| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.162097840del | CA10582412 | GABRG2 | c.492del c.530del (p.Arg177GlnfsTer6) n.421del c.613del c.245del (p.Arg82GlnfsTer6) n.592del c.407del c.23-6049del (n.23-6049del) c.458del (p.Arg153GlnfsTer6) c.107+29734del (n.107+29734del) n.490del c.464del (p.Arg155GlnfsTer6) c.70-6049del c.443del (p.Arg148GlnfsTer6) c.*132del (n.*132del) c.651del (n.651del) c.521del (p.Arg174GlnfsTer6) c.110del (p.Arg37GlnfsTer6) | ClinVar dbSNP |
| 5 | g.162097840G= | CA1596362470 | GABRG2 | c.492G= c.530G= (p.Arg177=) n.421G= c.613G= c.245G= (p.Arg82=) n.592G= c.407G= c.23-6049G= (n.23-6049G=) c.458G= (p.Arg153=) c.107+29734G= (n.107+29734G=) n.490G= c.464G= (p.Arg155=) c.70-6049G= c.443G= (p.Arg148=) c.*132G= (n.*132G=) c.651G= (n.651G=) c.521G= (p.Arg174=) c.110G= (p.Arg37=) | dbSNP dbSNP |