Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.33442990delCA118190SYNGAP1,SYNGAP1-AS1c.2180del (p.Leu727ArgfsTer23)
c.2438del (p.Leu813ArgfsTer23)
c.2396del (p.Leu799ArgfsTer23)
c.2261del (p.Leu754ArgfsTer23)
c.2393del (p.Leu798ArgfsTer23)
n.329+3616del
ClinVar dbSNP
6g.33442990T=CA3134838016SYNGAP1,SYNGAP1-AS1c.2180T= (p.Leu727=)
c.2438T= (p.Leu813=)
c.2396T= (p.Leu799=)
c.2261T= (p.Leu754=)
c.2393T= (p.Leu798=)
n.329+3616A=
dbSNP

Number of alleles fetched