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
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|
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=)
|
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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
|
|