UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2583439_2583440del | CA2574728171 | KCNQ1 | c.665_666del (p.Thr222SerfsTer?) c.482_483del (p.Thr161SerfsTer?) c.926_927del (p.Thr309SerfsTer?) c.545_546del (p.Thr182SerfsTer?) c.128_129del (p.Thr43SerfsTer?) | |
| 11 | g.2583440A>C | CA472038396 | KCNQ1 | c.666A>C (p.Thr222=) c.483A>C (p.Thr161=) c.927A>C (p.Thr309=) c.546A>C (p.Thr182=) c.129A>C (p.Thr43=) | |
| 11 | g.2583440A>G | CA472038397 | KCNQ1 | c.666A>G (p.Thr222=) c.483A>G (p.Thr161=) c.927A>G (p.Thr309=) c.546A>G (p.Thr182=) c.129A>G (p.Thr43=) | gnomAD v4 |
| 11 | g.2583440A>T | CA472038398 | KCNQ1 | c.666A>T (p.Thr222=) c.483A>T (p.Thr161=) c.927A>T (p.Thr309=) c.546A>T (p.Thr182=) c.129A>T (p.Thr43=) | COSMIC |
| 11 | g.2583441G>A | CA008728 | KCNQ1 | c.667G>A (p.Val223Ile) c.484G>A (p.Val162Ile) c.928G>A (p.Val310Ile) c.547G>A (p.Val183Ile) c.130G>A (p.Val44Ile) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583441G>C | CA379132958 | KCNQ1 | c.667G>C (p.Val223Leu) c.484G>C (p.Val162Leu) c.928G>C (p.Val310Leu) c.547G>C (p.Val183Leu) c.130G>C (p.Val44Leu) | |
| 11 | g.2583441G= | CA1948224599 | KCNQ1 | c.667G= (p.Val223=) c.484G= (p.Val162=) c.928G= (p.Val310=) c.547G= (p.Val183=) c.130G= (p.Val44=) | |
| 11 | g.2583441G>T | CA379132959 | KCNQ1 | c.667G>T (p.Val223Phe) c.484G>T (p.Val162Phe) c.928G>T (p.Val310Phe) c.547G>T (p.Val183Phe) c.130G>T (p.Val44Phe) | |
| 11 | g.2583442T>A | CA008737 | KCNQ1 | c.668T>A (p.Val223Asp) c.485T>A (p.Val162Asp) c.929T>A (p.Val310Asp) c.548T>A (p.Val183Asp) c.131T>A (p.Val44Asp) | ClinVar dbSNP |
| 11 | g.2583442T>C | CA379132960 | KCNQ1 | c.668T>C (p.Val223Ala) c.485T>C (p.Val162Ala) c.929T>C (p.Val310Ala) c.548T>C (p.Val183Ala) c.131T>C (p.Val44Ala) | |
| 11 | g.2583442T>G | CA379132961 | KCNQ1 | c.668T>G (p.Val223Gly) c.485T>G (p.Val162Gly) c.929T>G (p.Val310Gly) c.548T>G (p.Val183Gly) c.131T>G (p.Val44Gly) | |
| 11 | g.2583442T= | CA1948224606 | KCNQ1 | c.668T= (p.Val223=) c.485T= (p.Val162=) c.929T= (p.Val310=) c.548T= (p.Val183=) c.131T= (p.Val44=) | |
| 11 | g.2583442_2583445delinsTCAC | CA1948224610 | KCNQ1 | c.668_671delinsTCAC (p.Val223=) c.485_488delinsTCAC (p.Val162=) c.929_932delinsTCAC (p.Val310=) c.548_551delinsTCAC (p.Val183=) c.131_134delinsTCAC (p.Val44=) | |
| 11 | g.2583443C>A | CA041690 | KCNQ1 | c.669C>A (p.Val223=) c.486C>A (p.Val162=) c.930C>A (p.Val310=) c.549C>A (p.Val183=) c.132C>A (p.Val44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2583443C= | CA1948224621 | KCNQ1 | c.669C= (p.Val223=) c.486C= (p.Val162=) c.930C= (p.Val310=) c.549C= (p.Val183=) c.132C= (p.Val44=) | |
| 11 | g.2583443C>G | CA472038399 | KCNQ1 | c.669C>G (p.Val223=) c.486C>G (p.Val162=) c.930C>G (p.Val310=) c.549C>G (p.Val183=) c.132C>G (p.Val44=) | |
| 11 | g.2583443C>T | CA472038400 | KCNQ1 | c.669C>T (p.Val223=) c.486C>T (p.Val162=) c.930C>T (p.Val310=) c.549C>T (p.Val183=) c.132C>T (p.Val44=) | |
| 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.2583444del | CA2580082599 | KCNQ1 | c.670del (p.Thr224ProfsTer?) c.487del (p.Thr163ProfsTer?) c.931del (p.Thr311ProfsTer?) c.550del (p.Thr184ProfsTer?) c.133del (p.Thr45ProfsTer?) | ClinVar |
| 11 | g.2583444A= | CA1948224627 | KCNQ1 | c.670A= (p.Thr224=) c.487A= (p.Thr163=) c.931A= (p.Thr311=) c.550A= (p.Thr184=) c.133A= (p.Thr45=) | |
| 11 | g.2583444A>C | CA379132962 | KCNQ1 | c.670A>C (p.Thr224Pro) c.487A>C (p.Thr163Pro) c.931A>C (p.Thr311Pro) c.550A>C (p.Thr184Pro) c.133A>C (p.Thr45Pro) | |
| 11 | g.2583444A>G | CA008744 | KCNQ1 | c.670A>G (p.Thr224Ala) c.487A>G (p.Thr163Ala) c.931A>G (p.Thr311Ala) c.550A>G (p.Thr184Ala) c.133A>G (p.Thr45Ala) | ClinVar dbSNP |
| 11 | g.2583444A>T | CA379132963 | KCNQ1 | c.670A>T (p.Thr224Ser) c.487A>T (p.Thr163Ser) c.931A>T (p.Thr311Ser) c.550A>T (p.Thr184Ser) c.133A>T (p.Thr45Ser) | |
| 11 | g.2583445C>A | CA379132964 | KCNQ1 | c.671C>A (p.Thr224Asn) c.488C>A (p.Thr163Asn) c.932C>A (p.Thr311Asn) c.551C>A (p.Thr184Asn) c.134C>A (p.Thr45Asn) | gnomAD v4 |
| 11 | g.2583445C= | CA1948224634 | KCNQ1 | c.671C= (p.Thr224=) c.488C= (p.Thr163=) c.932C= (p.Thr311=) c.551C= (p.Thr184=) c.134C= (p.Thr45=) | |
| 11 | g.2583445C>G | CA379132965 | KCNQ1 | c.671C>G (p.Thr224Ser) c.488C>G (p.Thr163Ser) c.932C>G (p.Thr311Ser) c.551C>G (p.Thr184Ser) c.134C>G (p.Thr45Ser) | |
| 11 | g.2583445C>T | CA008752 | KCNQ1 | c.671C>T (p.Thr224Ile) c.488C>T (p.Thr163Ile) c.932C>T (p.Thr311Ile) c.551C>T (p.Thr184Ile) c.134C>T (p.Thr45Ile) | ClinVar dbSNP gnomAD v2 |
| 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) | |
| 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.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.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) | |
| 11 | g.2583469T>G | CA379133000 | KCNQ1 | c.695T>G (p.Val232Gly) c.512T>G (p.Val171Gly) c.956T>G (p.Val319Gly) c.575T>G (p.Val192Gly) c.158T>G (p.Val53Gly) | dbSNP COSMIC COSMIC |
| 11 | g.2583469T= | CA1948224833 | KCNQ1 | c.695T= (p.Val232=) c.512T= (p.Val171=) c.956T= (p.Val319=) c.575T= (p.Val192=) c.158T= (p.Val53=) | |
| 11 | g.2583470G>A | CA216327228 | KCNQ1 | c.696G>A (p.Val232=) c.513G>A (p.Val171=) c.957G>A (p.Val319=) c.576G>A (p.Val192=) c.159G>A (p.Val53=) | dbSNP |
| 11 | g.2583470G>C | CA472038414 | KCNQ1 | c.696G>C (p.Val232=) c.513G>C (p.Val171=) c.957G>C (p.Val319=) c.576G>C (p.Val192=) c.159G>C (p.Val53=) | |
| 11 | g.2583470G= | CA1948224839 | KCNQ1 | c.696G= (p.Val232=) c.513G= (p.Val171=) c.957G= (p.Val319=) c.576G= (p.Val192=) c.159G= (p.Val53=) | |
| 11 | g.2583470G>T | CA16606302 | KCNQ1 | c.696G>T (p.Val232=) c.513G>T (p.Val171=) c.957G>T (p.Val319=) c.576G>T (p.Val192=) c.159G>T (p.Val53=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583470_2583471delinsTT | CA2580082604 | KCNQ1 | c.696_697delinsTT (p.Pro233Ser) c.513_514delinsTT (p.Pro172Ser) c.957_958delinsTT (p.Pro320Ser) c.576_577delinsTT (p.Pro193Ser) c.159_160delinsTT (p.Pro54Ser) | ClinVar |
| 11 | g.2583471C>A | CA379133001 | KCNQ1 | c.697C>A (p.Pro233Thr) c.514C>A (p.Pro172Thr) c.958C>A (p.Pro320Thr) c.577C>A (p.Pro193Thr) c.160C>A (p.Pro54Thr) | |
| 11 | g.2583471C= | CA1948224843 | KCNQ1 | c.697C= (p.Pro233=) c.514C= (p.Pro172=) c.958C= (p.Pro320=) c.577C= (p.Pro193=) c.160C= (p.Pro54=) | |
| 11 | g.2583471C>G | CA008901 | KCNQ1 | c.697C>G (p.Pro233Ala) c.514C>G (p.Pro172Ala) c.958C>G (p.Pro320Ala) c.577C>G (p.Pro193Ala) c.160C>G (p.Pro54Ala) | ClinVar dbSNP |
| 11 | g.2583471C>T | CA008910 | KCNQ1 | c.697C>T (p.Pro233Ser) c.514C>T (p.Pro172Ser) c.958C>T (p.Pro320Ser) c.577C>T (p.Pro193Ser) c.160C>T (p.Pro54Ser) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583472C>A | CA008917 | KCNQ1 | c.698C>A (p.Pro233His) c.515C>A (p.Pro172His) c.959C>A (p.Pro320His) c.578C>A (p.Pro193His) c.161C>A (p.Pro54His) | ClinVar dbSNP |
| 11 | g.2583472C= | CA1948224851 | KCNQ1 | c.698C= (p.Pro233=) c.515C= (p.Pro172=) c.959C= (p.Pro320=) c.578C= (p.Pro193=) c.161C= (p.Pro54=) | |
| 11 | g.2583472C>G | CA379133002 | KCNQ1 | c.698C>G (p.Pro233Arg) c.515C>G (p.Pro172Arg) c.959C>G (p.Pro320Arg) c.578C>G (p.Pro193Arg) c.161C>G (p.Pro54Arg) | ClinVar |
| 11 | g.2583472C>T | CA379133003 | KCNQ1 | c.698C>T (p.Pro233Leu) c.515C>T (p.Pro172Leu) c.959C>T (p.Pro320Leu) c.578C>T (p.Pro193Leu) c.161C>T (p.Pro54Leu) | ClinVar dbSNP |
| 11 | g.2583472_2583473delinsTT | CA645569440 | KCNQ1 | c.698_699delinsTT (p.Pro233Leu) c.515_516delinsTT (p.Pro172Leu) c.959_960delinsTT (p.Pro320Leu) c.578_579delinsTT (p.Pro193Leu) c.161_162delinsTT (p.Pro54Leu) | COSMIC |
| 11 | g.2583473C>A | CA472038415 | KCNQ1 | c.699C>A (p.Pro233=) c.516C>A (p.Pro172=) c.960C>A (p.Pro320=) c.579C>A (p.Pro193=) c.162C>A (p.Pro54=) | |
| 11 | g.2583473C= | CA1948224859 | KCNQ1 | c.699C= (p.Pro233=) c.516C= (p.Pro172=) c.960C= (p.Pro320=) c.579C= (p.Pro193=) c.162C= (p.Pro54=) | |
| 11 | g.2583473C>G | CA472038416 | KCNQ1 | c.699C>G (p.Pro233=) c.516C>G (p.Pro172=) c.960C>G (p.Pro320=) c.579C>G (p.Pro193=) c.162C>G (p.Pro54=) | dbSNP gnomAD v2 |
| 11 | g.2583473C>T | CA041816 | KCNQ1 | c.699C>T (p.Pro233=) c.516C>T (p.Pro172=) c.960C>T (p.Pro320=) c.579C>T (p.Pro193=) c.162C>T (p.Pro54=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2583474C>A | CA379133005 | KCNQ1 | c.700C>A (p.Gln234Lys) c.517C>A (p.Gln173Lys) c.961C>A (p.Gln321Lys) c.580C>A (p.Gln194Lys) c.163C>A (p.Gln55Lys) | |
| 11 | g.2583474C= | CA1948224864 | KCNQ1 | c.700C= (p.Gln234=) c.517C= (p.Gln173=) c.961C= (p.Gln321=) c.580C= (p.Gln194=) c.163C= (p.Gln55=) | |
| 11 | g.2583474C>G | CA379133004 | KCNQ1 | c.700C>G (p.Gln234Glu) c.517C>G (p.Gln173Glu) c.961C>G (p.Gln321Glu) c.580C>G (p.Gln194Glu) c.163C>G (p.Gln55Glu) | |
| 11 | g.2583474C>T | CA008923 | KCNQ1 | c.700C>T (p.Gln234Ter) c.517C>T (p.Gln173Ter) c.961C>T (p.Gln321Ter) c.580C>T (p.Gln194Ter) c.163C>T (p.Gln55Ter) | ClinVar dbSNP |
| 11 | g.2583475A= | CA1948224869 | KCNQ1 | c.701A= (p.Gln234=) c.518A= (p.Gln173=) c.962A= (p.Gln321=) c.581A= (p.Gln194=) c.164A= (p.Gln55=) | |
| 11 | g.2583475A>C | CA008930 | KCNQ1 | c.701A>C (p.Gln234Pro) c.518A>C (p.Gln173Pro) c.962A>C (p.Gln321Pro) c.581A>C (p.Gln194Pro) c.164A>C (p.Gln55Pro) | ClinVar dbSNP |
| 11 | g.2583475A>G | CA379133007 | KCNQ1 | c.701A>G (p.Gln234Arg) c.518A>G (p.Gln173Arg) c.962A>G (p.Gln321Arg) c.581A>G (p.Gln194Arg) c.164A>G (p.Gln55Arg) | |
| 11 | g.2583475A>T | CA379133006 | KCNQ1 | c.701A>T (p.Gln234Leu) c.518A>T (p.Gln173Leu) c.962A>T (p.Gln321Leu) c.581A>T (p.Gln194Leu) c.164A>T (p.Gln55Leu) | dbSNP |
| 11 | g.2583476G>A | CA472038417 | KCNQ1 | c.702G>A (p.Gln234=) c.519G>A (p.Gln173=) c.963G>A (p.Gln321=) c.582G>A (p.Gln194=) c.165G>A (p.Gln55=) | |
| 11 | g.2583476G>C | CA379133008 | KCNQ1 | c.702G>C (p.Gln234His) c.519G>C (p.Gln173His) c.963G>C (p.Gln321His) c.582G>C (p.Gln194His) c.165G>C (p.Gln55His) | |
| 11 | g.2583476G>T | CA379133009 | KCNQ1 | c.702G>T (p.Gln234His) c.519G>T (p.Gln173His) c.963G>T (p.Gln321His) c.582G>T (p.Gln194His) c.165G>T (p.Gln55His) | |
| 11 | g.2583477A= | CA1948224876 | KCNQ1 | c.703A= (p.Thr235=) c.520A= (p.Thr174=) c.964A= (p.Thr322=) c.583A= (p.Thr195=) c.166A= (p.Thr56=) | |
| 11 | g.2583477A>C | CA379133010 | KCNQ1 | c.703A>C (p.Thr235Pro) c.520A>C (p.Thr174Pro) c.964A>C (p.Thr322Pro) c.583A>C (p.Thr195Pro) c.166A>C (p.Thr56Pro) | ClinVar dbSNP |
| 11 | g.2583477A>G | CA008936 | KCNQ1 | c.703A>G (p.Thr235Ala) c.520A>G (p.Thr174Ala) c.964A>G (p.Thr322Ala) c.583A>G (p.Thr195Ala) c.166A>G (p.Thr56Ala) | ClinVar dbSNP |
| 11 | g.2583477A>T | CA379133011 | KCNQ1 | c.703A>T (p.Thr235Ser) c.520A>T (p.Thr174Ser) c.964A>T (p.Thr322Ser) c.583A>T (p.Thr195Ser) c.166A>T (p.Thr56Ser) | |
| 11 | g.2583478C>A | CA008945 | KCNQ1 | c.704C>A (p.Thr235Lys) c.521C>A (p.Thr174Lys) c.965C>A (p.Thr322Lys) c.584C>A (p.Thr195Lys) c.167C>A (p.Thr56Lys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583478C= | CA1948224889 | KCNQ1 | c.704C= (p.Thr235=) c.521C= (p.Thr174=) c.965C= (p.Thr322=) c.584C= (p.Thr195=) c.167C= (p.Thr56=) | |
| 11 | g.2583478C>G | CA008952 | KCNQ1 | c.704C>G (p.Thr235Arg) c.521C>G (p.Thr174Arg) c.965C>G (p.Thr322Arg) c.584C>G (p.Thr195Arg) c.167C>G (p.Thr56Arg) | ClinVar dbSNP |
| 11 | g.2583478C>T | CA008957 | KCNQ1 | c.704C>T (p.Thr235Met) c.521C>T (p.Thr174Met) c.965C>T (p.Thr322Met) c.584C>T (p.Thr195Met) c.167C>T (p.Thr56Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2583479G>A | CA041835 | KCNQ1 | c.705G>A (p.Thr235=) c.522G>A (p.Thr174=) c.966G>A (p.Thr322=) c.585G>A (p.Thr195=) c.168G>A (p.Thr56=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2583479G>C | CA472038418 | KCNQ1 | c.705G>C (p.Thr235=) c.522G>C (p.Thr174=) c.966G>C (p.Thr322=) c.585G>C (p.Thr195=) c.168G>C (p.Thr56=) | |
| 11 | g.2583479G= | CA1948224904 | KCNQ1 | c.705G= (p.Thr235=) c.522G= (p.Thr174=) c.966G= (p.Thr322=) c.585G= (p.Thr195=) c.168G= (p.Thr56=) | |
| 11 | g.2583479G>T | CA472038419 | KCNQ1 | c.705G>T (p.Thr235=) c.522G>T (p.Thr174=) c.966G>T (p.Thr322=) c.585G>T (p.Thr195=) c.168G>T (p.Thr56=) | COSMIC COSMIC |
| 11 | g.2583480T>A | CA379133012 | KCNQ1 | c.706T>A (p.Trp236Arg) c.523T>A (p.Trp175Arg) c.967T>A (p.Trp323Arg) c.586T>A (p.Trp196Arg) c.169T>A (p.Trp57Arg) | |
| 11 | g.2583480T>C | CA379133013 | KCNQ1 | c.706T>C (p.Trp236Arg) c.523T>C (p.Trp175Arg) c.967T>C (p.Trp323Arg) c.586T>C (p.Trp196Arg) c.169T>C (p.Trp57Arg) | |
| 11 | g.2583480T>G | CA379133014 | KCNQ1 | c.706T>G (p.Trp236Gly) c.523T>G (p.Trp175Gly) c.967T>G (p.Trp323Gly) c.586T>G (p.Trp196Gly) c.169T>G (p.Trp57Gly) | |
| 11 | g.2583481G>A | CA379133015 | KCNQ1 | c.707G>A (p.Trp236Ter) c.524G>A (p.Trp175Ter) c.968G>A (p.Trp323Ter) c.587G>A (p.Trp196Ter) c.170G>A (p.Trp57Ter) | ClinVar COSMIC COSMIC |
| 11 | g.2583481G>C | CA379133017 | KCNQ1 | c.707G>C (p.Trp236Ser) c.524G>C (p.Trp175Ser) c.968G>C (p.Trp323Ser) c.587G>C (p.Trp196Ser) c.170G>C (p.Trp57Ser) | |
| 11 | g.2583481G>T | CA379133016 | KCNQ1 | c.707G>T (p.Trp236Leu) c.524G>T (p.Trp175Leu) c.968G>T (p.Trp323Leu) c.587G>T (p.Trp196Leu) c.170G>T (p.Trp57Leu) | |
| 11 | g.2583482G>A | CA008966 | KCNQ1 | c.708G>A (p.Trp236Ter) c.525G>A (p.Trp175Ter) c.969G>A (p.Trp323Ter) c.588G>A (p.Trp196Ter) c.171G>A (p.Trp57Ter) | ClinVar dbSNP |
| 11 | g.2583482G>C | CA379133018 | KCNQ1 | c.708G>C (p.Trp236Cys) c.525G>C (p.Trp175Cys) c.969G>C (p.Trp323Cys) c.588G>C (p.Trp196Cys) c.171G>C (p.Trp57Cys) | |
| 11 | g.2583482G= | CA1948224913 | KCNQ1 | c.708G= (p.Trp236=) c.525G= (p.Trp175=) c.969G= (p.Trp323=) c.588G= (p.Trp196=) c.171G= (p.Trp57=) | |
| 11 | g.2583482G>T | CA379133019 | KCNQ1 | c.708G>T (p.Trp236Cys) c.525G>T (p.Trp175Cys) c.969G>T (p.Trp323Cys) c.588G>T (p.Trp196Cys) c.171G>T (p.Trp57Cys) | |
| 11 | g.2583483G>A | CA379133020 | KCNQ1 | c.709G>A (p.Val237Ile) c.526G>A (p.Val176Ile) c.970G>A (p.Val324Ile) c.589G>A (p.Val197Ile) c.172G>A (p.Val58Ile) | ClinVar dbSNP |
| 11 | g.2583483G>C | CA379133021 | KCNQ1 | c.709G>C (p.Val237Leu) c.526G>C (p.Val176Leu) c.970G>C (p.Val324Leu) c.589G>C (p.Val197Leu) c.172G>C (p.Val58Leu) | gnomAD v4 |
| 11 | g.2583483G= | CA1948224920 | KCNQ1 | c.709G= (p.Val237=) c.526G= (p.Val176=) c.970G= (p.Val324=) c.589G= (p.Val197=) c.172G= (p.Val58=) | |
| 11 | g.2583483G>T | CA379133022 | KCNQ1 | c.709G>T (p.Val237Phe) c.526G>T (p.Val176Phe) c.970G>T (p.Val324Phe) c.589G>T (p.Val197Phe) c.172G>T (p.Val58Phe) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583484T>A | CA379133023 | KCNQ1 | c.710T>A (p.Val237Asp) c.527T>A (p.Val176Asp) c.971T>A (p.Val324Asp) c.590T>A (p.Val197Asp) c.173T>A (p.Val58Asp) | |
| 11 | g.2583484T>C | CA379133024 | KCNQ1 | c.710T>C (p.Val237Ala) c.527T>C (p.Val176Ala) c.971T>C (p.Val324Ala) c.590T>C (p.Val197Ala) c.173T>C (p.Val58Ala) | |
| 11 | g.2583484T>G | CA379133025 | KCNQ1 | c.710T>G (p.Val237Gly) c.527T>G (p.Val176Gly) c.971T>G (p.Val324Gly) c.590T>G (p.Val197Gly) c.173T>G (p.Val58Gly) | |
| 11 | g.2583485C>A | CA472038420 | KCNQ1 | c.711C>A (p.Val237=) c.528C>A (p.Val176=) c.972C>A (p.Val324=) c.591C>A (p.Val197=) c.174C>A (p.Val58=) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2583485C= | CA1948224929 | KCNQ1 | c.711C= (p.Val237=) c.528C= (p.Val176=) c.972C= (p.Val324=) c.591C= (p.Val197=) c.174C= (p.Val58=) | |
| 11 | g.2583485C>G | CA472038421 | KCNQ1 | c.711C>G (p.Val237=) c.528C>G (p.Val176=) c.972C>G (p.Val324=) c.591C>G (p.Val197=) c.174C>G (p.Val58=) | ClinVar gnomAD v4 |
| 11 | g.2583485C>T | CA041844 | KCNQ1 | c.711C>T (p.Val237=) c.528C>T (p.Val176=) c.972C>T (p.Val324=) c.591C>T (p.Val197=) c.174C>T (p.Val58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2583486G>A | CA008972 | KCNQ1 | c.712G>A (p.Gly238Arg) c.529G>A (p.Gly177Arg) c.973G>A (p.Gly325Arg) c.592G>A (p.Gly198Arg) c.175G>A (p.Gly59Arg) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583486G>C | CA379133027 | KCNQ1 | c.712G>C (p.Gly238Arg) c.529G>C (p.Gly177Arg) c.973G>C (p.Gly325Arg) c.592G>C (p.Gly198Arg) c.175G>C (p.Gly59Arg) | ClinVar dbSNP |
| 11 | g.2583486G= | CA1948224938 | KCNQ1 | c.712G= (p.Gly238=) c.529G= (p.Gly177=) c.973G= (p.Gly325=) c.592G= (p.Gly198=) c.175G= (p.Gly59=) | |
| 11 | g.2583486G>T | CA379133026 | KCNQ1 | c.712G>T (p.Gly238Trp) c.529G>T (p.Gly177Trp) c.973G>T (p.Gly325Trp) c.592G>T (p.Gly198Trp) c.175G>T (p.Gly59Trp) | ClinVar dbSNP |
| 11 | g.2583487G>A | CA008978 | KCNQ1 | c.713G>A (p.Gly238Glu) c.530G>A (p.Gly177Glu) c.974G>A (p.Gly325Glu) c.593G>A (p.Gly198Glu) c.176G>A (p.Gly59Glu) | ClinVar dbSNP |
| 11 | g.2583487G>C | CA379133028 | KCNQ1 | c.713G>C (p.Gly238Ala) c.530G>C (p.Gly177Ala) c.974G>C (p.Gly325Ala) c.593G>C (p.Gly198Ala) c.176G>C (p.Gly59Ala) | |
| 11 | g.2583487G= | CA1948224946 | KCNQ1 | c.713G= (p.Gly238=) c.530G= (p.Gly177=) c.974G= (p.Gly325=) c.593G= (p.Gly198=) c.176G= (p.Gly59=) | |
| 11 | g.2583487G>T | CA379133029 | KCNQ1 | c.713G>T (p.Gly238Val) c.530G>T (p.Gly177Val) c.974G>T (p.Gly325Val) c.593G>T (p.Gly198Val) c.176G>T (p.Gly59Val) | |
| 11 | g.2583488G>A | CA472038422 | KCNQ1 | c.714G>A (p.Gly238=) c.531G>A (p.Gly177=) c.975G>A (p.Gly325=) c.594G>A (p.Gly198=) c.177G>A (p.Gly59=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583488G>C | CA472038423 | KCNQ1 | c.714G>C (p.Gly238=) c.531G>C (p.Gly177=) c.975G>C (p.Gly325=) c.594G>C (p.Gly198=) c.177G>C (p.Gly59=) | |
| 11 | g.2583488G>T | CA472038424 | KCNQ1 | c.714G>T (p.Gly238=) c.531G>T (p.Gly177=) c.975G>T (p.Gly325=) c.594G>T (p.Gly198=) c.177G>T (p.Gly59=) | |
| 11 | g.2583489A>C | CA379133030 | KCNQ1 | c.715A>C (p.Lys239Gln) c.532A>C (p.Lys178Gln) c.976A>C (p.Lys326Gln) c.595A>C (p.Lys199Gln) c.178A>C (p.Lys60Gln) | |
| 11 | g.2583489A>G | CA379133031 | KCNQ1 | c.715A>G (p.Lys239Glu) c.532A>G (p.Lys178Glu) c.976A>G (p.Lys326Glu) c.595A>G (p.Lys199Glu) c.178A>G (p.Lys60Glu) | |
| 11 | g.2583489A>T | CA379133032 | KCNQ1 | c.715A>T (p.Lys239Ter) c.532A>T (p.Lys178Ter) c.976A>T (p.Lys326Ter) c.595A>T (p.Lys199Ter) c.178A>T (p.Lys60Ter) | |
| 11 | g.2583490A>C | CA379133035 | KCNQ1 | c.716A>C (p.Lys239Thr) c.533A>C (p.Lys178Thr) c.977A>C (p.Lys326Thr) c.596A>C (p.Lys199Thr) c.179A>C (p.Lys60Thr) | |
| 11 | g.2583490A>G | CA379133033 | KCNQ1 | c.716A>G (p.Lys239Arg) c.533A>G (p.Lys178Arg) c.977A>G (p.Lys326Arg) c.596A>G (p.Lys199Arg) c.179A>G (p.Lys60Arg) | |
| 11 | g.2583490A>T | CA379133034 | KCNQ1 | c.716A>T (p.Lys239Met) c.533A>T (p.Lys178Met) c.977A>T (p.Lys326Met) c.596A>T (p.Lys199Met) c.179A>T (p.Lys60Met) | |
| 11 | g.2583491G>A | CA472038425 | KCNQ1 | c.717G>A (p.Lys239=) c.534G>A (p.Lys178=) c.978G>A (p.Lys326=) c.597G>A (p.Lys199=) c.180G>A (p.Lys60=) | |
| 11 | g.2583491G>C | CA379133036 | KCNQ1 | c.717G>C (p.Lys239Asn) c.534G>C (p.Lys178Asn) c.978G>C (p.Lys326Asn) c.597G>C (p.Lys199Asn) c.180G>C (p.Lys60Asn) | |
| 11 | g.2583491G>T | CA379133037 | KCNQ1 | c.717G>T (p.Lys239Asn) c.534G>T (p.Lys178Asn) c.978G>T (p.Lys326Asn) c.597G>T (p.Lys199Asn) c.180G>T (p.Lys60Asn) | |
| 11 | g.2583492A= | CA1948224955 | KCNQ1 | c.718A= (p.Thr240=) c.535A= (p.Thr179=) c.979A= (p.Thr327=) c.598A= (p.Thr200=) c.181A= (p.Thr61=) | |
| 11 | g.2583492A>C | CA379133038 | KCNQ1 | c.718A>C (p.Thr240Pro) c.535A>C (p.Thr179Pro) c.979A>C (p.Thr327Pro) c.598A>C (p.Thr200Pro) c.181A>C (p.Thr61Pro) | |
| 11 | g.2583492A>G | CA379133039 | KCNQ1 | c.718A>G (p.Thr240Ala) c.535A>G (p.Thr179Ala) c.979A>G (p.Thr327Ala) c.598A>G (p.Thr200Ala) c.181A>G (p.Thr61Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2583492A>T | CA379133040 | KCNQ1 | c.718A>T (p.Thr240Ser) c.535A>T (p.Thr179Ser) c.979A>T (p.Thr327Ser) c.598A>T (p.Thr200Ser) c.181A>T (p.Thr61Ser) | |
| 11 | g.2583493C>A | CA379133041 | KCNQ1 | c.719C>A (p.Thr240Asn) c.536C>A (p.Thr179Asn) c.980C>A (p.Thr327Asn) c.599C>A (p.Thr200Asn) c.182C>A (p.Thr61Asn) | |
| 11 | g.2583493C= | CA1948224964 | KCNQ1 | c.719C= (p.Thr240=) c.536C= (p.Thr179=) c.980C= (p.Thr327=) c.599C= (p.Thr200=) c.182C= (p.Thr61=) | |
| 11 | g.2583493C>G | CA041882 | KCNQ1 | c.719C>G (p.Thr240Ser) c.536C>G (p.Thr179Ser) c.980C>G (p.Thr327Ser) c.599C>G (p.Thr200Ser) c.182C>G (p.Thr61Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.2583493C>T | CA379133042 | KCNQ1 | c.719C>T (p.Thr240Ile) c.536C>T (p.Thr179Ile) c.980C>T (p.Thr327Ile) c.599C>T (p.Thr200Ile) c.182C>T (p.Thr61Ile) | |
| 11 | g.2583495_2583503del | CA2695213187 | KCNQ1 | c.721_729del (p.Ile241_Ser243del) c.538_546del (p.Ile180_Ser182del) c.982_990del (p.Ile328_Ser330del) c.601_609del (p.Ile201_Ser203del) c.184_192del (p.Ile62_Ser64del) | |
| 11 | g.2583494C>A | CA472038426 | KCNQ1 | c.720C>A (p.Thr240=) c.537C>A (p.Thr179=) c.981C>A (p.Thr327=) c.600C>A (p.Thr200=) c.183C>A (p.Thr61=) | |
| 11 | g.2583494C= | CA1948224968 | KCNQ1 | c.720C= (p.Thr240=) c.537C= (p.Thr179=) c.981C= (p.Thr327=) c.600C= (p.Thr200=) c.183C= (p.Thr61=) | |
| 11 | g.2583494C>G | CA472038427 | KCNQ1 | c.720C>G (p.Thr240=) c.537C>G (p.Thr179=) c.981C>G (p.Thr327=) c.600C>G (p.Thr200=) c.183C>G (p.Thr61=) | |
| 11 | g.2583494C>T | CA472038428 | KCNQ1 | c.720C>T (p.Thr240=) c.537C>T (p.Thr179=) c.981C>T (p.Thr327=) c.600C>T (p.Thr200=) c.183C>T (p.Thr61=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2583495A>C | CA379133043 | KCNQ1 | c.721A>C (p.Ile241Leu) c.538A>C (p.Ile180Leu) c.982A>C (p.Ile328Leu) c.601A>C (p.Ile201Leu) c.184A>C (p.Ile62Leu) | |
| 11 | g.2583495A>G | CA379133044 | KCNQ1 | c.721A>G (p.Ile241Val) c.538A>G (p.Ile180Val) c.982A>G (p.Ile328Val) c.601A>G (p.Ile201Val) c.184A>G (p.Ile62Val) | gnomAD v4 |
| 11 | g.2583495A>T | CA379133045 | KCNQ1 | c.721A>T (p.Ile241Phe) c.538A>T (p.Ile180Phe) c.982A>T (p.Ile328Phe) c.601A>T (p.Ile201Phe) c.184A>T (p.Ile62Phe) | |
| 11 | g.2583496T>A | CA379133046 | KCNQ1 | c.722T>A (p.Ile241Asn) c.539T>A (p.Ile180Asn) c.983T>A (p.Ile328Asn) c.602T>A (p.Ile201Asn) c.185T>A (p.Ile62Asn) | |
| 11 | g.2583496T>C | CA379133047 | KCNQ1 | c.722T>C (p.Ile241Thr) c.539T>C (p.Ile180Thr) c.983T>C (p.Ile328Thr) c.602T>C (p.Ile201Thr) c.185T>C (p.Ile62Thr) | |
| 11 | g.2583496T>G | CA379133048 | KCNQ1 | c.722T>G (p.Ile241Ser) c.539T>G (p.Ile180Ser) c.983T>G (p.Ile328Ser) c.602T>G (p.Ile201Ser) c.185T>G (p.Ile62Ser) | |
| 11 | g.2583497C>A | CA472038429 | KCNQ1 | c.723C>A (p.Ile241=) c.540C>A (p.Ile180=) c.984C>A (p.Ile328=) c.603C>A (p.Ile201=) c.186C>A (p.Ile62=) | |
| 11 | g.2583497C= | CA1948224977 | KCNQ1 | c.723C= (p.Ile241=) c.540C= (p.Ile180=) c.984C= (p.Ile328=) c.603C= (p.Ile201=) c.186C= (p.Ile62=) | |
| 11 | g.2583497C>G | CA379133049 | KCNQ1 | c.723C>G (p.Ile241Met) c.540C>G (p.Ile180Met) c.984C>G (p.Ile328Met) c.603C>G (p.Ile201Met) c.186C>G (p.Ile62Met) | |
| 11 | g.2583497C>T | CA041905 | KCNQ1 | c.723C>T (p.Ile241=) c.540C>T (p.Ile180=) c.984C>T (p.Ile328=) c.603C>T (p.Ile201=) c.186C>T (p.Ile62=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.2583498G>A | CA041925 | KCNQ1 | c.724G>A (p.Ala242Thr) c.541G>A (p.Ala181Thr) c.985G>A (p.Ala329Thr) c.604G>A (p.Ala202Thr) c.187G>A (p.Ala63Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 11 | g.2583498G>C | CA379133050 | KCNQ1 | c.724G>C (p.Ala242Pro) c.541G>C (p.Ala181Pro) c.985G>C (p.Ala329Pro) c.604G>C (p.Ala202Pro) c.187G>C (p.Ala63Pro) | |
| 11 | g.2583498G= | CA1948224993 | KCNQ1 | c.724G= (p.Ala242=) c.541G= (p.Ala181=) c.985G= (p.Ala329=) c.604G= (p.Ala202=) c.187G= (p.Ala63=) | |
| 11 | g.2583498G>T | CA379133051 | KCNQ1 | c.724G>T (p.Ala242Ser) c.541G>T (p.Ala181Ser) c.985G>T (p.Ala329Ser) c.604G>T (p.Ala202Ser) c.187G>T (p.Ala63Ser) | gnomAD v4 |
| 11 | g.2583499C>A | CA379133053 | KCNQ1 | c.725C>A (p.Ala242Asp) c.542C>A (p.Ala181Asp) c.986C>A (p.Ala329Asp) c.605C>A (p.Ala202Asp) c.188C>A (p.Ala63Asp) | |
| 11 | g.2583499C= | CA1948225001 | KCNQ1 | c.725C= (p.Ala242=) c.542C= (p.Ala181=) c.986C= (p.Ala329=) c.605C= (p.Ala202=) c.188C= (p.Ala63=) | |
| 11 | g.2583499C>G | CA379133052 | KCNQ1 | c.725C>G (p.Ala242Gly) c.542C>G (p.Ala181Gly) c.986C>G (p.Ala329Gly) c.605C>G (p.Ala202Gly) c.188C>G (p.Ala63Gly) | |
| 11 | g.2583499C>T | CA216327312 | KCNQ1 | c.725C>T (p.Ala242Val) c.542C>T (p.Ala181Val) c.986C>T (p.Ala329Val) c.605C>T (p.Ala202Val) c.188C>T (p.Ala63Val) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583500C>A | CA472038432 | KCNQ1 | c.726C>A (p.Ala242=) c.543C>A (p.Ala181=) c.987C>A (p.Ala329=) c.606C>A (p.Ala202=) c.189C>A (p.Ala63=) | |
| 11 | g.2583500C= | CA1948225005 | KCNQ1 | c.726C= (p.Ala242=) c.543C= (p.Ala181=) c.987C= (p.Ala329=) c.606C= (p.Ala202=) c.189C= (p.Ala63=) | |
| 11 | g.2583500C>G | CA472038430 | KCNQ1 | c.726C>G (p.Ala242=) c.543C>G (p.Ala181=) c.987C>G (p.Ala329=) c.606C>G (p.Ala202=) c.189C>G (p.Ala63=) | |
| 11 | g.2583500C>T | CA472038431 | KCNQ1 | c.726C>T (p.Ala242=) c.543C>T (p.Ala181=) c.987C>T (p.Ala329=) c.606C>T (p.Ala202=) c.189C>T (p.Ala63=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2583501T>A | CA379133054 | KCNQ1 | c.727T>A (p.Ser243Thr) c.544T>A (p.Ser182Thr) c.988T>A (p.Ser330Thr) c.607T>A (p.Ser203Thr) c.190T>A (p.Ser64Thr) | |
| 11 | g.2583501T>C | CA379133056 | KCNQ1 | c.727T>C (p.Ser243Pro) c.544T>C (p.Ser182Pro) c.988T>C (p.Ser330Pro) c.607T>C (p.Ser203Pro) c.190T>C (p.Ser64Pro) | |
| 11 | g.2583501T>G | CA379133055 | KCNQ1 | c.727T>G (p.Ser243Ala) c.544T>G (p.Ser182Ala) c.988T>G (p.Ser330Ala) c.607T>G (p.Ser203Ala) c.190T>G (p.Ser64Ala) | |
| 11 | g.2583502C>A | CA379133057 | KCNQ1 | c.728C>A (p.Ser243Tyr) c.545C>A (p.Ser182Tyr) c.989C>A (p.Ser330Tyr) c.608C>A (p.Ser203Tyr) c.191C>A (p.Ser64Tyr) | ClinVar |
| 11 | g.2583502C>G | CA379133059 | KCNQ1 | c.728C>G (p.Ser243Cys) c.545C>G (p.Ser182Cys) c.989C>G (p.Ser330Cys) c.608C>G (p.Ser203Cys) c.191C>G (p.Ser64Cys) | |
