| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.56844040dup | CA332173 | DGKE,TRIM25 | c.486dup (p.Val163SerfsTer3) c.*314-250dup (n.*314-250dup) n.22dup c.316dup n.634dup c.540dup (p.Val181SerfsTer3) c.30dup (p.Val11SerfsTer3) n.639dup n.672dup n.651dup n.652dup n.650dup | ClinVar dbSNP |
| 17 | g.56844040A= | CA3223297965 | DGKE,TRIM25 | c.486A= (p.Thr162=) c.*314-250T= (n.*314-250T=) n.22A= c.316A= n.634A= c.540A= (p.Thr180=) c.30A= (p.Thr10=) n.639A= n.672A= n.651A= n.652A= n.650A= | dbSNP dbSNP |