ClinVar Miner

List of variants in gene TMEM43 studied for arrhythmogenic right ventricular cardiomyopathy

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 836
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HGVS dbSNP gnomAD frequency
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr) rs2340917 0.35127
NM_024334.3(TMEM43):c.504A>T (p.Lys168Asn) rs4685076 0.29043
NM_024334.3(TMEM43):c.883-47C>T rs2731320 0.16071
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_024334.3(TMEM43):c.909C>T (p.Ser303=) rs35100587 0.02012
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_024334.3(TMEM43):c.222C>T (p.Pro74=) rs34099410 0.00841
NM_024334.3(TMEM43):c.698A>G (p.Tyr233Cys) rs35924492 0.00660
NM_024334.3(TMEM43):c.953C>T (p.Ala318Val) rs11924644 0.00629
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_024334.3(TMEM43):c.*1054_*1058del rs550702296 0.00553
NM_024334.3(TMEM43):c.82C>T (p.Arg28Trp) rs35028636 0.00535
NM_024334.3(TMEM43):c.*806A>C rs58476065 0.00488
NM_024334.3(TMEM43):c.*8C>T rs192707412 0.00225
NM_024334.3(TMEM43):c.392+16G>A rs150859949 0.00100
NM_024334.3(TMEM43):c.163-6T>A rs372434224 0.00088
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906 0.00069
NM_024334.3(TMEM43):c.780+16A>G rs146077457 0.00065
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe) rs144152046 0.00046
NM_024334.3(TMEM43):c.516C>T (p.Ala172=) rs148432515 0.00045
NM_024334.3(TMEM43):c.279C>T (p.Gly93=) rs149883381 0.00044
NM_024334.3(TMEM43):c.45C>A (p.Val15=) rs150334659 0.00041
NM_024334.3(TMEM43):c.777C>T (p.His259=) rs143958148 0.00036
NM_024334.3(TMEM43):c.484G>A (p.Asp162Asn) rs150425166 0.00035
NM_024334.3(TMEM43):c.442+7G>A rs373590238 0.00031
NM_024334.3(TMEM43):c.1111T>C (p.Tyr371His) rs116911972 0.00024
NM_024334.3(TMEM43):c.564C>T (p.Gly188=) rs143124744 0.00024
NM_024334.3(TMEM43):c.1095G>A (p.Ala365=) rs141675061 0.00021
NM_024334.3(TMEM43):c.347G>A (p.Arg116Gln) rs143535006 0.00021
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr) rs139590716 0.00021
NM_024334.3(TMEM43):c.361A>G (p.Met121Val) rs369878538 0.00017
NM_024334.3(TMEM43):c.443-9C>T rs371866082 0.00017
NM_024334.3(TMEM43):c.280G>A (p.Ala94Thr) rs369142200 0.00014
NM_024334.3(TMEM43):c.864C>T (p.His288=) rs377585035 0.00014
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys) rs367910936 0.00013
NM_024334.3(TMEM43):c.429G>A (p.Thr143=) rs201217046 0.00011
NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys) rs754536393 0.00011
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr) rs151010429 0.00010
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val) rs144811578 0.00009
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg) rs730880226 0.00009
NM_024334.3(TMEM43):c.1089C>T (p.Thr363=) rs145094507 0.00008
NM_024334.3(TMEM43):c.286C>G (p.Arg96Gly) rs754797146 0.00008
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met) rs544554435 0.00008
NM_024334.3(TMEM43):c.798G>A (p.Arg266=) rs139078900 0.00008
NM_024334.3(TMEM43):c.-4C>T rs760598925 0.00007
NM_024334.3(TMEM43):c.1185A>G (p.Pro395=) rs747754860 0.00006
NM_024334.3(TMEM43):c.214G>A (p.Val72Met) rs368603914 0.00006
NM_024334.3(TMEM43):c.442+20C>T rs202103307 0.00006
NM_024334.3(TMEM43):c.53A>G (p.Lys18Arg) rs1214893591 0.00006
NM_024334.3(TMEM43):c.578C>T (p.Ser193Leu) rs140380494 0.00006
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln) rs193922707 0.00006
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp) rs201138253 0.00006
NM_024334.3(TMEM43):c.921G>A (p.Lys307=) rs201771608 0.00006
NM_024334.3(TMEM43):c.981A>G (p.Thr327=) rs764960823 0.00006
NM_024334.3(TMEM43):c.442+12G>C rs530183718 0.00005
NM_024334.3(TMEM43):c.679C>G (p.His227Asp) rs201460674 0.00005
NM_024334.3(TMEM43):c.882+17A>G rs370443570 0.00005
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter) rs778127887 0.00004
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu) rs376514478 0.00004
NM_024334.3(TMEM43):c.121A>G (p.Met41Val) rs144334386 0.00004
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys) rs201094625 0.00004
NM_024334.3(TMEM43):c.206C>T (p.Ser69Leu) rs369779779 0.00004
NM_024334.3(TMEM43):c.231C>G (p.Ile77Met) rs899266809 0.00004
NM_024334.3(TMEM43):c.310C>G (p.Pro104Ala) rs775872602 0.00004
NM_024334.3(TMEM43):c.402C>T (p.Thr134=) rs370422391 0.00004
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg) rs397517384 0.00004
NM_024334.3(TMEM43):c.447dup (p.Glu150Ter) rs1423539317 0.00004
NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter) rs147336367 0.00004
NM_024334.3(TMEM43):c.518T>C (p.Met173Thr) rs373023080 0.00004
NM_024334.3(TMEM43):c.579G>A (p.Ser193=) rs369319499 0.00004
NM_024334.3(TMEM43):c.624A>G (p.Leu208=) rs527942696 0.00004
NM_024334.3(TMEM43):c.705+11A>T rs960038220 0.00004
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met) rs780389237 0.00004
NM_024334.3(TMEM43):c.750C>T (p.Gly250=) rs374222050 0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00004
NM_024334.3(TMEM43):c.-2C>T rs754747623 0.00003
NM_024334.3(TMEM43):c.1000+12G>A rs749592639 0.00003
NM_024334.3(TMEM43):c.1112A>G (p.Tyr371Cys) rs752269639 0.00003
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter) rs773224617 0.00003
NM_024334.3(TMEM43):c.180G>A (p.Thr60=) rs765703685 0.00003
NM_024334.3(TMEM43):c.189A>G (p.Ser63=) rs934304715 0.00003
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys) rs140347235 0.00003
NM_024334.3(TMEM43):c.406G>A (p.Asp136Asn) rs559271953 0.00003
NM_024334.3(TMEM43):c.512+12G>A rs766205020 0.00003
NM_024334.3(TMEM43):c.584-13C>G rs748146417 0.00003
NM_024334.3(TMEM43):c.591C>T (p.Ile197=) rs145024252 0.00003
NM_024334.3(TMEM43):c.644A>C (p.His215Pro) rs730880225 0.00003
NM_024334.3(TMEM43):c.661C>T (p.Arg221Cys) rs182464375 0.00003
NM_024334.3(TMEM43):c.684C>T (p.Ser228=) rs371019231 0.00003
NM_024334.3(TMEM43):c.692C>T (p.Pro231Leu) rs533275736 0.00003
NM_024334.3(TMEM43):c.748G>A (p.Gly250Ser) rs371797765 0.00003
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp) rs139842014 0.00003
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln) rs757651177 0.00003
NM_024334.3(TMEM43):c.96C>T (p.Thr32=) rs1021721320 0.00003
NM_024334.3(TMEM43):c.980C>G (p.Thr327Arg) rs368111230 0.00003
NM_024334.3(TMEM43):c.1000+16G>A rs377252553 0.00002
NM_024334.3(TMEM43):c.1000+5G>T rs376589026 0.00002
NM_024334.3(TMEM43):c.1001-7T>C rs781382808 0.00002
NM_024334.3(TMEM43):c.1022G>A (p.Arg341Gln) rs749727938 0.00002
NM_024334.3(TMEM43):c.1059C>G (p.Phe353Leu) rs730880227 0.00002
NM_024334.3(TMEM43):c.1140C>T (p.Ala380=) rs1055842863 0.00002
NM_024334.3(TMEM43):c.1172G>A (p.Arg391Gln) rs757742631 0.00002
NM_024334.3(TMEM43):c.1184C>G (p.Pro395Arg) rs1169613716 0.00002
NM_024334.3(TMEM43):c.179C>T (p.Thr60Met) rs1362645227 0.00002
NM_024334.3(TMEM43):c.216G>A (p.Val72=) rs943527392 0.00002
NM_024334.3(TMEM43):c.317A>G (p.Tyr106Cys) rs747310600 0.00002
NM_024334.3(TMEM43):c.31C>T (p.Arg11Trp) rs201085402 0.00002
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala) rs182351748 0.00002
NM_024334.3(TMEM43):c.32G>A (p.Arg11Gln) rs568179990 0.00002
NM_024334.3(TMEM43):c.355G>A (p.Val119Met) rs757430674 0.00002
NM_024334.3(TMEM43):c.468C>T (p.Ile156=) rs769654404 0.00002
NM_024334.3(TMEM43):c.475A>G (p.Lys159Glu) rs1269566290 0.00002
NM_024334.3(TMEM43):c.600C>T (p.Val200=) rs760323011 0.00002
NM_024334.3(TMEM43):c.601G>A (p.Asp201Asn) rs138182276 0.00002
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala) rs397517386 0.00002
NM_024334.3(TMEM43):c.705+6C>T rs185025731 0.00002
NM_024334.3(TMEM43):c.719G>A (p.Arg240His) rs758817244 0.00002
NM_024334.3(TMEM43):c.747C>T (p.Ser249=) rs549809535 0.00002
NM_024334.3(TMEM43):c.778G>A (p.Val260Met) rs758872772 0.00002
NM_024334.3(TMEM43):c.781-4C>T rs1445555724 0.00002
NM_024334.3(TMEM43):c.829A>T (p.Thr277Ser) rs532872056 0.00002
NM_024334.3(TMEM43):c.956T>C (p.Met319Thr) rs775113815 0.00002
NM_024334.3(TMEM43):c.98C>T (p.Ser33Leu) rs539753097 0.00002
NM_024334.3(TMEM43):c.*849T>C rs886058034 0.00001
NM_024334.3(TMEM43):c.1000+2T>C rs748618994 0.00001
NM_024334.3(TMEM43):c.1000+6T>C rs773749788 0.00001
NM_024334.3(TMEM43):c.1001-11C>T rs755132712 0.00001
NM_024334.3(TMEM43):c.1037T>C (p.Ile346Thr) rs1286798674 0.00001
NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser) rs565997790 0.00001
NM_024334.3(TMEM43):c.1067C>T (p.Ala356Val) rs1465084342 0.00001
NM_024334.3(TMEM43):c.1074G>A (p.Ser358=) rs377104916 0.00001
NM_024334.3(TMEM43):c.1085T>G (p.Leu362Arg) rs756256793 0.00001
NM_024334.3(TMEM43):c.1090G>A (p.Val364Met) rs754236206 0.00001
NM_024334.3(TMEM43):c.1115G>A (p.Arg372Gln) rs749140979 0.00001
NM_024334.3(TMEM43):c.1120_1121del (p.Leu374fs) rs746672224 0.00001
NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser) rs767916602 0.00001
NM_024334.3(TMEM43):c.1158C>T (p.Pro386=) rs1377312502 0.00001
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp) rs765762863 0.00001
NM_024334.3(TMEM43):c.1178G>A (p.Arg393Gln) rs758037497 0.00001
NM_024334.3(TMEM43):c.1180G>A (p.Val394Met) rs758697367 0.00001
NM_024334.3(TMEM43):c.118C>G (p.Leu40Val) rs755682525 0.00001
NM_024334.3(TMEM43):c.136T>C (p.Ser46Pro) rs145510310 0.00001
NM_024334.3(TMEM43):c.13T>C (p.Tyr5His) rs727505249 0.00001
NM_024334.3(TMEM43):c.163-2A>T rs745694031 0.00001
NM_024334.3(TMEM43):c.164G>A (p.Gly55Asp) rs201453637 0.00001
NM_024334.3(TMEM43):c.167G>A (p.Arg56His) rs747164382 0.00001
NM_024334.3(TMEM43):c.168C>T (p.Arg56=) rs768752495 0.00001
NM_024334.3(TMEM43):c.178A>T (p.Thr60Ser) rs1695084121 0.00001
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly) rs1225730180 0.00001
NM_024334.3(TMEM43):c.186C>G (p.Thr62=) rs773764939 0.00001
NM_024334.3(TMEM43):c.207G>A (p.Ser69=) rs886058030 0.00001
NM_024334.3(TMEM43):c.208C>T (p.Leu70Phe) rs577359875 0.00001
NM_024334.3(TMEM43):c.213G>A (p.Val71=) rs756764750 0.00001
NM_024334.3(TMEM43):c.223G>A (p.Asp75Asn) rs138764471 0.00001
NM_024334.3(TMEM43):c.227G>A (p.Ser76Asn) rs144663367 0.00001
NM_024334.3(TMEM43):c.235A>G (p.Ser79Gly) rs930770110 0.00001
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala) rs148171303 0.00001
NM_024334.3(TMEM43):c.245C>T (p.Pro82Leu) rs748242385 0.00001
NM_024334.3(TMEM43):c.246G>A (p.Pro82=) rs376098518 0.00001
NM_024334.3(TMEM43):c.251A>G (p.Asn84Ser) rs773605236 0.00001
NM_024334.3(TMEM43):c.26G>A (p.Ser9Asn) rs1695062743 0.00001
NM_024334.3(TMEM43):c.275T>C (p.Ile92Thr) rs555913548 0.00001
NM_024334.3(TMEM43):c.324C>T (p.Val108=) rs371279985 0.00001
NM_024334.3(TMEM43):c.329T>C (p.Leu110Pro) rs1553602985 0.00001
NM_024334.3(TMEM43):c.333G>A (p.Pro111=) rs774276092 0.00001
NM_024334.3(TMEM43):c.344T>C (p.Leu115Pro) rs376182664 0.00001
NM_024334.3(TMEM43):c.346C>T (p.Arg116Trp) rs752588115 0.00001
NM_024334.3(TMEM43):c.354C>T (p.His118=) rs754103544 0.00001
NM_024334.3(TMEM43):c.380C>T (p.Thr127Ile) rs754381041 0.00001
NM_024334.3(TMEM43):c.381T>C (p.Thr127=) rs778409275 0.00001
NM_024334.3(TMEM43):c.392+8G>C rs187725428 0.00001
NM_024334.3(TMEM43):c.392+9T>C rs780392028 0.00001
NM_024334.3(TMEM43):c.401C>A (p.Thr134Asn) rs778405877 0.00001
NM_024334.3(TMEM43):c.42T>C (p.His14=) rs773252383 0.00001
NM_024334.3(TMEM43):c.443-10C>T rs1695115549 0.00001
NM_024334.3(TMEM43):c.443-12C>G rs368555747 0.00001
NM_024334.3(TMEM43):c.47A>T (p.Lys16Ile) rs770619613 0.00001
NM_024334.3(TMEM43):c.483C>T (p.Phe161=) rs772842801 0.00001
NM_024334.3(TMEM43):c.494T>C (p.Ile165Thr) rs1339170856 0.00001
NM_024334.3(TMEM43):c.497G>C (p.Gly166Ala) rs767516734 0.00001
NM_024334.3(TMEM43):c.49G>A (p.Val17Ile) rs370973153 0.00001
NM_024334.3(TMEM43):c.500A>G (p.His167Arg) rs775986881 0.00001
NM_024334.3(TMEM43):c.512+8C>A rs757632483 0.00001
NM_024334.3(TMEM43):c.515C>T (p.Ala172Val) rs553757132 0.00001
NM_024334.3(TMEM43):c.520G>A (p.Ala174Thr) rs397517385 0.00001
NM_024334.3(TMEM43):c.530C>T (p.Ser177Leu) rs1167948235 0.00001
NM_024334.3(TMEM43):c.542C>T (p.Thr181Ile) rs1695131103 0.00001
NM_024334.3(TMEM43):c.548C>G (p.Pro183Arg) rs746116143 0.00001
NM_024334.3(TMEM43):c.560T>C (p.Ile187Thr) rs772317634 0.00001
NM_024334.3(TMEM43):c.583+8T>C rs377518739 0.00001
NM_024334.3(TMEM43):c.584-16A>G rs562436722 0.00001
NM_024334.3(TMEM43):c.592G>A (p.Asp198Asn) rs1383512011 0.00001
NM_024334.3(TMEM43):c.606del (p.Phe203fs) rs753024549 0.00001
NM_024334.3(TMEM43):c.62C>T (p.Ser21Phe) rs794729183 0.00001
NM_024334.3(TMEM43):c.646G>A (p.Val216Met) rs143735210 0.00001
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys) rs562700595 0.00001
NM_024334.3(TMEM43):c.659G>A (p.Arg220His) rs570836197 0.00001
NM_024334.3(TMEM43):c.65dup (p.Pro23fs) rs1300909566 0.00001
NM_024334.3(TMEM43):c.662G>A (p.Arg221His) rs774735646 0.00001
NM_024334.3(TMEM43):c.664G>A (p.Gly222Arg) rs746183974 0.00001
NM_024334.3(TMEM43):c.686A>G (p.Glu229Gly) rs764671990 0.00001
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser) rs374202326 0.00001
NM_024334.3(TMEM43):c.704A>C (p.Glu235Ala) rs751419150 0.00001
NM_024334.3(TMEM43):c.705+5G>T rs754716462 0.00001
NM_024334.3(TMEM43):c.721G>A (p.Val241Ile) rs747344238 0.00001
NM_024334.3(TMEM43):c.734A>G (p.Tyr245Cys) rs150478052 0.00001
NM_024334.3(TMEM43):c.751G>A (p.Asp251Asn) rs375481688 0.00001
NM_024334.3(TMEM43):c.763C>T (p.Leu255=) rs761968722 0.00001
NM_024334.3(TMEM43):c.768C>A (p.Gly256=) rs955293392 0.00001
NM_024334.3(TMEM43):c.781-13G>T rs202207425 0.00001
NM_024334.3(TMEM43):c.781-3C>T rs780142044 0.00001
NM_024334.3(TMEM43):c.78G>A (p.Leu26=) rs1695064079 0.00001
NM_024334.3(TMEM43):c.801G>A (p.Gln267=) rs1258459178 0.00001
NM_024334.3(TMEM43):c.803G>T (p.Arg268Leu) rs769969149 0.00001
NM_024334.3(TMEM43):c.831C>T (p.Thr277=) rs758007704 0.00001
NM_024334.3(TMEM43):c.834G>A (p.Lys278=) rs151009158 0.00001
NM_024334.3(TMEM43):c.840G>C (p.Gly280=) rs755018311 0.00001
NM_024334.3(TMEM43):c.852G>A (p.Leu284=) rs139211731 0.00001
NM_024334.3(TMEM43):c.855C>G (p.Leu285=) rs1337055313 0.00001
NM_024334.3(TMEM43):c.859C>T (p.His287Tyr) rs780299346 0.00001
NM_024334.3(TMEM43):c.873C>T (p.Phe291=) rs1452047536 0.00001
NM_024334.3(TMEM43):c.882+8C>T rs920512368 0.00001
NM_024334.3(TMEM43):c.893A>G (p.His298Arg) rs1285837389 0.00001
NM_024334.3(TMEM43):c.895A>G (p.Arg299Gly) rs757038162 0.00001
NM_024334.3(TMEM43):c.90C>T (p.Ser30=) rs373839281 0.00001
NM_024334.3(TMEM43):c.935G>A (p.Arg312Gln) rs201543634 0.00001
NM_024334.3(TMEM43):c.940G>C (p.Ala314Pro) rs1431861933 0.00001
NM_024334.3(TMEM43):c.959T>G (p.Phe320Cys) rs886787374 0.00001
NM_024334.3(TMEM43):c.961A>G (p.Met321Val) rs397517387 0.00001
NM_024334.3(TMEM43):c.973C>T (p.Leu325Phe) rs373644386 0.00001
NM_024334.3(TMEM43):c.982C>T (p.Arg328Trp) rs561883271 0.00001
NM_024334.3(TMEM43):c.983G>A (p.Arg328Gln) rs185611706 0.00001
NM_024334.3(TMEM43):c.993C>T (p.Tyr331=) rs755042745 0.00001
NM_024334.3(TMEM43):c.997T>G (p.Leu333Val) rs1487754536 0.00001
NM_024334.3(TMEM43):c.99G>A (p.Ser33=) rs147710692 0.00001
NC_000003.11:g.(?_14166440)_(14185180_?)dup
NC_000003.11:g.(?_14166684)_(14183305_?)del
NC_000003.11:g.(?_14166694)_(14183295_?)dup
NC_000003.11:g.(?_14180660)_(14180817_?)del
NC_000003.11:g.(?_14180660)_(14183295_?)del
NC_000003.12:g.(?_14125184)_(14141805_?)dup
NM_024334.3(TMEM43):c.*1080G>T rs886058035
NM_024334.3(TMEM43):c.*1161C>A rs886058036
NM_024334.3(TMEM43):c.*1352_*1357del rs71699966
NM_024334.3(TMEM43):c.*1535T>C rs886058038
NM_024334.3(TMEM43):c.*1584G>T rs886058039
NM_024334.3(TMEM43):c.*1642T>G rs886058040
NM_024334.3(TMEM43):c.*1677dup rs886058041
NM_024334.3(TMEM43):c.*1700G>T rs886058042
NM_024334.3(TMEM43):c.*1A>C
NM_024334.3(TMEM43):c.*270T>C rs886058032
NM_024334.3(TMEM43):c.-10G>C
NM_024334.3(TMEM43):c.-12C>T
NM_024334.3(TMEM43):c.-13G>C
NM_024334.3(TMEM43):c.-3A>G rs763829810
NM_024334.3(TMEM43):c.-3A>T rs763829810
NM_024334.3(TMEM43):c.-6C>T rs1281893880
NM_024334.3(TMEM43):c.-9G>T
NM_024334.3(TMEM43):c.1000+13G>C
NM_024334.3(TMEM43):c.1000+3A>G rs1695218964
NM_024334.3(TMEM43):c.1001-10C>T
NM_024334.3(TMEM43):c.1001-3C>T rs1553603640
NM_024334.3(TMEM43):c.1001-4A>G rs960212953
NM_024334.3(TMEM43):c.1001-6C>T rs2124997132
NM_024334.3(TMEM43):c.1001dup (p.Asp335fs)
NM_024334.3(TMEM43):c.1002G>A (p.Val334=)
NM_024334.3(TMEM43):c.1004A>G (p.Asp335Gly) rs1553603641
NM_024334.3(TMEM43):c.100G>A (p.Gly34Ser) rs1376541965
NM_024334.3(TMEM43):c.1013C>T (p.Pro338Leu) rs17856369
NM_024334.3(TMEM43):c.1015G>A (p.Val339Ile)
NM_024334.3(TMEM43):c.1019T>C (p.Phe340Ser) rs1559363663
NM_024334.3(TMEM43):c.1019del (p.Phe340fs)
NM_024334.3(TMEM43):c.1028T>A (p.Leu343Gln)
NM_024334.3(TMEM43):c.1028T>C (p.Leu343Pro)
NM_024334.3(TMEM43):c.102T>A (p.Gly34=)
NM_024334.3(TMEM43):c.1034A>G (p.Asn345Ser) rs758981622
NM_024334.3(TMEM43):c.1036A>G (p.Ile346Val) rs2124997196
NM_024334.3(TMEM43):c.1038T>C (p.Ile346=) rs1695247267
NM_024334.3(TMEM43):c.103G>T (p.Gly35Trp)
NM_024334.3(TMEM43):c.1041C>T (p.Gly347=) rs1574942089
NM_024334.3(TMEM43):c.1042C>G (p.Leu348Val) rs769793469
NM_024334.3(TMEM43):c.1050C>G (p.Ala350=)
NM_024334.3(TMEM43):c.1050C>T (p.Ala350=) rs1574942095
NM_024334.3(TMEM43):c.1052T>C (p.Phe351Ser)
NM_024334.3(TMEM43):c.1058T>A (p.Phe353Tyr)
NM_024334.3(TMEM43):c.105G>A (p.Gly35=)
NM_024334.3(TMEM43):c.1061G>A (p.Cys354Tyr) rs187262922
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser) rs187262922
NM_024334.3(TMEM43):c.1061G>T (p.Cys354Phe) rs187262922
NM_024334.3(TMEM43):c.1064T>C (p.Val355Ala)
NM_024334.3(TMEM43):c.1067C>G (p.Ala356Gly)
NM_024334.3(TMEM43):c.1068C>G (p.Ala356=)
NM_024334.3(TMEM43):c.1068C>T (p.Ala356=)
NM_024334.3(TMEM43):c.106A>G (p.Met36Val)
NM_024334.3(TMEM43):c.1072T>C (p.Ser358Pro) rs1559363695
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu) rs63750743
NM_024334.3(TMEM43):c.1075C>T (p.Leu359=) rs767824014
NM_024334.3(TMEM43):c.1076T>C (p.Leu359Pro)
NM_024334.3(TMEM43):c.1077G>C (p.Leu359=)
NM_024334.3(TMEM43):c.1079C>T (p.Thr360Ile) rs1181935816
NM_024334.3(TMEM43):c.107T>A (p.Met36Lys) rs1695064880
NM_024334.3(TMEM43):c.1080C>T (p.Thr360=) rs370839609
NM_024334.3(TMEM43):c.1086G>A (p.Leu362=)
NM_024334.3(TMEM43):c.1088C>A (p.Thr363Asn)
NM_024334.3(TMEM43):c.108G>A (p.Met36Ile) rs1695064905
NM_024334.3(TMEM43):c.1090G>C (p.Val364Leu) rs754236206
NM_024334.3(TMEM43):c.1094C>G (p.Ala365Gly)
NM_024334.3(TMEM43):c.1094C>T (p.Ala365Val) rs1052317732
NM_024334.3(TMEM43):c.1097C>T (p.Ala366Val)
NM_024334.3(TMEM43):c.1100G>A (p.Gly367Asp) rs794729179
NM_024334.3(TMEM43):c.1109del (p.Phe370fs)
NM_024334.3(TMEM43):c.110T>C (p.Phe37Ser)
NM_024334.3(TMEM43):c.110T>G (p.Phe37Cys) rs1695064977
NM_024334.3(TMEM43):c.1110C>G (p.Phe370Leu)
NM_024334.3(TMEM43):c.1112A>C (p.Tyr371Ser) rs752269639
NM_024334.3(TMEM43):c.1112A>T (p.Tyr371Phe)
NM_024334.3(TMEM43):c.1116_1129dup (p.Leu377fs)
NM_024334.3(TMEM43):c.1117C>A (p.Pro373Thr) rs770871762
NM_024334.3(TMEM43):c.1119C>A (p.Pro373=)
NM_024334.3(TMEM43):c.1121T>C (p.Leu374Pro) rs2124997342
NM_024334.3(TMEM43):c.1122G>A (p.Leu374=)
NM_024334.3(TMEM43):c.1126G>T (p.Ala376Ser)
NM_024334.3(TMEM43):c.1127C>A (p.Ala376Asp)
NM_024334.3(TMEM43):c.1128C>T (p.Ala376=)
NM_024334.3(TMEM43):c.1129C>T (p.Leu377Phe)
NM_024334.3(TMEM43):c.112G>A (p.Val38Met) rs977468112
NM_024334.3(TMEM43):c.1132C>T (p.Leu378Phe)
NM_024334.3(TMEM43):c.1138G>A (p.Ala380Thr)
NM_024334.3(TMEM43):c.1139C>G (p.Ala380Gly)
NM_024334.3(TMEM43):c.113T>A (p.Val38Glu) rs1695065091
NM_024334.3(TMEM43):c.1147G>A (p.Ala383Thr) rs1695250482
NM_024334.3(TMEM43):c.1149C>A (p.Ala383=)
NM_024334.3(TMEM43):c.1149C>T (p.Ala383=)
NM_024334.3(TMEM43):c.1150C>A (p.Leu384Ile)
NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val) rs193922706
NM_024334.3(TMEM43):c.1150C>T (p.Leu384Phe) rs193922706
NM_024334.3(TMEM43):c.1153G>A (p.Val385Met)
NM_024334.3(TMEM43):c.1156C>T (p.Pro386Ser) rs1430520295
NM_024334.3(TMEM43):c.1159A>G (p.Ile387Val) rs541565919
NM_024334.3(TMEM43):c.1164T>C (p.Leu388=) rs1035334505
NM_024334.3(TMEM43):c.1165G>A (p.Val389Ile)
NM_024334.3(TMEM43):c.1165G>T (p.Val389Phe) rs1308027129
NM_024334.3(TMEM43):c.1167T>C (p.Val389=) rs1695251041
NM_024334.3(TMEM43):c.1168G>T (p.Ala390Ser) rs1695251084
NM_024334.3(TMEM43):c.1171C>T (p.Arg391Trp) rs1574942204
NM_024334.3(TMEM43):c.1172_1184del (p.Arg391fs) rs2124997454
NM_024334.3(TMEM43):c.1187C>T (p.Ala396Val) rs1339511658
NM_024334.3(TMEM43):c.1188C>T (p.Ala396=) rs2124997491
NM_024334.3(TMEM43):c.1192A>G (p.Lys398Glu)
NM_024334.3(TMEM43):c.1196T>G (p.Leu399Trp) rs1559363776
NM_024334.3(TMEM43):c.1198G>T (p.Glu400Ter) rs1252529536
NM_024334.3(TMEM43):c.1198del (p.Glu400fs)
NM_024334.3(TMEM43):c.1199A>C (p.Glu400Ala)
NM_024334.3(TMEM43):c.1199A>G (p.Glu400Gly)
NM_024334.3(TMEM43):c.11A>T (p.Asn4Ile)
NM_024334.3(TMEM43):c.12+16C>T
NM_024334.3(TMEM43):c.12+19G>A
NM_024334.3(TMEM43):c.12+2T>C
NM_024334.3(TMEM43):c.12+4A>C rs2124981822
NM_024334.3(TMEM43):c.12+6_12+15del
NM_024334.3(TMEM43):c.1201T>C (p.Ter401Arg)
NM_024334.3(TMEM43):c.1202del (p.Glu400_Ter401insTer)
NM_024334.3(TMEM43):c.124G>T (p.Ala42Ser) rs2124985701
NM_024334.3(TMEM43):c.13-12del
NM_024334.3(TMEM43):c.13-18C>T
NM_024334.3(TMEM43):c.13-1G>C rs2124985459
NM_024334.3(TMEM43):c.13-2A>C
NM_024334.3(TMEM43):c.13-3C>T
NM_024334.3(TMEM43):c.13-4T>C rs766665492
NM_024334.3(TMEM43):c.13-6C>T
NM_024334.3(TMEM43):c.135C>G (p.Leu45=)
NM_024334.3(TMEM43):c.136T>A (p.Ser46Thr) rs145510310
NM_024334.3(TMEM43):c.140T>C (p.Phe47Ser)
NM_024334.3(TMEM43):c.140_142del (p.Phe47del)
NM_024334.3(TMEM43):c.143A>C (p.Tyr48Ser) rs1553602871
NM_024334.3(TMEM43):c.143A>G (p.Tyr48Cys)
NM_024334.3(TMEM43):c.145C>T (p.Leu49=)
NM_024334.3(TMEM43):c.14A>G (p.Tyr5Cys)
NM_024334.3(TMEM43):c.158A>G (p.Asn53Ser)
NM_024334.3(TMEM43):c.162+17C>T rs1229821290
NM_024334.3(TMEM43):c.162+1G>A rs1695065907
NM_024334.3(TMEM43):c.162+20C>T
NM_024334.3(TMEM43):c.162+21del
NM_024334.3(TMEM43):c.162G>C (p.Glu54Asp) rs746126153
NM_024334.3(TMEM43):c.163-1G>C rs1060499911
NM_024334.3(TMEM43):c.163-20C>T
NM_024334.3(TMEM43):c.163-3C>G
NM_024334.3(TMEM43):c.163-3del rs371706980
NM_024334.3(TMEM43):c.163G>A (p.Gly55Ser)
NM_024334.3(TMEM43):c.165C>T (p.Gly55=)
NM_024334.3(TMEM43):c.169G>T (p.Ala57Ser) rs151010429
NM_024334.3(TMEM43):c.171A>G (p.Ala57=)
NM_024334.3(TMEM43):c.177G>A (p.Lys59=) rs1553602938
NM_024334.3(TMEM43):c.178A>G (p.Thr60Ala) rs1695084121
NM_024334.3(TMEM43):c.17C>G (p.Ser6Cys)
NM_024334.3(TMEM43):c.182C>T (p.Ala61Val)
NM_024334.3(TMEM43):c.186C>T (p.Thr62=)
NM_024334.3(TMEM43):c.190T>A (p.Leu64Met)
NM_024334.3(TMEM43):c.193G>A (p.Ala65Thr) rs1695084511
NM_024334.3(TMEM43):c.195T>C (p.Ala65=) rs2124986930
NM_024334.3(TMEM43):c.19A>G (p.Ser7Gly)
NM_024334.3(TMEM43):c.1A>G (p.Met1Val) rs757083718
NM_024334.3(TMEM43):c.200G>T (p.Gly67Val) rs766792876
NM_024334.3(TMEM43):c.201G>A (p.Gly67=)
NM_024334.3(TMEM43):c.202C>T (p.Leu68Phe)
NM_024334.3(TMEM43):c.203T>C (p.Leu68Pro) rs1553602940
NM_024334.3(TMEM43):c.204C>G (p.Leu68=)
NM_024334.3(TMEM43):c.204C>T (p.Leu68=) rs752403292
NM_024334.3(TMEM43):c.207G>C (p.Ser69=) rs886058030
NM_024334.3(TMEM43):c.208C>A (p.Leu70Ile)
NM_024334.3(TMEM43):c.213G>T (p.Val71=) rs756764750
NM_024334.3(TMEM43):c.218C>G (p.Ser73Cys) rs200652985
NM_024334.3(TMEM43):c.21T>C (p.Ser7=)
NM_024334.3(TMEM43):c.21T>G (p.Ser7Arg) rs371236613
NM_024334.3(TMEM43):c.227del (p.Ser76fs)
NM_024334.3(TMEM43):c.231C>T (p.Ile77=) rs899266809
NM_024334.3(TMEM43):c.235A>C (p.Ser79Arg) rs930770110
NM_024334.3(TMEM43):c.236G>C (p.Ser79Thr)
NM_024334.3(TMEM43):c.236del (p.Ser79fs)
NM_024334.3(TMEM43):c.237T>G (p.Ser79Arg)
NM_024334.3(TMEM43):c.241G>A (p.Ala81Thr) rs1695085843
NM_024334.3(TMEM43):c.241del (p.Ala81fs)
NM_024334.3(TMEM43):c.244C>T (p.Pro82Ser)
NM_024334.3(TMEM43):c.253G>A (p.Glu85Lys) rs397514044
NM_024334.3(TMEM43):c.255A>G (p.Glu85=)
NM_024334.3(TMEM43):c.255_256dup (p.Gly86fs)
NM_024334.3(TMEM43):c.256G>A (p.Gly86Arg)
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu) rs771454768
NM_024334.3(TMEM43):c.258A>C (p.Gly86=)
NM_024334.3(TMEM43):c.258A>T (p.Gly86=)
NM_024334.3(TMEM43):c.25A>G (p.Ser9Gly) rs1054032061
NM_024334.3(TMEM43):c.265G>A (p.Val89Met) rs147319971
NM_024334.3(TMEM43):c.267G>A (p.Val89=) rs763697982
NM_024334.3(TMEM43):c.269A>G (p.His90Arg)
NM_024334.3(TMEM43):c.273C>G (p.Ile91Met)
NM_024334.3(TMEM43):c.273C>T (p.Ile91=) rs764733979
NM_024334.3(TMEM43):c.281C>T (p.Ala94Val)
NM_024334.3(TMEM43):c.286C>A (p.Arg96=) rs754797146
NM_024334.3(TMEM43):c.286C>T (p.Arg96Trp)
NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln) rs748343919
NM_024334.3(TMEM43):c.287G>C (p.Arg96Pro) rs748343919
NM_024334.3(TMEM43):c.288G>A (p.Arg96=) rs2124987180
NM_024334.3(TMEM43):c.289A>T (p.Thr97Ser) rs1695087564
NM_024334.3(TMEM43):c.290C>T (p.Thr97Ile)
NM_024334.3(TMEM43):c.291A>T (p.Thr97=) rs2124987190
NM_024334.3(TMEM43):c.295A>G (p.Lys99Glu)
NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg) rs199943048
NM_024334.3(TMEM43):c.297+13G>A rs397517381
NM_024334.3(TMEM43):c.297+14G>T rs1695088030
NM_024334.3(TMEM43):c.297+16G>T
NM_024334.3(TMEM43):c.297+17A>C
NM_024334.3(TMEM43):c.297+1G>T
NM_024334.3(TMEM43):c.298-14G>T
NM_024334.3(TMEM43):c.298-15T>C
NM_024334.3(TMEM43):c.298-5T>A rs1027914711
NM_024334.3(TMEM43):c.298-6T>C
NM_024334.3(TMEM43):c.298-8G>C
NM_024334.3(TMEM43):c.301T>C (p.Leu101=)
NM_024334.3(TMEM43):c.304T>G (p.Ser102Ala)
NM_024334.3(TMEM43):c.305C>G (p.Ser102Cys)
NM_024334.3(TMEM43):c.30C>T (p.Thr10=) rs757554576
NM_024334.3(TMEM43):c.310C>T (p.Pro104Ser)
NM_024334.3(TMEM43):c.313A>G (p.Asn105Asp)
NM_024334.3(TMEM43):c.31C>G (p.Arg11Gly) rs201085402
NM_024334.3(TMEM43):c.322G>T (p.Val108Phe)
NM_024334.3(TMEM43):c.326A>G (p.His109Arg) rs1398278496
NM_024334.3(TMEM43):c.329_330del (p.Leu110fs) rs2124987821
NM_024334.3(TMEM43):c.331C>G (p.Pro111Ala) rs2124987826
NM_024334.3(TMEM43):c.332C>A (p.Pro111Gln) rs765816901
NM_024334.3(TMEM43):c.332C>T (p.Pro111Leu)
NM_024334.3(TMEM43):c.336T>C (p.Ala112=)
NM_024334.3(TMEM43):c.337G>A (p.Val113Met) rs572474708
NM_024334.3(TMEM43):c.346C>A (p.Arg116=) rs752588115
NM_024334.3(TMEM43):c.348G>A (p.Arg116=)
NM_024334.3(TMEM43):c.348del (p.Arg117fs) rs2124987856
NM_024334.3(TMEM43):c.349A>T (p.Arg117Trp) rs1695096953
NM_024334.3(TMEM43):c.351G>A (p.Arg117=) rs2124987872
NM_024334.3(TMEM43):c.351dup (p.His118fs)
NM_024334.3(TMEM43):c.352C>T (p.His118Tyr)
NM_024334.3(TMEM43):c.35G>A (p.Arg12Lys) rs1559359985
NM_024334.3(TMEM43):c.362T>C (p.Met121Thr) rs1286177938
NM_024334.3(TMEM43):c.362T>G (p.Met121Arg) rs1286177938
NM_024334.3(TMEM43):c.363G>A (p.Met121Ile) rs1695097590
NM_024334.3(TMEM43):c.366C>T (p.Tyr122=) rs2124987907
NM_024334.3(TMEM43):c.369A>G (p.Gln123=) rs2124987912
NM_024334.3(TMEM43):c.371G>A (p.Trp124Ter) rs2124987915
NM_024334.3(TMEM43):c.384G>C (p.Glu128Asp)
NM_024334.3(TMEM43):c.390C>A (p.Ser130=)
NM_024334.3(TMEM43):c.391A>C (p.Arg131=) rs2124987934
NM_024334.3(TMEM43):c.392+12G>T
NM_024334.3(TMEM43):c.392+14G>A
NM_024334.3(TMEM43):c.392+16_392+32del rs745331190
NM_024334.3(TMEM43):c.392+1G>C
NM_024334.3(TMEM43):c.392+4A>G rs397517382
NM_024334.3(TMEM43):c.392+6C>T rs1574937711
NM_024334.3(TMEM43):c.393-137_412dup
NM_024334.3(TMEM43):c.393-16T>A
NM_024334.3(TMEM43):c.393-18G>A
NM_024334.3(TMEM43):c.393-19T>C
NM_024334.3(TMEM43):c.393-2A>G
NM_024334.3(TMEM43):c.393-4G>T rs1247757810
NM_024334.3(TMEM43):c.393-5_395del
NM_024334.3(TMEM43):c.393-6C>T rs2124988705
NM_024334.3(TMEM43):c.393G>A (p.Arg131=) rs1695110759
NM_024334.3(TMEM43):c.394G>A (p.Glu132Lys)
NM_024334.3(TMEM43):c.394G>T (p.Glu132Ter) rs1315939046
NM_024334.3(TMEM43):c.395A>C (p.Glu132Ala)
NM_024334.3(TMEM43):c.396G>A (p.Glu132=)
NM_024334.3(TMEM43):c.396G>C (p.Glu132Asp) rs1553603024
NM_024334.3(TMEM43):c.396G>T (p.Glu132Asp) rs1553603024
NM_024334.3(TMEM43):c.39A>G (p.Glu13=) rs1444701312
NM_024334.3(TMEM43):c.3G>A (p.Met1Ile)
NM_024334.3(TMEM43):c.40C>T (p.His14Tyr)
NM_024334.3(TMEM43):c.410G>A (p.Gly137Glu) rs760628106
NM_024334.3(TMEM43):c.410G>C (p.Gly137Ala) rs760628106
NM_024334.3(TMEM43):c.411del (p.Gln138fs)
NM_024334.3(TMEM43):c.412C>T (p.Gln138Ter) rs794729180
NM_024334.3(TMEM43):c.414G>A (p.Gln138=)
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del) rs746639451
NM_024334.3(TMEM43):c.421A>G (p.Lys141Glu)
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln) rs145619906
NM_024334.3(TMEM43):c.426G>A (p.Glu142=) rs2124988827
NM_024334.3(TMEM43):c.429G>C (p.Thr143=)
NM_024334.3(TMEM43):c.430A>C (p.Arg144=)
NM_024334.3(TMEM43):c.437C>G (p.Ser146Cys)
NM_024334.3(TMEM43):c.437C>T (p.Ser146Phe) rs1053499435
NM_024334.3(TMEM43):c.440A>G (p.Tyr147Cys) rs766312977
NM_024334.3(TMEM43):c.442+10G>A rs2124988861
NM_024334.3(TMEM43):c.442+10G>T
NM_024334.3(TMEM43):c.442+11G>C
NM_024334.3(TMEM43):c.442+13C>T rs781640632
NM_024334.3(TMEM43):c.442+14C>T
NM_024334.3(TMEM43):c.442+19dup rs768508021
NM_024334.3(TMEM43):c.443-13T>G
NM_024334.3(TMEM43):c.443-15C>A
NM_024334.3(TMEM43):c.443-18A>T
NM_024334.3(TMEM43):c.443-2A>T
NM_024334.3(TMEM43):c.443-3C>G
NM_024334.3(TMEM43):c.443-4G>A
NM_024334.3(TMEM43):c.443-5A>G
NM_024334.3(TMEM43):c.443A>G (p.Asn148Ser) rs1046932119
NM_024334.3(TMEM43):c.446C>T (p.Thr149Ile) rs1695115690
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu) rs1369869806
NM_024334.3(TMEM43):c.45C>G (p.Val15=) rs150334659
NM_024334.3(TMEM43):c.464TCA[1] (p.Ile156del) rs1574938257
NM_024334.3(TMEM43):c.473G>A (p.Ser158Asn) rs1695116123
NM_024334.3(TMEM43):c.476A>T (p.Lys159Ile)
NM_024334.3(TMEM43):c.47A>G (p.Lys16Arg) rs770619613
NM_024334.3(TMEM43):c.482T>G (p.Phe161Cys)
NM_024334.3(TMEM43):c.482del (p.Phe161fs) rs769722980
NM_024334.3(TMEM43):c.484G>T (p.Asp162Tyr)
NM_024334.3(TMEM43):c.485A>G (p.Asp162Gly) rs1312639832
NM_024334.3(TMEM43):c.486_489del (p.Asp162fs) rs1060499910
NM_024334.3(TMEM43):c.487C>G (p.Arg163Gly)
NM_024334.3(TMEM43):c.488G>A (p.Arg163Gln) rs759676847
NM_024334.3(TMEM43):c.48A>G (p.Lys16=)
NM_024334.3(TMEM43):c.492G>A (p.Glu164=) rs949064136
NM_024334.3(TMEM43):c.492G>C (p.Glu164Asp) rs949064136
NM_024334.3(TMEM43):c.495T>C (p.Ile165=)
NM_024334.3(TMEM43):c.497G>T (p.Gly166Val)
NM_024334.3(TMEM43):c.499C>G (p.His167Asp) rs1553603052
NM_024334.3(TMEM43):c.4G>C (p.Ala2Pro) rs1695000807
NM_024334.3(TMEM43):c.501C>G (p.His167Gln)
NM_024334.3(TMEM43):c.502A>G (p.Lys168Glu)
NM_024334.3(TMEM43):c.507C>A (p.Asn169Lys)
NM_024334.3(TMEM43):c.511A>G (p.Ser171Gly)
NM_024334.3(TMEM43):c.511A>T (p.Ser171Cys) rs2124989219
NM_024334.3(TMEM43):c.512+15C>T
NM_024334.3(TMEM43):c.512+19G>A rs114026215
NM_024334.3(TMEM43):c.512+19G>T rs114026215
NM_024334.3(TMEM43):c.512+3G>A rs754209349
NM_024334.3(TMEM43):c.512+7G>A rs2124989229
NM_024334.3(TMEM43):c.512+9C>G rs2124989236
NM_024334.3(TMEM43):c.513-11C>T rs1695130290
NM_024334.3(TMEM43):c.513-14C>T
NM_024334.3(TMEM43):c.513-15T>A
NM_024334.3(TMEM43):c.513-16T>G
NM_024334.3(TMEM43):c.513-17C>A rs1230270948
NM_024334.3(TMEM43):c.513-17C>T
NM_024334.3(TMEM43):c.513-18G>A
NM_024334.3(TMEM43):c.513-20C>T rs1054904116
NM_024334.3(TMEM43):c.513-7C>T
NM_024334.3(TMEM43):c.513-8T>C rs2124989875
NM_024334.3(TMEM43):c.513-9C>G rs369551282
NM_024334.3(TMEM43):c.516C>G (p.Ala172=)
NM_024334.3(TMEM43):c.517A>G (p.Met173Val)
NM_024334.3(TMEM43):c.51T>G (p.Val17=) rs397517383
NM_024334.3(TMEM43):c.523G>A (p.Val175Met)
NM_024334.3(TMEM43):c.52A>G (p.Lys18Glu)
NM_024334.3(TMEM43):c.531A>T (p.Ser177=) rs1695130809
NM_024334.3(TMEM43):c.536_537inv (p.Met179Thr)
NM_024334.3(TMEM43):c.541A>G (p.Thr181Ala)
NM_024334.3(TMEM43):c.544G>A (p.Ala182Thr) rs757013233
NM_024334.3(TMEM43):c.545C>T (p.Ala182Val) rs1394010451
NM_024334.3(TMEM43):c.548C>T (p.Pro183Leu) rs746116143
NM_024334.3(TMEM43):c.548_559del (p.Pro183_Ile187delinsLeu)
NM_024334.3(TMEM43):c.549C>G (p.Pro183=)
NM_024334.3(TMEM43):c.550T>C (p.Phe184Leu)
NM_024334.3(TMEM43):c.552T>C (p.Phe184=)
NM_024334.3(TMEM43):c.556C>T (p.Gln186Ter) rs1553603107
NM_024334.3(TMEM43):c.55del (p.Thr19fs)
NM_024334.3(TMEM43):c.568T>A (p.Phe190Ile) rs768718054
NM_024334.3(TMEM43):c.573C>T (p.Phe191=) rs1276996116
NM_024334.3(TMEM43):c.576C>T (p.Leu192=) rs1574938735
NM_024334.3(TMEM43):c.578C>A (p.Ser193Ter)
NM_024334.3(TMEM43):c.57C>G (p.Thr19=)
NM_024334.3(TMEM43):c.57C>T (p.Thr19=)
NM_024334.3(TMEM43):c.582A>G (p.Ser194=)
NM_024334.3(TMEM43):c.583+10A>T rs760105643
NM_024334.3(TMEM43):c.583+13C>T
NM_024334.3(TMEM43):c.583+16C>T
NM_024334.3(TMEM43):c.583+4A>G rs1574938748
NM_024334.3(TMEM43):c.583+5G>A
NM_024334.3(TMEM43):c.583+6T>A
NM_024334.3(TMEM43):c.583+7C>T
NM_024334.3(TMEM43):c.583+8T>A
NM_024334.3(TMEM43):c.583+9C>G
NM_024334.3(TMEM43):c.584-15C>T rs1298507684
NM_024334.3(TMEM43):c.584-18C>T
NM_024334.3(TMEM43):c.584-4T>A rs2124990773
NM_024334.3(TMEM43):c.584-5C>T rs932265324
NM_024334.3(TMEM43):c.584-7C>G rs773841507
NM_024334.3(TMEM43):c.584-7C>T
NM_024334.3(TMEM43):c.584G>C (p.Gly195Ala) rs1458517961
NM_024334.3(TMEM43):c.584G>T (p.Gly195Val)
NM_024334.3(TMEM43):c.586C>G (p.Leu196Val)
NM_024334.3(TMEM43):c.588C>T (p.Leu196=)
NM_024334.3(TMEM43):c.596_597del (p.Lys199fs)
NM_024334.3(TMEM43):c.597A>T (p.Lys199Asn)
NM_024334.3(TMEM43):c.597del (p.Val200fs)
NM_024334.3(TMEM43):c.599T>C (p.Val200Ala) rs2124990795
NM_024334.3(TMEM43):c.59G>A (p.Ser20Asn)
NM_024334.3(TMEM43):c.59G>C (p.Ser20Thr) rs1261978753
NM_024334.3(TMEM43):c.600_607del (p.Asp201fs)
NM_024334.3(TMEM43):c.605A>T (p.Asn202Ile) rs958959766
NM_024334.3(TMEM43):c.60C>T (p.Ser20=)
NM_024334.3(TMEM43):c.611A>G (p.Lys204Arg) rs568657650
NM_024334.3(TMEM43):c.614C>T (p.Ser205Phe) rs769787683
NM_024334.3(TMEM43):c.615C>G (p.Ser205=) rs761287242
NM_024334.3(TMEM43):c.621C>G (p.Ser207Arg)
NM_024334.3(TMEM43):c.622C>T (p.Leu208=) rs1246435835
NM_024334.3(TMEM43):c.623T>C (p.Leu208Pro)
NM_024334.3(TMEM43):c.624A>T (p.Leu208=) rs527942696
NM_024334.3(TMEM43):c.626C>A (p.Ser209Tyr) rs1553603146
NM_024334.3(TMEM43):c.627C>T (p.Ser209=)
NM_024334.3(TMEM43):c.62C>G (p.Ser21Cys)
NM_024334.3(TMEM43):c.630G>A (p.Lys210=) rs1057523392
NM_024334.3(TMEM43):c.631C>G (p.Leu211Val) rs1209223184
NM_024334.3(TMEM43):c.634G>C (p.Glu212Gln)
NM_024334.3(TMEM43):c.639C>G (p.Asp213Glu)
NM_024334.3(TMEM43):c.640C>G (p.Pro214Ala) rs1574939150
NM_024334.3(TMEM43):c.644A>T (p.His215Leu) rs730880225
NM_024334.3(TMEM43):c.645T>C (p.His215=) rs370782259
NM_024334.3(TMEM43):c.645T>G (p.His215Gln) rs370782259
NM_024334.3(TMEM43):c.646G>T (p.Val216Leu) rs143735210
NM_024334.3(TMEM43):c.649G>A (p.Asp217Asn) rs2124990891
NM_024334.3(TMEM43):c.649G>C (p.Asp217His)
NM_024334.3(TMEM43):c.652A>G (p.Ile218Val)
NM_024334.3(TMEM43):c.65A>G (p.Gln22Arg)
NM_024334.3(TMEM43):c.662G>C (p.Arg221Pro)
NM_024334.3(TMEM43):c.662G>T (p.Arg221Leu)
NM_024334.3(TMEM43):c.667G>T (p.Asp223Tyr)
NM_024334.3(TMEM43):c.668A>T (p.Asp223Val)
NM_024334.3(TMEM43):c.669C>G (p.Asp223Glu)
NM_024334.3(TMEM43):c.66_67insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG (p.Pro23delinsAlaGlyArgGlyGlySerArgLeuTer)
NM_024334.3(TMEM43):c.670T>C (p.Phe224Leu) rs1695146244
NM_024334.3(TMEM43):c.674del (p.Phe225fs) rs1559361774
NM_024334.3(TMEM43):c.675C>G (p.Phe225Leu) rs1559361776
NM_024334.3(TMEM43):c.679C>T (p.His227Tyr) rs201460674
NM_024334.3(TMEM43):c.685G>A (p.Glu229Lys) rs1304261093
NM_024334.3(TMEM43):c.693C>T (p.Pro231=)
NM_024334.3(TMEM43):c.694A>G (p.Lys232Glu)
NM_024334.3(TMEM43):c.696G>C (p.Lys232Asn)
NM_024334.3(TMEM43):c.699T>A (p.Tyr233Ter) rs1321317891
NM_024334.3(TMEM43):c.699T>C (p.Tyr233=)
NM_024334.3(TMEM43):c.69A>C (p.Pro23=) rs767619018
NM_024334.3(TMEM43):c.702A>T (p.Pro234=)
NM_024334.3(TMEM43):c.703G>A (p.Glu235Lys) rs1574939228
NM_024334.3(TMEM43):c.704A>G (p.Glu235Gly) rs751419150
NM_024334.3(TMEM43):c.705+12G>A rs2124991000
NM_024334.3(TMEM43):c.705+14C>G rs983517574
NM_024334.3(TMEM43):c.705+15C>A
NM_024334.3(TMEM43):c.705+16T>C
NM_024334.3(TMEM43):c.705+20C>T
NM_024334.3(TMEM43):c.705+7G>C rs201916031
NM_024334.3(TMEM43):c.706-10C>T
NM_024334.3(TMEM43):c.706-13C>T
NM_024334.3(TMEM43):c.706-15C>G
NM_024334.3(TMEM43):c.706-1G>A rs764377071
NM_024334.3(TMEM43):c.706-1G>T
NM_024334.3(TMEM43):c.706-20T>C rs1001419903
NM_024334.3(TMEM43):c.706-3C>A
NM_024334.3(TMEM43):c.706-3del
NM_024334.3(TMEM43):c.706-4C>G rs760936714
NM_024334.3(TMEM43):c.706-6C>T rs1404287765
NM_024334.3(TMEM43):c.706-9dup
NM_024334.3(TMEM43):c.710G>A (p.Gly237Glu)
NM_024334.3(TMEM43):c.712G>A (p.Asp238Asn) rs2124991270
NM_024334.3(TMEM43):c.714C>G (p.Asp238Glu)
NM_024334.3(TMEM43):c.714C>T (p.Asp238=)
NM_024334.3(TMEM43):c.718C>G (p.Arg240Gly) rs367910936
NM_024334.3(TMEM43):c.719G>C (p.Arg240Pro)
NM_024334.3(TMEM43):c.723C>T (p.Val241=)
NM_024334.3(TMEM43):c.724del (p.Ser242fs)
NM_024334.3(TMEM43):c.725C>G (p.Ser242Cys)
NM_024334.3(TMEM43):c.734A>T (p.Tyr245Phe)
NM_024334.3(TMEM43):c.743T>C (p.Leu248Pro) rs774356401
NM_024334.3(TMEM43):c.744G>A (p.Leu248=) rs533455369
NM_024334.3(TMEM43):c.749dup (p.Asp251fs) rs1695151947
NM_024334.3(TMEM43):c.753T>C (p.Asp251=) rs2124991349
NM_024334.3(TMEM43):c.756C>T (p.Asp252=)
NM_024334.3(TMEM43):c.758C>G (p.Pro253Arg)
NM_024334.3(TMEM43):c.759T>C (p.Pro253=)
NM_024334.3(TMEM43):c.760_780+2dup rs1559361931
NM_024334.3(TMEM43):c.761A>C (p.Asp254Ala)
NM_024334.3(TMEM43):c.764T>C (p.Leu255Pro) rs1343395046
NM_024334.3(TMEM43):c.767G>A (p.Gly256Asp) rs2124991379
NM_024334.3(TMEM43):c.772G>A (p.Ala258Thr)
NM_024334.3(TMEM43):c.778G>T (p.Val260Leu)
NM_024334.3(TMEM43):c.77T>C (p.Leu26Pro) rs2124985579
NM_024334.3(TMEM43):c.780+13C>T
NM_024334.3(TMEM43):c.780+18G>A
NM_024334.3(TMEM43):c.780+19G>A rs2124991426
NM_024334.3(TMEM43):c.780+20del
NM_024334.3(TMEM43):c.780+5C>A
NM_024334.3(TMEM43):c.780+7T>G
NM_024334.3(TMEM43):c.781-10C>G rs1695161102
NM_024334.3(TMEM43):c.781-13G>C
NM_024334.3(TMEM43):c.781-16C>T
NM_024334.3(TMEM43):c.781-17C>A
NM_024334.3(TMEM43):c.781-17C>G
NM_024334.3(TMEM43):c.781-19C>T
NM_024334.3(TMEM43):c.781-4C>G rs1445555724
NM_024334.3(TMEM43):c.781-7T>A
NM_024334.3(TMEM43):c.788T>A (p.Val263Glu)
NM_024334.3(TMEM43):c.788_789del (p.Val263fs) rs1489814713
NM_024334.3(TMEM43):c.792T>C (p.Ile264=) rs1408153534
NM_024334.3(TMEM43):c.795C>T (p.Ala265=)
NM_024334.3(TMEM43):c.7G>A (p.Ala3Thr)
NM_024334.3(TMEM43):c.803G>A (p.Arg268Gln) rs769969149
NM_024334.3(TMEM43):c.804G>A (p.Arg268=)
NM_024334.3(TMEM43):c.809A>G (p.Asp270Gly) rs1201367358
NM_024334.3(TMEM43):c.810C>T (p.Asp270=) rs763026916
NM_024334.3(TMEM43):c.813G>A (p.Gln271=)
NM_024334.3(TMEM43):c.814C>T (p.Leu272=) rs759993739
NM_024334.3(TMEM43):c.824T>G (p.Phe275Cys)
NM_024334.3(TMEM43):c.833A>G (p.Lys278Arg) rs1427535931
NM_024334.3(TMEM43):c.834G>C (p.Lys278Asn)
NM_024334.3(TMEM43):c.836C>A (p.Ser279Tyr)
NM_024334.3(TMEM43):c.837T>G (p.Ser279=) rs751086845
NM_024334.3(TMEM43):c.83G>C (p.Arg28Pro) rs757651177
NM_024334.3(TMEM43):c.841G>A (p.Asp281Asn)
NM_024334.3(TMEM43):c.844A>C (p.Thr282Pro)
NM_024334.3(TMEM43):c.844A>G (p.Thr282Ala)
NM_024334.3(TMEM43):c.846C>A (p.Thr282=) rs1384290838
NM_024334.3(TMEM43):c.846C>T (p.Thr282=) rs1384290838
NM_024334.3(TMEM43):c.849A>G (p.Leu283=) rs1695162928
NM_024334.3(TMEM43):c.850C>G (p.Leu284Val) rs727504764
NM_024334.3(TMEM43):c.850C>T (p.Leu284=)
NM_024334.3(TMEM43):c.852_853delinsAA (p.Leu285Ile) rs1695163023
NM_024334.3(TMEM43):c.853C>A (p.Leu285Ile)
NM_024334.3(TMEM43):c.853C>T (p.Leu285Phe) rs186530498
NM_024334.3(TMEM43):c.855C>T (p.Leu285=)
NM_024334.3(TMEM43):c.856C>T (p.Leu286=)
NM_024334.3(TMEM43):c.861C>G (p.His287Gln) rs886039048
NM_024334.3(TMEM43):c.861C>T (p.His287=)
NM_024334.3(TMEM43):c.862C>T (p.His288Tyr) rs771028028
NM_024334.3(TMEM43):c.863A>G (p.His288Arg)
NM_024334.3(TMEM43):c.866G>A (p.Gly289Glu)
NM_024334.3(TMEM43):c.867G>A (p.Gly289=)
NM_024334.3(TMEM43):c.877G>A (p.Ala293Thr) rs1060501357
NM_024334.3(TMEM43):c.878C>A (p.Ala293Glu) rs1695163617
NM_024334.3(TMEM43):c.878C>T (p.Ala293Val)
NM_024334.3(TMEM43):c.882+12G>A
NM_024334.3(TMEM43):c.882+13C>A
NM_024334.3(TMEM43):c.882+17A>C
NM_024334.3(TMEM43):c.882+18C>T rs1695163911
NM_024334.3(TMEM43):c.882+20C>T rs1695163974
NM_024334.3(TMEM43):c.883-13C>A
NM_024334.3(TMEM43):c.883-15C>G
NM_024334.3(TMEM43):c.883-16C>T rs2124995118
NM_024334.3(TMEM43):c.883-3C>T
NM_024334.3(TMEM43):c.883-6C>T
NM_024334.3(TMEM43):c.884_886del
NM_024334.3(TMEM43):c.886G>A (p.Val296Met) rs1695216015
NM_024334.3(TMEM43):c.887T>C (p.Val296Ala)
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile) rs990243563
NM_024334.3(TMEM43):c.892C>G (p.His298Asp) rs1559363073
NM_024334.3(TMEM43):c.894T>C (p.His298=)
NM_024334.3(TMEM43):c.894T>G (p.His298Gln)
NM_024334.3(TMEM43):c.895dup (p.Arg299fs) rs1695216412
NM_024334.3(TMEM43):c.898G>T (p.Glu300Ter) rs746029667
NM_024334.3(TMEM43):c.89G>A (p.Ser30Asn) rs570799464
NM_024334.3(TMEM43):c.8C>G (p.Ala3Gly)
NM_024334.3(TMEM43):c.901C>G (p.Leu301Val)
NM_024334.3(TMEM43):c.904A>T (p.Arg302Trp)
NM_024334.3(TMEM43):c.905G>A (p.Arg302Lys) rs539945827
NM_024334.3(TMEM43):c.905G>C (p.Arg302Thr)
NM_024334.3(TMEM43):c.908G>A (p.Ser303Asn)
NM_024334.3(TMEM43):c.90C>G (p.Ser30Arg)
NM_024334.3(TMEM43):c.914C>A (p.Ser305Tyr) rs777277570
NM_024334.3(TMEM43):c.915C>A (p.Ser305=)
NM_024334.3(TMEM43):c.917T>C (p.Met306Thr)
NM_024334.3(TMEM43):c.917_918delinsCT (p.Met306Thr) rs1553603453
NM_024334.3(TMEM43):c.918G>T (p.Met306Ile)
NM_024334.3(TMEM43):c.923C>T (p.Thr308Ile)
NM_024334.3(TMEM43):c.924C>G (p.Thr308=)
NM_024334.3(TMEM43):c.924C>T (p.Thr308=)
NM_024334.3(TMEM43):c.925T>C (p.Trp309Arg)
NM_024334.3(TMEM43):c.928G>T (p.Gly310Cys)
NM_024334.3(TMEM43):c.929del (p.Gly310fs) rs2124995245
NM_024334.3(TMEM43):c.937G>A (p.Ala313Thr) rs2124995269
NM_024334.3(TMEM43):c.937G>C (p.Ala313Pro)
NM_024334.3(TMEM43):c.944G>T (p.Gly315Val)
NM_024334.3(TMEM43):c.946T>A (p.Trp316Arg)
NM_024334.3(TMEM43):c.955A>G (p.Met319Val)
NM_024334.3(TMEM43):c.962T>C (p.Met321Thr)
NM_024334.3(TMEM43):c.964G>A (p.Gly322Ser) rs1231932407
NM_024334.3(TMEM43):c.965G>T (p.Gly322Val) rs1553603462
NM_024334.3(TMEM43):c.969C>T (p.Leu323=)
NM_024334.3(TMEM43):c.970A>G (p.Asn324Asp) rs1365389365
NM_024334.3(TMEM43):c.971A>G (p.Asn324Ser)
NM_024334.3(TMEM43):c.971A>T (p.Asn324Ile)
NM_024334.3(TMEM43):c.971del (p.Asn324fs) rs1553603465
NM_024334.3(TMEM43):c.977T>A (p.Met326Lys)
NM_024334.3(TMEM43):c.985A>C (p.Ile329Leu) rs1060501358
NM_024334.3(TMEM43):c.990C>A (p.Leu330=)
NM_024334.3(TMEM43):c.990C>G (p.Leu330=)
NM_024334.3(TMEM43):c.990C>T (p.Leu330=) rs780129544
NM_024334.3(TMEM43):c.992A>G (p.Tyr331Cys)
NM_024334.3(TMEM43):c.994A>G (p.Thr332Ala) rs2124995399
NM_024334.3(TMEM43):c.995C>G (p.Thr332Ser)
NM_024334.3(TMEM43):c.99G>C (p.Ser33=) rs147710692
NM_024334.3(TMEM43):c.99_120del (p.Gly34fs)
NM_024334.3(TMEM43):c.9G>A (p.Ala3=)

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