| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49620544T>C | CA257990 | CHAT | c.629T>C (p.Leu210Pro) c.275T>C (p.Leu92Pro) c.383T>C (p.Leu128Pro) n.610T>C c.*360T>C (n.*360T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49620544T= | CA1908813030 | CHAT | c.629T= (p.Leu210=) c.275T= (p.Leu92=) c.383T= (p.Leu128=) n.610T= c.*360T= (n.*360T=) | dbSNP |