| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49655139G>A | CA257987 | CHAT | c.1679G>A (p.Arg560His) c.*516G>A (n.*516G>A) n.316G>A c.542G>A (p.Arg181His) c.1325G>A (p.Arg442His) c.1433G>A (p.Arg478His) c.*1410G>A (n.*1410G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49655139G= | CA1908834653 | CHAT | c.1679G= (p.Arg560=) c.*516G= (n.*516G=) n.316G= c.542G= (p.Arg181=) c.1325G= (p.Arg442=) c.1433G= (p.Arg478=) c.*1410G= (n.*1410G=) | dbSNP |