| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33438425del | CA16042668 | MIR5004,SYNGAP1,SYNGAP1-AS1 | c.1135del (p.Leu379PhefsTer9) c.1393del (p.Leu465PhefsTer9) c.1216del (p.Leu406PhefsTer9) c.1348del (p.Leu450PhefsTer9) n.1588del n.95del n.330-943del | ClinVar dbSNP |
| 6 | g.33438425dup | CA2499218220 | MIR5004,SYNGAP1,SYNGAP1-AS1 | c.1135dup (p.Leu379ProfsTer8) c.1393dup (p.Leu465ProfsTer8) c.1216dup (p.Leu406ProfsTer8) c.1348dup (p.Leu450ProfsTer8) n.1588dup n.95dup n.330-943dup | ClinVar dbSNP |