NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met)
|
rs781214034
|
0.00003
|
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys)
|
rs745795470
|
0.00002
|
NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter)
|
rs199927859
|
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
|
NC_000003.11:g.(?_69987065)_(69997137_?)del
|
|
|
NM_001122659.3(EDNRB):c.550T>C (p.Ser184Pro)
|
rs1555290659
|
|
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter)
|
rs768126403
|
|
NM_001122659.3(EDNRB):c.777del (p.Val260fs)
|
rs2137610942
|
|
NM_001122659.3(EDNRB):c.801+1G>T
|
rs2137610842
|
|
NM_001122659.3(EDNRB):c.801+2T>C
|
rs2137610838
|
|
NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter)
|
rs1553704841
|
|
NM_001354604.2(MITF):c.1031+1G>A
|
rs1559749017
|
|
NM_001354604.2(MITF):c.1031+4A>C
|
rs1553704850
|
|
NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly)
|
rs1559751245
|
|
NM_001354604.2(MITF):c.1052G>A (p.Gly351Glu)
|
rs2107536936
|
|
NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr)
|
rs2107537096
|
|
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter)
|
rs1057517966
|
|
NM_001354604.2(MITF):c.1180-2A>G
|
rs1064797294
|
|
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter)
|
rs1464157509
|
|
NM_001354604.2(MITF):c.1230G>A (p.Thr410=)
|
rs1057521096
|
|
NM_001354604.2(MITF):c.1274_1295dup (p.Ser432delinsArgThrArgSerTer)
|
rs2107552061
|
|
NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter)
|
rs2107478777
|
|
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter)
|
rs1553702006
|
|
NM_001354604.2(MITF):c.660_666+6del
|
|
|
NM_001354604.2(MITF):c.666+1G>A
|
rs1246772999
|
|
NM_001354604.2(MITF):c.730_731delinsCC (p.Leu244Pro)
|
rs1553702406
|
|
NM_001354604.2(MITF):c.762+1G>A
|
|
|
NM_001354604.2(MITF):c.794A>G (p.Tyr265Cys)
|
rs1057518765
|
|
NM_001354604.2(MITF):c.899_900del (p.Glu300fs)
|
rs2107519404
|
|
NM_001354604.2(MITF):c.925G>A (p.Glu309Lys)
|
rs1553704086
|
|
NM_001354604.2(MITF):c.928A>G (p.Arg310Gly)
|
rs2066264802
|
|
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)
|
rs1553704097
|
|
NM_001354604.2(MITF):c.953_955+3del
|
|
|
NM_001354604.2(MITF):c.955+1G>T
|
rs2107519634
|
|
NM_001354604.2(MITF):c.956-2A>G
|
rs2066399731
|
|
NM_006941.4(SOX10):c.1086dup (p.Pro363fs)
|
|
|
NM_006941.4(SOX10):c.1091del (p.Gln364fs)
|
rs1555937398
|
|
NM_006941.4(SOX10):c.1095dup (p.Pro366fs)
|
rs1555937395
|
|
NM_006941.4(SOX10):c.1107del (p.His368_Tyr369insTer)
|
rs1555937390
|
|
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs)
|
rs1601878540
|
|
NM_006941.4(SOX10):c.141del (p.Pro48fs)
|
rs1064796049
|
|
NM_006941.4(SOX10):c.255_274dup (p.Val92fs)
|
rs1555939476
|
|
NM_006941.4(SOX10):c.271_275del (p.Pro91fs)
|
rs483353057
|
|
NM_006941.4(SOX10):c.298_300delinsGG (p.Ser100fs)
|
rs1555939460
|
|
NM_006941.4(SOX10):c.301A>T (p.Lys101Ter)
|
rs1555939459
|
|
NM_006941.4(SOX10):c.316C>G (p.Arg106Gly)
|
rs1057518656
|
|
NM_006941.4(SOX10):c.335T>C (p.Met112Thr)
|
rs1932463844
|
|
NM_006941.4(SOX10):c.335T>G (p.Met112Arg)
|
rs1932463844
|
|
NM_006941.4(SOX10):c.336G>T (p.Met112Ile)
|
rs2145777042
|
|
NM_006941.4(SOX10):c.356_357del (p.Arg119fs)
|
|
|
NM_006941.4(SOX10):c.364C>G (p.Leu122Val)
|
rs1555939426
|
|
NM_006941.4(SOX10):c.378C>A (p.Tyr126Ter)
|
rs2145776981
|
|
NM_006941.4(SOX10):c.380dup (p.His128fs)
|
rs1555939421
|
|
NM_006941.4(SOX10):c.386T>C (p.Leu129Pro)
|
rs1932462410
|
|
NM_006941.4(SOX10):c.400C>T (p.Leu134Phe)
|
|
|
NM_006941.4(SOX10):c.403A>C (p.Ser135Arg)
|
rs1555939415
|
|
NM_006941.4(SOX10):c.403A>G (p.Ser135Gly)
|
rs1555939415
|
|
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn)
|
rs74315515
|
|
NM_006941.4(SOX10):c.422T>C (p.Leu141Pro)
|
rs2145776911
|
|
NM_006941.4(SOX10):c.426G>C (p.Trp142Cys)
|
rs1555939403
|
|
NM_006941.4(SOX10):c.428+2T>C
|
rs1601886662
|
|
NM_006941.4(SOX10):c.430del (p.Leu144fs)
|
rs1555938422
|
|
NM_006941.4(SOX10):c.44_62del (p.Val15fs)
|
rs1555939564
|
|
NM_006941.4(SOX10):c.452G>C (p.Arg151Pro)
|
rs1373797370
|
|
NM_006941.4(SOX10):c.481C>T (p.Arg161Cys)
|
rs2145768544
|
|
NM_006941.4(SOX10):c.512A>C (p.Tyr171Ser)
|
|
|
NM_006941.4(SOX10):c.586G>T (p.Glu196Ter)
|
rs763210407
|
|
NM_006941.4(SOX10):c.610C>T (p.Gln204Ter)
|
rs2145768136
|
|
NM_006941.4(SOX10):c.934dup (p.Ser312fs)
|
rs1555937463
|
|
NM_006941.4(SOX10):c.953dup (p.Tyr318Ter)
|
|
|
NM_006941.4(SOX10):c.979del (p.Ala327fs)
|
rs1932141204
|
|
NM_181458.4(PAX3):c.1021C>T (p.Gln341Ter)
|
rs1553572740
|
|
NM_181458.4(PAX3):c.124G>C (p.Gly42Arg)
|
rs773327091
|
|
NM_181458.4(PAX3):c.1277C>A (p.Ser426Ter)
|
rs369886550
|
|
NM_181458.4(PAX3):c.136dup (p.Ile46fs)
|
rs1553594009
|
|
NM_181458.4(PAX3):c.1372_1375dup (p.Ser459fs)
|
rs1553568831
|
|
NM_181458.4(PAX3):c.142G>C (p.Gly48Arg)
|
rs1419548558
|
|
NM_181458.4(PAX3):c.142G>T (p.Gly48Cys)
|
rs1419548558
|
|
NM_181458.4(PAX3):c.149_160del (p.Pro50_Asn53del)
|
rs1553593965
|
|
NM_181458.4(PAX3):c.166C>T (p.Arg56Cys)
|
rs1279989885
|
|
NM_181458.4(PAX3):c.167G>T (p.Arg56Leu)
|
rs267606931
|
|
NM_181458.4(PAX3):c.202C>T (p.Arg68Trp)
|
rs2106203892
|
|
NM_181458.4(PAX3):c.210C>A (p.Cys70Ter)
|
rs1356246522
|
|
NM_181458.4(PAX3):c.232G>T (p.Val78Leu)
|
rs1553593917
|
|
NM_181458.4(PAX3):c.239A>G (p.His80Arg)
|
rs1574771535
|
|
NM_181458.4(PAX3):c.246C>A (p.Cys82Ter)
|
rs777297575
|
|
NM_181458.4(PAX3):c.246C>G (p.Cys82Trp)
|
rs777297575
|
|
NM_181458.4(PAX3):c.256A>T (p.Ile86Phe)
|
rs1559320299
|
|
NM_181458.4(PAX3):c.269A>G (p.Tyr90Cys)
|
rs1553593874
|
|
NM_181458.4(PAX3):c.270C>G (p.Tyr90Ter)
|
rs1695336858
|
|
NM_181458.4(PAX3):c.281G>T (p.Gly94Val)
|
rs2106203654
|
|
NM_181458.4(PAX3):c.433C>T (p.Arg145Ter)
|
|
|
NM_181458.4(PAX3):c.452-9C>A
|
rs1379006499
|
|
NM_181458.4(PAX3):c.464del (p.Ser155fs)
|
rs1553592766
|
|
NM_181458.4(PAX3):c.482_484delinsTA (p.Lys161fs)
|
rs1553592757
|
|
NM_181458.4(PAX3):c.524dup (p.Glu176fs)
|
rs1553592713
|
|
NM_181458.4(PAX3):c.530_531insCT (p.Ala177_Glu178insTer)
|
rs1553592703
|
|
NM_181458.4(PAX3):c.602C>A (p.Ser201Ter)
|
|
|
NM_181458.4(PAX3):c.688C>A (p.Gln230Lys)
|
|
|
NM_181458.4(PAX3):c.692T>C (p.Leu231Pro)
|
rs1553575191
|
|
NM_181458.4(PAX3):c.727_739del (p.Tyr243fs)
|
rs1553575179
|
|
NM_181458.4(PAX3):c.755T>C (p.Leu252Pro)
|
rs1692619812
|
|
NM_181458.4(PAX3):c.768del (p.Lys257fs)
|
rs2106095025
|
|
NM_181458.4(PAX3):c.790C>T (p.Gln264Ter)
|
rs1553575159
|
|
NM_181458.4(PAX3):c.791A>C (p.Gln264Pro)
|
rs1553575157
|
|
NM_181458.4(PAX3):c.809G>A (p.Arg270His)
|
|
|
NM_181458.4(PAX3):c.809G>C (p.Arg270Pro)
|
rs2106074603
|
|
NM_181458.4(PAX3):c.86-2A>G
|
rs1553594069
|
|
NM_181458.4(PAX3):c.921del (p.Ser308fs)
|
rs1553572946
|
|
NM_207034.3(EDN3):c.332G>T (p.Cys111Phe)
|
rs773779627
|
|
NM_207034.3(EDN3):c.334C>A (p.His112Asn)
|
rs977075341
|
|