| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161891045T>C | CA248019 | GABRA1 | c.851T>C (p.Val284Ala) n.2452T>C c.*700T>C (n.*700T>C) n.655T>C c.*625T>C (n.*625T>C) c.896T>C (p.Val299Ala) | ClinVar dbSNP |
| 5 | g.161891045T= | CA1596255585 | GABRA1 | c.851T= (p.Val284=) n.2452T= c.*700T= (n.*700T=) n.655T= c.*625T= (n.*625T=) c.896T= (p.Val299=) | dbSNP |