| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38581170C>A | CA016718 | SCN5A | c.2989G>T (p.Ala997Ser) c.2860G>T (p.Ala954Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581170C>T | CA016710 | SCN5A | c.2989G>A (p.Ala997Thr) c.2860G>A (p.Ala954Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581170C= | CA1358574442 | SCN5A | c.2989G= (p.Ala997=) c.2860G= (p.Ala954=) | dbSNP |