| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.148807669C>T | CA345008 | EZH2 | n.4133G>A c.*1295G>A (n.*1295G>A) c.*1129G>A (n.*1129G>A) n.3952G>A n.4220G>A n.2549G>A n.2611G>A c.2233G>A (p.Glu745Lys) c.2101G>A (p.Glu701Lys) c.2218G>A (p.Glu740Lys) c.2065G>A (p.Glu689Lys) c.2191G>A (p.Glu731Lys) c.*2223G>A (n.*2223G>A) c.2242G>A (p.Glu748Lys) c.2215G>A (p.Glu739Lys) c.2089G>A (p.Glu697Lys) c.2257G>A (p.Glu753Lys) c.2230G>A (p.Glu744Lys) c.2209G>A (p.Glu737Lys) c.2206G>A (p.Glu736Lys) c.2167G>A (p.Glu723Lys) c.2140G>A (p.Glu714Lys) c.2134G>A (p.Glu712Lys) c.2131G>A (p.Glu711Lys) c.2125G>A (p.Glu709Lys) c.2116G>A (p.Glu706Lys) c.2113G>A (p.Glu705Lys) c.1999G>A (p.Glu667Lys) c.1906G>A (p.Glu636Lys) n.515+2584C>T n.722+2584C>T c.2194G>A (p.Glu732Lys) c.1891G>A (p.Glu631Lys) c.2119G>A (p.Glu707Lys) n.4607G>A n.5263G>A n.5723G>A | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 7 | g.148807669C= | CA1751419297 | EZH2 | n.4133G= c.*1295G= (n.*1295G=) c.*1129G= (n.*1129G=) n.3952G= n.4220G= n.2549G= n.2611G= c.2233G= (p.Glu745=) c.2101G= (p.Glu701=) c.2218G= (p.Glu740=) c.2065G= (p.Glu689=) c.2191G= (p.Glu731=) c.*2223G= (n.*2223G=) c.2242G= (p.Glu748=) c.2215G= (p.Glu739=) c.2089G= (p.Glu697=) c.2257G= (p.Glu753=) c.2230G= (p.Glu744=) c.2209G= (p.Glu737=) c.2206G= (p.Glu736=) c.2167G= (p.Glu723=) c.2140G= (p.Glu714=) c.2134G= (p.Glu712=) c.2131G= (p.Glu711=) c.2125G= (p.Glu709=) c.2116G= (p.Glu706=) c.2113G= (p.Glu705=) c.1999G= (p.Glu667=) c.1906G= (p.Glu636=) n.515+2584C= n.722+2584C= c.2194G= (p.Glu732=) c.1891G= (p.Glu631=) c.2119G= (p.Glu707=) n.4607G= n.5263G= n.5723G= | dbSNP |
| 7 | g.148807669C>A | CA369711782 | EZH2 | n.4133G>T c.*1295G>T (n.*1295G>T) c.*1129G>T (n.*1129G>T) n.3952G>T n.4220G>T n.2549G>T n.2611G>T c.2233G>T (p.Glu745Ter) c.2101G>T (p.Glu701Ter) c.2218G>T (p.Glu740Ter) c.2065G>T (p.Glu689Ter) c.2191G>T (p.Glu731Ter) c.*2223G>T (n.*2223G>T) c.2242G>T (p.Glu748Ter) c.2215G>T (p.Glu739Ter) c.2089G>T (p.Glu697Ter) c.2257G>T (p.Glu753Ter) c.2230G>T (p.Glu744Ter) c.2209G>T (p.Glu737Ter) c.2206G>T (p.Glu736Ter) c.2167G>T (p.Glu723Ter) c.2140G>T (p.Glu714Ter) c.2134G>T (p.Glu712Ter) c.2131G>T (p.Glu711Ter) c.2125G>T (p.Glu709Ter) c.2116G>T (p.Glu706Ter) c.2113G>T (p.Glu705Ter) c.1999G>T (p.Glu667Ter) c.1906G>T (p.Glu636Ter) n.515+2584C>A n.722+2584C>A c.2194G>T (p.Glu732Ter) c.1891G>T (p.Glu631Ter) c.2119G>T (p.Glu707Ter) n.4607G>T n.5263G>T n.5723G>T | ClinVar dbSNP gnomAD v4 |