Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38566426C>T | CA017530 | SCN5A | c.3820G>A (p.Asp1274Asn) c.3823G>A (p.Asp1275Asn) c.3661G>A (p.Asp1221Asn) c.3694G>A (p.Asp1232Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38566426C>A | CA017536 | SCN5A | c.3820G>T (p.Asp1274Tyr) c.3823G>T (p.Asp1275Tyr) c.3661G>T (p.Asp1221Tyr) c.3694G>T (p.Asp1232Tyr) | ClinVar dbSNP |