| 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.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=) | |
| 12 | g.102843699G>T | CA386493220 | PAH | c.1146C>A (p.Phe382Leu) c.1131C>A (p.Phe377Leu) n.905C>A n.808C>A c.250C>A n.661C>A c.1089C>A (p.Phe363Leu) | gnomAD v4 |
| 12 | g.102843700A>C | CA386493221 | PAH | c.1145T>G (p.Phe382Cys) c.1130T>G (p.Phe377Cys) n.904T>G n.807T>G c.249T>G n.660T>G c.1088T>G (p.Phe363Cys) | |
| 12 | g.102843700A>G | CA386493222 | PAH | c.1145T>C (p.Phe382Ser) c.1130T>C (p.Phe377Ser) n.904T>C n.807T>C c.249T>C n.660T>C c.1088T>C (p.Phe363Ser) | |
| 12 | g.102843700A>T | CA386493223 | PAH | c.1145T>A (p.Phe382Tyr) c.1130T>A (p.Phe377Tyr) n.904T>A n.807T>A c.249T>A n.660T>A c.1088T>A (p.Phe363Tyr) | |
| 12 | g.102843701A= | CA2059446565 | PAH | c.1144T= (p.Phe382=) c.1129T= (p.Phe377=) n.903T= n.806T= c.248T= n.659T= c.1087T= (p.Phe363=) | |
| 12 | g.102843701A>C | CA386493224 | PAH | c.1144T>G (p.Phe382Val) c.1129T>G (p.Phe377Val) n.903T>G n.806T>G c.248T>G n.659T>G c.1087T>G (p.Phe363Val) | |
| 12 | g.102843701A>G | CA386493225 | PAH | c.1144T>C (p.Phe382Leu) c.1129T>C (p.Phe377Leu) n.903T>C n.806T>C c.248T>C n.659T>C c.1087T>C (p.Phe363Leu) | ClinVar dbSNP |
| 12 | g.102843701A>T | CA386493226 | PAH | c.1144T>A (p.Phe382Ile) c.1129T>A (p.Phe377Ile) n.903T>A n.806T>A c.248T>A n.659T>A c.1087T>A (p.Phe363Ile) | |
| 12 | g.102843702C>A | CA386493227 | PAH | c.1143G>T (p.Glu381Asp) c.1128G>T (p.Glu376Asp) n.902G>T n.805G>T c.247G>T n.658G>T c.1086G>T (p.Glu362Asp) | |
| 12 | g.102843702C>G | CA386493228 | PAH | c.1143G>C (p.Glu381Asp) c.1128G>C (p.Glu376Asp) n.902G>C n.805G>C c.247G>C n.658G>C c.1086G>C (p.Glu362Asp) | |
| 12 | g.102843702C>T | CA481375636 | PAH | c.1143G>A (p.Glu381=) c.1128G>A (p.Glu376=) n.902G>A n.805G>A c.247G>A n.658G>A c.1086G>A (p.Glu362=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.102843703T>A | CA386493231 | PAH | c.1142A>T (p.Glu381Val) c.1127A>T (p.Glu376Val) n.901A>T n.804A>T c.246A>T n.657A>T c.1085A>T (p.Glu362Val) | |
| 12 | g.102843703T>C | CA386493229 | PAH | c.1142A>G (p.Glu381Gly) c.1127A>G (p.Glu376Gly) n.901A>G n.804A>G c.246A>G n.657A>G c.1085A>G (p.Glu362Gly) | |
| 12 | g.102843703T>G | CA386493230 | PAH | c.1142A>C (p.Glu381Ala) c.1127A>C (p.Glu376Ala) n.901A>C n.804A>C c.246A>C n.657A>C c.1085A>C (p.Glu362Ala) | |
| 12 | g.102843704C>A | CA386493232 | PAH | c.1141G>T (p.Glu381Ter) c.1126G>T (p.Glu376Ter) n.900G>T n.803G>T c.245G>T n.656G>T c.1084G>T (p.Glu362Ter) | |
| 12 | g.102843704C= | CA2059446567 | PAH | c.1141G= (p.Glu381=) c.1126G= (p.Glu376=) n.900G= n.803G= c.245G= n.656G= c.1084G= (p.Glu362=) | |
| 12 | g.102843704C>G | CA386493233 | PAH | c.1141G>C (p.Glu381Gln) c.1126G>C (p.Glu376Gln) n.900G>C n.803G>C c.245G>C n.656G>C c.1084G>C (p.Glu362Gln) | |
| 12 | g.102843704C>T | CA242744229 | PAH | c.1141G>A (p.Glu381Lys) c.1126G>A (p.Glu376Lys) n.900G>A n.803G>A c.245G>A n.656G>A c.1084G>A (p.Glu362Lys) | dbSNP COSMIC |
| 12 | g.102843705C>A | CA6748736 | PAH | c.1140G>T (p.Thr380=) c.1125G>T (p.Thr375=) n.899G>T n.802G>T c.244G>T n.655G>T c.1083G>T (p.Thr361=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843705C= | CA2059446573 | PAH | c.1140G= (p.Thr380=) c.1125G= (p.Thr375=) n.899G= n.802G= c.244G= n.655G= c.1083G= (p.Thr361=) | |
| 12 | g.102843705C>G | CA481375637 | PAH | c.1140G>C (p.Thr380=) c.1125G>C (p.Thr375=) n.899G>C n.802G>C c.244G>C n.655G>C c.1083G>C (p.Thr361=) | |
| 12 | g.102843705C>T | CA6748735 | PAH | c.1140G>A (p.Thr380=) c.1125G>A (p.Thr375=) n.899G>A n.802G>A c.244G>A n.655G>A c.1083G>A (p.Thr361=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843706G>A | CA114369 | PAH | c.1139C>T (p.Thr380Met) c.1124C>T (p.Thr375Met) n.898C>T n.801C>T c.243C>T n.654C>T c.1082C>T (p.Thr361Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102843706G>C | CA386493234 | PAH | c.1139C>G (p.Thr380Arg) c.1124C>G (p.Thr375Arg) n.898C>G n.801C>G c.243C>G n.654C>G c.1082C>G (p.Thr361Arg) | |
| 12 | g.102843706G= | CA2059446579 | PAH | c.1139C= (p.Thr380=) c.1124C= (p.Thr375=) n.898C= n.801C= c.243C= n.654C= c.1082C= (p.Thr361=) | |
| 12 | g.102843706G>T | CA386493235 | PAH | c.1139C>A (p.Thr380Lys) c.1124C>A (p.Thr375Lys) n.898C>A n.801C>A c.243C>A n.654C>A c.1082C>A (p.Thr361Lys) | |
| 12 | g.102843707_102843708del | CA16020947 | PAH | c.1138_1139del (p.Thr380GlyfsTer13) c.1123_1124del (p.Thr375GlyfsTer13) n.897_898del n.800_801del c.242_243del n.653_654del c.1081_1082del (p.Thr361GlyfsTer13) | |
| 12 | g.102843707del | CA2695217225 | PAH | c.1138del (p.Thr380ArgfsTer20) c.1123del (p.Thr375ArgfsTer20) n.897del n.800del c.242del n.653del c.1081del (p.Thr361ArgfsTer20) | |
| 12 | g.102843707T>A | CA386493236 | PAH | c.1138A>T (p.Thr380Ser) c.1123A>T (p.Thr375Ser) n.897A>T n.800A>T c.242A>T n.653A>T c.1081A>T (p.Thr361Ser) | |
| 12 | g.102843707T>C | CA386493237 | PAH | c.1138A>G (p.Thr380Ala) c.1123A>G (p.Thr375Ala) n.897A>G n.800A>G c.242A>G n.653A>G c.1081A>G (p.Thr361Ala) | |
| 12 | g.102843707T>G | CA386493238 | PAH | c.1138A>C (p.Thr380Pro) c.1123A>C (p.Thr375Pro) n.897A>C n.800A>C c.242A>C n.653A>C c.1081A>C (p.Thr361Pro) | |
| 12 | g.102843708G>A | CA481375638 | PAH | c.1137C>T (p.Val379=) c.1122C>T (p.Val374=) n.896C>T n.799C>T c.241C>T n.652C>T c.1080C>T (p.Val360=) | gnomAD v4 |
| 12 | g.102843708G>C | CA6748737 | PAH | c.1137C>G (p.Val379=) c.1122C>G (p.Val374=) n.896C>G n.799C>G c.241C>G n.652C>G c.1080C>G (p.Val360=) | dbSNP ExAC gnomAD v2 |
| 12 | g.102843708G= | CA2059446587 | PAH | c.1137C= (p.Val379=) c.1122C= (p.Val374=) n.896C= n.799C= c.241C= n.652C= c.1080C= (p.Val360=) | |
| 12 | g.102843708G>T | CA481375639 | PAH | c.1137C>A (p.Val379=) c.1122C>A (p.Val374=) n.896C>A n.799C>A c.241C>A n.652C>A c.1080C>A (p.Val360=) | |
| 12 | g.102843709A= | CA2059446591 | PAH | c.1136T= (p.Val379=) c.1121T= (p.Val374=) n.895T= n.798T= c.240T= n.651T= c.1079T= (p.Val360=) | |
| 12 | g.102843709A>C | CA386493240 | PAH | c.1136T>G (p.Val379Gly) c.1121T>G (p.Val374Gly) n.895T>G n.798T>G c.240T>G n.651T>G c.1079T>G (p.Val360Gly) | |
| 12 | g.102843709A>G | CA6748738 | PAH | c.1136T>C (p.Val379Ala) c.1121T>C (p.Val374Ala) n.895T>C n.798T>C c.240T>C n.651T>C c.1079T>C (p.Val360Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.102843709A>T | CA386493239 | PAH | c.1136T>A (p.Val379Asp) c.1121T>A (p.Val374Asp) n.895T>A n.798T>A c.240T>A n.651T>A c.1079T>A (p.Val360Asp) | |
| 12 | g.102843710C>A | CA386493241 | PAH | c.1135G>T (p.Val379Phe) c.1120G>T (p.Val374Phe) n.894G>T n.797G>T c.239G>T n.650G>T c.1078G>T (p.Val360Phe) | |
| 12 | g.102843710C= | CA2059446594 | PAH | c.1135G= (p.Val379=) c.1120G= (p.Val374=) n.894G= n.797G= c.239G= n.650G= c.1078G= (p.Val360=) | |
| 12 | g.102843710C>G | CA6748739 | PAH | c.1135G>C (p.Val379Leu) c.1120G>C (p.Val374Leu) n.894G>C n.797G>C c.239G>C n.650G>C c.1078G>C (p.Val360Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |