Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.55956942C>ACA2619240839PMELc.1354+7G>T (n.1354+7G>T)
c.781+7G>T (n.781+7G>T)
c.890+7G>T
n.235+166G>T
c.359-1079G>T (n.359-1079G>T)
c.1096+7G>T (n.1096+7G>T)
c.1228+7G>T (n.1228+7G>T)
 gnomAD v4
12g.55956942C=CA2038180829PMELc.1354+7G= (n.1354+7G=)
c.781+7G= (n.781+7G=)
c.890+7G=
n.235+166G=
c.359-1079G= (n.359-1079G=)
c.1096+7G= (n.1096+7G=)
c.1228+7G= (n.1228+7G=)
12g.55956942C>TCA237590819PMELc.1354+7G>A (n.1354+7G>A)
c.781+7G>A (n.781+7G>A)
c.890+7G>A
n.235+166G>A
c.359-1079G>A (n.359-1079G>A)
c.1096+7G>A (n.1096+7G>A)
c.1228+7G>A (n.1228+7G>A)
 dbSNP
12g.55956943T>CCA2619240840PMELc.1354+6A>G (n.1354+6A>G)
c.781+6A>G (n.781+6A>G)
c.890+6A>G
n.235+165A>G
c.359-1080A>G (n.359-1080A>G)
c.1096+6A>G (n.1096+6A>G)
c.1228+6A>G (n.1228+6A>G)
 gnomAD v4
12g.55956944C=CA2038180835PMELc.1354+5G= (n.1354+5G=)
c.781+5G= (n.781+5G=)
c.890+5G=
n.235+164G=
c.359-1081G= (n.359-1081G=)
c.1096+5G= (n.1096+5G=)
c.1228+5G= (n.1228+5G=)
12g.55956944C>TCA237590820PMELc.1354+5G>A (n.1354+5G>A)
c.781+5G>A (n.781+5G>A)
c.890+5G>A
n.235+164G>A
c.359-1081G>A (n.359-1081G>A)
c.1096+5G>A (n.1096+5G>A)
c.1228+5G>A (n.1228+5G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55956946T>CCA2038180842PMELc.1354+3A>G (n.1354+3A>G)
c.781+3A>G (n.781+3A>G)
c.890+3A>G
n.235+162A>G
c.359-1083A>G (n.359-1083A>G)
c.1096+3A>G (n.1096+3A>G)
c.1228+3A>G (n.1228+3A>G)
 dbSNP
12g.55956946T=CA2038180840PMELc.1354+3A= (n.1354+3A=)
c.781+3A= (n.781+3A=)
c.890+3A=
n.235+162A=
c.359-1083A= (n.359-1083A=)
c.1096+3A= (n.1096+3A=)
c.1228+3A= (n.1228+3A=)
12g.55956947A=CA2038180848PMELc.1354+2T= (n.1354+2T=)
c.781+2T= (n.781+2T=)
c.890+2T=
n.235+161T=
c.359-1084T= (n.359-1084T=)
c.1096+2T= (n.1096+2T=)
c.1228+2T= (n.1228+2T=)
12g.55956947A>CCA385216423PMELc.1354+2T>G (n.1354+2T>G)
c.781+2T>G (n.781+2T>G)
c.890+2T>G
n.235+161T>G
c.359-1084T>G (n.359-1084T>G)
c.1096+2T>G (n.1096+2T>G)
c.1228+2T>G (n.1228+2T>G)
 gnomAD v4
12g.55956947A>GCA6620025PMELc.1354+2T>C (n.1354+2T>C)
c.781+2T>C (n.781+2T>C)
c.890+2T>C
n.235+161T>C
c.359-1084T>C (n.359-1084T>C)
c.1096+2T>C (n.1096+2T>C)
c.1228+2T>C (n.1228+2T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55956947A>TCA385216421PMELc.1354+2T>A (n.1354+2T>A)
c.781+2T>A (n.781+2T>A)
c.890+2T>A
n.235+161T>A
c.359-1084T>A (n.359-1084T>A)
c.1096+2T>A (n.1096+2T>A)
c.1228+2T>A (n.1228+2T>A)
12g.55956948C>ACA385216425PMELc.1354+1G>T (n.1354+1G>T)
c.781+1G>T (n.781+1G>T)
c.890+1G>T
n.235+160G>T
c.359-1085G>T (n.359-1085G>T)
c.1096+1G>T (n.1096+1G>T)
c.1228+1G>T (n.1228+1G>T)
12g.55956948C>GCA385216426PMELc.1354+1G>C (n.1354+1G>C)
c.781+1G>C (n.781+1G>C)
c.890+1G>C
n.235+160G>C
c.359-1085G>C (n.359-1085G>C)
c.1096+1G>C (n.1096+1G>C)
c.1228+1G>C (n.1228+1G>C)
12g.55956948C>TCA385216428PMELc.1354+1G>A (n.1354+1G>A)
c.781+1G>A (n.781+1G>A)
c.890+1G>A
n.235+160G>A
c.359-1085G>A (n.359-1085G>A)
c.1096+1G>A (n.1096+1G>A)
c.1228+1G>A (n.1228+1G>A)
12g.55956949C>ACA385216429PMELc.1354G>T (p.Gly452Cys)
c.781G>T (p.Gly261Cys)
c.890G>T
n.235+159G>T
c.359-1086G>T (n.359-1086G>T)
c.1096G>T (p.Gly366Cys)
c.1228G>T (p.Gly410Cys)
12g.55956949C>GCA385216431PMELc.1354G>C (p.Gly452Arg)
c.781G>C (p.Gly261Arg)
c.890G>C
n.235+159G>C
c.359-1086G>C (n.359-1086G>C)
c.1096G>C (p.Gly366Arg)
c.1228G>C (p.Gly410Arg)
 COSMIC COSMIC
12g.55956949C>TCA385216433PMELc.1354G>A (p.Gly452Ser)
c.781G>A (p.Gly261Ser)
c.890G>A
n.235+159G>A
c.359-1086G>A (n.359-1086G>A)
c.1096G>A (p.Gly366Ser)
c.1228G>A (p.Gly410Ser)
12g.55956950T>ACA480364362PMELc.1353A>T (p.Thr451=)
c.780A>T (p.Thr260=)
c.889A>T
n.235+158A>T
c.359-1087A>T (n.359-1087A>T)
c.1095A>T (p.Thr365=)
c.1227A>T (p.Thr409=)
12g.55956950T>CCA480364368PMELc.1353A>G (p.Thr451=)
c.780A>G (p.Thr260=)
c.889A>G
n.235+158A>G
c.359-1087A>G (n.359-1087A>G)
c.1095A>G (p.Thr365=)
c.1227A>G (p.Thr409=)
12g.55956950T>GCA480364364PMELc.1353A>C (p.Thr451=)
c.780A>C (p.Thr260=)
c.889A>C
n.235+158A>C
c.359-1087A>C (n.359-1087A>C)
c.1095A>C (p.Thr365=)
c.1227A>C (p.Thr409=)
12g.55956951G>ACA385216434PMELc.1352C>T (p.Thr451Ile)
c.779C>T (p.Thr260Ile)
c.888C>T
n.235+157C>T
c.359-1088C>T (n.359-1088C>T)
c.1094C>T (p.Thr365Ile)
c.1226C>T (p.Thr409Ile)
 dbSNP gnomAD v2 gnomAD v4
12g.55956951G>CCA385216436PMELc.1352C>G (p.Thr451Arg)
c.779C>G (p.Thr260Arg)
c.888C>G
n.235+157C>G
c.359-1088C>G (n.359-1088C>G)
c.1094C>G (p.Thr365Arg)
c.1226C>G (p.Thr409Arg)
12g.55956951G=CA2038180854PMELc.1352C= (p.Thr451=)
c.779C= (p.Thr260=)
c.888C=
n.235+157C=
c.359-1088C= (n.359-1088C=)
c.1094C= (p.Thr365=)
c.1226C= (p.Thr409=)
12g.55956951G>TCA385216438PMELc.1352C>A (p.Thr451Lys)
c.779C>A (p.Thr260Lys)
c.888C>A
n.235+157C>A
c.359-1088C>A (n.359-1088C>A)
c.1094C>A (p.Thr365Lys)
c.1226C>A (p.Thr409Lys)
12g.55956952T>ACA385216440PMELc.1351A>T (p.Thr451Ser)
c.778A>T (p.Thr260Ser)
c.887A>T
n.235+156A>T
c.359-1089A>T (n.359-1089A>T)
c.1093A>T (p.Thr365Ser)
c.1225A>T (p.Thr409Ser)
12g.55956952T>CCA385216441PMELc.1351A>G (p.Thr451Ala)
c.778A>G (p.Thr260Ala)
c.887A>G
n.235+156A>G
c.359-1089A>G (n.359-1089A>G)
c.1093A>G (p.Thr365Ala)
c.1225A>G (p.Thr409Ala)
12g.55956952T>GCA385216443PMELc.1351A>C (p.Thr451Pro)
c.778A>C (p.Thr260Pro)
c.887A>C
n.235+156A>C
c.359-1089A>C (n.359-1089A>C)
c.1093A>C (p.Thr365Pro)
c.1225A>C (p.Thr409Pro)
12g.55956953A>CCA385216445PMELc.1350T>G (p.Ile450Met)
c.777T>G (p.Ile259Met)
c.886T>G
n.235+155T>G
c.359-1090T>G (n.359-1090T>G)
c.1092T>G (p.Ile364Met)
c.1224T>G (p.Ile408Met)
12g.55956953A>GCA480364371PMELc.1350T>C (p.Ile450=)
c.777T>C (p.Ile259=)
c.886T>C
n.235+155T>C
c.359-1090T>C (n.359-1090T>C)
c.1092T>C (p.Ile364=)
c.1224T>C (p.Ile408=)
 gnomAD v4
12g.55956953A>TCA480364372PMELc.1350T>A (p.Ile450=)
c.777T>A (p.Ile259=)
c.886T>A
n.235+155T>A
c.359-1090T>A (n.359-1090T>A)
c.1092T>A (p.Ile364=)
c.1224T>A (p.Ile408=)
12g.55956954A=CA2038180863PMELc.1349T= (p.Ile450=)
c.776T= (p.Ile259=)
c.885T=
n.235+154T=
c.359-1091T= (n.359-1091T=)
c.1091T= (p.Ile364=)
c.1223T= (p.Ile408=)
12g.55956954A>CCA385216447PMELc.1349T>G (p.Ile450Ser)
c.776T>G (p.Ile259Ser)
c.885T>G
n.235+154T>G
c.359-1091T>G (n.359-1091T>G)
c.1091T>G (p.Ile364Ser)
c.1223T>G (p.Ile408Ser)
12g.55956954A>GCA237590832PMELc.1349T>C (p.Ile450Thr)
c.776T>C (p.Ile259Thr)
c.885T>C
n.235+154T>C
c.359-1091T>C (n.359-1091T>C)
c.1091T>C (p.Ile364Thr)
c.1223T>C (p.Ile408Thr)
 dbSNP gnomAD v4
12g.55956954A>TCA385216446PMELc.1349T>A (p.Ile450Asn)
c.776T>A (p.Ile259Asn)
c.885T>A
n.235+154T>A
c.359-1091T>A (n.359-1091T>A)
c.1091T>A (p.Ile364Asn)
c.1223T>A (p.Ile408Asn)
12g.55956955T>ACA385216450PMELc.1348A>T (p.Ile450Phe)
c.775A>T (p.Ile259Phe)
c.884A>T
n.235+153A>T
c.359-1092A>T (n.359-1092A>T)
c.1090A>T (p.Ile364Phe)
c.1222A>T (p.Ile408Phe)
12g.55956955T>CCA385216449PMELc.1348A>G (p.Ile450Val)
c.775A>G (p.Ile259Val)
c.884A>G
n.235+153A>G
c.359-1092A>G (n.359-1092A>G)
c.1090A>G (p.Ile364Val)
c.1222A>G (p.Ile408Val)
12g.55956955T>GCA385216451PMELc.1348A>C (p.Ile450Leu)
c.775A>C (p.Ile259Leu)
c.884A>C
n.235+153A>C
c.359-1092A>C (n.359-1092A>C)
c.1090A>C (p.Ile364Leu)
c.1222A>C (p.Ile408Leu)
12g.55956956A=CA2038180866PMELc.1347T= (p.Ser449=)
c.774T= (p.Ser258=)
c.883T=
n.235+152T=
c.359-1093T= (n.359-1093T=)
c.1089T= (p.Ser363=)
c.1221T= (p.Ser407=)
12g.55956956A>CCA385216454PMELc.1347T>G (p.Ser449Arg)
c.774T>G (p.Ser258Arg)
c.883T>G
n.235+152T>G
c.359-1093T>G (n.359-1093T>G)
c.1089T>G (p.Ser363Arg)
c.1221T>G (p.Ser407Arg)
12g.55956956A>GCA6620026PMELc.1347T>C (p.Ser449=)
c.774T>C (p.Ser258=)
c.883T>C
n.235+152T>C
c.359-1093T>C (n.359-1093T>C)
c.1089T>C (p.Ser363=)
c.1221T>C (p.Ser407=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55956956A>TCA385216456PMELc.1347T>A (p.Ser449Arg)
c.774T>A (p.Ser258Arg)
c.883T>A
n.235+152T>A
c.359-1093T>A (n.359-1093T>A)
c.1089T>A (p.Ser363Arg)
c.1221T>A (p.Ser407Arg)
12g.55956957C>ACA385216457PMELc.1346G>T (p.Ser449Ile)
c.773G>T (p.Ser258Ile)
c.882G>T
n.235+151G>T
c.359-1094G>T (n.359-1094G>T)
c.1088G>T (p.Ser363Ile)
c.1220G>T (p.Ser407Ile)
12g.55956957C>GCA385216459PMELc.1346G>C (p.Ser449Thr)
c.773G>C (p.Ser258Thr)
c.882G>C
n.235+151G>C
c.359-1094G>C (n.359-1094G>C)
c.1088G>C (p.Ser363Thr)
c.1220G>C (p.Ser407Thr)
12g.55956957C>TCA385216461PMELc.1346G>A (p.Ser449Asn)
c.773G>A (p.Ser258Asn)
c.882G>A
n.235+151G>A
c.359-1094G>A (n.359-1094G>A)
c.1088G>A (p.Ser363Asn)
c.1220G>A (p.Ser407Asn)
 dbSNP gnomAD v4
12g.55956958T>ACA385216462PMELc.1345A>T (p.Ser449Cys)
c.772A>T (p.Ser258Cys)
c.881A>T
n.235+150A>T
c.359-1095A>T (n.359-1095A>T)
c.1087A>T (p.Ser363Cys)
c.1219A>T (p.Ser407Cys)
12g.55956958T>CCA385216464PMELc.1345A>G (p.Ser449Gly)
c.772A>G (p.Ser258Gly)
c.881A>G
n.235+150A>G
c.359-1095A>G (n.359-1095A>G)
c.1087A>G (p.Ser363Gly)
c.1219A>G (p.Ser407Gly)
 dbSNP
12g.55956958T>GCA385216466PMELc.1345A>C (p.Ser449Arg)
c.772A>C (p.Ser258Arg)
c.881A>C
n.235+150A>C
c.359-1095A>C (n.359-1095A>C)
c.1087A>C (p.Ser363Arg)
c.1219A>C (p.Ser407Arg)
12g.55956958T=CA2038180867PMELc.1345A= (p.Ser449=)
c.772A= (p.Ser258=)
c.881A=
n.235+150A=
c.359-1095A= (n.359-1095A=)
c.1087A= (p.Ser363=)
c.1219A= (p.Ser407=)
12g.55956959T>ACA385216468PMELc.1344A>T (p.Glu448Asp)
c.771A>T (p.Glu257Asp)
c.880A>T
n.235+149A>T
c.359-1096A>T (n.359-1096A>T)
c.1086A>T (p.Glu362Asp)
c.1218A>T (p.Glu406Asp)
12g.55956959T>CCA480364380PMELc.1344A>G (p.Glu448=)
c.771A>G (p.Glu257=)
c.880A>G
n.235+149A>G
c.359-1096A>G (n.359-1096A>G)
c.1086A>G (p.Glu362=)
c.1218A>G (p.Glu406=)
12g.55956959T>GCA385216469PMELc.1344A>C (p.Glu448Asp)
c.771A>C (p.Glu257Asp)
c.880A>C
n.235+149A>C
c.359-1096A>C (n.359-1096A>C)
c.1086A>C (p.Glu362Asp)
c.1218A>C (p.Glu406Asp)
12g.55956960T>ACA385216471PMELc.1343A>T (p.Glu448Val)
c.770A>T (p.Glu257Val)
c.879A>T
n.235+148A>T
c.359-1097A>T (n.359-1097A>T)
c.1085A>T (p.Glu362Val)
c.1217A>T (p.Glu406Val)
12g.55956960T>CCA385216474PMELc.1343A>G (p.Glu448Gly)
c.770A>G (p.Glu257Gly)
c.879A>G
n.235+148A>G
c.359-1097A>G (n.359-1097A>G)
c.1085A>G (p.Glu362Gly)
c.1217A>G (p.Glu406Gly)
12g.55956960T>GCA385216472PMELc.1343A>C (p.Glu448Ala)
c.770A>C (p.Glu257Ala)
c.879A>C
n.235+148A>C
c.359-1097A>C (n.359-1097A>C)
c.1085A>C (p.Glu362Ala)
c.1217A>C (p.Glu406Ala)
12g.55956961C>ACA385216475PMELc.1342G>T (p.Glu448Ter)
c.769G>T (p.Glu257Ter)
c.878G>T
n.235+147G>T
c.359-1098G>T (n.359-1098G>T)
c.1084G>T (p.Glu362Ter)
c.1216G>T (p.Glu406Ter)
12g.55956961C>GCA385216476PMELc.1342G>C (p.Glu448Gln)
c.769G>C (p.Glu257Gln)
c.878G>C
n.235+147G>C
c.359-1098G>C (n.359-1098G>C)
c.1084G>C (p.Glu362Gln)
c.1216G>C (p.Glu406Gln)
12g.55956961C>TCA385216478PMELc.1342G>A (p.Glu448Lys)
c.769G>A (p.Glu257Lys)
c.878G>A
n.235+147G>A
c.359-1098G>A (n.359-1098G>A)
c.1084G>A (p.Glu362Lys)
c.1216G>A (p.Glu406Lys)
12g.55956962C>ACA480364398PMELc.1341G>T (p.Thr447=)
c.768G>T (p.Thr256=)
c.877G>T
n.235+146G>T
c.359-1099G>T (n.359-1099G>T)
c.1083G>T (p.Thr361=)
c.1215G>T (p.Thr405=)
12g.55956962C=CA2038180870PMELc.1341G= (p.Thr447=)
c.768G= (p.Thr256=)
c.877G=
n.235+146G=
c.359-1099G= (n.359-1099G=)
c.1083G= (p.Thr361=)
c.1215G= (p.Thr405=)
12g.55956962C>GCA480364399PMELc.1341G>C (p.Thr447=)
c.768G>C (p.Thr256=)
c.877G>C
n.235+146G>C
c.359-1099G>C (n.359-1099G>C)
c.1083G>C (p.Thr361=)
c.1215G>C (p.Thr405=)
12g.55956962C>TCA6620027PMELc.1341G>A (p.Thr447=)
c.768G>A (p.Thr256=)
c.877G>A
n.235+146G>A
c.359-1099G>A (n.359-1099G>A)
c.1083G>A (p.Thr361=)
c.1215G>A (p.Thr405=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12g.55956963G>ACA6620028PMELc.1340C>T (p.Thr447Met)
c.767C>T (p.Thr256Met)
c.876C>T
n.235+145C>T
c.359-1100C>T (n.359-1100C>T)
c.1082C>T (p.Thr361Met)
c.1214C>T (p.Thr405Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55956963G>CCA385216485PMELc.1340C>G (p.Thr447Arg)
c.767C>G (p.Thr256Arg)
c.876C>G
n.235+145C>G
c.359-1100C>G (n.359-1100C>G)
c.1082C>G (p.Thr361Arg)
c.1214C>G (p.Thr405Arg)
12g.55956963G=CA2038180873PMELc.1340C= (p.Thr447=)
c.767C= (p.Thr256=)
c.876C=
n.235+145C=
c.359-1100C= (n.359-1100C=)
c.1082C= (p.Thr361=)
c.1214C= (p.Thr405=)
12g.55956963G>TCA385216483PMELc.1340C>A (p.Thr447Lys)
c.767C>A (p.Thr256Lys)
c.876C>A
n.235+145C>A
c.359-1100C>A (n.359-1100C>A)
c.1082C>A (p.Thr361Lys)
c.1214C>A (p.Thr405Lys)
12g.55956964T>ACA385216487PMELc.1339A>T (p.Thr447Ser)
c.766A>T (p.Thr256Ser)
c.875A>T
n.235+144A>T
c.359-1101A>T (n.359-1101A>T)
c.1081A>T (p.Thr361Ser)
c.1213A>T (p.Thr405Ser)
12g.55956964T>CCA385216488PMELc.1339A>G (p.Thr447Ala)
c.766A>G (p.Thr256Ala)
c.875A>G
n.235+144A>G
c.359-1101A>G (n.359-1101A>G)
c.1081A>G (p.Thr361Ala)
c.1213A>G (p.Thr405Ala)
12g.55956964T>GCA385216489PMELc.1339A>C (p.Thr447Pro)
c.766A>C (p.Thr256Pro)
c.875A>C
n.235+144A>C
c.359-1101A>C (n.359-1101A>C)
c.1081A>C (p.Thr361Pro)
c.1213A>C (p.Thr405Pro)
12g.55956965A>CCA480364409PMELc.1338T>G (p.Ser446=)
c.765T>G (p.Ser255=)
c.874T>G
n.235+143T>G
c.359-1102T>G (n.359-1102T>G)
c.1080T>G (p.Ser360=)
c.1212T>G (p.Ser404=)
12g.55956965A>GCA480364410PMELc.1338T>C (p.Ser446=)
c.765T>C (p.Ser255=)
c.874T>C
n.235+143T>C
c.359-1102T>C (n.359-1102T>C)
c.1080T>C (p.Ser360=)
c.1212T>C (p.Ser404=)
12g.55956965A>TCA480364408PMELc.1338T>A (p.Ser446=)
c.765T>A (p.Ser255=)
c.874T>A
n.235+143T>A
c.359-1102T>A (n.359-1102T>A)
c.1080T>A (p.Ser360=)
c.1212T>A (p.Ser404=)
12g.55956966_55956967delCA2619240857PMELc.1337_1338del (p.Ser446TyrfsTer?)
c.764_765del (p.Ser255TyrfsTer?)
c.873_874del
n.235+142_235+143del
c.359-1103_359-1102del (n.359-1103_359-1102del)
c.1079_1080del (p.Ser360TyrfsTer?)
c.1211_1212del (p.Ser404TyrfsTer?)
