| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.137149087C>T | CA375714555 | GRIN1 | c.712C>T (p.Arg238Trp) c.649C>T (p.Arg217Trp) n.272C>T n.79C>T n.726C>T | ClinVar dbSNP gnomAD v4 |
| 9 | g.137149087C>A | CA5360724 | GRIN1 | c.712C>A (p.Arg238=) c.649C>A (p.Arg217=) n.272C>A n.79C>A n.726C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |