NM_181458.4(PAX3):c.129T>C (p.Gly43=)
|
rs12623857
|
0.84982
|
NM_006941.4(SOX10):c.927T>C (p.His309=)
|
rs139884
|
0.68861
|
NM_006941.4(SOX10):c.*475G>A
|
rs139883
|
0.58862
|
NM_001354604.2(MITF):c.*2068C>T
|
rs576
|
0.33688
|
NM_001354604.2(MITF):c.*2505C>T
|
rs704246
|
0.29266
|
NM_001354604.2(MITF):c.*48T>C
|
rs9863910
|
0.11996
|
NM_181458.4(PAX3):c.1174-10G>C
|
rs2855268
|
0.11848
|
NM_001354604.2(MITF):c.*1248T>C
|
rs2131025
|
0.07575
|
NM_006941.4(SOX10):c.18C>T (p.Asp6=)
|
rs149435516
|
0.07056
|
NM_006941.4(SOX10):c.*711C>T
|
rs60962899
|
0.03747
|
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys)
|
rs2234675
|
0.02573
|
NM_001354604.2(MITF):c.*824T>A
|
rs114659118
|
0.02066
|
NM_001354604.2(MITF):c.*2458G>A
|
rs77962238
|
0.01521
|
NM_001354604.2(MITF):c.*1150T>C
|
rs150314710
|
0.01496
|
NM_001354604.2(MITF):c.355-1135G>A
|
rs77588960
|
0.01433
|
NM_181458.4(PAX3):c.1420+104G>A
|
rs142988099
|
0.01258
|
NM_181458.4(PAX3):c.1420+220C>T
|
rs45624434
|
0.01121
|
NM_001354604.2(MITF):c.*2170A>G
|
rs78240629
|
0.01047
|
NM_181458.4(PAX3):c.156C>G (p.Pro52=)
|
rs28945092
|
0.01003
|
NM_001354604.2(MITF):c.1566G>A (p.Thr522=)
|
rs36118030
|
0.00991
|
NM_001354604.2(MITF):c.*2580C>T
|
rs139487027
|
0.00303
|
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn)
|
rs116473352
|
0.00287
|
NM_001354604.2(MITF):c.880+9C>G
|
rs181810413
|
0.00203
|
NM_001354604.2(MITF):c.366C>T (p.His122=)
|
rs140663277
|
0.00201
|
NM_001354604.2(MITF):c.*836G>T
|
rs558793046
|
0.00194
|
NM_001354604.2(MITF):c.*2924C>T
|
rs151043552
|
0.00174
|
NM_181458.4(PAX3):c.873C>T (p.Pro291=)
|
rs141545923
|
0.00170
|
NM_006941.4(SOX10):c.822C>T (p.Gly274=)
|
rs147334218
|
0.00153
|
NM_001354604.2(MITF):c.*3033A>G
|
rs139770177
|
0.00150
|
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala)
|
rs2055006
|
0.00094
|
NM_001354604.2(MITF):c.1031+14C>T
|
rs201353723
|
0.00077
|
NM_001354604.2(MITF):c.*379T>C
|
rs552044239
|
0.00071
|
NM_001354604.2(MITF):c.*228C>T
|
rs190540926
|
0.00069
|
NM_001354604.2(MITF):c.1573A>G (p.Thr525Ala)
|
rs142263283
|
0.00050
|
NM_001354604.2(MITF):c.*1491A>G
|
rs80212793
|
0.00042
|
NM_006941.4(SOX10):c.753G>A (p.Ser251=)
|
rs376907937
|
0.00033
|
NM_001354604.2(MITF):c.*286G>A
|
rs187361634
|
0.00029
|
NM_181458.4(PAX3):c.321+10C>A
|
rs140960868
|
0.00029
|
NM_001354604.2(MITF):c.*235T>C
|
rs183031244
|
0.00028
|
NM_001354604.2(MITF):c.1182A>G (p.Glu394=)
|
rs137904015
|
0.00027
|
NM_181458.4(PAX3):c.807C>T (p.Asn269=)
|
rs45501393
|
0.00027
|
NM_006941.4(SOX10):c.428+10C>G
|
rs201638602
|
0.00026
|
NM_181458.4(PAX3):c.126C>A (p.Gly42=)
|
rs369680052
|
0.00026
|
NM_181458.4(PAX3):c.-205C>T
|
rs565554258
|
0.00020
|
NM_181458.4(PAX3):c.-359G>T
|
rs45501095
|
0.00019
|
NM_001354604.2(MITF):c.*2673T>G
|
rs75204045
|
0.00017
|
NM_001354604.2(MITF):c.882G>A (p.Ala294=)
|
rs778126895
|
0.00011
|
NM_001354604.2(MITF):c.1381C>A (p.Leu461Ile)
|
rs78962087
|
0.00007
|
NM_006941.4(SOX10):c.*27G>A
|
rs563902004
|
0.00006
|
NM_181458.4(PAX3):c.1420+186G>A
|
rs78035924
|
0.00006
|
NM_001354604.2(MITF):c.*2868T>C
|
rs529623175
|
0.00005
|
NM_001354604.2(MITF):c.1569G>A (p.Glu523=)
|
rs200830148
|
0.00003
|
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly)
|
rs747377284
|
0.00003
|
NM_001354604.2(MITF):c.*447C>A
|
rs546175299
|
0.00002
|
NM_001354604.2(MITF):c.*1101G>A
|
rs557878790
|
0.00001
|
NM_006941.4(SOX10):c.*537G>C
|
rs565069012
|
0.00001
|
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser)
|
rs151199924
|
0.00001
|
NM_001354604.2(MITF):c.*1270G>A
|
rs137975240
|
|
NM_001354604.2(MITF):c.*2029A>T
|
rs571540517
|
|
NM_001354604.2(MITF):c.*24G>A
|
rs375847754
|
|
NM_001354604.2(MITF):c.*575_*576dup
|
rs59665466
|
|
NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu)
|
rs548265796
|
|
NM_006941.4(SOX10):c.429-12A>G
|
rs753723642
|
|
NM_181458.4(PAX3):c.1420+55C>T
|
rs186207055
|
|