| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49620535G>C | CA5497203 | CHAT | c.620G>C (p.Arg207Pro) c.266G>C (p.Arg89Pro) c.374G>C (p.Arg125Pro) n.601G>C c.*351G>C (n.*351G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 10 | g.49620535G>A | CA5497204 | CHAT | c.620G>A (p.Arg207His) c.266G>A (p.Arg89His) c.374G>A (p.Arg125His) n.601G>A c.*351G>A (n.*351G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 10 | g.49620535G>T | CA376727496 | CHAT | c.620G>T (p.Arg207Leu) c.266G>T (p.Arg89Leu) c.374G>T (p.Arg125Leu) n.601G>T c.*351G>T (n.*351G>T) | dbSNP gnomAD v4 |
| 10 | g.49620535G= | CA1908812995 | CHAT | c.620G= (p.Arg207=) c.266G= (p.Arg89=) c.374G= (p.Arg125=) n.601G= c.*351G= (n.*351G=) | dbSNP |