| 基因名 | 突变 |
|---|---|
| COL2A1(NM_001844,collagen, type II, alpha 1,1487aa) | g.12:48390360C>T,c.580G>A,p.A194T |
| COL2A1(NM_001844,collagen, type II, alpha 1,1487aa) | g.12:48379357C>T,c.1694G>A,p.R565H |
| COL2A1(NM_001844,collagen, type II, alpha 1,1487aa) | g.12:48377898G>A,c.1913C>T,p.T638I |
| COL2A1(NM_001844,collagen, type II, alpha 1,1487aa) | g.12:48374388G>A,c.2574C>T,p.G858G |
| COL2A1(NM_001844,collagen, type II, alpha 1,1487aa) | g.12:48372421G>T,c.2854C>A,p.P952T |
| COL2A1(NM_001844,collagen, type II, alpha 1,1487aa) | g.12:48371797C>T,c.3107G>A,p.R1036Q |
| COL2A1(NM_001844,collagen, type II, alpha 1,1487aa) | g.12:48371141C>T,c.3235G>A,p.A1079T |
| COL2A1(NM_001844,collagen, type II, alpha 1,1487aa) | g.12:48369273T>G,c.3713A>C,p.Y1238S |
| COL2A1(NM_001844,collagen, type II, alpha 1,1487aa) | g.12:48369250C>T,c.3736G>A,p.G1246S |
| COL2A1(NM_001844,collagen, type II, alpha 1,1487aa) | g.12:48368541C>T,c.3991G>A,p.V1331I |
| COL2A1(NM_001844,collagen, type II, alpha 1,1487aa) | g.12:48367976C>T,c.4213G>A,p.G1405S |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7571257A>G,c.403T>C,p.Y135H |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7571214C>T,c.446G>A,p.R149H |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7571197C>T,c.463G>A,p.V155M |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7571115C>T,c.545G>A,p.G182E |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7571094G>C,c.566C>G,p.A189G |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7561580T>C,c.715A>G,p.I239V |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7557462C>T,c.820G>A,p.A274T |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7545691G>C,c.980C>G,p.T327S |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7530225C>A,c.1079G>T,p.G360V |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7529037C>G,c.1147G>C,p.G383R |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7514235C>G,c.1299G>C,p.E433D |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7495735T>C,c.1311A>G,p.I437M |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7493097C>G,c.1414G>C,p.A472P |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7491996G>C,c.1463C>G,p.P488R |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7484105T>C,c.1525A>G,p.I509V |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7484104A>G,c.1526T>C,p.I509T |
| COL28A1(NM_001037763,collagen, type XXVIII, alpha 1,1125aa) | g.7:7484086G>A,c.1544C>T,p.P515L |