| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13359724C>T | CA254492 | CACNA1A | c.860G>A (p.Cys287Tyr) n.575G>A n.219G>A c.719G>A (p.Cys240Tyr) n.713G>A c.1055G>A (p.Cys352Tyr) n.80G>A | ClinVar dbSNP |
| 19 | g.13359724C= | CA2323854364 | CACNA1A | c.860G= (p.Cys287=) n.575G= n.219G= c.719G= (p.Cys240=) n.713G= c.1055G= (p.Cys352=) n.80G= | dbSNP |