silent rs6665799 1 215955937 [T/G] NM_206933 USH2A Silent exm148944 1 215956101 [T/C] NM_206933 USH2A EXON Missense_R3522G var_1_215956104 1 215956104 [A/G] NM_206933 USH2A EXON Missense_W3521R 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 variant.9987 1 215956248 [A/C] NM_206933 USH2A EXON Nonsense_E3473X rs7518466 1 215956304 [A/G] NM_206933 USH2A Silent 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 rs6540911 1 215974257 [T/C] NM_206933 USH2A Silent rs4405115 1 215979386 [T/C] NM_206933 USH2A Silent exm148995 1 215987194 [T/G] NM_206933 USH2A EXON Missense_E3208A exm148997 1 215987222 [T/C] NM_206933 USH2A EXON Missense_N3199D rs6540912 1 215989973 [T/G] NM_206933 USH2A Silent variant.9990 1 215990338 [T/C] NM_206933 USH2A Silent variant.9991 1 215990440 [A/G] NM_206933 USH2A EXON Nonsense_Q3157X exm149015 1 215990479 [T/C] NM_206933 USH2A EXON Missense_D3144N exm2232467 1 215990508 [T/C] NM_206933 USH2A EXON Missense_R3134Q rs7536020 1 216003557 [A/G] NM_206933 USH2A Silent 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 newrs146401999 1 216019240 [T/C] NM_206933 USH2A EXON Nonsense_W2994X rs2365629 1 216027887 [A/G] NM_206933 USH2A Silent rs970464 1 216035149 [A/G] NM_206933 USH2A Silent rs1028796 1 216036382 [A/G] NM_206933 USH2A Silent exm149051 1 216040405 [T/C] NM_206933 USH2A EXON Missense_N2930S rs9804120 1 216042210 [T/C] NM_206933 USH2A Silent rs11120682 1 216047519 [A/G] NM_206933 USH2A Silent rs11120686 1 216050785 [T/C] NM_206933 USH2A Silent exm149058 1 216051125 [A/G] NM_206933 USH2A EXON Missense_L2886F variant.9994 1 216051154 [T/C] NM_206933 USH2A EXON Nonsense_W2876X 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 variant.9995 1 216051224 [T/C] NM_206933 USH2A Silent variant.9996 1 216052105 [T/C] NM_206933 USH2A Silent 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 rs7544464 1 216054086 [T/C] NM_206933 USH2A Silent rs7516705 1 216055286 [T/C] NM_206933 USH2A Silent 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 rs17025561 1 216064898 [A/G] NM_206933 USH2A Silent rs1981227 1 216066437 [A/C] NM_206933 USH2A Silent rs6540916 1 216069531 [T/C] NM_206933 USH2A Silent indel.9998 1 216073415 [I/D] NM_206933 USH2A exm149100 1 216073470 [T/C] NM_206933 USH2A EXON Missense_N2514S rs12046356 1 216076167 [T/C] NM_206933 USH2A Silent rs7519354 1 216096735 [A/C] NM_206933 USH2A Silent rs927744 1 216096763 [T/C] NM_206933 USH2A Silent exm149133 1 216108098 [A/G] NM_206933 USH2A EXON Missense_M2387T exm149134 1 216108128 [T/C] NM_206933 USH2A EXON Missense_N2377S rs492474 1 216112208 [T/G] NM_206933 USH2A Silent rs531780 1 216117840 [T/C] NM_206933 USH2A Silent rs12410350 1 216132878 [A/G] NM_206933 USH2A Silent rs6540923 1 216134295 [A/G] NM_206933 USH2A Silent rs3845529 1 216136620 [T/G] NM_206933 USH2A Silent 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 rs479826 1 216143270 [A/G] NM_206933 USH2A Silent 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 rs2813727 1 216154283 [T/C] NM_206933 USH2A Silent 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 rs10864219 1 216172380 [A/G] NM_206933 USH2A EXON Missense_I2169T variant.10003 1 216173745 [T/C] NM_206933 USH2A EXON Missense_Q2162R exm149185 1 216173866 [A/C] NM_206933 USH2A EXON Missense_A2122S rs4350180 1 216178658 [A/G] NM_206933 USH2A Silent rs7519838 1 216188600 [A/G] NM_206933 USH2A Silent rs10779662 1 216188698 [T/G] NM_206933 USH2A Silent rs2317936 1 216194948 [A/C] NM_206933 USH2A Silent rs12121718 1 216205110 [T/C] NM_206933 USH2A Silent rs11120726 1 216215741 [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 var_1_216219874 1 216219874 [T/C] NM_206933 USH2A EXON Nonsense_W2075X variant.10005 1 216221876 [T/C] NM_206933 USH2A EXON Missense_A2055T 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 rs1436776 1 216235074 [T/C] NM_206933 USH2A Silent rs6419476 1 216236311 [T/C] NM_206933 USH2A Silent 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 indel.10006 1 216243615 [I/D] NM_206933 USH2A EXON exm149220 1 216243634 [C/G] NM_206933 USH2A EXON Missense_A1953G variant.10007 1 216246437 [A/G] NM_206933 USH2A Silent 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 exm149248 1 216251594 [C/G] NM_206933 USH2A EXON Synonymous_V1803V exm2250742 1 216251594 [C/G] NM_206933 USH2A EXON Synonymous_V1803V variant.10008 1 216251674 [A/G] NM_206933 USH2A EXON Missense_R1777W exm149265 1 216258168 [T/C] NM_206933 USH2A EXON Missense_K1680R exm149267 1 216258213 [A/G] NM_206933 USH2A EXON Missense_I1665T newrs143521854 1 216258221 [T/C] NM_206933 USH2A Silent newrs150896588 1 216262354 [T/C] NM_206933 USH2A Silent exm149274 1 216262444 [T/C] NM_206933 USH2A EXON Missense_G1599D rs1544299 1 216264388 [A/C] NM_206933 USH2A Silent rs17026081 1 216269176 [T/C] NM_206933 USH2A Silent exm149275 1 216270469 [A/G] NM_206933 USH2A EXON Missense_L1572F exm149281 1 216270537 [T/C] NM_206933 USH2A EXON Missense_R1549Q rs12093003 1 216271112 [T/C] NM_206933 USH2A Silent rs12123638 1 216277327 [T/C] NM_206933 USH2A Silent rs11120735 1 216281673 [A/C] NM_206933 USH2A Silent rs10864233 1 216295188 [T/C] NM_206933 USH2A Silent rs301736 1 216305479 [T/C] NM_206933 USH2A Silent rs448588 1 216313208 [A/G] NM_206933 USH2A Silent rs301759 1 216337447 [A/G] NM_206933 USH2A Silent rs439940 1 216347556 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Silent,Silent variant.10012 1 216348677 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_T1515M,Missense_T1515M 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 variant.10013 1 216348825 [T/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent 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 newrs111033524 1 216371836 [A/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_G1301V,Missense_G1301V 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 rs1324330 1 216390694 [T/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent 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 rs696720 1 216417771 [T/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent 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 1KG_1_216420289 1 216420289 [D/I] NM_206933,NM_007123 USH2A,USH2A EXON 1KG_1_216420436 1 216420437 [D/I] NM_206933,NM_007123 USH2A,USH2A EXON 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 newrs137954284 1 216424331 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_C694Y,Missense_C694Y newrs111033248 1 216424360 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Synonymous_Q684Q,Synonymous_Q684Q variant.10028 1 216424441 [T/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent rs386654 1 216431962 [A/G] NM_206933,NM_007123 USH2A,USH2A Silent,Silent rs12134474 1 216446653 [A/G] NM_206933,NM_007123 USH2A,USH2A Silent,Silent rs1159143 1 216454483 [T/G] NM_206933,NM_007123 USH2A,USH2A Silent,Silent rs1512581 1 216455107 [T/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent 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 rs1398382 1 216475249 [T/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent 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 rs1805050 1 216496947 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Synonymous_T473T,Synonymous_T473T exm149454 1 216497654 [A/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_T395M,Missense_T395M variant.10032 1 216498754 [T/G] NM_206933,NM_007123 USH2A,USH2A EXON Missense_N346H,Missense_N346H variant.10034 1 216498882 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_R303H,Missense_R303H rs1588657 1 216537936 [A/G] NM_206933,NM_007123 USH2A,USH2A Silent,Silent exm149470 1 216538391 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_V230M,Missense_V230M rs2669053 1 216552091 [T/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent rs4531347 1 216571742 [A/C] NM_206933,NM_007123 USH2A,USH2A Silent,Silent 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 rs10779261 1 216595306 [T/C] NM_206933,NM_007123 USH2A,USH2A EXON Missense_A125T,Missense_A125T rs12723493 1 216605071 [A/C] rs11117581 1 216613761 [T/C] rs4240918 1 216630596 [A/G] rs10495024 1 216632948 [T/C] rs12142867 1 216638249 [A/G] rs4256876 1 216650304 [T/C] rs6691953 1 216655122 [A/G] exm2259998 1 216655251 [A/C] rs7554439 1 216655699 [T/C] rs4348785 1 216657848 [A/G] rs12031665 1 216665455 [A/G] rs6666194 1 216672805 [A/G] exm149515 1 216680496 [T/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG EXON Missense_V388I,Missense_V365I,Missense_V400I,Missense_V365I,Missense_V365I,Missense_V203I,Missense_V365I,Missense_V365I,Missense_V365I,Missense_V365I,Missense_V326I,Missense_V365I,Missense_V365I,Missense_V365I,Missense_V137I,Missense_V365I rs9803970 1 216688839 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs6604627 1 216691305 [T/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs10779265 1 216692002 [T/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs6683007 1 216702964 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs6696225 1 216705965 [T/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs6604631 1 216707519 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs2377098 1 216715514 [T/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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-rs12757165 1 216716537 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs1846224 1 216724215 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs10442688 1 216726333 [T/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs7520795 1 216732718 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG EXON Missense_Y250C,Missense_Y227C,Missense_Y262C,Missense_Y227C,Missense_Y227C,Missense_Y65C,Missense_Y227C,Missense_Y227C,Missense_Y227C,Missense_Y227C,Missense_Y188C,Missense_Y227C,Missense_Y227C,Missense_Y227C,Silent,Missense_Y227C exm149534 1 216741330 [T/A] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG EXON Missense_Y234N,Missense_Y211N,Missense_L239M,Missense_Y211N,Missense_Y211N,Missense_Y49N,Missense_Y211N,Missense_Y211N,Missense_Y211N,Missense_Y211N,Missense_Y172N,Missense_Y211N,Missense_Y211N,Missense_Y211N,Silent,Missense_Y211N rs11117625 1 216743264 [T/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs6701062 1 216755753 [T/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs2201838 1 216770716 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs1833039 1 216771649 [T/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs7544758 1 216777687 [T/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs1826977 1 216783528 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs10863259 1 216787169 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs11572727 1 216787802 [T/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs1857407 1 216791605 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs1414529 1 216798806 [T/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs1414530 1 216798830 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs4846617 1 216822615 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 exm149546 1 216824430 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG EXON Synonymous_G158G,Synonymous_G135G,Synonymous_G163G,Synonymous_G135G,Synonymous_G135G,Silent,Synonymous_G135G,Synonymous_G135G,Synonymous_G135G,Synonymous_G135G,Silent,Synonymous_G135G,Synonymous_G135G,Synonymous_G135G,Silent,Synonymous_G135G rs946468 1 216836576 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs946465 1 216840371 [T/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs2133123 1 216844817 [T/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs12121367 1 216848771 [T/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 exm1761776 1 216850733 [T/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG EXON Missense_V53I,Missense_V30I,Missense_V58I,Missense_V30I,Missense_V30I,Silent,Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I,Missense_V30I,Silent,Missense_V30I rs12754372 1 216853179 [T/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs11580756 1 216854148 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 exm2250745 1 216856115 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs4085154 1 216858013 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs2211118 1 216864218 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs11117663 1 216872201 [T/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs2820883 1 216872461 [A/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs2066108 1 216877492 [A/C] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs11572672 1 216880662 [A/G] NM_001438,NM_001243515,NM_001243518,NM_001243519,NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 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 rs2820878 1 216900811 [T/G] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2813703 1 216913261 [A/G] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1339352 1 216915514 [T/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2820875 1 216920286 [T/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11572654 1 216922557 [T/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6693633 1 216938541 [A/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs946470 1 216945100 [T/G] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11572621 1 216950896 [A/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6702277 1 216956685 [T/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10218498 1 216965834 [A/G] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7355008 1 216966601 [T/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2789726 1 216973196 [A/G] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2813663 1 216974886 [T/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243514,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12760372 1 216983034 [A/G] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2576234 1 216987005 [T/G] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2032028 1 216994412 [T/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1436897 1 217005202 [T/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1561186 1 217007348 [T/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7537081 1 217008849 [A/G] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7548403 1 217009130 [A/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2576258 1 217016670 [A/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1156007 1 217020295 [A/G] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs12086903 1 217020992 [T/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent exm-rs1436900 1 217058479 [T/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1370150 1 217059640 [A/G] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1025653 1 217081526 [T/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1436879 1 217082385 [T/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4147268 1 217084292 [T/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2818747 1 217088584 [A/G] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10779284 1 217092655 [T/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6682369 1 217103658 [T/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7551571 1 217108951 [A/G] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7417600 1 217112871 [T/C] NM_001243513,NM_001243506,NM_001243509,NM_001243510,NM_001243511,NM_001243512,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11117734 1 217122449 [T/G] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10492958 1 217124015 [T/C] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2576225 1 217131973 [T/C] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs17044788 1 217162443 [A/G] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs3000609 1 217162879 [A/G] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs5017053 1 217167698 [A/G] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs10863285 1 217174168 [T/G] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2789567 1 217177525 [T/C] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1339222 1 217180260 [A/G] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2789573 1 217183535 [T/C] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs946438 1 217184643 [A/G] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1890554 1 217190815 [T/G] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11117750 1 217192021 [T/C] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11572427 1 217199613 [A/G] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7527281 1 217203091 [A/C] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11117754 1 217206705 [T/G] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs11807917 1 217217013 [A/G] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7513573 1 217222233 [A/C] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs7532636 1 217228116 [A/G] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6680670 1 217230015 [T/C] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6684903 1 217235542 [A/G] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2225967 1 217237052 [T/C] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4537652 1 217238186 [T/C] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4846809 1 217240584 [T/G] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4846400 1 217245278 [T/C] NM_001243506,NM_001243509,NM_001243507,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1553347 1 217252549 [A/G] NM_001243506,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent rs7539648 1 217255780 [A/G] NM_001243506,NM_206594,NM_206595,NM_001243505,NM_001134285 ESRRG,ESRRG,ESRRG,ESRRG,ESRRG Silent,Silent,Silent,Silent,Silent rs946436 1 217265865 [T/C] NM_001134285 ESRRG Silent rs1502357 1 217266496 [T/C] NM_001134285 ESRRG Silent rs7514298 1 217272170 [T/G] NM_001134285 ESRRG Silent rs6604654 1 217279717 [T/C] NM_001134285 ESRRG Silent rs12040162 1 217293917 [A/G] NM_001134285 ESRRG Silent rs10495041 1 217298122 [A/C] NM_001134285 ESRRG Silent rs830321 1 217302383 [A/G] NM_001134285 ESRRG Silent rs830322 1 217302743 [T/C] NM_001134285 ESRRG Silent exm2268830 1 217308047 [T/C] NM_001134285 ESRRG Silent rs11117781 1 217334839 [A/G] rs1502352 1 217337735 [A/G] rs1354220 1 217342298 [T/C] rs11117784 1 217351406 [T/C] rs1892259 1 217352068 [T/C] rs11117794 1 217359519 [A/G] rs12143637 1 217362297 [T/C] rs6669865 1 217365587 [T/G] rs1910147 1 217375824 [T/C] rs1000796 1 217402330 [A/G] rs11117815 1 217403176 [T/G] rs4332417 1 217406858 [T/C] rs4846824 1 217414922 [T/G] rs4388759 1 217421644 [A/C] rs3923328 1 217424810 [T/C] rs10495049 1 217429135 [T/C] exm-rs10495049 1 217429135 [T/C] rs4146799 1 217435636 [A/G] rs7541546 1 217438561 [T/C] rs11589117 1 217445254 [A/G] rs7518401 1 217450293 [A/C] rs7535028 1 217456447 [T/G] rs2030018 1 217464290 [T/G] rs12758898 1 217471995 [T/C] rs2646811 1 217476282 [T/C] rs7520619 1 217477458 [A/G] rs11117853 1 217487940 [T/C] rs2088457 1 217488788 [A/G] rs2060 1 217494099 [A/G] rs2815217 1 217500820 [T/G] rs2646852 1 217507258 [T/C] exm2260001 1 217511930 [A/G] rs964347 1 217511930 [A/G] exm-rs1497828 1 217527024 [G/C] rs2815231 1 217538165 [T/G] rs2646828 1 217542361 [T/C] rs2810777 1 217559619 [T/G] rs11801512 1 217570487 [A/G] rs6660072 1 217575240 [T/C] rs2815251 1 217583807 [A/G] rs561609 1 217589894 [A/G] rs629840 1 217592010 [T/C] rs12127692 1 217595347 [T/C] rs1048126 1 217603847 [T/C] NM_018040 GPATCH2 EXON Silent rs166449 1 217604124 [T/C] NM_018040 GPATCH2 EXON Silent 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 rs265125 1 217620430 [A/G] NM_018040 GPATCH2 Silent exm149584 1 217622647 [A/G] NM_018040 GPATCH2 EXON Missense_T437M rs13375527 1 217658496 [A/C] NM_018040 GPATCH2 Silent exm149588 1 217665070 [T/C] NM_018040 GPATCH2 EXON Missense_R410Q variant.10038 1 217665071 [A/G] NM_018040 GPATCH2 EXON Nonsense_R410X newrs148242273 1 217671697 [A/C] NM_018040 GPATCH2 Silent rs4846415 1 217680035 [T/C] NM_018040 GPATCH2 Silent rs1930301 1 217704670 [A/G] NM_018040 GPATCH2 Silent rs4846419 1 217715564 [A/G] NM_018040 GPATCH2 Silent rs10495060 1 217727217 [T/C] NM_018040 GPATCH2 Silent rs17046602 1 217734609 [T/C] NM_018040 GPATCH2 Silent rs12097653 1 217753698 [T/C] NM_018040 GPATCH2 Silent rs4846244 1 217756963 [A/G] NM_018040 GPATCH2 Silent rs11583496 1 217762620 [T/C] NM_018040 GPATCH2 Silent rs11117891 1 217767109 [T/C] NM_018040 GPATCH2 Silent rs11117895 1 217772539 [A/C] NM_018040 GPATCH2 Silent rs11117896 1 217780472 [A/G] NM_018040 GPATCH2 Silent rs12749938 1 217783810 [T/C] NM_018040 GPATCH2 Silent exm149598 1 217784318 [T/C] NM_018040 GPATCH2 EXON Missense_T311A exm2273746 1 217784321 [T/G] NM_018040 GPATCH2 EXON Missense_P310T variant.10040 1 217787486 [A/G] NM_018040 GPATCH2 EXON Nonsense_Q278X 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 rs12124165 1 217796299 [A/G] NM_018040 GPATCH2 Silent 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 variant.10043 1 217804793 [A/G] NM_138796 SPATA17 Silent exm149641 1 217822294 [G/C] NM_138796 SPATA17 EXON Missense_Q47E rs10863333 1 217830178 [A/G] NM_138796 SPATA17 Silent rs10863335 1 217842887 [A/G] NM_138796 SPATA17 Silent exm149658 1 217856610 [A/G] NM_138796 SPATA17 EXON Missense_R101Q exm149660 1 217856622 [A/G] NM_138796 SPATA17 EXON Missense_Y105C rs17725494 1 217889346 [A/G] NM_138796 SPATA17 Silent exm149668 1 217915416 [A/G] NM_138796 SPATA17 EXON Missense_M165I rs10863340 1 217922972 [T/C] NM_138796 SPATA17 Silent rs11117926 1 217931977 [A/G] NM_138796 SPATA17 Silent rs6604561 1 217947738 [A/G] NM_138796 SPATA17 EXON Synonymous_Q194Q exm149683 1 217947826 [T/C] NM_138796 SPATA17 EXON Missense_R224C exm149686 1 217947856 [T/C] NM_138796 SPATA17 EXON Missense_P234S rs17726462 1 217951156 [A/G] NM_138796 SPATA17 Silent rs4846440 1 217954378 [A/G] NM_138796 SPATA17 Silent 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 rs11117944 1 218000520 [T/C] NM_138796 SPATA17 Silent rs12040010 1 218006850 [A/C] NM_138796 SPATA17 Silent rs4846443 1 218008002 [A/G] NM_138796 SPATA17 Silent rs6674883 1 218008788 [A/G] NM_138796 SPATA17 Silent rs10495081 1 218010172 [T/C] NM_138796 SPATA17 Silent rs1567449 1 218018956 [T/C] NM_138796 SPATA17 Silent rs10863350 1 218030584 [T/G] NM_138796 SPATA17 Silent variant.10050 1 218036114 [A/G] NM_138796 SPATA17 Silent rs12405333 1 218044052 [A/G] rs4846248 1 218047636 [A/G] rs17046947 1 218048319 [T/C] rs11117962 1 218050263 [T/C] rs872171 1 218058946 [A/G] rs7538903 1 218068893 [A/C] NR_048550 LINC00210 Silent rs12744967 1 218084087 [A/G] NR_048550 LINC00210 Silent rs871379 1 218084991 [T/C] NR_048550 LINC00210 Silent rs6604568 1 218094151 [A/G] rs1397178 1 218099577 [T/C] rs966209 1 218108088 [T/C] rs966208 1 218108164 [A/C] rs12404476 1 218111556 [A/G] rs4846249 1 218127794 [T/C] rs12031059 1 218129861 [T/G] rs1832544 1 218133537 [A/G] rs4428953 1 218139006 [A/G] rs4475815 1 218146855 [A/G] rs4846453 1 218148677 [A/G] rs7520319 1 218149826 [A/G] rs1889607 1 218155651 [A/G] rs12401951 1 218162375 [T/C] rs7537966 1 218162453 [A/G] rs4282881 1 218188851 [T/C] rs7512034 1 218198668 [A/G] rs12142065 1 218201025 [T/C] rs6604578 1 218201594 [T/C] rs11118016 1 218204695 [A/G] rs6661310 1 218208472 [A/G] rs17693785 1 218214924 [A/G] rs992010 1 218224279 [A/G] rs6697579 1 218238773 [T/C] rs17047306 1 218243697 [T/C] rs10863373 1 218251692 [T/G] rs7539193 1 218259988 [T/C] rs877850 1 218261632 [A/G] rs12083333 1 218271784 [A/G] rs6699736 1 218272851 [A/G] rs4639829 1 218278650 [A/G] rs7547685 1 218282929 [A/C] rs1873326 1 218284056 [T/C] rs7527372 1 218287335 [A/C] rs580733 1 218292715 [A/C] rs12125587 1 218299276 [T/C] rs1029170 1 218300030 [T/C] rs575962 1 218304346 [T/G] rs17047450 1 218331878 [T/C] rs683968 1 218333601 [T/C] exm2260003 1 218333601 [T/C] rs511223 1 218333741 [T/C] rs621070 1 218337199 [A/G] rs1338451 1 218352449 [A/G] rs6694166 1 218353211 [T/C] rs7528076 1 218361784 [A/C] exm2250754 1 218370200 [T/C] rs1556836 1 218391681 [A/G] rs1416156 1 218397580 [A/G] rs11118065 1 218417520 [A/G] rs12087406 1 218418911 [T/C] rs10863384 1 218428101 [A/C] rs1338445 1 218439928 [T/C] rs3753592 1 218458058 [T/C] rs2788193 1 218458227 [T/C] exm149712 1 218458672 [T/C] NM_016052 RRP15 EXON Missense_A5V exm149715 1 218458753 [T/C] NM_016052 RRP15 EXON Missense_A32V rs11118073 1 218475441 [T/G] NM_016052 RRP15 Silent exm149720 1 218475683 [A/G] NM_016052 RRP15 EXON Missense_I63V exm149725 1 218475847 [T/G] NM_016052 RRP15 EXON Missense_K117N var_1_218475902 1 218475902 [T/G] NM_016052 RRP15 Silent 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 variant.10054 1 218504377 [T/G] NM_016052 RRP15 EXON Nonsense_E265X 1KG_1_218504399 1 218504399 [D/I] NM_016052 RRP15 EXON var_1_218504399 1 218504400 [D/I] NM_016052 RRP15 EXON exm149755 1 218520242 [A/G] NM_003238,NM_001135599 TGFB2,TGFB2 EXON Missense_V67M,Missense_V67M exm149758 1 218520315 [A/G] NM_003238,NM_001135599 TGFB2,TGFB2 EXON Missense_R91H,Missense_R91H rs1418555 1 218523650 [A/G] NM_003238,NM_001135599 TGFB2,TGFB2 Silent,Silent rs1417488 1 218523730 [T/C] NM_003238,NM_001135599 TGFB2,TGFB2 Silent,Silent rs17047707 1 218528087 [A/G] NM_003238,NM_001135599 TGFB2,TGFB2 Silent,Silent rs6662137 1 218542059 [T/G] NM_003238,NM_001135599 TGFB2,TGFB2 Silent,Silent rs2027566 1 218558327 [A/C] NM_003238,NM_001135599 TGFB2,TGFB2 Silent,Silent rs1539399 1 218565324 [A/G] NM_003238,NM_001135599 TGFB2,TGFB2 Silent,Silent exm149764 1 218578520 [T/C] NM_003238,NM_001135599 TGFB2,TGFB2 EXON Missense_P119L,Missense_P147L rs2799083 1 218581617 [T/C] NM_003238,NM_001135599 TGFB2,TGFB2 Silent,Silent rs2000220 1 218587636 [A/G] NM_003238,NM_001135599 TGFB2,TGFB2 Silent,Silent rs6657275 1 218596461 [A/G] NM_003238,NM_001135599 TGFB2,TGFB2 Silent,Silent rs1342586 1 218597859 [T/C] NM_003238,NM_001135599 TGFB2,TGFB2 Silent,Silent exm149773 1 218607532 [G/C] NM_003238,NM_001135599 TGFB2,TGFB2 EXON Missense_V207L,Missense_V235L exm149783 1 218609380 [A/G] NM_003238,NM_001135599 TGFB2,TGFB2 EXON Missense_S275G,Missense_S303G rs1473526 1 218620747 [T/C] rs11118109 1 218632925 [T/G] rs7547759 1 218639589 [T/G] rs725033 1 218643940 [T/C] rs6604616 1 218646954 [T/C] rs3009935 1 218663189 [A/G] rs11118115 1 218683702 [A/G] rs3009947 1 218689155 [T/C] rs6665024 1 218690577 [A/G] rs2047163 1 218708603 [A/C] rs604045 1 218714208 [T/C] rs12038116 1 218719400 [A/G] rs11118129 1 218741263 [T/C] rs1481347 1 218766058 [A/G] rs17048282 1 218777698 [A/G] rs2965012 1 218786549 [A/C] rs3009943 1 218786572 [T/C] rs729283 1 218794670 [A/G] rs17048343 1 218811824 [A/G] rs11485142 1 218833214 [A/C] rs11583395 1 218841163 [A/G] rs11487802 1 218850711 [A/G] rs922715 1 218858100 [T/C] rs993925 1 218860068 [T/C] exm-rs993925 1 218860068 [T/C] rs1481354 1 218866367 [A/G] rs17048445 1 218891564 [T/C] rs1031961 1 218903928 [A/C] rs4372320 1 218906453 [T/C] rs1481356 1 218908668 [A/G] rs1351472 1 218912366 [T/C] rs1552122 1 218912421 [T/C] rs2378003 1 218920738 [A/G] rs7542694 1 218931976 [T/C] rs6692647 1 218932794 [A/C] rs6665999 1 218932807 [A/G] rs6541199 1 218938961 [T/C] rs6698925 1 218940225 [A/C] exm2264952 1 218950403 [A/G] rs6655980 1 218960310 [A/G] rs7415744 1 218982922 [T/C] rs17514738 1 218988754 [T/C] rs11118161 1 218999505 [A/G] rs6541234 1 219001663 [T/C] exm-rs2647116 1 219009835 [A/G] rs617385 1 219036330 [A/G] rs637991 1 219040605 [T/C] rs679831 1 219051378 [A/G] rs650681 1 219053292 [T/C] rs636764 1 219054054 [T/C] rs3897852 1 219062526 [A/G] rs1338458 1 219072415 [T/C] rs878394 1 219073958 [A/G] rs11118174 1 219085469 [A/G] rs7540766 1 219088165 [T/C] rs10495112 1 219088779 [T/C] rs7525547 1 219095423 [T/C] rs626518 1 219101848 [T/C] rs11118178 1 219104226 [T/C] exm2268975 1 219110621 [T/C] rs11118180 1 219117863 [A/C] rs662150 1 219138400 [T/C] rs601175 1 219141960 [T/C] rs629222 1 219143598 [T/G] rs6703753 1 219163360 [T/C] rs7540160 1 219176608 [A/G] rs17048992 1 219189306 [T/C] rs1256590 1 219191704 [A/G] rs1700853 1 219220558 [T/C] rs6690339 1 219221780 [T/C] rs17041707 1 219222948 [T/C] rs871107 1 219223317 [T/C] rs1256603 1 219240970 [A/G] rs12141207 1 219273881 [A/G] NR_038845 LOC643723 Silent rs7545152 1 219298539 [A/G] NR_038845 LOC643723 Silent rs9308387 1 219337294 [T/C] NR_038845 LOC643723 Silent exm1762188 1 219347282 [T/C] NM_138794 LYPLAL1 EXON Missense_A17V indel.10058 1 219347298 [I/D] NM_138794 LYPLAL1 EXON exm149813 1 219347314 [T/C] NM_138794 LYPLAL1 EXON Missense_H28Y rs7536671 1 219350309 [T/C] NM_138794 LYPLAL1 Silent exm1762202 1 219366463 [A/G] NM_138794 LYPLAL1 EXON Nonsense_W77X exm149821 1 219366546 [T/C] NM_138794 LYPLAL1 EXON Missense_I105T rs12402039 1 219374030 [A/G] NM_138794 LYPLAL1 Silent rs6692892 1 219383192 [T/C] NM_138794 LYPLAL1 Silent exm149827 1 219383905 [A/G] NM_138794 LYPLAL1 EXON Missense_I131M exm149829 1 219383940 [A/G] NM_138794 LYPLAL1 EXON Missense_G143E newrs140122550 1 219384873 [T/C] NM_138794 LYPLAL1 EXON Nonsense_Q173X exm149838 1 219384945 [G/C] NM_138794 LYPLAL1 EXON Missense_L197V rs7544093 1 219398458 [A/G] rs11118250 1 219446253 [A/G] rs10863444 1 219464144 [T/C] exm2264953 1 219465410 [A/G] rs12030447 1 219466796 [A/G] rs10158029 1 219482935 [T/C] rs4846547 1 219484416 [A/G] rs11118272 1 219490301 [T/C] rs11118275 1 219497096 [T/C] rs13376087 1 219520895 [T/C] rs7553882 1 219539066 [T/C] rs6670103 1 219547050 [T/C] rs6671991 1 219557811 [T/G] rs1340101 1 219565545 [T/G] rs10863457 1 219570103 [T/G] rs11118293 1 219577777 [T/C] rs2820461 1 219578414 [A/C] rs2791558 1 219583791 [T/C] rs12032159 1 219586415 [A/G] rs2820455 1 219596070 [T/C] rs2605087 1 219602093 [A/G] rs17005517 1 219604453 [A/C] rs2085261 1 219604950 [T/C] rs6669442 1 219622596 [A/G] rs2820437 1 219636951 [T/G] rs2605096 1 219641900 [A/G] rs2605097 1 219642109 [A/C] exm-rs2605100 1 219644224 [A/G] rs11804949 1 219648119 [A/G] rs12022722 1 219651133 [T/C] exm-rs2791552 1 219652033 [A/C] rs1563355 1 219653101 [T/C] rs11118316 1 219657163 [A/G] rs2820426 1 219660535 [A/G] rs1417066 1 219673828 [A/G] rs2820466 1 219675016 [A/G] rs2791553 1 219676042 [A/G] rs12031785 1 219686440 [T/C] exm-rs2785990 1 219687432 [T/C] rs11802602 1 219690937 [A/G] rs6696581 1 219697819 [T/C] rs6704014 1 219700334 [T/C] exm-rs2785980 1 219700519 [T/C] rs10746385 1 219706428 [T/C] rs2820449 1 219714999 [A/G] rs3001032 1 219727779 [T/C] rs11118343 1 219739907 [T/G] rs1415289 1 219742768 [A/G] exm-rs11118346 1 219743719 [T/C] rs2785991 1 219748779 [A/G] exm-rs4846567 1 219750717 [T/G] rs17006168 1 219759378 [A/C] rs2494196 1 219762581 [A/C] rs11118356 1 219777110 [T/C] rs10779363 1 219786890 [T/C] rs11118371 1 219812901 [T/C] rs17006225 1 219822453 [T/C] rs2378282 1 219825766 [A/G] rs945717 1 219838104 [A/G] rs11118383 1 219844192 [T/C] rs1415998 1 219848628 [A/C] rs1538027 1 219859158 [T/G] rs12096993 1 219865236 [T/C] rs17006346 1 219867194 [T/G] rs12059053 1 219867786 [T/C] rs10779377 1 219881894 [T/C] rs4532841 1 219890503 [T/C] rs10157552 1 219911743 [A/C] rs2797548 1 219923989 [T/G] rs12035718 1 219926135 [A/G] rs17006538 1 219926717 [T/C] rs4846586 1 219931448 [A/G] rs17006599 1 219936765 [A/G] rs1776059 1 219937300 [A/C] rs1766406 1 219937351 [T/C] rs12022944 1 219945686 [A/C] rs10779385 1 219967811 [A/G] rs4846603 1 219968010 [T/G] rs13375416 1 219968306 [T/C] rs12083182 1 219983092 [A/C] rs11118423 1 219984995 [T/C] rs6541105 1 220006085 [A/G] exm2260007 1 220052720 [A/G] NR_002753 RNU5F-1 Silent rs10399645 1 220053857 [T/C] NR_002753 RNU5F-1 Silent rs7514869 1 220056396 [A/G] NR_002753 RNU5F-1 Silent rs6694002 1 220076195 [T/C] NR_002753 RNU5F-1 Silent exm2268833 1 220077269 [T/C] NR_002753 RNU5F-1 Silent rs11118454 1 220077320 [A/G] NR_002753 RNU5F-1 Silent rs884127 1 220082150 [A/G] NR_002753 RNU5F-1 Silent rs2275707 1 220088047 [A/C] NR_002753,NM_018713,NR_046437 RNU5F-1,SLC30A10,SLC30A10 EXON Silent,Silent,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 variant.10062 1 220091597 [T/C] NR_002753,NM_018713,NR_046437 RNU5F-1,SLC30A10,SLC30A10 EXON Silent,Missense_M320V,Silent rs4846607 1 220093188 [A/G] NR_002753,NM_018713,NR_046437 RNU5F-1,SLC30A10,SLC30A10 Silent,Silent,Silent rs6700061 1 220098329 [T/C] NR_002753,NM_018713,NR_046437 RNU5F-1,SLC30A10,SLC30A10 Silent,Silent,Silent exm2273747 1 220100412 [T/C] NR_002753,NM_018713,NR_046437 RNU5F-1,SLC30A10,SLC30A10 EXON Silent,Missense_M226V,Silent rs1694585 1 220102792 [T/C] NR_002753 RNU5F-1 Silent rs950455 1 220108918 [A/G] NR_002753 RNU5F-1 Silent rs11118465 1 220119384 [A/C] NR_002753 RNU5F-1 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 indel.10064 1 220154749 [D/I] NR_002753,NM_004446 RNU5F-1,EPRS EXON rs1061160 1 220154768 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Synonymous_Q1135Q 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 newrs148272159 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 variant.10066 1 220160653 [A/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Nonsense_G957X exm149971 1 220160715 [A/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_L936R rs2647459 1 220161360 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent variant.10067 1 220161927 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent variant.10068 1 220161931 [A/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent 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 variant.10069 1 220162020 [A/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Nonsense_L896X 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 rs10495143 1 220167371 [A/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent 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 rs2647447 1 220175777 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent 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 variant.10071 1 220184377 [A/G] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Nonsense_R506X variant.10072 1 220191790 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent exm150032 1 220191804 [A/G] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_A494V variant.10073 1 220192332 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent exm150038 1 220193423 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_Y419C newrs78046577 1 220193564 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent variant.10076 1 220197605 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent indel.10077 1 220197615 [I/D] NR_002753,NM_004446 RNU5F-1,EPRS EXON 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 variant.10078 1 220205846 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Synonymous_Q137Q newrs181521242 1 220208251 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent exm150072 1 220213564 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS EXON Silent,Missense_V32I rs12022181 1 220214212 [T/C] NR_002753,NM_004446 RNU5F-1,EPRS Silent,Silent rs10863529 1 220228658 [A/G] NR_002753 RNU5F-1 Silent exm150085 1 220232191 [A/G] NR_002753,NM_006085 RNU5F-1,BPNT1 EXON Silent,Missense_P308S var_1_220232283 1 220232283 [T/C] NR_002753,NM_006085 RNU5F-1,BPNT1 EXON Silent,Missense_K277R variant.10081 1 220233028 [T/C] NR_002753,NM_006085 RNU5F-1,BPNT1 EXON Silent,Missense_G260S 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 rs2577152 1 220240997 [T/C] NR_002753,NM_006085 RNU5F-1,BPNT1 Silent,Silent rs2289190 1 220273564 [T/G] NR_002753,NM_018060 RNU5F-1,IARS2 Silent,Silent 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 variant.10087 1 220275835 [A/C] NR_002753,NM_018060 RNU5F-1,IARS2 Silent,Silent rs2789789 1 220276333 [A/G] NR_002753,NM_018060 RNU5F-1,IARS2 Silent,Silent 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 variant.10088 1 220300169 [A/G] NM_018060 IARS2 EXON Nonsense_W607X 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 variant.10089 1 220315176 [T/C] NM_018060 IARS2 EXON Nonsense_R816X 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 indel.10091 1 220320970 [I/D] NM_018060 IARS2 EXON rs11095 1 220321023 [A/G] NM_018060 IARS2 EXON Silent exm150261 1 220324619 [T/C] NM_012414 RAB3GAP2 EXON Missense_E1386K indel.10092 1 220324671 [I/D] NM_012414 RAB3GAP2 EXON 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 variant.10093 1 220332733 [A/G] NM_012414 RAB3GAP2 EXON Nonsense_R1086X exm1762630 1 220338086 [T/C] NM_012414 RAB3GAP2 EXON Missense_H1048R exm150307 1 220338117 [T/C] NM_012414 RAB3GAP2 EXON Missense_I1038V rs2808027 1 220339479 [A/G] NM_012414 RAB3GAP2 Silent variant.10094 1 220340839 [A/G] NM_012414 RAB3GAP2 Silent exm150321 1 220344453 [T/C] NM_012414 RAB3GAP2 EXON Missense_T863A variant.10096 1 220345974 [T/G] NM_012414 RAB3GAP2 Silent rs11805285 1 220351723 [T/C] NM_012414 RAB3GAP2 Silent 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 variant.10097 1 220363401 [T/C] NM_012414 RAB3GAP2 Silent 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 variant.10098 1 220387197 [T/C] NM_012414 RAB3GAP2 Silent variant.10099 1 220387198 [A/G] NM_012414 RAB3GAP2 EXON Missense_P102S rs12040095 1 220393414 [T/C] NM_012414 RAB3GAP2 Silent rs6541127 1 220401009 [T/C] NM_012414 RAB3GAP2 Silent exm150412 1 220406148 [T/G] NM_012414 RAB3GAP2 EXON Missense_Q58P rs10779401 1 220435999 [T/C] NM_012414 RAB3GAP2 Silent exm1762691 1 220445634 [T/C] NM_012414 RAB3GAP2 EXON Missense_A16T exm2250764 1 220445641 [A/G] NM_012414 RAB3GAP2 EXON Synonymous_D13D exm150414 1 220445641 [A/G] NM_012414 RAB3GAP2 EXON Synonymous_D13D rs1511695 1 220448330 [A/G] rs4272630 1 220486349 [A/G] rs6541128 1 220489544 [T/C] rs6541137 1 220496232 [A/G] rs1983248 1 220497813 [T/C] rs12058934 1 220499314 [T/G] rs11118528 1 220506871 [T/C] rs17641611 1 220507580 [A/G] rs7544009 1 220527820 [T/C] rs12754802 1 220539533 [T/G] rs12069968 1 220547625 [A/C] rs11118542 1 220559400 [A/G] rs12732389 1 220563560 [T/C] exm2264954 1 220565331 [A/G] rs7531705 1 220565331 [A/G] rs1338763 1 220599845 [T/C] rs1338766 1 220606276 [A/G] rs12408337 1 220622474 [T/C] rs6694188 1 220624026 [A/G] rs7555789 1 220625992 [T/C] rs1109534 1 220642287 [T/G] rs12563333 1 220658234 [T/C] rs3842967 1 220658889 [T/C] rs13376101 1 220667154 [T/C] rs12753927 1 220683696 [T/C] rs10863557 1 220684386 [A/G] rs6694126 1 220693001 [T/C] rs1361092 1 220717462 [T/G] NM_018650 MARK1 Silent rs2589586 1 220725132 [A/G] NM_018650 MARK1 Silent exm150421 1 220752795 [A/G] NM_018650 MARK1 EXON Missense_T51A rs10495150 1 220801974 [A/C] NM_018650 MARK1 Silent 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 variant.10101 1 220826695 [A/G] NM_018650 MARK1 Silent exm2260009 1 220828454 [T/C] NM_018650 MARK1 Silent rs2994525 1 220849330 [A/G] rs12410279 1 220851520 [A/G] rs364360 1 220864976 [A/C] NM_024709 C1orf115 Silent rs9431295 1 220867903 [T/C] NM_024709 C1orf115 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 rs426020 1 220874101 [A/G] rs365798 1 220879252 [T/C] rs796486 1 220885612 [A/C] rs337170 1 220900396 [A/G] rs337182 1 220906624 [A/C] exm-rs337161 1 220914920 [T/G] rs337161 1 220914920 [T/G] rs189231 1 220918953 [T/C] rs393585 1 220925376 [T/G] NM_017898 MARC2 Silent 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 rs453079 1 220929401 [A/G] NM_017898 MARC2 Silent rs2275575 1 220935081 [A/G] NM_017898 MARC2 EXON Synonymous_A176A rs10779415 1 220935808 [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 rs337147 1 220940411 [T/C] NM_017898 MARC2 Silent rs17008595 1 220940834 [A/G] NM_017898 MARC2 Silent rs7519414 1 220945483 [A/G] NM_017898 MARC2 Silent exm150556 1 220953523 [A/C] NM_017898 MARC2 EXON Missense_T276P exm150557 1 220953524 [T/C] NM_017898 MARC2 EXON Missense_T276M indel.10102 1 220955123 [D/I] NM_017898 MARC2 EXON exm150565 1 220955235 [A/C] NM_017898 MARC2 EXON Missense_M334L rs868494 1 220959517 [T/C] rs6682431 1 220964537 [A/G] NM_022746 MARC1 Silent 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 rs2642439 1 220970499 [A/G] NM_022746 MARC1 Silent exm150608 1 220971339 [A/T] NM_022746 MARC1 EXON Missense_C246S exm150609 1 220971342 [A/G] NM_022746 MARC1 EXON Missense_D247N rs2642441 1 220973426 [T/C] NM_022746 MARC1 Silent rs2642421 1 220977615 [T/C] NM_022746 MARC1 Silent variant.10105 1 220978402 [A/G] NM_022746 MARC1 EXON Nonsense_W254X exm150616 1 220978444 [A/G] NM_022746 MARC1 EXON Missense_M268I exm150617 1 220978456 [A/G] NM_022746 MARC1 Silent variant.10107 1 220978457 [T/C] 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 rs1874113 1 220979994 [A/C] NM_022746 MARC1 Silent rs11118607 1 220984364 [T/C] NM_022746 MARC1 Silent exm150631 1 220986660 [A/G] NM_022746 MARC1 EXON Missense_R305Q rs2807840 1 220987155 [A/G] NM_022746 MARC1 EXON Silent rs4143772 1 220988346 [A/G] rs7530493 1 220989700 [T/G] rs2131887 1 221007855 [T/C] rs12073837 1 221010205 [T/C] exm-rs12073837 1 221010205 [T/C] rs2807848 1 221010513 [T/G] rs1603046 1 221022916 [T/C] rs2807854 1 221029841 [T/C] rs11118622 1 221042175 [T/C] rs2807880 1 221043003 [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 rs2247213 1 221055463 [A/G] NM_021958 HLX Silent exm150672 1 221055533 [A/C] NM_021958 HLX EXON Missense_T267N exm150679 1 221057646 [T/C] NM_021958 HLX EXON Missense_P356L rs3738182 1 221057662 [A/G] NM_021958 HLX EXON Synonymous_E361E exm150681 1 221057667 [T/A] NM_021958 HLX EXON Missense_D363V exm150687 1 221057770 [T/A] NM_021958 HLX EXON Missense_S397R rs2784252 1 221062684 [T/C] rs2807863 1 221067103 [T/G] rs6541166 1 221069370 [A/C] rs1537806 1 221084222 [A/G] rs11587049 1 221099886 [T/C] rs1335915 1 221103744 [A/G] rs12567705 1 221107246 [T/C] rs7542375 1 221111780 [T/G] exm2264955 1 221147712 [A/G] rs2484696 1 221171310 [A/G] rs10489960 1 221188122 [T/G] rs4142350 1 221194793 [A/G] rs7542237 1 221209184 [T/G] rs11118642 1 221244372 [T/C] rs10218738 1 221280094 [T/C] rs10218741 1 221280235 [A/G] rs4595370 1 221298122 [A/G] rs4484929 1 221313677 [A/G] rs6667902 1 221325413 [T/C] rs7515181 1 221328346 [T/C] rs6541181 1 221365849 [T/C] rs4846689 1 221377435 [A/C] rs10863595 1 221393875 [T/C] exm-rs2378454 1 221396325 [A/G] rs17009664 1 221397750 [T/G] rs6687985 1 221399536 [T/G] rs9431087 1 221413423 [T/G] rs11802047 1 221430342 [A/G] rs3923935 1 221442575 [A/G] rs4846704 1 221448322 [T/C] rs3924520 1 221456218 [T/C] rs6660101 1 221484024 [A/G] rs10863602 1 221486559 [A/C] rs2998397 1 221493742 [T/C] rs17521587 1 221495334 [A/G] rs2996005 1 221496601 [T/C] newrs11579760 1 221507172 [A/G] NR_024236 C1orf140 EXON Silent rs4313406 1 221511715 [T/C] exm2268834 1 221511715 [T/C] rs4517352 1 221523673 [A/G] rs12044275 1 221526452 [A/G] rs12410731 1 221533350 [T/C] exm-rs12733856 1 221551539 [A/C] rs2378483 1 221575390 [A/G] rs3131533 1 221579628 [A/G] rs1459223 1 221582028 [T/C] rs3131537 1 221583559 [A/G] rs10159368 1 221593165 [T/C] rs9726422 1 221604980 [A/G] rs1031675 1 221605304 [A/G] exm-rs12032381 1 221617076 [A/C] rs11118717 1 221624817 [A/G] rs1459229 1 221632498 [T/C] rs6699367 1 221651040 [A/G] rs1903138 1 221652503 [T/G] rs11118731 1 221657634 [A/G] rs10863628 1 221682007 [A/C] rs2005574 1 221684604 [A/C] rs9725646 1 221685360 [T/C] rs1858566 1 221690507 [A/G] rs9308395 1 221690855 [T/C] rs9730262 1 221694627 [A/G] rs9725124 1 221734237 [T/C] rs12564947 1 221743047 [A/G] rs12133543 1 221752376 [A/G] rs9659823 1 221753645 [A/G] rs11118771 1 221773994 [A/G] rs3860324 1 221809552 [T/C] rs6697462 1 221811055 [A/G] rs2176690 1 221817308 [A/G] rs7520263 1 221821302 [A/G] rs6701049 1 221837700 [A/G] rs13376168 1 221848970 [T/C] rs1815577 1 221864710 [T/C] rs6604665 1 221869434 [A/C] rs908857 1 221874684 [A/G] indel.10111 1 221875788 [I/D] NM_144728,NM_144729,NM_007207 DUSP10,DUSP10,DUSP10 EXON exm150731 1 221879569 [T/C] NM_144728,NM_144729,NM_007207 DUSP10,DUSP10,DUSP10 EXON Missense_V9I,Missense_V9I,Missense_V351I exm150738 1 221879742 [A/C] NM_144728,NM_144729,NM_007207 DUSP10,DUSP10,DUSP10 EXON Silent,Silent,Missense_C293F rs12749729 1 221883496 [A/G] NM_144728,NM_144729,NM_007207 DUSP10,DUSP10,DUSP10 Silent,Silent,Silent rs982292 1 221891352 [T/G] NM_144728,NM_144729,NM_007207 DUSP10,DUSP10,DUSP10 Silent,Silent,Silent rs17010629 1 221895393 [T/C] NM_144728,NM_144729,NM_007207 DUSP10,DUSP10,DUSP10 Silent,Silent,Silent exm2260011 1 221898783 [T/C] NM_144728,NM_144729,NM_007207 DUSP10,DUSP10,DUSP10 Silent,Silent,Silent exm150759 1 221912675 [A/G] NM_144729,NM_007207 DUSP10,DUSP10 EXON Silent,Missense_S138P exm150776 1 221912939 [T/C] NM_144729,NM_007207 DUSP10,DUSP10 EXON Silent,Missense_V50I exm150778 1 221912959 [T/G] NM_144729,NM_007207 DUSP10,DUSP10 EXON Silent,Missense_P43H exm150779 1 221912999 [T/G] NM_144729,NM_007207 DUSP10,DUSP10 EXON Silent,Missense_S30R variant.10113 1 221913032 [A/G] NM_144729,NM_007207 DUSP10,DUSP10 EXON Silent,Nonsense_R19X rs4589119 1 221915967 [A/G] rs10863652 1 221923042 [A/G] rs6690778 1 221929177 [T/C] rs7546398 1 221935450 [T/C] rs11118852 1 221940271 [A/G] rs4433402 1 221946172 [A/G] rs3010852 1 221946207 [T/C] rs11118858 1 221952958 [T/G] rs11118860 1 221953558 [T/C] rs4240927 1 221958189 [T/C] rs10495177 1 221958998 [T/C] rs12089785 1 221968224 [T/C] rs6604673 1 221991112 [A/G] rs12042853 1 221991428 [A/G] rs3003892 1 221994043 [T/G] rs4418610 1 222008026 [T/C] rs6673674 1 222019354 [T/C] rs10495181 1 222021079 [T/G] rs12144971 1 222032485 [T/C] rs4240931 1 222039055 [T/C] rs6604676 1 222042179 [A/G] rs11118882 1 222053234 [T/C] rs11811613 1 222055403 [A/G] rs11118883 1 222061022 [A/G] rs7547751 1 222065709 [T/C] rs11579212 1 222072819 [A/C] rs6604689 1 222078040 [T/C] rs4457591 1 222078600 [T/C] rs7520693 1 222084135 [A/C] rs10863667 1 222087406 [A/G] rs3828088 1 222087833 [T/G] exm2268835 1 222093006 [T/C] rs7554115 1 222102582 [T/C] rs2800853 1 222111006 [T/C] rs12122784 1 222120767 [A/C] rs2800846 1 222122590 [T/C] rs12036536 1 222152402 [A/G] rs6687758 1 222164948 [A/G] exm-rs6687758 1 222164948 [A/G] rs11118924 1 222168110 [T/C] rs7546586 1 222168464 [T/C] rs2800860 1 222183226 [T/C] rs2584315 1 222206887 [A/G] rs17011257 1 222215805 [T/C] rs7538392 1 222222851 [T/G] rs2066136 1 222230715 [T/G] rs7548749 1 222241688 [A/G] rs12138480 1 222252021 [A/G] rs10863685 1 222255923 [A/G] rs7517086 1 222271325 [T/C] exm-rs873549 1 222271767 [T/C] rs753961 1 222273249 [T/C] rs17011388 1 222289048 [A/G] rs17444339 1 222289598 [A/G] rs7513668 1 222295588 [A/G] rs2378522 1 222301317 [T/G] rs11118953 1 222302968 [A/G] rs7518250 1 222317641 [A/G] rs12750381 1 222362840 [A/G] rs158735 1 222366608 [T/G] rs1028861 1 222426667 [A/G] rs158731 1 222443578 [A/G] rs35869320 1 222456692 [T/G] rs11487844 1 222466162 [T/G] rs35082873 1 222497526 [A/G] rs4511115 1 222513180 [T/C] rs4364889 1 222519003 [A/G] rs34559460 1 222538556 [T/C] rs4459116 1 222547295 [T/C] rs17507835 1 222553902 [T/G] rs1108870 1 222578271 [A/G] rs17461806 1 222584505 [A/G] rs34595518 1 222606561 [T/C] rs17163128 1 222619902 [T/C] exm-rs17163128 1 222619902 [T/C] rs17163136 1 222625645 [T/C] exm2263851 1 222640209 [A/C] kgp11829886 1 222640879 [T/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 variant.10115 1 222696080 [A/G] NM_024746 HHIPL2 EXON Nonsense_R680X exm150797 1 222696171 [T/A] NM_024746 HHIPL2 EXON Missense_S649R exm1763700 1 222700317 [C/G] NM_024746 HHIPL2 EXON Missense_P600R variant.10117 1 222700352 [A/C] NM_024746 HHIPL2 EXON Nonsense_Y588X exm150812 1 222700374 [A/G] NM_024746 HHIPL2 EXON Missense_A581V variant.10118 1 222705307 [T/C] NM_024746 HHIPL2 Silent exm150818 1 222705379 [A/G] NM_024746 HHIPL2 EXON Missense_T551M exm150819 1 222705418 [T/G] NM_024746 HHIPL2 EXON Missense_K538T rs4846376 1 222707392 [T/C] NM_024746 HHIPL2 Silent exm150829 1 222712108 [T/G] NM_024746 HHIPL2 EXON Missense_L487M rs35746652 1 222713208 [A/G] NM_024746 HHIPL2 Silent 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 rs3811466 1 222717132 [T/C] NM_024746 HHIPL2 EXON Missense_V241M exm150875 1 222717264 [T/C] NM_024746 HHIPL2 EXON Missense_V197M indel.10122 1 222717329 [D/I] NM_024746 HHIPL2 EXON 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 rs4481859 1 222732656 [T/G] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A Silent,Silent,Silent exm150902 1 222734774 [T/C] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_S391N,Missense_S277N,Missense_S391N rs2133185 1 222738970 [A/G] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A Silent,Silent,Silent 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 rs3002124 1 222748085 [A/G] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A Silent,Silent,Silent exm150933 1 222750825 [T/A] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_Y189F,Missense_Y75F,Missense_Y189F indel.10129 1 222750856 [D/I] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A EXON exm150935 1 222750877 [A/G] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A EXON Missense_R172W,Missense_R58W,Missense_R172W variant.10130 1 222750976 [A/G] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A EXON Nonsense_Q139X,Nonsense_Q25X,Nonsense_Q139X rs2936033 1 222751034 [T/C] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A Silent,Silent,Silent 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 indel.10133 1 222761799 [I/D] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A EXON exm-rs17464857 1 222762709 [T/G] NM_001201536,NM_139352,NM_005681 TAF1A,TAF1A,TAF1A Silent,Silent,Silent rs3002142 1 222788062 [T/C] 1KG_1_222794607 1 222794607 [D/I] NM_198551 MIA3 EXON 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 variant.10134 1 222801635 [A/C] NM_198551 MIA3 EXON Nonsense_S358X 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 variant.10135 1 222802037 [A/G] NM_198551 MIA3 EXON Missense_G492D 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 rs2291832 1 222826481 [A/G] NM_198551 MIA3 Silent rs2088514 1 222831372 [A/G] NM_198551 MIA3 Silent 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 rs2270707 1 222837594 [A/G] NM_198551 MIA3 Silent exm151152 1 222838663 [A/G] NM_198551 MIA3 EXON Missense_R1809H exm151163 1 222838833 [A/G] NM_198551 MIA3 EXON Missense_G1866S variant.10141 1 222838936 [A/C] NM_198551 MIA3 EXON Nonsense_S1900X indel.10142 1 222838946 [D/I] NM_198551 MIA3 EXON exm151168 1 222838950 [T/C] NM_198551 MIA3 EXON Nonsense_Q1905X rs1053316 1 222839838 [A/G] NM_198551 MIA3 EXON Silent rs17163431 1 222858398 [T/C] NM_022831 AIDA Silent rs3811465 1 222886119 [A/G] NM_144695 BROX EXON Silent variant.10145 1 222892289 [T/C] NM_144695 BROX EXON Nonsense_R42X exm151202 1 222892325 [A/C] NM_144695 BROX EXON Missense_P54T exm151204 1 222892344 [T/C] NM_144695 BROX EXON Missense_A60V variant.10146 1 222892649 [T/C] NM_144695 BROX EXON Nonsense_R85X exm151207 1 222892660 [A/C] NM_144695 BROX EXON Missense_Q88H variant.10147 1 222892706 [A/G] NM_144695 BROX Silent 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 newrs144113819 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 rs17011714 1 222922168 [A/C] NM_207468 FAM177B Silent indel.10153 1 222922851 [D/I] NM_207468 FAM177B EXON rs2068814 1 222923001 [A/G] NM_207468 FAM177B Silent exm151275 1 222923351 [A/G] NM_207468 FAM177B EXON Missense_Q143R rs3922772 1 222951972 [T/C] rs17162912 1 222974926 [T/C] rs34419230 1 222987443 [T/C] rs34229647 1 222992740 [A/C] NM_032890 DISP1 Silent rs11487861 1 223004049 [T/G] NM_032890 DISP1 Silent rs34194482 1 223022931 [A/C] NM_032890 DISP1 Silent rs34764163 1 223034487 [A/G] NM_032890 DISP1 Silent rs34892353 1 223042940 [T/C] NM_032890 DISP1 Silent rs17163542 1 223068480 [T/C] NM_032890 DISP1 Silent rs34715037 1 223078802 [A/G] NM_032890 DISP1 Silent rs2068483 1 223082306 [A/G] NM_032890 DISP1 Silent rs35947998 1 223085331 [A/G] NM_032890 DISP1 Silent rs2609398 1 223096578 [A/G] NM_032890 DISP1 Silent rs2254329 1 223108966 [T/G] NM_032890 DISP1 Silent 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 variant.10155 1 223116637 [T/C] NM_032890 DISP1 EXON Nonsense_Q158X rs10495205 1 223123348 [A/G] NM_032890 DISP1 Silent rs2789931 1 223130319 [A/G] NM_032890 DISP1 Silent rs36017274 1 223147097 [A/G] NM_032890 DISP1 Silent rs34684409 1 223148727 [T/C] NM_032890 DISP1 Silent rs2789954 1 223159380 [A/G] NM_032890 DISP1 Silent rs17478205 1 223162746 [A/G] NM_032890 DISP1 Silent exm151312 1 223163993 [T/C] NM_032890 DISP1 EXON Missense_P189L exm151322 1 223164937 [A/G] NM_032890 DISP1 EXON Missense_K247E indel.10156 1 223168225 [I/D] NM_032890 DISP1 variant.10157 1 223175856 [T/C] NM_032890 DISP1 EXON Nonsense_R373X exm151343 1 223176061 [T/C] NM_032890 DISP1 EXON Missense_T441M exm151349 1 223176145 [T/C] NM_032890 DISP1 EXON Missense_L469S newrs147375741 1 223176941 [A/C] NM_032890 DISP1 EXON Nonsense_Y734X exm151389 1 223177116 [A/G] NM_032890 DISP1 EXON Missense_V793M exm151401 1 223177444 [A/G] NM_032890 DISP1 EXON Missense_G902E variant.10159 1 223177521 [T/C] NM_032890 DISP1 EXON Nonsense_Q928X 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 variant.10162 1 223179139 [T/G] NM_032890 DISP1 EXON Nonsense_L1467X rs2789948 1 223184459 [T/G] rs34558820 1 223188116 [T/G] exm2264956 1 223194033 [A/G] rs2609348 1 223194033 [A/G] rs17538400 1 223194696 [T/C] rs2789921 1 223209450 [T/G] rs946511 1 223213967 [A/G] rs755352 1 223214800 [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 indel.10165 1 223284167 [D/I] NM_003268 TLR5 EXON exm151493 1 223284214 [T/A] NM_003268 TLR5 EXON Missense_S720R exm151500 1 223284528 [A/G] NM_003268 TLR5 EXON Missense_F616L variant.10167 1 223284538 [T/G] NM_003268 TLR5 EXON Nonsense_Y612X 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 indel.10168 1 223285180 [D/I] NM_003268 TLR5 EXON 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 variant.10170 1 223285487 [T/G] NM_003268 TLR5 EXON Nonsense_S296X 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 indel.10172 1 223286256 [D/I] NM_003268 TLR5 EXON exm151572 1 223286273 [T/C] NM_003268 TLR5 EXON Missense_R34H rs851178 1 223306431 [A/G] NM_003268 TLR5 Silent rs2096142 1 223311845 [T/C] NM_003268 TLR5 Silent rs1640812 1 223323060 [A/C] rs2247421 1 223339689 [A/C] rs851171 1 223349020 [A/G] rs851165 1 223374948 [A/G] 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 indel.10177 1 223408378 [I/D] NM_017982,NM_001037175 SUSD4,SUSD4 EXON indel.10178 1 223408433 [D/I] NM_017982,NM_001037175 SUSD4,SUSD4 EXON rs851215 1 223414261 [T/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs851206 1 223424645 [T/C] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs712857 1 223434633 [A/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent 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 rs3820596 1 223441672 [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 rs17517806 1 223449236 [A/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent variant.10180 1 223465898 [A/G] NM_017982,NM_001037175 SUSD4,SUSD4 EXON Nonsense_R82X,Nonsense_R82X rs2795063 1 223466400 [A/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs17163774 1 223467316 [T/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent exm2268836 1 223467316 [T/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs1518044 1 223479813 [A/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs34468460 1 223482641 [A/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs17487717 1 223486421 [T/C] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs1518040 1 223497150 [A/G] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs1400960 1 223502811 [T/C] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent rs17163825 1 223523854 [T/C] NM_017982,NM_001037175 SUSD4,SUSD4 Silent,Silent indel.10181 1 223536720 [I/D] NM_017982,NM_001037175 SUSD4,SUSD4 EXON rs1772283 1 223553189 [T/C] rs2487521 1 223561802 [T/C] 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 rs10907376 1 223567803 [A/G] NM_152610 C1orf65 EXON Missense_G329D exm151706 1 223567808 [T/C] NM_152610 C1orf65 EXON Missense_R331W exm151723 1 223568054 [A/G] NM_152610 C1orf65 EXON Missense_V413M variant.10186 1 223568360 [T/C] NM_152610 C1orf65 EXON Nonsense_R515X exm151750 1 223568559 [G/C] NM_152610 C1orf65 EXON Missense_P581R rs1772290 1 223579329 [A/C] rs825130 1 223584719 [T/C] rs825116 1 223587515 [A/C] rs2678370 1 223594054 [T/C] rs825133 1 223604499 [T/C] rs1417749 1 223611033 [T/C] rs11261279 1 223627024 [T/C] rs11261280 1 223632045 [T/C] rs6689716 1 223638165 [T/C] rs6685346 1 223641440 [A/G] rs6657657 1 223642646 [T/C] rs6604717 1 223647907 [A/G] rs6691566 1 223648847 [T/G] rs4512640 1 223653362 [T/C] rs10907383 1 223656288 [T/C] rs6690293 1 223663505 [A/G] rs3922892 1 223672283 [A/G] rs4511103 1 223680537 [A/G] rs4421579 1 223690077 [T/C] exm151771 1 223716508 [T/C] NM_001143962 CAPN8 EXON Missense_R575Q exm151778 1 223718170 [T/C] NM_001143962 CAPN8 EXON Missense_R517Q newrs34606532 1 223722780 [A/G] NM_001143962 CAPN8 Silent exm151793 1 223724343 [T/A] NM_001143962 CAPN8 EXON Missense_F451L kgp1674489 1 223725513 [A/G] NM_001143962 CAPN8 Silent exm151794 1 223803680 [T/C] NM_001143962 CAPN8 EXON Missense_V435I rs35164209 1 223806157 [T/C] NM_001143962 CAPN8 Silent 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 rs17483822 1 223828623 [A/C] NM_001143962 CAPN8 Silent rs9804135 1 223832277 [A/G] NM_001143962 CAPN8 Silent rs2105405 1 223841836 [T/C] NM_001143962 CAPN8 Silent rs6668723 1 223845875 [T/C] NM_001143962 CAPN8 Silent rs6692983 1 223854684 [A/G] rs11587370 1 223869600 [T/G] rs10495214 1 223872494 [T/G] rs6662068 1 223874213 [T/C] rs17556570 1 223878700 [T/C] rs7555491 1 223894889 [A/G] NM_001146068 CAPN2 Silent 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 exm151851 1 223900562 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Silent,Missense_E74K rs2186006 1 223901545 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent 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 rs3738383 1 223905532 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Synonymous_L24L,Synonymous_L102L rs12080565 1 223905833 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent rs6685475 1 223909655 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent rs1419305 1 223912748 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent rs10916646 1 223917907 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent rs12066704 1 223931068 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent variant.10194 1 223931812 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Nonsense_W28X,Nonsense_W106X exm151863 1 223933020 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_G69S,Missense_G147S indel.10196 1 223934726 [I/D] NM_001146068,NM_001748 CAPN2,CAPN2 EXON 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 indel.10205 1 223947151 [D/I] NM_001146068,NM_001748 CAPN2,CAPN2 EXON 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 variant.10208 1 223951910 [T/G] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent exm151950 1 223954102 [T/A] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_E497V,Missense_E575V variant.10209 1 223958227 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 EXON Missense_G557S,Missense_G635S variant.10210 1 223958228 [T/G] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent rs1153952 1 223958547 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent 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 indel.10211 1 223959628 [D/I] NM_001146068,NM_001748 CAPN2,CAPN2 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 indel.10212 1 223959917 [I/D] NM_001146068,NM_001748 CAPN2,CAPN2 EXON variant.10213 1 223959943 [T/C] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent rs1153947 1 223960536 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent variant.10214 1 223962535 [A/G] NM_001146068,NM_001748 CAPN2,CAPN2 Silent,Silent rs6678103 1 223966391 [T/C] exm151989 1 223971861 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_R1107C,Missense_R978C exm2250796 1 223980207 [G/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Synonymous_L960L,Synonymous_L831L exm152003 1 223980207 [G/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Synonymous_L960L,Synonymous_L831L exm152005 1 223981097 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_H924Y,Missense_H795Y exm1764213 1 223983687 [T/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_N852D,Missense_N723D exm152015 1 223983695 [T/A] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_N849I,Missense_N720I indel.10215 1 223984186 [I/D] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON exm152024 1 223984248 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_H665Y,Missense_H536Y exm152038 1 223986186 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_L560P,Missense_L431P exm152050 1 223987605 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_A494V,Missense_A365V exm152054 1 223987681 [T/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_V469I,Missense_V340I rs16842257 1 223989022 [T/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 Silent,Silent rs1153933 1 223989966 [T/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Synonymous_S359S,Synonymous_S230S exm152086 1 223990510 [T/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_M307V,Missense_M178V exm152097 1 223991119 [T/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_Q229K,Missense_Q100K variant.10217 1 223991910 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Synonymous_H205H,Synonymous_H76H exm152100 1 223991930 [T/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_V199M,Missense_V70M exm152101 1 223991959 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_A189V,Missense_A60V var_1_223992017 1 223992017 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Nonsense_Q170X,Nonsense_Q41X variant.10219 1 223994583 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Nonsense_Q147X,Nonsense_Q18X exm152117 1 224001984 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_R83C,Silent exm152119 1 224002036 [T/A] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Missense_N65K,Silent exm2250798 1 224002042 [T/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Synonymous_A63A,Silent rs6604725 1 224002329 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 Silent,Silent exm2250799 1 224009058 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 EXON Synonymous_T13T,Silent rs2045733 1 224021459 [A/G] NM_001031685,NM_005426 TP53BP2,TP53BP2 Silent,Silent rs1890120 1 224026137 [T/C] NM_001031685,NM_005426 TP53BP2,TP53BP2 Silent,Silent rs7535882 1 224045479 [T/C] rs16842321 1 224046104 [A/G] exm2268837 1 224048645 [T/C] rs6604731 1 224051439 [T/C] rs10915917 1 224058273 [T/G] rs2126389 1 224061898 [A/G] rs723999 1 224063453 [A/G] kgp9825018 1 224175032 [T/C] rs2488513 1 224216822 [T/G] rs10916206 1 224237655 [A/C] rs4551564 1 224237716 [A/C] rs6604879 1 224239031 [T/C] rs10916209 1 224240313 [A/G] rs7517868 1 224251666 [A/G] rs7535721 1 224262149 [A/G] rs7544572 1 224265217 [T/C] rs6683927 1 224268954 [T/C] rs6663997 1 224275014 [A/G] rs1573185 1 224283064 [T/C] exm1764276 1 224301853 [A/C] NM_001136115,NM_015176,NR_049764 FBXO28,FBXO28,FBXO28 EXON Synonymous_R8R,Synonymous_R8R,Silent rs7546034 1 224307725 [T/C] NM_001136115,NM_015176,NR_049764 FBXO28,FBXO28,FBXO28 Silent,Silent,Silent rs869945 1 224321637 [A/G] NM_001136115,NM_015176,NR_049764 FBXO28,FBXO28,FBXO28 Silent,Silent,Silent rs6704386 1 224339094 [T/C] NM_001136115,NM_015176,NR_049764 FBXO28,FBXO28,FBXO28 Silent,Silent,Silent rs10429876 1 224339138 [T/C] NM_001136115,NM_015176,NR_049764 FBXO28,FBXO28,FBXO28 Silent,Silent,Silent exm152143 1 224340881 [A/G] NM_001136115,NM_015176,NR_049764 FBXO28,FBXO28,FBXO28 EXON Silent,Missense_N185S,Silent exm152149 1 224345067 [T/C] NM_001136115,NM_015176,NR_049764 FBXO28,FBXO28,FBXO28 EXON Missense_L177P,Synonymous_S242S,Silent exm152156 1 224345351 [A/G] NM_001136115,NM_015176,NR_049764 FBXO28,FBXO28,FBXO28 EXON Silent,Missense_G337E,Silent rs12239466 1 224345793 [T/C] NM_001136115,NM_015176,NR_049764 FBXO28,FBXO28,FBXO28 EXON Silent,Silent,Silent rs8328 1 224346959 [A/G] NM_001136115,NM_015176,NR_049764 FBXO28,FBXO28,FBXO28 EXON Silent,Silent,Silent exm2264957 1 224360892 [A/G] rs16844819 1 224360933 [T/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 rs908803 1 224381107 [T/C] NM_003676 DEGS1 EXON Silent rs12022755 1 224387749 [T/C] rs2139155 1 224396044 [A/G] rs6685440 1 224397220 [T/C] rs2011117 1 224398639 [T/C] rs10495222 1 224403769 [A/G] rs10799541 1 224411596 [A/G] exm152200 1 224415342 [A/G] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_S762P,Missense_S747P,Missense_S853P,Missense_S664P exm152202 1 224418939 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_I748V,Missense_I733V,Missense_I839V,Missense_I650V exm152211 1 224424239 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_I688V,Missense_I673V,Missense_I779V,Missense_I590V exm152214 1 224437967 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_V655M,Missense_V640M,Missense_V746M,Missense_V557M exm152216 1 224438009 [A/G] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_P641S,Missense_P626S,Missense_P732S,Missense_P543S rs6682667 1 224454099 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL Silent,Silent,Silent,Silent exm152221 1 224455754 [G/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_A631P,Missense_A616P,Missense_A722P,Missense_A533P variant.10221 1 224455820 [A/G] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Nonsense_R609X,Nonsense_R594X,Nonsense_R700X,Nonsense_R511X rs16845729 1 224459338 [A/G] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL Silent,Silent,Silent,Silent variant.10222 1 224463039 [A/G] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL Silent,Silent,Silent,Silent exm152228 1 224463118 [A/G] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Nonsense_R578X,Nonsense_R563X,Nonsense_R669X,Nonsense_R480X exm152231 1 224468829 [T/G] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_N562T,Missense_N547T,Missense_N653T,Missense_N464T exm152232 1 224468857 [T/G] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_I553L,Missense_I538L,Missense_I644L,Missense_I455L exm152237 1 224468878 [T/G] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_N546H,Missense_N531H,Missense_N637H,Missense_N448H exm152256 1 224477200 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_T430A,Missense_T415A,Missense_T521A,Missense_T332A exm152266 1 224482084 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_V313I,Missense_V298I,Missense_V404I,Missense_V215I exm1764325 1 224484278 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_I278V,Missense_I263V,Missense_I369V,Missense_I180V indel.10223 1 224488322 [I/D] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON exm152274 1 224488334 [C/G] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_A240G,Missense_A225G,Missense_A331G,Missense_A142G variant.10224 1 224491427 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_G229R,Missense_G214R,Missense_G320R,Missense_G104R exm152276 1 224491438 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_H225R,Missense_H210R,Missense_H316R,Missense_H100R exm152279 1 224491502 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_V204I,Missense_V189I,Missense_V295I,Missense_V79I exm1764335 1 224492479 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_V171M,Missense_V156M,Missense_V262M,Missense_V46M variant.10225 1 224492734 [A/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL Silent,Silent,Silent,Silent exm152285 1 224492744 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_Q156R,Missense_Q141R,Missense_Q247R,Missense_Q31R exm152287 1 224492783 [A/T] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_D143V,Missense_D128V,Missense_D234V,Missense_D18V exm152289 1 224492829 [A/G] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_R128W,Missense_R113W,Missense_R219W,Missense_R3W rs2001890 1 224494670 [T/G] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL Silent,Silent,Silent,Silent var_1_224495692 1 224495692 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL Silent,Silent,Silent,Silent exm152292 1 224495698 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Silent,Missense_I98V,Missense_I204V,Silent exm152293 1 224495707 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Silent,Missense_I95V,Missense_I201V,Silent rs7534447 1 224495852 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Silent,Synonymous_R46R,Synonymous_R152R,Silent exm152298 1 224495853 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Silent,Missense_R46Q,Missense_R152Q,Silent exm152299 1 224495905 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Silent,Missense_V29I,Missense_V135I,Silent exm152300 1 224495925 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Silent,Missense_R22Q,Missense_R128Q,Silent variant.10228 1 224495927 [A/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Silent,Nonsense_Y21X,Nonsense_Y127X,Silent indel.10229 1 224495931 [I/D] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON variant.10230 1 224499502 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Synonymous_Q114Q,Synonymous_Q8Q,Synonymous_Q114Q,Silent var_1_224505394 1 224505394 [D/I] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL rs6426110 1 224511533 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL Silent,Silent,Silent,Silent exm152314 1 224517810 [T/C] NM_001243147,NM_206840,NM_002533,NM_001243146 NVL,NVL,NVL,NVL EXON Missense_G7E,Silent,Missense_G7E,Silent rs7534101 1 224531559 [T/C] exm-rs11579964 1 224538940 [T/C] rs4653584 1 224541645 [A/G] rs7517754 1 224544529 [A/G] 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 indel.10233 1 224553631 [I/D] NM_014184 CNIH4 EXON exm1764362 1 224553693 [A/G] NM_014184 CNIH4 EXON Missense_R84Q variant.10235 1 224559127 [T/C] NM_014184 CNIH4 Silent exm152335 1 224563498 [A/G] NM_014184 CNIH4 EXON Missense_M132V exm152336 1 224563504 [T/G] NM_014184 CNIH4 EXON Missense_L134V rs11809710 1 224575874 [A/C] NM_001115113,NM_025160 WDR26,WDR26 EXON Silent,Silent exm152343 1 224581604 [A/G] NM_001115113,NM_025160 WDR26,WDR26 EXON Missense_M613T,Missense_M629T rs10799573 1 224625075 [T/C] rs2404785 1 224659778 [A/G] rs10916625 1 224682884 [A/G] rs1891243 1 224687445 [A/G] rs6695773 1 224704236 [T/G] rs7550648 1 224707177 [T/C] rs712068 1 224713564 [A/G] rs16841702 1 224753137 [T/C] rs6426142 1 224768252 [T/C] rs4654049 1 224772910 [T/C] rs1532557 1 224805112 [T/C] NM_152495 CNIH3 Silent rs9919286 1 224806976 [A/G] NM_152495 CNIH3 Silent rs883115 1 224807561 [T/C] NM_152495 CNIH3 Silent rs880496 1 224808134 [T/G] NM_152495 CNIH3 Silent rs6661853 1 224820448 [A/G] NM_152495 CNIH3 Silent exm2250804 1 224821550 [T/C] NM_152495 CNIH3 Silent rs10799590 1 224822482 [A/G] NM_152495 CNIH3 Silent rs12130499 1 224836514 [T/C] NM_152495 CNIH3 Silent rs1499282 1 224848250 [A/C] NM_152495 CNIH3 Silent rs791014 1 224850980 [T/C] NM_152495 CNIH3 Silent rs1337538 1 224854784 [A/G] 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 rs3738364 1 224872443 [A/G] NM_152495 CNIH3 Silent rs10915695 1 224874931 [T/C] NM_152495 CNIH3 Silent rs12025142 1 224876101 [A/C] NM_152495 CNIH3 Silent rs7543218 1 224879577 [A/C] NM_152495 CNIH3 Silent rs6696394 1 224880533 [T/G] NM_152495 CNIH3 Silent rs1436171 1 224881828 [A/G] NM_152495 CNIH3 Silent rs9725216 1 224886492 [T/G] NM_152495 CNIH3 Silent rs6675980 1 224898863 [T/C] NM_152495 CNIH3 Silent rs892975 1 224900110 [T/C] NM_152495 CNIH3 Silent rs6690131 1 224903823 [A/G] NM_152495 CNIH3 Silent rs12741660 1 224906158 [A/G] NM_152495 CNIH3 Silent rs1561109 1 224906444 [T/C] NM_152495 CNIH3 Silent rs1010735 1 224915429 [T/G] NM_152495 CNIH3 Silent rs16853130 1 224916593 [A/G] NM_152495 CNIH3 Silent rs2574881 1 224966644 [A/G] rs2802559 1 224971229 [A/G] rs2802745 1 224987113 [A/G] rs12081821 1 224991534 [A/G] rs11810181 1 225008581 [T/C] rs3856143 1 225026240 [A/C] rs10915732 1 225038158 [A/C] rs1892123 1 225044284 [A/G] rs2244113 1 225062793 [A/G] rs2051158 1 225067331 [T/C] rs1936635 1 225090870 [A/C] rs2501082 1 225106597 [T/C] rs2449272 1 225117013 [A/C] rs2128268 1 225137134 [A/G] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 Silent,Silent,Silent exm152422 1 225140459 [T/G] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 EXON Nonsense_E19X,Nonsense_E19X,Nonsense_E19X variant.10244 1 225142688 [T/G] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 EXON Nonsense_Y35X,Nonsense_Y35X,Nonsense_Y35X exm152427 1 225142710 [A/T] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 EXON Missense_T43S,Missense_T43S,Missense_T43S variant.10246 1 225147881 [T/C] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 EXON Nonsense_Q82X,Nonsense_Q82X,Nonsense_Q82X indel.10247 1 225147925 [I/D] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 EXON 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 rs12023087 1 225152505 [A/G] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 Silent,Silent,Silent exm152446 1 225155176 [A/G] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 EXON Missense_R181Q,Missense_R181Q,Missense_R181Q variant.10250 1 225155218 [T/G] NM_001145154,NM_001373,NM_144989 DNAH14,DNAH14,DNAH14 EXON Missense_V195G,Missense_V195G,Missense_V195G 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 rs2449276 1 225206826 [A/G] NM_001145154,NM_001373 DNAH14,DNAH14 Silent,Silent exm152470 1 225211422 [T/C] NM_001145154,NM_001373 DNAH14,DNAH14 EXON Missense_F405L,Missense_F405L rs10399941 1 225215123 [A/G] NM_001373 DNAH14 Silent exm2232594 1 225226478 [A/C] NM_001373 DNAH14 EXON Missense_I481L exm2232595 1 225230786 [T/A] NM_001373 DNAH14 EXON Missense_I580F rs1506074 1 225232264 [T/G] NM_001373 DNAH14 Silent exm152474 1 225237950 [A/G] NM_001373 DNAH14 EXON Missense_I651V indel.10256 1 225266940 [D/I] NM_001373 DNAH14 EXON variant.10257 1 225267041 [T/C] NM_001373 DNAH14 EXON Nonsense_Q853X 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 indel.10260 1 225284866 [D/I] NM_001373 DNAH14 EXON rs4275419 1 225287476 [T/C] NM_001373 DNAH14 Silent exm152511 1 225288534 [A/C] NM_001373 DNAH14 EXON Missense_E1272A rs16844324 1 225327612 [A/G] NM_001373 DNAH14 Silent exm152522 1 225328432 [T/G] NM_001373 DNAH14 Silent exm152529 1 225332296 [C/G] NM_001373 DNAH14 EXON Missense_T1552R newrs80023327 1 225334919 [I/D] NM_001373 DNAH14 EXON rs1842332 1 225340241 [T/C] NM_001373 DNAH14 Silent exm152536 1 225340410 [A/G] NM_001373 DNAH14 EXON Missense_G1657E exm152541 1 225341473 [A/G] NM_001373 DNAH14 EXON Missense_R1723G variant.10266 1 225347015 [A/G] NM_001373 DNAH14 Silent exm152546 1 225373072 [T/C] NM_001373 DNAH14 EXON Missense_T1850M variant.10269 1 225373128 [A/G] NM_001373 DNAH14 Silent rs1572750 1 225380088 [A/G] NM_001373 DNAH14 Silent exm152551 1 225380398 [A/G] NM_001373 DNAH14 EXON Missense_I1869V exm152555 1 225380603 [A/C] NM_001373 DNAH14 EXON Missense_D1937A rs9803691 1 225391396 [A/G] NM_001373 DNAH14 Silent exm152562 1 225394812 [A/G] NM_001373 DNAH14 EXON Missense_R2088H rs649637 1 225410051 [T/C] NM_001373 DNAH14 Silent rs664855 1 225419456 [T/C] NM_001373 DNAH14 Silent rs584720 1 225427066 [A/G] NM_001373 DNAH14 Silent 1KG_1_225428339 1 225428339 [I/D] NM_001373 DNAH14 EXON rs627414 1 225442953 [A/G] NM_001373 DNAH14 Silent variant.10273 1 225446910 [A/C] NM_001373 DNAH14 EXON Nonsense_S2365X rs12564045 1 225449050 [A/G] NM_001373 DNAH14 Silent exm152583 1 225452967 [A/G] NM_001373 DNAH14 EXON Missense_I2430V exm152585 1 225452983 [A/G] NM_001373 DNAH14 EXON Missense_N2435S 1KG_1_225458504 1 225458504 [I/D] NM_001373 DNAH14 EXON indel.10274 1 225458505 [I/D] NM_001373 DNAH14 EXON exm152596 1 225459761 [T/C] NM_001373 DNAH14 EXON Nonsense_R2603X rs6696665 1 225471048 [T/C] NM_001373 DNAH14 Silent rs11587822 1 225474997 [T/G] NM_001373 DNAH14 Silent rs12042076 1 225477546 [A/C] NM_001373 DNAH14 Silent exm152614 1 225490915 [T/C] NM_001373 DNAH14 EXON Missense_R2804C exm152619 1 225492710 [T/C] NM_001373 DNAH14 EXON Missense_T2882I rs12035153 1 225493668 [T/C] NM_001373 DNAH14 Silent rs685029 1 225494218 [T/C] NM_001373 DNAH14 Silent exm152622 1 225495188 [A/G] NM_001373 DNAH14 EXON Missense_T2918A rs12403278 1 225506427 [A/G] NM_001373 DNAH14 Silent variant.10278 1 225512438 [A/G] NM_001373 DNAH14 Silent exm152635 1 225512481 [A/G] NM_001373 DNAH14 EXON Missense_V3131I rs17521900 1 225516861 [A/C] NM_001373 DNAH14 Silent exm152638 1 225519212 [A/G] NM_001373 DNAH14 EXON Missense_R3173Q exm2232600 1 225519233 [T/G] NM_001373 DNAH14 EXON Missense_R3180L rs12036489 1 225520212 [T/C] NM_001373 DNAH14 Silent 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 rs12728785 1 225528665 [A/G] NM_001373 DNAH14 Silent 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 indel.10283 1 225534218 [D/I] NM_001373 DNAH14 EXON rs7527925 1 225534219 [T/C] NM_001373 DNAH14 EXON Missense_V3627A 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 rs16844752 1 225535308 [A/G] NM_001373 DNAH14 Silent rs12134319 1 225535592 [A/G] NM_001373 DNAH14 Silent exm152677 1 225539363 [A/G] NM_001373 DNAH14 EXON Missense_G3678S rs3913654 1 225540026 [T/C] NM_001373 DNAH14 Silent rs6693582 1 225548126 [A/G] NM_001373 DNAH14 Silent exm152694 1 225555602 [T/G] NM_001373 DNAH14 EXON Missense_N3969K rs12737248 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 indel.10286 1 225565048 [D/I] NM_001373 DNAH14 EXON exm152707 1 225567870 [T/G] NM_001373 DNAH14 EXON Missense_Q4140H exm152709 1 225569094 [T/C] NM_001373 DNAH14 EXON Missense_P4195L variant.10287 1 225569141 [T/C] NM_001373 DNAH14 EXON Nonsense_R4211X exm152714 1 225569241 [T/G] NM_001373 DNAH14 EXON Missense_F4244C rs950210 1 225569241 [T/G] NM_001373 DNAH14 EXON Missense_F4244C indel.10288 1 225569248 [I/D] NM_001373 DNAH14 EXON rs3949347 1 225582816 [A/G] NM_001373 DNAH14 Silent 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 variant.10290 1 225594366 [A/G] NM_194442,NM_002296 LBR,LBR EXON Missense_L495F,Missense_L495F 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 var_1_225599113 1 225599113 [A/G] NM_194442,NM_002296 LBR,LBR EXON Missense_R372C,Missense_R372C 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 rs2230419 1 225607144 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_S154N,Missense_S154N exm152816 1 225607144 [T/C] NM_194442,NM_002296 LBR,LBR EXON Missense_S154N,Missense_S154N variant.10292 1 225607502 [T/G] NM_194442,NM_002296 LBR,LBR Silent,Silent 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 rs11588279 1 225613976 [T/C] NM_194442,NM_002296 LBR,LBR Silent,Silent rs2066233 1 225618159 [A/G] rs4653637 1 225624016 [A/G] rs10799312 1 225653150 [A/G] rs7515963 1 225665284 [T/C] rs10915840 1 225668524 [A/G] rs10799318 1 225672596 [T/G] 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 rs1891000 1 225689665 [T/C] NM_018212,NM_001008493 ENAH,ENAH Silent,Silent 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 rs712062 1 225756293 [T/G] NM_018212,NM_001008493 ENAH,ENAH Silent,Silent rs16845098 1 225781165 [T/C] NM_018212,NM_001008493 ENAH,ENAH Silent,Silent rs7515673 1 225801554 [T/C] NM_018212,NM_001008493 ENAH,ENAH Silent,Silent rs1075364 1 225815635 [T/C] NM_018212,NM_001008493 ENAH,ENAH Silent,Silent rs2639712 1 225842940 [T/C] rs7519220 1 225863345 [A/G] rs2769685 1 225872632 [T/C] rs2615060 1 225873612 [A/C] rs902959 1 225885157 [T/C] rs2615066 1 225889445 [T/C] rs6701838 1 225894423 [T/G] rs12044217 1 225902582 [T/C] rs12081218 1 225903098 [A/G] rs6694179 1 225914541 [T/G] rs4653662 1 225921655 [T/C] rs10799322 1 225928538 [A/C] rs2615074 1 225933475 [A/G] rs11588772 1 225944165 [T/C] rs2126345 1 225944658 [T/G] rs1557092 1 225955919 [T/C] rs6685014 1 225958857 [A/C] rs6677132 1 225967597 [A/C] NM_003133,NM_001130440 SRP9,SRP9 Silent,Silent rs17571004 1 225969031 [T/C] NM_003133,NM_001130440 SRP9,SRP9 Silent,Silent rs12568108 1 225973777 [T/C] NM_003133,NM_001130440 SRP9,SRP9 Silent,Silent rs12031296 1 225975271 [A/G] NM_003133,NM_001130440 SRP9,SRP9 Silent,Silent rs10737420 1 225997070 [A/G] kgp15328133 1 225997826 [A/G] NM_001136018 EPHX1 EXON Silent rs2854451 1 226012614 [A/G] NM_001136018 EPHX1 Silent rs3753658 1 226012686 [T/G] NM_001136018 EPHX1 Silent rs3738039 1 226013037 [T/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Silent,Silent kgp12212294 1 226013041 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Silent,Silent kgp25084949 1 226013072 [T/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Silent,Silent rs3753661 1 226014342 [T/G] NM_001136018,NM_000120 EPHX1,EPHX1 Silent,Silent rs2671272 1 226015116 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 Silent,Silent variant.10296 1 226016531 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Nonsense_W34X,Nonsense_W34X exm152977 1 226016551 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_A41T,Missense_A41T kgp25117122 1 226016558 [C/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_R43T,Missense_R43T 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 rs2234698 1 226019500 [T/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Synonymous_D68D,Synonymous_D68D exm152986 1 226019508 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_R71H,Missense_R71H kgp15304712 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 rs4986931 1 226019586 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Nonsense_W97X,Nonsense_W97X rs1051740 1 226019633 [T/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_Y113H,Missense_Y113H 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 rs2292566 1 226019653 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Synonymous_K119K,Synonymous_K119K rs2740168 1 226020988 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 Silent,Silent 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 rs2234922 1 226026406 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_H139R,Missense_H139R 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 kgp3413831 1 226027548 [T/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Synonymous_H247H,Synonymous_H247H kgp15134038 1 226027569 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Synonymous_L254L,Synonymous_L254L exm153025 1 226027575 [A/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_N256K,Missense_N256K kgp3917924 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 kgp25126874 1 226027630 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_T275A,Missense_T275A kgp3258229 1 226027659 [T/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Synonymous_P284P,Synonymous_P284P exm153035 1 226027735 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_V310I,Missense_V310I rs1051741 1 226032229 [T/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Synonymous_N357N,Synonymous_N357N rs2137841 1 226032319 [A/T] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_H387Q,Missense_H387Q rs4149227 1 226032530 [A/C] NM_001136018,NM_000120 EPHX1,EPHX1 Silent,Silent kgp15622455 1 226032896 [T/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Synonymous_L406L,Synonymous_L406L exm153048 1 226032903 [T/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_T408M,Missense_T408M kgp15192995 1 226032919 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Synonymous_V413V,Synonymous_V413V kgp15452835 1 226032928 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Synonymous_K416K,Synonymous_K416K rs4149229 1 226032928 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Synonymous_K416K,Synonymous_K416K exm153052 1 226032962 [T/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_R428C,Missense_R428C rs4149230 1 226033030 [C/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Synonymous_S450S,Synonymous_S450S exm153058 1 226033041 [A/G] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Missense_R454Q,Missense_R454Q rs4653695 1 226033083 [A/C] NM_001136018,NM_000120 EPHX1,EPHX1 EXON Silent,Silent kgp7100095 1 226033663 [T/C] NM_014698 TMEM63A EXON Silent rs2740174 1 226033969 [A/G] NM_014698 TMEM63A EXON Silent kgp9339900 1 226034182 [T/C] NM_014698 TMEM63A EXON Silent kgp15420551 1 226034375 [A/G] NM_014698 TMEM63A EXON Silent exm153064 1 226034787 [A/G] NM_014698 TMEM63A EXON Missense_A793V kgp9612428 1 226034909 [A/G] NM_014698 TMEM63A EXON Synonymous_Y752Y 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 rs10915886 1 226037887 [T/G] NM_014698 TMEM63A Silent 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 kgp5104913 1 226044391 [A/G] NM_014698 TMEM63A EXON Synonymous_I511I exm153124 1 226046964 [T/C] NM_014698 TMEM63A EXON Missense_T437A kgp8044632 1 226046974 [T/C] NM_014698 TMEM63A EXON Synonymous_L433L exm153131 1 226048611 [T/C] NM_014698 TMEM63A EXON Missense_Y391C exm153134 1 226048680 [T/C] NM_014698 TMEM63A EXON Missense_N368S kgp15375502 1 226048680 [T/C] NM_014698 TMEM63A EXON Missense_N368S indel.10317 1 226050276 [I/D] NM_014698 TMEM63A EXON exm153150 1 226050490 [A/T] NM_014698 TMEM63A EXON Missense_I270F exm153151 1 226050502 [T/C] NM_014698 TMEM63A EXON Missense_V266M kgp15823942 1 226050503 [A/G] NM_014698 TMEM63A EXON Synonymous_N265N kgp8662845 1 226050512 [T/C] NM_014698 TMEM63A EXON Synonymous_L262L 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 rs2292564 1 226055595 [A/G] NM_014698 TMEM63A EXON Synonymous_D169D 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 var_1_226059707 1 226059707 [A/G] NM_014698 TMEM63A EXON Nonsense_Q105X exm153194 1 226065232 [T/C] NM_014698 TMEM63A EXON Missense_I17V exm153199 1 226065268 [C/G] NM_014698 TMEM63A EXON Missense_P5A kgp15825448 1 226065283 [A/C] NM_014698 TMEM63A EXON Silent kgp15286371 1 226065291 [T/C] NM_014698 TMEM63A EXON Silent rs360102 1 226067862 [A/G] NM_014698 TMEM63A Silent rs3753668 1 226071754 [T/C] 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 rs360059 1 226077132 [A/G] rs1877726 1 226077231 [A/G] rs360071 1 226091735 [T/C] rs10915896 1 226095048 [T/C] exm1764791 1 226108177 [G/C] NM_013328,NM_001271681 PYCR2,PYCR2 EXON Missense_A314G,Missense_A240G variant.10322 1 226108314 [T/C] NM_013328,NM_001271681 PYCR2,PYCR2 EXON Synonymous_L268L,Synonymous_L194L exm1764802 1 226109278 [T/C] NM_013328,NM_001271681 PYCR2,PYCR2 EXON Missense_I203V,Missense_I129V exm153278 1 226109287 [A/G] NM_013328,NM_001271681 PYCR2,PYCR2 EXON Missense_R200C,Missense_R126C exm2232619 1 226109948 [T/C] NM_013328,NM_001271681 PYCR2,PYCR2 EXON Missense_V92M,Missense_V92M exm153297 1 226110014 [C/G] NM_013328,NM_001271681 PYCR2,PYCR2 EXON Missense_V70L,Missense_V70L exm153298 1 226110029 [T/C] NM_013328,NM_001271681 PYCR2,PYCR2 EXON Missense_V65I,Missense_V65I exm153312 1 226125169 [A/G] NM_003240,NM_001172425 LEFTY2,LEFTY2 EXON Missense_A358V,Missense_A324V exm153336 1 226127272 [T/C] NM_003240,NM_001172425 LEFTY2,LEFTY2 EXON Missense_K176E,Missense_K142E exm153353 1 226128672 [T/C] NM_003240,NM_001172425 LEFTY2,LEFTY2 EXON Missense_V57M,Missense_V57M exm153356 1 226128744 [A/G] NM_003240,NM_001172425 LEFTY2,LEFTY2 EXON Missense_R33W,Missense_R33W rs2493163 1 226131691 [T/C] rs12728713 1 226160511 [T/C] rs2816330 1 226166027 [A/G] rs10915916 1 226166555 [T/G] 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 variant.10329 1 226175611 [A/G] NM_152608 SDE2 EXON Nonsense_Q374X indel.10330 1 226175677 [D/I] NM_152608 SDE2 EXON 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 variant.10331 1 226175932 [A/G] NM_152608 SDE2 EXON Nonsense_Q267X variant.10332 1 226176076 [A/C] NM_152608 SDE2 EXON Nonsense_G219X exm153403 1 226180186 [T/C] NM_152608 SDE2 EXON Missense_V145I exm153407 1 226180227 [T/C] NM_152608 SDE2 EXON Missense_E131G var_1_226180591 1 226180591 [A/C] NM_152608 SDE2 Silent exm153409 1 226180592 [A/G] NM_152608 SDE2 EXON Missense_A117V indel.10336 1 226180664 [I/D] NM_152608 SDE2 EXON variant.10337 1 226183050 [T/C] NM_152608 SDE2 EXON Missense_N52S rs11808474 1 226195946 [T/C] rs11580276 1 226202334 [T/C] rs4653704 1 226222657 [A/G] rs12754943 1 226228627 [T/C] rs10915924 1 226234883 [T/C] rs4271181 1 226266029 [A/G] rs12096737 1 226276554 [T/G] rs10915933 1 226279050 [A/G] rs1355391 1 226285151 [A/G] rs7515023 1 226300488 [T/C] rs3887559 1 226317841 [T/G] rs1219671 1 226319520 [A/G] exm153441 1 226340046 [G/C] NM_022735 ACBD3 EXON Missense_E455D indel.10338 1 226340120 [D/I] NM_022735 ACBD3 EXON indel.10339 1 226340287 [D/I] NM_022735 ACBD3 EXON exm153454 1 226342371 [T/G] NM_022735 ACBD3 EXON Missense_E356A exm153457 1 226342446 [A/G] NM_022735 ACBD3 EXON Missense_M331T variant.10340 1 226346880 [T/C] NM_022735 ACBD3 Silent 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 rs1219663 1 226350367 [T/C] NM_022735 ACBD3 Silent rs4653719 1 226350383 [A/G] NM_022735 ACBD3 Silent exm153476 1 226352498 [T/G] NM_022735 ACBD3 EXON Missense_E187D exm153479 1 226352599 [T/C] NM_022735 ACBD3 EXON Missense_K154E variant.10342 1 226352622 [T/C] NM_022735 ACBD3 EXON Nonsense_W146X rs12402078 1 226355373 [A/G] NM_022735 ACBD3 Silent rs3845505 1 226355420 [A/C] NM_022735 ACBD3 Silent rs9286998 1 226360795 [T/C] NM_022735 ACBD3 Silent rs10753415 1 226385623 [T/C] rs10495244 1 226387618 [A/G] rs11811952 1 226401914 [A/G] rs11810473 1 226403979 [A/G] rs3008192 1 226404457 [T/C] 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 rs10799347 1 226474132 [A/G] NM_001270409,NM_001270410,NM_173083 LIN9,LIN9,LIN9 EXON Synonymous_F123F,Synonymous_F90F,Synonymous_F158F rs10127776 1 226474479 [A/G] NM_001270409,NM_001270410,NM_173083 LIN9,LIN9,LIN9 Silent,Silent,Silent variant.10347 1 226485415 [T/C] NM_001270409,NM_001270410,NM_173083 LIN9,LIN9,LIN9 Silent,Silent,Silent 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 rs11802954 1 226491656 [A/G] NM_001270409,NM_001270410,NM_173083 LIN9,LIN9,LIN9 Silent,Silent,Silent rs2615762 1 226498612 [A/G] rs10915975 1 226521192 [T/C] rs11800726 1 226523560 [T/C] rs6426551 1 226542049 [A/G] rs12567614 1 226544420 [T/C] 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 rs3219110 1 226557878 [T/C] NM_001618 PARP1 Silent exm153619 1 226562006 [T/C] NM_001618 PARP1 EXON Missense_K664R rs3219090 1 226564691 [T/C] NM_001618 PARP1 Silent exm153623 1 226564855 [A/G] NM_001618 PARP1 EXON Missense_T632M rs907190 1 226566726 [A/C] NM_001618 PARP1 Silent 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 indel.10350 1 226568845 [I/D] NM_001618 PARP1 EXON 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 rs2293464 1 226576296 [A/G] NM_001618 PARP1 Silent 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 rs2136875 1 226606536 [A/G] rs1527365 1 226611363 [T/C] rs12025226 1 226612023 [A/G] rs10915993 1 226618382 [A/C] exm-rs7531792 1 226626277 [A/G] rs10799352 1 226631272 [T/C] rs10495245 1 226640376 [A/C] rs12033699 1 226655011 [A/G] rs10799355 1 226665284 [A/G] rs898834 1 226670795 [T/C] rs898833 1 226670999 [T/C] rs17519476 1 226677818 [A/G] rs990618 1 226678384 [T/C] rs12402021 1 226683251 [T/C] rs7524430 1 226693542 [T/C] rs1151815 1 226694739 [T/C] rs506128 1 226702300 [A/G] rs11585765 1 226704825 [T/C] rs751684 1 226708398 [A/G] rs7545563 1 226717942 [A/C] rs16846092 1 226729492 [A/C] rs589616 1 226769798 [A/G] NM_001003665 C1orf95 Silent rs837919 1 226772712 [T/C] NM_001003665 C1orf95 Silent rs12035052 1 226772889 [A/G] NM_001003665 C1orf95 Silent exm153745 1 226785102 [A/G] NM_001003665 C1orf95 Silent rs708754 1 226785742 [A/G] NM_001003665 C1orf95 Silent rs878148 1 226790621 [T/C] NM_001003665 C1orf95 EXON Silent rs3820632 1 226790951 [A/G] NM_001003665 C1orf95 EXON Silent rs6697883 1 226797733 [A/G] rs2078211 1 226807117 [T/G] rs708757 1 226807512 [T/C] exm2250820 1 226813061 [T/C] rs6696348 1 226817467 [T/C] rs697846 1 226817699 [A/G] rs1144840 1 226819833 [A/G] NM_002221 ITPKB EXON Silent 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 rs4653762 1 226836190 [A/C] NM_002221 ITPKB Silent rs3820636 1 226841347 [A/G] NM_002221 ITPKB Silent rs10916025 1 226855889 [C/G] NM_002221 ITPKB Silent rs12094617 1 226859676 [T/G] NM_002221 ITPKB Silent rs708766 1 226865254 [A/C] NM_002221 ITPKB Silent rs940659 1 226875552 [T/C] NM_002221 ITPKB Silent rs3768403 1 226898992 [A/G] NM_002221 ITPKB Silent rs708772 1 226912891 [T/C] NM_002221 ITPKB Silent rs3768414 1 226917898 [A/G] NM_002221 ITPKB Silent rs708773 1 226920730 [T/C] NM_002221 ITPKB Silent rs3754411 1 226920773 [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 rs1110033 1 226928864 [A/G] rs708777 1 226933722 [A/G] rs12729579 1 226956181 [T/C] rs12033364 1 226965174 [A/G] rs10495250 1 226973381 [A/G] rs6659113 1 226996412 [A/G] rs6660716 1 226999183 [A/C] rs6426548 1 227013878 [T/C] rs9660802 1 227017031 [T/C] rs3177404 1 227063229 [T/C] NM_012486,NM_000447 PSEN2,PSEN2 EXON Silent,Silent rs11405 1 227069677 [T/C] NM_012486,NM_000447 PSEN2,PSEN2 EXON Synonymous_A23A,Synonymous_A23A 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 rs1295640 1 227070378 [T/C] NM_012486,NM_000447 PSEN2,PSEN2 Silent,Silent 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 variant.10360 1 227073297 [A/G] NM_012486,NM_000447 PSEN2,PSEN2 EXON Missense_V139M,Missense_V139M 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 rs1800672 1 227085462 [T/C] rs12405469 1 227090500 [A/G] rs1938386 1 227097039 [T/G] rs10916066 1 227098588 [A/G] rs16846679 1 227118741 [A/G] rs17319408 1 227118912 [T/C] rs2777840 1 227127618 [A/G] 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 rs2154367 1 227153930 [A/G] NM_020247 ADCK3 Silent 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 rs8159 1 227174902 [A/G] NM_020247 ADCK3 EXON Silent rs2802275 1 227176511 [A/G] rs1045289 1 227178713 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Silent,Silent exm2273349 1 227178948 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Silent,Silent exm154203 1 227182033 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_A1618V,Missense_A1699V exm154206 1 227182529 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_G1594R,Missense_G1675R exm2232646 1 227182538 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_D1591N,Missense_D1672N rs17528049 1 227191656 [A/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs3818694 1 227192477 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm154223 1 227192743 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_R1527C,Missense_R1608C exm154238 1 227203825 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_M1489V,Missense_M1570V rs17600747 1 227204557 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm154240 1 227204673 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_R1449H,Missense_R1530H rs3795453 1 227205331 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm154243 1 227211032 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_N1400S,Missense_N1481S exm154249 1 227216376 [A/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_A1356S,Missense_A1437S rs1929861 1 227216662 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Synonymous_K1260K,Synonymous_K1341K exm154259 1 227216775 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_V1223I,Missense_V1304I variant.10392 1 227218994 [A/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm154269 1 227219067 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_Y1120C,Missense_Y1201C exm154270 1 227219076 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_R1117H,Missense_R1198H exm154276 1 227221085 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_A1054T,Missense_A1135T indel.10393 1 227223204 [I/D] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON exm154284 1 227223273 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_K963E,Missense_K1044E variant.10394 1 227239581 [A/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent var_1_227239632 1 227239632 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm154314 1 227268601 [T/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_I744L,Missense_I825L exm2232649 1 227268705 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_Y709C,Missense_Y790C rs11811176 1 227273980 [T/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm154317 1 227279603 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_T699M,Missense_T780M rs498020 1 227304180 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent var_1_227307640 1 227307640 [T/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs12134379 1 227325759 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm154354 1 227333195 [T/A] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_N380Y,Missense_N380Y rs11800062 1 227348126 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm154367 1 227348245 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_T231M,Missense_T231M rs2175789 1 227354535 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs6426578 1 227357475 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs12742066 1 227371906 [A/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs12035998 1 227374760 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm154380 1 227381550 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_R179K,Missense_R179K exm154381 1 227387293 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA EXON Missense_T139A,Missense_T139A rs2670452 1 227405833 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent exm2268840 1 227418130 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs7519099 1 227426205 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs2813973 1 227428406 [T/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs4630094 1 227431406 [T/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs7540055 1 227477442 [A/G] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs7519121 1 227486433 [A/C] NM_014826,NM_003607 CDC42BPA,CDC42BPA Silent,Silent rs10916122 1 227513033 [T/C] rs6696713 1 227514656 [T/G] rs3127000 1 227524891 [A/G] rs4075196 1 227542229 [A/G] rs4075861 1 227542811 [A/G] rs10916134 1 227566134 [T/G] rs7533453 1 227576220 [A/C] rs6697269 1 227582562 [T/C] rs3014274 1 227583800 [A/G] rs6659701 1 227586401 [A/G] rs3000784 1 227598169 [A/G] rs3014294 1 227603763 [A/G] rs12028062 1 227611295 [A/G] rs3014302 1 227617761 [T/C] rs12125212 1 227618683 [A/G] rs16847813 1 227618915 [T/C] rs7546172 1 227622011 [A/G] rs2819516 1 227637092 [T/C] rs1495855 1 227654294 [A/G] rs1587158 1 227658753 [A/G] rs1390403 1 227673227 [A/C] rs903698 1 227677506 [A/G] rs2819493 1 227689829 [T/C] rs1495842 1 227696594 [T/C] rs1495849 1 227736363 [A/G] rs10495276 1 227736946 [T/C] rs6696239 1 227750068 [A/G] rs12025815 1 227758072 [A/G] NR_033184,NM_178549 ZNF678,ZNF678 Silent,Silent rs12070002 1 227819490 [A/G] NR_033184,NM_178549 ZNF678,ZNF678 Silent,Silent variant.10397 1 227834301 [A/C] NR_033184,NM_178549 ZNF678,ZNF678 EXON Silent,Nonsense_C60X variant.10398 1 227834317 [T/C] NR_033184,NM_178549 ZNF678,ZNF678 EXON Silent,Nonsense_R66X newrs185492658 1 227834352 [A/C] NR_033184,NM_178549 ZNF678,ZNF678 EXON Silent,Nonsense_Y77X variant.10400 1 227838706 [A/C] NR_033184,NM_178549 ZNF678,ZNF678 EXON 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 indel.10402 1 227843040 [D/I] NR_033184,NM_178549 ZNF678,ZNF678 EXON indel.10403 1 227843165 [I/D] NR_033184,NM_178549 ZNF678,ZNF678 EXON indel.10404 1 227843407 [D/I] NR_033184,NM_178549 ZNF678,ZNF678 EXON exm154496 1 227843423 [A/G] NR_033184,NM_178549 ZNF678,ZNF678 EXON Silent,Missense_C546Y rs1923822 1 227885726 [A/G] rs12097239 1 227912474 [A/G] rs1060295 1 227920061 [T/G] NR_024486,NR_024485,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Silent,Silent exm154513 1 227920196 [A/G] NR_024486,NR_024485,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_A430V,Missense_A414V indel.10405 1 227920348 [I/D] NR_024486,NR_024485,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON exm1765715 1 227920353 [T/C] NR_024486,NR_024485,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_I378V,Missense_I362V exm154523 1 227920602 [T/C] NR_024486,NR_024485,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_D363N,Silent exm154525 1 227920623 [T/C] NR_024486,NR_024485,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_E356K,Silent exm154529 1 227920665 [A/G] NR_024486,NR_024485,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_F342L,Missense_F342L exm154530 1 227920668 [A/G] NR_024486,NR_024485,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_R341C,Missense_R341C exm154534 1 227920694 [T/C] NR_024486,NR_024485,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_N332S,Missense_N332S exm2250831 1 227921166 [T/C] NR_024486,NR_024485,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Synonymous_A303A,Synonymous_A303A exm154542 1 227921228 [T/C] NR_024486,NR_024485,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_D283N,Missense_D283N exm154550 1 227921714 [T/C] NR_024486,NR_024485,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_V196I,Missense_V196I exm154551 1 227921717 [T/C] NR_024486,NR_024485,NM_023007,NM_001161465 LOC100130093,LOC100130093,JMJD4,JMJD4 EXON Silent,Silent,Missense_D195N,Missense_D195N variant.10411 1 227922410 [A/G] NM_023007,NM_001161465 JMJD4,JMJD4 EXON Nonsense_Q170X,Nonsense_Q170X indel.10413 1 227922442 [I/D] NM_023007,NM_001161465 JMJD4,JMJD4 EXON 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 rs16848112 1 227934750 [T/C] NM_053052 SNAP47 Silent exm154592 1 227935421 [T/C] NM_053052 SNAP47 EXON Missense_T40I rs2236359 1 227935444 [A/G] NM_053052 SNAP47 EXON Missense_R48G 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 rs6683757 1 227959417 [T/C] NM_053052 SNAP47 Silent rs10799447 1 227966581 [T/C] NM_053052 SNAP47 Silent exm154660 1 227968303 [A/G] NM_053052 SNAP47 EXON Missense_V442I rs10916214 1 228003247 [A/G] 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 rs7410917 1 228010782 [T/C] NM_183062 PRSS38 Silent rs6426481 1 228024977 [A/C] NM_183062 PRSS38 Silent rs12565154 1 228027310 [A/G] NM_183062 PRSS38 Silent 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 rs11589239 1 228037278 [T/C] rs2872243 1 228045508 [A/G] exm2260027 1 228057761 [A/G] rs10916232 1 228058967 [A/G] rs10799454 1 228079192 [T/C] rs4653883 1 228087561 [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 rs592736 1 228116831 [T/C] NM_003395 WNT9A Silent rs7529664 1 228122132 [T/C] NM_003395 WNT9A Silent exm2264961 1 228126470 [A/G] NM_003395 WNT9A Silent rs6665129 1 228140460 [A/G] rs849898 1 228153917 [A/G] rs6426488 1 228174528 [T/C] rs964941 1 228193857 [A/G] exm154833 1 228210573 [A/G] NM_033131 WNT3A EXON Missense_D93N rs708122 1 228216997 [A/C] NM_033131 WNT3A Silent rs10916258 1 228219882 [A/C] NM_033131 WNT3A Silent rs3121309 1 228223036 [A/G] NM_033131 WNT3A Silent rs7539664 1 228227477 [A/C] NM_033131 WNT3A Silent exm154839 1 228238443 [A/G] NM_033131 WNT3A EXON Missense_A134T rs1188976 1 228261901 [A/G] 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_181465,NM_181456,NM_181454,NM_181463,NM_181462,NM_181464,NM_181455,NM_181441 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_181465,NM_181456,NM_181454,NM_181463,NM_181462,NM_181464,NM_181455,NM_181441 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_181465,NM_181456,NM_181454,NM_181463,NM_181462,NM_181464,NM_181455,NM_181441 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_181465,NM_181456,NM_181454,NM_181463,NM_181462,NM_181464,NM_181455,NM_181441 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_181465,NM_181456,NM_181454,NM_181463,NM_181462,NM_181464,NM_181455,NM_181441 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_181465,NM_181456,NM_181454,NM_181463,NM_181462,NM_181464,NM_181455,NM_181441 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 EXON Silent,Silent,Silent,Silent,Missense_G39S,Silent,Silent,Silent exm154986 1 228295961 [T/G] NM_181465,NM_181456,NM_181454,NM_181463,NM_181462,NM_181464,NM_181455,NM_181441 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 variant.10429 1 228296020 [A/C] NM_181465,NM_181456,NM_181454,NM_181463,NM_181462,NM_181464,NM_181455,NM_181441 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs849749 1 228296745 [T/C] NM_181465,NM_181456,NM_181454,NM_181463,NM_181462,NM_181464,NM_181455,NM_181441 MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55,MRPL55 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1620734 1 228297613 [A/G] rs10916266 1 228303048 [A/C] rs6686210 1 228322507 [A/G] rs2313602 1 228331040 [A/C] NM_001242839,NM_001159390,NM_001242840,NM_000858 GUK1,GUK1,GUK1,GUK1 Silent,Silent,Silent,Silent 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 rs12134624 1 228350774 [T/C] 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 rs12084338 1 228377913 [A/G] rs12142165 1 228383202 [T/C] exm155198 1 228399551 [A/G] NR_073155,NR_073154,NM_001271223,NM_001098623,NM_052843 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_001098623,NM_052843 C1orf145,C1orf145,OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_D63N,Missense_D63N,Missense_D63N exm155255 1 228401352 [T/C] NR_073155,NR_073154,NM_001271223,NM_001098623,NM_052843 C1orf145,C1orf145,OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_A400V,Missense_A400V,Missense_A400V exm155256 1 228401940 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V442L,Missense_V442L,Missense_V442L rs1771487 1 228402121 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_Q502R,Missense_Q502R,Missense_Q502R exm155263 1 228402121 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_Q502R,Missense_Q502R,Missense_Q502R exm155288 1 228403429 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R665Q,Missense_R665Q,Missense_R665Q exm155295 1 228403476 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_Q681E,Missense_Q681E,Missense_Q681E exm155307 1 228404292 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A756T,Missense_A756T,Missense_A756T exm155310 1 228404305 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R760Q,Missense_R760Q,Missense_R760Q exm155315 1 228404368 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R781H,Missense_R781H,Missense_R781H exm155317 1 228404377 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R784H,Missense_R784H,Missense_R784H exm155319 1 228404401 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_Q792R,Missense_Q792R,Missense_Q792R exm155331 1 228404818 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V828L,Missense_V828L,Missense_V828L exm155332 1 228404864 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R843H,Missense_R843H,Missense_R843H rs10157526 1 228406717 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent exm155344 1 228412195 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R989C,Missense_R897C,Missense_R897C rs1757152 1 228412308 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Synonymous_S1026S,Synonymous_S934S,Synonymous_S934S exm155365 1 228412415 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_S1062F,Missense_S970F,Missense_S970F rs6701173 1 228428805 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent exm155382 1 228431063 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R1129W,Missense_R1037W,Missense_R1037W exm155389 1 228432047 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A1178S,Missense_A1086S,Missense_A1086S exm155402 1 228432227 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_C1238R,Missense_C1146R,Missense_C1146R exm2232675 1 228432239 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G1242S,Missense_G1150S,Missense_G1150S exm155405 1 228432264 [T/A] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_H1250L,Missense_H1158L,Missense_H1158L exm155409 1 228433171 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A1272V,Missense_A1180V,Missense_A1180V exm155417 1 228433353 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G1333R,Missense_G1241R,Missense_G1241R rs1888681 1 228433491 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent exm155423 1 228434276 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R1361W,Missense_R1269W,Missense_R1269W exm155424 1 228434277 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R1361Q,Missense_R1269Q,Missense_R1269Q exm155439 1 228434472 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G1426D,Missense_G1334D,Missense_G1334D exm155442 1 228437667 [C/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E1437D,Missense_E1345D,Missense_E1345D exm155447 1 228437717 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A1454V,Missense_A1362V,Missense_A1362V exm155467 1 228444472 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_K1569R,Missense_K1477R,Missense_K1477R exm155481 1 228444600 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R1612W,Missense_R1520W,Missense_R1520W exm155538 1 228461504 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2099H,Missense_R1724H,Missense_R1724H exm155539 1 228461527 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E2107Q,Missense_E1732Q,Missense_E1732Q exm155545 1 228461611 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2135C,Missense_R1760C,Missense_R1760C exm155546 1 228461615 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2136H,Missense_R1761H,Missense_R1761H exm155555 1 228461900 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2188Q,Missense_R1813Q,Missense_R1813Q exm155556 1 228461936 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T2200M,Missense_T1825M,Missense_T1825M exm155562 1 228461999 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T2221M,Missense_T1846M,Missense_T1846M exm155563 1 228462007 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2224W,Missense_R1849W,Missense_R1849W exm155581 1 228462332 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E2290K,Missense_E1915K,Missense_E1915K exm155586 1 228462440 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A2326P,Missense_A1951P,Missense_A1951P exm155590 1 228462495 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T2344I,Missense_T1969I,Missense_T1969I exm155594 1 228462539 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Nonsense_R2359X,Nonsense_R1984X,Nonsense_R1984X exm155609 1 228463680 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G2433V,Missense_G2058V,Missense_G2058V exm155617 1 228464248 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_D2481E,Missense_D2106E,Missense_D2106E rs1188721 1 228464248 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_D2481E,Missense_D2106E,Missense_D2106E exm155618 1 228464255 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_W2484R,Missense_W2109R,Missense_W2109R exm155619 1 228464267 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G2488C,Missense_G2113C,Missense_G2113C exm155624 1 228464303 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A2500S,Missense_A2125S,Missense_A2125S exm155626 1 228464316 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P2504R,Missense_P2129R,Missense_P2129R exm155651 1 228465000 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_S2622F,Missense_S2247F,Missense_S2247F exm155656 1 228465516 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_F2701L,Missense_F2272L,Missense_F2272L variant.10478 1 228465538 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Nonsense_R2709X,Nonsense_R2280X,Nonsense_R2280X exm155658 1 228465550 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Nonsense_R2713X,Nonsense_R2284X,Nonsense_R2284X exm155659 1 228466407 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V2722L,Missense_V2293L,Missense_V2293L exm155675 1 228466977 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P2839S,Missense_P2410S,Missense_P2410S exm155680 1 228467064 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2868W,Missense_R2439W,Missense_R2439W exm155685 1 228467079 [T/A] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T2873S,Missense_T2444S,Missense_T2444S exm155687 1 228467095 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V2878A,Missense_V2449A,Missense_V2449A exm155689 1 228467106 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V2882I,Missense_V2453I,Missense_V2453I exm155692 1 228467130 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2890C,Missense_R2461C,Missense_R2461C exm155694 1 228467543 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2902Q,Missense_R2473Q,Missense_R2473Q exm155699 1 228467642 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T2935M,Missense_T2506M,Missense_T2506M exm155706 1 228467711 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R2958Q,Missense_R2529Q,Missense_R2529Q exm155711 1 228467881 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Synonymous_A2984A,Synonymous_A2555A,Synonymous_A2555A exm155718 1 228467969 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_D3014H,Missense_D2585H,Missense_D2585H exm155720 1 228467994 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_N3022S,Missense_N2593S,Missense_N2593S exm155722 1 228468069 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_S3047N,Missense_S2618N,Missense_S2618N exm155737 1 228468437 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A3142T,Missense_A2713T,Missense_A2713T exm155739 1 228468458 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V3149M,Missense_V2720M,Missense_V2720M exm155754 1 228469801 [C/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G3218R,Missense_G2789R,Missense_G2789R exm155756 1 228469825 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3226W,Missense_R2797W,Missense_R2797W exm155757 1 228469826 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3226Q,Missense_R2797Q,Missense_R2797Q exm155759 1 228469861 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_F3238V,Missense_F2809V,Missense_F2809V exm155760 1 228469870 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3241W,Missense_R2812W,Missense_R2812W exm155761 1 228469873 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G3242R,Missense_G2813R,Missense_G2813R exm155765 1 228469904 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3252I,Missense_R2823I,Missense_R2823I exm155769 1 228470764 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A3268V,Missense_A2839V,Missense_A2839V exm155772 1 228470803 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3281Q,Missense_R2852Q,Missense_R2852Q exm155774 1 228470847 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3296C,Missense_R2867C,Missense_R2867C exm155786 1 228471293 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A3372T,Missense_A2943T,Missense_A2943T exm155788 1 228471312 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3378H,Missense_R2949H,Missense_R2949H exm2250836 1 228471379 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Synonymous_R3400R,Synonymous_R2971R,Synonymous_R2971R exm155803 1 228473854 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3456Q,Missense_R3027Q,Missense_R3027Q exm155815 1 228473959 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V3491G,Missense_V3062G,Missense_V3062G exm2250837 1 228474547 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Synonymous_C3546C,Synonymous_C3117C,Synonymous_C3117C exm155825 1 228474548 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E3547K,Missense_E3118K,Missense_E3118K exm155828 1 228474567 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_I3553T,Missense_I3124T,Missense_I3124T rs4653935 1 228474817 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent exm155843 1 228475581 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R3673Q,Missense_R3244Q,Missense_R3244Q exm155846 1 228475604 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G3681R,Missense_G3252R,Missense_G3252R exm155853 1 228475819 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T3719M,Missense_T3290M,Missense_T3290M exm155861 1 228475954 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A3764V,Missense_A3335V,Missense_A3335V exm155867 1 228476025 [A/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P3788T,Missense_P3359T,Missense_P3359T exm155869 1 228476366 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E3801D,Missense_E3372D,Missense_E3372D exm155871 1 228476389 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T3809M,Missense_T3380M,Missense_T3380M exm155904 1 228480317 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P3995L,Missense_P3566L,Missense_P3566L exm155905 1 228480319 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V3996L,Missense_V3567L,Missense_V3567L exm155915 1 228481067 [C/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_K4056N,Missense_K3627N,Missense_K3627N exm2232686 1 228481084 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R4062K,Missense_R3633K,Missense_R3633K exm155925 1 228481257 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A4120T,Missense_A3691T,Missense_A3691T exm155930 1 228481314 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R4139G,Missense_R3710G,Missense_R3710G exm155931 1 228481854 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Synonymous_A4140A,Synonymous_A3711A,Synonymous_A3711A exm155934 1 228481897 [A/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T4155P,Missense_T3726P,Missense_T3726P exm155960 1 228482738 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V4314I,Missense_V3885I,Missense_V3885I rs6693018 1 228487853 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent indel.10499 1 228491612 [D/I] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON rs1150910 1 228492044 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Synonymous_E4681E,Silent,Silent variant.10505 1 228492268 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent variant.10506 1 228492272 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent exm156004 1 228494144 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_C4868G,Missense_C3911G,Missense_C3911G exm156009 1 228494216 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R4892W,Missense_R3935W,Missense_R3935W exm156011 1 228494243 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A4901T,Missense_A3944T,Missense_A3944T exm156022 1 228494790 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G4996R,Missense_G4039R,Missense_G4039R exm156026 1 228494830 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T5009M,Missense_T4052M,Missense_T4052M exm2232689 1 228494856 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_L5018F,Missense_L4061F,Missense_L4061F exm156038 1 228495112 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E5073K,Missense_E4116K,Missense_E4116K exm156045 1 228495226 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V5111F,Missense_V4154F,Missense_V4154F exm156046 1 228495821 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V5116G,Missense_V4159G,Missense_V4159G exm156047 1 228495832 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5120W,Missense_R4163W,Missense_R4163W exm156057 1 228495983 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5170H,Missense_R4213H,Missense_R4213H exm156064 1 228496066 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A5198S,Missense_A4241S,Missense_A4241S exm156069 1 228496905 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5239H,Missense_R4282H,Missense_R4282H exm156072 1 228497189 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T5271I,Missense_T4314I,Missense_T4314I exm156076 1 228503566 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5301Q,Missense_R4344Q,Missense_R4344Q exm156078 1 228503579 [A/T] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_N5305K,Missense_N4348K,Missense_N4348K exm156080 1 228503592 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E5310K,Missense_E4353K,Missense_E4353K exm156087 1 228503679 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T5339A,Missense_T4382A,Missense_T4382A exm156090 1 228503686 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E5341G,Missense_E4384G,Missense_E4384G exm156096 1 228504472 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_C5407R,Missense_C4450R,Missense_C4450R exm156104 1 228504574 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A5441T,Missense_A4484T,Missense_A4484T exm156106 1 228504577 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_D5442N,Missense_D4485N,Missense_D4485N exm156107 1 228504586 [C/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_H5445D,Missense_H4488D,Missense_H4488D exm156108 1 228504591 [A/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_H5446Q,Missense_H4489Q,Missense_H4489Q rs4653942 1 228505204 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5491H,Missense_R4534H,Missense_R4534H exm156120 1 228505204 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5491H,Missense_R4534H,Missense_R4534H exm156124 1 228505257 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G5509S,Missense_G4552S,Missense_G4552S exm156126 1 228505275 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5515C,Missense_R4558C,Missense_R4558C exm156127 1 228505276 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5515H,Missense_R4558H,Missense_R4558H exm156132 1 228505378 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_Y5549C,Missense_Y4592C,Missense_Y4592C exm156141 1 228505668 [C/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_S5599C,Missense_S4642C,Missense_S4642C exm156143 1 228505725 [A/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_E5618A,Missense_E4661A,Missense_E4661A exm156144 1 228505727 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5619C,Missense_R4662C,Missense_R4662C exm156146 1 228505739 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G5623S,Missense_G4666S,Missense_G4666S exm156153 1 228506687 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5702Q,Missense_R4745Q,Missense_R4745Q exm156158 1 228506756 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_S5725L,Missense_S4768L,Missense_S4768L exm156159 1 228506761 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5727C,Missense_R4770C,Missense_R4770C exm156161 1 228506768 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P5729L,Missense_P4772L,Missense_P4772L exm156167 1 228506912 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_L5777P,Missense_L4820P,Missense_L4820P exm156168 1 228509093 [A/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P5808T,Missense_P4851T,Missense_P4851T exm156170 1 228509109 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5813H,Missense_R4856H,Missense_R4856H exm156184 1 228509331 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5887H,Missense_R4930H,Missense_R4930H exm156190 1 228509430 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5920H,Missense_R4963H,Missense_R4963H exm156191 1 228509475 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G5935D,Missense_G4978D,Missense_G4978D exm156194 1 228509555 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_D5962N,Missense_D5005N,Missense_D5005N exm156196 1 228509579 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5970W,Missense_R5013W,Missense_R5013W exm156198 1 228509588 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5973W,Missense_R5016W,Missense_R5016W exm156200 1 228509598 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R5976H,Missense_R5019H,Missense_R5019H exm156201 1 228509610 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P5980L,Missense_P5023L,Missense_P5023L exm156205 1 228509681 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_D6004Y,Missense_D5047Y,Missense_D5047Y exm156210 1 228509733 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A6021V,Missense_A5064V,Missense_A5064V exm156215 1 228509861 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P6064S,Missense_P5107S,Missense_P5107S exm156219 1 228511029 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A6082V,Missense_A5125V,Missense_A5125V exm156236 1 228520597 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T6187M,Missense_T5230M,Missense_T5230M rs369909 1 228520973 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_L6226V,Missense_L5269V,Missense_L5269V exm156242 1 228520995 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R6233H,Missense_R5276H,Missense_R5276H exm156255 1 228522537 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P6327L,Missense_P5370L,Missense_P5370L exm156267 1 228522931 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T6403I,Missense_T5446I,Missense_T5446I exm156270 1 228523528 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A6438V,Missense_A5481V,Missense_A5481V exm156273 1 228523957 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_G6465V,Missense_G5508V,Missense_G5508V exm156277 1 228524756 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V6487A,Missense_V5530A,Missense_V5530A exm156282 1 228525008 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R6532H,Missense_R5575H,Missense_R5575H exm156297 1 228525823 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A6617V,Missense_A5660V,Missense_A5660V exm156303 1 228526067 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R6650M,Missense_R5693M,Missense_R5693M exm156306 1 228526578 [T/A] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_S6660R,Missense_S5703R,Missense_S5703R exm156310 1 228526619 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_S6674N,Missense_S5717N,Missense_S5717N exm156313 1 228526653 [A/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_H6685Q,Missense_H5728Q,Missense_H5728Q exm156320 1 228527675 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_T6720M,Missense_T5763M,Missense_T5763M exm156323 1 228527749 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R6745C,Missense_R5788C,Missense_R5788C exm156325 1 228527758 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A6748P,Missense_A5791P,Missense_A5791P exm156343 1 228528530 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_V6837M,Missense_V5880M,Missense_V5880M exm156344 1 228528549 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_Y6843C,Missense_Y5886C,Missense_Y5886C exm156346 1 228528563 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_Q6848E,Missense_Q5891E,Missense_Q5891E exm2250839 1 228528804 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Synonymous_F6859F,Synonymous_F5902F,Synonymous_F5902F rs417237 1 228532195 [T/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent exm156390 1 228538568 [C/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_R7072G,Missense_R6115G,Missense_R6115G exm156392 1 228538598 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_A7082T,Missense_A6125T,Missense_A6125T exm156393 1 228538635 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_P7094L,Missense_P6137L,Missense_P6137L rs3795811 1 228538968 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent exm156398 1 228539044 [G/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Missense_L7105V,Missense_L6148V,Missense_L6148V indel.10527 1 228543874 [D/I] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON indel.10528 1 228543923 [I/D] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN rs4653946 1 228546242 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN Silent,Silent,Silent exm2232698 1 228547773 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_V6394I exm156428 1 228547827 [C/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_A6412P exm2250840 1 228547901 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Silent,Silent,Synonymous_D6436D exm156446 1 228548112 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_P6507S exm156447 1 228548116 [A/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_T6508K exm156457 1 228548197 [A/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_R6535H exm156461 1 228548255 [C/G] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_L6554F exm2232699 1 228548256 [T/C] NM_001271223,NM_001098623,NM_052843 OBSCN,OBSCN,OBSCN EXON Silent,Silent,Missense_R6555W 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 rs3738685 1 228556788 [T/C] NM_001271223,NM_001098623 OBSCN,OBSCN Silent,Silent 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 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 rs564309 1 228585562 [A/C] NM_145214 TRIM11 Silent 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 rs10916309 1 228614224 [A/G] rs12131962 1 228631641 [A/G] exm157086 1 228645859 [T/C] NM_175055 HIST3H2BB EXON Missense_A10V rs6426503 1 228651011 [T/C] exm2250844 1 228660501 [A/C] rs3795816 1 228681195 [T/C] NM_001010858 RNF187 Silent rs3795817 1 228681749 [T/C] NM_001010858 RNF187 EXON Silent rs12136157 1 228703236 [T/C] rs1925714 1 228703289 [A/G] rs16848741 1 228705494 [T/G] rs1925716 1 228707539 [T/C] kgp15623341 1 228707678 [T/C] rs11588356 1 228715780 [A/G] rs6672815 1 228784907 [T/C] NR_037962,NR_002834 RHOU,DUSP5P1 Silent,Silent rs765070 1 228805855 [T/C] NR_037962 RHOU Silent rs6692721 1 228818506 [A/G] NR_037962 RHOU Silent rs7526487 1 228824972 [A/C] NR_037962 RHOU Silent rs2180162 1 228866987 [A/G] NR_037962 RHOU Silent rs2295256 1 228874049 [T/C] NR_037962,NM_021205 RHOU,RHOU Silent,Silent rs4531263 1 228878522 [T/C] NR_037962,NM_021205 RHOU,RHOU Silent,Silent 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 rs11580020 1 228880466 [A/G] NR_037962,NM_021205 RHOU,RHOU EXON Silent,Silent rs4440831 1 228887522 [A/G] rs6676800 1 228891103 [T/C] rs11585991 1 228904822 [T/C] rs7518686 1 228907642 [T/C] rs6703541 1 228909127 [T/C] rs241324 1 228916634 [A/G] rs241305 1 228937821 [T/C] rs241301 1 228962427 [T/C] rs2639757 1 228968184 [T/C] rs801109 1 228989201 [T/C] rs714349 1 228995219 [T/C] exm-rs801112 1 228996622 [T/C] exm-rs801114 1 228997835 [T/G] rs801116 1 229005123 [A/G] rs241359 1 229005833 [A/G] rs1089255 1 229008266 [T/C] rs1389136 1 229018195 [T/C] rs1341715 1 229018916 [A/G] rs11585386 1 229019148 [T/C] rs6426525 1 229027438 [T/C] rs1493081 1 229030528 [T/G] rs7551503 1 229038351 [T/C] rs6426527 1 229049984 [T/G] rs1891203 1 229060567 [T/G] rs1389139 1 229065083 [A/G] rs778374 1 229091091 [T/C] rs991304 1 229091234 [A/G] rs778373 1 229091575 [T/G] rs496663 1 229098232 [T/C] rs519791 1 229100829 [T/C] rs609384 1 229112170 [T/C] rs609447 1 229112223 [T/C] rs778536 1 229114638 [A/G] rs10916399 1 229118735 [A/G] rs778532 1 229128091 [T/C] rs755482 1 229140452 [A/C] rs595950 1 229145883 [A/G] rs537250 1 229159643 [A/G] rs1870362 1 229173352 [A/G] rs666453 1 229181697 [T/C] rs7538164 1 229182292 [A/G] rs505557 1 229189441 [A/G] rs652014 1 229200392 [A/C] rs4654717 1 229203703 [A/C] rs12137005 1 229216656 [T/C] rs12089229 1 229229775 [T/C] rs619422 1 229231141 [A/C] rs4078437 1 229258917 [T/C] rs9283408 1 229260643 [A/C] rs3923210 1 229277059 [A/G] rs9287022 1 229278349 [A/C] rs12064154 1 229282076 [T/C] rs11580448 1 229282778 [A/G] rs9660543 1 229282932 [T/C] rs9701452 1 229290907 [T/G] rs9435847 1 229293357 [A/G] rs342826 1 229300574 [T/C] rs342824 1 229301909 [T/C] rs6693489 1 229302836 [A/G] rs519253 1 229303363 [A/G] rs449616 1 229307013 [A/C] rs424699 1 229307113 [T/C] rs9435807 1 229308283 [T/G] rs12026629 1 229316554 [T/C] rs9435856 1 229331680 [A/C] rs12023401 1 229334294 [A/G] rs4925498 1 229334731 [T/C] rs8179432 1 229336116 [A/C] rs12090880 1 229337915 [A/G] rs342833 1 229350560 [A/G] rs342834 1 229351259 [T/C] exm2250846 1 229355000 [T/C] rs501082 1 229360981 [A/C] rs342818 1 229367115 [T/C] rs440392 1 229376357 [A/C] rs9435865 1 229377014 [T/C] rs2036775 1 229377038 [A/G] rs6695100 1 229385256 [A/G] rs10799523 1 229416068 [A/G] NR_073545,NM_001271998,NM_004578 RAB4A,RAB4A,RAB4A Silent,Silent,Silent rs9660826 1 229424118 [T/C] NR_073545,NM_001271998,NM_004578 RAB4A,RAB4A,RAB4A Silent,Silent,Silent exm157169 1 229424535 [T/G] NR_073545,NM_001271998,NM_004578 RAB4A,RAB4A,RAB4A EXON Silent,Silent,Missense_G58C exm1766611 1 229431647 [A/G] NR_073545,NM_001271998,NM_004578 RAB4A,RAB4A,RAB4A EXON Silent,Missense_M1I,Missense_D94N variant.10587 1 229433230 [T/C] NR_073545,NM_001271998,NM_004578 RAB4A,RAB4A,RAB4A EXON Silent,Silent,Nonsense_R98X exm157182 1 229438621 [T/C] NR_073545,NM_001271998,NM_004578 RAB4A,RAB4A,RAB4A EXON Silent,Missense_P80L,Missense_P185L exm157183 1 229438654 [A/G] NR_073545,NM_001271998,NM_004578 RAB4A,RAB4A,RAB4A EXON Silent,Missense_D91G,Missense_D196G exm157189 1 229440900 [T/C] NR_073545,NM_001271998,NM_004578,NM_006542 RAB4A,RAB4A,RAB4A,SPHAR EXON Silent,Silent,Silent,Missense_S7P exm157191 1 229441002 [T/C] NR_073545,NM_001271998,NM_004578,NM_006542 RAB4A,RAB4A,RAB4A,SPHAR EXON Silent,Silent,Silent,Missense_L41F rs1088 1 229458456 [A/G] NM_145257 CCSAP EXON Silent rs237802 1 229461801 [T/G] NM_145257 CCSAP Silent 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 rs237807 1 229464621 [A/G] NM_145257 CCSAP Silent rs237784 1 229471199 [T/C] NM_145257 CCSAP Silent rs238102 1 229483148 [A/C] rs238099 1 229508905 [T/C] rs7549589 1 229519927 [A/C] rs867325 1 229545085 [A/C] rs728614 1 229564117 [T/C] rs499689 1 229565732 [A/G] indel.10591 1 229568418 [I/D] NM_001100 ACTA1 EXON rs506388 1 229571061 [T/G] rs10753458 1 229575709 [A/C] exm157251 1 229577717 [A/C] NM_018230 NUP133 EXON Missense_K1135N rs4338396 1 229580221 [A/G] NM_018230 NUP133 Silent 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 rs11809516 1 229591667 [T/C] NM_018230 NUP133 Silent exm157274 1 229594003 [T/C] NM_018230 NUP133 EXON Missense_R962H exm157280 1 229596453 [A/G] NM_018230 NUP133 EXON Nonsense_Q917X newrs145595619 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 variant.10593 1 229601162 [A/G] NM_018230 NUP133 Silent exm2273753 1 229601256 [T/C] NM_018230 NUP133 EXON Missense_Q737R exm157305 1 229602488 [T/C] NM_018230 NUP133 EXON Missense_T698A var_1_229606322 1 229606322 [A/C] NM_018230 NUP133 Silent exm157318 1 229613399 [T/G] NM_018230 NUP133 EXON Missense_D567E rs568916 1 229619516 [T/C] NM_018230 NUP133 Silent 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 rs10916495 1 229635521 [A/G] NM_018230 NUP133 EXON Synonymous_Y186Y exm2232717 1 229635559 [A/C] NM_018230 NUP133 EXON Missense_A174S exm157366 1 229636561 [T/C] NM_018230 NUP133 EXON Missense_S152N variant.10597 1 229641892 [A/G] NM_018230 NUP133 EXON Nonsense_R66X rs6671385 1 229642652 [T/C] NM_018230 NUP133 Silent exm157373 1 229643815 [T/C] NM_018230 NUP133 EXON Missense_R61Q exm157383 1 229654053 [T/C] NM_012089 ABCB10 EXON Missense_N697S rs10799533 1 229656562 [T/C] NM_012089 ABCB10 Silent exm1766825 1 229663026 [A/G] NM_012089 ABCB10 EXON Missense_R559C indel.10601 1 229663035 [D/I] NM_012089 ABCB10 EXON 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 variant.10604 1 229678040 [A/G] NM_012089 ABCB10 EXON Nonsense_R334X rs3738187 1 229683264 [A/G] NM_012089 ABCB10 EXON Synonymous_S301S variant.10605 1 229684976 [A/G] NM_012089 ABCB10 Silent rs6701445 1 229724800 [T/C] 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 rs2273573 1 229746019 [T/C] NM_014409,NM_001025247 TAF5L,TAF5L Silent,Silent exm157539 1 229750089 [T/C] NM_014409,NM_001025247 TAF5L,TAF5L EXON Synonymous_T47T,Synonymous_T47T rs2273574 1 229750343 [T/G] NM_014409,NM_001025247 TAF5L,TAF5L Silent,Silent variant.10607 1 229763366 [A/G] NM_014777 URB2 Silent variant.10609 1 229770913 [T/C] NM_014777 URB2 EXON Nonsense_Q185X 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 variant.10611 1 229771305 [A/C] NM_014777 URB2 EXON Nonsense_Y315X variant.10612 1 229771321 [T/C] NM_014777 URB2 EXON Nonsense_Q321X 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 indel.10614 1 229771925 [I/D] NM_014777 URB2 EXON 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 indel.10617 1 229772616 [I/D] NM_014777 URB2 EXON 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 rs3811474 1 229772932 [A/G] NM_014777 URB2 EXON Missense_K858E exm157648 1 229772932 [A/G] NM_014777 URB2 EXON Missense_K858E indel.10618 1 229773094 [D/I] NM_014777 URB2 EXON exm157651 1 229773098 [A/G] NM_014777 URB2 EXON Missense_Y913C indel.10619 1 229773173 [I/D] NM_014777 URB2 EXON 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 var_1_229779387 1 229779387 [T/C] NM_014777 URB2 EXON Nonsense_Q1248X exm157701 1 229783267 [T/G] NM_014777 URB2 EXON Missense_R1306L exm157703 1 229783308 [A/G] NM_014777 URB2 EXON Missense_G1320R rs6696449 1 229785425 [T/C] NM_014777 URB2 Silent 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 rs6686112 1 229793082 [T/C] NM_014777 URB2 Silent exm157738 1 229794937 [T/C] NM_014777 URB2 EXON Missense_R1490W exm157740 1 229794944 [T/C] NM_014777 URB2 EXON Missense_S1492L rs3820361 1 229795330 [T/C] NM_014777 URB2 EXON Silent rs12745210 1 229822279 [T/C] rs4562666 1 229824770 [T/C] rs7525615 1 229835413 [T/C] rs7535031 1 229841139 [T/C] rs1889192 1 229850656 [T/C] rs1930903 1 229861486 [A/G] rs12742436 1 229863007 [A/G] rs1931330 1 229887926 [T/G] rs670054 1 229888337 [A/C] rs485056 1 229905386 [T/G] rs643009 1 229910737 [A/G] rs7530268 1 229917851 [A/G] rs16850261 1 229927222 [T/C] rs583645 1 229927798 [T/C] rs657297 1 229939169 [A/G] exm-rs603991 1 229956480 [T/C] rs662363 1 229958921 [T/C] rs687266 1 229974348 [A/G] rs6587358 1 229984347 [A/G] rs7548102 1 229988711 [T/G] rs6687252 1 229993997 [T/C] rs10495282 1 229996754 [T/C] rs16850516 1 230019022 [T/C] rs16850542 1 230029167 [T/C] rs4925523 1 230056781 [A/C] rs7526242 1 230074815 [T/C] rs7532759 1 230076940 [T/C] rs11588095 1 230088714 [T/G] rs16841453 1 230095259 [T/G] rs9432181 1 230138554 [T/C] rs12042904 1 230143970 [T/C] rs16850743 1 230148080 [A/G] rs4295887 1 230152083 [A/G] rs10735526 1 230158734 [T/C] rs6663181 1 230187526 [T/G] rs3009715 1 230195713 [T/C] exm2268980 1 230199398 [T/C] rs1474926 1 230207406 [A/C] NM_004481 GALNT2 Silent rs7523343 1 230230759 [A/G] NM_004481 GALNT2 Silent rs12035297 1 230238821 [T/C] NM_004481 GALNT2 Silent rs754666 1 230250182 [T/C] NM_004481 GALNT2 Silent rs4846833 1 230251823 [A/G] NM_004481 GALNT2 Silent rs11122361 1 230263959 [A/G] NM_004481 GALNT2 Silent rs1884578 1 230267209 [T/C] NM_004481 GALNT2 Silent rs1973943 1 230272063 [T/C] NM_004481 GALNT2 Silent rs4846904 1 230279410 [A/G] NM_004481 GALNT2 Silent rs4846908 1 230285056 [A/G] NM_004481 GALNT2 Silent rs2352723 1 230291868 [T/C] NM_004481 GALNT2 Silent exm-rs2144300 1 230294916 [T/C] NM_004481 GALNT2 Silent exm-rs4846914 1 230295691 [A/G] NM_004481 GALNT2 Silent rs2296065 1 230301776 [A/G] NM_004481 GALNT2 Silent rs10489615 1 230304988 [A/G] NM_004481 GALNT2 Silent exm-rs10489615 1 230304988 [A/G] NM_004481 GALNT2 Silent rs4846922 1 230307182 [T/C] NM_004481 GALNT2 Silent rs678050 1 230313911 [T/C] NM_004481 GALNT2 Silent exm157750 1 230314016 [A/G] NM_004481 GALNT2 EXON Missense_N60S rs611229 1 230324067 [T/G] NM_004481 GALNT2 Silent exm157752 1 230338909 [G/C] NM_004481 GALNT2 EXON Missense_Q83E rs4846928 1 230341905 [T/C] NM_004481 GALNT2 Silent rs6703306 1 230351829 [A/G] NM_004481 GALNT2 Silent 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 rs3748006 1 230384937 [T/C] NM_004481 GALNT2 EXON Synonymous_D275D rs3789629 1 230387283 [A/G] NM_004481 GALNT2 Silent rs4846943 1 230394298 [T/C] NM_004481 GALNT2 Silent rs3811485 1 230398445 [A/G] NM_004481 GALNT2 Silent indel.10625 1 230398752 [I/D] NM_004481 GALNT2 variant.10626 1 230398756 [A/G] NM_004481 GALNT2 Silent rs7552730 1 230400531 [A/G] NM_004481 GALNT2 Silent exm157807 1 230401006 [A/G] NM_004481 GALNT2 EXON Missense_I445V rs17761459 1 230409562 [A/C] NM_004481 GALNT2 Silent variant.10629 1 230410315 [A/G] NM_004481 GALNT2 Silent 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 rs2273967 1 230415293 [T/C] NM_004481 GALNT2 EXON Silent rs12757317 1 230419308 [T/C] rs6541309 1 230421503 [T/C] rs751645 1 230429143 [T/C] rs6666008 1 230430380 [A/G] rs4846854 1 230435991 [A/G] rs4414046 1 230438592 [A/G] rs9431827 1 230440257 [T/C] rs1565090 1 230443778 [A/G] rs901668 1 230445193 [A/G] rs12133061 1 230446556 [T/C] rs11122490 1 230447108 [T/C] rs12089782 1 230458324 [T/C] NM_001258311 PGBD5 EXON Silent exm157841 1 230459181 [A/G] NM_001258311 PGBD5 EXON Missense_P522L exm2232730 1 230459307 [T/C] NM_001258311 PGBD5 EXON Missense_S480N rs1565091 1 230459926 [T/C] NM_001258311 PGBD5 Silent exm2250857 1 230469505 [A/G] NM_001258311 PGBD5 Silent rs10864745 1 230474898 [A/G] NM_001258311 PGBD5 Silent rs4489565 1 230478756 [A/G] NM_001258311 PGBD5 Silent rs16851544 1 230489206 [T/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 rs1108707 1 230496808 [T/C] NM_001258311 PGBD5 Silent variant.10633 1 230503862 [T/C] NM_001258311 PGBD5 Silent rs2795050 1 230504875 [T/G] NM_001258311 PGBD5 Silent rs828453 1 230508313 [A/C] NM_001258311 PGBD5 Silent rs901669 1 230510977 [T/C] NM_001258311 PGBD5 Silent rs7544508 1 230512784 [T/C] NM_001258311 PGBD5 Silent exm157930 1 230513322 [T/C] NM_001258311 PGBD5 Silent exm157936 1 230513337 [T/C] NM_001258311 PGBD5 Silent rs701170 1 230517993 [A/C] NM_001258311 PGBD5 Silent rs11806158 1 230521031 [A/C] NM_001258311 PGBD5 Silent rs6656262 1 230546627 [T/C] NM_001258311 PGBD5 Silent rs12031576 1 230563455 [T/C] rs11586533 1 230594749 [A/G] rs1418131 1 230604127 [T/C] rs200162 1 230614110 [T/C] rs12024407 1 230621314 [T/C] rs853021 1 230622001 [T/C] rs853022 1 230622709 [T/C] rs12064727 1 230624383 [A/G] rs7555103 1 230648705 [T/C] rs6661407 1 230654589 [A/C] exm-rs6671466 1 230656763 [T/G] rs853431 1 230668260 [A/G] rs853434 1 230673182 [T/G] rs701157 1 230674826 [T/C] rs3849295 1 230676042 [A/C] rs12042923 1 230676674 [A/G] rs853442 1 230681731 [A/C] rs853452 1 230687711 [T/C] rs1327696 1 230701565 [A/G] rs11804015 1 230704291 [T/C] rs3761946 1 230706868 [T/C] rs3888630 1 230710689 [A/G] rs11122545 1 230713942 [A/G] rs1637941 1 230715075 [T/C] rs11122548 1 230725969 [A/G] rs200587 1 230728901 [T/G] rs11122552 1 230735580 [T/G] rs853463 1 230745894 [T/C] rs16852085 1 230747290 [T/C] rs714214 1 230758605 [A/G] rs12029075 1 230762648 [A/G] rs12031571 1 230766155 [A/C] rs4846997 1 230768037 [T/C] rs11122562 1 230771642 [T/C] rs4846999 1 230778879 [A/G] NM_001145036,NM_007357 COG2,COG2 Silent,Silent rs1887490 1 230779994 [A/G] NM_001145036,NM_007357 COG2,COG2 Silent,Silent rs3827743 1 230780571 [A/G] NM_001145036,NM_007357 COG2,COG2 Silent,Silent rs4847000 1 230781741 [A/G] NM_001145036,NM_007357 COG2,COG2 Silent,Silent exm2250860 1 230795320 [T/C] NM_001145036,NM_007357 COG2,COG2 EXON Synonymous_V61V,Synonymous_V61V exm157951 1 230795355 [A/G] NM_001145036,NM_007357 COG2,COG2 EXON Missense_N73S,Missense_N73S rs2296802 1 230798808 [A/G] NM_001145036,NM_007357 COG2,COG2 Silent,Silent exm157961 1 230798959 [A/G] NM_001145036,NM_007357 COG2,COG2 EXON Missense_K125E,Missense_K125E variant.10635 1 230798968 [T/G] NM_001145036,NM_007357 COG2,COG2 Silent,Silent exm157964 1 230800231 [T/C] NM_001145036,NM_007357 COG2,COG2 EXON Missense_M128T,Missense_M128T exm157966 1 230800250 [A/G] NM_001145036,NM_007357 COG2,COG2 EXON Missense_I134M,Missense_I134M exm157971 1 230800321 [T/A] NM_001145036,NM_007357 COG2,COG2 EXON Missense_L158Q,Missense_L158Q variant.10637 1 230800335 [T/G] NM_001145036,NM_007357 COG2,COG2 Silent,Silent variant.10638 1 230804535 [A/G] NM_001145036,NM_007357 COG2,COG2 Silent,Silent exm157988 1 230805279 [A/G] NM_001145036,NM_007357 COG2,COG2 EXON Missense_E258K,Missense_E258K rs16852189 1 230805786 [A/G] NM_001145036,NM_007357 COG2,COG2 Silent,Silent exm157992 1 230807296 [A/G] NM_001145036,NM_007357 COG2,COG2 EXON Missense_N270S,Missense_N270S exm1767202 1 230807353 [T/G] NM_001145036,NM_007357 COG2,COG2 EXON Missense_L289R,Missense_L289R rs10864766 1 230808005 [T/G] NM_001145036,NM_007357 COG2,COG2 Silent,Silent exm157996 1 230810756 [A/T] NM_001145036,NM_007357 COG2,COG2 EXON Missense_N304K,Missense_N304K exm158000 1 230814668 [A/G] NM_001145036,NM_007357 COG2,COG2 EXON Missense_I346V,Missense_I346V exm158001 1 230814698 [T/C] NM_001145036,NM_007357 COG2,COG2 EXON Missense_R356W,Missense_R356W rs3789647 1 230816269 [T/C] NM_001145036,NM_007357 COG2,COG2 Silent,Silent rs2479131 1 230818841 [T/G] NM_001145036,NM_007357 COG2,COG2 Silent,Silent exm158013 1 230822687 [T/C] NM_001145036,NM_007357 COG2,COG2 EXON Missense_L463F,Missense_L463F exm158018 1 230822828 [T/C] NM_001145036,NM_007357 COG2,COG2 EXON Missense_R510C,Missense_R510C exm158020 1 230822832 [G/C] NM_001145036,NM_007357 COG2,COG2 EXON Missense_T511S,Missense_T511S exm158033 1 230824279 [A/G] NM_001145036,NM_007357 COG2,COG2 EXON Missense_V588I,Missense_V589I exm158041 1 230827150 [A/G] NM_001145036,NM_007357 COG2,COG2 EXON Missense_D651G,Missense_D652G exm2232732 1 230827152 [A/G] NM_001145036,NM_007357 COG2,COG2 EXON Missense_V652I,Missense_V653I exm158044 1 230827221 [A/G] NM_001145036,NM_007357 COG2,COG2 EXON Missense_A675T,Missense_A676T exm158047 1 230827305 [A/G] NM_001145036,NM_007357 COG2,COG2 EXON Missense_E703K,Missense_E704K rs3789662 1 230828873 [A/G] NM_001145036,NM_007357 COG2,COG2 Silent,Silent 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 rs2478545 1 230844121 [A/G] NM_000029 AGT Silent rs6687360 1 230844992 [T/C] NM_000029 AGT Silent exm158095 1 230845755 [T/C] NM_000029 AGT EXON Missense_Y281C rs699 1 230845794 [A/G] NM_000029 AGT EXON Missense_M268T 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 variant.10648 1 230845872 [A/G] NM_000029 AGT EXON Missense_T242I 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 variant.10651 1 230846587 [A/G] NM_000029 AGT EXON Nonsense_R4X rs11122576 1 230846679 [T/C] NM_000029 AGT Silent rs2071404 1 230850940 [A/C] rs7549009 1 230855071 [A/G] rs7551720 1 230861589 [A/G] rs2478528 1 230863396 [T/C] rs2478520 1 230867197 [A/G] rs4259658 1 230872906 [T/C] rs2493151 1 230878561 [A/G] rs7540252 1 230882449 [T/C] rs3895368 1 230883073 [T/C] 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 rs6541330 1 230884363 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent rs1316408 1 230885713 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent rs1316409 1 230885776 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent rs2493153 1 230886191 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent 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 rs6698654 1 230893608 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent rs1890350 1 230894365 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent exm158162 1 230895257 [C/G] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent indel.10654 1 230895257 [D/I] NM_006615,NM_016452 CAPN9,CAPN9 newrs146559174 1 230895268 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Nonsense_W98X,Nonsense_W98X exm158168 1 230895284 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_A104T,Missense_A104T indel.10657 1 230895296 [I/D] NM_006615,NM_016452 CAPN9,CAPN9 EXON 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 rs3790958 1 230897724 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent 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 rs3790960 1 230898955 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent rs4847011 1 230900011 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent 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 rs872505 1 230904268 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent 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 rs4847017 1 230905723 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent rs6677009 1 230906954 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent 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 rs11122597 1 230913184 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent rs12724252 1 230914229 [T/C] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent 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 indel.10662 1 230916245 [D/I] NM_006615,NM_016452 CAPN9,CAPN9 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 rs7553239 1 230917513 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent 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 rs6661547 1 230925464 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent 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 indel.10666 1 230928634 [I/D] NM_006615,NM_016452 CAPN9,CAPN9 EXON exm158286 1 230928637 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 EXON Missense_M611I,Missense_M585I variant.10667 1 230928675 [A/G] NM_006615,NM_016452 CAPN9,CAPN9 Silent,Silent 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 rs10864783 1 230940170 [A/G] rs12410698 1 230947583 [A/G] rs1202526 1 230953248 [A/C] rs9970333 1 230954785 [T/C] rs16852740 1 230959250 [A/C] rs1202543 1 230966799 [A/G] exm158313 1 230979100 [T/C] NM_001136495,NM_001136494,NM_032800 C1orf198,C1orf198,C1orf198 EXON Synonymous_Q179Q,Synonymous_Q271Q,Synonymous_Q309Q exm158318 1 230979207 [A/C] NM_001136495,NM_001136494,NM_032800 C1orf198,C1orf198,C1orf198 EXON Missense_A144S,Missense_A236S,Missense_A274S exm158328 1 230979415 [A/C] NM_001136495,NM_001136494,NM_032800 C1orf198,C1orf198,C1orf198 EXON Missense_E74D,Missense_E166D,Missense_E204D exm158330 1 230979494 [A/G] NM_001136495,NM_001136494,NM_032800 C1orf198,C1orf198,C1orf198 EXON Missense_A48V,Missense_A140V,Missense_A178V exm158332 1 230979511 [A/C] NM_001136495,NM_001136494,NM_032800 C1orf198,C1orf198,C1orf198 EXON Missense_R42S,Missense_R134S,Missense_R172S exm158335 1 230979560 [A/G] NM_001136495,NM_001136494,NM_032800 C1orf198,C1orf198,C1orf198 EXON Missense_S26F,Missense_S118F,Missense_S156F rs2095769 1 230981823 [A/G] NM_001136495,NM_001136494,NM_032800 C1orf198,C1orf198,C1orf198 Silent,Silent,Silent rs11805329 1 230984594 [A/C] NM_001136495,NM_001136494,NM_032800 C1orf198,C1orf198,C1orf198 Silent,Silent,Silent rs1202568 1 230990550 [T/C] NM_001136495,NM_001136494,NM_032800 C1orf198,C1orf198,C1orf198 Silent,Silent,Silent rs1999903 1 230994593 [T/C] NM_001136494,NM_032800 C1orf198,C1orf198 Silent,Silent rs1202581 1 231000867 [A/G] NM_001136494,NM_032800 C1orf198,C1orf198 Silent,Silent exm158360 1 231004221 [A/G] NM_001136494,NM_032800 C1orf198,C1orf198 EXON Silent,Missense_S13L rs1202592 1 231012625 [A/G] rs1202610 1 231026087 [A/G] rs6704527 1 231028032 [T/G] rs3762404 1 231036505 [T/C] rs7533188 1 231041558 [A/G] 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 rs10864790 1 231053063 [A/G] NM_001122835,NM_024525 TTC13,TTC13 Silent,Silent rs6656765 1 231054409 [A/G] NM_001122835,NM_024525 TTC13,TTC13 Silent,Silent 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 indel.10674 1 231064801 [D/I] NM_001122835,NM_024525 TTC13,TTC13 EXON rs12093178 1 231066697 [A/G] NM_001122835,NM_024525 TTC13,TTC13 Silent,Silent rs11122623 1 231066782 [A/G] NM_001122835,NM_024525 TTC13,TTC13 Silent,Silent rs1890352 1 231069814 [T/C] NM_001122835,NM_024525 TTC13,TTC13 Silent,Silent variant.10675 1 231076239 [A/G] NM_001122835,NM_024525 TTC13,TTC13 EXON Nonsense_Q193X,Nonsense_Q246X exm1767489 1 231079622 [C/G] NM_001122835,NM_024525 TTC13,TTC13 EXON Silent,Missense_A201G rs6541240 1 231090578 [A/G] NM_001122835,NM_024525 TTC13,TTC13 Silent,Silent rs12041215 1 231098099 [A/G] NM_001122835,NM_024525 TTC13,TTC13 Silent,Silent rs6541247 1 231104225 [T/C] NM_001122835,NM_024525 TTC13,TTC13 Silent,Silent rs11122173 1 231113437 [A/C] NM_001122835,NM_024525 TTC13,TTC13 Silent,Silent 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 rs10864645 1 231115887 [A/C] NM_022786 ARV1 Silent 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 rs12732752 1 231128319 [A/G] NM_022786 ARV1 Silent newrs139430705 1 231131504 [A/G] NM_022786 ARV1 Silent exm158470 1 231131713 [A/C] NM_022786 ARV1 EXON Missense_N219T exm158476 1 231133014 [A/G] NM_022786 ARV1 Silent variant.10683 1 231133018 [T/C] NM_022786 ARV1 Silent rs11122186 1 231134867 [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 rs4304564 1 231156743 [T/C] NM_198552 FAM89A Silent rs4658913 1 231160646 [T/C] NM_198552 FAM89A Silent rs4378192 1 231173379 [T/C] NM_198552 FAM89A Silent rs10864662 1 231191803 [A/G] rs12117901 1 231194176 [A/G] rs4658931 1 231195342 [T/G] rs11122213 1 231199867 [A/G] rs4399139 1 231200830 [T/G] rs10864665 1 231204794 [A/G] rs6674245 1 231207771 [A/G] rs3923542 1 231211408 [A/G] rs4322215 1 231228173 [A/G] rs7521117 1 231234439 [T/C] rs1321130 1 231244401 [T/C] rs6697412 1 231246212 [A/G] rs10864669 1 231254003 [A/G] rs2883720 1 231255113 [T/C] rs12028750 1 231262020 [A/G] exm2268843 1 231262876 [T/C] rs12023396 1 231270636 [A/G] rs9431646 1 231273550 [A/G] rs765265 1 231276007 [A/G] rs6684407 1 231277763 [A/G] rs2236063 1 231301889 [A/C] NM_001004342 TRIM67 Silent rs9431660 1 231311867 [A/G] NM_001004342 TRIM67 Silent rs12048739 1 231316174 [T/G] NM_001004342 TRIM67 Silent 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 rs6679627 1 231341569 [T/G] NM_001004342 TRIM67 Silent rs2180273 1 231342857 [T/C] NM_001004342 TRIM67 Silent indel.10689 1 231344767 [I/D] NM_001004342 TRIM67 EXON exm158589 1 231344908 [A/G] NM_001004342 TRIM67 EXON Missense_M679V rs16841556 1 231345300 [A/C] NM_001004342 TRIM67 Silent rs524331 1 231355070 [A/G] NM_001004342 TRIM67 EXON Silent variant.10690 1 231361215 [A/C] NM_152379 C1orf131 Silent exm158625 1 231362795 [T/C] NM_152379 C1orf131 EXON Missense_R177Q exm158629 1 231364919 [T/C] NM_152379 C1orf131 EXON Missense_T163A rs551480 1 231365440 [A/G] NM_152379 C1orf131 Silent 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 indel.10691 1 231374890 [I/D] NM_152379 C1orf131 EXON exm158647 1 231376793 [A/G] NM_152379 C1orf131 EXON Missense_L32P exm158648 1 231376806 [C/G] NM_152379 C1orf131 EXON Missense_L28V rs518686 1 231377081 [T/C] NM_014236 GNPAT EXON Silent exm158657 1 231377150 [T/C] NM_014236 GNPAT EXON Missense_S9F exm158660 1 231377189 [T/C] NM_014236 GNPAT EXON Missense_V22A rs503633 1 231389097 [T/C] NM_014236 GNPAT Silent exm158666 1 231396277 [T/G] NM_014236 GNPAT EXON Missense_V96L indel.10696 1 231396290 [I/D] NM_014236 GNPAT EXON 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 indel.10698 1 231403585 [D/I] NM_014236 GNPAT EXON exm158715 1 231406707 [A/G] NM_014236 GNPAT EXON Missense_V495I rs539699 1 231406961 [T/C] NM_014236 GNPAT Silent 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 rs540479 1 231416547 [T/C] rs6541266 1 231459478 [A/G] exm158744 1 231471540 [A/G] NM_175876 EXOC8 EXON Missense_I651T variant.10699 1 231471587 [A/C] NM_175876 EXOC8 EXON Nonsense_Y635X 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_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Missense_Q18E,Missense_Q18E,Missense_Q18E exm158841 1 231483670 [T/C] NM_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Missense_T150M,Missense_T150M,Silent newrs144560721 1 231487310 [T/G] NM_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Missense_E237D,Missense_E237D,Missense_E194D exm158859 1 231488403 [A/G] NM_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Missense_K256E,Silent,Silent exm158869 1 231488524 [T/C] NM_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Missense_P296L,Silent,Silent exm1767831 1 231488541 [A/G] NM_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Missense_V302M,Silent,Silent exm158885 1 231488952 [A/T] NM_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Missense_T439S,Silent,Silent exm1767836 1 231489081 [A/G] NM_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Missense_K482E,Silent,Silent rs2749717 1 231489353 [T/G] NM_032018,NM_001010984,NM_001261462 SPRTN,SPRTN,SPRTN EXON Silent,Silent,Silent exm158891 1 231502179 [A/G] NM_022051 EGLN1 EXON Missense_S420L indel.10704 1 231506357 [I/D] NM_022051 EGLN1 EXON rs973253 1 231520874 [T/C] NM_022051 EGLN1 Silent rs480902 1 231531627 [T/C] NM_022051 EGLN1 Silent rs2491417 1 231547888 [A/G] NM_022051 EGLN1 Silent rs2808611 1 231548480 [A/G] NM_022051 EGLN1 Silent exm158910 1 231557060 [T/C] NM_022051 EGLN1 EXON Missense_K192R exm158915 1 231557164 [G/C] NM_022051 EGLN1 EXON Missense_Q157H rs12407531 1 231572255 [T/C] rs1622146 1 231579172 [T/C] rs1769807 1 231651391 [A/G] rs1765794 1 231656418 [A/G] exm158930 1 231665015 [A/G] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_005999 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_R11G exm158931 1 231665034 [A/G] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_005999 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_N17S rs6668227 1 231709404 [A/G] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1765782 1 231711489 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1655305 1 231727447 [A/G] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NR_034037 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,LINC00582 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6655954 1 231728781 [A/G] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NR_034037 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,LINC00582 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1765791 1 231730121 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NR_034037 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,LINC00582 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1765777 1 231731742 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NR_034037 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,LINC00582 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs6656071 1 231737700 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NR_034037 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,LINC00582 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs9661331 1 231752306 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs4603118 1 231754600 [A/G] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs1865226 1 231757882 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400 TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1,TSNAX-DISC1 Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent rs2082552 1 231767890 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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 exm-rs12042938 1 231816842 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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 rs12040259 1 231826253 [A/G] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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 rs1538974 1 231828596 [T/G] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Silent,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q,Missense_R25Q exm158958 1 231829616 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Silent,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W,Missense_R38W exm158962 1 231829700 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Silent,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W,Missense_R66W exm158963 1 231829715 [T/G] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Silent,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L,Missense_V71L exm158964 1 231829740 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Silent,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L,Missense_S79L exm158966 1 231829752 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Silent,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V,Missense_A83V exm158973 1 231829851 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Silent,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V,Missense_A116V exm158980 1 231829983 [T/G] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Silent,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L,Missense_W160L exm1767961 1 231830012 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Silent,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C,Missense_R170C exm158986 1 231830151 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Silent,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L,Missense_S216L exm158995 1 231830295 [A/G] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Silent,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q,Missense_R264Q exm158999 1 231830364 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Silent,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L,Missense_P287L exm2232756 1 231830487 [A/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Silent,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N,Missense_T328N exm159002 1 231830492 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Silent,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F,Missense_L330F exm159004 1 231830538 [A/G] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Silent,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q,Missense_R345Q variant.10708 1 231837775 [A/G] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028399,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164554,NM_001164537 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,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Synonymous_E374E,Silent exm-rs12044355 1 231844347 [A/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164537 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 variant.10709 1 231858314 [A/G] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028398,NR_028400,NM_001164538,NM_001012958,NM_001164551,NM_001164553,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164552,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164550,NM_001164546,NM_001164545,NM_001164537 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 EXON Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Nonsense_W359X,Silent,Missense_E383K,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Silent,Missense_E425K,Silent,Silent,Silent rs4658939 1 231870689 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028398,NR_028400,NM_001164538,NM_001164551,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164546,NM_001164545,NM_001164537 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 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 rs2793093 1 231877073 [A/G] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028398,NR_028400,NM_001164538,NM_001164551,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164546,NM_001164545,NM_001164537 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 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 variant.10710 1 231885686 [T/C] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028398,NR_028400,NM_001164538,NM_001164551,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164546,NM_001164545,NM_001164537 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,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q28X,Synonymous_N354N,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q378X,Nonsense_Q410X exm159020 1 231885807 [A/G] NR_028393,NR_028395,NR_028394,NR_028396,NR_028397,NR_028398,NR_028400,NM_001164538,NM_001164551,NM_001164541,NM_001164539,NM_001164549,NM_001164540,NM_001164547,NM_001012957,NM_001164544,NM_001164548,NM_018662,NM_001164542,NM_001164556,NM_001164555,NM_001012959,NM_001164546,NM_001164545,NM_001164537 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,Si