| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.9938479G>A | CA16608367 | GRIN2A | c.487C>T (p.Gln163Ter) c.16C>T (p.Gln6Ter) n.80C>T c.79C>T (p.Gln27Ter) n.971C>T c.76C>T (p.Gln26Ter) n.126C>T n.329C>T n.241-47379C>T n.379C>T c.328C>T (p.Gln110Ter) c.229C>T (p.Gln77Ter) c.643C>T (p.Gln215Ter) | ClinVar dbSNP gnomAD v4 |
| 16 | g.9938479G= | CA2206782799 | GRIN2A | c.487C= (p.Gln163=) c.16C= (p.Gln6=) n.80C= c.79C= (p.Gln27=) n.971C= c.76C= (p.Gln26=) n.126C= n.329C= n.241-47379C= n.379C= c.328C= (p.Gln110=) c.229C= (p.Gln77=) c.643C= (p.Gln215=) | dbSNP |