| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38550359G>A | CA065192 | SCN5A | c.6010C>T (p.Pro2004Ser) c.6013C>T (p.Pro2005Ser) c.5959C>T (p.Pro1987Ser) c.5851C>T (p.Pro1951Ser) c.5914C>T (p.Pro1972Ser) c.5884C>T (p.Pro1962Ser) c.5956C>T (p.Pro1986Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550359G>C | CA019590 | SCN5A | c.6010C>G (p.Pro2004Ala) c.6013C>G (p.Pro2005Ala) c.5959C>G (p.Pro1987Ala) c.5851C>G (p.Pro1951Ala) c.5914C>G (p.Pro1972Ala) c.5884C>G (p.Pro1962Ala) c.5956C>G (p.Pro1986Ala) | ClinVar dbSNP |