Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.148809370G>A | CA271512 | EZH2 | n.3950C>T c.*1112C>T (n.*1112C>T) c.*946C>T (n.*946C>T) n.3769C>T n.3883C>T n.2366C>T n.2428C>T c.2050C>T (p.Arg684Cys) c.1918C>T (p.Arg640Cys) c.2035C>T (p.Arg679Cys) c.1882C>T (p.Arg628Cys) c.2008C>T (p.Arg670Cys) c.*2040C>T (n.*2040C>T) c.2059C>T (p.Arg687Cys) c.2032C>T (p.Arg678Cys) c.1906C>T (p.Arg636Cys) c.2074C>T (p.Arg692Cys) c.2047C>T (p.Arg683Cys) c.2026C>T (p.Arg676Cys) c.2023C>T (p.Arg675Cys) c.1984C>T (p.Arg662Cys) c.1957C>T (p.Arg653Cys) c.1951C>T (p.Arg651Cys) c.1948C>T (p.Arg650Cys) c.1942C>T (p.Arg648Cys) c.1933C>T (p.Arg645Cys) c.1930C>T (p.Arg644Cys) c.1816C>T (p.Arg606Cys) c.1723C>T (p.Arg575Cys) n.515+4285G>A n.722+4285G>A c.2011C>T (p.Arg671Cys) c.1708C>T (p.Arg570Cys) c.1936C>T (p.Arg646Cys) n.4424C>T n.5080C>T n.5540C>T | ClinVar dbSNP COSMIC |
7 | g.148809370G>T | CA369712339 | EZH2 | n.3950C>A c.*1112C>A (n.*1112C>A) c.*946C>A (n.*946C>A) n.3769C>A n.3883C>A n.2366C>A n.2428C>A c.2050C>A (p.Arg684Ser) c.1918C>A (p.Arg640Ser) c.2035C>A (p.Arg679Ser) c.1882C>A (p.Arg628Ser) c.2008C>A (p.Arg670Ser) c.*2040C>A (n.*2040C>A) c.2059C>A (p.Arg687Ser) c.2032C>A (p.Arg678Ser) c.1906C>A (p.Arg636Ser) c.2074C>A (p.Arg692Ser) c.2047C>A (p.Arg683Ser) c.2026C>A (p.Arg676Ser) c.2023C>A (p.Arg675Ser) c.1984C>A (p.Arg662Ser) c.1957C>A (p.Arg653Ser) c.1951C>A (p.Arg651Ser) c.1948C>A (p.Arg650Ser) c.1942C>A (p.Arg648Ser) c.1933C>A (p.Arg645Ser) c.1930C>A (p.Arg644Ser) c.1816C>A (p.Arg606Ser) c.1723C>A (p.Arg575Ser) n.515+4285G>T n.722+4285G>T c.2011C>A (p.Arg671Ser) c.1708C>A (p.Arg570Ser) c.1936C>A (p.Arg646Ser) n.4424C>A n.5080C>A n.5540C>A | dbSNP COSMIC COSMIC |