| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.68294575G>A | CA344798 | PIK3R1 | c.565G>A (p.Glu189Lys) c.655G>A (p.Glu219Lys) c.1465G>A (p.Glu489Lys) c.*435G>A (n.*435G>A) c.1390G>A (p.Glu464Lys) c.940G>A (p.Glu314Lys) n.1106G>A c.*431G>A (n.*431G>A) c.502G>A (p.Glu168Lys) c.472G>A (p.Glu158Lys) c.376G>A (p.Glu126Lys) c.448G>A (p.Glu150Lys) c.157G>A (p.Glu53Lys) c.61G>A (p.Glu21Lys) n.2008G>A c.484G>A (p.Glu162Lys) n.864G>A c.1138G>A (p.Glu380Lys) c.1192G>A (p.Glu398Lys) | ClinVar dbSNP |
| 5 | g.68294575G= | CA1553405806 | PIK3R1 | c.565G= (p.Glu189=) c.655G= (p.Glu219=) c.1465G= (p.Glu489=) c.*435G= (n.*435G=) c.1390G= (p.Glu464=) c.940G= (p.Glu314=) n.1106G= c.*431G= (n.*431G=) c.502G= (p.Glu168=) c.472G= (p.Glu158=) c.376G= (p.Glu126=) c.448G= (p.Glu150=) c.157G= (p.Glu53=) c.61G= (p.Glu21=) n.2008G= c.484G= (p.Glu162=) n.864G= c.1138G= (p.Glu380=) c.1192G= (p.Glu398=) | dbSNP |