| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.9834148G>A | CA493685188 | GRIN2A | c.1734C>T (p.Tyr578=) c.1263C>T (p.Tyr421=) n.1327C>T n.2218C>T c.1323C>T (p.Tyr441=) n.1373C>T c.1575C>T (p.Tyr525=) c.1476C>T (p.Tyr492=) c.1890C>T (p.Tyr630=) | ClinVar dbSNP |
| 16 | g.9834148G>C | CA16615062 | GRIN2A | c.1734C>G (p.Tyr578Ter) c.1263C>G (p.Tyr421Ter) n.1327C>G n.2218C>G c.1323C>G (p.Tyr441Ter) n.1373C>G c.1575C>G (p.Tyr525Ter) c.1476C>G (p.Tyr492Ter) c.1890C>G (p.Tyr630Ter) | ClinVar dbSNP |