Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.55957050A>CCA385216787PMELc.1253T>G (p.Val418Gly)
c.680T>G (p.Val227Gly)
c.789T>G
n.235+58T>G
c.359-1187T>G (n.359-1187T>G)
c.995T>G (p.Val332Gly)
c.1127T>G (p.Val376Gly)
12g.55957050A>GCA385216788PMELc.1253T>C (p.Val418Ala)
c.680T>C (p.Val227Ala)
c.789T>C
n.235+58T>C
c.359-1187T>C (n.359-1187T>C)
c.995T>C (p.Val332Ala)
c.1127T>C (p.Val376Ala)
12g.55957050A>TCA385216789PMELc.1253T>A (p.Val418Glu)
c.680T>A (p.Val227Glu)
c.789T>A
n.235+58T>A
c.359-1187T>A (n.359-1187T>A)
c.995T>A (p.Val332Glu)
c.1127T>A (p.Val376Glu)
12g.55957050_55957051delinsACCA2038181044PMELc.1252_1253delinsGT (p.Val418=)
c.679_680delinsGT (p.Val227=)
c.788_789delinsGT
n.235+57_235+58delinsGT
c.359-1188_359-1187delinsGT (n.359-1188_359-1187delinsGT)
c.994_995delinsGT (p.Val332=)
c.1126_1127delinsGT (p.Val376=)
12g.55957051C>ACA385216792PMELc.1252G>T (p.Val418Leu)
c.679G>T (p.Val227Leu)
c.788G>T
n.235+57G>T
c.359-1188G>T (n.359-1188G>T)
c.994G>T (p.Val332Leu)
c.1126G>T (p.Val376Leu)
12g.55957051C>GCA385216795PMELc.1252G>C (p.Val418Leu)
c.679G>C (p.Val227Leu)
c.788G>C
n.235+57G>C
c.359-1188G>C (n.359-1188G>C)
c.994G>C (p.Val332Leu)
c.1126G>C (p.Val376Leu)
12g.55957051C>TCA385216793PMELc.1252G>A (p.Val418Ile)
c.679G>A (p.Val227Ile)
c.788G>A
n.235+57G>A
c.359-1188G>A (n.359-1188G>A)
c.994G>A (p.Val332Ile)
c.1126G>A (p.Val376Ile)
12g.55957052delCA2038181046PMELc.1252del (p.Val418Ter)
c.679del (p.Val227Ter)
c.788del
n.235+57del
c.359-1188del (n.359-1188del)
c.994del (p.Val332Ter)
c.1126del (p.Val376Ter)
 dbSNP
12g.55957052C>ACA385216797PMELc.1251G>T (p.Gln417His)
c.678G>T (p.Gln226His)
c.787G>T
n.235+56G>T
c.359-1189G>T (n.359-1189G>T)
c.993G>T (p.Gln331His)
c.1125G>T (p.Gln375His)
12g.55957052C=CA2038181047PMELc.1251G= (p.Gln417=)
c.678G= (p.Gln226=)
c.787G=
n.235+56G=
c.359-1189G= (n.359-1189G=)
c.993G= (p.Gln331=)
c.1125G= (p.Gln375=)
12g.55957052C>GCA385216799PMELc.1251G>C (p.Gln417His)
c.678G>C (p.Gln226His)
c.787G>C
n.235+56G>C
c.359-1189G>C (n.359-1189G>C)
c.993G>C (p.Gln331His)
c.1125G>C (p.Gln375His)
12g.55957052C>TCA480364750PMELc.1251G>A (p.Gln417=)
c.678G>A (p.Gln226=)
c.787G>A
n.235+56G>A
c.359-1189G>A (n.359-1189G>A)
c.993G>A (p.Gln331=)
c.1125G>A (p.Gln375=)
 dbSNP gnomAD v3 gnomAD v4
12g.55957053T>ACA6620047PMELc.1250A>T (p.Gln417Leu)
c.677A>T (p.Gln226Leu)
c.786A>T
n.235+55A>T
c.359-1190A>T (n.359-1190A>T)
c.992A>T (p.Gln331Leu)
c.1124A>T (p.Gln375Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55957053T>CCA385216802PMELc.1250A>G (p.Gln417Arg)
c.677A>G (p.Gln226Arg)
c.786A>G
n.235+55A>G
c.359-1190A>G (n.359-1190A>G)
c.992A>G (p.Gln331Arg)
c.1124A>G (p.Gln375Arg)
12g.55957053T>GCA385216804PMELc.1250A>C (p.Gln417Pro)
c.677A>C (p.Gln226Pro)
c.786A>C
n.235+55A>C
c.359-1190A>C (n.359-1190A>C)
c.992A>C (p.Gln331Pro)
c.1124A>C (p.Gln375Pro)
12g.55957053T=CA2038181048PMELc.1250A= (p.Gln417=)
c.677A= (p.Gln226=)
c.786A=
n.235+55A=
c.359-1190A= (n.359-1190A=)
c.992A= (p.Gln331=)
c.1124A= (p.Gln375=)
12g.55957054G>ACA385216805PMELc.1249C>T (p.Gln417Ter)
c.676C>T (p.Gln226Ter)
c.785C>T
n.235+54C>T
c.359-1191C>T (n.359-1191C>T)
c.991C>T (p.Gln331Ter)
c.1123C>T (p.Gln375Ter)
12g.55957054G>CCA385216806PMELc.1249C>G (p.Gln417Glu)
c.676C>G (p.Gln226Glu)
c.785C>G
n.235+54C>G
c.359-1191C>G (n.359-1191C>G)
c.991C>G (p.Gln331Glu)
c.1123C>G (p.Gln375Glu)
12g.55957054G>TCA385216808PMELc.1249C>A (p.Gln417Lys)
c.676C>A (p.Gln226Lys)
c.785C>A
n.235+54C>A
c.359-1191C>A (n.359-1191C>A)
c.991C>A (p.Gln331Lys)
c.1123C>A (p.Gln375Lys)
12g.55957055T>ACA480364754PMELc.1248A>T (p.Ala416=)
c.675A>T (p.Ala225=)
c.784A>T
n.235+53A>T
c.359-1192A>T (n.359-1192A>T)
c.990A>T (p.Ala330=)
c.1122A>T (p.Ala374=)
12g.55957055T>CCA480364755PMELc.1248A>G (p.Ala416=)
c.675A>G (p.Ala225=)
c.784A>G
n.235+53A>G
c.359-1192A>G (n.359-1192A>G)
c.990A>G (p.Ala330=)
c.1122A>G (p.Ala374=)
12g.55957055T>GCA480364756PMELc.1248A>C (p.Ala416=)
c.675A>C (p.Ala225=)
c.784A>C
n.235+53A>C
c.359-1192A>C (n.359-1192A>C)
c.990A>C (p.Ala330=)
c.1122A>C (p.Ala374=)
12g.55957056G>ACA385216809PMELc.1247C>T (p.Ala416Val)
c.674C>T (p.Ala225Val)
c.783C>T
n.235+52C>T
c.359-1193C>T (n.359-1193C>T)
c.989C>T (p.Ala330Val)
c.1121C>T (p.Ala374Val)
12g.55957056G>CCA385216811PMELc.1247C>G (p.Ala416Gly)
c.674C>G (p.Ala225Gly)
c.783C>G
n.235+52C>G
c.359-1193C>G (n.359-1193C>G)
c.989C>G (p.Ala330Gly)
c.1121C>G (p.Ala374Gly)
12g.55957056G>TCA385216812PMELc.1247C>A (p.Ala416Glu)
c.674C>A (p.Ala225Glu)
c.783C>A
n.235+52C>A
c.359-1193C>A (n.359-1193C>A)
c.989C>A (p.Ala330Glu)
c.1121C>A (p.Ala374Glu)
12g.55957057C>ACA385216818PMELc.1246G>T (p.Ala416Ser)
c.673G>T (p.Ala225Ser)
c.782G>T
n.235+51G>T
c.359-1194G>T (n.359-1194G>T)
c.988G>T (p.Ala330Ser)
c.1120G>T (p.Ala374Ser)
12g.55957057C=CA2038181052PMELc.1246G= (p.Ala416=)
c.673G= (p.Ala225=)
c.782G=
n.235+51G=
c.359-1194G= (n.359-1194G=)
c.988G= (p.Ala330=)
c.1120G= (p.Ala374=)
12g.55957057C>GCA385216816PMELc.1246G>C (p.Ala416Pro)
c.673G>C (p.Ala225Pro)
c.782G>C
n.235+51G>C
c.359-1194G>C (n.359-1194G>C)
c.988G>C (p.Ala330Pro)
c.1120G>C (p.Ala374Pro)
 dbSNP
12g.55957057C>TCA385216814PMELc.1246G>A (p.Ala416Thr)
c.673G>A (p.Ala225Thr)
c.782G>A
n.235+51G>A
c.359-1194G>A (n.359-1194G>A)
c.988G>A (p.Ala330Thr)
c.1120G>A (p.Ala374Thr)
12g.55957058A>CCA480364760PMELc.1245T>G (p.Ala415=)
c.672T>G (p.Ala224=)
c.781T>G
n.235+50T>G
c.359-1195T>G (n.359-1195T>G)
c.987T>G (p.Ala329=)
c.1119T>G (p.Ala373=)
 gnomAD v4
12g.55957058A>GCA480364761PMELc.1245T>C (p.Ala415=)
c.672T>C (p.Ala224=)
c.781T>C
n.235+50T>C
c.359-1195T>C (n.359-1195T>C)
c.987T>C (p.Ala329=)
c.1119T>C (p.Ala373=)
12g.55957058A>TCA480364762PMELc.1245T>A (p.Ala415=)
c.672T>A (p.Ala224=)
c.781T>A
n.235+50T>A
c.359-1195T>A (n.359-1195T>A)
c.987T>A (p.Ala329=)
c.1119T>A (p.Ala373=)
12g.55957059G>ACA385216820PMELc.1244C>T (p.Ala415Val)
c.671C>T (p.Ala224Val)
c.780C>T
n.235+49C>T
c.359-1196C>T (n.359-1196C>T)
c.986C>T (p.Ala329Val)
c.1118C>T (p.Ala373Val)
 COSMIC
12g.55957059G>CCA385216821PMELc.1244C>G (p.Ala415Gly)
c.671C>G (p.Ala224Gly)
c.780C>G
n.235+49C>G
c.359-1196C>G (n.359-1196C>G)
c.986C>G (p.Ala329Gly)
c.1118C>G (p.Ala373Gly)
12g.55957059G>TCA385216823PMELc.1244C>A (p.Ala415Asp)
c.671C>A (p.Ala224Asp)
c.780C>A
n.235+49C>A
c.359-1196C>A (n.359-1196C>A)
c.986C>A (p.Ala329Asp)
c.1118C>A (p.Ala373Asp)
12g.55957060C>ACA385216824PMELc.1243G>T (p.Ala415Ser)
c.671-1G>T (n.671-1G>T)
c.780-1G>T
n.235+48G>T
c.359-1197G>T (n.359-1197G>T)
c.985G>T (p.Ala329Ser)
c.1118-1G>T (n.1118-1G>T)
12g.55957060C>GCA385216826PMELc.1243G>C (p.Ala415Pro)
c.671-1G>C (n.671-1G>C)
c.780-1G>C
n.235+48G>C
c.359-1197G>C (n.359-1197G>C)
c.985G>C (p.Ala329Pro)
c.1118-1G>C (n.1118-1G>C)
12g.55957060C>TCA385216827PMELc.1243G>A (p.Ala415Thr)
c.671-1G>A (n.671-1G>A)
c.780-1G>A
n.235+48G>A
c.359-1197G>A (n.359-1197G>A)
c.985G>A (p.Ala329Thr)
c.1118-1G>A (n.1118-1G>A)
 gnomAD v4
12g.55957061T>ACA385216830PMELc.1242A>T (p.Thr414=)
c.671-2A>T (n.671-2A>T)
c.780-2A>T
n.235+47A>T
c.359-1198A>T (n.359-1198A>T)
c.984A>T (p.Thr328=)
c.1118-2A>T (n.1118-2A>T)
12g.55957061T>CCA6620048PMELc.1242A>G (p.Thr414=)
c.671-2A>G (n.671-2A>G)
c.780-2A>G
n.235+47A>G
c.359-1198A>G (n.359-1198A>G)
c.984A>G (p.Thr328=)
c.1118-2A>G (n.1118-2A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957061T>GCA385216831PMELc.1242A>C (p.Thr414=)
c.671-2A>C (n.671-2A>C)
c.780-2A>C
n.235+47A>C
c.359-1198A>C (n.359-1198A>C)
c.984A>C (p.Thr328=)
c.1118-2A>C (n.1118-2A>C)
12g.55957061T=CA2038181062PMELc.1242A= (p.Thr414=)
c.671-2A= (n.671-2A=)
c.780-2A=
n.235+47A=
c.359-1198A= (n.359-1198A=)
c.984A= (p.Thr328=)
c.1118-2A= (n.1118-2A=)
12g.55957062G>ACA385216833PMELc.1241C>T (p.Thr414Ile)
c.671-3C>T (n.671-3C>T)
c.780-3C>T
n.235+46C>T
c.359-1199C>T (n.359-1199C>T)
c.983C>T (p.Thr328Ile)
c.1118-3C>T (n.1118-3C>T)
 dbSNP gnomAD v2 gnomAD v4
12g.55957062G>CCA385216835PMELc.1241C>G (p.Thr414Arg)
c.671-3C>G (n.671-3C>G)
c.780-3C>G
n.235+46C>G
c.359-1199C>G (n.359-1199C>G)
c.983C>G (p.Thr328Arg)
c.1118-3C>G (n.1118-3C>G)
12g.55957062G=CA2038181068PMELc.1241C= (p.Thr414=)
c.671-3C= (n.671-3C=)
c.780-3C=
n.235+46C=
c.359-1199C= (n.359-1199C=)
c.983C= (p.Thr328=)
c.1118-3C= (n.1118-3C=)
12g.55957062G>TCA385216837PMELc.1241C>A (p.Thr414Lys)
c.671-3C>A (n.671-3C>A)
c.780-3C>A
n.235+46C>A
c.359-1199C>A (n.359-1199C>A)
c.983C>A (p.Thr328Lys)
c.1118-3C>A (n.1118-3C>A)
12g.55957063T>ACA385216842PMELc.1240A>T (p.Thr414Ser)
c.671-4A>T (n.671-4A>T)
c.780-4A>T
n.235+45A>T
c.359-1200A>T (n.359-1200A>T)
c.982A>T (p.Thr328Ser)
c.1118-4A>T (n.1118-4A>T)
12g.55957063T>CCA385216840PMELc.1240A>G (p.Thr414Ala)
c.671-4A>G (n.671-4A>G)
c.780-4A>G
n.235+45A>G
c.359-1200A>G (n.359-1200A>G)
c.982A>G (p.Thr328Ala)
c.1118-4A>G (n.1118-4A>G)
 COSMIC
12g.55957063T>GCA385216839PMELc.1240A>C (p.Thr414Pro)
c.671-4A>C (n.671-4A>C)
c.780-4A>C
n.235+45A>C
c.359-1200A>C (n.359-1200A>C)
c.982A>C (p.Thr328Pro)
c.1118-4A>C (n.1118-4A>C)
12g.55957064G>ACA480364763PMELc.1239C>T (p.Thr413=)
c.671-5C>T (n.671-5C>T)
c.780-5C>T
n.235+44C>T
c.359-1201C>T (n.359-1201C>T)
c.981C>T (p.Thr327=)
c.1118-5C>T (n.1118-5C>T)

Number of alleles fetched