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