| 基因名 | 突变 |
|---|---|
| PIGF(NM_173074,phosphatidylinositol glycan anchor biosynthesis, class F,206aa) | g.2:46842225G>A,c.79C>T,p.P27S |
| PIGF(NM_173074,phosphatidylinositol glycan anchor biosynthesis, class F,206aa) | g.2:46842119A>G,c.185T>C,p.V62A |
| PIGF(NM_173074,phosphatidylinositol glycan anchor biosynthesis, class F,206aa) | g.2:46842080T>C,c.224A>G,p.H75R |
| PIGF(NM_173074,phosphatidylinositol glycan anchor biosynthesis, class F,206aa) | g.2:46840904G>C,c.249C>G,p.C83W |
| PIGF(NM_173074,phosphatidylinositol glycan anchor biosynthesis, class F,206aa) | g.2:46839434T>C,c.370A>G,p.T124A |
| PIGC(NM_002642,phosphatidylinositol glycan anchor biosynthesis, class C,297aa) | g.1:172411433C>A,c.330G>T,p.K110N |
| PIGC(NM_002642,phosphatidylinositol glycan anchor biosynthesis, class C,297aa) | g.1:172411087G>A,c.676C>T,p.R226W |
| PIGC(NM_002642,phosphatidylinositol glycan anchor biosynthesis, class C,297aa) | g.1:172411078C>T,c.685G>A,p.V229M |
| PIGC(NM_002642,phosphatidylinositol glycan anchor biosynthesis, class C,297aa) | g.1:172410967G>A,c.796C>T,p.P266S |
| PIGB(NM_004855,phosphatidylinositol glycan anchor biosynthesis, class B,554aa) | g.15:55647617A>C,c.1652A>C,p.K551T |
| PIGB(NM_004855,phosphatidylinositol glycan anchor biosynthesis, class B,554aa) | g.15:55647162A>G,c.1504A>G,p.S502G |
| PIGB(NM_004855,phosphatidylinositol glycan anchor biosynthesis, class B,554aa) | g.15:55632944T>G,c.981T>G,p.F327L |
| PIGB(NM_004855,phosphatidylinositol glycan anchor biosynthesis, class B,554aa) | g.15:55632859G>T,c.896G>T,p.W299L |
| PIGB(NM_004855,phosphatidylinositol glycan anchor biosynthesis, class B,554aa) | g.15:55619796T>C,c.485T>C,p.M162T |
| PIGA(NM_002641,phosphatidylinositol glycan anchor biosynthesis, class A,484aa) | g.X:15349998G>A,c.55C>T,p.R19W |
| PIGA(NM_002641,phosphatidylinositol glycan anchor biosynthesis, class A,484aa) | g.X:15339869G>A,c.1214C>T,p.A405V |
| PIGA(NM_002641,phosphatidylinositol glycan anchor biosynthesis, class A,484aa) | g.X:15339786C>T,c.1297G>A,p.V433I |
| PIFO(NM_181643,primary cilia formation,191aa) | g.1:111892775G>C,c.437G>C,p.W146S |
| PIFO(NM_181643,primary cilia formation,191aa) | g.1:111891192C>A,c.313C>A,p.H105N |
| PIFO(NM_181643,primary cilia formation,191aa) | g.1:111891170A>C,c.291A>C,p.K97N |
| PIF1(NM_025049,PIF1 5'-to-3' DNA helicase,641aa) | g.15:65116425G>A,c.110C>T,p.A37V |
| PIF1(NM_025049,PIF1 5'-to-3' DNA helicase,641aa) | g.15:65116390C>A,c.145G>T,p.E49X |
| PIF1(NM_025049,PIF1 5'-to-3' DNA helicase,641aa) | g.15:65116210G>A,c.325C>T,p.P109S |
| PIF1(NM_025049,PIF1 5'-to-3' DNA helicase,641aa) | g.15:65113687A>G,c.850T>C,p.C284R |
| PIF1(NM_025049,PIF1 5'-to-3' DNA helicase,641aa) | g.15:65113380G>A,c.1072C>T,p.R358W |
| PIF1(NM_025049,PIF1 5'-to-3' DNA helicase,641aa) | g.15:65112129C>T,c.1250G>A,p.R417Q |
| PIF1(NM_025049,PIF1 5'-to-3' DNA helicase,641aa) | g.15:65112081G>A,c.1298C>T,p.A433V |
| PIF1(NM_025049,PIF1 5'-to-3' DNA helicase,641aa) | g.15:65112064G>A,c.1315C>T,p.R439W |