| 基因名 | 突变 |
|---|---|
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56138747G>A,c.925G>A,p.G309R |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56138738G>A,c.916G>A,p.E306K |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56138648G>A,c.826G>A,p.E276K |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56138621A>G,c.799A>G,p.I267V |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56138230C>T,c.757C>T,p.R253W |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56138147G>A,c.674G>A,p.R225H |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56137901G>A,c.556G>A,p.D186N |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56137895G>C,c.550G>C,p.V184L |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56137758C>T,c.413C>T,p.T138I |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56136631G>A,c.164G>A,p.R55Q |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56136510G>T,c.43G>T,p.V15F |
| PCK1(NM_002591,phosphoenolpyruvate carboxykinase 1 (soluble),622aa) | g.20:56136474C>T,c.7C>T,p.P3S |
| PCIF1(NM_022104,PDX1 C-terminal inhibiting factor 1,704aa) | g.20:44576357G>A,c.2078G>A,p.R693H |
| PCIF1(NM_022104,PDX1 C-terminal inhibiting factor 1,704aa) | g.20:44569202G>A,c.338G>A,p.R113Q |
| PCIF1(NM_022104,PDX1 C-terminal inhibiting factor 1,704aa) | g.20:44567662C>G,c.24C>G,p.S8R |
| PCID2(NM_001258213,PCI domain containing 2,397aa) | g.13:113835505C>T,c.719G>A,p.R240H |
| PCID2(NM_001258213,PCI domain containing 2,397aa) | g.13:113833327C>T,c.1057G>A,p.V353M |
| PCGF6(NM_001011663,polycomb group ring finger 6,350aa) | g.10:105110742_105110743insAGGCGG,c.81_82insCCGCCT,p.27_28ins2aa |
| PCGF6(NM_001011663,polycomb group ring finger 6,350aa) | g.10:105110740_105110741insGGAGGC,c.83_84insGCCTCC,p.28ins2aa |
| PCGF6(NM_001011663,polycomb group ring finger 6,350aa) | g.10:105104846del,c.717del,p.239fs |
| PCGF6(NM_001011663,polycomb group ring finger 6,350aa) | g.10:105073968C>T,c.971G>A,p.R324H |
| PCGF5(NM_032373,polycomb group ring finger 5,256aa) | g.10:93011073C>T,c.350C>T,p.P117L |
| PCGF3(NM_006315,polycomb group ring finger 3,242aa) | g.4:737321A>C,c.322A>C,p.I108L |
| PCGF3(NM_006315,polycomb group ring finger 3,242aa) | g.4:727522G>A,c.53G>A,p.R18H |
| PCGF2(NM_007144,polycomb group ring finger 2,344aa) | g.17:36891853T>A,c.658A>T,p.N220Y |
| PCGF2(NM_007144,polycomb group ring finger 2,344aa) | g.17:36891805G>A,c.706C>T,p.L236F |
| PCGF2(NM_007144,polycomb group ring finger 2,344aa) | g.17:36891790C>T,c.721G>A,p.V241M |
| PCGF1(NM_032673,polycomb group ring finger 1,259aa) | g.2:74732492T>G,c.706A>C,p.I236L |