 gnomAD v4
12g.55956966G>ACA385216491PMELc.1337C>T (p.Ser446Phe)
c.764C>T (p.Ser255Phe)
c.873C>T
n.235+142C>T
c.359-1103C>T (n.359-1103C>T)
c.1079C>T (p.Ser360Phe)
c.1211C>T (p.Ser404Phe)
12g.55956966G>CCA385216493PMELc.1337C>G (p.Ser446Cys)
c.764C>G (p.Ser255Cys)
c.873C>G
n.235+142C>G
c.359-1103C>G (n.359-1103C>G)
c.1079C>G (p.Ser360Cys)
c.1211C>G (p.Ser404Cys)
12g.55956966G>TCA385216494PMELc.1337C>A (p.Ser446Tyr)
c.764C>A (p.Ser255Tyr)
c.873C>A
n.235+142C>A
c.359-1103C>A (n.359-1103C>A)
c.1079C>A (p.Ser360Tyr)
c.1211C>A (p.Ser404Tyr)
12g.55956967delCA645575822PMELc.1336del (p.Ser446LeufsTer19)
c.763del (p.Ser255LeufsTer19)
c.872del
n.235+141del
c.359-1104del (n.359-1104del)
c.1078del (p.Ser360LeufsTer19)
c.1210del (p.Ser404LeufsTer19)
 COSMIC COSMIC
12g.55956967A>CCA385216496PMELc.1336T>G (p.Ser446Ala)
c.763T>G (p.Ser255Ala)
c.872T>G
n.235+141T>G
c.359-1104T>G (n.359-1104T>G)
c.1078T>G (p.Ser360Ala)
c.1210T>G (p.Ser404Ala)
12g.55956967A>GCA385216498PMELc.1336T>C (p.Ser446Pro)
c.763T>C (p.Ser255Pro)
c.872T>C
n.235+141T>C
c.359-1104T>C (n.359-1104T>C)
c.1078T>C (p.Ser360Pro)
c.1210T>C (p.Ser404Pro)
12g.55956967A>TCA385216500PMELc.1336T>A (p.Ser446Thr)
c.763T>A (p.Ser255Thr)
c.872T>A
n.235+141T>A
c.359-1104T>A (n.359-1104T>A)
c.1078T>A (p.Ser360Thr)
c.1210T>A (p.Ser404Thr)
12g.55956968C>ACA385216502PMELc.1335G>T (p.Met445Ile)
c.762G>T (p.Met254Ile)
c.871G>T
n.235+140G>T
c.359-1105G>T (n.359-1105G>T)
c.1077G>T (p.Met359Ile)
c.1209G>T (p.Met403Ile)
12g.55956968C=CA2038180880PMELc.1335G= (p.Met445=)
c.762G= (p.Met254=)
c.871G=
n.235+140G=
c.359-1105G= (n.359-1105G=)
c.1077G= (p.Met359=)
c.1209G= (p.Met403=)
12g.55956968C>GCA385216504PMELc.1335G>C (p.Met445Ile)
c.762G>C (p.Met254Ile)
c.871G>C
n.235+140G>C
c.359-1105G>C (n.359-1105G>C)
c.1077G>C (p.Met359Ile)
c.1209G>C (p.Met403Ile)
12g.55956968C>TCA385216505PMELc.1335G>A (p.Met445Ile)
c.762G>A (p.Met254Ile)
c.871G>A
n.235+140G>A
c.359-1105G>A (n.359-1105G>A)
c.1077G>A (p.Met359Ile)
c.1209G>A (p.Met403Ile)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55956969A=CA2038180886PMELc.1334T= (p.Met445=)
c.761T= (p.Met254=)
c.870T=
n.235+139T=
c.359-1106T= (n.359-1106T=)
c.1076T= (p.Met359=)
c.1208T= (p.Met403=)
12g.55956969A>CCA385216514PMELc.1334T>G (p.Met445Arg)
c.761T>G (p.Met254Arg)
c.870T>G
n.235+139T>G
c.359-1106T>G (n.359-1106T>G)
c.1076T>G (p.Met359Arg)
c.1208T>G (p.Met403Arg)
12g.55956969A>GCA385216506PMELc.1334T>C (p.Met445Thr)
c.761T>C (p.Met254Thr)
c.870T>C
n.235+139T>C
c.359-1106T>C (n.359-1106T>C)
c.1076T>C (p.Met359Thr)
c.1208T>C (p.Met403Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55956969A>TCA385216512PMELc.1334T>A (p.Met445Lys)
c.761T>A (p.Met254Lys)
c.870T>A
n.235+139T>A
c.359-1106T>A (n.359-1106T>A)
c.1076T>A (p.Met359Lys)
c.1208T>A (p.Met403Lys)
12g.55956970T>ACA385216516PMELc.1333A>T (p.Met445Leu)
c.760A>T (p.Met254Leu)
c.869A>T
n.235+138A>T
c.359-1107A>T (n.359-1107A>T)
c.1075A>T (p.Met359Leu)
c.1207A>T (p.Met403Leu)
 COSMIC COSMIC
12g.55956970T>CCA385216518PMELc.1333A>G (p.Met445Val)
c.760A>G (p.Met254Val)
c.869A>G
n.235+138A>G
c.359-1107A>G (n.359-1107A>G)
c.1075A>G (p.Met359Val)
c.1207A>G (p.Met403Val)
12g.55956970T>GCA385216521PMELc.1333A>C (p.Met445Leu)
c.760A>C (p.Met254Leu)
c.869A>C
n.235+138A>C
c.359-1107A>C (n.359-1107A>C)
c.1075A>C (p.Met359Leu)
c.1207A>C (p.Met403Leu)
12g.55956971G>ACA480364418PMELc.1332C>T (p.Ile444=)
c.759C>T (p.Ile253=)
c.868C>T
n.235+137C>T
c.359-1108C>T (n.359-1108C>T)
c.1074C>T (p.Ile358=)
c.1206C>T (p.Ile402=)
12g.55956971G>CCA385216524PMELc.1332C>G (p.Ile444Met)
c.759C>G (p.Ile253Met)
c.868C>G
n.235+137C>G
c.359-1108C>G (n.359-1108C>G)
c.1074C>G (p.Ile358Met)
c.1206C>G (p.Ile402Met)
12g.55956971G>TCA480364422PMELc.1332C>A (p.Ile444=)
c.759C>A (p.Ile253=)
c.868C>A
n.235+137C>A
c.359-1108C>A (n.359-1108C>A)
c.1074C>A (p.Ile358=)
c.1206C>A (p.Ile402=)
12g.55956972A>CCA385216525PMELc.1331T>G (p.Ile444Ser)
c.758T>G (p.Ile253Ser)
c.867T>G
n.235+136T>G
c.359-1109T>G (n.359-1109T>G)
c.1073T>G (p.Ile358Ser)
c.1205T>G (p.Ile402Ser)
12g.55956972A>GCA385216527PMELc.1331T>C (p.Ile444Thr)
c.758T>C (p.Ile253Thr)
c.867T>C
n.235+136T>C
c.359-1109T>C (n.359-1109T>C)
c.1073T>C (p.Ile358Thr)
c.1205T>C (p.Ile402Thr)
12g.55956972A>TCA385216528PMELc.1331T>A (p.Ile444Asn)
c.758T>A (p.Ile253Asn)
c.867T>A
n.235+136T>A
c.359-1109T>A (n.359-1109T>A)
c.1073T>A (p.Ile358Asn)
c.1205T>A (p.Ile402Asn)
12g.55956973T>ACA385216529PMELc.1330A>T (p.Ile444Phe)
c.757A>T (p.Ile253Phe)
c.866A>T
n.235+135A>T
c.359-1110A>T (n.359-1110A>T)
c.1072A>T (p.Ile358Phe)
c.1204A>T (p.Ile402Phe)
12g.55956973T>CCA6620029PMELc.1330A>G (p.Ile444Val)
c.757A>G (p.Ile253Val)
c.866A>G
n.235+135A>G
c.359-1110A>G (n.359-1110A>G)
c.1072A>G (p.Ile358Val)
c.1204A>G (p.Ile402Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55956973T>GCA385216530PMELc.1330A>C (p.Ile444Leu)
c.757A>C (p.Ile253Leu)
c.866A>C
n.235+135A>C
c.359-1110A>C (n.359-1110A>C)
c.1072A>C (p.Ile358Leu)
c.1204A>C (p.Ile402Leu)
12g.55956973T=CA2038180892PMELc.1330A= (p.Ile444=)
c.757A= (p.Ile253=)
c.866A=
n.235+135A=
c.359-1110A= (n.359-1110A=)
c.1072A= (p.Ile358=)
c.1204A= (p.Ile402=)
12g.55956974T>ACA480364431PMELc.1329A>T (p.Ser443=)
c.756A>T (p.Ser252=)
c.865A>T
n.235+134A>T
c.359-1111A>T (n.359-1111A>T)
c.1071A>T (p.Ser357=)
c.1203A>T (p.Ser401=)
12g.55956974T>CCA480364432PMELc.1329A>G (p.Ser443=)
c.756A>G (p.Ser252=)
c.865A>G
n.235+134A>G
c.359-1111A>G (n.359-1111A>G)
c.1071A>G (p.Ser357=)
c.1203A>G (p.Ser401=)
12g.55956974T>GCA480364433PMELc.1329A>C (p.Ser443=)
c.756A>C (p.Ser252=)
c.865A>C
n.235+134A>C
c.359-1111A>C (n.359-1111A>C)
c.1071A>C (p.Ser357=)
c.1203A>C (p.Ser401=)
 gnomAD v4
12g.55956975G>ACA385216532PMELc.1328C>T (p.Ser443Leu)
c.755C>T (p.Ser252Leu)
c.864C>T
n.235+133C>T
c.359-1112C>T (n.359-1112C>T)
c.1070C>T (p.Ser357Leu)
c.1202C>T (p.Ser401Leu)
12g.55956975G>CCA385216533PMELc.1328C>G (p.Ser443Ter)
c.755C>G (p.Ser252Ter)
c.864C>G
n.235+133C>G
c.359-1112C>G (n.359-1112C>G)
c.1070C>G (p.Ser357Ter)
c.1202C>G (p.Ser401Ter)
12g.55956975G>TCA385216534PMELc.1328C>A (p.Ser443Ter)
c.755C>A (p.Ser252Ter)
c.864C>A
n.235+133C>A
c.359-1112C>A (n.359-1112C>A)
c.1070C>A (p.Ser357Ter)
c.1202C>A (p.Ser401Ter)
12g.55956976A>CCA385216538PMELc.1327T>G (p.Ser443Ala)
c.754T>G (p.Ser252Ala)
c.863T>G
n.235+132T>G
c.359-1113T>G (n.359-1113T>G)
c.1069T>G (p.Ser357Ala)
c.1201T>G (p.Ser401Ala)
12g.55956976A>GCA385216536PMELc.1327T>C (p.Ser443Pro)
c.754T>C (p.Ser252Pro)
c.863T>C
n.235+132T>C
c.359-1113T>C (n.359-1113T>C)
c.1069T>C (p.Ser357Pro)
c.1201T>C (p.Ser401Pro)
 gnomAD v4
12g.55956976A>TCA385216537PMELc.1327T>A (p.Ser443Thr)
c.754T>A (p.Ser252Thr)
c.863T>A
n.235+132T>A
c.359-1113T>A (n.359-1113T>A)
c.1069T>A (p.Ser357Thr)
c.1201T>A (p.Ser401Thr)
12g.55956977G>ACA480364656PMELc.1326C>T (p.Ser442=)
c.753C>T (p.Ser251=)
c.862C>T
n.235+131C>T
c.359-1114C>T (n.359-1114C>T)
c.1068C>T (p.Ser356=)
c.1200C>T (p.Ser400=)
12g.55956977G>CCA6620030PMELc.1326C>G (p.Ser442Arg)
c.753C>G (p.Ser251Arg)
c.862C>G
n.235+131C>G
c.359-1114C>G (n.359-1114C>G)
c.1068C>G (p.Ser356Arg)
c.1200C>G (p.Ser400Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55956977G=CA2038180898PMELc.1326C= (p.Ser442=)
c.753C= (p.Ser251=)
c.862C=
n.235+131C=
c.359-1114C= (n.359-1114C=)
c.1068C= (p.Ser356=)
c.1200C= (p.Ser400=)
12g.55956977G>TCA385216541PMELc.1326C>A (p.Ser442Arg)
c.753C>A (p.Ser251Arg)
c.862C>A
n.235+131C>A
c.359-1114C>A (n.359-1114C>A)
c.1068C>A (p.Ser356Arg)
c.1200C>A (p.Ser400Arg)
12g.55956978C>ACA385216543PMELc.1325G>T (p.Ser442Ile)
c.752G>T (p.Ser251Ile)
c.861G>T
n.235+130G>T
c.359-1115G>T (n.359-1115G>T)
c.1067G>T (p.Ser356Ile)
c.1199G>T (p.Ser400Ile)
12g.55956978C=CA2038180902PMELc.1325G= (p.Ser442=)
c.752G= (p.Ser251=)
c.861G=
n.235+130G=
c.359-1115G= (n.359-1115G=)
c.1067G= (p.Ser356=)
c.1199G= (p.Ser400=)
12g.55956978C>GCA385216545PMELc.1325G>C (p.Ser442Thr)
c.752G>C (p.Ser251Thr)
c.861G>C
n.235+130G>C
c.359-1115G>C (n.359-1115G>C)
c.1067G>C (p.Ser356Thr)
c.1199G>C (p.Ser400Thr)
12g.55956978C>TCA385216547PMELc.1325G>A (p.Ser442Asn)
c.752G>A (p.Ser251Asn)
c.861G>A
n.235+130G>A
c.359-1115G>A (n.359-1115G>A)
c.1067G>A (p.Ser356Asn)
c.1199G>A (p.Ser400Asn)
 dbSNP gnomAD v4
12g.55956979T>ACA6620031PMELc.1324A>T (p.Ser442Cys)
c.751A>T (p.Ser251Cys)
c.860A>T
n.235+129A>T
c.359-1116A>T (n.359-1116A>T)
c.1066A>T (p.Ser356Cys)
c.1198A>T (p.Ser400Cys)
 dbSNP ExAC gnomAD v3 gnomAD v4
12g.55956979T>CCA385216549PMELc.1324A>G (p.Ser442Gly)
c.751A>G (p.Ser251Gly)
c.860A>G
n.235+129A>G
c.359-1116A>G (n.359-1116A>G)
c.1066A>G (p.Ser356Gly)
c.1198A>G (p.Ser400Gly)
 gnomAD v4
12g.55956979T>GCA385216550PMELc.1324A>C (p.Ser442Arg)
c.751A>C (p.Ser251Arg)
c.860A>C
n.235+129A>C
c.359-1116A>C (n.359-1116A>C)
c.1066A>C (p.Ser356Arg)
c.1198A>C (p.Ser400Arg)
12g.55956979T=CA2038180905PMELc.1324A= (p.Ser442=)
c.751A= (p.Ser251=)
c.860A=
n.235+129A=
c.359-1116A= (n.359-1116A=)
c.1066A= (p.Ser356=)
c.1198A= (p.Ser400=)
12g.55956980G>ACA6620032PMELc.1323C>T (p.Ala441=)
c.750C>T (p.Ala250=)
c.859C>T
n.235+128C>T
c.359-1117C>T (n.359-1117C>T)
c.1065C>T (p.Ala355=)
c.1197C>T (p.Ala399=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55956980G>CCA480364659PMELc.1323C>G (p.Ala441=)
c.750C>G (p.Ala250=)
c.859C>G
n.235+128C>G
c.359-1117C>G (n.359-1117C>G)
c.1065C>G (p.Ala355=)
c.1197C>G (p.Ala399=)
12g.55956980G=CA2038180909PMELc.1323C= (p.Ala441=)
c.750C= (p.Ala250=)
c.859C=
n.235+128C=
c.359-1117C= (n.359-1117C=)
c.1065C= (p.Ala355=)
c.1197C= (p.Ala399=)
12g.55956980G>TCA480364658PMELc.1323C>A (p.Ala441=)
c.750C>A (p.Ala250=)
c.859C>A
n.235+128C>A
c.359-1117C>A (n.359-1117C>A)
c.1065C>A (p.Ala355=)
c.1197C>A (p.Ala399=)
12g.55956981G>ACA385216553PMELc.1322C>T (p.Ala441Val)
c.749C>T (p.Ala250Val)
c.858C>T
n.235+127C>T
c.359-1118C>T (n.359-1118C>T)
c.1064C>T (p.Ala355Val)
c.1196C>T (p.Ala399Val)
 dbSNP
12g.55956981G>CCA385216555PMELc.1322C>G (p.Ala441Gly)
c.749C>G (p.Ala250Gly)
c.858C>G
n.235+127C>G
c.359-1118C>G (n.359-1118C>G)
c.1064C>G (p.Ala355Gly)
c.1196C>G (p.Ala399Gly)
 gnomAD v4
12g.55956981G=CA2038180918PMELc.1322C= (p.Ala441=)
c.749C= (p.Ala250=)
c.858C=
n.235+127C=
c.359-1118C= (n.359-1118C=)
c.1064C= (p.Ala355=)
c.1196C= (p.Ala399=)
12g.55956981G>TCA385216557PMELc.1322C>A (p.Ala441Asp)
c.749C>A (p.Ala250Asp)
c.858C>A
n.235+127C>A
c.359-1118C>A (n.359-1118C>A)
c.1064C>A (p.Ala355Asp)
c.1196C>A (p.Ala399Asp)
12g.55956982C>ACA385216559PMELc.1321G>T (p.Ala441Ser)
c.748G>T (p.Ala250Ser)
c.857G>T
n.235+126G>T
c.359-1119G>T (n.359-1119G>T)
c.1063G>T (p.Ala355Ser)
c.1195G>T (p.Ala399Ser)
12g.55956982C>GCA385216562PMELc.1321G>C (p.Ala441Pro)
c.748G>C (p.Ala250Pro)
c.857G>C
n.235+126G>C
c.359-1119G>C (n.359-1119G>C)
c.1063G>C (p.Ala355Pro)
c.1195G>C (p.Ala399Pro)
12g.55956982C>TCA385216560PMELc.1321G>A (p.Ala441Thr)
c.748G>A (p.Ala250Thr)
c.857G>A
n.235+126G>A
c.359-1119G>A (n.359-1119G>A)
c.1063G>A (p.Ala355Thr)
c.1195G>A (p.Ala399Thr)
12g.55956983A>CCA385216563PMELc.1320T>G (p.Asp440Glu)
c.747T>G (p.Asp249Glu)
c.856T>G
n.235+125T>G
c.359-1120T>G (n.359-1120T>G)
c.1062T>G (p.Asp354Glu)
c.1194T>G (p.Asp398Glu)
12g.55956983A>GCA480364660PMELc.1320T>C (p.Asp440=)
c.747T>C (p.Asp249=)
c.856T>C
n.235+125T>C
c.359-1120T>C (n.359-1120T>C)
c.1062T>C (p.Asp354=)
c.1194T>C (p.Asp398=)
12g.55956983A>TCA385216564PMELc.1320T>A (p.Asp440Glu)
c.747T>A (p.Asp249Glu)
c.856T>A
n.235+125T>A
c.359-1120T>A (n.359-1120T>A)
c.1062T>A (p.Asp354Glu)
c.1194T>A (p.Asp398Glu)
12g.55956984T>ACA385216566PMELc.1319A>T (p.Asp440Val)
c.746A>T (p.Asp249Val)
c.855A>T
n.235+124A>T
c.359-1121A>T (n.359-1121A>T)
c.1061A>T (p.Asp354Val)
c.1193A>T (p.Asp398Val)
12g.55956984T>CCA237590839PMELc.1319A>G (p.Asp440Gly)
c.746A>G (p.Asp249Gly)
c.855A>G
n.235+124A>G
c.359-1121A>G (n.359-1121A>G)
c.1061A>G (p.Asp354Gly)
c.1193A>G (p.Asp398Gly)
 dbSNP
12g.55956984T>GCA385216567PMELc.1319A>C (p.Asp440Ala)
c.746A>C (p.Asp249Ala)
c.855A>C
n.235+124A>C
c.359-1121A>C (n.359-1121A>C)
c.1061A>C (p.Asp354Ala)
c.1193A>C (p.Asp398Ala)
12g.55956984T=CA2038180924PMELc.1319A= (p.Asp440=)
c.746A= (p.Asp249=)
c.855A=
n.235+124A=
c.359-1121A= (n.359-1121A=)
c.1061A= (p.Asp354=)
c.1193A= (p.Asp398=)
12g.55956985C>ACA385216569PMELc.1318G>T (p.Asp440Tyr)
c.745G>T (p.Asp249Tyr)
c.854G>T
n.235+123G>T
c.359-1122G>T (n.359-1122G>T)
c.1060G>T (p.Asp354Tyr)
c.1192G>T (p.Asp398Tyr)
12g.55956985C>GCA385216570PMELc.1318G>C (p.Asp440His)
c.745G>C (p.Asp249His)
c.854G>C
n.235+123G>C
c.359-1122G>C (n.359-1122G>C)
c.1060G>C (p.Asp354His)
c.1192G>C (p.Asp398His)
12g.55956985C>TCA385216571PMELc.1318G>A (p.Asp440Asn)
c.745G>A (p.Asp249Asn)
c.854G>A
n.235+123G>A
c.359-1122G>A (n.359-1122G>A)
c.1060G>A (p.Asp354Asn)
c.1192G>A (p.Asp398Asn)
12g.55956986T>ACA480364664PMELc.1317A>T (p.Pro439=)
c.744A>T (p.Pro248=)
c.853A>T
n.235+122A>T
c.359-1123A>T (n.359-1123A>T)
c.1059A>T (p.Pro353=)
c.1191A>T (p.Pro397=)
12g.55956986T>CCA480364665PMELc.1317A>G (p.Pro439=)
c.744A>G (p.Pro248=)
c.853A>G
n.235+122A>G
c.359-1123A>G (n.359-1123A>G)
c.1059A>G (p.Pro353=)
c.1191A>G (p.Pro397=)
12g.55956986T>GCA480364666PMELc.1317A>C (p.Pro439=)
c.744A>C (p.Pro248=)
c.853A>C
n.235+122A>C
c.359-1123A>C (n.359-1123A>C)
c.1059A>C (p.Pro353=)
c.1191A>C (p.Pro397=)
12g.55956987G>ACA385216572PMELc.1316C>T (p.Pro439Leu)
c.743C>T (p.Pro248Leu)
c.852C>T
n.235+121C>T
c.359-1124C>T (n.359-1124C>T)
c.1058C>T (p.Pro353Leu)
c.1190C>T (p.Pro397Leu)
12g.55956987G>CCA385216575PMELc.1316C>G (p.Pro439Arg)
c.743C>G (p.Pro248Arg)
c.852C>G
n.235+121C>G
c.359-1124C>G (n.359-1124C>G)
c.1058C>G (p.Pro353Arg)
c.1190C>G (p.Pro397Arg)
12g.55956987G>TCA385216573PMELc.1316C>A (p.Pro439Gln)
c.743C>A (p.Pro248Gln)
c.852C>A
n.235+121C>A
c.359-1124C>A (n.359-1124C>A)
c.1058C>A (p.Pro353Gln)
c.1190C>A (p.Pro397Gln)
12g.55956988G>ACA6620033PMELc.1315C>T (p.Pro439Ser)
c.742C>T (p.Pro248Ser)
c.851C>T
n.235+120C>T
c.359-1125C>T (n.359-1125C>T)
c.1057C>T (p.Pro353Ser)
c.1189C>T (p.Pro397Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55956988G>CCA385216576PMELc.1315C>G (p.Pro439Ala)
c.742C>G (p.Pro248Ala)
c.851C>G
n.235+120C>G
c.359-1125C>G (n.359-1125C>G)
c.1057C>G (p.Pro353Ala)
c.1189C>G (p.Pro397Ala)
12g.55956988G=CA2038180927PMELc.1315C= (p.Pro439=)
c.742C= (p.Pro248=)
c.851C=
n.235+120C=
c.359-1125C= (n.359-1125C=)
c.1057C= (p.Pro353=)
c.1189C= (p.Pro397=)
12g.55956988G>TCA385216577PMELc.1315C>A (p.Pro439Thr)
c.742C>A (p.Pro248Thr)
c.851C>A
n.235+120C>A
c.359-1125C>A (n.359-1125C>A)
c.1057C>A (p.Pro353Thr)
c.1189C>A (p.Pro397Thr)
12g.55956989A=CA2038180930PMELc.1314T= (p.Gly438=)
c.741T= (p.Gly247=)
c.850T=
n.235+119T=
c.359-1126T= (n.359-1126T=)
c.1056T= (p.Gly352=)
c.1188T= (p.Gly396=)
12g.55956989A>CCA480364667PMELc.1314T>G (p.Gly438=)
c.741T>G (p.Gly247=)
c.850T>G
n.235+119T>G
c.359-1126T>G (n.359-1126T>G)
c.1056T>G (p.Gly352=)
c.1188T>G (p.Gly396=)
12g.55956989A>GCA6620034PMELc.1314T>C (p.Gly438=)
c.741T>C (p.Gly247=)
c.850T>C
n.235+119T>C
c.359-1126T>C (n.359-1126T>C)
c.1056T>C (p.Gly352=)
c.1188T>C (p.Gly396=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55956989A>TCA480364669PMELc.1314T>A (p.Gly438=)
c.741T>A (p.Gly247=)
c.850T>A
n.235+119T>A
c.359-1126T>A (n.359-1126T>A)
c.1056T>A (p.Gly352=)
c.1188T>A (p.Gly396=)
12g.55956990C>ACA385216580PMELc.1313G>T (p.Gly438Val)
c.740G>T (p.Gly247Val)
c.849G>T
n.235+118G>T
c.359-1127G>T (n.359-1127G>T)
c.1055G>T (p.Gly352Val)
c.1187G>T (p.Gly396Val)
12g.55956990C=CA2038180934PMELc.1313G= (p.Gly438=)
c.740G= (p.Gly247=)
c.849G=
n.235+118G=
c.359-1127G= (n.359-1127G=)
c.1055G= (p.Gly352=)
c.1187G= (p.Gly396=)
12g.55956990C>GCA385216582PMELc.1313G>C (p.Gly438Ala)
c.740G>C (p.Gly247Ala)
c.849G>C
n.235+118G>C
c.359-1127G>C (n.359-1127G>C)
c.1055G>C (p.Gly352Ala)
c.1187G>C (p.Gly396Ala)
12g.55956990C>TCA6620035PMELc.1313G>A (p.Gly438Asp)
c.740G>A (p.Gly247Asp)
c.849G>A
n.235+118G>A
c.359-1127G>A (n.359-1127G>A)
c.1055G>A (p.Gly352Asp)
c.1187G>A (p.Gly396Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55956991C>ACA385216583PMELc.1312G>T (p.Gly438Cys)
c.739G>T (p.Gly247Cys)
c.848G>T
n.235+117G>T
c.359-1128G>T (n.359-1128G>T)
c.1054G>T (p.Gly352Cys)
c.1186G>T (p.Gly396Cys)
12g.55956991C=CA2038180938PMELc.1312G= (p.Gly438=)
c.739G= (p.Gly247=)
c.848G=
n.235+117G=
c.359-1128G= (n.359-1128G=)
c.1054G= (p.Gly352=)
c.1186G= (p.Gly396=)
12g.55956991C>GCA385216584PMELc.1312G>C (p.Gly438Arg)
c.739G>C (p.Gly247Arg)
c.848G>C
n.235+117G>C
c.359-1128G>C (n.359-1128G>C)
c.1054G>C (p.Gly352Arg)
c.1186G>C (p.Gly396Arg)
12g.55956991C>TCA385216586PMELc.1312G>A (p.Gly438Ser)
c.739G>A (p.Gly247Ser)
c.848G>A
n.235+117G>A
c.359-1128G>A (n.359-1128G>A)
c.1054G>A (p.Gly352Ser)
c.1186G>A (p.Gly396Ser)
 dbSNP
12g.55956992T>ACA385216588PMELc.1311A>T (p.Glu437Asp)
c.738A>T (p.Glu246Asp)
c.847A>T
n.235+116A>T
c.359-1129A>T (n.359-1129A>T)
c.1053A>T (p.Glu351Asp)
c.1185A>T (p.Glu395Asp)
12g.55956992T>CCA480364671PMELc.1311A>G (p.Glu437=)
c.738A>G (p.Glu246=)
c.847A>G
n.235+116A>G
c.359-1129A>G (n.359-1129A>G)
c.1053A>G (p.Glu351=)
c.1185A>G (p.Glu395=)
12g.55956992T>GCA385216590PMELc.1311A>C (p.Glu437Asp)
c.738A>C (p.Glu246Asp)
c.847A>C
n.235+116A>C
c.359-1129A>C (n.359-1129A>C)
c.1053A>C (p.Glu351Asp)
c.1185A>C (p.Glu395Asp)
12g.55956993T>ACA385216591PMELc.1310A>T (p.Glu437Val)
c.737A>T (p.Glu246Val)
c.846A>T
n.235+115A>T
c.359-1130A>T (n.359-1130A>T)
c.1052A>T (p.Glu351Val)
c.1184A>T (p.Glu395Val)
12g.55956993T>CCA385216593PMELc.1310A>G (p.Glu437Gly)
c.737A>G (p.Glu246Gly)
c.846A>G
n.235+115A>G
c.359-1130A>G (n.359-1130A>G)
c.1052A>G (p.Glu351Gly)
c.1184A>G (p.Glu395Gly)
12g.55956993T>GCA385216594PMELc.1310A>C (p.Glu437Ala)
c.737A>C (p.Glu246Ala)
c.846A>C
n.235+115A>C
c.359-1130A>C (n.359-1130A>C)
c.1052A>C (p.Glu351Ala)
c.1184A>C (p.Glu395Ala)
12g.55956994C>ACA385216596PMELc.1309G>T (p.Glu437Ter)
c.736G>T (p.Glu246Ter)
c.845G>T
n.235+114G>T
c.359-1131G>T (n.359-1131G>T)
c.1051G>T (p.Glu351Ter)
c.1183G>T (p.Glu395Ter)
12g.55956994C>GCA385216598PMELc.1309G>C (p.Glu437Gln)
c.736G>C (p.Glu246Gln)
c.845G>C
n.235+114G>C
c.359-1131G>C (n.359-1131G>C)
c.1051G>C (p.Glu351Gln)
c.1183G>C (p.Glu395Gln)
12g.55956994C>TCA385216600PMELc.1309G>A (p.Glu437Lys)
c.736G>A (p.Glu246Lys)
c.845G>A
n.235+114G>A
c.359-1131G>A (n.359-1131G>A)
c.1051G>A (p.Glu351Lys)
c.1183G>A (p.Glu395Lys)
12g.55956995A>CCA480364675PMELc.1308T>G (p.Pro436=)
c.735T>G (p.Pro245=)
c.844T>G
n.235+113T>G
c.359-1132T>G (n.359-1132T>G)
c.1050T>G (p.Pro350=)
c.1182T>G (p.Pro394=)
12g.55956995A>GCA480364676PMELc.1308T>C (p.Pro436=)
c.735T>C (p.Pro245=)
c.844T>C
n.235+113T>C
c.359-1132T>C (n.359-1132T>C)
c.1050T>C (p.Pro350=)
c.1182T>C (p.Pro394=)
12g.55956995A>TCA480364677PMELc.1308T>A (p.Pro436=)
c.735T>A (p.Pro245=)
c.844T>A
n.235+113T>A
c.359-1132T>A (n.359-1132T>A)
c.1050T>A (p.Pro350=)
c.1182T>A (p.Pro394=)
12g.55956996G>ACA385216601PMELc.1307C>T (p.Pro436Leu)
c.734C>T (p.Pro245Leu)
c.843C>T
n.235+112C>T
c.359-1133C>T (n.359-1133C>T)
c.1049C>T (p.Pro350Leu)
c.1181C>T (p.Pro394Leu)
12g.55956996G>CCA6620036PMELc.1307C>G (p.Pro436Arg)
c.734C>G (p.Pro245Arg)
c.843C>G
n.235+112C>G
c.359-1133C>G (n.359-1133C>G)
c.1049C>G (p.Pro350Arg)
c.1181C>G (p.Pro394Arg)
 dbSNP ExAC
12g.55956996G=CA2038180945PMELc.1307C= (p.Pro436=)
c.734C= (p.Pro245=)
c.843C=
n.235+112C=
c.359-1133C= (n.359-1133C=)
c.1049C= (p.Pro350=)
c.1181C= (p.Pro394=)
12g.55956996G>TCA385216603PMELc.1307C>A (p.Pro436His)
c.734C>A (p.Pro245His)
c.843C>A
n.235+112C>A
c.359-1133C>A (n.359-1133C>A)
c.1049C>A (p.Pro350His)
c.1181C>A (p.Pro394His)
12g.55956997G>ACA385216605PMELc.1306C>T (p.Pro436Ser)
c.733C>T (p.Pro245Ser)
c.842C>T
n.235+111C>T
c.359-1134C>T (n.359-1134C>T)
c.1048C>T (p.Pro350Ser)
c.1180C>T (p.Pro394Ser)
12g.55956997G>CCA385216607PMELc.1306C>G (p.Pro436Ala)
c.733C>G (p.Pro245Ala)
c.842C>G
n.235+111C>G
c.359-1134C>G (n.359-1134C>G)
c.1048C>G (p.Pro350Ala)
c.1180C>G (p.Pro394Ala)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55956997G=CA2038180948PMELc.1306C= (p.Pro436=)
c.733C= (p.Pro245=)
c.842C=
n.235+111C=
c.359-1134C= (n.359-1134C=)
c.1048C= (p.Pro350=)
c.1180C= (p.Pro394=)
12g.55956997G>TCA385216609PMELc.1306C>A (p.Pro436Thr)
c.733C>A (p.Pro245Thr)
c.842C>A
n.235+111C>A
c.359-1134C>A (n.359-1134C>A)
c.1048C>A (p.Pro350Thr)
c.1180C>A (p.Pro394Thr)
12g.55956998C>ACA385216610PMELc.1305G>T (p.Glu435Asp)
c.732G>T (p.Glu244Asp)
c.841G>T
n.235+110G>T
c.359-1135G>T (n.359-1135G>T)
c.1047G>T (p.Glu349Asp)
c.1179G>T (p.Glu393Asp)
12g.55956998C=CA2038180950PMELc.1305G= (p.Glu435=)
c.732G= (p.Glu244=)
c.841G=
n.235+110G=
c.359-1135G= (n.359-1135G=)
c.1047G= (p.Glu349=)
c.1179G= (p.Glu393=)
12g.55956998C>GCA385216612PMELc.1305G>C (p.Glu435Asp)
c.732G>C (p.Glu244Asp)
c.841G>C
n.235+110G>C
c.359-1135G>C (n.359-1135G>C)
c.1047G>C (p.Glu349Asp)
c.1179G>C (p.Glu393Asp)
12g.55956998C>TCA6620037PMELc.1305G>A (p.Glu435=)
c.732G>A (p.Glu244=)
c.841G>A
n.235+110G>A
c.359-1135G>A (n.359-1135G>A)
c.1047G>A (p.Glu349=)
c.1179G>A (p.Glu393=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55956999T>ACA385216614PMELc.1304A>T (p.Glu435Val)
c.731A>T (p.Glu244Val)
c.840A>T
n.235+109A>T
c.359-1136A>T (n.359-1136A>T)
c.1046A>T (p.Glu349Val)
c.1178A>T (p.Glu393Val)
12g.55956999T>CCA385216616PMELc.1304A>G (p.Glu435Gly)
c.731A>G (p.Glu244Gly)
c.840A>G
n.235+109A>G
c.359-1136A>G (n.359-1136A>G)
c.1046A>G (p.Glu349Gly)
c.1178A>G (p.Glu393Gly)
12g.55956999T>GCA385216617PMELc.1304A>C (p.Glu435Ala)
c.731A>C (p.Glu244Ala)
c.840A>C
n.235+109A>C
c.359-1136A>C (n.359-1136A>C)
c.1046A>C (p.Glu349Ala)
c.1178A>C (p.Glu393Ala)
12g.55957000C>ACA385216619PMELc.1303G>T (p.Glu435Ter)
c.730G>T (p.Glu244Ter)
c.839G>T
n.235+108G>T
c.359-1137G>T (n.359-1137G>T)
c.1045G>T (p.Glu349Ter)
c.1177G>T (p.Glu393Ter)
12g.55957000C=CA2038180958PMELc.1303G= (p.Glu435=)
c.730G= (p.Glu244=)
c.839G=
n.235+108G=
c.359-1137G= (n.359-1137G=)
c.1045G= (p.Glu349=)
c.1177G= (p.Glu393=)
12g.55957000C>GCA385216621PMELc.1303G>C (p.Glu435Gln)
c.730G>C (p.Glu244Gln)
c.839G>C
n.235+108G>C
c.359-1137G>C (n.359-1137G>C)
c.1045G>C (p.Glu349Gln)
c.1177G>C (p.Glu393Gln)
12g.55957000C>TCA237590867PMELc.1303G>A (p.Glu435Lys)
c.730G>A (p.Glu244Lys)
c.839G>A
n.235+108G>A
c.359-1137G>A (n.359-1137G>A)
c.1045G>A (p.Glu349Lys)
c.1177G>A (p.Glu393Lys)
 dbSNP gnomAD v4
12g.55957001A>CCA480364684PMELc.1302T>G (p.Pro434=)
c.729T>G (p.Pro243=)
c.838T>G
n.235+107T>G
c.359-1138T>G (n.359-1138T>G)
c.1044T>G (p.Pro348=)
c.1176T>G (p.Pro392=)
 gnomAD v4
12g.55957001A>GCA480364686PMELc.1302T>C (p.Pro434=)
c.729T>C (p.Pro243=)
c.838T>C
n.235+107T>C
c.359-1138T>C (n.359-1138T>C)
c.1044T>C (p.Pro348=)
c.1176T>C (p.Pro392=)
12g.55957001A>TCA480364687PMELc.1302T>A (p.Pro434=)
c.729T>A (p.Pro243=)
c.838T>A
n.235+107T>A
c.359-1138T>A (n.359-1138T>A)
c.1044T>A (p.Pro348=)
c.1176T>A (p.Pro392=)
12g.55957002G>ACA385216625PMELc.1301C>T (p.Pro434Leu)
c.728C>T (p.Pro243Leu)
c.837C>T
n.235+106C>T
c.359-1139C>T (n.359-1139C>T)
c.1043C>T (p.Pro348Leu)
c.1175C>T (p.Pro392Leu)
12g.55957002G>CCA385216623PMELc.1301C>G (p.Pro434Arg)
c.728C>G (p.Pro243Arg)
c.837C>G
n.235+106C>G
c.359-1139C>G (n.359-1139C>G)
c.1043C>G (p.Pro348Arg)
c.1175C>G (p.Pro392Arg)
12g.55957002G>TCA385216624PMELc.1301C>A (p.Pro434His)
c.728C>A (p.Pro243His)
c.837C>A
n.235+106C>A
c.359-1139C>A (n.359-1139C>A)
c.1043C>A (p.Pro348His)
c.1175C>A (p.Pro392His)
12g.55957003G>ACA385216627PMELc.1300C>T (p.Pro434Ser)
c.727C>T (p.Pro243Ser)
c.836C>T
n.235+105C>T
c.359-1140C>T (n.359-1140C>T)
c.1042C>T (p.Pro348Ser)
c.1174C>T (p.Pro392Ser)
 COSMIC COSMIC
12g.55957003G>CCA6620038PMELc.1300C>G (p.Pro434Ala)
c.727C>G (p.Pro243Ala)
c.836C>G
n.235+105C>G
c.359-1140C>G (n.359-1140C>G)
c.1042C>G (p.Pro348Ala)
c.1174C>G (p.Pro392Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957003G=CA2038180961PMELc.1300C= (p.Pro434=)
c.727C= (p.Pro243=)
c.836C=
n.235+105C=
c.359-1140C= (n.359-1140C=)
c.1042C= (p.Pro348=)
c.1174C= (p.Pro392=)
12g.55957003G>TCA385216629PMELc.1300C>A (p.Pro434Thr)
c.727C>A (p.Pro243Thr)
c.836C>A
n.235+105C>A
c.359-1140C>A (n.359-1140C>A)
c.1042C>A (p.Pro348Thr)
c.1174C>A (p.Pro392Thr)
12g.55957004G>ACA480364690PMELc.1299C>T (p.Ile433=)
c.726C>T (p.Ile242=)
c.835C>T
n.235+104C>T
c.359-1141C>T (n.359-1141C>T)
c.1041C>T (p.Ile347=)
c.1173C>T (p.Ile391=)
 gnomAD v4
12g.55957004G>CCA385216631PMELc.1299C>G (p.Ile433Met)
c.726C>G (p.Ile242Met)
c.835C>G
n.235+104C>G
c.359-1141C>G (n.359-1141C>G)
c.1041C>G (p.Ile347Met)
c.1173C>G (p.Ile391Met)
 gnomAD v4
12g.55957004G>TCA480364688PMELc.1299C>A (p.Ile433=)
c.726C>A (p.Ile242=)
c.835C>A
n.235+104C>A
c.359-1141C>A (n.359-1141C>A)
c.1041C>A (p.Ile347=)
c.1173C>A (p.Ile391=)
12g.55957005A=CA2038180964PMELc.1298T= (p.Ile433=)
c.725T= (p.Ile242=)
c.834T=
n.235+103T=
c.359-1142T= (n.359-1142T=)
c.1040T= (p.Ile347=)
c.1172T= (p.Ile391=)
12g.55957005A>CCA385216633PMELc.1298T>G (p.Ile433Ser)
c.725T>G (p.Ile242Ser)
c.834T>G
n.235+103T>G
c.359-1142T>G (n.359-1142T>G)
c.1040T>G (p.Ile347Ser)
c.1172T>G (p.Ile391Ser)
12g.55957005A>GCA385216635PMELc.1298T>C (p.Ile433Thr)
c.725T>C (p.Ile242Thr)
c.834T>C
n.235+103T>C
c.359-1142T>C (n.359-1142T>C)
c.1040T>C (p.Ile347Thr)
c.1172T>C (p.Ile391Thr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.55957005A>TCA385216636PMELc.1298T>A (p.Ile433Asn)
c.725T>A (p.Ile242Asn)
c.834T>A
n.235+103T>A
c.359-1142T>A (n.359-1142T>A)
c.1040T>A (p.Ile347Asn)
c.1172T>A (p.Ile391Asn)
12g.55957006T>ACA385216637PMELc.1297A>T (p.Ile433Phe)
c.724A>T (p.Ile242Phe)
c.833A>T
n.235+102A>T
c.359-1143A>T (n.359-1143A>T)
c.1039A>T (p.Ile347Phe)
c.1171A>T (p.Ile391Phe)
12g.55957006T>CCA385216638PMELc.1297A>G (p.Ile433Val)
c.724A>G (p.Ile242Val)
c.833A>G
n.235+102A>G
c.359-1143A>G (n.359-1143A>G)
c.1039A>G (p.Ile347Val)
c.1171A>G (p.Ile391Val)
12g.55957006T>GCA385216641PMELc.1297A>C (p.Ile433Leu)
c.724A>C (p.Ile242Leu)
c.833A>C
n.235+102A>C
c.359-1143A>C (n.359-1143A>C)
c.1039A>C (p.Ile347Leu)
c.1171A>C (p.Ile391Leu)
12g.55957007A>CCA480364695PMELc.1296T>G (p.Pro432=)
c.723T>G (p.Pro241=)
c.832T>G
n.235+101T>G
c.359-1144T>G (n.359-1144T>G)
c.1038T>G (p.Pro346=)
c.1170T>G (p.Pro390=)
12g.55957007A>GCA480364696PMELc.1296T>C (p.Pro432=)
c.723T>C (p.Pro241=)
c.832T>C
n.235+101T>C
c.359-1144T>C (n.359-1144T>C)
c.1038T>C (p.Pro346=)
c.1170T>C (p.Pro390=)
12g.55957007A>TCA480364697PMELc.1296T>A (p.Pro432=)
c.723T>A (p.Pro241=)
c.832T>A
n.235+101T>A
c.359-1144T>A (n.359-1144T>A)
c.1038T>A (p.Pro346=)
c.1170T>A (p.Pro390=)
12g.55957007_55957008delinsAGCA2038180967PMELc.1295_1296delinsCT (p.Pro432=)
c.722_723delinsCT (p.Pro241=)
c.831_832delinsCT
n.235+100_235+101delinsCT
c.359-1145_359-1144delinsCT (n.359-1145_359-1144delinsCT)
c.1037_1038delinsCT (p.Pro346=)
c.1169_1170delinsCT (p.Pro390=)
12g.55957008G>ACA385216644PMELc.1295C>T (p.Pro432Leu)
c.722C>T (p.Pro241Leu)
c.831C>T
n.235+100C>T
c.359-1145C>T (n.359-1145C>T)
c.1037C>T (p.Pro346Leu)
c.1169C>T (p.Pro390Leu)
12g.55957008G>CCA385216646PMELc.1295C>G (p.Pro432Arg)
c.722C>G (p.Pro241Arg)
c.831C>G
n.235+100C>G
c.359-1145C>G (n.359-1145C>G)
c.1037C>G (p.Pro346Arg)
c.1169C>G (p.Pro390Arg)
12g.55957008G>TCA385216643PMELc.1295C>A (p.Pro432His)
c.722C>A (p.Pro241His)
c.831C>A
n.235+100C>A
c.359-1145C>A (n.359-1145C>A)
c.1037C>A (p.Pro346His)
c.1169C>A (p.Pro390His)
12g.55957009delCA6620039PMELc.1295del (p.Pro432LeufsTer?)
c.722del (p.Pro241LeufsTer?)
c.831del
n.235+100del
c.359-1145del (n.359-1145del)
c.1037del (p.Pro346LeufsTer?)
c.1169del (p.Pro390LeufsTer?)
 dbSNP ExAC gnomAD v2
12g.55957009G>ACA6620040PMELc.1294C>T (p.Pro432Ser)
c.721C>T (p.Pro241Ser)
c.830C>T
n.235+99C>T
c.359-1146C>T (n.359-1146C>T)
c.1036C>T (p.Pro346Ser)
c.1168C>T (p.Pro390Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.55957009G>CCA385216649PMELc.1294C>G (p.Pro432Ala)
c.721C>G (p.Pro241Ala)
c.830C>G
n.235+99C>G
c.359-1146C>G (n.359-1146C>G)
c.1036C>G (p.Pro346Ala)
c.1168C>G (p.Pro390Ala)
 gnomAD v4
12g.55957009G=CA2038180975PMELc.1294C= (p.Pro432=)
c.721C= (p.Pro241=)
c.830C=
n.235+99C=
c.359-1146C= (n.359-1146C=)
c.1036C= (p.Pro346=)
c.1168C= (p.Pro390=)
12g.55957009G>TCA385216650PMELc.1294C>A (p.Pro432Thr)
c.721C>A (p.Pro241Thr)
c.830C>A
n.235+99C>A
c.359-1146C>A (n.359-1146C>A)
c.1036C>A (p.Pro346Thr)
c.1168C>A (p.Pro390Thr)
12g.55957010T>ACA480364702PMELc.1293A>T (p.Leu431=)
c.720A>T (p.Leu240=)
c.829A>T
n.235+98A>T
c.359-1147A>T (n.359-1147A>T)
c.1035A>T (p.Leu345=)
c.1167A>T (p.Leu389=)
12g.55957010T>CCA480364704PMELc.1293A>G (p.Leu431=)
c.720A>G (p.Leu240=)
c.829A>G
n.235+98A>G
c.359-1147A>G (n.359-1147A>G)
c.1035A>G (p.Leu345=)
c.1167A>G (p.Leu389=)
12g.55957010T>GCA480364703PMELc.1293A>C (p.Leu431=)
c.720A>C (p.Leu240=)
c.829A>C
n.235+98A>C
c.359-1147A>C (n.359-1147A>C)
c.1035A>C (p.Leu345=)
c.1167A>C (p.Leu389=)
12g.55957011A>CCA385216653PMELc.1292T>G (p.Leu431Arg)
c.719T>G (p.Leu240Arg)
c.828T>G
n.235+97T>G
c.359-1148T>G (n.359-1148T>G)
c.1034T>G (p.Leu345Arg)
c.1166T>G (p.Leu389Arg)
12g.55957011A>GCA385216655PMELc.1292T>C (p.Leu431Pro)
c.719T>C (p.Leu240Pro)
c.828T>C
n.235+97T>C
c.359-1148T>C (n.359-1148T>C)
c.1034T>C (p.Leu345Pro)
c.1166T>C (p.Leu389Pro)
12g.55957011A>TCA385216656PMELc.1292T>A (p.Leu431Gln)
c.719T>A (p.Leu240Gln)
c.828T>A
n.235+97T>A
c.359-1148T>A (n.359-1148T>A)
c.1034T>A (p.Leu345Gln)
c.1166T>A (p.Leu389Gln)
12g.55957012G>ACA480364707PMELc.1291C>T (p.Leu431=)
c.718C>T (p.Leu240=)
c.827C>T
n.235+96C>T
c.359-1149C>T (n.359-1149C>T)
c.1033C>T (p.Leu345=)
c.1165C>T (p.Leu389=)
12g.55957012G>CCA385216658PMELc.1291C>G (p.Leu431Val)
c.718C>G (p.Leu240Val)
c.827C>G
n.235+96C>G
c.359-1149C>G (n.359-1149C>G)
c.1033C>G (p.Leu345Val)
c.1165C>G (p.Leu389Val)
12g.55957012G>TCA385216659PMELc.1291C>A (p.Leu431Ile)
c.718C>A (p.Leu240Ile)
c.827C>A
n.235+96C>A
c.359-1149C>A (n.359-1149C>A)
c.1033C>A (p.Leu345Ile)
c.1165C>A (p.Leu389Ile)
12g.55957013C>ACA385216661PMELc.1290G>T (p.Glu430Asp)
c.717G>T (p.Glu239Asp)
c.826G>T
n.235+95G>T
c.359-1150G>T (n.359-1150G>T)
c.1032G>T (p.Glu344Asp)
c.1164G>T (p.Glu388Asp)
12g.55957013C=CA2038180979PMELc.1290G= (p.Glu430=)
c.717G= (p.Glu239=)
c.826G=
n.235+95G=
c.359-1150G= (n.359-1150G=)
c.1032G= (p.Glu344=)
c.1164G= (p.Glu388=)
12g.55957013C>GCA385216663PMELc.1290G>C (p.Glu430Asp)
c.717G>C (p.Glu239Asp)
c.826G>C
n.235+95G>C
c.359-1150G>C (n.359-1150G>C)
c.1032G>C (p.Glu344Asp)
c.1164G>C (p.Glu388Asp)
12g.55957013C>TCA480364712PMELc.1290G>A (p.Glu430=)
c.717G>A (p.Glu239=)
c.826G>A
n.235+95G>A
c.359-1150G>A (n.359-1150G>A)
c.1032G>A (p.Glu344=)
c.1164G>A (p.Glu388=)
 dbSNP
12g.55957014T>ACA385216664PMELc.1289A>T (p.Glu430Val)
c.716A>T (p.Glu239Val)
c.825A>T
n.235+94A>T
c.359-1151A>T (n.359-1151A>T)
c.1031A>T (p.Glu344Val)
c.1163A>T (p.Glu388Val)
12g.55957014T>CCA385216668PMELc.1289A>G (p.Glu430Gly)
c.716A>G (p.Glu239Gly)
c.825A>G
n.235+94A>G
c.359-1151A>G (n.359-1151A>G)
c.1031A>G (p.Glu344Gly)
c.1163A>G (p.Glu388Gly)
12g.55957014T>GCA385216669PMELc.1289A>C (p.Glu430Ala)
c.716A>C (p.Glu239Ala)
c.825A>C
n.235+94A>C
c.359-1151A>C (n.359-1151A>C)
c.1031A>C (p.Glu344Ala)
c.1163A>C (p.Glu388Ala)
12g.55957015C>ACA385216671PMELc.1288G>T (p.Glu430Ter)
c.715G>T (p.Glu239Ter)
c.824G>T
n.235+93G>T
c.359-1152G>T (n.359-1152G>T)
c.1030G>T (p.Glu344Ter)
c.1162G>T (p.Glu388Ter)
12g.55957015C=CA2038180981PMELc.1288G= (p.Glu430=)
c.715G= (p.Glu239=)
c.824G=
n.235+93G=
c.359-1152G= (n.359-1152G=)
c.1030G= (p.Glu344=)
c.1162G= (p.Glu388=)
12g.55957015C>GCA385216670PMELc.1288G>C (p.Glu430Gln)
c.715G>C (p.Glu239Gln)
c.824G>C
n.235+93G>C
c.359-1152G>C (n.359-1152G>C)
c.1030G>C (p.Glu344Gln)
c.1162G>C (p.Glu388Gln)
 dbSNP
12g.55957015C>TCA6620041PMELc.1288G>A (p.Glu430Lys)
c.715G>A (p.Glu239Lys)
c.824G>A
n.235+93G>A
c.359-1152G>A (n.359-1152G>A)
c.1030G>A (p.Glu344Lys)
c.1162G>A (p.Glu388Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957016T>ACA385216672PMELc.1287A>T (p.Arg429Ser)
c.714A>T (p.Arg238Ser)
c.823A>T
n.235+92A>T
c.359-1153A>T (n.359-1153A>T)
c.1029A>T (p.Arg343Ser)
c.1161A>T (p.Arg387Ser)
12g.55957016T>CCA480364716PMELc.1287A>G (p.Arg429=)
c.714A>G (p.Arg238=)
c.823A>G
n.235+92A>G
c.359-1153A>G (n.359-1153A>G)
c.1029A>G (p.Arg343=)
c.1161A>G (p.Arg387=)
12g.55957016T>GCA385216674PMELc.1287A>C (p.Arg429Ser)
c.714A>C (p.Arg238Ser)
c.823A>C
n.235+92A>C
c.359-1153A>C (n.359-1153A>C)
c.1029A>C (p.Arg343Ser)
c.1161A>C (p.Arg387Ser)
12g.55957016_55957017insACA2619240889PMELc.1286_1287insT (p.Arg429SerfsTer7)
c.713_714insT (p.Arg238SerfsTer7)
c.822_823insT
n.235+91_235+92insT
c.359-1154_359-1153insT (n.359-1154_359-1153insT)
c.1028_1029insT (p.Arg343SerfsTer7)
c.1160_1161insT (p.Arg387SerfsTer7)
 gnomAD v4
12g.55957017C>ACA385216676PMELc.1286G>T (p.Arg429Ile)
c.713G>T (p.Arg238Ile)
c.822G>T
n.235+91G>T
c.359-1154G>T (n.359-1154G>T)
c.1028G>T (p.Arg343Ile)
c.1160G>T (p.Arg387Ile)
12g.55957017C=CA2038180987PMELc.1286G= (p.Arg429=)
c.713G= (p.Arg238=)
c.822G=
n.235+91G=
c.359-1154G= (n.359-1154G=)
c.1028G= (p.Arg343=)
c.1160G= (p.Arg387=)
12g.55957017C>GCA385216678PMELc.1286G>C (p.Arg429Thr)
c.713G>C (p.Arg238Thr)
c.822G>C
n.235+91G>C
c.359-1154G>C (n.359-1154G>C)
c.1028G>C (p.Arg343Thr)
c.1160G>C (p.Arg387Thr)
12g.55957017C>TCA385216679PMELc.1286G>A (p.Arg429Lys)
c.713G>A (p.Arg238Lys)
c.822G>A
n.235+91G>A
c.359-1154G>A (n.359-1154G>A)
c.1028G>A (p.Arg343Lys)
c.1160G>A (p.Arg387Lys)
 dbSNP
12g.55957018T>ACA385216680PMELc.1285A>T (p.Arg429Ter)
c.712A>T (p.Arg238Ter)
c.821A>T
n.235+90A>T
c.359-1155A>T (n.359-1155A>T)
c.1027A>T (p.Arg343Ter)
c.1159A>T (p.Arg387Ter)
12g.55957018T>CCA385216681PMELc.1285A>G (p.Arg429Gly)
c.712A>G (p.Arg238Gly)
c.821A>G
n.235+90A>G
c.359-1155A>G (n.359-1155A>G)
c.1027A>G (p.Arg343Gly)
c.1159A>G (p.Arg387Gly)
12g.55957018T>GCA480364717PMELc.1285A>C (p.Arg429=)
c.712A>C (p.Arg238=)
c.821A>C
n.235+90A>C
c.359-1155A>C (n.359-1155A>C)
c.1027A>C (p.Arg343=)
c.1159A>C (p.Arg387=)
12g.55957019A>CCA480364718PMELc.1284T>G (p.Ala428=)
c.711T>G (p.Ala237=)
c.820T>G
n.235+89T>G
c.359-1156T>G (n.359-1156T>G)
c.1026T>G (p.Ala342=)
c.1158T>G (p.Ala386=)
12g.55957019A>GCA480364719PMELc.1284T>C (p.Ala428=)
c.711T>C (p.Ala237=)
c.820T>C
n.235+89T>C
c.359-1156T>C (n.359-1156T>C)
c.1026T>C (p.Ala342=)
c.1158T>C (p.Ala386=)
 gnomAD v4
12g.55957019A>TCA480364720PMELc.1284T>A (p.Ala428=)
c.711T>A (p.Ala237=)
c.820T>A
n.235+89T>A
c.359-1156T>A (n.359-1156T>A)
c.1026T>A (p.Ala342=)
c.1158T>A (p.Ala386=)
12g.55957020G>ACA385216682PMELc.1283C>T (p.Ala428Val)
c.710C>T (p.Ala237Val)
c.819C>T
n.235+88C>T
c.359-1157C>T (n.359-1157C>T)
c.1025C>T (p.Ala342Val)
c.1157C>T (p.Ala386Val)
12g.55957020G>CCA385216683PMELc.1283C>G (p.Ala428Gly)
c.710C>G (p.Ala237Gly)
c.819C>G
n.235+88C>G
c.359-1157C>G (n.359-1157C>G)
c.1025C>G (p.Ala342Gly)
c.1157C>G (p.Ala386Gly)
12g.55957020G>TCA385216684PMELc.1283C>A (p.Ala428Asp)
c.710C>A (p.Ala237Asp)
c.819C>A
n.235+88C>A
c.359-1157C>A (n.359-1157C>A)
c.1025C>A (p.Ala342Asp)
c.1157C>A (p.Ala386Asp)
 gnomAD v4
12g.55957021C>ACA385216686PMELc.1282G>T (p.Ala428Ser)
c.709G>T (p.Ala237Ser)
c.818G>T
n.235+87G>T
c.359-1158G>T (n.359-1158G>T)
c.1024G>T (p.Ala342Ser)
c.1156G>T (p.Ala386Ser)
12g.55957021C=CA2038180992PMELc.1282G= (p.Ala428=)
c.709G= (p.Ala237=)
c.818G=
n.235+87G=
c.359-1158G= (n.359-1158G=)
c.1024G= (p.Ala342=)
c.1156G= (p.Ala386=)
12g.55957021C>GCA6620042PMELc.1282G>C (p.Ala428Pro)
c.709G>C (p.Ala237Pro)
c.818G>C
n.235+87G>C
c.359-1158G>C (n.359-1158G>C)
c.1024G>C (p.Ala342Pro)
c.1156G>C (p.Ala386Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957021C>TCA385216690PMELc.1282G>A (p.Ala428Thr)
c.709G>A (p.Ala237Thr)
c.818G>A
n.235+87G>A
c.359-1158G>A (n.359-1158G>A)
c.1024G>A (p.Ala342Thr)
c.1156G>A (p.Ala386Thr)
12g.55957022T>ACA480364722PMELc.1281A>T (p.Thr427=)
c.708A>T (p.Thr236=)
c.817A>T
n.235+86A>T
c.359-1159A>T (n.359-1159A>T)
c.1023A>T (p.Thr341=)
c.1155A>T (p.Thr385=)
12g.55957022T>CCA480364723PMELc.1281A>G (p.Thr427=)
c.708A>G (p.Thr236=)
c.817A>G
n.235+86A>G
c.359-1159A>G (n.359-1159A>G)
c.1023A>G (p.Thr341=)
c.1155A>G (p.Thr385=)
12g.55957022T>GCA480364724PMELc.1281A>C (p.Thr427=)
c.708A>C (p.Thr236=)
c.817A>C
n.235+86A>C
c.359-1159A>C (n.359-1159A>C)
c.1023A>C (p.Thr341=)
c.1155A>C (p.Thr385=)
12g.55957023G>ACA385216695PMELc.1280C>T (p.Thr427Ile)
c.707C>T (p.Thr236Ile)
c.816C>T
n.235+85C>T
c.359-1160C>T (n.359-1160C>T)
c.1022C>T (p.Thr341Ile)
c.1154C>T (p.Thr385Ile)
 gnomAD v4
12g.55957023G>CCA385216692PMELc.1280C>G (p.Thr427Arg)
c.707C>G (p.Thr236Arg)
c.816C>G
n.235+85C>G
c.359-1160C>G (n.359-1160C>G)
c.1022C>G (p.Thr341Arg)
c.1154C>G (p.Thr385Arg)
12g.55957023G>TCA385216694PMELc.1280C>A (p.Thr427Lys)
c.707C>A (p.Thr236Lys)
c.816C>A
n.235+85C>A
c.359-1160C>A (n.359-1160C>A)
c.1022C>A (p.Thr341Lys)
c.1154C>A (p.Thr385Lys)
12g.55957024T>ACA385216697PMELc.1279A>T (p.Thr427Ser)
c.706A>T (p.Thr236Ser)
c.815A>T
n.235+84A>T
c.359-1161A>T (n.359-1161A>T)
c.1021A>T (p.Thr341Ser)
c.1153A>T (p.Thr385Ser)
12g.55957024T>CCA385216699PMELc.1279A>G (p.Thr427Ala)
c.706A>G (p.Thr236Ala)
c.815A>G
n.235+84A>G
c.359-1161A>G (n.359-1161A>G)
c.1021A>G (p.Thr341Ala)
c.1153A>G (p.Thr385Ala)
12g.55957024T>GCA385216700PMELc.1279A>C (p.Thr427Pro)
c.706A>C (p.Thr236Pro)
c.815A>C
n.235+84A>C
c.359-1161A>C (n.359-1161A>C)
c.1021A>C (p.Thr341Pro)
c.1153A>C (p.Thr385Pro)
12g.55957025G>ACA480364727PMELc.1278C>T (p.Thr426=)
c.705C>T (p.Thr235=)
c.814C>T
n.235+83C>T
c.359-1162C>T (n.359-1162C>T)
c.1020C>T (p.Thr340=)
c.1152C>T (p.Thr384=)
12g.55957025G>CCA480364725PMELc.1278C>G (p.Thr426=)
c.705C>G (p.Thr235=)
c.814C>G
n.235+83C>G
c.359-1162C>G (n.359-1162C>G)
c.1020C>G (p.Thr340=)
c.1152C>G (p.Thr384=)
12g.55957025G>TCA480364726PMELc.1278C>A (p.Thr426=)
c.705C>A (p.Thr235=)
c.814C>A
n.235+83C>A
c.359-1162C>A (n.359-1162C>A)
c.1020C>A (p.Thr340=)
c.1152C>A (p.Thr384=)
12g.55957026G>ACA385216702PMELc.1277C>T (p.Thr426Ile)
c.704C>T (p.Thr235Ile)
c.813C>T
n.235+82C>T
c.359-1163C>T (n.359-1163C>T)
c.1019C>T (p.Thr340Ile)
c.1151C>T (p.Thr384Ile)
12g.55957026G>CCA385216704PMELc.1277C>G (p.Thr426Ser)
c.704C>G (p.Thr235Ser)
c.813C>G
n.235+82C>G
c.359-1163C>G (n.359-1163C>G)
c.1019C>G (p.Thr340Ser)
c.1151C>G (p.Thr384Ser)
12g.55957026G>TCA385216706PMELc.1277C>A (p.Thr426Asn)
c.704C>A (p.Thr235Asn)
c.813C>A
n.235+82C>A
c.359-1163C>A (n.359-1163C>A)
c.1019C>A (p.Thr340Asn)
c.1151C>A (p.Thr384Asn)
12g.55957027T>ACA385216710PMELc.1276A>T (p.Thr426Ser)
c.703A>T (p.Thr235Ser)
c.812A>T
n.235+81A>T
c.359-1164A>T (n.359-1164A>T)
c.1018A>T (p.Thr340Ser)
c.1150A>T (p.Thr384Ser)
12g.55957027T>CCA385216708PMELc.1276A>G (p.Thr426Ala)
c.703A>G (p.Thr235Ala)
c.812A>G
n.235+81A>G
c.359-1164A>G (n.359-1164A>G)
c.1018A>G (p.Thr340Ala)
c.1150A>G (p.Thr384Ala)
12g.55957027T>GCA385216709PMELc.1276A>C (p.Thr426Pro)
c.703A>C (p.Thr235Pro)
c.812A>C
n.235+81A>C
c.359-1164A>C (n.359-1164A>C)
c.1018A>C (p.Thr340Pro)
c.1150A>C (p.Thr384Pro)
12g.55957028C>ACA385216712PMELc.1275G>T (p.Glu425Asp)
c.702G>T (p.Glu234Asp)
c.811G>T
n.235+80G>T
c.359-1165G>T (n.359-1165G>T)
c.1017G>T (p.Glu339Asp)
c.1149G>T (p.Glu383Asp)
12g.55957028C>GCA385216714PMELc.1275G>C (p.Glu425Asp)
c.702G>C (p.Glu234Asp)
c.811G>C
n.235+80G>C
c.359-1165G>C (n.359-1165G>C)
c.1017G>C (p.Glu339Asp)
c.1149G>C (p.Glu383Asp)
 gnomAD v4
12g.55957028C>TCA480364730PMELc.1275G>A (p.Glu425=)
c.702G>A (p.Glu234=)
c.811G>A
n.235+80G>A
c.359-1165G>A (n.359-1165G>A)
c.1017G>A (p.Glu339=)
c.1149G>A (p.Glu383=)
12g.55957029T>ACA385216715PMELc.1274A>T (p.Glu425Val)
c.701A>T (p.Glu234Val)
c.810A>T
n.235+79A>T
c.359-1166A>T (n.359-1166A>T)
c.1016A>T (p.Glu339Val)
c.1148A>T (p.Glu383Val)
12g.55957029T>CCA6620043PMELc.1274A>G (p.Glu425Gly)
c.701A>G (p.Glu234Gly)
c.810A>G
n.235+79A>G
c.359-1166A>G (n.359-1166A>G)
c.1016A>G (p.Glu339Gly)
c.1148A>G (p.Glu383Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957029T>GCA385216717PMELc.1274A>C (p.Glu425Ala)
c.701A>C (p.Glu234Ala)
c.810A>C
n.235+79A>C
c.359-1166A>C (n.359-1166A>C)
c.1016A>C (p.Glu339Ala)
c.1148A>C (p.Glu383Ala)
12g.55957029T=CA2038180999PMELc.1274A= (p.Glu425=)
c.701A= (p.Glu234=)
c.810A=
n.235+79A=
c.359-1166A= (n.359-1166A=)
c.1016A= (p.Glu339=)
c.1148A= (p.Glu383=)
12g.55957030C>ACA385216723PMELc.1273G>T (p.Glu425Ter)
c.700G>T (p.Glu234Ter)
c.809G>T
n.235+78G>T
c.359-1167G>T (n.359-1167G>T)
c.1015G>T (p.Glu339Ter)
c.1147G>T (p.Glu383Ter)
12g.55957030C>GCA385216719PMELc.1273G>C (p.Glu425Gln)
c.700G>C (p.Glu234Gln)
c.809G>C
n.235+78G>C
c.359-1167G>C (n.359-1167G>C)
c.1015G>C (p.Glu339Gln)
c.1147G>C (p.Glu383Gln)
12g.55957030C>TCA385216721PMELc.1273G>A (p.Glu425Lys)
c.700G>A (p.Glu234Lys)
c.809G>A
n.235+78G>A
c.359-1167G>A (n.359-1167G>A)
c.1015G>A (p.Glu339Lys)
c.1147G>A (p.Glu383Lys)
 gnomAD v4
12g.55957031C>ACA480364732PMELc.1272G>T (p.Val424=)
c.699G>T (p.Val233=)
c.808G>T
n.235+77G>T
c.359-1168G>T (n.359-1168G>T)
c.1014G>T (p.Val338=)
c.1146G>T (p.Val382=)
12g.55957031C>GCA480364733PMELc.1272G>C (p.Val424=)
c.699G>C (p.Val233=)
c.808G>C
n.235+77G>C
c.359-1168G>C (n.359-1168G>C)
c.1014G>C (p.Val338=)
c.1146G>C (p.Val382=)
12g.55957031C>TCA480364734PMELc.1272G>A (p.Val424=)
c.699G>A (p.Val233=)
c.808G>A
n.235+77G>A
c.359-1168G>A (n.359-1168G>A)
c.1014G>A (p.Val338=)
c.1146G>A (p.Val382=)
 gnomAD v4
12g.55957032A>CCA385216725PMELc.1271T>G (p.Val424Gly)
c.698T>G (p.Val233Gly)
c.807T>G
n.235+76T>G
c.359-1169T>G (n.359-1169T>G)
c.1013T>G (p.Val338Gly)
c.1145T>G (p.Val382Gly)
 gnomAD v4
12g.55957032A>GCA385216726PMELc.1271T>C (p.Val424Ala)
c.698T>C (p.Val233Ala)
c.807T>C
n.235+76T>C
c.359-1169T>C (n.359-1169T>C)
c.1013T>C (p.Val338Ala)
c.1145T>C (p.Val382Ala)
12g.55957032A>TCA385216728PMELc.1271T>A (p.Val424Glu)
c.698T>A (p.Val233Glu)
c.807T>A
n.235+76T>A
c.359-1169T>A (n.359-1169T>A)
c.1013T>A (p.Val338Glu)
c.1145T>A (p.Val382Glu)
12g.55957033C>ACA385216730PMELc.1270G>T (p.Val424Leu)
c.697G>T (p.Val233Leu)
c.806G>T
n.235+75G>T
c.359-1170G>T (n.359-1170G>T)
c.1012G>T (p.Val338Leu)
c.1144G>T (p.Val382Leu)
12g.55957033C=CA2038181003PMELc.1270G= (p.Val424=)
c.697G= (p.Val233=)
c.806G=
n.235+75G=
c.359-1170G= (n.359-1170G=)
c.1012G= (p.Val338=)
c.1144G= (p.Val382=)
12g.55957033C>GCA385216732PMELc.1270G>C (p.Val424Leu)
c.697G>C (p.Val233Leu)
c.806G>C
n.235+75G>C
c.359-1170G>C (n.359-1170G>C)
c.1012G>C (p.Val338Leu)
c.1144G>C (p.Val382Leu)
12g.55957033C>TCA237590886PMELc.1270G>A (p.Val424Met)
c.697G>A (p.Val233Met)
c.806G>A
n.235+75G>A
c.359-1170G>A (n.359-1170G>A)
c.1012G>A (p.Val338Met)
c.1144G>A (p.Val382Met)
 dbSNP gnomAD v3 gnomAD v4
12g.55957034C>ACA385216733PMELc.1269G>T (p.Trp423Cys)
c.696G>T (p.Trp232Cys)
c.805G>T
n.235+74G>T
c.359-1171G>T (n.359-1171G>T)
c.1011G>T (p.Trp337Cys)
c.1143G>T (p.Trp381Cys)
12g.55957034C>GCA385216735PMELc.1269G>C (p.Trp423Cys)
c.696G>C (p.Trp232Cys)
c.805G>C
n.235+74G>C
c.359-1171G>C (n.359-1171G>C)
c.1011G>C (p.Trp337Cys)
c.1143G>C (p.Trp381Cys)
12g.55957034C>TCA385216737PMELc.1269G>A (p.Trp423Ter)
c.696G>A (p.Trp232Ter)
c.805G>A
n.235+74G>A
c.359-1171G>A (n.359-1171G>A)
c.1011G>A (p.Trp337Ter)
c.1143G>A (p.Trp381Ter)
12g.55957035C>ACA385216738PMELc.1268G>T (p.Trp423Leu)
c.695G>T (p.Trp232Leu)
c.804G>T
n.235+73G>T
c.359-1172G>T (n.359-1172G>T)
c.1010G>T (p.Trp337Leu)
c.1142G>T (p.Trp381Leu)
12g.55957035C>GCA385216740PMELc.1268G>C (p.Trp423Ser)
c.695G>C (p.Trp232Ser)
c.804G>C
n.235+73G>C
c.359-1172G>C (n.359-1172G>C)
c.1010G>C (p.Trp337Ser)
c.1142G>C (p.Trp381Ser)
12g.55957035C>TCA385216742PMELc.1268G>A (p.Trp423Ter)
c.695G>A (p.Trp232Ter)
c.804G>A
n.235+73G>A
c.359-1172G>A (n.359-1172G>A)
c.1010G>A (p.Trp337Ter)
c.1142G>A (p.Trp381Ter)
 gnomAD v4
12g.55957036A>CCA385216743PMELc.1267T>G (p.Trp423Gly)
c.694T>G (p.Trp232Gly)
c.803T>G
n.235+72T>G
c.359-1173T>G (n.359-1173T>G)
c.1009T>G (p.Trp337Gly)
c.1141T>G (p.Trp381Gly)
 gnomAD v4
12g.55957036A>GCA385216747PMELc.1267T>C (p.Trp423Arg)
c.694T>C (p.Trp232Arg)
c.803T>C
n.235+72T>C
c.359-1173T>C (n.359-1173T>C)
c.1009T>C (p.Trp337Arg)
c.1141T>C (p.Trp381Arg)
12g.55957036A>TCA385216745PMELc.1267T>A (p.Trp423Arg)
c.694T>A (p.Trp232Arg)
c.803T>A
n.235+72T>A
c.359-1173T>A (n.359-1173T>A)
c.1009T>A (p.Trp337Arg)
c.1141T>A (p.Trp381Arg)
12g.55957037C>ACA385216748PMELc.1266G>T (p.Glu422Asp)
c.693G>T (p.Glu231Asp)
c.802G>T
n.235+71G>T
c.359-1174G>T (n.359-1174G>T)
c.1008G>T (p.Glu336Asp)
c.1140G>T (p.Glu380Asp)
12g.55957037C=CA2038181011PMELc.1266G= (p.Glu422=)
c.693G= (p.Glu231=)
c.802G=
n.235+71G=
c.359-1174G= (n.359-1174G=)
c.1008G= (p.Glu336=)
c.1140G= (p.Glu380=)
12g.55957037C>GCA237590889PMELc.1266G>C (p.Glu422Asp)
c.693G>C (p.Glu231Asp)
c.802G>C
n.235+71G>C
c.359-1174G>C (n.359-1174G>C)
c.1008G>C (p.Glu336Asp)
c.1140G>C (p.Glu380Asp)
 dbSNP
12g.55957037C>TCA480364736PMELc.1266G>A (p.Glu422=)
c.693G>A (p.Glu231=)
c.802G>A
n.235+71G>A
c.359-1174G>A (n.359-1174G>A)
c.1008G>A (p.Glu336=)
c.1140G>A (p.Glu380=)
 dbSNP gnomAD v2 gnomAD v4
12g.55957038T>ACA385216750PMELc.1265A>T (p.Glu422Val)
c.692A>T (p.Glu231Val)
c.801A>T
n.235+70A>T
c.359-1175A>T (n.359-1175A>T)
c.1007A>T (p.Glu336Val)
c.1139A>T (p.Glu380Val)
12g.55957038T>CCA385216751PMELc.1265A>G (p.Glu422Gly)
c.692A>G (p.Glu231Gly)
c.801A>G
n.235+70A>G
c.359-1175A>G (n.359-1175A>G)
c.1007A>G (p.Glu336Gly)
c.1139A>G (p.Glu380Gly)
12g.55957038T>GCA385216753PMELc.1265A>C (p.Glu422Ala)
c.692A>C (p.Glu231Ala)
c.801A>C
n.235+70A>C
c.359-1175A>C (n.359-1175A>C)
c.1007A>C (p.Glu336Ala)
c.1139A>C (p.Glu380Ala)
12g.55957039C>ACA385216758PMELc.1264G>T (p.Glu422Ter)
c.691G>T (p.Glu231Ter)
c.800G>T
n.235+69G>T
c.359-1176G>T (n.359-1176G>T)
c.1006G>T (p.Glu336Ter)
c.1138G>T (p.Glu380Ter)
12g.55957039C=CA2038181016PMELc.1264G= (p.Glu422=)
c.691G= (p.Glu231=)
c.800G=
n.235+69G=
c.359-1176G= (n.359-1176G=)
c.1006G= (p.Glu336=)
c.1138G= (p.Glu380=)
12g.55957039C>GCA385216757PMELc.1264G>C (p.Glu422Gln)
c.691G>C (p.Glu231Gln)
c.800G>C
n.235+69G>C
c.359-1176G>C (n.359-1176G>C)
c.1006G>C (p.Glu336Gln)
c.1138G>C (p.Glu380Gln)
12g.55957039C>TCA385216755PMELc.1264G>A (p.Glu422Lys)
c.691G>A (p.Glu231Lys)
c.800G>A
n.235+69G>A
c.359-1176G>A (n.359-1176G>A)
c.1006G>A (p.Glu336Lys)
c.1138G>A (p.Glu380Lys)
 dbSNP gnomAD v2 gnomAD v4
12g.55957040T>ACA480364737PMELc.1263A>T (p.Thr421=)
c.690A>T (p.Thr230=)
c.799A>T
n.235+68A>T
c.359-1177A>T (n.359-1177A>T)
c.1005A>T (p.Thr335=)
c.1137A>T (p.Thr379=)
12g.55957040T>CCA480364738PMELc.1263A>G (p.Thr421=)
c.690A>G (p.Thr230=)
c.799A>G
n.235+68A>G
c.359-1177A>G (n.359-1177A>G)
c.1005A>G (p.Thr335=)
c.1137A>G (p.Thr379=)
12g.55957040T>GCA480364739PMELc.1263A>C (p.Thr421=)
c.690A>C (p.Thr230=)
c.799A>C
n.235+68A>C
c.359-1177A>C (n.359-1177A>C)
c.1005A>C (p.Thr335=)
c.1137A>C (p.Thr379=)
 dbSNP
12g.55957040T=CA2038181023PMELc.1263A= (p.Thr421=)
c.690A= (p.Thr230=)
c.799A=
n.235+68A=
c.359-1177A= (n.359-1177A=)
c.1005A= (p.Thr335=)
c.1137A= (p.Thr379=)
12g.55957041_55957042delCA2619240920PMELc.1262_1263del (p.Thr421ArgfsTer8)
c.689_690del (p.Thr230ArgfsTer8)
c.798_799del
n.235+67_235+68del
c.359-1178_359-1177del (n.359-1178_359-1177del)
c.1004_1005del (p.Thr335ArgfsTer8)
c.1136_1137del (p.Thr379ArgfsTer8)
 gnomAD v4
12g.55957041G>ACA385216760PMELc.1262C>T (p.Thr421Ile)
c.689C>T (p.Thr230Ile)
c.798C>T
n.235+67C>T
c.359-1178C>T (n.359-1178C>T)
c.1004C>T (p.Thr335Ile)
c.1136C>T (p.Thr379Ile)
12g.55957041G>CCA6620044PMELc.1262C>G (p.Thr421Arg)
c.689C>G (p.Thr230Arg)
c.798C>G
n.235+67C>G
c.359-1178C>G (n.359-1178C>G)
c.1004C>G (p.Thr335Arg)
c.1136C>G (p.Thr379Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.55957041G=CA2038181029PMELc.1262C= (p.Thr421=)
c.689C= (p.Thr230=)
c.798C=
n.235+67C=
c.359-1178C= (n.359-1178C=)
c.1004C= (p.Thr335=)
c.1136C= (p.Thr379=)
12g.55957041G>TCA385216761PMELc.1262C>A (p.Thr421Lys)
c.689C>A (p.Thr230Lys)
c.798C>A
n.235+67C>A
c.359-1178C>A (n.359-1178C>A)
c.1004C>A (p.Thr335Lys)
c.1136C>A (p.Thr379Lys)
12g.55957042T>ACA385216762PMELc.1261A>T (p.Thr421Ser)
c.688A>T (p.Thr230Ser)
c.797A>T
n.235+66A>T
c.359-1179A>T (n.359-1179A>T)
c.1003A>T (p.Thr335Ser)
c.1135A>T (p.Thr379Ser)
12g.55957042T>CCA385216764PMELc.1261A>G (p.Thr421Ala)
c.688A>G (p.Thr230Ala)
c.797A>G
n.235+66A>G
c.359-1179A>G (n.359-1179A>G)
c.1003A>G (p.Thr335Ala)
c.1135A>G (p.Thr379Ala)
 gnomAD v4
12g.55957042T>GCA385216766PMELc.1261A>C (p.Thr421Pro)
c.688A>C (p.Thr230Pro)
c.797A>C
n.235+66A>C
c.359-1179A>C (n.359-1179A>C)
c.1003A>C (p.Thr335Pro)
c.1135A>C (p.Thr379Pro)

Number of alleles fetched