| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38554450C>T | CA018462 | SCN5A | c.4639G>A (p.Glu1547Lys) c.4642G>A (p.Glu1548Lys) c.4588G>A (p.Glu1530Lys) c.4480G>A (p.Glu1494Lys) n.100G>A c.4513G>A (p.Glu1505Lys) c.4585G>A (p.Glu1529Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38554450C>A | CA352143943 | SCN5A | c.4639G>T (p.Glu1547Ter) c.4642G>T (p.Glu1548Ter) c.4588G>T (p.Glu1530Ter) c.4480G>T (p.Glu1494Ter) n.100G>T c.4513G>T (p.Glu1505Ter) c.4585G>T (p.Glu1529Ter) | dbSNP |