| 基因名 | 突变 |
|---|---|
| ABHD15(NM_198147,abhydrolase domain containing 15,468aa) | g.17:27893893C>A,c.92G>T,p.R31L |
| ABHD15(NM_198147,abhydrolase domain containing 15,468aa) | g.17:27893695G>C,c.290C>G,p.P97R |
| ABHD15(NM_198147,abhydrolase domain containing 15,468aa) | g.17:27893566del,c.419del,p.140fs |
| ABHD15(NM_198147,abhydrolase domain containing 15,468aa) | g.17:27893300C>T,c.685G>A,p.A229T |
| ABHD15(NM_198147,abhydrolase domain containing 15,468aa) | g.17:27890082T>C,c.904A>G,p.T302A |
| ABHD15(NM_198147,abhydrolase domain containing 15,468aa) | g.17:27889986T>C,c.1000A>G,p.T334A |
| ABHD15(NM_198147,abhydrolase domain containing 15,468aa) | g.17:27889908C>T,c.1078G>A,p.D360N |
| ABHD15(NM_198147,abhydrolase domain containing 15,468aa) | g.17:27889670C>T,c.1316G>A,p.R439H |
| ABHD15(NM_198147,abhydrolase domain containing 15,468aa) | g.17:27889644G>A,c.1342C>T,p.R448W |
| ABHD15(NM_198147,abhydrolase domain containing 15,468aa) | g.17:27889643C>T,c.1343G>A,p.R448Q |
| ABHD14A(NM_015407,abhydrolase domain containing 14A,271aa) | g.3:52014910G>A,c.692G>A,p.R231Q |
| ABHD14A(NM_015407,abhydrolase domain containing 14A,271aa) | g.3:52014907T>G,c.689T>G,p.L230R |
| ABHD14A(NM_015407,abhydrolase domain containing 14A,271aa) | g.3:52014897C>G,c.679C>G,p.R227G |
| ABHD14A(NM_015407,abhydrolase domain containing 14A,271aa) | g.3:52014567C>T,c.556C>T,p.H186Y |
| ABHD14A(NM_015407,abhydrolase domain containing 14A,271aa) | g.3:52014486G>A,c.475G>A,p.D159N |
| ABHD14A(NM_015407,abhydrolase domain containing 14A,271aa) | g.3:52012326G>T,c.333G>T,p.E111D |
| ABHD14A(NM_015407,abhydrolase domain containing 14A,271aa) | g.3:52012000C>G,c.183C>G,p.C61W |
| ABHD14A(NM_015407,abhydrolase domain containing 14A,271aa) | g.3:52011912G>A,c.95G>A,p.R32Q |
| ABHD13(NM_032859,abhydrolase domain containing 13,337aa) | g.13:108882399A>G,c.833A>G,p.Q278R |
| ABHD12(NM_001042472,abhydrolase domain containing 12,398aa) | g.20:25288667C>A,c.802G>T,p.A268S |
| ABHD12(NM_001042472,abhydrolase domain containing 12,398aa) | g.20:25284263C>T,c.952G>A,p.V318M |
| ABHD12(NM_001042472,abhydrolase domain containing 12,398aa) | g.20:25282967C>T,c.1045G>A,p.A349T |
| ABHD12B(NM_001206673,abhydrolase domain containing 12B,362aa) | g.14:51370852C>G,c.1003C>G,p.P335A |
| ABHD12B(NM_001206673,abhydrolase domain containing 12B,362aa) | g.14:51370849T>C,c.1000T>C,p.F334L |
| ABHD12B(NM_001206673,abhydrolase domain containing 12B,362aa) | g.14:51370807C>T,c.958C>T,p.R320C |
| ABHD12B(NM_001206673,abhydrolase domain containing 12B,362aa) | g.14:51370150G>A,c.907G>A,p.D303N |
| ABHD12B(NM_001206673,abhydrolase domain containing 12B,362aa) | g.14:51368610A>G,c.844A>G,p.I282V |
| ABHD12B(NM_001206673,abhydrolase domain containing 12B,362aa) | g.14:51352345G>A,c.500G>A,p.G167D |