| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.148809084dup | CA277020 | EZH2 | n.4087dup c.*1249dup (n.*1249dup) c.*1083dup (n.*1083dup) n.3906dup n.4174dup n.2503dup n.2565dup c.2187dup (p.Asp730Ter) c.2055dup (p.Asp686Ter) c.2172dup (p.Asp725Ter) c.2019dup (p.Asp674Ter) c.2145dup (p.Asp716Ter) c.*2177dup (n.*2177dup) c.2196dup (p.Asp733Ter) c.2169dup (p.Asp724Ter) c.2043dup (p.Asp682Ter) c.2211dup (p.Asp738Ter) c.2184dup (p.Asp729Ter) c.2163dup (p.Asp722Ter) c.2160dup (p.Asp721Ter) c.2121dup (p.Asp708Ter) c.2094dup (p.Asp699Ter) c.2088dup (p.Asp697Ter) c.2085dup (p.Asp696Ter) c.2079dup (p.Asp694Ter) c.2070dup (p.Asp691Ter) c.2067dup (p.Asp690Ter) c.1953dup (p.Asp652Ter) c.1860dup (p.Asp621Ter) n.515+3999dup n.722+3999dup c.2148dup (p.Asp717Ter) c.1845dup (p.Asp616Ter) c.2073dup (p.Asp692Ter) n.4561dup n.5217dup n.5677dup | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 7 | g.148809084del | CA2573331918 | EZH2 | n.4087del c.*1249del (n.*1249del) c.*1083del (n.*1083del) n.3906del n.4174del n.2503del n.2565del c.2187del (p.Phe729LeufsTer11) c.2055del (p.Phe685LeufsTer11) c.2172del (p.Phe724LeufsTer11) c.2019del (p.Phe673LeufsTer11) c.2145del (p.Phe715LeufsTer11) c.*2177del (n.*2177del) c.2196del (p.Phe732LeufsTer11) c.2169del (p.Phe723LeufsTer11) c.2043del (p.Phe681LeufsTer11) c.2211del (p.Phe737LeufsTer11) c.2184del (p.Phe728LeufsTer11) c.2163del (p.Phe721LeufsTer11) c.2160del (p.Phe720LeufsTer11) c.2121del (p.Phe707LeufsTer11) c.2094del (p.Phe698LeufsTer11) c.2088del (p.Phe696LeufsTer11) c.2085del (p.Phe695LeufsTer11) c.2079del (p.Phe693LeufsTer11) c.2070del (p.Phe690LeufsTer11) c.2067del (p.Phe689LeufsTer11) c.1953del (p.Phe651LeufsTer11) c.1860del (p.Phe620LeufsTer11) n.515+3999del n.722+3999del c.2148del (p.Phe716LeufsTer11) c.1845del (p.Phe615LeufsTer11) c.2073del (p.Phe691LeufsTer11) n.4561del n.5217del n.5677del | dbSNP |