| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | COL3A1, LOC126806446 (P812S) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | COL3A1, LOC126806446 (R794L) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |