| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2583448_2583450del | CA891843060 | KCNQ1 | c.674_676del (p.Thr225del) c.491_493del (p.Thr164del) c.935_937del (p.Thr312del) c.554_556del (p.Thr185del) c.137_139del (p.Thr46del) | ClinVar dbSNP |
| 11 | g.2583446C>A | CA472038401 | KCNQ1 | c.672C>A (p.Thr224=) c.489C>A (p.Thr163=) c.933C>A (p.Thr311=) c.552C>A (p.Thr184=) c.135C>A (p.Thr45=) | COSMIC COSMIC |
| 11 | g.2583446C>G | CA472038402 | KCNQ1 | c.672C>G (p.Thr224=) c.489C>G (p.Thr163=) c.933C>G (p.Thr311=) c.552C>G (p.Thr184=) c.135C>G (p.Thr45=) | |
| 11 | g.2583446C>T | CA472038403 | KCNQ1 | c.672C>T (p.Thr224=) c.489C>T (p.Thr163=) c.933C>T (p.Thr311=) c.552C>T (p.Thr184=) c.135C>T (p.Thr45=) | |
| 11 | g.2583447del | CA645569428 | KCNQ1 | c.673del (p.Thr225ProfsTer?) c.490del (p.Thr164ProfsTer?) c.934del (p.Thr312ProfsTer?) c.553del (p.Thr185ProfsTer?) c.136del (p.Thr46ProfsTer?) | COSMIC COSMIC |
| 11 | g.2583447A= | CA1948224649 | KCNQ1 | c.673A= (p.Thr225=) c.490A= (p.Thr164=) c.934A= (p.Thr312=) c.553A= (p.Thr185=) c.136A= (p.Thr46=) | |
| 11 | g.2583447A>C | CA379132968 | KCNQ1 | c.673A>C (p.Thr225Pro) c.490A>C (p.Thr164Pro) c.934A>C (p.Thr312Pro) c.553A>C (p.Thr185Pro) c.136A>C (p.Thr46Pro) | |
| 11 | g.2583447A>G | CA379132967 | KCNQ1 | c.673A>G (p.Thr225Ala) c.490A>G (p.Thr164Ala) c.934A>G (p.Thr312Ala) c.553A>G (p.Thr185Ala) c.136A>G (p.Thr46Ala) | |
| 11 | g.2583447A>T | CA379132966 | KCNQ1 | c.673A>T (p.Thr225Ser) c.490A>T (p.Thr164Ser) c.934A>T (p.Thr312Ser) c.553A>T (p.Thr185Ser) c.136A>T (p.Thr46Ser) | ClinVar dbSNP |
| 11 | g.2583447_2583454dup | CA2573146065 | KCNQ1 | c.673_680dup (p.Tyr228ProfsTer?) c.490_497dup (p.Tyr167ProfsTer?) c.934_941dup (p.Tyr315ProfsTer?) c.553_560dup (p.Tyr188ProfsTer?) c.136_143dup (p.Tyr49ProfsTer?) | ClinVar dbSNP |
| 11 | g.2583448C>A | CA379132969 | KCNQ1 | c.674C>A (p.Thr225Asn) c.491C>A (p.Thr164Asn) c.935C>A (p.Thr312Asn) c.554C>A (p.Thr185Asn) c.137C>A (p.Thr46Asn) | |
| 11 | g.2583448C= | CA1948224658 | KCNQ1 | c.674C= (p.Thr225=) c.491C= (p.Thr164=) c.935C= (p.Thr312=) c.554C= (p.Thr185=) c.137C= (p.Thr46=) | |
| 11 | g.2583448C>G | CA379132970 | KCNQ1 | c.674C>G (p.Thr225Ser) c.491C>G (p.Thr164Ser) c.935C>G (p.Thr312Ser) c.554C>G (p.Thr185Ser) c.137C>G (p.Thr46Ser) | |
| 11 | g.2583448C>T | CA008759 | KCNQ1 | c.674C>T (p.Thr225Ile) c.491C>T (p.Thr164Ile) c.935C>T (p.Thr312Ile) c.554C>T (p.Thr185Ile) c.137C>T (p.Thr46Ile) | ClinVar dbSNP |
| 11 | g.2583449C>A | CA472038404 | KCNQ1 | c.675C>A (p.Thr225=) c.492C>A (p.Thr164=) c.936C>A (p.Thr312=) c.555C>A (p.Thr185=) c.138C>A (p.Thr46=) | |
| 11 | g.2583449C= | CA1948224665 | KCNQ1 | c.675C= (p.Thr225=) c.492C= (p.Thr164=) c.936C= (p.Thr312=) c.555C= (p.Thr185=) c.138C= (p.Thr46=) | |
| 11 | g.2583449C>G | CA472038405 | KCNQ1 | c.675C>G (p.Thr225=) c.492C>G (p.Thr164=) c.936C>G (p.Thr312=) c.555C>G (p.Thr185=) c.138C>G (p.Thr46=) | |
| 11 | g.2583449C>T | CA041750 | KCNQ1 | c.675C>T (p.Thr225=) c.492C>T (p.Thr164=) c.936C>T (p.Thr312=) c.555C>T (p.Thr185=) c.138C>T (p.Thr46=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2583450A= | CA1948224672 | KCNQ1 | c.676A= (p.Ile226=) c.493A= (p.Ile165=) c.937A= (p.Ile313=) c.556A= (p.Ile186=) c.139A= (p.Ile47=) | |
| 11 | g.2583450A>C | CA379132973 | KCNQ1 | c.676A>C (p.Ile226Leu) c.493A>C (p.Ile165Leu) c.937A>C (p.Ile313Leu) c.556A>C (p.Ile186Leu) c.139A>C (p.Ile47Leu) | |
| 11 | g.2583450A>G | CA379132971 | KCNQ1 | c.676A>G (p.Ile226Val) c.493A>G (p.Ile165Val) c.937A>G (p.Ile313Val) c.556A>G (p.Ile186Val) c.139A>G (p.Ile47Val) | |
| 11 | g.2583450A>T | CA379132972 | KCNQ1 | c.676A>T (p.Ile226Phe) c.493A>T (p.Ile165Phe) c.937A>T (p.Ile313Phe) c.556A>T (p.Ile186Phe) c.139A>T (p.Ile47Phe) | ClinVar dbSNP |
| 11 | g.2583451T>A | CA379132974 | KCNQ1 | c.677T>A (p.Ile226Asn) c.494T>A (p.Ile165Asn) c.938T>A (p.Ile313Asn) c.557T>A (p.Ile186Asn) c.140T>A (p.Ile47Asn) | |
| 11 | g.2583451T>C | CA379132975 | KCNQ1 | c.677T>C (p.Ile226Thr) c.494T>C (p.Ile165Thr) c.938T>C (p.Ile313Thr) c.557T>C (p.Ile186Thr) c.140T>C (p.Ile47Thr) | |
| 11 | g.2583451T>G | CA379132976 | KCNQ1 | c.677T>G (p.Ile226Ser) c.494T>G (p.Ile165Ser) c.938T>G (p.Ile313Ser) c.557T>G (p.Ile186Ser) c.140T>G (p.Ile47Ser) | |
| 11 | g.2583451_2583452delinsAA | CA2695213186 | KCNQ1 | c.677_678delinsAA (p.Ile226Lys) c.494_495delinsAA (p.Ile165Lys) c.938_939delinsAA (p.Ile313Lys) c.557_558delinsAA (p.Ile186Lys) c.140_141delinsAA (p.Ile47Lys) | |
| 11 | g.2583452C>A | CA472038406 | KCNQ1 | c.678C>A (p.Ile226=) c.495C>A (p.Ile165=) c.939C>A (p.Ile313=) c.558C>A (p.Ile186=) c.141C>A (p.Ile47=) | |
| 11 | g.2583452C= | CA1948224679 | KCNQ1 | c.678C= (p.Ile226=) c.495C= (p.Ile165=) c.939C= (p.Ile313=) c.558C= (p.Ile186=) c.141C= (p.Ile47=) | |
| 11 | g.2583452C>G | CA008767 | KCNQ1 | c.678C>G (p.Ile226Met) c.495C>G (p.Ile165Met) c.939C>G (p.Ile313Met) c.558C>G (p.Ile186Met) c.141C>G (p.Ile47Met) | ClinVar dbSNP |
