| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.68293187C>G | CA359879290 | PIK3R1 | c.206C>G (p.Thr69Ser) c.296C>G (p.Thr99Ser) c.1106C>G (p.Thr369Ser) c.*76C>G (n.*76C>G) c.1031C>G (p.Thr344Ser) c.581C>G (p.Thr194Ser) n.747C>G c.*72C>G (n.*72C>G) c.143C>G (p.Thr48Ser) c.113C>G (p.Thr38Ser) c.17C>G (p.Thr6Ser) c.89C>G (p.Thr30Ser) c.1013C>G (p.Thr338Ser) n.353C>G n.1649C>G c.125C>G (p.Thr42Ser) n.505C>G c.779C>G (p.Thr260Ser) c.833C>G (p.Thr278Ser) | dbSNP |
| 5 | g.68293187C>T | CA272459 | PIK3R1 | c.206C>T (p.Thr69Ile) c.296C>T (p.Thr99Ile) c.1106C>T (p.Thr369Ile) c.*76C>T (n.*76C>T) c.1031C>T (p.Thr344Ile) c.581C>T (p.Thr194Ile) n.747C>T c.*72C>T (n.*72C>T) c.143C>T (p.Thr48Ile) c.113C>T (p.Thr38Ile) c.17C>T (p.Thr6Ile) c.89C>T (p.Thr30Ile) c.1013C>T (p.Thr338Ile) n.353C>T n.1649C>T c.125C>T (p.Thr42Ile) n.505C>T c.779C>T (p.Thr260Ile) c.833C>T (p.Thr278Ile) | ClinVar dbSNP |
| 5 | g.68293187C= | CA1553405220 | PIK3R1 | c.206C= (p.Thr69=) c.296C= (p.Thr99=) c.1106C= (p.Thr369=) c.*76C= (n.*76C=) c.1031C= (p.Thr344=) c.581C= (p.Thr194=) n.747C= c.*72C= (n.*72C=) c.143C= (p.Thr48=) c.113C= (p.Thr38=) c.17C= (p.Thr6=) c.89C= (p.Thr30=) c.1013C= (p.Thr338=) n.353C= n.1649C= c.125C= (p.Thr42=) n.505C= c.779C= (p.Thr260=) c.833C= (p.Thr278=) | dbSNP |