WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.184631852T>A | CA442737659 | CASP3 | c.396A>T (p.Gly132=) n.464A>T n.3361A>T c.*145A>T (n.*145A>T) c.423A>T (p.Gly141=) c.318A>T (p.Gly106=) | gnomAD v4 |
| 4 | g.184631852T>C | CA442737660 | CASP3 | c.396A>G (p.Gly132=) n.464A>G n.3361A>G c.*145A>G (n.*145A>G) c.423A>G (p.Gly141=) c.318A>G (p.Gly106=) | gnomAD v4 |
| 4 | g.184631852T>G | CA442737662 | CASP3 | c.396A>C (p.Gly132=) n.464A>C n.3361A>C c.*145A>C (n.*145A>C) c.423A>C (p.Gly141=) c.318A>C (p.Gly106=) | |
| 4 | g.184631853C>A | CA359106055 | CASP3 | c.395G>T (p.Gly132Val) n.463G>T n.3360G>T c.*144G>T (n.*144G>T) c.422G>T (p.Gly141Val) c.317G>T (p.Gly106Val) | |
| 4 | g.184631853C>G | CA359106053 | CASP3 | c.395G>C (p.Gly132Ala) n.463G>C n.3360G>C c.*144G>C (n.*144G>C) c.422G>C (p.Gly141Ala) c.317G>C (p.Gly106Ala) | |
| 4 | g.184631853C>T | CA359106054 | CASP3 | c.395G>A (p.Gly132Glu) n.463G>A n.3360G>A c.*144G>A (n.*144G>A) c.422G>A (p.Gly141Glu) c.317G>A (p.Gly106Glu) | |
| 4 | g.184631854C>A | CA359106056 | CASP3 | c.394G>T (p.Gly132Ter) n.462G>T n.3359G>T c.*143G>T (n.*143G>T) c.421G>T (p.Gly141Ter) c.316G>T (p.Gly106Ter) | |
| 4 | g.184631854C>G | CA359106057 | CASP3 | c.394G>C (p.Gly132Arg) n.462G>C n.3359G>C c.*143G>C (n.*143G>C) c.421G>C (p.Gly141Arg) c.316G>C (p.Gly106Arg) | |
| 4 | g.184631854C>T | CA359106058 | CASP3 | c.394G>A (p.Gly132Arg) n.462G>A n.3359G>A c.*143G>A (n.*143G>A) c.421G>A (p.Gly141Arg) c.316G>A (p.Gly106Arg) | |
| 4 | g.184631855A= | CA1519179809 | CASP3 | c.393T= (p.Asn131=) n.461T= n.3358T= c.*142T= (n.*142T=) c.420T= (p.Asn140=) c.315T= (p.Asn105=) | |
| 4 | g.184631855A>C | CA359106059 | CASP3 | c.393T>G (p.Asn131Lys) n.461T>G n.3358T>G c.*142T>G (n.*142T>G) c.420T>G (p.Asn140Lys) c.315T>G (p.Asn105Lys) | |
| 4 | g.184631855A>G | CA3154031 | CASP3 | c.393T>C (p.Asn131=) n.461T>C n.3358T>C c.*142T>C (n.*142T>C) c.420T>C (p.Asn140=) c.315T>C (p.Asn105=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.184631855A>T | CA359106060 | CASP3 | c.393T>A (p.Asn131Lys) n.461T>A n.3358T>A c.*142T>A (n.*142T>A) c.420T>A (p.Asn140Lys) c.315T>A (p.Asn105Lys) | |
| 4 | g.184631856T>A | CA359106061 | CASP3 | c.392A>T (p.Asn131Ile) n.460A>T n.3357A>T c.*141A>T (n.*141A>T) c.419A>T (p.Asn140Ile) c.314A>T (p.Asn105Ile) | |
| 4 | g.184631856T>C | CA359106062 | CASP3 | c.392A>G (p.Asn131Ser) n.460A>G n.3357A>G c.*141A>G (n.*141A>G) c.419A>G (p.Asn140Ser) c.314A>G (p.Asn105Ser) | |
| 4 | g.184631856T>G | CA359106063 | CASP3 | c.392A>C (p.Asn131Thr) n.460A>C n.3357A>C c.*141A>C (n.*141A>C) c.419A>C (p.Asn140Thr) c.314A>C (p.Asn105Thr) | |
| 4 | g.184631857T>A | CA359106064 | CASP3 | c.391A>T (p.Asn131Tyr) n.459A>T n.3356A>T c.*140A>T (n.*140A>T) c.418A>T (p.Asn140Tyr) c.313A>T (p.Asn105Tyr) | |
| 4 | g.184631857T>C | CA359106065 | CASP3 | c.391A>G (p.Asn131Asp) n.459A>G n.3356A>G c.*140A>G (n.*140A>G) c.418A>G (p.Asn140Asp) c.313A>G (p.Asn105Asp) | |
| 4 | g.184631857T>G | CA359106066 | CASP3 | c.391A>C (p.Asn131His) n.459A>C n.3356A>C c.*140A>C (n.*140A>C) c.418A>C (p.Asn140His) c.313A>C (p.Asn105His) | |
| 4 | g.184631858T>A | CA442737673 | CASP3 | c.390A>T (p.Thr130=) n.458A>T n.3355A>T c.*139A>T (n.*139A>T) c.417A>T (p.Thr139=) c.312A>T (p.Thr104=) | |
| 4 | g.184631858T>C | CA442737674 | CASP3 | c.390A>G (p.Thr130=) n.458A>G n.3355A>G c.*139A>G (n.*139A>G) c.417A>G (p.Thr139=) c.312A>G (p.Thr104=) | |
| 4 | g.184631858T>G | CA442737676 | CASP3 | c.390A>C (p.Thr130=) n.458A>C n.3355A>C c.*139A>C (n.*139A>C) c.417A>C (p.Thr139=) c.312A>C (p.Thr104=) | |
| 4 | g.184631859G>A | CA359106067 | CASP3 | c.389C>T (p.Thr130Ile) n.457C>T n.3354C>T c.*138C>T (n.*138C>T) c.416C>T (p.Thr139Ile) c.311C>T (p.Thr104Ile) | |
| 4 | g.184631859G>C | CA359106069 | CASP3 | c.389C>G (p.Thr130Arg) n.457C>G n.3354C>G c.*138C>G (n.*138C>G) c.416C>G (p.Thr139Arg) c.311C>G (p.Thr104Arg) | |
| 4 | g.184631859G>T | CA359106068 | CASP3 | c.389C>A (p.Thr130Lys) n.457C>A n.3354C>A c.*138C>A (n.*138C>A) c.416C>A (p.Thr139Lys) c.311C>A (p.Thr104Lys) | |
| 4 | g.184631860T>A | CA359106070 | CASP3 | c.388A>T (p.Thr130Ser) n.456A>T n.3353A>T c.*137A>T (n.*137A>T) c.415A>T (p.Thr139Ser) c.310A>T (p.Thr104Ser) | |
| 4 | g.184631860T>C | CA359106072 | CASP3 | c.388A>G (p.Thr130Ala) n.456A>G n.3353A>G c.*137A>G (n.*137A>G) c.415A>G (p.Thr139Ala) c.310A>G (p.Thr104Ala) | |
| 4 | g.184631860T>G | CA359106071 | CASP3 | c.388A>C (p.Thr130Pro) n.456A>C n.3353A>C c.*137A>C (n.*137A>C) c.415A>C (p.Thr139Pro) c.310A>C (p.Thr104Pro) | |
| 4 | g.184631861T>A | CA442737680 | CASP3 | c.387A>T (p.Gly129=) n.455A>T n.3352A>T c.*136A>T (n.*136A>T) c.414A>T (p.Gly138=) c.309A>T (p.Gly103=) | |
| 4 | g.184631861T>C | CA442737682 | CASP3 | c.387A>G (p.Gly129=) n.455A>G n.3352A>G c.*136A>G (n.*136A>G) c.414A>G (p.Gly138=) c.309A>G (p.Gly103=) | |
| 4 | g.184631861T>G | CA442737683 | CASP3 | c.387A>C (p.Gly129=) n.455A>C n.3352A>C c.*136A>C (n.*136A>C) c.414A>C (p.Gly138=) c.309A>C (p.Gly103=) | |
| 4 | g.184631862C>A | CA359106073 | CASP3 | c.386G>T (p.Gly129Val) n.454G>T n.3351G>T c.*135G>T (n.*135G>T) c.413G>T (p.Gly138Val) c.308G>T (p.Gly103Val) | |
| 4 | g.184631862C>G | CA359106074 | CASP3 | c.386G>C (p.Gly129Ala) n.454G>C n.3351G>C c.*135G>C (n.*135G>C) c.413G>C (p.Gly138Ala) c.308G>C (p.Gly103Ala) | gnomAD v4 |
| 4 | g.184631862C>T | CA359106075 | CASP3 | c.386G>A (p.Gly129Glu) n.454G>A n.3351G>A c.*135G>A (n.*135G>A) c.413G>A (p.Gly138Glu) c.308G>A (p.Gly103Glu) | |
| 4 | g.184631863C>A | CA359106076 | CASP3 | c.385G>T (p.Gly129Ter) n.453G>T n.3350G>T c.*134G>T (n.*134G>T) c.412G>T (p.Gly138Ter) c.307G>T (p.Gly103Ter) | COSMIC |
| 4 | g.184631863C= | CA1519179819 | CASP3 | c.385G= (p.Gly129=) n.453G= n.3350G= c.*134G= (n.*134G=) c.412G= (p.Gly138=) c.307G= (p.Gly103=) | |
| 4 | g.184631863C>G | CA359106077 | CASP3 | c.385G>C (p.Gly129Arg) n.453G>C n.3350G>C c.*134G>C (n.*134G>C) c.412G>C (p.Gly138Arg) c.307G>C (p.Gly103Arg) | |
| 4 | g.184631863C>T | CA359106078 | CASP3 | c.385G>A (p.Gly129Arg) n.453G>A n.3350G>A c.*134G>A (n.*134G>A) c.412G>A (p.Gly138Arg) c.307G>A (p.Gly103Arg) | |
| 4 | g.184631864A= | CA1519179822 | CASP3 | c.384T= (p.Phe128=) n.452T= n.3349T= c.*133T= (n.*133T=) c.411T= (p.Phe137=) c.306T= (p.Phe102=) | |
| 4 | g.184631864A>C | CA359106079 | CASP3 | c.384T>G (p.Phe128Leu) n.452T>G n.3349T>G c.*133T>G (n.*133T>G) c.411T>G (p.Phe137Leu) c.306T>G (p.Phe102Leu) | dbSNP gnomAD v4 |
| 4 | g.184631864A>G | CA3154032 | CASP3 | c.384T>C (p.Phe128=) n.452T>C n.3349T>C c.*133T>C (n.*133T>C) c.411T>C (p.Phe137=) c.306T>C (p.Phe102=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.184631864A>T | CA359106080 | CASP3 | c.384T>A (p.Phe128Leu) n.452T>A n.3349T>A c.*133T>A (n.*133T>A) c.411T>A (p.Phe137Leu) c.306T>A (p.Phe102Leu) | |
| 4 | g.184631868dup | CA1071874704 | CASP3 | c.384dup (p.Gly129TrpfsTer7) n.452dup n.3349dup c.*133dup (n.*133dup) c.411dup (p.Gly138TrpfsTer7) c.306dup (p.Gly103TrpfsTer7) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.184631868del | CA2672811819 | CASP3 | c.384del (p.Phe128LeufsTer9) n.452del n.3349del c.*133del (n.*133del) c.411del (p.Phe137LeufsTer9) c.306del (p.Phe102LeufsTer9) | gnomAD v4 |
| 4 | g.184631865A>C | CA359106081 | CASP3 | c.383T>G (p.Phe128Cys) n.451T>G n.3348T>G c.*132T>G (n.*132T>G) c.410T>G (p.Phe137Cys) c.305T>G (p.Phe102Cys) | |
| 4 | g.184631865A>G | CA359106082 | CASP3 | c.383T>C (p.Phe128Ser) n.451T>C n.3348T>C c.*132T>C (n.*132T>C) c.410T>C (p.Phe137Ser) c.305T>C (p.Phe102Ser) | |
| 4 | g.184631865A>T | CA359106083 | CASP3 | c.383T>A (p.Phe128Tyr) n.451T>A n.3348T>A c.*132T>A (n.*132T>A) c.410T>A (p.Phe137Tyr) c.305T>A (p.Phe102Tyr) | |
| 4 | g.184631866A>C | CA359106084 | CASP3 | c.382T>G (p.Phe128Val) n.450T>G n.3347T>G c.*131T>G (n.*131T>G) c.409T>G (p.Phe137Val) c.304T>G (p.Phe102Val) | |
| 4 | g.184631866A>G | CA359106086 | CASP3 | c.382T>C (p.Phe128Leu) n.450T>C n.3347T>C c.*131T>C (n.*131T>C) c.409T>C (p.Phe137Leu) c.304T>C (p.Phe102Leu) | |
| 4 | g.184631866A>T | CA359106085 | CASP3 | c.382T>A (p.Phe128Ile) n.450T>A n.3347T>A c.*131T>A (n.*131T>A) c.409T>A (p.Phe137Ile) c.304T>A (p.Phe102Ile) |