| 基因名 | 突变 |
|---|---|
| SPATA31E1(NM_178828,SPATA31 subfamily E, member 1,1445aa) | g.9:90498000T>G,c.194T>G,p.M65R |
| SPATA31E1(NM_178828,SPATA31 subfamily E, member 1,1445aa) | g.9:90497961C>T,c.155C>T,p.P52L |
| SPATA31E1(NM_178828,SPATA31 subfamily E, member 1,1445aa) | g.9:90497948C>T,c.142C>T,p.P48S |
| SPATA31E1(NM_178828,SPATA31 subfamily E, member 1,1445aa) | g.9:90497847G>A,c.41G>A,p.G14D |
| SPATA31E1(NM_178828,SPATA31 subfamily E, member 1,1445aa) | g.9:90497819G>A,c.13G>A,p.V5I |
| SPATA31D4(NM_001145197,SPATA31 subfamily D, member 4,917aa) | g.9:84547740G>C,c.2664G>C,p.E888D |
| SPATA31D3(NM_207416,SPATA31 subfamily D, member 3,917aa) | g.9:84562902A>T,c.2734A>T,p.I912L |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84609941C>G,c.4556C>G,p.P1519R |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84609646C>T,c.4261C>T,p.H1421Y |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84609369_84609370insG,c.3984_3985insG,p.1328fs |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84609352G>T,c.3967G>T,p.V1323F |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84609179G>A,c.3794G>A,p.R1265H |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84609172G>A,c.3787G>A,p.G1263R |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84609162G>C,c.3777G>C,p.L1259F |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84609107C>T,c.3722C>T,p.S1241F |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84608900C>T,c.3515C>T,p.T1172I |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84608722G>A,c.3337G>A,p.A1113T |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84608623C>T,c.3238C>T,p.R1080W |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84608198C>A,c.2813C>A,p.S938Y |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84608121G>A,c.2736G>A,p.M912I |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84608117G>T,c.2732G>T,p.R911L |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84607945T>C,c.2560T>C,p.W854R |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84607883G>A,c.2498G>A,p.R833H |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84607768A>G,c.2383A>G,p.K795E |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84607526G>A,c.2141G>A,p.R714H |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84607492C>T,c.2107C>T,p.P703S |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84607463G>A,c.2078G>A,p.R693K |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84607046C>T,c.1661C>T,p.S554F |