| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 10 | g.49646651C>T | CA257999 | CHAT | c.1258C>T (p.Arg420Cys) c.121C>T (p.Arg41Cys) c.904C>T (p.Arg302Cys) c.1012C>T (p.Arg338Cys) c.*989C>T (n.*989C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 10 | g.49646651C>A | CA376740757 | CHAT | c.1258C>A (p.Arg420Ser) c.121C>A (p.Arg41Ser) c.904C>A (p.Arg302Ser) c.1012C>A (p.Arg338Ser) c.*989C>A (n.*989C>A) | dbSNP gnomAD v4 |
| 10 | g.49646651C= | CA1908830432 | CHAT | c.1258C= (p.Arg420=) c.121C= (p.Arg41=) c.904C= (p.Arg302=) c.1012C= (p.Arg338=) c.*989C= (n.*989C=) | dbSNP |