Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38566525C>A | CA352149282 | SCN5A | c.3721G>T (p.Ala1241Ser) c.3724G>T (p.Ala1242Ser) c.3562G>T (p.Ala1188Ser) c.3595G>T (p.Ala1199Ser) | |
3 | g.38566525C>G | CA352149284 | SCN5A | c.3721G>C (p.Ala1241Pro) c.3724G>C (p.Ala1242Pro) c.3562G>C (p.Ala1188Pro) c.3595G>C (p.Ala1199Pro) | |
3 | g.38566525C>T | CA352149285 | SCN5A | c.3721G>A (p.Ala1241Thr) c.3724G>A (p.Ala1242Thr) c.3562G>A (p.Ala1188Thr) c.3595G>A (p.Ala1199Thr) | |
3 | g.38566526A= | CA1358569713 | SCN5A | c.3720T= (p.Tyr1240=) c.3723T= (p.Tyr1241=) c.3561T= (p.Tyr1187=) c.3594T= (p.Tyr1198=) | |
3 | g.38566526A>C | CA352149286 | SCN5A | c.3720T>G (p.Tyr1240Ter) c.3723T>G (p.Tyr1241Ter) c.3561T>G (p.Tyr1187Ter) c.3594T>G (p.Tyr1198Ter) | |
3 | g.38566526A>G | CA433136869 | SCN5A | c.3720T>C (p.Tyr1240=) c.3723T>C (p.Tyr1241=) c.3561T>C (p.Tyr1187=) c.3594T>C (p.Tyr1198=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566526A>T | CA352149287 | SCN5A | c.3720T>A (p.Tyr1240Ter) c.3723T>A (p.Tyr1241Ter) c.3561T>A (p.Tyr1187Ter) c.3594T>A (p.Tyr1198Ter) | |
3 | g.38566527T>A | CA352149292 | SCN5A | c.3719A>T (p.Tyr1240Phe) c.3722A>T (p.Tyr1241Phe) c.3560A>T (p.Tyr1187Phe) c.3593A>T (p.Tyr1198Phe) | |
3 | g.38566527T>C | CA352149290 | SCN5A | c.3719A>G (p.Tyr1240Cys) c.3722A>G (p.Tyr1241Cys) c.3560A>G (p.Tyr1187Cys) c.3593A>G (p.Tyr1198Cys) | ClinVar dbSNP gnomAD v4 |
3 | g.38566527T>G | CA017466 | SCN5A | c.3719A>C (p.Tyr1240Ser) c.3722A>C (p.Tyr1241Ser) c.3560A>C (p.Tyr1187Ser) c.3593A>C (p.Tyr1198Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38566527T= | CA1358569716 | SCN5A | c.3719A= (p.Tyr1240=) c.3722A= (p.Tyr1241=) c.3560A= (p.Tyr1187=) c.3593A= (p.Tyr1198=) | |
3 | g.38566528A>C | CA352149294 | SCN5A | c.3718T>G (p.Tyr1240Asp) c.3721T>G (p.Tyr1241Asp) c.3559T>G (p.Tyr1187Asp) c.3592T>G (p.Tyr1198Asp) | |
3 | g.38566528A>G | CA352149296 | SCN5A | c.3718T>C (p.Tyr1240His) c.3721T>C (p.Tyr1241His) c.3559T>C (p.Tyr1187His) c.3592T>C (p.Tyr1198His) | |
3 | g.38566528A>T | CA352149298 | SCN5A | c.3718T>A (p.Tyr1240Asn) c.3721T>A (p.Tyr1241Asn) c.3559T>A (p.Tyr1187Asn) c.3592T>A (p.Tyr1198Asn) | COSMIC |
3 | g.38566529C>A | CA352149300 | SCN5A | c.3717G>T (p.Glu1239Asp) c.3720G>T (p.Glu1240Asp) c.3558G>T (p.Glu1186Asp) c.3591G>T (p.Glu1197Asp) | |
3 | g.38566529C>G | CA352149301 | SCN5A | c.3717G>C (p.Glu1239Asp) c.3720G>C (p.Glu1240Asp) c.3558G>C (p.Glu1186Asp) c.3591G>C (p.Glu1197Asp) | |
3 | g.38566529C>T | CA433136878 | SCN5A | c.3717G>A (p.Glu1239=) c.3720G>A (p.Glu1240=) c.3558G>A (p.Glu1186=) c.3591G>A (p.Glu1197=) | |
3 | g.38566530T>A | CA352149304 | SCN5A | c.3716A>T (p.Glu1239Val) c.3719A>T (p.Glu1240Val) c.3557A>T (p.Glu1186Val) c.3590A>T (p.Glu1197Val) | |
3 | g.38566530T>C | CA352149306 | SCN5A | c.3716A>G (p.Glu1239Gly) c.3719A>G (p.Glu1240Gly) c.3557A>G (p.Glu1186Gly) c.3590A>G (p.Glu1197Gly) | |
3 | g.38566530T>G | CA352149308 | SCN5A | c.3716A>C (p.Glu1239Ala) c.3719A>C (p.Glu1240Ala) c.3557A>C (p.Glu1186Ala) c.3590A>C (p.Glu1197Ala) | dbSNP |
3 | g.38566530T= | CA1358569721 | SCN5A | c.3716A= (p.Glu1239=) c.3719A= (p.Glu1240=) c.3557A= (p.Glu1186=) c.3590A= (p.Glu1197=) | |
3 | g.38566531C>A | CA352149310 | SCN5A | c.3715G>T (p.Glu1239Ter) c.3718G>T (p.Glu1240Ter) c.3556G>T (p.Glu1186Ter) c.3589G>T (p.Glu1197Ter) | dbSNP |
3 | g.38566531C= | CA1358569731 | SCN5A | c.3715G= (p.Glu1239=) c.3718G= (p.Glu1240=) c.3556G= (p.Glu1186=) c.3589G= (p.Glu1197=) | |
3 | g.38566531C>G | CA017461 | SCN5A | c.3715G>C (p.Glu1239Gln) c.3718G>C (p.Glu1240Gln) c.3556G>C (p.Glu1186Gln) c.3589G>C (p.Glu1197Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566531C>T | CA352149312 | SCN5A | c.3715G>A (p.Glu1239Lys) c.3718G>A (p.Glu1240Lys) c.3556G>A (p.Glu1186Lys) c.3589G>A (p.Glu1197Lys) | |
3 | g.38566532A>C | CA433136881 | SCN5A | c.3714T>G (p.Leu1238=) c.3717T>G (p.Leu1239=) c.3555T>G (p.Leu1185=) c.3588T>G (p.Leu1196=) | gnomAD v4 |
3 | g.38566532A>G | CA433136884 | SCN5A | c.3714T>C (p.Leu1238=) c.3717T>C (p.Leu1239=) c.3555T>C (p.Leu1185=) c.3588T>C (p.Leu1196=) | |
3 | g.38566532A>T | CA433136883 | SCN5A | c.3714T>A (p.Leu1238=) c.3717T>A (p.Leu1239=) c.3555T>A (p.Leu1185=) c.3588T>A (p.Leu1196=) | |
3 | g.38566533del | CA2577553238 | SCN5A | c.3714del (p.Glu1239SerfsTer?) c.3717del (p.Glu1240SerfsTer?) c.3555del (p.Glu1186SerfsTer?) c.3588del (p.Glu1197SerfsTer?) | |
3 | g.38566533A= | CA1358569733 | SCN5A | c.3713T= (p.Leu1238=) c.3716T= (p.Leu1239=) c.3554T= (p.Leu1185=) c.3587T= (p.Leu1196=) | |
3 | g.38566533A>C | CA352149314 | SCN5A | c.3713T>G (p.Leu1238Arg) c.3716T>G (p.Leu1239Arg) c.3554T>G (p.Leu1185Arg) c.3587T>G (p.Leu1196Arg) | |
3 | g.38566533A>G | CA017455 | SCN5A | c.3713T>C (p.Leu1238Pro) c.3716T>C (p.Leu1239Pro) c.3554T>C (p.Leu1185Pro) c.3587T>C (p.Leu1196Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566533A>T | CA352149316 | SCN5A | c.3713T>A (p.Leu1238His) c.3716T>A (p.Leu1239His) c.3554T>A (p.Leu1185His) c.3587T>A (p.Leu1196His) | |
3 | g.38566534G>A | CA352149322 | SCN5A | c.3712C>T (p.Leu1238Phe) c.3715C>T (p.Leu1239Phe) c.3553C>T (p.Leu1185Phe) c.3586C>T (p.Leu1196Phe) | gnomAD v4 |
3 | g.38566534G>C | CA352149320 | SCN5A | c.3712C>G (p.Leu1238Val) c.3715C>G (p.Leu1239Val) c.3553C>G (p.Leu1185Val) c.3586C>G (p.Leu1196Val) | |
3 | g.38566534G>T | CA352149319 | SCN5A | c.3712C>A (p.Leu1238Ile) c.3715C>A (p.Leu1239Ile) c.3553C>A (p.Leu1185Ile) c.3586C>A (p.Leu1196Ile) | |
3 | g.38566535C>A | CA433136888 | SCN5A | c.3711G>T (p.Leu1237=) c.3714G>T (p.Leu1238=) c.3552G>T (p.Leu1184=) c.3585G>T (p.Leu1195=) | |
3 | g.38566535C= | CA1358569738 | SCN5A | c.3711G= (p.Leu1237=) c.3714G= (p.Leu1238=) c.3552G= (p.Leu1184=) c.3585G= (p.Leu1195=) | |
3 | g.38566535C>G | CA433136890 | SCN5A | c.3711G>C (p.Leu1237=) c.3714G>C (p.Leu1238=) c.3552G>C (p.Leu1184=) c.3585G>C (p.Leu1195=) | |
3 | g.38566535C>T | CA433136889 | SCN5A | c.3711G>A (p.Leu1237=) c.3714G>A (p.Leu1238=) c.3552G>A (p.Leu1184=) c.3585G>A (p.Leu1195=) | dbSNP gnomAD v4 |
3 | g.38566536A>C | CA352149325 | SCN5A | c.3710T>G (p.Leu1237Arg) c.3713T>G (p.Leu1238Arg) c.3551T>G (p.Leu1184Arg) c.3584T>G (p.Leu1195Arg) | |
3 | g.38566536A>G | CA352149327 | SCN5A | c.3710T>C (p.Leu1237Pro) c.3713T>C (p.Leu1238Pro) c.3551T>C (p.Leu1184Pro) c.3584T>C (p.Leu1195Pro) | |
3 | g.38566536A>T | CA352149329 | SCN5A | c.3710T>A (p.Leu1237Gln) c.3713T>A (p.Leu1238Gln) c.3551T>A (p.Leu1184Gln) c.3584T>A (p.Leu1195Gln) | |
3 | g.38566537G>A | CA433136892 | SCN5A | c.3709C>T (p.Leu1237=) c.3712C>T (p.Leu1238=) c.3550C>T (p.Leu1184=) c.3583C>T (p.Leu1195=) | |
3 | g.38566537G>C | CA352149331 | SCN5A | c.3709C>G (p.Leu1237Val) c.3712C>G (p.Leu1238Val) c.3550C>G (p.Leu1184Val) c.3583C>G (p.Leu1195Val) | |
3 | g.38566537G>T | CA352149333 | SCN5A | c.3709C>A (p.Leu1237Met) c.3712C>A (p.Leu1238Met) c.3550C>A (p.Leu1184Met) c.3583C>A (p.Leu1195Met) | gnomAD v4 |
3 | g.38566538A>C | CA433136894 | SCN5A | c.3708T>G (p.Val1236=) c.3711T>G (p.Val1237=) c.3549T>G (p.Val1183=) c.3582T>G (p.Val1194=) | |
3 | g.38566538A>G | CA433136895 | SCN5A | c.3708T>C (p.Val1236=) c.3711T>C (p.Val1237=) c.3549T>C (p.Val1183=) c.3582T>C (p.Val1194=) | |
3 | g.38566538A>T | CA433136896 | SCN5A | c.3708T>A (p.Val1236=) c.3711T>A (p.Val1237=) c.3549T>A (p.Val1183=) c.3582T>A (p.Val1194=) | |
3 | g.38566539A>C | CA352149335 | SCN5A | c.3707T>G (p.Val1236Gly) c.3710T>G (p.Val1237Gly) c.3548T>G (p.Val1183Gly) c.3581T>G (p.Val1194Gly) | |
3 | g.38566539A>G | CA352149337 | SCN5A | c.3707T>C (p.Val1236Ala) c.3710T>C (p.Val1237Ala) c.3548T>C (p.Val1183Ala) c.3581T>C (p.Val1194Ala) | ClinVar dbSNP gnomAD v4 |
3 | g.38566539A>T | CA352149339 | SCN5A | c.3707T>A (p.Val1236Asp) c.3710T>A (p.Val1237Asp) c.3548T>A (p.Val1183Asp) c.3581T>A (p.Val1194Asp) | |
3 | g.38566540C>A | CA352149341 | SCN5A | c.3706G>T (p.Val1236Phe) c.3709G>T (p.Val1237Phe) c.3547G>T (p.Val1183Phe) c.3580G>T (p.Val1194Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566540C= | CA1358569743 | SCN5A | c.3706G= (p.Val1236=) c.3709G= (p.Val1237=) c.3547G= (p.Val1183=) c.3580G= (p.Val1194=) | |
3 | g.38566540C>G | CA352149343 | SCN5A | c.3706G>C (p.Val1236Leu) c.3709G>C (p.Val1237Leu) c.3547G>C (p.Val1183Leu) c.3580G>C (p.Val1194Leu) | gnomAD v4 |
3 | g.38566540C>T | CA017449 | SCN5A | c.3706G>A (p.Val1236Ile) c.3709G>A (p.Val1237Ile) c.3547G>A (p.Val1183Ile) c.3580G>A (p.Val1194Ile) | ClinVar dbSNP gnomAD v4 |
3 | g.38566541C>A | CA017441 | SCN5A | c.3705G>T (p.Lys1235Asn) c.3708G>T (p.Lys1236Asn) c.3546G>T (p.Lys1182Asn) c.3579G>T (p.Lys1193Asn) | ClinVar dbSNP gnomAD v4 |
3 | g.38566541C= | CA1358569748 | SCN5A | c.3705G= (p.Lys1235=) c.3708G= (p.Lys1236=) c.3546G= (p.Lys1182=) c.3579G= (p.Lys1193=) | |
3 | g.38566541C>G | CA352149346 | SCN5A | c.3705G>C (p.Lys1235Asn) c.3708G>C (p.Lys1236Asn) c.3546G>C (p.Lys1182Asn) c.3579G>C (p.Lys1193Asn) | |
3 | g.38566541C>T | CA433136902 | SCN5A | c.3705G>A (p.Lys1235=) c.3708G>A (p.Lys1236=) c.3546G>A (p.Lys1182=) c.3579G>A (p.Lys1193=) | gnomAD v4 |
3 | g.38566542T>A | CA352149351 | SCN5A | c.3704A>T (p.Lys1235Met) c.3707A>T (p.Lys1236Met) c.3545A>T (p.Lys1182Met) c.3578A>T (p.Lys1193Met) | |
3 | g.38566542T>C | CA017434 | SCN5A | c.3704A>G (p.Lys1235Arg) c.3707A>G (p.Lys1236Arg) c.3545A>G (p.Lys1182Arg) c.3578A>G (p.Lys1193Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566542T>G | CA352149348 | SCN5A | c.3704A>C (p.Lys1235Thr) c.3707A>C (p.Lys1236Thr) c.3545A>C (p.Lys1182Thr) c.3578A>C (p.Lys1193Thr) | |
3 | g.38566542T= | CA1358569753 | SCN5A | c.3704A= (p.Lys1235=) c.3707A= (p.Lys1236=) c.3545A= (p.Lys1182=) c.3578A= (p.Lys1193=) | |
3 | g.38566543T>A | CA352149353 | SCN5A | c.3703A>T (p.Lys1235Ter) c.3706A>T (p.Lys1236Ter) c.3544A>T (p.Lys1182Ter) c.3577A>T (p.Lys1193Ter) | dbSNP |
3 | g.38566543T>C | CA352149355 | SCN5A | c.3703A>G (p.Lys1235Glu) c.3706A>G (p.Lys1236Glu) c.3544A>G (p.Lys1182Glu) c.3577A>G (p.Lys1193Glu) | |
3 | g.38566543T>G | CA352149357 | SCN5A | c.3703A>C (p.Lys1235Gln) c.3706A>C (p.Lys1236Gln) c.3544A>C (p.Lys1182Gln) c.3577A>C (p.Lys1193Gln) | |
3 | g.38566543T= | CA1358569757 | SCN5A | c.3703A= (p.Lys1235=) c.3706A= (p.Lys1236=) c.3544A= (p.Lys1182=) c.3577A= (p.Lys1193=) | |
3 | g.38566544G>A | CA433136906 | SCN5A | c.3702C>T (p.Ile1234=) c.3705C>T (p.Ile1235=) c.3543C>T (p.Ile1181=) c.3576C>T (p.Ile1192=) | |
3 | g.38566544G>C | CA352149359 | SCN5A | c.3702C>G (p.Ile1234Met) c.3705C>G (p.Ile1235Met) c.3543C>G (p.Ile1181Met) c.3576C>G (p.Ile1192Met) | |
3 | g.38566544G>T | CA433136907 | SCN5A | c.3702C>A (p.Ile1234=) c.3705C>A (p.Ile1235=) c.3543C>A (p.Ile1181=) c.3576C>A (p.Ile1192=) | |
3 | g.38566545A>C | CA352149361 | SCN5A | c.3701T>G (p.Ile1234Ser) c.3704T>G (p.Ile1235Ser) c.3542T>G (p.Ile1181Ser) c.3575T>G (p.Ile1192Ser) | |
3 | g.38566545A>G | CA352149364 | SCN5A | c.3701T>C (p.Ile1234Thr) c.3704T>C (p.Ile1235Thr) c.3542T>C (p.Ile1181Thr) c.3575T>C (p.Ile1192Thr) | |
3 | g.38566545A>T | CA352149365 | SCN5A | c.3701T>A (p.Ile1234Asn) c.3704T>A (p.Ile1235Asn) c.3542T>A (p.Ile1181Asn) c.3575T>A (p.Ile1192Asn) | |
3 | g.38566546T>A | CA352149366 | SCN5A | c.3700A>T (p.Ile1234Phe) c.3703A>T (p.Ile1235Phe) c.3541A>T (p.Ile1181Phe) c.3574A>T (p.Ile1192Phe) | gnomAD v4 |
3 | g.38566546T>C | CA352149367 | SCN5A | c.3700A>G (p.Ile1234Val) c.3703A>G (p.Ile1235Val) c.3541A>G (p.Ile1181Val) c.3574A>G (p.Ile1192Val) | |
3 | g.38566546T>G | CA352149369 | SCN5A | c.3700A>C (p.Ile1234Leu) c.3703A>C (p.Ile1235Leu) c.3541A>C (p.Ile1181Leu) c.3574A>C (p.Ile1192Leu) | |
3 | g.38566547G>A | CA433136913 | SCN5A | c.3699C>T (p.Thr1233=) c.3702C>T (p.Thr1234=) c.3540C>T (p.Thr1180=) c.3573C>T (p.Thr1191=) | gnomAD v4 |
3 | g.38566547G>C | CA433136915 | SCN5A | c.3699C>G (p.Thr1233=) c.3702C>G (p.Thr1234=) c.3540C>G (p.Thr1180=) c.3573C>G (p.Thr1191=) | |
3 | g.38566547G>T | CA433136916 | SCN5A | c.3699C>A (p.Thr1233=) c.3702C>A (p.Thr1234=) c.3540C>A (p.Thr1180=) c.3573C>A (p.Thr1191=) | |
3 | g.38566548G>A | CA352149371 | SCN5A | c.3698C>T (p.Thr1233Ile) c.3701C>T (p.Thr1234Ile) c.3539C>T (p.Thr1180Ile) c.3572C>T (p.Thr1191Ile) | ClinVar |
3 | g.38566548G>C | CA352149372 | SCN5A | c.3698C>G (p.Thr1233Ser) c.3701C>G (p.Thr1234Ser) c.3539C>G (p.Thr1180Ser) c.3572C>G (p.Thr1191Ser) | |
3 | g.38566548G>T | CA352149373 | SCN5A | c.3698C>A (p.Thr1233Asn) c.3701C>A (p.Thr1234Asn) c.3539C>A (p.Thr1180Asn) c.3572C>A (p.Thr1191Asn) | |
3 | g.38566549T>A | CA352149391 | SCN5A | c.3697A>T (p.Thr1233Ser) c.3700A>T (p.Thr1234Ser) c.3538A>T (p.Thr1180Ser) c.3571A>T (p.Thr1191Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38566549T>C | CA352149392 | SCN5A | c.3697A>G (p.Thr1233Ala) c.3700A>G (p.Thr1234Ala) c.3538A>G (p.Thr1180Ala) c.3571A>G (p.Thr1191Ala) | |
3 | g.38566549T>G | CA352149382 | SCN5A | c.3697A>C (p.Thr1233Pro) c.3700A>C (p.Thr1234Pro) c.3538A>C (p.Thr1180Pro) c.3571A>C (p.Thr1191Pro) | |
3 | g.38566549T= | CA1358569759 | SCN5A | c.3697A= (p.Thr1233=) c.3700A= (p.Thr1234=) c.3538A= (p.Thr1180=) c.3571A= (p.Thr1191=) | |
3 | g.38566550C>A | CA352149393 | SCN5A | c.3696G>T (p.Lys1232Asn) c.3699G>T (p.Lys1233Asn) c.3537G>T (p.Lys1179Asn) c.3570G>T (p.Lys1190Asn) | gnomAD v4 |
3 | g.38566550C>G | CA352149394 | SCN5A | c.3696G>C (p.Lys1232Asn) c.3699G>C (p.Lys1233Asn) c.3537G>C (p.Lys1179Asn) c.3570G>C (p.Lys1190Asn) | |
3 | g.38566550C>T | CA433136922 | SCN5A | c.3696G>A (p.Lys1232=) c.3699G>A (p.Lys1233=) c.3537G>A (p.Lys1179=) c.3570G>A (p.Lys1190=) | COSMIC COSMIC COSMIC |
3 | g.38566551T>A | CA352149395 | SCN5A | c.3695A>T (p.Lys1232Met) c.3698A>T (p.Lys1233Met) c.3536A>T (p.Lys1179Met) c.3569A>T (p.Lys1190Met) | |
3 | g.38566551T>C | CA352149396 | SCN5A | c.3695A>G (p.Lys1232Arg) c.3698A>G (p.Lys1233Arg) c.3536A>G (p.Lys1179Arg) c.3569A>G (p.Lys1190Arg) | |
3 | g.38566551T>G | CA352149397 | SCN5A | c.3695A>C (p.Lys1232Thr) c.3698A>C (p.Lys1233Thr) c.3536A>C (p.Lys1179Thr) c.3569A>C (p.Lys1190Thr) | |
3 | g.38566552T>A | CA352149398 | SCN5A | c.3694A>T (p.Lys1232Ter) c.3697A>T (p.Lys1233Ter) c.3535A>T (p.Lys1179Ter) c.3568A>T (p.Lys1190Ter) | ClinVar dbSNP |
3 | g.38566552T>C | CA352149399 | SCN5A | c.3694A>G (p.Lys1232Glu) c.3697A>G (p.Lys1233Glu) c.3535A>G (p.Lys1179Glu) c.3568A>G (p.Lys1190Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566552T>G | CA352149401 | SCN5A | c.3694A>C (p.Lys1232Gln) c.3697A>C (p.Lys1233Gln) c.3535A>C (p.Lys1179Gln) c.3568A>C (p.Lys1190Gln) | |
3 | g.38566552T= | CA1358569763 | SCN5A | c.3694A= (p.Lys1232=) c.3697A= (p.Lys1233=) c.3535A= (p.Lys1179=) c.3568A= (p.Lys1190=) | |
3 | g.38566553C>A | CA433136932 | SCN5A | c.3693G>T (p.Arg1231=) c.3696G>T (p.Arg1232=) c.3534G>T (p.Arg1178=) c.3567G>T (p.Arg1189=) | |
3 | g.38566553C>G | CA433136930 | SCN5A | c.3693G>C (p.Arg1231=) c.3696G>C (p.Arg1232=) c.3534G>C (p.Arg1178=) c.3567G>C (p.Arg1189=) | |
3 | g.38566553C>T | CA433136928 | SCN5A | c.3693G>A (p.Arg1231=) c.3696G>A (p.Arg1232=) c.3534G>A (p.Arg1178=) c.3567G>A (p.Arg1189=) | gnomAD v4 |
3 | g.38566554del | CA2580069778 | SCN5A | c.3693del (p.Lys1232ArgfsTer?) c.3696del (p.Lys1233ArgfsTer?) c.3534del (p.Lys1179ArgfsTer?) c.3567del (p.Lys1190ArgfsTer?) | ClinVar |
3 | g.38566554C>A | CA352149402 | SCN5A | c.3692G>T (p.Arg1231Leu) c.3695G>T (p.Arg1232Leu) c.3533G>T (p.Arg1178Leu) c.3566G>T (p.Arg1189Leu) | |
3 | g.38566554C= | CA1358569768 | SCN5A | c.3692G= (p.Arg1231=) c.3695G= (p.Arg1232=) c.3533G= (p.Arg1178=) c.3566G= (p.Arg1189=) | |
3 | g.38566554C>G | CA352149403 | SCN5A | c.3692G>C (p.Arg1231Pro) c.3695G>C (p.Arg1232Pro) c.3533G>C (p.Arg1178Pro) c.3566G>C (p.Arg1189Pro) | |
3 | g.38566554C>T | CA017422 | SCN5A | c.3692G>A (p.Arg1231Gln) c.3695G>A (p.Arg1232Gln) c.3533G>A (p.Arg1178Gln) c.3566G>A (p.Arg1189Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38566555G>A | CA017416 | SCN5A | c.3691C>T (p.Arg1231Trp) c.3694C>T (p.Arg1232Trp) c.3532C>T (p.Arg1178Trp) c.3565C>T (p.Arg1189Trp) | ClinVar dbSNP gnomAD v4 |
3 | g.38566555G>C | CA352149406 | SCN5A | c.3691C>G (p.Arg1231Gly) c.3694C>G (p.Arg1232Gly) c.3532C>G (p.Arg1178Gly) c.3565C>G (p.Arg1189Gly) | |
3 | g.38566555G= | CA1358569777 | SCN5A | c.3691C= (p.Arg1231=) c.3694C= (p.Arg1232=) c.3532C= (p.Arg1178=) c.3565C= (p.Arg1189=) | |
3 | g.38566555G>T | CA433136933 | SCN5A | c.3691C>A (p.Arg1231=) c.3694C>A (p.Arg1232=) c.3532C>A (p.Arg1178=) c.3565C>A (p.Arg1189=) | COSMIC COSMIC COSMIC |
3 | g.38566556C>A | CA352149407 | SCN5A | c.3690G>T (p.Glu1230Asp) c.3693G>T (p.Glu1231Asp) c.3531G>T (p.Glu1177Asp) c.3564G>T (p.Glu1188Asp) | |
3 | g.38566556C= | CA1358569781 | SCN5A | c.3690G= (p.Glu1230=) c.3693G= (p.Glu1231=) c.3531G= (p.Glu1177=) c.3564G= (p.Glu1188=) | |
3 | g.38566556C>G | CA352149409 | SCN5A | c.3690G>C (p.Glu1230Asp) c.3693G>C (p.Glu1231Asp) c.3531G>C (p.Glu1177Asp) c.3564G>C (p.Glu1188Asp) | |
3 | g.38566556C>T | CA433136934 | SCN5A | c.3690G>A (p.Glu1230=) c.3693G>A (p.Glu1231=) c.3531G>A (p.Glu1177=) c.3564G>A (p.Glu1188=) | dbSNP |
3 | g.38566557T>A | CA352149415 | SCN5A | c.3689A>T (p.Glu1230Val) c.3692A>T (p.Glu1231Val) c.3530A>T (p.Glu1177Val) c.3563A>T (p.Glu1188Val) | |
3 | g.38566557T>C | CA352149411 | SCN5A | c.3689A>G (p.Glu1230Gly) c.3692A>G (p.Glu1231Gly) c.3530A>G (p.Glu1177Gly) c.3563A>G (p.Glu1188Gly) | gnomAD v4 |
3 | g.38566557T>G | CA352149413 | SCN5A | c.3689A>C (p.Glu1230Ala) c.3692A>C (p.Glu1231Ala) c.3530A>C (p.Glu1177Ala) c.3563A>C (p.Glu1188Ala) | ClinVar dbSNP |
3 | g.38566557T= | CA1358569785 | SCN5A | c.3689A= (p.Glu1230=) c.3692A= (p.Glu1231=) c.3530A= (p.Glu1177=) c.3563A= (p.Glu1188=) | |
3 | g.38566558C>A | CA352149417 | SCN5A | c.3688G>T (p.Glu1230Ter) c.3691G>T (p.Glu1231Ter) c.3529G>T (p.Glu1177Ter) c.3562G>T (p.Glu1188Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.38566558C= | CA1358569801 | SCN5A | c.3688G= (p.Glu1230=) c.3691G= (p.Glu1231=) c.3529G= (p.Glu1177=) c.3562G= (p.Glu1188=) | |
3 | g.38566558C>G | CA352149419 | SCN5A | c.3688G>C (p.Glu1230Gln) c.3691G>C (p.Glu1231Gln) c.3529G>C (p.Glu1177Gln) c.3562G>C (p.Glu1188Gln) | ClinVar dbSNP |
3 | g.38566558C>T | CA017410 | SCN5A | c.3688G>A (p.Glu1230Lys) c.3691G>A (p.Glu1231Lys) c.3529G>A (p.Glu1177Lys) c.3562G>A (p.Glu1188Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38566559C>A | CA352149421 | SCN5A | c.3687G>T (p.Glu1229Asp) c.3690G>T (p.Glu1230Asp) c.3528G>T (p.Glu1176Asp) c.3561G>T (p.Glu1187Asp) | |
3 | g.38566559C>G | CA352149422 | SCN5A | c.3687G>C (p.Glu1229Asp) c.3690G>C (p.Glu1230Asp) c.3528G>C (p.Glu1176Asp) c.3561G>C (p.Glu1187Asp) | |
3 | g.38566559C>T | CA433136940 | SCN5A | c.3687G>A (p.Glu1229=) c.3690G>A (p.Glu1230=) c.3528G>A (p.Glu1176=) c.3561G>A (p.Glu1187=) | |
3 | g.38566560T>A | CA352149423 | SCN5A | c.3686A>T (p.Glu1229Val) c.3689A>T (p.Glu1230Val) c.3527A>T (p.Glu1176Val) c.3560A>T (p.Glu1187Val) | |
3 | g.38566560T>C | CA352149425 | SCN5A | c.3686A>G (p.Glu1229Gly) c.3689A>G (p.Glu1230Gly) c.3527A>G (p.Glu1176Gly) c.3560A>G (p.Glu1187Gly) | |
3 | g.38566560T>G | CA352149426 | SCN5A | c.3686A>C (p.Glu1229Ala) c.3689A>C (p.Glu1230Ala) c.3527A>C (p.Glu1176Ala) c.3560A>C (p.Glu1187Ala) | |
3 | g.38566561C>A | CA352149427 | SCN5A | c.3685G>T (p.Glu1229Ter) c.3688G>T (p.Glu1230Ter) c.3526G>T (p.Glu1176Ter) c.3559G>T (p.Glu1187Ter) | dbSNP |
3 | g.38566561C= | CA1358569808 | SCN5A | c.3685G= (p.Glu1229=) c.3688G= (p.Glu1230=) c.3526G= (p.Glu1176=) c.3559G= (p.Glu1187=) | |
3 | g.38566561C>G | CA352149428 | SCN5A | c.3685G>C (p.Glu1229Gln) c.3688G>C (p.Glu1230Gln) c.3526G>C (p.Glu1176Gln) c.3559G>C (p.Glu1187Gln) | |
3 | g.38566561C>T | CA062201 | SCN5A | c.3685G>A (p.Glu1229Lys) c.3688G>A (p.Glu1230Lys) c.3526G>A (p.Glu1176Lys) c.3559G>A (p.Glu1187Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38566562T>A | CA433136946 | SCN5A | c.3684A>T (p.Leu1228=) c.3687A>T (p.Leu1229=) c.3525A>T (p.Leu1175=) c.3558A>T (p.Leu1186=) | |
3 | g.38566562T>C | CA433136947 | SCN5A | c.3684A>G (p.Leu1228=) c.3687A>G (p.Leu1229=) c.3525A>G (p.Leu1175=) c.3558A>G (p.Leu1186=) | ClinVar dbSNP |
3 | g.38566562T>G | CA433136949 | SCN5A | c.3684A>C (p.Leu1228=) c.3687A>C (p.Leu1229=) c.3525A>C (p.Leu1175=) c.3558A>C (p.Leu1186=) | |
3 | g.38566563A>C | CA352149436 | SCN5A | c.3683T>G (p.Leu1228Arg) c.3686T>G (p.Leu1229Arg) c.3524T>G (p.Leu1175Arg) c.3557T>G (p.Leu1186Arg) | |
3 | g.38566563A>G | CA352149433 | SCN5A | c.3683T>C (p.Leu1228Pro) c.3686T>C (p.Leu1229Pro) c.3524T>C (p.Leu1175Pro) c.3557T>C (p.Leu1186Pro) | |
3 | g.38566563A>T | CA352149432 | SCN5A | c.3683T>A (p.Leu1228Gln) c.3686T>A (p.Leu1229Gln) c.3524T>A (p.Leu1175Gln) c.3557T>A (p.Leu1186Gln) | gnomAD v4 |
3 | g.38566564G>A | CA433136950 | SCN5A | c.3682C>T (p.Leu1228=) c.3685C>T (p.Leu1229=) c.3523C>T (p.Leu1175=) c.3556C>T (p.Leu1186=) | ClinVar |
3 | g.38566564G>C | CA352149438 | SCN5A | c.3682C>G (p.Leu1228Val) c.3685C>G (p.Leu1229Val) c.3523C>G (p.Leu1175Val) c.3556C>G (p.Leu1186Val) | |
3 | g.38566564G>T | CA352149439 | SCN5A | c.3682C>A (p.Leu1228Ile) c.3685C>A (p.Leu1229Ile) c.3523C>A (p.Leu1175Ile) c.3556C>A (p.Leu1186Ile) | |
3 | g.38566565G>A | CA433136953 | SCN5A | c.3681C>T (p.Tyr1227=) c.3684C>T (p.Tyr1228=) c.3522C>T (p.Tyr1174=) c.3555C>T (p.Tyr1185=) | |
3 | g.38566565G>C | CA352149443 | SCN5A | c.3681C>G (p.Tyr1227Ter) c.3684C>G (p.Tyr1228Ter) c.3522C>G (p.Tyr1174Ter) c.3555C>G (p.Tyr1185Ter) | ClinVar dbSNP |
3 | g.38566565G= | CA1358569811 | SCN5A | c.3681C= (p.Tyr1227=) c.3684C= (p.Tyr1228=) c.3522C= (p.Tyr1174=) c.3555C= (p.Tyr1185=) | |
3 | g.38566565G>T | CA352149444 | SCN5A | c.3681C>A (p.Tyr1227Ter) c.3684C>A (p.Tyr1228Ter) c.3522C>A (p.Tyr1174Ter) c.3555C>A (p.Tyr1185Ter) | |
3 | g.38566566T>A | CA352149448 | SCN5A | c.3680A>T (p.Tyr1227Phe) c.3683A>T (p.Tyr1228Phe) c.3521A>T (p.Tyr1174Phe) c.3554A>T (p.Tyr1185Phe) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566566T>C | CA062194 | SCN5A | c.3680A>G (p.Tyr1227Cys) c.3683A>G (p.Tyr1228Cys) c.3521A>G (p.Tyr1174Cys) c.3554A>G (p.Tyr1185Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566566T>G | CA352149450 | SCN5A | c.3680A>C (p.Tyr1227Ser) c.3683A>C (p.Tyr1228Ser) c.3521A>C (p.Tyr1174Ser) c.3554A>C (p.Tyr1185Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38566566T= | CA1358569819 | SCN5A | c.3680A= (p.Tyr1227=) c.3683A= (p.Tyr1228=) c.3521A= (p.Tyr1174=) c.3554A= (p.Tyr1185=) | |
3 | g.38566567A= | CA1358569827 | SCN5A | c.3679T= (p.Tyr1227=) c.3682T= (p.Tyr1228=) c.3520T= (p.Tyr1174=) c.3553T= (p.Tyr1185=) | |
3 | g.38566567A>C | CA352149452 | SCN5A | c.3679T>G (p.Tyr1227Asp) c.3682T>G (p.Tyr1228Asp) c.3520T>G (p.Tyr1174Asp) c.3553T>G (p.Tyr1185Asp) | |
3 | g.38566567A>G | CA017405 | SCN5A | c.3679T>C (p.Tyr1227His) c.3682T>C (p.Tyr1228His) c.3520T>C (p.Tyr1174His) c.3553T>C (p.Tyr1185His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38566567A>T | CA352149454 | SCN5A | c.3679T>A (p.Tyr1227Asn) c.3682T>A (p.Tyr1228Asn) c.3520T>A (p.Tyr1174Asn) c.3553T>A (p.Tyr1185Asn) | |
3 | g.38566568G>A | CA433136963 | SCN5A | c.3678C>T (p.Ile1226=) c.3681C>T (p.Ile1227=) c.3519C>T (p.Ile1173=) c.3552C>T (p.Ile1184=) | |
3 | g.38566568G>C | CA352149456 | SCN5A | c.3678C>G (p.Ile1226Met) c.3681C>G (p.Ile1227Met) c.3519C>G (p.Ile1173Met) c.3552C>G (p.Ile1184Met) | |
3 | g.38566568G>T | CA433136960 | SCN5A | c.3678C>A (p.Ile1226=) c.3681C>A (p.Ile1227=) c.3519C>A (p.Ile1173=) c.3552C>A (p.Ile1184=) | ClinVar gnomAD v4 |
3 | g.38566569A>C | CA352149459 | SCN5A | c.3677T>G (p.Ile1226Ser) c.3680T>G (p.Ile1227Ser) c.3518T>G (p.Ile1173Ser) c.3551T>G (p.Ile1184Ser) | |
3 | g.38566569A>G | CA352149461 | SCN5A | c.3677T>C (p.Ile1226Thr) c.3680T>C (p.Ile1227Thr) c.3518T>C (p.Ile1173Thr) c.3551T>C (p.Ile1184Thr) | |
3 | g.38566569A>T | CA352149463 | SCN5A | c.3677T>A (p.Ile1226Asn) c.3680T>A (p.Ile1227Asn) c.3518T>A (p.Ile1173Asn) c.3551T>A (p.Ile1184Asn) | |
3 | g.38566570T>A | CA352149464 | SCN5A | c.3676A>T (p.Ile1226Phe) c.3679A>T (p.Ile1227Phe) c.3517A>T (p.Ile1173Phe) c.3550A>T (p.Ile1184Phe) | |
3 | g.38566570T>C | CA352149468 | SCN5A | c.3676A>G (p.Ile1226Val) c.3679A>G (p.Ile1227Val) c.3517A>G (p.Ile1173Val) c.3550A>G (p.Ile1184Val) | |
3 | g.38566570T>G | CA352149466 | SCN5A | c.3676A>C (p.Ile1226Leu) c.3679A>C (p.Ile1227Leu) c.3517A>C (p.Ile1173Leu) c.3550A>C (p.Ile1184Leu) | |
3 | g.38566571G>A | CA433136968 | SCN5A | c.3675C>T (p.Asp1225=) c.3678C>T (p.Asp1226=) c.3516C>T (p.Asp1172=) c.3549C>T (p.Asp1183=) | dbSNP |
3 | g.38566571G>C | CA352149470 | SCN5A | c.3675C>G (p.Asp1225Glu) c.3678C>G (p.Asp1226Glu) c.3516C>G (p.Asp1172Glu) c.3549C>G (p.Asp1183Glu) | |
3 | g.38566571G= | CA1358569832 | SCN5A | c.3675C= (p.Asp1225=) c.3678C= (p.Asp1226=) c.3516C= (p.Asp1172=) c.3549C= (p.Asp1183=) | |
3 | g.38566571G>T | CA352149471 | SCN5A | c.3675C>A (p.Asp1225Glu) c.3678C>A (p.Asp1226Glu) c.3516C>A (p.Asp1172Glu) c.3549C>A (p.Asp1183Glu) | |
3 | g.38566572T>A | CA352149474 | SCN5A | c.3674A>T (p.Asp1225Val) c.3677A>T (p.Asp1226Val) c.3515A>T (p.Asp1172Val) c.3548A>T (p.Asp1183Val) | |
3 | g.38566572T>C | CA352149476 | SCN5A | c.3674A>G (p.Asp1225Gly) c.3677A>G (p.Asp1226Gly) c.3515A>G (p.Asp1172Gly) c.3548A>G (p.Asp1183Gly) | |
3 | g.38566572T>G | CA352149480 | SCN5A | c.3674A>C (p.Asp1225Ala) c.3677A>C (p.Asp1226Ala) c.3515A>C (p.Asp1172Ala) c.3548A>C (p.Asp1183Ala) | |
3 | g.38566573C>A | CA352149482 | SCN5A | c.3673G>T (p.Asp1225Tyr) c.3676G>T (p.Asp1226Tyr) c.3514G>T (p.Asp1172Tyr) c.3547G>T (p.Asp1183Tyr) | |
3 | g.38566573C>G | CA352149484 | SCN5A | c.3673G>C (p.Asp1225His) c.3676G>C (p.Asp1226His) c.3514G>C (p.Asp1172His) c.3547G>C (p.Asp1183His) | |
3 | g.38566573C>T | CA352149487 | SCN5A | c.3673G>A (p.Asp1225Asn) c.3676G>A (p.Asp1226Asn) c.3514G>A (p.Asp1172Asn) c.3547G>A (p.Asp1183Asn) | |
3 | g.38566574C>A | CA352149489 | SCN5A | c.3672G>T (p.Glu1224Asp) c.3675G>T (p.Glu1225Asp) c.3513G>T (p.Glu1171Asp) c.3546G>T (p.Glu1182Asp) | |
3 | g.38566574C>G | CA352149490 | SCN5A | c.3672G>C (p.Glu1224Asp) c.3675G>C (p.Glu1225Asp) c.3513G>C (p.Glu1171Asp) c.3546G>C (p.Glu1182Asp) | |
3 | g.38566574C>T | CA433136979 | SCN5A | c.3672G>A (p.Glu1224=) c.3675G>A (p.Glu1225=) c.3513G>A (p.Glu1171=) c.3546G>A (p.Glu1182=) | ClinVar COSMIC COSMIC COSMIC |
3 | g.38566575T>A | CA352149507 | SCN5A | c.3671A>T (p.Glu1224Val) c.3674A>T (p.Glu1225Val) c.3512A>T (p.Glu1171Val) c.3545A>T (p.Glu1182Val) | |
3 | g.38566575T>C | CA352149505 | SCN5A | c.3671A>G (p.Glu1224Gly) c.3674A>G (p.Glu1225Gly) c.3512A>G (p.Glu1171Gly) c.3545A>G (p.Glu1182Gly) | |
3 | g.38566575T>G | CA352149493 | SCN5A | c.3671A>C (p.Glu1224Ala) c.3674A>C (p.Glu1225Ala) c.3512A>C (p.Glu1171Ala) c.3545A>C (p.Glu1182Ala) | |
3 | g.38566576C>A | CA352149510 | SCN5A | c.3670G>T (p.Glu1224Ter) c.3673G>T (p.Glu1225Ter) c.3511G>T (p.Glu1171Ter) c.3544G>T (p.Glu1182Ter) | dbSNP |
3 | g.38566576C= | CA1358569838 | SCN5A | c.3670G= (p.Glu1224=) c.3673G= (p.Glu1225=) c.3511G= (p.Glu1171=) c.3544G= (p.Glu1182=) | |
3 | g.38566576C>G | CA352149513 | SCN5A | c.3670G>C (p.Glu1224Gln) c.3673G>C (p.Glu1225Gln) c.3511G>C (p.Glu1171Gln) c.3544G>C (p.Glu1182Gln) | ClinVar |
3 | g.38566576C>T | CA017399 | SCN5A | c.3670G>A (p.Glu1224Lys) c.3673G>A (p.Glu1225Lys) c.3511G>A (p.Glu1171Lys) c.3544G>A (p.Glu1182Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38566577G>A | CA433136988 | SCN5A | c.3669C>T (p.Phe1223=) c.3672C>T (p.Phe1224=) c.3510C>T (p.Phe1170=) c.3543C>T (p.Phe1181=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566577G>C | CA352149516 | SCN5A | c.3669C>G (p.Phe1223Leu) c.3672C>G (p.Phe1224Leu) c.3510C>G (p.Phe1170Leu) c.3543C>G (p.Phe1181Leu) | |
3 | g.38566577G= | CA1358569845 | SCN5A | c.3669C= (p.Phe1223=) c.3672C= (p.Phe1224=) c.3510C= (p.Phe1170=) c.3543C= (p.Phe1181=) | |
3 | g.38566577G>T | CA352149530 | SCN5A | c.3669C>A (p.Phe1223Leu) c.3672C>A (p.Phe1224Leu) c.3510C>A (p.Phe1170Leu) c.3543C>A (p.Phe1181Leu) | |
3 | g.38566578A>C | CA352149540 | SCN5A | c.3668T>G (p.Phe1223Cys) c.3671T>G (p.Phe1224Cys) c.3509T>G (p.Phe1170Cys) c.3542T>G (p.Phe1181Cys) | |
3 | g.38566578A>G | CA352149544 | SCN5A | c.3668T>C (p.Phe1223Ser) c.3671T>C (p.Phe1224Ser) c.3509T>C (p.Phe1170Ser) c.3542T>C (p.Phe1181Ser) | |
3 | g.38566578A>T | CA352149542 | SCN5A | c.3668T>A (p.Phe1223Tyr) c.3671T>A (p.Phe1224Tyr) c.3509T>A (p.Phe1170Tyr) c.3542T>A (p.Phe1181Tyr) | |
3 | g.38566579A>C | CA352149552 | SCN5A | c.3667T>G (p.Phe1223Val) c.3670T>G (p.Phe1224Val) c.3508T>G (p.Phe1170Val) c.3541T>G (p.Phe1181Val) | |
3 | g.38566579A>G | CA352149555 | SCN5A | c.3667T>C (p.Phe1223Leu) c.3670T>C (p.Phe1224Leu) c.3508T>C (p.Phe1170Leu) c.3541T>C (p.Phe1181Leu) | |
3 | g.38566579A>T | CA352149558 | SCN5A | c.3667T>A (p.Phe1223Ile) c.3670T>A (p.Phe1224Ile) c.3508T>A (p.Phe1170Ile) c.3541T>A (p.Phe1181Ile) | |
3 | g.38566580G>A | CA72947623 | SCN5A | c.3666C>T (p.Ala1222=) c.3669C>T (p.Ala1223=) c.3507C>T (p.Ala1169=) c.3540C>T (p.Ala1180=) | dbSNP |
3 | g.38566580G>C | CA433136995 | SCN5A | c.3666C>G (p.Ala1222=) c.3669C>G (p.Ala1223=) c.3507C>G (p.Ala1169=) c.3540C>G (p.Ala1180=) | |
3 | g.38566580G= | CA1358569847 | SCN5A | c.3666C= (p.Ala1222=) c.3669C= (p.Ala1223=) c.3507C= (p.Ala1169=) c.3540C= (p.Ala1180=) | |
3 | g.38566580G>T | CA433136996 | SCN5A | c.3666C>A (p.Ala1222=) c.3669C>A (p.Ala1223=) c.3507C>A (p.Ala1169=) c.3540C>A (p.Ala1180=) | |
3 | g.38566581G>A | CA352149576 | SCN5A | c.3665C>T (p.Ala1222Val) c.3668C>T (p.Ala1223Val) c.3506C>T (p.Ala1169Val) c.3539C>T (p.Ala1180Val) | |
3 | g.38566581G>C | CA352149578 | SCN5A | c.3665C>G (p.Ala1222Gly) c.3668C>G (p.Ala1223Gly) c.3506C>G (p.Ala1169Gly) c.3539C>G (p.Ala1180Gly) | |
3 | g.38566581G>T | CA352149583 | SCN5A | c.3665C>A (p.Ala1222Asp) c.3668C>A (p.Ala1223Asp) c.3506C>A (p.Ala1169Asp) c.3539C>A (p.Ala1180Asp) | |
3 | g.38566582C>A | CA352149585 | SCN5A | c.3664G>T (p.Ala1222Ser) c.3667G>T (p.Ala1223Ser) c.3505G>T (p.Ala1169Ser) c.3538G>T (p.Ala1180Ser) | |
3 | g.38566582C= | CA1358569854 | SCN5A | c.3664G= (p.Ala1222=) c.3667G= (p.Ala1223=) c.3505G= (p.Ala1169=) c.3538G= (p.Ala1180=) | |
3 | g.38566582C>G | CA339598 | SCN5A | c.3664G>C (p.Ala1222Pro) c.3667G>C (p.Ala1223Pro) c.3505G>C (p.Ala1169Pro) c.3538G>C (p.Ala1180Pro) | ClinVar dbSNP |
3 | g.38566582C>T | CA352149589 | SCN5A | c.3664G>A (p.Ala1222Thr) c.3667G>A (p.Ala1223Thr) c.3505G>A (p.Ala1169Thr) c.3538G>A (p.Ala1180Thr) | |
3 | g.38566583del | CA2586972092 | SCN5A | c.3664del c.3667del c.3505del c.3538del | |
3 | g.38566583C>A | CA352149594 | SCN5A | c.3664-1G>T (n.3664-1G>T) c.3667-1G>T (n.3667-1G>T) c.3505-1G>T (n.3505-1G>T) c.3538-1G>T (n.3538-1G>T) | |
3 | g.38566583C>G | CA352149597 | SCN5A | c.3664-1G>C (n.3664-1G>C) c.3667-1G>C (n.3667-1G>C) c.3505-1G>C (n.3505-1G>C) c.3538-1G>C (n.3538-1G>C) | |
3 | g.38566583C>T | CA352149599 | SCN5A | c.3664-1G>A (n.3664-1G>A) c.3667-1G>A (n.3667-1G>A) c.3505-1G>A (n.3505-1G>A) c.3538-1G>A (n.3538-1G>A) | |
3 | g.38566584T>A | CA352149602 | SCN5A | c.3664-2A>T (n.3664-2A>T) c.3667-2A>T (n.3667-2A>T) c.3505-2A>T (n.3505-2A>T) c.3538-2A>T (n.3538-2A>T) | dbSNP |
3 | g.38566584T>C | CA352149607 | SCN5A | c.3664-2A>G (n.3664-2A>G) c.3667-2A>G (n.3667-2A>G) c.3505-2A>G (n.3505-2A>G) c.3538-2A>G (n.3538-2A>G) | |
3 | g.38566584T>G | CA352149604 | SCN5A | c.3664-2A>C (n.3664-2A>C) c.3667-2A>C (n.3667-2A>C) c.3505-2A>C (n.3505-2A>C) c.3538-2A>C (n.3538-2A>C) | |
3 | g.38566584T= | CA1358569858 | SCN5A | c.3664-2A= (n.3664-2A=) c.3667-2A= (n.3667-2A=) c.3505-2A= (n.3505-2A=) c.3538-2A= (n.3538-2A=) | |
3 | g.38566585G>A | CA2665111943 | SCN5A | c.3664-3C>T (n.3664-3C>T) c.3667-3C>T (n.3667-3C>T) c.3505-3C>T (n.3505-3C>T) c.3538-3C>T (n.3538-3C>T) | gnomAD v4 |
3 | g.38566585_38566595delinsGCAGACAAGGC | CA1358569860 | SCN5A | c.3664-13_3664-3delinsGCCTTGTCTGC (n.3664-13_3664-3delinsGCCTTGTCTGC) c.3667-13_3667-3delinsGCCTTGTCTGC (n.3667-13_3667-3delinsGCCTTGTCTGC) c.3505-13_3505-3delinsGCCTTGTCTGC (n.3505-13_3505-3delinsGCCTTGTCTGC) c.3538-13_3538-3delinsGCCTTGTCTGC (n.3538-13_3538-3delinsGCCTTGTCTGC) | |
3 | g.38566586C>A | CA2665111944 | SCN5A | c.3664-4G>T (n.3664-4G>T) c.3667-4G>T (n.3667-4G>T) c.3505-4G>T (n.3505-4G>T) c.3538-4G>T (n.3538-4G>T) | gnomAD v4 |
3 | g.38566586C= | CA1358569862 | SCN5A | c.3664-4G= (n.3664-4G=) c.3667-4G= (n.3667-4G=) c.3505-4G= (n.3505-4G=) c.3538-4G= (n.3538-4G=) | |
3 | g.38566586C>T | CA062176 | SCN5A | c.3664-4G>A (n.3664-4G>A) c.3667-4G>A (n.3667-4G>A) c.3505-4G>A (n.3505-4G>A) c.3538-4G>A (n.3538-4G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38566595_38566604del | CA1358569861 | SCN5A | c.3664-13_3664-4del (n.3664-13_3664-4del) c.3667-13_3667-4del (n.3667-13_3667-4del) c.3505-13_3505-4del (n.3505-13_3505-4del) c.3538-13_3538-4del (n.3538-13_3538-4del) | dbSNP gnomAD v4 |
3 | g.38566587A>G | CA2665111945 | SCN5A | c.3664-5T>C (n.3664-5T>C) c.3667-5T>C (n.3667-5T>C) c.3505-5T>C (n.3505-5T>C) c.3538-5T>C (n.3538-5T>C) | gnomAD v4 |
3 | g.38566588G>A | CA1358569865 | SCN5A | c.3664-6C>T (n.3664-6C>T) c.3667-6C>T (n.3667-6C>T) c.3505-6C>T (n.3505-6C>T) c.3538-6C>T (n.3538-6C>T) | dbSNP |
3 | g.38566588G= | CA1358569864 | SCN5A | c.3664-6C= (n.3664-6C=) c.3667-6C= (n.3667-6C=) c.3505-6C= (n.3505-6C=) c.3538-6C= (n.3538-6C=) | |
3 | g.38566589A= | CA1358569869 | SCN5A | c.3664-7T= (n.3664-7T=) c.3667-7T= (n.3667-7T=) c.3505-7T= (n.3505-7T=) c.3538-7T= (n.3538-7T=) | |
3 | g.38566589A>T | CA017393 | SCN5A | c.3664-7T>A (n.3664-7T>A) c.3667-7T>A (n.3667-7T>A) c.3505-7T>A (n.3505-7T>A) c.3538-7T>A (n.3538-7T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566591A= | CA1358569873 | SCN5A | c.3664-9T= (n.3664-9T=) c.3667-9T= (n.3667-9T=) c.3505-9T= (n.3505-9T=) c.3538-9T= (n.3538-9T=) | |
3 | g.38566591A>C | CA2825001221 | SCN5A | c.3664-9T>G (n.3664-9T>G) c.3667-9T>G (n.3667-9T>G) c.3505-9T>G (n.3505-9T>G) c.3538-9T>G (n.3538-9T>G) | ClinVar |
3 | g.38566591A>G | CA062183 | SCN5A | c.3664-9T>C (n.3664-9T>C) c.3667-9T>C (n.3667-9T>C) c.3505-9T>C (n.3505-9T>C) c.3538-9T>C (n.3538-9T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566592A= | CA1358569878 | SCN5A | c.3664-10T= (n.3664-10T=) c.3667-10T= (n.3667-10T=) c.3505-10T= (n.3505-10T=) c.3538-10T= (n.3538-10T=) | |
3 | g.38566592A>T | CA542615573 | SCN5A | c.3664-10T>A (n.3664-10T>A) c.3667-10T>A (n.3667-10T>A) c.3505-10T>A (n.3505-10T>A) c.3538-10T>A (n.3538-10T>A) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566594G>A | CA2577553240 | SCN5A | c.3664-12C>T (n.3664-12C>T) c.3667-12C>T (n.3667-12C>T) c.3505-12C>T (n.3505-12C>T) c.3538-12C>T (n.3538-12C>T) | |
3 | g.38566594G>C | CA2577553241 | SCN5A | c.3664-12C>G (n.3664-12C>G) c.3667-12C>G (n.3667-12C>G) c.3505-12C>G (n.3505-12C>G) c.3538-12C>G (n.3538-12C>G) | ClinVar gnomAD v4 |
3 | g.38566594G>T | CA2499216746 | SCN5A | c.3664-12C>A (n.3664-12C>A) c.3667-12C>A (n.3667-12C>A) c.3505-12C>A (n.3505-12C>A) c.3538-12C>A (n.3538-12C>A) | ClinVar dbSNP gnomAD v4 |
3 | g.38566595C>A | CA1358569881 | SCN5A | c.3664-13G>T (n.3664-13G>T) c.3667-13G>T (n.3667-13G>T) c.3505-13G>T (n.3505-13G>T) c.3538-13G>T (n.3538-13G>T) | dbSNP |
3 | g.38566595C= | CA1358569880 | SCN5A | c.3664-13G= (n.3664-13G=) c.3667-13G= (n.3667-13G=) c.3505-13G= (n.3505-13G=) c.3538-13G= (n.3538-13G=) | |
3 | g.38566596C>G | CA2665111946 | SCN5A | c.3664-14G>C (n.3664-14G>C) c.3667-14G>C (n.3667-14G>C) c.3505-14G>C (n.3505-14G>C) c.3538-14G>C (n.3538-14G>C) | gnomAD v4 |
3 | g.38566597A= | CA1358569883 | SCN5A | c.3664-15T= (n.3664-15T=) c.3667-15T= (n.3667-15T=) c.3505-15T= (n.3505-15T=) c.3538-15T= (n.3538-15T=) | |
3 | g.38566597A>G | CA1046996772 | SCN5A | c.3664-15T>C (n.3664-15T>C) c.3667-15T>C (n.3667-15T>C) c.3505-15T>C (n.3505-15T>C) c.3538-15T>C (n.3538-15T>C) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38566598G>A | CA1358569885 | SCN5A | c.3664-16C>T (n.3664-16C>T) c.3667-16C>T (n.3667-16C>T) c.3505-16C>T (n.3505-16C>T) c.3538-16C>T (n.3538-16C>T) | ClinVar dbSNP gnomAD v4 |
3 | g.38566598G= | CA1358569886 | SCN5A | c.3664-16C= (n.3664-16C=) c.3667-16C= (n.3667-16C=) c.3505-16C= (n.3505-16C=) c.3538-16C= (n.3538-16C=) | |
3 | g.38566599A>G | CA2577553242 | SCN5A | c.3664-17T>C (n.3664-17T>C) c.3667-17T>C (n.3667-17T>C) c.3505-17T>C (n.3505-17T>C) c.3538-17T>C (n.3538-17T>C) | |
3 | g.38566600C>A | CA2665111947 | SCN5A | c.3664-18G>T (n.3664-18G>T) c.3667-18G>T (n.3667-18G>T) c.3505-18G>T (n.3505-18G>T) c.3538-18G>T (n.3538-18G>T) | gnomAD v4 |
3 | g.38566600C= | CA1358569887 | SCN5A | c.3664-18G= (n.3664-18G=) c.3667-18G= (n.3667-18G=) c.3505-18G= (n.3505-18G=) c.3538-18G= (n.3538-18G=) | |
3 | g.38566600C>G | CA1046996776 | SCN5A | c.3664-18G>C (n.3664-18G>C) c.3667-18G>C (n.3667-18G>C) c.3505-18G>C (n.3505-18G>C) c.3538-18G>C (n.3538-18G>C) | ClinVar dbSNP |
3 | g.38566600C>T | CA2665111948 | SCN5A | c.3664-18G>A (n.3664-18G>A) c.3667-18G>A (n.3667-18G>A) c.3505-18G>A (n.3505-18G>A) c.3538-18G>A (n.3538-18G>A) | gnomAD v4 |
3 | g.38566603G>A | CA062156 | SCN5A | c.3664-21C>T (n.3664-21C>T) c.3667-21C>T (n.3667-21C>T) c.3505-21C>T (n.3505-21C>T) c.3538-21C>T (n.3538-21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566603G= | CA1358569888 | SCN5A | c.3664-21C= (n.3664-21C=) c.3667-21C= (n.3667-21C=) c.3505-21C= (n.3505-21C=) c.3538-21C= (n.3538-21C=) | |
3 | g.38566604G>T | CA2665111949 | SCN5A | c.3664-22C>A (n.3664-22C>A) c.3667-22C>A (n.3667-22C>A) c.3505-22C>A (n.3505-22C>A) c.3538-22C>A (n.3538-22C>A) | gnomAD v4 |
3 | g.38566605T>G | CA1358569890 | SCN5A | c.3664-23A>C (n.3664-23A>C) c.3667-23A>C (n.3667-23A>C) c.3505-23A>C (n.3505-23A>C) c.3538-23A>C (n.3538-23A>C) | dbSNP |
3 | g.38566605T= | CA1358569889 | SCN5A | c.3664-23A= (n.3664-23A=) c.3667-23A= (n.3667-23A=) c.3505-23A= (n.3505-23A=) c.3538-23A= (n.3538-23A=) | |
3 | g.38566611T>C | CA2665111950 | SCN5A | c.3664-29A>G (n.3664-29A>G) c.3667-29A>G (n.3667-29A>G) c.3505-29A>G (n.3505-29A>G) c.3538-29A>G (n.3538-29A>G) | gnomAD v4 |
3 | g.38566611T>G | CA062160 | SCN5A | c.3664-29A>C (n.3664-29A>C) c.3667-29A>C (n.3667-29A>C) c.3505-29A>C (n.3505-29A>C) c.3538-29A>C (n.3538-29A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38566611T= | CA1358569891 | SCN5A | c.3664-29A= (n.3664-29A=) c.3667-29A= (n.3667-29A=) c.3505-29A= (n.3505-29A=) c.3538-29A= (n.3538-29A=) | |
3 | g.38566616C= | CA1358569894 | SCN5A | c.3664-34G= (n.3664-34G=) c.3667-34G= (n.3667-34G=) c.3505-34G= (n.3505-34G=) c.3538-34G= (n.3538-34G=) | |
3 | g.38566616C>T | CA1046996796 | SCN5A | c.3664-34G>A (n.3664-34G>A) c.3667-34G>A (n.3667-34G>A) c.3505-34G>A (n.3505-34G>A) c.3538-34G>A (n.3538-34G>A) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38566617del | CA2665111951 | SCN5A | c.3664-34del (n.3664-34del) c.3667-34del (n.3667-34del) c.3505-34del (n.3505-34del) c.3538-34del (n.3538-34del) | gnomAD v4 |
3 | g.38566617C>T | CA2755899979 | SCN5A | c.3664-35G>A (n.3664-35G>A) c.3667-35G>A (n.3667-35G>A) c.3505-35G>A (n.3505-35G>A) c.3538-35G>A (n.3538-35G>A) | |
3 | g.38566619G>A | CA2665111952 | SCN5A | c.3664-37C>T (n.3664-37C>T) c.3667-37C>T (n.3667-37C>T) c.3505-37C>T (n.3505-37C>T) c.3538-37C>T (n.3538-37C>T) | gnomAD v4 |
3 | g.38566620G>A | CA062161 | SCN5A | c.3664-38C>T (n.3664-38C>T) c.3667-38C>T (n.3667-38C>T) c.3505-38C>T (n.3505-38C>T) c.3538-38C>T (n.3538-38C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566620G= | CA1358569896 | SCN5A | c.3664-38C= (n.3664-38C=) c.3667-38C= (n.3667-38C=) c.3505-38C= (n.3505-38C=) c.3538-38C= (n.3538-38C=) | |
3 | g.38566620G>T | CA2665111953 | SCN5A | c.3664-38C>A (n.3664-38C>A) c.3667-38C>A (n.3667-38C>A) c.3505-38C>A (n.3505-38C>A) c.3538-38C>A (n.3538-38C>A) | gnomAD v4 |
3 | g.38566621A= | CA1358569897 | SCN5A | c.3664-39T= (n.3664-39T=) c.3667-39T= (n.3667-39T=) c.3505-39T= (n.3505-39T=) c.3538-39T= (n.3538-39T=) | |
3 | g.38566621A>C | CA1358569898 | SCN5A | c.3664-39T>G (n.3664-39T>G) c.3667-39T>G (n.3667-39T>G) c.3505-39T>G (n.3505-39T>G) c.3538-39T>G (n.3538-39T>G) | dbSNP |
3 | g.38566622C= | CA1358569900 | SCN5A | c.3664-40G= (n.3664-40G=) c.3667-40G= (n.3667-40G=) c.3505-40G= (n.3505-40G=) c.3538-40G= (n.3538-40G=) | |
3 | g.38566622C>T | CA062165 | SCN5A | c.3664-40G>A (n.3664-40G>A) c.3667-40G>A (n.3667-40G>A) c.3505-40G>A (n.3505-40G>A) c.3538-40G>A (n.3538-40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38566623_38566624insCCCCACCAAACACACCCAACAC | CA2755899984 | SCN5A | c.3664-41_3664-40insTGTTGGGTGTGTTTGGTGGGGG (n.3664-41_3664-40insTGTTGGGTGTGTTTGGTGGGGG) c.3667-41_3667-40insTGTTGGGTGTGTTTGGTGGGGG (n.3667-41_3667-40insTGTTGGGTGTGTTTGGTGGGGG) c.3505-41_3505-40insTGTTGGGTGTGTTTGGTGGGGG (n.3505-41_3505-40insTGTTGGGTGTGTTTGGTGGGGG) c.3538-41_3538-40insTGTTGGGTGTGTTTGGTGGGGG (n.3538-41_3538-40insTGTTGGGTGTGTTTGGTGGGGG) | |
3 | g.38566625C= | CA1358569902 | SCN5A | c.3664-43G= (n.3664-43G=) c.3667-43G= (n.3667-43G=) c.3505-43G= (n.3505-43G=) c.3538-43G= (n.3538-43G=) | |
3 | g.38566625C>T | CA542615574 | SCN5A | c.3664-43G>A (n.3664-43G>A) c.3667-43G>A (n.3667-43G>A) c.3505-43G>A (n.3505-43G>A) c.3538-43G>A (n.3538-43G>A) | dbSNP gnomAD v2 gnomAD v4 |