| 基因名 | 突变 |
|---|---|
| PIH1D1(NM_017916,PIH1 domain containing 1,290aa) | g.19:49949652G>A,c.860C>T,p.P287L |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196678806C>T,c.97G>A,p.A33T |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196678748G>A,c.155C>T,p.P52L |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196675533C>T,c.235G>A,p.A79T |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196675424G>A,c.344C>T,p.P115L |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196675397G>A,c.371C>T,p.A124V |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196675319G>A,c.449C>T,p.P150L |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196675304C>T,c.464G>A,p.R155H |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196675148G>A,c.620C>T,p.P207L |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196675038G>A,c.730C>T,p.R244C |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196674972C>T,c.796G>A,p.A266T |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196674944G>A,c.824C>T,p.T275M |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196674918C>T,c.850G>A,p.A284T |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196674904G>T,c.864C>A,p.N288K |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196674749C>T,c.1019G>A,p.R340Q |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196674518A>G,c.1250T>C,p.V417A |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196674407G>A,c.1361C>T,p.T454I |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196674367C>G,c.1401G>C,p.M467I |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196674360G>A,c.1408C>T,p.R470W |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196674360del,c.1408del,p.470fs |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196674359C>T,c.1409G>A,p.R470Q |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196674307C>T,c.1461G>A,p.M487I |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196674305C>A,c.1463G>T,p.G488V |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196674237C>T,c.1531G>A,p.A511T |
| PIGZ(NM_025163,phosphatidylinositol glycan anchor biosynthesis, class Z,579aa) | g.3:196674182C>T,c.1586G>A,p.R529H |
| PIGY(NM_001042616,phosphatidylinositol glycan anchor biosynthesis, class Y,71aa) | g.4:89442924G>C,c.17C>G,p.P6R |
| PIGY(NM_001042616,phosphatidylinositol glycan anchor biosynthesis, class Y,71aa) | g.4:89442870G>T,c.71C>A,p.A24D |
| PIGX(NM_001166304,phosphatidylinositol glycan anchor biosynthesis, class X,276aa) | g.3:196454939C>T,c.464C>T,p.P155L |