| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13371745G>A | CA16043551 | CACNA1A | c.574C>T (p.Arg192Trp) n.289C>T n.462C>T c.433C>T (p.Arg145Trp) n.427C>T n.392C>T c.769C>T (p.Arg257Trp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.13371745G= | CA2323860172 | CACNA1A | c.574C= (p.Arg192=) n.289C= n.462C= c.433C= (p.Arg145=) n.427C= n.392C= c.769C= (p.Arg257=) | dbSNP |