| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33432806G>A | CA16044319 | SYNGAP1 | c.251G>A (p.Arg84Gln) c.509G>A (p.Arg170Gln) c.332G>A (p.Arg111Gln) c.464G>A (p.Arg155Gln) n.704G>A | ClinVar dbSNP |
| 6 | g.33432806G= | CA1620010217 | SYNGAP1 | c.251G= (p.Arg84=) c.509G= (p.Arg170=) c.332G= (p.Arg111=) c.464G= (p.Arg155=) n.704G= | dbSNP |