| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.47403613T>C | CA10588846 | GABRB1 | c.737T>C (p.Phe246Ser) c.716T>C (p.Phe239Ser) c.86T>C (p.Phe29Ser) c.638T>C (p.Phe213Ser) | ClinVar dbSNP |
| 4 | g.47403613T= | CA1455317648 | GABRB1 | c.737T= (p.Phe246=) c.716T= (p.Phe239=) c.86T= (p.Phe29=) c.638T= (p.Phe213=) | dbSNP |