| 基因名 | 突变 |
|---|---|
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90744972C>T,c.2980G>A,p.V994I |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90744939_90744940insAGG,c.3012_3013insCCT,p.1004_1005ins1aa |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90744936T>C,c.3016A>G,p.I1006V |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90744896G>A,c.3056C>T,p.T1019M |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90744847G>T,c.3105C>A,p.S1035R |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90744786T>A,c.3166A>T,p.M1056L |
| SPATA31C2(NM_001166137,SPATA31 subfamily C, member 2,1134aa) | g.9:90744713T>A,c.3239A>T,p.Q1080L |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90538288C>T,c.3466C>T,p.R1156X |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90538006A>T,c.3184A>T,p.M1062L |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90537986G>T,c.3164G>T,p.S1055I |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90537892G>C,c.3070G>C,p.E1024Q |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90537856A>G,c.3034A>G,p.I1012V |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90537803C>T,c.2981C>T,p.T994I |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90537739C>T,c.2917C>T,p.H973Y |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90537410G>C,c.2588G>C,p.S863T |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90536954C>T,c.2132C>T,p.T711M |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90536804C>T,c.1982C>T,p.A661V |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90536780A>G,c.1958A>G,p.E653G |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90536411C>G,c.1589C>G,p.T530S |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90535952C>G,c.1130C>G,p.P377R |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90535894G>A,c.1072G>A,p.E358K |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90535870C>T,c.1048C>T,p.R350W |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90535829G>A,c.1007G>A,p.G336E |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90535756G>C,c.934G>C,p.D312H |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90535732A>G,c.910A>G,p.I304V |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90535301T>C,c.479T>C,p.I160T |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90534219G>A,c.239G>A,p.R80Q |
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90534212A>G,c.232A>G,p.T78A |