| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7674872T>A | CA397839889 | TP53 | c.659A>T (p.Tyr220Phe) c.263A>T (p.Tyr88Phe) c.380A>T (p.Tyr127Phe) c.638A>T (p.Tyr213Phe) n.915A>T n.67+181A>T c.542A>T (p.Tyr181Phe) c.182A>T (p.Tyr61Phe) c.626A>T (p.Tyr209Phe) | dbSNP |
| 17 | g.7674872T>C | CA000315 | TP53 | c.659A>G (p.Tyr220Cys) c.263A>G (p.Tyr88Cys) c.380A>G (p.Tyr127Cys) c.638A>G (p.Tyr213Cys) n.915A>G n.67+181A>G c.542A>G (p.Tyr181Cys) c.182A>G (p.Tyr61Cys) c.626A>G (p.Tyr209Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674872T>G | CA000314 | TP53 | c.659A>C (p.Tyr220Ser) c.263A>C (p.Tyr88Ser) c.380A>C (p.Tyr127Ser) c.638A>C (p.Tyr213Ser) n.915A>C n.67+181A>C c.542A>C (p.Tyr181Ser) c.182A>C (p.Tyr61Ser) c.626A>C (p.Tyr209Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7674872T= | CA2245954057 | TP53 | c.659A= (p.Tyr220=) c.263A= (p.Tyr88=) c.380A= (p.Tyr127=) c.638A= (p.Tyr213=) n.915A= n.67+181A= c.542A= (p.Tyr181=) c.182A= (p.Tyr61=) c.626A= (p.Tyr209=) | dbSNP |