| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38554498C>T | CA018450 | SCN5A | c.4591G>A (p.Val1531Ile) c.4594G>A (p.Val1532Ile) c.4540G>A (p.Val1514Ile) c.4432G>A (p.Val1478Ile) n.52G>A c.4465G>A (p.Val1489Ile) c.4537G>A (p.Val1513Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554498C>A | CA018456 | SCN5A | c.4591G>T (p.Val1531Phe) c.4594G>T (p.Val1532Phe) c.4540G>T (p.Val1514Phe) c.4432G>T (p.Val1478Phe) n.52G>T c.4465G>T (p.Val1489Phe) c.4537G>T (p.Val1513Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |