| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33432709A>T | CA118186 | SYNGAP1 | c.154A>T (p.Lys52Ter) c.412A>T (p.Lys138Ter) c.235A>T (p.Lys79Ter) c.367A>T (p.Lys123Ter) n.607A>T | ClinVar dbSNP |
| 6 | g.33432709A= | CA1620010184 | SYNGAP1 | c.154A= (p.Lys52=) c.412A= (p.Lys138=) c.235A= (p.Lys79=) c.367A= (p.Lys123=) n.607A= | dbSNP |