| 基因名 | 突变 |
|---|---|
| PPIP5K1(NM_001130858,diphosphoinositol pentakisphosphate kinase 1,1433aa) | g.15:43851025C>T,c.3353G>A,p.R1118H |
| PPIP5K1(NM_001130858,diphosphoinositol pentakisphosphate kinase 1,1433aa) | g.15:43831724C>T,c.3443G>A,p.R1148H |
| PPIP5K1(NM_001130858,diphosphoinositol pentakisphosphate kinase 1,1433aa) | g.15:43831689G>A,c.3478C>T,p.R1160C |
| PPIL6(NM_001111298,peptidylprolyl isomerase (cyclophilin)-like 6,337aa) | g.6:109752451T>C,c.329A>G,p.H110R |
| PPIL6(NM_001111298,peptidylprolyl isomerase (cyclophilin)-like 6,337aa) | g.6:109748122G>A,c.559C>T,p.R187C |
| PPIL4(NM_139126,peptidylprolyl isomerase (cyclophilin)-like 4,492aa) | g.6:149862510T>C,c.196A>G,p.I66V |
| PPIL4(NM_139126,peptidylprolyl isomerase (cyclophilin)-like 4,492aa) | g.6:149856759T>C,c.437A>G,p.K146R |
| PPIL3(NM_032472,peptidylprolyl isomerase (cyclophilin)-like 3,165aa) | g.2:201741711T>C,c.302A>G,p.N101S |
| PPIL3(NM_032472,peptidylprolyl isomerase (cyclophilin)-like 3,165aa) | g.2:201736179C>T,c.437G>A,p.R146Q |
| PPIL3(NM_032472,peptidylprolyl isomerase (cyclophilin)-like 3,165aa) | g.2:201736166A>C,c.450T>G,p.D150E |
| PPIL2(NM_014337,peptidylprolyl isomerase (cyclophilin)-like 2,520aa) | g.22:22036780G>A,c.442G>A,p.E148K |
| PPIL2(NM_014337,peptidylprolyl isomerase (cyclophilin)-like 2,520aa) | g.22:22036754A>G,c.416A>G,p.K139R |
| PPIL2(NM_014337,peptidylprolyl isomerase (cyclophilin)-like 2,520aa) | g.22:22024887T>C,c.115T>C,p.F39L |
| PPIL1(NM_016059,peptidylprolyl isomerase (cyclophilin)-like 1,166aa) | g.6:36842541G>A,c.8C>T,p.A3V |
| PPIL1(NM_016059,peptidylprolyl isomerase (cyclophilin)-like 1,166aa) | g.6:36839598C>G,c.107G>C,p.C36S |
| PPIL1(NM_016059,peptidylprolyl isomerase (cyclophilin)-like 1,166aa) | g.6:36823624C>T,c.466G>A,p.D156N |
| PPIH(NM_006347,peptidylprolyl isomerase H (cyclophilin H),177aa) | g.1:43131694C>T,c.380C>T,p.T127I |
| PPIG(NM_004792,peptidylprolyl isomerase G (cyclophilin G),754aa) | g.2:170493863A>G,c.2095A>G,p.N699D |
| PPIG(NM_004792,peptidylprolyl isomerase G (cyclophilin G),754aa) | g.2:170493741C>T,c.1973C>T,p.S658F |
| PPIG(NM_004792,peptidylprolyl isomerase G (cyclophilin G),754aa) | g.2:170493599A>C,c.1831A>C,p.T611P |
| PPIG(NM_004792,peptidylprolyl isomerase G (cyclophilin G),754aa) | g.2:170493368A>G,c.1600A>G,p.K534E |
| PPIG(NM_004792,peptidylprolyl isomerase G (cyclophilin G),754aa) | g.2:170493103T>A,c.1335T>A,p.D445E |
| PPIG(NM_004792,peptidylprolyl isomerase G (cyclophilin G),754aa) | g.2:170493075G>A,c.1307G>A,p.R436K |
| PPIG(NM_004792,peptidylprolyl isomerase G (cyclophilin G),754aa) | g.2:170487312_170487314del,c.576_578del,p.192_193del |
| PPIG(NM_004792,peptidylprolyl isomerase G (cyclophilin G),754aa) | g.2:170441001G>A,c.-70+1G>A,p.5'UTRDonor |
| PPIF(NM_005729,peptidylprolyl isomerase F,207aa) | g.10:81113512G>A,c.538G>A,p.V180I |
| PPIF(NM_005729,peptidylprolyl isomerase F,207aa) | g.10:81111337C>T,c.410C>T,p.P137L |
| PPIF(NM_005729,peptidylprolyl isomerase F,207aa) | g.10:81111267G>A,c.340G>A,p.G114S |