| 基因名 | 突变 |
|---|---|
| COL10A1(NM_000493,collagen, type X, alpha 1,680aa) | g.6:116442897C>T,c.382G>A,p.D128N |
| COL10A1(NM_000493,collagen, type X, alpha 1,680aa) | g.6:116442686C>T,c.593G>A,p.R198H |
| COL10A1(NM_000493,collagen, type X, alpha 1,680aa) | g.6:116442533G>C,c.746C>G,p.P249R |
| COL10A1(NM_000493,collagen, type X, alpha 1,680aa) | g.6:116442506C>T,c.773G>A,p.R258Q |
| COL10A1(NM_000493,collagen, type X, alpha 1,680aa) | g.6:116442491A>G,c.788T>C,p.I263T |
| COL10A1(NM_000493,collagen, type X, alpha 1,680aa) | g.6:116442132C>T,c.1147G>A,p.G383R |
| COL10A1(NM_000493,collagen, type X, alpha 1,680aa) | g.6:116442098G>C,c.1181C>G,p.P394R |
| COL10A1(NM_000493,collagen, type X, alpha 1,680aa) | g.6:116441646C>G,c.1633G>C,p.G545R |
| COL10A1(NM_000493,collagen, type X, alpha 1,680aa) | g.6:116441597G>A,c.1682C>T,p.A561V |
| COIL(NM_004645,coilin,576aa) | g.17:55038364G>A,c.17C>T,p.T6M |
| COIL(NM_004645,coilin,576aa) | g.17:55028170C>T,c.433G>A,p.V145I |
| COIL(NM_004645,coilin,576aa) | g.17:55027498G>A,c.1105C>T,p.R369C |
| COIL(NM_004645,coilin,576aa) | g.17:55027279C>T,c.1324G>A,p.V442M |
| COIL(NM_004645,coilin,576aa) | g.17:55027115G>A,c.1367C>T,p.T456I |
| COG8(NM_032382,component of oligomeric golgi complex 8,612aa) | g.16:69369133A>G,c.704T>C,p.M235T |
| COG8(NM_032382,component of oligomeric golgi complex 8,612aa) | g.16:69369071G>A,c.766C>T,p.R256W |
| COG8(NM_032382,component of oligomeric golgi complex 8,612aa) | g.16:69368572G>A,c.1265C>T,p.T422M |
| COG8(NM_032382,component of oligomeric golgi complex 8,612aa) | g.16:69366731C>A,c.1468G>T,p.G490W |
| COG8(NM_032382,component of oligomeric golgi complex 8,612aa) | g.16:69364990G>A,c.1591C>T,p.P531S |
| COG8(NM_032382,component of oligomeric golgi complex 8,612aa) | g.16:69364968C>T,c.1613G>A,p.G538D |
| COG8(NM_032382,component of oligomeric golgi complex 8,612aa) | g.16:69364899G>A,c.1682C>T,p.T561M |
| COG8(NM_032382,component of oligomeric golgi complex 8,612aa) | g.16:69364857G>A,c.1724C>T,p.T575I |
| COG7(NM_153603,component of oligomeric golgi complex 7,770aa) | g.16:23436175C>T,c.904G>A,p.V302M |
| COG7(NM_153603,component of oligomeric golgi complex 7,770aa) | g.16:23436128G>T,c.951C>A,p.F317L |
| COG7(NM_153603,component of oligomeric golgi complex 7,770aa) | g.16:23436106C>T,c.973G>A,p.A325T |
| COG7(NM_153603,component of oligomeric golgi complex 7,770aa) | g.16:23428375G>A,c.1205C>T,p.A402V |
| COG7(NM_153603,component of oligomeric golgi complex 7,770aa) | g.16:23417560T>C,c.1499A>G,p.Y500C |
| COG7(NM_153603,component of oligomeric golgi complex 7,770aa) | g.16:23417420T>C,c.1639A>G,p.M547V |