| 基因名 | 突变 |
|---|---|
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7483277G>A,c.1589C>T,p.A530V |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7483242G>A,c.1624C>T,p.P542S |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7472264G>T,c.1928C>A,p.P643H |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7472129C>T,c.1973G>A,p.R658H |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7459554G>T,c.2029C>A,p.P677T |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7459536C>T,c.2047G>A,p.V683I |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7421206C>T,c.2174G>A,p.G725D |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7413031G>A,c.2506C>T,p.R836C |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7412829G>T,c.2708C>A,p.T903N |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7412809G>A,c.2728C>T,p.R910C |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7412808C>T,c.2729G>A,p.R910H |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7412716T>C,c.2821A>G,p.N941D |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117071744A>G,c.5422A>G,p.M1808V |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117070048C>T,c.5207C>T,p.T1736M |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117070038A>G,c.5197A>G,p.K1733E |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117070009A>G,c.5168A>G,p.N1723S |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117068924G>A,c.5063G>A,p.R1688Q |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117068818C>T,c.4957C>T,p.R1653W |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117063996C>T,c.4844C>T,p.P1615L |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117054410G>C,c.4504G>C,p.G1502R |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117052386G>A,c.4255G>A,p.V1419I |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117051003G>C,c.4066G>C,p.D1356H |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117050998G>A,c.4061G>A,p.R1354Q |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117050790G>A,c.4043G>A,p.R1348Q |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117044843C>T,c.3878C>T,p.T1293M |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117044597G>A,c.3758G>A,p.R1253H |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117038047G>A,c.3716G>A,p.R1239Q |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117029809C>T,c.3473C>T,p.P1158L |