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 |
|---|---|---|---|---|---|
| 20 | g.44424054G>A | CA9870396 | HNF4A | c.863G>A (p.Arg288Gln) c.929G>A (p.Arg310Gln) c.903G>A c.*696G>A (n.*696G>A) c.854G>A (p.Arg285Gln) c.908G>A (p.Arg303Gln) c.1046G>A (p.Arg349Gln) c.977G>A (p.Arg326Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44424054G>C | CA409108063 | HNF4A | c.863G>C (p.Arg288Pro) c.929G>C (p.Arg310Pro) c.903G>C c.*696G>C (n.*696G>C) c.854G>C (p.Arg285Pro) c.908G>C (p.Arg303Pro) c.1046G>C (p.Arg349Pro) c.977G>C (p.Arg326Pro) | |
| 20 | g.44424054G= | CA2365766376 | HNF4A | c.863G= (p.Arg288=) c.929G= (p.Arg310=) c.903G= c.*696G= (n.*696G=) c.854G= (p.Arg285=) c.908G= (p.Arg303=) c.1046G= (p.Arg349=) c.977G= (p.Arg326=) | |
| 20 | g.44424054G>T | CA9870397 | HNF4A | c.863G>T (p.Arg288Leu) c.929G>T (p.Arg310Leu) c.903G>T c.*696G>T (n.*696G>T) c.854G>T (p.Arg285Leu) c.908G>T (p.Arg303Leu) c.1046G>T (p.Arg349Leu) c.977G>T (p.Arg326Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44424055G>A | CA510582936 | HNF4A | c.864G>A (p.Arg288=) c.930G>A (p.Arg310=) c.904G>A c.*697G>A (n.*697G>A) c.855G>A (p.Arg285=) c.909G>A (p.Arg303=) c.1047G>A (p.Arg349=) c.978G>A (p.Arg326=) | |
| 20 | g.44424055G>C | CA510582937 | HNF4A | c.864G>C (p.Arg288=) c.930G>C (p.Arg310=) c.904G>C c.*697G>C (n.*697G>C) c.855G>C (p.Arg285=) c.909G>C (p.Arg303=) c.1047G>C (p.Arg349=) c.978G>C (p.Arg326=) | gnomAD v4 |
| 20 | g.44424055G>T | CA510582938 | HNF4A | c.864G>T (p.Arg288=) c.930G>T (p.Arg310=) c.904G>T c.*697G>T (n.*697G>T) c.855G>T (p.Arg285=) c.909G>T (p.Arg303=) c.1047G>T (p.Arg349=) c.978G>T (p.Arg326=) | |
| 20 | g.44424056C>A | CA409108064 | HNF4A | c.865C>A (p.Leu289Met) c.931C>A (p.Leu311Met) c.905C>A c.*698C>A (n.*698C>A) c.856C>A (p.Leu286Met) c.910C>A (p.Leu304Met) c.1048C>A (p.Leu350Met) c.979C>A (p.Leu327Met) | |
| 20 | g.44424056C= | CA2365766377 | HNF4A | c.865C= (p.Leu289=) c.931C= (p.Leu311=) c.905C= c.*698C= (n.*698C=) c.856C= (p.Leu286=) c.910C= (p.Leu304=) c.1048C= (p.Leu350=) c.979C= (p.Leu327=) | |
| 20 | g.44424056C>G | CA409108065 | HNF4A | c.865C>G (p.Leu289Val) c.931C>G (p.Leu311Val) c.905C>G c.*698C>G (n.*698C>G) c.856C>G (p.Leu286Val) c.910C>G (p.Leu304Val) c.1048C>G (p.Leu350Val) c.979C>G (p.Leu327Val) | |
| 20 | g.44424056C>T | CA9870398 | HNF4A | c.865C>T (p.Leu289=) c.931C>T (p.Leu311=) c.905C>T c.*698C>T (n.*698C>T) c.856C>T (p.Leu286=) c.910C>T (p.Leu304=) c.1048C>T (p.Leu350=) c.979C>T (p.Leu327=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 20 | g.44424057T>A | CA409108066 | HNF4A | c.866T>A (p.Leu289Gln) c.932T>A (p.Leu311Gln) c.906T>A c.*699T>A (n.*699T>A) c.857T>A (p.Leu286Gln) c.911T>A (p.Leu304Gln) c.1049T>A (p.Leu350Gln) c.980T>A (p.Leu327Gln) | |
| 20 | g.44424057T>C | CA409108067 | HNF4A | c.866T>C (p.Leu289Pro) c.932T>C (p.Leu311Pro) c.906T>C c.*699T>C (n.*699T>C) c.857T>C (p.Leu286Pro) c.911T>C (p.Leu304Pro) c.1049T>C (p.Leu350Pro) c.980T>C (p.Leu327Pro) | |
| 20 | g.44424057T>G | CA409108068 | HNF4A | c.866T>G (p.Leu289Arg) c.932T>G (p.Leu311Arg) c.906T>G c.*699T>G (n.*699T>G) c.857T>G (p.Leu286Arg) c.911T>G (p.Leu304Arg) c.1049T>G (p.Leu350Arg) c.980T>G (p.Leu327Arg) | |
| 20 | g.44424058G>A | CA9870399 | HNF4A | c.867G>A (p.Leu289=) c.933G>A (p.Leu311=) c.907G>A c.*700G>A (n.*700G>A) c.858G>A (p.Leu286=) c.912G>A (p.Leu304=) c.1050G>A (p.Leu350=) c.981G>A (p.Leu327=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44424058G>C | CA510582940 | HNF4A | c.867G>C (p.Leu289=) c.933G>C (p.Leu311=) c.907G>C c.*700G>C (n.*700G>C) c.858G>C (p.Leu286=) c.912G>C (p.Leu304=) c.1050G>C (p.Leu350=) c.981G>C (p.Leu327=) | |
| 20 | g.44424058G= | CA2365766378 | HNF4A | c.867G= (p.Leu289=) c.933G= (p.Leu311=) c.907G= c.*700G= (n.*700G=) c.858G= (p.Leu286=) c.912G= (p.Leu304=) c.1050G= (p.Leu350=) c.981G= (p.Leu327=) | |
| 20 | g.44424058G>T | CA510582939 | HNF4A | c.867G>T (p.Leu289=) c.933G>T (p.Leu311=) c.907G>T c.*700G>T (n.*700G>T) c.858G>T (p.Leu286=) c.912G>T (p.Leu304=) c.1050G>T (p.Leu350=) c.981G>T (p.Leu327=) | |
| 20 | g.44424059C>A | CA409108071 | HNF4A | c.868C>A (p.Arg290Ser) c.934C>A (p.Arg312Ser) c.908C>A c.*701C>A (n.*701C>A) c.859C>A (p.Arg287Ser) c.913C>A (p.Arg305Ser) c.1051C>A (p.Arg351Ser) c.982C>A (p.Arg328Ser) | |
| 20 | g.44424059C= | CA2365766379 | HNF4A | c.868C= (p.Arg290=) c.934C= (p.Arg312=) c.908C= c.*701C= (n.*701C=) c.859C= (p.Arg287=) c.913C= (p.Arg305=) c.1051C= (p.Arg351=) c.982C= (p.Arg328=) | |
| 20 | g.44424059C>G | CA409108069 | HNF4A | c.868C>G (p.Arg290Gly) c.934C>G (p.Arg312Gly) c.908C>G c.*701C>G (n.*701C>G) c.859C>G (p.Arg287Gly) c.913C>G (p.Arg305Gly) c.1051C>G (p.Arg351Gly) c.982C>G (p.Arg328Gly) | ClinVar |
| 20 | g.44424059C>T | CA409108070 | HNF4A | c.868C>T (p.Arg290Cys) c.934C>T (p.Arg312Cys) c.908C>T c.*701C>T (n.*701C>T) c.859C>T (p.Arg287Cys) c.913C>T (p.Arg305Cys) c.1051C>T (p.Arg351Cys) c.982C>T (p.Arg328Cys) | ClinVar dbSNP |
| 20 | g.44424060G>A | CA409108072 | HNF4A | c.869G>A (p.Arg290His) c.935G>A (p.Arg312His) c.909G>A c.*702G>A (n.*702G>A) c.860G>A (p.Arg287His) c.914G>A (p.Arg305His) c.1052G>A (p.Arg351His) c.983G>A (p.Arg328His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 20 | g.44424060G>C | CA409108073 | HNF4A | c.869G>C (p.Arg290Pro) c.935G>C (p.Arg312Pro) c.909G>C c.*702G>C (n.*702G>C) c.860G>C (p.Arg287Pro) c.914G>C (p.Arg305Pro) c.1052G>C (p.Arg351Pro) c.983G>C (p.Arg328Pro) | |
| 20 | g.44424060G= | CA2365766380 | HNF4A | c.869G= (p.Arg290=) c.935G= (p.Arg312=) c.909G= c.*702G= (n.*702G=) c.860G= (p.Arg287=) c.914G= (p.Arg305=) c.1052G= (p.Arg351=) c.983G= (p.Arg328=) | |
| 20 | g.44424060G>T | CA409108074 | HNF4A | c.869G>T (p.Arg290Leu) c.935G>T (p.Arg312Leu) c.909G>T c.*702G>T (n.*702G>T) c.860G>T (p.Arg287Leu) c.914G>T (p.Arg305Leu) c.1052G>T (p.Arg351Leu) c.983G>T (p.Arg328Leu) | |
| 20 | g.44424061T>A | CA510582941 | HNF4A | c.870T>A (p.Arg290=) c.936T>A (p.Arg312=) c.910T>A c.*703T>A (n.*703T>A) c.861T>A (p.Arg287=) c.915T>A (p.Arg305=) c.1053T>A (p.Arg351=) c.984T>A (p.Arg328=) | |
| 20 | g.44424061T>C | CA9870400 | HNF4A | c.870T>C (p.Arg290=) c.936T>C (p.Arg312=) c.910T>C c.*703T>C (n.*703T>C) c.861T>C (p.Arg287=) c.915T>C (p.Arg305=) c.1053T>C (p.Arg351=) c.984T>C (p.Arg328=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44424061T>G | CA510582942 | HNF4A | c.870T>G (p.Arg290=) c.936T>G (p.Arg312=) c.910T>G c.*703T>G (n.*703T>G) c.861T>G (p.Arg287=) c.915T>G (p.Arg305=) c.1053T>G (p.Arg351=) c.984T>G (p.Arg328=) | gnomAD v4 |
| 20 | g.44424061T= | CA2365766381 | HNF4A | c.870T= (p.Arg290=) c.936T= (p.Arg312=) c.910T= c.*703T= (n.*703T=) c.861T= (p.Arg287=) c.915T= (p.Arg305=) c.1053T= (p.Arg351=) c.984T= (p.Arg328=) | |
| 20 | g.44424062T>A | CA409108075 | HNF4A | c.871T>A (p.Ser291Thr) c.937T>A (p.Ser313Thr) c.911T>A c.*704T>A (n.*704T>A) c.862T>A (p.Ser288Thr) c.916T>A (p.Ser306Thr) c.1054T>A (p.Ser352Thr) c.985T>A (p.Ser329Thr) | |
| 20 | g.44424062T>C | CA409108076 | HNF4A | c.871T>C (p.Ser291Pro) c.937T>C (p.Ser313Pro) c.911T>C c.*704T>C (n.*704T>C) c.862T>C (p.Ser288Pro) c.916T>C (p.Ser306Pro) c.1054T>C (p.Ser352Pro) c.985T>C (p.Ser329Pro) | |
| 20 | g.44424062T>G | CA409108077 | HNF4A | c.871T>G (p.Ser291Ala) c.937T>G (p.Ser313Ala) c.911T>G c.*704T>G (n.*704T>G) c.862T>G (p.Ser288Ala) c.916T>G (p.Ser306Ala) c.1054T>G (p.Ser352Ala) c.985T>G (p.Ser329Ala) | |
| 20 | g.44424063C>A | CA409108078 | HNF4A | c.872C>A (p.Ser291Tyr) c.938C>A (p.Ser313Tyr) c.912C>A c.*705C>A (n.*705C>A) c.863C>A (p.Ser288Tyr) c.917C>A (p.Ser306Tyr) c.1055C>A (p.Ser352Tyr) c.986C>A (p.Ser329Tyr) | gnomAD v4 |
| 20 | g.44424063C>G | CA409108079 | HNF4A | c.872C>G (p.Ser291Cys) c.938C>G (p.Ser313Cys) c.912C>G c.*705C>G (n.*705C>G) c.863C>G (p.Ser288Cys) c.917C>G (p.Ser306Cys) c.1055C>G (p.Ser352Cys) c.986C>G (p.Ser329Cys) | |
| 20 | g.44424063C>T | CA409108080 | HNF4A | c.872C>T (p.Ser291Phe) c.938C>T (p.Ser313Phe) c.912C>T c.*705C>T (n.*705C>T) c.863C>T (p.Ser288Phe) c.917C>T (p.Ser306Phe) c.1055C>T (p.Ser352Phe) c.986C>T (p.Ser329Phe) | |
| 20 | g.44424064C>A | CA510582943 | HNF4A | c.873C>A (p.Ser291=) c.939C>A (p.Ser313=) c.913C>A c.*706C>A (n.*706C>A) c.864C>A (p.Ser288=) c.918C>A (p.Ser306=) c.1056C>A (p.Ser352=) c.987C>A (p.Ser329=) | |
| 20 | g.44424064C= | CA2365766382 | HNF4A | c.873C= (p.Ser291=) c.939C= (p.Ser313=) c.913C= c.*706C= (n.*706C=) c.864C= (p.Ser288=) c.918C= (p.Ser306=) c.1056C= (p.Ser352=) c.987C= (p.Ser329=) | |
| 20 | g.44424064C>G | CA510582944 | HNF4A | c.873C>G (p.Ser291=) c.939C>G (p.Ser313=) c.913C>G c.*706C>G (n.*706C>G) c.864C>G (p.Ser288=) c.918C>G (p.Ser306=) c.1056C>G (p.Ser352=) c.987C>G (p.Ser329=) | |
| 20 | g.44424064C>T | CA510582945 | HNF4A | c.873C>T (p.Ser291=) c.939C>T (p.Ser313=) c.913C>T c.*706C>T (n.*706C>T) c.864C>T (p.Ser288=) c.918C>T (p.Ser306=) c.1056C>T (p.Ser352=) c.987C>T (p.Ser329=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 20 | g.44424065C>A | CA409108083 | HNF4A | c.874C>A (p.Gln292Lys) c.940C>A (p.Gln314Lys) c.914C>A c.*707C>A (n.*707C>A) c.865C>A (p.Gln289Lys) c.919C>A (p.Gln307Lys) c.1057C>A (p.Gln353Lys) c.988C>A (p.Gln330Lys) | |
| 20 | g.44424065C>G | CA409108081 | HNF4A | c.874C>G (p.Gln292Glu) c.940C>G (p.Gln314Glu) c.914C>G c.*707C>G (n.*707C>G) c.865C>G (p.Gln289Glu) c.919C>G (p.Gln307Glu) c.1057C>G (p.Gln353Glu) c.988C>G (p.Gln330Glu) | |
| 20 | g.44424065C>T | CA409108082 | HNF4A | c.874C>T (p.Gln292Ter) c.940C>T (p.Gln314Ter) c.914C>T c.*707C>T (n.*707C>T) c.865C>T (p.Gln289Ter) c.919C>T (p.Gln307Ter) c.1057C>T (p.Gln353Ter) c.988C>T (p.Gln330Ter) | ClinVar COSMIC COSMIC COSMIC |
| 20 | g.44424066A= | CA2365766383 | HNF4A | c.875A= (p.Gln292=) c.941A= (p.Gln314=) c.915A= c.*708A= (n.*708A=) c.866A= (p.Gln289=) c.920A= (p.Gln307=) c.1058A= (p.Gln353=) c.989A= (p.Gln330=) | |
| 20 | g.44424066A>C | CA409108084 | HNF4A | c.875A>C (p.Gln292Pro) c.941A>C (p.Gln314Pro) c.915A>C c.*708A>C (n.*708A>C) c.866A>C (p.Gln289Pro) c.920A>C (p.Gln307Pro) c.1058A>C (p.Gln353Pro) c.989A>C (p.Gln330Pro) | |
| 20 | g.44424066A>G | CA409108085 | HNF4A | c.875A>G (p.Gln292Arg) c.941A>G (p.Gln314Arg) c.915A>G c.*708A>G (n.*708A>G) c.866A>G (p.Gln289Arg) c.920A>G (p.Gln307Arg) c.1058A>G (p.Gln353Arg) c.989A>G (p.Gln330Arg) | dbSNP |
| 20 | g.44424066A>T | CA9870401 | HNF4A | c.875A>T (p.Gln292Leu) c.941A>T (p.Gln314Leu) c.915A>T c.*708A>T (n.*708A>T) c.866A>T (p.Gln289Leu) c.920A>T (p.Gln307Leu) c.1058A>T (p.Gln353Leu) c.989A>T (p.Gln330Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.44424067G>A | CA510582946 | HNF4A | c.876G>A (p.Gln292=) c.942G>A (p.Gln314=) c.916G>A c.*709G>A (n.*709G>A) c.867G>A (p.Gln289=) c.921G>A (p.Gln307=) c.1059G>A (p.Gln353=) c.990G>A (p.Gln330=) | |
| 20 | g.44424067G>C | CA409108086 | HNF4A | c.876G>C (p.Gln292His) c.942G>C (p.Gln314His) c.916G>C c.*709G>C (n.*709G>C) c.867G>C (p.Gln289His) c.921G>C (p.Gln307His) c.1059G>C (p.Gln353His) c.990G>C (p.Gln330His) | |
| 20 | g.44424067G>T | CA409108087 | HNF4A | c.876G>T (p.Gln292His) c.942G>T (p.Gln314His) c.916G>T c.*709G>T (n.*709G>T) c.867G>T (p.Gln289His) c.921G>T (p.Gln307His) c.1059G>T (p.Gln353His) c.990G>T (p.Gln330His) |