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 |
|---|---|---|---|---|---|
| 4 | g.184629432T>A | CA359104985 | CASP3 | c.674A>T (p.Gln225Leu) n.2277A>T n.3639A>T c.*423A>T (n.*423A>T) c.*4A>T (n.*4A>T) c.*107A>T (n.*107A>T) c.596A>T (p.Gln199Leu) | |
| 4 | g.184629432T>C | CA3153961 | CASP3 | c.674A>G (p.Gln225Arg) n.2277A>G n.3639A>G c.*423A>G (n.*423A>G) c.*4A>G (n.*4A>G) c.*107A>G (n.*107A>G) c.596A>G (p.Gln199Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.184629432T>G | CA359104986 | CASP3 | c.674A>C (p.Gln225Pro) n.2277A>C n.3639A>C c.*423A>C (n.*423A>C) c.*4A>C (n.*4A>C) c.*107A>C (n.*107A>C) c.596A>C (p.Gln199Pro) | |
| 4 | g.184629432T= | CA1519175668 | CASP3 | c.674A= (p.Gln225=) n.2277A= n.3639A= c.*423A= (n.*423A=) c.*4A= (n.*4A=) c.*107A= (n.*107A=) c.596A= (p.Gln199=) | |
| 4 | g.184629433G>A | CA359104987 | CASP3 | c.673C>T (p.Gln225Ter) n.2276C>T n.3638C>T c.*422C>T (n.*422C>T) c.*3C>T (n.*3C>T) c.*106C>T (n.*106C>T) c.595C>T (p.Gln199Ter) | |
| 4 | g.184629433G>C | CA359104988 | CASP3 | c.673C>G (p.Gln225Glu) n.2276C>G n.3638C>G c.*422C>G (n.*422C>G) c.*3C>G (n.*3C>G) c.*106C>G (n.*106C>G) c.595C>G (p.Gln199Glu) | |
| 4 | g.184629433G>T | CA359104989 | CASP3 | c.673C>A (p.Gln225Lys) n.2276C>A n.3638C>A c.*422C>A (n.*422C>A) c.*3C>A (n.*3C>A) c.*106C>A (n.*106C>A) c.595C>A (p.Gln199Lys) | |
| 4 | g.184629434T>A | CA359104990 | CASP3 | c.672A>T (p.Lys224Asn) n.2275A>T n.3637A>T c.*421A>T (n.*421A>T) c.*2A>T (n.*2A>T) c.*105A>T (n.*105A>T) c.594A>T (p.Lys198Asn) | |
| 4 | g.184629434T>C | CA442736532 | CASP3 | c.672A>G (p.Lys224=) n.2275A>G n.3637A>G c.*421A>G (n.*421A>G) c.*2A>G (n.*2A>G) c.*105A>G (n.*105A>G) c.594A>G (p.Lys198=) | |
| 4 | g.184629434T>G | CA359104991 | CASP3 | c.672A>C (p.Lys224Asn) n.2275A>C n.3637A>C c.*421A>C (n.*421A>C) c.*2A>C (n.*2A>C) c.*105A>C (n.*105A>C) c.594A>C (p.Lys198Asn) | |
| 4 | g.184629435T>A | CA359104992 | CASP3 | c.671A>T (p.Lys224Ile) n.2274A>T n.3636A>T c.*420A>T (n.*420A>T) c.*1A>T (n.*1A>T) c.*104A>T (n.*104A>T) c.593A>T (p.Lys198Ile) | |
| 4 | g.184629435T>C | CA359104994 | CASP3 | c.671A>G (p.Lys224Arg) n.2274A>G n.3636A>G c.*420A>G (n.*420A>G) c.*1A>G (n.*1A>G) c.*104A>G (n.*104A>G) c.593A>G (p.Lys198Arg) | |
| 4 | g.184629435T>G | CA359104993 | CASP3 | c.671A>C (p.Lys224Thr) n.2274A>C n.3636A>C c.*420A>C (n.*420A>C) c.*1A>C (n.*1A>C) c.*104A>C (n.*104A>C) c.593A>C (p.Lys198Thr) | |
| 4 | g.184629436T>A | CA359104995 | CASP3 | c.670A>T (p.Lys224Ter) n.2273A>T n.3635A>T c.*419A>T (n.*419A>T) c.549A>T (p.Ter183Cys) c.*103A>T (n.*103A>T) c.592A>T (p.Lys198Ter) c.576A>T (p.Ter192Cys) c.471A>T (p.Ter157Cys) | |
| 4 | g.184629436T>C | CA359104997 | CASP3 | c.670A>G (p.Lys224Glu) n.2273A>G n.3635A>G c.*419A>G (n.*419A>G) c.549A>G (p.Ter183Trp) c.*103A>G (n.*103A>G) c.592A>G (p.Lys198Glu) c.576A>G (p.Ter192Trp) c.471A>G (p.Ter157Trp) | ClinVar |
| 4 | g.184629436T>G | CA359104996 | CASP3 | c.670A>C (p.Lys224Gln) n.2273A>C n.3635A>C c.*419A>C (n.*419A>C) c.549A>C (p.Ter183Cys) c.*103A>C (n.*103A>C) c.592A>C (p.Lys198Gln) c.576A>C (p.Ter192Cys) c.471A>C (p.Ter157Cys) | |
| 4 | g.184629437C>A | CA359104998 | CASP3 | c.669G>T (p.Leu223=) n.2272G>T n.3634G>T c.*418G>T (n.*418G>T) c.548G>T (p.Ter183Leu) c.*102G>T (n.*102G>T) c.591G>T (p.Leu197=) c.575G>T (p.Ter192Leu) c.470G>T (p.Ter157Leu) | |
| 4 | g.184629437C>G | CA359104999 | CASP3 | c.669G>C (p.Leu223=) n.2272G>C n.3634G>C c.*418G>C (n.*418G>C) c.548G>C (p.Ter183Ser) c.*102G>C (n.*102G>C) c.591G>C (p.Leu197=) c.575G>C (p.Ter192Ser) c.470G>C (p.Ter157Ser) | |
| 4 | g.184629437C>T | CA442736533 | CASP3 | c.669G>A (p.Leu223=) n.2272G>A n.3634G>A c.*418G>A (n.*418G>A) c.548G>A (p.Ter183=) c.*102G>A (n.*102G>A) c.591G>A (p.Leu197=) c.575G>A (p.Ter192=) c.470G>A (p.Ter157=) | |
| 4 | g.184629438A>C | CA359105000 | CASP3 | c.668T>G (p.Leu223Arg) n.2271T>G n.3633T>G c.*417T>G (n.*417T>G) c.547T>G (p.Ter183Gly) c.*101T>G (n.*101T>G) c.590T>G (p.Leu197Arg) c.574T>G (p.Ter192Gly) c.469T>G (p.Ter157Gly) | |
| 4 | g.184629438A>G | CA359105001 | CASP3 | c.668T>C (p.Leu223Pro) n.2271T>C n.3633T>C c.*417T>C (n.*417T>C) c.547T>C (p.Ter183Arg) c.*101T>C (n.*101T>C) c.590T>C (p.Leu197Pro) c.574T>C (p.Ter192Arg) c.469T>C (p.Ter157Arg) | |
| 4 | g.184629438A>T | CA359105002 | CASP3 | c.668T>A (p.Leu223Gln) n.2271T>A n.3633T>A c.*417T>A (n.*417T>A) c.547T>A (p.Ter183Arg) c.*101T>A (n.*101T>A) c.590T>A (p.Leu197Gln) c.574T>A (p.Ter192Arg) c.469T>A (p.Ter157Arg) | |
| 4 | g.184629439G>A | CA442736534 | CASP3 | c.667C>T (p.Leu223=) n.2270C>T n.3632C>T c.*416C>T (n.*416C>T) c.546C>T (p.Cys182=) c.*100C>T (n.*100C>T) c.589C>T (p.Leu197=) c.573C>T (p.Cys191=) c.468C>T (p.Cys156=) | |
| 4 | g.184629439G>C | CA359105003 | CASP3 | c.667C>G (p.Leu223Val) n.2270C>G n.3632C>G c.*416C>G (n.*416C>G) c.546C>G (p.Cys182Trp) c.*100C>G (n.*100C>G) c.589C>G (p.Leu197Val) c.573C>G (p.Cys191Trp) c.468C>G (p.Cys156Trp) | |
| 4 | g.184629439G>T | CA359105004 | CASP3 | c.667C>A (p.Leu223Met) n.2270C>A n.3632C>A c.*416C>A (n.*416C>A) c.546C>A (p.Cys182Ter) c.*100C>A (n.*100C>A) c.589C>A (p.Leu197Met) c.573C>A (p.Cys191Ter) c.468C>A (p.Cys156Ter) | |
| 4 | g.184629440C>A | CA359105005 | CASP3 | c.666G>T (p.Met222Ile) n.2269G>T n.3631G>T c.*415G>T (n.*415G>T) c.545G>T (p.Cys182Phe) c.*99G>T (n.*99G>T) c.588G>T (p.Met196Ile) c.572G>T (p.Cys191Phe) c.467G>T (p.Cys156Phe) | |
| 4 | g.184629440C= | CA1519175671 | CASP3 | c.666G= (p.Met222=) n.2269G= n.3631G= c.*415G= (n.*415G=) c.545G= (p.Cys182=) c.*99G= (n.*99G=) c.588G= (p.Met196=) c.572G= (p.Cys191=) c.467G= (p.Cys156=) | |
| 4 | g.184629440C>G | CA359105006 | CASP3 | c.666G>C (p.Met222Ile) n.2269G>C n.3631G>C c.*415G>C (n.*415G>C) c.545G>C (p.Cys182Ser) c.*99G>C (n.*99G>C) c.588G>C (p.Met196Ile) c.572G>C (p.Cys191Ser) c.467G>C (p.Cys156Ser) | |
| 4 | g.184629440C>T | CA359105007 | CASP3 | c.666G>A (p.Met222Ile) n.2269G>A n.3631G>A c.*415G>A (n.*415G>A) c.545G>A (p.Cys182Tyr) c.*99G>A (n.*99G>A) c.588G>A (p.Met196Ile) c.572G>A (p.Cys191Tyr) c.467G>A (p.Cys156Tyr) | dbSNP gnomAD v4 |
| 4 | g.184629441A= | CA1519175673 | CASP3 | c.665T= (p.Met222=) n.2268T= n.3630T= c.*414T= (n.*414T=) c.544T= (p.Cys182=) c.*98T= (n.*98T=) c.587T= (p.Met196=) c.571T= (p.Cys191=) c.466T= (p.Cys156=) | |
| 4 | g.184629441A>C | CA359105008 | CASP3 | c.665T>G (p.Met222Arg) n.2268T>G n.3630T>G c.*414T>G (n.*414T>G) c.544T>G (p.Cys182Gly) c.*98T>G (n.*98T>G) c.587T>G (p.Met196Arg) c.571T>G (p.Cys191Gly) c.466T>G (p.Cys156Gly) | |
| 4 | g.184629441A>G | CA359105009 | CASP3 | c.665T>C (p.Met222Thr) n.2268T>C n.3630T>C c.*414T>C (n.*414T>C) c.544T>C (p.Cys182Arg) c.*98T>C (n.*98T>C) c.587T>C (p.Met196Thr) c.571T>C (p.Cys191Arg) c.466T>C (p.Cys156Arg) | dbSNP gnomAD v4 |
| 4 | g.184629441A>T | CA359105010 | CASP3 | c.665T>A (p.Met222Lys) n.2268T>A n.3630T>A c.*414T>A (n.*414T>A) c.544T>A (p.Cys182Ser) c.*98T>A (n.*98T>A) c.587T>A (p.Met196Lys) c.571T>A (p.Cys191Ser) c.466T>A (p.Cys156Ser) | |
| 4 | g.184629442T>A | CA359105011 | CASP3 | c.664A>T (p.Met222Leu) n.2267A>T n.3629A>T c.*413A>T (n.*413A>T) c.543A>T (p.Pro181=) c.*97A>T (n.*97A>T) c.586A>T (p.Met196Leu) c.570A>T (p.Pro190=) c.465A>T (p.Pro155=) | |
| 4 | g.184629442T>C | CA359105013 | CASP3 | c.664A>G (p.Met222Val) n.2267A>G n.3629A>G c.*413A>G (n.*413A>G) c.543A>G (p.Pro181=) c.*97A>G (n.*97A>G) c.586A>G (p.Met196Val) c.570A>G (p.Pro190=) c.465A>G (p.Pro155=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.184629442T>G | CA359105012 | CASP3 | c.664A>C (p.Met222Leu) n.2267A>C n.3629A>C c.*413A>C (n.*413A>C) c.543A>C (p.Pro181=) c.*97A>C (n.*97A>C) c.586A>C (p.Met196Leu) c.570A>C (p.Pro190=) c.465A>C (p.Pro155=) | |
| 4 | g.184629442T= | CA1519175676 | CASP3 | c.664A= (p.Met222=) n.2267A= n.3629A= c.*413A= (n.*413A=) c.543A= (p.Pro181=) c.*97A= (n.*97A=) c.586A= (p.Met196=) c.570A= (p.Pro190=) c.465A= (p.Pro155=) | |
| 4 | g.184629443G>A | CA359105014 | CASP3 | c.663C>T (p.Ala221=) n.2266C>T n.3628C>T c.*412C>T (n.*412C>T) c.542C>T (p.Pro181Leu) c.*96C>T (n.*96C>T) c.585C>T (p.Ala195=) c.569C>T (p.Pro190Leu) c.464C>T (p.Pro155Leu) | gnomAD v4 |
| 4 | g.184629443G>C | CA359105015 | CASP3 | c.663C>G (p.Ala221=) n.2266C>G n.3628C>G c.*412C>G (n.*412C>G) c.542C>G (p.Pro181Arg) c.*96C>G (n.*96C>G) c.585C>G (p.Ala195=) c.569C>G (p.Pro190Arg) c.464C>G (p.Pro155Arg) | |
| 4 | g.184629443G>T | CA359105016 | CASP3 | c.663C>A (p.Ala221=) n.2266C>A n.3628C>A c.*412C>A (n.*412C>A) c.542C>A (p.Pro181Gln) c.*96C>A (n.*96C>A) c.585C>A (p.Ala195=) c.569C>A (p.Pro190Gln) c.464C>A (p.Pro155Gln) | COSMIC |
| 4 | g.184629444G>A | CA359105017 | CASP3 | c.662C>T (p.Ala221Val) n.2265C>T n.3627C>T c.*411C>T (n.*411C>T) c.541C>T (p.Pro181Ser) c.*95C>T (n.*95C>T) c.584C>T (p.Ala195Val) c.568C>T (p.Pro190Ser) c.463C>T (p.Pro155Ser) | |
| 4 | g.184629444G>C | CA359105018 | CASP3 | c.662C>G (p.Ala221Gly) n.2265C>G n.3627C>G c.*411C>G (n.*411C>G) c.541C>G (p.Pro181Ala) c.*95C>G (n.*95C>G) c.584C>G (p.Ala195Gly) c.568C>G (p.Pro190Ala) c.463C>G (p.Pro155Ala) | |
| 4 | g.184629444G>T | CA359105019 | CASP3 | c.662C>A (p.Ala221Asp) n.2265C>A n.3627C>A c.*411C>A (n.*411C>A) c.541C>A (p.Pro181Thr) c.*95C>A (n.*95C>A) c.584C>A (p.Ala195Asp) c.568C>A (p.Pro190Thr) c.463C>A (p.Pro155Thr) | |
| 4 | g.184629445C>A | CA359105020 | CASP3 | c.661G>T (p.Ala221Ser) n.2264G>T n.3626G>T c.*410G>T (n.*410G>T) c.540G>T (p.Val180=) c.*94G>T (n.*94G>T) c.583G>T (p.Ala195Ser) c.567G>T (p.Val189=) c.462G>T (p.Val154=) | |
| 4 | g.184629445C>G | CA359105021 | CASP3 | c.661G>C (p.Ala221Pro) n.2264G>C n.3626G>C c.*410G>C (n.*410G>C) c.540G>C (p.Val180=) c.*94G>C (n.*94G>C) c.583G>C (p.Ala195Pro) c.567G>C (p.Val189=) c.462G>C (p.Val154=) | |
| 4 | g.184629445C>T | CA359105022 | CASP3 | c.661G>A (p.Ala221Thr) n.2264G>A n.3626G>A c.*410G>A (n.*410G>A) c.540G>A (p.Val180=) c.*94G>A (n.*94G>A) c.583G>A (p.Ala195Thr) c.567G>A (p.Val189=) c.462G>A (p.Val154=) | COSMIC |
| 4 | g.184629446A>C | CA359105025 | CASP3 | c.660T>G (p.Cys220Trp) n.2263T>G n.3625T>G c.*409T>G (n.*409T>G) c.539T>G (p.Val180Gly) c.*93T>G (n.*93T>G) c.582T>G (p.Cys194Trp) c.566T>G (p.Val189Gly) c.461T>G (p.Val154Gly) | |
| 4 | g.184629446A>G | CA359105024 | CASP3 | c.660T>C (p.Cys220=) n.2263T>C n.3625T>C c.*409T>C (n.*409T>C) c.539T>C (p.Val180Ala) c.*93T>C (n.*93T>C) c.582T>C (p.Cys194=) c.566T>C (p.Val189Ala) c.461T>C (p.Val154Ala) | |
| 4 | g.184629446A>T | CA359105023 | CASP3 | c.660T>A (p.Cys220Ter) n.2263T>A n.3625T>A c.*409T>A (n.*409T>A) c.539T>A (p.Val180Glu) c.*93T>A (n.*93T>A) c.582T>A (p.Cys194Ter) c.566T>A (p.Val189Glu) c.461T>A (p.Val154Glu) | |
| 4 | g.184629447C>A | CA359105026 | CASP3 | c.659G>T (p.Cys220Phe) n.2262G>T n.3624G>T c.*408G>T (n.*408G>T) c.538G>T (p.Val180Leu) c.*92G>T (n.*92G>T) c.581G>T (p.Cys194Phe) c.565G>T (p.Val189Leu) c.460G>T (p.Val154Leu) |