| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.9840746G>C | CA394800384 | GRIN2A | c.1552C>G (p.Arg518Gly) c.1081C>G (p.Arg361Gly) n.1145C>G n.2036C>G c.1141C>G (p.Arg381Gly) n.1191C>G c.1393C>G (p.Arg465Gly) c.1294C>G (p.Arg432Gly) c.1708C>G (p.Arg570Gly) | dbSNP |
| 16 | g.9840746G>A | CA315005 | GRIN2A | c.1552C>T (p.Arg518Cys) c.1081C>T (p.Arg361Cys) n.1145C>T n.2036C>T c.1141C>T (p.Arg381Cys) n.1191C>T c.1393C>T (p.Arg465Cys) c.1294C>T (p.Arg432Cys) c.1708C>T (p.Arg570Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9840746G= | CA2206732660 | GRIN2A | c.1552C= (p.Arg518=) c.1081C= (p.Arg361=) n.1145C= n.2036C= c.1141C= (p.Arg381=) n.1191C= c.1393C= (p.Arg465=) c.1294C= (p.Arg432=) c.1708C= (p.Arg570=) | dbSNP |