| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49649618C>A | CA376744042 | CHAT | c.1493C>A (p.Ser498Ter) c.*330C>A (n.*330C>A) c.356C>A (p.Ser119Ter) c.1139C>A (p.Ser380Ter) c.1247C>A (p.Ser416Ter) c.*1224C>A (n.*1224C>A) | dbSNP |
| 10 | g.49649618C>T | CA257993 | CHAT | c.1493C>T (p.Ser498Leu) c.*330C>T (n.*330C>T) c.356C>T (p.Ser119Leu) c.1139C>T (p.Ser380Leu) c.1247C>T (p.Ser416Leu) c.*1224C>T (n.*1224C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |