ClinVar Miner

List of variants in gene TMC6 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 639
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HGVS dbSNP gnomAD frequency
NM_001127198.5(TMC6):c.1082+5T>C rs2613522 0.39238
NM_001127198.5(TMC6):c.373T>C (p.Trp125Arg) rs2748427 0.29034
NM_001127198.5(TMC6):c.457C>T (p.Leu153Phe) rs12449858 0.09127
NM_001127198.5(TMC6):c.1083-4C>G rs2057188 0.07968
NM_001127198.5(TMC6):c.1716-6del rs3841687 0.05439
NM_001127198.5(TMC6):c.2021+11C>T rs143140501 0.02510
NM_001127198.5(TMC6):c.859G>A (p.Val287Ile) rs8078238 0.01692
NM_001127198.5(TMC6):c.1482C>T (p.Ala494=) rs61739261 0.01419
NM_001127198.5(TMC6):c.2355-4G>A rs79153946 0.01119
NM_001127198.5(TMC6):c.1228-8G>A rs150703149 0.00990
NM_001127198.5(TMC6):c.1505C>T (p.Pro502Leu) rs75400929 0.00763
NM_001127198.5(TMC6):c.1471C>T (p.Arg491Cys) rs114853749 0.00494
NM_001127198.5(TMC6):c.1276G>A (p.Gly426Arg) rs61744921 0.00430
NM_001127198.5(TMC6):c.181+6C>T rs186208897 0.00362
NM_001127198.5(TMC6):c.891+17A>G rs201082179 0.00353
NM_001127198.5(TMC6):c.838G>A (p.Ala280Thr) rs146371375 0.00335
NM_001127198.5(TMC6):c.1139C>T (p.Ala380Val) rs147856997 0.00308
NM_001127198.5(TMC6):c.393C>T (p.Tyr131=) rs143883680 0.00290
NM_001127198.5(TMC6):c.2022-14G>A rs188155233 0.00270
NM_001127198.5(TMC6):c.1536-4G>A rs117553598 0.00265
NM_001127198.5(TMC6):c.1592G>A (p.Arg531His) rs146998467 0.00178
NM_001127198.5(TMC6):c.858C>T (p.Pro286=) rs199827221 0.00159
NM_001127198.5(TMC6):c.1748G>A (p.Arg583Gln) rs147815166 0.00143
NM_001127198.5(TMC6):c.2384C>T (p.Pro795Leu) rs140852551 0.00140
NM_001127198.5(TMC6):c.315G>A (p.Thr105=) rs139557408 0.00125
NM_001127198.5(TMC6):c.2354+10C>T rs199765733 0.00121
NM_001127198.5(TMC6):c.986C>T (p.Thr329Ile) rs143662903 0.00121
NM_001127198.5(TMC6):c.272-16C>G rs369244849 0.00091
NM_001127198.5(TMC6):c.369C>T (p.Ser123=) rs142758270 0.00064
NM_001127198.5(TMC6):c.846G>A (p.Pro282=) rs375656448 0.00061
NM_001127198.5(TMC6):c.890C>T (p.Ala297Val) rs199717203 0.00058
NM_001127198.5(TMC6):c.1842C>T (p.Pro614=) rs150820026 0.00055
NM_001127198.5(TMC6):c.1536-5C>T rs201780305 0.00051
NM_001127198.5(TMC6):c.1237G>C (p.Ala413Pro) rs555453763 0.00047
NM_001127198.5(TMC6):c.2355-9T>C rs78046548 0.00047
NM_001127198.5(TMC6):c.1672G>A (p.Val558Ile) rs199724291 0.00045
NM_001127198.5(TMC6):c.536+14del rs544848558 0.00045
NM_001127198.5(TMC6):c.941C>T (p.Thr314Met) rs151028330 0.00045
NM_001127198.5(TMC6):c.317T>C (p.Val106Ala) rs147389770 0.00044
NM_001127198.5(TMC6):c.847G>A (p.Gly283Ser) rs201267987 0.00044
NM_001127198.5(TMC6):c.2172T>C (p.Phe724=) rs139010324 0.00040
NM_001127198.5(TMC6):c.2378C>T (p.Ala793Val) rs138958849 0.00040
NM_001127198.5(TMC6):c.759G>C (p.Lys253Asn) rs554669051 0.00036
NM_001127198.5(TMC6):c.634-4G>A rs376851783 0.00035
NM_001127198.5(TMC6):c.1347C>T (p.Ala449=) rs142253928 0.00034
NM_001127198.5(TMC6):c.687G>A (p.Pro229=) rs369185930 0.00034
NM_001127198.5(TMC6):c.969G>A (p.Leu323=) rs139035008 0.00029
NM_001127198.5(TMC6):c.481C>T (p.Arg161Trp) rs145774728 0.00028
NM_001127198.5(TMC6):c.666C>T (p.Ser222=) rs371379212 0.00026
NM_001127198.5(TMC6):c.386G>A (p.Arg129His) rs367594085 0.00025
NM_001127198.5(TMC6):c.1715+17C>T rs375990147 0.00024
NM_001127198.5(TMC6):c.1992C>T (p.Ala664=) rs369452848 0.00024
NM_001127198.5(TMC6):c.2355-8T>C rs200477839 0.00022
NM_001127198.5(TMC6):c.1071C>T (p.Thr357=) rs147648259 0.00021
NM_001127198.5(TMC6):c.1746G>A (p.Arg582=) rs370625898 0.00021
NM_001127198.5(TMC6):c.1146C>T (p.Thr382=) rs3818144 0.00020
NM_001127198.5(TMC6):c.135G>A (p.Thr45=) rs150974387 0.00019
NM_001127198.5(TMC6):c.2230C>T (p.Arg744Trp) rs564531122 0.00019
NM_001127198.5(TMC6):c.129G>C (p.Gln43His) rs371802601 0.00017
NM_001127198.5(TMC6):c.1334C>T (p.Ala445Val) rs148585370 0.00016
NM_001127198.5(TMC6):c.2199-20C>T rs376036264 0.00016
NM_001127198.5(TMC6):c.310C>T (p.Arg104Cys) rs117065924 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.1384-11C>T rs188505445 0.00014
NM_001127198.5(TMC6):c.1754C>T (p.Pro585Leu) rs200495626 0.00014
NM_001127198.5(TMC6):c.1509A>G (p.Val503=) rs74950907 0.00013
NM_001127198.5(TMC6):c.227C>T (p.Thr76Met) rs866058450 0.00013
NM_001127198.5(TMC6):c.954G>A (p.Pro318=) rs201966081 0.00013
NM_001127198.5(TMC6):c.536+12C>T rs528902960 0.00012
NM_001127198.5(TMC6):c.1332C>T (p.Thr444=) rs373324506 0.00011
NM_001127198.5(TMC6):c.2022-1G>C rs202217062 0.00011
NM_001127198.5(TMC6):c.2325C>T (p.Tyr775=) rs370394664 0.00011
NM_001127198.5(TMC6):c.2359G>A (p.Gly787Arg) rs769161987 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.414G>A (p.Thr138=) rs778886513 0.00011
NM_001127198.5(TMC6):c.989C>T (p.Pro330Leu) rs1402737637 0.00011
NM_001127198.5(TMC6):c.1918C>T (p.Arg640Cys) rs372881492 0.00010
NM_001127198.5(TMC6):c.686C>T (p.Pro229Leu) rs749326103 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.2162A>C (p.Asn721Thr) rs781552554 0.00009
NM_001127198.5(TMC6):c.2354G>C (p.Arg785Thr) rs763777731 0.00009
NM_001127198.5(TMC6):c.271+7G>A rs371112328 0.00009
NM_001127198.5(TMC6):c.413C>T (p.Thr138Met) rs553985699 0.00009
NM_001127198.5(TMC6):c.48G>A (p.Gly16=) rs199831098 0.00009
NM_001127198.5(TMC6):c.1292C>T (p.Ala431Val) rs200760468 0.00008
NM_001127198.5(TMC6):c.1368G>A (p.Ser456=) rs781005432 0.00008
NM_001127198.5(TMC6):c.825C>T (p.Val275=) rs372486202 0.00008
NM_001127198.5(TMC6):c.1856T>A (p.Ile619Asn) rs1338150971 0.00007
NM_001127198.5(TMC6):c.2275A>G (p.Asn759Asp) rs768627239 0.00007
NM_001127198.5(TMC6):c.2354+20T>C rs372511568 0.00007
NM_001127198.5(TMC6):c.1344C>T (p.Cys448=) rs146404867 0.00006
NM_001127198.5(TMC6):c.180A>C (p.Thr60=) rs750150319 0.00006
NM_001127198.5(TMC6):c.1888-18C>T rs200067690 0.00006
NM_001127198.5(TMC6):c.2079C>T (p.Ala693=) rs756312475 0.00006
NM_001127198.5(TMC6):c.2198+9C>T rs201758709 0.00006
NM_001127198.5(TMC6):c.2280G>C (p.Glu760Asp) rs748630526 0.00006
NM_001127198.5(TMC6):c.288C>T (p.Ala96=) rs765510635 0.00006
NM_001127198.5(TMC6):c.712G>A (p.Gly238Arg) rs185225783 0.00006
NM_001127198.5(TMC6):c.732C>T (p.Ser244=) rs368193907 0.00006
NM_001127198.5(TMC6):c.73T>C (p.Tyr25His) rs765966901 0.00006
NM_001127198.5(TMC6):c.823G>T (p.Val275Phe) rs138860970 0.00006
NM_001127198.5(TMC6):c.84C>T (p.Ser28=) rs769381609 0.00006
NM_001127198.5(TMC6):c.889G>A (p.Ala297Thr) rs750652637 0.00006
NM_001127198.5(TMC6):c.1443C>T (p.Leu481=) rs753893921 0.00005
NM_001127198.5(TMC6):c.1591C>T (p.Arg531Cys) rs139049167 0.00005
NM_001127198.5(TMC6):c.1716-9C>T rs200205731 0.00005
NM_001127198.5(TMC6):c.1916C>T (p.Pro639Leu) rs148239603 0.00005
NM_001127198.5(TMC6):c.364C>T (p.Arg122Cys) rs775694083 0.00005
NM_001127198.5(TMC6):c.526C>T (p.Arg176Cys) rs112743475 0.00005
NM_001127198.5(TMC6):c.706C>T (p.Arg236Cys) rs753272370 0.00005
NM_001127198.5(TMC6):c.1122C>T (p.Ser374=) rs111339661 0.00004
NM_001127198.5(TMC6):c.1175C>T (p.Thr392Met) rs765228601 0.00004
NM_001127198.5(TMC6):c.1176G>A (p.Thr392=) rs139523538 0.00004
NM_001127198.5(TMC6):c.1228-9C>T rs538258694 0.00004
NM_001127198.5(TMC6):c.1298T>C (p.Val433Ala) rs954564790 0.00004
NM_001127198.5(TMC6):c.1459C>T (p.Pro487Ser) rs200099536 0.00004
NM_001127198.5(TMC6):c.1506G>A (p.Pro502=) rs752663338 0.00004
NM_001127198.5(TMC6):c.1535+10C>T rs546888861 0.00004
NM_001127198.5(TMC6):c.1536-17C>T rs748419745 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.1814T>C (p.Leu605Pro) rs764741111 0.00004
NM_001127198.5(TMC6):c.1888-13C>G rs758762200 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.228G>A (p.Thr76=) rs368129497 0.00004
NM_001127198.5(TMC6):c.2299T>C (p.Leu767=) rs778567720 0.00004
NM_001127198.5(TMC6):c.2354+18G>C rs769832479 0.00004
NM_001127198.5(TMC6):c.477A>C (p.Ala159=) rs111993532 0.00004
NM_001127198.5(TMC6):c.696C>T (p.Tyr232=) rs375113408 0.00004
NM_001127198.5(TMC6):c.922G>A (p.Gly308Ser) rs752806660 0.00004
NM_001127198.5(TMC6):c.1240G>A (p.Glu414Lys) rs536179551 0.00003
NM_001127198.5(TMC6):c.134C>T (p.Thr45Met) rs746048217 0.00003
NM_001127198.5(TMC6):c.1383+10dup rs1555655088 0.00003
NM_001127198.5(TMC6):c.1493C>T (p.Pro498Leu) rs772074105 0.00003
NM_001127198.5(TMC6):c.1521C>T (p.Tyr507=) rs552965413 0.00003
NM_001127198.5(TMC6):c.1742G>C (p.Arg581Thr) rs764555364 0.00003
NM_001127198.5(TMC6):c.1829C>T (p.Ser610Leu) rs1334699503 0.00003
NM_001127198.5(TMC6):c.2010C>T (p.Tyr670=) rs144712080 0.00003
NM_001127198.5(TMC6):c.2014G>A (p.Val672Ile) rs760800225 0.00003
NM_001127198.5(TMC6):c.2022-16T>A rs757038262 0.00003
NM_001127198.5(TMC6):c.2354+11G>A rs775536058 0.00003
NM_001127198.5(TMC6):c.2355-7C>T rs761893025 0.00003
NM_001127198.5(TMC6):c.2383C>T (p.Pro795Ser) rs755596766 0.00003
NM_001127198.5(TMC6):c.333G>A (p.Arg111=) rs371892251 0.00003
NM_001127198.5(TMC6):c.351C>T (p.Leu117=) rs545056582 0.00003
NM_001127198.5(TMC6):c.370G>A (p.Ala124Thr) rs759925295 0.00003
NM_001127198.5(TMC6):c.532C>T (p.Leu178=) rs199607800 0.00003
NM_001127198.5(TMC6):c.536+13G>A rs560122149 0.00003
NM_001127198.5(TMC6):c.55G>T (p.Gly19Cys) rs1236303263 0.00003
NM_001127198.5(TMC6):c.57-4G>A rs757768193 0.00003
NM_001127198.5(TMC6):c.6C>T (p.Ala2=) rs748822086 0.00003
NM_001127198.5(TMC6):c.744C>A (p.Tyr248Ter) rs121908329 0.00003
NM_001127198.5(TMC6):c.1013A>G (p.Asn338Ser) rs760333391 0.00002
NM_001127198.5(TMC6):c.1044C>G (p.Gly348=) rs749106566 0.00002
NM_001127198.5(TMC6):c.1098C>T (p.Phe366=) rs767211384 0.00002
NM_001127198.5(TMC6):c.1338G>A (p.Leu446=) rs1272445736 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.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.1843G>A (p.Ala615Thr) rs149875354 0.00002
NM_001127198.5(TMC6):c.1888-6C>T rs753497031 0.00002
NM_001127198.5(TMC6):c.1893C>A (p.Ser631Arg) rs777551337 0.00002
NM_001127198.5(TMC6):c.1921C>T (p.Arg641Trp) rs139050383 0.00002
NM_001127198.5(TMC6):c.1962G>T (p.Thr654=) rs140188188 0.00002
NM_001127198.5(TMC6):c.2053C>T (p.Arg685Trp) rs555577776 0.00002
NM_001127198.5(TMC6):c.2074G>A (p.Glu692Lys) rs753605181 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.390G>A (p.Leu130=) rs374895971 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.691C>T (p.Arg231Cys) rs566431890 0.00002
NM_001127198.5(TMC6):c.75T>C (p.Tyr25=) rs149732983 0.00002
NM_001127198.5(TMC6):c.826G>A (p.Ala276Thr) rs201290210 0.00002
NM_001127198.5(TMC6):c.909C>T (p.Thr303=) rs554914997 0.00002
NM_001127198.5(TMC6):c.94G>A (p.Asp32Asn) rs139636418 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.1137C>T (p.His379=) rs747182769 0.00001
NM_001127198.5(TMC6):c.116A>G (p.Gln39Arg) rs974988254 0.00001
NM_001127198.5(TMC6):c.1177C>T (p.Gln393Ter) rs776505795 0.00001
NM_001127198.5(TMC6):c.1184G>A (p.Arg395Gln) rs571643180 0.00001
NM_001127198.5(TMC6):c.1252C>T (p.Arg418Trp) rs567045355 0.00001
NM_001127198.5(TMC6):c.1261C>A (p.Pro421Thr) rs1393120573 0.00001
NM_001127198.5(TMC6):c.1269C>T (p.Ser423=) rs768939571 0.00001
NM_001127198.5(TMC6):c.1348G>A (p.Val450Met) rs138918101 0.00001
NM_001127198.5(TMC6):c.1383+10T>G rs1292409538 0.00001
NM_001127198.5(TMC6):c.1384-5T>C rs1352176419 0.00001
NM_001127198.5(TMC6):c.1384-9C>T rs1224027213 0.00001
NM_001127198.5(TMC6):c.1456G>A (p.Ala486Thr) rs368245596 0.00001
NM_001127198.5(TMC6):c.1472G>A (p.Arg491His) rs764901750 0.00001
NM_001127198.5(TMC6):c.1477C>T (p.Leu493=) rs1366602184 0.00001
NM_001127198.5(TMC6):c.1483G>A (p.Ala495Thr) rs772019840 0.00001
NM_001127198.5(TMC6):c.150G>A (p.Leu50=) rs756590153 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.1530C>T (p.Ile510=) rs376404481 0.00001
NM_001127198.5(TMC6):c.1536-10C>T rs758762407 0.00001
NM_001127198.5(TMC6):c.156G>A (p.Leu52=) rs201282273 0.00001
NM_001127198.5(TMC6):c.1596G>A (p.Arg532=) rs776900537 0.00001
NM_001127198.5(TMC6):c.1608G>A (p.Leu536=) rs141464477 0.00001
NM_001127198.5(TMC6):c.1652G>A (p.Arg551Gln) rs537200296 0.00001
NM_001127198.5(TMC6):c.1692G>C (p.Thr564=) rs772083222 0.00001
NM_001127198.5(TMC6):c.170G>A (p.Arg57Gln) rs1036125960 0.00001
NM_001127198.5(TMC6):c.1715+18G>A rs778830451 0.00001
NM_001127198.5(TMC6):c.1716-8G>A rs781091487 0.00001
NM_001127198.5(TMC6):c.1772G>A (p.Arg591Gln) rs558312063 0.00001
NM_001127198.5(TMC6):c.1816G>C (p.Gly606Arg) rs1326018151 0.00001
NM_001127198.5(TMC6):c.1830G>A (p.Ser610=) rs761394043 0.00001
NM_001127198.5(TMC6):c.1836C>T (p.Leu612=) rs764153856 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.1888-17G>A rs377114971 0.00001
NM_001127198.5(TMC6):c.190C>T (p.Gln64Ter) rs1296234074 0.00001
NM_001127198.5(TMC6):c.1917G>A (p.Pro639=) rs762795813 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.2011G>A (p.Ala671Thr) rs1415810329 0.00001
NM_001127198.5(TMC6):c.2022-3C>T rs1363065689 0.00001
NM_001127198.5(TMC6):c.2022-4C>A rs1390522522 0.00001
NM_001127198.5(TMC6):c.2022-5C>T rs540761329 0.00001
NM_001127198.5(TMC6):c.2033C>T (p.Ser678Leu) rs749657465 0.00001
NM_001127198.5(TMC6):c.2034G>C (p.Ser678=) rs1264475530 0.00001
NM_001127198.5(TMC6):c.2054G>A (p.Arg685Gln) rs779661812 0.00001
NM_001127198.5(TMC6):c.2073C>T (p.Tyr691=) rs200294759 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.210C>T (p.Pro70=) rs759388651 0.00001
NM_001127198.5(TMC6):c.2199-14C>T rs372720368 0.00001
NM_001127198.5(TMC6):c.2199-4G>A rs533466569 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.2254C>T (p.Leu752=) rs765889967 0.00001
NM_001127198.5(TMC6):c.2255T>C (p.Leu752Pro) rs200842857 0.00001
NM_001127198.5(TMC6):c.2263G>A (p.Glu755Lys) rs1467967272 0.00001
NM_001127198.5(TMC6):c.2278-6T>G rs1225177306 0.00001
NM_001127198.5(TMC6):c.2326G>A (p.Glu776Lys) rs760748540 0.00001
NM_001127198.5(TMC6):c.2354+13G>A rs1450507055 0.00001
NM_001127198.5(TMC6):c.2355-1G>C rs1268020368 0.00001
NM_001127198.5(TMC6):c.2367C>T (p.Thr789=) rs747353503 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.2407del (p.Gln803fs) rs1408101229 0.00001
NM_001127198.5(TMC6):c.271+16A>G rs1426290100 0.00001
NM_001127198.5(TMC6):c.272-6C>T rs1192215435 0.00001
NM_001127198.5(TMC6):c.280C>T (p.Arg94Ter) rs121908327 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.312C>T (p.Arg104=) rs747061600 0.00001
NM_001127198.5(TMC6):c.316G>A (p.Val106Met) rs745334447 0.00001
NM_001127198.5(TMC6):c.326G>A (p.Arg109Gln) rs755826726 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.420G>A (p.Leu140=) rs1166251158 0.00001
NM_001127198.5(TMC6):c.430+17T>C rs760918274 0.00001
NM_001127198.5(TMC6):c.430+6T>C rs753678919 0.00001
NM_001127198.5(TMC6):c.431-10C>T rs778781842 0.00001
NM_001127198.5(TMC6):c.431-11C>T rs745349925 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.496C>T (p.Arg166Cys) rs1324634722 0.00001
NM_001127198.5(TMC6):c.512G>A (p.Ser171Asn) rs775043003 0.00001
NM_001127198.5(TMC6):c.513C>T (p.Ser171=) rs150547279 0.00001
NM_001127198.5(TMC6):c.534G>A (p.Leu178=) rs1424809660 0.00001
NM_001127198.5(TMC6):c.56+7G>A rs763009933 0.00001
NM_001127198.5(TMC6):c.57-17dup rs763325937 0.00001
NM_001127198.5(TMC6):c.62G>A (p.Gly21Asp) rs764574773 0.00001
NM_001127198.5(TMC6):c.634-5C>T rs370071234 0.00001
NM_001127198.5(TMC6):c.635C>T (p.Ala212Val) rs548352171 0.00001
NM_001127198.5(TMC6):c.646C>T (p.Leu216=) rs1343201208 0.00001
NM_001127198.5(TMC6):c.656C>T (p.Ala219Val) rs763931900 0.00001
NM_001127198.5(TMC6):c.657G>A (p.Ala219=) rs958325736 0.00001
NM_001127198.5(TMC6):c.672G>A (p.Leu224=) rs1381480736 0.00001
NM_001127198.5(TMC6):c.692G>A (p.Arg231His) rs748531251 0.00001
NM_001127198.5(TMC6):c.723C>T (p.Phe241=) rs771048716 0.00001
NM_001127198.5(TMC6):c.758A>G (p.Lys253Arg) rs781759484 0.00001
NM_001127198.5(TMC6):c.774C>T (p.Phe258=) rs756800994 0.00001
NM_001127198.5(TMC6):c.780C>T (p.Ala260=) rs1458785435 0.00001
NM_001127198.5(TMC6):c.790C>T (p.Leu264=) rs1450351053 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.936C>T (p.Asn312=) rs774723223 0.00001
NM_001127198.5(TMC6):c.947A>T (p.Asn316Ile) rs746517168 0.00001
NC_000017.10:g.(?_76109229)_(76115493_?)dup
NC_000017.11:g.78121677_78121714del
NM_001127198.5(TMC6):c.1018C>T (p.Pro340Ser)
NM_001127198.5(TMC6):c.1021C>T (p.Leu341=) rs1048105388
NM_001127198.5(TMC6):c.1031T>C (p.Leu344Pro)
NM_001127198.5(TMC6):c.1047G>A (p.Val349=) rs2145325403
NM_001127198.5(TMC6):c.1053_1056del (p.Phe351fs)
NM_001127198.5(TMC6):c.1072C>T (p.Leu358=)
NM_001127198.5(TMC6):c.1077G>A (p.Val359=)
NM_001127198.5(TMC6):c.1082+8C>T
NM_001127198.5(TMC6):c.1083-9T>G rs2145264579
NM_001127198.5(TMC6):c.1092C>T (p.His364=)
NM_001127198.5(TMC6):c.1097T>G (p.Phe366Cys) rs1222873672
NM_001127198.5(TMC6):c.1100G>A (p.Gly367Glu)
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.1112G>A (p.Arg371Gln)
NM_001127198.5(TMC6):c.1138G>A (p.Ala380Thr)
NM_001127198.5(TMC6):c.1146dup (p.Val383fs) rs1567995497
NM_001127198.5(TMC6):c.1159T>C (p.Trp387Arg)
NM_001127198.5(TMC6):c.115C>T (p.Gln39Ter)
NM_001127198.5(TMC6):c.1162del (p.Asp388fs)
NM_001127198.5(TMC6):c.1167C>T (p.Tyr389=)
NM_001127198.5(TMC6):c.1188C>T (p.Ala396=) rs745973954
NM_001127198.5(TMC6):c.1228-15C>T
NM_001127198.5(TMC6):c.1230G>T (p.Glu410Asp) rs2145227111
NM_001127198.5(TMC6):c.1239C>T (p.Ala413=)
NM_001127198.5(TMC6):c.1241A>G (p.Glu414Gly)
NM_001127198.5(TMC6):c.1247A>G (p.Gln416Arg) rs2074422566
NM_001127198.5(TMC6):c.1257C>T (p.His419=) rs1305591682
NM_001127198.5(TMC6):c.1270G>A (p.Val424Met)
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)
NM_001127198.5(TMC6):c.1293G>A (p.Ala431=) rs987312855
NM_001127198.5(TMC6):c.1293G>T (p.Ala431=)
NM_001127198.5(TMC6):c.1294G>A (p.Ala432Thr) rs2145225248
NM_001127198.5(TMC6):c.1295C>T (p.Ala432Val)
NM_001127198.5(TMC6):c.1297G>T (p.Val433Leu) rs1313115253
NM_001127198.5(TMC6):c.1308T>C (p.Leu436=)
NM_001127198.5(TMC6):c.1319T>G (p.Leu440Arg) rs1190848591
NM_001127198.5(TMC6):c.1324C>T (p.Leu442=)
NM_001127198.5(TMC6):c.1325dup (p.Thr444fs) rs1555655146
NM_001127198.5(TMC6):c.1329G>T (p.Gly443=)
NM_001127198.5(TMC6):c.1333G>C (p.Ala445Pro) rs750556964
NM_001127198.5(TMC6):c.1333G>T (p.Ala445Ser)
NM_001127198.5(TMC6):c.1335G>T (p.Ala445=)
NM_001127198.5(TMC6):c.1346C>T (p.Ala449Val)
NM_001127198.5(TMC6):c.1353C>T (p.Ala451=)
NM_001127198.5(TMC6):c.1354del (p.Val452fs)
NM_001127198.5(TMC6):c.1359C>T (p.His453=)
NM_001127198.5(TMC6):c.1360G>A (p.Val454Ile)
NM_001127198.5(TMC6):c.1365C>T (p.Phe455=) rs375342516
NM_001127198.5(TMC6):c.1367C>T (p.Ser456Leu)
NM_001127198.5(TMC6):c.1375A>G (p.Met459Val)
NM_001127198.5(TMC6):c.1383+11G>A rs562533482
NM_001127198.5(TMC6):c.1383+11G>C rs562533482
NM_001127198.5(TMC6):c.1383+11G>T
NM_001127198.5(TMC6):c.1383+16del rs778386990
NM_001127198.5(TMC6):c.1383+1G>A rs2074414994
NM_001127198.5(TMC6):c.1383+4C>T
NM_001127198.5(TMC6):c.1383+5G>A rs1187013001
NM_001127198.5(TMC6):c.1384-14C>T
NM_001127198.5(TMC6):c.1403A>G (p.Gln468Arg)
NM_001127198.5(TMC6):c.141G>A (p.Gln47=)
NM_001127198.5(TMC6):c.1422C>T (p.Val474=)
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)
NM_001127198.5(TMC6):c.1481_1482delinsGT (p.Ala494Gly)
NM_001127198.5(TMC6):c.1484C>G (p.Ala495Gly) rs1183083508
NM_001127198.5(TMC6):c.1485C>G (p.Ala495=) rs548965077
NM_001127198.5(TMC6):c.1494G>C (p.Pro498=)
NM_001127198.5(TMC6):c.1496A>G (p.His499Arg)
NM_001127198.5(TMC6):c.1497T>C (p.His499=) rs2145206731
NM_001127198.5(TMC6):c.1502C>A (p.Ser501Tyr) rs749573628
NM_001127198.5(TMC6):c.1503C>T (p.Ser501=)
NM_001127198.5(TMC6):c.150G>C (p.Leu50=)
NM_001127198.5(TMC6):c.1510C>T (p.Leu504=)
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.1535+11G>A
NM_001127198.5(TMC6):c.1535+11G>T
NM_001127198.5(TMC6):c.1535+6T>C
NM_001127198.5(TMC6):c.1535+9C>T
NM_001127198.5(TMC6):c.1536-11G>A rs367991714
NM_001127198.5(TMC6):c.1536-12C>T
NM_001127198.5(TMC6):c.1555G>A (p.Ala519Thr) rs1363866341
NM_001127198.5(TMC6):c.1566G>A (p.Gly522=)
NM_001127198.5(TMC6):c.1566G>T (p.Gly522=)
NM_001127198.5(TMC6):c.1575C>T (p.Cys525=) rs2145198203
NM_001127198.5(TMC6):c.1589G>C (p.Gly530Ala) rs1467601497
NM_001127198.5(TMC6):c.1602C>T (p.Gly534=)
NM_001127198.5(TMC6):c.1605C>A (p.Val535=) rs201479637
NM_001127198.5(TMC6):c.1605C>G (p.Val535=)
NM_001127198.5(TMC6):c.1671C>T (p.Phe557=)
NM_001127198.5(TMC6):c.1677_1679del (p.Met560del)
NM_001127198.5(TMC6):c.1687G>C (p.Asp563His) rs760833588
NM_001127198.5(TMC6):c.1691C>T (p.Thr564Met)
NM_001127198.5(TMC6):c.1698del (p.Phe566fs)
NM_001127198.5(TMC6):c.169C>T (p.Arg57Trp)
NM_001127198.5(TMC6):c.1702G>C (p.Glu568Gln) rs2074369239
NM_001127198.5(TMC6):c.1715+8G>A rs1262568463
NM_001127198.5(TMC6):c.1715+8G>T
NM_001127198.5(TMC6):c.1715+9del
NM_001127198.5(TMC6):c.1716-15G>A rs1380025338
NM_001127198.5(TMC6):c.1716-17G>A
NM_001127198.5(TMC6):c.1716-17G>C
NM_001127198.5(TMC6):c.1716-18C>T
NM_001127198.5(TMC6):c.1716-4G>T
NM_001127198.5(TMC6):c.1716-8G>C
NM_001127198.5(TMC6):c.1725C>T (p.Ser575=)
NM_001127198.5(TMC6):c.1726G>A (p.Glu576Lys)
NM_001127198.5(TMC6):c.1729A>G (p.Lys577Glu) rs1598844172
NM_001127198.5(TMC6):c.1747C>T (p.Arg583Trp)
NM_001127198.5(TMC6):c.1755G>A (p.Pro585=)
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.1795G>T (p.Gly599Trp)
NM_001127198.5(TMC6):c.17C>G (p.Ala6Gly) rs1364411602
NM_001127198.5(TMC6):c.181+11G>A
NM_001127198.5(TMC6):c.181+8C>A
NM_001127198.5(TMC6):c.1811+13T>G
NM_001127198.5(TMC6):c.1811+15C>T
NM_001127198.5(TMC6):c.1811+1G>A rs1567989416
NM_001127198.5(TMC6):c.1811+7G>T rs2074289948
NM_001127198.5(TMC6):c.1812-10C>G
NM_001127198.5(TMC6):c.1812-8C>T
NM_001127198.5(TMC6):c.1819G>A (p.Val607Met) rs1222522675
NM_001127198.5(TMC6):c.182-6T>C
NM_001127198.5(TMC6):c.1822C>T (p.Leu608Phe) rs1279716714
NM_001127198.5(TMC6):c.1840C>T (p.Pro614Ser)
NM_001127198.5(TMC6):c.1845C>T (p.Ala615=)
NM_001127198.5(TMC6):c.1846G>A (p.Val616Met)
NM_001127198.5(TMC6):c.1852A>T (p.Ile618Phe) rs1259542640
NM_001127198.5(TMC6):c.1863G>A (p.Leu621=)
NM_001127198.5(TMC6):c.1869C>T (p.Leu623=)
NM_001127198.5(TMC6):c.1882_1884AAG[1] (p.Lys629del) rs2145131223
NM_001127198.5(TMC6):c.1887+10_1887+34del
NM_001127198.5(TMC6):c.1887+16C>T rs756814867
NM_001127198.5(TMC6):c.1887+17C>T
NM_001127198.5(TMC6):c.1902C>T (p.Ala634=)
NM_001127198.5(TMC6):c.1914G>A (p.Ala638=)
NM_001127198.5(TMC6):c.1914G>C (p.Ala638=) rs751492239
NM_001127198.5(TMC6):c.1942_1943del (p.Met648fs) rs1458008918
NM_001127198.5(TMC6):c.1950C>G (p.Thr650=)
NM_001127198.5(TMC6):c.1950C>T (p.Thr650=) rs2613516
NM_001127198.5(TMC6):c.1972T>G (p.Phe658Val) rs1280636115
NM_001127198.5(TMC6):c.1976_1984dup (p.Pro659_Phe661dup) rs1567986944
NM_001127198.5(TMC6):c.1977C>T (p.Pro659=)
NM_001127198.5(TMC6):c.1978G>A (p.Ala660Thr)
NM_001127198.5(TMC6):c.1979C>T (p.Ala660Val)
NM_001127198.5(TMC6):c.1980C>T (p.Ala660=) rs1019287801
NM_001127198.5(TMC6):c.1985T>C (p.Leu662Pro)
NM_001127198.5(TMC6):c.1988G>A (p.Gly663Asp)
NM_001127198.5(TMC6):c.1989C>T (p.Gly663=)
NM_001127198.5(TMC6):c.1990G>A (p.Ala664Thr)
NM_001127198.5(TMC6):c.1A>G (p.Met1Val) rs1598878219
NM_001127198.5(TMC6):c.2013C>A (p.Ala671=) rs764142885
NM_001127198.5(TMC6):c.2014G>C (p.Val672Leu)
NM_001127198.5(TMC6):c.201C>T (p.Leu67=)
NM_001127198.5(TMC6):c.2021+10G>A
NM_001127198.5(TMC6):c.2021+12G>A
NM_001127198.5(TMC6):c.2021+14G>A
NM_001127198.5(TMC6):c.2029C>T (p.Pro677Ser)
NM_001127198.5(TMC6):c.2033C>A (p.Ser678Ter) rs749657465
NM_001127198.5(TMC6):c.2037C>T (p.Ser679=)
NM_001127198.5(TMC6):c.2043C>T (p.Cys681=)
NM_001127198.5(TMC6):c.205C>G (p.Arg69Gly) rs529531268
NM_001127198.5(TMC6):c.205C>T (p.Arg69Trp)
NM_001127198.5(TMC6):c.2067C>T (p.Thr689=)
NM_001127198.5(TMC6):c.2078C>A (p.Ala693Asp) rs1195937550
NM_001127198.5(TMC6):c.2080G>A (p.Gly694Ser)
NM_001127198.5(TMC6):c.208C>T (p.Pro70Ser) rs1159157986
NM_001127198.5(TMC6):c.2095C>G (p.Arg699Gly)
NM_001127198.5(TMC6):c.2095C>T (p.Arg699Cys)
NM_001127198.5(TMC6):c.2109G>A (p.Ala703=)
NM_001127198.5(TMC6):c.2117C>T (p.Pro706Leu)
NM_001127198.5(TMC6):c.2119A>C (p.Arg707=)
NM_001127198.5(TMC6):c.211G>A (p.Glu71Lys) rs1181277338
NM_001127198.5(TMC6):c.2126C>T (p.Ser709Phe)
NM_001127198.5(TMC6):c.2127C>T (p.Ser709=)
NM_001127198.5(TMC6):c.213G>A (p.Glu71=) rs2145415894
NM_001127198.5(TMC6):c.2147G>T (p.Arg716Leu) rs149378643
NM_001127198.5(TMC6):c.2165C>G (p.Thr722Ser)
NM_001127198.5(TMC6):c.2178C>T (p.Phe726=) rs1427185110
NM_001127198.5(TMC6):c.2182G>A (p.Val728Met) rs2074185487
NM_001127198.5(TMC6):c.2184G>T (p.Val728=) rs2145069524
NM_001127198.5(TMC6):c.2198+16G>C
NM_001127198.5(TMC6):c.2198+16G>T
NM_001127198.5(TMC6):c.2199-11C>A rs2074176098
NM_001127198.5(TMC6):c.2199-11C>G
NM_001127198.5(TMC6):c.2199-14C>A
NM_001127198.5(TMC6):c.2199-19G>A
NM_001127198.5(TMC6):c.2199-20C>G
NM_001127198.5(TMC6):c.2199-5C>T rs370571978
NM_001127198.5(TMC6):c.2202C>T (p.Ala734=)
NM_001127198.5(TMC6):c.2203G>C (p.Val735Leu)
NM_001127198.5(TMC6):c.2211C>A (p.Tyr737Ter) rs758514260
NM_001127198.5(TMC6):c.2240G>A (p.Arg747His) rs754324709
NM_001127198.5(TMC6):c.2247C>T (p.Val749=)
NM_001127198.5(TMC6):c.225C>A (p.Ser75Arg)
NM_001127198.5(TMC6):c.2263_2264delinsTT (p.Glu755Leu)
NM_001127198.5(TMC6):c.2266C>T (p.Gln756Ter)
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.2277+11C>T
NM_001127198.5(TMC6):c.2277+9C>T
NM_001127198.5(TMC6):c.2278-8C>T
NM_001127198.5(TMC6):c.2280G>A (p.Glu760=)
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.2307C>T (p.Asn769=)
NM_001127198.5(TMC6):c.2325C>G (p.Tyr775Ter) rs370394664
NM_001127198.5(TMC6):c.2349G>T (p.Arg783Ser)
NM_001127198.5(TMC6):c.2351G>A (p.Ser784Asn)
NM_001127198.5(TMC6):c.2354+11G>C
NM_001127198.5(TMC6):c.2354+3G>T
NM_001127198.5(TMC6):c.2355-20G>A
NM_001127198.5(TMC6):c.2361G>A (p.Gly787=) rs968133755
NM_001127198.5(TMC6):c.2380G>A (p.Ala794Thr)
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.243C>T (p.Ile81=) rs777740333
NM_001127198.5(TMC6):c.262C>T (p.Arg88Cys)
NM_001127198.5(TMC6):c.263G>A (p.Arg88His)
NM_001127198.5(TMC6):c.265A>G (p.Thr89Ala) rs751985955
NM_001127198.5(TMC6):c.271+13C>G
NM_001127198.5(TMC6):c.271+16_271+21del
NM_001127198.5(TMC6):c.271+19C>T
NM_001127198.5(TMC6):c.272-29GGCCC[3] rs1263412231
NM_001127198.5(TMC6):c.272-4A>C
NM_001127198.5(TMC6):c.272-4A>G
NM_001127198.5(TMC6):c.272-7T>C rs1598873866
NM_001127198.5(TMC6):c.275G>A (p.Arg92His) rs1173031048
NM_001127198.5(TMC6):c.280C>A (p.Arg94=) rs121908327
NM_001127198.5(TMC6):c.28G>A (p.Asp10Asn)
NM_001127198.5(TMC6):c.294C>T (p.Ile98=) rs1598873738
NM_001127198.5(TMC6):c.306C>A (p.Tyr102Ter) rs371786754
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.351C>G (p.Leu117=)
NM_001127198.5(TMC6):c.352G>C (p.Gly118Arg) rs762117152
NM_001127198.5(TMC6):c.35C>T (p.Pro12Leu)
NM_001127198.5(TMC6):c.363C>T (p.Val121=)
NM_001127198.5(TMC6):c.365G>C (p.Arg122Pro) rs200579060
NM_001127198.5(TMC6):c.370G>C (p.Ala124Pro)
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+15A>G
NM_001127198.5(TMC6):c.430+5G>C rs2074675709
NM_001127198.5(TMC6):c.431-10_431-5del rs2074647678
NM_001127198.5(TMC6):c.431-15C>T
NM_001127198.5(TMC6):c.431-20C>T
NM_001127198.5(TMC6):c.431-4G>A rs760569150
NM_001127198.5(TMC6):c.431-5C>T
NM_001127198.5(TMC6):c.431-7C>T rs919029138
NM_001127198.5(TMC6):c.432G>T (p.Glu144Asp)
NM_001127198.5(TMC6):c.454G>A (p.Glu152Lys)
NM_001127198.5(TMC6):c.475G>A (p.Ala159Thr) rs571041354
NM_001127198.5(TMC6):c.480G>A (p.Gln160=) rs2145370917
NM_001127198.5(TMC6):c.485A>G (p.Asp162Gly)
NM_001127198.5(TMC6):c.487C>A (p.His163Asn)
NM_001127198.5(TMC6):c.498C>T (p.Arg166=)
NM_001127198.5(TMC6):c.507C>G (p.Pro169=)
NM_001127198.5(TMC6):c.52C>A (p.Gln18Lys) rs1568004262
NM_001127198.5(TMC6):c.536+12C>G rs528902960
NM_001127198.5(TMC6):c.536+16C>A
NM_001127198.5(TMC6):c.536+9C>A rs749194096
NM_001127198.5(TMC6):c.54G>A (p.Gln18=)
NM_001127198.5(TMC6):c.55G>A (p.Gly19Ser) rs1236303263
NM_001127198.5(TMC6):c.56+14G>A
NM_001127198.5(TMC6):c.56+6C>T
NM_001127198.5(TMC6):c.57-10C>T
NM_001127198.5(TMC6):c.57-15C>A rs2145424391
NM_001127198.5(TMC6):c.57-15C>G
NM_001127198.5(TMC6):c.57-17G>A rs369674592
NM_001127198.5(TMC6):c.57-18C>G
NM_001127198.5(TMC6):c.57-18C>T rs202180344
NM_001127198.5(TMC6):c.57-18dup rs771219760
NM_001127198.5(TMC6):c.57-19C>G
NM_001127198.5(TMC6):c.57-5_57-3del rs2145423679
NM_001127198.5(TMC6):c.57-6C>A
NM_001127198.5(TMC6):c.57C>T (p.Gly19=)
NM_001127198.5(TMC6):c.62G>T (p.Gly21Val)
NM_001127198.5(TMC6):c.660G>A (p.Leu220=)
NM_001127198.5(TMC6):c.662_673del (p.Leu221_Leu224del)
NM_001127198.5(TMC6):c.668C>T (p.Ala223Val) rs2074610790
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.697G>A (p.Ala233Thr)
NM_001127198.5(TMC6):c.702G>A (p.Leu234=)
NM_001127198.5(TMC6):c.704A>C (p.Lys235Thr) rs80354176
NM_001127198.5(TMC6):c.704A>G (p.Lys235Arg) rs80354176
NM_001127198.5(TMC6):c.711C>T (p.Ile237=)
NM_001127198.5(TMC6):c.711_715del (p.Ile237fs) rs2145350631
NM_001127198.5(TMC6):c.71C>T (p.Pro24Leu) rs2145423257
NM_001127198.5(TMC6):c.724G>A (p.Gly242Ser)
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=)
NM_001127198.5(TMC6):c.748C>T (p.Leu250Phe) rs2074604879
NM_001127198.5(TMC6):c.748_1082+56del rs1567997496
NM_001127198.5(TMC6):c.74A>G (p.Tyr25Cys) rs375590298
NM_001127198.5(TMC6):c.754C>T (p.Leu252Phe)
NM_001127198.5(TMC6):c.756C>G (p.Leu252=) rs2074604295
NM_001127198.5(TMC6):c.761C>A (p.Thr254Asn)
NM_001127198.5(TMC6):c.776A>G (p.Asn259Ser)
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.786G>A (p.Leu262=) rs752678320
NM_001127198.5(TMC6):c.791T>A (p.Leu264Gln) rs2145347840
NM_001127198.5(TMC6):c.798G>C (p.Leu266=)
NM_001127198.5(TMC6):c.82A>T (p.Ser28Cys)
NM_001127198.5(TMC6):c.831C>T (p.Phe277=)
NM_001127198.5(TMC6):c.837C>T (p.Pro279=)
NM_001127198.5(TMC6):c.846_855dup (p.Pro286fs)
NM_001127198.5(TMC6):c.876G>A (p.Glu292=)
NM_001127198.5(TMC6):c.891+12C>T
NM_001127198.5(TMC6):c.891+19T>A
NM_001127198.5(TMC6):c.892-2A>G rs769471844
NM_001127198.5(TMC6):c.892-2A>T rs769471844
NM_001127198.5(TMC6):c.892-3C>T rs2145330632
NM_001127198.5(TMC6):c.892-8T>C
NM_001127198.5(TMC6):c.894T>C (p.Gly298=)
NM_001127198.5(TMC6):c.919T>C (p.Tyr307His) rs2074574322
NM_001127198.5(TMC6):c.921C>T (p.Tyr307=)
NM_001127198.5(TMC6):c.942G>A (p.Thr314=)
NM_001127198.5(TMC6):c.954G>T (p.Pro318=) rs201966081
NM_001127198.5(TMC6):c.967del (p.Leu323fs) rs1392702424
NM_001127198.5(TMC6):c.982T>G (p.Cys328Gly) rs1446169271
NM_001127198.5(TMC6):c.983G>A (p.Cys328Tyr)
NM_001127198.5(TMC6):c.991A>G (p.Arg331Gly) rs2074569792
NM_001127198.5(TMC6):c.998G>T (p.Gly333Val) rs752101891

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