| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551334C>T | CA018863 | SCN5A | c.5035G>A (p.Ala1679Thr) c.5038G>A (p.Ala1680Thr) c.4984G>A (p.Ala1662Thr) c.4876G>A (p.Ala1626Thr) c.4939G>A (p.Ala1647Thr) c.4909G>A (p.Ala1637Thr) c.4981G>A (p.Ala1661Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551334C>G | CA352142645 | SCN5A | c.5035G>C (p.Ala1679Pro) c.5038G>C (p.Ala1680Pro) c.4984G>C (p.Ala1662Pro) c.4876G>C (p.Ala1626Pro) c.4939G>C (p.Ala1647Pro) c.4909G>C (p.Ala1637Pro) c.4981G>C (p.Ala1661Pro) | dbSNP gnomAD v2 gnomAD v4 |