| 基因名 | 突变 |
|---|---|
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121383446G>C,c.5367G>C,p.M1789I |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121383418C>A,c.5339C>A,p.T1780N |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121357724G>A,c.4999G>A,p.A1667T |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121357700C>G,c.4975C>G,p.P1659A |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121344960G>A,c.4771G>A,p.A1591T |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121301887T>C,c.4118T>C,p.I1373T |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121298156G>C,c.4024G>C,p.V1342L |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121293179G>A,c.3705G>A,p.M1235I |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121292257G>A,c.3565G>A,p.V1189I |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121290743A>G,c.3407A>G,p.K1136R |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121282399A>G,c.3199A>G,p.T1067A |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121275205A>G,c.2968A>G,p.K990E |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121267554G>A,c.2828G>A,p.R943H |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121267497A>G,c.2771A>G,p.N924S |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121267490G>A,c.2764G>A,p.V922I |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121259936C>T,c.2564C>T,p.P855L |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121259915C>T,c.2543C>T,p.T848M |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121259861C>T,c.2489C>T,p.S830L |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121256206C>T,c.2438C>T,p.T813M |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121243738G>A,c.2230G>A,p.G744S |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121237345A>G,c.1756A>G,p.T586A |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121228679A>C,c.1687A>C,p.N563H |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121222046G>A,c.1373G>A,p.S458N |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121220518G>A,c.1239G>A,p.M413I |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121220474G>A,c.1195G>A,p.V399M |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121216031G>A,c.961G>A,p.D321N |
| COL14A1(NM_021110,collagen, type XIV, alpha 1,1796aa) | g.8:121160097C>T,c.16C>T,p.R6C |
| COL13A1(NM_001130103,collagen, type XIII, alpha 1,717aa) | g.10:71712671A>G,c.2059A>G,p.K687E |