Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38604004C>G | CA352147258 | SCN5A | c.1598G>C (p.Arg533Pro) c.1469G>C (p.Arg490Pro) | dbSNP |
3 | g.38604004C>A | CA352147254 | SCN5A | c.1598G>T (p.Arg533Leu) c.1469G>T (p.Arg490Leu) | dbSNP |
3 | g.38604004C>T | CA015061 | SCN5A | c.1598G>A (p.Arg533His) c.1469G>A (p.Arg490His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |