| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.13567084G>A | CA10584423 | GRIN2B | c.2539C>T (p.Arg847Ter) c.69+41519C>T (n.69+41519C>T) n.799C>T c.325C>T (p.Arg109Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.13567084G= | CA2017439065 | GRIN2B | c.2539C= (p.Arg847=) c.69+41519C= (n.69+41519C=) n.799C= c.325C= (p.Arg109=) | dbSNP |