| 基因名 | 突变 |
|---|---|
| COL24A1(NM_152890,collagen, type XXIV, alpha 1,1714aa) | g.1:86361571G>T,c.2892C>A,p.N964K |
| COL24A1(NM_152890,collagen, type XXIV, alpha 1,1714aa) | g.1:86334302G>C,c.3200C>G,p.P1067R |
| COL24A1(NM_152890,collagen, type XXIV, alpha 1,1714aa) | g.1:86304317G>A,c.3632C>T,p.P1211L |
| COL24A1(NM_152890,collagen, type XXIV, alpha 1,1714aa) | g.1:86289373G>T,c.3730C>A,p.P1244T |
| COL24A1(NM_152890,collagen, type XXIV, alpha 1,1714aa) | g.1:86249192G>T,c.4271C>A,p.P1424H |
| COL24A1(NM_152890,collagen, type XXIV, alpha 1,1714aa) | g.1:86210408C>T,c.4613G>A,p.R1538Q |
| COL24A1(NM_152890,collagen, type XXIV, alpha 1,1714aa) | g.1:86200556G>A,c.4874C>T,p.T1625I |
| COL24A1(NM_152890,collagen, type XXIV, alpha 1,1714aa) | g.1:86200509C>T,c.4921G>A,p.G1641S |
| COL24A1(NM_152890,collagen, type XXIV, alpha 1,1714aa) | g.1:86200461C>G,c.4969G>C,p.E1657Q |
| COL23A1(NM_173465,collagen, type XXIII, alpha 1,540aa) | g.5:177987740C>T,c.304G>A,p.G102R |
| COL23A1(NM_173465,collagen, type XXIII, alpha 1,540aa) | g.5:177690291G>A,c.557C>T,p.P186L |
| COL23A1(NM_173465,collagen, type XXIII, alpha 1,540aa) | g.5:177690277G>A,c.571C>T,p.P191S |
| COL23A1(NM_173465,collagen, type XXIII, alpha 1,540aa) | g.5:177690265G>A,c.583C>T,p.R195W |
| COL23A1(NM_173465,collagen, type XXIII, alpha 1,540aa) | g.5:177690264C>T,c.584G>A,p.R195Q |
| COL23A1(NM_173465,collagen, type XXIII, alpha 1,540aa) | g.5:177689216A>G,c.675+2T>C,p.225Donor |
| COL23A1(NM_173465,collagen, type XXIII, alpha 1,540aa) | g.5:177683905G>A,c.799C>T,p.R267W |
| COL23A1(NM_173465,collagen, type XXIII, alpha 1,540aa) | g.5:177683377T>C,c.859A>G,p.T287A |
| COL23A1(NM_173465,collagen, type XXIII, alpha 1,540aa) | g.5:177679589C>T,c.970G>A,p.G324R |
| COL23A1(NM_173465,collagen, type XXIII, alpha 1,540aa) | g.5:177676141C>T,c.1126G>A,p.E376K |
| COL23A1(NM_173465,collagen, type XXIII, alpha 1,540aa) | g.5:177676119G>A,c.1148C>T,p.P383L |
| COL23A1(NM_173465,collagen, type XXIII, alpha 1,540aa) | g.5:177674821T>C,c.1224A>G,p.I408M |
| COL23A1(NM_173465,collagen, type XXIII, alpha 1,540aa) | g.5:177673423G>A,c.1328C>T,p.A443V |
| COL23A1(NM_173465,collagen, type XXIII, alpha 1,540aa) | g.5:177673296G>A,c.1372C>T,p.P458S |
| COL22A1(NM_152888,collagen, type XXII, alpha 1,1626aa) | g.8:139890388G>T,c.263C>A,p.T88K |
| COL22A1(NM_152888,collagen, type XXII, alpha 1,1626aa) | g.8:139890176G>C,c.475C>G,p.L159V |
| COL22A1(NM_152888,collagen, type XXII, alpha 1,1626aa) | g.8:139890161C>T,c.490G>A,p.A164T |
| COL22A1(NM_152888,collagen, type XXII, alpha 1,1626aa) | g.8:139856384C>T,c.676G>A,p.V226I |
| COL22A1(NM_152888,collagen, type XXII, alpha 1,1626aa) | g.8:139845316G>A,c.811C>T,p.R271W |