| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161331056C>T | CA362175375 | GABRB2 | c.904G>A (p.Val302Met) n.986G>A c.*363G>A (n.*363G>A) c.652G>A (p.Val218Met) c.154G>A (p.Val52Met) c.424G>A (p.Val142Met) c.715G>A (p.Val239Met) | ClinVar dbSNP |
| 5 | g.161331056C= | CA1595983870 | GABRB2 | c.904G= (p.Val302=) n.986G= c.*363G= (n.*363G=) c.652G= (p.Val218=) c.154G= (p.Val52=) c.424G= (p.Val142=) c.715G= (p.Val239=) | dbSNP |