| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49649569A>G | CA257984 | CHAT | c.1444A>G (p.Arg482Gly) c.*281A>G (n.*281A>G) c.307A>G (p.Arg103Gly) c.1090A>G (p.Arg364Gly) c.1198A>G (p.Arg400Gly) c.*1175A>G (n.*1175A>G) | ClinVar dbSNP gnomAD v4 |
| 10 | g.49649569A>C | CA5497504 | CHAT | c.1444A>C (p.Arg482=) c.*281A>C (n.*281A>C) c.307A>C (p.Arg103=) c.1090A>C (p.Arg364=) c.1198A>C (p.Arg400=) c.*1175A>C (n.*1175A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49649569A= | CA1908831930 | CHAT | c.1444A= (p.Arg482=) c.*281A= (n.*281A=) c.307A= (p.Arg103=) c.1090A= (p.Arg364=) c.1198A= (p.Arg400=) c.*1175A= (n.*1175A=) | dbSNP dbSNP |