| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38606037C>T | CA352148668 | SCN5A | c.1252G>A (p.Glu418Lys) c.1123G>A (p.Glu375Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38606037C>A | CA352012 | SCN5A | c.1252G>T (p.Glu418Ter) c.1123G>T (p.Glu375Ter) | ClinVar dbSNP |
| 3 | g.38606037C= | CA1358585953 | SCN5A | c.1252G= (p.Glu418=) c.1123G= (p.Glu375=) | dbSNP |