Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.69964845A=CA1373413840MITFc.1114-2A= (n.1114-2A=)
c.1111-2A= (n.1111-2A=)
n.1336-2A=
c.1087-2A= (n.1087-2A=)
c.1114-69A= (n.1114-69A=)
c.1180-2A= (n.1180-2A=)
c.859-2A= (n.859-2A=)
c.1159-2A= (n.1159-2A=)
c.1162-2A= (n.1162-2A=)
c.841-2A= (n.841-2A=)
c.1006-2A= (n.1006-2A=)
c.*506-2A= (n.*506-2A=)
c.673-2A= (n.673-2A=)
c.1132-2A= (n.1132-2A=)
c.1024-2A= (n.1024-2A=)
c.1177-2A= (n.1177-2A=)
c.1129-2A= (n.1129-2A=)
c.1012-2A= (n.1012-2A=)
c.994-2A= (n.994-2A=)
3g.69964845A>CCA353559298MITFc.1114-2A>C (n.1114-2A>C)
c.1111-2A>C (n.1111-2A>C)
n.1336-2A>C
c.1087-2A>C (n.1087-2A>C)
c.1114-69A>C (n.1114-69A>C)
c.1180-2A>C (n.1180-2A>C)
c.859-2A>C (n.859-2A>C)
c.1159-2A>C (n.1159-2A>C)
c.1162-2A>C (n.1162-2A>C)
c.841-2A>C (n.841-2A>C)
c.1006-2A>C (n.1006-2A>C)
c.*506-2A>C (n.*506-2A>C)
c.673-2A>C (n.673-2A>C)
c.1132-2A>C (n.1132-2A>C)
c.1024-2A>C (n.1024-2A>C)
c.1177-2A>C (n.1177-2A>C)
c.1129-2A>C (n.1129-2A>C)
c.1012-2A>C (n.1012-2A>C)
c.994-2A>C (n.994-2A>C)
3g.69964845A>GCA16621803MITFc.1114-2A>G (n.1114-2A>G)
c.1111-2A>G (n.1111-2A>G)
n.1336-2A>G
c.1087-2A>G (n.1087-2A>G)
c.1114-69A>G (n.1114-69A>G)
c.1180-2A>G (n.1180-2A>G)
c.859-2A>G (n.859-2A>G)
c.1159-2A>G (n.1159-2A>G)
c.1162-2A>G (n.1162-2A>G)
c.841-2A>G (n.841-2A>G)
c.1006-2A>G (n.1006-2A>G)
c.*506-2A>G (n.*506-2A>G)
c.673-2A>G (n.673-2A>G)
c.1132-2A>G (n.1132-2A>G)
c.1024-2A>G (n.1024-2A>G)
c.1177-2A>G (n.1177-2A>G)
c.1129-2A>G (n.1129-2A>G)
c.1012-2A>G (n.1012-2A>G)
c.994-2A>G (n.994-2A>G)
 ClinVar dbSNP
3g.69964845A>TCA353559299MITFc.1114-2A>T (n.1114-2A>T)
c.1111-2A>T (n.1111-2A>T)
n.1336-2A>T
c.1087-2A>T (n.1087-2A>T)
c.1114-69A>T (n.1114-69A>T)
c.1180-2A>T (n.1180-2A>T)
c.859-2A>T (n.859-2A>T)
c.1159-2A>T (n.1159-2A>T)
c.1162-2A>T (n.1162-2A>T)
c.841-2A>T (n.841-2A>T)
c.1006-2A>T (n.1006-2A>T)
c.*506-2A>T (n.*506-2A>T)
c.673-2A>T (n.673-2A>T)
c.1132-2A>T (n.1132-2A>T)
c.1024-2A>T (n.1024-2A>T)
c.1177-2A>T (n.1177-2A>T)
c.1129-2A>T (n.1129-2A>T)
c.1012-2A>T (n.1012-2A>T)
c.994-2A>T (n.994-2A>T)
3g.69964846G>ACA353559300MITFc.1114-1G>A (n.1114-1G>A)
c.1111-1G>A (n.1111-1G>A)
n.1336-1G>A
c.1087-1G>A (n.1087-1G>A)
c.1114-68G>A (n.1114-68G>A)
c.1180-1G>A (n.1180-1G>A)
c.859-1G>A (n.859-1G>A)
c.1159-1G>A (n.1159-1G>A)
c.1162-1G>A (n.1162-1G>A)
c.841-1G>A (n.841-1G>A)
c.1006-1G>A (n.1006-1G>A)
c.*506-1G>A (n.*506-1G>A)
c.673-1G>A (n.673-1G>A)
c.1132-1G>A (n.1132-1G>A)
c.1024-1G>A (n.1024-1G>A)
c.1177-1G>A (n.1177-1G>A)
c.1129-1G>A (n.1129-1G>A)
c.1012-1G>A (n.1012-1G>A)
c.994-1G>A (n.994-1G>A)
3g.69964846G>CCA353559301MITFc.1114-1G>C (n.1114-1G>C)
c.1111-1G>C (n.1111-1G>C)
n.1336-1G>C
c.1087-1G>C (n.1087-1G>C)
c.1114-68G>C (n.1114-68G>C)
c.1180-1G>C (n.1180-1G>C)
c.859-1G>C (n.859-1G>C)
c.1159-1G>C (n.1159-1G>C)
c.1162-1G>C (n.1162-1G>C)
c.841-1G>C (n.841-1G>C)
c.1006-1G>C (n.1006-1G>C)
c.*506-1G>C (n.*506-1G>C)
c.673-1G>C (n.673-1G>C)
c.1132-1G>C (n.1132-1G>C)
c.1024-1G>C (n.1024-1G>C)
