| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161411034A>G | CA16604729 | GABRB2 | c.482T>C (p.Met161Thr) n.564T>C c.230T>C (p.Met77Thr) c.2T>C (p.Met1Thr) c.293T>C (p.Met98Thr) | ClinVar dbSNP |
| 5 | g.161411034A= | CA1596016642 | GABRB2 | c.482T= (p.Met161=) n.564T= c.230T= (p.Met77=) c.2T= (p.Met1=) c.293T= (p.Met98=) | dbSNP |