UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38609781G>A | CA352150406 | SCN5A | c.887C>T (p.Ala296Val) c.758C>T (p.Ala253Val) | |
| 3 | g.38609781G>C | CA352150407 | SCN5A | c.887C>G (p.Ala296Gly) c.758C>G (p.Ala253Gly) | |
| 3 | g.38609781G>T | CA352150408 | SCN5A | c.887C>A (p.Ala296Asp) c.758C>A (p.Ala253Asp) | |
| 3 | g.38609782C>A | CA352150409 | SCN5A | c.886G>T (p.Ala296Ser) c.757G>T (p.Ala253Ser) | |
| 3 | g.38609782C>G | CA352150410 | SCN5A | c.886G>C (p.Ala296Pro) c.757G>C (p.Ala253Pro) | |
| 3 | g.38609782C>T | CA352150411 | SCN5A | c.886G>A (p.Ala296Thr) c.757G>A (p.Ala253Thr) | |
| 3 | g.38609783C>A | CA352150412 | SCN5A | c.885G>T (p.Glu295Asp) c.756G>T (p.Glu252Asp) | |
| 3 | g.38609783C= | CA1358587649 | SCN5A | c.885G= (p.Glu295=) c.756G= (p.Glu252=) | |
| 3 | g.38609783C>G | CA352150413 | SCN5A | c.885G>C (p.Glu295Asp) c.756G>C (p.Glu252Asp) | |
| 3 | g.38609783C>T | CA019908 | SCN5A | c.885G>A (p.Glu295=) c.756G>A (p.Glu252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609784T>A | CA352150414 | SCN5A | c.884A>T (p.Glu295Val) c.755A>T (p.Glu252Val) | |
| 3 | g.38609784T>C | CA352150415 | SCN5A | c.884A>G (p.Glu295Gly) c.755A>G (p.Glu252Gly) | |
| 3 | g.38609784T>G | CA352150416 | SCN5A | c.884A>C (p.Glu295Ala) c.755A>C (p.Glu252Ala) | |
| 3 | g.38609785C>A | CA352150417 | SCN5A | c.883G>T (p.Glu295Ter) c.754G>T (p.Glu252Ter) | |
| 3 | g.38609785C= | CA1358587650 | SCN5A | c.883G= (p.Glu295=) c.754G= (p.Glu252=) | |
| 3 | g.38609785C>G | CA352150418 | SCN5A | c.883G>C (p.Glu295Gln) c.754G>C (p.Glu252Gln) | |
| 3 | g.38609785C>T | CA065839 | SCN5A | c.883G>A (p.Glu295Lys) c.754G>A (p.Glu252Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38609786C>A | CA433138207 | SCN5A | c.882G>T (p.Val294=) c.753G>T (p.Val251=) | |
| 3 | g.38609786C>G | CA433138208 | SCN5A | c.882G>C (p.Val294=) c.753G>C (p.Val251=) | |
| 3 | g.38609786C>T | CA433138209 | SCN5A | c.882G>A (p.Val294=) c.753G>A (p.Val251=) | |
| 3 | g.38609787A>C | CA352150419 | SCN5A | c.881T>G (p.Val294Gly) c.752T>G (p.Val251Gly) | |
| 3 | g.38609787A>G | CA352150421 | SCN5A | c.881T>C (p.Val294Ala) c.752T>C (p.Val251Ala) | gnomAD v4 |
| 3 | g.38609787A>T | CA352150420 | SCN5A | c.881T>A (p.Val294Glu) c.752T>A (p.Val251Glu) | |
| 3 | g.38609788C>A | CA352150422 | SCN5A | c.880G>T (p.Val294Leu) c.751G>T (p.Val251Leu) | gnomAD v2 gnomAD v4 |
| 3 | g.38609788C= | CA1358587651 | SCN5A | c.880G= (p.Val294=) c.751G= (p.Val251=) | |
| 3 | g.38609788C>G | CA352150423 | SCN5A | c.880G>C (p.Val294Leu) c.751G>C (p.Val251Leu) | |
| 3 | g.38609788C>T | CA019903 | SCN5A | c.880G>A (p.Val294Met) c.751G>A (p.Val251Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609789G>A | CA065817 | SCN5A | c.879C>T (p.Ser293=) c.750C>T (p.Ser250=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609789G>C | CA433138216 | SCN5A | c.879C>G (p.Ser293=) c.750C>G (p.Ser250=) | |
| 3 | g.38609789G= | CA1358587652 | SCN5A | c.879C= (p.Ser293=) c.750C= (p.Ser250=) | |
| 3 | g.38609789G>T | CA72941641 | SCN5A | c.879C>A (p.Ser293=) c.750C>A (p.Ser250=) | dbSNP |
| 3 | g.38609791_38609799dup | CA542273805 | SCN5A | c.871_879dup (p.Ser293_Val294insAsnGlySer) c.742_750dup (p.Ser250_Val251insAsnGlySer) | dbSNP gnomAD v2 |
| 3 | g.38609790G>A | CA72941651 | SCN5A | c.878C>T (p.Ser293Phe) c.749C>T (p.Ser250Phe) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38609790G>C | CA352150424 | SCN5A | c.878C>G (p.Ser293Cys) c.749C>G (p.Ser250Cys) | |
| 3 | g.38609790G= | CA1358587653 | SCN5A | c.878C= (p.Ser293=) c.749C= (p.Ser250=) | |
| 3 | g.38609790G>T | CA352150425 | SCN5A | c.878C>A (p.Ser293Tyr) c.749C>A (p.Ser250Tyr) | |
| 3 | g.38609791A>C | CA352150426 | SCN5A | c.877T>G (p.Ser293Ala) c.748T>G (p.Ser250Ala) | |
| 3 | g.38609791A>G | CA352150427 | SCN5A | c.877T>C (p.Ser293Pro) c.748T>C (p.Ser250Pro) | |
| 3 | g.38609791A>T | CA352150428 | SCN5A | c.877T>A (p.Ser293Thr) c.748T>A (p.Ser250Thr) | |
| 3 | g.38609791_38609800delinsAGCCGTTGGT | CA1358587654 | SCN5A | c.868_877delinsACCAACGGCT (p.Thr290=) c.739_748delinsACCAACGGCT (p.Thr247=) | |
| 3 | g.38609792G>A | CA065812 | SCN5A | c.876C>T (p.Gly292=) c.747C>T (p.Gly249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38609792G>C | CA433138223 | SCN5A | c.876C>G (p.Gly292=) c.747C>G (p.Gly249=) | |
| 3 | g.38609792G= | CA1358587655 | SCN5A | c.876C= (p.Gly292=) c.747C= (p.Gly249=) | |
| 3 | g.38609792G>T | CA433138224 | SCN5A | c.876C>A (p.Gly292=) c.747C>A (p.Gly249=) | |
