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