| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.162142216C>G | CA362182059 | GABRG2 | c.823C>G c.942C>G (p.Tyr314Ter) n.713C>G c.905C>G n.76C>G c.537C>G (p.Tyr179Ter) c.822C>G (p.Tyr274Ter) n.884C>G c.699C>G c.213C>G (p.Tyr71Ter) c.750C>G (p.Tyr250Ter) c.*22C>G (n.*22C>G) c.756C>G (p.Tyr252Ter) n.120C>G n.3353C>G c.260C>G c.735C>G (p.Tyr245Ter) c.*424C>G (n.*424C>G) c.943C>G (n.943C>G) c.813C>G (p.Tyr271Ter) c.819C>G (p.Tyr273Ter) c.861C>G (p.Tyr287Ter) c.402C>G (p.Tyr134Ter) | ClinVar dbSNP |
| 5 | g.162142216C>A | CA16618160 | GABRG2 | c.823C>A c.942C>A (p.Tyr314Ter) n.713C>A c.905C>A n.76C>A c.537C>A (p.Tyr179Ter) c.822C>A (p.Tyr274Ter) n.884C>A c.699C>A c.213C>A (p.Tyr71Ter) c.750C>A (p.Tyr250Ter) c.*22C>A (n.*22C>A) c.756C>A (p.Tyr252Ter) n.120C>A n.3353C>A c.260C>A c.735C>A (p.Tyr245Ter) c.*424C>A (n.*424C>A) c.943C>A (n.943C>A) c.813C>A (p.Tyr271Ter) c.819C>A (p.Tyr273Ter) c.861C>A (p.Tyr287Ter) c.402C>A (p.Tyr134Ter) | ClinVar dbSNP |