| 3 | g.38609799_38609807del | CA065792 | SCN5A | c.868_876del (p.Thr290_Gly292del) c.739_747del (p.Thr247_Gly249del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609793C>A | CA352150431 | SCN5A | c.875G>T (p.Gly292Val) c.746G>T (p.Gly249Val) | |
| 3 | g.38609793C>G | CA352150433 | SCN5A | c.875G>C (p.Gly292Ala) c.746G>C (p.Gly249Ala) | |
| 3 | g.38609793C>T | CA352150435 | SCN5A | c.875G>A (p.Gly292Asp) c.746G>A (p.Gly249Asp) | gnomAD v4 |
| 3 | g.38609794C>A | CA352150436 | SCN5A | c.874G>T (p.Gly292Cys) c.745G>T (p.Gly249Cys) | |
| 3 | g.38609794C= | CA1358587656 | SCN5A | c.874G= (p.Gly292=) c.745G= (p.Gly249=) | |
| 3 | g.38609794C>G | CA352150437 | SCN5A | c.874G>C (p.Gly292Arg) c.745G>C (p.Gly249Arg) | |
| 3 | g.38609794C>T | CA019893 | SCN5A | c.874G>A (p.Gly292Ser) c.745G>A (p.Gly249Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609795G>A | CA065802 | SCN5A | c.873C>T (p.Asn291=) c.744C>T (p.Asn248=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609795G>C | CA352150442 | SCN5A | c.873C>G (p.Asn291Lys) c.744C>G (p.Asn248Lys) | |
| 3 | g.38609795G= | CA1358587657 | SCN5A | c.873C= (p.Asn291=) c.744C= (p.Asn248=) | |
| 3 | g.38609795G>T | CA352150444 | SCN5A | c.873C>A (p.Asn291Lys) c.744C>A (p.Asn248Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609796T>A | CA352150445 | SCN5A | c.872A>T (p.Asn291Ile) c.743A>T (p.Asn248Ile) | |
| 3 | g.38609796T>C | CA019885 | SCN5A | c.872A>G (p.Asn291Ser) c.743A>G (p.Asn248Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609796T>G | CA352150448 | SCN5A | c.872A>C (p.Asn291Thr) c.743A>C (p.Asn248Thr) | |
| 3 | g.38609796T= | CA1358587658 | SCN5A | c.872A= (p.Asn291=) c.743A= (p.Asn248=) | |
| 3 | g.38609797T>A | CA352150450 | SCN5A | c.871A>T (p.Asn291Tyr) c.742A>T (p.Asn248Tyr) | |
| 3 | g.38609797T>C | CA352150451 | SCN5A | c.871A>G (p.Asn291Asp) c.742A>G (p.Asn248Asp) | |
| 3 | g.38609797T>G | CA019880 | SCN5A | c.871A>C (p.Asn291His) c.742A>C (p.Asn248His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609797T= | CA1358587659 | SCN5A | c.871A= (p.Asn291=) c.742A= (p.Asn248=) | |
| 3 | g.38609798G>A | CA433138291 | SCN5A | c.870C>T (p.Thr290=) c.741C>T (p.Thr247=) | gnomAD v4 |
| 3 | g.38609798G>C | CA433138292 | SCN5A | c.870C>G (p.Thr290=) c.741C>G (p.Thr247=) | |
| 3 | g.38609798G>T | CA433138293 | SCN5A | c.870C>A (p.Thr290=) c.741C>A (p.Thr247=) | |
| 3 | g.38609799del | CA2586971917 | SCN5A | c.870del (p.Asn291ThrfsTer?) c.741del (p.Asn248ThrfsTer?) | |
| 3 | g.38609799G>A | CA352150454 | SCN5A | c.869C>T (p.Thr290Ile) c.740C>T (p.Thr247Ile) | |
| 3 | g.38609799G>C | CA352150456 | SCN5A | c.869C>G (p.Thr290Ser) c.740C>G (p.Thr247Ser) | |
| 3 | g.38609799G= | CA1358587660 | SCN5A | c.869C= (p.Thr290=) c.740C= (p.Thr247=) | |
| 3 | g.38609799G>T | CA352150457 | SCN5A | c.869C>A (p.Thr290Asn) c.740C>A (p.Thr247Asn) | ClinVar dbSNP |
| 3 | g.38609800T>A | CA352150460 | SCN5A | c.868A>T (p.Thr290Ser) c.739A>T (p.Thr247Ser) | |
| 3 | g.38609800T>C | CA352150462 | SCN5A | c.868A>G (p.Thr290Ala) c.739A>G (p.Thr247Ala) | |
| 3 | g.38609800T>G | CA352150463 | SCN5A | c.868A>C (p.Thr290Pro) c.739A>C (p.Thr247Pro) | gnomAD v4 |
| 3 | g.38609801G>A | CA433138294 | SCN5A | c.867C>T (p.Gly289=) c.738C>T (p.Gly246=) | |
| 3 | g.38609801G>C | CA433138295 | SCN5A | c.867C>G (p.Gly289=) c.738C>G (p.Gly246=) | |
| 3 | g.38609801G>T | CA433138296 | SCN5A | c.867C>A (p.Gly289=) c.738C>A (p.Gly246=) | |
| 3 | g.38609802C>A | CA352150466 | SCN5A | c.866G>T (p.Gly289Val) c.737G>T (p.Gly246Val) | |
| 3 | g.38609802C>G | CA352150467 | SCN5A | c.866G>C (p.Gly289Ala) c.737G>C (p.Gly246Ala) | |
| 3 | g.38609802C>T | CA352150469 | SCN5A | c.866G>A (p.Gly289Asp) c.737G>A (p.Gly246Asp) | gnomAD v4 |
| 3 | g.38609803C>A | CA352150471 | SCN5A | c.865G>T (p.Gly289Cys) c.736G>T (p.Gly246Cys) | |
| 3 | g.38609803C= | CA1358587661 | SCN5A | c.865G= (p.Gly289=) c.736G= (p.Gly246=) | |
| 3 | g.38609803C>G | CA352150473 | SCN5A | c.865G>C (p.Gly289Arg) c.736G>C (p.Gly246Arg) | dbSNP gnomAD v4 |
| 3 | g.38609803C>T | CA019867 | SCN5A | c.865G>A (p.Gly289Ser) c.736G>A (p.Gly246Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609804G>A | CA065783 | SCN5A | c.864C>T (p.Asn288=) c.735C>T (p.Asn245=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609804G>C | CA352150477 | SCN5A | c.864C>G (p.Asn288Lys) c.735C>G (p.Asn245Lys) | ClinVar gnomAD v4 |
| 3 | g.38609804G= | CA1358587662 | SCN5A | c.864C= (p.Asn288=) c.735C= (p.Asn245=) | |
| 3 | g.38609804G>T | CA352150475 | SCN5A | c.864C>A (p.Asn288Lys) c.735C>A (p.Asn245Lys) | gnomAD v4 |
| 3 | g.38609805T>A | CA352150479 | SCN5A | c.863A>T (p.Asn288Ile) c.734A>T (p.Asn245Ile) | |
| 3 | g.38609805T>C | CA065779 | SCN5A | c.863A>G (p.Asn288Ser) c.734A>G (p.Asn245Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38609805T>G | CA352150481 | SCN5A | c.863A>C (p.Asn288Thr) c.734A>C (p.Asn245Thr) | |
| 3 | g.38609805T= | CA1358587663 | SCN5A | c.863A= (p.Asn288=) c.734A= (p.Asn245=) | |
| 3 | g.38609806T>A | CA352150484 | SCN5A | c.862A>T (p.Asn288Tyr) c.733A>T (p.Asn245Tyr) | |
| 3 | g.38609806T>C | CA352150485 | SCN5A | c.862A>G (p.Asn288Asp) c.733A>G (p.Asn245Asp) | |
| 3 | g.38609806T>G | CA352150486 | SCN5A | c.862A>C (p.Asn288His) c.733A>C (p.Asn245His) | |
| 3 | g.38609807G>A | CA433138297 | SCN5A | c.861C>T (p.Leu287=) c.732C>T (p.Leu244=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38609807G>C | CA433138298 | SCN5A | c.861C>G (p.Leu287=) c.732C>G (p.Leu244=) | gnomAD v4 |
| 3 | g.38609807G= | CA1358587664 | SCN5A | c.861C= (p.Leu287=) c.732C= (p.Leu244=) | |
| 3 | g.38609807G>T | CA433138299 | SCN5A | c.861C>A (p.Leu287=) c.732C>A (p.Leu244=) | |
| 3 | g.38609808A>C | CA352150487 | SCN5A | c.860T>G (p.Leu287Arg) c.731T>G (p.Leu244Arg) | |
| 3 | g.38609808A>G | CA352150490 | SCN5A | c.860T>C (p.Leu287Pro) c.731T>C (p.Leu244Pro) | |
| 3 | g.38609808A>T | CA352150488 | SCN5A | c.860T>A (p.Leu287His) c.731T>A (p.Leu244His) | |
| 3 | g.38609809G>A | CA352150493 | SCN5A | c.859C>T (p.Leu287Phe) c.730C>T (p.Leu244Phe) | |
| 3 | g.38609809G>C | CA352150494 | SCN5A | c.859C>G (p.Leu287Val) c.730C>G (p.Leu244Val) | |
| 3 | g.38609809G>T | CA352150496 | SCN5A | c.859C>A (p.Leu287Ile) c.730C>A (p.Leu244Ile) | |
| 3 | g.38609810C>A | CA433138300 | SCN5A | c.858G>T (p.Ala286=) c.729G>T (p.Ala243=) | ClinVar dbSNP |
| 3 | g.38609810C= | CA1358587665 | SCN5A | c.858G= (p.Ala286=) c.729G= (p.Ala243=) | |
| 3 | g.38609810C>G | CA433138301 | SCN5A | c.858G>C (p.Ala286=) c.729G>C (p.Ala243=) | |
| 3 | g.38609810C>T | CA065775 | SCN5A | c.858G>A (p.Ala286=) c.729G>A (p.Ala243=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609811G>A | CA019862 | SCN5A | c.857C>T (p.Ala286Val) c.728C>T (p.Ala243Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38609811G>C | CA352150501 | SCN5A | c.857C>G (p.Ala286Gly) c.728C>G (p.Ala243Gly) | |
| 3 | g.38609811G= | CA1358587666 | SCN5A | c.857C= (p.Ala286=) c.728C= (p.Ala243=) | |
| 3 | g.38609811G>T | CA352150499 | SCN5A | c.857C>A (p.Ala286Glu) c.728C>A (p.Ala243Glu) | |
| 3 | g.38609812C>A | CA019856 | SCN5A | c.856G>T (p.Ala286Ser) c.727G>T (p.Ala243Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609812C= | CA1358587667 | SCN5A | c.856G= (p.Ala286=) c.727G= (p.Ala243=) | |
| 3 | g.38609812C>G | CA352150505 | SCN5A | c.856G>C (p.Ala286Pro) c.727G>C (p.Ala243Pro) | ClinVar dbSNP |
| 3 | g.38609812C>T | CA352150504 | SCN5A | c.856G>A (p.Ala286Thr) c.727G>A (p.Ala243Thr) | |
| 3 | g.38609813T>A | CA433138302 | SCN5A | c.855A>T (p.Thr285=) c.726A>T (p.Thr242=) | |
| 3 | g.38609813T>C | CA065760 | SCN5A | c.855A>G (p.Thr285=) c.726A>G (p.Thr242=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38609813T>G | CA433138303 | SCN5A | c.855A>C (p.Thr285=) c.726A>C (p.Thr242=) | |
| 3 | g.38609813T= | CA1358587668 | SCN5A | c.855A= (p.Thr285=) c.726A= (p.Thr242=) | |
| 3 | g.38609814G>A | CA352150510 | SCN5A | c.854C>T (p.Thr285Ile) c.725C>T (p.Thr242Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38609814G>C | CA352150508 | SCN5A | c.854C>G (p.Thr285Arg) c.725C>G (p.Thr242Arg) | |
| 3 | g.38609814G= | CA1358587669 | SCN5A | c.854C= (p.Thr285=) c.725C= (p.Thr242=) | |
| 3 | g.38609814G>T | CA065756 | SCN5A | c.854C>A (p.Thr285Lys) c.725C>A (p.Thr242Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38609815T>A | CA352150512 | SCN5A | c.853A>T (p.Thr285Ser) c.724A>T (p.Thr242Ser) | |
| 3 | g.38609815T>C | CA352150514 | SCN5A | c.853A>G (p.Thr285Ala) c.724A>G (p.Thr242Ala) | |
| 3 | g.38609815T>G | CA352150516 | SCN5A | c.853A>C (p.Thr285Pro) c.724A>C (p.Thr242Pro) | |
| 3 | g.38609816G>A | CA72941685 | SCN5A | c.852C>T (p.Phe284=) c.723C>T (p.Phe241=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38609816G>C | CA352150518 | SCN5A | c.852C>G (p.Phe284Leu) c.723C>G (p.Phe241Leu) | |
| 3 | g.38609816G= | CA1358587670 | SCN5A | c.852C= (p.Phe284=) c.723C= (p.Phe241=) | |
| 3 | g.38609816G>T | CA352150520 | SCN5A | c.852C>A (p.Phe284Leu) c.723C>A (p.Phe241Leu) | |
| 3 | g.38609817A>C | CA352150522 | SCN5A | c.851T>G (p.Phe284Cys) c.722T>G (p.Phe241Cys) | |
| 3 | g.38609817A>G | CA352150523 | SCN5A | c.851T>C (p.Phe284Ser) c.722T>C (p.Phe241Ser) | |
| 3 | g.38609817A>T | CA352150524 | SCN5A | c.851T>A (p.Phe284Tyr) c.722T>A (p.Phe241Tyr) | |
| 3 | g.38609818A>C | CA352150530 | SCN5A | c.850T>G (p.Phe284Val) c.721T>G (p.Phe241Val) | |
| 3 | g.38609818A>G | CA352150528 | SCN5A | c.850T>C (p.Phe284Leu) c.721T>C (p.Phe241Leu) | |
| 3 | g.38609818A>T | CA352150526 | SCN5A | c.850T>A (p.Phe284Ile) c.721T>A (p.Phe241Ile) | |
| 3 | g.38609819G>A | CA433138304 | SCN5A | c.849C>T (p.Asn283=) c.720C>T (p.Asn240=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38609819G>C | CA352150531 | SCN5A | c.849C>G (p.Asn283Lys) c.720C>G (p.Asn240Lys) | |
| 3 | g.38609819G= | CA1358587671 | SCN5A | c.849C= (p.Asn283=) c.720C= (p.Asn240=) | |
| 3 | g.38609819G>T | CA352150533 | SCN5A | c.849C>A (p.Asn283Lys) c.720C>A (p.Asn240Lys) | dbSNP |
| 3 | g.38609820T>A | CA352150535 | SCN5A | c.848A>T (p.Asn283Ile) c.719A>T (p.Asn240Ile) | |
| 3 | g.38609820T>C | CA352150537 | SCN5A | c.848A>G (p.Asn283Ser) c.719A>G (p.Asn240Ser) | |
| 3 | g.38609820T>G | CA352150538 | SCN5A | c.848A>C (p.Asn283Thr) c.719A>C (p.Asn240Thr) | |
| 3 | g.38609821T>A | CA352150540 | SCN5A | c.847A>T (p.Asn283Tyr) c.718A>T (p.Asn240Tyr) | |
| 3 | g.38609821T>C | CA352150542 | SCN5A | c.847A>G (p.Asn283Asp) c.718A>G (p.Asn240Asp) | |
| 3 | g.38609821T>G | CA352150543 | SCN5A | c.847A>C (p.Asn283His) c.718A>C (p.Asn240His) | |
| 3 | g.38609822G>A | CA433138305 | SCN5A | c.846C>T (p.Arg282=) c.717C>T (p.Arg239=) | |
| 3 | g.38609822G>C | CA433138306 | SCN5A | c.846C>G (p.Arg282=) c.717C>G (p.Arg239=) | |
| 3 | g.38609822G= | CA1358587672 | SCN5A | c.846C= (p.Arg282=) c.717C= (p.Arg239=) | |
| 3 | g.38609822G>T | CA433138307 | SCN5A | c.846C>A (p.Arg282=) c.717C>A (p.Arg239=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38609823C>A | CA352150546 | SCN5A | c.845G>T (p.Arg282Leu) c.716G>T (p.Arg239Leu) | |
| 3 | g.38609823C= | CA1358587673 | SCN5A | c.845G= (p.Arg282=) c.716G= (p.Arg239=) | |
| 3 | g.38609823C>G | CA352150548 | SCN5A | c.845G>C (p.Arg282Pro) c.716G>C (p.Arg239Pro) | |
| 3 | g.38609823C>T | CA019849 | SCN5A | c.845G>A (p.Arg282His) c.716G>A (p.Arg239His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38609824G>A | CA019844 | SCN5A | c.844C>T (p.Arg282Cys) c.715C>T (p.Arg239Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38609824G>C | CA352150552 | SCN5A | c.844C>G (p.Arg282Gly) c.715C>G (p.Arg239Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38609824G= | CA1358587674 | SCN5A | c.844C= (p.Arg282=) c.715C= (p.Arg239=) | |
| 3 | g.38609824G>T | CA352150550 | SCN5A | c.844C>A (p.Arg282Ser) c.715C>A (p.Arg239Ser) | |
| 3 | g.38609825C>A | CA433138309 | SCN5A | c.843G>T (p.Val281=) c.714G>T (p.Val238=) | |
| 3 | g.38609825C= | CA1358587675 | SCN5A | c.843G= (p.Val281=) c.714G= (p.Val238=) | |
| 3 | g.38609825C>G | CA433138308 | SCN5A | c.843G>C (p.Val281=) c.714G>C (p.Val238=) | |
| 3 | g.38609825C>T | CA065747 | SCN5A | c.843G>A (p.Val281=) c.714G>A (p.Val238=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38609826A>C | CA352150553 | SCN5A | c.842T>G (p.Val281Gly) c.713T>G (p.Val238Gly) | |
| 3 | g.38609826A>G | CA352150554 | SCN5A | c.842T>C (p.Val281Ala) c.713T>C (p.Val238Ala) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38609826A>T | CA352150555 | SCN5A | c.842T>A (p.Val281Glu) c.713T>A (p.Val238Glu) | |
| 3 | g.38609826_38609827delinsAC | CA1358587676 | SCN5A | c.841_842delinsGT (p.Val281=) c.712_713delinsGT (p.Val238=) | |
| 3 | g.38609827del | CA1358587677 | SCN5A | c.841del (p.Val281CysfsTer?) c.712del (p.Val238CysfsTer?) | dbSNP |
| 3 | g.38609827C>A | CA352150560 | SCN5A | c.841G>T (p.Val281Leu) c.712G>T (p.Val238Leu) | |
| 3 | g.38609827C= | CA1358587678 | SCN5A | c.841G= (p.Val281=) c.712G= (p.Val238=) | |
| 3 | g.38609827C>G | CA352150559 | SCN5A | c.841G>C (p.Val281Leu) c.712G>C (p.Val238Leu) | |
| 3 | g.38609827C>T | CA065741 | SCN5A | c.841G>A (p.Val281Met) c.712G>A (p.Val238Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38609828G>A | CA065736 | SCN5A | c.840C>T (p.Cys280=) c.711C>T (p.Cys237=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609828G>C | CA352150563 | SCN5A | c.840C>G (p.Cys280Trp) c.711C>G (p.Cys237Trp) | gnomAD v4 |
| 3 | g.38609828G= | CA1358587679 | SCN5A | c.840C= (p.Cys280=) c.711C= (p.Cys237=) | |
| 3 | g.38609828G>T | CA352150565 | SCN5A | c.840C>A (p.Cys280Ter) c.711C>A (p.Cys237Ter) | ClinVar dbSNP |
| 3 | g.38609829del | CA2739292407 | SCN5A | c.839del (p.Cys280SerfsTer?) c.710del (p.Cys237SerfsTer?) | |
| 3 | g.38609829C>A | CA352150567 | SCN5A | c.839G>T (p.Cys280Phe) c.710G>T (p.Cys237Phe) | |
| 3 | g.38609829C>G | CA352150568 | SCN5A | c.839G>C (p.Cys280Ser) c.710G>C (p.Cys237Ser) | |
| 3 | g.38609829C>T | CA352150570 | SCN5A | c.839G>A (p.Cys280Tyr) c.710G>A (p.Cys237Tyr) | |
| 3 | g.38609830A>C | CA352150572 | SCN5A | c.838T>G (p.Cys280Gly) c.709T>G (p.Cys237Gly) | |
| 3 | g.38609830A>G | CA352150576 | SCN5A | c.838T>C (p.Cys280Arg) c.709T>C (p.Cys237Arg) | |
| 3 | g.38609830A>T | CA352150574 | SCN5A | c.838T>A (p.Cys280Ser) c.709T>A (p.Cys237Ser) | |
| 3 | g.38609831C>A | CA352150577 | SCN5A | c.837G>T (p.Lys279Asn) c.708G>T (p.Lys236Asn) | |
| 3 | g.38609831C>G | CA352150579 | SCN5A | c.837G>C (p.Lys279Asn) c.708G>C (p.Lys236Asn) | |
| 3 | g.38609831C>T | CA433138310 | SCN5A | c.837G>A (p.Lys279=) c.708G>A (p.Lys236=) | |
| 3 | g.38609832T>A | CA352150581 | SCN5A | c.836A>T (p.Lys279Met) c.707A>T (p.Lys236Met) | |
| 3 | g.38609832T>C | CA352150583 | SCN5A | c.836A>G (p.Lys279Arg) c.707A>G (p.Lys236Arg) | ClinVar dbSNP |
| 3 | g.38609832T>G | CA352150584 | SCN5A | c.836A>C (p.Lys279Thr) c.707A>C (p.Lys236Thr) | |
| 3 | g.38609833T>A | CA352150587 | SCN5A | c.835A>T (p.Lys279Ter) c.706A>T (p.Lys236Ter) | dbSNP |
| 3 | g.38609833T>C | CA352150588 | SCN5A | c.835A>G (p.Lys279Glu) c.706A>G (p.Lys236Glu) | |
| 3 | g.38609833T>G | CA352150589 | SCN5A | c.835A>C (p.Lys279Gln) c.706A>C (p.Lys236Gln) | |
| 3 | g.38609833T= | CA1358587680 | SCN5A | c.835A= (p.Lys279=) c.706A= (p.Lys236=) | |
| 3 | g.38609834G>A | CA065727 | SCN5A | c.834C>T (p.His278=) c.705C>T (p.His235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38609834G>C | CA352150590 | SCN5A | c.834C>G (p.His278Gln) c.705C>G (p.His235Gln) | |
| 3 | g.38609834G= | CA1358587681 | SCN5A | c.834C= (p.His278=) c.705C= (p.His235=) | |
| 3 | g.38609834G>T | CA352150591 | SCN5A | c.834C>A (p.His278Gln) c.705C>A (p.His235Gln) | dbSNP |
| 3 | g.38609835T>A | CA352150595 | SCN5A | c.833A>T (p.His278Leu) c.704A>T (p.His235Leu) | |
| 3 | g.38609835T>C | CA352150597 | SCN5A | c.833A>G (p.His278Arg) c.704A>G (p.His235Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38609835T>G | CA352150593 | SCN5A | c.833A>C (p.His278Pro) c.704A>C (p.His235Pro) | |
| 3 | g.38609835T= | CA1358587682 | SCN5A | c.833A= (p.His278=) c.704A= (p.His235=) | |
| 3 | g.38609836G>A | CA352150599 | SCN5A | c.832C>T (p.His278Tyr) c.703C>T (p.His235Tyr) | ClinVar dbSNP |
| 3 | g.38609836G>C | CA019839 | SCN5A | c.832C>G (p.His278Asp) c.703C>G (p.His235Asp) | ClinVar dbSNP |
| 3 | g.38609836G= | CA1358587683 | SCN5A | c.832C= (p.His278=) c.703C= (p.His235=) | |
| 3 | g.38609836G>T | CA352150601 | SCN5A | c.832C>A (p.His278Asn) c.703C>A (p.His235Asn) | |
| 3 | g.38609837C>A | CA352150602 | SCN5A | c.831G>T (p.Arg277Ser) c.702G>T (p.Arg234Ser) | |
| 3 | g.38609837C= | CA1358587684 | SCN5A | c.831G= (p.Arg277=) c.702G= (p.Arg234=) | |
| 3 | g.38609837C>G | CA352150604 | SCN5A | c.831G>C (p.Arg277Ser) c.702G>C (p.Arg234Ser) | |
| 3 | g.38609837C>T | CA433138311 | SCN5A | c.831G>A (p.Arg277=) c.702G>A (p.Arg234=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38609838C>A | CA352150606 | SCN5A | c.830G>T (p.Arg277Met) c.701G>T (p.Arg234Met) | |
| 3 | g.38609838C>G | CA352150608 | SCN5A | c.830G>C (p.Arg277Thr) c.701G>C (p.Arg234Thr) | |
| 3 | g.38609838C>T | CA352150609 | SCN5A | c.830G>A (p.Arg277Lys) c.701G>A (p.Arg234Lys) | |
| 3 | g.38609839T>A | CA352150611 | SCN5A | c.829A>T (p.Arg277Trp) c.700A>T (p.Arg234Trp) | |
| 3 | g.38609839T>C | CA352150613 | SCN5A | c.829A>G (p.Arg277Gly) c.700A>G (p.Arg234Gly) | |
| 3 | g.38609839T>G | CA433138312 | SCN5A | c.829A>C (p.Arg277=) c.700A>C (p.Arg234=) | |
| 3 | g.38609840T>A | CA433138313 | SCN5A | c.828A>T (p.Leu276=) c.699A>T (p.Leu233=) | |
| 3 | g.38609840T>C | CA433138314 | SCN5A | c.828A>G (p.Leu276=) c.699A>G (p.Leu233=) | |
| 3 | g.38609840T>G | CA433138315 | SCN5A | c.828A>C (p.Leu276=) c.699A>C (p.Leu233=) | |
| 3 | g.38609841A= | CA1358587685 | SCN5A | c.827T= (p.Leu276=) c.698T= (p.Leu233=) | |
| 3 | g.38609841A>C | CA352150614 | SCN5A | c.827T>G (p.Leu276Arg) c.698T>G (p.Leu233Arg) | |
| 3 | g.38609841A>G | CA352150616 | SCN5A | c.827T>C (p.Leu276Pro) c.698T>C (p.Leu233Pro) | |
| 3 | g.38609841A>T | CA019833 | SCN5A | c.827T>A (p.Leu276Gln) c.698T>A (p.Leu233Gln) | ClinVar dbSNP |
| 3 | g.38609842G>A | CA433138316 | SCN5A | c.826C>T (p.Leu276=) c.697C>T (p.Leu233=) | COSMIC COSMIC COSMIC |
| 3 | g.38609842G>C | CA352150621 | SCN5A | c.826C>G (p.Leu276Val) c.697C>G (p.Leu233Val) | |
