| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49620535G>C | CA5497203 | CHAT | c.620G>C (p.Arg207Pro) c.266G>C (p.Arg89Pro) c.374G>C (p.Arg125Pro) n.601G>C c.*351G>C (n.*351G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49620535G>A | CA5497204 | CHAT | c.620G>A (p.Arg207His) c.266G>A (p.Arg89His) c.374G>A (p.Arg125His) n.601G>A c.*351G>A (n.*351G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |