NM_024334.3(TMEM43):c.347G>A (p.Arg116Gln)
|
rs143535006
|
0.00021
|
NM_024334.3(TMEM43):c.361A>G (p.Met121Val)
|
rs369878538
|
0.00017
|
NM_024334.3(TMEM43):c.280G>A (p.Ala94Thr)
|
rs369142200
|
0.00014
|
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys)
|
rs367910936
|
0.00013
|
NM_024334.3(TMEM43):c.91G>A (p.Glu31Lys)
|
rs754536393
|
0.00011
|
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)
|
rs144811578
|
0.00009
|
NM_024334.3(TMEM43):c.865G>A (p.Gly289Arg)
|
rs730880226
|
0.00009
|
NM_024334.3(TMEM43):c.428C>T (p.Thr143Met)
|
rs544554435
|
0.00008
|
NM_024334.3(TMEM43):c.214G>A (p.Val72Met)
|
rs368603914
|
0.00006
|
NM_024334.3(TMEM43):c.53A>G (p.Lys18Arg)
|
rs1214893591
|
0.00006
|
NM_024334.3(TMEM43):c.578C>T (p.Ser193Leu)
|
rs140380494
|
0.00006
|
NM_024334.3(TMEM43):c.797G>A (p.Arg266Gln)
|
rs193922707
|
0.00006
|
NM_024334.3(TMEM43):c.679C>G (p.His227Asp)
|
rs201460674
|
0.00005
|
NM_024334.3(TMEM43):c.1021C>T (p.Arg341Ter)
|
rs778127887
|
0.00004
|
NM_024334.3(TMEM43):c.1026C>A (p.Asp342Glu)
|
rs376514478
|
0.00004
|
NM_024334.3(TMEM43):c.121A>G (p.Met41Val)
|
rs144334386
|
0.00004
|
NM_024334.3(TMEM43):c.166C>T (p.Arg56Cys)
|
rs201094625
|
0.00004
|
NM_024334.3(TMEM43):c.206C>T (p.Ser69Leu)
|
rs369779779
|
0.00004
|
NM_024334.3(TMEM43):c.231C>G (p.Ile77Met)
|
rs899266809
|
0.00004
|
NM_024334.3(TMEM43):c.310C>G (p.Pro104Ala)
|
rs775872602
|
0.00004
|
NM_024334.3(TMEM43):c.413A>G (p.Gln138Arg)
|
rs397517384
|
0.00004
|
NM_024334.3(TMEM43):c.447dup (p.Glu150Ter)
|
rs1423539317
|
0.00004
|
NM_024334.3(TMEM43):c.487C>T (p.Arg163Ter)
|
rs147336367
|
0.00004
|
NM_024334.3(TMEM43):c.518T>C (p.Met173Thr)
|
rs373023080
|
0.00004
|
NM_024334.3(TMEM43):c.742C>A (p.Leu248Met)
|
rs780389237
|
0.00004
|
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser)
|
rs199526104
|
0.00004
|
NM_024334.3(TMEM43):c.1112A>G (p.Tyr371Cys)
|
rs752269639
|
0.00003
|
NM_024334.3(TMEM43):c.1114C>T (p.Arg372Ter)
|
rs773224617
|
0.00003
|
NM_024334.3(TMEM43):c.403G>A (p.Glu135Lys)
|
rs140347235
|
0.00003
|
NM_024334.3(TMEM43):c.406G>A (p.Asp136Asn)
|
rs559271953
|
0.00003
|
NM_024334.3(TMEM43):c.644A>C (p.His215Pro)
|
rs730880225
|
0.00003
|
NM_024334.3(TMEM43):c.661C>T (p.Arg221Cys)
|
rs182464375
|
0.00003
|
NM_024334.3(TMEM43):c.748G>A (p.Gly250Ser)
|
rs371797765
|
0.00003
|
NM_024334.3(TMEM43):c.796C>T (p.Arg266Trp)
|
rs139842014
|
0.00003
|
NM_024334.3(TMEM43):c.83G>A (p.Arg28Gln)
|
rs757651177
|
0.00003
|
NM_024334.3(TMEM43):c.980C>G (p.Thr327Arg)
|
rs368111230
|
0.00003
|
NM_024334.3(TMEM43):c.1000+5G>T
|
rs376589026
|
0.00002
|
NM_024334.3(TMEM43):c.1022G>A (p.Arg341Gln)
|
rs749727938
|
