| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161895749G>A | CA16618157 | GABRA1 | c.940G>A (p.Asp314Asn) n.2541G>A c.*789G>A (n.*789G>A) n.744G>A c.*714G>A (n.*714G>A) c.985G>A (p.Asp329Asn) | ClinVar dbSNP COSMIC |
| 5 | g.161895749G= | CA1596258159 | GABRA1 | c.940G= (p.Asp314=) n.2541G= c.*789G= (n.*789G=) n.744G= c.*714G= (n.*714G=) c.985G= (p.Asp329=) | dbSNP |