| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.1759569G>A | CA314368 | CTSD | c.299C>T (p.Ser100Phe) c.194C>T (p.Ser65Phe) c.278C>T (p.Ser93Phe) c.293C>T (p.Ser98Phe) n.2727C>T n.694C>T c.*160C>T (n.*160C>T) c.254C>T (p.Ser85Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1759569G= | CA1947834716 | CTSD | c.299C= (p.Ser100=) c.194C= (p.Ser65=) c.278C= (p.Ser93=) c.293C= (p.Ser98=) n.2727C= n.694C= c.*160C= (n.*160C=) c.254C= (p.Ser85=) | dbSNP |