NM_181458.4(PAX3):c.129T>C (p.Gly43=)
|
rs12623857
|
0.84982
|
NM_006941.4(SOX10):c.927T>C (p.His309=)
|
rs139884
|
0.68861
|
NM_006941.4(SOX10):c.*475G>A
|
rs139883
|
0.58862
|
NM_181458.4(PAX3):c.1174-10G>C
|
rs2855268
|
0.11848
|
NM_006941.4(SOX10):c.18C>T (p.Asp6=)
|
rs149435516
|
0.07056
|
NM_006941.4(SOX10):c.*932G>A
|
rs8141371
|
0.03757
|
NM_006941.4(SOX10):c.*711C>T
|
rs60962899
|
0.03747
|
NM_006941.4(SOX10):c.249C>T (p.Tyr83=)
|
rs73415876
|
0.03745
|
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)
|
rs2234675
|
0.02573
|
NM_181458.4(PAX3):c.1420+104G>A
|
rs142988099
|
0.01258
|
NM_181458.4(PAX3):c.1420+220C>T
|
rs45624434
|
0.01121
|
NM_181458.4(PAX3):c.156C>G (p.Pro52=)
|
rs28945092
|
0.01003
|
NM_181458.4(PAX3):c.879G>T (p.Gly293=)
|
rs45522331
|
0.00653
|
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn)
|
rs116473352
|
0.00287
|
NM_181458.4(PAX3):c.873C>T (p.Pro291=)
|
rs141545923
|
0.00170
|
NM_006941.4(SOX10):c.822C>T (p.Gly274=)
|
rs147334218
|
0.00153
|
NM_006941.4(SOX10):c.-166C>T
|
rs548479592
|
0.00059
|
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr)
|
rs140614903
|
0.00054
|
NM_006941.4(SOX10):c.*643A>G
|
rs886057493
|
0.00038
|
NM_006941.4(SOX10):c.753G>A (p.Ser251=)
|
rs376907937
|
0.00033
|
NM_006941.4(SOX10):c.122G>T (p.Gly41Val)
|
rs199750760
|
0.00031
|
NM_181458.4(PAX3):c.321+10C>A
|
rs140960868
|
0.00029
|
NM_181458.4(PAX3):c.807C>T (p.Asn269=)
|
rs45501393
|
0.00027
|
NM_006941.4(SOX10):c.428+10C>G
|
rs201638602
|
0.00026
|
NM_181458.4(PAX3):c.126C>A (p.Gly42=)
|
rs369680052
|
0.00026
|
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg)
|
rs144565124
|
0.00022
|
NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu)
|
rs200701839
|
0.00022
|
NM_181458.4(PAX3):c.-205C>T
|
rs565554258
|
0.00020
|
NM_181458.4(PAX3):c.-359G>T
|
rs45501095
|
0.00019
|
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys)
|
rs148454691
|
0.00016
|
NM_181458.4(PAX3):c.567C>T (p.Asp189=)
|
rs774455796
|
0.00012
|
NM_006941.4(SOX10):c.*158A>G
|
rs886057494
|
0.00011
|
NM_181458.4(PAX3):c.958+9G>A
|
rs185119406
|
0.00011
|
NM_006941.4(SOX10):c.918C>T (p.His306=)
|
rs200226880
|
0.00007
|
NM_181458.4(PAX3):c.1420+103C>T
|
rs544726519
|
0.00007
|
NM_006941.4(SOX10):c.*27G>A
|
rs563902004
|
0.00006
|
NM_006941.4(SOX10):c.274G>C (p.Val92Leu)
|
rs142113652
|
0.00006
|
NM_181458.4(PAX3):c.1420+186G>A
|
rs78035924
|
0.00006
|
NM_006941.4(SOX10):c.*327G>A
|
rs1473316530
|
0.00004
|
NM_006941.4(SOX10):c.507G>A (p.Pro169=)
|
rs199703563
|
0.00004
|
NM_006941.4(SOX10):c.975C>T (p.Ala325=)
|
rs760496644
|
0.00004
|
NM_006941.4(SOX10):c.976G>A (p.Val326Met)
|
rs750224655
|
0.00004
|
NM_181458.4(PAX3):c.1248C>T (p.Thr416=)
|
rs376147620
|
0.00004
|
NM_207034.3(EDN3):c.*831G>A
|
rs886056886
|
0.00004
|
NM_006941.4(SOX10):c.*1179G>A
|
rs749495956
|
0.00003
|
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly)
|
rs747377284
|
0.00003
|
NM_181458.4(PAX3):c.-156C>T
|
rs867534042
|
0.00003
|
NM_006941.4(SOX10):c.1111G>A (p.Asp371Asn)
|
rs551334981
|
0.00002
|
NM_181458.4(PAX3):c.981C>T (p.Thr327=)
|
rs374429328
|
0.00002
|
NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter)
|
rs199927859
|
0.00001
|
NM_001354604.2(MITF):c.*2160del
|
rs565618309
|
0.00001
|
NM_006941.4(SOX10):c.*537G>C
|
rs565069012
|
0.00001
|
NM_006941.4(SOX10):c.*568T>A
|
rs1226122613
|
0.00001
|
NM_006941.4(SOX10):c.-29A>G
|
rs761658024
|
0.00001
|
NM_006941.4(SOX10):c.-63A>G
|
rs886057496
|
0.00001
|
NM_006941.4(SOX10):c.1244C>T (p.Ser415Leu)
|
rs1348367862
|
0.00001
|
NM_006941.4(SOX10):c.585C>T (p.Ala195=)
|
rs751780784
|
0.00001
|
NM_006941.4(SOX10):c.628G>A (p.Ala210Thr)
|
rs774135262
|
0.00001
|
NM_006941.4(SOX10):c.906G>A (p.Pro302=)
|
rs774324385
|
0.00001
|
NM_181458.4(PAX3):c.-248A>C
|
rs886055677
|
0.00001
|
NM_181458.4(PAX3):c.-99C>T
|
rs1695446616
|
0.00001
|
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser)
|
rs151199924
|
0.00001
|
NM_181458.4(PAX3):c.1029G>A (p.Thr343=)
|
rs747502205
|
0.00001
|
NM_181458.4(PAX3):c.1229A>T (p.Tyr410Phe)
|
rs886055675
|
0.00001
|
NM_181458.4(PAX3):c.1420+125T>G
|
rs886055674
|
0.00001
|
NM_181458.4(PAX3):c.47C>T (p.Pro16Leu)
|
rs886055676
|
0.00001
|
NM_001122659.3(EDNRB):c.*859C>T
|
rs886050324
|
|
NM_001122659.3(EDNRB):c.*918_*921del
|
rs760796267
|
|
NM_001354604.2(MITF):c.*2159dup
|
rs550555819
|
|
NM_001354604.2(MITF):c.*413_*416del
|
rs886058810
|
|
NM_001354604.2(MITF):c.*415AAGA[2]
|
rs886058811
|
|
NM_001354604.2(MITF):c.*574_*576dup
|
rs59665466
|
|
NM_001354604.2(MITF):c.*575_*576dup
|
rs59665466
|
|
NM_001354604.2(MITF):c.*576dup
|
rs59665466
|
|
NM_001354604.2(MITF):c.1180-2A>G
|
rs1064797294
|
|
NM_001354604.2(MITF):c.794A>G (p.Tyr265Cys)
|
rs1057518765
|
|
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del)
|
rs1553704814
|
|
NM_006941.4(SOX10):c.*1084TC[1]
|
rs577740783
|
|
NM_006941.4(SOX10):c.*712G>T
|
rs377420828
|
|
NM_006941.4(SOX10):c.*830G>C
|
rs1932094243
|
|
NM_006941.4(SOX10):c.-9G>A
|
rs1237344324
|
|
NM_006941.4(SOX10):c.1111G>T (p.Asp371Tyr)
|
rs551334981
|
|
NM_006941.4(SOX10):c.135C>T (p.Ser45=)
|
rs1569171316
|
|
NM_006941.4(SOX10):c.202T>C (p.Phe68Leu)
|
rs1932470433
|
|
NM_006941.4(SOX10):c.400C>T (p.Leu134Phe)
|
|
|
NM_006941.4(SOX10):c.429-12A>G
|
rs753723642
|
|
NM_006941.4(SOX10):c.746T>A (p.Leu249Gln)
|
rs886057495
|
|
NM_181458.4(PAX3):c.-156C>A
|
rs867534042
|
|
NM_181458.4(PAX3):c.1012A>T (p.Thr338Ser)
|
rs1692141813
|
|
NM_181458.4(PAX3):c.1204G>A (p.Val402Ile)
|
rs374318137
|
|
NM_181458.4(PAX3):c.1240C>T (p.Pro414Ser)
|
rs1691318066
|
|
NM_181458.4(PAX3):c.1253G>T (p.Gly418Val)
|
rs1691316648
|
|
NM_181458.4(PAX3):c.1420+112dup
|
rs368725878
|
|
NM_181458.4(PAX3):c.1420+165G>T
|
rs1395471577
|
|
NM_181458.4(PAX3):c.1420+201C>T
|
rs573451372
|
|
NM_181458.4(PAX3):c.1420+55C>T
|
rs186207055
|
|
NM_181458.4(PAX3):c.144C>T (p.Gly48=)
|
rs1252612539
|
|
NM_181458.4(PAX3):c.167G>T (p.Arg56Leu)
|
rs267606931
|
|
NM_181458.4(PAX3):c.342G>A (p.Val114=)
|
rs1020469778
|
|
NM_207034.3(EDN3):c.*138_*139insCC
|
rs886056876
|
|
NM_207034.3(EDN3):c.*139_*140del
|
rs1555850390
|
|
NM_207034.3(EDN3):c.*139del
|
rs886056877
|
|
NM_207034.3(EDN3):c.*148_*149del
|
rs11475273
|
|