| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.2572068_2572077del | CA891843059 | KCNQ1 | c.478_487del (p.Thr160SerfsTer13) c.478-11367_478-11358del (n.478-11367_478-11358del) c.739_748del (p.Thr247SerfsTer13) c.358_367del (p.Thr120SerfsTer13) c.124-11367_124-11358del (n.124-11367_124-11358del) | ClinVar dbSNP |
| 11 | g.2572068_2572078delinsACCTGGAGGCT | CA1948242719 | KCNQ1 | c.478_488delinsACCTGGAGGCT (p.Thr160=) c.478-11367_478-11357delinsACCTGGAGGCT (n.478-11367_478-11357delinsACCTGGAGGCT) c.739_749delinsACCTGGAGGCT (p.Thr247=) c.358_368delinsACCTGGAGGCT (p.Thr120=) c.124-11367_124-11357delinsACCTGGAGGCT (n.124-11367_124-11357delinsACCTGGAGGCT) | |
| 11 | g.2572074_2572083del | CA16613509 | KCNQ1 | c.484_493del (p.Arg162AlafsTer11) c.478-11361_478-11352del (n.478-11361_478-11352del) c.745_754del (p.Arg249AlafsTer11) c.364_373del (p.Arg122AlafsTer11) c.124-11361_124-11352del (n.124-11361_124-11352del) | ClinVar dbSNP |
| 11 | g.2572072_2572073delinsGG | CA1948242722 | KCNQ1 | c.482_483delinsGG (p.Trp161=) c.478-11363_478-11362delinsGG (n.478-11363_478-11362delinsGG) c.743_744delinsGG (p.Trp248=) c.362_363delinsGG (p.Trp121=) c.124-11363_124-11362delinsGG (n.124-11363_124-11362delinsGG) | |
| 11 | g.2572072_2572073delinsTC | CA008044 | KCNQ1 | c.482_483delinsTC (p.Trp161Phe) c.478-11363_478-11362delinsTC (n.478-11363_478-11362delinsTC) c.743_744delinsTC (p.Trp248Phe) c.362_363delinsTC (p.Trp121Phe) c.124-11363_124-11362delinsTC (n.124-11363_124-11362delinsTC) | ClinVar dbSNP |
| 11 | g.2572073G>A | CA379131007 | KCNQ1 | c.483G>A (p.Trp161Ter) c.478-11362G>A (n.478-11362G>A) c.744G>A (p.Trp248Ter) c.363G>A (p.Trp121Ter) c.124-11362G>A (n.124-11362G>A) | |
| 11 | g.2572073G>C | CA008058 | KCNQ1 | c.483G>C (p.Trp161Cys) c.478-11362G>C (n.478-11362G>C) c.744G>C (p.Trp248Cys) c.363G>C (p.Trp121Cys) c.124-11362G>C (n.124-11362G>C) | ClinVar dbSNP |
| 11 | g.2572073G= | CA1948242724 | KCNQ1 | c.483G= (p.Trp161=) c.478-11362G= (n.478-11362G=) c.744G= (p.Trp248=) c.363G= (p.Trp121=) c.124-11362G= (n.124-11362G=) | |
| 11 | g.2572073G>T | CA379131006 | KCNQ1 | c.483G>T (p.Trp161Cys) c.478-11362G>T (n.478-11362G>T) c.744G>T (p.Trp248Cys) c.363G>T (p.Trp121Cys) c.124-11362G>T (n.124-11362G>T) | |
