NM_138691.3(TMC1):c.1713C>T (p.Phe571=)
|
rs34532421
|
0.08866
|
NM_138691.3(TMC1):c.2130-234C>A
|
rs36032914
|
0.04035
|
NM_138691.3(TMC1):c.2130-279T>G
|
rs13297120
|
0.03953
|
NM_138691.3(TMC1):c.742-125T>A
|
rs141112557
|
0.02603
|
NM_138691.3(TMC1):c.-540C>T
|
rs112220638
|
0.02586
|
NM_138691.3(TMC1):c.1457T>C (p.Met486Thr)
|
rs17058153
|
0.01743
|
NM_138691.3(TMC1):c.1695+37A>T
|
rs753387796
|
0.01692
|
NM_138691.3(TMC1):c.1566+59C>A
|
rs55633682
|
0.01410
|
NM_138691.3(TMC1):c.1696-85C>G
|
rs79639106
|
0.01327
|
NM_138691.3(TMC1):c.1695+317C>T
|
rs555717292
|
0.01159
|
NM_138691.3(TMC1):c.*106G>C
|
rs79830675
|
0.01140
|
NM_138691.3(TMC1):c.741+167A>G
|
rs182466646
|
0.01005
|
NM_138691.3(TMC1):c.363-28A>G
|
rs77477610
|
0.00935
|
NM_138691.3(TMC1):c.*28A>C
|
rs151157872
|
0.00779
|
NM_138691.3(TMC1):c.363-26C>A
|
rs145181573
|
0.00723
|
NM_138691.3(TMC1):c.1225-190C>G
|
rs142519449
|
0.00671
|
NM_138691.3(TMC1):c.2129+33C>T
|
rs111810642
|
0.00648
|
NM_138691.3(TMC1):c.2129+197A>G
|
rs12005837
|
0.00611
|
NM_138691.3(TMC1):c.1404+49C>G
|
rs12003753
|
0.00610
|
NM_138691.3(TMC1):c.237-173A>G
|
rs137976727
|
0.00543
|
NM_138691.3(TMC1):c.1029+260G>T
|
rs112067652
|
0.00495
|
NM_138691.3(TMC1):c.1030-275T>A
|
rs76511258
|
0.00490
|
NM_138691.3(TMC1):c.1566+306G>A
|
rs113427480
|
0.00483
|
NM_138691.3(TMC1):c.16+207G>T
|
rs73647684
|
0.00480
|
NM_138691.3(TMC1):c.362+124C>T
|
rs1041642772
|
0.00476
|
NM_138691.3(TMC1):c.453+277A>C
|
rs115208433
|
0.00452
|
NM_138691.3(TMC1):c.1696-297T>C
|
rs115032599
|
0.00442
|
NM_138691.3(TMC1):c.2261-212A>G
|
rs115418614
|
0.00434
|
NM_138691.3(TMC1):c.16+196T>C
|
rs148612939
|
0.00411
|
NM_138691.3(TMC1):c.363-107G>A
|
rs143738360
|
0.00395
|
NM_138691.3(TMC1):c.237-44G>A
|
rs117344485
|
0.00383
|
NM_138691.3(TMC1):c.453+189G>A
|
rs141930290
|
0.00315
|
NM_138691.3(TMC1):c.1763+198T>C
|
rs76665233
|
0.00295
|
NM_138691.3(TMC1):c.2260+3_2260+5del
|
rs546307383
|
0.00281
|
NM_138691.3(TMC1):c.2004-44A>C
|
rs111781117
|
0.00268
|
NM_138691.3(TMC1):c.454-30C>T
|
rs199771068
|
0.00242
|
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu)
|
rs113342704
|
0.00073
|
NM_138691.3(TMC1):c.193A>G (p.Lys65Glu)
|
rs145098032
|
0.00062
|
NM_138691.3(TMC1):c.141T>A (p.Asp47Glu)
|
rs140388347
|
0.00061
|
NM_138691.3(TMC1):c.1566+8C>T
|
rs202184917
|
0.00059
|
NM_138691.3(TMC1):c.696C>T (p.Ala232=)
|
rs112843964
|
0.00047
|
NM_138691.3(TMC1):c.1602C>G (p.Thr534=)
|
rs111033462
|
0.00046
|
NM_138691.3(TMC1):c.1696-14T>C
|
rs377091685
|
0.00043
|
NM_138691.3(TMC1):c.135C>A (p.Thr45=)
|
rs111353632
|
0.00036
|
NM_138691.3(TMC1):c.1019T>C (p.Met340Thr)
|
rs111033464
|
0.00034
|
NM_138691.3(TMC1):c.1764-5T>C
|
rs373603119
|
0.00032
|
NM_138691.3(TMC1):c.735C>T (p.Asp245=)
|
rs143404572
|
0.00029
|
NM_138691.3(TMC1):c.1029+3_1029+4insT
|
rs756987759
|
0.00027
|
NM_138691.3(TMC1):c.703G>T (p.Ala235Ser)
|
rs200831684
|
0.00023
|
NM_138691.3(TMC1):c.-124T>C
|
rs533837914
|
0.00021
|
NM_138691.3(TMC1):c.2070G>A (p.Ala690=)
|
rs145757452
|
0.00016
|
NM_138691.3(TMC1):c.822G>A (p.Pro274=)
|
rs370523728
|
0.00016
|
NM_138691.3(TMC1):c.1225-8C>T
|
rs375785074
|
0.00013
|
NM_138691.3(TMC1):c.795A>C (p.Thr265=)
|
rs140398130
|
0.00013
|
NM_138691.3(TMC1):c.1608C>T (p.Tyr536=)
|
rs552170649
|
0.00012
|
NM_138691.3(TMC1):c.1773C>T (p.Ser591=)
|
rs767247084
|
0.00011
|
NM_138691.3(TMC1):c.498G>A (p.Ala166=)
|
rs370032879
|
0.00009
|
NM_138691.3(TMC1):c.760G>A (p.Val254Ile)
|
rs111033497
|
0.00009
|
NM_138691.3(TMC1):c.1609G>A (p.Val537Ile)
|
rs150206751
|
0.00008
|
NM_138691.3(TMC1):c.1622T>C (p.Ile541Thr)
|
rs201955337
|
0.00008
|
NM_138691.3(TMC1):c.884+15T>C
|
rs372509718
|
0.00008
|
NM_138691.3(TMC1):c.1263A>G (p.Pro421=)
|
rs139985214
|
0.00007
|
NM_138691.3(TMC1):c.2129+15T>A
|
rs747921456
|
0.00007
|
NM_138691.3(TMC1):c.*156T>C
|
rs545955592
|
0.00005
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
NM_138691.3(TMC1):c.1563A>G (p.Gly521=)
|
rs761230185
|
0.00005
|
NM_138691.3(TMC1):c.1696-17C>T
|
rs184810305
|
0.00005
|
NM_138691.3(TMC1):c.2049C>T (p.His683=)
|
rs184318138
|
0.00005
|
NM_138691.3(TMC1):c.483G>A (p.Glu161=)
|
rs375984349
|
0.00005
|
NM_138691.3(TMC1):c.708G>A (p.Ser236=)
|
rs759815339
|
0.00005
|
NM_138691.3(TMC1):c.759C>T (p.Ser253=)
|
rs143200611
|
0.00005
|
NM_138691.3(TMC1):c.885-11T>C
|
rs768694342
|
0.00005
|
NM_138691.3(TMC1):c.1140A>C (p.Gly380=)
|
rs777814216
|
0.00004
|
NM_138691.3(TMC1):c.1365C>T (p.Tyr455=)
|
rs750724544
|
0.00004
|
NM_138691.3(TMC1):c.2275C>T (p.Arg759Cys)
|
rs142073640
|
0.00004
|
NM_138691.3(TMC1):c.65-8A>G
|
rs201199492
|
0.00004
|
NM_138691.3(TMC1):c.*26G>C
|
rs191962062
|
0.00003
|
NM_138691.3(TMC1):c.1311C>T (p.Ile437=)
|
rs537381495
|
0.00003
|
NM_138691.3(TMC1):c.1362A>G (p.Leu454=)
|
rs765094337
|
0.00003
|
NM_138691.3(TMC1):c.1405-19C>A
|
rs1249049210
|
0.00003
|
NM_138691.3(TMC1):c.1567-14T>G
|
rs727503485
|
0.00003
|
NM_138691.3(TMC1):c.1620C>T (p.Leu540=)
|
rs145772877
|
0.00003
|
NM_138691.3(TMC1):c.1800C>T (p.Ile600=)
|
rs1489235333
|
0.00003
|
NM_138691.3(TMC1):c.2004-12T>A
|
rs778448137
|
0.00003
|
NM_138691.3(TMC1):c.2223C>T (p.Asn741=)
|
rs1262760850
|
0.00003
|
NM_138691.3(TMC1):c.2260+12G>A
|
rs531785639
|
0.00003
|
NM_138691.3(TMC1):c.2261-16T>C
|
rs1243733924
|
0.00003
|
NM_138691.3(TMC1):c.454-19T>C
|
rs117399674
|
0.00003
|
NM_138691.3(TMC1):c.64+9T>C
|
rs752499835
|
0.00003
|
NM_138691.3(TMC1):c.72G>A (p.Glu24=)
|
rs1219870972
|
0.00003
|
NM_138691.3(TMC1):c.921T>C (p.Asp307=)
|
rs1216176717
|
0.00003
|
NM_138691.3(TMC1):c.936T>G (p.Asn312Lys)
|
rs148443938
|
0.00003
|
NM_138691.3(TMC1):c.1302T>C (p.His434=)
|
rs781418962
|
0.00002
|
NM_138691.3(TMC1):c.1404+18A>G
|
rs1385417020
|
0.00002
|
NM_138691.3(TMC1):c.1566+19G>T
|
rs369382761
|
0.00002
|
NM_138691.3(TMC1):c.1567-20T>C
|
rs113949345
|
0.00002
|
NM_138691.3(TMC1):c.1584A>G (p.Thr528=)
|
rs762248733
|
0.00002
|
NM_138691.3(TMC1):c.16+4T>C
|
rs374338788
|
0.00002
|
NM_138691.3(TMC1):c.1734C>T (p.Leu578=)
|
rs374323593
|
0.00002
|
NM_138691.3(TMC1):c.2003+17A>G
|
rs748887932
|
0.00002
|
NM_138691.3(TMC1):c.2010A>G (p.Lys670=)
|
rs1017212176
|
0.00002
|
NM_138691.3(TMC1):c.2094C>T (p.Asn698=)
|
rs778570792
|
0.00002
|
NM_138691.3(TMC1):c.2133G>A (p.Leu711=)
|
rs535337741
|
0.00002
|
NM_138691.3(TMC1):c.2178G>A (p.Ala726=)
|
rs555517698
|
0.00002
|
NM_138691.3(TMC1):c.2260+11C>T
|
rs747062029
|
0.00002
|
NM_138691.3(TMC1):c.342G>A (p.Glu114=)
|
rs370554600
|
0.00002
|
NM_138691.3(TMC1):c.362+15T>C
|
rs779995023
|
0.00002
|
NM_138691.3(TMC1):c.643-13C>T
|
rs1442458190
|
0.00002
|
NM_138691.3(TMC1):c.732C>T (p.Tyr244=)
|
rs1406594679
|
0.00002
|
NM_138691.3(TMC1):c.777T>C (p.Tyr259=)
|
rs727503482
|
0.00002
|
NM_138691.3(TMC1):c.1002A>G (p.Lys334=)
|
rs773156746
|
0.00001
|
NM_138691.3(TMC1):c.1053A>C (p.Ala351=)
|
rs1341802536
|
0.00001
|
NM_138691.3(TMC1):c.1070A>G (p.Asn357Ser)
|
rs397517834
|
0.00001
|
NM_138691.3(TMC1):c.1071C>T (p.Asn357=)
|
rs1489881026
|
0.00001
|
NM_138691.3(TMC1):c.1122A>G (p.Leu374=)
|
rs751503196
|
0.00001
|
NM_138691.3(TMC1):c.1143C>T (p.Tyr381=)
|
rs757327146
|
0.00001
|
NM_138691.3(TMC1):c.1182A>G (p.Ala394=)
|
rs769519448
|
0.00001
|
NM_138691.3(TMC1):c.1224+20T>C
|
rs763924669
|
0.00001
|
NM_138691.3(TMC1):c.1233G>A (p.Met411Ile)
|
rs184603559
|
0.00001
|
NM_138691.3(TMC1):c.1275C>T (p.Asp425=)
|
rs765507648
|
0.00001
|
NM_138691.3(TMC1):c.1276T>C (p.Leu426=)
|
rs1828275619
|
0.00001
|
NM_138691.3(TMC1):c.1329G>A (p.Leu443=)
|
rs369197132
|
0.00001
|
NM_138691.3(TMC1):c.1485T>G (p.Ser495=)
|
rs370302201
|
0.00001
|
NM_138691.3(TMC1):c.1500A>G (p.Gly500=)
|
rs1035880882
|
0.00001
|
NM_138691.3(TMC1):c.1566+11C>G
|
rs1352189885
|
0.00001
|
NM_138691.3(TMC1):c.1626G>A (p.Gly542=)
|
rs778829243
|
0.00001
|
NM_138691.3(TMC1):c.1629C>T (p.Asp543=)
|
rs745630603
|
0.00001
|
NM_138691.3(TMC1):c.1680C>T (p.Asp560=)
|
rs773672736
|
0.00001
|
NM_138691.3(TMC1):c.1681T>C (p.Leu561=)
|
rs1008485960
|
0.00001
|
NM_138691.3(TMC1):c.17-16T>C
|
rs1181676165
|
0.00001
|
NM_138691.3(TMC1):c.1764-13G>T
|
rs762854159
|
0.00001
|
NM_138691.3(TMC1):c.177G>A (p.Glu59=)
|
rs751950994
|
0.00001
|
NM_138691.3(TMC1):c.1794A>G (p.Pro598=)
|
rs756359010
|
0.00001
|
NM_138691.3(TMC1):c.1845C>T (p.Ala615=)
|
rs746329878
|
0.00001
|
NM_138691.3(TMC1):c.1965C>T (p.Ile655=)
|
rs373662034
|
0.00001
|
NM_138691.3(TMC1):c.1989T>C (p.Asp663=)
|
rs777510027
|
0.00001
|
NM_138691.3(TMC1):c.2007C>G (p.Gly669=)
|
rs1416667481
|
0.00001
|
NM_138691.3(TMC1):c.2016A>G (p.Arg672=)
|
rs745353027
|
0.00001
|
NM_138691.3(TMC1):c.2058A>C (p.Pro686=)
|
rs766317205
|
0.00001
|
NM_138691.3(TMC1):c.2097T>C (p.Pro699=)
|
rs1157161615
|
0.00001
|
NM_138691.3(TMC1):c.2129+10T>C
|
rs1350996327
|
0.00001
|
NM_138691.3(TMC1):c.2139C>T (p.Ile713=)
|
rs748048935
|
0.00001
|
NM_138691.3(TMC1):c.2208+11A>G
|
rs1829023253
|
0.00001
|
NM_138691.3(TMC1):c.2208+20A>T
|
rs754557410
|
0.00001
|
NM_138691.3(TMC1):c.2208+7T>C
|
rs1166112451
|
0.00001
|
NM_138691.3(TMC1):c.2209-18T>G
|
rs777092231
|
0.00001
|
NM_138691.3(TMC1):c.2283A>G (p.Ter761=)
|
rs766103436
|
0.00001
|
NM_138691.3(TMC1):c.236+12C>T
|
rs532289573
|
0.00001
|
NM_138691.3(TMC1):c.237-5T>A
|
rs1057515622
|
0.00001
|
NM_138691.3(TMC1):c.362+18del
|
rs1219574411
|
0.00001
|
NM_138691.3(TMC1):c.363-20T>C
|
rs1827362304
|
0.00001
|
NM_138691.3(TMC1):c.363-8T>C
|
rs1258669678
|
0.00001
|
NM_138691.3(TMC1):c.405G>T (p.Gly135=)
|
rs1391895910
|
0.00001
|
NM_138691.3(TMC1):c.453+14T>C
|
rs1356804289
|
0.00001
|
NM_138691.3(TMC1):c.462A>G (p.Ala154=)
|
rs539228804
|
0.00001
|
NM_138691.3(TMC1):c.507A>G (p.Pro169=)
|
rs767019298
|
0.00001
|
NM_138691.3(TMC1):c.535+20C>T
|
rs373823051
|
0.00001
|
NM_138691.3(TMC1):c.536-7G>A
|
rs777142875
|
0.00001
|
NM_138691.3(TMC1):c.594C>A (p.Val198=)
|
rs1817900949
|
0.00001
|
NM_138691.3(TMC1):c.627C>T (p.Leu209=)
|
rs748580616
|
0.00001
|
NM_138691.3(TMC1):c.64+11A>T
|
rs762858152
|
0.00001
|
NM_138691.3(TMC1):c.64+12T>C
|
rs1447391652
|
0.00001
|
NM_138691.3(TMC1):c.684C>T (p.Thr228=)
|
rs890529621
|
0.00001
|
NM_138691.3(TMC1):c.717C>T (p.Asn239=)
|
rs988599363
|
0.00001
|
NM_138691.3(TMC1):c.741+8T>A
|
rs757657473
|
0.00001
|
NM_138691.3(TMC1):c.742-12G>T
|
rs886038723
|
0.00001
|
NM_138691.3(TMC1):c.780T>C (p.Tyr260=)
|
rs754390601
|
0.00001
|
NM_138691.3(TMC1):c.87A>G (p.Glu29=)
|
rs770793343
|
0.00001
|
NM_138691.3(TMC1):c.885-9T>C
|
rs1221267542
|
0.00001
|
NM_138691.3(TMC1):c.927C>T (p.Asn309=)
|
rs1454394344
|
0.00001
|
NM_138691.3(TMC1):c.975C>T (p.Ile325=)
|
rs1268854638
|
0.00001
|
NM_138691.3(TMC1):c.984T>C (p.Pro328=)
|
rs781353378
|
0.00001
|
GRCh37/hg19 9q21.13(chr9:75161655-75253728)x3
|
|
|
NM_138691.3(TMC1):c.-14_-7dup
|
rs573607788
|
|
NM_138691.3(TMC1):c.1014C>T (p.Ile338=)
|
rs1299560119
|
|
NM_138691.3(TMC1):c.1029+10C>G
|
rs1301121532
|
|
NM_138691.3(TMC1):c.1029+14C>T
|
rs2489916577
|
|
NM_138691.3(TMC1):c.1029+7G>A
|
rs1222212369
|
|
NM_138691.3(TMC1):c.1029+7G>C
|
|
|
NM_138691.3(TMC1):c.1030-10A>C
|
rs780945081
|
|
NM_138691.3(TMC1):c.1030-10A>T
|
|
|
NM_138691.3(TMC1):c.1030-16G>T
|
rs1828219437
|
|
NM_138691.3(TMC1):c.1030-20G>T
|
rs2489918029
|
|
NM_138691.3(TMC1):c.1030-31TTTG[3]
|
rs745417408
|
|
NM_138691.3(TMC1):c.1035T>A (p.Ala345=)
|
rs2489918085
|
|
NM_138691.3(TMC1):c.1041A>T (p.Thr347=)
|
rs1440387246
|
|
NM_138691.3(TMC1):c.1056C>A (p.Ala352=)
|
rs2489918147
|
|
NM_138691.3(TMC1):c.1080G>A (p.Leu360=)
|
rs1828220657
|
|
NM_138691.3(TMC1):c.108G>A (p.Glu36=)
|
rs2132189522
|
|
NM_138691.3(TMC1):c.1107C>T (p.Asn369=)
|
rs2489918265
|
|
NM_138691.3(TMC1):c.1125A>G (p.Thr375=)
|
|
|
NM_138691.3(TMC1):c.1221T>C (p.Asn407=)
|
rs2489918896
|
|
NM_138691.3(TMC1):c.1224+13A>C
|
rs755939465
|
|
NM_138691.3(TMC1):c.1224+13A>G
|
rs755939465
|
|
NM_138691.3(TMC1):c.1224+240del
|
rs143206763
|
|
NM_138691.3(TMC1):c.1224+9_1224+10del
|
rs1400788008
|
|
NM_138691.3(TMC1):c.1305T>A (p.Pro435=)
|
rs2489926209
|
|
NM_138691.3(TMC1):c.1326A>T (p.Leu442=)
|
rs1263158796
|
|
NM_138691.3(TMC1):c.1329G>T (p.Leu443=)
|
rs369197132
|
|
NM_138691.3(TMC1):c.1335C>T (p.Arg445=)
|
rs1828278053
|
|
NM_138691.3(TMC1):c.1356C>G (p.Gly452=)
|
rs1588085456
|
|
NM_138691.3(TMC1):c.135C>T (p.Thr45=)
|
|
|
NM_138691.3(TMC1):c.1368A>G (p.Val456=)
|
rs1828279180
|
|
NM_138691.3(TMC1):c.1371T>C (p.Phe457=)
|
rs2489926456
|
|
NM_138691.3(TMC1):c.1380A>T (p.Ala460=)
|
rs1319613360
|
|
NM_138691.3(TMC1):c.1404+10G>C
|
rs2489926582
|
|
NM_138691.3(TMC1):c.1404+17G>C
|
rs1828280651
|
|
NM_138691.3(TMC1):c.1405-17A>G
|
rs1828282489
|
|
NM_138691.3(TMC1):c.1434T>C (p.Asn478=)
|
rs2489926975
|
|
NM_138691.3(TMC1):c.1440C>T (p.Thr480=)
|
rs1301469408
|
|
NM_138691.3(TMC1):c.1443T>C (p.Leu481=)
|
rs1481066869
|
|
NM_138691.3(TMC1):c.1443T>G (p.Leu481=)
|
rs1481066869
|
|
NM_138691.3(TMC1):c.147C>A (p.Ile49=)
|
rs2489705679
|
|
NM_138691.3(TMC1):c.1485T>A (p.Ser495=)
|
rs370302201
|
|
NM_138691.3(TMC1):c.1494C>T (p.Ser498=)
|
rs1828284756
|
|
NM_138691.3(TMC1):c.1506C>G (p.Pro502=)
|
rs2118194195
|
|
NM_138691.3(TMC1):c.1524A>G (p.Ala508=)
|
|
|
NM_138691.3(TMC1):c.1539A>G (p.Gly513=)
|
rs1223250748
|
|
NM_138691.3(TMC1):c.1542T>C (p.Pro514=)
|
rs2489927398
|
|
NM_138691.3(TMC1):c.1566+14C>G
|
rs2489927480
|
|
NM_138691.3(TMC1):c.1566+19G>A
|
rs369382761
|
|
NM_138691.3(TMC1):c.1566+7C>G
|
rs544924157
|
|
NM_138691.3(TMC1):c.1567-12del
|
rs1168127482
|
|
NM_138691.3(TMC1):c.1567-15A>G
|
rs746170962
|
|
NM_138691.3(TMC1):c.1567-4A>G
|
rs369562300
|
|
NM_138691.3(TMC1):c.1567-8C>A
|
rs1266071857
|
|
NM_138691.3(TMC1):c.1590T>A (p.Ser530=)
|
|
|
NM_138691.3(TMC1):c.1599G>A (p.Leu533=)
|
rs868570521
|
|
NM_138691.3(TMC1):c.16+14C>A
|
rs1390422060
|
|
NM_138691.3(TMC1):c.16+20T>C
|
rs2489587315
|
|
NM_138691.3(TMC1):c.16+23_16+26del
|
rs2489587309
|
|
NM_138691.3(TMC1):c.1602C>T (p.Thr534=)
|
rs111033462
|
|
NM_138691.3(TMC1):c.1633C>T (p.Leu545=)
|
rs1480474842
|
|
NM_138691.3(TMC1):c.1653G>A (p.Arg551=)
|
rs2489958149
|
|
NM_138691.3(TMC1):c.1665T>C (p.Tyr555=)
|
rs1828558685
|
|
NM_138691.3(TMC1):c.1695+11T>C
|
rs760340183
|
|
NM_138691.3(TMC1):c.1695+12G>A
|
rs2489958371
|
|
NM_138691.3(TMC1):c.1695+17T>G
|
rs2489958378
|
|
NM_138691.3(TMC1):c.1695+8T>C
|
rs2489958350
|
|
NM_138691.3(TMC1):c.1696-11_1696-10del
|
rs563515255
|
|
NM_138691.3(TMC1):c.1696-19A>T
|
rs770370818
|
|
NM_138691.3(TMC1):c.1696-7C>T
|
|
|
NM_138691.3(TMC1):c.17-6C>A
|
|
|
NM_138691.3(TMC1):c.1701A>G (p.Ser567=)
|
rs2489978551
|
|
NM_138691.3(TMC1):c.1704C>T (p.Tyr568=)
|
rs1369821363
|
|
NM_138691.3(TMC1):c.1707C>A (p.Thr569=)
|
rs760464772
|
|
NM_138691.3(TMC1):c.1707C>T (p.Thr569=)
|
rs760464772
|
|
NM_138691.3(TMC1):c.1749C>T (p.Asn583=)
|
rs2489978690
|
|
NM_138691.3(TMC1):c.1763+15G>A
|
|
|
NM_138691.3(TMC1):c.1763+17A>G
|
rs748357997
|
|
NM_138691.3(TMC1):c.1763+8A>G
|
rs2489978770
|
|
NM_138691.3(TMC1):c.1764-12T>C
|
rs1828856602
|
|
NM_138691.3(TMC1):c.1764-13G>C
|
rs762854159
|
|
NM_138691.3(TMC1):c.1764-15C>G
|
rs772773999
|
|
NM_138691.3(TMC1):c.1764-15C>T
|
rs772773999
|
|
NM_138691.3(TMC1):c.1764-17T>C
|
|
|
NM_138691.3(TMC1):c.1764-17T>G
|
rs1415673326
|
|
NM_138691.3(TMC1):c.1902C>T (p.Asn634=)
|
rs767285617
|
|
NM_138691.3(TMC1):c.1911G>C (p.Leu637=)
|
rs764348919
|
|
NM_138691.3(TMC1):c.1914C>A (p.Gly638=)
|
|
|
NM_138691.3(TMC1):c.1921C>T (p.Leu641=)
|
rs1318364193
|
|
NM_138691.3(TMC1):c.1941C>T (p.Ser647=)
|
rs2118299085
|
|
NM_138691.3(TMC1):c.1968G>A (p.Val656=)
|
rs2489985292
|
|
NM_138691.3(TMC1):c.1971C>T (p.Ser657=)
|
|
|
NM_138691.3(TMC1):c.1980A>G (p.Pro660=)
|
rs2489985323
|
|
NM_138691.3(TMC1):c.2003+18T>C
|
rs770437209
|
|
NM_138691.3(TMC1):c.2004-18C>T
|
rs2489994092
|
|
NM_138691.3(TMC1):c.2004-20C>T
|
rs756893278
|
|
NM_138691.3(TMC1):c.2004-5C>T
|
rs1474821726
|
|
NM_138691.3(TMC1):c.2046G>A (p.Glu682=)
|
rs1828966155
|
|
NM_138691.3(TMC1):c.2085G>A (p.Gln695=)
|
rs756948278
|
|
NM_138691.3(TMC1):c.2129+13C>T
|
rs2489994500
|
|
NM_138691.3(TMC1):c.2129+7G>C
|
|
|
NM_138691.3(TMC1):c.2130-13C>T
|
rs1393474905
|
|
NM_138691.3(TMC1):c.2130-13_2130-12del
|
rs2489999383
|
|
NM_138691.3(TMC1):c.2130-13_2130-9del
|
rs1396682691
|
|
NM_138691.3(TMC1):c.2130-14T>G
|
rs2489999381
|
|
NM_138691.3(TMC1):c.2130-9T>G
|
|
|
NM_138691.3(TMC1):c.2136C>T (p.Ala712=)
|
rs2489999431
|
|
NM_138691.3(TMC1):c.2148C>G (p.Leu716=)
|
rs1829021570
|
|
NM_138691.3(TMC1):c.2154T>C (p.Ala718=)
|
|
|
NM_138691.3(TMC1):c.2193A>G (p.Lys731=)
|
|
|
NM_138691.3(TMC1):c.2196G>A (p.Lys732=)
|
rs142701058
|
|
NM_138691.3(TMC1):c.2208+15A>G
|
rs2489999737
|
|
NM_138691.3(TMC1):c.2208+18T>C
|
rs2489999746
|
|
NM_138691.3(TMC1):c.2208+19C>T
|
rs2489999753
|
|
NM_138691.3(TMC1):c.2208+9C>A
|
rs1829023196
|
|
NM_138691.3(TMC1):c.2209-16A>G
|
rs765588386
|
|
NM_138691.3(TMC1):c.2209-17T>G
|
rs762114112
|
|
NM_138691.3(TMC1):c.2209-7T>C
|
rs2490000105
|
|
NM_138691.3(TMC1):c.2209-9_2209-8del
|
rs2490000093
|
|
NM_138691.3(TMC1):c.2241A>G (p.Lys747=)
|
rs1465702507
|
|
NM_138691.3(TMC1):c.2260+10A>C
|
rs2529184680
|
|
NM_138691.3(TMC1):c.2260+16A>G
|
rs2490000433
|
|
NM_138691.3(TMC1):c.2260+19T>A
|
rs2490000452
|
|
NM_138691.3(TMC1):c.2260+27_2260+35del
|
rs763423820
|
|
NM_138691.3(TMC1):c.2260+46C>T
|
rs956799073
|
|
NM_138691.3(TMC1):c.2260+8A>C
|
rs2490000402
|
|
NM_138691.3(TMC1):c.2261-13G>A
|
rs115008515
|
|
NM_138691.3(TMC1):c.2261-16_2261-15insTAT
|
rs1554731445
|
|
NM_138691.3(TMC1):c.2261-17T>G
|
rs1044149765
|
|
NM_138691.3(TMC1):c.2261-53TC[8]
|
rs113386228
|
|
NM_138691.3(TMC1):c.2261-8G>T
|
rs775297606
|
|
NM_138691.3(TMC1):c.2265A>T (p.Ala755=)
|
rs1262686046
|
|
NM_138691.3(TMC1):c.236+12C>G
|
rs532289573
|
|
NM_138691.3(TMC1):c.236+9G>C
|
rs2489706109
|
|
NM_138691.3(TMC1):c.237-236dup
|
rs11378545
|
|
NM_138691.3(TMC1):c.237-254del
|
rs113598491
|
|
NM_138691.3(TMC1):c.237-254dup
|
rs113598491
|
|
NM_138691.3(TMC1):c.237-6T>C
|
rs2489718855
|
|
NM_138691.3(TMC1):c.237-7T>G
|
rs1826624309
|
|
NM_138691.3(TMC1):c.238GAA[3] (p.Glu83del)
|
rs376040866
|
|
NM_138691.3(TMC1):c.286T>C (p.Leu96=)
|
rs2489719127
|
|
NM_138691.3(TMC1):c.291T>C (p.Asp97=)
|
rs1404599529
|
|
NM_138691.3(TMC1):c.315T>C (p.Thr105=)
|
rs1237261384
|
|
NM_138691.3(TMC1):c.362+101AC[10]
|
rs1189207416
|
|
NM_138691.3(TMC1):c.362+101AC[9]
|
rs1189207416
|
|
NM_138691.3(TMC1):c.362+118_362+119del
|
rs1554721639
|
|
NM_138691.3(TMC1):c.362+11A>G
|
rs1826626517
|
|
NM_138691.3(TMC1):c.362+12_362+15dup
|
|
|
NM_138691.3(TMC1):c.362+71AT[12]
|
rs72200654
|
|
NM_138691.3(TMC1):c.362+8_362+9del
|
rs2489719518
|
|
NM_138691.3(TMC1):c.362+99_362+100insCA
|
rs1256344062
|
|
NM_138691.3(TMC1):c.362+9C>T
|
rs1453543733
|
|
NM_138691.3(TMC1):c.363-11T>G
|
|
|
NM_138691.3(TMC1):c.399T>C (p.Ala133=)
|
rs2489806461
|
|
NM_138691.3(TMC1):c.435T>C (p.Phe145=)
|
rs2489806744
|
|
NM_138691.3(TMC1):c.453+15A>C
|
rs2489806966
|
|
NM_138691.3(TMC1):c.453+16G>A
|
rs777928804
|
|
NM_138691.3(TMC1):c.454-13A>T
|
rs2489814208
|
|
NM_138691.3(TMC1):c.454-20G>T
|
rs771053186
|
|
NM_138691.3(TMC1):c.454-4T>G
|
rs2489814243
|
|
NM_138691.3(TMC1):c.454-9T>C
|
rs1564525518
|
|
NM_138691.3(TMC1):c.504C>G (p.Val168=)
|
rs758924923
|
|
NM_138691.3(TMC1):c.536-18T>C
|
rs2489834490
|
|
NM_138691.3(TMC1):c.540G>A (p.Gln180=)
|
rs2489834575
|
|
NM_138691.3(TMC1):c.558C>T (p.Ala186=)
|
rs1827585145
|
|
NM_138691.3(TMC1):c.570C>T (p.Leu190=)
|
|
|
NM_138691.3(TMC1):c.64+19C>T
|
rs1033776269
|
|
NM_138691.3(TMC1):c.64+7G>A
|
|
|
NM_138691.3(TMC1):c.642+11A>G
|
|
|
NM_138691.3(TMC1):c.642+14T>G
|
|
|
NM_138691.3(TMC1):c.642+7T>A
|
rs2489835312
|
|
NM_138691.3(TMC1):c.643-14G>A
|
|
|
NM_138691.3(TMC1):c.645C>T (p.Tyr215=)
|
rs964315149
|
|
NM_138691.3(TMC1):c.648C>G (p.Leu216=)
|
rs1340357418
|
|
NM_138691.3(TMC1):c.65-11G>C
|
rs182636408
|
|
NM_138691.3(TMC1):c.65-8A>C
|
rs201199492
|
|
NM_138691.3(TMC1):c.663T>C (p.Tyr221=)
|
rs2489841544
|
|
NM_138691.3(TMC1):c.666C>T (p.Gly222=)
|
rs2489841560
|
|
NM_138691.3(TMC1):c.684C>A (p.Thr228=)
|
rs890529621
|
|
NM_138691.3(TMC1):c.687T>C (p.Val229=)
|
rs1283610185
|
|
NM_138691.3(TMC1):c.702G>A (p.Glu234=)
|
rs762790929
|
|
NM_138691.3(TMC1):c.741+140GAAA[3]
|
rs1201958519
|
|
NM_138691.3(TMC1):c.741+155AG[6]
|
rs1379638342
|
|
NM_138691.3(TMC1):c.741+155AG[7]
|
rs1379638342
|
|
NM_138691.3(TMC1):c.741+18A>G
|
rs2489841894
|
|
NM_138691.3(TMC1):c.742-12G>A
|
rs886038723
|
|
NM_138691.3(TMC1):c.742-19C>A
|
rs1827941760
|
|
NM_138691.3(TMC1):c.742-20G>A
|
rs369458472
|
|
NM_138691.3(TMC1):c.742-20G>T
|
rs369458472
|
|
NM_138691.3(TMC1):c.765C>A (p.Leu255=)
|
rs201230747
|
|
NM_138691.3(TMC1):c.789A>G (p.Lys263=)
|
rs2489883297
|
|
NM_138691.3(TMC1):c.78G>A (p.Glu26=)
|
rs769476838
|
|
NM_138691.3(TMC1):c.822G>T (p.Pro274=)
|
rs370523728
|
|
NM_138691.3(TMC1):c.828C>T (p.Ser276=)
|
rs1018030860
|
|
NM_138691.3(TMC1):c.837A>G (p.Leu279=)
|
rs2489883495
|
|
NM_138691.3(TMC1):c.843G>T (p.Gly281=)
|
rs2489883534
|
|
NM_138691.3(TMC1):c.84G>A (p.Val28=)
|
rs748771130
|
|
NM_138691.3(TMC1):c.873T>G (p.Val291=)
|
rs1339556115
|
|
NM_138691.3(TMC1):c.879C>G (p.Leu293=)
|
rs772213890
|
|
NM_138691.3(TMC1):c.884+12T>C
|
rs2489883852
|
|
NM_138691.3(TMC1):c.884+19T>G
|
rs2489883893
|
|
NM_138691.3(TMC1):c.884+9C>T
|
rs2489883840
|
|
NM_138691.3(TMC1):c.885-8T>G
|
rs2489915763
|
|
NM_138691.3(TMC1):c.897C>T (p.Asn299=)
|
rs2489915830
|
|
NM_138691.3(TMC1):c.924C>T (p.Asp308=)
|
rs113342704
|
|
NM_138691.3(TMC1):c.933C>T (p.Phe311=)
|
|
|
NM_138691.3(TMC1):c.942C>T (p.Ser314=)
|
rs1460931936
|
|
NM_138691.3(TMC1):c.94C>T (p.Leu32=)
|
rs1826518222
|
|
NM_138691.3(TMC1):c.951C>G (p.Val317=)
|
rs1588083627
|
|
NM_138691.3(TMC1):c.9C>T (p.Pro3=)
|
rs2489587225
|
|