| 基因名 | 突变 |
|---|---|
| PIGX(NM_001166304,phosphatidylinositol glycan anchor biosynthesis, class X,276aa) | g.3:196449408G>A,c.299G>A,p.R100Q |
| PIGX(NM_001166304,phosphatidylinositol glycan anchor biosynthesis, class X,276aa) | g.3:196449372G>A,c.263G>A,p.G88E |
| PIGX(NM_001166304,phosphatidylinositol glycan anchor biosynthesis, class X,276aa) | g.3:196439449C>T,c.46C>T,p.L16F |
| PIGW(NM_178517,phosphatidylinositol glycan anchor biosynthesis, class W,504aa) | g.17:34893655C>G,c.705C>G,p.H235Q |
| PIGW(NM_178517,phosphatidylinositol glycan anchor biosynthesis, class W,504aa) | g.17:34893341T>A,c.391T>A,p.C131S |
| PIGW(NM_178517,phosphatidylinositol glycan anchor biosynthesis, class W,504aa) | g.17:34893326A>G,c.376A>G,p.N126D |
| PIGW(NM_178517,phosphatidylinositol glycan anchor biosynthesis, class W,504aa) | g.17:34893203G>A,c.253G>A,p.G85S |
| PIGV(NM_001202554,phosphatidylinositol glycan anchor biosynthesis, class V,493aa) | g.1:27124130C>T,c.1277C>T,p.P426L |
| PIGV(NM_001202554,phosphatidylinositol glycan anchor biosynthesis, class V,493aa) | g.1:27121547C>A,c.1022C>A,p.A341E |
| PIGV(NM_001202554,phosphatidylinositol glycan anchor biosynthesis, class V,493aa) | g.1:27121498G>A,c.973G>A,p.V325M |
| PIGV(NM_001202554,phosphatidylinositol glycan anchor biosynthesis, class V,493aa) | g.1:27121256C>T,c.731C>T,p.S244L |
| PIGV(NM_001202554,phosphatidylinositol glycan anchor biosynthesis, class V,493aa) | g.1:27120998G>A,c.473G>A,p.S158N |
| PIGV(NM_001202554,phosphatidylinositol glycan anchor biosynthesis, class V,493aa) | g.1:27120964C>T,c.439C>T,p.Q147X |
| PIGV(NM_001202554,phosphatidylinositol glycan anchor biosynthesis, class V,493aa) | g.1:27120953A>G,c.428A>G,p.H143R |
| PIGV(NM_001202554,phosphatidylinositol glycan anchor biosynthesis, class V,493aa) | g.1:27120841C>T,c.316C>T,p.R106W |
| PIGV(NM_001202554,phosphatidylinositol glycan anchor biosynthesis, class V,493aa) | g.1:27120797_27120798insC,c.272_273insC,p.91fs |
| PIGV(NM_001202554,phosphatidylinositol glycan anchor biosynthesis, class V,493aa) | g.1:27120659G>A,c.134G>A,p.R45H |
| PIGV(NM_001202554,phosphatidylinositol glycan anchor biosynthesis, class V,493aa) | g.1:27120626C>T,c.101C>T,p.P34L |
| PIGU(NM_080476,phosphatidylinositol glycan anchor biosynthesis, class U,435aa) | g.20:33245022A>C,c.157T>G,p.L53V |
| PIGU(NM_080476,phosphatidylinositol glycan anchor biosynthesis, class U,435aa) | g.20:33225755T>C,c.353A>G,p.Q118R |
| PIGU(NM_080476,phosphatidylinositol glycan anchor biosynthesis, class U,435aa) | g.20:33169405C>T,c.998G>A,p.G333E |
| PIGU(NM_080476,phosphatidylinositol glycan anchor biosynthesis, class U,435aa) | g.20:33169373C>T,c.1030G>A,p.V344M |
| PIGT(NM_015937,phosphatidylinositol glycan anchor biosynthesis, class T,578aa) | g.20:44053152G>A,c.1417G>A,p.A473T |
| PIGT(NM_015937,phosphatidylinositol glycan anchor biosynthesis, class T,578aa) | g.20:44052964G>A,c.1343G>A,p.R448Q |
| PIGT(NM_015937,phosphatidylinositol glycan anchor biosynthesis, class T,578aa) | g.20:44052886G>A,c.1265G>A,p.R422Q |
| PIGT(NM_015937,phosphatidylinositol glycan anchor biosynthesis, class T,578aa) | g.20:44048972A>C,c.770A>C,p.D257A |
| PIGT(NM_015937,phosphatidylinositol glycan anchor biosynthesis, class T,578aa) | g.20:44047974G>A,c.533G>A,p.R178Q |
| PIGT(NM_015937,phosphatidylinositol glycan anchor biosynthesis, class T,578aa) | g.20:44047493G>T,c.367G>T,p.V123L |