| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.68293123C>G | CA359879061 | PIK3R1 | c.142C>G (p.Arg48Gly) c.232C>G (p.Arg78Gly) c.1042C>G (p.Arg348Gly) c.*12C>G (n.*12C>G) c.967C>G (p.Arg323Gly) c.517C>G (p.Arg173Gly) n.683C>G c.*8C>G (n.*8C>G) c.79C>G (p.Arg27Gly) c.49C>G (p.Arg17Gly) c.-48C>G (n.-48C>G) c.25C>G (p.Arg9Gly) c.949C>G (p.Arg317Gly) n.289C>G n.1585C>G c.61C>G (p.Arg21Gly) n.441C>G c.715C>G (p.Arg239Gly) c.769C>G (p.Arg257Gly) | ClinVar dbSNP |
| 5 | g.68293123C>A | CA444672345 | PIK3R1 | c.142C>A (p.Arg48=) c.232C>A (p.Arg78=) c.1042C>A (p.Arg348=) c.*12C>A (n.*12C>A) c.967C>A (p.Arg323=) c.517C>A (p.Arg173=) n.683C>A c.*8C>A (n.*8C>A) c.79C>A (p.Arg27=) c.49C>A (p.Arg17=) c.-48C>A (n.-48C>A) c.25C>A (p.Arg9=) c.949C>A (p.Arg317=) n.289C>A n.1585C>A c.61C>A (p.Arg21=) n.441C>A c.715C>A (p.Arg239=) c.769C>A (p.Arg257=) | dbSNP |
| 5 | g.68293123C>T | CA16604912 | PIK3R1 | c.142C>T (p.Arg48Ter) c.232C>T (p.Arg78Ter) c.1042C>T (p.Arg348Ter) c.*12C>T (n.*12C>T) c.967C>T (p.Arg323Ter) c.517C>T (p.Arg173Ter) n.683C>T c.*8C>T (n.*8C>T) c.79C>T (p.Arg27Ter) c.49C>T (p.Arg17Ter) c.-48C>T (n.-48C>T) c.25C>T (p.Arg9Ter) c.949C>T (p.Arg317Ter) n.289C>T n.1585C>T c.61C>T (p.Arg21Ter) n.441C>T c.715C>T (p.Arg239Ter) c.769C>T (p.Arg257Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC |