Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.102843648_102846953delCA251545PAHc.914_1199+1del
c.899_1184+1del
n.673_958+1del
n.576_861+1del
c.74-2519_303+1del
n.429_714+1del
c.913-2519_1142+1del
ClinVar
12g.102843688delCA2695217224PAHc.1157del (p.Tyr386PhefsTer14)
c.1142del (p.Tyr381PhefsTer14)
n.916del
n.819del
c.261del
n.672del
c.1100del (p.Tyr367PhefsTer14)
12g.102843688T>ACA386493201PAHc.1157A>T (p.Tyr386Phe)
c.1142A>T (p.Tyr381Phe)
n.916A>T
n.819A>T
c.261A>T
n.672A>T
c.1100A>T (p.Tyr367Phe)
12g.102843688T>CCA274152PAHc.1157A>G (p.Tyr386Cys)
c.1142A>G (p.Tyr381Cys)
n.916A>G
n.819A>G
c.261A>G
n.672A>G
c.1100A>G (p.Tyr367Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.102843688T>GCA386493200PAHc.1157A>C (p.Tyr386Ser)
c.1142A>C (p.Tyr381Ser)
n.916A>C
n.819A>C
c.261A>C
n.672A>C
c.1100A>C (p.Tyr367Ser)
12g.102843688T=CA2059446503PAHc.1157A= (p.Tyr386=)
c.1142A= (p.Tyr381=)
n.916A=
n.819A=
c.261A=
n.672A=
c.1100A= (p.Tyr367=)
12g.102843689A=CA2059446518PAHc.1156T= (p.Tyr386=)
c.1141T= (p.Tyr381=)
n.915T=
n.818T=
c.260T=
n.671T=
c.1099T= (p.Tyr367=)
12g.102843689A>CCA229361PAHc.1156T>G (p.Tyr386Asp)
c.1141T>G (p.Tyr381Asp)
n.915T>G
n.818T>G
c.260T>G
n.671T>G
c.1099T>G (p.Tyr367Asp)
ClinVar dbSNP gnomAD v4
12g.102843689A>GCA239463PAHc.1156T>C (p.Tyr386His)
c.1141T>C (p.Tyr381His)
n.915T>C
n.818T>C
c.260T>C
n.671T>C
c.1099T>C (p.Tyr367His)
ClinVar dbSNP gnomAD v4
12g.102843689A>TCA386493202PAHc.1156T>A (p.Tyr386Asn)
c.1141T>A (p.Tyr381Asn)
n.915T>A
n.818T>A
c.260T>A
n.671T>A
c.1099T>A (p.Tyr367Asn)
12g.102843689_102843690delinsGCCA2573147924PAHc.1155_1156delinsGC (p.Tyr386His)
c.1140_1141delinsGC (p.Tyr381His)
n.914_915delinsGC
n.817_818delinsGC
c.259_260delinsGC
n.670_671delinsGC
c.1098_1099delinsGC (p.Tyr367His)
ClinVar dbSNP
12g.102843690G>ACA481375631PAHc.1155C>T (p.Leu385=)
c.1140C>T (p.Leu380=)
n.914C>T
n.817C>T
c.259C>T
n.670C>T
c.1098C>T (p.Leu366=)
dbSNP
12g.102843690G>CCA180265PAHc.1155C>G (p.Leu385=)
c.1140C>G (p.Leu380=)
n.914C>G
n.817C>G
c.259C>G
n.670C>G
c.1098C>G (p.Leu366=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102843690G=CA229360PAHc.1155C= (p.Leu385=)
c.1140C= (p.Leu380=)
n.914C=
n.817C=
c.259C=
n.670C=
c.1098C= (p.Leu366=)
12g.102843690G>TCA6748734PAHc.1155C>A (p.Leu385=)
c.1140C>A (p.Leu380=)
n.914C>A
n.817C>A
c.259C>A
n.670C>A
c.1098C>A (p.Leu366=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.102843691A=CA2059446528PAHc.1154T= (p.Leu385=)
c.1139T= (p.Leu380=)
n.913T=
n.816T=
c.258T=
n.669T=
c.1097T= (p.Leu366=)
12g.102843691A>CCA386493203PAHc.1154T>G (p.Leu385Arg)
c.1139T>G (p.Leu380Arg)
n.913T>G
n.816T>G
c.258T>G
n.669T>G
c.1097T>G (p.Leu366Arg)
12g.102843691A>GCA16020951PAHc.1154T>C (p.Leu385Pro)
c.1139T>C (p.Leu380Pro)
n.913T>C
n.816T>C
c.258T>C
n.669T>C
c.1097T>C (p.Leu366Pro)
dbSNP COSMIC
12g.102843691A>TCA386493204PAHc.1154T>A (p.Leu385His)
c.1139T>A (p.Leu380His)
n.913T>A
n.816T>A
c.258T>A
n.669T>A
c.1154T>A (p.Leu385Gln)
c.1097T>A (p.Leu366His)
COSMIC
12g.102843691_102843692delinsAGCA2059446527PAHc.1153_1154delinsCT (p.Leu385=)
c.1138_1139delinsCT (p.Leu380=)
n.912_913delinsCT
n.815_816delinsCT
c.257_258delinsCT
n.668_669delinsCT
c.1096_1097delinsCT (p.Leu366=)
12g.102843692G>ACA386493205PAHc.1153C>T (p.Leu385Phe)
c.1138C>T (p.Leu380Phe)
n.912C>T
n.815C>T
c.257C>T
n.668C>T
c.1153C>T (p.Leu385=)
c.1096C>T (p.Leu366Phe)
12g.102843692G>CCA386493206PAHc.1153C>G (p.Leu385Val)
c.1138C>G (p.Leu380Val)
n.912C>G
n.815C>G
c.257C>G
n.668C>G
c.1096C>G (p.Leu366Val)
12g.102843692G>TCA386493207PAHc.1153C>A (p.Leu385Ile)
c.1138C>A (p.Leu380Ile)
n.912C>A
n.815C>A
c.257C>A
n.668C>A
c.1153C>A (p.Leu385Met)
c.1096C>A (p.Leu366Ile)
12g.102843695delCA891843975PAHc.1153del (p.Leu385SerfsTer15)
c.1138del (p.Leu380SerfsTer15)
n.912del
n.815del
c.257del
n.668del
c.1153del (p.Leu385CysfsTer15)
c.1096del (p.Leu366SerfsTer15)
ClinVar dbSNP
12g.102843693G>ACA481375632PAHc.1152C>T (p.Pro384=)
c.1137C>T (p.Pro379=)
n.911C>T
n.814C>T
c.256C>T
n.667C>T
c.1095C>T (p.Pro365=)
12g.102843693G>CCA267626PAHc.1152C>G (p.Pro384=)
c.1137C>G (p.Pro379=)
n.911C>G
n.814C>G
c.256C>G
n.667C>G
c.1095C>G (p.Pro365=)
ClinVar dbSNP gnomAD v4
12g.102843693G=CA2059446540PAHc.1152C= (p.Pro384=)
c.1137C= (p.Pro379=)
n.911C=
n.814C=
c.256C=
n.667C=
c.1095C= (p.Pro365=)
12g.102843693G>TCA481375633PAHc.1152C>A (p.Pro384=)
c.1137C>A (p.Pro379=)
n.911C>A
n.814C>A
c.256C>A
n.667C>A
c.1095C>A (p.Pro365=)
12g.102843694G>ACA386493208PAHc.1151C>T (p.Pro384Leu)
c.1136C>T (p.Pro379Leu)
n.910C>T
n.813C>T
c.255C>T
n.666C>T
c.1094C>T (p.Pro365Leu)
12g.102843694G>CCA386493209PAHc.1151C>G (p.Pro384Arg)
c.1136C>G (p.Pro379Arg)
n.910C>G
n.813C>G
c.255C>G
n.666C>G
c.1094C>G (p.Pro365Arg)
12g.102843694G>TCA386493210PAHc.1151C>A (p.Pro384His)
c.1136C>A (p.Pro379His)
n.910C>A
n.813C>A
c.255C>A
n.666C>A
c.1094C>A (p.Pro365His)
12g.102843695G>ACA16020950PAHc.1150C>T (p.Pro384Ser)
c.1135C>T (p.Pro379Ser)
n.909C>T
n.812C>T
c.254C>T
n.665C>T
c.1093C>T (p.Pro365Ser)
ClinVar dbSNP gnomAD v4
12g.102843695G>CCA386493211PAHc.1150C>G (p.Pro384Ala)
c.1135C>G (p.Pro379Ala)
n.909C>G
n.812C>G
c.254C>G
n.665C>G
c.1093C>G (p.Pro365Ala)
gnomAD v4
12g.102843695G=CA2059446545PAHc.1150C= (p.Pro384=)
c.1135C= (p.Pro379=)
n.909C=
n.812C=
c.254C=
n.665C=
c.1093C= (p.Pro365=)
12g.102843695G>TCA386493212PAHc.1150C>A (p.Pro384Thr)
c.1135C>A (p.Pro379Thr)
n.909C>A
n.812C>A
c.254C>A
n.665C>A
c.1093C>A (p.Pro365Thr)
12g.102843695_102843696delinsGCCA2059446548PAHc.1149_1150delinsGC (p.Gln383=)
c.1134_1135delinsGC (p.Gln378=)
n.908_909delinsGC
n.811_812delinsGC
c.253_254delinsGC
n.664_665delinsGC
c.1092_1093delinsGC (p.Gln364=)
12g.102843696delCA1139662837PAHc.1149del (p.Gln383HisfsTer17)
c.1134del (p.Gln378HisfsTer17)
n.908del
n.811del
c.253del
n.664del
c.1092del (p.Gln364HisfsTer17)
ClinVar dbSNP
12g.102843696C>ACA386493213PAHc.1149G>T (p.Gln383His)
c.1134G>T (p.Gln378His)
n.908G>T
n.811G>T
c.253G>T
n.664G>T
c.1092G>T (p.Gln364His)
12g.102843696C>GCA386493214PAHc.1149G>C (p.Gln383His)
c.1134G>C (p.Gln378His)
n.908G>C
n.811G>C
c.253G>C
n.664G>C
c.1092G>C (p.Gln364His)
12g.102843696C>TCA481375634PAHc.1149G>A (p.Gln383=)
c.1134G>A (p.Gln378=)
n.908G>A
n.811G>A
c.253G>A
n.664G>A
c.1092G>A (p.Gln364=)
COSMIC
12g.102843697T>ACA386493215PAHc.1148A>T (p.Gln383Leu)
c.1133A>T (p.Gln378Leu)
n.907A>T
n.810A>T
c.252A>T
n.663A>T
c.1091A>T (p.Gln364Leu)
12g.102843697T>CCA386493217PAHc.1148A>G (p.Gln383Arg)
c.1133A>G (p.Gln378Arg)
n.907A>G
n.810A>G
c.252A>G
n.663A>G
c.1091A>G (p.Gln364Arg)
12g.102843697T>GCA386493216PAHc.1148A>C (p.Gln383Pro)
c.1133A>C (p.Gln378Pro)
n.907A>C
n.810A>C
c.252A>C
n.663A>C
c.1091A>C (p.Gln364Pro)
12g.102843698G>ACA16020949PAHc.1147C>T (p.Gln383Ter)
c.1132C>T (p.Gln378Ter)
n.906C>T
n.809C>T
c.251C>T
n.662C>T
c.1090C>T (p.Gln364Ter)
ClinVar dbSNP gnomAD v4
12g.102843698G>CCA386493218PAHc.1147C>G (p.Gln383Glu)
c.1132C>G (p.Gln378Glu)
n.906C>G
n.809C>G
c.251C>G
n.662C>G
c.1090C>G (p.Gln364Glu)
12g.102843698G=CA2059446555PAHc.1147C= (p.Gln383=)
c.1132C= (p.Gln378=)
n.906C=
n.809C=
c.251C=
n.662C=
c.1090C= (p.Gln364=)
12g.102843698G>TCA386493219PAHc.1147C>A (p.Gln383Lys)
c.1132C>A (p.Gln378Lys)
n.906C>A
n.809C>A
c.251C>A
n.662C>A
c.1090C>A (p.Gln364Lys)
12g.102843699G>ACA481375635PAHc.1146C>T (p.Phe382=)
c.1131C>T (p.Phe377=)
n.905C>T
n.808C>T
c.250C>T
n.661C>T
c.1089C>T (p.Phe363=)
12g.102843699G>CCA16020948PAHc.1146C>G (p.Phe382Leu)
c.1131C>G (p.Phe377Leu)
n.905C>G
n.808C>G
c.250C>G
n.661C>G
c.1089C>G (p.Phe363Leu)
ClinVar dbSNP
12g.102843699G=CA2059446559PAHc.1146C= (p.Phe382=)
c.1131C= (p.Phe377=)
n.905C=
n.808C=
c.250C=
n.661C=
c.1089C= (p.Phe363=)

Number of alleles fetched