| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.68295269A>G | CA16602710 | PIK3R1 | c.790A>G (p.Asn264Asp) c.880A>G (p.Asn294Asp) c.1690A>G (p.Asn564Asp) c.*660A>G (n.*660A>G) c.1615A>G (p.Asn539Asp) c.1165A>G (p.Asn389Asp) n.1331A>G c.*656A>G (n.*656A>G) c.727A>G (p.Asn243Asp) c.697A>G (p.Asn233Asp) c.601A>G (p.Asn201Asp) c.673A>G (p.Asn225Asp) c.382A>G (p.Asn128Asp) c.286A>G (p.Asn96Asp) n.2233A>G n.1089A>G c.1363A>G (p.Asn455Asp) c.1417A>G (p.Asn473Asp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 5 | g.68295269A>T | CA359883037 | PIK3R1 | c.790A>T (p.Asn264Tyr) c.880A>T (p.Asn294Tyr) c.1690A>T (p.Asn564Tyr) c.*660A>T (n.*660A>T) c.1615A>T (p.Asn539Tyr) c.1165A>T (p.Asn389Tyr) n.1331A>T c.*656A>T (n.*656A>T) c.727A>T (p.Asn243Tyr) c.697A>T (p.Asn233Tyr) c.601A>T (p.Asn201Tyr) c.673A>T (p.Asn225Tyr) c.382A>T (p.Asn128Tyr) c.286A>T (p.Asn96Tyr) n.2233A>T n.1089A>T c.1363A>T (p.Asn455Tyr) c.1417A>T (p.Asn473Tyr) | dbSNP |