| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.1758994C>A | CA276036 | CTSD | c.446G>T (p.Gly149Val) c.341G>T (p.Gly114Val) c.425G>T (p.Gly142Val) c.440G>T (p.Gly147Val) n.2874G>T n.841G>T c.*307G>T (n.*307G>T) c.-155G>T (n.-155G>T) c.401G>T (p.Gly134Val) | ClinVar dbSNP |
| 11 | g.1758994C= | CA1947828430 | CTSD | c.446G= (p.Gly149=) c.341G= (p.Gly114=) c.425G= (p.Gly142=) c.440G= (p.Gly147=) n.2874G= n.841G= c.*307G= (n.*307G=) c.-155G= (n.-155G=) c.401G= (p.Gly134=) | dbSNP |