| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38620843G>T | CA019632 | SCN5A | c.611C>A (p.Ala204Glu) n.806C>A c.611C>A (p.Ala204Asp) c.482+1557C>A (n.482+1557C>A) | ClinVar dbSNP |
| 3 | g.38620843G>A | CA019639 | SCN5A | c.611C>T (p.Ala204Val) n.806C>T c.482+1557C>T (n.482+1557C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38620843G>C | CA352153392 | SCN5A | c.611C>G (p.Ala204Gly) n.806C>G c.482+1557C>G (n.482+1557C>G) | dbSNP gnomAD v3 gnomAD v4 |