| | | Deletion | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (missense variant +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (missense variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Duplication (frameshift variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Microsatellite (frameshift variant +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (nonsense +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital disorder of deglycosylation | |
| | | Duplication (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Deletion (frameshift variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Duplication (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Duplication (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Deletion (frameshift variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of deglycosylation | |
| | | Deletion (frameshift variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of deglycosylation | |
| | | Duplication (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Duplication (frameshift variant +1 more) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (splice donor variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Duplication (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Duplication (intron variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (nonsense) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital disorder of deglycosylation | |