NM_001122659.3(EDNRB):c.552T>C (p.Ser184=)
|
rs5348
|
0.98435
|
NM_006941.4(SOX10):c.927T>C (p.His309=)
|
rs139884
|
0.68861
|
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn)
|
rs5352
|
0.01109
|
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)
|
rs11570351
|
0.00164
|
NM_001122659.3(EDNRB):c.-26G>A
|
rs2070591
|
0.00043
|
NM_207034.3(EDN3):c.426G>A (p.Ala142=)
|
rs187049336
|
0.00035
|
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg)
|
rs144565124
|
0.00022
|
NM_006941.4(SOX10):c.211T>G (p.Cys71Gly)
|
rs200683397
|
0.00021
|
NM_006941.4(SOX10):c.1093G>C (p.Gly365Arg)
|
rs748755187
|
0.00011
|
NM_207034.3(EDN3):c.688C>T (p.Arg230Cys)
|
rs372958987
|
0.00009
|
NM_207034.3(EDN3):c.43T>G (p.Ser15Ala)
|
rs374697035
|
0.00006
|
NM_006941.4(SOX10):c.768G>A (p.Pro256=)
|
rs773109683
|
0.00005
|
NM_006941.4(SOX10):c.975C>T (p.Ala325=)
|
rs760496644
|
0.00004
|
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met)
|
rs781214034
|
0.00003
|
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys)
|
rs104894387
|
0.00003
|
NM_001122659.3(EDNRB):c.973G>A (p.Val325Ile)
|
rs201437745
|
0.00002
|
NM_207034.3(EDN3):c.293C>A (p.Thr98Lys)
|
rs745795470
|
0.00002
|
NM_001122659.3(EDNRB):c.403G>A (p.Gly135Ser)
|
rs760677132
|
0.00001
|
NM_001122659.3(EDNRB):c.791C>T (p.Ala264Val)
|
rs1212186974
|
0.00001
|
NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter)
|
rs199927859
|
0.00001
|
NM_006941.4(SOX10):c.1081G>A (p.Ala361Thr)
|
rs770105416
|
0.00001
|
GRCh38/hg38 22q13.1(chr22:37805546-37983784)x1
|
|
|
NM_001122659.3(EDNRB):c.1103A>T (p.Asp368Val)
|
rs2137603390
|
|
NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter)
|
rs1566302937
|
|
NM_001122659.3(EDNRB):c.1265_1283del (p.Lys422fs)
|
rs2137599519
|
|
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.550T>C (p.Ser184Pro)
|
rs1555290659
|
|
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.688G>C (p.Val230Leu)
|
|
|
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter)
|
rs104894390
|
|
NM_001122659.3(EDNRB):c.777del (p.Val260fs)
|
rs2137610942
|
|
NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe)
|
rs77132068
|
|
NM_001122659.3(EDNRB):c.801+1G>T
|
rs2137610842
|
|
NM_001122659.3(EDNRB):c.801+2T>C
|
rs2137610838
|
|
NM_001122659.3(EDNRB):c.886A>G (p.Met296Val)
|
|
|
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.1095dup (p.Pro366fs)
|
rs1555937395
|
|
NM_006941.4(SOX10):c.1107del (p.His368_Tyr369insTer)
|
rs1555937390
|
|
NM_006941.4(SOX10):c.1129C>T (p.Gln377Ter)
|
rs74315520
|
|
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.1315_1329del (p.Ile439_Ser443del)
|
rs1569167515
|
|
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs)
|
rs1601878540
|
|
NM_006941.4(SOX10):c.141del (p.Pro48fs)
|
rs1064796049
|
|
NM_006941.4(SOX10):c.249C>G (p.Tyr83Ter)
|
rs73415876
|
|
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.334A>G (p.Met112Val)
|
rs1555939439
|
|
NM_006941.4(SOX10):c.336G>T (p.Met112Ile)
|
rs2145777042
|
|
NM_006941.4(SOX10):c.341G>C (p.Trp114Ser)
|
|
|
NM_006941.4(SOX10):c.364C>G (p.Leu122Val)
|
rs1555939426
|
|
NM_006941.4(SOX10):c.376_377insG (p.Tyr126Ter)
|
|
|
NM_006941.4(SOX10):c.378C>A (p.Tyr126Ter)
|
rs2145776981
|
|
NM_006941.4(SOX10):c.380dup (p.His128fs)
|
rs1555939421
|
|
NM_006941.4(SOX10):c.404G>A (p.Ser135Asn)
|
rs74315515
|
|
NM_006941.4(SOX10):c.426G>C (p.Trp142Cys)
|
rs1555939403
|
|
NM_006941.4(SOX10):c.429-1G>A
|
rs1569169328
|
|
NM_006941.4(SOX10):c.448A>G (p.Lys150Glu)
|
rs1932280017
|
|
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.470C>T (p.Ala157Val)
|
rs121909117
|
|
NM_006941.4(SOX10):c.479T>C (p.Leu160Pro)
|
rs1482985217
|
|
NM_006941.4(SOX10):c.481C>T (p.Arg161Cys)
|
rs2145768544
|
|
NM_006941.4(SOX10):c.482_483insGCTCCT (p.Arg161_Met162insLeuLeu)
|
rs397515366
|
|
NM_006941.4(SOX10):c.512A>C (p.Tyr171Ser)
|
|
|
NM_006941.4(SOX10):c.520C>T (p.Gln174Ter)
|
rs2145768481
|
|
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.576del (p.Glu194fs)
|
|
|
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.621C>G (p.Tyr207Ter)
|
rs281797260
|
|
NM_006941.4(SOX10):c.698-740_1085delinsCCT
|
|
|
NM_006941.4(SOX10):c.718A>C (p.Thr240Pro)
|
rs1332625359
|
|
NM_006941.4(SOX10):c.89C>A (p.Ser30Ter)
|
rs1932477493
|
|
NM_006941.4(SOX10):c.934dup (p.Ser312fs)
|
rs1555937463
|
|
NM_006941.4(SOX10):c.979del (p.Ala327fs)
|
rs1932141204
|
|
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.332G>T (p.Cys111Phe)
|
rs773779627
|
|
NM_207034.3(EDN3):c.334C>A (p.His112Asn)
|
rs977075341
|
|
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
|
|
NM_207034.3(EDN3):c.565dup (p.Thr189fs)
|
rs11570344
|
|