| 基因名 | 突变 |
|---|---|
| PON2(NM_000305,paraoxonase 2,354aa) | g.7:95053880G>A,c.92C>T,p.S31F |
| PON2(NM_000305,paraoxonase 2,354aa) | g.7:95041016G>C,c.443C>G,p.A148G |
| PON2(NM_000305,paraoxonase 2,354aa) | g.7:95039394C>G,c.514G>C,p.V172L |
| PON2(NM_000305,paraoxonase 2,354aa) | g.7:95039231T>C,c.677A>G,p.N226S |
| PON2(NM_000305,paraoxonase 2,354aa) | g.7:95035436A>G,c.901T>C,p.S301P |
| PON2(NM_000305,paraoxonase 2,354aa) | g.7:95034775G>C,c.932C>G,p.S311C |
| PON1(NM_000446,paraoxonase 1,355aa) | g.7:94953771G>A,c.17C>T,p.A6V |
| PON1(NM_000446,paraoxonase 1,355aa) | g.7:94953733T>C,c.55A>G,p.N19D |
| PON1(NM_000446,paraoxonase 1,355aa) | g.7:94947686G>A,c.94C>T,p.R32X |
| PON1(NM_000446,paraoxonase 1,355aa) | g.7:94947661G>A,c.119C>T,p.P40L |
| PON1(NM_000446,paraoxonase 1,355aa) | g.7:94946084A>T,c.163T>A,p.L55M |
| PON1(NM_000446,paraoxonase 1,355aa) | g.7:94940880A>C,c.380T>G,p.M127R |
| PON1(NM_000446,paraoxonase 1,355aa) | g.7:94940879C>A,c.381G>T,p.M127I |
| PON1(NM_000446,paraoxonase 1,355aa) | g.7:94940782T>C,c.478A>G,p.R160G |
| PON1(NM_000446,paraoxonase 1,355aa) | g.7:94937446T>C,c.575A>G,p.Q192R |
| PON1(NM_000446,paraoxonase 1,355aa) | g.7:94937419G>A,c.602C>T,p.A201V |
| PON1(NM_000446,paraoxonase 1,355aa) | g.7:94931551A>G,c.875T>C,p.F292S |
| PON1(NM_000446,paraoxonase 1,355aa) | g.7:94928305T>C,c.1019A>G,p.K340R |
| POMZP3(NM_012230,POM121 and ZP3 fusion,187aa) | g.7:76254896_76254898del,c.168_170del,p.56_57del |
| POMZP3(NM_012230,POM121 and ZP3 fusion,187aa) | g.7:76240888A>G,c.458T>C,p.L153P |
| POMZP3(NM_012230,POM121 and ZP3 fusion,187aa) | g.7:76240877A>T,c.469T>A,p.C157S |
| POMZP3(NM_012230,POM121 and ZP3 fusion,187aa) | g.7:76240819C>T,c.527G>A,p.R176H |
| POMZP3(NM_012230,POM121 and ZP3 fusion,187aa) | g.7:76240814C>T,c.532G>A,p.V178M |
| POMZP3(NM_012230,POM121 and ZP3 fusion,187aa) | g.7:76240786del,c.560del,p.187fs |
| POMT2(NM_013382,protein-O-mannosyltransferase 2,750aa) | g.14:77786864G>T,c.161C>A,p.A54E |
| POMT2(NM_013382,protein-O-mannosyltransferase 2,750aa) | g.14:77786793C>G,c.232G>C,p.E78Q |
| POMT2(NM_013382,protein-O-mannosyltransferase 2,750aa) | g.14:77769205A>G,c.629T>C,p.M210T |
| POMT2(NM_013382,protein-O-mannosyltransferase 2,750aa) | g.14:77769182C>T,c.652G>A,p.D218N |