c.1177-1G>C (n.1177-1G>C)
c.1129-1G>C (n.1129-1G>C)
c.1012-1G>C (n.1012-1G>C)
c.994-1G>C (n.994-1G>C)
3g.69964846G>TCA353559302MITFc.1114-1G>T (n.1114-1G>T)
c.1111-1G>T (n.1111-1G>T)
n.1336-1G>T
c.1087-1G>T (n.1087-1G>T)
c.1114-68G>T (n.1114-68G>T)
c.1180-1G>T (n.1180-1G>T)
c.859-1G>T (n.859-1G>T)
c.1159-1G>T (n.1159-1G>T)
c.1162-1G>T (n.1162-1G>T)
c.841-1G>T (n.841-1G>T)
c.1006-1G>T (n.1006-1G>T)
c.*506-1G>T (n.*506-1G>T)
c.673-1G>T (n.673-1G>T)
c.1132-1G>T (n.1132-1G>T)
c.1024-1G>T (n.1024-1G>T)
c.1177-1G>T (n.1177-1G>T)
c.1129-1G>T (n.1129-1G>T)
c.1012-1G>T (n.1012-1G>T)
c.994-1G>T (n.994-1G>T)
3g.69964847G>ACA2490620MITFc.1114G>A (p.Glu372Lys)
c.1111G>A (p.Glu371Lys)
n.1336G>A
c.1087G>A (p.Glu363Lys)
c.1114-67G>A (n.1114-67G>A)
c.1180G>A (p.Glu394Lys)
c.859G>A (p.Glu287Lys)
c.1159G>A (p.Glu387Lys)
c.1162G>A (p.Glu388Lys)
c.841G>A (p.Glu281Lys)
c.1006G>A (p.Glu336Lys)
c.*506G>A (n.*506G>A)
c.673G>A (p.Glu225Lys)
c.1132G>A (p.Glu378Lys)
c.1024G>A (p.Glu342Lys)
c.1177G>A (p.Glu393Lys)
c.1129G>A (p.Glu377Lys)
c.1012G>A (p.Glu338Lys)
c.994G>A (p.Glu332Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.69964847G>CCA353559303MITFc.1114G>C (p.Glu372Gln)
c.1111G>C (p.Glu371Gln)
n.1336G>C
c.1087G>C (p.Glu363Gln)
c.1114-67G>C (n.1114-67G>C)
c.1180G>C (p.Glu394Gln)
c.859G>C (p.Glu287Gln)
c.1159G>C (p.Glu387Gln)
c.1162G>C (p.Glu388Gln)
c.841G>C (p.Glu281Gln)
c.1006G>C (p.Glu336Gln)
c.*506G>C (n.*506G>C)
c.673G>C (p.Glu225Gln)
c.1132G>C (p.Glu378Gln)
c.1024G>C (p.Glu342Gln)
c.1177G>C (p.Glu393Gln)
c.1129G>C (p.Glu377Gln)
c.1012G>C (p.Glu338Gln)
c.994G>C (p.Glu332Gln)
3g.69964847G=CA1373413843MITFc.1114G= (p.Glu372=)
c.1111G= (p.Glu371=)
n.1336G=
c.1087G= (p.Glu363=)
c.1114-67G= (n.1114-67G=)
c.1180G= (p.Glu394=)
c.859G= (p.Glu287=)
c.1159G= (p.Glu387=)
c.1162G= (p.Glu388=)
c.841G= (p.Glu281=)
c.1006G= (p.Glu336=)
c.*506G= (n.*506G=)
c.673G= (p.Glu225=)
c.1132G= (p.Glu378=)
c.1024G= (p.Glu342=)
c.1177G= (p.Glu393=)
c.1129G= (p.Glu377=)
c.1012G= (p.Glu338=)
c.994G= (p.Glu332=)
3g.69964847G>TCA353559304MITFc.1114G>T (p.Glu372Ter)
c.1111G>T (p.Glu371Ter)
n.1336G>T
c.1087G>T (p.Glu363Ter)
c.1114-67G>T (n.1114-67G>T)
c.1180G>T (p.Glu394Ter)
c.859G>T (p.Glu287Ter)
c.1159G>T (p.Glu387Ter)
c.1162G>T (p.Glu388Ter)
c.841G>T (p.Glu281Ter)
c.1006G>T (p.Glu336Ter)
c.*506G>T (n.*506G>T)
c.673G>T (p.Glu225Ter)
c.1132G>T (p.Glu378Ter)
c.1024G>T (p.Glu342Ter)
c.1177G>T (p.Glu393Ter)
c.1129G>T (p.Glu377Ter)
c.1012G>T (p.Glu338Ter)
c.994G>T (p.Glu332Ter)
3g.69964848A>CCA353559305MITFc.1115A>C (p.Glu372Ala)
c.1112A>C (p.Glu371Ala)
n.1337A>C
c.1088A>C (p.Glu363Ala)
c.1114-66A>C (n.1114-66A>C)
c.1181A>C (p.Glu394Ala)
c.860A>C (p.Glu287Ala)
c.1160A>C (p.Glu387Ala)
c.1163A>C (p.Glu388Ala)
c.842A>C (p.Glu281Ala)
c.1007A>C (p.Glu336Ala)
c.*507A>C (n.*507A>C)
c.674A>C (p.Glu225Ala)
c.1133A>C (p.Glu378Ala)
c.1025A>C (p.Glu342Ala)
c.1178A>C (p.Glu393Ala)
c.1130A>C (p.Glu377Ala)
c.1013A>C (p.Glu338Ala)
c.995A>C (p.Glu332Ala)
3g.69964848A>GCA353559306MITFc.1115A>G (p.Glu372Gly)
c.1112A>G (p.Glu371Gly)
n.1337A>G
c.1088A>G (p.Glu363Gly)
c.1114-66A>G (n.1114-66A>G)
c.1181A>G (p.Glu394Gly)
c.860A>G (p.Glu287Gly)
c.1160A>G (p.Glu387Gly)
c.1163A>G (p.Glu388Gly)
c.842A>G (p.Glu281Gly)
c.1007A>G (p.Glu336Gly)
c.*507A>G (n.*507A>G)
c.674A>G (p.Glu225Gly)
c.1133A>G (p.Glu378Gly)
c.1025A>G (p.Glu342Gly)
c.1178A>G (p.Glu393Gly)
c.1130A>G (p.Glu377Gly)
c.1013A>G (p.Glu338Gly)
c.995A>G (p.Glu332Gly)
3g.69964848A>TCA353559307MITFc.1115A>T (p.Glu372Val)
c.1112A>T (p.Glu371Val)
n.1337A>T
c.1088A>T (p.Glu363Val)
c.1114-66A>T (n.1114-66A>T)
c.1181A>T (p.Glu394Val)
c.860A>T (p.Glu287Val)
c.1160A>T (p.Glu387Val)
c.1163A>T (p.Glu388Val)
c.842A>T (p.Glu281Val)
c.1007A>T (p.Glu336Val)
c.*507A>T (n.*507A>T)
c.674A>T (p.Glu225Val)
c.1133A>T (p.Glu378Val)
c.1025A>T (p.Glu342Val)
c.1178A>T (p.Glu393Val)
c.1130A>T (p.Glu377Val)
c.1013A>T (p.Glu338Val)
c.995A>T (p.Glu332Val)
3g.69964849A=CA1373413847MITFc.1116A= (p.Glu372=)
c.1113A= (p.Glu371=)
n.1338A=
c.1089A= (p.Glu363=)
c.1114-65A= (n.1114-65A=)
c.1182A= (p.Glu394=)
c.861A= (p.Glu287=)
c.1161A= (p.Glu387=)
c.1164A= (p.Glu388=)
c.843A= (p.Glu281=)
c.1008A= (p.Glu336=)
c.*508A= (n.*508A=)
c.675A= (p.Glu225=)
c.1134A= (p.Glu378=)
c.1026A= (p.Glu342=)
c.1179A= (p.Glu393=)
c.1131A= (p.Glu377=)
c.1014A= (p.Glu338=)
c.996A= (p.Glu332=)
3g.69964849A>CCA353559308MITFc.1116A>C (p.Glu372Asp)
c.1113A>C (p.Glu371Asp)
n.1338A>C
c.1089A>C (p.Glu363Asp)
c.1114-65A>C (n.1114-65A>C)
c.1182A>C (p.Glu394Asp)
c.861A>C (p.Glu287Asp)
c.1161A>C (p.Glu387Asp)
c.1164A>C (p.Glu388Asp)
c.843A>C (p.Glu281Asp)
c.1008A>C (p.Glu336Asp)
c.*508A>C (n.*508A>C)
c.675A>C (p.Glu225Asp)
c.1134A>C (p.Glu378Asp)
c.1026A>C (p.Glu342Asp)
c.1179A>C (p.Glu393Asp)
c.1131A>C (p.Glu377Asp)
c.1014A>C (p.Glu338Asp)
c.996A>C (p.Glu332Asp)
3g.69964849A>GCA2490621MITFc.1116A>G (p.Glu372=)
c.1113A>G (p.Glu371=)
n.1338A>G
c.1089A>G (p.Glu363=)
c.1114-65A>G (n.1114-65A>G)
c.1182A>G (p.Glu394=)
c.861A>G (p.Glu287=)
c.1161A>G (p.Glu387=)
c.1164A>G (p.Glu388=)
c.843A>G (p.Glu281=)
c.1008A>G (p.Glu336=)
c.*508A>G (n.*508A>G)
c.675A>G (p.Glu225=)
c.1134A>G (p.Glu378=)
c.1026A>G (p.Glu342=)
c.1179A>G (p.Glu393=)
c.1131A>G (p.Glu377=)
c.1014A>G (p.Glu338=)
c.996A>G (p.Glu332=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC
3g.69964849A>TCA77003516MITFc.1116A>T (p.Glu372Asp)
c.1113A>T (p.Glu371Asp)
n.1338A>T
c.1089A>T (p.Glu363Asp)
c.1114-65A>T (n.1114-65A>T)
c.1182A>T (p.Glu394Asp)
c.861A>T (p.Glu287Asp)
c.1161A>T (p.Glu387Asp)
c.1164A>T (p.Glu388Asp)
c.843A>T (p.Glu281Asp)
c.1008A>T (p.Glu336Asp)
c.*508A>T (n.*508A>T)
c.675A>T (p.Glu225Asp)
c.1134A>T (p.Glu378Asp)
c.1026A>T (p.Glu342Asp)
c.1179A>T (p.Glu393Asp)
c.1131A>T (p.Glu377Asp)
c.1014A>T (p.Glu338Asp)
c.996A>T (p.Glu332Asp)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.69964850C>ACA353559309MITFc.1117C>A (p.Leu373Ile)
c.1114C>A (p.Leu372Ile)
n.1339C>A
c.1090C>A (p.Leu364Ile)
c.1114-64C>A (n.1114-64C>A)
c.1183C>A (p.Leu395Ile)
c.862C>A (p.Leu288Ile)
c.1162C>A (p.Leu388Ile)
c.1165C>A (p.Leu389Ile)
c.844C>A (p.Leu282Ile)
c.1009C>A (p.Leu337Ile)
c.*509C>A (n.*509C>A)
c.676C>A (p.Leu226Ile)
c.1135C>A (p.Leu379Ile)
c.1027C>A (p.Leu343Ile)
c.1180C>A (p.Leu394Ile)
c.1132C>A (p.Leu378Ile)
c.1015C>A (p.Leu339Ile)
c.997C>A (p.Leu333Ile)
3g.69964850C=CA1373413854MITFc.1117C= (p.Leu373=)
c.1114C= (p.Leu372=)
n.1339C=
c.1090C= (p.Leu364=)
c.1114-64C= (n.1114-64C=)
c.1183C= (p.Leu395=)
c.862C= (p.Leu288=)
c.1162C= (p.Leu388=)
c.1165C= (p.Leu389=)
c.844C= (p.Leu282=)
c.1009C= (p.Leu337=)
c.*509C= (n.*509C=)
c.676C= (p.Leu226=)
c.1135C= (p.Leu379=)
c.1027C= (p.Leu343=)
c.1180C= (p.Leu394=)
c.1132C= (p.Leu378=)
c.1015C= (p.Leu339=)
c.997C= (p.Leu333=)
3g.69964850C>GCA353559311MITFc.1117C>G (p.Leu373Val)
c.1114C>G (p.Leu372Val)
n.1339C>G
c.1090C>G (p.Leu364Val)
c.1114-64C>G (n.1114-64C>G)
c.1183C>G (p.Leu395Val)
c.862C>G (p.Leu288Val)
c.1162C>G (p.Leu388Val)
c.1165C>G (p.Leu389Val)
c.844C>G (p.Leu282Val)
c.1009C>G (p.Leu337Val)
c.*509C>G (n.*509C>G)
c.676C>G (p.Leu226Val)
c.1135C>G (p.Leu379Val)
c.1027C>G (p.Leu343Val)
c.1180C>G (p.Leu394Val)
c.1132C>G (p.Leu378Val)
c.1015C>G (p.Leu339Val)
c.997C>G (p.Leu333Val)
 dbSNP gnomAD v4
3g.69964850C>TCA353559310MITFc.1117C>T (p.Leu373Phe)
c.1114C>T (p.Leu372Phe)
n.1339C>T
c.1090C>T (p.Leu364Phe)
c.1114-64C>T (n.1114-64C>T)
c.1183C>T (p.Leu395Phe)
c.862C>T (p.Leu288Phe)
c.1162C>T (p.Leu388Phe)
c.1165C>T (p.Leu389Phe)
c.844C>T (p.Leu282Phe)
c.1009C>T (p.Leu337Phe)
c.*509C>T (n.*509C>T)
c.676C>T (p.Leu226Phe)
c.1135C>T (p.Leu379Phe)
c.1027C>T (p.Leu343Phe)
c.1180C>T (p.Leu394Phe)
c.1132C>T (p.Leu378Phe)
c.1015C>T (p.Leu339Phe)
c.997C>T (p.Leu333Phe)
 dbSNP gnomAD v2 gnomAD v4
3g.69964851T>ACA353559312MITFc.1118T>A (p.Leu373His)
c.1115T>A (p.Leu372His)
n.1340T>A
c.1091T>A (p.Leu364His)
c.1114-63T>A (n.1114-63T>A)
c.1184T>A (p.Leu395His)
c.863T>A (p.Leu288His)
c.1163T>A (p.Leu388His)
c.1166T>A (p.Leu389His)
c.845T>A (p.Leu282His)
c.1010T>A (p.Leu337His)
c.*510T>A (n.*510T>A)
c.677T>A (p.Leu226His)
c.1136T>A (p.Leu379His)
c.1028T>A (p.Leu343His)
c.1181T>A (p.Leu394His)
c.1133T>A (p.Leu378His)
c.1016T>A (p.Leu339His)
c.998T>A (p.Leu333His)
3g.69964851T>CCA353559313MITFc.1118T>C (p.Leu373Pro)
c.1115T>C (p.Leu372Pro)
n.1340T>C
c.1091T>C (p.Leu364Pro)
c.1114-63T>C (n.1114-63T>C)
c.1184T>C (p.Leu395Pro)
c.863T>C (p.Leu288Pro)
c.1163T>C (p.Leu388Pro)
c.1166T>C (p.Leu389Pro)
c.845T>C (p.Leu282Pro)
c.1010T>C (p.Leu337Pro)
c.*510T>C (n.*510T>C)
c.677T>C (p.Leu226Pro)
c.1136T>C (p.Leu379Pro)
c.1028T>C (p.Leu343Pro)
c.1181T>C (p.Leu394Pro)
c.1133T>C (p.Leu378Pro)
c.1016T>C (p.Leu339Pro)
c.998T>C (p.Leu333Pro)
3g.69964851T>GCA353559314MITFc.1118T>G (p.Leu373Arg)
c.1115T>G (p.Leu372Arg)
n.1340T>G
c.1091T>G (p.Leu364Arg)
c.1114-63T>G (n.1114-63T>G)
c.1184T>G (p.Leu395Arg)
c.863T>G (p.Leu288Arg)
c.1163T>G (p.Leu388Arg)
c.1166T>G (p.Leu389Arg)
c.845T>G (p.Leu282Arg)
c.1010T>G (p.Leu337Arg)
c.*510T>G (n.*510T>G)
c.677T>G (p.Leu226Arg)
c.1136T>G (p.Leu379Arg)
c.1028T>G (p.Leu343Arg)
c.1181T>G (p.Leu394Arg)
c.1133T>G (p.Leu378Arg)
c.1016T>G (p.Leu339Arg)
c.998T>G (p.Leu333Arg)
3g.69964852T>ACA434433324MITFc.1119T>A (p.Leu373=)
c.1116T>A (p.Leu372=)
n.1341T>A
c.1092T>A (p.Leu364=)
c.1114-62T>A (n.1114-62T>A)
c.1185T>A (p.Leu395=)
c.864T>A (p.Leu288=)
c.1164T>A (p.Leu388=)
c.1167T>A (p.Leu389=)
c.846T>A (p.Leu282=)
c.1011T>A (p.Leu337=)
c.*511T>A (n.*511T>A)
c.678T>A (p.Leu226=)
c.1137T>A (p.Leu379=)
c.1029T>A (p.Leu343=)
c.1182T>A (p.Leu394=)
c.1134T>A (p.Leu378=)
c.1017T>A (p.Leu339=)
c.999T>A (p.Leu333=)
3g.69964852T>CCA434433327MITFc.1119T>C (p.Leu373=)
c.1116T>C (p.Leu372=)
n.1341T>C
c.1092T>C (p.Leu364=)
c.1114-62T>C (n.1114-62T>C)
c.1185T>C (p.Leu395=)
c.864T>C (p.Leu288=)
c.1164T>C (p.Leu388=)
c.1167T>C (p.Leu389=)
c.846T>C (p.Leu282=)
c.1011T>C (p.Leu337=)
c.*511T>C (n.*511T>C)
c.678T>C (p.Leu226=)
c.1137T>C (p.Leu379=)
c.1029T>C (p.Leu343=)
c.1182T>C (p.Leu394=)
c.1134T>C (p.Leu378=)
c.1017T>C (p.Leu339=)
c.999T>C (p.Leu333=)
3g.69964852T>GCA434433325MITFc.1119T>G (p.Leu373=)
c.1116T>G (p.Leu372=)
n.1341T>G
c.1092T>G (p.Leu364=)
c.1114-62T>G (n.1114-62T>G)
c.1185T>G (p.Leu395=)
c.864T>G (p.Leu288=)
c.1164T>G (p.Leu388=)
c.1167T>G (p.Leu389=)
c.846T>G (p.Leu282=)
c.1011T>G (p.Leu337=)
c.*511T>G (n.*511T>G)
c.678T>G (p.Leu226=)
c.1137T>G (p.Leu379=)
c.1029T>G (p.Leu343=)
c.1182T>G (p.Leu394=)
c.1134T>G (p.Leu378=)
c.1017T>G (p.Leu339=)
c.999T>G (p.Leu333=)
3g.69964853G>ACA353559315MITFc.1120G>A (p.Glu374Lys)
c.1117G>A (p.Glu373Lys)
n.1342G>A
c.1093G>A (p.Glu365Lys)
c.1114-61G>A (n.1114-61G>A)
c.1186G>A (p.Glu396Lys)
c.865G>A (p.Glu289Lys)
c.1165G>A (p.Glu389Lys)
c.1168G>A (p.Glu390Lys)
c.847G>A (p.Glu283Lys)
c.1012G>A (p.Glu338Lys)
c.*512G>A (n.*512G>A)
c.679G>A (p.Glu227Lys)
c.1138G>A (p.Glu380Lys)
c.1030G>A (p.Glu344Lys)
c.1183G>A (p.Glu395Lys)
c.1135G>A (p.Glu379Lys)
c.1018G>A (p.Glu340Lys)
c.1000G>A (p.Glu334Lys)
3g.69964853G>CCA353559316MITFc.1120G>C (p.Glu374Gln)
c.1117G>C (p.Glu373Gln)
n.1342G>C
c.1093G>C (p.Glu365Gln)
c.1114-61G>C (n.1114-61G>C)
c.1186G>C (p.Glu396Gln)
c.865G>C (p.Glu289Gln)
c.1165G>C (p.Glu389Gln)
c.1168G>C (p.Glu390Gln)
c.847G>C (p.Glu283Gln)
c.1012G>C (p.Glu338Gln)
c.*512G>C (n.*512G>C)
c.679G>C (p.Glu227Gln)
c.1138G>C (p.Glu380Gln)
c.1030G>C (p.Glu344Gln)
c.1183G>C (p.Glu395Gln)
c.1135G>C (p.Glu379Gln)
c.1018G>C (p.Glu340Gln)
c.1000G>C (p.Glu334Gln)
 gnomAD v4
3g.69964853G>TCA353559317MITFc.1120G>T (p.Glu374Ter)
c.1117G>T (p.Glu373Ter)
n.1342G>T
c.1093G>T (p.Glu365Ter)
c.1114-61G>T (n.1114-61G>T)
c.1186G>T (p.Glu396Ter)
c.865G>T (p.Glu289Ter)
c.1165G>T (p.Glu389Ter)
c.1168G>T (p.Glu390Ter)
c.847G>T (p.Glu283Ter)
c.1012G>T (p.Glu338Ter)
c.*512G>T (n.*512G>T)
c.679G>T (p.Glu227Ter)
c.1138G>T (p.Glu380Ter)
c.1030G>T (p.Glu344Ter)
c.1183G>T (p.Glu395Ter)
c.1135G>T (p.Glu379Ter)
c.1018G>T (p.Glu340Ter)
c.1000G>T (p.Glu334Ter)
3g.69964854A>CCA353559320MITFc.1121A>C (p.Glu374Ala)
c.1118A>C (p.Glu373Ala)
n.1343A>C
c.1094A>C (p.Glu365Ala)
c.1114-60A>C (n.1114-60A>C)
c.1187A>C (p.Glu396Ala)
c.866A>C (p.Glu289Ala)
c.1166A>C (p.Glu389Ala)
c.1169A>C (p.Glu390Ala)
c.848A>C (p.Glu283Ala)
c.1013A>C (p.Glu338Ala)
c.*513A>C (n.*513A>C)
c.680A>C (p.Glu227Ala)
c.1139A>C (p.Glu380Ala)
c.1031A>C (p.Glu344Ala)
c.1184A>C (p.Glu395Ala)
c.1136A>C (p.Glu379Ala)
c.1019A>C (p.Glu340Ala)
c.1001A>C (p.Glu334Ala)
3g.69964854A>GCA353559318MITFc.1121A>G (p.Glu374Gly)
c.1118A>G (p.Glu373Gly)
n.1343A>G
c.1094A>G (p.Glu365Gly)
c.1114-60A>G (n.1114-60A>G)
c.1187A>G (p.Glu396Gly)
c.866A>G (p.Glu289Gly)
c.1166A>G (p.Glu389Gly)
c.1169A>G (p.Glu390Gly)
c.848A>G (p.Glu283Gly)
c.1013A>G (p.Glu338Gly)
c.*513A>G (n.*513A>G)
c.680A>G (p.Glu227Gly)
c.1139A>G (p.Glu380Gly)
c.1031A>G (p.Glu344Gly)
c.1184A>G (p.Glu395Gly)
c.1136A>G (p.Glu379Gly)
c.1019A>G (p.Glu340Gly)
c.1001A>G (p.Glu334Gly)
3g.69964854A>TCA353559319MITFc.1121A>T (p.Glu374Val)
c.1118A>T (p.Glu373Val)
n.1343A>T
c.1094A>T (p.Glu365Val)
c.1114-60A>T (n.1114-60A>T)
c.1187A>T (p.Glu396Val)
c.866A>T (p.Glu289Val)
c.1166A>T (p.Glu389Val)
c.1169A>T (p.Glu390Val)
c.848A>T (p.Glu283Val)
c.1013A>T (p.Glu338Val)
c.*513A>T (n.*513A>T)
c.680A>T (p.Glu227Val)
c.1139A>T (p.Glu380Val)
c.1031A>T (p.Glu344Val)
c.1184A>T (p.Glu395Val)
c.1136A>T (p.Glu379Val)
c.1019A>T (p.Glu340Val)
c.1001A>T (p.Glu334Val)
3g.69964855A>CCA353559321MITFc.1122A>C (p.Glu374Asp)
c.1119A>C (p.Glu373Asp)
n.1344A>C
c.1095A>C (p.Glu365Asp)
c.1114-59A>C (n.1114-59A>C)
c.1188A>C (p.Glu396Asp)
c.867A>C (p.Glu289Asp)
c.1167A>C (p.Glu389Asp)
c.1170A>C (p.Glu390Asp)
c.849A>C (p.Glu283Asp)
c.1014A>C (p.Glu338Asp)
c.*514A>C (n.*514A>C)
c.681A>C (p.Glu227Asp)
c.1140A>C (p.Glu380Asp)
c.1032A>C (p.Glu344Asp)
c.1185A>C (p.Glu395Asp)
c.1137A>C (p.Glu379Asp)
c.1020A>C (p.Glu340Asp)
c.1002A>C (p.Glu334Asp)
3g.69964855A>GCA434433330MITFc.1122A>G (p.Glu374=)
c.1119A>G (p.Glu373=)
n.1344A>G
c.1095A>G (p.Glu365=)
c.1114-59A>G (n.1114-59A>G)
c.1188A>G (p.Glu396=)
c.867A>G (p.Glu289=)
c.1167A>G (p.Glu389=)
c.1170A>G (p.Glu390=)
c.849A>G (p.Glu283=)
c.1014A>G (p.Glu338=)
c.*514A>G (n.*514A>G)
c.681A>G (p.Glu227=)
c.1140A>G (p.Glu380=)
c.1032A>G (p.Glu344=)
c.1185A>G (p.Glu395=)
c.1137A>G (p.Glu379=)
c.1020A>G (p.Glu340=)
c.1002A>G (p.Glu334=)
 gnomAD v4
3g.69964855A>TCA353559322MITFc.1122A>T (p.Glu374Asp)
c.1119A>T (p.Glu373Asp)
n.1344A>T
c.1095A>T (p.Glu365Asp)
c.1114-59A>T (n.1114-59A>T)
c.1188A>T (p.Glu396Asp)
c.867A>T (p.Glu289Asp)
c.1167A>T (p.Glu389Asp)
c.1170A>T (p.Glu390Asp)
c.849A>T (p.Glu283Asp)
c.1014A>T (p.Glu338Asp)
c.*514A>T (n.*514A>T)
c.681A>T (p.Glu227Asp)
c.1140A>T (p.Glu380Asp)
c.1032A>T (p.Glu344Asp)
c.1185A>T (p.Glu395Asp)
c.1137A>T (p.Glu379Asp)
c.1020A>T (p.Glu340Asp)
c.1002A>T (p.Glu334Asp)
3g.69964856A>CCA353559323MITFc.1123A>C (p.Met375Leu)
c.1120A>C (p.Met374Leu)
n.1345A>C
c.1096A>C (p.Met366Leu)
c.1114-58A>C (n.1114-58A>C)
c.1189A>C (p.Met397Leu)
c.868A>C (p.Met290Leu)
c.1168A>C (p.Met390Leu)
c.1171A>C (p.Met391Leu)
c.850A>C (p.Met284Leu)
c.1015A>C (p.Met339Leu)
c.*515A>C (n.*515A>C)
c.682A>C (p.Met228Leu)
c.1141A>C (p.Met381Leu)
c.1033A>C (p.Met345Leu)
c.1186A>C (p.Met396Leu)
c.1138A>C (p.Met380Leu)
c.1021A>C (p.Met341Leu)
c.1003A>C (p.Met335Leu)
3g.69964856A>GCA353559324MITFc.1123A>G (p.Met375Val)
c.1120A>G (p.Met374Val)
n.1345A>G
c.1096A>G (p.Met366Val)
c.1114-58A>G (n.1114-58A>G)
c.1189A>G (p.Met397Val)
c.868A>G (p.Met290Val)
c.1168A>G (p.Met390Val)
c.1171A>G (p.Met391Val)
c.850A>G (p.Met284Val)
c.1015A>G (p.Met339Val)
c.*515A>G (n.*515A>G)
c.682A>G (p.Met228Val)
c.1141A>G (p.Met381Val)
c.1033A>G (p.Met345Val)
c.1186A>G (p.Met396Val)
c.1138A>G (p.Met380Val)
c.1021A>G (p.Met341Val)
c.1003A>G (p.Met335Val)
 gnomAD v4
3g.69964856A>TCA353559325MITFc.1123A>T (p.Met375Leu)
c.1120A>T (p.Met374Leu)
n.1345A>T
c.1096A>T (p.Met366Leu)
c.1114-58A>T (n.1114-58A>T)
c.1189A>T (p.Met397Leu)
c.868A>T (p.Met290Leu)
c.1168A>T (p.Met390Leu)
c.1171A>T (p.Met391Leu)
c.850A>T (p.Met284Leu)
c.1015A>T (p.Met339Leu)
c.*515A>T (n.*515A>T)
c.682A>T (p.Met228Leu)
c.1141A>T (p.Met381Leu)
c.1033A>T (p.Met345Leu)
c.1186A>T (p.Met396Leu)
c.1138A>T (p.Met380Leu)
c.1021A>T (p.Met341Leu)
c.1003A>T (p.Met335Leu)
3g.69964857T>ACA353559326MITFc.1124T>A (p.Met375Lys)
c.1121T>A (p.Met374Lys)
n.1346T>A
c.1097T>A (p.Met366Lys)
c.1114-57T>A (n.1114-57T>A)
c.1190T>A (p.Met397Lys)
c.869T>A (p.Met290Lys)
c.1169T>A (p.Met390Lys)
c.1172T>A (p.Met391Lys)
c.851T>A (p.Met284Lys)
c.1016T>A (p.Met339Lys)
c.*516T>A (n.*516T>A)
c.683T>A (p.Met228Lys)
c.1142T>A (p.Met381Lys)
c.1034T>A (p.Met345Lys)
c.1187T>A (p.Met396Lys)
c.1139T>A (p.Met380Lys)
c.1022T>A (p.Met341Lys)
c.1004T>A (p.Met335Lys)
3g.69964857T>CCA353559328MITFc.1124T>C (p.Met375Thr)
c.1121T>C (p.Met374Thr)
n.1346T>C
c.1097T>C (p.Met366Thr)
c.1114-57T>C (n.1114-57T>C)
c.1190T>C (p.Met397Thr)
c.869T>C (p.Met290Thr)
c.1169T>C (p.Met390Thr)
c.1172T>C (p.Met391Thr)
c.851T>C (p.Met284Thr)
c.1016T>C (p.Met339Thr)
c.*516T>C (n.*516T>C)
c.683T>C (p.Met228Thr)
c.1142T>C (p.Met381Thr)
c.1034T>C (p.Met345Thr)
c.1187T>C (p.Met396Thr)
c.1139T>C (p.Met380Thr)
c.1022T>C (p.Met341Thr)
c.1004T>C (p.Met335Thr)
3g.69964857T>GCA353559327MITFc.1124T>G (p.Met375Arg)
c.1121T>G (p.Met374Arg)
n.1346T>G
c.1097T>G (p.Met366Arg)
c.1114-57T>G (n.1114-57T>G)
c.1190T>G (p.Met397Arg)
c.869T>G (p.Met290Arg)
c.1169T>G (p.Met390Arg)
c.1172T>G (p.Met391Arg)
c.851T>G (p.Met284Arg)
c.1016T>G (p.Met339Arg)
c.*516T>G (n.*516T>G)
c.683T>G (p.Met228Arg)
c.1142T>G (p.Met381Arg)
c.1034T>G (p.Met345Arg)
c.1187T>G (p.Met396Arg)
c.1139T>G (p.Met380Arg)
c.1022T>G (p.Met341Arg)
c.1004T>G (p.Met335Arg)
3g.69964858G>ACA353559329MITFc.1125G>A (p.Met375Ile)
c.1122G>A (p.Met374Ile)
n.1347G>A
c.1098G>A (p.Met366Ile)
c.1114-56G>A (n.1114-56G>A)
c.1191G>A (p.Met397Ile)
c.870G>A (p.Met290Ile)
c.1170G>A (p.Met390Ile)
c.1173G>A (p.Met391Ile)
c.852G>A (p.Met284Ile)
c.1017G>A (p.Met339Ile)
c.*517G>A (n.*517G>A)
c.684G>A (p.Met228Ile)
c.1143G>A (p.Met381Ile)
c.1035G>A (p.Met345Ile)
c.1188G>A (p.Met396Ile)
c.1140G>A (p.Met380Ile)
c.1023G>A (p.Met341Ile)
c.1005G>A (p.Met335Ile)
 dbSNP gnomAD v4
3g.69964858G>CCA353559330MITFc.1125G>C (p.Met375Ile)
c.1122G>C (p.Met374Ile)
n.1347G>C
c.1098G>C (p.Met366Ile)
c.1114-56G>C (n.1114-56G>C)
c.1191G>C (p.Met397Ile)
c.870G>C (p.Met290Ile)
c.1170G>C (p.Met390Ile)
c.1173G>C (p.Met391Ile)
c.852G>C (p.Met284Ile)
c.1017G>C (p.Met339Ile)
c.*517G>C (n.*517G>C)
c.684G>C (p.Met228Ile)
c.1143G>C (p.Met381Ile)
c.1035G>C (p.Met345Ile)
c.1188G>C (p.Met396Ile)
c.1140G>C (p.Met380Ile)
c.1023G>C (p.Met341Ile)
c.1005G>C (p.Met335Ile)
3g.69964858G>TCA353559331MITFc.1125G>T (p.Met375Ile)
c.1122G>T (p.Met374Ile)
n.1347G>T
c.1098G>T (p.Met366Ile)
c.1114-56G>T (n.1114-56G>T)
c.1191G>T (p.Met397Ile)
c.870G>T (p.Met290Ile)
c.1170G>T (p.Met390Ile)
c.1173G>T (p.Met391Ile)
c.852G>T (p.Met284Ile)
c.1017G>T (p.Met339Ile)
c.*517G>T (n.*517G>T)
c.684G>T (p.Met228Ile)
c.1143G>T (p.Met381Ile)
c.1035G>T (p.Met345Ile)
c.1188G>T (p.Met396Ile)
c.1140G>T (p.Met380Ile)
c.1023G>T (p.Met341Ile)
c.1005G>T (p.Met335Ile)
3g.69964859C>ACA353559332MITFc.1126C>A (p.Gln376Lys)
c.1123C>A (p.Gln375Lys)
n.1348C>A
c.1099C>A (p.Gln367Lys)
c.1114-55C>A (n.1114-55C>A)
c.1192C>A (p.Gln398Lys)
c.871C>A (p.Gln291Lys)
c.1171C>A (p.Gln391Lys)
c.1174C>A (p.Gln392Lys)
c.853C>A (p.Gln285Lys)
c.1018C>A (p.Gln340Lys)
c.*518C>A (n.*518C>A)
c.685C>A (p.Gln229Lys)
c.1144C>A (p.Gln382Lys)
c.1036C>A (p.Gln346Lys)
c.1189C>A (p.Gln397Lys)
c.1141C>A (p.Gln381Lys)
c.1024C>A (p.Gln342Lys)
c.1006C>A (p.Gln336Lys)
 dbSNP
3g.69964859C=CA1373413857MITFc.1126C= (p.Gln376=)
c.1123C= (p.Gln375=)
n.1348C=
c.1099C= (p.Gln367=)
c.1114-55C= (n.1114-55C=)
c.1192C= (p.Gln398=)
c.871C= (p.Gln291=)
c.1171C= (p.Gln391=)
c.1174C= (p.Gln392=)
c.853C= (p.Gln285=)
c.1018C= (p.Gln340=)
c.*518C= (n.*518C=)
c.685C= (p.Gln229=)
c.1144C= (p.Gln382=)
c.1036C= (p.Gln346=)
c.1189C= (p.Gln397=)
c.1141C= (p.Gln381=)
c.1024C= (p.Gln342=)
c.1006C= (p.Gln336=)
3g.69964859C>GCA353559333MITFc.1126C>G (p.Gln376Glu)
c.1123C>G (p.Gln375Glu)
n.1348C>G
c.1099C>G (p.Gln367Glu)
c.1114-55C>G (n.1114-55C>G)
c.1192C>G (p.Gln398Glu)
c.871C>G (p.Gln291Glu)
c.1171C>G (p.Gln391Glu)
c.1174C>G (p.Gln392Glu)
c.853C>G (p.Gln285Glu)
c.1018C>G (p.Gln340Glu)
c.*518C>G (n.*518C>G)
c.685C>G (p.Gln229Glu)
c.1144C>G (p.Gln382Glu)
c.1036C>G (p.Gln346Glu)
c.1189C>G (p.Gln397Glu)
c.1141C>G (p.Gln381Glu)
c.1024C>G (p.Gln342Glu)
c.1006C>G (p.Gln336Glu)
 ClinVar
3g.69964859C>TCA353559334MITFc.1126C>T (p.Gln376Ter)
c.1123C>T (p.Gln375Ter)
n.1348C>T
c.1099C>T (p.Gln367Ter)
c.1114-55C>T (n.1114-55C>T)
c.1192C>T (p.Gln398Ter)
c.871C>T (p.Gln291Ter)
c.1171C>T (p.Gln391Ter)
c.1174C>T (p.Gln392Ter)
c.853C>T (p.Gln285Ter)
c.1018C>T (p.Gln340Ter)
c.*518C>T (n.*518C>T)
c.685C>T (p.Gln229Ter)
c.1144C>T (p.Gln382Ter)
c.1036C>T (p.Gln346Ter)
c.1189C>T (p.Gln397Ter)
c.1141C>T (p.Gln381Ter)
c.1024C>T (p.Gln342Ter)
c.1006C>T (p.Gln336Ter)

Number of alleles fetched