| 基因名 | 突变 |
|---|---|
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149488786C>G,c.5237C>G,p.A1746G |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149488719C>T,c.5170C>T,p.L1724F |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149488698C>T,c.5149C>T,p.R1717W |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149488686T>G,c.5137T>G,p.W1713G |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149488591G>T,c.5042G>T,p.R1681M |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149487608T>G,c.4921+1T>G,p.1641Donor |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149487381_149487382insG,c.4695_4696insG,p.1565fs |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149486719C>G,c.4493C>G,p.S1498C |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149486424C>T,c.4400C>T,p.P1467L |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149486400G>A,c.4376G>A,p.C1459Y |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149486382C>G,c.4358C>G,p.P1453R |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149486367C>A,c.4343C>A,p.P1448Q |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149486294A>G,c.4270A>G,p.S1424G |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149485979_149485981del,c.4198_4200del,p.1400del |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149485712C>T,c.4022C>T,p.P1341L |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149485060G>A,c.3814+1G>A,p.1272Donor |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149485059T>C,c.3814T>C,p.S1272P |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149485036G>A,c.3791G>A,p.R1264H |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149485018G>A,c.3773G>A,p.R1258Q |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149484985C>A,c.3740C>A,p.S1247X |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149484976G>A,c.3731G>A,p.C1244Y |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149484822T>C,c.3644T>C,p.L1215S |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149484818A>G,c.3640A>G,p.T1214A |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149484810C>G,c.3632C>G,p.P1211R |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149484798C>T,c.3620C>T,p.A1207V |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149484654G>A,c.3576+1G>A,p.1192Donor |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149484603C>T,c.3526C>T,p.R1176C |
| SSPO(NM_198455,SCO-spondin,5147aa) | g.7:149483237G>A,c.3305G>A,p.G1102E |