| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.1759606G>C | CA314342 | CTSD | c.262C>G (p.Pro88Ala) c.157C>G (p.Pro53Ala) c.241C>G (p.Pro81Ala) c.256C>G (p.Pro86Ala) n.2690C>G n.657C>G c.*123C>G (n.*123C>G) c.217C>G (p.Pro73Ala) | ClinVar dbSNP |
| 11 | g.1759606G>T | CA379098477 | CTSD | c.262C>A (p.Pro88Thr) c.157C>A (p.Pro53Thr) c.241C>A (p.Pro81Thr) c.256C>A (p.Pro86Thr) n.2690C>A n.657C>A c.*123C>A (n.*123C>A) c.217C>A (p.Pro73Thr) | dbSNP gnomAD v4 |
| 11 | g.1759606G>A | CA379098473 | CTSD | c.262C>T (p.Pro88Ser) c.157C>T (p.Pro53Ser) c.241C>T (p.Pro81Ser) c.256C>T (p.Pro86Ser) n.2690C>T n.657C>T c.*123C>T (n.*123C>T) c.217C>T (p.Pro73Ser) | ClinVar dbSNP |
| 11 | g.1759606G= | CA1947834824 | CTSD | c.262C= (p.Pro88=) c.157C= (p.Pro53=) c.241C= (p.Pro81=) c.256C= (p.Pro86=) n.2690C= n.657C= c.*123C= (n.*123C=) c.217C= (p.Pro73=) | dbSNP |