NM_001122659.3(EDNRB):c.550T>C (p.Ser184Pro)
|
rs1555290659
|
|
NM_001354604.2(MITF):c.1031+4A>C
|
rs1553704850
|
|
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter)
|
rs1057517966
|
|
NM_001354604.2(MITF):c.730_731delinsCC (p.Leu244Pro)
|
rs1553702406
|
|
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)
|
rs1553704097
|
|
NM_006941.4(SOX10):c.1095dup (p.Pro366fs)
|
rs1555937395
|
|
NM_006941.4(SOX10):c.1107del (p.His368_Tyr369insTer)
|
rs1555937390
|
|
NM_006941.4(SOX10):c.141del (p.Pro48fs)
|
rs1064796049
|
|
NM_006941.4(SOX10):c.255_274dup (p.Val92fs)
|
rs1555939476
|
|
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.364C>G (p.Leu122Val)
|
rs1555939426
|
|
NM_006941.4(SOX10):c.380dup (p.His128fs)
|
rs1555939421
|
|
NM_006941.4(SOX10):c.426G>C (p.Trp142Cys)
|
rs1555939403
|
|
NM_006941.4(SOX10):c.452G>C (p.Arg151Pro)
|
rs1373797370
|
|
NM_006941.4(SOX10):c.586G>T (p.Glu196Ter)
|
rs763210407
|
|
NM_006941.4(SOX10):c.934dup (p.Ser312fs)
|
rs1555937463
|
|
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.210C>A (p.Cys70Ter)
|
rs1356246522
|
|
NM_181458.4(PAX3):c.232G>T (p.Val78Leu)
|
rs1553593917
|
|
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.269A>G (p.Tyr90Cys)
|
rs1553593874
|
|
NM_181458.4(PAX3):c.452-9C>A
|
rs1379006499
|
|
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.692T>C (p.Leu231Pro)
|
rs1553575191
|
|
NM_181458.4(PAX3):c.791A>C (p.Gln264Pro)
|
rs1553575157
|
|
NM_181458.4(PAX3):c.86-2A>G
|
rs1553594069
|
|
NM_181458.4(PAX3):c.921del (p.Ser308fs)
|
rs1553572946
|
|
NM_207034.3(EDN3):c.334C>A (p.His112Asn)
|
rs977075341
|
|