| 基因名 | 突变 |
|---|---|
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117028857C>A,c.3406C>A,p.P1136T |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117027709C>A,c.3347C>A,p.P1116Q |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117020837G>A,c.3158G>A,p.R1053Q |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117014922C>T,c.3083C>T,p.S1028L |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117012903G>A,c.2988G>A,p.M996I |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:117002747C>T,c.2815C>T,p.R939C |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116999295G>A,c.2654G>A,p.R885Q |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116984542C>T,c.2461C>T,p.L821F |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116958281C>T,c.2113C>T,p.P705S |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116958266G>A,c.2098G>A,p.G700R |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116931736G>C,c.1901G>C,p.G634A |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116931666A>T,c.1831A>T,p.I611F |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116931664C>T,c.1829C>T,p.S610L |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116931562G>T,c.1727G>T,p.S576I |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116931562G>C,c.1727G>C,p.S576T |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116931490G>A,c.1655G>A,p.R552Q |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116931445T>C,c.1610T>C,p.I537T |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116931330A>G,c.1495A>G,p.R499G |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116931145C>T,c.1310C>T,p.P437L |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116931099G>A,c.1264G>A,p.A422T |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116930998C>T,c.1163C>T,p.T388I |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116930970A>T,c.1135A>T,p.I379F |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116930865T>A,c.1030T>A,p.S344T |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116930628G>A,c.793G>A,p.A265T |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116930622G>A,c.787G>A,p.D263N |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116930620C>A,c.785C>A,p.S262Y |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116930574G>A,c.739G>A,p.G247R |
| COL27A1(NM_032888,collagen, type XXVII, alpha 1,1860aa) | g.9:116930500C>T,c.665C>T,p.T222M |