| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38613769G>T | CA352151530 | SCN5A | c.677C>A (p.Ala226Asp) c.703+206C>A (n.703+206C>A) c.548C>A (p.Ala183Asp) | ClinVar dbSNP |
| 3 | g.38613769G>A | CA019724 | SCN5A | c.677C>T (p.Ala226Val) c.703+206C>T (n.703+206C>T) c.548C>T (p.Ala183Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |