NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
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rs149617956
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0.00160
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NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro)
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rs104893747
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0.00004
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NM_001354604.2(MITF):c.355-1062G>C
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rs1236436555
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0.00001
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NM_006941.4(SOX10):c.482G>A (p.Arg161His)
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rs750566714
|
0.00001
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GRCh37/hg19 22q13.1(chr22:38155164-38541997)
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GRCh37/hg19 3p13(chr3:69985815-69985964)
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GRCh37/hg19 3p14.1-13(chr3:69739463-69968331)
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NC_000003.11:g.(?_69985874)_(69990502_?)del
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NC_000003.11:g.(?_69985874)_(70014399_?)del
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NC_000003.11:g.(?_70013978)_(70014399_?)del
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NM_000248.4(MITF):c.33+1G>A
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rs1553701477
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NM_001354604.2(MITF):c.1000dup (p.Leu334fs)
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rs1576047519
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NM_001354604.2(MITF):c.1031+1G>A
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rs1559749017
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NM_001354604.2(MITF):c.1061T>G (p.Leu354Ter)
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rs2107537021
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NM_001354604.2(MITF):c.1069T>C (p.Ser357Pro)
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rs104893744
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NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter)
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rs1057517966
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NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter)
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rs2066482593
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NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter)
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rs876657699
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NM_001354604.2(MITF):c.1145del (p.Glu382fs)
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rs1553705282
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NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter)
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rs1464157509
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NM_001354604.2(MITF):c.1208del (p.Gly403fs)
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rs878853234
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NM_001354604.2(MITF):c.1230G>A (p.Thr410=)
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rs1057521096
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NM_001354604.2(MITF):c.1273G>T (p.Glu425Ter)
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rs149617956
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NM_001354604.2(MITF):c.1291dup (p.Cys431fs)
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rs2107552171
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NM_001354604.2(MITF):c.1377del (p.Asn459fs)
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rs2066652447
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NM_001354604.2(MITF):c.367del (p.Leu123fs)
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|
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NM_001354604.2(MITF):c.440T>G (p.Leu147Ter)
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|
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NM_001354604.2(MITF):c.643_644dup (p.Ser216fs)
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|
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NM_001354604.2(MITF):c.644dup (p.His215fs)
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rs2107483975
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NM_001354604.2(MITF):c.649C>T (p.Arg217Ter)
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rs1553702006
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NM_001354604.2(MITF):c.709dup (p.Tyr237fs)
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rs2065962813
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NM_001354604.2(MITF):c.763-2A>C
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rs1553703612
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NM_001354604.2(MITF):c.764T>A (p.Leu255Ter)
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NM_001354604.2(MITF):c.808C>T (p.Leu270=)
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rs1439150504
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NM_001354604.2(MITF):c.815del (p.Pro272fs)
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|
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NM_001354604.2(MITF):c.939G>C (p.Lys313Asn)
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rs1057519325
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NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)
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rs1553704097
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NM_001354604.2(MITF):c.955+1G>C
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rs2107519634
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NM_001354604.2(MITF):c.956-1G>A
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rs1057519327
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NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)
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rs104893746
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NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del)
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rs1553704814
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NM_001354604.2(MITF):c.967del (p.Arg323fs)
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rs2066400236
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NM_001354604.2(MITF):c.969_973del (p.Arg323fs)
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rs2066400330
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NM_001354604.2(MITF):c.970A>G (p.Arg324Gly)
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rs1057519326
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NM_001354604.2(MITF):c.997G>T (p.Glu333Ter)
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rs147682682
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NM_006941.4(SOX10):c.1063C>T (p.Gln355Ter)
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rs1932137446
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NM_006941.4(SOX10):c.1169C>G (p.Ser390Ter)
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rs1569167607
|
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NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter)
|
rs1932130190
|
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NM_006941.4(SOX10):c.1195_1196del (p.Gln399fs)
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|
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NM_006941.4(SOX10):c.127C>T (p.Arg43Ter)
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rs1555939523
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NM_006941.4(SOX10):c.12_13delinsAT (p.Gln5Ter)
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rs2145777835
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NM_006941.4(SOX10):c.1352_1359dup (p.His454fs)
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rs1601878540
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NM_006941.4(SOX10):c.1379del (p.Tyr460fs)
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rs1932122748
|
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NM_006941.4(SOX10):c.198_262del (p.Lys67fs)
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rs2145777238
|
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NM_006941.4(SOX10):c.232C>T (p.Gln78Ter)
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rs1555939491
|
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NM_006941.4(SOX10):c.323T>C (p.Met108Thr)
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rs1932464492
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NM_006941.4(SOX10):c.326A>G (p.Asn109Ser)
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rs1932464388
|
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NM_006941.4(SOX10):c.341G>A (p.Trp114Ter)
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rs1932463755
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NM_006941.4(SOX10):c.424T>C (p.Trp142Arg)
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rs1555939408
|
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NM_006941.4(SOX10):c.426G>T (p.Trp142Cys)
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rs1555939403
|
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NM_006941.4(SOX10):c.428+1G>A
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rs1932460904
|
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NM_006941.4(SOX10):c.448A>T (p.Lys150Ter)
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rs1932280017
|
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NM_006941.4(SOX10):c.463G>T (p.Glu155Ter)
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rs1932279377
|
|
NM_006941.4(SOX10):c.479T>C (p.Leu160Pro)
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rs1482985217
|
|
NM_006941.4(SOX10):c.487C>T (p.Gln163Ter)
|
rs1569169289
|
|
NM_006941.4(SOX10):c.502del (p.His168fs)
|
rs1932278265
|
|
NM_006941.4(SOX10):c.520C>T (p.Gln174Ter)
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rs2145768481
|
|
NM_006941.4(SOX10):c.523C>T (p.Pro175Ser)
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rs1555938395
|
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NM_006941.4(SOX10):c.529_556del (p.Arg177fs)
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rs2145768352
|
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NM_006941.4(SOX10):c.776_780del (p.Asp259fs)
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rs1932149722
|
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NM_006941.4(SOX10):c.7G>T (p.Glu3Ter)
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rs1932482365
|
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Single allele
|
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