| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.9840781A>T | CA394800460 | GRIN2A | c.1517T>A (p.Val506Asp) c.1046T>A (p.Val349Asp) n.1110T>A n.2001T>A c.1106T>A (p.Val369Asp) n.1156T>A c.1358T>A (p.Val453Asp) c.1259T>A (p.Val420Asp) c.1673T>A (p.Val558Asp) | dbSNP |
| 16 | g.9840781A>C | CA394800461 | GRIN2A | c.1517T>G (p.Val506Gly) c.1046T>G (p.Val349Gly) n.1110T>G n.2001T>G c.1106T>G (p.Val369Gly) n.1156T>G c.1358T>G (p.Val453Gly) c.1259T>G (p.Val420Gly) c.1673T>G (p.Val558Gly) | dbSNP |
| 16 | g.9840781A>G | CA314935 | GRIN2A | c.1517T>C (p.Val506Ala) c.1046T>C (p.Val349Ala) n.1110T>C n.2001T>C c.1106T>C (p.Val369Ala) n.1156T>C c.1358T>C (p.Val453Ala) c.1259T>C (p.Val420Ala) c.1673T>C (p.Val558Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |