| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49619755C>T | CA275188 | CHAT | c.418C>T (p.Gln140Ter) c.64C>T (p.Gln22Ter) c.172C>T (p.Gln58Ter) n.399C>T c.*149C>T (n.*149C>T) n.216C>T n.468C>T | ClinVar dbSNP |
| 10 | g.49619755C= | CA1908811180 | CHAT | c.418C= (p.Gln140=) c.64C= (p.Gln22=) c.172C= (p.Gln58=) n.399C= c.*149C= (n.*149C=) n.216C= n.468C= | dbSNP |