NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro)
|
rs104893747
|
0.00004
|
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys)
|
rs104894387
|
0.00003
|
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys)
|
rs745795470
|
0.00002
|
NM_000899.5(KITLG):c.94C>T (p.Arg32Cys)
|
rs1870699640
|
0.00001
|
NM_001354604.2(MITF):c.355-1062G>C
|
rs1236436555
|
0.00001
|
NM_006941.4(SOX10):c.482G>A (p.Arg161His)
|
rs750566714
|
0.00001
|
NM_181458.4(PAX3):c.706C>A (p.Arg236Ser)
|
rs769650688
|
0.00001
|
NM_181458.4(PAX3):c.808C>T (p.Arg270Cys)
|
rs1228590199
|
0.00001
|
GRCh37/hg19 22q13.1(chr22:38155164-38541997)
|
|
|
GRCh37/hg19 2q36.1(chr2:222199886-222298997)
|
|
|
GRCh37/hg19 2q36.1-36.2(chr2:222902251-226084516)
|
|
|
GRCh37/hg19 3p13(chr3:69985815-69985964)
|
|
|
GRCh37/hg19 3p14.1-13(chr3:69739463-69968331)
|
|
|
GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1
|
|
|
NC_000003.11:g.(?_69985874)_(69990502_?)del
|
|
|
NC_000003.11:g.(?_69985874)_(70014399_?)del
|
|
|
NC_000003.11:g.(?_70013978)_(70014399_?)del
|
|
|
NM_000248.4(MITF):c.33+1G>A
|
rs1553701477
|
|
NM_000899.5(KITLG):c.443T>C (p.Ile148Thr)
|
rs751013211
|
|
NM_000899.5(KITLG):c.550_551del (p.Met184fs)
|
rs1404903521
|
|
NM_001122659.3(EDNRB):c.292G>T (p.Glu98Ter)
|
|
|
NM_001122659.3(EDNRB):c.521del (p.Cys174fs)
|
rs1458799604
|
|
NM_001122659.3(EDNRB):c.548C>G (p.Ala183Gly)
|
rs104894388
|
|
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter)
|
rs768126403
|
|
NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter)
|
rs104894391
|
|
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter)
|
rs104894390
|
|
NM_001354604.2(MITF):c.1000dup (p.Leu334fs)
|
rs1576047519
|
|
NM_001354604.2(MITF):c.1031+1G>A
|
rs1559749017
|
|
NM_001354604.2(MITF):c.1061T>G (p.Leu354Ter)
|
rs2107537021
|
|
NM_001354604.2(MITF):c.1069T>C (p.Ser357Pro)
|
rs104893744
|
|
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter)
|
rs1057517966
|
|
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter)
|
rs2066482593
|
|
NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter)
|
rs876657699
|
|
NM_001354604.2(MITF):c.1145del (p.Glu382fs)
|
rs1553705282
|
|
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter)
|
rs1464157509
|
|
NM_001354604.2(MITF):c.1208del (p.Gly403fs)
|
rs878853234
|
|
NM_001354604.2(MITF):c.1230G>A (p.Thr410=)
|
rs1057521096
|
|
NM_001354604.2(MITF):c.1273G>T (p.Glu425Ter)
|
rs149617956
|
|
NM_001354604.2(MITF):c.1291dup (p.Cys431fs)
|
rs2107552171
|
|
NM_001354604.2(MITF):c.1377del (p.Asn459fs)
|
rs2066652447
|
|
NM_001354604.2(MITF):c.367del (p.Leu123fs)
|
|
|
NM_001354604.2(MITF):c.440T>G (p.Leu147Ter)
|
|
|
NM_001354604.2(MITF):c.643_644dup (p.Ser216fs)
|
|
|
NM_001354604.2(MITF):c.644dup (p.His215fs)
|
rs2107483975
|
|
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter)
|
rs1553702006
|
|
NM_001354604.2(MITF):c.709dup (p.Tyr237fs)
|
rs2065962813
|
|
NM_001354604.2(MITF):c.763-2A>C
|
rs1553703612
|
|
NM_001354604.2(MITF):c.764T>A (p.Leu255Ter)
|
|
|
NM_001354604.2(MITF):c.808C>T (p.Leu270=)
|
rs1439150504
|
|
NM_001354604.2(MITF):c.815del (p.Pro272fs)
|
|
|
NM_001354604.2(MITF):c.939G>C (p.Lys313Asn)
|
rs1057519325
|
|
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)
|
rs1553704097
|
|
NM_001354604.2(MITF):c.955+1G>C
|
rs2107519634
|
|
NM_001354604.2(MITF):c.956-1G>A
|
rs1057519327
|
|
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)
|
rs104893746
|
|
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del)
|
rs1553704814
|
|
NM_001354604.2(MITF):c.967del (p.Arg323fs)
|
rs2066400236
|
|
NM_001354604.2(MITF):c.969_973del (p.Arg323fs)
|
rs2066400330
|
|
NM_001354604.2(MITF):c.970A>G (p.Arg324Gly)
|
rs1057519326
|
|
NM_001354604.2(MITF):c.997G>T (p.Glu333Ter)
|
rs147682682
|
|
NM_006941.4(SOX10):c.1063C>T (p.Gln355Ter)
|
rs1932137446
|
|
NM_006941.4(SOX10):c.1077_1078del (p.Glu359fs)
|
rs397515367
|
|
NM_006941.4(SOX10):c.1090C>T (p.Gln364Ter)
|
rs1555937400
|
|
NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter)
|
rs74315520
|
|
NM_006941.4(SOX10):c.1160_1179dup (p.Ser394fs)
|
rs1601878759
|
|
NM_006941.4(SOX10):c.1169C>G (p.Ser390Ter)
|
rs1569167607
|
|
NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter)
|
rs1932130190
|
|
NM_006941.4(SOX10):c.1195_1196del (p.Gln399fs)
|
|
|
NM_006941.4(SOX10):c.1205_1209del (p.Asp401_Tyr402insTer)
|
rs1569167586
|
|
NM_006941.4(SOX10):c.127C>T (p.Arg43Ter)
|
rs1555939523
|
|
NM_006941.4(SOX10):c.12_13delinsAT (p.Gln5Ter)
|
rs2145777835
|
|
NM_006941.4(SOX10):c.1315_1329del (p.Ile439_Ser443del)
|
rs1569167515
|
|
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs)
|
rs1601878540
|
|
NM_006941.4(SOX10):c.1379del (p.Tyr460fs)
|
rs1932122748
|
|
NM_006941.4(SOX10):c.198_262del (p.Lys67fs)
|
rs2145777238
|
|
NM_006941.4(SOX10):c.232C>T (p.Gln78Ter)
|
rs1555939491
|
|
NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter)
|
rs73415876
|
|
NM_006941.4(SOX10):c.267del (p.Met90fs)
|
rs2145777226
|
|
NM_006941.4(SOX10):c.299_300insA (p.Ser100fs)
|
rs2145777129
|
|
NM_006941.4(SOX10):c.323T>C (p.Met108Thr)
|
rs1932464492
|
|
NM_006941.4(SOX10):c.326A>G (p.Asn109Ser)
|
rs1932464388
|
|
NM_006941.4(SOX10):c.336G>A (p.Met112Ile)
|
rs2145777042
|
|
NM_006941.4(SOX10):c.341G>A (p.Trp114Ter)
|
rs1932463755
|
|
NM_006941.4(SOX10):c.366_376del (p.Ala123fs)
|
rs2145776991
|
|
NM_006941.4(SOX10):c.376_377insG (p.Tyr126Ter)
|
|
|
NM_006941.4(SOX10):c.424T>C (p.Trp142Arg)
|
rs1555939408
|
|
NM_006941.4(SOX10):c.426G>T (p.Trp142Cys)
|
rs1555939403
|
|
NM_006941.4(SOX10):c.428+1G>A
|
rs1932460904
|
|
NM_006941.4(SOX10):c.429-1G>A
|
rs1569169328
|
|
NM_006941.4(SOX10):c.448A>G (p.Lys150Glu)
|
rs1932280017
|
|
NM_006941.4(SOX10):c.448A>T (p.Lys150Ter)
|
rs1932280017
|
|
NM_006941.4(SOX10):c.44_62del (p.Val15fs)
|
rs1555939564
|
|
NM_006941.4(SOX10):c.463G>T (p.Glu155Ter)
|
rs1932279377
|
|
NM_006941.4(SOX10):c.470C>T (p.Ala157Val)
|
rs121909117
|
|
NM_006941.4(SOX10):c.479T>C (p.Leu160Pro)
|
rs1482985217
|
|
NM_006941.4(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu)
|
rs397515366
|
|
NM_006941.4(SOX10):c.487C>T (p.Gln163Ter)
|
rs1569169289
|
|
NM_006941.4(SOX10):c.502del (p.His168fs)
|
rs1932278265
|
|
NM_006941.4(SOX10):c.520C>T (p.Gln174Ter)
|
rs2145768481
|
|
NM_006941.4(SOX10):c.523C>T (p.Pro175Ser)
|
rs1555938395
|
|
NM_006941.4(SOX10):c.529_556del (p.Arg177fs)
|
rs2145768352
|
|
NM_006941.4(SOX10):c.565G>T (p.Glu189Ter)
|
rs74315514
|
|
NM_006941.4(SOX10):c.570C>A (p.Cys190Ter)
|
rs756120041
|
|
NM_006941.4(SOX10):c.621C>G (p.Tyr207Ter)
|
rs281797260
|
|
NM_006941.4(SOX10):c.698-740_1085delinsCCT
|
|
|
NM_006941.4(SOX10):c.776_780del (p.Asp259fs)
|
rs1932149722
|
|
NM_006941.4(SOX10):c.7G>T (p.Glu3Ter)
|
rs1932482365
|
|
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)
|
rs1932477493
|
|
NM_181457.3(PAX3):c.242G>C (p.Gly81Ala)
|
rs587776586
|
|
NM_181458.4(PAX3):c.*175C>T
|
rs780660984
|
|
NM_181458.4(PAX3):c.1076_1077del (p.Thr359fs)
|
rs1574646155
|
|
NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter)
|
rs147111779
|
|
NM_181458.4(PAX3):c.123del (p.Gly42fs)
|
rs2106204266
|
|
NM_181458.4(PAX3):c.127G>T (p.Gly43Cys)
|
rs1574772091
|
|
NM_181458.4(PAX3):c.139A>C (p.Asn47His)
|
rs104893653
|
|
NM_181458.4(PAX3):c.142G>C (p.Gly48Arg)
|
rs1419548558
|
|
NM_181458.4(PAX3):c.143del (p.Gly48fs)
|
rs1695346408
|
|
NM_181458.4(PAX3):c.149C>T (p.Pro50Leu)
|
rs104893650
|
|
NM_181458.4(PAX3):c.167G>T (p.Arg56Leu)
|
rs267606931
|
|
NM_181458.4(PAX3):c.185_202del (p.Met62_Ile67del)
|
rs1559320436
|
|
NM_181458.4(PAX3):c.210C>A (p.Cys70Ter)
|
rs1356246522
|
|
NM_181458.4(PAX3):c.218C>T (p.Ser73Leu)
|
rs1553593928
|
|
NM_181458.4(PAX3):c.238C>G (p.His80Asp)
|
rs387906947
|
|
NM_181458.4(PAX3):c.238C>T (p.His80Tyr)
|
|
|
NM_181458.4(PAX3):c.241G>C (p.Gly81Arg)
|
rs483353059
|
|
NM_181458.4(PAX3):c.251C>T (p.Ser84Phe)
|
rs104893651
|
|
NM_181458.4(PAX3):c.264del (p.Leu87_Cys88insTer)
|
rs1695337485
|
|
NM_181458.4(PAX3):c.268T>C (p.Tyr90His)
|
rs104893654
|
|
NM_181458.4(PAX3):c.268_281del (p.Tyr90fs)
|
rs1559320252
|
|
NM_181458.4(PAX3):c.288del (p.Arg97fs)
|
|
|
NM_181458.4(PAX3):c.365_369del (p.Lys122fs)
|
rs1559318562
|
|
NM_181458.4(PAX3):c.366_367del (p.Asn125fs)
|
rs2106200406
|
|
NM_181458.4(PAX3):c.372_373del (p.Asn125fs)
|
rs2106200388
|
|
NM_181458.4(PAX3):c.386_398del (p.Phe129fs)
|
rs1559318494
|
|
NM_181458.4(PAX3):c.415A>T (p.Lys139Ter)
|
rs876661317
|
|
NM_181458.4(PAX3):c.556del (p.His186fs)
|
rs1559316542
|
|
NM_181458.4(PAX3):c.558_559del (p.His186fs)
|
rs1559316535
|
|
NM_181458.4(PAX3):c.586+2T>A
|
rs2106196576
|
|
NM_181458.4(PAX3):c.667C>T (p.Arg223Ter)
|
rs772241382
|
|
NM_181458.4(PAX3):c.671C>T (p.Thr224Ile)
|
rs1692623308
|
|
NM_181458.4(PAX3):c.713T>C (p.Phe238Ser)
|
rs2106095147
|
|
NM_181458.4(PAX3):c.784C>T (p.Arg262Ter)
|
rs886041319
|
|
NM_181458.4(PAX3):c.811C>T (p.Arg271Cys)
|
rs1380858784
|
|
NM_181458.4(PAX3):c.812G>A (p.Arg271His)
|
rs774528745
|
|
NM_181458.4(PAX3):c.829C>T (p.Gln277Ter)
|
rs2106074565
|
|
NM_181458.4(PAX3):c.879dup (p.Phe294fs)
|
rs1553572967
|
|
NM_181458.4(PAX3):c.925dup (p.Glu309fs)
|
rs1692180906
|
|
NM_207034.3(EDN3):c.262_263delinsT (p.Ala88fs)
|
rs1568823517
|
|
NM_207034.3(EDN3):c.277C>G (p.Arg93Gly)
|
rs267606779
|
|
NM_207034.3(EDN3):c.335A>G (p.His112Arg)
|
rs267606778
|
|
NM_207034.3(EDN3):c.476G>T (p.Cys159Phe)
|
rs74315384
|
|
NM_207034.3(EDN3):c.507C>A (p.Cys169Ter)
|
rs74315385
|
|
Single allele
|
|
|