| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551373C>T | CA018825 | SCN5A | c.4996G>A (p.Val1666Ile) c.4999G>A (p.Val1667Ile) c.4945G>A (p.Val1649Ile) c.4837G>A (p.Val1613Ile) c.4900G>A (p.Val1634Ile) c.4870G>A (p.Val1624Ile) c.4942G>A (p.Val1648Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551373C>G | CA018830 | SCN5A | c.4996G>C (p.Val1666Leu) c.4999G>C (p.Val1667Leu) c.4945G>C (p.Val1649Leu) c.4837G>C (p.Val1613Leu) c.4900G>C (p.Val1634Leu) c.4870G>C (p.Val1624Leu) c.4942G>C (p.Val1648Leu) | ClinVar dbSNP |