Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.2572839G>TCA645569426KCNQ1c.520-7G>T (n.520-7G>T)
c.478-10596G>T (n.478-10596G>T)
c.781-7G>T (n.781-7G>T)
c.400-7G>T (n.400-7G>T)
c.124-10596G>T (n.124-10596G>T)
 COSMIC COSMIC
11g.2572840G=CA1948243162KCNQ1c.520-6G= (n.520-6G=)
c.478-10595G= (n.478-10595G=)
c.781-6G= (n.781-6G=)
c.400-6G= (n.400-6G=)
c.124-10595G= (n.124-10595G=)
11g.2572840G>TCA10638251KCNQ1c.520-6G>T (n.520-6G>T)
c.478-10595G>T (n.478-10595G>T)
c.781-6G>T (n.781-6G>T)
c.400-6G>T (n.400-6G>T)
c.124-10595G>T (n.124-10595G>T)
 ClinVar dbSNP
11g.2572841C>ACA2612004122KCNQ1c.520-5C>A (n.520-5C>A)
c.478-10594C>A (n.478-10594C>A)
c.781-5C>A (n.781-5C>A)
c.400-5C>A (n.400-5C>A)
c.124-10594C>A (n.124-10594C>A)
 gnomAD v4
11g.2572844A>CCA379131225KCNQ1c.520-2A>C (n.520-2A>C)
c.478-10591A>C (n.478-10591A>C)
c.781-2A>C (n.781-2A>C)
c.400-2A>C (n.400-2A>C)
c.124-10591A>C (n.124-10591A>C)
11g.2572844A>GCA379131227KCNQ1c.520-2A>G (n.520-2A>G)
c.478-10591A>G (n.478-10591A>G)
c.781-2A>G (n.781-2A>G)
c.400-2A>G (n.400-2A>G)
c.124-10591A>G (n.124-10591A>G)
11g.2572844A>TCA379131230KCNQ1c.520-2A>T (n.520-2A>T)
c.478-10591A>T (n.478-10591A>T)
c.781-2A>T (n.781-2A>T)
c.400-2A>T (n.400-2A>T)
c.124-10591A>T (n.124-10591A>T)
11g.2572845G>ACA379131234KCNQ1c.520-1G>A (n.520-1G>A)
c.478-10590G>A (n.478-10590G>A)
c.781-1G>A (n.781-1G>A)
c.400-1G>A (n.400-1G>A)
c.124-10590G>A (n.124-10590G>A)
11g.2572845G>CCA379131236KCNQ1c.520-1G>C (n.520-1G>C)
c.478-10590G>C (n.478-10590G>C)
c.781-1G>C (n.781-1G>C)
c.400-1G>C (n.400-1G>C)
c.124-10590G>C (n.124-10590G>C)
11g.2572845G>TCA379131233KCNQ1c.520-1G>T (n.520-1G>T)
c.478-10590G>T (n.478-10590G>T)
c.781-1G>T (n.781-1G>T)
c.400-1G>T (n.400-1G>T)
c.124-10590G>T (n.124-10590G>T)
11g.2572846G>ACA008215KCNQ1c.520G>A (p.Glu174Lys)
c.478-10589G>A (n.478-10589G>A)
c.781G>A (p.Glu261Lys)
c.400G>A (p.Glu134Lys)
c.124-10589G>A (n.124-10589G>A)
 ClinVar dbSNP
11g.2572846G>CCA008221KCNQ1c.520G>C (p.Glu174Gln)
c.478-10589G>C (n.478-10589G>C)
c.781G>C (p.Glu261Gln)
c.400G>C (p.Glu134Gln)
c.124-10589G>C (n.124-10589G>C)
 ClinVar dbSNP
11g.2572846G=CA1948243164KCNQ1c.520G= (p.Glu174=)
c.478-10589G= (n.478-10589G=)
c.781G= (p.Glu261=)
c.400G= (p.Glu134=)
c.124-10589G= (n.124-10589G=)
11g.2572846G>TCA379131241KCNQ1c.520G>T (p.Glu174Ter)
c.478-10589G>T (n.478-10589G>T)
c.781G>T (p.Glu261Ter)
c.400G>T (p.Glu134Ter)
c.124-10589G>T (n.124-10589G>T)
 ClinVar dbSNP
11g.2572846_2572847delinsGACA1948243163KCNQ1c.520_521delinsGA (p.Glu174=)
c.478-10589_478-10588delinsGA (n.478-10589_478-10588delinsGA)
c.781_782delinsGA (p.Glu261=)
c.400_401delinsGA (p.Glu134=)
c.124-10589_124-10588delinsGA (n.124-10589_124-10588delinsGA)
11g.2572846_2572847delinsTCCA2695213153KCNQ1c.520_521delinsTC (p.Glu174Ser)
c.478-10589_478-10588delinsTC (n.478-10589_478-10588delinsTC)
c.781_782delinsTC (p.Glu261Ser)
c.400_401delinsTC (p.Glu134Ser)
c.124-10589_124-10588delinsTC (n.124-10589_124-10588delinsTC)
11g.2572846_2572847delinsTTCA16613282KCNQ1c.520_521delinsTT (p.Glu174Leu)
c.478-10589_478-10588delinsTT (n.478-10589_478-10588delinsTT)
c.781_782delinsTT (p.Glu261Leu)
c.400_401delinsTT (p.Glu134Leu)
c.124-10589_124-10588delinsTT (n.124-10589_124-10588delinsTT)
 ClinVar dbSNP
11g.2572847A>CCA379131243KCNQ1c.521A>C (p.Glu174Ala)
c.478-10588A>C (n.478-10588A>C)
c.782A>C (p.Glu261Ala)
c.401A>C (p.Glu134Ala)
c.124-10588A>C (n.124-10588A>C)
11g.2572847A>GCA379131246KCNQ1c.521A>G (p.Glu174Gly)
c.478-10588A>G (n.478-10588A>G)
c.782A>G (p.Glu261Gly)
c.401A>G (p.Glu134Gly)
c.124-10588A>G (n.124-10588A>G)
11g.2572847A>TCA379131247KCNQ1c.521A>T (p.Glu174Val)
c.478-10588A>T (n.478-10588A>T)
c.782A>T (p.Glu261Val)
c.401A>T (p.Glu134Val)
c.124-10588A>T (n.124-10588A>T)
11g.2572848G>ACA472038116KCNQ1c.522G>A (p.Glu174=)
c.478-10587G>A (n.478-10587G>A)
c.783G>A (p.Glu261=)
c.402G>A (p.Glu134=)
c.124-10587G>A (n.124-10587G>A)
11g.2572848G>CCA008229KCNQ1c.522G>C (p.Glu174Asp)
c.478-10587G>C (n.478-10587G>C)
c.783G>C (p.Glu261Asp)
c.402G>C (p.Glu134Asp)
c.124-10587G>C (n.124-10587G>C)
 ClinVar dbSNP
11g.2572848G=CA1948243165KCNQ1c.522G= (p.Glu174=)
c.478-10587G= (n.478-10587G=)
c.783G= (p.Glu261=)
c.402G= (p.Glu134=)
c.124-10587G= (n.124-10587G=)
11g.2572848G>TCA379131251KCNQ1c.522G>T (p.Glu174Asp)
c.478-10587G>T (n.478-10587G>T)
c.783G>T (p.Glu261Asp)
c.402G>T (p.Glu134Asp)
c.124-10587G>T (n.124-10587G>T)
11g.2572849C>ACA379131254KCNQ1c.523C>A (p.Leu175Met)
c.478-10586C>A (n.478-10586C>A)
c.784C>A (p.Leu262Met)
c.403C>A (p.Leu135Met)
c.124-10586C>A (n.124-10586C>A)
11g.2572849C=CA1948243166KCNQ1c.523C= (p.Leu175=)
c.478-10586C= (n.478-10586C=)
c.784C= (p.Leu262=)
c.403C= (p.Leu135=)
c.124-10586C= (n.124-10586C=)
11g.2572849C>GCA008237KCNQ1c.523C>G (p.Leu175Val)
c.478-10586C>G (n.478-10586C>G)
c.784C>G (p.Leu262Val)
c.403C>G (p.Leu135Val)
c.124-10586C>G (n.124-10586C>G)
 ClinVar dbSNP
11g.2572849C>TCA472038117KCNQ1c.523C>T (p.Leu175=)
c.478-10586C>T (n.478-10586C>T)
c.784C>T (p.Leu262=)
c.403C>T (p.Leu135=)
c.124-10586C>T (n.124-10586C>T)
11g.2572850T>ACA379131257KCNQ1c.524T>A (p.Leu175Gln)
c.478-10585T>A (n.478-10585T>A)
c.785T>A (p.Leu262Gln)
c.404T>A (p.Leu135Gln)
c.124-10585T>A (n.124-10585T>A)
 ClinVar
11g.2572850T>CCA379131259KCNQ1c.524T>C (p.Leu175Pro)
c.478-10585T>C (n.478-10585T>C)
c.785T>C (p.Leu262Pro)
c.404T>C (p.Leu135Pro)
c.124-10585T>C (n.124-10585T>C)
 ClinVar dbSNP
11g.2572850T>GCA379131260KCNQ1c.524T>G (p.Leu175Arg)
c.478-10585T>G (n.478-10585T>G)
c.785T>G (p.Leu262Arg)
c.404T>G (p.Leu135Arg)
c.124-10585T>G (n.124-10585T>G)
 ClinVar dbSNP
11g.2572850T=CA1948243167KCNQ1c.524T= (p.Leu175=)
c.478-10585T= (n.478-10585T=)
c.785T= (p.Leu262=)
c.404T= (p.Leu135=)
c.124-10585T= (n.124-10585T=)
11g.2572851G>ACA472038121KCNQ1c.525G>A (p.Leu175=)
c.478-10584G>A (n.478-10584G>A)
c.786G>A (p.Leu262=)
c.405G>A (p.Leu135=)
c.124-10584G>A (n.124-10584G>A)
 gnomAD v4
11g.2572851G>CCA472038118KCNQ1c.525G>C (p.Leu175=)
c.478-10584G>C (n.478-10584G>C)
c.786G>C (p.Leu262=)
c.405G>C (p.Leu135=)
c.124-10584G>C (n.124-10584G>C)
11g.2572851G>TCA472038119KCNQ1c.525G>T (p.Leu175=)
c.478-10584G>T (n.478-10584G>T)
c.786G>T (p.Leu262=)
c.405G>T (p.Leu135=)
c.124-10584G>T (n.124-10584G>T)
11g.2572852A>CCA379131266KCNQ1c.526A>C (p.Ile176Leu)
c.478-10583A>C (n.478-10583A>C)
c.787A>C (p.Ile263Leu)
c.406A>C (p.Ile136Leu)
c.124-10583A>C (n.124-10583A>C)
11g.2572852A>GCA379131265KCNQ1c.526A>G (p.Ile176Val)
c.478-10583A>G (n.478-10583A>G)
c.787A>G (p.Ile263Val)
c.406A>G (p.Ile136Val)
c.124-10583A>G (n.124-10583A>G)
 ClinVar
11g.2572852A>TCA379131263KCNQ1c.526A>T (p.Ile176Leu)
c.478-10583A>T (n.478-10583A>T)
c.787A>T (p.Ile263Leu)
c.406A>T (p.Ile136Leu)
c.124-10583A>T (n.124-10583A>T)
11g.2572852_2572853delinsATCA1948243168KCNQ1c.526_527delinsAT (p.Ile176=)
c.478-10583_478-10582delinsAT (n.478-10583_478-10582delinsAT)
c.787_788delinsAT (p.Ile263=)
c.406_407delinsAT (p.Ile136=)
c.124-10583_124-10582delinsAT (n.124-10583_124-10582delinsAT)
11g.2572853delCA918805527KCNQ1c.527del (p.Ile176LysfsTer26)
c.478-10582del (n.478-10582del)
c.788del (p.Ile263LysfsTer26)
c.407del (p.Ile136LysfsTer26)
c.124-10582del (n.124-10582del)
c.527del (p.Ile176LysfsTer?)
 ClinVar dbSNP
11g.2572853T>ACA379131268KCNQ1c.527T>A (p.Ile176Lys)
c.478-10582T>A (n.478-10582T>A)
c.788T>A (p.Ile263Lys)
c.407T>A (p.Ile136Lys)
c.124-10582T>A (n.124-10582T>A)
 ClinVar
11g.2572853T>CCA379131270KCNQ1c.527T>C (p.Ile176Thr)
c.478-10582T>C (n.478-10582T>C)
c.788T>C (p.Ile263Thr)
c.407T>C (p.Ile136Thr)
c.124-10582T>C (n.124-10582T>C)
11g.2572853T>GCA379131272KCNQ1c.527T>G (p.Ile176Arg)
c.478-10582T>G (n.478-10582T>G)
c.788T>G (p.Ile263Arg)
c.407T>G (p.Ile136Arg)
c.124-10582T>G (n.124-10582T>G)
11g.2572854A>CCA472038123KCNQ1c.528A>C (p.Ile176=)
c.478-10581A>C (n.478-10581A>C)
c.789A>C (p.Ile263=)
c.408A>C (p.Ile136=)
c.124-10581A>C (n.124-10581A>C)
11g.2572854A>GCA379131274KCNQ1c.528A>G (p.Ile176Met)
c.478-10581A>G (n.478-10581A>G)
c.789A>G (p.Ile263Met)
c.408A>G (p.Ile136Met)
c.124-10581A>G (n.124-10581A>G)
11g.2572854A>TCA472038124KCNQ1c.528A>T (p.Ile176=)
c.478-10581A>T (n.478-10581A>T)
c.789A>T (p.Ile263=)
c.408A>T (p.Ile136=)
c.124-10581A>T (n.124-10581A>T)
11g.2572855A>CCA379131277KCNQ1c.529A>C (p.Thr177Pro)
c.478-10580A>C (n.478-10580A>C)
c.790A>C (p.Thr264Pro)
c.409A>C (p.Thr137Pro)
c.124-10580A>C (n.124-10580A>C)
11g.2572855A>GCA379131279KCNQ1c.529A>G (p.Thr177Ala)
c.478-10580A>G (n.478-10580A>G)
c.790A>G (p.Thr264Ala)
c.409A>G (p.Thr137Ala)
c.124-10580A>G (n.124-10580A>G)
11g.2572855A>TCA379131280KCNQ1c.529A>T (p.Thr177Ser)
c.478-10580A>T (n.478-10580A>T)
c.790A>T (p.Thr264Ser)
c.409A>T (p.Thr137Ser)
c.124-10580A>T (n.124-10580A>T)
11g.2572855_2572856delCA2697558900KCNQ1c.529_530del (p.Thr177HisfsTer20)
c.478-10580_478-10579del (n.478-10580_478-10579del)
c.790_791del (p.Thr264HisfsTer20)
c.409_410del (p.Thr137HisfsTer20)
c.124-10580_124-10579del (n.124-10580_124-10579del)
c.529_530del (p.Thr177HisfsTer?)
 ClinVar
11g.2572856C>ACA379131283KCNQ1c.530C>A (p.Thr177Asn)
c.478-10579C>A (n.478-10579C>A)
c.791C>A (p.Thr264Asn)
c.410C>A (p.Thr137Asn)
c.124-10579C>A (n.124-10579C>A)
11g.2572856C=CA1948243169KCNQ1c.530C= (p.Thr177=)
c.478-10579C= (n.478-10579C=)
c.791C= (p.Thr264=)
c.410C= (p.Thr137=)
c.124-10579C= (n.124-10579C=)
11g.2572856C>GCA040719KCNQ1c.530C>G (p.Thr177Ser)
c.478-10579C>G (n.478-10579C>G)
c.791C>G (p.Thr264Ser)
c.410C>G (p.Thr137Ser)
c.124-10579C>G (n.124-10579C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572856C>TCA379131285KCNQ1c.530C>T (p.Thr177Ile)
c.478-10579C>T (n.478-10579C>T)
c.791C>T (p.Thr264Ile)
c.410C>T (p.Thr137Ile)
c.124-10579C>T (n.124-10579C>T)
11g.2572857C>ACA472038125KCNQ1c.531C>A (p.Thr177=)
c.478-10578C>A (n.478-10578C>A)
c.792C>A (p.Thr264=)
c.411C>A (p.Thr137=)
c.124-10578C>A (n.124-10578C>A)
11g.2572857C>GCA472038126KCNQ1c.531C>G (p.Thr177=)
c.478-10578C>G (n.478-10578C>G)
c.792C>G (p.Thr264=)
c.411C>G (p.Thr137=)
c.124-10578C>G (n.124-10578C>G)
 gnomAD v4
11g.2572857C>TCA472038127KCNQ1c.531C>T (p.Thr177=)
c.478-10578C>T (n.478-10578C>T)
c.792C>T (p.Thr264=)
c.411C>T (p.Thr137=)
c.124-10578C>T (n.124-10578C>T)
 gnomAD v4
11g.2572858A>CCA379131288KCNQ1c.532A>C (p.Thr178Pro)
c.478-10577A>C (n.478-10577A>C)
c.793A>C (p.Thr265Pro)
c.412A>C (p.Thr138Pro)
c.124-10577A>C (n.124-10577A>C)
11g.2572858A>GCA379131289KCNQ1c.532A>G (p.Thr178Ala)
c.478-10577A>G (n.478-10577A>G)
c.793A>G (p.Thr265Ala)
c.412A>G (p.Thr138Ala)
c.124-10577A>G (n.124-10577A>G)
 gnomAD v4
11g.2572858A>TCA379131291KCNQ1c.532A>T (p.Thr178Ser)
c.478-10577A>T (n.478-10577A>T)
c.793A>T (p.Thr265Ser)
c.412A>T (p.Thr138Ser)
c.124-10577A>T (n.124-10577A>T)
11g.2572858_2572859delinsACCA1948243170KCNQ1c.532_533delinsAC (p.Thr178=)
c.478-10577_478-10576delinsAC (n.478-10577_478-10576delinsAC)
c.793_794delinsAC (p.Thr265=)
c.412_413delinsAC (p.Thr138=)
c.124-10577_124-10576delinsAC (n.124-10577_124-10576delinsAC)
11g.2572859C>ACA379131296KCNQ1c.533C>A (p.Thr178Asn)
c.478-10576C>A (n.478-10576C>A)
c.794C>A (p.Thr265Asn)
c.413C>A (p.Thr138Asn)
c.124-10576C>A (n.124-10576C>A)
 ClinVar dbSNP
11g.2572859C=CA1948243171KCNQ1c.533C= (p.Thr178=)
c.478-10576C= (n.478-10576C=)
c.794C= (p.Thr265=)
c.413C= (p.Thr138=)
c.124-10576C= (n.124-10576C=)
11g.2572859C>GCA379131295KCNQ1c.533C>G (p.Thr178Ser)
c.478-10576C>G (n.478-10576C>G)
c.794C>G (p.Thr265Ser)
c.413C>G (p.Thr138Ser)
c.124-10576C>G (n.124-10576C>G)
11g.2572859C>TCA008246KCNQ1c.533C>T (p.Thr178Ile)
c.478-10576C>T (n.478-10576C>T)
c.794C>T (p.Thr265Ile)
c.413C>T (p.Thr138Ile)
c.124-10576C>T (n.124-10576C>T)
 ClinVar dbSNP
11g.2572861delCA008255KCNQ1c.535del (p.Leu179CysfsTer23)
c.478-10574del (n.478-10574del)
c.796del (p.Leu266CysfsTer23)
c.415del (p.Leu139CysfsTer23)
c.124-10574del (n.124-10574del)
c.535del (p.Leu179CysfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2572860C>ACA472038128KCNQ1c.534C>A (p.Thr178=)
c.478-10575C>A (n.478-10575C>A)
c.795C>A (p.Thr265=)
c.414C>A (p.Thr138=)
c.124-10575C>A (n.124-10575C>A)
11g.2572860C=CA1948243172KCNQ1c.534C= (p.Thr178=)
c.478-10575C= (n.478-10575C=)
c.795C= (p.Thr265=)
c.414C= (p.Thr138=)
c.124-10575C= (n.124-10575C=)
11g.2572860C>GCA472038129KCNQ1c.534C>G (p.Thr178=)
c.478-10575C>G (n.478-10575C>G)
c.795C>G (p.Thr265=)
c.414C>G (p.Thr138=)
c.124-10575C>G (n.124-10575C>G)
 dbSNP
11g.2572860C>TCA472038130KCNQ1c.534C>T (p.Thr178=)
c.478-10575C>T (n.478-10575C>T)
c.795C>T (p.Thr265=)
c.414C>T (p.Thr138=)
c.124-10575C>T (n.124-10575C>T)
 dbSNP
11g.2572861C>ACA379131299KCNQ1c.535C>A (p.Leu179Met)
c.478-10574C>A (n.478-10574C>A)
c.796C>A (p.Leu266Met)
c.415C>A (p.Leu139Met)
c.124-10574C>A (n.124-10574C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2572861C=CA1948243173KCNQ1c.535C= (p.Leu179=)
c.478-10574C= (n.478-10574C=)
c.796C= (p.Leu266=)
c.415C= (p.Leu139=)
c.124-10574C= (n.124-10574C=)
11g.2572861C>GCA379131301KCNQ1c.535C>G (p.Leu179Val)
c.478-10574C>G (n.478-10574C>G)
c.796C>G (p.Leu266Val)
c.415C>G (p.Leu139Val)
c.124-10574C>G (n.124-10574C>G)
11g.2572861C>TCA472038131KCNQ1c.535C>T (p.Leu179=)
c.478-10574C>T (n.478-10574C>T)
c.796C>T (p.Leu266=)
c.415C>T (p.Leu139=)
c.124-10574C>T (n.124-10574C>T)
 gnomAD v4
11g.2572862T>ACA379131303KCNQ1c.536T>A (p.Leu179Gln)
c.478-10573T>A (n.478-10573T>A)
c.797T>A (p.Leu266Gln)
c.416T>A (p.Leu139Gln)
c.124-10573T>A (n.124-10573T>A)
 ClinVar
11g.2572862T>CCA008262KCNQ1c.536T>C (p.Leu179Pro)
c.478-10573T>C (n.478-10573T>C)
c.797T>C (p.Leu266Pro)
c.416T>C (p.Leu139Pro)
c.124-10573T>C (n.124-10573T>C)
 ClinVar dbSNP gnomAD v4
11g.2572862T>GCA16606299KCNQ1c.536T>G (p.Leu179Arg)
c.478-10573T>G (n.478-10573T>G)
c.797T>G (p.Leu266Arg)
c.416T>G (p.Leu139Arg)
c.124-10573T>G (n.124-10573T>G)
 ClinVar dbSNP
11g.2572862T=CA1948243174KCNQ1c.536T= (p.Leu179=)
c.478-10573T= (n.478-10573T=)
c.797T= (p.Leu266=)
c.416T= (p.Leu139=)
c.124-10573T= (n.124-10573T=)
11g.2572863G>ACA472038133KCNQ1c.537G>A (p.Leu179=)
c.478-10572G>A (n.478-10572G>A)
c.798G>A (p.Leu266=)
c.417G>A (p.Leu139=)
c.124-10572G>A (n.124-10572G>A)
11g.2572863G>CCA472038134KCNQ1c.537G>C (p.Leu179=)
c.478-10572G>C (n.478-10572G>C)
c.798G>C (p.Leu266=)
c.417G>C (p.Leu139=)
c.124-10572G>C (n.124-10572G>C)
11g.2572863G>TCA472038135KCNQ1c.537G>T (p.Leu179=)
c.478-10572G>T (n.478-10572G>T)
c.798G>T (p.Leu266=)
c.417G>T (p.Leu139=)
c.124-10572G>T (n.124-10572G>T)
11g.2572864T>ACA379131308KCNQ1c.538T>A (p.Tyr180Asn)
c.478-10571T>A (n.478-10571T>A)
c.799T>A (p.Tyr267Asn)
c.418T>A (p.Tyr140Asn)
c.124-10571T>A (n.124-10571T>A)
11g.2572864T>CCA379131309KCNQ1c.538T>C (p.Tyr180His)
c.478-10571T>C (n.478-10571T>C)
c.799T>C (p.Tyr267His)
c.418T>C (p.Tyr140His)
c.124-10571T>C (n.124-10571T>C)
11g.2572864T>GCA379131311KCNQ1c.538T>G (p.Tyr180Asp)
c.478-10571T>G (n.478-10571T>G)
c.799T>G (p.Tyr267Asp)
c.418T>G (p.Tyr140Asp)
c.124-10571T>G (n.124-10571T>G)
11g.2572865A=CA1948243175KCNQ1c.539A= (p.Tyr180=)
c.478-10570A= (n.478-10570A=)
c.800A= (p.Tyr267=)
c.419A= (p.Tyr140=)
c.124-10570A= (n.124-10570A=)
11g.2572865A>CCA379131313KCNQ1c.539A>C (p.Tyr180Ser)
c.478-10570A>C (n.478-10570A>C)
c.800A>C (p.Tyr267Ser)
c.419A>C (p.Tyr140Ser)
c.124-10570A>C (n.124-10570A>C)
11g.2572865A>GCA379131315KCNQ1c.539A>G (p.Tyr180Cys)
c.478-10570A>G (n.478-10570A>G)
c.800A>G (p.Tyr267Cys)
c.419A>G (p.Tyr140Cys)
c.124-10570A>G (n.124-10570A>G)
 dbSNP gnomAD v4
11g.2572865A>TCA10587722KCNQ1c.539A>T (p.Tyr180Phe)
c.478-10570A>T (n.478-10570A>T)
c.800A>T (p.Tyr267Phe)
c.419A>T (p.Tyr140Phe)
c.124-10570A>T (n.124-10570A>T)
 ClinVar dbSNP gnomAD v4
11g.2572866C>ACA379131318KCNQ1c.540C>A (p.Tyr180Ter)
c.478-10569C>A (n.478-10569C>A)
c.801C>A (p.Tyr267Ter)
c.420C>A (p.Tyr140Ter)
c.124-10569C>A (n.124-10569C>A)
11g.2572866C=CA1948243176KCNQ1c.540C= (p.Tyr180=)
c.478-10569C= (n.478-10569C=)
c.801C= (p.Tyr267=)
c.420C= (p.Tyr140=)
c.124-10569C= (n.124-10569C=)
11g.2572866C>GCA379131319KCNQ1c.540C>G (p.Tyr180Ter)
c.478-10569C>G (n.478-10569C>G)
c.801C>G (p.Tyr267Ter)
c.420C>G (p.Tyr140Ter)
c.124-10569C>G (n.124-10569C>G)
11g.2572866C>TCA472038138KCNQ1c.540C>T (p.Tyr180=)
c.478-10569C>T (n.478-10569C>T)
c.801C>T (p.Tyr267=)
c.420C>T (p.Tyr140=)
c.124-10569C>T (n.124-10569C>T)
 dbSNP gnomAD v4
11g.2572867A=CA1948243177KCNQ1c.541A= (p.Ile181=)
c.478-10568A= (n.478-10568A=)
c.802A= (p.Ile268=)
c.421A= (p.Ile141=)
c.124-10568A= (n.124-10568A=)
11g.2572867A>CCA379131324KCNQ1c.541A>C (p.Ile181Leu)
c.478-10568A>C (n.478-10568A>C)
c.802A>C (p.Ile268Leu)
c.421A>C (p.Ile141Leu)
c.124-10568A>C (n.124-10568A>C)
11g.2572867A>GCA040733KCNQ1c.541A>G (p.Ile181Val)
c.478-10568A>G (n.478-10568A>G)
c.802A>G (p.Ile268Val)
c.421A>G (p.Ile141Val)
c.124-10568A>G (n.124-10568A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2572867A>TCA379131321KCNQ1c.541A>T (p.Ile181Phe)
c.478-10568A>T (n.478-10568A>T)
c.802A>T (p.Ile268Phe)
c.421A>T (p.Ile141Phe)
c.124-10568A>T (n.124-10568A>T)
11g.2572868delCA2695213154KCNQ1c.542del (p.Ile181ThrfsTer21)
c.478-10567del (n.478-10567del)
c.803del (p.Ile268ThrfsTer21)
c.422del (p.Ile141ThrfsTer21)
c.124-10567del (n.124-10567del)
c.542del (p.Ile181ThrfsTer?)
11g.2572868T>ACA379131326KCNQ1c.542T>A (p.Ile181Asn)
c.478-10567T>A (n.478-10567T>A)
c.803T>A (p.Ile268Asn)
c.422T>A (p.Ile141Asn)
c.124-10567T>A (n.124-10567T>A)
11g.2572868T>CCA379131328KCNQ1c.542T>C (p.Ile181Thr)
c.478-10567T>C (n.478-10567T>C)
c.803T>C (p.Ile268Thr)
c.422T>C (p.Ile141Thr)
c.124-10567T>C (n.124-10567T>C)
11g.2572868T>GCA008270KCNQ1c.542T>G (p.Ile181Ser)
c.478-10567T>G (n.478-10567T>G)
c.803T>G (p.Ile268Ser)
c.422T>G (p.Ile141Ser)
c.124-10567T>G (n.124-10567T>G)
 ClinVar dbSNP
11g.2572868T=CA1948243178KCNQ1c.542T= (p.Ile181=)
c.478-10567T= (n.478-10567T=)
c.803T= (p.Ile268=)
c.422T= (p.Ile141=)
c.124-10567T= (n.124-10567T=)
11g.2572870_2572884delCA2695213155KCNQ1c.544_558del (p.Gly182_Leu186del)
c.478-10565_478-10551del (n.478-10565_478-10551del)
c.805_819del (p.Gly269_Leu273del)
c.424_438del (p.Gly142_Leu146del)
c.124-10565_124-10551del (n.124-10565_124-10551del)
11g.2572869C>ACA472038139KCNQ1c.543C>A (p.Ile181=)
c.478-10566C>A (n.478-10566C>A)
c.804C>A (p.Ile268=)
c.423C>A (p.Ile141=)
c.124-10566C>A (n.124-10566C>A)
 ClinVar dbSNP gnomAD v4
11g.2572869C=CA1948243179KCNQ1c.543C= (p.Ile181=)
c.478-10566C= (n.478-10566C=)
c.804C= (p.Ile268=)
c.423C= (p.Ile141=)
c.124-10566C= (n.124-10566C=)
11g.2572869C>GCA379131331KCNQ1c.543C>G (p.Ile181Met)
c.478-10566C>G (n.478-10566C>G)
c.804C>G (p.Ile268Met)
c.423C>G (p.Ile141Met)
c.124-10566C>G (n.124-10566C>G)
11g.2572869C>TCA040745KCNQ1c.543C>T (p.Ile181=)
c.478-10566C>T (n.478-10566C>T)
c.804C>T (p.Ile268=)
c.423C>T (p.Ile141=)
c.124-10566C>T (n.124-10566C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572870G>ACA008278KCNQ1c.544G>A (p.Gly182Ser)
c.478-10565G>A (n.478-10565G>A)
c.805G>A (p.Gly269Ser)
c.424G>A (p.Gly142Ser)
c.124-10565G>A (n.124-10565G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572870G>CCA008284KCNQ1c.544G>C (p.Gly182Arg)
c.478-10565G>C (n.478-10565G>C)
c.805G>C (p.Gly269Arg)
c.424G>C (p.Gly142Arg)
c.124-10565G>C (n.124-10565G>C)
 ClinVar dbSNP
11g.2572870G=CA1948243180KCNQ1c.544G= (p.Gly182=)
c.478-10565G= (n.478-10565G=)
c.805G= (p.Gly269=)
c.424G= (p.Gly142=)
c.124-10565G= (n.124-10565G=)
11g.2572870G>TCA379131337KCNQ1c.544G>T (p.Gly182Cys)
c.478-10565G>T (n.478-10565G>T)
c.805G>T (p.Gly269Cys)
c.424G>T (p.Gly142Cys)
c.124-10565G>T (n.124-10565G>T)
11g.2572871G>ACA008292KCNQ1c.545G>A (p.Gly182Asp)
c.478-10564G>A (n.478-10564G>A)
c.806G>A (p.Gly269Asp)
c.425G>A (p.Gly142Asp)
c.124-10564G>A (n.124-10564G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2572871G>CCA379131341KCNQ1c.545G>C (p.Gly182Ala)
c.478-10564G>C (n.478-10564G>C)
c.806G>C (p.Gly269Ala)
c.425G>C (p.Gly142Ala)
c.124-10564G>C (n.124-10564G>C)
11g.2572871G=CA1948243181KCNQ1c.545G= (p.Gly182=)
c.478-10564G= (n.478-10564G=)
c.806G= (p.Gly269=)
c.425G= (p.Gly142=)
c.124-10564G= (n.124-10564G=)
11g.2572871G>TCA008303KCNQ1c.545G>T (p.Gly182Val)
c.478-10564G>T (n.478-10564G>T)
c.806G>T (p.Gly269Val)
c.425G>T (p.Gly142Val)
c.124-10564G>T (n.124-10564G>T)
 ClinVar dbSNP
11g.2572872C>ACA472038142KCNQ1c.546C>A (p.Gly182=)
c.478-10563C>A (n.478-10563C>A)
c.807C>A (p.Gly269=)
c.426C>A (p.Gly142=)
c.124-10563C>A (n.124-10563C>A)
11g.2572872C=CA1948243182KCNQ1c.546C= (p.Gly182=)
c.478-10563C= (n.478-10563C=)
c.807C= (p.Gly269=)
c.426C= (p.Gly142=)
c.124-10563C= (n.124-10563C=)
11g.2572872C>GCA472038140KCNQ1c.546C>G (p.Gly182=)
c.478-10563C>G (n.478-10563C>G)
c.807C>G (p.Gly269=)
c.426C>G (p.Gly142=)
c.124-10563C>G (n.124-10563C>G)
11g.2572872C>TCA472038141KCNQ1c.546C>T (p.Gly182=)
c.478-10563C>T (n.478-10563C>T)
c.807C>T (p.Gly269=)
c.426C>T (p.Gly142=)
c.124-10563C>T (n.124-10563C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.2572874_2572877delCA2695213156KCNQ1c.548_551del (p.Phe183TrpfsTer18)
c.478-10561_478-10558del (n.478-10561_478-10558del)
c.809_812del (p.Phe270TrpfsTer18)
c.428_431del (p.Phe143TrpfsTer18)
c.124-10561_124-10558del (n.124-10561_124-10558del)
c.548_551del (p.Phe183TrpfsTer?)
11g.2572873T>ACA379131345KCNQ1c.547T>A (p.Phe183Ile)
c.478-10562T>A (n.478-10562T>A)
c.808T>A (p.Phe270Ile)
c.427T>A (p.Phe143Ile)
c.124-10562T>A (n.124-10562T>A)
11g.2572873T>CCA379131347KCNQ1c.547T>C (p.Phe183Leu)
c.478-10562T>C (n.478-10562T>C)
c.808T>C (p.Phe270Leu)
c.427T>C (p.Phe143Leu)
c.124-10562T>C (n.124-10562T>C)
11g.2572873T>GCA379131349KCNQ1c.547T>G (p.Phe183Val)
c.478-10562T>G (n.478-10562T>G)
c.808T>G (p.Phe270Val)
c.427T>G (p.Phe143Val)
c.124-10562T>G (n.124-10562T>G)
11g.2572874T>ACA379131354KCNQ1c.548T>A (p.Phe183Tyr)
c.478-10561T>A (n.478-10561T>A)
c.809T>A (p.Phe270Tyr)
c.428T>A (p.Phe143Tyr)
c.124-10561T>A (n.124-10561T>A)
11g.2572874T>CCA040791KCNQ1c.548T>C (p.Phe183Ser)
c.478-10561T>C (n.478-10561T>C)
c.809T>C (p.Phe270Ser)
c.428T>C (p.Phe143Ser)
c.124-10561T>C (n.124-10561T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2572874T>GCA379131351KCNQ1c.548T>G (p.Phe183Cys)
c.478-10561T>G (n.478-10561T>G)
c.809T>G (p.Phe270Cys)
c.428T>G (p.Phe143Cys)
c.124-10561T>G (n.124-10561T>G)
11g.2572874T=CA1948243183KCNQ1c.548T= (p.Phe183=)
c.478-10561T= (n.478-10561T=)
c.809T= (p.Phe270=)
c.428T= (p.Phe143=)
c.124-10561T= (n.124-10561T=)
11g.2572874_2572880delinsTCCTGGGCA1948243184KCNQ1c.548_554delinsTCCTGGG (p.Phe183=)
c.478-10561_478-10555delinsTCCTGGG (n.478-10561_478-10555delinsTCCTGGG)
c.809_815delinsTCCTGGG (p.Phe270=)
c.428_434delinsTCCTGGG (p.Phe143=)
c.124-10561_124-10555delinsTCCTGGG (n.124-10561_124-10555delinsTCCTGGG)
11g.2572875C>ACA379131356KCNQ1c.549C>A (p.Phe183Leu)
c.478-10560C>A (n.478-10560C>A)
c.810C>A (p.Phe270Leu)
c.429C>A (p.Phe143Leu)
c.124-10560C>A (n.124-10560C>A)
11g.2572875C>GCA379131358KCNQ1c.549C>G (p.Phe183Leu)
c.478-10560C>G (n.478-10560C>G)
c.810C>G (p.Phe270Leu)
c.429C>G (p.Phe143Leu)
c.124-10560C>G (n.124-10560C>G)
11g.2572875C>TCA472038143KCNQ1c.549C>T (p.Phe183=)
c.478-10560C>T (n.478-10560C>T)
c.810C>T (p.Phe270=)
c.429C>T (p.Phe143=)
c.124-10560C>T (n.124-10560C>T)
 COSMIC COSMIC
11g.2572878_2572883delCA916079942KCNQ1c.552_557del (p.Gly185_Leu186del)
c.478-10557_478-10552del (n.478-10557_478-10552del)
c.813_818del (p.Gly272_Leu273del)
c.432_437del (p.Gly145_Leu146del)
c.124-10557_124-10552del (n.124-10557_124-10552del)
 ClinVar dbSNP
11g.2572876C>ACA379131360KCNQ1c.550C>A (p.Leu184Met)
c.478-10559C>A (n.478-10559C>A)
c.811C>A (p.Leu271Met)
c.430C>A (p.Leu144Met)
c.124-10559C>A (n.124-10559C>A)
11g.2572876C=CA1948243185KCNQ1c.550C= (p.Leu184=)
c.478-10559C= (n.478-10559C=)
c.811C= (p.Leu271=)
c.430C= (p.Leu144=)
c.124-10559C= (n.124-10559C=)
11g.2572876C>GCA379131362KCNQ1c.550C>G (p.Leu184Val)
c.478-10559C>G (n.478-10559C>G)
c.811C>G (p.Leu271Val)
c.430C>G (p.Leu144Val)
c.124-10559C>G (n.124-10559C>G)
11g.2572876C>TCA008310KCNQ1c.550C>T (p.Leu184=)
c.478-10559C>T (n.478-10559C>T)
c.811C>T (p.Leu271=)
c.430C>T (p.Leu144=)
c.124-10559C>T (n.124-10559C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2572877T>ACA379131370KCNQ1c.551T>A (p.Leu184Gln)
c.478-10558T>A (n.478-10558T>A)
c.812T>A (p.Leu271Gln)
c.431T>A (p.Leu144Gln)
c.124-10558T>A (n.124-10558T>A)
11g.2572877T>CCA379131368KCNQ1c.551T>C (p.Leu184Pro)
c.478-10558T>C (n.478-10558T>C)
c.812T>C (p.Leu271Pro)
c.431T>C (p.Leu144Pro)
c.124-10558T>C (n.124-10558T>C)
11g.2572877T>GCA379131366KCNQ1c.551T>G (p.Leu184Arg)
c.478-10558T>G (n.478-10558T>G)
c.812T>G (p.Leu271Arg)
c.431T>G (p.Leu144Arg)
c.124-10558T>G (n.124-10558T>G)
11g.2572878G>ACA472038144KCNQ1c.552G>A (p.Leu184=)
c.478-10557G>A (n.478-10557G>A)
c.813G>A (p.Leu271=)
c.432G>A (p.Leu144=)
c.124-10557G>A (n.124-10557G>A)
 gnomAD v4
11g.2572878G>CCA472038145KCNQ1c.552G>C (p.Leu184=)
c.478-10557G>C (n.478-10557G>C)
c.813G>C (p.Leu271=)
c.432G>C (p.Leu144=)
c.124-10557G>C (n.124-10557G>C)
11g.2572878G>TCA472038146KCNQ1c.552G>T (p.Leu184=)
c.478-10557G>T (n.478-10557G>T)
c.813G>T (p.Leu271=)
c.432G>T (p.Leu144=)
c.124-10557G>T (n.124-10557G>T)
11g.2572879G>ACA040822KCNQ1c.553G>A (p.Gly185Ser)
c.478-10556G>A (n.478-10556G>A)
c.814G>A (p.Gly272Ser)
c.433G>A (p.Gly145Ser)
c.124-10556G>A (n.124-10556G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572879G>CCA379131373KCNQ1c.553G>C (p.Gly185Arg)
c.478-10556G>C (n.478-10556G>C)
c.814G>C (p.Gly272Arg)
c.433G>C (p.Gly145Arg)
c.124-10556G>C (n.124-10556G>C)
11g.2572879G=CA1948243186KCNQ1c.553G= (p.Gly185=)
c.478-10556G= (n.478-10556G=)
c.814G= (p.Gly272=)
c.433G= (p.Gly145=)
c.124-10556G= (n.124-10556G=)
11g.2572879G>TCA379131374KCNQ1c.553G>T (p.Gly185Cys)
c.478-10556G>T (n.478-10556G>T)
c.814G>T (p.Gly272Cys)
c.433G>T (p.Gly145Cys)
c.124-10556G>T (n.124-10556G>T)
11g.2572880G>ACA008316KCNQ1c.554G>A (p.Gly185Asp)
c.478-10555G>A (n.478-10555G>A)
c.815G>A (p.Gly272Asp)
c.434G>A (p.Gly145Asp)
c.124-10555G>A (n.124-10555G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2572880G>CCA379131377KCNQ1c.554G>C (p.Gly185Ala)
c.478-10555G>C (n.478-10555G>C)
c.815G>C (p.Gly272Ala)
c.434G>C (p.Gly145Ala)
c.124-10555G>C (n.124-10555G>C)
11g.2572880G=CA1948243187KCNQ1c.554G= (p.Gly185=)
c.478-10555G= (n.478-10555G=)
c.815G= (p.Gly272=)
c.434G= (p.Gly145=)
c.124-10555G= (n.124-10555G=)
11g.2572880G>TCA008323KCNQ1c.554G>T (p.Gly185Val)
c.478-10555G>T (n.478-10555G>T)
c.815G>T (p.Gly272Val)
c.434G>T (p.Gly145Val)
c.124-10555G>T (n.124-10555G>T)
 ClinVar dbSNP gnomAD v4
11g.2572881C>ACA472038147KCNQ1c.555C>A (p.Gly185=)
c.478-10554C>A (n.478-10554C>A)
c.816C>A (p.Gly272=)
c.435C>A (p.Gly145=)
c.124-10554C>A (n.124-10554C>A)
11g.2572881C>GCA472038148KCNQ1c.555C>G (p.Gly185=)
c.478-10554C>G (n.478-10554C>G)
c.816C>G (p.Gly272=)
c.435C>G (p.Gly145=)
c.124-10554C>G (n.124-10554C>G)
11g.2572881C>TCA472038149KCNQ1c.555C>T (p.Gly185=)
c.478-10554C>T (n.478-10554C>T)
c.816C>T (p.Gly272=)
c.435C>T (p.Gly145=)
c.124-10554C>T (n.124-10554C>T)
11g.2572885_2572895delCA2695213157KCNQ1c.559_569del (p.Ile187ValfsTer7)
c.478-10550_478-10540del (n.478-10550_478-10540del)
c.820_830del (p.Ile274ValfsTer7)
c.439_449del (p.Ile147ValfsTer7)
c.124-10550_124-10540del (n.124-10550_124-10540del)
c.559_569del (p.Ile187ValfsTer?)
11g.2572882C>ACA379131383KCNQ1c.556C>A (p.Leu186Ile)
c.478-10553C>A (n.478-10553C>A)
c.817C>A (p.Leu273Ile)
c.436C>A (p.Leu146Ile)
c.124-10553C>A (n.124-10553C>A)
 ClinVar
11g.2572882C=CA1948243188KCNQ1c.556C= (p.Leu186=)
c.478-10553C= (n.478-10553C=)
c.817C= (p.Leu273=)
c.436C= (p.Leu146=)
c.124-10553C= (n.124-10553C=)
11g.2572882C>GCA379131380KCNQ1c.556C>G (p.Leu186Val)
c.478-10553C>G (n.478-10553C>G)
c.817C>G (p.Leu273Val)
c.436C>G (p.Leu146Val)
c.124-10553C>G (n.124-10553C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2572882C>TCA008331KCNQ1c.556C>T (p.Leu186Phe)
c.478-10553C>T (n.478-10553C>T)
c.817C>T (p.Leu273Phe)
c.436C>T (p.Leu146Phe)
c.124-10553C>T (n.124-10553C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2572883T>ACA379131385KCNQ1c.557T>A (p.Leu186His)
c.478-10552T>A (n.478-10552T>A)
c.818T>A (p.Leu273His)
c.437T>A (p.Leu146His)
c.124-10552T>A (n.124-10552T>A)
11g.2572883T>CCA16613286KCNQ1c.557T>C (p.Leu186Pro)
c.478-10552T>C (n.478-10552T>C)
c.818T>C (p.Leu273Pro)
c.437T>C (p.Leu146Pro)
c.124-10552T>C (n.124-10552T>C)
 ClinVar dbSNP
11g.2572883T>GCA008339KCNQ1c.557T>G (p.Leu186Arg)
c.478-10552T>G (n.478-10552T>G)
c.818T>G (p.Leu273Arg)
c.437T>G (p.Leu146Arg)
c.124-10552T>G (n.124-10552T>G)
 ClinVar dbSNP
11g.2572883T=CA1948243189KCNQ1c.557T= (p.Leu186=)
c.478-10552T= (n.478-10552T=)
c.818T= (p.Leu273=)
c.437T= (p.Leu146=)
c.124-10552T= (n.124-10552T=)
11g.2572884C>ACA472038152KCNQ1c.558C>A (p.Leu186=)
c.478-10551C>A (n.478-10551C>A)
c.819C>A (p.Leu273=)
c.438C>A (p.Leu146=)
c.124-10551C>A (n.124-10551C>A)
11g.2572884C>GCA472038150KCNQ1c.558C>G (p.Leu186=)
c.478-10551C>G (n.478-10551C>G)
c.819C>G (p.Leu273=)
c.438C>G (p.Leu146=)
c.124-10551C>G (n.124-10551C>G)
11g.2572884C>TCA472038151KCNQ1c.558C>T (p.Leu186=)
c.478-10551C>T (n.478-10551C>T)
c.819C>T (p.Leu273=)
c.438C>T (p.Leu146=)
c.124-10551C>T (n.124-10551C>T)
 COSMIC COSMIC
11g.2572885A=CA1948243191KCNQ1c.559A= (p.Ile187=)
c.478-10550A= (n.478-10550A=)
c.820A= (p.Ile274=)
c.439A= (p.Ile147=)
c.124-10550A= (n.124-10550A=)
11g.2572885A>CCA379131389KCNQ1c.559A>C (p.Ile187Leu)
c.478-10550A>C (n.478-10550A>C)
c.820A>C (p.Ile274Leu)
c.439A>C (p.Ile147Leu)
c.124-10550A>C (n.124-10550A>C)
11g.2572885A>GCA008353KCNQ1c.559A>G (p.Ile187Val)
c.478-10550A>G (n.478-10550A>G)
c.820A>G (p.Ile274Val)
c.439A>G (p.Ile147Val)
c.124-10550A>G (n.124-10550A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572885A>TCA379131391KCNQ1c.559A>T (p.Ile187Phe)
c.478-10550A>T (n.478-10550A>T)
c.820A>T (p.Ile274Phe)
c.439A>T (p.Ile147Phe)
c.124-10550A>T (n.124-10550A>T)
11g.2572885_2572888delinsATCTCA1948243190KCNQ1c.559_562delinsATCT (p.Ile187=)
c.478-10550_478-10547delinsATCT (n.478-10550_478-10547delinsATCT)
c.820_823delinsATCT (p.Ile274=)
c.439_442delinsATCT (p.Ile147=)
c.124-10550_124-10547delinsATCT (n.124-10550_124-10547delinsATCT)
11g.2572886T>ACA379131392KCNQ1c.560T>A (p.Ile187Asn)
c.478-10549T>A (n.478-10549T>A)
c.821T>A (p.Ile274Asn)
c.440T>A (p.Ile147Asn)
c.124-10549T>A (n.124-10549T>A)
 ClinVar
11g.2572886T>CCA379131394KCNQ1c.560T>C (p.Ile187Thr)
c.478-10549T>C (n.478-10549T>C)
c.821T>C (p.Ile274Thr)
c.440T>C (p.Ile147Thr)
c.124-10549T>C (n.124-10549T>C)
11g.2572886T>GCA379131396KCNQ1c.560T>G (p.Ile187Ser)
c.478-10549T>G (n.478-10549T>G)
c.821T>G (p.Ile274Ser)
c.440T>G (p.Ile147Ser)
c.124-10549T>G (n.124-10549T>G)
11g.2572889_2572891delCA008360KCNQ1c.563_565del (p.Phe188del)
c.478-10546_478-10544del (n.478-10546_478-10544del)
c.824_826del (p.Phe275del)
c.443_445del (p.Phe148del)
c.124-10546_124-10544del (n.124-10546_124-10544del)
 ClinVar dbSNP
11g.2572887C>ACA472038153KCNQ1c.561C>A (p.Ile187=)
c.478-10548C>A (n.478-10548C>A)
c.822C>A (p.Ile274=)
c.441C>A (p.Ile147=)
c.124-10548C>A (n.124-10548C>A)
11g.2572887C>GCA379131398KCNQ1c.561C>G (p.Ile187Met)
c.478-10548C>G (n.478-10548C>G)
c.822C>G (p.Ile274Met)
c.441C>G (p.Ile147Met)
c.124-10548C>G (n.124-10548C>G)
 gnomAD v4
11g.2572887C>TCA472038154KCNQ1c.561C>T (p.Ile187=)
c.478-10548C>T (n.478-10548C>T)
c.822C>T (p.Ile274=)
c.441C>T (p.Ile147=)
c.124-10548C>T (n.124-10548C>T)
11g.2572888T>ACA379131401KCNQ1c.562T>A (p.Phe188Ile)
c.478-10547T>A (n.478-10547T>A)
c.823T>A (p.Phe275Ile)
c.442T>A (p.Phe148Ile)
c.124-10547T>A (n.124-10547T>A)
11g.2572888T>CCA379131403KCNQ1c.562T>C (p.Phe188Leu)
c.478-10547T>C (n.478-10547T>C)
c.823T>C (p.Phe275Leu)
c.442T>C (p.Phe148Leu)
c.124-10547T>C (n.124-10547T>C)
11g.2572888T>GCA379131405KCNQ1c.562T>G (p.Phe188Val)
c.478-10547T>G (n.478-10547T>G)
c.823T>G (p.Phe275Val)
c.442T>G (p.Phe148Val)
c.124-10547T>G (n.124-10547T>G)
11g.2572889T>ACA379131407KCNQ1c.563T>A (p.Phe188Tyr)
c.478-10546T>A (n.478-10546T>A)
c.824T>A (p.Phe275Tyr)
c.443T>A (p.Phe148Tyr)
c.124-10546T>A (n.124-10546T>A)
11g.2572889T>CCA008374KCNQ1c.563T>C (p.Phe188Ser)
c.478-10546T>C (n.478-10546T>C)
c.824T>C (p.Phe275Ser)
c.443T>C (p.Phe148Ser)
c.124-10546T>C (n.124-10546T>C)
 ClinVar dbSNP
11g.2572889T>GCA379131411KCNQ1c.563T>G (p.Phe188Cys)
c.478-10546T>G (n.478-10546T>G)
c.824T>G (p.Phe275Cys)
c.443T>G (p.Phe148Cys)
c.124-10546T>G (n.124-10546T>G)
11g.2572889T=CA1948243192KCNQ1c.563T= (p.Phe188=)
c.478-10546T= (n.478-10546T=)
c.824T= (p.Phe275=)
c.443T= (p.Phe148=)
c.124-10546T= (n.124-10546T=)
11g.2572889_2572892delinsTCTCCA1948243193KCNQ1c.563_566delinsTCTC (p.Phe188=)
c.478-10546_478-10543delinsTCTC (n.478-10546_478-10543delinsTCTC)
c.824_827delinsTCTC (p.Phe275=)
c.443_446delinsTCTC (p.Phe148=)
c.124-10546_124-10543delinsTCTC (n.124-10546_124-10543delinsTCTC)
11g.2572890C>ACA379131412KCNQ1c.564C>A (p.Phe188Leu)
c.478-10545C>A (n.478-10545C>A)
c.825C>A (p.Phe275Leu)
c.444C>A (p.Phe148Leu)
c.124-10545C>A (n.124-10545C>A)
11g.2572890C>GCA379131415KCNQ1c.564C>G (p.Phe188Leu)
c.478-10545C>G (n.478-10545C>G)
c.825C>G (p.Phe275Leu)
c.444C>G (p.Phe148Leu)
c.124-10545C>G (n.124-10545C>G)
 ClinVar
11g.2572890C>TCA472038155KCNQ1c.564C>T (p.Phe188=)
c.478-10545C>T (n.478-10545C>T)
c.825C>T (p.Phe275=)
c.444C>T (p.Phe148=)
c.124-10545C>T (n.124-10545C>T)
11g.2572890_2572891delinsCTCA1948243194KCNQ1c.564_565delinsCT (p.Phe188=)
c.478-10545_478-10544delinsCT (n.478-10545_478-10544delinsCT)
c.825_826delinsCT (p.Phe275=)
c.444_445delinsCT (p.Phe148=)
c.124-10545_124-10544delinsCT (n.124-10545_124-10544delinsCT)
11g.2572893_2572895delCA008383KCNQ1c.567_569del (p.Ser190del)
c.478-10542_478-10540del (n.478-10542_478-10540del)
c.828_830del (p.Ser277del)
c.447_449del (p.Ser150del)
c.124-10542_124-10540del (n.124-10542_124-10540del)
 ClinVar dbSNP
11g.2572891delCA008398KCNQ1c.565del (p.Ser189ProfsTer13)
c.478-10544del (n.478-10544del)
c.826del (p.Ser276ProfsTer13)
c.445del (p.Ser149ProfsTer13)
c.124-10544del (n.124-10544del)
c.565del (p.Ser189ProfsTer?)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2572891T>ACA379131419KCNQ1c.565T>A (p.Ser189Thr)
c.478-10544T>A (n.478-10544T>A)
c.826T>A (p.Ser276Thr)
c.445T>A (p.Ser149Thr)
c.124-10544T>A (n.124-10544T>A)
11g.2572891T>CCA379131420KCNQ1c.565T>C (p.Ser189Pro)
c.478-10544T>C (n.478-10544T>C)
c.826T>C (p.Ser276Pro)
c.445T>C (p.Ser149Pro)
c.124-10544T>C (n.124-10544T>C)
11g.2572891T>GCA379131422KCNQ1c.565T>G (p.Ser189Ala)
c.478-10544T>G (n.478-10544T>G)
c.826T>G (p.Ser276Ala)
c.445T>G (p.Ser149Ala)
c.124-10544T>G (n.124-10544T>G)
11g.2572892C>ACA379131424KCNQ1c.566C>A (p.Ser189Tyr)
c.478-10543C>A (n.478-10543C>A)
c.827C>A (p.Ser276Tyr)
c.446C>A (p.Ser149Tyr)
c.124-10543C>A (n.124-10543C>A)
11g.2572892C=CA1948243195KCNQ1c.566C= (p.Ser189=)
c.478-10543C= (n.478-10543C=)
c.827C= (p.Ser276=)
c.446C= (p.Ser149=)
c.124-10543C= (n.124-10543C=)
11g.2572892C>GCA379131427KCNQ1c.566C>G (p.Ser189Cys)
c.478-10543C>G (n.478-10543C>G)
c.827C>G (p.Ser276Cys)
c.446C>G (p.Ser149Cys)
c.124-10543C>G (n.124-10543C>G)
11g.2572892C>TCA008405KCNQ1c.566C>T (p.Ser189Phe)
c.478-10543C>T (n.478-10543C>T)
c.827C>T (p.Ser276Phe)
c.446C>T (p.Ser149Phe)
c.124-10543C>T (n.124-10543C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2572893C>ACA472038156KCNQ1c.567C>A (p.Ser189=)
c.478-10542C>A (n.478-10542C>A)
c.828C>A (p.Ser276=)
c.447C>A (p.Ser149=)
c.124-10542C>A (n.124-10542C>A)
11g.2572893C=CA1948243196KCNQ1c.567C= (p.Ser189=)
c.478-10542C= (n.478-10542C=)
c.828C= (p.Ser276=)
c.447C= (p.Ser149=)
c.124-10542C= (n.124-10542C=)
11g.2572893C>GCA472038157KCNQ1c.567C>G (p.Ser189=)
c.478-10542C>G (n.478-10542C>G)
c.828C>G (p.Ser276=)
c.447C>G (p.Ser149=)
c.124-10542C>G (n.124-10542C>G)
11g.2572893C>TCA472038158KCNQ1c.567C>T (p.Ser189=)
c.478-10542C>T (n.478-10542C>T)
c.828C>T (p.Ser276=)
c.447C>T (p.Ser149=)
c.124-10542C>T (n.124-10542C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2572894T>ACA379131429KCNQ1c.568T>A (p.Ser190Thr)
c.478-10541T>A (n.478-10541T>A)
c.829T>A (p.Ser277Thr)
c.448T>A (p.Ser150Thr)
c.124-10541T>A (n.124-10541T>A)
11g.2572894T>CCA008421KCNQ1c.568T>C (p.Ser190Pro)
c.478-10541T>C (n.478-10541T>C)
c.829T>C (p.Ser277Pro)
c.448T>C (p.Ser150Pro)
c.124-10541T>C (n.124-10541T>C)
 ClinVar dbSNP
11g.2572894T>GCA379131432KCNQ1c.568T>G (p.Ser190Ala)
c.478-10541T>G (n.478-10541T>G)
c.829T>G (p.Ser277Ala)
c.448T>G (p.Ser150Ala)
c.124-10541T>G (n.124-10541T>G)
11g.2572894T=CA1948243197KCNQ1c.568T= (p.Ser190=)
c.478-10541T= (n.478-10541T=)
c.829T= (p.Ser277=)
c.448T= (p.Ser150=)
c.124-10541T= (n.124-10541T=)
11g.2572895_2572897delCA2695213158KCNQ1c.569_571del (p.Ser190del)
c.478-10540_478-10538del (n.478-10540_478-10538del)
c.830_832del (p.Ser277del)
c.449_451del (p.Ser150del)
c.124-10540_124-10538del (n.124-10540_124-10538del)
11g.2572895C>ACA379131437KCNQ1c.569C>A (p.Ser190Ter)
c.478-10540C>A (n.478-10540C>A)
c.830C>A (p.Ser277Ter)
c.449C>A (p.Ser150Ter)
c.124-10540C>A (n.124-10540C>A)
11g.2572895C=CA1948243198KCNQ1c.569C= (p.Ser190=)
c.478-10540C= (n.478-10540C=)
c.830C= (p.Ser277=)
c.449C= (p.Ser150=)
c.124-10540C= (n.124-10540C=)
11g.2572895C>GCA008428KCNQ1c.569C>G (p.Ser190Trp)
c.478-10540C>G (n.478-10540C>G)
c.830C>G (p.Ser277Trp)
c.449C>G (p.Ser150Trp)
c.124-10540C>G (n.124-10540C>G)
 ClinVar dbSNP
11g.2572895C>TCA008437KCNQ1c.569C>T (p.Ser190Leu)
c.478-10540C>T (n.478-10540C>T)
c.830C>T (p.Ser277Leu)
c.449C>T (p.Ser150Leu)
c.124-10540C>T (n.124-10540C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2572896G>ACA040883KCNQ1c.570G>A (p.Ser190=)
c.478-10539G>A (n.478-10539G>A)
c.831G>A (p.Ser277=)
c.450G>A (p.Ser150=)
c.124-10539G>A (n.124-10539G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2572896G>CCA040895KCNQ1c.570G>C (p.Ser190=)
c.478-10539G>C (n.478-10539G>C)
c.831G>C (p.Ser277=)
c.450G>C (p.Ser150=)
c.124-10539G>C (n.124-10539G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
11g.2572896G=CA1948243199KCNQ1c.570G= (p.Ser190=)
c.478-10539G= (n.478-10539G=)
c.831G= (p.Ser277=)
c.450G= (p.Ser150=)
c.124-10539G= (n.124-10539G=)
11g.2572896G>TCA472038159KCNQ1c.570G>T (p.Ser190=)
c.478-10539G>T (n.478-10539G>T)
c.831G>T (p.Ser277=)
c.450G>T (p.Ser150=)
c.124-10539G>T (n.124-10539G>T)
11g.2572897T>ACA379131442KCNQ1c.571T>A (p.Tyr191Asn)
c.478-10538T>A (n.478-10538T>A)
c.832T>A (p.Tyr278Asn)
c.451T>A (p.Tyr151Asn)
c.124-10538T>A (n.124-10538T>A)
11g.2572897T>CCA008446KCNQ1c.571T>C (p.Tyr191His)
c.478-10538T>C (n.478-10538T>C)
c.832T>C (p.Tyr278His)
c.451T>C (p.Tyr151His)
c.124-10538T>C (n.124-10538T>C)
 ClinVar dbSNP
11g.2572897T>GCA379131445KCNQ1c.571T>G (p.Tyr191Asp)
c.478-10538T>G (n.478-10538T>G)
c.832T>G (p.Tyr278Asp)
c.451T>G (p.Tyr151Asp)
c.124-10538T>G (n.124-10538T>G)
11g.2572897T=CA1948243200KCNQ1c.571T= (p.Tyr191=)
c.478-10538T= (n.478-10538T=)
c.832T= (p.Tyr278=)
c.451T= (p.Tyr151=)
c.124-10538T= (n.124-10538T=)
11g.2572898A>CCA379131448KCNQ1c.572A>C (p.Tyr191Ser)
c.478-10537A>C (n.478-10537A>C)
c.833A>C (p.Tyr278Ser)
c.452A>C (p.Tyr151Ser)
c.124-10537A>C (n.124-10537A>C)
11g.2572898A>GCA379131449KCNQ1c.572A>G (p.Tyr191Cys)
c.478-10537A>G (n.478-10537A>G)
c.833A>G (p.Tyr278Cys)
c.452A>G (p.Tyr151Cys)
c.124-10537A>G (n.124-10537A>G)
11g.2572898A>TCA379131451KCNQ1c.572A>T (p.Tyr191Phe)
c.478-10537A>T (n.478-10537A>T)
c.833A>T (p.Tyr278Phe)
c.452A>T (p.Tyr151Phe)
c.124-10537A>T (n.124-10537A>T)
11g.2572899C>ACA379131453KCNQ1c.573C>A (p.Tyr191Ter)
c.478-10536C>A (n.478-10536C>A)
c.834C>A (p.Tyr278Ter)
c.453C>A (p.Tyr151Ter)
c.124-10536C>A (n.124-10536C>A)
11g.2572899C=CA1948243201KCNQ1c.573C= (p.Tyr191=)
c.478-10536C= (n.478-10536C=)
c.834C= (p.Tyr278=)
c.453C= (p.Tyr151=)
c.124-10536C= (n.124-10536C=)
11g.2572899C>GCA379131455KCNQ1c.573C>G (p.Tyr191Ter)
c.478-10536C>G (n.478-10536C>G)
c.834C>G (p.Tyr278Ter)
c.453C>G (p.Tyr151Ter)
c.124-10536C>G (n.124-10536C>G)
 ClinVar dbSNP
11g.2572899C>TCA472038160KCNQ1c.573C>T (p.Tyr191=)
c.478-10536C>T (n.478-10536C>T)
c.834C>T (p.Tyr278=)
c.453C>T (p.Tyr151=)
c.124-10536C>T (n.124-10536C>T)
11g.2572900T>ACA16044372KCNQ1c.574T>A (p.Phe192Ile)
c.478-10535T>A (n.478-10535T>A)
c.835T>A (p.Phe279Ile)
c.454T>A (p.Phe152Ile)
c.124-10535T>A (n.124-10535T>A)
 ClinVar dbSNP gnomAD v4
11g.2572900T>CCA379131456KCNQ1c.574T>C (p.Phe192Leu)
c.478-10535T>C (n.478-10535T>C)
c.835T>C (p.Phe279Leu)
c.454T>C (p.Phe152Leu)
c.124-10535T>C (n.124-10535T>C)
11g.2572900T>GCA379131459KCNQ1c.574T>G (p.Phe192Val)
c.478-10535T>G (n.478-10535T>G)
c.835T>G (p.Phe279Val)
c.454T>G (p.Phe152Val)
c.124-10535T>G (n.124-10535T>G)
11g.2572900T=CA1948243202KCNQ1c.574T= (p.Phe192=)
c.478-10535T= (n.478-10535T=)
c.835T= (p.Phe279=)
c.454T= (p.Phe152=)
c.124-10535T= (n.124-10535T=)
11g.2572902dupCA2573146075KCNQ1c.576dup (p.Val193CysfsTer5)
c.478-10533dup (n.478-10533dup)
c.837dup (p.Val280CysfsTer5)
c.456dup (p.Val153CysfsTer5)
c.124-10533dup (n.124-10533dup)
c.576dup (p.Val193CysfsTer?)
