| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.9829535G>A | CA16603246 | GRIN2A | c.1895C>T (p.Ser632Phe) c.1424C>T (p.Ser475Phe) n.1488C>T c.1484C>T (p.Ser495Phe) n.1534C>T c.1736C>T (p.Ser579Phe) c.1637C>T (p.Ser546Phe) c.2051C>T (p.Ser684Phe) | ClinVar dbSNP |
| 16 | g.9829535G>C | CA394799515 | GRIN2A | c.1895C>G (p.Ser632Cys) c.1424C>G (p.Ser475Cys) n.1488C>G c.1484C>G (p.Ser495Cys) n.1534C>G c.1736C>G (p.Ser579Cys) c.1637C>G (p.Ser546Cys) c.2051C>G (p.Ser684Cys) | dbSNP |
| 16 | g.9829535G= | CA2206727013 | GRIN2A | c.1895C= (p.Ser632=) c.1424C= (p.Ser475=) n.1488C= c.1484C= (p.Ser495=) n.1534C= c.1736C= (p.Ser579=) c.1637C= (p.Ser546=) c.2051C= (p.Ser684=) | dbSNP |