| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.13567193G>T | CA249270 | GRIN2B | c.2430C>A (p.Ser810Arg) n.690C>A c.69+41410C>A (n.69+41410C>A) c.216C>A (p.Ser72Arg) | ClinVar dbSNP |
| 12 | g.13567193G>A | CA478702962 | GRIN2B | c.2430C>T (p.Ser810=) n.690C>T c.69+41410C>T (n.69+41410C>T) c.216C>T (p.Ser72=) | ClinVar dbSNP gnomAD v4 |