| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.9768996A>C | CA16620322 | GRIN2A | c.2450T>G (p.Met817Arg) c.1979T>G (p.Met660Arg) n.2043T>G c.2357-4048T>G (n.2357-4048T>G) c.2039T>G (p.Met680Arg) n.2089T>G n.233T>G c.2291T>G (p.Met764Arg) c.2192T>G (p.Met731Arg) c.2606T>G (p.Met869Arg) | ClinVar dbSNP |
| 16 | g.9768996A>G | CA394710109 | GRIN2A | c.2450T>C (p.Met817Thr) c.1979T>C (p.Met660Thr) n.2043T>C c.2357-4048T>C (n.2357-4048T>C) c.2039T>C (p.Met680Thr) n.2089T>C n.233T>C c.2291T>C (p.Met764Thr) c.2192T>C (p.Met731Thr) c.2606T>C (p.Met869Thr) | ClinVar dbSNP |