Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.2583483dup | CA2840305713 | KCNQ1 | c.709dup (p.Val237GlyfsTer?) c.526dup (p.Val176GlyfsTer?) c.970dup (p.Val324GlyfsTer?) c.589dup (p.Val197GlyfsTer?) c.172dup (p.Val58GlyfsTer?) | |
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) | ClinVar 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.2583488dup | CA2838887525 | KCNQ1 | c.714dup (p.Lys239GlufsTer?) c.531dup (p.Lys178GlufsTer?) c.975dup (p.Lys326GlufsTer?) c.594dup (p.Lys199GlufsTer?) c.177dup (p.Lys60GlufsTer?) | |
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) | ClinVar 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=) | ClinVar |
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 |
11 | g.2583541C>A | CA379133131 | KCNQ1 | c.767C>A (p.Pro256Gln) c.584C>A (p.Pro195Gln) c.1028C>A (p.Pro343Gln) c.647C>A (p.Pro216Gln) c.230C>A (p.Pro77Gln) | |
11 | g.2583541C= | CA1948225165 | KCNQ1 | c.767C= (p.Pro256=) c.584C= (p.Pro195=) c.1028C= (p.Pro343=) c.647C= (p.Pro216=) c.230C= (p.Pro77=) | |
11 | g.2583541C>G | CA004932 | KCNQ1 | c.767C>G (p.Pro256Arg) c.584C>G (p.Pro195Arg) c.1028C>G (p.Pro343Arg) c.647C>G (p.Pro216Arg) c.230C>G (p.Pro77Arg) | ClinVar dbSNP |
11 | g.2583541C>T | CA004942 | KCNQ1 | c.767C>T (p.Pro256Leu) c.584C>T (p.Pro195Leu) c.1028C>T (p.Pro343Leu) c.647C>T (p.Pro216Leu) c.230C>T (p.Pro77Leu) | ClinVar dbSNP COSMIC COSMIC |
11 | g.2583542_2583544dup | CA305978 | KCNQ1 | c.768_770dup (p.Ala257_Thr258insAla) c.585_587dup (p.Ala196_Thr197insAla) c.1029_1031dup (p.Ala344_Gly345insAla) c.648_650dup (p.Ala217_Gly218insAla) c.231_233dup (p.Ala78_Thr79insAla) | ClinVar dbSNP |
11 | g.2583542A= | CA1948225177 | KCNQ1 | c.768A= (p.Pro256=) c.585A= (p.Pro195=) c.1029A= (p.Pro343=) c.648A= (p.Pro216=) c.231A= (p.Pro77=) | |
11 | g.2583542A>C | CA472038458 | KCNQ1 | c.768A>C (p.Pro256=) c.585A>C (p.Pro195=) c.1029A>C (p.Pro343=) c.648A>C (p.Pro216=) c.231A>C (p.Pro77=) | |
11 | g.2583542A>G | CA472038459 | KCNQ1 | c.768A>G (p.Pro256=) c.585A>G (p.Pro195=) c.1029A>G (p.Pro343=) c.648A>G (p.Pro216=) c.231A>G (p.Pro77=) | |
11 | g.2583542A>T | CA472038460 | KCNQ1 | c.768A>T (p.Pro256=) c.585A>T (p.Pro195=) c.1029A>T (p.Pro343=) c.648A>T (p.Pro216=) c.231A>T (p.Pro77=) | dbSNP |
11 | g.2583543G>A | CA379133132 | KCNQ1 | c.769G>A (p.Ala257Thr) c.586G>A (p.Ala196Thr) c.1030G>A (p.Ala344Thr) c.649G>A (p.Ala217Thr) c.232G>A (p.Ala78Thr) | ClinVar dbSNP gnomAD v4 |
11 | g.2583543G>C | CA379133133 | KCNQ1 | c.769G>C (p.Ala257Pro) c.586G>C (p.Ala196Pro) c.1030G>C (p.Ala344Pro) c.649G>C (p.Ala217Pro) c.232G>C (p.Ala78Pro) | |
