| | | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (splice donor variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (synonymous variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | DPAGT1, LOC126861360 (S57F) | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | DPAGT1, LOC126861360 (T27fs) | Deletion (frameshift variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (nonsense) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | DPAGT1, LOC126861360 (H92D) | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | DPAGT1, LOC126861360 (P55A) | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 13 +1 more | |
| | DPAGT1, LOC126861360 (I54F) | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation | |
| | | Deletion | DPAGT1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 13 +1 more | |
| | DPAGT1, LOC126861360 (V26I) | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | DPAGT1, LOC126861360 (L41I) | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | DPAGT1, LOC126861360 (L41V) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (synonymous variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (nonsense) | Congenital myasthenic syndrome 13 +2 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | DPAGT1, LOC126861360 (V26A) | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 13 +1 more | |
| | DPAGT1, LOC126861360 (S5W) | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | DPAGT1, LOC126861360 (H35Y) | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (splice donor variant) | DPAGT1-congenital disorder of glycosylation | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (synonymous variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (synonymous variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (intron variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (synonymous variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (intron variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital myasthenic syndrome 13 +1 more | |
| | | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | DPAGT1, LOC126861360 (H93D) | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation +1 more | |
| | | Single nucleotide variant (missense variant) | DPAGT1-congenital disorder of glycosylation +1 more | |