 ClinVar dbSNP
11g.2572901T>ACA379131461KCNQ1c.575T>A (p.Phe192Tyr)
c.478-10534T>A (n.478-10534T>A)
c.836T>A (p.Phe279Tyr)
c.455T>A (p.Phe152Tyr)
c.124-10534T>A (n.124-10534T>A)
11g.2572901T>CCA379131465KCNQ1c.575T>C (p.Phe192Ser)
c.478-10534T>C (n.478-10534T>C)
c.836T>C (p.Phe279Ser)
c.455T>C (p.Phe152Ser)
c.124-10534T>C (n.124-10534T>C)
11g.2572901T>GCA379131463KCNQ1c.575T>G (p.Phe192Cys)
c.478-10534T>G (n.478-10534T>G)
c.836T>G (p.Phe279Cys)
c.455T>G (p.Phe152Cys)
c.124-10534T>G (n.124-10534T>G)
 ClinVar dbSNP
11g.2572901T=CA1948243203KCNQ1c.575T= (p.Phe192=)
c.478-10534T= (n.478-10534T=)
c.836T= (p.Phe279=)
c.455T= (p.Phe152=)
c.124-10534T= (n.124-10534T=)
11g.2572902T>ACA379131467KCNQ1c.576T>A (p.Phe192Leu)
c.478-10533T>A (n.478-10533T>A)
c.837T>A (p.Phe279Leu)
c.456T>A (p.Phe152Leu)
c.124-10533T>A (n.124-10533T>A)
11g.2572902T>CCA472038161KCNQ1c.576T>C (p.Phe192=)
c.478-10533T>C (n.478-10533T>C)
c.837T>C (p.Phe279=)
c.456T>C (p.Phe152=)
c.124-10533T>C (n.124-10533T>C)
 ClinVar dbSNP gnomAD v4
11g.2572902T>GCA379131469KCNQ1c.576T>G (p.Phe192Leu)
c.478-10533T>G (n.478-10533T>G)
c.837T>G (p.Phe279Leu)
c.456T>G (p.Phe152Leu)
c.124-10533T>G (n.124-10533T>G)
 gnomAD v4
11g.2572902_2572903delinsTGCA1948243204KCNQ1c.576_577delinsTG (p.Phe192=)
c.478-10533_478-10532delinsTG (n.478-10533_478-10532delinsTG)
c.837_838delinsTG (p.Phe279=)
c.456_457delinsTG (p.Phe152=)
c.124-10533_124-10532delinsTG (n.124-10533_124-10532delinsTG)
11g.2572903delCA674974978KCNQ1c.577del (p.Val193CysfsTer9)
c.478-10532del (n.478-10532del)
c.838del (p.Val280CysfsTer9)
c.457del (p.Val153CysfsTer9)
c.124-10532del (n.124-10532del)
c.577del (p.Val193CysfsTer?)
 dbSNP
11g.2572903G>ACA379131471KCNQ1c.577G>A (p.Val193Met)
c.478-10532G>A (n.478-10532G>A)
c.838G>A (p.Val280Met)
c.457G>A (p.Val153Met)
c.124-10532G>A (n.124-10532G>A)
11g.2572903G>CCA379131473KCNQ1c.577G>C (p.Val193Leu)
c.478-10532G>C (n.478-10532G>C)
c.838G>C (p.Val280Leu)
c.457G>C (p.Val153Leu)
c.124-10532G>C (n.124-10532G>C)
11g.2572903G>TCA379131475KCNQ1c.577G>T (p.Val193Leu)
c.478-10532G>T (n.478-10532G>T)
c.838G>T (p.Val280Leu)
c.457G>T (p.Val153Leu)
c.124-10532G>T (n.124-10532G>T)
11g.2572904T>ACA008454KCNQ1c.578T>A (p.Val193Glu)
c.478-10531T>A (n.478-10531T>A)
c.839T>A (p.Val280Glu)
c.458T>A (p.Val153Glu)
c.124-10531T>A (n.124-10531T>A)
 ClinVar dbSNP gnomAD v4
11g.2572904T>CCA379131479KCNQ1c.578T>C (p.Val193Ala)
c.478-10531T>C (n.478-10531T>C)
c.839T>C (p.Val280Ala)
c.458T>C (p.Val153Ala)
c.124-10531T>C (n.124-10531T>C)
 ClinVar gnomAD v4
11g.2572904T>GCA379131481KCNQ1c.578T>G (p.Val193Gly)
c.478-10531T>G (n.478-10531T>G)
c.839T>G (p.Val280Gly)
c.458T>G (p.Val153Gly)
c.124-10531T>G (n.124-10531T>G)
11g.2572904T=CA1948243205KCNQ1c.578T= (p.Val193=)
c.478-10531T= (n.478-10531T=)
c.839T= (p.Val280=)
c.458T= (p.Val153=)
c.124-10531T= (n.124-10531T=)
11g.2572905G>ACA472038162KCNQ1c.579G>A (p.Val193=)
c.478-10530G>A (n.478-10530G>A)
c.840G>A (p.Val280=)
c.459G>A (p.Val153=)
c.124-10530G>A (n.124-10530G>A)
11g.2572905G>CCA472038163KCNQ1c.579G>C (p.Val193=)
c.478-10530G>C (n.478-10530G>C)
c.840G>C (p.Val280=)
c.459G>C (p.Val153=)
c.124-10530G>C (n.124-10530G>C)
 gnomAD v4
11g.2572905G=CA1948243206KCNQ1c.579G= (p.Val193=)
c.478-10530G= (n.478-10530G=)
c.840G= (p.Val280=)
c.459G= (p.Val153=)
c.124-10530G= (n.124-10530G=)
11g.2572905G>TCA472038164KCNQ1c.579G>T (p.Val193=)
c.478-10530G>T (n.478-10530G>T)
c.840G>T (p.Val280=)
c.459G>T (p.Val153=)
c.124-10530G>T (n.124-10530G>T)
 ClinVar dbSNP gnomAD v4
11g.2572906T>ACA379131482KCNQ1c.580T>A (p.Tyr194Asn)
c.478-10529T>A (n.478-10529T>A)
c.841T>A (p.Tyr281Asn)
c.460T>A (p.Tyr154Asn)
c.124-10529T>A (n.124-10529T>A)
c.580T>A
11g.2572906T>CCA379131484KCNQ1c.580T>C (p.Tyr194His)
c.478-10529T>C (n.478-10529T>C)
c.841T>C (p.Tyr281His)
c.460T>C (p.Tyr154His)
c.124-10529T>C (n.124-10529T>C)
c.580T>C
11g.2572906T>GCA379131486KCNQ1c.580T>G (p.Tyr194Asp)
c.478-10529T>G (n.478-10529T>G)
c.841T>G (p.Tyr281Asp)
c.460T>G (p.Tyr154Asp)
c.124-10529T>G (n.124-10529T>G)
c.580T>G
11g.2572907A=CA1948243207KCNQ1c.581A= (p.Tyr194=)
c.478-10528A= (n.478-10528A=)
c.842A= (p.Tyr281=)
c.461A= (p.Tyr154=)
c.124-10528A= (n.124-10528A=)
11g.2572907A>CCA379131488KCNQ1c.581A>C (p.Tyr194Ser)
c.478-10528A>C (n.478-10528A>C)
c.842A>C (p.Tyr281Ser)
c.461A>C (p.Tyr154Ser)
c.124-10528A>C (n.124-10528A>C)
11g.2572907A>GCA008464KCNQ1c.581A>G (p.Tyr194Cys)
c.478-10528A>G (n.478-10528A>G)
c.842A>G (p.Tyr281Cys)
c.461A>G (p.Tyr154Cys)
c.124-10528A>G (n.124-10528A>G)
 ClinVar dbSNP
11g.2572907A>TCA379131490KCNQ1c.581A>T (p.Tyr194Phe)
c.478-10528A>T (n.478-10528A>T)
c.842A>T (p.Tyr281Phe)
c.461A>T (p.Tyr154Phe)
c.124-10528A>T (n.124-10528A>T)
11g.2572908C>ACA16606921KCNQ1c.582C>A (p.Tyr194Ter)
c.478-10527C>A (n.478-10527C>A)
c.843C>A (p.Tyr281Ter)
c.462C>A (p.Tyr154Ter)
c.124-10527C>A (n.124-10527C>A)
 ClinVar dbSNP
11g.2572908C=CA1948243208KCNQ1c.582C= (p.Tyr194=)
c.478-10527C= (n.478-10527C=)
c.843C= (p.Tyr281=)
c.462C= (p.Tyr154=)
c.124-10527C= (n.124-10527C=)
11g.2572908C>GCA379131492KCNQ1c.582C>G (p.Tyr194Ter)
c.478-10527C>G (n.478-10527C>G)
c.843C>G (p.Tyr281Ter)
c.462C>G (p.Tyr154Ter)
c.124-10527C>G (n.124-10527C>G)
11g.2572908C>TCA472038165KCNQ1c.582C>T (p.Tyr194=)
c.478-10527C>T (n.478-10527C>T)
c.843C>T (p.Tyr281=)
c.462C>T (p.Tyr154=)
c.124-10527C>T (n.124-10527C>T)
 ClinVar gnomAD v4
11g.2572909C>ACA379131494KCNQ1c.583C>A (p.Leu195Met)
c.478-10526C>A (n.478-10526C>A)
c.844C>A (p.Leu282Met)
c.463C>A (p.Leu155Met)
c.124-10526C>A (n.124-10526C>A)
11g.2572909C=CA1948243209KCNQ1c.583C= (p.Leu195=)
c.478-10526C= (n.478-10526C=)
c.844C= (p.Leu282=)
c.463C= (p.Leu155=)
c.124-10526C= (n.124-10526C=)
11g.2572909C>GCA216312678KCNQ1c.583C>G (p.Leu195Val)
c.478-10526C>G (n.478-10526C>G)
c.844C>G (p.Leu282Val)
c.463C>G (p.Leu155Val)
c.124-10526C>G (n.124-10526C>G)
 ClinVar dbSNP gnomAD v4
11g.2572909C>TCA472038166KCNQ1c.583C>T (p.Leu195=)
c.478-10526C>T (n.478-10526C>T)
c.844C>T (p.Leu282=)
c.463C>T (p.Leu155=)
c.124-10526C>T (n.124-10526C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2572910T>ACA379131499KCNQ1c.584T>A (p.Leu195Gln)
c.478-10525T>A (n.478-10525T>A)
c.845T>A (p.Leu282Gln)
c.464T>A (p.Leu155Gln)
c.124-10525T>A (n.124-10525T>A)
11g.2572910T>CCA008471KCNQ1c.584T>C (p.Leu195Pro)
c.478-10525T>C (n.478-10525T>C)
c.845T>C (p.Leu282Pro)
c.464T>C (p.Leu155Pro)
c.124-10525T>C (n.124-10525T>C)
 ClinVar dbSNP
11g.2572910T>GCA379131501KCNQ1c.584T>G (p.Leu195Arg)
c.478-10525T>G (n.478-10525T>G)
c.845T>G (p.Leu282Arg)
c.464T>G (p.Leu155Arg)
c.124-10525T>G (n.124-10525T>G)
11g.2572910T=CA1948243210KCNQ1c.584T= (p.Leu195=)
c.478-10525T= (n.478-10525T=)
c.845T= (p.Leu282=)
c.464T= (p.Leu155=)
c.124-10525T= (n.124-10525T=)
11g.2572911G>ACA472038169KCNQ1c.585G>A (p.Leu195=)
c.478-10524G>A (n.478-10524G>A)
c.846G>A (p.Leu282=)
c.465G>A (p.Leu155=)
c.124-10524G>A (n.124-10524G>A)
11g.2572911G>CCA472038167KCNQ1c.585G>C (p.Leu195=)
c.478-10524G>C (n.478-10524G>C)
c.846G>C (p.Leu282=)
c.465G>C (p.Leu155=)
c.124-10524G>C (n.124-10524G>C)
11g.2572911G>TCA472038168KCNQ1c.585G>T (p.Leu195=)
c.478-10524G>T (n.478-10524G>T)
c.846G>T (p.Leu282=)
c.465G>T (p.Leu155=)
c.124-10524G>T (n.124-10524G>T)
11g.2572912G>ACA379131503KCNQ1c.586G>A (p.Ala196Thr)
c.478-10523G>A (n.478-10523G>A)
c.847G>A (p.Ala283Thr)
c.466G>A (p.Ala156Thr)
c.124-10523G>A (n.124-10523G>A)
11g.2572912G>CCA16613511KCNQ1c.586G>C (p.Ala196Pro)
c.478-10523G>C (n.478-10523G>C)
c.847G>C (p.Ala283Pro)
c.466G>C (p.Ala156Pro)
c.124-10523G>C (n.124-10523G>C)
 ClinVar dbSNP
11g.2572912G=CA1948243211KCNQ1c.586G= (p.Ala196=)
c.478-10523G= (n.478-10523G=)
c.847G= (p.Ala283=)
c.466G= (p.Ala156=)
c.124-10523G= (n.124-10523G=)
11g.2572912G>TCA379131505KCNQ1c.586G>T (p.Ala196Ser)
c.478-10523G>T (n.478-10523G>T)
c.847G>T (p.Ala283Ser)
c.466G>T (p.Ala156Ser)
c.124-10523G>T (n.124-10523G>T)
 ClinVar
11g.2572913C>ACA379131506KCNQ1c.587C>A (p.Ala196Asp)
c.478-10522C>A (n.478-10522C>A)
c.848C>A (p.Ala283Asp)
c.467C>A (p.Ala156Asp)
c.124-10522C>A (n.124-10522C>A)
11g.2572913C=CA1948243212KCNQ1c.587C= (p.Ala196=)
