| 基因名 | 突变 |
|---|---|
| SPATA31C1(NM_001145124,SPATA31 subfamily C, member 1,1188aa) | g.9:90534206T>C,c.226T>C,p.C76R |
| SPATA31A7(NM_015667,SPATA31 subfamily A, member 7,1347aa) | g.9:65508180C>T,c.203G>A,p.R68Q |
| SPATA31A7(NM_015667,SPATA31 subfamily A, member 7,1347aa) | g.9:65507526G>C,c.289C>G,p.L97V |
| SPATA31A7(NM_015667,SPATA31 subfamily A, member 7,1347aa) | g.9:65506427T>C,c.1133A>G,p.N378S |
| SPATA31A7(NM_015667,SPATA31 subfamily A, member 7,1347aa) | g.9:65505560G>A,c.2000C>T,p.P667L |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43630553T>C,c.149A>G,p.H50R |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43627843G>A,c.844C>T,p.R282W |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43627740C>T,c.947G>A,p.S316N |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43627708C>T,c.979G>A,p.V327I |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43627707A>G,c.980T>C,p.V327A |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43627675C>A,c.1012G>T,p.V338F |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43627597C>G,c.1090G>C,p.G364R |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43627495A>G,c.1192T>C,p.C398R |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43627465A>G,c.1222T>C,p.F408L |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43627428G>A,c.1259C>T,p.P420L |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43627420G>T,c.1267C>A,p.H423N |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43627144T>G,c.1543A>C,p.K515Q |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43627015C>A,c.1672G>T,p.V558F |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43626883A>C,c.1804T>G,p.W602G |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43626820G>C,c.1867C>G,p.R623G |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43625382G>A,c.3305C>T,p.P1102L |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43625005C>A,c.3682G>T,p.V1228L |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43624907A>C,c.3780T>G,p.Y1260X |
| SPATA31A6(NM_001145196,SPATA31 subfamily A, member 6,1343aa) | g.9:43624740G>T,c.3947C>A,p.P1316H |
| SPATA31A3(NM_001083124,SPATA31 subfamily A, member 3,1347aa) | g.9:40706047A>G,c.3704A>G,p.H1235R |
| SPATA31A3(NM_001083124,SPATA31 subfamily A, member 3,1347aa) | g.9:40705843T>C,c.3500T>C,p.I1167T |
| SPATA31A3(NM_001083124,SPATA31 subfamily A, member 3,1347aa) | g.9:40705798C>A,c.3455C>A,p.P1152Q |
| SPATA31A3(NM_001083124,SPATA31 subfamily A, member 3,1347aa) | g.9:40705785G>A,c.3442G>A,p.V1148I |