| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33443468del | CA16618282 | SYNGAP1,SYNGAP1-AS1 | c.2658del (p.Asp888ThrfsTer?) c.2916del (p.Asp974ThrfsTer?) c.2874del (p.Asp960ThrfsTer?) c.2739del (p.Asp915ThrfsTer?) c.2871del (p.Asp959ThrfsTer?) n.329+3138del | ClinVar dbSNP |
| 6 | g.33443468T= | CA3135552218 | SYNGAP1,SYNGAP1-AS1 | c.2658T= (p.Pro886=) c.2916T= (p.Pro972=) c.2874T= (p.Pro958=) c.2739T= (p.Pro913=) c.2871T= (p.Pro957=) n.329+3138A= | dbSNP |