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.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) | |
| 4 | g.184631867A>C | CA359106087 | CASP3 | c.381T>G (p.Ile127Met) n.449T>G n.3346T>G c.*130T>G (n.*130T>G) c.408T>G (p.Ile136Met) c.303T>G (p.Ile101Met) | |
| 4 | g.184631867A>G | CA442737694 | CASP3 | c.381T>C (p.Ile127=) n.449T>C n.3346T>C c.*130T>C (n.*130T>C) c.408T>C (p.Ile136=) c.303T>C (p.Ile101=) | |
| 4 | g.184631867A>T | CA442737695 | CASP3 | c.381T>A (p.Ile127=) n.449T>A n.3346T>A c.*130T>A (n.*130T>A) c.408T>A (p.Ile136=) c.303T>A (p.Ile101=) | gnomAD v4 |
| 4 | g.184631868A>C | CA359106088 | CASP3 | c.380T>G (p.Ile127Ser) n.448T>G n.3345T>G c.*129T>G (n.*129T>G) c.407T>G (p.Ile136Ser) c.302T>G (p.Ile101Ser) | |
| 4 | g.184631868A>G | CA359106089 | CASP3 | c.380T>C (p.Ile127Thr) n.448T>C n.3345T>C c.*129T>C (n.*129T>C) c.407T>C (p.Ile136Thr) c.302T>C (p.Ile101Thr) | |
| 4 | g.184631868A>T | CA359106090 | CASP3 | c.380T>A (p.Ile127Asn) n.448T>A n.3345T>A c.*129T>A (n.*129T>A) c.407T>A (p.Ile136Asn) c.302T>A (p.Ile101Asn) | |
| 4 | g.184631869T>A | CA359106091 | CASP3 | c.379A>T (p.Ile127Phe) n.447A>T n.3344A>T c.*128A>T (n.*128A>T) c.406A>T (p.Ile136Phe) c.301A>T (p.Ile101Phe) | |
| 4 | g.184631869T>C | CA359106092 | CASP3 | c.379A>G (p.Ile127Val) n.447A>G n.3344A>G c.*128A>G (n.*128A>G) c.406A>G (p.Ile136Val) c.301A>G (p.Ile101Val) | dbSNP gnomAD v4 |
| 4 | g.184631869T>G | CA3154033 | CASP3 | c.379A>C (p.Ile127Leu) n.447A>C n.3344A>C c.*128A>C (n.*128A>C) c.406A>C (p.Ile136Leu) c.301A>C (p.Ile101Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.184631869T= | CA1519179825 | CASP3 | c.379A= (p.Ile127=) n.447A= n.3344A= c.*128A= (n.*128A=) c.406A= (p.Ile136=) c.301A= (p.Ile101=) | |
| 4 | g.184631870T>A | CA442737702 | CASP3 | c.378A>T (p.Ile126=) n.446A>T n.3343A>T c.*127A>T (n.*127A>T) c.405A>T (p.Ile135=) c.300A>T (p.Ile100=) | |
| 4 | g.184631870T>C | CA359106093 | CASP3 | c.378A>G (p.Ile126Met) n.446A>G n.3343A>G c.*127A>G (n.*127A>G) c.405A>G (p.Ile135Met) c.300A>G (p.Ile100Met) | |
| 4 | g.184631870T>G | CA3154034 | CASP3 | c.378A>C (p.Ile126=) n.446A>C n.3343A>C c.*127A>C (n.*127A>C) c.405A>C (p.Ile135=) c.300A>C (p.Ile100=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.184631870T= | CA1519179830 | CASP3 | c.378A= (p.Ile126=) n.446A= n.3343A= c.*127A= (n.*127A=) c.405A= (p.Ile135=) c.300A= (p.Ile100=) | |
| 4 | g.184631871A>C | CA359106095 | CASP3 | c.377T>G (p.Ile126Arg) n.445T>G n.3342T>G c.*126T>G (n.*126T>G) c.404T>G (p.Ile135Arg) c.299T>G (p.Ile100Arg) | |
| 4 | g.184631871A>G | CA359106096 | CASP3 | c.377T>C (p.Ile126Thr) n.445T>C n.3342T>C c.*126T>C (n.*126T>C) c.404T>C (p.Ile135Thr) c.299T>C (p.Ile100Thr) | ClinVar |
| 4 | g.184631871A>T | CA359106094 | CASP3 | c.377T>A (p.Ile126Lys) n.445T>A n.3342T>A c.*126T>A (n.*126T>A) c.404T>A (p.Ile135Lys) c.299T>A (p.Ile100Lys) | |
| 4 | g.184631872T>A | CA359106097 | CASP3 | c.376A>T (p.Ile126Leu) n.444A>T n.3341A>T c.*125A>T (n.*125A>T) c.403A>T (p.Ile135Leu) c.298A>T (p.Ile100Leu) | |
| 4 | g.184631872T>C | CA359106098 | CASP3 | c.376A>G (p.Ile126Val) n.444A>G n.3341A>G c.*125A>G (n.*125A>G) c.403A>G (p.Ile135Val) c.298A>G (p.Ile100Val) | dbSNP |
| 4 | g.184631872T>G | CA359106099 | CASP3 | c.376A>C (p.Ile126Leu) n.444A>C n.3341A>C c.*125A>C (n.*125A>C) c.403A>C (p.Ile135Leu) c.298A>C (p.Ile100Leu) | |
| 4 | g.184631872T= | CA1519179834 | CASP3 | c.376A= (p.Ile126=) n.444A= n.3341A= c.*125A= (n.*125A=) c.403A= (p.Ile135=) c.298A= (p.Ile100=) | |
| 4 | g.184631873T>A | CA442737711 | CASP3 | c.375A>T (p.Gly125=) n.443A>T n.3340A>T c.*124A>T (n.*124A>T) c.402A>T (p.Gly134=) c.297A>T (p.Gly99=) | |
| 4 | g.184631873T>C | CA442737710 | CASP3 | c.375A>G (p.Gly125=) n.443A>G n.3340A>G c.*124A>G (n.*124A>G) c.402A>G (p.Gly134=) c.297A>G (p.Gly99=) | |
| 4 | g.184631873T>G | CA442737708 | CASP3 | c.375A>C (p.Gly125=) n.443A>C n.3340A>C c.*124A>C (n.*124A>C) c.402A>C (p.Gly134=) c.297A>C (p.Gly99=) | |
| 4 | g.184631874C>A | CA359106100 | CASP3 | c.374G>T (p.Gly125Val) n.442G>T n.3339G>T c.*123G>T (n.*123G>T) c.401G>T (p.Gly134Val) c.296G>T (p.Gly99Val) |