NM_006941.4(SOX10):c.-166C>T
|
rs548479592
|
0.00059
|
NM_006941.4(SOX10):c.*643A>G
|
rs886057493
|
0.00038
|
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg)
|
rs144565124
|
0.00022
|
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.*327G>A
|
rs1473316530
|
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_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_001354604.2(MITF):c.*2160del
|
rs565618309
|
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.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.*413_*416del
|
rs886058810
|
|
NM_001354604.2(MITF):c.*415AAGA[2]
|
rs886058811
|
|
NM_001354604.2(MITF):c.*574_*576dup
|
rs59665466
|
|
NM_001354604.2(MITF):c.*576dup
|
rs59665466
|
|
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.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.144C>T (p.Gly48=)
|
rs1252612539
|
|
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
|
|