| 基因名 | 突变 |
|---|---|
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103544374C>G,c.328G>C,p.G110R |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103540265G>A,c.560C>T,p.T187M |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103540214G>A,c.611C>T,p.T204M |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103491461T>G,c.828A>C,p.K276N |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103491164G>T,c.939C>A,p.N313K |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103488522C>G,c.1057G>C,p.E353Q |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103471837G>A,c.1754C>T,p.T585M |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103453270T>A,c.2457A>T,p.R819S |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103444970A>T,c.2614T>A,p.F872I |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103444939C>T,c.2645G>A,p.R882Q |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103444283G>A,c.2771C>T,p.P924L |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103428312G>T,c.2957C>A,p.P986Q |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103412470T>C,c.3247A>G,p.I1083V |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103412452G>T,c.3265C>A,p.P1089T |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103412451G>A,c.3266C>T,p.P1089L |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103381192C>A,c.3847G>T,p.V1283L |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103380315G>C,c.3905C>G,p.A1302G |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103379918G>A,c.4004C>T,p.P1335L |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103377744C>T,c.4093G>A,p.A1365T |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103355112G>A,c.4399C>T,p.P1467S |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103355059G>T,c.4452C>A,p.D1484E |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103354445G>A,c.4531C>T,p.P1511S |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103354138A>G,c.4639T>C,p.S1547P |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103354135G>C,c.4642C>G,p.P1548A |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103345315C>T,c.5234G>A,p.R1745H |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103343637C>T,c.5395G>A,p.D1799N |
| COL10A1(NM_000493,collagen, type X, alpha 1,680aa) | g.6:116446576A>G,c.80T>C,p.M27T |
| COL10A1(NM_000493,collagen, type X, alpha 1,680aa) | g.6:116446506A>T,c.150T>A,p.S50R |