| 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.102843680_102843682delinsCCA | CA2059446455 | PAH | c.1163_1165delinsTGG (p.Val388=) c.1148_1150delinsTGG (p.Val383=) n.922_924delinsTGG n.825_827delinsTGG c.267_269delinsTGG n.678_680delinsTGG c.1106_1108delinsTGG (p.Val369=) | |
| 12 | g.102843682_102843683del | CA229367 | PAH | c.1163_1164del (p.Val388GlyfsTer5) c.1148_1149del (p.Val383GlyfsTer5) n.922_923del n.825_826del c.267_268del n.678_679del c.1106_1107del (p.Val369GlyfsTer5) | ClinVar dbSNP |
| 12 | g.102843682A= | CA2059446462 | PAH | c.1163T= (p.Val388=) c.1148T= (p.Val383=) n.922T= n.825T= c.267T= n.678T= c.1106T= (p.Val369=) | |
| 12 | g.102843682A>C | CA386493190 | PAH | c.1163T>G (p.Val388Gly) c.1148T>G (p.Val383Gly) n.922T>G n.825T>G c.267T>G n.678T>G c.1106T>G (p.Val369Gly) | |
| 12 | g.102843682A>G | CA267628 | PAH | c.1163T>C (p.Val388Ala) c.1148T>C (p.Val383Ala) n.922T>C n.825T>C c.267T>C n.678T>C c.1106T>C (p.Val369Ala) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843682A>T | CA386493191 | PAH | c.1163T>A (p.Val388Glu) c.1148T>A (p.Val383Glu) n.922T>A n.825T>A c.267T>A n.678T>A c.1106T>A (p.Val369Glu) | dbSNP |
| 12 | g.102843683C>A | CA386493192 | PAH | c.1162G>T (p.Val388Leu) c.1147G>T (p.Val383Leu) n.921G>T n.824G>T c.266G>T n.677G>T c.1105G>T (p.Val369Leu) | |
| 12 | g.102843683C= | CA2059446474 | PAH | c.1162G= (p.Val388=) c.1147G= (p.Val383=) n.921G= n.824G= c.266G= n.677G= c.1105G= (p.Val369=) | |
| 12 | g.102843683C>G | CA229366 | PAH | c.1162G>C (p.Val388Leu) c.1147G>C (p.Val383Leu) n.921G>C n.824G>C c.266G>C n.677G>C c.1105G>C (p.Val369Leu) | ClinVar dbSNP |
| 12 | g.102843683C>T | CA251543 | PAH | c.1162G>A (p.Val388Met) c.1147G>A (p.Val383Met) n.921G>A n.824G>A c.266G>A n.677G>A c.1105G>A (p.Val369Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843684G>A | CA6748733 | PAH | c.1161C>T (p.Tyr387=) c.1146C>T (p.Tyr382=) n.920C>T n.823C>T c.265C>T n.676C>T c.1104C>T (p.Tyr368=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843684G>C | CA386493193 | PAH | c.1161C>G (p.Tyr387Ter) c.1146C>G (p.Tyr382Ter) n.920C>G n.823C>G c.265C>G n.676C>G c.1104C>G (p.Tyr368Ter) | ClinVar dbSNP |
| 12 | g.102843684G= | CA2059446488 | PAH | c.1161C= (p.Tyr387=) c.1146C= (p.Tyr382=) n.920C= n.823C= c.265C= n.676C= c.1104C= (p.Tyr368=) | |
| 12 | g.102843684G>T | CA16020953 | PAH | c.1161C>A (p.Tyr387Ter) c.1146C>A (p.Tyr382Ter) n.920C>A n.823C>A c.265C>A n.676C>A c.1104C>A (p.Tyr368Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843685T>A | CA386493196 | PAH | c.1160A>T (p.Tyr387Phe) c.1145A>T (p.Tyr382Phe) n.919A>T n.822A>T c.264A>T n.675A>T c.1103A>T (p.Tyr368Phe) | |
| 12 | g.102843685T>C | CA386493194 | PAH | c.1160A>G (p.Tyr387Cys) c.1145A>G (p.Tyr382Cys) n.919A>G n.822A>G c.264A>G n.675A>G c.1103A>G (p.Tyr368Cys) | |
| 12 | g.102843685T>G | CA386493195 | PAH | c.1160A>C (p.Tyr387Ser) c.1145A>C (p.Tyr382Ser) n.919A>C n.822A>C c.264A>C n.675A>C c.1103A>C (p.Tyr368Ser) | |
| 12 | g.102843686A= | CA2059446498 | PAH | c.1159T= (p.Tyr387=) c.1144T= (p.Tyr382=) n.918T= n.821T= c.263T= n.674T= c.1102T= (p.Tyr368=) | |
| 12 | g.102843686A>C | CA16020952 | PAH | c.1159T>G (p.Tyr387Asp) c.1144T>G (p.Tyr382Asp) n.918T>G n.821T>G c.263T>G n.674T>G c.1102T>G (p.Tyr368Asp) | ClinVar dbSNP |
| 12 | g.102843686A>G | CA229363 | PAH | c.1159T>C (p.Tyr387His) c.1144T>C (p.Tyr382His) n.918T>C n.821T>C c.263T>C n.674T>C c.1102T>C (p.Tyr368His) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102843686A>T | CA386493197 | PAH | c.1159T>A (p.Tyr387Asn) c.1144T>A (p.Tyr382Asn) n.918T>A n.821T>A c.263T>A n.674T>A c.1102T>A (p.Tyr368Asn) | |
| 12 | g.102843687A>C | CA386493198 | PAH | c.1158T>G (p.Tyr386Ter) c.1143T>G (p.Tyr381Ter) n.917T>G n.820T>G c.262T>G n.673T>G c.1101T>G (p.Tyr367Ter) | |
| 12 | g.102843687A>G | CA481375630 | PAH | c.1158T>C (p.Tyr386=) c.1143T>C (p.Tyr381=) n.917T>C n.820T>C c.262T>C n.673T>C c.1101T>C (p.Tyr367=) | ClinVar dbSNP |
| 12 | g.102843687A>T | CA386493199 | PAH | c.1158T>A (p.Tyr386Ter) c.1143T>A (p.Tyr381Ter) n.917T>A n.820T>A c.262T>A n.673T>A c.1101T>A (p.Tyr367Ter) | |
| 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) | ClinVar 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 |