| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.9829502G>T | CA10584094 | GRIN2A | c.1928C>A (p.Ala643Asp) c.1457C>A (p.Ala486Asp) n.1521C>A c.1517C>A (p.Ala506Asp) n.1567C>A c.1769C>A (p.Ala590Asp) c.1670C>A (p.Ala557Asp) c.2084C>A (p.Ala695Asp) | ClinVar dbSNP |
| 16 | g.9829502G= | CA2206727002 | GRIN2A | c.1928C= (p.Ala643=) c.1457C= (p.Ala486=) n.1521C= c.1517C= (p.Ala506=) n.1567C= c.1769C= (p.Ala590=) c.1670C= (p.Ala557=) c.2084C= (p.Ala695=) | dbSNP |
| 16 | g.9829502G>A | CA394799374 | GRIN2A | c.1928C>T (p.Ala643Val) c.1457C>T (p.Ala486Val) n.1521C>T c.1517C>T (p.Ala506Val) n.1567C>T c.1769C>T (p.Ala590Val) c.1670C>T (p.Ala557Val) c.2084C>T (p.Ala695Val) | dbSNP gnomAD v4 |