| 基因名 | 突变 |
|---|---|
| PCNT(NM_006031,pericentrin,3336aa) | g.21:47754588G>A,c.545G>A,p.R182H |
| PCNT(NM_006031,pericentrin,3336aa) | g.21:47754563A>G,c.520A>G,p.I174V |
| PCNT(NM_006031,pericentrin,3336aa) | g.21:47754510A>G,c.467A>G,p.H156R |
| PCNT(NM_006031,pericentrin,3336aa) | g.21:47746378G>C,c.142G>C,p.A48P |
| PCNP(NM_020357,PEST proteolytic signal containing nuclear protein,178aa) | g.3:101298765A>G,c.196A>G,p.T66A |
| PCNP(NM_020357,PEST proteolytic signal containing nuclear protein,178aa) | g.3:101298747G>A,c.178G>A,p.D60N |
| PCNP(NM_020357,PEST proteolytic signal containing nuclear protein,178aa) | g.3:101293089G>T,c.30G>T,p.K10N |
| PC(NM_001040716,pyruvate carboxylase,1178aa) | g.11:66638540C>A,c.616G>T,p.V206L |
| PC(NM_001040716,pyruvate carboxylase,1178aa) | g.11:66620033T>C,c.1702A>G,p.T568A |
| PC(NM_001040716,pyruvate carboxylase,1178aa) | g.11:66619958_66619959insG,c.1776_1777insC,p.592fs |
| PC(NM_001040716,pyruvate carboxylase,1178aa) | g.11:66617502G>A,c.2804C>T,p.A935V |
| PC(NM_001040716,pyruvate carboxylase,1178aa) | g.11:66617431_66617432insC,c.2874_2875insG,p.958fs |
| PC(NM_001040716,pyruvate carboxylase,1178aa) | g.11:66617416G>A,c.2890C>T,p.R964C |
| PC(NM_001040716,pyruvate carboxylase,1178aa) | g.11:66617239C>T,c.2990G>A,p.R997Q |
| PC(NM_001040716,pyruvate carboxylase,1178aa) | g.11:66617162A>G,c.3067T>C,p.F1023L |
| PC(NM_001040716,pyruvate carboxylase,1178aa) | g.11:66616819G>A,c.3170C>T,p.T1057M |
| PC(NM_001040716,pyruvate carboxylase,1178aa) | g.11:66616472C>A,c.3435G>T,p.M1145I |
| PCMTD2(NM_018257,protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2,361aa) | g.20:62904703G>A,c.836G>A,p.R279Q |
| PCMTD2(NM_018257,protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2,361aa) | g.20:62899244C>T,c.587C>T,p.T196I |
| PCMTD1(NM_052937,protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1,357aa) | g.8:52733242C>T,c.743G>A,p.R248H |
| PCMTD1(NM_052937,protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1,357aa) | g.8:52733231G>A,c.754C>T,p.R252X |
| PCMTD1(NM_052937,protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1,357aa) | g.8:52733228G>A,c.757C>T,p.R253C |
| PCMTD1(NM_052937,protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1,357aa) | g.8:52733128T>G,c.857A>C,p.N286T |
| PCMTD1(NM_052937,protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1,357aa) | g.8:52733079A>C,c.906T>G,p.S302R |
| PCMTD1(NM_052937,protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1,357aa) | g.8:52733054C>T,c.931G>A,p.D311N |
| PCMTD1(NM_052937,protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1,357aa) | g.8:52733050T>A,c.935A>T,p.N312I |
| PCMTD1(NM_052937,protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1,357aa) | g.8:52733029T>C,c.956A>G,p.D319G |
| PCMTD1(NM_052937,protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1,357aa) | g.8:52733023T>C,c.962A>G,p.N321S |