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 |
|---|---|---|---|---|---|
| 11 | g.2570656C>A | CA379129847 | KCNQ1 | c.245C>A (p.Thr82Lys) c.478-12779C>A (n.478-12779C>A) c.506C>A (p.Thr169Lys) c.125C>A (p.Thr42Lys) c.124-12779C>A (n.124-12779C>A) | |
| 11 | g.2570656C= | CA1948239501 | KCNQ1 | c.245C= (p.Thr82=) c.478-12779C= (n.478-12779C=) c.506C= (p.Thr169=) c.125C= (p.Thr42=) c.124-12779C= (n.124-12779C=) | |
| 11 | g.2570656C>G | CA007290 | KCNQ1 | c.245C>G (p.Thr82Arg) c.478-12779C>G (n.478-12779C>G) c.506C>G (p.Thr169Arg) c.125C>G (p.Thr42Arg) c.124-12779C>G (n.124-12779C>G) | ClinVar dbSNP |
| 11 | g.2570656C>T | CA038071 | KCNQ1 | c.245C>T (p.Thr82Met) c.478-12779C>T (n.478-12779C>T) c.506C>T (p.Thr169Met) c.125C>T (p.Thr42Met) c.124-12779C>T (n.124-12779C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570657G>A | CA038081 | KCNQ1 | c.246G>A (p.Thr82=) c.478-12778G>A (n.478-12778G>A) c.507G>A (p.Thr169=) c.126G>A (p.Thr42=) c.124-12778G>A (n.124-12778G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570657G>C | CA472037785 | KCNQ1 | c.246G>C (p.Thr82=) c.478-12778G>C (n.478-12778G>C) c.507G>C (p.Thr169=) c.126G>C (p.Thr42=) c.124-12778G>C (n.124-12778G>C) | |
| 11 | g.2570657G= | CA1948239511 | KCNQ1 | c.246G= (p.Thr82=) c.478-12778G= (n.478-12778G=) c.507G= (p.Thr169=) c.126G= (p.Thr42=) c.124-12778G= (n.124-12778G=) | |
| 11 | g.2570657G>T | CA472037786 | KCNQ1 | c.246G>T (p.Thr82=) c.478-12778G>T (n.478-12778G>T) c.507G>T (p.Thr169=) c.126G>T (p.Thr42=) c.124-12778G>T (n.124-12778G>T) | |
| 11 | g.2570658G>A | CA379129848 | KCNQ1 | c.247G>A (p.Glu83Lys) c.478-12777G>A (n.478-12777G>A) c.508G>A (p.Glu170Lys) c.127G>A (p.Glu43Lys) c.124-12777G>A (n.124-12777G>A) | COSMIC COSMIC |
| 11 | g.2570658G>C | CA379129849 | KCNQ1 | c.247G>C (p.Glu83Gln) c.478-12777G>C (n.478-12777G>C) c.508G>C (p.Glu170Gln) c.127G>C (p.Glu43Gln) c.124-12777G>C (n.124-12777G>C) | |
| 11 | g.2570658G>T | CA379129850 | KCNQ1 | c.247G>T (p.Glu83Ter) c.478-12777G>T (n.478-12777G>T) c.508G>T (p.Glu170Ter) c.127G>T (p.Glu43Ter) c.124-12777G>T (n.124-12777G>T) | gnomAD v4 |
| 11 | g.2570659A>C | CA379129853 | KCNQ1 | c.248A>C (p.Glu83Ala) c.478-12776A>C (n.478-12776A>C) c.509A>C (p.Glu170Ala) c.128A>C (p.Glu43Ala) c.124-12776A>C (n.124-12776A>C) | |
| 11 | g.2570659A>G | CA379129851 | KCNQ1 | c.248A>G (p.Glu83Gly) c.478-12776A>G (n.478-12776A>G) c.509A>G (p.Glu170Gly) c.128A>G (p.Glu43Gly) c.124-12776A>G (n.124-12776A>G) | ClinVar |
| 11 | g.2570659A>T | CA379129852 | KCNQ1 | c.248A>T (p.Glu83Val) c.478-12776A>T (n.478-12776A>T) c.509A>T (p.Glu170Val) c.128A>T (p.Glu43Val) c.124-12776A>T (n.124-12776A>T) | |
| 11 | g.2570659_2570660delinsAG | CA1948239517 | KCNQ1 | c.248_249delinsAG (p.Glu83=) c.478-12776_478-12775delinsAG (n.478-12776_478-12775delinsAG) c.509_510delinsAG (p.Glu170=) c.128_129delinsAG (p.Glu43=) c.124-12776_124-12775delinsAG (n.124-12776_124-12775delinsAG) | |
| 11 | g.2570660del | CA658797566 | KCNQ1 | c.249del (p.Glu83AspfsTer?) c.478-12775del (n.478-12775del) c.510del (p.Glu170AspfsTer?) c.129del (p.Glu43AspfsTer?) c.124-12775del (n.124-12775del) | ClinVar dbSNP |
| 11 | g.2570660G>A | CA472037787 | KCNQ1 | c.249G>A (p.Glu83=) c.478-12775G>A (n.478-12775G>A) c.510G>A (p.Glu170=) c.129G>A (p.Glu43=) c.124-12775G>A (n.124-12775G>A) | |
| 11 | g.2570660G>C | CA379129854 | KCNQ1 | c.249G>C (p.Glu83Asp) c.478-12775G>C (n.478-12775G>C) c.510G>C (p.Glu170Asp) c.129G>C (p.Glu43Asp) c.124-12775G>C (n.124-12775G>C) | |
| 11 | g.2570660G>T | CA379129855 | KCNQ1 | c.249G>T (p.Glu83Asp) c.478-12775G>T (n.478-12775G>T) c.510G>T (p.Glu170Asp) c.129G>T (p.Glu43Asp) c.124-12775G>T (n.124-12775G>T) | |
| 11 | g.2570661T>A | CA379129856 | KCNQ1 | c.250T>A (p.Tyr84Asn) c.478-12774T>A (n.478-12774T>A) c.511T>A (p.Tyr171Asn) c.130T>A (p.Tyr44Asn) c.124-12774T>A (n.124-12774T>A) | |
| 11 | g.2570661T>C | CA379129857 | KCNQ1 | c.250T>C (p.Tyr84His) c.478-12774T>C (n.478-12774T>C) c.511T>C (p.Tyr171His) c.130T>C (p.Tyr44His) c.124-12774T>C (n.124-12774T>C) | ClinVar dbSNP |
| 11 | g.2570661T>G | CA379129858 | KCNQ1 | c.250T>G (p.Tyr84Asp) c.478-12774T>G (n.478-12774T>G) c.511T>G (p.Tyr171Asp) c.130T>G (p.Tyr44Asp) c.124-12774T>G (n.124-12774T>G) | |
| 11 | g.2570661T= | CA1948239525 | KCNQ1 | c.250T= (p.Tyr84=) c.478-12774T= (n.478-12774T=) c.511T= (p.Tyr171=) c.130T= (p.Tyr44=) c.124-12774T= (n.124-12774T=) | |
| 11 | g.2570662A>C | CA379129861 | KCNQ1 | c.251A>C (p.Tyr84Ser) c.478-12773A>C (n.478-12773A>C) c.512A>C (p.Tyr171Ser) c.131A>C (p.Tyr44Ser) c.124-12773A>C (n.124-12773A>C) | |
| 11 | g.2570662A>G | CA379129860 | KCNQ1 | c.251A>G (p.Tyr84Cys) c.478-12773A>G (n.478-12773A>G) c.512A>G (p.Tyr171Cys) c.131A>G (p.Tyr44Cys) c.124-12773A>G (n.124-12773A>G) | |
| 11 | g.2570662A>T | CA379129859 | KCNQ1 | c.251A>T (p.Tyr84Phe) c.478-12773A>T (n.478-12773A>T) c.512A>T (p.Tyr171Phe) c.131A>T (p.Tyr44Phe) c.124-12773A>T (n.124-12773A>T) | |
| 11 | g.2570662_2570663delinsAC | CA1948239528 | KCNQ1 | c.251_252delinsAC (p.Tyr84=) c.478-12773_478-12772delinsAC (n.478-12773_478-12772delinsAC) c.512_513delinsAC (p.Tyr171=) c.131_132delinsAC (p.Tyr44=) c.124-12773_124-12772delinsAC (n.124-12773_124-12772delinsAC) | |
| 11 | g.2570663del | CA915947933 | KCNQ1 | c.252del (p.Tyr84Ter) c.478-12772del (n.478-12772del) c.513del (p.Tyr171Ter) c.132del (p.Tyr44Ter) c.124-12772del (n.124-12772del) | ClinVar dbSNP |
| 11 | g.2570663C>A | CA10588516 | KCNQ1 | c.252C>A (p.Tyr84Ter) c.478-12772C>A (n.478-12772C>A) c.513C>A (p.Tyr171Ter) c.132C>A (p.Tyr44Ter) c.124-12772C>A (n.124-12772C>A) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570663C= | CA1948239540 | KCNQ1 | c.252C= (p.Tyr84=) c.478-12772C= (n.478-12772C=) c.513C= (p.Tyr171=) c.132C= (p.Tyr44=) c.124-12772C= (n.124-12772C=) | |
| 11 | g.2570663C>G | CA007295 | KCNQ1 | c.252C>G (p.Tyr84Ter) c.478-12772C>G (n.478-12772C>G) c.513C>G (p.Tyr171Ter) c.132C>G (p.Tyr44Ter) c.124-12772C>G (n.124-12772C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570663C>T | CA007303 | KCNQ1 | c.252C>T (p.Tyr84=) c.478-12772C>T (n.478-12772C>T) c.513C>T (p.Tyr171=) c.132C>T (p.Tyr44=) c.124-12772C>T (n.124-12772C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2570664G>A | CA007311 | KCNQ1 | c.253G>A (p.Val85Met) c.478-12771G>A (n.478-12771G>A) c.514G>A (p.Val172Met) c.133G>A (p.Val45Met) c.124-12771G>A (n.124-12771G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.2570664G>C | CA379129862 | KCNQ1 | c.253G>C (p.Val85Leu) c.478-12771G>C (n.478-12771G>C) c.514G>C (p.Val172Leu) c.133G>C (p.Val45Leu) c.124-12771G>C (n.124-12771G>C) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2570664G= | CA1948239560 | KCNQ1 | c.253G= (p.Val85=) c.478-12771G= (n.478-12771G=) c.514G= (p.Val172=) c.133G= (p.Val45=) c.124-12771G= (n.124-12771G=) | |
| 11 | g.2570664G>T | CA379129863 | KCNQ1 | c.253G>T (p.Val85Leu) c.478-12771G>T (n.478-12771G>T) c.514G>T (p.Val172Leu) c.133G>T (p.Val45Leu) c.124-12771G>T (n.124-12771G>T) | |
| 11 | g.2570664_2570674dup | CA2580082603 | KCNQ1 | c.253_263dup (p.Gly92SerfsTer?) c.478-12771_478-12761dup (n.478-12771_478-12761dup) c.514_524dup (p.Gly179SerfsTer?) c.133_143dup (p.Gly52SerfsTer?) c.124-12771_124-12761dup (n.124-12771_124-12761dup) | ClinVar |
| 11 | g.2570664_2570675delinsGTGGTCCGCCTC | CA1948239562 | KCNQ1 | c.253_264delinsGTGGTCCGCCTC (p.Val85=) c.478-12771_478-12760delinsGTGGTCCGCCTC (n.478-12771_478-12760delinsGTGGTCCGCCTC) c.514_525delinsGTGGTCCGCCTC (p.Val172=) c.133_144delinsGTGGTCCGCCTC (p.Val45=) c.124-12771_124-12760delinsGTGGTCCGCCTC (n.124-12771_124-12760delinsGTGGTCCGCCTC) | |
| 11 | g.2570665T>A | CA038152 | KCNQ1 | c.254T>A (p.Val85Glu) c.478-12770T>A (n.478-12770T>A) c.515T>A (p.Val172Glu) c.134T>A (p.Val45Glu) c.124-12770T>A (n.124-12770T>A) | dbSNP ExAC gnomAD v2 |
| 11 | g.2570665T>C | CA379129865 | KCNQ1 | c.254T>C (p.Val85Ala) c.478-12770T>C (n.478-12770T>C) c.515T>C (p.Val172Ala) c.134T>C (p.Val45Ala) c.124-12770T>C (n.124-12770T>C) | |
| 11 | g.2570665T>G | CA379129864 | KCNQ1 | c.254T>G (p.Val85Gly) c.478-12770T>G (n.478-12770T>G) c.515T>G (p.Val172Gly) c.134T>G (p.Val45Gly) c.124-12770T>G (n.124-12770T>G) | |
| 11 | g.2570665T= | CA1948239580 | KCNQ1 | c.254T= (p.Val85=) c.478-12770T= (n.478-12770T=) c.515T= (p.Val172=) c.134T= (p.Val45=) c.124-12770T= (n.124-12770T=) | |
| 11 | g.2570674_2570684dup | CA10586242 | KCNQ1 | c.263_273dup (p.Gly92SerfsTer?) c.478-12761_478-12751dup (n.478-12761_478-12751dup) c.524_534dup (p.Gly179SerfsTer?) c.143_153dup (p.Gly52SerfsTer?) c.124-12761_124-12751dup (n.124-12761_124-12751dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2570674_2570684del | CA5822077 | KCNQ1 | c.263_273del (p.Leu88ArgfsTer?) c.478-12761_478-12751del (n.478-12761_478-12751del) c.524_534del (p.Leu175ArgfsTer?) c.143_153del (p.Leu48ArgfsTer?) c.124-12761_124-12751del (n.124-12761_124-12751del) | ClinVar dbSNP ExAC gnomAD v4 |
| 11 | g.2570666G>A | CA472037795 | KCNQ1 | c.255G>A (p.Val85=) c.478-12769G>A (n.478-12769G>A) c.516G>A (p.Val172=) c.135G>A (p.Val45=) c.124-12769G>A (n.124-12769G>A) | |
| 11 | g.2570666G>C | CA472037796 | KCNQ1 | c.255G>C (p.Val85=) c.478-12769G>C (n.478-12769G>C) c.516G>C (p.Val172=) c.135G>C (p.Val45=) c.124-12769G>C (n.124-12769G>C) | |
| 11 | g.2570666G= | CA1948239587 | KCNQ1 | c.255G= (p.Val85=) c.478-12769G= (n.478-12769G=) c.516G= (p.Val172=) c.135G= (p.Val45=) c.124-12769G= (n.124-12769G=) | |
| 11 | g.2570666G>T | CA038169 | KCNQ1 | c.255G>T (p.Val85=) c.478-12769G>T (n.478-12769G>T) c.516G>T (p.Val172=) c.135G>T (p.Val45=) c.124-12769G>T (n.124-12769G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2570667G>A | CA379129866 | KCNQ1 | c.256G>A (p.Val86Ile) c.478-12768G>A (n.478-12768G>A) c.517G>A (p.Val173Ile) c.136G>A (p.Val46Ile) c.124-12768G>A (n.124-12768G>A) | |
| 11 | g.2570667G>C | CA379129867 | KCNQ1 | c.256G>C (p.Val86Leu) c.478-12768G>C (n.478-12768G>C) c.517G>C (p.Val173Leu) c.136G>C (p.Val46Leu) c.124-12768G>C (n.124-12768G>C) |