| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.162149210del | CA16611898 | GABRG2 | c.1026del c.1145del (p.Cys382PhefsTer?) c.1108del n.279del c.740del (p.Cys247PhefsTer?) c.1025del (p.Cys342PhefsTer?) c.902del c.416del (p.Cys139PhefsTer?) c.953del (p.Cys318PhefsTer?) c.*225del (n.*225del) c.959del (p.Cys320PhefsTer?) n.323del n.3556del c.463del c.938del (p.Cys313PhefsTer?) c.*627del (n.*627del) c.1146del (n.1146del) c.1016del (p.Cys339PhefsTer?) c.923-2520del (n.923-2520del) c.1022del (p.Cys341PhefsTer?) c.1064del (p.Cys355PhefsTer?) c.605del (p.Cys202PhefsTer?) | ClinVar dbSNP |
| 5 | g.162149210G= | CA3124061251 | GABRG2 | c.1026G= c.1145G= (p.Cys382=) c.1108G= n.279G= c.740G= (p.Cys247=) c.1025G= (p.Cys342=) c.902G= c.416G= (p.Cys139=) c.953G= (p.Cys318=) c.*225G= (n.*225G=) c.959G= (p.Cys320=) n.323G= n.3556G= c.463G= c.938G= (p.Cys313=) c.*627G= (n.*627G=) c.1146G= (n.1146G=) c.1016G= (p.Cys339=) c.923-2520G= (n.923-2520G=) c.1022G= (p.Cys341=) c.1064G= (p.Cys355=) c.605G= (p.Cys202=) | dbSNP dbSNP |