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 |
|---|---|---|---|---|---|
| 20 | g.63439676_63439677delinsCT | CA2374791970 | KCNQ2 | c.848_849delinsAG (p.Lys283=) n.586_587delinsAG c.329_330delinsAG (p.Lys110=) c.506_507delinsAG (p.Lys169=) n.974_975delinsAG c.213_214delinsAG c.351_352delinsAG (p.Gln117=) n.673_674delinsAG c.722_723delinsAG (p.Lys241=) c.779_780delinsAG (p.Lys260=) | |
| 20 | g.63439677T>A | CA409652671 | KCNQ2 | c.848A>T (p.Lys283Met) n.586A>T c.329A>T (p.Lys110Met) c.506A>T (p.Lys169Met) n.974A>T c.213A>T c.351A>T (p.Gln117His) n.673A>T c.722A>T (p.Lys241Met) c.779A>T (p.Lys260Met) | |
| 20 | g.63439677T>C | CA315406 | KCNQ2 | c.848A>G (p.Lys283Arg) n.586A>G c.329A>G (p.Lys110Arg) c.506A>G (p.Lys169Arg) n.974A>G c.213A>G c.351A>G (p.Gln117=) n.673A>G c.722A>G (p.Lys241Arg) c.779A>G (p.Lys260Arg) | ClinVar dbSNP |
| 20 | g.63439677T>G | CA409652672 | KCNQ2 | c.848A>C (p.Lys283Thr) n.586A>C c.329A>C (p.Lys110Thr) c.506A>C (p.Lys169Thr) n.974A>C c.213A>C c.351A>C (p.Gln117His) n.673A>C c.722A>C (p.Lys241Thr) c.779A>C (p.Lys260Thr) | |
| 20 | g.63439677T= | CA2374791971 | KCNQ2 | c.848A= (p.Lys283=) n.586A= c.329A= (p.Lys110=) c.506A= (p.Lys169=) n.974A= c.213A= c.351A= (p.Gln117=) n.673A= c.722A= (p.Lys241=) c.779A= (p.Lys260=) | |
| 20 | g.63439678del | CA658799388 | KCNQ2 | c.848del (p.Lys283SerfsTer?) n.586del c.329del (p.Lys110SerfsTer?) c.506del (p.Lys169SerfsTer?) n.974del c.213del c.351del (p.Val118TyrfsTer?) n.673del c.722del (p.Lys241SerfsTer?) c.779del (p.Lys260SerfsTer?) | ClinVar dbSNP |
| 20 | g.63439677_63439678insAC | CA342536 | KCNQ2 | c.847_848insGT (p.Lys283SerfsTer?) n.585_586insGT c.328_329insGT (p.Lys110SerfsTer?) c.505_506insGT (p.Lys169SerfsTer?) n.973_974insGT c.212_213insGT c.350_351insGT (p.Val118Ter) n.672_673insGT c.721_722insGT (p.Lys241SerfsTer?) c.778_779insGT (p.Lys260SerfsTer?) | ClinVar dbSNP |
| 20 | g.63439678T>A | CA409652674 | KCNQ2 | c.847A>T (p.Lys283Ter) n.585A>T c.328A>T (p.Lys110Ter) c.505A>T (p.Lys169Ter) n.973A>T c.212A>T c.350A>T (p.Gln117Leu) n.672A>T c.721A>T (p.Lys241Ter) c.778A>T (p.Lys260Ter) | |
| 20 | g.63439678T>C | CA409652675 | KCNQ2 | c.847A>G (p.Lys283Glu) n.585A>G c.328A>G (p.Lys110Glu) c.505A>G (p.Lys169Glu) n.973A>G c.212A>G c.350A>G (p.Gln117Arg) n.672A>G c.721A>G (p.Lys241Glu) c.778A>G (p.Lys260Glu) | ClinVar dbSNP |
| 20 | g.63439678T>G | CA409652676 | KCNQ2 | c.847A>C (p.Lys283Gln) n.585A>C c.328A>C (p.Lys110Gln) c.505A>C (p.Lys169Gln) n.973A>C c.212A>C c.350A>C (p.Gln117Pro) n.672A>C c.721A>C (p.Lys241Gln) c.778A>C (p.Lys260Gln) | |
| 20 | g.63439678T= | CA2374791972 | KCNQ2 | c.847A= (p.Lys283=) n.585A= c.328A= (p.Lys110=) c.505A= (p.Lys169=) n.973A= c.212A= c.350A= (p.Gln117=) n.672A= c.721A= (p.Lys241=) c.778A= (p.Lys260=) | |
| 20 | g.63439679G>A | CA409652677 | KCNQ2 | c.846C>T (p.Asp282=) n.584C>T c.327C>T (p.Asp109=) c.504C>T (p.Asp168=) n.972C>T c.211C>T c.349C>T (p.Gln117Ter) n.671C>T c.720C>T (p.Asp240=) c.777C>T (p.Asp259=) | gnomAD v4 |
| 20 | g.63439679G>C | CA409652678 | KCNQ2 | c.846C>G (p.Asp282Glu) n.584C>G c.327C>G (p.Asp109Glu) c.504C>G (p.Asp168Glu) n.972C>G c.211C>G c.349C>G (p.Gln117Glu) n.671C>G c.720C>G (p.Asp240Glu) c.777C>G (p.Asp259Glu) | |
| 20 | g.63439679G>T | CA409652679 | KCNQ2 | c.846C>A (p.Asp282Glu) n.584C>A c.327C>A (p.Asp109Glu) c.504C>A (p.Asp168Glu) n.972C>A c.211C>A c.349C>A (p.Gln117Lys) n.671C>A c.720C>A (p.Asp240Glu) c.777C>A (p.Asp259Glu) | ClinVar |
| 20 | g.63439679_63439680delinsGT | CA2374791973 | KCNQ2 | c.845_846delinsAC (p.Asp282=) n.583_584delinsAC c.326_327delinsAC (p.Asp109=) c.503_504delinsAC (p.Asp168=) n.971_972delinsAC c.210_211delinsAC c.348_349delinsAC (p.Gly116=) n.670_671delinsAC c.719_720delinsAC (p.Asp240=) c.776_777delinsAC (p.Asp259=) | |
| 20 | g.63439680del | CA891843763 | KCNQ2 | c.845del (p.Asp282AlafsTer?) n.583del c.326del (p.Asp109AlafsTer?) c.503del (p.Asp168AlafsTer?) n.971del c.210del c.348del (p.Gln117LysfsTer?) n.670del c.719del (p.Asp240AlafsTer?) c.776del (p.Asp259AlafsTer?) | ClinVar dbSNP |
| 20 | g.63439680T>A | CA409652680 | KCNQ2 | c.845A>T (p.Asp282Val) n.583A>T c.326A>T (p.Asp109Val) c.503A>T (p.Asp168Val) n.971A>T c.210A>T c.348A>T (p.Gly116=) n.670A>T c.719A>T (p.Asp240Val) c.776A>T (p.Asp259Val) | ClinVar dbSNP |
| 20 | g.63439680T>C | CA409652682 | KCNQ2 | c.845A>G (p.Asp282Gly) n.583A>G c.326A>G (p.Asp109Gly) c.503A>G (p.Asp168Gly) n.971A>G c.210A>G c.348A>G (p.Gly116=) n.670A>G c.719A>G (p.Asp240Gly) c.776A>G (p.Asp259Gly) | |
| 20 | g.63439680T>G | CA409652683 | KCNQ2 | c.845A>C (p.Asp282Ala) n.583A>C c.326A>C (p.Asp109Ala) c.503A>C (p.Asp168Ala) n.971A>C c.210A>C c.348A>C (p.Gly116=) n.670A>C c.719A>C (p.Asp240Ala) c.776A>C (p.Asp259Ala) | |
| 20 | g.63439680T= | CA2374791974 | KCNQ2 | c.845A= (p.Asp282=) n.583A= c.326A= (p.Asp109=) c.503A= (p.Asp168=) n.971A= c.210A= c.348A= (p.Gly116=) n.670A= c.719A= (p.Asp240=) c.776A= (p.Asp259=) | |
| 20 | g.63439681C>A | CA409652686 | KCNQ2 | c.844G>T (p.Asp282Tyr) n.582G>T c.325G>T (p.Asp109Tyr) c.502G>T (p.Asp168Tyr) n.970G>T c.209G>T c.347G>T (p.Gly116Val) n.669G>T c.718G>T (p.Asp240Tyr) c.775G>T (p.Asp259Tyr) | |
| 20 | g.63439681C= | CA2374791975 | KCNQ2 | c.844G= (p.Asp282=) n.582G= c.325G= (p.Asp109=) c.502G= (p.Asp168=) n.970G= c.209G= c.347G= (p.Gly116=) n.669G= c.718G= (p.Asp240=) c.775G= (p.Asp259=) | |
| 20 | g.63439681C>G | CA409652684 | KCNQ2 | c.844G>C (p.Asp282His) n.582G>C c.325G>C (p.Asp109His) c.502G>C (p.Asp168His) n.970G>C c.209G>C c.347G>C (p.Gly116Ala) n.669G>C c.718G>C (p.Asp240His) c.775G>C (p.Asp259His) | ClinVar dbSNP |
| 20 | g.63439681C>T | CA315404 | KCNQ2 | c.844G>A (p.Asp282Asn) n.582G>A c.325G>A (p.Asp109Asn) c.502G>A (p.Asp168Asn) n.970G>A c.209G>A c.347G>A (p.Gly116Glu) n.669G>A c.718G>A (p.Asp240Asn) c.775G>A (p.Asp259Asn) | ClinVar dbSNP |
| 20 | g.63439682C>A | CA409652687 | KCNQ2 | c.843G>T (p.Gly281=) n.581G>T c.324G>T (p.Gly108=) c.501G>T (p.Gly167=) n.969G>T c.208G>T c.346G>T (p.Gly116Ter) n.668G>T c.717G>T (p.Gly239=) c.774G>T (p.Gly258=) | |
| 20 | g.63439682C>G | CA409652689 | KCNQ2 | c.843G>C (p.Gly281=) n.581G>C c.324G>C (p.Gly108=) c.501G>C (p.Gly167=) n.969G>C c.208G>C c.346G>C (p.Gly116Arg) n.668G>C c.717G>C (p.Gly239=) c.774G>C (p.Gly258=) | |
| 20 | g.63439682C>T | CA409652691 | KCNQ2 | c.843G>A (p.Gly281=) n.581G>A c.324G>A (p.Gly108=) c.501G>A (p.Gly167=) n.969G>A c.208G>A c.346G>A (p.Gly116Arg) n.668G>A c.717G>A (p.Gly239=) c.774G>A (p.Gly258=) | gnomAD v4 |
| 20 | g.63439683C>A | CA409652692 | KCNQ2 | c.842G>T (p.Gly281Val) n.580G>T c.323G>T (p.Gly108Val) c.500G>T (p.Gly167Val) n.968G>T c.207G>T c.345G>T (p.Arg115=) n.667G>T c.716G>T (p.Gly239Val) c.773G>T (p.Gly258Val) | |
| 20 | g.63439683C= | CA2374791976 | KCNQ2 | c.842G= (p.Gly281=) n.580G= c.323G= (p.Gly108=) c.500G= (p.Gly167=) n.968G= c.207G= c.345G= (p.Arg115=) n.667G= c.716G= (p.Gly239=) c.773G= (p.Gly258=) | |
| 20 | g.63439683C>G | CA409652694 | KCNQ2 | c.842G>C (p.Gly281Ala) n.580G>C c.323G>C (p.Gly108Ala) c.500G>C (p.Gly167Ala) n.968G>C c.207G>C c.345G>C (p.Arg115=) n.667G>C c.716G>C (p.Gly239Ala) c.773G>C (p.Gly258Ala) | |
| 20 | g.63439683C>T | CA16620971 | KCNQ2 | c.842G>A (p.Gly281Glu) n.580G>A c.323G>A (p.Gly108Glu) c.500G>A (p.Gly167Glu) n.968G>A c.207G>A c.345G>A (p.Arg115=) n.667G>A c.716G>A (p.Gly239Glu) c.773G>A (p.Gly258Glu) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |
| 20 | g.63439684C>A | CA209998 | KCNQ2 | c.841G>T (p.Gly281Trp) n.579G>T c.322G>T (p.Gly108Trp) c.499G>T (p.Gly167Trp) n.967G>T c.206G>T c.344G>T (p.Arg115Leu) n.666G>T c.715G>T (p.Gly239Trp) c.772G>T (p.Gly258Trp) | ClinVar dbSNP |
| 20 | g.63439684C= | CA2374791977 | KCNQ2 | c.841G= (p.Gly281=) n.579G= c.322G= (p.Gly108=) c.499G= (p.Gly167=) n.967G= c.206G= c.344G= (p.Arg115=) n.666G= c.715G= (p.Gly239=) c.772G= (p.Gly258=) | |
| 20 | g.63439684C>G | CA409652696 | KCNQ2 | c.841G>C (p.Gly281Arg) n.579G>C c.322G>C (p.Gly108Arg) c.499G>C (p.Gly167Arg) n.967G>C c.206G>C c.344G>C (p.Arg115Pro) n.666G>C c.715G>C (p.Gly239Arg) c.772G>C (p.Gly258Arg) | ClinVar dbSNP |
| 20 | g.63439684C>T | CA303047 | KCNQ2 | c.841G>A (p.Gly281Arg) n.579G>A c.322G>A (p.Gly108Arg) c.499G>A (p.Gly167Arg) n.967G>A c.206G>A c.344G>A (p.Arg115Gln) n.666G>A c.715G>A (p.Gly239Arg) c.772G>A (p.Gly258Arg) | ClinVar dbSNP |
| 20 | g.63439685G>A | CA9958710 | KCNQ2 | c.840C>T (p.Tyr280=) n.578C>T c.321C>T (p.Tyr107=) c.498C>T (p.Tyr166=) n.966C>T c.205C>T c.343C>T (p.Arg115Trp) n.665C>T c.714C>T (p.Tyr238=) c.771C>T (p.Tyr257=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 20 | g.63439685G>C | CA409652699 | KCNQ2 | c.840C>G (p.Tyr280Ter) n.578C>G c.321C>G (p.Tyr107Ter) c.498C>G (p.Tyr166Ter) n.966C>G c.205C>G c.343C>G (p.Arg115Gly) n.665C>G c.714C>G (p.Tyr238Ter) c.771C>G (p.Tyr257Ter) | |
| 20 | g.63439685G= | CA2374791978 | KCNQ2 | c.840C= (p.Tyr280=) n.578C= c.321C= (p.Tyr107=) c.498C= (p.Tyr166=) n.966C= c.205C= c.343C= (p.Arg115=) n.665C= c.714C= (p.Tyr238=) c.771C= (p.Tyr257=) | |
| 20 | g.63439685G>T | CA409652700 | KCNQ2 | c.840C>A (p.Tyr280Ter) n.578C>A c.321C>A (p.Tyr107Ter) c.498C>A (p.Tyr166Ter) n.966C>A c.205C>A c.343C>A (p.Arg115=) n.665C>A c.714C>A (p.Tyr238Ter) c.771C>A (p.Tyr257Ter) | |
| 20 | g.63439686T>A | CA409652701 | KCNQ2 | c.839A>T (p.Tyr280Phe) n.577A>T c.320A>T (p.Tyr107Phe) c.497A>T (p.Tyr166Phe) n.965A>T c.204A>T c.342A>T (p.Leu114=) n.664A>T c.713A>T (p.Tyr238Phe) c.770A>T (p.Tyr257Phe) | |
| 20 | g.63439686T>C | CA409652704 | KCNQ2 | c.839A>G (p.Tyr280Cys) n.577A>G c.320A>G (p.Tyr107Cys) c.497A>G (p.Tyr166Cys) n.965A>G c.204A>G c.342A>G (p.Leu114=) n.664A>G c.713A>G (p.Tyr238Cys) c.770A>G (p.Tyr257Cys) | ClinVar dbSNP |
| 20 | g.63439686T>G | CA409652703 | KCNQ2 | c.839A>C (p.Tyr280Ser) n.577A>C c.320A>C (p.Tyr107Ser) c.497A>C (p.Tyr166Ser) n.965A>C c.204A>C c.342A>C (p.Leu114=) n.664A>C c.713A>C (p.Tyr238Ser) c.770A>C (p.Tyr257Ser) | |
| 20 | g.63439686T= | CA2374791979 | KCNQ2 | c.839A= (p.Tyr280=) n.577A= c.320A= (p.Tyr107=) c.497A= (p.Tyr166=) n.965A= c.204A= c.342A= (p.Leu114=) n.664A= c.713A= (p.Tyr238=) c.770A= (p.Tyr257=) | |
| 20 | g.63439687A= | CA2374791980 | KCNQ2 | c.838T= (p.Tyr280=) n.576T= c.319T= (p.Tyr107=) c.496T= (p.Tyr166=) n.964T= c.203T= c.341T= (p.Leu114=) n.663T= c.712T= (p.Tyr238=) c.769T= (p.Tyr257=) | |
| 20 | g.63439687A>C | CA409652706 | KCNQ2 | c.838T>G (p.Tyr280Asp) n.576T>G c.319T>G (p.Tyr107Asp) c.496T>G (p.Tyr166Asp) n.964T>G c.203T>G c.341T>G (p.Leu114Arg) n.663T>G c.712T>G (p.Tyr238Asp) c.769T>G (p.Tyr257Asp) | |
| 20 | g.63439687A>G | CA409652707 | KCNQ2 | c.838T>C (p.Tyr280His) n.576T>C c.319T>C (p.Tyr107His) c.496T>C (p.Tyr166His) n.964T>C c.203T>C c.341T>C (p.Leu114Pro) n.663T>C c.712T>C (p.Tyr238His) c.769T>C (p.Tyr257His) | ClinVar dbSNP |
| 20 | g.63439687A>T | CA409652708 | KCNQ2 | c.838T>A (p.Tyr280Asn) n.576T>A c.319T>A (p.Tyr107Asn) c.496T>A (p.Tyr166Asn) n.964T>A c.203T>A c.341T>A (p.Leu114Gln) n.663T>A c.712T>A (p.Tyr238Asn) c.769T>A (p.Tyr257Asn) | |
| 20 | g.63439688G>A | CA511208859 | KCNQ2 | c.837C>T (p.Gly279=) n.575C>T c.318C>T (p.Gly106=) c.495C>T (p.Gly165=) n.963C>T c.202C>T c.340C>T (p.Leu114=) n.662C>T c.711C>T (p.Gly237=) c.768C>T (p.Gly256=) | |
| 20 | g.63439688G>C | CA409652709 | KCNQ2 | c.837C>G (p.Gly279=) n.575C>G c.318C>G (p.Gly106=) c.495C>G (p.Gly165=) n.963C>G c.202C>G c.340C>G (p.Leu114Val) n.662C>G c.711C>G (p.Gly237=) c.768C>G (p.Gly256=) | ClinVar |
| 20 | g.63439688G>T | CA409652710 | KCNQ2 | c.837C>A (p.Gly279=) n.575C>A c.318C>A (p.Gly106=) c.495C>A (p.Gly165=) n.963C>A c.202C>A c.340C>A (p.Leu114Ile) n.662C>A c.711C>A (p.Gly237=) c.768C>A (p.Gly256=) |