| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.33437801del | CA278996 | SYNGAP1,SYNGAP1-AS1 | c.638del (p.Arg213ProfsTer?) c.896del (p.Arg299ProfsTer?) c.719del (p.Arg240ProfsTer?) c.851del (p.Arg284ProfsTer?) n.1091del n.330-320del | ClinVar dbSNP |
| 6 | g.33437801G= | CA1620012256 | SYNGAP1,SYNGAP1-AS1 | c.638G= (p.Arg213=) c.896G= (p.Arg299=) c.719G= (p.Arg240=) c.851G= (p.Arg284=) n.1091G= n.330-320C= | dbSNP dbSNP |