| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |