| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.1761364G>A | CA288797 | CTSD | c.173C>T (p.Ala58Val) c.68C>T (p.Ala23Val) n.2601C>T c.*34C>T (n.*34C>T) c.128C>T (p.Ala43Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.1761364G= | CA1947836679 | CTSD | c.173C= (p.Ala58=) c.68C= (p.Ala23=) n.2601C= c.*34C= (n.*34C=) c.128C= (p.Ala43=) | dbSNP |
| 11 | g.1761364G>T | CA379099575 | CTSD | c.173C>A (p.Ala58Glu) c.68C>A (p.Ala23Glu) n.2601C>A c.*34C>A (n.*34C>A) c.128C>A (p.Ala43Glu) | ClinVar dbSNP |
| 11 | g.1761364G>C | CA379099572 | CTSD | c.173C>G (p.Ala58Gly) c.68C>G (p.Ala23Gly) n.2601C>G c.*34C>G (n.*34C>G) c.128C>G (p.Ala43Gly) | dbSNP |