| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161895774C>A | CA214959 | GABRA1 | c.965C>A (p.Ala322Asp) n.2566C>A c.*814C>A (n.*814C>A) n.769C>A c.*739C>A (n.*739C>A) c.1010C>A (p.Ala337Asp) | ClinVar dbSNP |
| 5 | g.161895774C= | CA1596258167 | GABRA1 | c.965C= (p.Ala322=) n.2566C= c.*814C= (n.*814C=) n.769C= c.*739C= (n.*739C=) c.1010C= (p.Ala337=) | dbSNP |