| 11 | g.2572074_2572075dup | CA597109449 | KCNQ1 | c.484_485dup (p.Leu163GlyfsTer14) c.478-11361_478-11360dup (n.478-11361_478-11360dup) c.745_746dup (p.Leu250GlyfsTer14) c.364_365dup (p.Leu123GlyfsTer14) c.124-11361_124-11360dup (n.124-11361_124-11360dup) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2572074A>C | CA472038077 | KCNQ1 | c.484A>C (p.Arg162=) c.478-11361A>C (n.478-11361A>C) c.745A>C (p.Arg249=) c.364A>C (p.Arg122=) c.124-11361A>C (n.124-11361A>C) | |
| 11 | g.2572074A>G | CA379131008 | KCNQ1 | c.484A>G (p.Arg162Gly) c.478-11361A>G (n.478-11361A>G) c.745A>G (p.Arg249Gly) c.364A>G (p.Arg122Gly) c.124-11361A>G (n.124-11361A>G) | |
| 11 | g.2572074A>T | CA379131009 | KCNQ1 | c.484A>T (p.Arg162Trp) c.478-11361A>T (n.478-11361A>T) c.745A>T (p.Arg249Trp) c.364A>T (p.Arg122Trp) c.124-11361A>T (n.124-11361A>T) | |
| 11 | g.2572075G>A | CA216311652 | KCNQ1 | c.485G>A (p.Arg162Lys) c.478-11360G>A (n.478-11360G>A) c.746G>A (p.Arg249Lys) c.365G>A (p.Arg122Lys) c.124-11360G>A (n.124-11360G>A) | dbSNP gnomAD v4 |
| 11 | g.2572075G>C | CA379131010 | KCNQ1 | c.485G>C (p.Arg162Thr) c.478-11360G>C (n.478-11360G>C) c.746G>C (p.Arg249Thr) c.365G>C (p.Arg122Thr) c.124-11360G>C (n.124-11360G>C) | |
| 11 | g.2572075G= | CA1948242725 | KCNQ1 | c.485G= (p.Arg162=) c.478-11360G= (n.478-11360G=) c.746G= (p.Arg249=) c.365G= (p.Arg122=) c.124-11360G= (n.124-11360G=) | |
| 11 | g.2572075G>T | CA379131011 | KCNQ1 | c.485G>T (p.Arg162Met) c.478-11360G>T (n.478-11360G>T) c.746G>T (p.Arg249Met) c.365G>T (p.Arg122Met) c.124-11360G>T (n.124-11360G>T) | |
| 11 | g.2572076G>A | CA472038078 | KCNQ1 | c.486G>A (p.Arg162=) c.478-11359G>A (n.478-11359G>A) c.747G>A (p.Arg249=) c.366G>A (p.Arg122=) c.124-11359G>A (n.124-11359G>A) | |
| 11 | g.2572076G>C | CA379131012 | KCNQ1 | c.486G>C (p.Arg162Ser) c.478-11359G>C (n.478-11359G>C) c.747G>C (p.Arg249Ser) c.366G>C (p.Arg122Ser) c.124-11359G>C (n.124-11359G>C) | |
| 11 | g.2572076G= | CA1948242726 | KCNQ1 | c.486G= (p.Arg162=) c.478-11359G= (n.478-11359G=) c.747G= (p.Arg249=) c.366G= (p.Arg122=) c.124-11359G= (n.124-11359G=) | |
| 11 | g.2572076G>T | CA379131013 | KCNQ1 | c.486G>T (p.Arg162Ser) c.478-11359G>T (n.478-11359G>T) c.747G>T (p.Arg249Ser) c.366G>T (p.Arg122Ser) c.124-11359G>T (n.124-11359G>T) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.2572077C>A | CA379131014 | KCNQ1 | c.487C>A (p.Leu163Ile) c.478-11358C>A (n.478-11358C>A) c.748C>A (p.Leu250Ile) c.367C>A (p.Leu123Ile) c.124-11358C>A (n.124-11358C>A) | |
| 11 | g.2572077C>G | CA379131015 | KCNQ1 | c.487C>G (p.Leu163Val) c.478-11358C>G (n.478-11358C>G) c.748C>G (p.Leu250Val) c.367C>G (p.Leu123Val) c.124-11358C>G (n.124-11358C>G) | |
| 11 | g.2572077C>T | CA379131016 | KCNQ1 | c.487C>T (p.Leu163Phe) c.478-11358C>T (n.478-11358C>T) c.748C>T (p.Leu250Phe) c.367C>T (p.Leu123Phe) c.124-11358C>T (n.124-11358C>T) | |
| 11 | g.2572078T>A | CA008065 | KCNQ1 | c.488T>A (p.Leu163His) c.478-11357T>A (n.478-11357T>A) c.749T>A (p.Leu250His) c.368T>A (p.Leu123His) c.124-11357T>A (n.124-11357T>A) | ClinVar dbSNP |
| 11 | g.2572078T>C | CA008075 | KCNQ1 | c.488T>C (p.Leu163Pro) c.478-11357T>C (n.478-11357T>C) c.749T>C (p.Leu250Pro) c.368T>C (p.Leu123Pro) c.124-11357T>C (n.124-11357T>C) | ClinVar dbSNP |
| 11 | g.2572078T>G | CA379131017 | KCNQ1 | c.488T>G (p.Leu163Arg) c.478-11357T>G (n.478-11357T>G) c.749T>G (p.Leu250Arg) c.368T>G (p.Leu123Arg) c.124-11357T>G (n.124-11357T>G) | |
| 11 | g.2572078T= | CA1948242727 | KCNQ1 | c.488T= (p.Leu163=) c.478-11357T= (n.478-11357T=) c.749T= (p.Leu250=) c.368T= (p.Leu123=) c.124-11357T= (n.124-11357T=) | |
| 11 | g.2572079C>A | CA472038079 | KCNQ1 | c.489C>A (p.Leu163=) c.478-11356C>A (n.478-11356C>A) c.750C>A (p.Leu250=) c.369C>A (p.Leu123=) c.124-11356C>A (n.124-11356C>A) | |
| 11 | g.2572079C= | CA1948242728 | KCNQ1 | c.489C= (p.Leu163=) c.478-11356C= (n.478-11356C=) c.750C= (p.Leu250=) c.369C= (p.Leu123=) c.124-11356C= (n.124-11356C=) | |
| 11 | g.2572079C>G | CA472038080 | KCNQ1 | c.489C>G (p.Leu163=) c.478-11356C>G (n.478-11356C>G) c.750C>G (p.Leu250=) c.369C>G (p.Leu123=) c.124-11356C>G (n.124-11356C>G) | |
| 11 | g.2572079C>T | CA472038081 | KCNQ1 | c.489C>T (p.Leu163=) c.478-11356C>T (n.478-11356C>T) c.750C>T (p.Leu250=) c.369C>T (p.Leu123=) c.124-11356C>T (n.124-11356C>T) | dbSNP |
| 11 | g.2572080C>A | CA379131019 | KCNQ1 | c.490C>A (p.Leu164Met) c.478-11355C>A (n.478-11355C>A) c.751C>A (p.Leu251Met) c.370C>A (p.Leu124Met) c.124-11355C>A (n.124-11355C>A) | |
| 11 | g.2572080C>G | CA379131018 | KCNQ1 | c.490C>G (p.Leu164Val) c.478-11355C>G (n.478-11355C>G) c.751C>G (p.Leu251Val) c.370C>G (p.Leu124Val) c.124-11355C>G (n.124-11355C>G) | |
| 11 | g.2572080C>T | CA472038082 | KCNQ1 | c.490C>T (p.Leu164=) c.478-11355C>T (n.478-11355C>T) c.751C>T (p.Leu251=) c.370C>T (p.Leu124=) c.124-11355C>T (n.124-11355C>T) | gnomAD v4 |
| 11 | g.2572081T>A | CA379131020 | KCNQ1 | c.491T>A (p.Leu164Gln) c.478-11354T>A (n.478-11354T>A) c.752T>A (p.Leu251Gln) c.371T>A (p.Leu124Gln) c.124-11354T>A (n.124-11354T>A) | ClinVar dbSNP |
| 11 | g.2572081T>C | CA008083 | KCNQ1 | c.491T>C (p.Leu164Pro) c.478-11354T>C (n.478-11354T>C) c.752T>C (p.Leu251Pro) c.371T>C (p.Leu124Pro) c.124-11354T>C (n.124-11354T>C) | ClinVar dbSNP |
| 11 | g.2572081T>G | CA379131021 | KCNQ1 | c.491T>G (p.Leu164Arg) c.478-11354T>G (n.478-11354T>G) c.752T>G (p.Leu251Arg) c.371T>G (p.Leu124Arg) c.124-11354T>G (n.124-11354T>G) | |
| 11 | g.2572081T= | CA1948242729 | KCNQ1 | c.491T= (p.Leu164=) c.478-11354T= (n.478-11354T=) c.752T= (p.Leu251=) c.371T= (p.Leu124=) c.124-11354T= (n.124-11354T=) | |
| 11 | g.2572082G>A | CA472038083 | KCNQ1 | c.492G>A (p.Leu164=) c.478-11353G>A (n.478-11353G>A) c.753G>A (p.Leu251=) c.372G>A (p.Leu124=) c.124-11353G>A (n.124-11353G>A) | |
| 11 | g.2572082G>C | CA472038085 | KCNQ1 | c.492G>C (p.Leu164=) c.478-11353G>C (n.478-11353G>C) c.753G>C (p.Leu251=) c.372G>C (p.Leu124=) c.124-11353G>C (n.124-11353G>C) | gnomAD v4 |
| 11 | g.2572082G>T | CA472038084 | KCNQ1 | c.492G>T (p.Leu164=) c.478-11353G>T (n.478-11353G>T) c.753G>T (p.Leu251=) c.372G>T (p.Leu124=) c.124-11353G>T (n.124-11353G>T) | |
| 11 | g.2572083G>A | CA379131022 | KCNQ1 | c.493G>A (p.Gly165Ser) c.478-11352G>A (n.478-11352G>A) c.754G>A (p.Gly252Ser) c.373G>A (p.Gly125Ser) c.124-11352G>A (n.124-11352G>A) | ClinVar |
| 11 | g.2572083G>C | CA379131023 | KCNQ1 | c.493G>C (p.Gly165Arg) c.478-11352G>C (n.478-11352G>C) c.754G>C (p.Gly252Arg) c.373G>C (p.Gly125Arg) c.124-11352G>C (n.124-11352G>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.2572083G= | CA1948242730 | KCNQ1 | c.493G= (p.Gly165=) c.478-11352G= (n.478-11352G=) c.754G= (p.Gly252=) c.373G= (p.Gly125=) c.124-11352G= (n.124-11352G=) | |
| 11 | g.2572083G>T | CA379131025 | KCNQ1 | c.493G>T (p.Gly165Cys) c.478-11352G>T (n.478-11352G>T) c.754G>T (p.Gly252Cys) c.373G>T (p.Gly125Cys) c.124-11352G>T (n.124-11352G>T) | |
| 11 | g.2572084G>A | CA379131030 | KCNQ1 | c.494G>A (p.Gly165Asp) c.478-11351G>A (n.478-11351G>A) c.755G>A (p.Gly252Asp) c.374G>A (p.Gly125Asp) c.124-11351G>A (n.124-11351G>A) | |
| 11 | g.2572084G>C | CA379131029 | KCNQ1 | c.494G>C (p.Gly165Ala) c.478-11351G>C (n.478-11351G>C) c.755G>C (p.Gly252Ala) c.374G>C (p.Gly125Ala) c.124-11351G>C (n.124-11351G>C) | |
| 11 | g.2572084G>T | CA379131027 | KCNQ1 | c.494G>T (p.Gly165Val) c.478-11351G>T (n.478-11351G>T) c.755G>T (p.Gly252Val) c.374G>T (p.Gly125Val) c.124-11351G>T (n.124-11351G>T) | |
| 11 | g.2572085C>A | CA472038088 | KCNQ1 | c.495C>A (p.Gly165=) c.478-11350C>A (n.478-11350C>A) c.756C>A (p.Gly252=) c.375C>A (p.Gly125=) c.124-11350C>A (n.124-11350C>A) |