| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.148809340G>A | CA259759 | EZH2 | n.3980C>T c.*1142C>T (n.*1142C>T) c.*976C>T (n.*976C>T) n.3799C>T n.3913C>T n.2396C>T n.2458C>T c.2080C>T (p.His694Tyr) c.1948C>T (p.His650Tyr) c.2065C>T (p.His689Tyr) c.1912C>T (p.His638Tyr) c.2038C>T (p.His680Tyr) c.*2070C>T (n.*2070C>T) c.2089C>T (p.His697Tyr) c.2062C>T (p.His688Tyr) c.1936C>T (p.His646Tyr) c.2104C>T (p.His702Tyr) c.2077C>T (p.His693Tyr) c.2056C>T (p.His686Tyr) c.2053C>T (p.His685Tyr) c.2014C>T (p.His672Tyr) c.1987C>T (p.His663Tyr) c.1981C>T (p.His661Tyr) c.1978C>T (p.His660Tyr) c.1972C>T (p.His658Tyr) c.1963C>T (p.His655Tyr) c.1960C>T (p.His654Tyr) c.1846C>T (p.His616Tyr) c.1753C>T (p.His585Tyr) n.515+4255G>A n.722+4255G>A c.2041C>T (p.His681Tyr) c.1738C>T (p.His580Tyr) c.1966C>T (p.His656Tyr) n.4454C>T n.5110C>T n.5570C>T | ClinVar dbSNP COSMIC |
| 7 | g.148809340G= | CA1751421440 | EZH2 | n.3980C= c.*1142C= (n.*1142C=) c.*976C= (n.*976C=) n.3799C= n.3913C= n.2396C= n.2458C= c.2080C= (p.His694=) c.1948C= (p.His650=) c.2065C= (p.His689=) c.1912C= (p.His638=) c.2038C= (p.His680=) c.*2070C= (n.*2070C=) c.2089C= (p.His697=) c.2062C= (p.His688=) c.1936C= (p.His646=) c.2104C= (p.His702=) c.2077C= (p.His693=) c.2056C= (p.His686=) c.2053C= (p.His685=) c.2014C= (p.His672=) c.1987C= (p.His663=) c.1981C= (p.His661=) c.1978C= (p.His660=) c.1972C= (p.His658=) c.1963C= (p.His655=) c.1960C= (p.His654=) c.1846C= (p.His616=) c.1753C= (p.His585=) n.515+4255G= n.722+4255G= c.2041C= (p.His681=) c.1738C= (p.His580=) c.1966C= (p.His656=) n.4454C= n.5110C= n.5570C= | dbSNP |