| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.148809376C>T | CA345005 | EZH2 | n.3944G>A c.*1106G>A (n.*1106G>A) c.*940G>A (n.*940G>A) n.3763G>A n.3877G>A n.2360G>A n.2422G>A c.2044G>A (p.Ala682Thr) c.1912G>A (p.Ala638Thr) c.2029G>A (p.Ala677Thr) c.1876G>A (p.Ala626Thr) c.2002G>A (p.Ala668Thr) c.*2034G>A (n.*2034G>A) c.2053G>A (p.Ala685Thr) c.2026G>A (p.Ala676Thr) c.1900G>A (p.Ala634Thr) c.2068G>A (p.Ala690Thr) c.2041G>A (p.Ala681Thr) c.2020G>A (p.Ala674Thr) c.2017G>A (p.Ala673Thr) c.1978G>A (p.Ala660Thr) c.1951G>A (p.Ala651Thr) c.1945G>A (p.Ala649Thr) c.1942G>A (p.Ala648Thr) c.1936G>A (p.Ala646Thr) c.1927G>A (p.Ala643Thr) c.1924G>A (p.Ala642Thr) c.1810G>A (p.Ala604Thr) c.1717G>A (p.Ala573Thr) n.515+4291C>T n.722+4291C>T c.2005G>A (p.Ala669Thr) c.1702G>A (p.Ala568Thr) c.1930G>A (p.Ala644Thr) n.4418G>A n.5074G>A n.5534G>A | ClinVar dbSNP gnomAD v4 |
| 7 | g.148809376C= | CA1751421491 | EZH2 | n.3944G= c.*1106G= (n.*1106G=) c.*940G= (n.*940G=) n.3763G= n.3877G= n.2360G= n.2422G= c.2044G= (p.Ala682=) c.1912G= (p.Ala638=) c.2029G= (p.Ala677=) c.1876G= (p.Ala626=) c.2002G= (p.Ala668=) c.*2034G= (n.*2034G=) c.2053G= (p.Ala685=) c.2026G= (p.Ala676=) c.1900G= (p.Ala634=) c.2068G= (p.Ala690=) c.2041G= (p.Ala681=) c.2020G= (p.Ala674=) c.2017G= (p.Ala673=) c.1978G= (p.Ala660=) c.1951G= (p.Ala651=) c.1945G= (p.Ala649=) c.1942G= (p.Ala648=) c.1936G= (p.Ala646=) c.1927G= (p.Ala643=) c.1924G= (p.Ala642=) c.1810G= (p.Ala604=) c.1717G= (p.Ala573=) n.515+4291C= n.722+4291C= c.2005G= (p.Ala669=) c.1702G= (p.Ala568=) c.1930G= (p.Ala644=) n.4418G= n.5074G= n.5534G= | dbSNP |