| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.9769019G>T | CA16620323 | GRIN2A | c.2427C>A (p.Ser809Arg) c.1956C>A (p.Ser652Arg) n.2020C>A c.2357-4071C>A (n.2357-4071C>A) c.2016C>A (p.Ser672Arg) n.2066C>A n.210C>A c.2268C>A (p.Ser756Arg) c.2169C>A (p.Ser723Arg) c.2583C>A (p.Ser861Arg) | ClinVar dbSNP |
| 16 | g.9769019G= | CA2206695679 | GRIN2A | c.2427C= (p.Ser809=) c.1956C= (p.Ser652=) n.2020C= c.2357-4071C= (n.2357-4071C=) c.2016C= (p.Ser672=) n.2066C= n.210C= c.2268C= (p.Ser756=) c.2169C= (p.Ser723=) c.2583C= (p.Ser861=) | dbSNP |