| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.13569848G>C | CA16619494 | GRIN2B | c.2341C>G (p.Leu781Val) n.601C>G c.69+38755C>G (n.69+38755C>G) c.127C>G (p.Leu43Val) | ClinVar dbSNP |
| 12 | g.13569848G>T | CA383997990 | GRIN2B | c.2341C>A (p.Leu781Met) n.601C>A c.69+38755C>A (n.69+38755C>A) c.127C>A (p.Leu43Met) | ClinVar dbSNP |
| 12 | g.13569848G= | CA2017440438 | GRIN2B | c.2341C= (p.Leu781=) n.601C= c.69+38755C= (n.69+38755C=) c.127C= (p.Leu43=) | dbSNP |
| 12 | g.13569848G>A | CA478703815 | GRIN2B | c.2341C>T (p.Leu781=) n.601C>T c.69+38755C>T (n.69+38755C>T) c.127C>T (p.Leu43=) | dbSNP gnomAD v4 |