NM_001354604.2(MITF):c.355-1062G>C
|
rs1236436555
|
0.00001
|
NM_001354604.2(MITF):c.666+1G>A
|
rs1246772999
|
0.00001
|
NM_006941.4(SOX10):c.482G>A (p.Arg161His)
|
rs750566714
|
0.00001
|
NC_000003.11:g.(?_69987065)_(69997137_?)del
|
|
|
NM_000248.4(MITF):c.30T>G (p.Tyr10Ter)
|
|
|
NM_000248.4(MITF):c.31C>T (p.Gln11Ter)
|
rs2471579611
|
|
NM_001354604.2(MITF):c.1001T>G (p.Leu334Arg)
|
|
|
NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter)
|
rs1553704841
|
|
NM_001354604.2(MITF):c.1031+1G>C
|
|
|
NM_001354604.2(MITF):c.1031+4A>C
|
rs1553704850
|
|
NM_001354604.2(MITF):c.1039C>G (p.Arg347Gly)
|
rs1559751245
|
|
NM_001354604.2(MITF):c.1051G>A (p.Gly351Arg)
|
|
|
NM_001354604.2(MITF):c.1052G>A (p.Gly351Glu)
|
rs2107536936
|
|
NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr)
|
rs2107537096
|
|
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter)
|
rs1057517966
|
|
NM_001354604.2(MITF):c.1195del (p.Ala399fs)
|
|
|
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter)
|
rs1464157509
|
|
NM_001354604.2(MITF):c.1230G>A (p.Thr410=)
|
rs1057521096
|
|
NM_001354604.2(MITF):c.1274_1295dup (p.Ser432delinsArgThrArgSerTer)
|
rs2107552061
|
|
NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter)
|
rs2107478777
|
|
NM_001354604.2(MITF):c.393dup (p.Gln132fs)
|
|
|
NM_001354604.2(MITF):c.648dup (p.Arg217fs)
|
|
|
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter)
|
rs1553702006
|
|
NM_001354604.2(MITF):c.660_666+6del
|
rs2471591650
|
|
NM_001354604.2(MITF):c.730_731delinsCC (p.Leu244Pro)
|
rs1553702406
|
|
NM_001354604.2(MITF):c.762+1G>A
|
rs2471598592
|
|
NM_001354604.2(MITF):c.802_803inv (p.Gln268Ter)
|
|
|
NM_001354604.2(MITF):c.878_879dup (p.Ala294fs)
|
|
|
NM_001354604.2(MITF):c.880+1G>A
|
|
|
NM_001354604.2(MITF):c.880+2T>C
|
|
|
NM_001354604.2(MITF):c.899_900del (p.Glu300fs)
|
rs2107519404
|
|
NM_001354604.2(MITF):c.925G>A (p.Glu309Lys)
|
rs1553704086
|
|
NM_001354604.2(MITF):c.928A>G (p.Arg310Gly)
|
rs2066264802
|
|
NM_001354604.2(MITF):c.950A>T (p.Asn317Ile)
|
|
|
NM_001354604.2(MITF):c.951C>A (p.Asn317Lys)
|
|
|
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)
|
rs1553704097
|
|
NM_001354604.2(MITF):c.953_955+3del
|
rs2471630430
|
|
NM_001354604.2(MITF):c.955+1G>T
|
rs2107519634
|
|
NM_001354604.2(MITF):c.956-2A>G
|
rs2066399731
|
|
NM_001354604.2(MITF):c.961C>G (p.Arg321Gly)
|
|
|
NM_001354604.2(MITF):c.962G>T (p.Arg321Leu)
|
|
|
NM_001354604.2(MITF):c.967A>G (p.Arg323Gly)
|
|
|
NM_006941.4(SOX10):c.1086dup (p.Pro363fs)
|
rs2145761047
|
|
NM_006941.4(SOX10):c.1091del (p.Gln364fs)
|
rs1555937398
|
|
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs)
|
rs1601878540
|
|
NM_006941.4(SOX10):c.255G>A (p.Trp85Ter)
|
|
|
NM_006941.4(SOX10):c.316C>G (p.Arg106Gly)
|
rs1057518656
|
|
NM_006941.4(SOX10):c.335T>G (p.Met112Arg)
|
rs1932463844
|
|
NM_006941.4(SOX10):c.356_357del (p.Arg119fs)
|
rs2518052383
|
|
NM_006941.4(SOX10):c.386T>C (p.Leu129Pro)
|
rs1932462410
|
|
NM_006941.4(SOX10):c.403A>C (p.Ser135Arg)
|
rs1555939415
|
|
NM_006941.4(SOX10):c.403A>G (p.Ser135Gly)
|
rs1555939415
|
|
NM_006941.4(SOX10):c.428+2T>C
|
rs1601886662
|
|
NM_006941.4(SOX10):c.428+2T>G
|
|
|
NM_006941.4(SOX10):c.430del (p.Leu144fs)
|
rs1555938422
|
|
NM_006941.4(SOX10):c.44_62del (p.Val15fs)
|
rs1555939564
|
|
NM_006941.4(SOX10):c.481C>T (p.Arg161Cys)
|
rs2145768544
|
|
NM_006941.4(SOX10):c.953dup (p.Tyr318Ter)
|
rs2518042216
|
|