| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.162097850C>A | CA16604909 | GABRG2 | c.502C>A c.540C>A (p.Tyr180Ter) n.431C>A c.623C>A c.255C>A (p.Tyr85Ter) n.602C>A c.417C>A c.23-6039C>A (n.23-6039C>A) c.468C>A (p.Tyr156Ter) c.107+29744C>A (n.107+29744C>A) n.500C>A c.474C>A (p.Tyr158Ter) c.70-6039C>A c.453C>A (p.Tyr151Ter) c.*142C>A (n.*142C>A) c.661C>A (n.661C>A) c.531C>A (p.Tyr177Ter) c.120C>A (p.Tyr40Ter) | ClinVar dbSNP |
| 5 | g.162097850C= | CA1596362472 | GABRG2 | c.502C= c.540C= (p.Tyr180=) n.431C= c.623C= c.255C= (p.Tyr85=) n.602C= c.417C= c.23-6039C= (n.23-6039C=) c.468C= (p.Tyr156=) c.107+29744C= (n.107+29744C=) n.500C= c.474C= (p.Tyr158=) c.70-6039C= c.453C= (p.Tyr151=) c.*142C= (n.*142C=) c.661C= (n.661C=) c.531C= (p.Tyr177=) c.120C= (p.Tyr40=) | dbSNP |
| 5 | g.162097850C>T | CA447609664 | GABRG2 | c.502C>T c.540C>T (p.Tyr180=) n.431C>T c.623C>T c.255C>T (p.Tyr85=) n.602C>T c.417C>T c.23-6039C>T (n.23-6039C>T) c.468C>T (p.Tyr156=) c.107+29744C>T (n.107+29744C>T) n.500C>T c.474C>T (p.Tyr158=) c.70-6039C>T c.453C>T (p.Tyr151=) c.*142C>T (n.*142C>T) c.661C>T (n.661C>T) c.531C>T (p.Tyr177=) c.120C>T (p.Tyr40=) | dbSNP gnomAD v4 |