| 基因名 | 突变 |
|---|---|
| COL9A1(NM_001851,collagen, type IX, alpha 1,921aa) | g.6:71003892T>A,c.674A>T,p.D225V |
| COL9A1(NM_001851,collagen, type IX, alpha 1,921aa) | g.6:70990717G>A,c.902C>T,p.P301L |
| COL9A1(NM_001851,collagen, type IX, alpha 1,921aa) | g.6:70990715C>T,c.904G>A,p.G302S |
| COL9A1(NM_001851,collagen, type IX, alpha 1,921aa) | g.6:70984436A>G,c.1015T>C,p.S339P |
| COL9A1(NM_001851,collagen, type IX, alpha 1,921aa) | g.6:70972993T>C,c.1349A>G,p.E450G |
| COL9A1(NM_001851,collagen, type IX, alpha 1,921aa) | g.6:70970386C>T,c.1423G>A,p.G475S |
| COL9A1(NM_001851,collagen, type IX, alpha 1,921aa) | g.6:70961833T>C,c.1862A>G,p.Q621R |
| COL9A1(NM_001851,collagen, type IX, alpha 1,921aa) | g.6:70951719C>G,c.1946G>C,p.G649A |
| COL9A1(NM_001851,collagen, type IX, alpha 1,921aa) | g.6:70944257T>C,c.2299A>G,p.M767V |
| COL9A1(NM_001851,collagen, type IX, alpha 1,921aa) | g.6:70942319G>T,c.2470C>A,p.P824T |
| COL8A2(NM_005202,collagen, type VIII, alpha 2,703aa) | g.1:36565837C>T,c.7G>A,p.G3R |
| COL8A2(NM_005202,collagen, type VIII, alpha 2,703aa) | g.1:36565773G>C,c.71C>G,p.P24R |
| COL8A2(NM_005202,collagen, type VIII, alpha 2,703aa) | g.1:36564921G>A,c.361C>T,p.R121W |
| COL8A2(NM_005202,collagen, type VIII, alpha 2,703aa) | g.1:36564818C>T,c.464G>A,p.R155Q |
| COL8A2(NM_005202,collagen, type VIII, alpha 2,703aa) | g.1:36564142C>G,c.1140G>C,p.E380D |
| COL8A2(NM_005202,collagen, type VIII, alpha 2,703aa) | g.1:36563981C>T,c.1301G>A,p.R434H |
| COL8A2(NM_005202,collagen, type VIII, alpha 2,703aa) | g.1:36563777G>A,c.1505C>T,p.T502M |
| COL8A2(NM_005202,collagen, type VIII, alpha 2,703aa) | g.1:36563583C>T,c.1699G>A,p.G567S |
| COL8A2(NM_005202,collagen, type VIII, alpha 2,703aa) | g.1:36563558G>A,c.1724C>T,p.P575L |
| COL8A1(NM_001850,collagen, type VIII, alpha 1,744aa) | g.3:99514883G>A,c.2138G>A,p.R713Q |
| COL8A1(NM_001850,collagen, type VIII, alpha 1,744aa) | g.3:99514829G>A,c.2084G>A,p.G695D |
| COL8A1(NM_001850,collagen, type VIII, alpha 1,744aa) | g.3:99514729T>A,c.1984T>A,p.Y662N |
| COL8A1(NM_001850,collagen, type VIII, alpha 1,744aa) | g.3:99514714G>T,c.1969G>T,p.V657F |
| COL8A1(NM_001850,collagen, type VIII, alpha 1,744aa) | g.3:99514672A>G,c.1927A>G,p.R643G |
| COL8A1(NM_001850,collagen, type VIII, alpha 1,744aa) | g.3:99514601C>A,c.1856C>A,p.T619N |
| COL8A1(NM_001850,collagen, type VIII, alpha 1,744aa) | g.3:99514582T>C,c.1837T>C,p.Y613H |
| COL8A1(NM_001850,collagen, type VIII, alpha 1,744aa) | g.3:99514229_99514230insC,c.1484_1485insC,p.495fs |
| COL8A1(NM_001850,collagen, type VIII, alpha 1,744aa) | g.3:99513973C>T,c.1228C>T,p.P410S |