| 基因名 | 突变 |
|---|---|
| ABHD1(NM_032604,abhydrolase domain containing 1,405aa) | g.2:27353513G>A,c.1119G>A,p.M373I |
| ABHD1(NM_032604,abhydrolase domain containing 1,405aa) | g.2:27353507G>C,c.1113G>C,p.W371C |
| ABHD1(NM_032604,abhydrolase domain containing 1,405aa) | g.2:27353458G>A,c.1064G>A,p.R355Q |
| ABHD1(NM_032604,abhydrolase domain containing 1,405aa) | g.2:27353431C>A,c.1037C>A,p.P346H |
| ABHD1(NM_032604,abhydrolase domain containing 1,405aa) | g.2:27353219T>C,c.941T>C,p.I314T |
| ABHD1(NM_032604,abhydrolase domain containing 1,405aa) | g.2:27352795G>A,c.791G>A,p.R264Q |
| ABHD1(NM_032604,abhydrolase domain containing 1,405aa) | g.2:27352794C>T,c.790C>T,p.R264X |
| ABHD1(NM_032604,abhydrolase domain containing 1,405aa) | g.2:27351948T>G,c.411T>G,p.D137E |
| ABHD17B(NM_001025780,abhydrolase domain containing 17B,288aa) | g.9:74489863C>T,c.134G>A,p.R45H |
| ABHD17A(NM_031213,abhydrolase domain containing 17A,361aa) | g.19:1881453A>C,c.113T>G,p.V38G |
| ABHD17A(NM_031213,abhydrolase domain containing 17A,361aa) | g.19:1881408A>G,c.158T>C,p.L53S |
| ABHD17A(NM_031213,abhydrolase domain containing 17A,361aa) | g.19:1881273C>T,c.293G>A,p.R98H |
| ABHD17A(NM_031213,abhydrolase domain containing 17A,361aa) | g.19:1880950T>C,c.430A>G,p.K144E |
| ABHD17A(NM_031213,abhydrolase domain containing 17A,361aa) | g.19:1879945C>T,c.655G>A,p.A219T |
| ABHD16B(NM_080622,abhydrolase domain containing 16B,469aa) | g.20:62494241G>A,c.1348G>A,p.V450M |
| ABHD16B(NM_080622,abhydrolase domain containing 16B,469aa) | g.20:62494224G>T,c.1331G>T,p.R444L |
| ABHD16B(NM_080622,abhydrolase domain containing 16B,469aa) | g.20:62494191G>C,c.1298G>C,p.R433P |
| ABHD16B(NM_080622,abhydrolase domain containing 16B,469aa) | g.20:62493978G>A,c.1085G>A,p.R362Q |
| ABHD16B(NM_080622,abhydrolase domain containing 16B,469aa) | g.20:62493384C>T,c.491C>T,p.P164L |
| ABHD16B(NM_080622,abhydrolase domain containing 16B,469aa) | g.20:62493371C>T,c.478C>T,p.R160C |
| ABHD16B(NM_080622,abhydrolase domain containing 16B,469aa) | g.20:62493249T>A,c.356T>A,p.M119K |
| ABHD16B(NM_080622,abhydrolase domain containing 16B,469aa) | g.20:62493036G>A,c.143G>A,p.R48Q |
| ABHD16B(NM_080622,abhydrolase domain containing 16B,469aa) | g.20:62492922T>A,c.29T>A,p.L10Q |
| ABHD16A(NM_001177515,abhydrolase domain containing 16A,525aa) | g.6:31664748G>A,c.307C>T,p.R103W |
| ABHD16A(NM_001177515,abhydrolase domain containing 16A,525aa) | g.6:31661164C>T,c.376G>A,p.D126N |
| ABHD16A(NM_001177515,abhydrolase domain containing 16A,525aa) | g.6:31660879C>A,c.452G>T,p.R151L |
| ABHD16A(NM_001177515,abhydrolase domain containing 16A,525aa) | g.6:31655669C>T,c.1280G>A,p.R427Q |
| ABHD16A(NM_001177515,abhydrolase domain containing 16A,525aa) | g.6:31655512T>C,c.1354A>G,p.I452V |