| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.68294570T>A | CA359881442 | PIK3R1 | c.560T>A (p.Phe187Tyr) c.650T>A (p.Phe217Tyr) c.1460T>A (p.Phe487Tyr) c.*430T>A (n.*430T>A) c.1385T>A (p.Phe462Tyr) c.935T>A (p.Phe312Tyr) n.1101T>A c.*426T>A (n.*426T>A) c.497T>A (p.Phe166Tyr) c.467T>A (p.Phe156Tyr) c.371T>A (p.Phe124Tyr) c.443T>A (p.Phe148Tyr) c.152T>A (p.Phe51Tyr) c.56T>A (p.Phe19Tyr) n.2003T>A c.479T>A (p.Phe160Tyr) n.859T>A c.1133T>A (p.Phe378Tyr) c.1187T>A (p.Phe396Tyr) | dbSNP |
| 5 | g.68294570T>C | CA276157 | PIK3R1 | c.560T>C (p.Phe187Ser) c.650T>C (p.Phe217Ser) c.1460T>C (p.Phe487Ser) c.*430T>C (n.*430T>C) c.1385T>C (p.Phe462Ser) c.935T>C (p.Phe312Ser) n.1101T>C c.*426T>C (n.*426T>C) c.497T>C (p.Phe166Ser) c.467T>C (p.Phe156Ser) c.371T>C (p.Phe124Ser) c.443T>C (p.Phe148Ser) c.152T>C (p.Phe51Ser) c.56T>C (p.Phe19Ser) n.2003T>C c.479T>C (p.Phe160Ser) n.859T>C c.1133T>C (p.Phe378Ser) c.1187T>C (p.Phe396Ser) | ClinVar dbSNP |