| 11 | g.2583452C>T | CA041764 | KCNQ1 | c.678C>T (p.Ile226=) c.495C>T (p.Ile165=) c.939C>T (p.Ile313=) c.558C>T (p.Ile186=) c.141C>T (p.Ile47=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2583453G>A | CA008773 | KCNQ1 | c.679G>A (p.Gly227Ser) c.496G>A (p.Gly166Ser) c.940G>A (p.Gly314Ser) c.559G>A (p.Gly187Ser) c.142G>A (p.Gly48Ser) | ClinVar dbSNP |
| 11 | g.2583453G>C | CA008777 | KCNQ1 | c.679G>C (p.Gly227Arg) c.496G>C (p.Gly166Arg) c.940G>C (p.Gly314Arg) c.559G>C (p.Gly187Arg) c.142G>C (p.Gly48Arg) | ClinVar dbSNP |
| 11 | g.2583453G= | CA1948224692 | KCNQ1 | c.679G= (p.Gly227=) c.496G= (p.Gly166=) c.940G= (p.Gly314=) c.559G= (p.Gly187=) c.142G= (p.Gly48=) | |
| 11 | g.2583453G>T | CA008786 | KCNQ1 | c.679G>T (p.Gly227Cys) c.496G>T (p.Gly166Cys) c.940G>T (p.Gly314Cys) c.559G>T (p.Gly187Cys) c.142G>T (p.Gly48Cys) | ClinVar dbSNP |
| 11 | g.2583454G>A | CA008793 | KCNQ1 | c.680G>A (p.Gly227Asp) c.497G>A (p.Gly166Asp) c.941G>A (p.Gly314Asp) c.560G>A (p.Gly187Asp) c.143G>A (p.Gly48Asp) | ClinVar dbSNP |
| 11 | g.2583454G>C | CA008798 | KCNQ1 | c.680G>C (p.Gly227Ala) c.497G>C (p.Gly166Ala) c.941G>C (p.Gly314Ala) c.560G>C (p.Gly187Ala) c.143G>C (p.Gly48Ala) | ClinVar dbSNP |
| 11 | g.2583454G= | CA1948224700 | KCNQ1 | c.680G= (p.Gly227=) c.497G= (p.Gly166=) c.941G= (p.Gly314=) c.560G= (p.Gly187=) c.143G= (p.Gly48=) | |
| 11 | g.2583454G>T | CA379132977 | KCNQ1 | c.680G>T (p.Gly227Val) c.497G>T (p.Gly166Val) c.941G>T (p.Gly314Val) c.560G>T (p.Gly187Val) c.143G>T (p.Gly48Val) | |
| 11 | g.2583455C>A | CA472038407 | KCNQ1 | c.681C>A (p.Gly227=) c.498C>A (p.Gly166=) c.942C>A (p.Gly314=) c.561C>A (p.Gly187=) c.144C>A (p.Gly48=) | |
| 11 | g.2583455C>G | CA472038408 | KCNQ1 | c.681C>G (p.Gly227=) c.498C>G (p.Gly166=) c.942C>G (p.Gly314=) c.561C>G (p.Gly187=) c.144C>G (p.Gly48=) | |
| 11 | g.2583455C>T | CA472038409 | KCNQ1 | c.681C>T (p.Gly227=) c.498C>T (p.Gly166=) c.942C>T (p.Gly314=) c.561C>T (p.Gly187=) c.144C>T (p.Gly48=) | |
| 11 | g.2583456T>A | CA379132980 | KCNQ1 | c.682T>A (p.Tyr228Asn) c.499T>A (p.Tyr167Asn) c.943T>A (p.Tyr315Asn) c.562T>A (p.Tyr188Asn) c.145T>A (p.Tyr49Asn) | ClinVar dbSNP |
| 11 | g.2583456T>C | CA379132979 | KCNQ1 | c.682T>C (p.Tyr228His) c.499T>C (p.Tyr167His) c.943T>C (p.Tyr315His) c.562T>C (p.Tyr188His) c.145T>C (p.Tyr49His) | ClinVar dbSNP |
| 11 | g.2583456T>G | CA379132978 | KCNQ1 | c.682T>G (p.Tyr228Asp) c.499T>G (p.Tyr167Asp) c.943T>G (p.Tyr315Asp) c.562T>G (p.Tyr188Asp) c.145T>G (p.Tyr49Asp) | |
| 11 | g.2583456T= | CA1948224708 | KCNQ1 | c.682T= (p.Tyr228=) c.499T= (p.Tyr167=) c.943T= (p.Tyr315=) c.562T= (p.Tyr188=) c.145T= (p.Tyr49=) | |
| 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) |