| | | Single nucleotide variant (intron variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Copy number loss | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (intron variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (nonsense) | FRAXE | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | FRAXE | |
| | | Single nucleotide variant (intron variant) | FRAXE | |
| | | Single nucleotide variant (missense variant +1 more) | FRAXE +1 more | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE | |
| | | Single nucleotide variant (intron variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | Alpha-1-antitrypsin deficiency | |
| | | Copy number loss | FRAXE | |
| | | Single nucleotide variant (missense variant) | FRAXE +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | FRAXE +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | FRAXE +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | FRAXE | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | FRAXE +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion | FRAXE | |
| | | Single nucleotide variant (missense variant) | Chronic obstructive pulmonary disease +7 more | |
| | | Microsatellite | FRAXE | |