| 3 | g.38609842G= | CA1358587686 | SCN5A | c.826C= (p.Leu276=) c.697C= (p.Leu233=) | |
| 3 | g.38609842G>T | CA352150619 | SCN5A | c.826C>A (p.Leu276Ile) c.697C>A (p.Leu233Ile) | ClinVar dbSNP |
| 3 | g.38609843G>A | CA433138320 | SCN5A | c.825C>T (p.Asn275=) c.696C>T (p.Asn232=) | |
| 3 | g.38609843G>C | CA352150624 | SCN5A | c.825C>G (p.Asn275Lys) c.696C>G (p.Asn232Lys) | |
| 3 | g.38609843G= | CA1358587687 | SCN5A | c.825C= (p.Asn275=) c.696C= (p.Asn232=) | |
| 3 | g.38609843G>T | CA019829 | SCN5A | c.825C>A (p.Asn275Lys) c.696C>A (p.Asn232Lys) | ClinVar dbSNP |
| 3 | g.38609844T>A | CA352150626 | SCN5A | c.824A>T (p.Asn275Ile) c.695A>T (p.Asn232Ile) | |
| 3 | g.38609844T>C | CA352150627 | SCN5A | c.824A>G (p.Asn275Ser) c.695A>G (p.Asn232Ser) | |
| 3 | g.38609844T>G | CA352150628 | SCN5A | c.824A>C (p.Asn275Thr) c.695A>C (p.Asn232Thr) | |
| 3 | g.38609845T>A | CA352150633 | SCN5A | c.823A>T (p.Asn275Tyr) c.694A>T (p.Asn232Tyr) | |
| 3 | g.38609845T>C | CA352150632 | SCN5A | c.823A>G (p.Asn275Asp) c.694A>G (p.Asn232Asp) | |
| 3 | g.38609845T>G | CA352150630 | SCN5A | c.823A>C (p.Asn275His) c.694A>C (p.Asn232His) | |
| 3 | g.38609846G>A | CA433138323 | SCN5A | c.822C>T (p.Gly274=) c.693C>T (p.Gly231=) | gnomAD v4 |
| 3 | g.38609846G>C | CA433138324 | SCN5A | c.822C>G (p.Gly274=) c.693C>G (p.Gly231=) | |
| 3 | g.38609846G>T | CA433138325 | SCN5A | c.822C>A (p.Gly274=) c.693C>A (p.Gly231=) | COSMIC |
| 3 | g.38609847C>A | CA352150635 | SCN5A | c.821G>T (p.Gly274Val) c.692G>T (p.Gly231Val) | |
| 3 | g.38609847C>G | CA352150637 | SCN5A | c.821G>C (p.Gly274Ala) c.692G>C (p.Gly231Ala) | |
| 3 | g.38609847C>T | CA352150639 | SCN5A | c.821G>A (p.Gly274Asp) c.692G>A (p.Gly231Asp) | |
| 3 | g.38609848C>A | CA352150641 | SCN5A | c.820G>T (p.Gly274Cys) c.691G>T (p.Gly231Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38609848C= | CA1358587688 | SCN5A | c.820G= (p.Gly274=) c.691G= (p.Gly231=) | |
| 3 | g.38609848C>G | CA352150643 | SCN5A | c.820G>C (p.Gly274Arg) c.691G>C (p.Gly231Arg) | dbSNP |
| 3 | g.38609848C>T | CA019822 | SCN5A | c.820G>A (p.Gly274Ser) c.691G>A (p.Gly231Ser) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38609849C>A | CA352150646 | SCN5A | c.819G>T (p.Met273Ile) c.690G>T (p.Met230Ile) | |
| 3 | g.38609849C= | CA1358587689 | SCN5A | c.819G= (p.Met273=) c.690G= (p.Met230=) | |
| 3 | g.38609849C>G | CA352150649 | SCN5A | c.819G>C (p.Met273Ile) c.690G>C (p.Met230Ile) | |
| 3 | g.38609849C>T | CA352150647 | SCN5A | c.819G>A (p.Met273Ile) c.690G>A (p.Met230Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38609850A= | CA1358587690 | SCN5A | c.818T= (p.Met273=) c.689T= (p.Met230=) | |
| 3 | g.38609850A>C | CA352150652 | SCN5A | c.818T>G (p.Met273Arg) c.689T>G (p.Met230Arg) | |
| 3 | g.38609850A>G | CA019816 | SCN5A | c.818T>C (p.Met273Thr) c.689T>C (p.Met230Thr) | ClinVar dbSNP |
| 3 | g.38609850A>T | CA352150653 | SCN5A | c.818T>A (p.Met273Lys) c.689T>A (p.Met230Lys) | ClinVar dbSNP |
| 3 | g.38609851T>A | CA352150655 | SCN5A | c.817A>T (p.Met273Leu) c.688A>T (p.Met230Leu) | |
| 3 | g.38609851T>C | CA352150657 | SCN5A | c.817A>G (p.Met273Val) c.688A>G (p.Met230Val) | gnomAD v4 |
| 3 | g.38609851T>G | CA352150659 | SCN5A | c.817A>C (p.Met273Leu) c.688A>C (p.Met230Leu) | |
| 3 | g.38609852G>A | CA433138329 | SCN5A | c.816C>T (p.Phe272=) c.687C>T (p.Phe229=) | gnomAD v4 |
| 3 | g.38609852G>C | CA352150662 | SCN5A | c.816C>G (p.Phe272Leu) c.687C>G (p.Phe229Leu) | |
| 3 | g.38609852G>T | CA352150660 | SCN5A | c.816C>A (p.Phe272Leu) c.687C>A (p.Phe229Leu) | gnomAD v4 COSMIC |
| 3 | g.38609853A>C | CA352150664 | SCN5A | c.815T>G (p.Phe272Cys) c.686T>G (p.Phe229Cys) | |
| 3 | g.38609853A>G | CA352150666 | SCN5A | c.815T>C (p.Phe272Ser) c.686T>C (p.Phe229Ser) | ClinVar |
| 3 | g.38609853A>T | CA352150668 | SCN5A | c.815T>A (p.Phe272Tyr) c.686T>A (p.Phe229Tyr) | |
| 3 | g.38609854A>C | CA352150670 | SCN5A | c.814T>G (p.Phe272Val) c.685T>G (p.Phe229Val) | |
| 3 | g.38609854A>G | CA352150671 | SCN5A | c.814T>C (p.Phe272Leu) c.685T>C (p.Phe229Leu) | ClinVar |
| 3 | g.38609854A>T | CA352150672 | SCN5A | c.814T>A (p.Phe272Ile) c.685T>A (p.Phe229Ile) | |
| 3 | g.38609855G>A | CA433138333 | SCN5A | c.813C>T (p.Leu271=) c.684C>T (p.Leu228=) | gnomAD v4 |
| 3 | g.38609855G>C | CA433138334 | SCN5A | c.813C>G (p.Leu271=) c.684C>G (p.Leu228=) | gnomAD v4 |
| 3 | g.38609855G>T | CA433138335 | SCN5A | c.813C>A (p.Leu271=) c.684C>A (p.Leu228=) | |
| 3 | g.38609856A>C | CA352150673 | SCN5A | c.812T>G (p.Leu271Arg) c.683T>G (p.Leu228Arg) | |
| 3 | g.38609856A>G | CA352150675 | SCN5A | c.812T>C (p.Leu271Pro) c.683T>C (p.Leu228Pro) | |
| 3 | g.38609856A>T | CA352150674 | SCN5A | c.812T>A (p.Leu271His) c.683T>A (p.Leu228His) | |
| 3 | g.38609856_38609859dup | CA2499216757 | SCN5A | c.809_812dup (p.Phe272AlafsTer?) c.680_683dup (p.Phe229AlafsTer?) | ClinVar dbSNP |
| 3 | g.38609857G>A | CA352150677 | SCN5A | c.811C>T (p.Leu271Phe) c.682C>T (p.Leu228Phe) | |
| 3 | g.38609857G>C | CA352150679 | SCN5A | c.811C>G (p.Leu271Val) c.682C>G (p.Leu228Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38609857G= | CA1358587691 | SCN5A | c.811C= (p.Leu271=) c.682C= (p.Leu228=) | |
| 3 | g.38609857G>T | CA352150681 | SCN5A | c.811C>A (p.Leu271Ile) c.682C>A (p.Leu228Ile) | |
| 3 | g.38609858C>A | CA352150682 | SCN5A | c.810G>T (p.Gln270His) c.681G>T (p.Gln227His) | |
| 3 | g.38609858C>G | CA352150684 | SCN5A | c.810G>C (p.Gln270His) c.681G>C (p.Gln227His) | |
| 3 | g.38609858C>T | CA433138338 | SCN5A | c.810G>A (p.Gln270=) c.681G>A (p.Gln227=) | |
| 3 | g.38609859T>A | CA352150686 | SCN5A | c.809A>T (p.Gln270Leu) c.680A>T (p.Gln227Leu) | |
| 3 | g.38609859T>C | CA352150688 | SCN5A | c.809A>G (p.Gln270Arg) c.680A>G (p.Gln227Arg) | |
| 3 | g.38609859T>G | CA352150689 | SCN5A | c.809A>C (p.Gln270Pro) c.680A>C (p.Gln227Pro) | |
| 3 | g.38609860G>A | CA352150691 | SCN5A | c.808C>T (p.Gln270Ter) c.679C>T (p.Gln227Ter) | |
| 3 | g.38609860G>C | CA352150693 | SCN5A | c.808C>G (p.Gln270Glu) c.679C>G (p.Gln227Glu) | |
| 3 | g.38609860G= | CA1358587692 | SCN5A | c.808C= (p.Gln270=) c.679C= (p.Gln227=) | |
| 3 | g.38609860G>T | CA019808 | SCN5A | c.808C>A (p.Gln270Lys) c.679C>A (p.Gln227Lys) | ClinVar dbSNP |
| 3 | g.38609863_38609876del | CA2586971918 | SCN5A | c.795_808del (p.Leu266AlafsTer?) c.666_679del (p.Leu223AlafsTer?) | |
| 3 | g.38609861C>A | CA433138342 | SCN5A | c.807G>T (p.Leu269=) c.678G>T (p.Leu226=) | |
| 3 | g.38609861C>G | CA433138343 | SCN5A | c.807G>C (p.Leu269=) c.678G>C (p.Leu226=) | |
| 3 | g.38609861C>T | CA433138344 | SCN5A | c.807G>A (p.Leu269=) c.678G>A (p.Leu226=) | |
| 3 | g.38609862A>C | CA352150698 | SCN5A | c.806T>G (p.Leu269Arg) c.677T>G (p.Leu226Arg) | gnomAD v4 |
| 3 | g.38609862A>G | CA352150700 | SCN5A | c.806T>C (p.Leu269Pro) c.677T>C (p.Leu226Pro) | |
| 3 | g.38609862A>T | CA352150697 | SCN5A | c.806T>A (p.Leu269Gln) c.677T>A (p.Leu226Gln) | |
| 3 | g.38609863G>A | CA433138348 | SCN5A | c.805C>T (p.Leu269=) c.676C>T (p.Leu226=) | dbSNP |
| 3 | g.38609863G>C | CA352150702 | SCN5A | c.805C>G (p.Leu269Val) c.676C>G (p.Leu226Val) | gnomAD v4 |
| 3 | g.38609863G= | CA1358587693 | SCN5A | c.805C= (p.Leu269=) c.676C= (p.Leu226=) | |
| 3 | g.38609863G>T | CA352150701 | SCN5A | c.805C>A (p.Leu269Met) c.676C>A (p.Leu226Met) | |
| 3 | g.38609864G>A | CA433138349 | SCN5A | c.804C>T (p.Gly268=) c.675C>T (p.Gly225=) | |
| 3 | g.38609864G>C | CA433138351 | SCN5A | c.804C>G (p.Gly268=) c.675C>G (p.Gly225=) | |
| 3 | g.38609864G>T | CA433138350 | SCN5A | c.804C>A (p.Gly268=) c.675C>A (p.Gly225=) | |
| 3 | g.38609865C>A | CA352150707 | SCN5A | c.803G>T (p.Gly268Val) c.674G>T (p.Gly225Val) | |
| 3 | g.38609865C>G | CA352150704 | SCN5A | c.803G>C (p.Gly268Ala) c.674G>C (p.Gly225Ala) | |
| 3 | g.38609865C>T | CA352150705 | SCN5A | c.803G>A (p.Gly268Asp) c.674G>A (p.Gly225Asp) | |
| 3 | g.38609866C>A | CA352150709 | SCN5A | c.802G>T (p.Gly268Cys) c.673G>T (p.Gly225Cys) | ClinVar dbSNP |
| 3 | g.38609866C= | CA1358587694 | SCN5A | c.802G= (p.Gly268=) c.673G= (p.Gly225=) | |
| 3 | g.38609866C>G | CA352150711 | SCN5A | c.802G>C (p.Gly268Arg) c.673G>C (p.Gly225Arg) | |
| 3 | g.38609866C>T | CA065711 | SCN5A | c.802G>A (p.Gly268Ser) c.673G>A (p.Gly225Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38609867G>A | CA065706 | SCN5A | c.801C>T (p.Ile267=) c.672C>T (p.Ile224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609867G>C | CA352150714 | SCN5A | c.801C>G (p.Ile267Met) c.672C>G (p.Ile224Met) | |
| 3 | g.38609867G= | CA1358587695 | SCN5A | c.801C= (p.Ile267=) c.672C= (p.Ile224=) | |
| 3 | g.38609867G>T | CA065701 | SCN5A | c.801C>A (p.Ile267=) c.672C>A (p.Ile224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609868A>C | CA352150717 | SCN5A | c.800T>G (p.Ile267Ser) c.671T>G (p.Ile224Ser) | |
| 3 | g.38609868A>G | CA352150719 | SCN5A | c.800T>C (p.Ile267Thr) c.671T>C (p.Ile224Thr) | |
| 3 | g.38609868A>T | CA352150720 | SCN5A | c.800T>A (p.Ile267Asn) c.671T>A (p.Ile224Asn) | |
| 3 | g.38609869T>A | CA352150724 | SCN5A | c.799A>T (p.Ile267Phe) c.670A>T (p.Ile224Phe) | |
