| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.47406706C>T | CA10588847 | GABRB1 | c.860C>T (p.Thr287Ile) c.839C>T (p.Thr280Ile) c.209C>T (p.Thr70Ile) c.761C>T (p.Thr254Ile) | ClinVar dbSNP |
| 4 | g.47406706C= | CA1455320415 | GABRB1 | c.860C= (p.Thr287=) c.839C= (p.Thr280=) c.209C= (p.Thr70=) c.761C= (p.Thr254=) | dbSNP |