| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.148809375G>C | CA16602672 | EZH2 | n.3945C>G c.*1107C>G (n.*1107C>G) c.*941C>G (n.*941C>G) n.3764C>G n.3878C>G n.2361C>G n.2423C>G c.2045C>G (p.Ala682Gly) c.1913C>G (p.Ala638Gly) c.2030C>G (p.Ala677Gly) c.1877C>G (p.Ala626Gly) c.2003C>G (p.Ala668Gly) c.*2035C>G (n.*2035C>G) c.2054C>G (p.Ala685Gly) c.2027C>G (p.Ala676Gly) c.1901C>G (p.Ala634Gly) c.2069C>G (p.Ala690Gly) c.2042C>G (p.Ala681Gly) c.2021C>G (p.Ala674Gly) c.2018C>G (p.Ala673Gly) c.1979C>G (p.Ala660Gly) c.1952C>G (p.Ala651Gly) c.1946C>G (p.Ala649Gly) c.1943C>G (p.Ala648Gly) c.1937C>G (p.Ala646Gly) c.1928C>G (p.Ala643Gly) c.1925C>G (p.Ala642Gly) c.1811C>G (p.Ala604Gly) c.1718C>G (p.Ala573Gly) n.515+4290G>C n.722+4290G>C c.2006C>G (p.Ala669Gly) c.1703C>G (p.Ala568Gly) c.1931C>G (p.Ala644Gly) n.4419C>G n.5075C>G n.5535C>G | ClinVar dbSNP |
| 7 | g.148809375G>A | CA369712350 | EZH2 | n.3945C>T c.*1107C>T (n.*1107C>T) c.*941C>T (n.*941C>T) n.3764C>T n.3878C>T n.2361C>T n.2423C>T c.2045C>T (p.Ala682Val) c.1913C>T (p.Ala638Val) c.2030C>T (p.Ala677Val) c.1877C>T (p.Ala626Val) c.2003C>T (p.Ala668Val) c.*2035C>T (n.*2035C>T) c.2054C>T (p.Ala685Val) c.2027C>T (p.Ala676Val) c.1901C>T (p.Ala634Val) c.2069C>T (p.Ala690Val) c.2042C>T (p.Ala681Val) c.2021C>T (p.Ala674Val) c.2018C>T (p.Ala673Val) c.1979C>T (p.Ala660Val) c.1952C>T (p.Ala651Val) c.1946C>T (p.Ala649Val) c.1943C>T (p.Ala648Val) c.1937C>T (p.Ala646Val) c.1928C>T (p.Ala643Val) c.1925C>T (p.Ala642Val) c.1811C>T (p.Ala604Val) c.1718C>T (p.Ala573Val) n.515+4290G>A n.722+4290G>A c.2006C>T (p.Ala669Val) c.1703C>T (p.Ala568Val) c.1931C>T (p.Ala644Val) n.4419C>T n.5075C>T n.5535C>T | dbSNP gnomAD v4 COSMIC |
| 7 | g.148809375G= | CA1751421484 | EZH2 | n.3945C= c.*1107C= (n.*1107C=) c.*941C= (n.*941C=) n.3764C= n.3878C= n.2361C= n.2423C= c.2045C= (p.Ala682=) c.1913C= (p.Ala638=) c.2030C= (p.Ala677=) c.1877C= (p.Ala626=) c.2003C= (p.Ala668=) c.*2035C= (n.*2035C=) c.2054C= (p.Ala685=) c.2027C= (p.Ala676=) c.1901C= (p.Ala634=) c.2069C= (p.Ala690=) c.2042C= (p.Ala681=) c.2021C= (p.Ala674=) c.2018C= (p.Ala673=) c.1979C= (p.Ala660=) c.1952C= (p.Ala651=) c.1946C= (p.Ala649=) c.1943C= (p.Ala648=) c.1937C= (p.Ala646=) c.1928C= (p.Ala643=) c.1925C= (p.Ala642=) c.1811C= (p.Ala604=) c.1718C= (p.Ala573=) n.515+4290G= n.722+4290G= c.2006C= (p.Ala669=) c.1703C= (p.Ala568=) c.1931C= (p.Ala644=) n.4419C= n.5075C= n.5535C= | dbSNP |