Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.2572826_2572828delinsCTG | CA1948243155 | KCNQ1 | c.520-20_520-18delinsCTG (n.520-20_520-18delinsCTG) c.478-10609_478-10607delinsCTG (n.478-10609_478-10607delinsCTG) c.781-20_781-18delinsCTG (n.781-20_781-18delinsCTG) c.400-20_400-18delinsCTG (n.400-20_400-18delinsCTG) c.124-10609_124-10607delinsCTG (n.124-10609_124-10607delinsCTG) | |
11 | g.2572827T>G | CA008207 | KCNQ1 | c.520-19T>G (n.520-19T>G) c.478-10608T>G (n.478-10608T>G) c.781-19T>G (n.781-19T>G) c.400-19T>G (n.400-19T>G) c.124-10608T>G (n.124-10608T>G) | dbSNP |
11 | g.2572827T= | CA1948243157 | KCNQ1 | c.520-19T= (n.520-19T=) c.478-10608T= (n.478-10608T=) c.781-19T= (n.781-19T=) c.400-19T= (n.400-19T=) c.124-10608T= (n.124-10608T=) | |
11 | g.2572832_2572833del | CA008201 | KCNQ1 | c.520-14_520-13del (n.520-14_520-13del) c.478-10603_478-10602del (n.478-10603_478-10602del) c.781-14_781-13del (n.781-14_781-13del) c.400-14_400-13del (n.400-14_400-13del) c.124-10603_124-10602del (n.124-10603_124-10602del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.2572828G>A | CA1948243159 | KCNQ1 | c.520-18G>A (n.520-18G>A) c.478-10607G>A (n.478-10607G>A) c.781-18G>A (n.781-18G>A) c.400-18G>A (n.400-18G>A) c.124-10607G>A (n.124-10607G>A) | dbSNP gnomAD v4 |
11 | g.2572828G= | CA1948243158 | KCNQ1 | c.520-18G= (n.520-18G=) c.478-10607G= (n.478-10607G=) c.781-18G= (n.781-18G=) c.400-18G= (n.400-18G=) c.124-10607G= (n.124-10607G=) | |
11 | g.2572828G>T | CA934460584 | KCNQ1 | c.520-18G>T (n.520-18G>T) c.478-10607G>T (n.478-10607G>T) c.781-18G>T (n.781-18G>T) c.400-18G>T (n.400-18G>T) c.124-10607G>T (n.124-10607G>T) | dbSNP |
11 | g.2572830G>A | CA2612004117 | KCNQ1 | c.520-16G>A (n.520-16G>A) c.478-10605G>A (n.478-10605G>A) c.781-16G>A (n.781-16G>A) c.400-16G>A (n.400-16G>A) c.124-10605G>A (n.124-10605G>A) | gnomAD v4 |
11 | g.2572830G>C | CA2612004118 | KCNQ1 | c.520-16G>C (n.520-16G>C) c.478-10605G>C (n.478-10605G>C) c.781-16G>C (n.781-16G>C) c.400-16G>C (n.400-16G>C) c.124-10605G>C (n.124-10605G>C) | gnomAD v4 |
11 | g.2572832G>T | CA2612004119 | KCNQ1 | c.520-14G>T (n.520-14G>T) c.478-10603G>T (n.478-10603G>T) c.781-14G>T (n.781-14G>T) c.400-14G>T (n.400-14G>T) c.124-10603G>T (n.124-10603G>T) | gnomAD v4 |
11 | g.2572834T>C | CA1948243161 | KCNQ1 | c.520-12T>C (n.520-12T>C) c.478-10601T>C (n.478-10601T>C) c.781-12T>C (n.781-12T>C) c.400-12T>C (n.400-12T>C) c.124-10601T>C (n.124-10601T>C) | dbSNP gnomAD v4 |
11 | g.2572834T= | CA1948243160 | KCNQ1 | c.520-12T= (n.520-12T=) c.478-10601T= (n.478-10601T=) c.781-12T= (n.781-12T=) c.400-12T= (n.400-12T=) c.124-10601T= (n.124-10601T=) | |
11 | g.2572835T>C | CA2612004120 | KCNQ1 | c.520-11T>C (n.520-11T>C) c.478-10600T>C (n.478-10600T>C) c.781-11T>C (n.781-11T>C) c.400-11T>C (n.400-11T>C) c.124-10600T>C (n.124-10600T>C) | gnomAD v4 |
11 | g.2572837C>T | CA2612004121 | KCNQ1 | c.520-9C>T (n.520-9C>T) c.478-10598C>T (n.478-10598C>T) c.781-9C>T (n.781-9C>T) c.400-9C>T (n.400-9C>T) c.124-10598C>T (n.124-10598C>T) | gnomAD v4 |
11 | g.2572838T>G | CA2825001866 | KCNQ1 | c.520-8T>G (n.520-8T>G) c.478-10597T>G (n.478-10597T>G) c.781-8T>G (n.781-8T>G) c.400-8T>G (n.400-8T>G) c.124-10597T>G (n.124-10597T>G) | ClinVar |
11 | g.2572839G>T | CA645569426 | KCNQ1 | c.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 |
11 | g.2572840G= | CA1948243162 | KCNQ1 | c.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=) | |
11 | g.2572840G>T | CA10638251 | KCNQ1 | c.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 |
11 | g.2572841C>A | CA2612004122 | KCNQ1 | c.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 |
11 | g.2572844A>C | CA379131225 | KCNQ1 | c.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) | |
11 | g.2572844A>G | CA379131227 | KCNQ1 | c.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) | |
11 | g.2572844A>T | CA379131230 | KCNQ1 | c.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) | |
11 | g.2572845G>A | CA379131234 | KCNQ1 | c.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) | |
11 | g.2572845G>C | CA379131236 | KCNQ1 | c.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) | |
11 | g.2572845G>T | CA379131233 | KCNQ1 | c.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) | |
11 | g.2572846G>A | CA008215 | KCNQ1 | c.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 |
11 | g.2572846G>C | CA008221 | KCNQ1 | c.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 |
11 | g.2572846G= | CA1948243164 | KCNQ1 | c.520G= (p.Glu174=) c.478-10589G= (n.478-10589G=) c.781G= (p.Glu261=) c.400G= (p.Glu134=) c.124-10589G= (n.124-10589G=) | |
11 | g.2572846G>T | CA379131241 | KCNQ1 | c.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 |
11 | g.2572846_2572847delinsGA | CA1948243163 | KCNQ1 | c.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) | |
11 | g.2572846_2572847delinsTC | CA2695213153 | KCNQ1 | c.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) | |
11 | g.2572846_2572847delinsTT | CA16613282 | KCNQ1 | c.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 |
11 | g.2572847A>C | CA379131243 | KCNQ1 | c.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) | |
11 | g.2572847A>G | CA379131246 | KCNQ1 | c.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) | |
11 | g.2572847A>T | CA379131247 | KCNQ1 | c.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) | |
11 | g.2572848G>A | CA472038116 | KCNQ1 | c.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) | |
11 | g.2572848G>C | CA008229 | KCNQ1 | c.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 |
11 | g.2572848G= | CA1948243165 | KCNQ1 | c.522G= (p.Glu174=) c.478-10587G= (n.478-10587G=) c.783G= (p.Glu261=) c.402G= (p.Glu134=) c.124-10587G= (n.124-10587G=) | |
11 | g.2572848G>T | CA379131251 | KCNQ1 | c.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) | |
11 | g.2572849C>A | CA379131254 | KCNQ1 | c.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) | |
11 | g.2572849C= | CA1948243166 | KCNQ1 | c.523C= (p.Leu175=) c.478-10586C= (n.478-10586C=) c.784C= (p.Leu262=) c.403C= (p.Leu135=) c.124-10586C= (n.124-10586C=) | |
11 | g.2572849C>G | CA008237 | KCNQ1 | c.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 |
11 | g.2572849C>T | CA472038117 | KCNQ1 | c.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) | |
11 | g.2572850T>A | CA379131257 | KCNQ1 | c.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 |
11 | g.2572850T>C | CA379131259 | KCNQ1 | c.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 |
11 | g.2572850T>G | CA379131260 | KCNQ1 | c.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 |
11 | g.2572850T= | CA1948243167 | KCNQ1 | c.524T= (p.Leu175=) c.478-10585T= (n.478-10585T=) c.785T= (p.Leu262=) c.404T= (p.Leu135=) c.124-10585T= (n.124-10585T=) | |
11 | g.2572851G>A | CA472038121 | KCNQ1 | c.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 |
11 | g.2572851G>C | CA472038118 | KCNQ1 | c.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) | |
11 | g.2572851G>T | CA472038119 | KCNQ1 | c.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) | |
11 | g.2572852A>C | CA379131266 | KCNQ1 | c.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) | |
11 | g.2572852A>G | CA379131265 | KCNQ1 | c.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 |
11 | g.2572852A>T | CA379131263 | KCNQ1 | c.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) | |
11 | g.2572852_2572853delinsAT | CA1948243168 | KCNQ1 | c.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) | |
11 | g.2572853del | CA918805527 | KCNQ1 | c.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 |
11 | g.2572853T>A | CA379131268 | KCNQ1 | c.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 |
11 | g.2572853T>C | CA379131270 | KCNQ1 | c.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) | |
11 | g.2572853T>G | CA379131272 | KCNQ1 | c.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) | |
11 | g.2572854A>C | CA472038123 | KCNQ1 | c.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) | |
11 | g.2572854A>G | CA379131274 | KCNQ1 | c.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) | |
11 | g.2572854A>T | CA472038124 | KCNQ1 | c.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) | |
11 | g.2572855A>C | CA379131277 | KCNQ1 | c.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) | |
11 | g.2572855A>G | CA379131279 | KCNQ1 | c.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) | |
11 | g.2572855A>T | CA379131280 | KCNQ1 | c.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) | |
11 | g.2572855_2572856del | CA2697558900 | KCNQ1 | c.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 |
11 | g.2572856C>A | CA379131283 | KCNQ1 | c.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) | |
11 | g.2572856C= | CA1948243169 | KCNQ1 | c.530C= (p.Thr177=) c.478-10579C= (n.478-10579C=) c.791C= (p.Thr264=) c.410C= (p.Thr137=) c.124-10579C= (n.124-10579C=) | |
11 | g.2572856C>G | CA040719 | KCNQ1 | c.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 |
11 | g.2572856C>T | CA379131285 | KCNQ1 | c.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) | |
11 | g.2572857C>A | CA472038125 | KCNQ1 | c.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) | |
11 | g.2572857C>G | CA472038126 | KCNQ1 | c.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 |
11 | g.2572857C>T | CA472038127 | KCNQ1 | c.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 |
11 | g.2572858A>C | CA379131288 | KCNQ1 | c.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) | |
11 | g.2572858A>G | CA379131289 | KCNQ1 | c.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 |
11 | g.2572858A>T | CA379131291 | KCNQ1 | c.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) | |
11 | g.2572858_2572859delinsAC | CA1948243170 | KCNQ1 | c.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) | |
11 | g.2572859C>A | CA379131296 | KCNQ1 | c.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 |
11 | g.2572859C= | CA1948243171 | KCNQ1 | c.533C= (p.Thr178=) c.478-10576C= (n.478-10576C=) c.794C= (p.Thr265=) c.413C= (p.Thr138=) c.124-10576C= (n.124-10576C=) | |
11 | g.2572859C>G | CA379131295 | KCNQ1 | c.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) | |
11 | g.2572859C>T | CA008246 | KCNQ1 | c.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 |
11 | g.2572861del | CA008255 | KCNQ1 | c.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 |
11 | g.2572860C>A | CA472038128 | KCNQ1 | c.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) | |
11 | g.2572860C= | CA1948243172 | KCNQ1 | c.534C= (p.Thr178=) c.478-10575C= (n.478-10575C=) c.795C= (p.Thr265=) c.414C= (p.Thr138=) c.124-10575C= (n.124-10575C=) | |
11 | g.2572860C>G | CA472038129 | KCNQ1 | c.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 |
11 | g.2572860C>T | CA472038130 | KCNQ1 | c.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 |
11 | g.2572861C>A | CA379131299 | KCNQ1 | c.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 |
11 | g.2572861C= | CA1948243173 | KCNQ1 | c.535C= (p.Leu179=) c.478-10574C= (n.478-10574C=) c.796C= (p.Leu266=) c.415C= (p.Leu139=) c.124-10574C= (n.124-10574C=) | |
11 | g.2572861C>G | CA379131301 | KCNQ1 | c.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) | |
11 | g.2572861C>T | CA472038131 | KCNQ1 | c.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 |
11 | g.2572862T>A | CA379131303 | KCNQ1 | c.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 |
11 | g.2572862T>C | CA008262 | KCNQ1 | c.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 |
11 | g.2572862T>G | CA16606299 | KCNQ1 | c.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 |
11 | g.2572862T= | CA1948243174 | KCNQ1 | c.536T= (p.Leu179=) c.478-10573T= (n.478-10573T=) c.797T= (p.Leu266=) c.416T= (p.Leu139=) c.124-10573T= (n.124-10573T=) | |
11 | g.2572863G>A | CA472038133 | KCNQ1 | c.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) | |
11 | g.2572863G>C | CA472038134 | KCNQ1 | c.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) | |
11 | g.2572863G>T | CA472038135 | KCNQ1 | c.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) | |
11 | g.2572864T>A | CA379131308 | KCNQ1 | c.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) | |
11 | g.2572864T>C | CA379131309 | KCNQ1 | c.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) | |
11 | g.2572864T>G | CA379131311 | KCNQ1 | c.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) | |
11 | g.2572865A= | CA1948243175 | KCNQ1 | c.539A= (p.Tyr180=) c.478-10570A= (n.478-10570A=) c.800A= (p.Tyr267=) c.419A= (p.Tyr140=) c.124-10570A= (n.124-10570A=) | |
11 | g.2572865A>C | CA379131313 | KCNQ1 | c.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) | |
11 | g.2572865A>G | CA379131315 | KCNQ1 | c.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 |
11 | g.2572865A>T | CA10587722 | KCNQ1 | c.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 |
11 | g.2572866C>A | CA379131318 | KCNQ1 | c.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) | |
11 | g.2572866C= | CA1948243176 | KCNQ1 | c.540C= (p.Tyr180=) c.478-10569C= (n.478-10569C=) c.801C= (p.Tyr267=) c.420C= (p.Tyr140=) c.124-10569C= (n.124-10569C=) | |
11 | g.2572866C>G | CA379131319 | KCNQ1 | c.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) | |
11 | g.2572866C>T | CA472038138 | KCNQ1 | c.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 |
11 | g.2572867A= | CA1948243177 | KCNQ1 | c.541A= (p.Ile181=) c.478-10568A= (n.478-10568A=) c.802A= (p.Ile268=) c.421A= (p.Ile141=) c.124-10568A= (n.124-10568A=) | |
11 | g.2572867A>C | CA379131324 | KCNQ1 | c.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) | |
11 | g.2572867A>G | CA040733 | KCNQ1 | c.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 |
11 | g.2572867A>T | CA379131321 | KCNQ1 | c.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) | |
11 | g.2572868del | CA2695213154 | KCNQ1 | c.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?) | |
11 | g.2572868T>A | CA379131326 | KCNQ1 | c.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) | |
11 | g.2572868T>C | CA379131328 | KCNQ1 | c.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) | |
11 | g.2572868T>G | CA008270 | KCNQ1 | c.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 |
11 | g.2572868T= | CA1948243178 | KCNQ1 | c.542T= (p.Ile181=) c.478-10567T= (n.478-10567T=) c.803T= (p.Ile268=) c.422T= (p.Ile141=) c.124-10567T= (n.124-10567T=) | |
11 | g.2572870_2572884del | CA2695213155 | KCNQ1 | c.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) | |
11 | g.2572869C>A | CA472038139 | KCNQ1 | c.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 |
11 | g.2572869C= | CA1948243179 | KCNQ1 | c.543C= (p.Ile181=) c.478-10566C= (n.478-10566C=) c.804C= (p.Ile268=) c.423C= (p.Ile141=) c.124-10566C= (n.124-10566C=) | |
11 | g.2572869C>G | CA379131331 | KCNQ1 | c.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) | |
11 | g.2572869C>T | CA040745 | KCNQ1 | c.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 |
11 | g.2572870G>A | CA008278 | KCNQ1 | c.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 |
11 | g.2572870G>C | CA008284 | KCNQ1 | c.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 |
11 | g.2572870G= | CA1948243180 | KCNQ1 | c.544G= (p.Gly182=) c.478-10565G= (n.478-10565G=) c.805G= (p.Gly269=) c.424G= (p.Gly142=) c.124-10565G= (n.124-10565G=) | |
11 | g.2572870G>T | CA379131337 | KCNQ1 | c.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) | |
11 | g.2572871G>A | CA008292 | KCNQ1 | c.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 |
11 | g.2572871G>C | CA379131341 | KCNQ1 | c.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) | |
11 | g.2572871G= | CA1948243181 | KCNQ1 | c.545G= (p.Gly182=) c.478-10564G= (n.478-10564G=) c.806G= (p.Gly269=) c.425G= (p.Gly142=) c.124-10564G= (n.124-10564G=) | |
11 | g.2572871G>T | CA008303 | KCNQ1 | c.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 |
11 | g.2572872C>A | CA472038142 | KCNQ1 | c.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) | |
11 | g.2572872C= | CA1948243182 | KCNQ1 | c.546C= (p.Gly182=) c.478-10563C= (n.478-10563C=) c.807C= (p.Gly269=) c.426C= (p.Gly142=) c.124-10563C= (n.124-10563C=) | |
11 | g.2572872C>G | CA472038140 | KCNQ1 | c.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) | |
11 | g.2572872C>T | CA472038141 | KCNQ1 | c.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 |
11 | g.2572874_2572877del | CA2695213156 | KCNQ1 | c.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?) | |
11 | g.2572873T>A | CA379131345 | KCNQ1 | c.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) | |
11 | g.2572873T>C | CA379131347 | KCNQ1 | c.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) | |
11 | g.2572873T>G | CA379131349 | KCNQ1 | c.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) | |
11 | g.2572874T>A | CA379131354 | KCNQ1 | c.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) | |
11 | g.2572874T>C | CA040791 | KCNQ1 | c.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 |
11 | g.2572874T>G | CA379131351 | KCNQ1 | c.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) | |
11 | g.2572874T= | CA1948243183 | KCNQ1 | c.548T= (p.Phe183=) c.478-10561T= (n.478-10561T=) c.809T= (p.Phe270=) c.428T= (p.Phe143=) c.124-10561T= (n.124-10561T=) | |
11 | g.2572874_2572880delinsTCCTGGG | CA1948243184 | KCNQ1 | c.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) | |
11 | g.2572875C>A | CA379131356 | KCNQ1 | c.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) | |
11 | g.2572875C>G | CA379131358 | KCNQ1 | c.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) | |
11 | g.2572875C>T | CA472038143 | KCNQ1 | c.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 |
11 | g.2572878_2572883del | CA916079942 | KCNQ1 | c.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 |
11 | g.2572876C>A | CA379131360 | KCNQ1 | c.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) | |
11 | g.2572876C= | CA1948243185 | KCNQ1 | c.550C= (p.Leu184=) c.478-10559C= (n.478-10559C=) c.811C= (p.Leu271=) c.430C= (p.Leu144=) c.124-10559C= (n.124-10559C=) | |
11 | g.2572876C>G | CA379131362 | KCNQ1 | c.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) | |
11 | g.2572876C>T | CA008310 | KCNQ1 | c.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 |
11 | g.2572877T>A | CA379131370 | KCNQ1 | c.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) | |
11 | g.2572877T>C | CA379131368 | KCNQ1 | c.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) | |
11 | g.2572877T>G | CA379131366 | KCNQ1 | c.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) | |
11 | g.2572878G>A | CA472038144 | KCNQ1 | c.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 |
11 | g.2572878G>C | CA472038145 | KCNQ1 | c.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) | |
11 | g.2572878G>T | CA472038146 | KCNQ1 | c.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) | |
11 | g.2572879G>A | CA040822 | KCNQ1 | c.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 |
11 | g.2572879G>C | CA379131373 | KCNQ1 | c.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) | |
11 | g.2572879G= | CA1948243186 | KCNQ1 | c.553G= (p.Gly185=) c.478-10556G= (n.478-10556G=) c.814G= (p.Gly272=) c.433G= (p.Gly145=) c.124-10556G= (n.124-10556G=) | |
11 | g.2572879G>T | CA379131374 | KCNQ1 | c.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) | |
11 | g.2572880G>A | CA008316 | KCNQ1 | c.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 |
11 | g.2572880G>C | CA379131377 | KCNQ1 | c.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) | |
11 | g.2572880G= | CA1948243187 | KCNQ1 | c.554G= (p.Gly185=) c.478-10555G= (n.478-10555G=) c.815G= (p.Gly272=) c.434G= (p.Gly145=) c.124-10555G= (n.124-10555G=) | |
11 | g.2572880G>T | CA008323 | KCNQ1 | c.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 |
11 | g.2572881C>A | CA472038147 | KCNQ1 | c.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) | |
11 | g.2572881C>G | CA472038148 | KCNQ1 | c.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) | |
11 | g.2572881C>T | CA472038149 | KCNQ1 | c.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) | |
11 | g.2572885_2572895del | CA2695213157 | KCNQ1 | c.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?) | |
11 | g.2572882C>A | CA379131383 | KCNQ1 | c.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 |
11 | g.2572882C= | CA1948243188 | KCNQ1 | c.556C= (p.Leu186=) c.478-10553C= (n.478-10553C=) c.817C= (p.Leu273=) c.436C= (p.Leu146=) c.124-10553C= (n.124-10553C=) | |
11 | g.2572882C>G | CA379131380 | KCNQ1 | c.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 |
11 | g.2572882C>T | CA008331 | KCNQ1 | c.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 |
11 | g.2572883T>A | CA379131385 | KCNQ1 | c.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) | |
11 | g.2572883T>C | CA16613286 | KCNQ1 | c.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 |
11 | g.2572883T>G | CA008339 | KCNQ1 | c.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 |
11 | g.2572883T= | CA1948243189 | KCNQ1 | c.557T= (p.Leu186=) c.478-10552T= (n.478-10552T=) c.818T= (p.Leu273=) c.437T= (p.Leu146=) c.124-10552T= (n.124-10552T=) | |
11 | g.2572884C>A | CA472038152 | KCNQ1 | c.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) | |
11 | g.2572884C>G | CA472038150 | KCNQ1 | c.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) | |
11 | g.2572884C>T | CA472038151 | KCNQ1 | c.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 |
11 | g.2572885A= | CA1948243191 | KCNQ1 | c.559A= (p.Ile187=) c.478-10550A= (n.478-10550A=) c.820A= (p.Ile274=) c.439A= (p.Ile147=) c.124-10550A= (n.124-10550A=) | |
11 | g.2572885A>C | CA379131389 | KCNQ1 | c.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) | |
11 | g.2572885A>G | CA008353 | KCNQ1 | c.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 |
11 | g.2572885A>T | CA379131391 | KCNQ1 | c.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) | |
11 | g.2572885_2572888delinsATCT | CA1948243190 | KCNQ1 | c.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) | |
11 | g.2572886T>A | CA379131392 | KCNQ1 | c.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 |
11 | g.2572886T>C | CA379131394 | KCNQ1 | c.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) | |
11 | g.2572886T>G | CA379131396 | KCNQ1 | c.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) | |
11 | g.2572889_2572891del | CA008360 | KCNQ1 | c.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 |
11 | g.2572887C>A | CA472038153 | KCNQ1 | c.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) | |
11 | g.2572887C>G | CA379131398 | KCNQ1 | c.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 |
11 | g.2572887C>T | CA472038154 | KCNQ1 | c.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) | |
11 | g.2572888T>A | CA379131401 | KCNQ1 | c.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) | |
11 | g.2572888T>C | CA379131403 | KCNQ1 | c.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) | |
11 | g.2572888T>G | CA379131405 | KCNQ1 | c.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) | |
11 | g.2572889T>A | CA379131407 | KCNQ1 | c.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) | |
11 | g.2572889T>C | CA008374 | KCNQ1 | c.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 |
11 | g.2572889T>G | CA379131411 | KCNQ1 | c.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) | |
11 | g.2572889T= | CA1948243192 | KCNQ1 | c.563T= (p.Phe188=) c.478-10546T= (n.478-10546T=) c.824T= (p.Phe275=) c.443T= (p.Phe148=) c.124-10546T= (n.124-10546T=) | |
11 | g.2572889_2572892delinsTCTC | CA1948243193 | KCNQ1 | c.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) | |
11 | g.2572890C>A | CA379131412 | KCNQ1 | c.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) | |
11 | g.2572890C>G | CA379131415 | KCNQ1 | c.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 |
11 | g.2572890C>T | CA472038155 | KCNQ1 | c.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) | |
11 | g.2572890_2572891delinsCT | CA1948243194 | KCNQ1 | c.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) | |
11 | g.2572893_2572895del | CA008383 | KCNQ1 | c.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 |
11 | g.2572891del | CA008398 | KCNQ1 | c.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 |
11 | g.2572891T>A | CA379131419 | KCNQ1 | c.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) | |
11 | g.2572891T>C | CA379131420 | KCNQ1 | c.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) | |
11 | g.2572891T>G | CA379131422 | KCNQ1 | c.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) | |
11 | g.2572892C>A | CA379131424 | KCNQ1 | c.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) | |
11 | g.2572892C= | CA1948243195 | KCNQ1 | c.566C= (p.Ser189=) c.478-10543C= (n.478-10543C=) c.827C= (p.Ser276=) c.446C= (p.Ser149=) c.124-10543C= (n.124-10543C=) | |
11 | g.2572892C>G | CA379131427 | KCNQ1 | c.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) | |
11 | g.2572892C>T | CA008405 | KCNQ1 | c.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 |
11 | g.2572893C>A | CA472038156 | KCNQ1 | c.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) | |
11 | g.2572893C= | CA1948243196 | KCNQ1 | c.567C= (p.Ser189=) c.478-10542C= (n.478-10542C=) c.828C= (p.Ser276=) c.447C= (p.Ser149=) c.124-10542C= (n.124-10542C=) | |
11 | g.2572893C>G | CA472038157 | KCNQ1 | c.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) | |
11 | g.2572893C>T | CA472038158 | KCNQ1 | c.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 |
11 | g.2572894T>A | CA379131429 | KCNQ1 | c.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) | |
11 | g.2572894T>C | CA008421 | KCNQ1 | c.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 |
11 | g.2572894T>G | CA379131432 | KCNQ1 | c.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) | |
11 | g.2572894T= | CA1948243197 | KCNQ1 | c.568T= (p.Ser190=) c.478-10541T= (n.478-10541T=) c.829T= (p.Ser277=) c.448T= (p.Ser150=) c.124-10541T= (n.124-10541T=) | |
11 | g.2572895_2572897del | CA2695213158 | KCNQ1 | c.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) | |
11 | g.2572895C>A | CA379131437 | KCNQ1 | c.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) | |
11 | g.2572895C= | CA1948243198 | KCNQ1 | c.569C= (p.Ser190=) c.478-10540C= (n.478-10540C=) c.830C= (p.Ser277=) c.449C= (p.Ser150=) c.124-10540C= (n.124-10540C=) | |
11 | g.2572895C>G | CA008428 | KCNQ1 | c.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 |
11 | g.2572895C>T | CA008437 | KCNQ1 | c.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 |
11 | g.2572896G>A | CA040883 | KCNQ1 | c.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 |
11 | g.2572896G>C | CA040895 | KCNQ1 | c.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 |
11 | g.2572896G= | CA1948243199 | KCNQ1 | c.570G= (p.Ser190=) c.478-10539G= (n.478-10539G=) c.831G= (p.Ser277=) c.450G= (p.Ser150=) c.124-10539G= (n.124-10539G=) | |
11 | g.2572896G>T | CA472038159 | KCNQ1 | c.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) | |
11 | g.2572897T>A | CA379131442 | KCNQ1 | c.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) | |
11 | g.2572897T>C | CA008446 | KCNQ1 | c.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 |
11 | g.2572897T>G | CA379131445 | KCNQ1 | c.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) | |
11 | g.2572897T= | CA1948243200 | KCNQ1 | c.571T= (p.Tyr191=) c.478-10538T= (n.478-10538T=) c.832T= (p.Tyr278=) c.451T= (p.Tyr151=) c.124-10538T= (n.124-10538T=) | |
11 | g.2572898A>C | CA379131448 | KCNQ1 | c.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) | |
11 | g.2572898A>G | CA379131449 | KCNQ1 | c.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) | |
11 | g.2572898A>T | CA379131451 | KCNQ1 | c.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) | |
11 | g.2572899C>A | CA379131453 | KCNQ1 | c.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) | |
11 | g.2572899C= | CA1948243201 | KCNQ1 | c.573C= (p.Tyr191=) c.478-10536C= (n.478-10536C=) c.834C= (p.Tyr278=) c.453C= (p.Tyr151=) c.124-10536C= (n.124-10536C=) | |
11 | g.2572899C>G | CA379131455 | KCNQ1 | c.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 |
11 | g.2572899C>T | CA472038160 | KCNQ1 | c.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) | |
11 | g.2572900T>A | CA16044372 | KCNQ1 | c.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 |
11 | g.2572900T>C | CA379131456 | KCNQ1 | c.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) | |
11 | g.2572900T>G | CA379131459 | KCNQ1 | c.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) | |
11 | g.2572900T= | CA1948243202 | KCNQ1 | c.574T= (p.Phe192=) c.478-10535T= (n.478-10535T=) c.835T= (p.Phe279=) c.454T= (p.Phe152=) c.124-10535T= (n.124-10535T=) | |
11 | g.2572902dup | CA2573146075 | KCNQ1 | c.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 |
11 | g.2572901T>A | CA379131461 | KCNQ1 | c.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) | |
11 | g.2572901T>C | CA379131465 | KCNQ1 | c.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) | |
11 | g.2572901T>G | CA379131463 | KCNQ1 | c.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 |
11 | g.2572901T= | CA1948243203 | KCNQ1 | c.575T= (p.Phe192=) c.478-10534T= (n.478-10534T=) c.836T= (p.Phe279=) c.455T= (p.Phe152=) c.124-10534T= (n.124-10534T=) | |
11 | g.2572902T>A | CA379131467 | KCNQ1 | c.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) | |
11 | g.2572902T>C | CA472038161 | KCNQ1 | c.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 |
11 | g.2572902T>G | CA379131469 | KCNQ1 | c.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 |
11 | g.2572902_2572903delinsTG | CA1948243204 | KCNQ1 | c.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) | |
11 | g.2572903del | CA674974978 | KCNQ1 | c.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 |
11 | g.2572903G>A | CA379131471 | KCNQ1 | c.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) | |
11 | g.2572903G>C | CA379131473 | KCNQ1 | c.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) | |
11 | g.2572903G>T | CA379131475 | KCNQ1 | c.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) | |
11 | g.2572903dup | CA2840405427 | KCNQ1 | c.577dup (p.Val193GlyfsTer5) c.478-10532dup (n.478-10532dup) c.838dup (p.Val280GlyfsTer5) c.457dup (p.Val153GlyfsTer5) c.124-10532dup (n.124-10532dup) c.577dup (p.Val193GlyfsTer?) | |
11 | g.2572904T>A | CA008454 | KCNQ1 | c.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 |
11 | g.2572904T>C | CA379131479 | KCNQ1 | c.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 |
11 | g.2572904T>G | CA379131481 | KCNQ1 | c.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) | |
11 | g.2572904T= | CA1948243205 | KCNQ1 | c.578T= (p.Val193=) c.478-10531T= (n.478-10531T=) c.839T= (p.Val280=) c.458T= (p.Val153=) c.124-10531T= (n.124-10531T=) | |
11 | g.2572905G>A | CA472038162 | KCNQ1 | c.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) | |
11 | g.2572905G>C | CA472038163 | KCNQ1 | c.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 |
11 | g.2572905G= | CA1948243206 | KCNQ1 | c.579G= (p.Val193=) c.478-10530G= (n.478-10530G=) c.840G= (p.Val280=) c.459G= (p.Val153=) c.124-10530G= (n.124-10530G=) | |
11 | g.2572905G>T | CA472038164 | KCNQ1 | c.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 |
11 | g.2572906T>A | CA379131482 | KCNQ1 | c.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 | |
11 | g.2572906T>C | CA379131484 | KCNQ1 | c.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 | |
11 | g.2572906T>G | CA379131486 | KCNQ1 | c.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 | |
11 | g.2572907A= | CA1948243207 | KCNQ1 | c.581A= (p.Tyr194=) c.478-10528A= (n.478-10528A=) c.842A= (p.Tyr281=) c.461A= (p.Tyr154=) c.124-10528A= (n.124-10528A=) | |
11 | g.2572907A>C | CA379131488 | KCNQ1 | c.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) | |
11 | g.2572907A>G | CA008464 | KCNQ1 | c.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 |
11 | g.2572907A>T | CA379131490 | KCNQ1 | c.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) | |
11 | g.2572908C>A | CA16606921 | KCNQ1 | c.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 |
11 | g.2572908C= | CA1948243208 | KCNQ1 | c.582C= (p.Tyr194=) c.478-10527C= (n.478-10527C=) c.843C= (p.Tyr281=) c.462C= (p.Tyr154=) c.124-10527C= (n.124-10527C=) | |
11 | g.2572908C>G | CA379131492 | KCNQ1 | c.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) | |
11 | g.2572908C>T | CA472038165 | KCNQ1 | c.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 |
11 | g.2572909C>A | CA379131494 | KCNQ1 | c.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) | |
11 | g.2572909C= | CA1948243209 | KCNQ1 | c.583C= (p.Leu195=) c.478-10526C= (n.478-10526C=) c.844C= (p.Leu282=) c.463C= (p.Leu155=) c.124-10526C= (n.124-10526C=) | |
11 | g.2572909C>G | CA216312678 | KCNQ1 | c.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 |
11 | g.2572909C>T | CA472038166 | KCNQ1 | c.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 |
11 | g.2572910T>A | CA379131499 | KCNQ1 | c.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) | |
11 | g.2572910T>C | CA008471 | KCNQ1 | c.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 |
11 | g.2572910T>G | CA379131501 | KCNQ1 | c.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) | |
11 | g.2572910T= | CA1948243210 | KCNQ1 | c.584T= (p.Leu195=) c.478-10525T= (n.478-10525T=) c.845T= (p.Leu282=) c.464T= (p.Leu155=) c.124-10525T= (n.124-10525T=) | |
11 | g.2572911G>A | CA472038169 | KCNQ1 | c.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) | |
11 | g.2572911G>C | CA472038167 | KCNQ1 | c.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) | |
11 | g.2572911G>T | CA472038168 | KCNQ1 | c.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) | |
11 | g.2572912G>A | CA379131503 | KCNQ1 | c.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) | ClinVar |
11 | g.2572912G>C | CA16613511 | KCNQ1 | c.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 |
11 | g.2572912G= | CA1948243211 | KCNQ1 | c.586G= (p.Ala196=) c.478-10523G= (n.478-10523G=) c.847G= (p.Ala283=) c.466G= (p.Ala156=) c.124-10523G= (n.124-10523G=) | |
11 | g.2572912G>T | CA379131505 | KCNQ1 | c.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 |
11 | g.2572913C>A | CA379131506 | KCNQ1 | c.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) | |
11 | g.2572913C= | CA1948243212 | KCNQ1 | c.587C= (p.Ala196=) c.478-10522C= (n.478-10522C=) c.848C= (p.Ala283=) c.467C= (p.Ala156=) c.124-10522C= (n.124-10522C=) | |
11 | g.2572913C>G | CA008478 | KCNQ1 | c.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 |
11 | g.2572913C>T | CA379131509 | KCNQ1 | c.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 |
11 | g.2572914T>A | CA472038170 | KCNQ1 | c.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) | |
11 | g.2572914T>C | CA472038171 | KCNQ1 | c.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) | |
11 | g.2572914T>G | CA472038172 | KCNQ1 | c.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) | |
11 | g.2572914_2572917delinsTGAG | CA1948243213 | KCNQ1 | c.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) | |
11 | g.2572915G>A | CA008486 | KCNQ1 | c.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 |
11 | g.2572915G>C | CA379131515 | KCNQ1 | c.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) | |
11 | g.2572915G= | CA1948243214 | KCNQ1 | c.589G= (p.Glu197=) c.478-10520G= (n.478-10520G=) c.850G= (p.Glu284=) c.469G= (p.Glu157=) c.124-10520G= (n.124-10520G=) | |
11 | g.2572915G>T | CA379131513 | KCNQ1 | c.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) | |
11 | g.2572915_2572917del | CA16619310 | KCNQ1 | c.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 |
11 | g.2572916A= | CA1948212019 | KCNQ1 | c.590A= (p.Glu197=) c.478-10519A= (n.478-10519A=) c.851A= (p.Glu284=) c.470A= (p.Glu157=) c.124-10519A= (n.124-10519A=) | |
11 | g.2572916A>C | CA379131517 | KCNQ1 | c.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) | |
11 | g.2572916A>G | CA379131519 | KCNQ1 | c.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 |
11 | g.2572916A>T | CA379131521 | KCNQ1 | c.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) | |
11 | g.2572917G>A | CA472038173 | KCNQ1 | c.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 |
