| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CTSS, LOC128772204 (D120A) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | CTSS, LOC128772204 (R113Q) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
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