Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.33442990del | CA118190 | SYNGAP1,SYNGAP1-AS1 | c.2180del (p.Leu727ArgfsTer23) c.2438del (p.Leu813ArgfsTer23) c.2396del (p.Leu799ArgfsTer23) c.2261del (p.Leu754ArgfsTer23) c.2393del (p.Leu798ArgfsTer23) n.329+3616del | ClinVar dbSNP |
6 | g.33442990T= | CA3134838016 | SYNGAP1,SYNGAP1-AS1 | c.2180T= (p.Leu727=) c.2438T= (p.Leu813=) c.2396T= (p.Leu799=) c.2261T= (p.Leu754=) c.2393T= (p.Leu798=) n.329+3616A= | dbSNP |