Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
8 | g.31111705dup | CA343149 | WRN | c.2179dup (p.Cys727LeufsTer5) c.*1793dup (n.*1793dup) n.812dup c.2098dup (p.Cys700LeufsTer5) c.580dup (p.Cys194LeufsTer5) n.2452dup c.1969dup (p.Cys657LeufsTer5) n.2480dup | ClinVar dbSNP |
8 | g.31111705T= | CA3156152468 | WRN | c.2179T= (p.Cys727=) c.*1793T= (n.*1793T=) n.812T= c.2098T= (p.Cys700=) c.580T= (p.Cys194=) n.2452T= c.1969T= (p.Cys657=) n.2480T= | dbSNP dbSNP |