| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49627681T>C | CA258002 | CHAT | c.1007T>C (p.Ile336Thr) c.653T>C (p.Ile218Thr) c.761T>C (p.Ile254Thr) c.*738T>C (n.*738T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49627681T= | CA1908803210 | CHAT | c.1007T= (p.Ile336=) c.653T= (p.Ile218=) c.761T= (p.Ile254=) c.*738T= (n.*738T=) | dbSNP |