Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
12 | g.102843648_102846953del | CA251545 | PAH | c.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 |
12 | g.102843688del | CA2695217224 | PAH | c.1157del (p.Tyr386PhefsTer14) c.1142del (p.Tyr381PhefsTer14) n.916del n.819del c.261del n.672del c.1100del (p.Tyr367PhefsTer14) | |
12 | g.102843688T>A | CA386493201 | PAH | c.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) | |
12 | g.102843688T>C | CA274152 | PAH | c.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 |
12 | g.102843688T>G | CA386493200 | PAH | c.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) | |
12 | g.102843688T= | CA2059446503 | PAH | c.1157A= (p.Tyr386=) c.1142A= (p.Tyr381=) n.916A= n.819A= c.261A= n.672A= c.1100A= (p.Tyr367=) | |
12 | g.102843689A= | CA2059446518 | PAH | c.1156T= (p.Tyr386=) c.1141T= (p.Tyr381=) n.915T= n.818T= c.260T= n.671T= c.1099T= (p.Tyr367=) | |
12 | g.102843689A>C | CA229361 | PAH | c.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 |
12 | g.102843689A>G | CA239463 | PAH | c.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 |
12 | g.102843689A>T | CA386493202 | PAH | c.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) | |
12 | g.102843689_102843690delinsGC | CA2573147924 | PAH | c.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 |
12 | g.102843690G>A | CA481375631 | PAH | c.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 |
12 | g.102843690G>C | CA180265 | PAH | c.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 |
12 | g.102843690G= | CA229360 | PAH | c.1155C= (p.Leu385=) c.1140C= (p.Leu380=) n.914C= n.817C= c.259C= n.670C= c.1098C= (p.Leu366=) | |
12 | g.102843690G>T | CA6748734 | PAH | c.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 |
12 | g.102843691A= | CA2059446528 | PAH | c.1154T= (p.Leu385=) c.1139T= (p.Leu380=) n.913T= n.816T= c.258T= n.669T= c.1097T= (p.Leu366=) | |
12 | g.102843691A>C | CA386493203 | PAH | c.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) | |
12 | g.102843691A>G | CA16020951 | PAH | c.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 |
12 | g.102843691A>T | CA386493204 | PAH | c.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 |
12 | g.102843691_102843692delinsAG | CA2059446527 | PAH | c.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=) | |
12 | g.102843692G>A | CA386493205 | PAH | c.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) | |
12 | g.102843692G>C | CA386493206 | PAH | c.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) | |
12 | g.102843692G>T | CA386493207 | PAH | c.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) | |
12 | g.102843695del | CA891843975 | PAH | c.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 |
12 | g.102843693G>A | CA481375632 | PAH | c.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=) | |
12 | g.102843693G>C | CA267626 | PAH | c.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 |
12 | g.102843693G= | CA2059446540 | PAH | c.1152C= (p.Pro384=) c.1137C= (p.Pro379=) n.911C= n.814C= c.256C= n.667C= c.1095C= (p.Pro365=) | |
12 | g.102843693G>T | CA481375633 | PAH | c.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=) | |
12 | g.102843694G>A | CA386493208 | PAH | c.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) | |
12 | g.102843694G>C | CA386493209 | PAH | c.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) | |
12 | g.102843694G>T | CA386493210 | PAH | c.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) | |
12 | g.102843695G>A | CA16020950 | PAH | c.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 |
12 | g.102843695G>C | CA386493211 | PAH | c.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 |
12 | g.102843695G= | CA2059446545 | PAH | c.1150C= (p.Pro384=) c.1135C= (p.Pro379=) n.909C= n.812C= c.254C= n.665C= c.1093C= (p.Pro365=) | |
12 | g.102843695G>T | CA386493212 | PAH | c.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) | |
12 | g.102843695_102843696delinsGC | CA2059446548 | PAH | c.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=) | |
12 | g.102843696del | CA1139662837 | PAH | c.1149del (p.Gln383HisfsTer17) c.1134del (p.Gln378HisfsTer17) n.908del n.811del c.253del n.664del c.1092del (p.Gln364HisfsTer17) | ClinVar dbSNP |
12 | g.102843696C>A | CA386493213 | PAH | c.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) | |
12 | g.102843696C>G | CA386493214 | PAH | c.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) | |
12 | g.102843696C>T | CA481375634 | PAH | c.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 |
12 | g.102843697T>A | CA386493215 | PAH | c.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) | |
12 | g.102843697T>C | CA386493217 | PAH | c.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) | |
12 | g.102843697T>G | CA386493216 | PAH | c.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) | |
12 | g.102843698G>A | CA16020949 | PAH | c.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 |
12 | g.102843698G>C | CA386493218 | PAH | c.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) | |
12 | g.102843698G= | CA2059446555 | PAH | c.1147C= (p.Gln383=) c.1132C= (p.Gln378=) n.906C= n.809C= c.251C= n.662C= c.1090C= (p.Gln364=) | |
12 | g.102843698G>T | CA386493219 | PAH | c.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) | |
12 | g.102843699G>A | CA481375635 | PAH | c.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=) | |
12 | g.102843699G>C | CA16020948 | PAH | c.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 |
12 | g.102843699G= | CA2059446559 | PAH | c.1146C= (p.Phe382=) c.1131C= (p.Phe377=) n.905C= n.808C= c.250C= n.661C= c.1089C= (p.Phe363=) |