| 基因名 | 突变 |
|---|---|
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84606704A>C,c.1319A>C,p.K440T |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84606647A>G,c.1262A>G,p.K421R |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84606565T>C,c.1180T>C,p.S394P |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84606551T>C,c.1166T>C,p.F389S |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84606404C>T,c.1019C>T,p.A340V |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84606343A>G,c.958A>G,p.I320V |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84606335G>A,c.950G>A,p.S317N |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84606251T>G,c.866T>G,p.I289S |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84606157T>C,c.772T>C,p.S258P |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84606139C>T,c.754C>T,p.H252Y |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84605971C>A,c.586C>A,p.P196T |
| SPATA31D1(NM_001001670,SPATA31 subfamily D, member 1,1576aa) | g.9:84603796T>A,c.63T>A,p.H21Q |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90747537C>T,c.415G>A,p.G139R |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90747509G>C,c.443C>G,p.T148R |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90747272G>A,c.680C>T,p.P227L |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90747246G>A,c.706C>T,p.R236W |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90747137C>G,c.815G>C,p.G272A |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90747060C>T,c.892G>A,p.V298I |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90747023C>T,c.929G>A,p.R310H |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90746922A>G,c.1030T>C,p.W344R |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90746790C>T,c.1162G>A,p.A388T |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90746574G>A,c.1378C>T,p.R460C |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90746393A>T,c.1559T>A,p.I520N |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90746246C>G,c.1706G>C,p.R569T |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90746162C>T,c.1790G>A,p.R597H |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90746033G>A,c.1919C>T,p.P640L |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90746012C>T,c.1940G>A,p.G647E |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90745671T>C,c.2281A>G,p.T761A |