| 基因名 | 突变 |
|---|---|
| PCMTD1(NM_052937,protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1,357aa) | g.8:52733003C>T,c.982G>A,p.E328K |
| PCMTD1(NM_052937,protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1,357aa) | g.8:52732981C>G,c.1004G>C,p.R335T |
| PCMTD1(NM_052937,protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1,357aa) | g.8:52732961G>T,c.1024C>A,p.P342T |
| PCMTD1(NM_052937,protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1,357aa) | g.8:52732961G>A,c.1024C>T,p.P342S |
| PCMT1(NM_005389,protein-L-isoaspartate (D-aspartate) O-methyltransferase,285aa) | g.6:150114761A>G,c.548A>G,p.K183R |
| PCMT1(NM_005389,protein-L-isoaspartate (D-aspartate) O-methyltransferase,285aa) | g.6:150114745G>A,c.532G>A,p.V178I |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17871537C>T,c.5576C>T,p.T1859I |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17868817A>C,c.5292A>C,p.R1764S |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17867185A>T,c.5092A>T,p.I1698L |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17851119del,c.4818del,p.1606fs |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17849147C>T,c.4628C>T,p.T1543I |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17838246T>A,c.4090T>A,p.S1364T |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17830005G>A,c.3752G>A,p.R1251H |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17830004C>T,c.3751C>T,p.R1251C |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17829941G>C,c.3688G>C,p.V1230L |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17827200A>G,c.3527A>G,p.Y1176C |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17827193A>G,c.3520A>G,p.T1174A |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17824658A>C,c.3391A>C,p.N1131H |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17824641A>G,c.3374A>G,p.N1125S |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17823611G>A,c.2959G>A,p.V987M |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17822163G>A,c.2741G>A,p.R914Q |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17820758G>T,c.2612G>T,p.G871V |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17817650A>T,c.2168A>T,p.D723V |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17817635A>G,c.2153A>G,p.N718S |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17817553G>T,c.2071G>T,p.A691S |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17815283A>G,c.2039A>G,p.Q680R |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17815237G>A,c.1993G>A,p.A665T |
| PCM1(NM_006197,pericentriolar material 1,2024aa) | g.8:17815082T>G,c.1838T>G,p.I613S |