| 基因名 | 突变 |
|---|---|
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33157223G>A,c.106C>T,p.R36W |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33157138C>T,c.191G>A,p.R64Q |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33157099G>T,c.230C>A,p.P77Q |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33156869C>T,c.329G>A,p.R110Q |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33156845C>G,c.353G>C,p.R118P |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33156810G>A,c.388C>T,p.R130W |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33156206C>T,c.539G>A,p.R180H |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33154514C>A,c.688G>T,p.G230W |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33154450T>A,c.752A>T,p.Q251L |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33153528C>T,c.826G>A,p.E276K |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33152819C>T,c.889G>A,p.G297S |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33151921C>T,c.1119+1G>A,p.373Donor |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33148754G>A,c.1208C>T,p.P403L |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33147564C>A,c.1378G>T,p.G460W |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33147560C>T,c.1382G>A,p.G461D |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33146747G>A,c.1615C>T,p.R539W |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33143391G>A,c.2336C>T,p.P779L |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33141678C>T,c.2555G>A,p.R852Q |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33141280G>A,c.2681C>T,p.P894L |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33138929G>A,c.3328C>T,p.P1110S |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33137202del,c.3756del,p.1252fs |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33136310G>T,c.3946C>A,p.P1316T |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33134875C>T,c.4202G>A,p.R1401Q |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33132693C>T,c.4799G>A,p.R1600Q |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33132230C>G,c.4884G>C,p.E1628D |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33132114C>T,c.5000G>A,p.R1667H |
| COL11A2(NM_080680,collagen, type XI, alpha 2,1736aa) | g.6:33131501G>A,c.5165C>T,p.P1722L |
| COL11A1(NM_080629,collagen, type XI, alpha 1,1818aa) | g.1:103548497A>C,c.138T>G,p.D46E |