| 11 | g.2583502C>T | CA379133058 | KCNQ1 | c.728C>T (p.Ser243Phe) c.545C>T (p.Ser182Phe) c.989C>T (p.Ser330Phe) c.608C>T (p.Ser203Phe) c.191C>T (p.Ser64Phe) | |
| 11 | g.2583502_2583505delinsCCTG | CA1948225010 | KCNQ1 | c.728_731delinsCCTG (p.Ser243=) c.545_548delinsCCTG (p.Ser182=) c.989_992delinsCCTG (p.Ser330=) c.608_611delinsCCTG (p.Ser203=) c.191_194delinsCCTG (p.Ser64=) | |
| 11 | g.2583503C>A | CA472038433 | KCNQ1 | c.729C>A (p.Ser243=) c.546C>A (p.Ser182=) c.990C>A (p.Ser330=) c.609C>A (p.Ser203=) c.192C>A (p.Ser64=) | |
| 11 | g.2583503C>G | CA472038434 | KCNQ1 | c.729C>G (p.Ser243=) c.546C>G (p.Ser182=) c.990C>G (p.Ser330=) c.609C>G (p.Ser203=) c.192C>G (p.Ser64=) | |
| 11 | g.2583503C>T | CA472038435 | KCNQ1 | c.729C>T (p.Ser243=) c.546C>T (p.Ser182=) c.990C>T (p.Ser330=) c.609C>T (p.Ser203=) c.192C>T (p.Ser64=) | |
| 11 | g.2583505_2583507del | CA934462739 | KCNQ1 | c.731_733del (p.Cys244del) c.548_550del (p.Cys183del) c.992_994del (p.Cys331del) c.611_613del (p.Cys204del) c.194_196del (p.Cys65del) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2583504T>A | CA379133060 | KCNQ1 | c.730T>A (p.Cys244Ser) c.547T>A (p.Cys183Ser) c.991T>A (p.Cys331Ser) c.610T>A (p.Cys204Ser) c.193T>A (p.Cys65Ser) | |
| 11 | g.2583504T>C | CA379133061 | KCNQ1 | c.730T>C (p.Cys244Arg) c.547T>C (p.Cys183Arg) c.991T>C (p.Cys331Arg) c.610T>C (p.Cys204Arg) c.193T>C (p.Cys65Arg) | |
| 11 | g.2583504T>G | CA379133062 | KCNQ1 | c.730T>G (p.Cys244Gly) c.547T>G (p.Cys183Gly) c.991T>G (p.Cys331Gly) c.610T>G (p.Cys204Gly) c.193T>G (p.Cys65Gly) | |
| 11 | g.2583505G>A | CA379133063 | KCNQ1 | c.731G>A (p.Cys244Tyr) c.548G>A (p.Cys183Tyr) c.992G>A (p.Cys331Tyr) c.611G>A (p.Cys204Tyr) c.194G>A (p.Cys65Tyr) | ClinVar dbSNP |
| 11 | g.2583505G>C | CA379133064 | KCNQ1 | c.731G>C (p.Cys244Ser) c.548G>C (p.Cys183Ser) c.992G>C (p.Cys331Ser) c.611G>C (p.Cys204Ser) c.194G>C (p.Cys65Ser) | |
| 11 | g.2583505G= | CA1948225014 | KCNQ1 | c.731G= (p.Cys244=) c.548G= (p.Cys183=) c.992G= (p.Cys331=) c.611G= (p.Cys204=) c.194G= (p.Cys65=) | |
| 11 | g.2583505G>T | CA379133065 | KCNQ1 | c.731G>T (p.Cys244Phe) c.548G>T (p.Cys183Phe) c.992G>T (p.Cys331Phe) c.611G>T (p.Cys204Phe) c.194G>T (p.Cys65Phe) | |
| 11 | g.2583506C>A | CA379133066 | KCNQ1 | c.732C>A (p.Cys244Ter) c.549C>A (p.Cys183Ter) c.993C>A (p.Cys331Ter) c.612C>A (p.Cys204Ter) c.195C>A (p.Cys65Ter) | |
| 11 | g.2583506C>G | CA379133067 | KCNQ1 | c.732C>G (p.Cys244Trp) c.549C>G (p.Cys183Trp) c.993C>G (p.Cys331Trp) c.612C>G (p.Cys204Trp) c.195C>G (p.Cys65Trp) | |
| 11 | g.2583506C>T | CA472038436 | KCNQ1 | c.732C>T (p.Cys244=) c.549C>T (p.Cys183=) c.993C>T (p.Cys331=) c.612C>T (p.Cys204=) c.195C>T (p.Cys65=) | COSMIC COSMIC |
| 11 | g.2583507T>A | CA379133068 | KCNQ1 | c.733T>A (p.Phe245Ile) c.550T>A (p.Phe184Ile) c.994T>A (p.Phe332Ile) c.613T>A (p.Phe205Ile) c.196T>A (p.Phe66Ile) | |
| 11 | g.2583507T>C | CA379133069 | KCNQ1 | c.733T>C (p.Phe245Leu) c.550T>C (p.Phe184Leu) c.994T>C (p.Phe332Leu) c.613T>C (p.Phe205Leu) c.196T>C (p.Phe66Leu) | |
| 11 | g.2583507T>G | CA379133070 | KCNQ1 | c.733T>G (p.Phe245Val) c.550T>G (p.Phe184Val) c.994T>G (p.Phe332Val) c.613T>G (p.Phe205Val) c.196T>G (p.Phe66Val) | |
| 11 | g.2583507_2583509delinsTTC | CA1948225016 | KCNQ1 | c.733_735delinsTTC (p.Phe245=) c.550_552delinsTTC (p.Phe184=) c.994_996delinsTTC (p.Phe332=) c.613_615delinsTTC (p.Phe205=) c.196_198delinsTTC (p.Phe66=) | |
| 11 | g.2583508T>A | CA379133073 | KCNQ1 | c.734T>A (p.Phe245Tyr) c.551T>A (p.Phe184Tyr) c.995T>A (p.Phe332Tyr) c.614T>A (p.Phe205Tyr) c.197T>A (p.Phe66Tyr) | |
| 11 | g.2583508T>C | CA379133071 | KCNQ1 | c.734T>C (p.Phe245Ser) c.551T>C (p.Phe184Ser) c.995T>C (p.Phe332Ser) c.614T>C (p.Phe205Ser) c.197T>C (p.Phe66Ser) | |
| 11 | g.2583508T>G | CA379133072 | KCNQ1 | c.734T>G (p.Phe245Cys) c.551T>G (p.Phe184Cys) c.995T>G (p.Phe332Cys) c.614T>G (p.Phe205Cys) c.197T>G (p.Phe66Cys) | |
| 11 | g.2583511_2583512del | CA008983 | KCNQ1 | c.737_738del (p.Ser246CysfsTer?) c.554_555del (p.Ser185CysfsTer?) c.998_999del (p.Ser333CysfsTer?) c.617_618del (p.Ser206CysfsTer?) c.200_201del (p.Ser67CysfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2583509C>A | CA379133074 | KCNQ1 | c.735C>A (p.Phe245Leu) c.552C>A (p.Phe184Leu) c.996C>A (p.Phe332Leu) c.615C>A (p.Phe205Leu) c.198C>A (p.Phe66Leu) | |
| 11 | g.2583509C= | CA1948225024 | KCNQ1 | c.735C= (p.Phe245=) c.552C= (p.Phe184=) c.996C= (p.Phe332=) c.615C= (p.Phe205=) c.198C= (p.Phe66=) | |
| 11 | g.2583509C>G | CA379133075 | KCNQ1 | c.735C>G (p.Phe245Leu) c.552C>G (p.Phe184Leu) c.996C>G (p.Phe332Leu) c.615C>G (p.Phe205Leu) c.198C>G (p.Phe66Leu) | gnomAD v4 |
| 11 | g.2583509C>T | CA472038437 | KCNQ1 | c.735C>T (p.Phe245=) c.552C>T (p.Phe184=) c.996C>T (p.Phe332=) c.615C>T (p.Phe205=) c.198C>T (p.Phe66=) | ClinVar dbSNP |
| 11 | g.2583509_2583513delinsCTCTG | CA1948225022 | KCNQ1 | c.735_739delinsCTCTG (p.Phe245=) c.552_556delinsCTCTG (p.Phe184=) c.996_1000delinsCTCTG (p.Phe332=) c.615_619delinsCTCTG (p.Phe205=) c.198_202delinsCTCTG (p.Phe66=) | |
| 11 | g.2583510T>A | CA379133076 | KCNQ1 | c.736T>A (p.Ser246Thr) c.553T>A (p.Ser185Thr) c.997T>A (p.Ser333Thr) c.616T>A (p.Ser206Thr) c.199T>A (p.Ser67Thr) | |
| 11 | g.2583510T>C | CA379133077 | KCNQ1 | c.736T>C (p.Ser246Pro) c.553T>C (p.Ser185Pro) c.997T>C (p.Ser333Pro) c.616T>C (p.Ser206Pro) c.199T>C (p.Ser67Pro) | |
| 11 | g.2583510T>G | CA379133078 | KCNQ1 | c.736T>G (p.Ser246Ala) c.553T>G (p.Ser185Ala) c.997T>G (p.Ser333Ala) c.616T>G (p.Ser206Ala) c.199T>G (p.Ser67Ala) | |
| 11 | g.2583513_2583516del | CA597110463 | KCNQ1 | c.739_742del (p.Val247LeufsTer?) c.556_559del (p.Val186LeufsTer?) c.1000_1003del (p.Val334LeufsTer19) c.619_622del (p.Val207LeufsTer19) c.202_205del (p.Val68LeufsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2583511C>A | CA379133079 | KCNQ1 | c.737C>A (p.Ser246Tyr) c.554C>A (p.Ser185Tyr) c.998C>A (p.Ser333Tyr) c.617C>A (p.Ser206Tyr) c.200C>A (p.Ser67Tyr) | |
| 11 | g.2583511C>G | CA379133080 | KCNQ1 | c.737C>G (p.Ser246Cys) c.554C>G (p.Ser185Cys) c.998C>G (p.Ser333Cys) c.617C>G (p.Ser206Cys) c.200C>G (p.Ser67Cys) | |
| 11 | g.2583511C>T | CA379133081 | KCNQ1 | c.737C>T (p.Ser246Phe) c.554C>T (p.Ser185Phe) c.998C>T (p.Ser333Phe) c.617C>T (p.Ser206Phe) c.200C>T (p.Ser67Phe) | |
| 11 | g.2583512T>A | CA472038438 | KCNQ1 | c.738T>A (p.Ser246=) c.555T>A (p.Ser185=) c.999T>A (p.Ser333=) c.618T>A (p.Ser206=) c.201T>A (p.Ser67=) | |
| 11 | g.2583512T>C | CA472038439 | KCNQ1 | c.738T>C (p.Ser246=) c.555T>C (p.Ser185=) c.999T>C (p.Ser333=) c.618T>C (p.Ser206=) c.201T>C (p.Ser67=) | |
| 11 | g.2583512T>G | CA041958 | KCNQ1 | c.738T>G (p.Ser246=) c.555T>G (p.Ser185=) c.999T>G (p.Ser333=) c.618T>G (p.Ser206=) c.201T>G (p.Ser67=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2583512T= | CA1948225030 | KCNQ1 | c.738T= (p.Ser246=) c.555T= (p.Ser185=) c.999T= (p.Ser333=) c.618T= (p.Ser206=) c.201T= (p.Ser67=) | |
| 11 | g.2583513_2583514del | CA2695213188 | KCNQ1 | c.739_740del (p.Val247LeufsTer?) c.556_557del (p.Val186LeufsTer?) c.1000_1001del (p.Val334LeufsTer?) c.619_620del (p.Val207LeufsTer?) c.202_203del (p.Val68LeufsTer?) | |
| 11 | g.2583513G>A | CA379133084 | KCNQ1 | c.739G>A (p.Val247Ile) c.556G>A (p.Val186Ile) c.1000G>A (p.Val334Ile) c.619G>A (p.Val207Ile) c.202G>A (p.Val68Ile) | gnomAD v4 |
| 11 | g.2583513G>C | CA379133083 | KCNQ1 | c.739G>C (p.Val247Leu) c.556G>C (p.Val186Leu) c.1000G>C (p.Val334Leu) c.619G>C (p.Val207Leu) c.202G>C (p.Val68Leu) | |
| 11 | g.2583513G>T | CA379133082 | KCNQ1 | c.739G>T (p.Val247Phe) c.556G>T (p.Val186Phe) c.1000G>T (p.Val334Phe) c.619G>T (p.Val207Phe) c.202G>T (p.Val68Phe) | |
| 11 | g.2583514T>A | CA379133085 | KCNQ1 | c.740T>A (p.Val247Asp) c.557T>A (p.Val186Asp) c.1001T>A (p.Val334Asp) c.620T>A (p.Val207Asp) c.203T>A (p.Val68Asp) | |
| 11 | g.2583514T>C | CA379133086 | KCNQ1 | c.740T>C (p.Val247Ala) c.557T>C (p.Val186Ala) c.1001T>C (p.Val334Ala) c.620T>C (p.Val207Ala) c.203T>C (p.Val68Ala) | |
| 11 | g.2583514T>G | CA379133087 | KCNQ1 | c.740T>G (p.Val247Gly) c.557T>G (p.Val186Gly) c.1001T>G (p.Val334Gly) c.620T>G (p.Val207Gly) c.203T>G (p.Val68Gly) | |
| 11 | g.2583515C>A | CA472038440 | KCNQ1 | c.741C>A (p.Val247=) c.558C>A (p.Val186=) c.1002C>A (p.Val334=) c.621C>A (p.Val207=) c.204C>A (p.Val68=) | |
| 11 | g.2583515C= | CA1948225036 | KCNQ1 | c.741C= (p.Val247=) c.558C= (p.Val186=) c.1002C= (p.Val334=) c.621C= (p.Val207=) c.204C= (p.Val68=) | |
| 11 | g.2583515C>G | CA472038441 | KCNQ1 | c.741C>G (p.Val247=) c.558C>G (p.Val186=) c.1002C>G (p.Val334=) c.621C>G (p.Val207=) c.204C>G (p.Val68=) | |
| 11 | g.2583515C>T | CA472038442 | KCNQ1 | c.741C>T (p.Val247=) c.558C>T (p.Val186=) c.1002C>T (p.Val334=) c.621C>T (p.Val207=) c.204C>T (p.Val68=) | dbSNP gnomAD v4 |
| 11 | g.2583515_2583517delinsCTT | CA1948225035 | KCNQ1 | c.741_743delinsCTT (p.Val247=) c.558_560delinsCTT (p.Val186=) c.1002_1004delinsCTT (p.Val334=) c.621_623delinsCTT (p.Val207=) c.204_206delinsCTT (p.Val68=) | |
| 11 | g.2583516T>A | CA379133088 | KCNQ1 | c.742T>A (p.Phe248Ile) c.559T>A (p.Phe187Ile) c.1003T>A (p.Phe335Ile) c.622T>A (p.Phe208Ile) c.205T>A (p.Phe69Ile) | |
| 11 | g.2583516T>C | CA004792 | KCNQ1 | c.742T>C (p.Phe248Leu) c.559T>C (p.Phe187Leu) c.1003T>C (p.Phe335Leu) c.622T>C (p.Phe208Leu) c.205T>C (p.Phe69Leu) | ClinVar dbSNP |
| 11 | g.2583516T>G | CA379133089 | KCNQ1 | c.742T>G (p.Phe248Val) c.559T>G (p.Phe187Val) c.1003T>G (p.Phe335Val) c.622T>G (p.Phe208Val) c.205T>G (p.Phe69Val) | |
| 11 | g.2583516T= | CA1948225042 | KCNQ1 | c.742T= (p.Phe248=) c.559T= (p.Phe187=) c.1003T= (p.Phe335=) c.622T= (p.Phe208=) c.205T= (p.Phe69=) | |
| 11 | g.2583517_2583518del | CA004797 | KCNQ1 | c.743_744del (p.Phe248CysfsTer?) c.560_561del (p.Phe187CysfsTer?) c.1004_1005del (p.Phe335CysfsTer?) c.623_624del (p.Phe208CysfsTer?) c.206_207del (p.Phe69CysfsTer?) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583517T>A | CA379133090 | KCNQ1 | c.743T>A (p.Phe248Tyr) c.560T>A (p.Phe187Tyr) c.1004T>A (p.Phe335Tyr) c.623T>A (p.Phe208Tyr) c.206T>A (p.Phe69Tyr) | |
| 11 | g.2583517T>C | CA379133091 | KCNQ1 | c.743T>C (p.Phe248Ser) c.560T>C (p.Phe187Ser) c.1004T>C (p.Phe335Ser) c.623T>C (p.Phe208Ser) c.206T>C (p.Phe69Ser) | |
| 11 | g.2583517T>G | CA379133092 | KCNQ1 | c.743T>G (p.Phe248Cys) c.560T>G (p.Phe187Cys) c.1004T>G (p.Phe335Cys) c.623T>G (p.Phe208Cys) c.206T>G (p.Phe69Cys) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583518T>A | CA379133093 | KCNQ1 | c.744T>A (p.Phe248Leu) c.561T>A (p.Phe187Leu) c.1005T>A (p.Phe335Leu) c.624T>A (p.Phe208Leu) c.207T>A (p.Phe69Leu) | |
| 11 | g.2583518T>C | CA472038443 | KCNQ1 | c.744T>C (p.Phe248=) c.561T>C (p.Phe187=) c.1005T>C (p.Phe335=) c.624T>C (p.Phe208=) c.207T>C (p.Phe69=) | |
| 11 | g.2583518T>G | CA379133094 | KCNQ1 | c.744T>G (p.Phe248Leu) c.561T>G (p.Phe187Leu) c.1005T>G (p.Phe335Leu) c.624T>G (p.Phe208Leu) c.207T>G (p.Phe69Leu) | |
| 11 | g.2583519G>A | CA379133097 | KCNQ1 | c.745G>A (p.Ala249Thr) c.562G>A (p.Ala188Thr) c.1006G>A (p.Ala336Thr) c.625G>A (p.Ala209Thr) c.208G>A (p.Ala70Thr) | |
| 11 | g.2583519G>C | CA379133095 | KCNQ1 | c.745G>C (p.Ala249Pro) c.562G>C (p.Ala188Pro) c.1006G>C (p.Ala336Pro) c.625G>C (p.Ala209Pro) c.208G>C (p.Ala70Pro) | |
| 11 | g.2583519G= | CA1948225044 | KCNQ1 | c.745G= (p.Ala249=) c.562G= (p.Ala188=) c.1006G= (p.Ala336=) c.625G= (p.Ala209=) c.208G= (p.Ala70=) | |
| 11 | g.2583519G>T | CA379133096 | KCNQ1 | c.745G>T (p.Ala249Ser) c.562G>T (p.Ala188Ser) c.1006G>T (p.Ala336Ser) c.625G>T (p.Ala209Ser) c.208G>T (p.Ala70Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2583519_2583520delinsGC | CA1948225043 | KCNQ1 | c.745_746delinsGC (p.Ala249=) c.562_563delinsGC (p.Ala188=) c.1006_1007delinsGC (p.Ala336=) c.625_626delinsGC (p.Ala209=) c.208_209delinsGC (p.Ala70=) | |
| 11 | g.2583520C>A | CA379133098 | KCNQ1 | c.746C>A (p.Ala249Asp) c.563C>A (p.Ala188Asp) c.1007C>A (p.Ala336Asp) c.626C>A (p.Ala209Asp) c.209C>A (p.Ala70Asp) | |
| 11 | g.2583520C>G | CA379133099 | KCNQ1 | c.746C>G (p.Ala249Gly) c.563C>G (p.Ala188Gly) c.1007C>G (p.Ala336Gly) c.626C>G (p.Ala209Gly) c.209C>G (p.Ala70Gly) | |
| 11 | g.2583520C>T | CA379133100 | KCNQ1 | c.746C>T (p.Ala249Val) c.563C>T (p.Ala188Val) c.1007C>T (p.Ala336Val) c.626C>T (p.Ala209Val) c.209C>T (p.Ala70Val) | |
| 11 | g.2583521del | CA004806 | KCNQ1 | c.747del (p.Ile250SerfsTer?) c.564del (p.Ile189SerfsTer?) c.1008del (p.Ile337SerfsTer17) c.627del (p.Ile210SerfsTer17) c.210del (p.Ile71SerfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2583521C>A | CA472038444 | KCNQ1 | c.747C>A (p.Ala249=) c.564C>A (p.Ala188=) c.1008C>A (p.Ala336=) c.627C>A (p.Ala209=) c.210C>A (p.Ala70=) | |
| 11 | g.2583521C= | CA1948225051 | KCNQ1 | c.747C= (p.Ala249=) c.564C= (p.Ala188=) c.1008C= (p.Ala336=) c.627C= (p.Ala209=) c.210C= (p.Ala70=) | |
| 11 | g.2583521C>G | CA472038445 | KCNQ1 | c.747C>G (p.Ala249=) c.564C>G (p.Ala188=) c.1008C>G (p.Ala336=) c.627C>G (p.Ala209=) c.210C>G (p.Ala70=) | |
| 11 | g.2583521C>T | CA026681 | KCNQ1 | c.747C>T (p.Ala249=) c.564C>T (p.Ala188=) c.1008C>T (p.Ala336=) c.627C>T (p.Ala209=) c.210C>T (p.Ala70=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2583522A= | CA1948225054 | KCNQ1 | c.748A= (p.Ile250=) c.565A= (p.Ile189=) c.1009A= (p.Ile337=) c.628A= (p.Ile210=) c.211A= (p.Ile71=) | |
| 11 | g.2583522A>C | CA379133101 | KCNQ1 | c.748A>C (p.Ile250Leu) c.565A>C (p.Ile189Leu) c.1009A>C (p.Ile337Leu) c.628A>C (p.Ile210Leu) c.211A>C (p.Ile71Leu) | |
| 11 | g.2583522A>G | CA216327355 | KCNQ1 | c.748A>G (p.Ile250Val) c.565A>G (p.Ile189Val) c.1009A>G (p.Ile337Val) c.628A>G (p.Ile210Val) c.211A>G (p.Ile71Val) | dbSNP gnomAD v4 |
| 11 | g.2583522A>T | CA004814 | KCNQ1 | c.748A>T (p.Ile250Phe) c.565A>T (p.Ile189Phe) c.1009A>T (p.Ile337Phe) c.628A>T (p.Ile210Phe) c.211A>T (p.Ile71Phe) | ClinVar dbSNP |
| 11 | g.2583523T>A | CA379133102 | KCNQ1 | c.749T>A (p.Ile250Asn) c.566T>A (p.Ile189Asn) c.1010T>A (p.Ile337Asn) c.629T>A (p.Ile210Asn) c.212T>A (p.Ile71Asn) | |
| 11 | g.2583523T>C | CA379133103 | KCNQ1 | c.749T>C (p.Ile250Thr) c.566T>C (p.Ile189Thr) c.1010T>C (p.Ile337Thr) c.629T>C (p.Ile210Thr) c.212T>C (p.Ile71Thr) | |
| 11 | g.2583523T>G | CA379133104 | KCNQ1 | c.749T>G (p.Ile250Ser) c.566T>G (p.Ile189Ser) c.1010T>G (p.Ile337Ser) c.629T>G (p.Ile210Ser) c.212T>G (p.Ile71Ser) | |
| 11 | g.2583524C>A | CA472038446 | KCNQ1 | c.750C>A (p.Ile250=) c.567C>A (p.Ile189=) c.1011C>A (p.Ile337=) c.630C>A (p.Ile210=) c.213C>A (p.Ile71=) | |
| 11 | g.2583524C= | CA1948225067 | KCNQ1 | c.750C= (p.Ile250=) c.567C= (p.Ile189=) c.1011C= (p.Ile337=) c.630C= (p.Ile210=) c.213C= (p.Ile71=) | |
| 11 | g.2583524C>G | CA004816 | KCNQ1 | c.750C>G (p.Ile250Met) c.567C>G (p.Ile189Met) c.1011C>G (p.Ile337Met) c.630C>G (p.Ile210Met) c.213C>G (p.Ile71Met) | ClinVar dbSNP |
| 11 | g.2583524C>T | CA472038447 | KCNQ1 | c.750C>T (p.Ile250=) c.567C>T (p.Ile189=) c.1011C>T (p.Ile337=) c.630C>T (p.Ile210=) c.213C>T (p.Ile71=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.2583525T>A | CA379133106 | KCNQ1 | c.751T>A (p.Ser251Thr) c.568T>A (p.Ser190Thr) c.1012T>A (p.Ser338Thr) c.631T>A (p.Ser211Thr) c.214T>A (p.Ser72Thr) | |
| 11 | g.2583525T>C | CA379133107 | KCNQ1 | c.751T>C (p.Ser251Pro) c.568T>C (p.Ser190Pro) c.1012T>C (p.Ser338Pro) c.631T>C (p.Ser211Pro) c.214T>C (p.Ser72Pro) | |
| 11 | g.2583525T>G | CA379133105 | KCNQ1 | c.751T>G (p.Ser251Ala) c.568T>G (p.Ser190Ala) c.1012T>G (p.Ser338Ala) c.631T>G (p.Ser211Ala) c.214T>G (p.Ser72Ala) | |
| 11 | g.2583526C>A | CA379133109 | KCNQ1 | c.752C>A (p.Ser251Tyr) c.569C>A (p.Ser190Tyr) c.1013C>A (p.Ser338Tyr) c.632C>A (p.Ser211Tyr) c.215C>A (p.Ser72Tyr) | |
| 11 | g.2583526C= | CA1948225072 | KCNQ1 | c.752C= (p.Ser251=) c.569C= (p.Ser190=) c.1013C= (p.Ser338=) c.632C= (p.Ser211=) c.215C= (p.Ser72=) | |
| 11 | g.2583526C>G | CA379133108 | KCNQ1 | c.752C>G (p.Ser251Cys) c.569C>G (p.Ser190Cys) c.1013C>G (p.Ser338Cys) c.632C>G (p.Ser211Cys) c.215C>G (p.Ser72Cys) | |
| 11 | g.2583526C>T | CA004825 | KCNQ1 | c.752C>T (p.Ser251Phe) c.569C>T (p.Ser190Phe) c.1013C>T (p.Ser338Phe) c.632C>T (p.Ser211Phe) c.215C>T (p.Ser72Phe) | ClinVar dbSNP |
| 11 | g.2583526_2583529delinsCCTT | CA1948225074 | KCNQ1 | c.752_755delinsCCTT (p.Ser251=) c.569_572delinsCCTT (p.Ser190=) c.1013_1016delinsCCTT (p.Ser338=) c.632_635delinsCCTT (p.Ser211=) c.215_218delinsCCTT (p.Ser72=) | |
| 11 | g.2583527C>A | CA472038450 | KCNQ1 | c.753C>A (p.Ser251=) c.570C>A (p.Ser190=) c.1014C>A (p.Ser338=) c.633C>A (p.Ser211=) c.216C>A (p.Ser72=) | gnomAD v4 |
| 11 | g.2583527C>G | CA472038448 | KCNQ1 | c.753C>G (p.Ser251=) c.570C>G (p.Ser190=) c.1014C>G (p.Ser338=) c.633C>G (p.Ser211=) c.216C>G (p.Ser72=) | |
| 11 | g.2583527C>T | CA472038449 | KCNQ1 | c.753C>T (p.Ser251=) c.570C>T (p.Ser190=) c.1014C>T (p.Ser338=) c.633C>T (p.Ser211=) c.216C>T (p.Ser72=) | ClinVar |
| 11 | g.2583530_2583532del | CA004847 | KCNQ1 | c.756_758del (p.Phe253del) c.573_575del (p.Phe192del) c.1017_1019del (p.Phe340del) c.636_638del (p.Phe213del) c.219_221del (p.Phe74del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2583528T>A | CA379133110 | KCNQ1 | c.754T>A (p.Phe252Ile) c.571T>A (p.Phe191Ile) c.1015T>A (p.Phe339Ile) c.634T>A (p.Phe212Ile) c.217T>A (p.Phe73Ile) | |
| 11 | g.2583528T>C | CA379133111 | KCNQ1 | c.754T>C (p.Phe252Leu) c.571T>C (p.Phe191Leu) c.1015T>C (p.Phe339Leu) c.634T>C (p.Phe212Leu) c.217T>C (p.Phe73Leu) | ClinVar |
| 11 | g.2583528T>G | CA379133112 | KCNQ1 | c.754T>G (p.Phe252Val) c.571T>G (p.Phe191Val) c.1015T>G (p.Phe339Val) c.634T>G (p.Phe212Val) c.217T>G (p.Phe73Val) | dbSNP |
| 11 | g.2583529T>A | CA004833 | KCNQ1 | c.755T>A (p.Phe252Tyr) c.572T>A (p.Phe191Tyr) c.1016T>A (p.Phe339Tyr) c.635T>A (p.Phe212Tyr) c.218T>A (p.Phe73Tyr) | ClinVar dbSNP |
| 11 | g.2583529T>C | CA004838 | KCNQ1 | c.755T>C (p.Phe252Ser) c.572T>C (p.Phe191Ser) c.1016T>C (p.Phe339Ser) c.635T>C (p.Phe212Ser) c.218T>C (p.Phe73Ser) | ClinVar dbSNP |
| 11 | g.2583529T>G | CA379133113 | KCNQ1 | c.755T>G (p.Phe252Cys) c.572T>G (p.Phe191Cys) c.1016T>G (p.Phe339Cys) c.635T>G (p.Phe212Cys) c.218T>G (p.Phe73Cys) | |
| 11 | g.2583529T= | CA1948225090 | KCNQ1 | c.755T= (p.Phe252=) c.572T= (p.Phe191=) c.1016T= (p.Phe339=) c.635T= (p.Phe212=) c.218T= (p.Phe73=) | |
| 11 | g.2583530C>A | CA379133114 | KCNQ1 | c.756C>A (p.Phe252Leu) c.573C>A (p.Phe191Leu) c.1017C>A (p.Phe339Leu) c.636C>A (p.Phe212Leu) c.219C>A (p.Phe73Leu) | COSMIC COSMIC |
| 11 | g.2583530C>G | CA379133115 | KCNQ1 | c.756C>G (p.Phe252Leu) c.573C>G (p.Phe191Leu) c.1017C>G (p.Phe339Leu) c.636C>G (p.Phe212Leu) c.219C>G (p.Phe73Leu) | |
| 11 | g.2583530C>T | CA472038451 | KCNQ1 | c.756C>T (p.Phe252=) c.573C>T (p.Phe191=) c.1017C>T (p.Phe339=) c.636C>T (p.Phe212=) c.219C>T (p.Phe73=) | |
| 11 | g.2583530_2583533delinsCTTT | CA1948225095 | KCNQ1 | c.756_759delinsCTTT (p.Phe252=) c.573_576delinsCTTT (p.Phe191=) c.1017_1020delinsCTTT (p.Phe339=) c.636_639delinsCTTT (p.Phe212=) c.219_222delinsCTTT (p.Phe73=) | |
| 11 | g.2583531T>A | CA379133118 | KCNQ1 | c.757T>A (p.Phe253Ile) c.574T>A (p.Phe192Ile) c.1018T>A (p.Phe340Ile) c.637T>A (p.Phe213Ile) c.220T>A (p.Phe74Ile) | |
| 11 | g.2583531T>C | CA379133117 | KCNQ1 | c.757T>C (p.Phe253Leu) c.574T>C (p.Phe192Leu) c.1018T>C (p.Phe340Leu) c.637T>C (p.Phe213Leu) c.220T>C (p.Phe74Leu) | ClinVar dbSNP |
| 11 | g.2583531T>G | CA379133116 | KCNQ1 | c.757T>G (p.Phe253Val) c.574T>G (p.Phe192Val) c.1018T>G (p.Phe340Val) c.637T>G (p.Phe213Val) c.220T>G (p.Phe74Val) | |
| 11 | g.2583531_2583533del | CA004863 | KCNQ1 | c.757_759del (p.Phe253del) c.574_576del (p.Phe192del) c.1018_1020del (p.Phe340del) c.637_639del (p.Phe213del) c.220_222del (p.Phe74del) | ClinVar dbSNP |
| 11 | g.2583532T>A | CA379133119 | KCNQ1 | c.758T>A (p.Phe253Tyr) c.575T>A (p.Phe192Tyr) c.1019T>A (p.Phe340Tyr) c.638T>A (p.Phe213Tyr) c.221T>A (p.Phe74Tyr) | |
| 11 | g.2583532T>C | CA026720 | KCNQ1 | c.758T>C (p.Phe253Ser) c.575T>C (p.Phe192Ser) c.1019T>C (p.Phe340Ser) c.638T>C (p.Phe213Ser) c.221T>C (p.Phe74Ser) | dbSNP ExAC gnomAD v2 |
| 11 | g.2583532T>G | CA379133120 | KCNQ1 | c.758T>G (p.Phe253Cys) c.575T>G (p.Phe192Cys) c.1019T>G (p.Phe340Cys) c.638T>G (p.Phe213Cys) c.221T>G (p.Phe74Cys) | |
| 11 | g.2583532T= | CA1948225105 | KCNQ1 | c.758T= (p.Phe253=) c.575T= (p.Phe192=) c.1019T= (p.Phe340=) c.638T= (p.Phe213=) c.221T= (p.Phe74=) | |
| 11 | g.2583533T>A | CA379133121 | KCNQ1 | c.759T>A (p.Phe253Leu) c.576T>A (p.Phe192Leu) c.1020T>A (p.Phe340Leu) c.639T>A (p.Phe213Leu) c.222T>A (p.Phe74Leu) | |
| 11 | g.2583533T>C | CA472038452 | KCNQ1 | c.759T>C (p.Phe253=) c.576T>C (p.Phe192=) c.1020T>C (p.Phe340=) c.639T>C (p.Phe213=) c.222T>C (p.Phe74=) | |
| 11 | g.2583533T>G | CA379133122 | KCNQ1 | c.759T>G (p.Phe253Leu) c.576T>G (p.Phe192Leu) c.1020T>G (p.Phe340Leu) c.639T>G (p.Phe213Leu) c.222T>G (p.Phe74Leu) | ClinVar |
| 11 | g.2583534G>A | CA379133123 | KCNQ1 | c.760G>A (p.Ala254Thr) c.577G>A (p.Ala193Thr) c.1021G>A (p.Ala341Thr) c.640G>A (p.Ala214Thr) c.223G>A (p.Ala75Thr) | ClinVar |
| 11 | g.2583534G>C | CA379133124 | KCNQ1 | c.760G>C (p.Ala254Pro) c.577G>C (p.Ala193Pro) c.1021G>C (p.Ala341Pro) c.640G>C (p.Ala214Pro) c.223G>C (p.Ala75Pro) | |
| 11 | g.2583534G>T | CA379133125 | KCNQ1 | c.760G>T (p.Ala254Ser) c.577G>T (p.Ala193Ser) c.1021G>T (p.Ala341Ser) c.640G>T (p.Ala214Ser) c.223G>T (p.Ala75Ser) | |
| 11 | g.2583535C>A | CA004880 | KCNQ1 | c.761C>A (p.Ala254Glu) c.578C>A (p.Ala193Glu) c.1022C>A (p.Ala341Glu) c.641C>A (p.Ala214Glu) c.224C>A (p.Ala75Glu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583535C= | CA1948225116 | KCNQ1 | c.761C= (p.Ala254=) c.578C= (p.Ala193=) c.1022C= (p.Ala341=) c.641C= (p.Ala214=) c.224C= (p.Ala75=) | |
| 11 | g.2583535C>G | CA004889 | KCNQ1 | c.761C>G (p.Ala254Gly) c.578C>G (p.Ala193Gly) c.1022C>G (p.Ala341Gly) c.641C>G (p.Ala214Gly) c.224C>G (p.Ala75Gly) | ClinVar dbSNP |
| 11 | g.2583535C>T | CA004897 | KCNQ1 | c.761C>T (p.Ala254Val) c.578C>T (p.Ala193Val) c.1022C>T (p.Ala341Val) c.641C>T (p.Ala214Val) c.224C>T (p.Ala75Val) | ClinVar dbSNP COSMIC |
| 11 | g.2583536G>A | CA026730 | KCNQ1 | c.762G>A (p.Ala254=) c.579G>A (p.Ala193=) c.1023G>A (p.Ala341=) c.642G>A (p.Ala214=) c.225G>A (p.Ala75=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2583536G>C | CA472038453 | KCNQ1 | c.762G>C (p.Ala254=) c.579G>C (p.Ala193=) c.1023G>C (p.Ala341=) c.642G>C (p.Ala214=) c.225G>C (p.Ala75=) | |
| 11 | g.2583536G= | CA1948225124 | KCNQ1 | c.762G= (p.Ala254=) c.579G= (p.Ala193=) c.1023G= (p.Ala341=) c.642G= (p.Ala214=) c.225G= (p.Ala75=) | |
| 11 | g.2583536G>T | CA472038454 | KCNQ1 | c.762G>T (p.Ala254=) c.579G>T (p.Ala193=) c.1023G>T (p.Ala341=) c.642G>T (p.Ala214=) c.225G>T (p.Ala75=) | |
| 11 | g.2583536_2583537delinsTT | CA2695213189 | KCNQ1 | c.762_763delinsTT (p.Leu255Phe) c.579_580delinsTT (p.Leu194Phe) c.1023_1024delinsTT (p.Leu342Phe) c.642_643delinsTT (p.Leu215Phe) c.225_226delinsTT (p.Leu76Phe) | |
| 11 | g.2583537C>A | CA379133126 | KCNQ1 | c.763C>A (p.Leu255Ile) c.580C>A (p.Leu194Ile) c.1024C>A (p.Leu342Ile) c.643C>A (p.Leu215Ile) c.226C>A (p.Leu76Ile) | |
| 11 | g.2583537C= | CA1948225134 | KCNQ1 | c.763C= (p.Leu255=) c.580C= (p.Leu194=) c.1024C= (p.Leu342=) c.643C= (p.Leu215=) c.226C= (p.Leu76=) | |
| 11 | g.2583537C>G | CA379133127 | KCNQ1 | c.763C>G (p.Leu255Val) c.580C>G (p.Leu194Val) c.1024C>G (p.Leu342Val) c.643C>G (p.Leu215Val) c.226C>G (p.Leu76Val) | |
| 11 | g.2583537C>T | CA004906 | KCNQ1 | c.763C>T (p.Leu255Phe) c.580C>T (p.Leu194Phe) c.1024C>T (p.Leu342Phe) c.643C>T (p.Leu215Phe) c.226C>T (p.Leu76Phe) | ClinVar dbSNP COSMIC COSMIC |
| 11 | g.2583538T>A | CA16613516 | KCNQ1 | c.764T>A (p.Leu255His) c.581T>A (p.Leu194His) c.1025T>A (p.Leu342His) c.644T>A (p.Leu215His) c.227T>A (p.Leu76His) | ClinVar dbSNP |
| 11 | g.2583538T>C | CA004915 | KCNQ1 | c.764T>C (p.Leu255Pro) c.581T>C (p.Leu194Pro) c.1025T>C (p.Leu342Pro) c.644T>C (p.Leu215Pro) c.227T>C (p.Leu76Pro) | dbSNP gnomAD v4 |
| 11 | g.2583538T>G | CA379133128 | KCNQ1 | c.764T>G (p.Leu255Arg) c.581T>G (p.Leu194Arg) c.1025T>G (p.Leu342Arg) c.644T>G (p.Leu215Arg) c.227T>G (p.Leu76Arg) | gnomAD v4 |
| 11 | g.2583538T= | CA1948225138 | KCNQ1 | c.764T= (p.Leu255=) c.581T= (p.Leu194=) c.1025T= (p.Leu342=) c.644T= (p.Leu215=) c.227T= (p.Leu76=) | |
| 11 | g.2583539C>A | CA472038455 | KCNQ1 | c.765C>A (p.Leu255=) c.582C>A (p.Leu194=) c.1026C>A (p.Leu342=) c.645C>A (p.Leu215=) c.228C>A (p.Leu76=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.2583539C= | CA1948225139 | KCNQ1 | c.765C= (p.Leu255=) c.582C= (p.Leu194=) c.1026C= (p.Leu342=) c.645C= (p.Leu215=) c.228C= (p.Leu76=) | |
| 11 | g.2583539C>G | CA472038456 | KCNQ1 | c.765C>G (p.Leu255=) c.582C>G (p.Leu194=) c.1026C>G (p.Leu342=) c.645C>G (p.Leu215=) c.228C>G (p.Leu76=) | ClinVar dbSNP |
| 11 | g.2583539C>T | CA472038457 | KCNQ1 | c.765C>T (p.Leu255=) c.582C>T (p.Leu194=) c.1026C>T (p.Leu342=) c.645C>T (p.Leu215=) c.228C>T (p.Leu76=) | gnomAD v4 |
| 11 | g.2583540C>A | CA379133129 | KCNQ1 | c.766C>A (p.Pro256Thr) c.583C>A (p.Pro195Thr) c.1027C>A (p.Pro343Thr) c.646C>A (p.Pro216Thr) c.229C>A (p.Pro77Thr) | |
| 11 | g.2583540C= | CA1948225144 | KCNQ1 | c.766C= (p.Pro256=) c.583C= (p.Pro195=) c.1027C= (p.Pro343=) c.646C= (p.Pro216=) c.229C= (p.Pro77=) | |
| 11 | g.2583540C>G | CA379133130 | KCNQ1 | c.766C>G (p.Pro256Ala) c.583C>G (p.Pro195Ala) c.1027C>G (p.Pro343Ala) c.646C>G (p.Pro216Ala) c.229C>G (p.Pro77Ala) | |
| 11 | g.2583540C>T | CA004923 | KCNQ1 | c.766C>T (p.Pro256Ser) c.583C>T (p.Pro195Ser) c.1027C>T (p.Pro343Ser) c.646C>T (p.Pro216Ser) c.229C>T (p.Pro77Ser) | ClinVar dbSNP COSMIC COSMIC |