| | | Single nucleotide variant (synonymous variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | CTNS, CTNS-AS1 (W182* +1 more) | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Deletion (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Deletion | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Duplication (frameshift variant +1 more) | Inborn genetic diseases +2 more | |
| | | Deletion (frameshift variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Deletion (intron variant) | Inborn genetic diseases +2 more | |
| | | Duplication (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | CTNS, CTNS-AS1 (G229fs +1 more) | Deletion (frameshift variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant +2 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Deletion (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ocular cystinosis +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Deletion (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Inborn genetic diseases +2 more | |
| | CTNS, CTNS-AS1 (Y173H +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Deletion (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Deletion (intron variant) | Inborn genetic diseases +2 more | |
| | | Deletion (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases +2 more | |