| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.68295257G>C | CA359883007 | PIK3R1 | c.778G>C (p.Asp260His) c.868G>C (p.Asp290His) c.1678G>C (p.Asp560His) c.*648G>C (n.*648G>C) c.1603G>C (p.Asp535His) c.1153G>C (p.Asp385His) n.1319G>C c.*644G>C (n.*644G>C) c.715G>C (p.Asp239His) c.685G>C (p.Asp229His) c.589G>C (p.Asp197His) c.661G>C (p.Asp221His) c.370G>C (p.Asp124His) c.274G>C (p.Asp92His) n.2221G>C n.1077G>C c.1351G>C (p.Asp451His) c.1405G>C (p.Asp469His) | dbSNP COSMIC COSMIC COSMIC |
| 5 | g.68295257G>A | CA359883008 | PIK3R1 | c.778G>A (p.Asp260Asn) c.868G>A (p.Asp290Asn) c.1678G>A (p.Asp560Asn) c.*648G>A (n.*648G>A) c.1603G>A (p.Asp535Asn) c.1153G>A (p.Asp385Asn) n.1319G>A c.*644G>A (n.*644G>A) c.715G>A (p.Asp239Asn) c.685G>A (p.Asp229Asn) c.589G>A (p.Asp197Asn) c.661G>A (p.Asp221Asn) c.370G>A (p.Asp124Asn) c.274G>A (p.Asp92Asn) n.2221G>A n.1077G>A c.1351G>A (p.Asp451Asn) c.1405G>A (p.Asp469Asn) | dbSNP COSMIC |
| 5 | g.68295257G>T | CA16602708 | PIK3R1 | c.778G>T (p.Asp260Tyr) c.868G>T (p.Asp290Tyr) c.1678G>T (p.Asp560Tyr) c.*648G>T (n.*648G>T) c.1603G>T (p.Asp535Tyr) c.1153G>T (p.Asp385Tyr) n.1319G>T c.*644G>T (n.*644G>T) c.715G>T (p.Asp239Tyr) c.685G>T (p.Asp229Tyr) c.589G>T (p.Asp197Tyr) c.661G>T (p.Asp221Tyr) c.370G>T (p.Asp124Tyr) c.274G>T (p.Asp92Tyr) n.2221G>T n.1077G>T c.1351G>T (p.Asp451Tyr) c.1405G>T (p.Asp469Tyr) | ClinVar dbSNP COSMIC |