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.11758371G>A | CA370315681 | GATA4 | c.1225G>A (p.Gly409Ser) c.1228G>A (p.Gly410Ser) n.670G>A c.607G>A (p.Gly203Ser) c.1222G>A (p.Gly408Ser) c.481G>A (p.Gly161Ser) | |
| 8 | g.11758371G>C | CA370315683 | GATA4 | c.1225G>C (p.Gly409Arg) c.1228G>C (p.Gly410Arg) n.670G>C c.607G>C (p.Gly203Arg) c.1222G>C (p.Gly408Arg) c.481G>C (p.Gly161Arg) | gnomAD v4 |
| 8 | g.11758371G>T | CA370315682 | GATA4 | c.1225G>T (p.Gly409Cys) c.1228G>T (p.Gly410Cys) n.670G>T c.607G>T (p.Gly203Cys) c.1222G>T (p.Gly408Cys) c.481G>T (p.Gly161Cys) | |
| 8 | g.11758372G>A | CA370315684 | GATA4 | c.1226G>A (p.Gly409Asp) c.1229G>A (p.Gly410Asp) n.671G>A c.608G>A (p.Gly203Asp) c.1223G>A (p.Gly408Asp) c.482G>A (p.Gly161Asp) | gnomAD v4 |
| 8 | g.11758372G>C | CA370315686 | GATA4 | c.1226G>C (p.Gly409Ala) c.1229G>C (p.Gly410Ala) n.671G>C c.608G>C (p.Gly203Ala) c.1223G>C (p.Gly408Ala) c.482G>C (p.Gly161Ala) | gnomAD v4 |
| 8 | g.11758372G>T | CA370315685 | GATA4 | c.1226G>T (p.Gly409Val) c.1229G>T (p.Gly410Val) n.671G>T c.608G>T (p.Gly203Val) c.1223G>T (p.Gly408Val) c.482G>T (p.Gly161Val) | |
| 8 | g.11758373C>A | CA459314120 | GATA4 | c.1227C>A (p.Gly409=) c.1230C>A (p.Gly410=) n.672C>A c.609C>A (p.Gly203=) c.1224C>A (p.Gly408=) c.483C>A (p.Gly161=) | |
| 8 | g.11758373C>G | CA459314122 | GATA4 | c.1227C>G (p.Gly409=) c.1230C>G (p.Gly410=) n.672C>G c.609C>G (p.Gly203=) c.1224C>G (p.Gly408=) c.483C>G (p.Gly161=) | |
| 8 | g.11758373C>T | CA459314121 | GATA4 | c.1227C>T (p.Gly409=) c.1230C>T (p.Gly410=) n.672C>T c.609C>T (p.Gly203=) c.1224C>T (p.Gly408=) c.483C>T (p.Gly161=) | gnomAD v4 |
| 8 | g.11758374T>A | CA370315687 | GATA4 | c.1228T>A (p.Tyr410Asn) c.1231T>A (p.Tyr411Asn) n.673T>A c.610T>A (p.Tyr204Asn) c.1225T>A (p.Tyr409Asn) c.484T>A (p.Tyr162Asn) | |
| 8 | g.11758374T>C | CA4630893 | GATA4 | c.1228T>C (p.Tyr410His) c.1231T>C (p.Tyr411His) n.673T>C c.610T>C (p.Tyr204His) c.1225T>C (p.Tyr409His) c.484T>C (p.Tyr162His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758374T>G | CA370315688 | GATA4 | c.1228T>G (p.Tyr410Asp) c.1231T>G (p.Tyr411Asp) n.673T>G c.610T>G (p.Tyr204Asp) c.1225T>G (p.Tyr409Asp) c.484T>G (p.Tyr162Asp) | |
| 8 | g.11758374T= | CA1764074213 | GATA4 | c.1228T= (p.Tyr410=) c.1231T= (p.Tyr411=) n.673T= c.610T= (p.Tyr204=) c.1225T= (p.Tyr409=) c.484T= (p.Tyr162=) | |
| 8 | g.11758375A= | CA1764074223 | GATA4 | c.1229A= (p.Tyr410=) c.1232A= (p.Tyr411=) n.674A= c.611A= (p.Tyr204=) c.1226A= (p.Tyr409=) c.485A= (p.Tyr162=) | |
| 8 | g.11758375A>C | CA370315689 | GATA4 | c.1229A>C (p.Tyr410Ser) c.1232A>C (p.Tyr411Ser) n.674A>C c.611A>C (p.Tyr204Ser) c.1226A>C (p.Tyr409Ser) c.485A>C (p.Tyr162Ser) | |
| 8 | g.11758375A>G | CA370315690 | GATA4 | c.1229A>G (p.Tyr410Cys) c.1232A>G (p.Tyr411Cys) n.674A>G c.611A>G (p.Tyr204Cys) c.1226A>G (p.Tyr409Cys) c.485A>G (p.Tyr162Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.11758375A>T | CA172121445 | GATA4 | c.1229A>T (p.Tyr410Phe) c.1232A>T (p.Tyr411Phe) n.674A>T c.611A>T (p.Tyr204Phe) c.1226A>T (p.Tyr409Phe) c.485A>T (p.Tyr162Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758376T>A | CA370315691 | GATA4 | c.1230T>A (p.Tyr410Ter) c.1233T>A (p.Tyr411Ter) n.675T>A c.612T>A (p.Tyr204Ter) c.1227T>A (p.Tyr409Ter) c.486T>A (p.Tyr162Ter) | |
| 8 | g.11758376T>C | CA459314128 | GATA4 | c.1230T>C (p.Tyr410=) c.1233T>C (p.Tyr411=) n.675T>C c.612T>C (p.Tyr204=) c.1227T>C (p.Tyr409=) c.486T>C (p.Tyr162=) | gnomAD v4 |
| 8 | g.11758376T>G | CA370315692 | GATA4 | c.1230T>G (p.Tyr410Ter) c.1233T>G (p.Tyr411Ter) n.675T>G c.612T>G (p.Tyr204Ter) c.1227T>G (p.Tyr409Ter) c.486T>G (p.Tyr162Ter) | |
| 8 | g.11758377G>A | CA370315693 | GATA4 | c.1231G>A (p.Ala411Thr) c.1234G>A (p.Ala412Thr) n.676G>A c.613G>A (p.Ala205Thr) c.1228G>A (p.Ala410Thr) c.487G>A (p.Ala163Thr) | |
| 8 | g.11758377G>C | CA370315694 | GATA4 | c.1231G>C (p.Ala411Pro) c.1234G>C (p.Ala412Pro) n.676G>C c.613G>C (p.Ala205Pro) c.1228G>C (p.Ala410Pro) c.487G>C (p.Ala163Pro) | |
| 8 | g.11758377G>T | CA370315695 | GATA4 | c.1231G>T (p.Ala411Ser) c.1234G>T (p.Ala412Ser) n.676G>T c.613G>T (p.Ala205Ser) c.1228G>T (p.Ala410Ser) c.487G>T (p.Ala163Ser) | |
| 8 | g.11758378C>A | CA370315696 | GATA4 | c.1232C>A (p.Ala411Glu) c.1235C>A (p.Ala412Glu) n.677C>A c.614C>A (p.Ala205Glu) c.1229C>A (p.Ala410Glu) c.488C>A (p.Ala163Glu) | |
| 8 | g.11758378C= | CA1764074232 | GATA4 | c.1232C= (p.Ala411=) c.1235C= (p.Ala412=) n.677C= c.614C= (p.Ala205=) c.1229C= (p.Ala410=) c.488C= (p.Ala163=) | |
| 8 | g.11758378C>G | CA370315697 | GATA4 | c.1232C>G (p.Ala411Gly) c.1235C>G (p.Ala412Gly) n.677C>G c.614C>G (p.Ala205Gly) c.1229C>G (p.Ala410Gly) c.488C>G (p.Ala163Gly) | |
| 8 | g.11758378C>T | CA4630894 | GATA4 | c.1232C>T (p.Ala411Val) c.1235C>T (p.Ala412Val) n.677C>T c.614C>T (p.Ala205Val) c.1229C>T (p.Ala410Val) c.488C>T (p.Ala163Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.11758379G>A | CA4630895 | GATA4 | c.1233G>A (p.Ala411=) c.1236G>A (p.Ala412=) n.678G>A c.615G>A (p.Ala205=) c.1230G>A (p.Ala410=) c.489G>A (p.Ala163=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.11758379G>C | CA459314135 | GATA4 | c.1233G>C (p.Ala411=) c.1236G>C (p.Ala412=) n.678G>C c.615G>C (p.Ala205=) c.1230G>C (p.Ala410=) c.489G>C (p.Ala163=) | |
| 8 | g.11758379G= | CA1764074237 | GATA4 | c.1233G= (p.Ala411=) c.1236G= (p.Ala412=) n.678G= c.615G= (p.Ala205=) c.1230G= (p.Ala410=) c.489G= (p.Ala163=) | |
| 8 | g.11758379G>T | CA459314137 | GATA4 | c.1233G>T (p.Ala411=) c.1236G>T (p.Ala412=) n.678G>T c.615G>T (p.Ala205=) c.1230G>T (p.Ala410=) c.489G>T (p.Ala163=) | gnomAD v4 |
| 8 | g.11758380del | CA2579823151 | GATA4 | c.1234del (p.Ser412LeufsTer28) c.1237del (p.Ser413LeufsTer28) n.679del c.616del (p.Ser206LeufsTer28) c.1231del (p.Ser411LeufsTer28) c.490del (p.Ser164LeufsTer28) | |
| 8 | g.11758380T>A | CA370315698 | GATA4 | c.1234T>A (p.Ser412Thr) c.1237T>A (p.Ser413Thr) n.679T>A c.616T>A (p.Ser206Thr) c.1231T>A (p.Ser411Thr) c.490T>A (p.Ser164Thr) | |
| 8 | g.11758380T>C | CA370315699 | GATA4 | c.1234T>C (p.Ser412Pro) c.1237T>C (p.Ser413Pro) n.679T>C c.616T>C (p.Ser206Pro) c.1231T>C (p.Ser411Pro) c.490T>C (p.Ser164Pro) | |
| 8 | g.11758380T>G | CA370315700 | GATA4 | c.1234T>G (p.Ser412Ala) c.1237T>G (p.Ser413Ala) n.679T>G c.616T>G (p.Ser206Ala) c.1231T>G (p.Ser411Ala) c.490T>G (p.Ser164Ala) | |
| 8 | g.11758381C>A | CA370315701 | GATA4 | c.1235C>A (p.Ser412Tyr) c.1238C>A (p.Ser413Tyr) n.680C>A c.617C>A (p.Ser206Tyr) c.1232C>A (p.Ser411Tyr) c.491C>A (p.Ser164Tyr) | |
| 8 | g.11758381C= | CA1764074243 | GATA4 | c.1235C= (p.Ser412=) c.1238C= (p.Ser413=) n.680C= c.617C= (p.Ser206=) c.1232C= (p.Ser411=) c.491C= (p.Ser164=) | |
| 8 | g.11758381C>G | CA4630896 | GATA4 | c.1235C>G (p.Ser412Cys) c.1238C>G (p.Ser413Cys) n.680C>G c.617C>G (p.Ser206Cys) c.1232C>G (p.Ser411Cys) c.491C>G (p.Ser164Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.11758381C>T | CA370315702 | GATA4 | c.1235C>T (p.Ser412Phe) c.1238C>T (p.Ser413Phe) n.680C>T c.617C>T (p.Ser206Phe) c.1232C>T (p.Ser411Phe) c.491C>T (p.Ser164Phe) | |
| 8 | g.11758382_11758391del | CA2695208951 | GATA4 | c.1236_1245del (p.Pro413SerfsTer24) c.1239_1248del (p.Pro414SerfsTer24) n.681_690del c.618_627del (p.Pro207SerfsTer24) c.1233_1242del (p.Pro412SerfsTer24) c.492_501del (p.Pro165SerfsTer24) | |
| 8 | g.11758382T>A | CA459314156 | GATA4 | c.1236T>A (p.Ser412=) c.1239T>A (p.Ser413=) n.681T>A c.618T>A (p.Ser206=) c.1233T>A (p.Ser411=) c.492T>A (p.Ser164=) | |
| 8 | g.11758382T>C | CA459314158 | GATA4 | c.1236T>C (p.Ser412=) c.1239T>C (p.Ser413=) n.681T>C c.618T>C (p.Ser206=) c.1233T>C (p.Ser411=) c.492T>C (p.Ser164=) | dbSNP |
| 8 | g.11758382T>G | CA459314160 | GATA4 | c.1236T>G (p.Ser412=) c.1239T>G (p.Ser413=) n.681T>G c.618T>G (p.Ser206=) c.1233T>G (p.Ser411=) c.492T>G (p.Ser164=) | |
| 8 | g.11758382T= | CA1764074247 | GATA4 | c.1236T= (p.Ser412=) c.1239T= (p.Ser413=) n.681T= c.618T= (p.Ser206=) c.1233T= (p.Ser411=) c.492T= (p.Ser164=) | |
| 8 | g.11758383C>A | CA370315703 | GATA4 | c.1237C>A (p.Pro413Thr) c.1240C>A (p.Pro414Thr) n.682C>A c.619C>A (p.Pro207Thr) c.1234C>A (p.Pro412Thr) c.493C>A (p.Pro165Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.11758383C= | CA1764074250 | GATA4 | c.1237C= (p.Pro413=) c.1240C= (p.Pro414=) n.682C= c.619C= (p.Pro207=) c.1234C= (p.Pro412=) c.493C= (p.Pro165=) | |
| 8 | g.11758383C>G | CA370315704 | GATA4 | c.1237C>G (p.Pro413Ala) c.1240C>G (p.Pro414Ala) n.682C>G c.619C>G (p.Pro207Ala) c.1234C>G (p.Pro412Ala) c.493C>G (p.Pro165Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.11758383C>T | CA370315705 | GATA4 | c.1237C>T (p.Pro413Ser) c.1240C>T (p.Pro414Ser) n.682C>T c.619C>T (p.Pro207Ser) c.1234C>T (p.Pro412Ser) c.493C>T (p.Pro165Ser) | |
| 8 | g.11758384C>A | CA370315706 | GATA4 | c.1238C>A (p.Pro413His) c.1241C>A (p.Pro414His) n.683C>A c.620C>A (p.Pro207His) c.1235C>A (p.Pro412His) c.494C>A (p.Pro165His) | |
| 8 | g.11758384C= | CA1764074255 | GATA4 | c.1238C= (p.Pro413=) c.1241C= (p.Pro414=) n.683C= c.620C= (p.Pro207=) c.1235C= (p.Pro412=) c.494C= (p.Pro165=) |