| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.1754969dup | CA258043 | CTSD | c.764dup (p.Tyr255Ter) c.659dup (p.Tyr220Ter) c.189dup n.380dup c.743dup (p.Tyr248Ter) c.758dup (p.Tyr253Ter) n.362dup n.3192dup n.72dup c.*625dup (n.*625dup) c.164dup (p.Tyr55Ter) c.719dup (p.Tyr240Ter) | ClinVar dbSNP |
| 11 | g.1754969T= | CA3182867859 | CTSD | c.764A= (p.Tyr255=) c.659A= (p.Tyr220=) c.189A= n.380A= c.743A= (p.Tyr248=) c.758A= (p.Tyr253=) n.362A= n.3192A= n.72A= c.*625A= (n.*625A=) c.164A= (p.Tyr55=) c.719A= (p.Tyr240=) | dbSNP |