Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.223053177C>A | CA351121347 | KCNE4 | c.347C>A (p.Thr116Asn) c.500C>A (p.Thr167Asn) n.75+903C>A | |
2 | g.223053177C>G | CA351121348 | KCNE4 | c.347C>G (p.Thr116Ser) c.500C>G (p.Thr167Ser) n.75+903C>G | |
2 | g.223053177C>T | CA351121349 | KCNE4 | c.347C>T (p.Thr116Ile) c.500C>T (p.Thr167Ile) n.75+903C>T | |
2 | g.223053179dup | CA2842461044 | KCNE4 | c.349dup (p.Leu117ProfsTer30) c.502dup (p.Leu168ProfsTer30) n.75+905dup | |
2 | g.223053178C>A | CA431669536 | KCNE4 | c.348C>A (p.Thr116=) c.501C>A (p.Thr167=) n.75+904C>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.223053178C= | CA1330889669 | KCNE4 | c.348C= (p.Thr116=) c.501C= (p.Thr167=) n.75+904C= | |
2 | g.223053178C>G | CA431669537 | KCNE4 | c.348C>G (p.Thr116=) c.501C>G (p.Thr167=) n.75+904C>G | |
2 | g.223053178C>T | CA431669538 | KCNE4 | c.348C>T (p.Thr116=) c.501C>T (p.Thr167=) n.75+904C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.223053179C>A | CA351121350 | KCNE4 | c.349C>A (p.Leu117Ile) c.502C>A (p.Leu168Ile) n.75+905C>A | |
2 | g.223053179C= | CA1330889670 | KCNE4 | c.349C= (p.Leu117=) c.502C= (p.Leu168=) n.75+905C= | |
2 | g.223053179C>G | CA2137842 | KCNE4 | c.349C>G (p.Leu117Val) c.502C>G (p.Leu168Val) n.75+905C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053179C>T | CA351121351 | KCNE4 | c.349C>T (p.Leu117Phe) c.502C>T (p.Leu168Phe) n.75+905C>T | |
2 | g.223053180T>A | CA351121352 | KCNE4 | c.350T>A (p.Leu117His) c.503T>A (p.Leu168His) n.75+906T>A | |
2 | g.223053180T>C | CA351121353 | KCNE4 | c.350T>C (p.Leu117Pro) c.503T>C (p.Leu168Pro) n.75+906T>C | |
2 | g.223053180T>G | CA351121354 | KCNE4 | c.350T>G (p.Leu117Arg) c.503T>G (p.Leu168Arg) n.75+906T>G | |
2 | g.223053181C>A | CA431669539 | KCNE4 | c.351C>A (p.Leu117=) c.504C>A (p.Leu168=) n.75+907C>A | |
2 | g.223053181C= | CA1330889671 | KCNE4 | c.351C= (p.Leu117=) c.504C= (p.Leu168=) n.75+907C= | |
2 | g.223053181C>G | CA2137844 | KCNE4 | c.351C>G (p.Leu117=) c.504C>G (p.Leu168=) n.75+907C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053181C>T | CA2137843 | KCNE4 | c.351C>T (p.Leu117=) c.504C>T (p.Leu168=) n.75+907C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053182T>A | CA351121355 | KCNE4 | c.352T>A (p.Cys118Ser) c.505T>A (p.Cys169Ser) n.75+908T>A | |
2 | g.223053182T>C | CA351121356 | KCNE4 | c.352T>C (p.Cys118Arg) c.505T>C (p.Cys169Arg) n.75+908T>C | |
2 | g.223053182T>G | CA351121357 | KCNE4 | c.352T>G (p.Cys118Gly) c.505T>G (p.Cys169Gly) n.75+908T>G | gnomAD v4 |
2 | g.223053183G>A | CA351121358 | KCNE4 | c.353G>A (p.Cys118Tyr) c.506G>A (p.Cys169Tyr) n.75+909G>A | gnomAD v4 |
2 | g.223053183G>C | CA351121359 | KCNE4 | c.353G>C (p.Cys118Ser) c.506G>C (p.Cys169Ser) n.75+909G>C | |
2 | g.223053183G>T | CA351121360 | KCNE4 | c.353G>T (p.Cys118Phe) c.506G>T (p.Cys169Phe) n.75+909G>T | |
2 | g.223053184T>A | CA351121361 | KCNE4 | c.354T>A (p.Cys118Ter) c.507T>A (p.Cys169Ter) n.75+910T>A | |
2 | g.223053184T>C | CA431669540 | KCNE4 | c.354T>C (p.Cys118=) c.507T>C (p.Cys169=) n.75+910T>C | dbSNP |
2 | g.223053184T>G | CA351121362 | KCNE4 | c.354T>G (p.Cys118Trp) c.507T>G (p.Cys169Trp) n.75+910T>G | |
2 | g.223053185T>A | CA351121363 | KCNE4 | c.355T>A (p.Ser119Thr) c.508T>A (p.Ser170Thr) n.75+911T>A | |
2 | g.223053185T>C | CA2137845 | KCNE4 | c.355T>C (p.Ser119Pro) c.508T>C (p.Ser170Pro) n.75+911T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053185T>G | CA351121364 | KCNE4 | c.355T>G (p.Ser119Ala) c.508T>G (p.Ser170Ala) n.75+911T>G | |
2 | g.223053185T= | CA1330889672 | KCNE4 | c.355T= (p.Ser119=) c.508T= (p.Ser170=) n.75+911T= | |
2 | g.223053186C>A | CA351121366 | KCNE4 | c.356C>A (p.Ser119Tyr) c.509C>A (p.Ser170Tyr) n.75+912C>A | |
2 | g.223053186C= | CA1330889673 | KCNE4 | c.356C= (p.Ser119=) c.509C= (p.Ser170=) n.75+912C= | |
2 | g.223053186C>G | CA351121367 | KCNE4 | c.356C>G (p.Ser119Cys) c.509C>G (p.Ser170Cys) n.75+912C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053186C>T | CA351121365 | KCNE4 | c.356C>T (p.Ser119Phe) c.509C>T (p.Ser170Phe) n.75+912C>T | |
2 | g.223053187C>A | CA431595293 | KCNE4 | c.357C>A (p.Ser119=) c.510C>A (p.Ser170=) n.75+913C>A | |
2 | g.223053187C>G | CA431595294 | KCNE4 | c.357C>G (p.Ser119=) c.510C>G (p.Ser170=) n.75+913C>G | |
2 | g.223053187C>T | CA431595295 | KCNE4 | c.357C>T (p.Ser119=) c.510C>T (p.Ser170=) n.75+913C>T | |
2 | g.223053188A= | CA1330889674 | KCNE4 | c.358A= (p.Met120=) c.511A= (p.Met171=) n.75+914A= | |
2 | g.223053188A>C | CA351121368 | KCNE4 | c.358A>C (p.Met120Leu) c.511A>C (p.Met171Leu) n.75+914A>C | |
2 | g.223053188A>G | CA351121369 | KCNE4 | c.358A>G (p.Met120Val) c.511A>G (p.Met171Val) n.75+914A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053188A>T | CA351121370 | KCNE4 | c.358A>T (p.Met120Leu) c.511A>T (p.Met171Leu) n.75+914A>T | |
2 | g.223053189T>A | CA351121371 | KCNE4 | c.359T>A (p.Met120Lys) c.512T>A (p.Met171Lys) n.75+915T>A | |
2 | g.223053189T>C | CA351121372 | KCNE4 | c.359T>C (p.Met120Thr) c.512T>C (p.Met171Thr) n.75+915T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053189T>G | CA351121373 | KCNE4 | c.359T>G (p.Met120Arg) c.512T>G (p.Met171Arg) n.75+915T>G | |
2 | g.223053189T= | CA1330889675 | KCNE4 | c.359T= (p.Met120=) c.512T= (p.Met171=) n.75+915T= | |
2 | g.223053190G>A | CA351121374 | KCNE4 | c.360G>A (p.Met120Ile) c.513G>A (p.Met171Ile) n.75+916G>A | dbSNP gnomAD v4 |
2 | g.223053190G>C | CA351121375 | KCNE4 | c.360G>C (p.Met120Ile) c.513G>C (p.Met171Ile) n.75+916G>C | |
2 | g.223053190G= | CA1330889676 | KCNE4 | c.360G= (p.Met120=) c.513G= (p.Met171=) n.75+916G= | |
2 | g.223053190G>T | CA351121376 | KCNE4 | c.360G>T (p.Met120Ile) c.513G>T (p.Met171Ile) n.75+916G>T | |
2 | g.223053191G>A | CA351121377 | KCNE4 | c.361G>A (p.Glu121Lys) c.514G>A (p.Glu172Lys) n.75+917G>A | |
2 | g.223053191G>C | CA351121378 | KCNE4 | c.361G>C (p.Glu121Gln) c.514G>C (p.Glu172Gln) n.75+917G>C | |
2 | g.223053191G>T | CA351121379 | KCNE4 | c.361G>T (p.Glu121Ter) c.514G>T (p.Glu172Ter) n.75+917G>T | gnomAD v4 |
2 | g.223053192A>C | CA351121381 | KCNE4 | c.362A>C (p.Glu121Ala) c.515A>C (p.Glu172Ala) n.75+918A>C | |
2 | g.223053192A>G | CA351121382 | KCNE4 | c.362A>G (p.Glu121Gly) c.515A>G (p.Glu172Gly) n.75+918A>G | |
2 | g.223053192A>T | CA351121380 | KCNE4 | c.362A>T (p.Glu121Val) c.515A>T (p.Glu172Val) n.75+918A>T | |
2 | g.223053193A>C | CA351121383 | KCNE4 | c.363A>C (p.Glu121Asp) c.516A>C (p.Glu172Asp) n.75+919A>C | |
2 | g.223053193A>G | CA431595296 | KCNE4 | c.363A>G (p.Glu121=) c.516A>G (p.Glu172=) n.75+919A>G | |
2 | g.223053193A>T | CA351121384 | KCNE4 | c.363A>T (p.Glu121Asp) c.516A>T (p.Glu172Asp) n.75+919A>T | |
2 | g.223053194G>A | CA351121385 | KCNE4 | c.364G>A (p.Gly122Arg) c.517G>A (p.Gly173Arg) n.75+920G>A | COSMIC |
2 | g.223053194G>C | CA351121386 | KCNE4 | c.364G>C (p.Gly122Arg) c.517G>C (p.Gly173Arg) n.75+920G>C | |
2 | g.223053194G>T | CA351121387 | KCNE4 | c.364G>T (p.Gly122Trp) c.517G>T (p.Gly173Trp) n.75+920G>T | |
2 | g.223053195G>A | CA351121390 | KCNE4 | c.365G>A (p.Gly122Glu) c.518G>A (p.Gly173Glu) n.75+921G>A | dbSNP gnomAD v4 |
2 | g.223053195G>C | CA351121388 | KCNE4 | c.365G>C (p.Gly122Ala) c.518G>C (p.Gly173Ala) n.75+921G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.223053195G= | CA1330889677 | KCNE4 | c.365G= (p.Gly122=) c.518G= (p.Gly173=) n.75+921G= | |
2 | g.223053195G>T | CA351121389 | KCNE4 | c.365G>T (p.Gly122Val) c.518G>T (p.Gly173Val) n.75+921G>T | COSMIC |
2 | g.223053196G>A | CA431595298 | KCNE4 | c.366G>A (p.Gly122=) c.519G>A (p.Gly173=) n.75+922G>A | |
2 | g.223053196G>C | CA431595299 | KCNE4 | c.366G>C (p.Gly122=) c.519G>C (p.Gly173=) n.75+922G>C | |
2 | g.223053196G>T | CA431595300 | KCNE4 | c.366G>T (p.Gly122=) c.519G>T (p.Gly173=) n.75+922G>T | gnomAD v4 |
2 | g.223053197G>A | CA351121391 | KCNE4 | c.367G>A (p.Asp123Asn) c.520G>A (p.Asp174Asn) n.75+923G>A | |
2 | g.223053197G>C | CA351121392 | KCNE4 | c.367G>C (p.Asp123His) c.520G>C (p.Asp174His) n.75+923G>C | |
2 | g.223053197G= | CA1330889678 | KCNE4 | c.367G= (p.Asp123=) c.520G= (p.Asp174=) n.75+923G= | |
2 | g.223053197G>T | CA2137846 | KCNE4 | c.367G>T (p.Asp123Tyr) c.520G>T (p.Asp174Tyr) n.75+923G>T | dbSNP ExAC gnomAD v2 |
2 | g.223053198A>C | CA351121393 | KCNE4 | c.368A>C (p.Asp123Ala) c.521A>C (p.Asp174Ala) n.75+924A>C | |
2 | g.223053198A>G | CA351121394 | KCNE4 | c.368A>G (p.Asp123Gly) c.521A>G (p.Asp174Gly) n.75+924A>G | |
2 | g.223053198A>T | CA351121395 | KCNE4 | c.368A>T (p.Asp123Val) c.521A>T (p.Asp174Val) n.75+924A>T | |
2 | g.223053199C>A | CA351121396 | KCNE4 | c.369C>A (p.Asp123Glu) c.522C>A (p.Asp174Glu) n.75+925C>A | |
2 | g.223053199C>G | CA351121397 | KCNE4 | c.369C>G (p.Asp123Glu) c.522C>G (p.Asp174Glu) n.75+925C>G | |
2 | g.223053199C>T | CA431595301 | KCNE4 | c.369C>T (p.Asp123=) c.522C>T (p.Asp174=) n.75+925C>T | |
2 | g.223053199_223053200delinsCA | CA1330889679 | KCNE4 | c.369_370delinsCA (p.Asp123=) c.522_523delinsCA (p.Asp174=) n.75+925_75+926delinsCA | |
2 | g.223053200del | CA539515959 | KCNE4 | c.370del (p.Ser124AlafsTer2) c.523del (p.Ser175AlafsTer2) n.75+926del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053200A>C | CA351121398 | KCNE4 | c.370A>C (p.Ser124Arg) c.523A>C (p.Ser175Arg) n.75+926A>C | |
2 | g.223053200A>G | CA351121400 | KCNE4 | c.370A>G (p.Ser124Gly) c.523A>G (p.Ser175Gly) n.75+926A>G | |
2 | g.223053200A>T | CA351121399 | KCNE4 | c.370A>T (p.Ser124Cys) c.523A>T (p.Ser175Cys) n.75+926A>T | |
2 | g.223053201G>A | CA351121401 | KCNE4 | c.371G>A (p.Ser124Asn) c.524G>A (p.Ser175Asn) n.75+927G>A | gnomAD v4 |
2 | g.223053201G>C | CA351121402 | KCNE4 | c.371G>C (p.Ser124Thr) c.524G>C (p.Ser175Thr) n.75+927G>C | |
2 | g.223053201G>T | CA351121403 | KCNE4 | c.371G>T (p.Ser124Ile) c.524G>T (p.Ser175Ile) n.75+927G>T | |
2 | g.223053202C>A | CA351121404 | KCNE4 | c.372C>A (p.Ser124Arg) c.525C>A (p.Ser175Arg) n.75+928C>A | |
2 | g.223053202C>G | CA351121405 | KCNE4 | c.372C>G (p.Ser124Arg) c.525C>G (p.Ser175Arg) n.75+928C>G | |
2 | g.223053202C>T | CA431595302 | KCNE4 | c.372C>T (p.Ser124=) c.525C>T (p.Ser175=) n.75+928C>T | gnomAD v4 COSMIC |
2 | g.223053203G>A | CA351121406 | KCNE4 | c.373G>A (p.Val125Met) c.526G>A (p.Val176Met) n.75+929G>A | gnomAD v4 |
2 | g.223053203G>C | CA351121407 | KCNE4 | c.373G>C (p.Val125Leu) c.526G>C (p.Val176Leu) n.75+929G>C | |
2 | g.223053203G>T | CA351121408 | KCNE4 | c.373G>T (p.Val125Leu) c.526G>T (p.Val176Leu) n.75+929G>T | COSMIC |
2 | g.223053204T>A | CA351121409 | KCNE4 | c.374T>A (p.Val125Glu) c.527T>A (p.Val176Glu) n.75+930T>A | |
2 | g.223053204T>C | CA351121410 | KCNE4 | c.374T>C (p.Val125Ala) c.527T>C (p.Val176Ala) n.75+930T>C | dbSNP |
2 | g.223053204T>G | CA351121411 | KCNE4 | c.374T>G (p.Val125Gly) c.527T>G (p.Val176Gly) n.75+930T>G | |
2 | g.223053204T= | CA1330889680 | KCNE4 | c.374T= (p.Val125=) c.527T= (p.Val176=) n.75+930T= | |
2 | g.223053205G>A | CA431595303 | KCNE4 | c.375G>A (p.Val125=) c.528G>A (p.Val176=) n.75+931G>A | |
2 | g.223053205G>C | CA2137847 | KCNE4 | c.375G>C (p.Val125=) c.528G>C (p.Val176=) n.75+931G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053205G= | CA1330889681 | KCNE4 | c.375G= (p.Val125=) c.528G= (p.Val176=) n.75+931G= | |
2 | g.223053205G>T | CA431595304 | KCNE4 | c.375G>T (p.Val125=) c.528G>T (p.Val176=) n.75+931G>T | |
2 | g.223053206A= | CA1330889682 | KCNE4 | c.376A= (p.Ser126=) c.529A= (p.Ser177=) n.75+932A= | |
2 | g.223053206A>C | CA351121414 | KCNE4 | c.376A>C (p.Ser126Arg) c.529A>C (p.Ser177Arg) n.75+932A>C | |
2 | g.223053206A>G | CA351121412 | KCNE4 | c.376A>G (p.Ser126Gly) c.529A>G (p.Ser177Gly) n.75+932A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053206A>T | CA351121413 | KCNE4 | c.376A>T (p.Ser126Cys) c.529A>T (p.Ser177Cys) n.75+932A>T | |
2 | g.223053207G>A | CA351121415 | KCNE4 | c.377G>A (p.Ser126Asn) c.530G>A (p.Ser177Asn) n.75+933G>A | |
2 | g.223053207G>C | CA351121416 | KCNE4 | c.377G>C (p.Ser126Thr) c.530G>C (p.Ser177Thr) n.75+933G>C | |
2 | g.223053207G>T | CA351121417 | KCNE4 | c.377G>T (p.Ser126Ile) c.530G>T (p.Ser177Ile) n.75+933G>T | |
2 | g.223053208C>A | CA351121418 | KCNE4 | c.378C>A (p.Ser126Arg) c.531C>A (p.Ser177Arg) n.75+934C>A | COSMIC |
2 | g.223053208C>G | CA351121419 | KCNE4 | c.378C>G (p.Ser126Arg) c.531C>G (p.Ser177Arg) n.75+934C>G | |
2 | g.223053208C>T | CA431595305 | KCNE4 | c.378C>T (p.Ser126=) c.531C>T (p.Ser177=) n.75+934C>T | |
2 | g.223053209T>A | CA351121420 | KCNE4 | c.379T>A (p.Ser127Thr) c.532T>A (p.Ser178Thr) n.75+935T>A | |
2 | g.223053209T>C | CA351121421 | KCNE4 | c.379T>C (p.Ser127Pro) c.532T>C (p.Ser178Pro) n.75+935T>C | |
2 | g.223053209T>G | CA351121422 | KCNE4 | c.379T>G (p.Ser127Ala) c.532T>G (p.Ser178Ala) n.75+935T>G | |
2 | g.223053210C>A | CA351121423 | KCNE4 | c.380C>A (p.Ser127Tyr) c.533C>A (p.Ser178Tyr) n.75+936C>A | |
2 | g.223053210C>G | CA351121424 | KCNE4 | c.380C>G (p.Ser127Cys) c.533C>G (p.Ser178Cys) n.75+936C>G | |
2 | g.223053210C>T | CA351121425 | KCNE4 | c.380C>T (p.Ser127Phe) c.533C>T (p.Ser178Phe) n.75+936C>T | |
2 | g.223053211C>A | CA431595306 | KCNE4 | c.381C>A (p.Ser127=) c.534C>A (p.Ser178=) n.75+937C>A | |
2 | g.223053211C= | CA1330889683 | KCNE4 | c.381C= (p.Ser127=) c.534C= (p.Ser178=) n.75+937C= | |
2 | g.223053211C>G | CA431595307 | KCNE4 | c.381C>G (p.Ser127=) c.534C>G (p.Ser178=) n.75+937C>G | |
2 | g.223053211C>T | CA431595308 | KCNE4 | c.381C>T (p.Ser127=) c.534C>T (p.Ser178=) n.75+937C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053212G>A | CA351121428 | KCNE4 | c.382G>A (p.Glu128Lys) c.535G>A (p.Glu179Lys) n.75+938G>A | |
2 | g.223053212G>C | CA351121427 | KCNE4 | c.382G>C (p.Glu128Gln) c.535G>C (p.Glu179Gln) n.75+938G>C | |
2 | g.223053212G>T | CA351121426 | KCNE4 | c.382G>T (p.Glu128Ter) c.535G>T (p.Glu179Ter) n.75+938G>T | gnomAD v4 |
2 | g.223053213A>C | CA351121429 | KCNE4 | c.383A>C (p.Glu128Ala) c.536A>C (p.Glu179Ala) n.75+939A>C | gnomAD v4 |
2 | g.223053213A>G | CA351121430 | KCNE4 | c.383A>G (p.Glu128Gly) c.536A>G (p.Glu179Gly) n.75+939A>G | gnomAD v4 |
2 | g.223053213A>T | CA351121431 | KCNE4 | c.383A>T (p.Glu128Val) c.536A>T (p.Glu179Val) n.75+939A>T | |
2 | g.223053214G>A | CA431595309 | KCNE4 | c.384G>A (p.Glu128=) c.537G>A (p.Glu179=) n.75+940G>A | |
2 | g.223053214G>C | CA351121432 | KCNE4 | c.384G>C (p.Glu128Asp) c.537G>C (p.Glu179Asp) n.75+940G>C | gnomAD v4 |
2 | g.223053214G>T | CA351121433 | KCNE4 | c.384G>T (p.Glu128Asp) c.537G>T (p.Glu179Asp) n.75+940G>T | gnomAD v4 |
2 | g.223053214_223053217delinsGTCC | CA1330889684 | KCNE4 | c.384_387delinsGTCC (p.Glu128=) c.537_540delinsGTCC (p.Glu179=) n.75+940_75+943delinsGTCC | |
2 | g.223053215T>A | CA351121434 | KCNE4 | c.385T>A (p.Ser129Thr) c.538T>A (p.Ser180Thr) n.75+941T>A | |
2 | g.223053215T>C | CA351121435 | KCNE4 | c.385T>C (p.Ser129Pro) c.538T>C (p.Ser180Pro) n.75+941T>C | |
2 | g.223053215T>G | CA351121436 | KCNE4 | c.385T>G (p.Ser129Ala) c.538T>G (p.Ser180Ala) n.75+941T>G | |
2 | g.223053221_223053223del | CA2137848 | KCNE4 | c.391_393del (p.Ser131del) c.544_546del (p.Ser182del) n.75+947_75+949del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053216C>A | CA351121437 | KCNE4 | c.386C>A (p.Ser129Tyr) c.539C>A (p.Ser180Tyr) n.75+942C>A | |
2 | g.223053216C>G | CA351121438 | KCNE4 | c.386C>G (p.Ser129Cys) c.539C>G (p.Ser180Cys) n.75+942C>G | gnomAD v4 |
2 | g.223053216C>T | CA351121439 | KCNE4 | c.386C>T (p.Ser129Phe) c.539C>T (p.Ser180Phe) n.75+942C>T | |
2 | g.223053217C>A | CA431595311 | KCNE4 | c.387C>A (p.Ser129=) c.540C>A (p.Ser180=) n.75+943C>A | |
2 | g.223053217C= | CA1330889685 | KCNE4 | c.387C= (p.Ser129=) c.540C= (p.Ser180=) n.75+943C= | |
2 | g.223053217C>G | CA431595312 | KCNE4 | c.387C>G (p.Ser129=) c.540C>G (p.Ser180=) n.75+943C>G | |
2 | g.223053217C>T | CA431595313 | KCNE4 | c.387C>T (p.Ser129=) c.540C>T (p.Ser180=) n.75+943C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053218T>A | CA351121442 | KCNE4 | c.388T>A (p.Ser130Thr) c.541T>A (p.Ser181Thr) n.75+944T>A | |
2 | g.223053218T>C | CA351121440 | KCNE4 | c.388T>C (p.Ser130Pro) c.541T>C (p.Ser181Pro) n.75+944T>C | |
2 | g.223053218T>G | CA351121441 | KCNE4 | c.388T>G (p.Ser130Ala) c.541T>G (p.Ser181Ala) n.75+944T>G | |
2 | g.223053219C>A | CA351121443 | KCNE4 | c.389C>A (p.Ser130Tyr) c.542C>A (p.Ser181Tyr) n.75+945C>A | |
2 | g.223053219C>G | CA351121444 | KCNE4 | c.389C>G (p.Ser130Cys) c.542C>G (p.Ser181Cys) n.75+945C>G | |
2 | g.223053219C>T | CA351121445 | KCNE4 | c.389C>T (p.Ser130Phe) c.542C>T (p.Ser181Phe) n.75+945C>T | COSMIC |
2 | g.223053220C>A | CA431595314 | KCNE4 | c.390C>A (p.Ser130=) c.543C>A (p.Ser181=) n.75+946C>A | |
2 | g.223053220C>G | CA431595315 | KCNE4 | c.390C>G (p.Ser130=) c.543C>G (p.Ser181=) n.75+946C>G | |
2 | g.223053220C>T | CA431595316 | KCNE4 | c.390C>T (p.Ser130=) c.543C>T (p.Ser181=) n.75+946C>T | gnomAD v4 |
2 | g.223053221T>A | CA351121446 | KCNE4 | c.391T>A (p.Ser131Thr) c.544T>A (p.Ser182Thr) n.75+947T>A | |
2 | g.223053221T>C | CA351121447 | KCNE4 | c.391T>C (p.Ser131Pro) c.544T>C (p.Ser182Pro) n.75+947T>C | |
2 | g.223053221T>G | CA351121448 | KCNE4 | c.391T>G (p.Ser131Ala) c.544T>G (p.Ser182Ala) n.75+947T>G | COSMIC |
2 | g.223053222C>A | CA351121449 | KCNE4 | c.392C>A (p.Ser131Tyr) c.545C>A (p.Ser182Tyr) n.75+948C>A | |
2 | g.223053222C= | CA1330889686 | KCNE4 | c.392C= (p.Ser131=) c.545C= (p.Ser182=) n.75+948C= | |
2 | g.223053222C>G | CA351121450 | KCNE4 | c.392C>G (p.Ser131Cys) c.545C>G (p.Ser182Cys) n.75+948C>G | gnomAD v4 |
2 | g.223053222C>T | CA2137849 | KCNE4 | c.392C>T (p.Ser131Phe) c.545C>T (p.Ser182Phe) n.75+948C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.223053225dup | CA2842461045 | KCNE4 | c.395dup (p.Asp133GlyfsTer14) c.548dup (p.Asp184GlyfsTer14) n.75+951dup | |
2 | g.223053225del | CA2842461046 | KCNE4 | c.395del (p.Pro132ArgfsTer?) c.548del (p.Pro183ArgfsTer?) n.75+951del | |
2 | g.223053223C>A | CA431595317 | KCNE4 | c.393C>A (p.Ser131=) c.546C>A (p.Ser182=) n.75+949C>A | |
2 | g.223053223C>G | CA431595319 | KCNE4 | c.393C>G (p.Ser131=) c.546C>G (p.Ser182=) n.75+949C>G | |
2 | g.223053223C>T | CA431595318 | KCNE4 | c.393C>T (p.Ser131=) c.546C>T (p.Ser182=) n.75+949C>T | |
2 | g.223053224C>A | CA351121451 | KCNE4 | c.394C>A (p.Pro132Thr) c.547C>A (p.Pro183Thr) n.75+950C>A | |
2 | g.223053224C>G | CA351121452 | KCNE4 | c.394C>G (p.Pro132Ala) c.547C>G (p.Pro183Ala) n.75+950C>G | |
2 | g.223053224C>T | CA351121453 | KCNE4 | c.394C>T (p.Pro132Ser) c.547C>T (p.Pro183Ser) n.75+950C>T | |
2 | g.223053225C>A | CA351121454 | KCNE4 | c.395C>A (p.Pro132Gln) c.548C>A (p.Pro183Gln) n.75+951C>A | gnomAD v4 COSMIC |
2 | g.223053225C= | CA1330889687 | KCNE4 | c.395C= (p.Pro132=) c.548C= (p.Pro183=) n.75+951C= | |
2 | g.223053225C>G | CA351121456 | KCNE4 | c.395C>G (p.Pro132Arg) c.548C>G (p.Pro183Arg) n.75+951C>G | |
2 | g.223053225C>T | CA351121455 | KCNE4 | c.395C>T (p.Pro132Leu) c.548C>T (p.Pro183Leu) n.75+951C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.223053226G>A | CA431595320 | KCNE4 | c.396G>A (p.Pro132=) c.549G>A (p.Pro183=) n.75+952G>A | dbSNP gnomAD v3 gnomAD v4 |
2 | g.223053226G>C | CA431595321 | KCNE4 | c.396G>C (p.Pro132=) c.549G>C (p.Pro183=) n.75+952G>C | |
2 | g.223053226G= | CA1330889688 | KCNE4 | c.396G= (p.Pro132=) c.549G= (p.Pro183=) n.75+952G= | |
2 | g.223053226G>T | CA431595322 | KCNE4 | c.396G>T (p.Pro132=) c.549G>T (p.Pro183=) n.75+952G>T | |
2 | g.223053227G>A | CA351121457 | KCNE4 | c.397G>A (p.Asp133Asn) c.550G>A (p.Asp184Asn) n.75+953G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053227G>C | CA351121459 | KCNE4 | c.397G>C (p.Asp133His) c.550G>C (p.Asp184His) n.75+953G>C | COSMIC |
2 | g.223053227G= | CA1330889689 | KCNE4 | c.397G= (p.Asp133=) c.550G= (p.Asp184=) n.75+953G= | |
2 | g.223053227G>T | CA351121458 | KCNE4 | c.397G>T (p.Asp133Tyr) c.550G>T (p.Asp184Tyr) n.75+953G>T | |
2 | g.223053228A>C | CA351121460 | KCNE4 | c.398A>C (p.Asp133Ala) c.551A>C (p.Asp184Ala) n.75+954A>C | |
2 | g.223053228A>G | CA351121462 | KCNE4 | c.398A>G (p.Asp133Gly) c.551A>G (p.Asp184Gly) n.75+954A>G | |
2 | g.223053228A>T | CA351121461 | KCNE4 | c.398A>T (p.Asp133Val) c.551A>T (p.Asp184Val) n.75+954A>T | |
2 | g.223053229C>A | CA2137850 | KCNE4 | c.399C>A (p.Asp133Glu) c.552C>A (p.Asp184Glu) n.75+955C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053229C= | CA1330889690 | KCNE4 | c.399C= (p.Asp133=) c.552C= (p.Asp184=) n.75+955C= | |
2 | g.223053229C>G | CA351121463 | KCNE4 | c.399C>G (p.Asp133Glu) c.552C>G (p.Asp184Glu) n.75+955C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053229C>T | CA431595323 | KCNE4 | c.399C>T (p.Asp133=) c.552C>T (p.Asp184=) n.75+955C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053230G>A | CA2137851 | KCNE4 | c.400G>A (p.Val134Met) c.553G>A (p.Val185Met) n.75+956G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053230G>C | CA351121464 | KCNE4 | c.400G>C (p.Val134Leu) c.553G>C (p.Val185Leu) n.75+956G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.223053230G= | CA1330889691 | KCNE4 | c.400G= (p.Val134=) c.553G= (p.Val185=) n.75+956G= | |
2 | g.223053230G>T | CA351121465 | KCNE4 | c.400G>T (p.Val134Leu) c.553G>T (p.Val185Leu) n.75+956G>T | |
2 | g.223053231T>A | CA351121468 | KCNE4 | c.401T>A (p.Val134Glu) c.554T>A (p.Val185Glu) n.75+957T>A | |
2 | g.223053231T>C | CA351121467 | KCNE4 | c.401T>C (p.Val134Ala) c.554T>C (p.Val185Ala) n.75+957T>C | |
2 | g.223053231T>G | CA351121466 | KCNE4 | c.401T>G (p.Val134Gly) c.554T>G (p.Val185Gly) n.75+957T>G | gnomAD v4 |
2 | g.223053232G>A | CA431595324 | KCNE4 | c.402G>A (p.Val134=) c.555G>A (p.Val185=) n.75+958G>A | |
2 | g.223053232G>C | CA431595325 | KCNE4 | c.402G>C (p.Val134=) c.555G>C (p.Val185=) n.75+958G>C | |
2 | g.223053232G>T | CA431595326 | KCNE4 | c.402G>T (p.Val134=) c.555G>T (p.Val185=) n.75+958G>T | |
2 | g.223053233C>A | CA351121469 | KCNE4 | c.403C>A (p.His135Asn) c.556C>A (p.His186Asn) n.75+959C>A | |
2 | g.223053233C>G | CA351121470 | KCNE4 | c.403C>G (p.His135Asp) c.556C>G (p.His186Asp) n.75+959C>G | |
2 | g.223053233C>T | CA351121471 | KCNE4 | c.403C>T (p.His135Tyr) c.556C>T (p.His186Tyr) n.75+959C>T | gnomAD v4 |
2 | g.223053234A>C | CA351121472 | KCNE4 | c.404A>C (p.His135Pro) c.557A>C (p.His186Pro) n.75+960A>C | |
2 | g.223053234A>G | CA351121473 | KCNE4 | c.404A>G (p.His135Arg) c.557A>G (p.His186Arg) n.75+960A>G | |
2 | g.223053234A>T | CA351121474 | KCNE4 | c.404A>T (p.His135Leu) c.557A>T (p.His186Leu) n.75+960A>T | |
2 | g.223053235C>A | CA351121475 | KCNE4 | c.405C>A (p.His135Gln) c.558C>A (p.His186Gln) n.75+961C>A | dbSNP |
2 | g.223053235C= | CA1330889692 | KCNE4 | c.405C= (p.His135=) c.558C= (p.His186=) n.75+961C= | |
2 | g.223053235C>G | CA351121476 | KCNE4 | c.405C>G (p.His135Gln) c.558C>G (p.His186Gln) n.75+961C>G | |
2 | g.223053235C>T | CA2137852 | KCNE4 | c.405C>T (p.His135=) c.558C>T (p.His186=) n.75+961C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053236C>A | CA351121477 | KCNE4 | c.406C>A (p.Leu136Ile) c.559C>A (p.Leu187Ile) n.75+962C>A | |
2 | g.223053236C>G | CA351121478 | KCNE4 | c.406C>G (p.Leu136Val) c.559C>G (p.Leu187Val) n.75+962C>G | |
2 | g.223053236C>T | CA351121479 | KCNE4 | c.406C>T (p.Leu136Phe) c.559C>T (p.Leu187Phe) n.75+962C>T | |
2 | g.223053237T>A | CA351121480 | KCNE4 | c.407T>A (p.Leu136His) c.560T>A (p.Leu187His) n.75+963T>A | |
2 | g.223053237T>C | CA351121481 | KCNE4 | c.407T>C (p.Leu136Pro) c.560T>C (p.Leu187Pro) n.75+963T>C | |
2 | g.223053237T>G | CA351121482 | KCNE4 | c.407T>G (p.Leu136Arg) c.560T>G (p.Leu187Arg) n.75+963T>G | |
2 | g.223053238C>A | CA431595327 | KCNE4 | c.408C>A (p.Leu136=) c.561C>A (p.Leu187=) n.75+964C>A | |
2 | g.223053238C= | CA1330889693 | KCNE4 | c.408C= (p.Leu136=) c.561C= (p.Leu187=) n.75+964C= | |
2 | g.223053238C>G | CA431595328 | KCNE4 | c.408C>G (p.Leu136=) c.561C>G (p.Leu187=) n.75+964C>G | |
2 | g.223053238C>T | CA2137853 | KCNE4 | c.408C>T (p.Leu136=) c.561C>T (p.Leu187=) n.75+964C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053239A>C | CA351121483 | KCNE4 | c.409A>C (p.Thr137Pro) c.562A>C (p.Thr188Pro) n.75+965A>C | |
2 | g.223053239A>G | CA351121484 | KCNE4 | c.409A>G (p.Thr137Ala) c.562A>G (p.Thr188Ala) n.75+965A>G | COSMIC |
2 | g.223053239A>T | CA351121485 | KCNE4 | c.409A>T (p.Thr137Ser) c.562A>T (p.Thr188Ser) n.75+965A>T | |
2 | g.223053240C>A | CA351121486 | KCNE4 | c.410C>A (p.Thr137Asn) c.563C>A (p.Thr188Asn) n.75+966C>A | gnomAD v4 |
2 | g.223053240C= | CA1330889694 | KCNE4 | c.410C= (p.Thr137=) c.563C= (p.Thr188=) n.75+966C= | |
2 | g.223053240C>G | CA351121488 | KCNE4 | c.410C>G (p.Thr137Ser) c.563C>G (p.Thr188Ser) n.75+966C>G | |
2 | g.223053240C>T | CA351121487 | KCNE4 | c.410C>T (p.Thr137Ile) c.563C>T (p.Thr188Ile) n.75+966C>T | dbSNP |
2 | g.223053241C>A | CA431595329 | KCNE4 | c.411C>A (p.Thr137=) c.564C>A (p.Thr188=) n.75+967C>A | |
2 | g.223053241C= | CA1330889695 | KCNE4 | c.411C= (p.Thr137=) c.564C= (p.Thr188=) n.75+967C= | |
2 | g.223053241C>G | CA431595330 | KCNE4 | c.411C>G (p.Thr137=) c.564C>G (p.Thr188=) n.75+967C>G | gnomAD v4 |
2 | g.223053241C>T | CA2137854 | KCNE4 | c.411C>T (p.Thr137=) c.564C>T (p.Thr188=) n.75+967C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053242A>C | CA351121489 | KCNE4 | c.412A>C (p.Ile138Leu) c.565A>C (p.Ile189Leu) n.75+968A>C | |
2 | g.223053242A>G | CA351121490 | KCNE4 | c.412A>G (p.Ile138Val) c.565A>G (p.Ile189Val) n.75+968A>G | gnomAD v4 |
2 | g.223053242A>T | CA351121491 | KCNE4 | c.412A>T (p.Ile138Phe) c.565A>T (p.Ile189Phe) n.75+968A>T | |
2 | g.223053243T>A | CA351121492 | KCNE4 | c.413T>A (p.Ile138Asn) c.566T>A (p.Ile189Asn) n.75+969T>A | |
2 | g.223053243T>C | CA351121493 | KCNE4 | c.413T>C (p.Ile138Thr) c.566T>C (p.Ile189Thr) n.75+969T>C | COSMIC |
2 | g.223053243T>G | CA351121494 | KCNE4 | c.413T>G (p.Ile138Ser) c.566T>G (p.Ile189Ser) n.75+969T>G | |
2 | g.223053244dup | CA2839312173 | KCNE4 | c.414dup (p.Gln139SerfsTer8) c.567dup (p.Gln190SerfsTer8) n.75+970dup | |
2 | g.223053244T>A | CA431595331 | KCNE4 | c.414T>A (p.Ile138=) c.567T>A (p.Ile189=) n.75+970T>A | |
2 | g.223053244T>C | CA431595332 | KCNE4 | c.414T>C (p.Ile138=) c.567T>C (p.Ile189=) n.75+970T>C | |
2 | g.223053244T>G | CA351121495 | KCNE4 | c.414T>G (p.Ile138Met) c.567T>G (p.Ile189Met) n.75+970T>G | |
2 | g.223053245C>A | CA351121496 | KCNE4 | c.415C>A (p.Gln139Lys) c.568C>A (p.Gln190Lys) n.75+971C>A | |
2 | g.223053245C>G | CA351121497 | KCNE4 | c.415C>G (p.Gln139Glu) c.568C>G (p.Gln190Glu) n.75+971C>G | |
2 | g.223053245C>T | CA351121498 | KCNE4 | c.415C>T (p.Gln139Ter) c.568C>T (p.Gln190Ter) n.75+971C>T | |
2 | g.223053245_223053248delinsCAGG | CA1330889696 | KCNE4 | c.415_418delinsCAGG (p.Gln139=) c.568_571delinsCAGG (p.Gln190=) n.75+971_75+974delinsCAGG | |
2 | g.223053246A>C | CA351121501 | KCNE4 | c.416A>C (p.Gln139Pro) c.569A>C (p.Gln190Pro) n.75+972A>C | |
2 | g.223053246A>G | CA351121499 | KCNE4 | c.416A>G (p.Gln139Arg) c.569A>G (p.Gln190Arg) n.75+972A>G | |
2 | g.223053246A>T | CA351121500 | KCNE4 | c.416A>T (p.Gln139Leu) c.569A>T (p.Gln190Leu) n.75+972A>T | |
2 | g.223053252_223053254del | CA539515960 | KCNE4 | c.422_424del (p.Glu141del) c.575_577del (p.Glu192del) n.75+978_75+980del | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053247G>A | CA431595335 | KCNE4 | c.417G>A (p.Gln139=) c.570G>A (p.Gln190=) n.75+973G>A | gnomAD v4 |
2 | g.223053247G>C | CA351121502 | KCNE4 | c.417G>C (p.Gln139His) c.570G>C (p.Gln190His) n.75+973G>C | |
2 | g.223053247G>T | CA351121503 | KCNE4 | c.417G>T (p.Gln139His) c.570G>T (p.Gln190His) n.75+973G>T | COSMIC |
2 | g.223053248G>A | CA351121504 | KCNE4 | c.418G>A (p.Glu140Lys) c.571G>A (p.Glu191Lys) n.75+974G>A | |
2 | g.223053248G>C | CA351121505 | KCNE4 | c.418G>C (p.Glu140Gln) c.571G>C (p.Glu191Gln) n.75+974G>C | |
2 | g.223053248G>T | CA351121506 | KCNE4 | c.418G>T (p.Glu140Ter) c.571G>T (p.Glu191Ter) n.75+974G>T | |
2 | g.223053249A>C | CA351121507 | KCNE4 | c.419A>C (p.Glu140Ala) c.572A>C (p.Glu191Ala) n.75+975A>C | |
2 | g.223053249A>G | CA351121508 | KCNE4 | c.419A>G (p.Glu140Gly) c.572A>G (p.Glu191Gly) n.75+975A>G | |
2 | g.223053249A>T | CA351121509 | KCNE4 | c.419A>T (p.Glu140Val) c.572A>T (p.Glu191Val) n.75+975A>T | |
2 | g.223053250G>A | CA2137855 | KCNE4 | c.420G>A (p.Glu140=) c.573G>A (p.Glu191=) n.75+976G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053250G>C | CA351121510 | KCNE4 | c.420G>C (p.Glu140Asp) c.573G>C (p.Glu191Asp) n.75+976G>C | |
2 | g.223053250G= | CA1330889697 | KCNE4 | c.420G= (p.Glu140=) c.573G= (p.Glu191=) n.75+976G= | |
2 | g.223053250G>T | CA351121511 | KCNE4 | c.420G>T (p.Glu140Asp) c.573G>T (p.Glu191Asp) n.75+976G>T | |
2 | g.223053251dup | CA2838307375 | KCNE4 | c.421dup (p.Glu141GlyfsTer6) c.574dup (p.Glu192GlyfsTer6) n.75+977dup | |
2 | g.223053251G>A | CA351121513 | KCNE4 | c.421G>A (p.Glu141Lys) c.574G>A (p.Glu192Lys) n.75+977G>A | |
2 | g.223053251G>C | CA351121514 | KCNE4 | c.421G>C (p.Glu141Gln) c.574G>C (p.Glu192Gln) n.75+977G>C | |
2 | g.223053251G>T | CA351121512 | KCNE4 | c.421G>T (p.Glu141Ter) c.574G>T (p.Glu192Ter) n.75+977G>T | |
2 | g.223053252A= | CA1330889698 | KCNE4 | c.422A= (p.Glu141=) c.575A= (p.Glu192=) n.75+978A= | |
2 | g.223053252A>C | CA2137856 | KCNE4 | c.422A>C (p.Glu141Ala) c.575A>C (p.Glu192Ala) n.75+978A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053252A>G | CA351121515 | KCNE4 | c.422A>G (p.Glu141Gly) c.575A>G (p.Glu192Gly) n.75+978A>G | |
2 | g.223053252A>T | CA351121516 | KCNE4 | c.422A>T (p.Glu141Val) c.575A>T (p.Glu192Val) n.75+978A>T | |
2 | g.223053253G>A | CA431595336 | KCNE4 | c.423G>A (p.Glu141=) c.576G>A (p.Glu192=) n.75+979G>A | |
2 | g.223053253G>C | CA351121517 | KCNE4 | c.423G>C (p.Glu141Asp) c.576G>C (p.Glu192Asp) n.75+979G>C | |
2 | g.223053253G>T | CA351121518 | KCNE4 | c.423G>T (p.Glu141Asp) c.576G>T (p.Glu192Asp) n.75+979G>T | |
2 | g.223053257dup | CA2842461047 | KCNE4 | c.427dup (p.Ala143GlyfsTer4) c.580dup (p.Ala194GlyfsTer4) n.75+983dup | |
