| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33446584del | CA207942 | SYNGAP1,SYNGAP1-AS1 | c.3334del (p.Tyr1112ThrfsTer8) c.3592del (p.Tyr1198ThrfsTer8) c.3544del (p.Tyr1182ThrfsTer8) c.3415del (p.Tyr1139ThrfsTer8) c.3547del (p.Tyr1183ThrfsTer8) n.329+22del | ClinVar dbSNP |
| 6 | g.33446584T= | CA3135080595 | SYNGAP1,SYNGAP1-AS1 | c.3334T= (p.Tyr1112=) c.3592T= (p.Tyr1198=) c.3544T= (p.Tyr1182=) c.3415T= (p.Tyr1139=) c.3547T= (p.Tyr1183=) n.329+22A= | dbSNP |