| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38575379C>G | CA352138155 | SCN5A | c.3581G>C (p.Arg1194Pro) c.3584G>C (p.Arg1195Pro) c.3422G>C (p.Arg1141Pro) c.3455G>C (p.Arg1152Pro) | dbSNP gnomAD v2 |
| 3 | g.38575379C>T | CA017297 | SCN5A | c.3581G>A (p.Arg1194His) c.3584G>A (p.Arg1195His) c.3422G>A (p.Arg1141His) c.3455G>A (p.Arg1152His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |