| Gene symbol |
Gene name |
Total variants |
Unique variants |
Patients |
| BMP1 |
bone morphogenetic protein 1 |
28 |
14 |
15 |
| CCDC134 |
coiled-coil domain containing 134 |
4 |
1 |
2 |
| COL1A1 |
collagen type I alpha 1 chain |
2077 |
1065 |
2053 |
| COL1A2 |
collagen type I alpha 2 chain |
1089 |
612 |
1069 |
| CREB3L1 |
cAMP responsive element binding protein 3 like 1 |
10 |
5 |
5 |
| CRTAP |
cartilage associated protein |
59 |
32 |
29 |
| FAM46A |
family with sequence similarity 46 member A |
6 |
3 |
3 |
| FKBP10 |
FKBP prolyl isomerase 10 |
133 |
42 |
68 |
| IFITM5 |
interferon induced transmembrane protein 5 |
46 |
2 |
46 |
| P3H1 |
prolyl 3-hydroxylase 1 |
202 |
78 |
111 |
| P4HB |
prolyl 4-hydroxylase subunit beta |
6 |
3 |
6 |
| PLOD2 |
procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 |
32 |
15 |
16 |
| PLS3 |
plastin 3 |
13 |
13 |
13 |
| PPIB |
peptidylprolyl isomerase B |
28 |
17 |
16 |
| SEC24D |
SEC24 homolog D, COPII coat complex component |
8 |
7 |
4 |
| SERPINF1 |
serpin family F member 1 |
97 |
45 |
58 |
| SERPINH1 |
serpin family H member 1 |
16 |
13 |
12 |
| SP7 |
Sp7 transcription factor |
4 |
2 |
2 |
| SPARC |
secreted protein acidic and cysteine rich |
6 |
3 |
3 |
| TMEM38B |
transmembrane protein 38B |
28 |
6 |
14 |
| WNT1 |
Wnt family member 1 |
78 |
38 |
42 |
| |
Total of 21 gene entries |
3970 |
2016 |
3568 |
