| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.13564574G>C | CA478848609 | GRIN2B | c.2664C>G (p.Thr888=) c.69+44029C>G (n.69+44029C>G) n.924C>G c.450C>G (p.Thr150=) | dbSNP |
| 12 | g.13564574G>A | CA153046 | GRIN2B | c.2664C>T (p.Thr888=) c.69+44029C>T (n.69+44029C>T) n.924C>T c.450C>T (p.Thr150=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |