| Gene symbol |
Gene name |
Total variants |
Unique variants |
Patients |
| ADAMTS2 |
ADAM metallopeptidase with thrombospondin type 1 motif 2 |
35 |
18 |
21 |
| AEBP1 |
AE binding protein 1 |
14 |
9 |
7 |
| B3GALT6 |
beta-1,3-galactosyltransferase 6 |
76 |
40 |
38 |
| B4GALT7 |
beta-1,4-galactosyltransferase 7 |
26 |
13 |
13 |
| CHST14 |
carbohydrate sulfotransferase 14 |
56 |
20 |
28 |
| COL3A1 |
collagen type III alpha 1 chain |
1204 |
737 |
1191 |
| COL5A1 |
collagen type V alpha 1 chain |
284 |
240 |
272 |
| COL5A2 |
collagen type V alpha 2 chain |
70 |
70 |
69 |
| DSE |
dermatan sulfate epimerase |
14 |
7 |
7 |
| FKBP14 |
FKBP prolyl isomerase 14 |
55 |
7 |
28 |
| PLOD1 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 |
156 |
56 |
86 |
| PLOD3 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 3 |
10 |
6 |
5 |
| TNXB |
tenascin XB |
83 |
41 |
50 |
| |
Total of 13 gene entries |
2083 |
1264 |
1813 |
