| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.13567164C>A | CA10577443 | GRIN2B | c.2459G>T (p.Gly820Val) n.719G>T c.69+41439G>T (n.69+41439G>T) c.245G>T (p.Gly82Val) | ClinVar dbSNP |
| 12 | g.13567164C>G | CA204589 | GRIN2B | c.2459G>C (p.Gly820Ala) n.719G>C c.69+41439G>C (n.69+41439G>C) c.245G>C (p.Gly82Ala) | ClinVar dbSNP gnomAD v2 |
| 12 | g.13567164C>T | CA383996388 | GRIN2B | c.2459G>A (p.Gly820Glu) n.719G>A c.69+41439G>A (n.69+41439G>A) c.245G>A (p.Gly82Glu) | ClinVar dbSNP |