2 | g.223053256_223053257dup | CA2663344329 | KCNE4 | c.426_427dup (p.Ala143GlyfsTer?) c.579_580dup (p.Ala194GlyfsTer?) n.75+982_75+983dup | gnomAD v4 |
2 | g.223053254G>A | CA351121519 | KCNE4 | c.424G>A (p.Gly142Arg) c.577G>A (p.Gly193Arg) n.75+980G>A | |
2 | g.223053254G>C | CA2137857 | KCNE4 | c.424G>C (p.Gly142Arg) c.577G>C (p.Gly193Arg) n.75+980G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053254G= | CA1330889699 | KCNE4 | c.424G= (p.Gly142=) c.577G= (p.Gly193=) n.75+980G= | |
2 | g.223053254G>T | CA351121520 | KCNE4 | c.424G>T (p.Gly142Trp) c.577G>T (p.Gly193Trp) n.75+980G>T | |
2 | g.223053255G>A | CA351121521 | KCNE4 | c.425G>A (p.Gly142Glu) c.578G>A (p.Gly193Glu) n.75+981G>A | |
2 | g.223053255G>C | CA351121522 | KCNE4 | c.425G>C (p.Gly142Ala) c.578G>C (p.Gly193Ala) n.75+981G>C | |
2 | g.223053255G>T | CA351121523 | KCNE4 | c.425G>T (p.Gly142Val) c.578G>T (p.Gly193Val) n.75+981G>T | |
2 | g.223053256G>A | CA431595337 | KCNE4 | c.426G>A (p.Gly142=) c.579G>A (p.Gly193=) n.75+982G>A | dbSNP gnomAD v4 |
2 | g.223053256G>C | CA431595338 | KCNE4 | c.426G>C (p.Gly142=) c.579G>C (p.Gly193=) n.75+982G>C | |
2 | g.223053256G= | CA1330889700 | KCNE4 | c.426G= (p.Gly142=) c.579G= (p.Gly193=) n.75+982G= | |
2 | g.223053256G>T | CA431595339 | KCNE4 | c.426G>T (p.Gly142=) c.579G>T (p.Gly193=) n.75+982G>T | |
2 | g.223053257G>A | CA351121526 | KCNE4 | c.427G>A (p.Ala143Thr) c.580G>A (p.Ala194Thr) n.75+983G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053257G>C | CA351121525 | KCNE4 | c.427G>C (p.Ala143Pro) c.580G>C (p.Ala194Pro) n.75+983G>C | |
2 | g.223053257G= | CA1330889701 | KCNE4 | c.427G= (p.Ala143=) c.580G= (p.Ala194=) n.75+983G= | |
2 | g.223053257G>T | CA351121524 | KCNE4 | c.427G>T (p.Ala143Ser) c.580G>T (p.Ala194Ser) n.75+983G>T | dbSNP |
2 | g.223053258C>A | CA351121527 | KCNE4 | c.428C>A (p.Ala143Glu) c.581C>A (p.Ala194Glu) n.75+984C>A | |
2 | g.223053258C= | CA1330889702 | KCNE4 | c.428C= (p.Ala143=) c.581C= (p.Ala194=) n.75+984C= | |
2 | g.223053258C>G | CA351121528 | KCNE4 | c.428C>G (p.Ala143Gly) c.581C>G (p.Ala194Gly) n.75+984C>G | |
2 | g.223053258C>T | CA351121529 | KCNE4 | c.428C>T (p.Ala143Val) c.581C>T (p.Ala194Val) n.75+984C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053259A= | CA1330889703 | KCNE4 | c.429A= (p.Ala143=) c.582A= (p.Ala194=) n.75+985A= | |
2 | g.223053259A>C | CA431595340 | KCNE4 | c.429A>C (p.Ala143=) c.582A>C (p.Ala194=) n.75+985A>C | dbSNP |
2 | g.223053259A>G | CA431595341 | KCNE4 | c.429A>G (p.Ala143=) c.582A>G (p.Ala194=) n.75+985A>G | |
2 | g.223053259A>T | CA2137858 | KCNE4 | c.429A>T (p.Ala143=) c.582A>T (p.Ala194=) n.75+985A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.223053260G>A | CA351121530 | KCNE4 | c.430G>A (p.Asp144Asn) c.583G>A (p.Asp195Asn) n.75+986G>A | |
2 | g.223053260G>C | CA351121531 | KCNE4 | c.430G>C (p.Asp144His) c.583G>C (p.Asp195His) n.75+986G>C | |
2 | g.223053260G>T | CA351121532 | KCNE4 | c.430G>T (p.Asp144Tyr) c.583G>T (p.Asp195Tyr) n.75+986G>T | |
2 | g.223053261A= | CA1330889704 | KCNE4 | c.431A= (p.Asp144=) c.584A= (p.Asp195=) n.75+987A= | |
2 | g.223053261A>C | CA351121533 | KCNE4 | c.431A>C (p.Asp144Ala) c.584A>C (p.Asp195Ala) n.75+987A>C | |
2 | g.223053261A>G | CA351121534 | KCNE4 | c.431A>G (p.Asp144Gly) c.584A>G (p.Asp195Gly) n.75+987A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053261A>T | CA351121535 | KCNE4 | c.431A>T (p.Asp144Val) c.584A>T (p.Asp195Val) n.75+987A>T | |
2 | g.223053262C>A | CA351121536 | KCNE4 | c.432C>A (p.Asp144Glu) c.585C>A (p.Asp195Glu) n.75+988C>A | |
2 | g.223053262C= | CA1330889706 | KCNE4 | c.432C= (p.Asp144=) c.585C= (p.Asp195=) n.75+988C= | |
2 | g.223053262C>G | CA351121537 | KCNE4 | c.432C>G (p.Asp144Glu) c.585C>G (p.Asp195Glu) n.75+988C>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.223053262C>T | CA431595342 | KCNE4 | c.432C>T (p.Asp144=) c.585C>T (p.Asp195=) n.75+988C>T | gnomAD v4 |
2 | g.223053262_223053265delinsCGAT | CA1330889705 | KCNE4 | c.432_435delinsCGAT (p.Asp144=) c.585_588delinsCGAT (p.Asp195=) n.75+988_75+991delinsCGAT | |
2 | g.223053263G>A | CA351121539 | KCNE4 | c.433G>A (p.Asp145Asn) c.586G>A (p.Asp196Asn) n.75+989G>A | dbSNP gnomAD v4 |
2 | g.223053263G>C | CA351121540 | KCNE4 | c.433G>C (p.Asp145His) c.586G>C (p.Asp196His) n.75+989G>C | |
2 | g.223053263G= | CA1330889707 | KCNE4 | c.433G= (p.Asp145=) c.586G= (p.Asp196=) n.75+989G= | |
2 | g.223053263G>T | CA351121538 | KCNE4 | c.433G>T (p.Asp145Tyr) c.586G>T (p.Asp196Tyr) n.75+989G>T | gnomAD v4 |
2 | g.223053265_223053267del | CA2137859 | KCNE4 | c.435_437del (p.Asp145del) c.588_590del (p.Asp196del) n.75+991_75+993del | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053264A>C | CA351121541 | KCNE4 | c.434A>C (p.Asp145Ala) c.587A>C (p.Asp196Ala) n.75+990A>C | |
2 | g.223053264A>G | CA351121542 | KCNE4 | c.434A>G (p.Asp145Gly) c.587A>G (p.Asp196Gly) n.75+990A>G | |
2 | g.223053264A>T | CA351121543 | KCNE4 | c.434A>T (p.Asp145Val) c.587A>T (p.Asp196Val) n.75+990A>T | |
2 | g.223053265T>A | CA351121544 | KCNE4 | c.435T>A (p.Asp145Glu) c.588T>A (p.Asp196Glu) n.75+991T>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053265T>C | CA431595344 | KCNE4 | c.435T>C (p.Asp145=) c.588T>C (p.Asp196=) n.75+991T>C | dbSNP |
2 | g.223053265T>G | CA2137860 | KCNE4 | c.435T>G (p.Asp145Glu) c.588T>G (p.Asp196Glu) n.75+991T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053265T= | CA1330889708 | KCNE4 | c.435T= (p.Asp145=) c.588T= (p.Asp196=) n.75+991T= | |
2 | g.223053266G>A | CA351121545 | KCNE4 | c.436G>A (p.Glu146Lys) c.589G>A (p.Glu197Lys) n.75+992G>A | dbSNP gnomAD v2 |
2 | g.223053266G>C | CA351121546 | KCNE4 | c.436G>C (p.Glu146Gln) c.589G>C (p.Glu197Gln) n.75+992G>C | |
2 | g.223053266G= | CA1330889709 | KCNE4 | c.436G= (p.Glu146=) c.589G= (p.Glu197=) n.75+992G= | |
2 | g.223053266G>T | CA351121547 | KCNE4 | c.436G>T (p.Glu146Ter) c.589G>T (p.Glu197Ter) n.75+992G>T | |
2 | g.223053267A>C | CA351121548 | KCNE4 | c.437A>C (p.Glu146Ala) c.590A>C (p.Glu197Ala) n.75+993A>C | |
2 | g.223053267A>G | CA351121549 | KCNE4 | c.437A>G (p.Glu146Gly) c.590A>G (p.Glu197Gly) n.75+993A>G | gnomAD v4 |
2 | g.223053267A>T | CA351121550 | KCNE4 | c.437A>T (p.Glu146Val) c.590A>T (p.Glu197Val) n.75+993A>T | |
2 | g.223053268G>A | CA431595345 | KCNE4 | c.438G>A (p.Glu146=) c.591G>A (p.Glu197=) n.75+994G>A | |
2 | g.223053268G>C | CA351121551 | KCNE4 | c.438G>C (p.Glu146Asp) c.591G>C (p.Glu197Asp) n.75+994G>C | |
2 | g.223053268G>T | CA351121552 | KCNE4 | c.438G>T (p.Glu146Asp) c.591G>T (p.Glu197Asp) n.75+994G>T | |
2 | g.223053269C>A | CA351121554 | KCNE4 | c.439C>A (p.Leu147Met) c.592C>A (p.Leu198Met) n.75+995C>A | dbSNP |
2 | g.223053269C= | CA1330889710 | KCNE4 | c.439C= (p.Leu147=) c.592C= (p.Leu198=) n.75+995C= | |
2 | g.223053269C>G | CA351121553 | KCNE4 | c.439C>G (p.Leu147Val) c.592C>G (p.Leu198Val) n.75+995C>G | |
2 | g.223053269C>T | CA431595346 | KCNE4 | c.439C>T (p.Leu147=) c.592C>T (p.Leu198=) n.75+995C>T | |
2 | g.223053270T>A | CA351121555 | KCNE4 | c.440T>A (p.Leu147Gln) c.593T>A (p.Leu198Gln) n.75+996T>A | |
2 | g.223053270T>C | CA351121556 | KCNE4 | c.440T>C (p.Leu147Pro) c.593T>C (p.Leu198Pro) n.75+996T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053270T>G | CA351121557 | KCNE4 | c.440T>G (p.Leu147Arg) c.593T>G (p.Leu198Arg) n.75+996T>G | |
2 | g.223053270T= | CA1330889711 | KCNE4 | c.440T= (p.Leu147=) c.593T= (p.Leu198=) n.75+996T= | |
2 | g.223053271G>A | CA2137861 | KCNE4 | c.441G>A (p.Leu147=) c.594G>A (p.Leu198=) n.75+997G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.223053271G>C | CA431595348 | KCNE4 | c.441G>C (p.Leu147=) c.594G>C (p.Leu198=) n.75+997G>C | |
2 | g.223053271G= | CA1330889712 | KCNE4 | c.441G= (p.Leu147=) c.594G= (p.Leu198=) n.75+997G= | |
2 | g.223053271G>T | CA431595347 | KCNE4 | c.441G>T (p.Leu147=) c.594G>T (p.Leu198=) n.75+997G>T | |
2 | g.223053272G>A | CA351121558 | KCNE4 | c.442G>A (p.Glu148Lys) c.595G>A (p.Glu199Lys) n.75+998G>A | |
2 | g.223053272G>C | CA351121559 | KCNE4 | c.442G>C (p.Glu148Gln) c.595G>C (p.Glu199Gln) n.75+998G>C | |
2 | g.223053272G= | CA1330889713 | KCNE4 | c.442G= (p.Glu148=) c.595G= (p.Glu199=) n.75+998G= | |
2 | g.223053272G>T | CA66396450 | KCNE4 | c.442G>T (p.Glu148Ter) c.595G>T (p.Glu199Ter) n.75+998G>T | dbSNP |
2 | g.223053273A>C | CA351121560 | KCNE4 | c.443A>C (p.Glu148Ala) c.596A>C (p.Glu199Ala) n.75+999A>C | |
2 | g.223053273A>G | CA351121562 | KCNE4 | c.443A>G (p.Glu148Gly) c.596A>G (p.Glu199Gly) n.75+999A>G | |
2 | g.223053273A>T | CA351121561 | KCNE4 | c.443A>T (p.Glu148Val) c.596A>T (p.Glu199Val) n.75+999A>T | gnomAD v4 |
2 | g.223053274G>A | CA431595349 | KCNE4 | c.444G>A (p.Glu148=) c.597G>A (p.Glu199=) n.75+1000G>A | |
2 | g.223053274G>C | CA351121563 | KCNE4 | c.444G>C (p.Glu148Asp) c.597G>C (p.Glu199Asp) n.75+1000G>C | |
2 | g.223053274G>T | CA351121564 | KCNE4 | c.444G>T (p.Glu148Asp) c.597G>T (p.Glu199Asp) n.75+1000G>T | |
2 | g.223053275G>A | CA351121565 | KCNE4 | c.445G>A (p.Glu149Lys) c.598G>A (p.Glu200Lys) n.75+1001G>A | COSMIC |
2 | g.223053275G>C | CA351121566 | KCNE4 | c.445G>C (p.Glu149Gln) c.598G>C (p.Glu200Gln) n.75+1001G>C | |
2 | g.223053275G>T | CA351121567 | KCNE4 | c.445G>T (p.Glu149Ter) c.598G>T (p.Glu200Ter) n.75+1001G>T | |
2 | g.223053276A>C | CA351121569 | KCNE4 | c.446A>C (p.Glu149Ala) c.599A>C (p.Glu200Ala) n.75+1002A>C | |
2 | g.223053276A>G | CA351121570 | KCNE4 | c.446A>G (p.Glu149Gly) c.599A>G (p.Glu200Gly) n.75+1002A>G | |
2 | g.223053276A>T | CA351121568 | KCNE4 | c.446A>T (p.Glu149Val) c.599A>T (p.Glu200Val) n.75+1002A>T | |
2 | g.223053277G>A | CA431595350 | KCNE4 | c.447G>A (p.Glu149=) c.600G>A (p.Glu200=) n.75+1003G>A | gnomAD v4 COSMIC |
2 | g.223053277G>C | CA351121572 | KCNE4 | c.447G>C (p.Glu149Asp) c.600G>C (p.Glu200Asp) n.75+1003G>C | |
2 | g.223053277G>T | CA351121571 | KCNE4 | c.447G>T (p.Glu149Asp) c.600G>T (p.Glu200Asp) n.75+1003G>T |