| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38555683C>A | CA018404 | SCN5A | c.4512G>T (p.Lys1504Asn) c.4515G>T (p.Lys1505Asn) c.4461G>T (p.Lys1487Asn) c.4353G>T (p.Lys1451Asn) c.4386G>T (p.Lys1462Asn) c.4458G>T (p.Lys1486Asn) | ClinVar dbSNP |
| 3 | g.38555683C>T | CA433135670 | SCN5A | c.4512G>A (p.Lys1504=) c.4515G>A (p.Lys1505=) c.4461G>A (p.Lys1487=) c.4353G>A (p.Lys1451=) c.4386G>A (p.Lys1462=) c.4458G>A (p.Lys1486=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |