ClinVar Miner

List of variants reported as uncertain significance for Epidermodysplasia verruciformis

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 559
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HGVS dbSNP gnomAD frequency
NM_152468.5(TMC8):c.913C>T (p.Leu305Phe) rs149997470 0.00063
NM_152468.5(TMC8):c.390C>G (p.Phe130Leu) rs61755873 0.00056
NM_001127198.5(TMC6):c.890C>T (p.Ala297Val) rs199717203 0.00054
NM_001127198.5(TMC6):c.1672G>A (p.Val558Ile) rs199724291 0.00045
NM_001127198.5(TMC6):c.317T>C (p.Val106Ala) rs147389770 0.00044
NM_001127198.5(TMC6):c.941C>T (p.Thr314Met) rs151028330 0.00041
NM_001127198.5(TMC6):c.2378C>T (p.Ala793Val) rs138958849 0.00040
NM_001127198.5(TMC6):c.554C>T (p.Pro185Leu) rs373631928 0.00031
NM_001127198.5(TMC6):c.481C>T (p.Arg161Trp) rs145774728 0.00028
NM_152468.5(TMC8):c.250C>G (p.Leu84Val) rs968762906 0.00027
NM_152468.5(TMC8):c.1235A>G (p.Asn412Ser) rs772650292 0.00026
NM_001127198.5(TMC6):c.386G>A (p.Arg129His) rs367594085 0.00025
NM_152468.5(TMC8):c.1818G>A (p.Met606Ile) rs369040695 0.00019
NM_001127198.5(TMC6):c.129G>C (p.Gln43His) rs371802601 0.00017
NM_001127198.5(TMC6):c.2230C>T (p.Arg744Trp) rs564531122 0.00017
NM_001127198.5(TMC6):c.1334C>T (p.Ala445Val) rs148585370 0.00016
NM_001127198.5(TMC6):c.953C>T (p.Pro318Leu) rs374227044 0.00015
NM_001127198.5(TMC6):c.1075G>T (p.Val359Leu) rs145227095 0.00014
NM_001127198.5(TMC6):c.1754C>T (p.Pro585Leu) rs200495626 0.00014
NM_152468.5(TMC8):c.448+3G>A rs369233408 0.00014
NM_001127198.5(TMC6):c.227C>T (p.Thr76Met) rs866058450 0.00013
NM_152468.5(TMC8):c.106G>A (p.Val36Met) rs753691901 0.00013
NM_152468.5(TMC8):c.1513C>T (p.Leu505Phe) rs147922298 0.00013
NM_001127198.5(TMC6):c.1918C>T (p.Arg640Cys) rs372881492 0.00011
NM_001127198.5(TMC6):c.274C>T (p.Arg92Cys) rs1052987266 0.00011
NM_001127198.5(TMC6):c.325C>T (p.Arg109Trp) rs375283780 0.00011
NM_001127198.5(TMC6):c.989C>T (p.Pro330Leu) rs1402737637 0.00011
NM_152468.5(TMC8):c.2132C>T (p.Ala711Val) rs573706900 0.00011
NM_152468.5(TMC8):c.764G>A (p.Arg255Gln) rs150810138 0.00011
NM_152468.5(TMC8):c.875C>T (p.Thr292Met) rs140623039 0.00011
NM_001127198.5(TMC6):c.73T>C (p.Tyr25His) rs765966901 0.00010
NM_001127198.5(TMC6):c.1147G>A (p.Val383Ile) rs375277020 0.00009
NM_001127198.5(TMC6):c.1333G>A (p.Ala445Thr) rs750556964 0.00009
NM_001127198.5(TMC6):c.2354G>C (p.Arg785Thr) rs763777731 0.00009
NM_001127198.5(TMC6):c.413C>T (p.Thr138Met) rs553985699 0.00009
NM_152468.5(TMC8):c.149+4G>T rs200226247 0.00009
NM_152468.5(TMC8):c.1576C>T (p.Arg526Cys) rs199993214 0.00009
NM_152468.5(TMC8):c.268C>T (p.Leu90Phe) rs1222174878 0.00009
NM_152468.5(TMC8):c.839G>A (p.Arg280His) rs199502890 0.00009
NM_152468.5(TMC8):c.865C>T (p.Arg289Trp) rs370405566 0.00009
NM_152468.5(TMC8):c.1103C>T (p.Thr368Met) rs137855965 0.00008
NM_152468.5(TMC8):c.1360G>T (p.Asp454Tyr) rs142790683 0.00008
NM_152468.5(TMC8):c.1363C>T (p.Arg455Trp) rs560274584 0.00008
NM_152468.5(TMC8):c.185G>A (p.Arg62His) rs757695775 0.00008
NM_152468.5(TMC8):c.461C>A (p.Pro154His) rs141101059 0.00008
NM_001127198.5(TMC6):c.1213C>T (p.Arg405Cys) rs369868982 0.00007
NM_001127198.5(TMC6):c.1292C>T (p.Ala431Val) rs200760468 0.00007
NM_001127198.5(TMC6):c.1856T>A (p.Ile619Asn) rs1338150971 0.00007
NM_001127198.5(TMC6):c.1916C>T (p.Pro639Leu) rs148239603 0.00007
NM_001127198.5(TMC6):c.2162A>C (p.Asn721Thr) rs781552554 0.00007
NM_001127198.5(TMC6):c.2275A>G (p.Asn759Asp) rs768627239 0.00007
NM_001127198.5(TMC6):c.712G>A (p.Gly238Arg) rs185225783 0.00007
NM_152468.5(TMC8):c.605G>A (p.Arg202His) rs374504400 0.00007
NM_152468.5(TMC8):c.693G>C (p.Lys231Asn) rs376873435 0.00007
NM_152468.5(TMC8):c.901C>T (p.Arg301Trp) rs778554801 0.00007
NM_001127198.5(TMC6):c.180A>C (p.Thr60=) rs750150319 0.00006
NM_001127198.5(TMC6):c.2280G>C (p.Glu760Asp) rs748630526 0.00006
NM_001127198.5(TMC6):c.56+6C>T rs766610250 0.00006
NM_001127198.5(TMC6):c.823G>T (p.Val275Phe) rs138860970 0.00006
NM_001127198.5(TMC6):c.889G>A (p.Ala297Thr) rs750652637 0.00006
NM_152468.5(TMC8):c.1766G>A (p.Arg589His) rs535003756 0.00006
NM_152468.5(TMC8):c.1886G>T (p.Arg629Leu) rs369861947 0.00006
NM_152468.5(TMC8):c.25T>C (p.Ser9Pro) rs779748966 0.00006
NM_152468.5(TMC8):c.35C>T (p.Ala12Val) rs748499539 0.00006
NM_152468.5(TMC8):c.563C>T (p.Ala188Val) rs748557129 0.00006
NM_001127198.5(TMC6):c.1591C>T (p.Arg531Cys) rs139049167 0.00005
NM_001127198.5(TMC6):c.1846G>A (p.Val616Met) rs774643891 0.00005
NM_001127198.5(TMC6):c.364C>T (p.Arg122Cys) rs775694083 0.00005
NM_152468.5(TMC8):c.1396C>T (p.Arg466Trp) rs149327841 0.00005
NM_152468.5(TMC8):c.533C>A (p.Ala178Asp) rs138940132 0.00005
NM_001127198.5(TMC6):c.1175C>T (p.Thr392Met) rs765228601 0.00004
NM_001127198.5(TMC6):c.1193G>A (p.Arg398His) rs150505551 0.00004
NM_001127198.5(TMC6):c.1375A>G (p.Met459Val) rs754878859 0.00004
NM_001127198.5(TMC6):c.1603G>A (p.Val535Ile) rs777395340 0.00004
NM_001127198.5(TMC6):c.1715+6G>A rs779755857 0.00004
NM_001127198.5(TMC6):c.1993G>A (p.Ala665Thr) rs148112314 0.00004
NM_001127198.5(TMC6):c.2244G>T (p.Lys748Asn) rs374785246 0.00004
NM_001127198.5(TMC6):c.35C>T (p.Pro12Leu) rs781092489 0.00004
NM_001127198.5(TMC6):c.611G>A (p.Arg204Gln) rs769859459 0.00004
NM_001127198.5(TMC6):c.706C>T (p.Arg236Cys) rs753272370 0.00004
NM_001127198.5(TMC6):c.922G>A (p.Gly308Ser) rs752806660 0.00004
NM_152468.5(TMC8):c.1218T>G (p.Cys406Trp) rs753900323 0.00004
NM_152468.5(TMC8):c.1435G>A (p.Val479Met) rs771242674 0.00004
NM_152468.5(TMC8):c.1787C>G (p.Ser596Cys) rs780927655 0.00004
NM_152468.5(TMC8):c.1835C>T (p.Thr612Met) rs201296911 0.00004
NM_152468.5(TMC8):c.248G>C (p.Arg83Pro) rs1021551980 0.00004
NM_152468.5(TMC8):c.532-5C>G rs756103854 0.00004
NM_152468.5(TMC8):c.592G>A (p.Val198Met) rs138026813 0.00004
NM_152468.5(TMC8):c.665G>A (p.Arg222Gln) rs779111855 0.00004
NM_152468.5(TMC8):c.838C>T (p.Arg280Cys) rs139386301 0.00004
NM_001127198.5(TMC6):c.1138G>A (p.Ala380Thr) rs369389565 0.00003
NM_001127198.5(TMC6):c.1240G>A (p.Glu414Lys) rs536179551 0.00003
NM_001127198.5(TMC6):c.1252C>T (p.Arg418Trp) rs567045355 0.00003
NM_001127198.5(TMC6):c.1298T>C (p.Val433Ala) rs954564790 0.00003
NM_001127198.5(TMC6):c.134C>T (p.Thr45Met) rs746048217 0.00003
NM_001127198.5(TMC6):c.1493C>T (p.Pro498Leu) rs772074105 0.00003
NM_001127198.5(TMC6):c.1691C>T (p.Thr564Met) rs775756280 0.00003
NM_001127198.5(TMC6):c.1829C>T (p.Ser610Leu) rs1334699503 0.00003
NM_001127198.5(TMC6):c.2014G>A (p.Val672Ile) rs760800225 0.00003
NM_001127198.5(TMC6):c.205C>T (p.Arg69Trp) rs529531268 0.00003
NM_001127198.5(TMC6):c.2074G>A (p.Glu692Lys) rs753605181 0.00003
NM_001127198.5(TMC6):c.2080G>A (p.Gly694Ser) rs201042145 0.00003
NM_001127198.5(TMC6):c.2354+3G>T rs1470334232 0.00003
NM_001127198.5(TMC6):c.2383C>T (p.Pro795Ser) rs755596766 0.00003
NM_001127198.5(TMC6):c.28G>A (p.Asp10Asn) rs752560268 0.00003
NM_001127198.5(TMC6):c.370G>A (p.Ala124Thr) rs759925295 0.00003
NM_001127198.5(TMC6):c.55G>T (p.Gly19Cys) rs1236303263 0.00003
NM_001127198.5(TMC6):c.628G>A (p.Val210Met) rs998707301 0.00003
NM_001127198.5(TMC6):c.691C>T (p.Arg231Cys) rs566431890 0.00003
NM_001127198.5(TMC6):c.697G>A (p.Ala233Thr) rs758146730 0.00003
NM_152468.5(TMC8):c.1315G>A (p.Val439Met) rs370144998 0.00003
NM_152468.5(TMC8):c.1324G>A (p.Ala442Thr) rs144134870 0.00003
NM_152468.5(TMC8):c.1407C>A (p.Phe469Leu) rs528085214 0.00003
NM_152468.5(TMC8):c.1418A>G (p.Lys473Arg) rs1053461998 0.00003
NM_152468.5(TMC8):c.1533+5C>T rs201383384 0.00003
NM_152468.5(TMC8):c.1556G>A (p.Arg519Lys) rs201514566 0.00003
NM_152468.5(TMC8):c.1637C>T (p.Ala546Val) rs1290549286 0.00003
NM_152468.5(TMC8):c.2156G>A (p.Arg719His) rs776097975 0.00003
NM_152468.5(TMC8):c.946G>A (p.Ala316Thr) rs540027573 0.00003
NM_152468.5(TMC8):c.961A>G (p.Thr321Ala) rs764033782 0.00003
NM_152468.5(TMC8):c.988G>A (p.Glu330Lys) rs769031304 0.00003
NM_001127198.5(TMC6):c.1013A>G (p.Asn338Ser) rs760333391 0.00002
NM_001127198.5(TMC6):c.1112G>A (p.Arg371Gln) rs773268528 0.00002
NM_001127198.5(TMC6):c.1270G>A (p.Val424Met) rs747391950 0.00002
NM_001127198.5(TMC6):c.1403A>G (p.Gln468Arg) rs939273818 0.00002
NM_001127198.5(TMC6):c.1472G>A (p.Arg491His) rs764901750 0.00002
NM_001127198.5(TMC6):c.1618T>C (p.Cys540Arg) rs1290282651 0.00002
NM_001127198.5(TMC6):c.1651C>T (p.Arg551Trp) rs779481795 0.00002
NM_001127198.5(TMC6):c.1726G>A (p.Glu576Lys) rs121908328 0.00002
NM_001127198.5(TMC6):c.1753C>A (p.Pro585Thr) rs377112991 0.00002
NM_001127198.5(TMC6):c.1771C>T (p.Arg591Trp) rs142184953 0.00002
NM_001127198.5(TMC6):c.1774A>G (p.Asn592Asp) rs909137702 0.00002
NM_001127198.5(TMC6):c.1795G>T (p.Gly599Trp) rs779095021 0.00002
NM_001127198.5(TMC6):c.1843G>A (p.Ala615Thr) rs149875354 0.00002
NM_001127198.5(TMC6):c.1888-6C>T rs753497031 0.00002
NM_001127198.5(TMC6):c.1921C>T (p.Arg641Trp) rs139050383 0.00002
NM_001127198.5(TMC6):c.2053C>T (p.Arg685Trp) rs555577776 0.00002
NM_001127198.5(TMC6):c.2108C>T (p.Ala703Val) rs774998109 0.00002
NM_001127198.5(TMC6):c.2231G>A (p.Arg744Gln) rs765770297 0.00002
NM_001127198.5(TMC6):c.224G>A (p.Ser75Asn) rs1197069109 0.00002
NM_001127198.5(TMC6):c.2355G>C (p.Arg785Ser) rs866233074 0.00002
NM_001127198.5(TMC6):c.2368G>A (p.Glu790Lys) rs376941719 0.00002
NM_001127198.5(TMC6):c.238C>T (p.Arg80Cys) rs564531007 0.00002
NM_001127198.5(TMC6):c.365G>A (p.Arg122His) rs200579060 0.00002
NM_001127198.5(TMC6):c.394G>A (p.Asp132Asn) rs746535494 0.00002
NM_001127198.5(TMC6):c.409C>T (p.Pro137Ser) rs758391457 0.00002
NM_001127198.5(TMC6):c.430+3G>A rs1474816104 0.00002
NM_001127198.5(TMC6):c.551C>A (p.Thr184Asn) rs1184836790 0.00002
NM_001127198.5(TMC6):c.578C>T (p.Pro193Leu) rs758512733 0.00002
NM_001127198.5(TMC6):c.826G>A (p.Ala276Thr) rs201290210 0.00002
NM_001127198.5(TMC6):c.94G>A (p.Asp32Asn) rs139636418 0.00002
NM_152468.5(TMC8):c.1033G>A (p.Ala345Thr) rs141819789 0.00002
NM_152468.5(TMC8):c.1128-3C>G rs753333357 0.00002
NM_152468.5(TMC8):c.1376G>A (p.Arg459Gln) rs532478080 0.00002
NM_152468.5(TMC8):c.137A>G (p.Lys46Arg) rs1296523340 0.00002
NM_152468.5(TMC8):c.1397G>A (p.Arg466Gln) rs559358892 0.00002
NM_152468.5(TMC8):c.1792G>A (p.Ala598Thr) rs772823217 0.00002
NM_152468.5(TMC8):c.1876C>T (p.His626Tyr) rs369436673 0.00002
NM_152468.5(TMC8):c.1912G>T (p.Glu638Ter) rs373080751 0.00002
NM_152468.5(TMC8):c.232C>T (p.Arg78Trp) rs1035555956 0.00002
NM_152468.5(TMC8):c.307G>C (p.Gly103Arg) rs755470929 0.00002
NM_152468.5(TMC8):c.340C>A (p.Arg114Ser) rs769970838 0.00002
NM_152468.5(TMC8):c.487G>A (p.Val163Ile) rs753915057 0.00002
NM_152468.5(TMC8):c.503A>G (p.Asn168Ser) rs765373712 0.00002
NM_152468.5(TMC8):c.91G>A (p.Gly31Ser) rs767843139 0.00002
NM_001127198.5(TMC6):c.1039G>A (p.Val347Met) rs770976228 0.00001
NM_001127198.5(TMC6):c.10C>A (p.Pro4Thr) rs756095076 0.00001
NM_001127198.5(TMC6):c.1100G>A (p.Gly367Glu) rs201400275 0.00001
NM_001127198.5(TMC6):c.1159T>C (p.Trp387Arg) rs142057980 0.00001
NM_001127198.5(TMC6):c.116A>G (p.Gln39Arg) rs974988254 0.00001
NM_001127198.5(TMC6):c.1184G>A (p.Arg395Gln) rs571643180 0.00001
NM_001127198.5(TMC6):c.1219C>T (p.Arg407Trp) rs368793235 0.00001
NM_001127198.5(TMC6):c.1261C>A (p.Pro421Thr) rs1393120573 0.00001
NM_001127198.5(TMC6):c.1346C>T (p.Ala449Val) rs777068526 0.00001
NM_001127198.5(TMC6):c.1348G>A (p.Val450Met) rs138918101 0.00001
NM_001127198.5(TMC6):c.1360G>A (p.Val454Ile) rs772827765 0.00001
NM_001127198.5(TMC6):c.1367C>T (p.Ser456Leu) rs747645323 0.00001
NM_001127198.5(TMC6):c.1383+4C>T rs371986677 0.00001
NM_001127198.5(TMC6):c.1456G>A (p.Ala486Thr) rs368245596 0.00001
NM_001127198.5(TMC6):c.1459C>T (p.Pro487Ser) rs200099536 0.00001
NM_001127198.5(TMC6):c.1483G>A (p.Ala495Thr) rs772019840 0.00001
NM_001127198.5(TMC6):c.1502C>A (p.Ser501Tyr) rs749573628 0.00001
NM_001127198.5(TMC6):c.1513G>C (p.Glu505Gln) rs1598851405 0.00001
NM_001127198.5(TMC6):c.1520A>G (p.Tyr507Cys) rs755438439 0.00001
NM_001127198.5(TMC6):c.1535+6T>C rs763643231 0.00001
NM_001127198.5(TMC6):c.1652G>A (p.Arg551Gln) rs537200296 0.00001
NM_001127198.5(TMC6):c.170G>A (p.Arg57Gln) rs1036125960 0.00001
NM_001127198.5(TMC6):c.1716-8G>A rs781091487 0.00001
NM_001127198.5(TMC6):c.1742G>C (p.Arg581Thr) rs764555364 0.00001
NM_001127198.5(TMC6):c.1747C>T (p.Arg583Trp) rs770512733 0.00001
NM_001127198.5(TMC6):c.1772G>A (p.Arg591Gln) rs558312063 0.00001
NM_001127198.5(TMC6):c.1814T>C (p.Leu605Pro) rs764741111 0.00001
NM_001127198.5(TMC6):c.1816G>C (p.Gly606Arg) rs1326018151 0.00001
NM_001127198.5(TMC6):c.1852A>T (p.Ile618Phe) rs1259542640 0.00001
NM_001127198.5(TMC6):c.186T>G (p.Ser62Arg) rs1224440778 0.00001
NM_001127198.5(TMC6):c.1870G>A (p.Val624Ile) rs759759433 0.00001
NM_001127198.5(TMC6):c.1877A>G (p.Tyr626Cys) rs949679730 0.00001
NM_001127198.5(TMC6):c.1893C>A (p.Ser631Arg) rs777551337 0.00001
NM_001127198.5(TMC6):c.1922G>A (p.Arg641Gln) rs768761476 0.00001
NM_001127198.5(TMC6):c.1939C>T (p.His647Tyr) rs978974955 0.00001
NM_001127198.5(TMC6):c.1961C>T (p.Thr654Met) rs549556408 0.00001
NM_001127198.5(TMC6):c.1978G>A (p.Ala660Thr) rs1262702881 0.00001
NM_001127198.5(TMC6):c.1985T>C (p.Leu662Pro) rs1320078001 0.00001
NM_001127198.5(TMC6):c.1988G>A (p.Gly663Asp) rs751509409 0.00001
NM_001127198.5(TMC6):c.1990G>A (p.Ala664Thr) rs1043493457 0.00001
NM_001127198.5(TMC6):c.2011G>A (p.Ala671Thr) rs1415810329 0.00001
NM_001127198.5(TMC6):c.2022-3C>T rs1363065689 0.00001
NM_001127198.5(TMC6):c.2033C>T (p.Ser678Leu) rs749657465 0.00001
NM_001127198.5(TMC6):c.2054G>A (p.Arg685Gln) rs779661812 0.00001
NM_001127198.5(TMC6):c.2085G>C (p.Arg695Ser) rs1201341749 0.00001
NM_001127198.5(TMC6):c.2096G>A (p.Arg699His) rs763442488 0.00001
NM_001127198.5(TMC6):c.2117C>T (p.Pro706Leu) rs1241750777 0.00001
NM_001127198.5(TMC6):c.2239C>T (p.Arg747Cys) rs775954130 0.00001
NM_001127198.5(TMC6):c.2246T>C (p.Val749Ala) rs764486479 0.00001
NM_001127198.5(TMC6):c.2250C>G (p.Ile750Met) rs907697260 0.00001
NM_001127198.5(TMC6):c.2255T>C (p.Leu752Pro) rs200842857 0.00001
NM_001127198.5(TMC6):c.225C>A (p.Ser75Arg) rs370551411 0.00001
NM_001127198.5(TMC6):c.2326G>A (p.Glu776Lys) rs760748540 0.00001
NM_001127198.5(TMC6):c.2349G>T (p.Arg783Ser) rs189863331 0.00001
NM_001127198.5(TMC6):c.2351G>A (p.Ser784Asn) rs564327127 0.00001
NM_001127198.5(TMC6):c.2355-1G>C rs1268020368 0.00001
NM_001127198.5(TMC6):c.2387C>T (p.Pro796Leu) rs781023495 0.00001
NM_001127198.5(TMC6):c.2390C>T (p.Ala797Val) rs907354650 0.00001
NM_001127198.5(TMC6):c.239G>A (p.Arg80His) rs1285558240 0.00001
NM_001127198.5(TMC6):c.263G>A (p.Arg88His) rs374222927 0.00001
NM_001127198.5(TMC6):c.275G>A (p.Arg92His) rs1173031048 0.00001
NM_001127198.5(TMC6):c.302A>T (p.Tyr101Phe) rs145262917 0.00001
NM_001127198.5(TMC6):c.311G>A (p.Arg104His) rs1406614435 0.00001
NM_001127198.5(TMC6):c.316G>A (p.Val106Met) rs745334447 0.00001
NM_001127198.5(TMC6):c.341G>A (p.Arg114Gln) rs538278051 0.00001
NM_001127198.5(TMC6):c.352G>A (p.Gly118Arg) rs762117152 0.00001
NM_001127198.5(TMC6):c.377C>T (p.Pro126Leu) rs1448286849 0.00001
NM_001127198.5(TMC6):c.430+6T>C rs753678919 0.00001
NM_001127198.5(TMC6):c.440G>A (p.Ser147Asn) rs370392549 0.00001
NM_001127198.5(TMC6):c.44C>T (p.Pro15Leu) rs995338370 0.00001
NM_001127198.5(TMC6):c.482G>A (p.Arg161Gln) rs763383628 0.00001
NM_001127198.5(TMC6):c.485A>G (p.Asp162Gly) rs773599642 0.00001
NM_001127198.5(TMC6):c.496C>T (p.Arg166Cys) rs1324634722 0.00001
NM_001127198.5(TMC6):c.512G>A (p.Ser171Asn) rs775043003 0.00001
NM_001127198.5(TMC6):c.613C>A (p.Leu205Ile) rs1567999996 0.00001
NM_001127198.5(TMC6):c.62G>A (p.Gly21Asp) rs764574773 0.00001
NM_001127198.5(TMC6):c.635C>T (p.Ala212Val) rs548352171 0.00001
NM_001127198.5(TMC6):c.656C>T (p.Ala219Val) rs763931900 0.00001
NM_001127198.5(TMC6):c.668C>T (p.Ala223Val) rs2074610790 0.00001
NM_001127198.5(TMC6):c.692G>A (p.Arg231His) rs748531251 0.00001
NM_001127198.5(TMC6):c.74A>G (p.Tyr25Cys) rs375590298 0.00001
NM_001127198.5(TMC6):c.754C>T (p.Leu252Phe) rs1273041279 0.00001
NM_001127198.5(TMC6):c.758A>G (p.Lys253Arg) rs781759484 0.00001
NM_001127198.5(TMC6):c.83G>A (p.Ser28Asn) rs1190491595 0.00001
NM_001127198.5(TMC6):c.893G>A (p.Gly298Asp) rs776245103 0.00001
NM_001127198.5(TMC6):c.896G>T (p.Cys299Phe) rs768196061 0.00001
NM_001127198.5(TMC6):c.947A>T (p.Asn316Ile) rs746517168 0.00001
NM_001127198.5(TMC6):c.983G>A (p.Cys328Tyr) rs377696005 0.00001
NM_152468.5(TMC8):c.1108G>A (p.Val370Ile) rs376717585 0.00001
NM_152468.5(TMC8):c.1155G>T (p.Leu385Phe) rs1057423570 0.00001
NM_152468.5(TMC8):c.1186A>G (p.Ile396Val) rs149304896 0.00001
NM_152468.5(TMC8):c.1196T>C (p.Ile399Thr) rs757338835 0.00001
NM_152468.5(TMC8):c.11C>T (p.Pro4Leu) rs867374058 0.00001
NM_152468.5(TMC8):c.1254C>G (p.Cys418Trp) rs542103664 0.00001
NM_152468.5(TMC8):c.127A>G (p.Met43Val) rs1305314590 0.00001
NM_152468.5(TMC8):c.1304T>G (p.Phe435Cys) rs2075271531 0.00001
NM_152468.5(TMC8):c.133G>C (p.Asp45His) rs779552203 0.00001
NM_152468.5(TMC8):c.1405T>C (p.Phe469Leu) rs1371007530 0.00001
NM_152468.5(TMC8):c.1409T>G (p.Leu470Arg) rs1288376053 0.00001
NM_152468.5(TMC8):c.1411G>C (p.Val471Leu) rs747755714 0.00001
NM_152468.5(TMC8):c.1499G>A (p.Ser500Asn) rs754440009 0.00001
NM_152468.5(TMC8):c.1527C>G (p.Ile509Met) rs2510812598 0.00001
NM_152468.5(TMC8):c.1558G>A (p.Ala520Thr) rs865835847 0.00001
NM_152468.5(TMC8):c.1567C>T (p.Arg523Trp) rs147103093 0.00001
NM_152468.5(TMC8):c.157C>G (p.Arg53Gly) rs1417544539 0.00001
NM_152468.5(TMC8):c.1582T>C (p.Ser528Pro) rs1383156201 0.00001
NM_152468.5(TMC8):c.1589C>T (p.Ser530Phe) rs201607836 0.00001
NM_152468.5(TMC8):c.1615C>T (p.Leu539Phe) rs1351153068 0.00001
NM_152468.5(TMC8):c.1649G>A (p.Gly550Asp) rs1350592733 0.00001
NM_152468.5(TMC8):c.166G>C (p.Ala56Pro) rs1044475107 0.00001
NM_152468.5(TMC8):c.1673C>T (p.Ser558Phe) rs563497141 0.00001
NM_152468.5(TMC8):c.1687G>A (p.Gly563Ser) rs761173794 0.00001
NM_152468.5(TMC8):c.1735G>A (p.Val579Met) rs757215882 0.00001
NM_152468.5(TMC8):c.1765C>T (p.Arg589Cys) rs779822152 0.00001
NM_152468.5(TMC8):c.1823G>A (p.Ser608Asn) rs775574215 0.00001
NM_152468.5(TMC8):c.1842C>T (p.Cys614=) rs1473971152 0.00001
NM_152468.5(TMC8):c.1843G>A (p.Val615Ile) rs571040732 0.00001
NM_152468.5(TMC8):c.187T>C (p.Trp63Arg) rs2074996020 0.00001
NM_152468.5(TMC8):c.1885C>T (p.Arg629Trp) rs377668539 0.00001
NM_152468.5(TMC8):c.1899del (p.Trp634fs) rs1444491172 0.00001
NM_152468.5(TMC8):c.194G>T (p.Arg65Leu) rs779428022 0.00001
NM_152468.5(TMC8):c.1973C>T (p.Ser658Phe) rs1490535318 0.00001
NM_152468.5(TMC8):c.1976C>T (p.Pro659Leu) rs781468738 0.00001
NM_152468.5(TMC8):c.2039G>A (p.Cys680Tyr) rs1237055200 0.00001
NM_152468.5(TMC8):c.2078C>T (p.Pro693Leu) rs1383948718 0.00001
NM_152468.5(TMC8):c.2083G>A (p.Val695Ile) rs752088229 0.00001
NM_152468.5(TMC8):c.2092G>A (p.Ala698Thr) rs781413576 0.00001
NM_152468.5(TMC8):c.2114G>T (p.Cys705Phe) rs749559253 0.00001
NM_152468.5(TMC8):c.259G>C (p.Gly87Arg) rs1288621413 0.00001
NM_152468.5(TMC8):c.277G>A (p.Gly93Arg) rs954490437 0.00001
NM_152468.5(TMC8):c.341G>A (p.Arg114His) rs778033380 0.00001
NM_152468.5(TMC8):c.376C>T (p.Leu126Phe) rs1226397114 0.00001
NM_152468.5(TMC8):c.395T>G (p.Leu132Arg) rs752816881 0.00001
NM_152468.5(TMC8):c.416G>A (p.Arg139His) rs549283975 0.00001
NM_152468.5(TMC8):c.421C>A (p.Pro141Thr) rs569507457 0.00001
NM_152468.5(TMC8):c.427C>A (p.Pro143Thr) rs1445609111 0.00001
NM_152468.5(TMC8):c.469C>T (p.Arg157Cys) rs762677074 0.00001
NM_152468.5(TMC8):c.495G>C (p.Arg165Ser) rs761860622 0.00001
NM_152468.5(TMC8):c.531+3G>A rs967787162 0.00001
NM_152468.5(TMC8):c.548A>G (p.Tyr183Cys) rs756858053 0.00001
NM_152468.5(TMC8):c.569G>A (p.Arg190Gln) rs766694820 0.00001
NM_152468.5(TMC8):c.604C>T (p.Arg202Cys) rs558832885 0.00001
NM_152468.5(TMC8):c.616C>T (p.Leu206Phe) rs759778569 0.00001
NM_152468.5(TMC8):c.626C>T (p.Pro209Leu) rs760578642 0.00001
NM_152468.5(TMC8):c.667C>T (p.Arg223Trp) rs200991553 0.00001
NM_152468.5(TMC8):c.686C>T (p.Pro229Leu) rs773074189 0.00001
NM_152468.5(TMC8):c.746C>T (p.Ser249Leu) rs1213988715 0.00001
NM_152468.5(TMC8):c.801C>G (p.Ile267Met) rs767152216 0.00001
NM_152468.5(TMC8):c.822G>C (p.Glu274Asp) rs773623676 0.00001
NM_152468.5(TMC8):c.827A>G (p.Glu276Gly) rs751943470 0.00001
NM_152468.5(TMC8):c.868G>A (p.Ala290Thr) rs768411245 0.00001
NM_152468.5(TMC8):c.884G>A (p.Arg295His) rs373918852 0.00001
NM_152468.5(TMC8):c.922C>T (p.Leu308Phe) rs761343022 0.00001
NM_152468.5(TMC8):c.938C>T (p.Ala313Val) rs375213113 0.00001
NM_152468.5(TMC8):c.968A>G (p.Tyr323Cys) rs530521432 0.00001
NC_000017.10:g.(?_76004208)_(76127818_?)dup
NC_000017.10:g.(?_76109229)_(76115493_?)dup
NC_000017.10:g.(?_76109229)_(76127838_?)dup
NM_001127198.5(TMC6):c.1018C>T (p.Pro340Ser) rs771660744
NM_001127198.5(TMC6):c.1031T>C (p.Leu344Pro) rs2074567345
NM_001127198.5(TMC6):c.1083-9T>G rs2145264579
NM_001127198.5(TMC6):c.1097T>G (p.Phe366Cys) rs1222873672
NM_001127198.5(TMC6):c.1106G>C (p.Ser369Thr) rs2074478599
NM_001127198.5(TMC6):c.110_111delinsCT (p.Leu37Pro) rs2145422626
NM_001127198.5(TMC6):c.1111C>T (p.Arg371Trp) rs762521552
NM_001127198.5(TMC6):c.1130G>A (p.Gly377Asp)
NM_001127198.5(TMC6):c.1230G>T (p.Glu410Asp) rs2145227111
NM_001127198.5(TMC6):c.1241A>G (p.Glu414Gly) rs1386164382
NM_001127198.5(TMC6):c.1247A>G (p.Gln416Arg) rs2074422566
NM_001127198.5(TMC6):c.1270G>T (p.Val424Leu) rs747391950
NM_001127198.5(TMC6):c.1283T>C (p.Leu428Pro) rs1037757019
NM_001127198.5(TMC6):c.1285C>T (p.Arg429Trp) rs748800265
NM_001127198.5(TMC6):c.1294G>A (p.Ala432Thr) rs2145225248
NM_001127198.5(TMC6):c.1295C>T (p.Ala432Val) rs2145225212
NM_001127198.5(TMC6):c.1297G>T (p.Val433Leu) rs1313115253
NM_001127198.5(TMC6):c.1319T>G (p.Leu440Arg) rs1190848591
NM_001127198.5(TMC6):c.1333G>C (p.Ala445Pro) rs750556964
NM_001127198.5(TMC6):c.1333G>T (p.Ala445Ser) rs750556964
NM_001127198.5(TMC6):c.1383+5G>A rs1187013001
NM_001127198.5(TMC6):c.1441C>A (p.Leu481Ile) rs1598851806
NM_001127198.5(TMC6):c.1442T>C (p.Leu481Pro) rs2074393045
NM_001127198.5(TMC6):c.1444C>T (p.Leu482Phe) rs1439173052
NM_001127198.5(TMC6):c.1453G>C (p.Gly485Arg) rs2510488522
NM_001127198.5(TMC6):c.1481_1482delinsGT (p.Ala494Gly) rs2510487592
NM_001127198.5(TMC6):c.1484C>G (p.Ala495Gly) rs1183083508
NM_001127198.5(TMC6):c.1496A>G (p.His499Arg) rs778807539
NM_001127198.5(TMC6):c.1514A>T (p.Glu505Val) rs2145206146
NM_001127198.5(TMC6):c.1522G>C (p.Val508Leu) rs1273438063
NM_001127198.5(TMC6):c.1555G>A (p.Ala519Thr) rs1363866341
NM_001127198.5(TMC6):c.1589G>C (p.Gly530Ala) rs1467601497
NM_001127198.5(TMC6):c.1677_1679del (p.Met560del) rs1567991769
NM_001127198.5(TMC6):c.1687G>C (p.Asp563His) rs760833588
NM_001127198.5(TMC6):c.169C>T (p.Arg57Trp) rs368037760
NM_001127198.5(TMC6):c.1702G>C (p.Glu568Gln) rs2074369239
NM_001127198.5(TMC6):c.1761T>G (p.Phe587Leu) rs1449394311
NM_001127198.5(TMC6):c.176T>C (p.Val59Ala) rs2074726912
NM_001127198.5(TMC6):c.17C>G (p.Ala6Gly) rs1364411602
NM_001127198.5(TMC6):c.1819G>A (p.Val607Met) rs1222522675
NM_001127198.5(TMC6):c.1822C>T (p.Leu608Phe) rs1279716714
NM_001127198.5(TMC6):c.1840C>T (p.Pro614Ser) rs866852775
NM_001127198.5(TMC6):c.1882_1884AAG[1] (p.Lys629del) rs2145131223
NM_001127198.5(TMC6):c.1976_1984dup (p.Pro659_Phe661dup) rs1567986944
NM_001127198.5(TMC6):c.1979C>T (p.Ala660Val) rs965073134
NM_001127198.5(TMC6):c.1A>G (p.Met1Val) rs1598878219
NM_001127198.5(TMC6):c.2014G>C (p.Val672Leu) rs760800225
NM_001127198.5(TMC6):c.2029C>T (p.Pro677Ser) rs1197288239
NM_001127198.5(TMC6):c.205C>G (p.Arg69Gly) rs529531268
NM_001127198.5(TMC6):c.2078C>A (p.Ala693Asp) rs1195937550
NM_001127198.5(TMC6):c.208C>T (p.Pro70Ser) rs1159157986
NM_001127198.5(TMC6):c.2095C>G (p.Arg699Gly) rs375980611
NM_001127198.5(TMC6):c.2095C>T (p.Arg699Cys) rs375980611
NM_001127198.5(TMC6):c.211G>A (p.Glu71Lys) rs1181277338
NM_001127198.5(TMC6):c.2126C>T (p.Ser709Phe) rs2510327549
NM_001127198.5(TMC6):c.2135C>T (p.Pro712Leu)
NM_001127198.5(TMC6):c.2147G>T (p.Arg716Leu) rs149378643
NM_001127198.5(TMC6):c.2165C>G (p.Thr722Ser) rs755122700
NM_001127198.5(TMC6):c.2182G>A (p.Val728Met) rs2074185487
NM_001127198.5(TMC6):c.2203G>C (p.Val735Leu) rs747298813
NM_001127198.5(TMC6):c.2234G>A (p.Gly745Asp)
NM_001127198.5(TMC6):c.2240G>A (p.Arg747His) rs754324709
NM_001127198.5(TMC6):c.2263G>A (p.Glu755Lys) rs1467967272
NM_001127198.5(TMC6):c.2263_2264delinsTT (p.Glu755Leu) rs2510320530
NM_001127198.5(TMC6):c.2269A>G (p.Ile757Val) rs1404902913
NM_001127198.5(TMC6):c.2269A>T (p.Ile757Phe) rs1404902913
NM_001127198.5(TMC6):c.2282G>T (p.Gly761Val) rs2073905913
NM_001127198.5(TMC6):c.229G>A (p.Ala77Thr) rs930637410
NM_001127198.5(TMC6):c.2310G>C (p.Lys770Asn)
NM_001127198.5(TMC6):c.2325C>G (p.Tyr775Ter) rs370394664
NM_001127198.5(TMC6):c.2380G>A (p.Ala794Thr) rs112660101
NM_001127198.5(TMC6):c.2380G>C (p.Ala794Pro) rs112660101
NM_001127198.5(TMC6):c.238C>G (p.Arg80Gly) rs564531007
NM_001127198.5(TMC6):c.243C>G (p.Ile81Met) rs777740333
NM_001127198.5(TMC6):c.262C>T (p.Arg88Cys) rs748146597
NM_001127198.5(TMC6):c.265A>G (p.Thr89Ala) rs751985955
NM_001127198.5(TMC6):c.326G>A (p.Arg109Gln) rs755826726
NM_001127198.5(TMC6):c.333_335del (p.Arg111del) rs1568002050
NM_001127198.5(TMC6):c.340C>T (p.Arg114Trp) rs201014463
NM_001127198.5(TMC6):c.352G>C (p.Gly118Arg) rs762117152
NM_001127198.5(TMC6):c.365G>C (p.Arg122Pro) rs200579060
NM_001127198.5(TMC6):c.370G>C (p.Ala124Pro) rs759925295
NM_001127198.5(TMC6):c.385C>G (p.Arg129Gly) rs771251537
NM_001127198.5(TMC6):c.424G>A (p.Glu142Lys) rs2145392605
NM_001127198.5(TMC6):c.430+5G>C rs2074675709
NM_001127198.5(TMC6):c.431-10_431-5del rs2074647678
NM_001127198.5(TMC6):c.432G>T (p.Glu144Asp) rs2510662550
NM_001127198.5(TMC6):c.454G>A (p.Glu152Lys) rs2510662103
NM_001127198.5(TMC6):c.487C>A (p.His163Asn) rs2510661248
NM_001127198.5(TMC6):c.52C>A (p.Gln18Lys) rs1568004262
NM_001127198.5(TMC6):c.548G>T (p.Arg183Met) rs2145361826
NM_001127198.5(TMC6):c.55G>A (p.Gly19Ser) rs1236303263
NM_001127198.5(TMC6):c.57-5_57-3del rs2145423679
NM_001127198.5(TMC6):c.57C>T (p.Gly19=) rs2074732713
NM_001127198.5(TMC6):c.580G>A (p.Gly194Ser) rs2074624165
NM_001127198.5(TMC6):c.585C>A (p.Ser195Arg)
NM_001127198.5(TMC6):c.607G>C (p.Gly203Arg) rs2145359465
NM_001127198.5(TMC6):c.617G>T (p.Arg206Ile) rs1328174766
NM_001127198.5(TMC6):c.62G>T (p.Gly21Val) rs764574773
NM_001127198.5(TMC6):c.662_673del (p.Leu221_Leu224del) rs1410018147
NM_001127198.5(TMC6):c.67A>G (p.Ser23Gly) rs775897412
NM_001127198.5(TMC6):c.680T>C (p.Leu227Pro) rs984039591
NM_001127198.5(TMC6):c.704A>C (p.Lys235Thr) rs80354176
NM_001127198.5(TMC6):c.71C>T (p.Pro24Leu) rs2145423257
NM_001127198.5(TMC6):c.724G>A (p.Gly242Ser) rs1209555485
NM_001127198.5(TMC6):c.739T>C (p.Ser247Pro) rs1469859349
NM_001127198.5(TMC6):c.747C>A (p.Phe249Leu) rs1042301977
NM_001127198.5(TMC6):c.747C>T (p.Phe249=) rs1042301977
NM_001127198.5(TMC6):c.748C>T (p.Leu250Phe) rs2074604879
NM_001127198.5(TMC6):c.761C>A (p.Thr254Asn) rs2510642864
NM_001127198.5(TMC6):c.776A>G (p.Asn259Ser) rs753391575
NM_001127198.5(TMC6):c.77A>G (p.Asp26Gly) rs201785708
NM_001127198.5(TMC6):c.781C>T (p.Leu261Phe) rs375602430
NM_001127198.5(TMC6):c.791T>A (p.Leu264Gln) rs2145347840
NM_001127198.5(TMC6):c.82A>T (p.Ser28Cys) rs2510690267
NM_001127198.5(TMC6):c.892-3C>T rs2145330632
NM_001127198.5(TMC6):c.919T>C (p.Tyr307His) rs2074574322
NM_001127198.5(TMC6):c.982T>C (p.Cys328Arg)
NM_001127198.5(TMC6):c.982T>G (p.Cys328Gly) rs1446169271
NM_001127198.5(TMC6):c.991A>G (p.Arg331Gly) rs2074569792
NM_001127198.5(TMC6):c.998G>T (p.Gly333Val) rs752101891
NM_152468.5(TMC8):c.-20_7del (p.Met1_Leu3del) rs1230051290
NM_152468.5(TMC8):c.1025G>T (p.Gly342Val) rs1328226485
NM_152468.5(TMC8):c.1094C>T (p.Pro365Leu) rs2075183922
NM_152468.5(TMC8):c.1117A>G (p.Thr373Ala) rs1444068598
NM_152468.5(TMC8):c.1168G>C (p.Val390Leu) rs150546646
NM_152468.5(TMC8):c.118C>T (p.Pro40Ser) rs374017520
NM_152468.5(TMC8):c.1192T>C (p.Cys398Arg) rs2510806093
NM_152468.5(TMC8):c.1195A>G (p.Ile399Val) rs2075258218
NM_152468.5(TMC8):c.1209G>C (p.Lys403Asn) rs76467743
NM_152468.5(TMC8):c.1225T>C (p.Tyr409His) rs768453587
NM_152468.5(TMC8):c.1226A>C (p.Tyr409Ser) rs2510806211
NM_152468.5(TMC8):c.1234_1236del (p.Asn412del) rs2075259264
NM_152468.5(TMC8):c.1237G>A (p.Val413Ile) rs545052827
NM_152468.5(TMC8):c.1251+6T>C rs756485482
NM_152468.5(TMC8):c.1263C>G (p.Asn421Lys) rs2510810395
NM_152468.5(TMC8):c.1267G>A (p.Val423Met) rs368534068
NM_152468.5(TMC8):c.1313C>T (p.Thr438Ile) rs2145705977
NM_152468.5(TMC8):c.1328T>A (p.Phe443Tyr) rs2510810503
NM_152468.5(TMC8):c.1340T>A (p.Leu447Gln) rs2145706305
NM_152468.5(TMC8):c.1375C>G (p.Arg459Gly) rs764442700
NM_152468.5(TMC8):c.1375C>T (p.Arg459Trp) rs764442700
NM_152468.5(TMC8):c.1402_1403delinsTT (p.Glu468Leu) rs2075281016
NM_152468.5(TMC8):c.1418A>C (p.Lys473Thr) rs1053461998
NM_152468.5(TMC8):c.1432A>G (p.Ile478Val) rs2075281876
NM_152468.5(TMC8):c.1439C>A (p.Ala480Glu) rs199577034
NM_152468.5(TMC8):c.1449_1450delinsCT (p.Val484Phe) rs2145710563
NM_152468.5(TMC8):c.150-3del rs1297138292
NM_152468.5(TMC8):c.1517C>T (p.Thr506Ile) rs780544042
NM_152468.5(TMC8):c.151C>A (p.Gln51Lys)
NM_152468.5(TMC8):c.1533+3G>A rs768734718
NM_152468.5(TMC8):c.1533+5C>G rs201383384
NM_152468.5(TMC8):c.1552_1554del (p.Ser518del) rs2075290050
NM_152468.5(TMC8):c.155T>A (p.Leu52Gln)
NM_152468.5(TMC8):c.1568G>A (p.Arg523Gln) rs756911102
NM_152468.5(TMC8):c.157C>T (p.Arg53Trp) rs1417544539
NM_152468.5(TMC8):c.1594TTC[2] (p.Phe534del) rs1176579021
NM_152468.5(TMC8):c.1667T>A (p.Ile556Asn) rs1019271604
NM_152468.5(TMC8):c.1681G>C (p.Asp561His)
NM_152468.5(TMC8):c.1700A>G (p.Asn567Ser) rs2075296638
NM_152468.5(TMC8):c.1708G>T (p.Ala570Ser) rs1225829294
NM_152468.5(TMC8):c.1727C>T (p.Pro576Leu) rs767967741
NM_152468.5(TMC8):c.1791C>G (p.His597Gln)
NM_152468.5(TMC8):c.1793C>A (p.Ala598Asp) rs137975524
NM_152468.5(TMC8):c.1810C>T (p.Leu604Phe) rs775981986
NM_152468.5(TMC8):c.1853C>A (p.Thr618Asn) rs2075312611
NM_152468.5(TMC8):c.1883T>C (p.Leu628Pro) rs2145722630
NM_152468.5(TMC8):c.1886G>A (p.Arg629Gln) rs369861947
NM_152468.5(TMC8):c.1912G>A (p.Glu638Lys) rs373080751
NM_152468.5(TMC8):c.193C>T (p.Arg65Trp) rs2074996382
NM_152468.5(TMC8):c.1952C>T (p.Pro651Leu) rs2510833019
NM_152468.5(TMC8):c.1994C>T (p.Ala665Val)
NM_152468.5(TMC8):c.2066C>T (p.Pro689Leu)
NM_152468.5(TMC8):c.209G>A (p.Arg70Gln) rs2145576595
NM_152468.5(TMC8):c.2104C>T (p.Arg702Cys) rs1461595373
NM_152468.5(TMC8):c.2105G>A (p.Arg702His) rs2075363469
NM_152468.5(TMC8):c.2143G>T (p.Ala715Ser) rs1274382468
NM_152468.5(TMC8):c.2147G>A (p.Arg716His) rs2075364589
NM_152468.5(TMC8):c.215C>A (p.Thr72Lys) rs2074997230
NM_152468.5(TMC8):c.271T>C (p.Trp91Arg) rs2145578233
NM_152468.5(TMC8):c.277G>C (p.Gly93Arg) rs954490437
NM_152468.5(TMC8):c.2TGC[4] (p.Leu3_Pro4insLeu) rs1259899112
NM_152468.5(TMC8):c.319C>T (p.Arg107Trp) rs1248372306
NM_152468.5(TMC8):c.31C>G (p.Arg11Gly) rs1222145664
NM_152468.5(TMC8):c.320G>A (p.Arg107Gln) rs759253214
NM_152468.5(TMC8):c.323C>G (p.Ser108Cys)
NM_152468.5(TMC8):c.326A>T (p.Tyr109Phe) rs748223948
NM_152468.5(TMC8):c.34G>A (p.Ala12Thr) rs2510742023
NM_152468.5(TMC8):c.371T>C (p.Leu124Pro) rs2510756158
NM_152468.5(TMC8):c.38_40dup (p.Pro13_Gly14insAla)
NM_152468.5(TMC8):c.391G>C (p.Val131Leu) rs144981818
NM_152468.5(TMC8):c.411G>C (p.Trp137Cys) rs2510756219
NM_152468.5(TMC8):c.428C>T (p.Pro143Leu) rs2145599140
NM_152468.5(TMC8):c.433C>T (p.Pro145Ser) rs2510756280
NM_152468.5(TMC8):c.449C>T (p.Thr150Ile) rs1001723568
NM_152468.5(TMC8):c.47_48insCTG (p.Pro16_Glu17insTrp) rs1568011483
NM_152468.5(TMC8):c.505C>A (p.Gln169Lys) rs2145611174
NM_152468.5(TMC8):c.531+5G>A rs1568015382
NM_152468.5(TMC8):c.533C>G (p.Ala178Gly) rs138940132
NM_152468.5(TMC8):c.537C>G (p.Phe179Leu) rs748873052
NM_152468.5(TMC8):c.557A>G (p.Tyr186Cys) rs778599392
NM_152468.5(TMC8):c.560G>A (p.Gly187Asp) rs2510772347
NM_152468.5(TMC8):c.56A>T (p.Glu19Val) rs2510742170
NM_152468.5(TMC8):c.592G>C (p.Val198Leu) rs138026813
NM_152468.5(TMC8):c.602T>C (p.Ile201Thr) rs781390676
NM_152468.5(TMC8):c.616C>G (p.Leu206Val) rs759778569
NM_152468.5(TMC8):c.622_642dup (p.Leu214_Leu215insSerProLeuAlaCysLeuLeu) rs2510772527
NM_152468.5(TMC8):c.668+5_668+6delinsAC rs1568016780
NM_152468.5(TMC8):c.669G>T (p.Arg223=) rs2075127443
NM_152468.5(TMC8):c.704G>C (p.Gly235Ala) rs2510780085
NM_152468.5(TMC8):c.70G>A (p.Ala24Thr) rs2074972673
NM_152468.5(TMC8):c.719C>T (p.Ala240Val) rs757640069
NM_152468.5(TMC8):c.724C>G (p.Leu242Val) rs2145644826
NM_152468.5(TMC8):c.736G>C (p.Val246Leu) rs373643486
NM_152468.5(TMC8):c.748T>C (p.Trp250Arg) rs2145645141
NM_152468.5(TMC8):c.772G>A (p.Glu258Lys) rs2075131794
NM_152468.5(TMC8):c.778G>A (p.Ala260Thr)
NM_152468.5(TMC8):c.811T>A (p.Phe271Ile)
NM_152468.5(TMC8):c.817-6G>A rs377044337
NM_152468.5(TMC8):c.835C>G (p.Arg279Gly) rs767535431
NM_152468.5(TMC8):c.836G>A (p.Arg279His) rs372510006
NM_152468.5(TMC8):c.859C>G (p.Gln287Glu) rs2510788932
NM_152468.5(TMC8):c.875C>A (p.Thr292Lys) rs140623039
NM_152468.5(TMC8):c.883C>G (p.Arg295Gly) rs760798878
NM_152468.5(TMC8):c.883C>T (p.Arg295Cys)
NM_152468.5(TMC8):c.890T>C (p.Leu297Pro) rs2075164494
NM_152468.5(TMC8):c.899T>A (p.Leu300Gln) rs2145662736
NM_152468.5(TMC8):c.902G>C (p.Arg301Pro) rs553175400
NM_152468.5(TMC8):c.919G>A (p.Gly307Arg)
NM_152468.5(TMC8):c.931G>T (p.Val311Phe) rs1277572212
NM_152468.5(TMC8):c.941T>C (p.Ile314Thr) rs2075166863
NM_152468.5(TMC8):c.949A>G (p.Ile317Val) rs1179647988
NM_152468.5(TMC8):c.95C>T (p.Ser32Phe) rs1217529235
NM_152468.5(TMC8):c.966G>T (p.Lys322Asn) rs2075167796
NM_152468.5(TMC8):c.976G>C (p.Asp326His) rs2145663991
NM_152468.5(TMC8):c.987+9C>T rs543909170

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