| 基因名 | 突变 |
|---|---|
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46924451G>A,c.3380G>A,p.R1127H |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46924434A>C,c.3365-2A>C,p.1122Acceptor |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46924426_46924434del,c.3364del,p.1122fs |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46924417_46924434del,c.3355_3364del,p.1119fs |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46924384G>A,c.3322G>A,p.G1108R |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46913477G>C,c.2880G>C,p.Q960H |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46911214G>A,c.2683G>A,p.V895M |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46911188C>G,c.2657C>G,p.P886R |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46910210G>A,c.2521G>A,p.V841I |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46906833C>T,c.2300C>T,p.A767V |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46902721G>A,c.2227G>A,p.A743T |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46897358C>T,c.1502C>T,p.T501M |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46896386C>T,c.1460C>T,p.S487L |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46896377C>T,c.1451C>T,p.T484M |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46896302C>T,c.1376C>T,p.P459L |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46895394C>T,c.1283C>T,p.S428F |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46893848G>A,c.1231G>A,p.V411M |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46893834G>A,c.1217G>A,p.R406H |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46888653G>A,c.1144G>A,p.G382R |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46888627G>A,c.1118G>A,p.R373Q |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46888416G>A,c.907G>A,p.V303M |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46888290C>T,c.781C>T,p.R261W |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46888275A>C,c.766A>C,p.S256R |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46876004C>T,c.560C>T,p.T187I |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46875982G>A,c.538G>A,p.A180T |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46875961G>A,c.517G>A,p.G173S |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46875959G>A,c.515G>A,p.R172H |
| COL18A1(NM_030582,collagen, type XVIII, alpha 1,1516aa) | g.21:46875874G>A,c.430G>A,p.V144I |