| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.68296327T>C | CA444490388 | PIK3R1 | c.1071T>C (p.Tyr357=) c.1161T>C (p.Tyr387=) c.1971T>C (p.Tyr657=) c.*941T>C (n.*941T>C) c.1896T>C (p.Tyr632=) c.1446T>C (p.Tyr482=) c.1995T>C (p.Tyr665=) c.1185T>C (p.Tyr395=) n.1636T>C c.*937T>C (n.*937T>C) c.1008T>C (p.Tyr336=) c.978T>C (p.Tyr326=) c.882T>C (p.Tyr294=) c.954T>C (p.Tyr318=) c.663T>C (p.Tyr221=) c.567T>C (p.Tyr189=) n.2514T>C c.1644T>C (p.Tyr548=) c.1698T>C (p.Tyr566=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.68296327T>G | CA347729 | PIK3R1 | c.1071T>G (p.Tyr357Ter) c.1161T>G (p.Tyr387Ter) c.1971T>G (p.Tyr657Ter) c.*941T>G (n.*941T>G) c.1896T>G (p.Tyr632Ter) c.1446T>G (p.Tyr482Ter) c.1995T>G (p.Tyr665Ter) c.1185T>G (p.Tyr395Ter) n.1636T>G c.*937T>G (n.*937T>G) c.1008T>G (p.Tyr336Ter) c.978T>G (p.Tyr326Ter) c.882T>G (p.Tyr294Ter) c.954T>G (p.Tyr318Ter) c.663T>G (p.Tyr221Ter) c.567T>G (p.Tyr189Ter) n.2514T>G c.1644T>G (p.Tyr548Ter) c.1698T>G (p.Tyr566Ter) | ClinVar dbSNP |
| 5 | g.68296327T= | CA1553406633 | PIK3R1 | c.1071T= (p.Tyr357=) c.1161T= (p.Tyr387=) c.1971T= (p.Tyr657=) c.*941T= (n.*941T=) c.1896T= (p.Tyr632=) c.1446T= (p.Tyr482=) c.1995T= (p.Tyr665=) c.1185T= (p.Tyr395=) n.1636T= c.*937T= (n.*937T=) c.1008T= (p.Tyr336=) c.978T= (p.Tyr326=) c.882T= (p.Tyr294=) c.954T= (p.Tyr318=) c.663T= (p.Tyr221=) c.567T= (p.Tyr189=) n.2514T= c.1644T= (p.Tyr548=) c.1698T= (p.Tyr566=) | dbSNP |