| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551345A>T | CA352142695 | SCN5A | c.5024T>A (p.Met1675Lys) c.5027T>A (p.Met1676Lys) c.4973T>A (p.Met1658Lys) c.4865T>A (p.Met1622Lys) c.4928T>A (p.Met1643Lys) c.4898T>A (p.Met1633Lys) c.4970T>A (p.Met1657Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551345A>G | CA018860 | SCN5A | c.5024T>C (p.Met1675Thr) c.5027T>C (p.Met1676Thr) c.4973T>C (p.Met1658Thr) c.4865T>C (p.Met1622Thr) c.4928T>C (p.Met1643Thr) c.4898T>C (p.Met1633Thr) c.4970T>C (p.Met1657Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |