| Group | AAD | AADf | AADm | hEDS | cEDS | BJH | DysA | NotEDS | DD |
| Patients with preliminary diagnoses having WES | 727 | 613 | 114 | 503 | 160 | 31 | 29 | 4 | 102 |
| Patients with likely relevant DNA variants in genes previously associated with CTDa (% of patients having WES) | |||||||||
| Patientsb with COL1A1 (6 pts)/COL1A2 (5 pts) COL11A1 (2 pts)/COL11A2 (2 pts) DNA variants (4 genes) | 15 (2.1) | 8 (1.3) | 7 (6.1)# | 13 (2.6) | 1 (0.63) | 1 (3.2) | 0 | 0 | 0 |
| “with COL3A1 (9 pts)/VWF (9 pts) DNA variant (2 genes) | 18 (2.5) | 15 (2.3) | 3 (12.7) | 13 (2.6) | 4 (2.5) | 1 (3.2) | 0 | 0 | 0 |
| “with COL5A1 (20 pts) /COL5A2 (8 pts) DNA variant (2 genes) | 28 (3.9) | 23 (3.8) | 5 (4.4) | 14 (2.8) | 11 (6.9) | 2 (6.5) | 0 | 1 (25) | 1 (0.98) |
| “with FBN1 (14 pts)/TGFB2 (3 pts)/TGFB3 (1 pt)/ TGFBR1 (2 pts) TGFBR2 (3 pts) DNA variant (5 genes) | 23 (3.2) | 21 (3.4) | 2 (1.8) | 16 (3.2) | 3 (1.9) | 2 (6.5) | 2 (6.9) | 0 | 0 |
| Patients with likely relevant DNA variants in genes associated with AAD by this studyc (% of patients having WES) | |||||||||
| “with SCN9A (6 pts)/SCN10A (5 pts)/SCN11A (3 pts) POLG (10 pts) DNA variant (4 genes) | 24 (3.3) | 22 (3.6) | 2 (1.8) | 18 (3.6) | 6 (3.8) | 0 | 0 | 0 | 2 (2.0) |
| “with COL6A1 (4 pts)/COL5A2 (1 pt)/COL6A3 (3 pts)/COL12A1 (11 pts) DNA variant (4 genes) | 19 (2.6) | 15 (2.4) | 4 (3.5) | 12 (2.4) | 4 (2.5) | 2 (6.5) | 1 (3.4) | 0 | 0 |
| “with COL7A1 (4 pts)/FLG (17 pts) DNA variant (2 genes) | 21 (2.9) | 19 (3.1) | 2 (1.8) | 14 (2.8) | 4 (2.5) | 0 | 3 (10)# | 0 | 2 (2.0) |