| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.9938314G>A | CA128600 | GRIN2A | c.652C>T (p.Gln218Ter) c.181C>T (p.Gln61Ter) n.245C>T c.244C>T (p.Gln82Ter) n.1136C>T c.241C>T (p.Gln81Ter) n.291C>T n.494C>T n.241-47214C>T n.544C>T c.493C>T (p.Gln165Ter) c.394C>T (p.Gln132Ter) c.808C>T (p.Gln270Ter) | ClinVar dbSNP |
| 16 | g.9938314G= | CA2206782720 | GRIN2A | c.652C= (p.Gln218=) c.181C= (p.Gln61=) n.245C= c.244C= (p.Gln82=) n.1136C= c.241C= (p.Gln81=) n.291C= n.494C= n.241-47214C= n.544C= c.493C= (p.Gln165=) c.394C= (p.Gln132=) c.808C= (p.Gln270=) | dbSNP |