11 | g.2572917G>C | CA379131523 | KCNQ1 | c.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) | |
11 | g.2572917G= | CA1948212034 | KCNQ1 | c.591G= (p.Glu197=) c.478-10518G= (n.478-10518G=) c.852G= (p.Glu284=) c.471G= (p.Glu157=) c.124-10518G= (n.124-10518G=) | |
11 | g.2572917G>T | CA379131525 | KCNQ1 | c.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) | |
11 | g.2572918A>C | CA379131532 | KCNQ1 | c.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) | |
11 | g.2572918A>G | CA379131530 | KCNQ1 | c.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) | |
11 | g.2572918A>T | CA379131528 | KCNQ1 | c.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) | |
11 | g.2572919dup | CA2840405428 | KCNQ1 | c.593dup (p.Asp199GlyfsTer?) c.478-10516dup (n.478-10516dup) c.854dup (p.Asp286GlyfsTer?) c.473dup (p.Asp159GlyfsTer?) c.124-10516dup (n.124-10516dup) | |
11 | g.2572918_2572926delinsTACTTTGTGTACCTCGTACTTT | CA658655515 | KCNQ1 | c.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) | |
11 | g.2572919A>C | CA379131534 | KCNQ1 | c.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) | |
11 | g.2572919A>G | CA379131536 | KCNQ1 | c.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) | |
11 | g.2572919A>T | CA379131539 | KCNQ1 | c.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) | |
11 | g.2572920G>A | CA040953 | KCNQ1 | c.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 |
11 | g.2572920G>C | CA379131542 | KCNQ1 | c.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) | |
11 | g.2572920G= | CA1948212041 | KCNQ1 | c.594G= (p.Lys198=) c.478-10515G= (n.478-10515G=) c.855G= (p.Lys285=) c.474G= (p.Lys158=) c.124-10515G= (n.124-10515G=) | |
11 | g.2572920G>T | CA379131543 | KCNQ1 | c.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) | |
11 | g.2572921G>A | CA379131546 | KCNQ1 | c.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 |
11 | g.2572921G>C | CA379131544 | KCNQ1 | c.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) | |
11 | g.2572921G>T | CA379131545 | KCNQ1 | c.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) | |
11 | g.2572922A= | CA1948212056 | KCNQ1 | c.596A= (p.Asp199=) c.478-10513A= (n.478-10513A=) c.857A= (p.Asp286=) c.476A= (p.Asp159=) c.124-10513A= (n.124-10513A=) | |
11 | g.2572922A>C | CA379131547 | KCNQ1 | c.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) | |
11 | g.2572922A>G | CA379131548 | KCNQ1 | c.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 |
11 | g.2572922A>T | CA379131549 | KCNQ1 | c.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) | |
11 | g.2572922_2572941delinsACGCGGTGAACGAGTCAGGC | CA1948212052 | KCNQ1 | c.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) | |
11 | g.2572923C>A | CA379131550 | KCNQ1 | c.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 |
11 | g.2572923C= | CA1948212061 | KCNQ1 | c.597C= (p.Asp199=) c.478-10512C= (n.478-10512C=) c.858C= (p.Asp286=) c.477C= (p.Asp159=) c.124-10512C= (n.124-10512C=) | |
11 | g.2572923C>G | CA379131551 | KCNQ1 | c.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 |
11 | g.2572923C>T | CA040965 | KCNQ1 | c.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 |
11 | g.2572927_2572945del | CA008499 | KCNQ1 | c.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 |
11 | g.2572924G>A | CA040978 | KCNQ1 | c.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 |
11 | g.2572924G>C | CA379131552 | KCNQ1 | c.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) | |
11 | g.2572924G= | CA1948212067 | KCNQ1 | c.598G= (p.Ala200=) c.478-10511G= (n.478-10511G=) c.859G= (p.Ala287=) c.478G= (p.Ala160=) c.124-10511G= (n.124-10511G=) | |
11 | g.2572924G>T | CA040994 | KCNQ1 | c.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 |
11 | g.2572925C>A | CA008494 | KCNQ1 | c.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 |
11 | g.2572925C= | CA1948212085 | KCNQ1 | c.599C= (p.Ala200=) c.478-10510C= (n.478-10510C=) c.860C= (p.Ala287=) c.479C= (p.Ala160=) c.124-10510C= (n.124-10510C=) | |
11 | g.2572925C>G | CA379131553 | KCNQ1 | c.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) | |
11 | g.2572925C>T | CA379131554 | KCNQ1 | c.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 |
11 | g.2572926G>A | CA041034 | KCNQ1 | c.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 |
11 | g.2572926G>C | CA472038174 | KCNQ1 | c.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 |
11 | g.2572926G= | CA1948212097 | KCNQ1 | c.600G= (p.Ala200=) c.478-10509G= (n.478-10509G=) c.861G= (p.Ala287=) c.480G= (p.Ala160=) c.124-10509G= (n.124-10509G=) | |
11 | g.2572926G>T | CA472038175 | KCNQ1 | c.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) | |
11 | g.2572927G>A | CA379131556 | KCNQ1 | c.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 |
11 | g.2572927G>C | CA379131555 | KCNQ1 | c.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) | |
11 | g.2572927G= | CA1948212102 | KCNQ1 | c.601G= (p.Val201=) c.478-10508G= (n.478-10508G=) c.862G= (p.Val288=) c.481G= (p.Val161=) c.124-10508G= (n.124-10508G=) | |
11 | g.2572927G>T | CA216312748 | KCNQ1 | c.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 |