| 基因名 | 突变 |
|---|---|
| PLTP(NM_006227,phospholipid transfer protein,493aa) | g.20:44531218A>G,c.968T>C,p.L323S |
| PLTP(NM_006227,phospholipid transfer protein,493aa) | g.20:44531203C>T,c.983G>A,p.R328Q |
| PLTP(NM_006227,phospholipid transfer protein,493aa) | g.20:44531185C>T,c.1001G>A,p.R334H |
| PLTP(NM_006227,phospholipid transfer protein,493aa) | g.20:44530966C>T,c.1115G>A,p.R372H |
| PLTP(NM_006227,phospholipid transfer protein,493aa) | g.20:44530943G>A,c.1138C>T,p.R380W |
| PLTP(NM_006227,phospholipid transfer protein,493aa) | g.20:44530910G>A,c.1171C>T,p.R391C |
| PLTP(NM_006227,phospholipid transfer protein,493aa) | g.20:44530909C>T,c.1172G>A,p.R391H |
| PLTP(NM_006227,phospholipid transfer protein,493aa) | g.20:44527656C>T,c.1406G>A,p.R469Q |
| PLSCR5(NM_001085420,phospholipid scramblase family, member 5,271aa) | g.3:146322998A>G,c.2T>C,p.M1T |
| PLSCR5(NM_001085420,phospholipid scramblase family, member 5,271aa) | g.3:146318211G>A,c.53C>T,p.P18L |
| PLSCR5(NM_001085420,phospholipid scramblase family, member 5,271aa) | g.3:146311775G>A,c.385C>T,p.R129X |
| PLSCR5(NM_001085420,phospholipid scramblase family, member 5,271aa) | g.3:146309652G>A,c.470C>T,p.P157L |
| PLSCR5(NM_001085420,phospholipid scramblase family, member 5,271aa) | g.3:146309506C>T,c.615+1G>A,p.205Donor |
| PLSCR5(NM_001085420,phospholipid scramblase family, member 5,271aa) | g.3:146307457C>T,c.760G>A,p.G254S |
| PLSCR4(NM_001128304,phospholipid scramblase 4,329aa) | g.3:145939856C>G,c.3G>C,p.M1I |
| PLSCR4(NM_001128304,phospholipid scramblase 4,329aa) | g.3:145938619T>C,c.101A>G,p.N34S |
| PLSCR4(NM_001128304,phospholipid scramblase 4,329aa) | g.3:145924454C>A,c.213G>T,p.L71F |
| PLSCR4(NM_001128304,phospholipid scramblase 4,329aa) | g.3:145924423G>A,c.244C>T,p.R82W |
| PLSCR4(NM_001128304,phospholipid scramblase 4,329aa) | g.3:145924422C>T,c.245G>A,p.R82Q |
| PLSCR4(NM_001128304,phospholipid scramblase 4,329aa) | g.3:145917761T>C,c.463A>G,p.I155V |
| PLSCR3(NM_020360,phospholipid scramblase 3,295aa) | g.17:7293715C>T,c.877G>A,p.V293I |
| PLSCR2(NM_001199978,phospholipid scramblase 2,297aa) | g.3:146173151G>A,c.415C>T,p.R139X |
| PLSCR2(NM_001199978,phospholipid scramblase 2,297aa) | g.3:146173135C>T,c.431G>A,p.R144Q |
| PLSCR2(NM_001199978,phospholipid scramblase 2,297aa) | g.3:146171883G>C,c.608C>G,p.T203R |
| PLSCR2(NM_001199978,phospholipid scramblase 2,297aa) | g.3:146167142C>T,c.715G>A,p.D239N |
| PLSCR2(NM_001199978,phospholipid scramblase 2,297aa) | g.3:146167089T>A,c.768A>T,p.R256S |
| PLSCR1(NM_021105,phospholipid scramblase 1,318aa) | g.3:146251266C>T,c.85G>A,p.A29T |
| PLSCR1(NM_021105,phospholipid scramblase 1,318aa) | g.3:146246559C>T,c.154G>A,p.G52S |