| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.13359707C>T | CA254437 | CACNA1A | c.877G>A (p.Gly293Arg) n.592G>A n.236G>A c.736G>A (p.Gly246Arg) n.730G>A c.1072G>A (p.Gly358Arg) n.97G>A | ClinVar dbSNP |
| 19 | g.13359707C= | CA2323854356 | CACNA1A | c.877G= (p.Gly293=) n.592G= n.236G= c.736G= (p.Gly246=) n.730G= c.1072G= (p.Gly358=) n.97G= | dbSNP |