c.478-10522C= (n.478-10522C=)
c.848C= (p.Ala283=)
c.467C= (p.Ala156=)
c.124-10522C= (n.124-10522C=)
11g.2572913C>GCA008478KCNQ1c.587C>G (p.Ala196Gly)
c.478-10522C>G (n.478-10522C>G)
c.848C>G (p.Ala283Gly)
c.467C>G (p.Ala156Gly)
c.124-10522C>G (n.124-10522C>G)
 ClinVar dbSNP
11g.2572913C>TCA379131509KCNQ1c.587C>T (p.Ala196Val)
c.478-10522C>T (n.478-10522C>T)
c.848C>T (p.Ala283Val)
c.467C>T (p.Ala156Val)
c.124-10522C>T (n.124-10522C>T)
 ClinVar dbSNP gnomAD v4
11g.2572914T>ACA472038170KCNQ1c.588T>A (p.Ala196=)
c.478-10521T>A (n.478-10521T>A)
c.849T>A (p.Ala283=)
c.468T>A (p.Ala156=)
c.124-10521T>A (n.124-10521T>A)
11g.2572914T>CCA472038171KCNQ1c.588T>C (p.Ala196=)
c.478-10521T>C (n.478-10521T>C)
c.849T>C (p.Ala283=)
c.468T>C (p.Ala156=)
c.124-10521T>C (n.124-10521T>C)
11g.2572914T>GCA472038172KCNQ1c.588T>G (p.Ala196=)
c.478-10521T>G (n.478-10521T>G)
c.849T>G (p.Ala283=)
c.468T>G (p.Ala156=)
c.124-10521T>G (n.124-10521T>G)
11g.2572914_2572917delinsTGAGCA1948243213KCNQ1c.588_591delinsTGAG (p.Ala196=)
c.478-10521_478-10518delinsTGAG (n.478-10521_478-10518delinsTGAG)
c.849_852delinsTGAG (p.Ala283=)
c.468_471delinsTGAG (p.Ala156=)
c.124-10521_124-10518delinsTGAG (n.124-10521_124-10518delinsTGAG)
11g.2572915G>ACA008486KCNQ1c.589G>A (p.Glu197Lys)
c.478-10520G>A (n.478-10520G>A)
c.850G>A (p.Glu284Lys)
c.469G>A (p.Glu157Lys)
c.124-10520G>A (n.124-10520G>A)
 ClinVar dbSNP
11g.2572915G>CCA379131515KCNQ1c.589G>C (p.Glu197Gln)
c.478-10520G>C (n.478-10520G>C)
c.850G>C (p.Glu284Gln)
c.469G>C (p.Glu157Gln)
c.124-10520G>C (n.124-10520G>C)
11g.2572915G=CA1948243214KCNQ1c.589G= (p.Glu197=)
c.478-10520G= (n.478-10520G=)
c.850G= (p.Glu284=)
c.469G= (p.Glu157=)
c.124-10520G= (n.124-10520G=)
11g.2572915G>TCA379131513KCNQ1c.589G>T (p.Glu197Ter)
c.478-10520G>T (n.478-10520G>T)
c.850G>T (p.Glu284Ter)
c.469G>T (p.Glu157Ter)
c.124-10520G>T (n.124-10520G>T)
11g.2572915_2572917delCA16619310KCNQ1c.589_591del (p.Glu197del)
c.478-10520_478-10518del (n.478-10520_478-10518del)
c.850_852del (p.Glu284del)
c.469_471del (p.Glu157del)
c.124-10520_124-10518del (n.124-10520_124-10518del)
 ClinVar dbSNP
11g.2572916A=CA1948212019KCNQ1c.590A= (p.Glu197=)
c.478-10519A= (n.478-10519A=)
c.851A= (p.Glu284=)
c.470A= (p.Glu157=)
c.124-10519A= (n.124-10519A=)
11g.2572916A>CCA379131517KCNQ1c.590A>C (p.Glu197Ala)
c.478-10519A>C (n.478-10519A>C)
c.851A>C (p.Glu284Ala)
c.470A>C (p.Glu157Ala)
c.124-10519A>C (n.124-10519A>C)
11g.2572916A>GCA379131519KCNQ1c.590A>G (p.Glu197Gly)
c.478-10519A>G (n.478-10519A>G)
c.851A>G (p.Glu284Gly)
c.470A>G (p.Glu157Gly)
c.124-10519A>G (n.124-10519A>G)
 ClinVar dbSNP
11g.2572916A>TCA379131521KCNQ1c.590A>T (p.Glu197Val)
c.478-10519A>T (n.478-10519A>T)
c.851A>T (p.Glu284Val)
c.470A>T (p.Glu157Val)
c.124-10519A>T (n.124-10519A>T)
11g.2572917G>ACA472038173KCNQ1c.591G>A (p.Glu197=)
c.478-10518G>A (n.478-10518G>A)
c.852G>A (p.Glu284=)
c.471G>A (p.Glu157=)
c.124-10518G>A (n.124-10518G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
11g.2572917G>CCA379131523KCNQ1c.591G>C (p.Glu197Asp)
c.478-10518G>C (n.478-10518G>C)
c.852G>C (p.Glu284Asp)
c.471G>C (p.Glu157Asp)
c.124-10518G>C (n.124-10518G>C)
11g.2572917G=CA1948212034KCNQ1c.591G= (p.Glu197=)
c.478-10518G= (n.478-10518G=)
c.852G= (p.Glu284=)
c.471G= (p.Glu157=)
c.124-10518G= (n.124-10518G=)
11g.2572917G>TCA379131525KCNQ1c.591G>T (p.Glu197Asp)
c.478-10518G>T (n.478-10518G>T)
c.852G>T (p.Glu284Asp)
c.471G>T (p.Glu157Asp)
c.124-10518G>T (n.124-10518G>T)
11g.2572918A>CCA379131532KCNQ1c.592A>C (p.Lys198Gln)
c.478-10517A>C (n.478-10517A>C)
c.853A>C (p.Lys285Gln)
c.472A>C (p.Lys158Gln)
c.124-10517A>C (n.124-10517A>C)
11g.2572918A>GCA379131530KCNQ1c.592A>G (p.Lys198Glu)
c.478-10517A>G (n.478-10517A>G)
c.853A>G (p.Lys285Glu)
c.472A>G (p.Lys158Glu)
c.124-10517A>G (n.124-10517A>G)
11g.2572918A>TCA379131528KCNQ1c.592A>T (p.Lys198Ter)
c.478-10517A>T (n.478-10517A>T)
c.853A>T (p.Lys285Ter)
c.472A>T (p.Lys158Ter)
c.124-10517A>T (n.124-10517A>T)
11g.2572918_2572926delinsTACTTTGTGTACCTCGTACTTTCA658655515KCNQ1c.592_600delinsTACTTTGTGTACCTCGTACTTT (p.Lys198TyrfsTer?)
c.478-10517_478-10509delinsTACTTTGTGTACCTCGTACTTT (n.478-10517_478-10509delinsTACTTTGTGTACCTCGTACTTT)
c.853_861delinsTACTTTGTGTACCTCGTACTTT (p.Lys285TyrfsTer?)
c.472_480delinsTACTTTGTGTACCTCGTACTTT (p.Lys158TyrfsTer?)
c.124-10517_124-10509delinsTACTTTGTGTACCTCGTACTTT (n.124-10517_124-10509delinsTACTTTGTGTACCTCGTACTTT)
11g.2572919A>CCA379131534KCNQ1c.593A>C (p.Lys198Thr)
c.478-10516A>C (n.478-10516A>C)
c.854A>C (p.Lys285Thr)
c.473A>C (p.Lys158Thr)
c.124-10516A>C (n.124-10516A>C)
11g.2572919A>GCA379131536KCNQ1c.593A>G (p.Lys198Arg)
c.478-10516A>G (n.478-10516A>G)
c.854A>G (p.Lys285Arg)
c.473A>G (p.Lys158Arg)
c.124-10516A>G (n.124-10516A>G)
11g.2572919A>TCA379131539KCNQ1c.593A>T (p.Lys198Met)
c.478-10516A>T (n.478-10516A>T)
c.854A>T (p.Lys285Met)
c.473A>T (p.Lys158Met)
c.124-10516A>T (n.124-10516A>T)
11g.2572920G>ACA040953KCNQ1c.594G>A (p.Lys198=)
c.478-10515G>A (n.478-10515G>A)
c.855G>A (p.Lys285=)
c.474G>A (p.Lys158=)
c.124-10515G>A (n.124-10515G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
11g.2572920G>CCA379131542KCNQ1c.594G>C (p.Lys198Asn)
c.478-10515G>C (n.478-10515G>C)
c.855G>C (p.Lys285Asn)
c.474G>C (p.Lys158Asn)
c.124-10515G>C (n.124-10515G>C)
11g.2572920G=CA1948212041KCNQ1c.594G= (p.Lys198=)
c.478-10515G= (n.478-10515G=)
c.855G= (p.Lys285=)
c.474G= (p.Lys158=)
c.124-10515G= (n.124-10515G=)
11g.2572920G>TCA379131543KCNQ1c.594G>T (p.Lys198Asn)
c.478-10515G>T (n.478-10515G>T)
c.855G>T (p.Lys285Asn)
c.474G>T (p.Lys158Asn)
c.124-10515G>T (n.124-10515G>T)
11g.2572921G>ACA379131546KCNQ1c.595G>A (p.Asp199Asn)
c.478-10514G>A (n.478-10514G>A)
c.856G>A (p.Asp286Asn)
c.475G>A (p.Asp159Asn)
c.124-10514G>A (n.124-10514G>A)
 gnomAD v4
11g.2572921G>CCA379131544KCNQ1c.595G>C (p.Asp199His)
c.478-10514G>C (n.478-10514G>C)
c.856G>C (p.Asp286His)
c.475G>C (p.Asp159His)
c.124-10514G>C (n.124-10514G>C)
11g.2572921G>TCA379131545KCNQ1c.595G>T (p.Asp199Tyr)
c.478-10514G>T (n.478-10514G>T)
c.856G>T (p.Asp286Tyr)
c.475G>T (p.Asp159Tyr)
c.124-10514G>T (n.124-10514G>T)
11g.2572922A=CA1948212056KCNQ1c.596A= (p.Asp199=)
c.478-10513A= (n.478-10513A=)
c.857A= (p.Asp286=)
c.476A= (p.Asp159=)
c.124-10513A= (n.124-10513A=)
11g.2572922A>CCA379131547KCNQ1c.596A>C (p.Asp199Ala)
c.478-10513A>C (n.478-10513A>C)
c.857A>C (p.Asp286Ala)
c.476A>C (p.Asp159Ala)
c.124-10513A>C (n.124-10513A>C)
11g.2572922A>GCA379131548KCNQ1c.596A>G (p.Asp199Gly)
c.478-10513A>G (n.478-10513A>G)
c.857A>G (p.Asp286Gly)
c.476A>G (p.Asp159Gly)
c.124-10513A>G (n.124-10513A>G)
 dbSNP
11g.2572922A>TCA379131549KCNQ1c.596A>T (p.Asp199Val)
c.478-10513A>T (n.478-10513A>T)
c.857A>T (p.Asp286Val)
c.476A>T (p.Asp159Val)
c.124-10513A>T (n.124-10513A>T)
11g.2572922_2572941delinsACGCGGTGAACGAGTCAGGCCA1948212052KCNQ1c.596_615delinsACGCGGTGAACGAGTCAGGC (p.Asp199=)
c.478-10513_478-10494delinsACGCGGTGAACGAGTCAGGC (n.478-10513_478-10494delinsACGCGGTGAACGAGTCAGGC)
c.857_876delinsACGCGGTGAACGAGTCAGGC (p.Asp286=)
c.476_495delinsACGCGGTGAACGAGTCAGGC (p.Asp159=)
c.124-10513_124-10494delinsACGCGGTGAACGAGTCAGGC (n.124-10513_124-10494delinsACGCGGTGAACGAGTCAGGC)
11g.2572923C>ACA379131550KCNQ1c.597C>A (p.Asp199Glu)
c.478-10512C>A (n.478-10512C>A)
c.858C>A (p.Asp286Glu)
c.477C>A (p.Asp159Glu)
c.124-10512C>A (n.124-10512C>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2572923C=CA1948212061KCNQ1c.597C= (p.Asp199=)
c.478-10512C= (n.478-10512C=)
c.858C= (p.Asp286=)
c.477C= (p.Asp159=)
c.124-10512C= (n.124-10512C=)
11g.2572923C>GCA379131551KCNQ1c.597C>G (p.Asp199Glu)
c.478-10512C>G (n.478-10512C>G)
c.858C>G (p.Asp286Glu)
c.477C>G (p.Asp159Glu)
c.124-10512C>G (n.124-10512C>G)
 gnomAD v4
11g.2572923C>TCA040965KCNQ1c.597C>T (p.Asp199=)
c.478-10512C>T (n.478-10512C>T)
c.858C>T (p.Asp286=)
c.477C>T (p.Asp159=)
c.124-10512C>T (n.124-10512C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572927_2572945delCA008499KCNQ1c.601_619del (p.Val201TrpfsTer?)
c.478-10508_478-10490del (n.478-10508_478-10490del)
c.862_880del (p.Val288TrpfsTer?)
c.481_499del (p.Val161TrpfsTer?)
