| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.88312493T>G | CA118695 | CTSC | c.380A>C (p.His127Pro) n.428A>C c.*187A>C (n.*187A>C) c.319-3175A>C (n.319-3175A>C) c.*57A>C (n.*57A>C) c.17A>C (p.His6Pro) c.250A>C n.402A>C | ClinVar dbSNP |
| 11 | g.88312493T>C | CA6219968 | CTSC | c.380A>G (p.His127Arg) n.428A>G c.*187A>G (n.*187A>G) c.319-3175A>G (n.319-3175A>G) c.*57A>G (n.*57A>G) c.17A>G (p.His6Arg) c.250A>G n.402A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |