| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49622125C>T | CA152358 | CHAT | c.727C>T (p.Leu243Phe) c.373C>T (p.Leu125Phe) c.481C>T (p.Leu161Phe) n.708C>T c.*458C>T (n.*458C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49622125C= | CA1908817385 | CHAT | c.727C= (p.Leu243=) c.373C= (p.Leu125=) c.481C= (p.Leu161=) n.708C= c.*458C= (n.*458C=) | dbSNP |