| 基因名 | 突变 |
|---|---|
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149482796G>C,c.3212G>C,p.R1071P |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149482784C>T,c.3200C>T,p.A1067V |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149482610G>A,c.3026G>A,p.R1009Q |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149482585C>T,c.3001C>T,p.R1001W |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149482580G>A,c.2996G>A,p.R999Q |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149482094C>T,c.2882C>T,p.T961M |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149482090G>C,c.2878G>C,p.G960R |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149481994G>T,c.2782G>T,p.V928F |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149481948C>T,c.2738C>T,p.T913M |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149481039G>A,c.2521G>A,p.G841S |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149480714G>C,c.2420G>C,p.R807P |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149480669C>T,c.2375C>T,p.P792L |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149480638C>T,c.2344C>T,p.R782C |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149480598G>A,c.2305-1G>A,p.769Acceptor |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149480375G>A,c.2257G>A,p.A753T |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149480243C>A,c.2125C>A,p.L709M |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149480091_149480092insC,c.2057_2058insC,p.686fs |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149480046A>G,c.2012A>G,p.Q671R |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149479977T>C,c.1943T>C,p.I648T |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149479269G>C,c.1783-1G>C,p.595Acceptor |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149477955G>A,c.1726G>A,p.D576N |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149477547C>T,c.1618C>T,p.R540C |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149477104G>A,c.1281G>A,p.M427I |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149476742C>A,c.1192C>A,p.L398M |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149476671T>C,c.1121T>C,p.L374P |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149476666_149476667insC,c.1117insC,p.373fs |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149476119G>T,c.997G>T,p.D333Y |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149475926G>A,c.892G>A,p.V298M |