| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38554530A>T | CA018424 | SCN5A | c.4559T>A (p.Ile1520Lys) c.4562T>A (p.Ile1521Lys) c.4508T>A (p.Ile1503Lys) c.4400T>A (p.Ile1467Lys) n.20T>A c.4433T>A (p.Ile1478Lys) c.4505T>A (p.Ile1502Lys) | ClinVar dbSNP |
| 3 | g.38554530A>G | CA72942498 | SCN5A | c.4559T>C (p.Ile1520Thr) c.4562T>C (p.Ile1521Thr) c.4508T>C (p.Ile1503Thr) c.4400T>C (p.Ile1467Thr) n.20T>C c.4433T>C (p.Ile1478Thr) c.4505T>C (p.Ile1502Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |