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