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.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) | |
| 4 | g.184629447C>G | CA359105027 | CASP3 | c.659G>C (p.Cys220Ser) n.2262G>C n.3624G>C c.*408G>C (n.*408G>C) c.538G>C (p.Val180Leu) c.*92G>C (n.*92G>C) c.581G>C (p.Cys194Ser) c.565G>C (p.Val189Leu) c.460G>C (p.Val154Leu) | |
| 4 | g.184629447C>T | CA359105028 | CASP3 | c.659G>A (p.Cys220Tyr) n.2262G>A n.3624G>A c.*408G>A (n.*408G>A) c.538G>A (p.Val180Met) c.*92G>A (n.*92G>A) c.581G>A (p.Cys194Tyr) c.565G>A (p.Val189Met) c.460G>A (p.Val154Met) | |
| 4 | g.184629448A>C | CA359105029 | CASP3 | c.658T>G (p.Cys220Gly) n.2261T>G n.3623T>G c.*407T>G (n.*407T>G) c.537T>G (p.Phe179Leu) c.*91T>G (n.*91T>G) c.580T>G (p.Cys194Gly) c.564T>G (p.Phe188Leu) c.459T>G (p.Phe153Leu) | |
| 4 | g.184629448A>G | CA359105030 | CASP3 | c.658T>C (p.Cys220Arg) n.2261T>C n.3623T>C c.*407T>C (n.*407T>C) c.537T>C (p.Phe179=) c.*91T>C (n.*91T>C) c.580T>C (p.Cys194Arg) c.564T>C (p.Phe188=) c.459T>C (p.Phe153=) | |
| 4 | g.184629448A>T | CA359105031 | CASP3 | c.658T>A (p.Cys220Ser) n.2261T>A n.3623T>A c.*407T>A (n.*407T>A) c.537T>A (p.Phe179Leu) c.*91T>A (n.*91T>A) c.580T>A (p.Cys194Ser) c.564T>A (p.Phe188Leu) c.459T>A (p.Phe153Leu) | |
| 4 | g.184629449A>C | CA359105032 | CASP3 | c.657T>G (p.Leu219=) n.2260T>G n.3622T>G c.*406T>G (n.*406T>G) c.536T>G (p.Phe179Cys) c.*90T>G (n.*90T>G) c.579T>G (p.Leu193=) c.563T>G (p.Phe188Cys) c.458T>G (p.Phe153Cys) | |
| 4 | g.184629449A>G | CA359105033 | CASP3 | c.657T>C (p.Leu219=) n.2260T>C n.3622T>C c.*406T>C (n.*406T>C) c.536T>C (p.Phe179Ser) c.*90T>C (n.*90T>C) c.579T>C (p.Leu193=) c.563T>C (p.Phe188Ser) c.458T>C (p.Phe153Ser) | COSMIC |
| 4 | g.184629449A>T | CA359105034 | CASP3 | c.657T>A (p.Leu219=) n.2260T>A n.3622T>A c.*406T>A (n.*406T>A) c.536T>A (p.Phe179Tyr) c.*90T>A (n.*90T>A) c.579T>A (p.Leu193=) c.563T>A (p.Phe188Tyr) c.458T>A (p.Phe153Tyr) | |
| 4 | g.184629450A>C | CA359105035 | CASP3 | c.656T>G (p.Leu219Arg) n.2259T>G n.3621T>G c.*405T>G (n.*405T>G) c.535T>G (p.Phe179Val) c.*89T>G (n.*89T>G) c.578T>G (p.Leu193Arg) c.562T>G (p.Phe188Val) c.457T>G (p.Phe153Val) | |
| 4 | g.184629450A>G | CA359105036 | CASP3 | c.656T>C (p.Leu219Pro) n.2259T>C n.3621T>C c.*405T>C (n.*405T>C) c.535T>C (p.Phe179Leu) c.*89T>C (n.*89T>C) c.578T>C (p.Leu193Pro) c.562T>C (p.Phe188Leu) c.457T>C (p.Phe153Leu) | |
| 4 | g.184629450A>T | CA359105037 | CASP3 | c.656T>A (p.Leu219His) n.2259T>A n.3621T>A c.*405T>A (n.*405T>A) c.535T>A (p.Phe179Ile) c.*89T>A (n.*89T>A) c.578T>A (p.Leu193His) c.562T>A (p.Phe188Ile) c.457T>A (p.Phe153Ile) | |
| 4 | g.184629451G>A | CA359105040 | CASP3 | c.655C>T (p.Leu219Phe) n.2258C>T n.3620C>T c.*404C>T (n.*404C>T) c.534C>T (p.Arg178=) c.*88C>T (n.*88C>T) c.577C>T (p.Leu193Phe) c.561C>T (p.Arg187=) c.456C>T (p.Arg152=) | |
| 4 | g.184629451G>C | CA359105039 | CASP3 | c.655C>G (p.Leu219Val) n.2258C>G n.3620C>G c.*404C>G (n.*404C>G) c.534C>G (p.Arg178=) c.*88C>G (n.*88C>G) c.577C>G (p.Leu193Val) c.561C>G (p.Arg187=) c.456C>G (p.Arg152=) | |
| 4 | g.184629451G>T | CA359105038 | CASP3 | c.655C>A (p.Leu219Ile) n.2258C>A n.3620C>A c.*404C>A (n.*404C>A) c.534C>A (p.Arg178=) c.*88C>A (n.*88C>A) c.577C>A (p.Leu193Ile) c.561C>A (p.Arg187=) c.456C>A (p.Arg152=) | |
| 4 | g.184629452C>A | CA359105041 | CASP3 | c.654G>T (p.Ser218=) n.2257G>T n.3619G>T c.*403G>T (n.*403G>T) c.533G>T (p.Arg178Leu) c.*87G>T (n.*87G>T) c.576G>T (p.Ser192=) c.560G>T (p.Arg187Leu) c.455G>T (p.Arg152Leu) | |
| 4 | g.184629452C= | CA1519175681 | CASP3 | c.654G= (p.Ser218=) n.2257G= n.3619G= c.*403G= (n.*403G=) c.533G= (p.Arg178=) c.*87G= (n.*87G=) c.576G= (p.Ser192=) c.560G= (p.Arg187=) c.455G= (p.Arg152=) | |
| 4 | g.184629452C>G | CA359105042 | CASP3 | c.654G>C (p.Ser218=) n.2257G>C n.3619G>C c.*403G>C (n.*403G>C) c.533G>C (p.Arg178Pro) c.*87G>C (n.*87G>C) c.576G>C (p.Ser192=) c.560G>C (p.Arg187Pro) c.455G>C (p.Arg152Pro) | |
| 4 | g.184629452C>T | CA3153962 | CASP3 | c.654G>A (p.Ser218=) n.2257G>A n.3619G>A c.*403G>A (n.*403G>A) c.533G>A (p.Arg178His) c.*87G>A (n.*87G>A) c.576G>A (p.Ser192=) c.560G>A (p.Arg187His) c.455G>A (p.Arg152His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.184629453G>A | CA3153963 | CASP3 | c.653C>T (p.Ser218Leu) n.2256C>T n.3618C>T c.*402C>T (n.*402C>T) c.532C>T (p.Arg178Cys) c.*86C>T (n.*86C>T) c.575C>T (p.Ser192Leu) c.559C>T (p.Arg187Cys) c.454C>T (p.Arg152Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.184629453G>C | CA359105043 | CASP3 | c.653C>G (p.Ser218Trp) n.2256C>G n.3618C>G c.*402C>G (n.*402C>G) c.532C>G (p.Arg178Gly) c.*86C>G (n.*86C>G) c.575C>G (p.Ser192Trp) c.559C>G (p.Arg187Gly) c.454C>G (p.Arg152Gly) | |
| 4 | g.184629453G= | CA1519175690 | CASP3 | c.653C= (p.Ser218=) n.2256C= n.3618C= c.*402C= (n.*402C=) c.532C= (p.Arg178=) c.*86C= (n.*86C=) c.575C= (p.Ser192=) c.559C= (p.Arg187=) c.454C= (p.Arg152=) | |
| 4 | g.184629453G>T | CA359105044 | CASP3 | c.653C>A (p.Ser218Ter) n.2256C>A n.3618C>A c.*402C>A (n.*402C>A) c.532C>A (p.Arg178Ser) c.*86C>A (n.*86C>A) c.575C>A (p.Ser192Ter) c.559C>A (p.Arg187Ser) c.454C>A (p.Arg152Ser) | gnomAD v4 |
| 4 | g.184629454A>C | CA359105045 | CASP3 | c.652T>G (p.Ser218Ala) n.2255T>G n.3617T>G c.*401T>G (n.*401T>G) c.531T>G (p.Ser177Arg) c.*85T>G (n.*85T>G) c.574T>G (p.Ser192Ala) c.558T>G (p.Ser186Arg) c.453T>G (p.Ser151Arg) | |
| 4 | g.184629454A>G | CA359105046 | CASP3 | c.652T>C (p.Ser218Pro) n.2255T>C n.3617T>C c.*401T>C (n.*401T>C) c.531T>C (p.Ser177=) c.*85T>C (n.*85T>C) c.574T>C (p.Ser192Pro) c.558T>C (p.Ser186=) c.453T>C (p.Ser151=) | |
| 4 | g.184629454A>T | CA359105047 | CASP3 | c.652T>A (p.Ser218Thr) n.2255T>A n.3617T>A c.*401T>A (n.*401T>A) c.531T>A (p.Ser177Arg) c.*85T>A (n.*85T>A) c.574T>A (p.Ser192Thr) c.558T>A (p.Ser186Arg) c.453T>A (p.Ser151Arg) | |
| 4 | g.184629455C>A | CA3153964 | CASP3 | c.651G>T (p.Gln217His) n.2254G>T n.3616G>T c.*400G>T (n.*400G>T) c.530G>T (p.Ser177Ile) c.*84G>T (n.*84G>T) c.573G>T (p.Gln191His) c.557G>T (p.Ser186Ile) c.452G>T (p.Ser151Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.184629455C= | CA1519175695 | CASP3 | c.651G= (p.Gln217=) n.2254G= n.3616G= c.*400G= (n.*400G=) c.530G= (p.Ser177=) c.*84G= (n.*84G=) c.573G= (p.Gln191=) c.557G= (p.Ser186=) c.452G= (p.Ser151=) | |
| 4 | g.184629455C>G | CA359105048 | CASP3 | c.651G>C (p.Gln217His) n.2254G>C n.3616G>C c.*400G>C (n.*400G>C) c.530G>C (p.Ser177Thr) c.*84G>C (n.*84G>C) c.573G>C (p.Gln191His) c.557G>C (p.Ser186Thr) c.452G>C (p.Ser151Thr) | |
| 4 | g.184629455C>T | CA359105049 | CASP3 | c.651G>A (p.Gln217=) n.2254G>A n.3616G>A c.*400G>A (n.*400G>A) c.530G>A (p.Ser177Asn) c.*84G>A (n.*84G>A) c.573G>A (p.Gln191=) c.557G>A (p.Ser186Asn) c.452G>A (p.Ser151Asn) | |
| 4 | g.184629456T>A | CA359105052 | CASP3 | c.650A>T (p.Gln217Leu) n.2253A>T n.3615A>T c.*399A>T (n.*399A>T) c.529A>T (p.Ser177Cys) c.*83A>T (n.*83A>T) c.572A>T (p.Gln191Leu) c.556A>T (p.Ser186Cys) c.451A>T (p.Ser151Cys) | |
| 4 | g.184629456T>C | CA359105051 | CASP3 | c.650A>G (p.Gln217Arg) n.2253A>G n.3615A>G c.*399A>G (n.*399A>G) c.529A>G (p.Ser177Gly) c.*83A>G (n.*83A>G) c.572A>G (p.Gln191Arg) c.556A>G (p.Ser186Gly) c.451A>G (p.Ser151Gly) | gnomAD v4 |
| 4 | g.184629456T>G | CA359105050 | CASP3 | c.650A>C (p.Gln217Pro) n.2253A>C n.3615A>C c.*399A>C (n.*399A>C) c.529A>C (p.Ser177Arg) c.*83A>C (n.*83A>C) c.572A>C (p.Gln191Pro) c.556A>C (p.Ser186Arg) c.451A>C (p.Ser151Arg) | |
| 4 | g.184629457G>A | CA359105053 | CASP3 | c.649C>T (p.Gln217Ter) n.2252C>T n.3614C>T c.*398C>T (n.*398C>T) c.528C>T (p.Ser176=) c.*82C>T (n.*82C>T) c.571C>T (p.Gln191Ter) c.555C>T (p.Ser185=) c.450C>T (p.Ser150=) | gnomAD v4 |
| 4 | g.184629457G>C | CA359105055 | CASP3 | c.649C>G (p.Gln217Glu) n.2252C>G n.3614C>G c.*398C>G (n.*398C>G) c.528C>G (p.Ser176=) c.*82C>G (n.*82C>G) c.571C>G (p.Gln191Glu) c.555C>G (p.Ser185=) c.450C>G (p.Ser150=) | |
| 4 | g.184629457G>T | CA359105054 | CASP3 | c.649C>A (p.Gln217Lys) n.2252C>A n.3614C>A c.*398C>A (n.*398C>A) c.528C>A (p.Ser176=) c.*82C>A (n.*82C>A) c.571C>A (p.Gln191Lys) c.555C>A (p.Ser185=) c.450C>A (p.Ser150=) | |
| 4 | g.184629458G>A | CA359105056 | CASP3 | c.648C>T (p.Ile216=) n.2251C>T n.3613C>T c.*397C>T (n.*397C>T) c.527C>T (p.Ser176Phe) c.*81C>T (n.*81C>T) c.570C>T (p.Ile190=) c.554C>T (p.Ser185Phe) c.449C>T (p.Ser150Phe) | |
| 4 | g.184629458G>C | CA359105058 | CASP3 | c.648C>G (p.Ile216Met) n.2251C>G n.3613C>G c.*397C>G (n.*397C>G) c.527C>G (p.Ser176Cys) c.*81C>G (n.*81C>G) c.570C>G (p.Ile190Met) c.554C>G (p.Ser185Cys) c.449C>G (p.Ser150Cys) | |
| 4 | g.184629458G>T | CA359105057 | CASP3 | c.648C>A (p.Ile216=) n.2251C>A n.3613C>A c.*397C>A (n.*397C>A) c.527C>A (p.Ser176Tyr) c.*81C>A (n.*81C>A) c.570C>A (p.Ile190=) c.554C>A (p.Ser185Tyr) c.449C>A (p.Ser150Tyr) | |
| 4 | g.184629459A>C | CA359105059 | CASP3 | c.647T>G (p.Ile216Ser) n.2250T>G n.3612T>G c.*396T>G (n.*396T>G) c.526T>G (p.Ser176Ala) c.*80T>G (n.*80T>G) c.569T>G (p.Ile190Ser) c.553T>G (p.Ser185Ala) c.448T>G (p.Ser150Ala) | |
| 4 | g.184629459A>G | CA359105060 | CASP3 | c.647T>C (p.Ile216Thr) n.2250T>C n.3612T>C c.*396T>C (n.*396T>C) c.526T>C (p.Ser176Pro) c.*80T>C (n.*80T>C) c.569T>C (p.Ile190Thr) c.553T>C (p.Ser185Pro) c.448T>C (p.Ser150Pro) | |
| 4 | g.184629459A>T | CA359105061 | CASP3 | c.647T>A (p.Ile216Asn) n.2250T>A n.3612T>A c.*396T>A (n.*396T>A) c.526T>A (p.Ser176Thr) c.*80T>A (n.*80T>A) c.569T>A (p.Ile190Asn) c.553T>A (p.Ser185Thr) c.448T>A (p.Ser150Thr) | |
| 4 | g.184629460T>A | CA359105062 | CASP3 | c.646A>T (p.Ile216Phe) n.2249A>T n.3611A>T c.*395A>T (n.*395A>T) c.525A>T (p.Ser175=) c.*79A>T (n.*79A>T) c.568A>T (p.Ile190Phe) c.552A>T (p.Ser184=) c.447A>T (p.Ser149=) | |
| 4 | g.184629460T>C | CA359105063 | CASP3 | c.646A>G (p.Ile216Val) n.2249A>G n.3611A>G c.*395A>G (n.*395A>G) c.525A>G (p.Ser175=) c.*79A>G (n.*79A>G) c.568A>G (p.Ile190Val) c.552A>G (p.Ser184=) c.447A>G (p.Ser149=) | |
| 4 | g.184629460T>G | CA359105064 | CASP3 | c.646A>C (p.Ile216Leu) n.2249A>C n.3611A>C c.*395A>C (n.*395A>C) c.525A>C (p.Ser175=) c.*79A>C (n.*79A>C) c.568A>C (p.Ile190Leu) c.552A>C (p.Ser184=) c.447A>C (p.Ser149=) | |
| 4 | g.184629461G>A | CA359105065 | CASP3 | c.645C>T (p.Phe215=) n.2248C>T n.3610C>T c.*394C>T (n.*394C>T) c.524C>T (p.Ser175Leu) c.*78C>T (n.*78C>T) c.567C>T (p.Phe189=) c.551C>T (p.Ser184Leu) c.446C>T (p.Ser149Leu) | COSMIC |
| 4 | g.184629461G>C | CA359105066 | CASP3 | c.645C>G (p.Phe215Leu) n.2248C>G n.3610C>G c.*394C>G (n.*394C>G) c.524C>G (p.Ser175Ter) c.*78C>G (n.*78C>G) c.567C>G (p.Phe189Leu) c.551C>G (p.Ser184Ter) c.446C>G (p.Ser149Ter) | |
| 4 | g.184629461G>T | CA359105067 | CASP3 | c.645C>A (p.Phe215Leu) n.2248C>A n.3610C>A c.*394C>A (n.*394C>A) c.524C>A (p.Ser175Ter) c.*78C>A (n.*78C>A) c.567C>A (p.Phe189Leu) c.551C>A (p.Ser184Ter) c.446C>A (p.Ser149Ter) | |
| 4 | g.184629462A>C | CA359105068 | CASP3 | c.644T>G (p.Phe215Cys) n.2247T>G n.3609T>G c.*393T>G (n.*393T>G) c.523T>G (p.Ser175Ala) c.*77T>G (n.*77T>G) c.566T>G (p.Phe189Cys) c.550T>G (p.Ser184Ala) c.445T>G (p.Ser149Ala) | |
| 4 | g.184629462A>G | CA359105069 | CASP3 | c.644T>C (p.Phe215Ser) n.2247T>C n.3609T>C c.*393T>C (n.*393T>C) c.523T>C (p.Ser175Pro) c.*77T>C (n.*77T>C) c.566T>C (p.Phe189Ser) c.550T>C (p.Ser184Pro) c.445T>C (p.Ser149Pro) |