11 | g.2583543G= | CA1948225183 | KCNQ1 | c.769G= (p.Ala257=) c.586G= (p.Ala196=) c.1030G= (p.Ala344=) c.649G= (p.Ala217=) c.232G= (p.Ala78=) | |
11 | g.2583543G>T | CA379133134 | KCNQ1 | c.769G>T (p.Ala257Ser) c.586G>T (p.Ala196Ser) c.1030G>T (p.Ala344Ser) c.649G>T (p.Ala217Ser) c.232G>T (p.Ala78Ser) | |
11 | g.2583544C>A | CA004955 | KCNQ1 | c.770C>A (p.Ala257Glu) c.587C>A (p.Ala196Glu) c.1031C>A (p.Ala344Glu) c.650C>A (p.Ala217Glu) c.233C>A (p.Ala78Glu) | ClinVar dbSNP gnomAD v4 |
11 | g.2583544C= | CA1948225194 | KCNQ1 | c.770C= (p.Ala257=) c.587C= (p.Ala196=) c.1031C= (p.Ala344=) c.650C= (p.Ala217=) c.233C= (p.Ala78=) | |
11 | g.2583544C>G | CA004959 | KCNQ1 | c.770C>G (p.Ala257Gly) c.587C>G (p.Ala196Gly) c.1031C>G (p.Ala344Gly) c.650C>G (p.Ala217Gly) c.233C>G (p.Ala78Gly) | ClinVar dbSNP |
11 | g.2583544C>T | CA004967 | KCNQ1 | c.770C>T (p.Ala257Val) c.587C>T (p.Ala196Val) c.1031C>T (p.Ala344Val) c.650C>T (p.Ala217Val) c.233C>T (p.Ala78Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2583545G>A | CA005005 | KCNQ1 | c.771G>A (p.Ala257=) c.588G>A (p.Ala196=) c.1032G>A (p.Ala344=) c.651G>A (p.Ala217=) c.234G>A (p.Ala78=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2583545G>C | CA005015 | KCNQ1 | c.771G>C (p.Ala257=) c.588G>C (p.Ala196=) c.1032G>C (p.Ala344=) c.651G>C (p.Ala217=) c.234G>C (p.Ala78=) | ClinVar dbSNP |
11 | g.2583545G= | CA1948225206 | KCNQ1 | c.771G= (p.Ala257=) c.588G= (p.Ala196=) c.1032G= (p.Ala344=) c.651G= (p.Ala217=) c.234G= (p.Ala78=) | |
11 | g.2583545G>T | CA472038461 | KCNQ1 | c.771G>T (p.Ala257=) c.588G>T (p.Ala196=) c.1032G>T (p.Ala344=) c.651G>T (p.Ala217=) c.234G>T (p.Ala78=) | ClinVar dbSNP |
11 | g.2583546_2587569del | CA1139661776 | KCNQ1 | c.771+1_772-1del c.588+1_589-1del c.1032+1_1129-1del c.651+1_748-1del c.234+1_235-1del | ClinVar |
11 | g.2583546G>A | CA004984 | KCNQ1 | c.771+1G>A (n.771+1G>A) c.588+1G>A (n.588+1G>A) c.1032+1G>A (n.1032+1G>A) c.651+1G>A (n.651+1G>A) c.234+1G>A (n.234+1G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.2583546G>C | CA379133135 | KCNQ1 | c.771+1G>C (n.771+1G>C) c.588+1G>C (n.588+1G>C) c.1032+1G>C (n.1032+1G>C) c.651+1G>C (n.651+1G>C) c.234+1G>C (n.234+1G>C) | ClinVar |
11 | g.2583546G= | CA1948225219 | KCNQ1 | c.771+1G= (n.771+1G=) c.588+1G= (n.588+1G=) c.1032+1G= (n.1032+1G=) c.651+1G= (n.651+1G=) c.234+1G= (n.234+1G=) | |
11 | g.2583546G>T | CA379133136 | KCNQ1 | c.771+1G>T (n.771+1G>T) c.588+1G>T (n.588+1G>T) c.1032+1G>T (n.1032+1G>T) c.651+1G>T (n.651+1G>T) c.234+1G>T (n.234+1G>T) | ClinVar |
11 | g.2583547T>A | CA379133137 | KCNQ1 | c.771+2T>A (n.771+2T>A) c.588+2T>A (n.588+2T>A) c.1032+2T>A (n.1032+2T>A) c.651+2T>A (n.651+2T>A) c.234+2T>A (n.234+2T>A) | |
11 | g.2583547T>C | CA379133138 | KCNQ1 | c.771+2T>C (n.771+2T>C) c.588+2T>C (n.588+2T>C) c.1032+2T>C (n.1032+2T>C) c.651+2T>C (n.651+2T>C) c.234+2T>C (n.234+2T>C) | ClinVar dbSNP |
11 | g.2583547T>G | CA379133139 | KCNQ1 | c.771+2T>G (n.771+2T>G) c.588+2T>G (n.588+2T>G) c.1032+2T>G (n.1032+2T>G) c.651+2T>G (n.651+2T>G) c.234+2T>G (n.234+2T>G) | |
11 | g.2583547T= | CA1948225225 | KCNQ1 | c.771+2T= (n.771+2T=) c.588+2T= (n.588+2T=) c.1032+2T= (n.1032+2T=) c.651+2T= (n.651+2T=) c.234+2T= (n.234+2T=) | |
11 | g.2583548del | CA2612002617 | KCNQ1 | c.771+3del (n.771+3del) c.588+3del (n.588+3del) c.1032+3del (n.1032+3del) c.651+3del (n.651+3del) c.234+3del (n.234+3del) | gnomAD v4 |
11 | g.2583548A= | CA1948225227 | KCNQ1 | c.771+3A= (n.771+3A=) c.588+3A= (n.588+3A=) c.1032+3A= (n.1032+3A=) c.651+3A= (n.651+3A=) c.234+3A= (n.234+3A=) | |
11 | g.2583548A>G | CA2580082607 | KCNQ1 | c.771+3A>G (n.771+3A>G) c.588+3A>G (n.588+3A>G) c.1032+3A>G (n.1032+3A>G) c.651+3A>G (n.651+3A>G) c.234+3A>G (n.234+3A>G) | ClinVar |
11 | g.2583548A>T | CA2580082608 | KCNQ1 | c.771+3A>T (n.771+3A>T) c.588+3A>T (n.588+3A>T) c.1032+3A>T (n.1032+3A>T) c.651+3A>T (n.651+3A>T) c.234+3A>T (n.234+3A>T) | ClinVar |
11 | g.2583549G>C | CA2740093573 | KCNQ1 | c.771+4G>C (n.771+4G>C) c.588+4G>C (n.588+4G>C) c.1032+4G>C (n.1032+4G>C) c.651+4G>C (n.651+4G>C) c.234+4G>C (n.234+4G>C) | ClinVar |
11 | g.2583550dup | CA305983 | KCNQ1 | c.771+5dup (n.771+5dup) c.588+5dup (n.588+5dup) c.1032+5dup (n.1032+5dup) c.651+5dup (n.651+5dup) c.234+5dup (n.234+5dup) | ClinVar dbSNP |
11 | g.2583550G>A | CA004997 | KCNQ1 | c.771+5G>A (n.771+5G>A) c.588+5G>A (n.588+5G>A) c.1032+5G>A (n.1032+5G>A) c.651+5G>A (n.651+5G>A) c.234+5G>A (n.234+5G>A) | ClinVar dbSNP |
11 | g.2583550G>C | CA2695213190 | KCNQ1 | c.771+5G>C (n.771+5G>C) c.588+5G>C (n.588+5G>C) c.1032+5G>C (n.1032+5G>C) c.651+5G>C (n.651+5G>C) c.234+5G>C (n.234+5G>C) | |
11 | g.2583550G= | CA1948225232 | KCNQ1 | c.771+5G= (n.771+5G=) c.588+5G= (n.588+5G=) c.1032+5G= (n.1032+5G=) c.651+5G= (n.651+5G=) c.234+5G= (n.234+5G=) | |
11 | g.2583550G>T | CA915947937 | KCNQ1 | c.771+5G>T (n.771+5G>T) c.588+5G>T (n.588+5G>T) c.1032+5G>T (n.1032+5G>T) c.651+5G>T (n.651+5G>T) c.234+5G>T (n.234+5G>T) | ClinVar dbSNP |
11 | g.2583551T>C | CA2574728192 | KCNQ1 | c.771+6T>C (n.771+6T>C) c.588+6T>C (n.588+6T>C) c.1032+6T>C (n.1032+6T>C) c.651+6T>C (n.651+6T>C) c.234+6T>C (n.234+6T>C) | |
11 | g.2583551T>G | CA026822 | KCNQ1 | c.771+6T>G (n.771+6T>G) c.588+6T>G (n.588+6T>G) c.1032+6T>G (n.1032+6T>G) c.651+6T>G (n.651+6T>G) c.234+6T>G (n.234+6T>G) | dbSNP ExAC gnomAD v2 |
11 | g.2583551T= | CA1948225237 | KCNQ1 | c.771+6T= (n.771+6T=) c.588+6T= (n.588+6T=) c.1032+6T= (n.1032+6T=) c.651+6T= (n.651+6T=) c.234+6T= (n.234+6T=) | |
11 | g.2583552G>A | CA026830 | KCNQ1 | c.771+7G>A (n.771+7G>A) c.588+7G>A (n.588+7G>A) c.1032+7G>A (n.1032+7G>A) c.651+7G>A (n.651+7G>A) c.234+7G>A (n.234+7G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2583552G= | CA1948225240 | KCNQ1 | c.771+7G= (n.771+7G=) c.588+7G= (n.588+7G=) c.1032+7G= (n.1032+7G=) c.651+7G= (n.651+7G=) c.234+7G= (n.234+7G=) | |
11 | g.2583552G>T | CA2612002618 | KCNQ1 | c.771+7G>T (n.771+7G>T) c.588+7G>T (n.588+7G>T) c.1032+7G>T (n.1032+7G>T) c.651+7G>T (n.651+7G>T) c.234+7G>T (n.234+7G>T) | gnomAD v4 |
11 | g.2583553C>A | CA2612002620 | KCNQ1 | c.771+8C>A (n.771+8C>A) c.588+8C>A (n.588+8C>A) c.1032+8C>A (n.1032+8C>A) c.651+8C>A (n.651+8C>A) c.234+8C>A (n.234+8C>A) | gnomAD v4 |
11 | g.2583553C>T | CA2573146067 | KCNQ1 | c.771+8C>T (n.771+8C>T) c.588+8C>T (n.588+8C>T) c.1032+8C>T (n.1032+8C>T) c.651+8C>T (n.651+8C>T) c.234+8C>T (n.234+8C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.2583554C>A | CA2612002622 | KCNQ1 | c.771+9C>A (n.771+9C>A) c.588+9C>A (n.588+9C>A) c.1032+9C>A (n.1032+9C>A) c.651+9C>A (n.651+9C>A) c.234+9C>A (n.234+9C>A) | gnomAD v4 |
11 | g.2583554C>T | CA2612002621 | KCNQ1 | c.771+9C>T (n.771+9C>T) c.588+9C>T (n.588+9C>T) c.1032+9C>T (n.1032+9C>T) c.651+9C>T (n.651+9C>T) c.234+9C>T (n.234+9C>T) | gnomAD v4 |
11 | g.2583555C>A | CA2612002623 | KCNQ1 | c.771+10C>A (n.771+10C>A) c.588+10C>A (n.588+10C>A) c.1032+10C>A (n.1032+10C>A) c.651+10C>A (n.651+10C>A) c.234+10C>A (n.234+10C>A) | gnomAD v4 |
11 | g.2583555C= | CA1948225244 | KCNQ1 | c.771+10C= (n.771+10C=) c.588+10C= (n.588+10C=) c.1032+10C= (n.1032+10C=) c.651+10C= (n.651+10C=) c.234+10C= (n.234+10C=) | |
11 | g.2583555C>T | CA1948225245 | KCNQ1 | c.771+10C>T (n.771+10C>T) c.588+10C>T (n.588+10C>T) c.1032+10C>T (n.1032+10C>T) c.651+10C>T (n.651+10C>T) c.234+10C>T (n.234+10C>T) | dbSNP gnomAD v4 |
11 | g.2583556C>A | CA2612002625 | KCNQ1 | c.771+11C>A (n.771+11C>A) c.588+11C>A (n.588+11C>A) c.1032+11C>A (n.1032+11C>A) c.651+11C>A (n.651+11C>A) c.234+11C>A (n.234+11C>A) | gnomAD v4 |
11 | g.2583556C= | CA1948225256 | KCNQ1 | c.771+11C= (n.771+11C=) c.588+11C= (n.588+11C=) c.1032+11C= (n.1032+11C=) c.651+11C= (n.651+11C=) c.234+11C= (n.234+11C=) | |
11 | g.2583556C>G | CA216327537 | KCNQ1 | c.771+11C>G (n.771+11C>G) c.588+11C>G (n.588+11C>G) c.1032+11C>G (n.1032+11C>G) c.651+11C>G (n.651+11C>G) c.234+11C>G (n.234+11C>G) | dbSNP |
11 | g.2583556C>T | CA004977 | KCNQ1 | c.771+11C>T (n.771+11C>T) c.588+11C>T (n.588+11C>T) c.1032+11C>T (n.1032+11C>T) c.651+11C>T (n.651+11C>T) c.234+11C>T (n.234+11C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2583557G>A | CA216327552 | KCNQ1 | c.771+12G>A (n.771+12G>A) c.588+12G>A (n.588+12G>A) c.1032+12G>A (n.1032+12G>A) c.651+12G>A (n.651+12G>A) c.234+12G>A (n.234+12G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2583557G>C | CA597110464 | KCNQ1 | c.771+12G>C (n.771+12G>C) c.588+12G>C (n.588+12G>C) c.1032+12G>C (n.1032+12G>C) c.651+12G>C (n.651+12G>C) c.234+12G>C (n.234+12G>C) | dbSNP gnomAD v2 |
11 | g.2583557G= | CA1948225261 | KCNQ1 | c.771+12G= (n.771+12G=) c.588+12G= (n.588+12G=) c.1032+12G= (n.1032+12G=) c.651+12G= (n.651+12G=) c.234+12G= (n.234+12G=) | |
11 | g.2583557G>T | CA934462749 | KCNQ1 | c.771+12G>T (n.771+12G>T) c.588+12G>T (n.588+12G>T) c.1032+12G>T (n.1032+12G>T) c.651+12G>T (n.651+12G>T) c.234+12G>T (n.234+12G>T) | dbSNP gnomAD v4 |
11 | g.2583559G>A | CA674983453 | KCNQ1 | c.771+14G>A (n.771+14G>A) c.588+14G>A (n.588+14G>A) c.1032+14G>A (n.1032+14G>A) c.651+14G>A (n.651+14G>A) c.234+14G>A (n.234+14G>A) | dbSNP gnomAD v4 |
11 | g.2583559G= | CA1948225266 | KCNQ1 | c.771+14G= (n.771+14G=) c.588+14G= (n.588+14G=) c.1032+14G= (n.1032+14G=) c.651+14G= (n.651+14G=) c.234+14G= (n.234+14G=) | |
11 | g.2583559G>T | CA2840305714 | KCNQ1 | c.771+14G>T (n.771+14G>T) c.588+14G>T (n.588+14G>T) c.1032+14G>T (n.1032+14G>T) c.651+14G>T (n.651+14G>T) c.234+14G>T (n.234+14G>T) | |
11 | g.2583561dup | CA2838524939 | KCNQ1 | c.771+16dup (n.771+16dup) c.588+16dup (n.588+16dup) c.1032+16dup (n.1032+16dup) c.651+16dup (n.651+16dup) c.234+16dup (n.234+16dup) | |
11 | g.2583560G>A | CA026740 | KCNQ1 | c.771+15G>A (n.771+15G>A) c.588+15G>A (n.588+15G>A) c.1032+15G>A (n.1032+15G>A) c.651+15G>A (n.651+15G>A) c.234+15G>A (n.234+15G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2583560G>C | CA1948225276 | KCNQ1 | c.771+15G>C (n.771+15G>C) c.588+15G>C (n.588+15G>C) c.1032+15G>C (n.1032+15G>C) c.651+15G>C (n.651+15G>C) c.234+15G>C (n.234+15G>C) | dbSNP |
11 | g.2583560G= | CA1948225271 | KCNQ1 | c.771+15G= (n.771+15G=) c.588+15G= (n.588+15G=) c.1032+15G= (n.1032+15G=) c.651+15G= (n.651+15G=) c.234+15G= (n.234+15G=) | |
11 | g.2583560G>T | CA2612002627 | KCNQ1 | c.771+15G>T (n.771+15G>T) c.588+15G>T (n.588+15G>T) c.1032+15G>T (n.1032+15G>T) c.651+15G>T (n.651+15G>T) c.234+15G>T (n.234+15G>T) | gnomAD v4 |
11 | g.2583561G>A | CA597110465 | KCNQ1 | c.771+16G>A (n.771+16G>A) c.588+16G>A (n.588+16G>A) c.1032+16G>A (n.1032+16G>A) c.651+16G>A (n.651+16G>A) c.234+16G>A (n.234+16G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2583561G>C | CA026749 | KCNQ1 | c.771+16G>C (n.771+16G>C) c.588+16G>C (n.588+16G>C) c.1032+16G>C (n.1032+16G>C) c.651+16G>C (n.651+16G>C) c.234+16G>C (n.234+16G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.2583561G= | CA1948225283 | KCNQ1 | c.771+16G= (n.771+16G=) c.588+16G= (n.588+16G=) c.1032+16G= (n.1032+16G=) c.651+16G= (n.651+16G=) c.234+16G= (n.234+16G=) | |
11 | g.2583562T>C | CA2612002629 | KCNQ1 | c.771+17T>C (n.771+17T>C) c.588+17T>C (n.588+17T>C) c.1032+17T>C (n.1032+17T>C) c.651+17T>C (n.651+17T>C) c.234+17T>C (n.234+17T>C) | gnomAD v4 |
11 | g.2583563G>A | CA2612002630 | KCNQ1 | c.771+18G>A (n.771+18G>A) c.588+18G>A (n.588+18G>A) c.1032+18G>A (n.1032+18G>A) c.651+18G>A (n.651+18G>A) c.234+18G>A (n.234+18G>A) | gnomAD v4 |
11 | g.2583563_2583571del | CA2549842725 | KCNQ1 | c.771+18_771+26del (n.771+18_771+26del) c.588+18_588+26del (n.588+18_588+26del) c.1032+18_1032+26del (n.1032+18_1032+26del) c.651+18_651+26del (n.651+18_651+26del) c.234+18_234+26del (n.234+18_234+26del) | |
11 | g.2583564C>A | CA2612002631 | KCNQ1 | c.771+19C>A (n.771+19C>A) c.588+19C>A (n.588+19C>A) c.1032+19C>A (n.1032+19C>A) c.651+19C>A (n.651+19C>A) c.234+19C>A (n.234+19C>A) | gnomAD v4 |
11 | g.2583564C= | CA1948225286 | KCNQ1 | c.771+19C= (n.771+19C=) c.588+19C= (n.588+19C=) c.1032+19C= (n.1032+19C=) c.651+19C= (n.651+19C=) c.234+19C= (n.234+19C=) | |
11 | g.2583564C>T | CA216327600 | KCNQ1 | c.771+19C>T (n.771+19C>T) c.588+19C>T (n.588+19C>T) c.1032+19C>T (n.1032+19C>T) c.651+19C>T (n.651+19C>T) c.234+19C>T (n.234+19C>T) | ClinVar dbSNP gnomAD v4 |
11 | g.2583565G>A | CA026756 | KCNQ1 | c.771+20G>A (n.771+20G>A) c.588+20G>A (n.588+20G>A) c.1032+20G>A (n.1032+20G>A) c.651+20G>A (n.651+20G>A) c.234+20G>A (n.234+20G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
11 | g.2583565G= | CA1948225290 | KCNQ1 | c.771+20G= (n.771+20G=) c.588+20G= (n.588+20G=) c.1032+20G= (n.1032+20G=) c.651+20G= (n.651+20G=) c.234+20G= (n.234+20G=) | |
11 | g.2583569del | CA2612002634 | KCNQ1 | c.771+24del (n.771+24del) c.588+24del (n.588+24del) c.1032+24del (n.1032+24del) c.651+24del (n.651+24del) c.234+24del (n.234+24del) | gnomAD v4 |
11 | g.2583567T>C | CA2790193779 | KCNQ1 | c.771+22T>C (n.771+22T>C) c.588+22T>C (n.588+22T>C) c.1032+22T>C (n.1032+22T>C) c.651+22T>C (n.651+22T>C) c.234+22T>C (n.234+22T>C) |