| 基因名 | 突变 |
|---|---|
| CBX7(NM_175709,chromobox homolog 7,251aa) | g.22:39530426G>A,c.578C>T,p.A193V |
| CBX6(NM_014292,chromobox homolog 6,412aa) | g.22:39262225C>G,c.1228G>C,p.A410P |
| CBX4(NM_003655,chromobox homolog 4,560aa) | g.17:77808290G>A,c.1151C>T,p.P384L |
| CBX4(NM_003655,chromobox homolog 4,560aa) | g.17:77808241_77808249del,c.1192_1200del,p.398_400del |
| CBX4(NM_003655,chromobox homolog 4,560aa) | g.17:77807939G>A,c.1502C>T,p.A501V |
| CBX4(NM_003655,chromobox homolog 4,560aa) | g.17:77807927A>G,c.1514T>C,p.V505A |
| CBX2(NM_005189,chromobox homolog 2,532aa) | g.17:77758690C>T,c.1448C>T,p.P483L |
| CBX2(NM_005189,chromobox homolog 2,532aa) | g.17:77758653C>G,c.1411C>G,p.P471A |
| CBX2(NM_005189,chromobox homolog 2,532aa) | g.17:77758597C>T,c.1355C>T,p.A452V |
| CBX2(NM_005189,chromobox homolog 2,532aa) | g.17:77758569C>T,c.1327C>T,p.R443C |
| CBX2(NM_005189,chromobox homolog 2,532aa) | g.17:77758501C>T,c.1259C>T,p.A420V |
| CBX2(NM_005189,chromobox homolog 2,532aa) | g.17:77758452A>T,c.1210A>T,p.M404L |
| CBX2(NM_005189,chromobox homolog 2,532aa) | g.17:77758359C>T,c.1117C>T,p.R373C |
| CBX2(NM_005189,chromobox homolog 2,532aa) | g.17:77758182G>A,c.940G>A,p.G314S |
| CBX2(NM_005189,chromobox homolog 2,532aa) | g.17:77758091G>T,c.849G>T,p.K283N |
| CBX2(NM_005189,chromobox homolog 2,532aa) | g.17:77758011G>A,c.769G>A,p.V257M |
| CBX2(NM_005189,chromobox homolog 2,532aa) | g.17:77757912G>A,c.670G>A,p.G224S |
| CBX2(NM_005189,chromobox homolog 2,532aa) | g.17:77757807G>A,c.565G>A,p.A189T |
| CBX2(NM_005189,chromobox homolog 2,532aa) | g.17:77757640G>T,c.398G>T,p.G133V |
| CBWD6(NM_001085457,COBW domain containing 6,395aa) | g.9:69256833A>G,c.298T>C,p.W100R |
| CBWD6(NM_001085457,COBW domain containing 6,395aa) | g.9:69247582G>C,c.431-1C>G,p.144Acceptor |
| CBWD6(NM_001085457,COBW domain containing 6,395aa) | g.9:69247537C>T,c.475G>A,p.D159N |
| CBWD6(NM_001085457,COBW domain containing 6,395aa) | g.9:69238239G>A,c.653C>T,p.T218M |
| CBWD6(NM_001085457,COBW domain containing 6,395aa) | g.9:69238234G>T,c.658C>A,p.L220I |
| CBWD6(NM_001085457,COBW domain containing 6,395aa) | g.9:69206947C>T,c.841G>A,p.V281I |
| CBWD6(NM_001085457,COBW domain containing 6,395aa) | g.9:69206924T>A,c.864A>T,p.E288D |
| CBWD6(NM_001085457,COBW domain containing 6,395aa) | g.9:69205471C>T,c.1067G>A,p.R356Q |
| CBWD3(NM_201453,COBW domain containing 3,395aa) | g.9:70914010G>T,c.1081+1G>T,p.361Donor |