NM_001354604.2(MITF):c.1031+1G>A
|
rs1559749017
|
|
NM_006941.4(SOX10):c.335T>C (p.Met112Thr)
|
rs1932463844
|
|
NM_006941.4(SOX10):c.422T>C (p.Leu141Pro)
|
rs2145776911
|
|
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.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.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
|
|