| 3 | g.38609869T>C | CA72941731 | SCN5A | c.799A>G (p.Ile267Val) c.670A>G (p.Ile224Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38609869T>G | CA352150722 | SCN5A | c.799A>C (p.Ile267Leu) c.670A>C (p.Ile224Leu) | ClinVar |
| 3 | g.38609869T= | CA1358587696 | SCN5A | c.799A= (p.Ile267=) c.670A= (p.Ile224=) | |
| 3 | g.38609870G>A | CA433138354 | SCN5A | c.798C>T (p.Leu266=) c.669C>T (p.Leu223=) | ClinVar dbSNP |
| 3 | g.38609870G>C | CA433138355 | SCN5A | c.798C>G (p.Leu266=) c.669C>G (p.Leu223=) | |
| 3 | g.38609870G= | CA1358587697 | SCN5A | c.798C= (p.Leu266=) c.669C= (p.Leu223=) | |
| 3 | g.38609870G>T | CA433138357 | SCN5A | c.798C>A (p.Leu266=) c.669C>A (p.Leu223=) | ClinVar |
| 3 | g.38609871A= | CA1358587698 | SCN5A | c.797T= (p.Leu266=) c.668T= (p.Leu223=) | |
| 3 | g.38609871A>C | CA352150725 | SCN5A | c.797T>G (p.Leu266Arg) c.668T>G (p.Leu223Arg) | |
| 3 | g.38609871A>G | CA352150726 | SCN5A | c.797T>C (p.Leu266Pro) c.668T>C (p.Leu223Pro) | gnomAD v4 |
| 3 | g.38609871A>T | CA065692 | SCN5A | c.797T>A (p.Leu266His) c.668T>A (p.Leu223His) | dbSNP ExAC gnomAD v2 |
| 3 | g.38609872G>A | CA352150729 | SCN5A | c.796C>T (p.Leu266Phe) c.667C>T (p.Leu223Phe) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38609872G>C | CA352150730 | SCN5A | c.796C>G (p.Leu266Val) c.667C>G (p.Leu223Val) | |
| 3 | g.38609872G= | CA1358587699 | SCN5A | c.796C= (p.Leu266=) c.667C= (p.Leu223=) | |
| 3 | g.38609872G>T | CA352150731 | SCN5A | c.796C>A (p.Leu266Ile) c.667C>A (p.Leu223Ile) | |
| 3 | g.38609873G>A | CA019803 | SCN5A | c.795C>T (p.Ala265=) c.666C>T (p.Ala222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38609873G>C | CA433138359 | SCN5A | c.795C>G (p.Ala265=) c.666C>G (p.Ala222=) | |
| 3 | g.38609873G= | CA1358587700 | SCN5A | c.795C= (p.Ala265=) c.666C= (p.Ala222=) | |
| 3 | g.38609873G>T | CA433138360 | SCN5A | c.795C>A (p.Ala265=) c.666C>A (p.Ala222=) | |
| 3 | g.38609874G>A | CA065685 | SCN5A | c.794C>T (p.Ala265Val) c.665C>T (p.Ala222Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38609874G>C | CA352150734 | SCN5A | c.794C>G (p.Ala265Gly) c.665C>G (p.Ala222Gly) | |
| 3 | g.38609874G= | CA1358587701 | SCN5A | c.794C= (p.Ala265=) c.665C= (p.Ala222=) | |
| 3 | g.38609874G>T | CA352150736 | SCN5A | c.794C>A (p.Ala265Asp) c.665C>A (p.Ala222Asp) | |
| 3 | g.38609875C>A | CA352150737 | SCN5A | c.793G>T (p.Ala265Ser) c.664G>T (p.Ala222Ser) | gnomAD v4 |
| 3 | g.38609875C>G | CA352150739 | SCN5A | c.793G>C (p.Ala265Pro) c.664G>C (p.Ala222Pro) | |
| 3 | g.38609875C>T | CA352150741 | SCN5A | c.793G>A (p.Ala265Thr) c.664G>A (p.Ala222Thr) | |
| 3 | g.38609876A= | CA1358587702 | SCN5A | c.792T= (p.Phe264=) c.663T= (p.Phe221=) | |
| 3 | g.38609876A>C | CA352150745 | SCN5A | c.792T>G (p.Phe264Leu) c.663T>G (p.Phe221Leu) | |
| 3 | g.38609876A>G | CA433138361 | SCN5A | c.792T>C (p.Phe264=) c.663T>C (p.Phe221=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38609876A>T | CA352150743 | SCN5A | c.792T>A (p.Phe264Leu) c.663T>A (p.Phe221Leu) | |
| 3 | g.38609877A>C | CA352150746 | SCN5A | c.791T>G (p.Phe264Cys) c.662T>G (p.Phe221Cys) | |
| 3 | g.38609877A>G | CA352150747 | SCN5A | c.791T>C (p.Phe264Ser) c.662T>C (p.Phe221Ser) | ClinVar |
| 3 | g.38609877A>T | CA352150749 | SCN5A | c.791T>A (p.Phe264Tyr) c.662T>A (p.Phe221Tyr) | |
| 3 | g.38609878A>C | CA352150750 | SCN5A | c.790T>G (p.Phe264Val) c.661T>G (p.Phe221Val) | |
| 3 | g.38609878A>G | CA352150751 | SCN5A | c.790T>C (p.Phe264Leu) c.661T>C (p.Phe221Leu) | |
| 3 | g.38609878A>T | CA352150753 | SCN5A | c.790T>A (p.Phe264Ile) c.661T>A (p.Phe221Ile) | |
| 3 | g.38609879G>A | CA433138362 | SCN5A | c.789C>T (p.Val263=) c.660C>T (p.Val220=) | |
| 3 | g.38609879G>C | CA433138363 | SCN5A | c.789C>G (p.Val263=) c.660C>G (p.Val220=) | |
| 3 | g.38609879G>T | CA433138364 | SCN5A | c.789C>A (p.Val263=) c.660C>A (p.Val220=) | |
| 3 | g.38609880A>C | CA352150756 | SCN5A | c.788T>G (p.Val263Gly) c.659T>G (p.Val220Gly) | |
| 3 | g.38609880A>G | CA352150757 | SCN5A | c.788T>C (p.Val263Ala) c.659T>C (p.Val220Ala) | gnomAD v4 |
| 3 | g.38609880A>T | CA352150759 | SCN5A | c.788T>A (p.Val263Asp) c.659T>A (p.Val220Asp) | gnomAD v4 |
| 3 | g.38609881C>A | CA352150760 | SCN5A | c.787G>T (p.Val263Phe) c.658G>T (p.Val220Phe) | |
| 3 | g.38609881C= | CA1358587703 | SCN5A | c.787G= (p.Val263=) c.658G= (p.Val220=) | |
| 3 | g.38609881C>G | CA352150761 | SCN5A | c.787G>C (p.Val263Leu) c.658G>C (p.Val220Leu) | dbSNP gnomAD v4 |
| 3 | g.38609881C>T | CA019796 | SCN5A | c.787G>A (p.Val263Ile) c.658G>A (p.Val220Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |