| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.177292107T>C | CA16618186 | NSD1 | c.5539T>C (p.Cys1847Arg) c.1054T>C (p.Cys352Arg) n.5995T>C n.828T>C c.6103T>C (p.Cys2035Arg) n.5809T>C c.6412T>C (p.Cys2138Arg) c.5605T>C (p.Cys1869Arg) n.554T>C c.1906T>C (p.Cys636Arg) c.5992T>C (p.Cys1998Arg) c.5356T>C (p.Cys1786Arg) c.2146T>C (p.Cys716Arg) | ClinVar dbSNP |
| 5 | g.177292107T>A | CA362320886 | NSD1 | c.5539T>A (p.Cys1847Ser) c.1054T>A (p.Cys352Ser) n.5995T>A n.828T>A c.6103T>A (p.Cys2035Ser) n.5809T>A c.6412T>A (p.Cys2138Ser) c.5605T>A (p.Cys1869Ser) n.554T>A c.1906T>A (p.Cys636Ser) c.5992T>A (p.Cys1998Ser) c.5356T>A (p.Cys1786Ser) c.2146T>A (p.Cys716Ser) | ClinVar dbSNP |
| 5 | g.177292107T= | CA1603532937 | NSD1 | c.5539T= (p.Cys1847=) c.1054T= (p.Cys352=) n.5995T= n.828T= c.6103T= (p.Cys2035=) n.5809T= c.6412T= (p.Cys2138=) c.5605T= (p.Cys1869=) n.554T= c.1906T= (p.Cys636=) c.5992T= (p.Cys1998=) c.5356T= (p.Cys1786=) c.2146T= (p.Cys716=) | dbSNP |