| | | Deletion | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Duplication | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Duplication | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Deletion | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (nonsense +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Duplication (frameshift variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (nonsense +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Deletion (frameshift variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Indel (frameshift variant +2 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (3 prime UTR variant +2 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (missense variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Duplication (frameshift variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Indel (frameshift variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (nonsense +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Indel (frameshift variant +2 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Deletion (frameshift variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (nonsense +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (intron variant) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Deletion | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Copy number gain | not provided | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Microsatellite (3 prime UTR variant +1 more) | Combined molybdoflavoprotein enzyme deficiency | |
| | | Microsatellite (3 prime UTR variant +1 more) | Combined molybdoflavoprotein enzyme deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Combined molybdoflavoprotein enzyme deficiency | |
| | | Duplication (3 prime UTR variant +1 more) | Combined molybdoflavoprotein enzyme deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Duplication (3 prime UTR variant +1 more) | Combined molybdoflavoprotein enzyme deficiency | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | |