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 |
|---|---|---|---|---|---|
| 8 | g.11758419G>A | CA204708 | GATA4 | c.1273G>A (p.Asp425Asn) c.1276G>A (p.Asp426Asn) n.718G>A c.655G>A (p.Asp219Asn) c.1270G>A (p.Asp424Asn) c.529G>A (p.Asp177Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.11758419G>C | CA370315782 | GATA4 | c.1273G>C (p.Asp425His) c.1276G>C (p.Asp426His) n.718G>C c.655G>C (p.Asp219His) c.1270G>C (p.Asp424His) c.529G>C (p.Asp177His) | |
| 8 | g.11758419G= | CA1764074306 | GATA4 | c.1273G= (p.Asp425=) c.1276G= (p.Asp426=) n.718G= c.655G= (p.Asp219=) c.1270G= (p.Asp424=) c.529G= (p.Asp177=) | |
| 8 | g.11758419G>T | CA172121496 | GATA4 | c.1273G>T (p.Asp425Tyr) c.1276G>T (p.Asp426Tyr) n.718G>T c.655G>T (p.Asp219Tyr) c.1270G>T (p.Asp424Tyr) c.529G>T (p.Asp177Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758420A>C | CA370315783 | GATA4 | c.1274A>C (p.Asp425Ala) c.1277A>C (p.Asp426Ala) n.719A>C c.656A>C (p.Asp219Ala) c.1271A>C (p.Asp424Ala) c.530A>C (p.Asp177Ala) | |
| 8 | g.11758420A>G | CA370315784 | GATA4 | c.1274A>G (p.Asp425Gly) c.1277A>G (p.Asp426Gly) n.719A>G c.656A>G (p.Asp219Gly) c.1271A>G (p.Asp424Gly) c.530A>G (p.Asp177Gly) | gnomAD v4 |
| 8 | g.11758420A>T | CA370315785 | GATA4 | c.1274A>T (p.Asp425Val) c.1277A>T (p.Asp426Val) n.719A>T c.656A>T (p.Asp219Val) c.1271A>T (p.Asp424Val) c.530A>T (p.Asp177Val) | |
| 8 | g.11758421C>A | CA370315786 | GATA4 | c.1275C>A (p.Asp425Glu) c.1278C>A (p.Asp426Glu) n.720C>A c.657C>A (p.Asp219Glu) c.1272C>A (p.Asp424Glu) c.531C>A (p.Asp177Glu) | |
| 8 | g.11758421C= | CA1764074310 | GATA4 | c.1275C= (p.Asp425=) c.1278C= (p.Asp426=) n.720C= c.657C= (p.Asp219=) c.1272C= (p.Asp424=) c.531C= (p.Asp177=) | |
| 8 | g.11758421C>G | CA370315787 | GATA4 | c.1275C>G (p.Asp425Glu) c.1278C>G (p.Asp426Glu) n.720C>G c.657C>G (p.Asp219Glu) c.1272C>G (p.Asp424Glu) c.531C>G (p.Asp177Glu) | |
| 8 | g.11758421C>T | CA459314390 | GATA4 | c.1275C>T (p.Asp425=) c.1278C>T (p.Asp426=) n.720C>T c.657C>T (p.Asp219=) c.1272C>T (p.Asp424=) c.531C>T (p.Asp177=) | dbSNP |
| 8 | g.11758422T>A | CA370315788 | GATA4 | c.1276T>A (p.Ser426Thr) c.1279T>A (p.Ser427Thr) n.721T>A c.658T>A (p.Ser220Thr) c.1273T>A (p.Ser425Thr) c.532T>A (p.Ser178Thr) | |
| 8 | g.11758422T>C | CA370315789 | GATA4 | c.1276T>C (p.Ser426Pro) c.1279T>C (p.Ser427Pro) n.721T>C c.658T>C (p.Ser220Pro) c.1273T>C (p.Ser425Pro) c.532T>C (p.Ser178Pro) | |
| 8 | g.11758422T>G | CA370315790 | GATA4 | c.1276T>G (p.Ser426Ala) c.1279T>G (p.Ser427Ala) n.721T>G c.658T>G (p.Ser220Ala) c.1273T>G (p.Ser425Ala) c.532T>G (p.Ser178Ala) | |
| 8 | g.11758423C>A | CA370315792 | GATA4 | c.1277C>A (p.Ser426Tyr) c.1280C>A (p.Ser427Tyr) n.722C>A c.659C>A (p.Ser220Tyr) c.1274C>A (p.Ser425Tyr) c.533C>A (p.Ser178Tyr) | |
| 8 | g.11758423C>G | CA370315793 | GATA4 | c.1277C>G (p.Ser426Cys) c.1280C>G (p.Ser427Cys) n.722C>G c.659C>G (p.Ser220Cys) c.1274C>G (p.Ser425Cys) c.533C>G (p.Ser178Cys) | |
| 8 | g.11758423C>T | CA370315791 | GATA4 | c.1277C>T (p.Ser426Phe) c.1280C>T (p.Ser427Phe) n.722C>T c.659C>T (p.Ser220Phe) c.1274C>T (p.Ser425Phe) c.533C>T (p.Ser178Phe) | |
| 8 | g.11758424T>A | CA459314399 | GATA4 | c.1278T>A (p.Ser426=) c.1281T>A (p.Ser427=) n.723T>A c.660T>A (p.Ser220=) c.1275T>A (p.Ser425=) c.534T>A (p.Ser178=) | |
| 8 | g.11758424T>C | CA459314400 | GATA4 | c.1278T>C (p.Ser426=) c.1281T>C (p.Ser427=) n.723T>C c.660T>C (p.Ser220=) c.1275T>C (p.Ser425=) c.534T>C (p.Ser178=) | dbSNP gnomAD v4 |
| 8 | g.11758424T>G | CA459314402 | GATA4 | c.1278T>G (p.Ser426=) c.1281T>G (p.Ser427=) n.723T>G c.660T>G (p.Ser220=) c.1275T>G (p.Ser425=) c.534T>G (p.Ser178=) | |
| 8 | g.11758424T= | CA1764074312 | GATA4 | c.1278T= (p.Ser426=) c.1281T= (p.Ser427=) n.723T= c.660T= (p.Ser220=) c.1275T= (p.Ser425=) c.534T= (p.Ser178=) | |
| 8 | g.11758425T>A | CA370315795 | GATA4 | c.1279T>A (p.Trp427Arg) c.1282T>A (p.Trp428Arg) n.724T>A c.661T>A (p.Trp221Arg) c.1276T>A (p.Trp426Arg) c.535T>A (p.Trp179Arg) | |
| 8 | g.11758425T>C | CA370315794 | GATA4 | c.1279T>C (p.Trp427Arg) c.1282T>C (p.Trp428Arg) n.724T>C c.661T>C (p.Trp221Arg) c.1276T>C (p.Trp426Arg) c.535T>C (p.Trp179Arg) | |
| 8 | g.11758425T>G | CA370315796 | GATA4 | c.1279T>G (p.Trp427Gly) c.1282T>G (p.Trp428Gly) n.724T>G c.661T>G (p.Trp221Gly) c.1276T>G (p.Trp426Gly) c.535T>G (p.Trp179Gly) | |
| 8 | g.11758426G>A | CA370315797 | GATA4 | c.1280G>A (p.Trp427Ter) c.1283G>A (p.Trp428Ter) n.725G>A c.662G>A (p.Trp221Ter) c.1277G>A (p.Trp426Ter) c.536G>A (p.Trp179Ter) | gnomAD v4 COSMIC |
| 8 | g.11758426G>C | CA370315798 | GATA4 | c.1280G>C (p.Trp427Ser) c.1283G>C (p.Trp428Ser) n.725G>C c.662G>C (p.Trp221Ser) c.1277G>C (p.Trp426Ser) c.536G>C (p.Trp179Ser) | |
| 8 | g.11758426G>T | CA370315799 | GATA4 | c.1280G>T (p.Trp427Leu) c.1283G>T (p.Trp428Leu) n.725G>T c.662G>T (p.Trp221Leu) c.1277G>T (p.Trp426Leu) c.536G>T (p.Trp179Leu) | |
| 8 | g.11758427G>A | CA370315800 | GATA4 | c.1281G>A (p.Trp427Ter) c.1284G>A (p.Trp428Ter) n.726G>A c.663G>A (p.Trp221Ter) c.1278G>A (p.Trp426Ter) c.537G>A (p.Trp179Ter) | dbSNP |
| 8 | g.11758427G>C | CA370315801 | GATA4 | c.1281G>C (p.Trp427Cys) c.1284G>C (p.Trp428Cys) n.726G>C c.663G>C (p.Trp221Cys) c.1278G>C (p.Trp426Cys) c.537G>C (p.Trp179Cys) | |
| 8 | g.11758427G= | CA1764074315 | GATA4 | c.1281G= (p.Trp427=) c.1284G= (p.Trp428=) n.726G= c.663G= (p.Trp221=) c.1278G= (p.Trp426=) c.537G= (p.Trp179=) | |
| 8 | g.11758427G>T | CA370315802 | GATA4 | c.1281G>T (p.Trp427Cys) c.1284G>T (p.Trp428Cys) n.726G>T c.663G>T (p.Trp221Cys) c.1278G>T (p.Trp426Cys) c.537G>T (p.Trp179Cys) | |
| 8 | g.11758428A= | CA1764074321 | GATA4 | c.1282A= (p.Asn428=) c.1285A= (p.Asn429=) n.727A= c.664A= (p.Asn222=) c.1279A= (p.Asn427=) c.538A= (p.Asn180=) | |
| 8 | g.11758428A>C | CA370315803 | GATA4 | c.1282A>C (p.Asn428His) c.1285A>C (p.Asn429His) n.727A>C c.664A>C (p.Asn222His) c.1279A>C (p.Asn427His) c.538A>C (p.Asn180His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758428A>G | CA370315804 | GATA4 | c.1282A>G (p.Asn428Asp) c.1285A>G (p.Asn429Asp) n.727A>G c.664A>G (p.Asn222Asp) c.1279A>G (p.Asn427Asp) c.538A>G (p.Asn180Asp) | |
| 8 | g.11758428A>T | CA370315805 | GATA4 | c.1282A>T (p.Asn428Tyr) c.1285A>T (p.Asn429Tyr) n.727A>T c.664A>T (p.Asn222Tyr) c.1279A>T (p.Asn427Tyr) c.538A>T (p.Asn180Tyr) | |
| 8 | g.11758429A= | CA1764074327 | GATA4 | c.1283A= (p.Asn428=) c.1286A= (p.Asn429=) n.728A= c.665A= (p.Asn222=) c.1280A= (p.Asn427=) c.539A= (p.Asn180=) | |
| 8 | g.11758429A>C | CA172121516 | GATA4 | c.1283A>C (p.Asn428Thr) c.1286A>C (p.Asn429Thr) n.728A>C c.665A>C (p.Asn222Thr) c.1280A>C (p.Asn427Thr) c.539A>C (p.Asn180Thr) | dbSNP |
| 8 | g.11758429A>G | CA370315806 | GATA4 | c.1283A>G (p.Asn428Ser) c.1286A>G (p.Asn429Ser) n.728A>G c.665A>G (p.Asn222Ser) c.1280A>G (p.Asn427Ser) c.539A>G (p.Asn180Ser) | ClinVar dbSNP |
| 8 | g.11758429A>T | CA370315807 | GATA4 | c.1283A>T (p.Asn428Ile) c.1286A>T (p.Asn429Ile) n.728A>T c.665A>T (p.Asn222Ile) c.1280A>T (p.Asn427Ile) c.539A>T (p.Asn180Ile) | |
| 8 | g.11758430C>A | CA370315808 | GATA4 | c.1284C>A (p.Asn428Lys) c.1287C>A (p.Asn429Lys) n.729C>A c.666C>A (p.Asn222Lys) c.1281C>A (p.Asn427Lys) c.540C>A (p.Asn180Lys) | |
| 8 | g.11758430C>G | CA370315809 | GATA4 | c.1284C>G (p.Asn428Lys) c.1287C>G (p.Asn429Lys) n.729C>G c.666C>G (p.Asn222Lys) c.1281C>G (p.Asn427Lys) c.540C>G (p.Asn180Lys) | |
| 8 | g.11758430C>T | CA459314427 | GATA4 | c.1284C>T (p.Asn428=) c.1287C>T (p.Asn429=) n.729C>T c.666C>T (p.Asn222=) c.1281C>T (p.Asn427=) c.540C>T (p.Asn180=) | gnomAD v4 |
| 8 | g.11758431A= | CA1764074331 | GATA4 | c.1285A= (p.Ser429=) c.1288A= (p.Ser430=) n.730A= c.667A= (p.Ser223=) c.1282A= (p.Ser428=) c.541A= (p.Ser181=) | |
| 8 | g.11758431A>C | CA370315810 | GATA4 | c.1285A>C (p.Ser429Arg) c.1288A>C (p.Ser430Arg) n.730A>C c.667A>C (p.Ser223Arg) c.1282A>C (p.Ser428Arg) c.541A>C (p.Ser181Arg) | |
| 8 | g.11758431A>G | CA4630902 | GATA4 | c.1285A>G (p.Ser429Gly) c.1288A>G (p.Ser430Gly) n.730A>G c.667A>G (p.Ser223Gly) c.1282A>G (p.Ser428Gly) c.541A>G (p.Ser181Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11758431A>T | CA370315811 | GATA4 | c.1285A>T (p.Ser429Cys) c.1288A>T (p.Ser430Cys) n.730A>T c.667A>T (p.Ser223Cys) c.1282A>T (p.Ser428Cys) c.541A>T (p.Ser181Cys) | |
| 8 | g.11758432G>A | CA370315812 | GATA4 | c.1286G>A (p.Ser429Asn) c.1289G>A (p.Ser430Asn) n.731G>A c.668G>A (p.Ser223Asn) c.1283G>A (p.Ser428Asn) c.542G>A (p.Ser181Asn) | ClinVar |
| 8 | g.11758432G>C | CA370315813 | GATA4 | c.1286G>C (p.Ser429Thr) c.1289G>C (p.Ser430Thr) n.731G>C c.668G>C (p.Ser223Thr) c.1283G>C (p.Ser428Thr) c.542G>C (p.Ser181Thr) | gnomAD v4 |
| 8 | g.11758432G>T | CA370315814 | GATA4 | c.1286G>T (p.Ser429Ile) c.1289G>T (p.Ser430Ile) n.731G>T c.668G>T (p.Ser223Ile) c.1283G>T (p.Ser428Ile) c.542G>T (p.Ser181Ile) | |
| 8 | g.11758433C>A | CA4630903 | GATA4 | c.1287C>A (p.Ser429Arg) c.1290C>A (p.Ser430Arg) n.732C>A c.669C>A (p.Ser223Arg) c.1284C>A (p.Ser428Arg) c.543C>A (p.Ser181Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |