| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38566465C>T | CA017513 | SCN5A | c.3781G>A (p.Gly1261Ser) c.3784G>A (p.Gly1262Ser) c.3622G>A (p.Gly1208Ser) c.3655G>A (p.Gly1219Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38566465C>A | CA352149068 | SCN5A | c.3781G>T (p.Gly1261Cys) c.3784G>T (p.Gly1262Cys) c.3622G>T (p.Gly1208Cys) c.3655G>T (p.Gly1219Cys) | ClinVar dbSNP |