| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2583457A= | CA1948224723 | KCNQ1 | c.683A= (p.Tyr228=) c.500A= (p.Tyr167=) c.944A= (p.Tyr315=) c.563A= (p.Tyr188=) c.146A= (p.Tyr49=) | |
| 11 | g.2583457A>C | CA008803 | KCNQ1 | c.683A>C (p.Tyr228Ser) c.500A>C (p.Tyr167Ser) c.944A>C (p.Tyr315Ser) c.563A>C (p.Tyr188Ser) c.146A>C (p.Tyr49Ser) | ClinVar dbSNP |
| 11 | g.2583457A>G | CA008807 | KCNQ1 | c.683A>G (p.Tyr228Cys) c.500A>G (p.Tyr167Cys) c.944A>G (p.Tyr315Cys) c.563A>G (p.Tyr188Cys) c.146A>G (p.Tyr49Cys) | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.2583457A>T | CA008817 | KCNQ1 | c.683A>T (p.Tyr228Phe) c.500A>T (p.Tyr167Phe) c.944A>T (p.Tyr315Phe) c.563A>T (p.Tyr188Phe) c.146A>T (p.Tyr49Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.2583458T>A | CA379132981 | KCNQ1 | c.684T>A (p.Tyr228Ter) c.501T>A (p.Tyr167Ter) c.945T>A (p.Tyr315Ter) c.564T>A (p.Tyr188Ter) c.147T>A (p.Tyr49Ter) | |
| 11 | g.2583458T>C | CA041785 | KCNQ1 | c.684T>C (p.Tyr228=) c.501T>C (p.Tyr167=) c.945T>C (p.Tyr315=) c.564T>C (p.Tyr188=) c.147T>C (p.Tyr49=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2583458T>G | CA379132982 | KCNQ1 | c.684T>G (p.Tyr228Ter) c.501T>G (p.Tyr167Ter) c.945T>G (p.Tyr315Ter) c.564T>G (p.Tyr188Ter) c.147T>G (p.Tyr49Ter) | |
| 11 | g.2583458T= | CA1948224744 | KCNQ1 | c.684T= (p.Tyr228=) c.501T= (p.Tyr167=) c.945T= (p.Tyr315=) c.564T= (p.Tyr188=) c.147T= (p.Tyr49=) | |
| 11 | g.2583459G>A | CA008823 | KCNQ1 | c.685G>A (p.Gly229Arg) c.502G>A (p.Gly168Arg) c.946G>A (p.Gly316Arg) c.565G>A (p.Gly189Arg) c.148G>A (p.Gly50Arg) | ClinVar dbSNP |
| 11 | g.2583459G>C | CA008832 | KCNQ1 | c.685G>C (p.Gly229Arg) c.502G>C (p.Gly168Arg) c.946G>C (p.Gly316Arg) c.565G>C (p.Gly189Arg) c.148G>C (p.Gly50Arg) | ClinVar dbSNP |
| 11 | g.2583459G= | CA1948224751 | KCNQ1 | c.685G= (p.Gly229=) c.502G= (p.Gly168=) c.946G= (p.Gly316=) c.565G= (p.Gly189=) c.148G= (p.Gly50=) | |
| 11 | g.2583459G>T | CA008840 | KCNQ1 | c.685G>T (p.Gly229Trp) c.502G>T (p.Gly168Trp) c.946G>T (p.Gly316Trp) c.565G>T (p.Gly189Trp) c.148G>T (p.Gly50Trp) | ClinVar dbSNP |
| 11 | g.2583462del | CA2950809866 | KCNQ1 | c.688del (p.Asp230ThrfsTer?) c.505del (p.Asp169ThrfsTer?) c.949del (p.Asp317ThrfsTer?) c.568del (p.Asp190ThrfsTer?) c.151del (p.Asp51ThrfsTer?) | |
| 11 | g.2583460G>A | CA008848 | KCNQ1 | c.686G>A (p.Gly229Glu) c.503G>A (p.Gly168Glu) c.947G>A (p.Gly316Glu) c.566G>A (p.Gly189Glu) c.149G>A (p.Gly50Glu) | ClinVar dbSNP |
| 11 | g.2583460G>C | CA379132983 | KCNQ1 | c.686G>C (p.Gly229Ala) c.503G>C (p.Gly168Ala) c.947G>C (p.Gly316Ala) c.566G>C (p.Gly189Ala) c.149G>C (p.Gly50Ala) | ClinVar |
| 11 | g.2583460G= | CA1948224760 | KCNQ1 | c.686G= (p.Gly229=) c.503G= (p.Gly168=) c.947G= (p.Gly316=) c.566G= (p.Gly189=) c.149G= (p.Gly50=) | |
| 11 | g.2583460G>T | CA008856 | KCNQ1 | c.686G>T (p.Gly229Val) c.503G>T (p.Gly168Val) c.947G>T (p.Gly316Val) c.566G>T (p.Gly189Val) c.149G>T (p.Gly50Val) | ClinVar dbSNP |
| 11 | g.2583461G>A | CA472038410 | KCNQ1 | c.687G>A (p.Gly229=) c.504G>A (p.Gly168=) c.948G>A (p.Gly316=) c.567G>A (p.Gly189=) c.150G>A (p.Gly50=) | ClinVar dbSNP |
| 11 | g.2583461G>C | CA008864 | KCNQ1 | c.687G>C (p.Gly229=) c.504G>C (p.Gly168=) c.948G>C (p.Gly316=) c.567G>C (p.Gly189=) c.150G>C (p.Gly50=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2583461G= | CA1948224775 | KCNQ1 | c.687G= (p.Gly229=) c.504G= (p.Gly168=) c.948G= (p.Gly316=) c.567G= (p.Gly189=) c.150G= (p.Gly50=) | |
| 11 | g.2583461G>T | CA472038411 | KCNQ1 | c.687G>T (p.Gly229=) c.504G>T (p.Gly168=) c.948G>T (p.Gly316=) c.567G>T (p.Gly189=) c.150G>T (p.Gly50=) | |
| 11 | g.2583462G>A | CA008869 | KCNQ1 | c.688G>A (p.Asp230Asn) c.505G>A (p.Asp169Asn) c.949G>A (p.Asp317Asn) c.568G>A (p.Asp190Asn) c.151G>A (p.Asp51Asn) | ClinVar dbSNP |
| 11 | g.2583462G>C | CA379132984 | KCNQ1 | c.688G>C (p.Asp230His) c.505G>C (p.Asp169His) c.949G>C (p.Asp317His) c.568G>C (p.Asp190His) c.151G>C (p.Asp51His) | |
| 11 | g.2583462G= | CA1948224789 | KCNQ1 | c.688G= (p.Asp230=) c.505G= (p.Asp169=) c.949G= (p.Asp317=) c.568G= (p.Asp190=) c.151G= (p.Asp51=) | |
| 11 | g.2583462G>T | CA008878 | KCNQ1 | c.688G>T (p.Asp230Tyr) c.505G>T (p.Asp169Tyr) c.949G>T (p.Asp317Tyr) c.568G>T (p.Asp190Tyr) c.151G>T (p.Asp51Tyr) | ClinVar dbSNP |
| 11 | g.2583463A= | CA1948224796 | KCNQ1 | c.689A= (p.Asp230=) c.506A= (p.Asp169=) c.950A= (p.Asp317=) c.569A= (p.Asp190=) c.152A= (p.Asp51=) | |
| 11 | g.2583463A>C | CA379132985 | KCNQ1 | c.689A>C (p.Asp230Ala) c.506A>C (p.Asp169Ala) c.950A>C (p.Asp317Ala) c.569A>C (p.Asp190Ala) c.152A>C (p.Asp51Ala) | ClinVar dbSNP |
| 11 | g.2583463A>G | CA008884 | KCNQ1 | c.689A>G (p.Asp230Gly) c.506A>G (p.Asp169Gly) c.950A>G (p.Asp317Gly) c.569A>G (p.Asp190Gly) c.152A>G (p.Asp51Gly) | ClinVar dbSNP |
| 11 | g.2583463A>T | CA379132986 | KCNQ1 | c.689A>T (p.Asp230Val) c.506A>T (p.Asp169Val) c.950A>T (p.Asp317Val) c.569A>T (p.Asp190Val) c.152A>T (p.Asp51Val) | |
| 11 | g.2583464C>A | CA379132987 | KCNQ1 | c.690C>A (p.Asp230Glu) c.507C>A (p.Asp169Glu) c.951C>A (p.Asp317Glu) c.570C>A (p.Asp190Glu) c.153C>A (p.Asp51Glu) | |
| 11 | g.2583464C>G | CA379132988 | KCNQ1 | c.690C>G (p.Asp230Glu) c.507C>G (p.Asp169Glu) c.951C>G (p.Asp317Glu) c.570C>G (p.Asp190Glu) c.153C>G (p.Asp51Glu) | gnomAD v4 |
| 11 | g.2583464C>T | CA472038412 | KCNQ1 | c.690C>T (p.Asp230=) c.507C>T (p.Asp169=) c.951C>T (p.Asp317=) c.570C>T (p.Asp190=) c.153C>T (p.Asp51=) | |
| 11 | g.2583465A>C | CA379132989 | KCNQ1 | c.691A>C (p.Lys231Gln) c.508A>C (p.Lys170Gln) c.952A>C (p.Lys318Gln) c.571A>C (p.Lys191Gln) c.154A>C (p.Lys52Gln) | |
| 11 | g.2583465A>G | CA379132990 | KCNQ1 | c.691A>G (p.Lys231Glu) c.508A>G (p.Lys170Glu) c.952A>G (p.Lys318Glu) c.571A>G (p.Lys191Glu) c.154A>G (p.Lys52Glu) | |
| 11 | g.2583465A>T | CA379132991 | KCNQ1 | c.691A>T (p.Lys231Ter) c.508A>T (p.Lys170Ter) c.952A>T (p.Lys318Ter) c.571A>T (p.Lys191Ter) c.154A>T (p.Lys52Ter) | |
| 11 | g.2583466dup | CA3002923054 | KCNQ1 | c.692dup (p.Val232GlyfsTer?) c.509dup (p.Val171GlyfsTer?) c.953dup (p.Val319GlyfsTer?) c.572dup (p.Val192GlyfsTer?) c.155dup (p.Val53GlyfsTer?) | |
| 11 | g.2583466A= | CA1948224809 | KCNQ1 | c.692A= (p.Lys231=) c.509A= (p.Lys170=) c.953A= (p.Lys318=) c.572A= (p.Lys191=) c.155A= (p.Lys52=) | |
| 11 | g.2583466A>C | CA008890 | KCNQ1 | c.692A>C (p.Lys231Thr) c.509A>C (p.Lys170Thr) c.953A>C (p.Lys318Thr) c.572A>C (p.Lys191Thr) c.155A>C (p.Lys52Thr) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583466A>G | CA379132992 | KCNQ1 | c.692A>G (p.Lys231Arg) c.509A>G (p.Lys170Arg) c.953A>G (p.Lys318Arg) c.572A>G (p.Lys191Arg) c.155A>G (p.Lys52Arg) | |
| 11 | g.2583466A>T | CA379132993 | KCNQ1 | c.692A>T (p.Lys231Met) c.509A>T (p.Lys170Met) c.953A>T (p.Lys318Met) c.572A>T (p.Lys191Met) c.155A>T (p.Lys52Met) | |
| 11 | g.2583467G>A | CA472038413 | KCNQ1 | c.693G>A (p.Lys231=) c.510G>A (p.Lys170=) c.954G>A (p.Lys318=) c.573G>A (p.Lys191=) c.156G>A (p.Lys52=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2583467G>C | CA008895 | KCNQ1 | c.693G>C (p.Lys231Asn) c.510G>C (p.Lys170Asn) c.954G>C (p.Lys318Asn) c.573G>C (p.Lys191Asn) c.156G>C (p.Lys52Asn) | ClinVar dbSNP |
| 11 | g.2583467G= | CA1948224817 | KCNQ1 | c.693G= (p.Lys231=) c.510G= (p.Lys170=) c.954G= (p.Lys318=) c.573G= (p.Lys191=) c.156G= (p.Lys52=) | |
| 11 | g.2583467G>T | CA379132994 | KCNQ1 | c.693G>T (p.Lys231Asn) c.510G>T (p.Lys170Asn) c.954G>T (p.Lys318Asn) c.573G>T (p.Lys191Asn) c.156G>T (p.Lys52Asn) | |
| 11 | g.2583468G>A | CA379132995 | KCNQ1 | c.694G>A (p.Val232Met) c.511G>A (p.Val171Met) c.955G>A (p.Val319Met) c.574G>A (p.Val192Met) c.157G>A (p.Val53Met) | ClinVar dbSNP |
| 11 | g.2583468G>C | CA379132997 | KCNQ1 | c.694G>C (p.Val232Leu) c.511G>C (p.Val171Leu) c.955G>C (p.Val319Leu) c.574G>C (p.Val192Leu) c.157G>C (p.Val53Leu) | |
| 11 | g.2583468G= | CA1948224824 | KCNQ1 | c.694G= (p.Val232=) c.511G= (p.Val171=) c.955G= (p.Val319=) c.574G= (p.Val192=) c.157G= (p.Val53=) | |
| 11 | g.2583468G>T | CA379132996 | KCNQ1 | c.694G>T (p.Val232Leu) c.511G>T (p.Val171Leu) c.955G>T (p.Val319Leu) c.574G>T (p.Val192Leu) c.157G>T (p.Val53Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2583469T>A | CA379132998 | KCNQ1 | c.695T>A (p.Val232Glu) c.512T>A (p.Val171Glu) c.956T>A (p.Val319Glu) c.575T>A (p.Val192Glu) c.158T>A (p.Val53Glu) | |
| 11 | g.2583469T>C | CA379132999 | KCNQ1 | c.695T>C (p.Val232Ala) c.512T>C (p.Val171Ala) c.956T>C (p.Val319Ala) c.575T>C (p.Val192Ala) c.158T>C (p.Val53Ala) |