| 基因名 | 突变 |
|---|---|
| SAMD3(NM_001258275,sterile alpha motif domain containing 3,520aa) | g.6:130536378A>G,c.41T>C,p.V14A |
| SAMD3(NM_001258275,sterile alpha motif domain containing 3,520aa) | g.6:130535651C>T,c.100G>A,p.A34T |
| SAMD3(NM_001258275,sterile alpha motif domain containing 3,520aa) | g.6:130535635T>C,c.116A>G,p.N39S |
| SAMD3(NM_001258275,sterile alpha motif domain containing 3,520aa) | g.6:130535510G>C,c.241C>G,p.L81V |
| SAMD3(NM_001258275,sterile alpha motif domain containing 3,520aa) | g.6:130530725C>A,c.298G>T,p.A100S |
| SAMD3(NM_001258275,sterile alpha motif domain containing 3,520aa) | g.6:130505611C>T,c.541G>A,p.D181N |
| SAMD3(NM_001258275,sterile alpha motif domain containing 3,520aa) | g.6:130505247C>T,c.654+1G>A,p.218Donor |
| SAMD3(NM_001258275,sterile alpha motif domain containing 3,520aa) | g.6:130476007A>G,c.986T>C,p.I329T |
| SAMD3(NM_001258275,sterile alpha motif domain containing 3,520aa) | g.6:130467238G>A,c.1112C>T,p.T371I |
| SAMD3(NM_001258275,sterile alpha motif domain containing 3,520aa) | g.6:130465850C>T,c.1378G>A,p.D460N |
| SAMD3(NM_001258275,sterile alpha motif domain containing 3,520aa) | g.6:130465825G>T,c.1403C>A,p.A468E |
| SAMD1(NM_138352,sterile alpha motif domain containing 1,432aa) | g.19:14200156C>T,c.655G>A,p.V219I |
| SAMD1(NM_138352,sterile alpha motif domain containing 1,432aa) | g.19:14200141C>T,c.670G>A,p.E224K |
| SAMD1(NM_138352,sterile alpha motif domain containing 1,432aa) | g.19:14200130A>T,c.681T>A,p.D227E |
| SAMD1(NM_138352,sterile alpha motif domain containing 1,432aa) | g.19:14200109T>A,c.702A>T,p.E234D |
| SAMD1(NM_138352,sterile alpha motif domain containing 1,432aa) | g.19:14200107_14200112del,c.699_704del,p.233_235del |
| SAMD1(NM_138352,sterile alpha motif domain containing 1,432aa) | g.19:14200066G>A,c.745C>T,p.R249C |
| SAMD1(NM_138352,sterile alpha motif domain containing 1,432aa) | g.19:14199987G>A,c.824C>T,p.T275I |
| SAMD1(NM_138352,sterile alpha motif domain containing 1,432aa) | g.19:14199912G>A,c.899C>T,p.S300F |
| SAMD1(NM_138352,sterile alpha motif domain containing 1,432aa) | g.19:14199788G>A,c.932C>T,p.A311V |
| SAMD15(NM_001010860,sterile alpha motif domain containing 15,674aa) | g.14:77857427G>A,c.1865G>A,p.R622K |
| SAMD15(NM_001010860,sterile alpha motif domain containing 15,674aa) | g.14:77845346G>A,c.1585G>A,p.E529K |
| SAMD15(NM_001010860,sterile alpha motif domain containing 15,674aa) | g.14:77845283G>A,c.1522G>A,p.V508I |
| SAMD15(NM_001010860,sterile alpha motif domain containing 15,674aa) | g.14:77845282C>G,c.1521C>G,p.F507L |
| SAMD15(NM_001010860,sterile alpha motif domain containing 15,674aa) | g.14:77845262C>G,c.1501C>G,p.Q501E |
| SAMD15(NM_001010860,sterile alpha motif domain containing 15,674aa) | g.14:77845145T>A,c.1384T>A,p.L462I |
| SAMD15(NM_001010860,sterile alpha motif domain containing 15,674aa) | g.14:77845121A>G,c.1360A>G,p.K454E |
| SAMD15(NM_001010860,sterile alpha motif domain containing 15,674aa) | g.14:77845056A>G,c.1295A>G,p.Y432C |