Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.39723966T>C | CA499670704 | ERBB2 | c.2263T>C (p.Leu755=) c.2173T>C (p.Leu725=) c.1435T>C (p.Leu479=) c.2218T>C (p.Leu740=) c.*2053T>C (n.*2053T>C) n.872T>C c.369T>C n.3397T>C n.2587T>C c.2401T>C (p.Leu801=) c.2356T>C (p.Leu786=) c.2311T>C (p.Leu771=) c.2380T>C (p.Leu794=) c.2365T>C (p.Leu789=) c.2344T>C (p.Leu782=) c.2338T>C (p.Leu780=) c.2293T>C (p.Leu765=) c.2284T>C (p.Leu762=) c.2260T>C (p.Leu754=) c.2254T>C (p.Leu752=) c.2227T>C (p.Leu743=) c.2221T>C (p.Leu741=) c.2215T>C (p.Leu739=) c.2208+306T>C (n.2208+306T>C) c.2083T>C (p.Leu695=) c.2005T>C (p.Leu669=) c.1225T>C (p.Leu409=) n.2501T>C | dbSNP COSMIC |
17 | g.39723966T>A | CA16602842 | ERBB2 | c.2263T>A (p.Leu755Met) c.2173T>A (p.Leu725Met) c.1435T>A (p.Leu479Met) c.2218T>A (p.Leu740Met) c.*2053T>A (n.*2053T>A) n.872T>A c.369T>A n.3397T>A n.2587T>A c.2401T>A (p.Leu801Met) c.2356T>A (p.Leu786Met) c.2311T>A (p.Leu771Met) c.2380T>A (p.Leu794Met) c.2365T>A (p.Leu789Met) c.2344T>A (p.Leu782Met) c.2338T>A (p.Leu780Met) c.2293T>A (p.Leu765Met) c.2284T>A (p.Leu762Met) c.2260T>A (p.Leu754Met) c.2254T>A (p.Leu752Met) c.2227T>A (p.Leu743Met) c.2221T>A (p.Leu741Met) c.2215T>A (p.Leu739Met) c.2208+306T>A (n.2208+306T>A) c.2083T>A (p.Leu695Met) c.2005T>A (p.Leu669Met) c.1225T>A (p.Leu409Met) n.2501T>A | ClinVar dbSNP COSMIC COSMIC |