| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49619743G>A | CA5497135 | CHAT | c.406G>A (p.Val136Met) c.52G>A (p.Val18Met) c.160G>A (p.Val54Met) n.387G>A c.*137G>A (n.*137G>A) n.204G>A n.456G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 10 | g.49619743G= | CA1908811106 | CHAT | c.406G= (p.Val136=) c.52G= (p.Val18=) c.160G= (p.Val54=) n.387G= c.*137G= (n.*137G=) n.204G= n.456G= | dbSNP |