| 基因名 | 突变 |
|---|---|
| PIGQ(NM_004204,phosphatidylinositol glycan anchor biosynthesis, class Q,581aa) | g.16:632253G>A,c.1537G>A,p.V513M |
| PIGQ(NM_004204,phosphatidylinositol glycan anchor biosynthesis, class Q,581aa) | g.16:628832G>A,c.1117G>A,p.V373M |
| PIGQ(NM_004204,phosphatidylinositol glycan anchor biosynthesis, class Q,581aa) | g.16:626237C>G,c.925C>G,p.L309V |
| PIGQ(NM_004204,phosphatidylinositol glycan anchor biosynthesis, class Q,581aa) | g.16:625940G>A,c.791G>A,p.R264Q |
| PIGQ(NM_004204,phosphatidylinositol glycan anchor biosynthesis, class Q,581aa) | g.16:624694G>A,c.620G>A,p.R207Q |
| PIGQ(NM_004204,phosphatidylinositol glycan anchor biosynthesis, class Q,581aa) | g.16:624547G>A,c.473G>A,p.S158N |
| PIGQ(NM_004204,phosphatidylinositol glycan anchor biosynthesis, class Q,581aa) | g.16:624424C>T,c.350C>T,p.A117V |
| PIGQ(NM_004204,phosphatidylinositol glycan anchor biosynthesis, class Q,581aa) | g.16:624409G>A,c.335G>A,p.R112Q |
| PIGQ(NM_004204,phosphatidylinositol glycan anchor biosynthesis, class Q,581aa) | g.16:624403C>G,c.329C>G,p.T110S |
| PIGQ(NM_004204,phosphatidylinositol glycan anchor biosynthesis, class Q,581aa) | g.16:624396G>A,c.322G>A,p.E108K |
| PIGQ(NM_004204,phosphatidylinositol glycan anchor biosynthesis, class Q,581aa) | g.16:624165G>A,c.91G>A,p.V31M |
| PIGQ(NM_004204,phosphatidylinositol glycan anchor biosynthesis, class Q,581aa) | g.16:624115C>T,c.41C>T,p.T14M |
| PIGQ(NM_004204,phosphatidylinositol glycan anchor biosynthesis, class Q,581aa) | g.16:624114A>G,c.40A>G,p.T14A |
| PIGP(NM_153681,phosphatidylinositol glycan anchor biosynthesis, class P,158aa) | g.21:38444881G>A,c.7C>T,p.P3S |
| PIGP(NM_153681,phosphatidylinositol glycan anchor biosynthesis, class P,158aa) | g.21:38444863C>T,c.25G>A,p.A9T |
| PIGP(NM_153681,phosphatidylinositol glycan anchor biosynthesis, class P,158aa) | g.21:38439597C>T,c.311G>A,p.S104N |
| PIGP(NM_153681,phosphatidylinositol glycan anchor biosynthesis, class P,158aa) | g.21:38438006T>C,c.353A>G,p.Y118C |
| PIGP(NM_153681,phosphatidylinositol glycan anchor biosynthesis, class P,158aa) | g.21:38437980A>G,c.379T>C,p.Y127H |
| PIGP(NM_153681,phosphatidylinositol glycan anchor biosynthesis, class P,158aa) | g.21:38437951T>G,c.408A>C,p.R136S |
| PIGO(NM_032634,phosphatidylinositol glycan anchor biosynthesis, class O,1089aa) | g.9:35095102G>T,c.461C>A,p.A154D |
| PIGO(NM_032634,phosphatidylinositol glycan anchor biosynthesis, class O,1089aa) | g.9:35093077G>A,c.1069C>T,p.H357Y |
| PIGO(NM_032634,phosphatidylinositol glycan anchor biosynthesis, class O,1089aa) | g.9:35092166G>A,c.1718C>T,p.T573I |
| PIGO(NM_032634,phosphatidylinositol glycan anchor biosynthesis, class O,1089aa) | g.9:35092073C>T,c.1811G>A,p.R604H |
| PIGO(NM_032634,phosphatidylinositol glycan anchor biosynthesis, class O,1089aa) | g.9:35091893C>T,c.1991G>A,p.R664Q |
| PIGO(NM_032634,phosphatidylinositol glycan anchor biosynthesis, class O,1089aa) | g.9:35091686C>T,c.2198G>A,p.R733Q |
| PIGO(NM_032634,phosphatidylinositol glycan anchor biosynthesis, class O,1089aa) | g.9:35091549C>G,c.2335G>C,p.V779L |
| PIGN(NM_176787,phosphatidylinositol glycan anchor biosynthesis, class N,931aa) | g.18:59828511A>T,c.76T>A,p.S26T |
| PIGN(NM_176787,phosphatidylinositol glycan anchor biosynthesis, class N,931aa) | g.18:59828448C>G,c.139G>C,p.V47L |