| 基因名 | 突变 |
|---|---|
| PFKFB2(NM_006212,6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2,505aa) | g.1:207235372G>A,c.160G>A,p.V54M |
| PFKFB2(NM_006212,6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2,505aa) | g.1:207235357C>T,c.145C>T,p.R49W |
| PFKFB1(NM_002625,6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1,471aa) | g.X:54986291T>C,c.353A>G,p.N118S |
| PFKFB1(NM_002625,6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1,471aa) | g.X:54978349G>A,c.835C>T,p.R279C |
| PFKFB1(NM_002625,6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1,471aa) | g.X:54975509G>A,c.992C>T,p.A331V |
| PFDN6(NM_001185181,prefoldin subunit 6,129aa) | g.6:33257969C>T,c.83C>T,p.S28L |
| PFDN5(NM_002624,prefoldin subunit 5,154aa) | g.12:53691692G>C,c.266G>C,p.G89A |
| PFDN5(NM_002624,prefoldin subunit 5,154aa) | g.12:53689386T>C,c.35T>C,p.L12P |
| PFDN4(NM_002623,prefoldin subunit 4,134aa) | g.20:52835685G>A,c.401G>A,p.S134N |
| PFDN2(NM_012394,prefoldin subunit 2,154aa) | g.1:161071884C>T,c.242G>A,p.R81Q |
| PFDN2(NM_012394,prefoldin subunit 2,154aa) | g.1:161071861C>T,c.265G>A,p.A89T |
| PFDN1(NM_002622,prefoldin subunit 1,122aa) | g.5:139661097T>G,c.222A>C,p.E74D |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8172506T>G,c.3941T>G,p.F1314C |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8172277G>T,c.3712G>T,p.V1238L |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8172141G>A,c.3673G>A,p.A1225T |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8172127G>A,c.3659G>A,p.R1220Q |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8172033C>T,c.3565C>T,p.R1189W |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8170927G>A,c.3326G>A,p.R1109H |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8170364G>A,c.2986G>A,p.G996R |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8168426C>G,c.2263C>G,p.L755V |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8167600T>C,c.1862T>C,p.L621P |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8167217C>G,c.1754C>G,p.P585R |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8167178G>A,c.1715G>A,p.R572Q |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8166947G>A,c.1622G>A,p.R541H |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8166458T>A,c.1442T>A,p.F481Y |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8166297G>A,c.1396G>A,p.A466T |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8161481G>A,c.1300G>A,p.E434K |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8161178C>T,c.1129C>T,p.R377W |