Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38630376G>A | CA061548 | SCN5A | c.327C>T (p.Asn109=) n.240C>T n.522C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38630376G>T | CA016995 | SCN5A | c.327C>A (p.Asn109Lys) n.240C>A n.522C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38630376G= | CA1358594601 | SCN5A | c.327C= (p.Asn109=) n.240C= n.522C= | dbSNP |