0.00002
|
NM_024334.3(TMEM43):c.1059C>G (p.Phe353Leu)
|
rs730880227
|
0.00002
|
NM_024334.3(TMEM43):c.1172G>A (p.Arg391Gln)
|
rs757742631
|
0.00002
|
NM_024334.3(TMEM43):c.1184C>G (p.Pro395Arg)
|
rs1169613716
|
0.00002
|
NM_024334.3(TMEM43):c.179C>T (p.Thr60Met)
|
rs1362645227
|
0.00002
|
NM_024334.3(TMEM43):c.317A>G (p.Tyr106Cys)
|
rs747310600
|
0.00002
|
NM_024334.3(TMEM43):c.31C>T (p.Arg11Trp)
|
rs201085402
|
0.00002
|
NM_024334.3(TMEM43):c.32G>A (p.Arg11Gln)
|
rs568179990
|
0.00002
|
NM_024334.3(TMEM43):c.355G>A (p.Val119Met)
|
rs757430674
|
0.00002
|
NM_024334.3(TMEM43):c.475A>G (p.Lys159Glu)
|
rs1269566290
|
0.00002
|
NM_024334.3(TMEM43):c.625T>G (p.Ser209Ala)
|
rs397517386
|
0.00002
|
NM_024334.3(TMEM43):c.705+6C>T
|
rs185025731
|
0.00002
|
NM_024334.3(TMEM43):c.719G>A (p.Arg240His)
|
rs758817244
|
0.00002
|
NM_024334.3(TMEM43):c.778G>A (p.Val260Met)
|
rs758872772
|
0.00002
|
NM_024334.3(TMEM43):c.956T>C (p.Met319Thr)
|
rs775113815
|
0.00002
|
NM_024334.3(TMEM43):c.98C>T (p.Ser33Leu)
|
rs539753097
|
0.00002
|
NM_024334.3(TMEM43):c.1000+2T>C
|
rs748618994
|
0.00001
|
NM_024334.3(TMEM43):c.1000+6T>C
|
rs773749788
|
0.00001
|
NM_024334.3(TMEM43):c.1037T>C (p.Ile346Thr)
|
rs1286798674
|
0.00001
|
NM_024334.3(TMEM43):c.1058T>C (p.Phe353Ser)
|
rs565997790
|
0.00001
|
NM_024334.3(TMEM43):c.1067C>T (p.Ala356Val)
|
rs1465084342
|
0.00001
|
NM_024334.3(TMEM43):c.1085T>G (p.Leu362Arg)
|
rs756256793
|
0.00001
|
NM_024334.3(TMEM43):c.1090G>A (p.Val364Met)
|
rs754236206
|
0.00001
|
NM_024334.3(TMEM43):c.1115G>A (p.Arg372Gln)
|
rs749140979
|
0.00001
|
NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser)
|
rs767916602
|
0.00001
|
NM_024334.3(TMEM43):c.1177C>T (p.Arg393Trp)
|
rs765762863
|
0.00001
|
NM_024334.3(TMEM43):c.1178G>A (p.Arg393Gln)
|
rs758037497
|
0.00001
|
NM_024334.3(TMEM43):c.118C>G (p.Leu40Val)
|
rs755682525
|
0.00001
|
NM_024334.3(TMEM43):c.136T>C (p.Ser46Pro)
|
rs145510310
|
0.00001
|
NM_024334.3(TMEM43):c.13T>C (p.Tyr5His)
|
rs727505249
|
0.00001
|
NM_024334.3(TMEM43):c.163-2A>T
|
rs745694031
|
0.00001
|
NM_024334.3(TMEM43):c.167G>A (p.Arg56His)
|
rs747164382
|
0.00001
|
NM_024334.3(TMEM43):c.178A>T (p.Thr60Ser)
|
rs1695084121
|
0.00001
|
NM_024334.3(TMEM43):c.182C>G (p.Ala61Gly)
|
rs1225730180
|
0.00001
|
NM_024334.3(TMEM43):c.208C>T (p.Leu70Phe)
|
rs577359875
|
0.00001
|
NM_024334.3(TMEM43):c.223G>A (p.Asp75Asn)
|
rs138764471
|
0.00001
|
NM_024334.3(TMEM43):c.227G>A (p.Ser76Asn)
|
rs144663367
|
0.00001
|
NM_024334.3(TMEM43):c.235A>G (p.Ser79Gly)
|
rs930770110
|
0.00001
|
NM_024334.3(TMEM43):c.244C>G (p.Pro82Ala)
|
rs148171303
|
0.00001
|
NM_024334.3(TMEM43):c.245C>T (p.Pro82Leu)
|
rs748242385
|
0.00001
|
NM_024334.3(TMEM43):c.251A>G (p.Asn84Ser)
|
rs773605236
|
0.00001
|
NM_024334.3(TMEM43):c.26G>A (p.Ser9Asn)
|
rs1695062743
|
0.00001
|
NM_024334.3(TMEM43):c.275T>C (p.Ile92Thr)
|
rs555913548
|
0.00001
|
NM_024334.3(TMEM43):c.329T>C (p.Leu110Pro)
|
rs1553602985
|
0.00001
|
NM_024334.3(TMEM43):c.333G>A (p.Pro111=)
|
rs774276092
|
0.00001
|
NM_024334.3(TMEM43):c.344T>C (p.Leu115Pro)
|
rs376182664
|
0.00001
|
NM_024334.3(TMEM43):c.346C>T (p.Arg116Trp)
|
rs752588115
|
0.00001
|
NM_024334.3(TMEM43):c.380C>T (p.Thr127Ile)
|
rs754381041
|
0.00001
|
NM_024334.3(TMEM43):c.401C>A (p.Thr134Asn)
|
rs778405877
|
0.00001
|
NM_024334.3(TMEM43):c.47A>T (p.Lys16Ile)
|
rs770619613
|
0.00001
|
NM_024334.3(TMEM43):c.494T>C (p.Ile165Thr)
|
rs1339170856
|
0.00001
|
NM_024334.3(TMEM43):c.497G>C (p.Gly166Ala)
|
rs767516734
|
0.00001
|
NM_024334.3(TMEM43):c.49G>A (p.Val17Ile)
|
rs370973153
|
0.00001
|
NM_024334.3(TMEM43):c.500A>G (p.His167Arg)
|
rs775986881
|
0.00001
|
NM_024334.3(TMEM43):c.515C>T (p.Ala172Val)
|
rs553757132
|
0.00001
|
NM_024334.3(TMEM43):c.520G>A (p.Ala174Thr)
|
rs397517385
|
0.00001
|
NM_024334.3(TMEM43):c.530C>T (p.Ser177Leu)
|
rs1167948235
|
0.00001
|
NM_024334.3(TMEM43):c.542C>T (p.Thr181Ile)
|
rs1695131103
|
0.00001
|
NM_024334.3(TMEM43):c.548C>G (p.Pro183Arg)
|
rs746116143
|
0.00001
|
NM_024334.3(TMEM43):c.560T>C (p.Ile187Thr)
|
rs772317634
|
0.00001
|
NM_024334.3(TMEM43):c.592G>A (p.Asp198Asn)
|
rs1383512011
|
0.00001
|
NM_024334.3(TMEM43):c.606del (p.Phe203fs)
|
rs753024549
|
0.00001
|
NM_024334.3(TMEM43):c.62C>T (p.Ser21Phe)
|
rs794729183
|
0.00001
|
NM_024334.3(TMEM43):c.646G>A (p.Val216Met)
|
rs143735210
|
0.00001
|
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys)
|
rs562700595
|
0.00001
|
NM_024334.3(TMEM43):c.659G>A (p.Arg220His)
|
rs570836197
|
0.00001
|
NM_024334.3(TMEM43):c.65dup (p.Pro23fs)
|
rs1300909566
|
0.00001
|
NM_024334.3(TMEM43):c.662G>A (p.Arg221His)
|
rs774735646
|
0.00001
|
NM_024334.3(TMEM43):c.664G>A (p.Gly222Arg)
|
rs746183974
|
0.00001
|
NM_024334.3(TMEM43):c.686A>G (p.Glu229Gly)
|
rs764671990
|
0.00001
|
NM_024334.3(TMEM43):c.700C>T (p.Pro234Ser)
|
rs374202326
|
0.00001
|
NM_024334.3(TMEM43):c.704A>C (p.Glu235Ala)
|
rs751419150
|
0.00001
|
NM_024334.3(TMEM43):c.705+5G>T
|
rs754716462
|
0.00001
|
NM_024334.3(TMEM43):c.734A>G (p.Tyr245Cys)
|
rs150478052
|
0.00001
|
NM_024334.3(TMEM43):c.751G>A (p.Asp251Asn)
|
rs375481688
|
0.00001
|
NM_024334.3(TMEM43):c.781-3C>T
|
rs780142044
|
0.00001
|
NM_024334.3(TMEM43):c.803G>T (p.Arg268Leu)
|
rs769969149
|
0.00001
|
NM_024334.3(TMEM43):c.859C>T (p.His287Tyr)
|
rs780299346
|
0.00001
|
