| 基因名 | 突变 |
|---|---|
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47423509C>T,c.2669C>T,p.S890L |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47423502C>T,c.2662C>T,p.R888W |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47423482C>T,c.2642C>T,p.T881M |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47423475A>G,c.2635A>G,p.S879G |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47423454C>T,c.2614C>T,p.R872W |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47423389G>A,c.2549G>A,p.R850H |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47423040A>G,c.2441A>G,p.K814R |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47422614G>T,c.2424G>T,p.Q808H |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47422538G>A,c.2348G>A,p.R783Q |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47421199G>A,c.1855G>A,p.V619M |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47417641G>A,c.1489G>A,p.G497R |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47417627C>T,c.1475C>T,p.A492V |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47412687G>A,c.1298G>A,p.R433Q |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47410331G>A,c.997G>A,p.V333M |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47406936G>A,c.667G>A,p.D223N |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47406900C>T,c.631C>T,p.R211C |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47406601T>A,c.588+2T>A,p.196Donor |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47404310G>A,c.355G>A,p.A119T |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47404305T>C,c.350T>C,p.V117A |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47404304G>A,c.349G>A,p.V117M |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47404302G>A,c.347G>A,p.S116N |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47402673G>A,c.223G>A,p.D75N |
| COL6A1(NM_001848,collagen, type VI, alpha 1,1028aa) | g.21:47402620C>A,c.170C>A,p.A57D |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10121031G>A,c.31C>T,p.R11W |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10116620G>A,c.289C>T,p.R97W |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10116508C>T,c.401G>A,p.R134H |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10116298C>T,c.530G>A,p.R177H |
| COL5A3(NM_015719,collagen, type V, alpha 3,1745aa) | g.19:10114761G>A,c.655C>T,p.R219W |