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 |
|---|---|---|---|---|---|
| 8 | g.11755076G>A | CA4630764 | GATA4 | c.940G>A (p.Gly314Arg) c.943G>A (p.Gly315Arg) c.322G>A (p.Gly108Arg) c.937G>A (p.Gly313Arg) c.196G>A (p.Gly66Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11755076G>C | CA370314412 | GATA4 | c.940G>C (p.Gly314Arg) c.943G>C (p.Gly315Arg) c.322G>C (p.Gly108Arg) c.937G>C (p.Gly313Arg) c.196G>C (p.Gly66Arg) | |
| 8 | g.11755076G= | CA1764070137 | GATA4 | c.940G= (p.Gly314=) c.943G= (p.Gly315=) c.322G= (p.Gly108=) c.937G= (p.Gly313=) c.196G= (p.Gly66=) | |
| 8 | g.11755076G>T | CA370314413 | GATA4 | c.940G>T (p.Gly314Trp) c.943G>T (p.Gly315Trp) c.322G>T (p.Gly108Trp) c.937G>T (p.Gly313Trp) c.196G>T (p.Gly66Trp) | |
| 8 | g.11755077G>A | CA370314415 | GATA4 | c.941G>A (p.Gly314Glu) c.944G>A (p.Gly315Glu) c.323G>A (p.Gly108Glu) c.938G>A (p.Gly313Glu) c.197G>A (p.Gly66Glu) | dbSNP gnomAD v4 |
| 8 | g.11755077G>C | CA370314417 | GATA4 | c.941G>C (p.Gly314Ala) c.944G>C (p.Gly315Ala) c.323G>C (p.Gly108Ala) c.938G>C (p.Gly313Ala) c.197G>C (p.Gly66Ala) | |
| 8 | g.11755077G= | CA1764070141 | GATA4 | c.941G= (p.Gly314=) c.944G= (p.Gly315=) c.323G= (p.Gly108=) c.938G= (p.Gly313=) c.197G= (p.Gly66=) | |
| 8 | g.11755077G>T | CA370314418 | GATA4 | c.941G>T (p.Gly314Val) c.944G>T (p.Gly315Val) c.323G>T (p.Gly108Val) c.938G>T (p.Gly313Val) c.197G>T (p.Gly66Val) | dbSNP |
| 8 | g.11755078G>A | CA459313458 | GATA4 | c.942G>A (p.Gly314=) c.945G>A (p.Gly315=) c.324G>A (p.Gly108=) c.939G>A (p.Gly313=) c.198G>A (p.Gly66=) | |
| 8 | g.11755078G>C | CA4630765 | GATA4 | c.942G>C (p.Gly314=) c.945G>C (p.Gly315=) c.324G>C (p.Gly108=) c.939G>C (p.Gly313=) c.198G>C (p.Gly66=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11755078G= | CA1764070144 | GATA4 | c.942G= (p.Gly314=) c.945G= (p.Gly315=) c.324G= (p.Gly108=) c.939G= (p.Gly313=) c.198G= (p.Gly66=) | |
| 8 | g.11755078G>T | CA459313459 | GATA4 | c.942G>T (p.Gly314=) c.945G>T (p.Gly315=) c.324G>T (p.Gly108=) c.939G>T (p.Gly313=) c.198G>T (p.Gly66=) | gnomAD v4 |
| 8 | g.11755079A>C | CA370314420 | GATA4 | c.943A>C (p.Ile315Leu) c.946A>C (p.Ile316Leu) c.325A>C (p.Ile109Leu) c.940A>C (p.Ile314Leu) c.199A>C (p.Ile67Leu) | |
| 8 | g.11755079A>G | CA370314422 | GATA4 | c.943A>G (p.Ile315Val) c.946A>G (p.Ile316Val) c.325A>G (p.Ile109Val) c.940A>G (p.Ile314Val) c.199A>G (p.Ile67Val) | |
| 8 | g.11755079A>T | CA370314423 | GATA4 | c.943A>T (p.Ile315Phe) c.946A>T (p.Ile316Phe) c.325A>T (p.Ile109Phe) c.940A>T (p.Ile314Phe) c.199A>T (p.Ile67Phe) | |
| 8 | g.11755080T>A | CA370314425 | GATA4 | c.944T>A (p.Ile315Asn) c.947T>A (p.Ile316Asn) c.326T>A (p.Ile109Asn) c.941T>A (p.Ile314Asn) c.200T>A (p.Ile67Asn) | |
| 8 | g.11755080T>C | CA370314427 | GATA4 | c.944T>C (p.Ile315Thr) c.947T>C (p.Ile316Thr) c.326T>C (p.Ile109Thr) c.941T>C (p.Ile314Thr) c.200T>C (p.Ile67Thr) | |
| 8 | g.11755080T>G | CA370314428 | GATA4 | c.944T>G (p.Ile315Ser) c.947T>G (p.Ile316Ser) c.326T>G (p.Ile109Ser) c.941T>G (p.Ile314Ser) c.200T>G (p.Ile67Ser) | |
| 8 | g.11755081C>A | CA459313462 | GATA4 | c.945C>A (p.Ile315=) c.948C>A (p.Ile316=) c.327C>A (p.Ile109=) c.942C>A (p.Ile314=) c.201C>A (p.Ile67=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11755081C= | CA1764070148 | GATA4 | c.945C= (p.Ile315=) c.948C= (p.Ile316=) c.327C= (p.Ile109=) c.942C= (p.Ile314=) c.201C= (p.Ile67=) | |
| 8 | g.11755081C>G | CA370314429 | GATA4 | c.945C>G (p.Ile315Met) c.948C>G (p.Ile316Met) c.327C>G (p.Ile109Met) c.942C>G (p.Ile314Met) c.201C>G (p.Ile67Met) | dbSNP |
| 8 | g.11755081C>T | CA459313463 | GATA4 | c.945C>T (p.Ile315=) c.948C>T (p.Ile316=) c.327C>T (p.Ile109=) c.942C>T (p.Ile314=) c.201C>T (p.Ile67=) | |
| 8 | g.11755082C>A | CA370314432 | GATA4 | c.946C>A (p.Gln316Lys) c.949C>A (p.Gln317Lys) c.328C>A (p.Gln110Lys) c.943C>A (p.Gln315Lys) c.202C>A (p.Gln68Lys) | |
| 8 | g.11755082C= | CA1764070152 | GATA4 | c.946C= (p.Gln316=) c.949C= (p.Gln317=) c.328C= (p.Gln110=) c.943C= (p.Gln315=) c.202C= (p.Gln68=) | |
| 8 | g.11755082C>G | CA212663 | GATA4 | c.946C>G (p.Gln316Glu) c.949C>G (p.Gln317Glu) c.328C>G (p.Gln110Glu) c.943C>G (p.Gln315Glu) c.202C>G (p.Gln68Glu) | ClinVar dbSNP |
| 8 | g.11755082C>T | CA4630766 | GATA4 | c.946C>T (p.Gln316Ter) c.949C>T (p.Gln317Ter) c.328C>T (p.Gln110Ter) c.943C>T (p.Gln315Ter) c.202C>T (p.Gln68Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11755083A>C | CA370314433 | GATA4 | c.947A>C (p.Gln316Pro) c.950A>C (p.Gln317Pro) c.329A>C (p.Gln110Pro) c.944A>C (p.Gln315Pro) c.203A>C (p.Gln68Pro) | |
| 8 | g.11755083A>G | CA370314434 | GATA4 | c.947A>G (p.Gln316Arg) c.950A>G (p.Gln317Arg) c.329A>G (p.Gln110Arg) c.944A>G (p.Gln315Arg) c.203A>G (p.Gln68Arg) | |
| 8 | g.11755083A>T | CA370314436 | GATA4 | c.947A>T (p.Gln316Leu) c.950A>T (p.Gln317Leu) c.329A>T (p.Gln110Leu) c.944A>T (p.Gln315Leu) c.203A>T (p.Gln68Leu) | |
| 8 | g.11755084A= | CA1764070158 | GATA4 | c.948A= (p.Gln316=) c.951A= (p.Gln317=) c.330A= (p.Gln110=) c.945A= (p.Gln315=) c.204A= (p.Gln68=) | |
| 8 | g.11755084A>C | CA370314438 | GATA4 | c.948A>C (p.Gln316His) c.951A>C (p.Gln317His) c.330A>C (p.Gln110His) c.945A>C (p.Gln315His) c.204A>C (p.Gln68His) | |
| 8 | g.11755084A>G | CA459313465 | GATA4 | c.948A>G (p.Gln316=) c.951A>G (p.Gln317=) c.330A>G (p.Gln110=) c.945A>G (p.Gln315=) c.204A>G (p.Gln68=) | dbSNP gnomAD v4 |
| 8 | g.11755084A>T | CA370314440 | GATA4 | c.948A>T (p.Gln316His) c.951A>T (p.Gln317His) c.330A>T (p.Gln110His) c.945A>T (p.Gln315His) c.204A>T (p.Gln68His) | |
| 8 | g.11755085A>C | CA370314441 | GATA4 | c.949A>C (p.Thr317Pro) c.952A>C (p.Thr318Pro) c.331A>C (p.Thr111Pro) c.946A>C (p.Thr316Pro) c.205A>C (p.Thr69Pro) | |
| 8 | g.11755085A>G | CA370314442 | GATA4 | c.949A>G (p.Thr317Ala) c.952A>G (p.Thr318Ala) c.331A>G (p.Thr111Ala) c.946A>G (p.Thr316Ala) c.205A>G (p.Thr69Ala) | |
| 8 | g.11755085A>T | CA370314444 | GATA4 | c.949A>T (p.Thr317Ser) c.952A>T (p.Thr318Ser) c.331A>T (p.Thr111Ser) c.946A>T (p.Thr316Ser) c.205A>T (p.Thr69Ser) | |
| 8 | g.11755086C>A | CA370314445 | GATA4 | c.950C>A (p.Thr317Asn) c.953C>A (p.Thr318Asn) c.332C>A (p.Thr111Asn) c.947C>A (p.Thr316Asn) c.206C>A (p.Thr69Asn) | |
| 8 | g.11755086C= | CA1764070161 | GATA4 | c.950C= (p.Thr317=) c.953C= (p.Thr318=) c.332C= (p.Thr111=) c.947C= (p.Thr316=) c.206C= (p.Thr69=) | |
| 8 | g.11755086C>G | CA370314447 | GATA4 | c.950C>G (p.Thr317Ser) c.953C>G (p.Thr318Ser) c.332C>G (p.Thr111Ser) c.947C>G (p.Thr316Ser) c.206C>G (p.Thr69Ser) | gnomAD v4 |
| 8 | g.11755086C>T | CA370314448 | GATA4 | c.950C>T (p.Thr317Ile) c.953C>T (p.Thr318Ile) c.332C>T (p.Thr111Ile) c.947C>T (p.Thr316Ile) c.206C>T (p.Thr69Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.11755087C>A | CA459313468 | GATA4 | c.951C>A (p.Thr317=) c.954C>A (p.Thr318=) c.333C>A (p.Thr111=) c.948C>A (p.Thr316=) c.207C>A (p.Thr69=) | |
| 8 | g.11755087C>G | CA459313469 | GATA4 | c.951C>G (p.Thr317=) c.954C>G (p.Thr318=) c.333C>G (p.Thr111=) c.948C>G (p.Thr316=) c.207C>G (p.Thr69=) | |
| 8 | g.11755087C>T | CA459313470 | GATA4 | c.951C>T (p.Thr317=) c.954C>T (p.Thr318=) c.333C>T (p.Thr111=) c.948C>T (p.Thr316=) c.207C>T (p.Thr69=) | |
| 8 | g.11755088A>C | CA459313472 | GATA4 | c.952A>C (p.Arg318=) c.955A>C (p.Arg319=) c.334A>C (p.Arg112=) c.949A>C (p.Arg317=) c.208A>C (p.Arg70=) | gnomAD v4 |
| 8 | g.11755088A>G | CA370314449 | GATA4 | c.952A>G (p.Arg318Gly) c.955A>G (p.Arg319Gly) c.334A>G (p.Arg112Gly) c.949A>G (p.Arg317Gly) c.208A>G (p.Arg70Gly) | |
| 8 | g.11755088A>T | CA370314450 | GATA4 | c.952A>T (p.Arg318Ter) c.955A>T (p.Arg319Ter) c.334A>T (p.Arg112Ter) c.949A>T (p.Arg317Ter) c.208A>T (p.Arg70Ter) | |
| 8 | g.11755089G>A | CA370314453 | GATA4 | c.953G>A (p.Arg318Lys) c.956G>A (p.Arg319Lys) c.335G>A (p.Arg112Lys) c.950G>A (p.Arg317Lys) c.209G>A (p.Arg70Lys) | ClinVar dbSNP |
| 8 | g.11755089G>C | CA370314455 | GATA4 | c.953G>C (p.Arg318Thr) c.956G>C (p.Arg319Thr) c.335G>C (p.Arg112Thr) c.950G>C (p.Arg317Thr) c.209G>C (p.Arg70Thr) | |
| 8 | g.11755089G= | CA1764070165 | GATA4 | c.953G= (p.Arg318=) c.956G= (p.Arg319=) c.335G= (p.Arg112=) c.950G= (p.Arg317=) c.209G= (p.Arg70=) | |
| 8 | g.11755089G>T | CA370314452 | GATA4 | c.953G>T (p.Arg318Ile) c.956G>T (p.Arg319Ile) c.335G>T (p.Arg112Ile) c.950G>T (p.Arg317Ile) c.209G>T (p.Arg70Ile) |