| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.13567108C>A | CA383996189 | GRIN2B | c.2515G>T (p.Glu839Ter) c.69+41495G>T (n.69+41495G>T) n.775G>T c.301G>T (p.Glu101Ter) | dbSNP |
| 12 | g.13567108C>T | CA383996186 | GRIN2B | c.2515G>A (p.Glu839Lys) c.69+41495G>A (n.69+41495G>A) n.775G>A c.301G>A (p.Glu101Lys) | ClinVar dbSNP COSMIC |
| 12 | g.13567108C= | CA2017439077 | GRIN2B | c.2515G= (p.Glu839=) c.69+41495G= (n.69+41495G=) n.775G= c.301G= (p.Glu101=) | dbSNP |