NM_024334.3(TMEM43):c.893A>G (p.His298Arg)
|
rs1285837389
|
0.00001
|
NM_024334.3(TMEM43):c.895A>G (p.Arg299Gly)
|
rs757038162
|
0.00001
|
NM_024334.3(TMEM43):c.940G>C (p.Ala314Pro)
|
rs1431861933
|
0.00001
|
NM_024334.3(TMEM43):c.959T>G (p.Phe320Cys)
|
rs886787374
|
0.00001
|
NM_024334.3(TMEM43):c.961A>G (p.Met321Val)
|
rs397517387
|
0.00001
|
NM_024334.3(TMEM43):c.973C>T (p.Leu325Phe)
|
rs373644386
|
0.00001
|
NM_024334.3(TMEM43):c.982C>T (p.Arg328Trp)
|
rs561883271
|
0.00001
|
NM_024334.3(TMEM43):c.983G>A (p.Arg328Gln)
|
rs185611706
|
0.00001
|
NM_024334.3(TMEM43):c.997T>G (p.Leu333Val)
|
rs1487754536
|
0.00001
|
NC_000003.11:g.(?_14166440)_(14185180_?)dup
|
|
|
NC_000003.11:g.(?_14166684)_(14183305_?)del
|
|
|
NC_000003.11:g.(?_14166694)_(14183295_?)dup
|
|
|
NC_000003.11:g.(?_14180660)_(14180817_?)del
|
|
|
NC_000003.12:g.(?_14125184)_(14141805_?)dup
|
|
|
NM_001407276.1(TMEM43):c.883-2_883del
|
|
|
NM_024334.3(TMEM43):c.1000+3A>G
|
rs1695218964
|
|
NM_024334.3(TMEM43):c.1001dup (p.Asp335fs)
|
|
|
NM_024334.3(TMEM43):c.1004A>G (p.Asp335Gly)
|
rs1553603641
|
|
NM_024334.3(TMEM43):c.100G>A (p.Gly34Ser)
|
rs1376541965
|
|
NM_024334.3(TMEM43):c.1013C>T (p.Pro338Leu)
|
rs17856369
|
|
NM_024334.3(TMEM43):c.1015G>A (p.Val339Ile)
|
|
|
NM_024334.3(TMEM43):c.1019T>C (p.Phe340Ser)
|
rs1559363663
|
|
NM_024334.3(TMEM43):c.1028T>A (p.Leu343Gln)
|
|
|
NM_024334.3(TMEM43):c.1028T>C (p.Leu343Pro)
|
|
|
NM_024334.3(TMEM43):c.1034A>G (p.Asn345Ser)
|
rs758981622
|
|
NM_024334.3(TMEM43):c.1036A>G (p.Ile346Val)
|
rs2124997196
|
|
NM_024334.3(TMEM43):c.1042C>G (p.Leu348Val)
|
rs769793469
|
|
NM_024334.3(TMEM43):c.1061G>T (p.Cys354Phe)
|
rs187262922
|
|
NM_024334.3(TMEM43):c.106A>G (p.Met36Val)
|
|
|
NM_024334.3(TMEM43):c.1079C>T (p.Thr360Ile)
|
rs1181935816
|
|
NM_024334.3(TMEM43):c.107T>A (p.Met36Lys)
|
rs1695064880
|
|
NM_024334.3(TMEM43):c.1090G>C (p.Val364Leu)
|
rs754236206
|
|
NM_024334.3(TMEM43):c.1094C>T (p.Ala365Val)
|
rs1052317732
|
|
NM_024334.3(TMEM43):c.1097C>T (p.Ala366Val)
|
|
|
NM_024334.3(TMEM43):c.1100G>A (p.Gly367Asp)
|
rs794729179
|
|
NM_024334.3(TMEM43):c.110T>G (p.Phe37Cys)
|
rs1695064977
|
|
NM_024334.3(TMEM43):c.1110C>G (p.Phe370Leu)
|
|
|
NM_024334.3(TMEM43):c.1112A>C (p.Tyr371Ser)
|
rs752269639
|
|
NM_024334.3(TMEM43):c.1117C>A (p.Pro373Thr)
|
rs770871762
|
|
NM_024334.3(TMEM43):c.1121T>C (p.Leu374Pro)
|
rs2124997342
|
|
NM_024334.3(TMEM43):c.1127C>A (p.Ala376Asp)
|
|
|
NM_024334.3(TMEM43):c.1129C>T (p.Leu377Phe)
|
|
|
NM_024334.3(TMEM43):c.112G>A (p.Val38Met)
|
rs977468112
|
|
NM_024334.3(TMEM43):c.1139C>G (p.Ala380Gly)
|
|
|
NM_024334.3(TMEM43):c.113T>A (p.Val38Glu)
|
rs1695065091
|
|
NM_024334.3(TMEM43):c.1150C>G (p.Leu384Val)
|
rs193922706
|
|
NM_024334.3(TMEM43):c.1150C>T (p.Leu384Phe)
|
rs193922706
|
|
NM_024334.3(TMEM43):c.1153G>A (p.Val385Met)
|
|
|
NM_024334.3(TMEM43):c.1156C>T (p.Pro386Ser)
|
rs1430520295
|
|
NM_024334.3(TMEM43):c.1159A>G (p.Ile387Val)
|
rs541565919
|
|
NM_024334.3(TMEM43):c.1165G>A (p.Val389Ile)
|
|
|
NM_024334.3(TMEM43):c.1165G>T (p.Val389Phe)
|
rs1308027129
|
|
NM_024334.3(TMEM43):c.1171C>T (p.Arg391Trp)
|
rs1574942204
|
|
NM_024334.3(TMEM43):c.1172_1184del (p.Arg391fs)
|
rs2124997454
|
|
NM_024334.3(TMEM43):c.1196T>G (p.Leu399Trp)
|
rs1559363776
|
|
NM_024334.3(TMEM43):c.1198G>T (p.Glu400Ter)
|
rs1252529536
|
|
NM_024334.3(TMEM43):c.11A>T (p.Asn4Ile)
|
|
|
NM_024334.3(TMEM43):c.12+2T>C
|
|
|
NM_024334.3(TMEM43):c.12+4A>C
|
rs2124981822
|
|
NM_024334.3(TMEM43):c.124G>T (p.Ala42Ser)
|
rs2124985701
|
|
NM_024334.3(TMEM43):c.13-2A>C
|
|
|
NM_024334.3(TMEM43):c.13-3C>T
|
|
|
NM_024334.3(TMEM43):c.136T>A (p.Ser46Thr)
|
rs145510310
|
|
NM_024334.3(TMEM43):c.140_142del (p.Phe47del)
|
|
|
NM_024334.3(TMEM43):c.143A>C (p.Tyr48Ser)
|
rs1553602871
|
|
NM_024334.3(TMEM43):c.14A>G (p.Tyr5Cys)
|
|
|
NM_024334.3(TMEM43):c.162+1G>A
|
rs1695065907
|
|
NM_024334.3(TMEM43):c.162G>C (p.Glu54Asp)
|
rs746126153
|
|
NM_024334.3(TMEM43):c.169G>T (p.Ala57Ser)
|
rs151010429
|
|
NM_024334.3(TMEM43):c.178A>G (p.Thr60Ala)
|
rs1695084121
|
|
NM_024334.3(TMEM43):c.193G>A (p.Ala65Thr)
|
rs1695084511
|
|
NM_024334.3(TMEM43):c.200G>T (p.Gly67Val)
|
rs766792876
|
|
NM_024334.3(TMEM43):c.203T>C (p.Leu68Pro)
|
rs1553602940
|
|
NM_024334.3(TMEM43):c.218C>G (p.Ser73Cys)
|
rs200652985
|
|
NM_024334.3(TMEM43):c.21T>G (p.Ser7Arg)
|
rs371236613
|
|
NM_024334.3(TMEM43):c.235A>C (p.Ser79Arg)
|
rs930770110
|
|
NM_024334.3(TMEM43):c.236del (p.Ser79fs)
|
|
|
NM_024334.3(TMEM43):c.241G>A (p.Ala81Thr)
|
rs1695085843
|
|
NM_024334.3(TMEM43):c.241del (p.Ala81fs)
|
|
|
NM_024334.3(TMEM43):c.257G>A (p.Gly86Glu)
|
rs771454768
|
|
NM_024334.3(TMEM43):c.281C>T (p.Ala94Val)
|
|
|
NM_024334.3(TMEM43):c.286C>T (p.Arg96Trp)
|
|
|
NM_024334.3(TMEM43):c.287G>A (p.Arg96Gln)
|
rs748343919
|
|
NM_024334.3(TMEM43):c.287G>C (p.Arg96Pro)
|
rs748343919
|
|
NM_024334.3(TMEM43):c.289A>T (p.Thr97Ser)
|
rs1695087564
|
|
NM_024334.3(TMEM43):c.295A>G (p.Lys99Glu)
|
|
|
NM_024334.3(TMEM43):c.296A>G (p.Lys99Arg)
|
rs199943048
|
|
NM_024334.3(TMEM43):c.298-5T>A
|
rs1027914711
|
|
NM_024334.3(TMEM43):c.305C>G (p.Ser102Cys)
|
|
|
NM_024334.3(TMEM43):c.313A>G (p.Asn105Asp)
|
|
|
NM_024334.3(TMEM43):c.322G>T (p.Val108Phe)
|
|
|
NM_024334.3(TMEM43):c.326A>G (p.His109Arg)
|
rs1398278496
|
|
NM_024334.3(TMEM43):c.329_330del (p.Leu110fs)
|
rs2124987821
|
|
NM_024334.3(TMEM43):c.331C>G (p.Pro111Ala)
|
rs2124987826
|
|
NM_024334.3(TMEM43):c.332C>A (p.Pro111Gln)
|
rs765816901
|
|
NM_024334.3(TMEM43):c.332C>T (p.Pro111Leu)
|
|
|
NM_024334.3(TMEM43):c.337G>A (p.Val113Met)
|
rs572474708
|
|
NM_024334.3(TMEM43):c.348del (p.Arg117fs)
|
rs2124987856
|
|
NM_024334.3(TMEM43):c.351dup (p.His118fs)
|
|
|
NM_024334.3(TMEM43):c.352C>T (p.His118Tyr)
|
|
|
NM_024334.3(TMEM43):c.362T>C (p.Met121Thr)
|
rs1286177938
|
|
NM_024334.3(TMEM43):c.362T>G (p.Met121Arg)
|
rs1286177938
|
|
NM_024334.3(TMEM43):c.363G>A (p.Met121Ile)
|
rs1695097590
|
|
NM_024334.3(TMEM43):c.369A>G (p.Gln123=)
|
rs2124987912
|
|
NM_024334.3(TMEM43):c.371G>A (p.Trp124Ter)
|
rs2124987915
|
|
NM_024334.3(TMEM43):c.384G>C (p.Glu128Asp)
|
|
|
NM_024334.3(TMEM43):c.391A>C (p.Arg131=)
|
rs2124987934
|
|
NM_024334.3(TMEM43):c.392+4A>G
|
rs397517382
|
|
NM_024334.3(TMEM43):c.393G>A (p.Arg131=)
|
rs1695110759
|
|
NM_024334.3(TMEM43):c.394G>A (p.Glu132Lys)
|
|
|
NM_024334.3(TMEM43):c.394G>T (p.Glu132Ter)
|
rs1315939046
|
|
NM_024334.3(TMEM43):c.395A>C (p.Glu132Ala)
|
|
|
NM_024334.3(TMEM43):c.396G>C (p.Glu132Asp)
|
rs1553603024
|
|
NM_024334.3(TMEM43):c.396G>T (p.Glu132Asp)
|
rs1553603024
|
|
NM_024334.3(TMEM43):c.40C>T (p.His14Tyr)
|
|
|
NM_024334.3(TMEM43):c.418AAG[1] (p.Lys141del)
|
rs746639451
|
|
NM_024334.3(TMEM43):c.421A>G (p.Lys141Glu)
|
|
|
NM_024334.3(TMEM43):c.424G>C (p.Glu142Gln)
|
rs145619906
|
|
NM_024334.3(TMEM43):c.443-13T>G
|
|
|
NM_024334.3(TMEM43):c.443-2A>T
|
|
|
NM_024334.3(TMEM43):c.443A>G (p.Asn148Ser)
|
rs1046932119
|
|
NM_024334.3(TMEM43):c.446C>T (p.Thr149Ile)
|
rs1695115690
|
|
NM_024334.3(TMEM43):c.458C>T (p.Ser153Leu)
|
rs1369869806
|
|
NM_024334.3(TMEM43):c.464TCA[1] (p.Ile156del)
|
rs1574938257
|
|
NM_024334.3(TMEM43):c.473G>A (p.Ser158Asn)
|
rs1695116123
|
|
NM_024334.3(TMEM43):c.47A>G (p.Lys16Arg)
|
rs770619613
|
|
NM_024334.3(TMEM43):c.482del (p.Phe161fs)
|
rs769722980
|
|
NM_024334.3(TMEM43):c.485A>G (p.Asp162Gly)
|
rs1312639832
|
|
NM_024334.3(TMEM43):c.488G>A (p.Arg163Gln)
|
rs759676847
|
|
NM_024334.3(TMEM43):c.492G>C (p.Glu164Asp)
|
rs949064136
|
|
NM_024334.3(TMEM43):c.497G>T (p.Gly166Val)
|
|
|
NM_024334.3(TMEM43):c.499C>G (p.His167Asp)
|
rs1553603052
|
|
NM_024334.3(TMEM43):c.4G>C (p.Ala2Pro)
|
rs1695000807
|
|
NM_024334.3(TMEM43):c.502A>G (p.Lys168Glu)
|
|
|
NM_024334.3(TMEM43):c.511A>G (p.Ser171Gly)
|
|
|
NM_024334.3(TMEM43):c.511A>T (p.Ser171Cys)
|
rs2124989219
|
|
NM_024334.3(TMEM43):c.544G>A (p.Ala182Thr)
|
rs757013233
|
|
NM_024334.3(TMEM43):c.545C>T (p.Ala182Val)
|
rs1394010451
|
|
NM_024334.3(TMEM43):c.548C>T (p.Pro183Leu)
|
rs746116143
|
|
NM_024334.3(TMEM43):c.548_559del (p.Pro183_Ile187delinsLeu)
|
|
|
NM_024334.3(TMEM43):c.556C>T (p.Gln186Ter)
|
rs1553603107
|
|
NM_024334.3(TMEM43):c.55del (p.Thr19fs)
|
|
|
NM_024334.3(TMEM43):c.568T>A (p.Phe190Ile)
|
rs768718054
|
|
NM_024334.3(TMEM43):c.583+4A>G
|
rs1574938748
|
|
NM_024334.3(TMEM43):c.583+5G>A
|
|
|
NM_024334.3(TMEM43):c.584G>C (p.Gly195Ala)
|
rs1458517961
|
|
NM_024334.3(TMEM43):c.584G>T (p.Gly195Val)
|
|
|
NM_024334.3(TMEM43):c.599T>C (p.Val200Ala)
|
rs2124990795
|
|
NM_024334.3(TMEM43):c.59G>A (p.Ser20Asn)
|
|
|
NM_024334.3(TMEM43):c.59G>C (p.Ser20Thr)
|
rs1261978753
|
|
NM_024334.3(TMEM43):c.605A>T (p.Asn202Ile)
|
rs958959766
|
|
NM_024334.3(TMEM43):c.611A>G (p.Lys204Arg)
|
rs568657650
|
|
NM_024334.3(TMEM43):c.614C>T (p.Ser205Phe)
|
rs769787683
|
|
NM_024334.3(TMEM43):c.62C>G (p.Ser21Cys)
|
|
|
NM_024334.3(TMEM43):c.631C>G (p.Leu211Val)
|
rs1209223184
|
|
NM_024334.3(TMEM43):c.634G>C (p.Glu212Gln)
|
|
|
NM_024334.3(TMEM43):c.640C>G (p.Pro214Ala)
|
rs1574939150
|
|
NM_024334.3(TMEM43):c.644A>T (p.His215Leu)
|
rs730880225
|
|
NM_024334.3(TMEM43):c.645T>G (p.His215Gln)
|
rs370782259
|
|
NM_024334.3(TMEM43):c.646G>T (p.Val216Leu)
|
rs143735210
|
|
NM_024334.3(TMEM43):c.652A>G (p.Ile218Val)
|
|
|
NM_024334.3(TMEM43):c.65A>G (p.Gln22Arg)
|
|
|
NM_024334.3(TMEM43):c.662G>T (p.Arg221Leu)
|
|
|
NM_024334.3(TMEM43):c.667G>T (p.Asp223Tyr)
|
|
|
NM_024334.3(TMEM43):c.668A>T (p.Asp223Val)
|
|
|
NM_024334.3(TMEM43):c.66_67insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAACCAGCTCCCAG (p.Pro23delinsAlaGlyArgGlyGlySerArgLeuTer)
|
|
|
NM_024334.3(TMEM43):c.670T>C (p.Phe224Leu)
|
rs1695146244
|
|
NM_024334.3(TMEM43):c.674del (p.Phe225fs)
|
rs1559361774
|
|
NM_024334.3(TMEM43):c.675C>G (p.Phe225Leu)
|
rs1559361776
|
|
NM_024334.3(TMEM43):c.679C>T (p.His227Tyr)
|
rs201460674
|
|
NM_024334.3(TMEM43):c.685G>A (p.Glu229Lys)
|
rs1304261093
|
|
NM_024334.3(TMEM43):c.696G>C (p.Lys232Asn)
|
|
|
NM_024334.3(TMEM43):c.699T>A (p.Tyr233Ter)
|
rs1321317891
|
|
NM_024334.3(TMEM43):c.699T>C (p.Tyr233=)
|
|
|
NM_024334.3(TMEM43):c.703G>A (p.Glu235Lys)
|
rs1574939228
|
|
NM_024334.3(TMEM43):c.704A>G (p.Glu235Gly)
|
rs751419150
|
|
NM_024334.3(TMEM43):c.706-1G>A
|
rs764377071
|
|
NM_024334.3(TMEM43):c.706-1G>T
|
|
|
NM_024334.3(TMEM43):c.706-3C>A
|
|
|
NM_024334.3(TMEM43):c.710G>A (p.Gly237Glu)
|
|
|
NM_024334.3(TMEM43):c.712G>A (p.Asp238Asn)
|
rs2124991270
|
|
NM_024334.3(TMEM43):c.718C>G (p.Arg240Gly)
|
rs367910936
|
|
NM_024334.3(TMEM43):c.725C>G (p.Ser242Cys)
|
|
|
NM_024334.3(TMEM43):c.743T>C (p.Leu248Pro)
|
rs774356401
|
|
NM_024334.3(TMEM43):c.749dup (p.Asp251fs)
|
rs1695151947
|
|
NM_024334.3(TMEM43):c.760_780+2dup
|
rs1559361931
|
|
NM_024334.3(TMEM43):c.764T>C (p.Leu255Pro)
|
rs1343395046
|
|
NM_024334.3(TMEM43):c.767G>A (p.Gly256Asp)
|
rs2124991379
|
|
NM_024334.3(TMEM43):c.778G>T (p.Val260Leu)
|
|
|
NM_024334.3(TMEM43):c.77T>C (p.Leu26Pro)
|
rs2124985579
|
|
NM_024334.3(TMEM43):c.780+5C>A
|
|
|
NM_024334.3(TMEM43):c.781-7T>A
|
|
|
NM_024334.3(TMEM43):c.788_789del (p.Val263fs)
|
rs1489814713
|
|
NM_024334.3(TMEM43):c.7G>A (p.Ala3Thr)
|
|
|
NM_024334.3(TMEM43):c.803G>A (p.Arg268Gln)
|
rs769969149
|
|
NM_024334.3(TMEM43):c.809A>G (p.Asp270Gly)
|
rs1201367358
|
|
NM_024334.3(TMEM43):c.824T>G (p.Phe275Cys)
|
|
|
NM_024334.3(TMEM43):c.833A>G (p.Lys278Arg)
|
rs1427535931
|
|
NM_024334.3(TMEM43):c.834G>C (p.Lys278Asn)
|
|
|
NM_024334.3(TMEM43):c.83G>C (p.Arg28Pro)
|
rs757651177
|
|
NM_024334.3(TMEM43):c.841G>A (p.Asp281Asn)
|
|
|
NM_024334.3(TMEM43):c.844A>G (p.Thr282Ala)
|
|
|
NM_024334.3(TMEM43):c.850C>G (p.Leu284Val)
|
rs727504764
|
|
NM_024334.3(TMEM43):c.852_853delinsAA (p.Leu285Ile)
|
rs1695163023
|
|
NM_024334.3(TMEM43):c.861C>G (p.His287Gln)
|
rs886039048
|
|
NM_024334.3(TMEM43):c.862C>T (p.His288Tyr)
|
rs771028028
|
|
NM_024334.3(TMEM43):c.866G>A (p.Gly289Glu)
|
|
|
NM_024334.3(TMEM43):c.877G>A (p.Ala293Thr)
|
rs1060501357
|
|
NM_024334.3(TMEM43):c.878C>A (p.Ala293Glu)
|
rs1695163617
|
|
NM_024334.3(TMEM43):c.886G>A (p.Val296Met)
|
rs1695216015
|
|
NM_024334.3(TMEM43):c.887T>C (p.Val296Ala)
|
|
|
NM_024334.3(TMEM43):c.889T>A (p.Phe297Ile)
|
rs990243563
|
|
NM_024334.3(TMEM43):c.895dup (p.Arg299fs)
|
rs1695216412
|
|
NM_024334.3(TMEM43):c.898G>T (p.Glu300Ter)
|
rs746029667
|
|
NM_024334.3(TMEM43):c.905G>A (p.Arg302Lys)
|
rs539945827
|
|
NM_024334.3(TMEM43):c.908G>A (p.Ser303Asn)
|
|
|
NM_024334.3(TMEM43):c.914C>A (p.Ser305Tyr)
|
rs777277570
|
|
NM_024334.3(TMEM43):c.917_918delinsCT (p.Met306Thr)
|
rs1553603453
|
|
NM_024334.3(TMEM43):c.923C>T (p.Thr308Ile)
|
|
|
NM_024334.3(TMEM43):c.925T>C (p.Trp309Arg)
|
|
|
NM_024334.3(TMEM43):c.928G>T (p.Gly310Cys)
|
|
|
NM_024334.3(TMEM43):c.929del (p.Gly310fs)
|
rs2124995245
|
|
NM_024334.3(TMEM43):c.937G>A (p.Ala313Thr)
|
rs2124995269
|
|
NM_024334.3(TMEM43):c.944G>T (p.Gly315Val)
|
|
|
NM_024334.3(TMEM43):c.955A>G (p.Met319Val)
|
|
|
NM_024334.3(TMEM43):c.965G>T (p.Gly322Val)
|
rs1553603462
|
|
NM_024334.3(TMEM43):c.970A>G (p.Asn324Asp)
|
rs1365389365
|
|
NM_024334.3(TMEM43):c.971A>T (p.Asn324Ile)
|
|
|
NM_024334.3(TMEM43):c.971del (p.Asn324fs)
|
rs1553603465
|
|
NM_024334.3(TMEM43):c.985A>C (p.Ile329Leu)
|
rs1060501358
|
|
NM_024334.3(TMEM43):c.992A>G (p.Tyr331Cys)
|
|
|
NM_024334.3(TMEM43):c.99_120del (p.Gly34fs)
|
|
|