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_001354604.2(MITF):c.*1248T>C
|
rs2131025
|
0.07575
|
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.*2170A>G
|
rs78240629
|
0.01047
|
NM_001354604.2(MITF):c.1566G>A (p.Thr522=)
|
rs36118030
|
0.00991
|
NM_001354604.2(MITF):c.*2580C>T
|
rs139487027
|
0.00303
|
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_001354604.2(MITF):c.*3033A>G
|
rs139770177
|
0.00150
|
NM_001354604.2(MITF):c.*1941A>G
|
rs192503700
|
0.00100
|
NM_001354604.2(MITF):c.*556T>C
|
rs573364713
|
0.00100
|
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.*1570C>T
|
rs528276006
|
0.00055
|
NM_001354604.2(MITF):c.1573A>G (p.Thr525Ala)
|
rs142263283
|
0.00050
|
NM_001354604.2(MITF):c.*1502A>T
|
rs766340943
|
0.00043
|
NM_001354604.2(MITF):c.*1491A>G
|
rs80212793
|
0.00042
|
NM_001354604.2(MITF):c.*2881C>T
|
rs575491126
|
0.00039
|
NM_001354604.2(MITF):c.*2588G>A
|
rs559658244
|
0.00035
|
NM_001354604.2(MITF):c.*286G>A
|
rs187361634
|
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_001354604.2(MITF):c.*2673T>G
|
rs75204045
|
0.00017
|
NM_001354604.2(MITF):c.*1380A>G
|
rs560413518
|
0.00015
|
NM_001354604.2(MITF):c.*12T>C
|
rs201375960
|
0.00012
|
NM_001354604.2(MITF):c.882G>A (p.Ala294=)
|
rs778126895
|
0.00011
|
NM_001354604.2(MITF):c.*3060C>T
|
rs768539283
|
0.00009
|
NM_001354604.2(MITF):c.*524T>G
|
rs769353314
|
0.00009
|
NM_001354604.2(MITF):c.1154A>G (p.Asn385Ser)
|
rs368915509
|
0.00008
|
NM_001354604.2(MITF):c.*802A>T
|
rs190223113
|
0.00007
|
NM_001354604.2(MITF):c.1381C>A (p.Leu461Ile)
|
rs78962087
|
0.00007
|
NM_001354604.2(MITF):c.644A>T (p.His215Leu)
|
rs761038653
|
0.00007
|
NM_001354604.2(MITF):c.*2077G>T
|
rs886058816
|
0.00006
|
NM_001354604.2(MITF):c.*2753T>C
|
rs886058819
|
0.00006
|
NM_001354604.2(MITF):c.1032-4G>A
|
rs199779059
|
0.00006
|
NM_001354604.2(MITF):c.*1893C>T
|
rs886058815
|
0.00005
|
NM_001354604.2(MITF):c.*2868T>C
|
rs529623175
|
0.00005
|
NM_001354604.2(MITF):c.*1666T>G
|
rs995848515
|
0.00004
|
NM_001354604.2(MITF):c.1213T>C (p.Ser405Pro)
|
rs104893747
|
0.00004
|
NM_001354604.2(MITF):c.990C>T (p.Arg330=)
|
rs147883651
|
0.00004
|
NM_001354604.2(MITF):c.*1933C>T
|
rs555688827
|
0.00003
|
NM_001354604.2(MITF):c.1031+15G>A
|
rs144757214
|
0.00003
|
NM_001354604.2(MITF):c.1259G>A (p.Arg420Gln)
|
rs201351378
|
0.00003
|
NM_001354604.2(MITF):c.1569G>A (p.Glu523=)
|
rs200830148
|
0.00003
|
NM_001354604.2(MITF):c.*447C>A
|
rs546175299
|
0.00002
|
NM_001354604.2(MITF):c.1180-11T>C
|
rs538450872
|
0.00002
|
NM_001354604.2(MITF):c.1222C>G (p.Pro408Ala)
|
rs199992377
|
0.00002
|
NM_001354604.2(MITF):c.1396G>A (p.Glu466Lys)
|
rs150995386
|
0.00002
|
NM_001354604.2(MITF):c.881C>T (p.Ala294Val)
|
rs373945151
|
0.00002
|
NM_001354604.2(MITF):c.*1101G>A
|
rs557878790
|
0.00001
|
NM_001354604.2(MITF):c.*1120C>A
|
rs544152010
|
0.00001
|
NM_001354604.2(MITF):c.*115C>T
|
rs886058809
|
0.00001
|
NM_001354604.2(MITF):c.*2079A>C
|
rs886058817
|
0.00001
|
NM_001354604.2(MITF):c.*2160A>G
|
rs551574413
|
0.00001
|
NM_001354604.2(MITF):c.*23C>T
|
rs746168511
|
0.00001
|
NM_001354604.2(MITF):c.*2632C>T
|
rs984300026
|
0.00001
|
NM_001354604.2(MITF):c.*2807G>A
|
rs938427203
|
0.00001
|
NM_001354604.2(MITF):c.*2952T>C
|
rs2066737952
|
0.00001
|
NM_001354604.2(MITF):c.*309T>C
|
rs1268402530
|
0.00001
|
NM_001354604.2(MITF):c.*421G>T
|
rs886058812
|
0.00001
|
NM_001354604.2(MITF):c.*486G>A
|
rs563236295
|
0.00001
|
NM_001354604.2(MITF):c.*662T>C
|
rs886058813
|
0.00001
|
NM_001354604.2(MITF):c.*810T>A
|
rs987275102
|
0.00001
|
NM_001354604.2(MITF):c.1056C>T (p.Thr352=)
|
rs766006413
|
0.00001
|
NM_001354604.2(MITF):c.1064A>G (p.Lys355Arg)
|
rs751147980
|
0.00001
|
NM_001354604.2(MITF):c.1179+14G>A
|
rs370391171
|
0.00001
|
NM_001354604.2(MITF):c.1179+15T>C
|
rs748644115
|
0.00001
|
NM_001354604.2(MITF):c.355-1062G>C
|
rs1236436555
|
0.00001
|
NM_001354604.2(MITF):c.989G>A (p.Arg330His)
|
rs763119975
|
0.00001
|
NM_001354604.2(MITF):c.997G>A (p.Glu333Lys)
|
rs147682682
|
0.00001
|
GRCh37/hg19 3p13(chr3:69985815-69985964)
|
|
|
GRCh37/hg19 3p14.1-13(chr3:69739463-69968331)
|
|
|
NM_000248.4(MITF):c.30T>G (p.Tyr10Ter)
|
|
|
NM_000248.4(MITF):c.33+1G>A
|
rs1553701477
|
|
NM_001354604.2(MITF):c.*1270G>A
|
rs137975240
|
|
NM_001354604.2(MITF):c.*1770C>T
|
rs2066705119
|
|
NM_001354604.2(MITF):c.*1869G>T
|
rs886058814
|
|
NM_001354604.2(MITF):c.*1934G>T
|
rs572298352
|
|
NM_001354604.2(MITF):c.*2029A>T
|
rs571540517
|
|
NM_001354604.2(MITF):c.*2140T>C
|
rs2066715422
|
|
NM_001354604.2(MITF):c.*2275G>A
|
rs550114890
|
|
NM_001354604.2(MITF):c.*2294A>G
|
rs1576076650
|
|
NM_001354604.2(MITF):c.*24G>A
|
rs375847754
|
|
NM_001354604.2(MITF):c.*2552A>G
|
rs146395033
|
|
NM_001354604.2(MITF):c.*2831A>G
|
rs2066734484
|
|
NM_001354604.2(MITF):c.*2892C>T
|
rs1041442510
|
|
NM_001354604.2(MITF):c.*2918C>G
|
rs2066737398
|
|
NM_001354604.2(MITF):c.*442A>G
|
rs1222694868
|
|
NM_001354604.2(MITF):c.*581G>A
|
rs930647904
|
|
NM_001354604.2(MITF):c.*75G>T
|
rs2066664856
|
|
NM_001354604.2(MITF):c.*857C>G
|
rs575556062
|
|
NM_001354604.2(MITF):c.*857C>T
|
rs575556062
|
|
NM_001354604.2(MITF):c.1000dup (p.Leu334fs)
|
rs1576047519
|
|
NM_001354604.2(MITF):c.1022C>G (p.Ser341Ter)
|
rs1553704841
|
|
NM_001354604.2(MITF):c.1031+1G>A
|
rs1559749017
|
|
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.1044dup (p.Asn349fs)
|
rs2066481098
|
|
NM_001354604.2(MITF):c.1052G>A (p.Gly351Glu)
|
rs2107536936
|
|
NM_001354604.2(MITF):c.1069T>C (p.Ser357Pro)
|
rs104893744
|
|
NM_001354604.2(MITF):c.1070C>A (p.Ser357Tyr)
|
rs2107537096
|
|
NM_001354604.2(MITF):c.1072G>A (p.Val358Met)
|
rs1271000541
|
|
NM_001354604.2(MITF):c.1084C>T (p.Arg362Ter)
|
rs1057517966
|
|
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter)
|
rs2066482593
|
|
NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter)
|
rs876657699
|
|
NM_001354604.2(MITF):c.1145del (p.Glu382fs)
|
rs1553705282
|
|
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter)
|
rs1464157509
|
|
NM_001354604.2(MITF):c.1208del (p.Gly403fs)
|
rs878853234
|
|
NM_001354604.2(MITF):c.1230G>A (p.Thr410=)
|
rs1057521096
|
|
NM_001354604.2(MITF):c.1273G>T (p.Glu425Ter)
|
rs149617956
|
|
NM_001354604.2(MITF):c.1274_1295dup (p.Ser432delinsArgThrArgSerTer)
|
rs2107552061
|
|
NM_001354604.2(MITF):c.1291dup (p.Cys431fs)
|
rs2107552171
|
|
NM_001354604.2(MITF):c.1320A>T (p.Ala440=)
|
rs886058808
|
|
NM_001354604.2(MITF):c.1377del (p.Asn459fs)
|
rs2066652447
|
|
NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu)
|
rs548265796
|
|
NM_001354604.2(MITF):c.387C>A (p.Tyr129Ter)
|
rs2107478777
|
|
NM_001354604.2(MITF):c.505A>G (p.Met169Val)
|
rs143224466
|
|
NM_001354604.2(MITF):c.531A>G (p.Ala177=)
|
rs1193795003
|
|
NM_001354604.2(MITF):c.621C>T (p.Ser207=)
|
rs370323877
|
|
NM_001354604.2(MITF):c.644dup (p.His215fs)
|
rs2107483975
|
|
NM_001354604.2(MITF):c.649C>T (p.Arg217Ter)
|
rs1553702006
|
|
NM_001354604.2(MITF):c.669G>A (p.Met223Ile)
|
rs1032758072
|
|
NM_001354604.2(MITF):c.730_731delinsCC (p.Leu244Pro)
|
rs1553702406
|
|
NM_001354604.2(MITF):c.763-2A>C
|
rs1553703612
|
|
NM_001354604.2(MITF):c.808C>T (p.Leu270=)
|
rs1439150504
|
|
NM_001354604.2(MITF):c.861C>G (p.Asn287Lys)
|
rs2066177332
|
|
NM_001354604.2(MITF):c.899_900del (p.Glu300fs)
|
rs2107519404
|
|
NM_001354604.2(MITF):c.928A>G (p.Arg310Gly)
|
rs2066264802
|
|
NM_001354604.2(MITF):c.939G>C (p.Lys313Asn)
|
rs1057519325
|
|
NM_001354604.2(MITF):c.950A>G (p.Asn317Ser)
|
rs2066265350
|
|
NM_001354604.2(MITF):c.953T>C (p.Leu318Pro)
|
rs1553704097
|
|
NM_001354604.2(MITF):c.955+1G>C
|
rs2107519634
|
|
NM_001354604.2(MITF):c.955+1G>T
|
rs2107519634
|
|
NM_001354604.2(MITF):c.956-1G>A
|
rs1057519327
|
|
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)
|
rs104893746
|
|
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del)
|
rs1553704814
|
|
NM_001354604.2(MITF):c.967del (p.Arg323fs)
|
rs2066400236
|
|
NM_001354604.2(MITF):c.969_973del (p.Arg323fs)
|
rs2066400330
|
|
NM_001354604.2(MITF):c.970A>G (p.Arg324Gly)
|
rs1057519326
|
|
NM_001354604.2(MITF):c.997G>T (p.Glu333Ter)
|
rs147682682
|
|
Single allele
|
|
|