c.124-10508_124-10490del (n.124-10508_124-10490del)
 ClinVar dbSNP gnomAD v4
11g.2572924G>ACA040978KCNQ1c.598G>A (p.Ala200Thr)
c.478-10511G>A (n.478-10511G>A)
c.859G>A (p.Ala287Thr)
c.478G>A (p.Ala160Thr)
c.124-10511G>A (n.124-10511G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
11g.2572924G>CCA379131552KCNQ1c.598G>C (p.Ala200Pro)
c.478-10511G>C (n.478-10511G>C)
c.859G>C (p.Ala287Pro)
c.478G>C (p.Ala160Pro)
c.124-10511G>C (n.124-10511G>C)
11g.2572924G=CA1948212067KCNQ1c.598G= (p.Ala200=)
c.478-10511G= (n.478-10511G=)
c.859G= (p.Ala287=)
c.478G= (p.Ala160=)
c.124-10511G= (n.124-10511G=)
11g.2572924G>TCA040994KCNQ1c.598G>T (p.Ala200Ser)
c.478-10511G>T (n.478-10511G>T)
c.859G>T (p.Ala287Ser)
c.478G>T (p.Ala160Ser)
c.124-10511G>T (n.124-10511G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572925C>ACA008494KCNQ1c.599C>A (p.Ala200Glu)
c.478-10510C>A (n.478-10510C>A)
c.860C>A (p.Ala287Glu)
c.479C>A (p.Ala160Glu)
c.124-10510C>A (n.124-10510C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572925C=CA1948212085KCNQ1c.599C= (p.Ala200=)
c.478-10510C= (n.478-10510C=)
c.860C= (p.Ala287=)
c.479C= (p.Ala160=)
c.124-10510C= (n.124-10510C=)
11g.2572925C>GCA379131553KCNQ1c.599C>G (p.Ala200Gly)
c.478-10510C>G (n.478-10510C>G)
c.860C>G (p.Ala287Gly)
c.479C>G (p.Ala160Gly)
c.124-10510C>G (n.124-10510C>G)
11g.2572925C>TCA379131554KCNQ1c.599C>T (p.Ala200Val)
c.478-10510C>T (n.478-10510C>T)
c.860C>T (p.Ala287Val)
c.479C>T (p.Ala160Val)
c.124-10510C>T (n.124-10510C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2572926G>ACA041034KCNQ1c.600G>A (p.Ala200=)
c.478-10509G>A (n.478-10509G>A)
c.861G>A (p.Ala287=)
c.480G>A (p.Ala160=)
c.124-10509G>A (n.124-10509G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572926G>CCA472038174KCNQ1c.600G>C (p.Ala200=)
c.478-10509G>C (n.478-10509G>C)
c.861G>C (p.Ala287=)
c.480G>C (p.Ala160=)
c.124-10509G>C (n.124-10509G>C)
 dbSNP gnomAD v2 gnomAD v4
11g.2572926G=CA1948212097KCNQ1c.600G= (p.Ala200=)
c.478-10509G= (n.478-10509G=)
c.861G= (p.Ala287=)
c.480G= (p.Ala160=)
c.124-10509G= (n.124-10509G=)
11g.2572926G>TCA472038175KCNQ1c.600G>T (p.Ala200=)
c.478-10509G>T (n.478-10509G>T)
c.861G>T (p.Ala287=)
c.480G>T (p.Ala160=)
c.124-10509G>T (n.124-10509G>T)
11g.2572927G>ACA379131556KCNQ1c.601G>A (p.Val201Met)
c.478-10508G>A (n.478-10508G>A)
c.862G>A (p.Val288Met)
c.481G>A (p.Val161Met)
c.124-10508G>A (n.124-10508G>A)
 ClinVar dbSNP gnomAD v4
11g.2572927G>CCA379131555KCNQ1c.601G>C (p.Val201Leu)
c.478-10508G>C (n.478-10508G>C)
c.862G>C (p.Val288Leu)
c.481G>C (p.Val161Leu)
c.124-10508G>C (n.124-10508G>C)
11g.2572927G=CA1948212102KCNQ1c.601G= (p.Val201=)
c.478-10508G= (n.478-10508G=)
c.862G= (p.Val288=)
c.481G= (p.Val161=)
c.124-10508G= (n.124-10508G=)
11g.2572927G>TCA216312748KCNQ1c.601G>T (p.Val201Leu)
c.478-10508G>T (n.478-10508G>T)
c.862G>T (p.Val288Leu)
c.481G>T (p.Val161Leu)
c.124-10508G>T (n.124-10508G>T)
 dbSNP gnomAD v4
11g.2572928T>ACA379131559KCNQ1c.602T>A (p.Val201Glu)
c.478-10507T>A (n.478-10507T>A)
c.863T>A (p.Val288Glu)
c.482T>A (p.Val161Glu)
c.124-10507T>A (n.124-10507T>A)
11g.2572928T>CCA379131557KCNQ1c.602T>C (p.Val201Ala)
c.478-10507T>C (n.478-10507T>C)
c.863T>C (p.Val288Ala)
c.482T>C (p.Val161Ala)
c.124-10507T>C (n.124-10507T>C)
11g.2572928T>GCA379131558KCNQ1c.602T>G (p.Val201Gly)
c.478-10507T>G (n.478-10507T>G)
c.863T>G (p.Val288Gly)
c.482T>G (p.Val161Gly)
c.124-10507T>G (n.124-10507T>G)
11g.2572929G>ACA472038176KCNQ1c.603G>A (p.Val201=)
c.478-10506G>A (n.478-10506G>A)
c.864G>A (p.Val288=)
c.483G>A (p.Val161=)
c.124-10506G>A (n.124-10506G>A)
 ClinVar gnomAD v4
11g.2572929G>CCA472038178KCNQ1c.603G>C (p.Val201=)
c.478-10506G>C (n.478-10506G>C)
c.864G>C (p.Val288=)
c.483G>C (p.Val161=)
c.124-10506G>C (n.124-10506G>C)
11g.2572929G>TCA472038177KCNQ1c.603G>T (p.Val201=)
c.478-10506G>T (n.478-10506G>T)
c.864G>T (p.Val288=)
c.483G>T (p.Val161=)
c.124-10506G>T (n.124-10506G>T)
 gnomAD v4
11g.2572930A>CCA379131560KCNQ1c.604A>C (p.Asn202His)
c.478-10505A>C (n.478-10505A>C)
c.865A>C (p.Asn289His)
c.484A>C (p.Asn162His)
c.124-10505A>C (n.124-10505A>C)
11g.2572930A>GCA379131561KCNQ1c.604A>G (p.Asn202Asp)
c.478-10505A>G (n.478-10505A>G)
c.865A>G (p.Asn289Asp)
c.484A>G (p.Asn162Asp)
c.124-10505A>G (n.124-10505A>G)
 ClinVar
11g.2572930A>TCA379131562KCNQ1c.604A>T (p.Asn202Tyr)
c.478-10505A>T (n.478-10505A>T)
c.865A>T (p.Asn289Tyr)
c.484A>T (p.Asn162Tyr)
c.124-10505A>T (n.124-10505A>T)
11g.2572931A>CCA379131563KCNQ1c.605A>C (p.Asn202Thr)
c.478-10504A>C (n.478-10504A>C)
c.866A>C (p.Asn289Thr)
c.485A>C (p.Asn162Thr)
c.124-10504A>C (n.124-10504A>C)
11g.2572931A>GCA379131564KCNQ1c.605A>G (p.Asn202Ser)
c.478-10504A>G (n.478-10504A>G)
c.866A>G (p.Asn289Ser)
c.485A>G (p.Asn162Ser)
c.124-10504A>G (n.124-10504A>G)
11g.2572931A>TCA379131565KCNQ1c.605A>T (p.Asn202Ile)
c.478-10504A>T (n.478-10504A>T)
c.866A>T (p.Asn289Ile)
c.485A>T (p.Asn162Ile)
c.124-10504A>T (n.124-10504A>T)
11g.2572932C>ACA379131566KCNQ1c.606C>A (p.Asn202Lys)
c.478-10503C>A (n.478-10503C>A)
c.867C>A (p.Asn289Lys)
c.486C>A (p.Asn162Lys)
c.124-10503C>A (n.124-10503C>A)
11g.2572932C=CA1948212115KCNQ1c.606C= (p.Asn202=)
c.478-10503C= (n.478-10503C=)
c.867C= (p.Asn289=)
c.486C= (p.Asn162=)
c.124-10503C= (n.124-10503C=)
11g.2572932C>GCA379131567KCNQ1c.606C>G (p.Asn202Lys)
c.478-10503C>G (n.478-10503C>G)
c.867C>G (p.Asn289Lys)
c.486C>G (p.Asn162Lys)
c.124-10503C>G (n.124-10503C>G)
11g.2572932C>TCA472038179KCNQ1c.606C>T (p.Asn202=)
c.478-10503C>T (n.478-10503C>T)
c.867C>T (p.Asn289=)
c.486C>T (p.Asn162=)
c.124-10503C>T (n.124-10503C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
11g.2572933G>ACA008514KCNQ1c.607G>A (p.Glu203Lys)
c.478-10502G>A (n.478-10502G>A)
c.868G>A (p.Glu290Lys)
c.487G>A (p.Glu163Lys)
c.124-10502G>A (n.124-10502G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
11g.2572933G>CCA379131569KCNQ1c.607G>C (p.Glu203Gln)
c.478-10502G>C (n.478-10502G>C)
c.868G>C (p.Glu290Gln)
c.487G>C (p.Glu163Gln)
c.124-10502G>C (n.124-10502G>C)
 gnomAD v4
11g.2572933G=CA1948212124KCNQ1c.607G= (p.Glu203=)
c.478-10502G= (n.478-10502G=)
c.868G= (p.Glu290=)
c.487G= (p.Glu163=)
c.124-10502G= (n.124-10502G=)
11g.2572933G>TCA379131571KCNQ1c.607G>T (p.Glu203Ter)
c.478-10502G>T (n.478-10502G>T)
c.868G>T (p.Glu290Ter)
c.487G>T (p.Glu163Ter)
c.124-10502G>T (n.124-10502G>T)
11g.2572934A>CCA379131573KCNQ1c.608A>C (p.Glu203Ala)
c.478-10501A>C (n.478-10501A>C)
c.869A>C (p.Glu290Ala)
c.488A>C (p.Glu163Ala)
c.124-10501A>C (n.124-10501A>C)
11g.2572934A>GCA379131576KCNQ1c.608A>G (p.Glu203Gly)
c.478-10501A>G (n.478-10501A>G)
c.869A>G (p.Glu290Gly)
c.488A>G (p.Glu163Gly)
c.124-10501A>G (n.124-10501A>G)
 ClinVar
11g.2572934A>TCA379131574KCNQ1c.608A>T (p.Glu203Val)
c.478-10501A>T (n.478-10501A>T)
c.869A>T (p.Glu290Val)
c.488A>T (p.Glu163Val)
c.124-10501A>T (n.124-10501A>T)
11g.2572935G>ACA472038180KCNQ1c.609G>A (p.Glu203=)
c.478-10500G>A (n.478-10500G>A)
c.870G>A (p.Glu290=)
c.489G>A (p.Glu163=)
c.124-10500G>A (n.124-10500G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
11g.2572935G>CCA379131577KCNQ1c.609G>C (p.Glu203Asp)
c.478-10500G>C (n.478-10500G>C)
c.870G>C (p.Glu290Asp)
c.489G>C (p.Glu163Asp)
c.124-10500G>C (n.124-10500G>C)
11g.2572935G=CA1948212135KCNQ1c.609G= (p.Glu203=)
c.478-10500G= (n.478-10500G=)
c.870G= (p.Glu290=)
c.489G= (p.Glu163=)
c.124-10500G= (n.124-10500G=)
11g.2572935G>TCA379131579KCNQ1c.609G>T (p.Glu203Asp)
c.478-10500G>T (n.478-10500G>T)
c.870G>T (p.Glu290Asp)
c.489G>T (p.Glu163Asp)
c.124-10500G>T (n.124-10500G>T)
11g.2572936T>ACA379131582KCNQ1c.610T>A (p.Ser204Thr)
c.478-10499T>A (n.478-10499T>A)
c.871T>A (p.Ser291Thr)
c.490T>A (p.Ser164Thr)
c.124-10499T>A (n.124-10499T>A)
11g.2572936T>CCA379131583KCNQ1c.610T>C (p.Ser204Pro)
c.478-10499T>C (n.478-10499T>C)
c.871T>C (p.Ser291Pro)
c.490T>C (p.Ser164Pro)
c.124-10499T>C (n.124-10499T>C)
11g.2572936T>GCA379131585KCNQ1c.610T>G (p.Ser204Ala)
c.478-10499T>G (n.478-10499T>G)
c.871T>G (p.Ser291Ala)
c.490T>G (p.Ser164Ala)
c.124-10499T>G (n.124-10499T>G)
11g.2572937C>ACA379131588KCNQ1c.611C>A (p.Ser204Ter)
c.478-10498C>A (n.478-10498C>A)
c.872C>A (p.Ser291Ter)
c.491C>A (p.Ser164Ter)
c.124-10498C>A (n.124-10498C>A)
 gnomAD v4
11g.2572937C=CA1948212142KCNQ1c.611C= (p.Ser204=)
c.478-10498C= (n.478-10498C=)
c.872C= (p.Ser291=)
c.491C= (p.Ser164=)
c.124-10498C= (n.124-10498C=)
11g.2572937C>GCA379131590KCNQ1c.611C>G (p.Ser204Ter)
c.478-10498C>G (n.478-10498C>G)
c.872C>G (p.Ser291Ter)
c.491C>G (p.Ser164Ter)
c.124-10498C>G (n.124-10498C>G)
11g.2572937C>TCA379131592KCNQ1c.611C>T (p.Ser204Leu)
c.478-10498C>T (n.478-10498C>T)
c.872C>T (p.Ser291Leu)
c.491C>T (p.Ser164Leu)
c.124-10498C>T (n.124-10498C>T)
 dbSNP gnomAD v3 gnomAD v4
11g.2572938A=CA1948212171KCNQ1c.612A= (p.Ser204=)
c.478-10497A= (n.478-10497A=)
c.873A= (p.Ser291=)
c.492A= (p.Ser164=)
c.124-10497A= (n.124-10497A=)
11g.2572938A>CCA472038181KCNQ1c.612A>C (p.Ser204=)
c.478-10497A>C (n.478-10497A>C)
c.873A>C (p.Ser291=)
c.492A>C (p.Ser164=)
c.124-10497A>C (n.124-10497A>C)
11g.2572938A>GCA472038182KCNQ1c.612A>G (p.Ser204=)
c.478-10497A>G (n.478-10497A>G)
c.873A>G (p.Ser291=)
c.492A>G (p.Ser164=)
c.124-10497A>G (n.124-10497A>G)
 ClinVar dbSNP gnomAD v4
11g.2572938A>TCA472038183KCNQ1c.612A>T (p.Ser204=)
c.478-10497A>T (n.478-10497A>T)
c.873A>T (p.Ser291=)
c.492A>T (p.Ser164=)
c.124-10497A>T (n.124-10497A>T)
11g.2572939G>ACA379131594KCNQ1c.613G>A (p.Gly205Ser)
c.478-10496G>A (n.478-10496G>A)
c.874G>A (p.Gly292Ser)
c.493G>A (p.Gly165Ser)
c.124-10496G>A (n.124-10496G>A)
11g.2572939G>CCA379131597KCNQ1c.613G>C (p.Gly205Arg)
c.478-10496G>C (n.478-10496G>C)
c.874G>C (p.Gly292Arg)
c.493G>C (p.Gly165Arg)
c.124-10496G>C (n.124-10496G>C)
11g.2572939G>TCA379131599KCNQ1c.613G>T (p.Gly205Cys)
c.478-10496G>T (n.478-10496G>T)
c.874G>T (p.Gly292Cys)
c.493G>T (p.Gly165Cys)
c.124-10496G>T (n.124-10496G>T)

Number of alleles fetched