UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.102840483G>A | CA386493064 | PAH | c.1232C>T (p.Ser411Leu) c.1217C>T (p.Ser406Leu) n.894C>T c.336C>T n.747C>T c.1175C>T (p.Ser392Leu) | |
| 12 | g.102840483G>C | CA16020974 | PAH | c.1232C>G (p.Ser411Ter) c.1217C>G (p.Ser406Ter) n.894C>G c.336C>G n.747C>G c.1175C>G (p.Ser392Ter) | ClinVar |
| 12 | g.102840483G= | CA2059441893 | PAH | c.1232C= (p.Ser411=) c.1217C= (p.Ser406=) n.894C= c.336C= n.747C= c.1175C= (p.Ser392=) | |
| 12 | g.102840483G>T | CA229409 | PAH | c.1232C>A (p.Ser411Ter) c.1217C>A (p.Ser406Ter) n.894C>A c.336C>A n.747C>A c.1175C>A (p.Ser392Ter) | ClinVar dbSNP |
| 12 | g.102840484A>C | CA386493065 | PAH | c.1231T>G (p.Ser411Ala) c.1216T>G (p.Ser406Ala) n.893T>G c.335T>G n.746T>G c.1174T>G (p.Ser392Ala) | |
| 12 | g.102840484A>G | CA386493066 | PAH | c.1231T>C (p.Ser411Pro) c.1216T>C (p.Ser406Pro) n.893T>C c.335T>C n.746T>C c.1174T>C (p.Ser392Pro) | |
| 12 | g.102840484A>T | CA386493067 | PAH | c.1231T>A (p.Ser411Thr) c.1216T>A (p.Ser406Thr) n.893T>A c.335T>A n.746T>A c.1174T>A (p.Ser392Thr) | |
| 12 | g.102840485G>A | CA481375378 | PAH | c.1230C>T (p.Phe410=) c.1215C>T (p.Phe405=) n.892C>T c.334C>T n.745C>T c.1173C>T (p.Phe391=) | |
| 12 | g.102840485G>C | CA386493068 | PAH | c.1230C>G (p.Phe410Leu) c.1215C>G (p.Phe405Leu) n.892C>G c.334C>G n.745C>G c.1173C>G (p.Phe391Leu) | |
| 12 | g.102840485G>T | CA386493069 | PAH | c.1230C>A (p.Phe410Leu) c.1215C>A (p.Phe405Leu) n.892C>A c.334C>A n.745C>A c.1173C>A (p.Phe391Leu) | |
| 12 | g.102840486A= | CA2059441912 | PAH | c.1229T= (p.Phe410=) c.1214T= (p.Phe405=) n.891T= c.333T= n.744T= c.1172T= (p.Phe391=) | |
| 12 | g.102840486A>C | CA229406 | PAH | c.1229T>G (p.Phe410Cys) c.1214T>G (p.Phe405Cys) n.891T>G c.333T>G n.744T>G c.1172T>G (p.Phe391Cys) | ClinVar dbSNP |
| 12 | g.102840486A>G | CA229405 | PAH | c.1229T>C (p.Phe410Ser) c.1214T>C (p.Phe405Ser) n.891T>C c.333T>C n.744T>C c.1172T>C (p.Phe391Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102840486A>T | CA386493070 | PAH | c.1229T>A (p.Phe410Tyr) c.1214T>A (p.Phe405Tyr) n.891T>A c.333T>A n.744T>A c.1172T>A (p.Phe391Tyr) | |
| 12 | g.102840487A= | CA2059441923 | PAH | c.1228T= (p.Phe410=) c.1213T= (p.Phe405=) n.890T= c.332T= n.743T= c.1171T= (p.Phe391=) | |
| 12 | g.102840487A>C | CA386493071 | PAH | c.1228T>G (p.Phe410Val) c.1213T>G (p.Phe405Val) n.890T>G c.332T>G n.743T>G c.1171T>G (p.Phe391Val) | |
| 12 | g.102840487A>G | CA386493072 | PAH | c.1228T>C (p.Phe410Leu) c.1213T>C (p.Phe405Leu) n.890T>C c.332T>C n.743T>C c.1171T>C (p.Phe391Leu) | |
| 12 | g.102840487A>T | CA16020973 | PAH | c.1228T>A (p.Phe410Ile) c.1213T>A (p.Phe405Ile) n.890T>A c.332T>A n.743T>A c.1171T>A (p.Phe391Ile) | ClinVar dbSNP COSMIC |
| 12 | g.102840488G>A | CA481375379 | PAH | c.1227C>T (p.Pro409=) c.1212C>T (p.Pro404=) n.889C>T c.331C>T n.742C>T c.1170C>T (p.Pro390=) | |
| 12 | g.102840488G>C | CA481375380 | PAH | c.1227C>G (p.Pro409=) c.1212C>G (p.Pro404=) n.889C>G c.331C>G n.742C>G c.1170C>G (p.Pro390=) | |
| 12 | g.102840488G>T | CA481375381 | PAH | c.1227C>A (p.Pro409=) c.1212C>A (p.Pro404=) n.889C>A c.331C>A n.742C>A c.1170C>A (p.Pro390=) | |
| 12 | g.102840489G>A | CA386493073 | PAH | c.1226C>T (p.Pro409Leu) c.1211C>T (p.Pro404Leu) n.888C>T c.330C>T n.741C>T c.1169C>T (p.Pro390Leu) | gnomAD v4 |
| 12 | g.102840489G>C | CA386493075 | PAH | c.1226C>G (p.Pro409Arg) c.1211C>G (p.Pro404Arg) n.888C>G c.330C>G n.741C>G c.1169C>G (p.Pro390Arg) | gnomAD v4 |
| 12 | g.102840489G>T | CA386493074 | PAH | c.1226C>A (p.Pro409His) c.1211C>A (p.Pro404His) n.888C>A c.330C>A n.741C>A c.1169C>A (p.Pro390His) | COSMIC |
| 12 | g.102840490G>A | CA386493076 | PAH | c.1225C>T (p.Pro409Ser) c.1210C>T (p.Pro404Ser) n.887C>T c.329C>T n.740C>T c.1168C>T (p.Pro390Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.102840490G>C | CA386493077 | PAH | c.1225C>G (p.Pro409Ala) c.1210C>G (p.Pro404Ala) n.887C>G c.329C>G n.740C>G c.1168C>G (p.Pro390Ala) | |
| 12 | g.102840490G= | CA2059441932 | PAH | c.1225C= (p.Pro409=) c.1210C= (p.Pro404=) n.887C= c.329C= n.740C= c.1168C= (p.Pro390=) | |
| 12 | g.102840490G>T | CA386493078 | PAH | c.1225C>A (p.Pro409Thr) c.1210C>A (p.Pro404Thr) n.887C>A c.329C>A n.740C>A c.1168C>A (p.Pro390Thr) | COSMIC |
| 12 | g.102840491C>A | CA481375382 | PAH | c.1224G>T (p.Arg408=) c.1209G>T (p.Arg403=) n.886G>T c.328G>T n.739G>T c.1167G>T (p.Arg389=) | |
| 12 | g.102840491C>G | CA481375384 | PAH | c.1224G>C (p.Arg408=) c.1209G>C (p.Arg403=) n.886G>C c.328G>C n.739G>C c.1167G>C (p.Arg389=) | |
| 12 | g.102840491C>T | CA481375383 | PAH | c.1224G>A (p.Arg408=) c.1209G>A (p.Arg403=) n.886G>A c.328G>A n.739G>A c.1167G>A (p.Arg389=) | |
| 12 | g.102840492C>A | CA386493079 | PAH | c.1223G>T (p.Arg408Leu) c.1208G>T (p.Arg403Leu) n.885G>T c.327G>T n.738G>T c.1166G>T (p.Arg389Leu) | COSMIC |
| 12 | g.102840492C= | CA2059441935 | PAH | c.1223G= (p.Arg408=) c.1208G= (p.Arg403=) n.885G= c.327G= n.738G= c.1166G= (p.Arg389=) | |
| 12 | g.102840492C>G | CA386493080 | PAH | c.1223G>C (p.Arg408Pro) c.1208G>C (p.Arg403Pro) n.885G>C c.327G>C n.738G>C c.1166G>C (p.Arg389Pro) | |
| 12 | g.102840492C>T | CA229404 | PAH | c.1223G>A (p.Arg408Gln) c.1208G>A (p.Arg403Gln) n.885G>A c.327G>A n.738G>A c.1166G>A (p.Arg389Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840493del | CA16020972 | PAH | c.1222del (p.Arg408GlyfsTer?) c.1207del (p.Arg403GlyfsTer?) n.884del c.326del n.737del c.1165del (p.Arg389GlyfsTer?) | |
| 12 | g.102840493G>A | CA251523 | PAH | c.1222C>T (p.Arg408Trp) c.1207C>T (p.Arg403Trp) n.884C>T c.326C>T n.737C>T c.1165C>T (p.Arg389Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840493G>C | CA386493081 | PAH | c.1222C>G (p.Arg408Gly) c.1207C>G (p.Arg403Gly) n.884C>G c.326C>G n.737C>G c.1165C>G (p.Arg389Gly) | |
| 12 | g.102840493G= | CA2059441944 | PAH | c.1222C= (p.Arg408=) c.1207C= (p.Arg403=) n.884C= c.326C= n.737C= c.1165C= (p.Arg389=) | |
| 12 | g.102840493G>T | CA481375385 | PAH | c.1222C>A (p.Arg408=) c.1207C>A (p.Arg403=) n.884C>A c.326C>A n.737C>A c.1165C>A (p.Arg389=) | |
| 12 | g.102840494A>C | CA481375386 | PAH | c.1221T>G (p.Pro407=) c.1206T>G (p.Pro402=) n.883T>G c.325T>G n.736T>G c.1164T>G (p.Pro388=) | ClinVar |
| 12 | g.102840494A>G | CA481375387 | PAH | c.1221T>C (p.Pro407=) c.1206T>C (p.Pro402=) n.883T>C c.325T>C n.736T>C c.1164T>C (p.Pro388=) | gnomAD v4 |
| 12 | g.102840494A>T | CA481375388 | PAH | c.1221T>A (p.Pro407=) c.1206T>A (p.Pro402=) n.883T>A c.325T>A n.736T>A c.1164T>A (p.Pro388=) | gnomAD v4 |
| 12 | g.102840494_102840495delinsAG | CA2059441948 | PAH | c.1220_1221delinsCT (p.Pro407=) c.1205_1206delinsCT (p.Pro402=) n.882_883delinsCT c.324_325delinsCT n.735_736delinsCT c.1163_1164delinsCT (p.Pro388=) | |
| 12 | g.102840495G>A | CA229402 | PAH | c.1220C>T (p.Pro407Leu) c.1205C>T (p.Pro402Leu) n.882C>T c.324C>T n.735C>T c.1163C>T (p.Pro388Leu) | ClinVar dbSNP |
| 12 | g.102840495G>C | CA386493082 | PAH | c.1220C>G (p.Pro407Arg) c.1205C>G (p.Pro402Arg) n.882C>G c.324C>G n.735C>G c.1163C>G (p.Pro388Arg) | |
| 12 | g.102840495G= | CA2059441966 | PAH | c.1220C= (p.Pro407=) c.1205C= (p.Pro402=) n.882C= c.324C= n.735C= c.1163C= (p.Pro388=) | |
| 12 | g.102840495G>T | CA386493083 | PAH | c.1220C>A (p.Pro407His) c.1205C>A (p.Pro402His) n.882C>A c.324C>A n.735C>A c.1163C>A (p.Pro388His) | |
| 12 | g.102840496del | CA229403 | PAH | c.1220del (p.Pro407LeufsTer?) c.1205del (p.Pro402LeufsTer?) n.882del c.324del n.735del c.1163del (p.Pro388LeufsTer?) | ClinVar dbSNP |
| 12 | g.102840495_102840499del | CA2695217221 | PAH | c.1216_1220del (p.Ile406SerfsTer15) c.1201_1205del (p.Ile401SerfsTer15) n.878_882del c.320_324del n.731_735del c.1159_1163del (p.Ile387SerfsTer15) |