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.102840444A= | CA2059441609 | PAH | c.1271T= (p.Leu424=) c.1256T= (p.Leu419=) n.933T= c.375T= n.786T= c.1214T= (p.Leu405=) | |
| 12 | g.102840444A>C | CA386493005 | PAH | c.1271T>G (p.Leu424Trp) c.1256T>G (p.Leu419Trp) n.933T>G c.375T>G n.786T>G c.1214T>G (p.Leu405Trp) | |
| 12 | g.102840444A>G | CA229424 | PAH | c.1271T>C (p.Leu424Ser) c.1256T>C (p.Leu419Ser) n.933T>C c.375T>C n.786T>C c.1214T>C (p.Leu405Ser) | ClinVar dbSNP |
| 12 | g.102840444A>T | CA16020988 | PAH | c.1271T>A (p.Leu424Ter) c.1256T>A (p.Leu419Ter) n.933T>A c.375T>A n.786T>A c.1214T>A (p.Leu405Ter) | ClinVar dbSNP |
| 12 | g.102840445A= | CA2059441621 | PAH | c.1270T= (p.Leu424=) c.1255T= (p.Leu419=) n.932T= c.374T= n.785T= c.1213T= (p.Leu405=) | |
| 12 | g.102840445A>C | CA386493006 | PAH | c.1270T>G (p.Leu424Val) c.1255T>G (p.Leu419Val) n.932T>G c.374T>G n.785T>G c.1213T>G (p.Leu405Val) | dbSNP gnomAD v4 |
| 12 | g.102840445A>G | CA242743432 | PAH | c.1270T>C (p.Leu424=) c.1255T>C (p.Leu419=) n.932T>C c.374T>C n.785T>C c.1213T>C (p.Leu405=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840445A>T | CA386493007 | PAH | c.1270T>A (p.Leu424Met) c.1255T>A (p.Leu419Met) n.932T>A c.374T>A n.785T>A c.1213T>A (p.Leu405Met) | |
| 12 | g.102840446del | CA16020987 | PAH | c.1269del (p.Leu424TrpfsTer28) c.1254del (p.Leu419TrpfsTer28) n.931del c.373del n.784del c.1212del (p.Leu405TrpfsTer28) | |
| 12 | g.102840446G>A | CA481375350 | PAH | c.1269C>T (p.Val423=) c.1254C>T (p.Val418=) n.931C>T c.373C>T n.784C>T c.1212C>T (p.Val404=) | |
| 12 | g.102840446G>C | CA481375351 | PAH | c.1269C>G (p.Val423=) c.1254C>G (p.Val418=) n.931C>G c.373C>G n.784C>G c.1212C>G (p.Val404=) | |
| 12 | g.102840446G>T | CA481375352 | PAH | c.1269C>A (p.Val423=) c.1254C>A (p.Val418=) n.931C>A c.373C>A n.784C>A c.1212C>A (p.Val404=) | |
| 12 | g.102840447A>C | CA386493008 | PAH | c.1268T>G (p.Val423Gly) c.1253T>G (p.Val418Gly) n.930T>G c.372T>G n.783T>G c.1211T>G (p.Val404Gly) | |
| 12 | g.102840447A>G | CA386493009 | PAH | c.1268T>C (p.Val423Ala) c.1253T>C (p.Val418Ala) n.930T>C c.372T>C n.783T>C c.1211T>C (p.Val404Ala) | COSMIC |
| 12 | g.102840447A>T | CA386493010 | PAH | c.1268T>A (p.Val423Asp) c.1253T>A (p.Val418Asp) n.930T>A c.372T>A n.783T>A c.1211T>A (p.Val404Asp) | |
| 12 | g.102840448C>A | CA386493013 | PAH | c.1267G>T (p.Val423Phe) c.1252G>T (p.Val418Phe) n.929G>T c.371G>T n.782G>T c.1210G>T (p.Val404Phe) | |
| 12 | g.102840448C= | CA2059441631 | PAH | c.1267G= (p.Val423=) c.1252G= (p.Val418=) n.929G= c.371G= n.782G= c.1210G= (p.Val404=) | |
| 12 | g.102840448C>G | CA386493012 | PAH | c.1267G>C (p.Val423Leu) c.1252G>C (p.Val418Leu) n.929G>C c.371G>C n.782G>C c.1210G>C (p.Val404Leu) | |
| 12 | g.102840448C>T | CA386493011 | PAH | c.1267G>A (p.Val423Ile) c.1252G>A (p.Val418Ile) n.929G>A c.371G>A n.782G>A c.1210G>A (p.Val404Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840449C>A | CA386493014 | PAH | c.1266G>T (p.Glu422Asp) c.1251G>T (p.Glu417Asp) n.928G>T c.370G>T n.781G>T c.1209G>T (p.Glu403Asp) | |
| 12 | g.102840449C>G | CA386493015 | PAH | c.1266G>C (p.Glu422Asp) c.1251G>C (p.Glu417Asp) n.928G>C c.370G>C n.781G>C c.1209G>C (p.Glu403Asp) | |
| 12 | g.102840449C>T | CA481375355 | PAH | c.1266G>A (p.Glu422=) c.1251G>A (p.Glu417=) n.928G>A c.370G>A n.781G>A c.1209G>A (p.Glu403=) | ClinVar |
| 12 | g.102840450T>A | CA386493016 | PAH | c.1265A>T (p.Glu422Val) c.1250A>T (p.Glu417Val) n.927A>T c.369A>T n.780A>T c.1208A>T (p.Glu403Val) | |
| 12 | g.102840450T>C | CA386493017 | PAH | c.1265A>G (p.Glu422Gly) c.1250A>G (p.Glu417Gly) n.927A>G c.369A>G n.780A>G c.1208A>G (p.Glu403Gly) | |
| 12 | g.102840450T>G | CA386493018 | PAH | c.1265A>C (p.Glu422Ala) c.1250A>C (p.Glu417Ala) n.927A>C c.369A>C n.780A>C c.1208A>C (p.Glu403Ala) | dbSNP |
| 12 | g.102840450T= | CA2059441633 | PAH | c.1265A= (p.Glu422=) c.1250A= (p.Glu417=) n.927A= c.369A= n.780A= c.1208A= (p.Glu403=) | |
| 12 | g.102840451C>A | CA386493019 | PAH | c.1264G>T (p.Glu422Ter) c.1249G>T (p.Glu417Ter) n.926G>T c.368G>T n.779G>T c.1207G>T (p.Glu403Ter) | |
| 12 | g.102840451C= | CA2059441640 | PAH | c.1264G= (p.Glu422=) c.1249G= (p.Glu417=) n.926G= c.368G= n.779G= c.1207G= (p.Glu403=) | |
| 12 | g.102840451C>G | CA386493020 | PAH | c.1264G>C (p.Glu422Gln) c.1249G>C (p.Glu417Gln) n.926G>C c.368G>C n.779G>C c.1207G>C (p.Glu403Gln) | |
| 12 | g.102840451C>T | CA229422 | PAH | c.1264G>A (p.Glu422Lys) c.1249G>A (p.Glu417Lys) n.926G>A c.368G>A n.779G>A c.1207G>A (p.Glu403Lys) | ClinVar dbSNP |
| 12 | g.102840452A>C | CA386493021 | PAH | c.1263T>G (p.Ile421Met) c.1248T>G (p.Ile416Met) n.925T>G c.367T>G n.778T>G c.1206T>G (p.Ile402Met) | |
| 12 | g.102840452A>G | CA481375357 | PAH | c.1263T>C (p.Ile421=) c.1248T>C (p.Ile416=) n.925T>C c.367T>C n.778T>C c.1206T>C (p.Ile402=) | |
| 12 | g.102840452A>T | CA481375358 | PAH | c.1263T>A (p.Ile421=) c.1248T>A (p.Ile416=) n.925T>A c.367T>A n.778T>A c.1206T>A (p.Ile402=) | |
| 12 | g.102840453A= | CA2059441646 | PAH | c.1262T= (p.Ile421=) c.1247T= (p.Ile416=) n.924T= c.366T= n.777T= c.1205T= (p.Ile402=) | |
| 12 | g.102840453A>C | CA16020986 | PAH | c.1262T>G (p.Ile421Ser) c.1247T>G (p.Ile416Ser) n.924T>G c.366T>G n.777T>G c.1205T>G (p.Ile402Ser) | ClinVar dbSNP |
| 12 | g.102840453A>G | CA229420 | PAH | c.1262T>C (p.Ile421Thr) c.1247T>C (p.Ile416Thr) n.924T>C c.366T>C n.777T>C c.1205T>C (p.Ile402Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.102840453A>T | CA386493022 | PAH | c.1262T>A (p.Ile421Asn) c.1247T>A (p.Ile416Asn) n.924T>A c.366T>A n.777T>A c.1205T>A (p.Ile402Asn) | |
| 12 | g.102840454T>A | CA386493023 | PAH | c.1261A>T (p.Ile421Phe) c.1246A>T (p.Ile416Phe) n.923A>T c.365A>T n.776A>T c.1204A>T (p.Ile402Phe) | |
| 12 | g.102840454T>C | CA386493024 | PAH | c.1261A>G (p.Ile421Val) c.1246A>G (p.Ile416Val) n.923A>G c.365A>G n.776A>G c.1204A>G (p.Ile402Val) | |
| 12 | g.102840454T>G | CA386493025 | PAH | c.1261A>C (p.Ile421Leu) c.1246A>C (p.Ile416Leu) n.923A>C c.365A>C n.776A>C c.1204A>C (p.Ile402Leu) | |
| 12 | g.102840455C>A | CA386493027 | PAH | c.1260G>T (p.Arg420Ser) c.1245G>T (p.Arg415Ser) n.922G>T c.364G>T n.775G>T c.1203G>T (p.Arg401Ser) | |
| 12 | g.102840455C>G | CA386493026 | PAH | c.1260G>C (p.Arg420Ser) c.1245G>C (p.Arg415Ser) n.922G>C c.364G>C n.775G>C c.1203G>C (p.Arg401Ser) | |
| 12 | g.102840455C>T | CA481375359 | PAH | c.1260G>A (p.Arg420=) c.1245G>A (p.Arg415=) n.922G>A c.364G>A n.775G>A c.1203G>A (p.Arg401=) | |
| 12 | g.102840456C>A | CA6748704 | PAH | c.1259G>T (p.Arg420Met) c.1244G>T (p.Arg415Met) n.921G>T c.363G>T n.774G>T c.1202G>T (p.Arg401Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840456C= | CA2059441654 | PAH | c.1259G= (p.Arg420=) c.1244G= (p.Arg415=) n.921G= c.363G= n.774G= c.1202G= (p.Arg401=) | |
| 12 | g.102840456C>G | CA242743437 | PAH | c.1259G>C (p.Arg420Thr) c.1244G>C (p.Arg415Thr) n.921G>C c.363G>C n.774G>C c.1202G>C (p.Arg401Thr) | ClinVar dbSNP gnomAD v4 |
| 12 | g.102840456C>T | CA386493028 | PAH | c.1259G>A (p.Arg420Lys) c.1244G>A (p.Arg415Lys) n.921G>A c.363G>A n.774G>A c.1202G>A (p.Arg401Lys) | COSMIC |
| 12 | g.102840457T>A | CA386493029 | PAH | c.1258A>T (p.Arg420Trp) c.1243A>T (p.Arg415Trp) n.920A>T c.362A>T n.773A>T c.1201A>T (p.Arg401Trp) | |
| 12 | g.102840457T>C | CA386493030 | PAH | c.1258A>G (p.Arg420Gly) c.1243A>G (p.Arg415Gly) n.920A>G c.362A>G n.773A>G c.1201A>G (p.Arg401Gly) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.102840457T>G | CA481375360 | PAH | c.1258A>C (p.Arg420=) c.1243A>C (p.Arg415=) n.920A>C c.362A>C n.773A>C c.1201A>C (p.Arg401=) |