Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.55174818G>C | CA367584239 | EGFR | c.2122G>C (p.Asp708His) c.630G>C c.2281G>C (p.Asp761His) c.*28+1890G>C (n.*28+1890G>C) c.2146G>C (p.Asp716His) c.1480G>C (p.Asp494His) | ClinVar dbSNP gnomAD v4 |
7 | g.55174818G>A | CA16602543 | EGFR | c.2122G>A (p.Asp708Asn) c.630G>A c.2281G>A (p.Asp761Asn) c.*28+1890G>A (n.*28+1890G>A) c.2146G>A (p.Asp716Asn) c.1480G>A (p.Asp494Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
7 | g.55174818G>T | CA135827 | EGFR | c.2122G>T (p.Asp708Tyr) c.630G>T c.2281G>T (p.Asp761Tyr) c.*28+1890G>T (n.*28+1890G>T) c.2146G>T (p.Asp716Tyr) c.1480G>T (p.Asp494Tyr) | ClinVar dbSNP gnomAD v4 COSMIC |