| 基因名 | 突变 |
|---|---|
| PDLIM3(NM_014476,PDZ and LIM domain 3,364aa) | g.4:186456560G>A,c.29C>T,p.P10L |
| PDLIM3(NM_014476,PDZ and LIM domain 3,364aa) | g.4:186435443C>T,c.379G>A,p.V127M |
| PDLIM3(NM_014476,PDZ and LIM domain 3,364aa) | g.4:186427735G>A,c.734C>T,p.T245I |
| PDLIM3(NM_014476,PDZ and LIM domain 3,364aa) | g.4:186423617C>T,c.926G>A,p.R309Q |
| PDLIM3(NM_014476,PDZ and LIM domain 3,364aa) | g.4:186423606G>A,c.937C>T,p.R313W |
| PDLIM2(NM_176871,PDZ and LIM domain 2 (mystique),366aa) | g.8:22452115C>T,c.1054C>T,p.R352W |
| PDLIM2(NM_176871,PDZ and LIM domain 2 (mystique),366aa) | g.8:22449181C>T,c.881C>T,p.A294V |
| PDLIM2(NM_176871,PDZ and LIM domain 2 (mystique),366aa) | g.8:22442671C>T,c.457C>T,p.R153C |
| PDLIM2(NM_176871,PDZ and LIM domain 2 (mystique),366aa) | g.8:22442395C>T,c.307C>T,p.R103C |
| PDLIM1(NM_020992,PDZ and LIM domain 1,329aa) | g.10:97028587G>A,c.281C>T,p.T94M |
| PDLIM1(NM_020992,PDZ and LIM domain 1,329aa) | g.10:97023748T>C,c.406A>G,p.T136A |
| PDLIM1(NM_020992,PDZ and LIM domain 1,329aa) | g.10:97023725C>A,c.429G>T,p.Q143H |
| PDLIM1(NM_020992,PDZ and LIM domain 1,329aa) | g.10:97023633G>A,c.521C>T,p.A174V |
| PDLIM1(NM_020992,PDZ and LIM domain 1,329aa) | g.10:97023630T>C,c.524A>G,p.N175S |
| PDLIM1(NM_020992,PDZ and LIM domain 1,329aa) | g.10:96998343T>A,c.785A>T,p.K262I |
| PDLIM1(NM_020992,PDZ and LIM domain 1,329aa) | g.10:96997719G>A,c.953C>T,p.P318L |
| PDK4(NM_002612,pyruvate dehydrogenase kinase, isozyme 4,411aa) | g.7:95225556G>A,c.50C>T,p.A17V |
| PDK4(NM_002612,pyruvate dehydrogenase kinase, isozyme 4,411aa) | g.7:95225551G>T,c.55C>A,p.L19M |
| PDK4(NM_002612,pyruvate dehydrogenase kinase, isozyme 4,411aa) | g.7:95224360A>G,c.247T>C,p.S83P |
| PDK4(NM_002612,pyruvate dehydrogenase kinase, isozyme 4,411aa) | g.7:95222201T>C,c.400A>G,p.M134V |
| PDK2(NM_001199898,pyruvate dehydrogenase kinase, isozyme 2,343aa) | g.17:48184452T>C,c.428T>C,p.M143T |
| PDK2(NM_001199898,pyruvate dehydrogenase kinase, isozyme 2,343aa) | g.17:48184448G>A,c.424G>A,p.D142N |
| PDK1(NM_001278549,pyruvate dehydrogenase kinase, isozyme 1,456aa) | g.2:173427009G>A,c.400G>A,p.A134T |
| PDILT(NM_174924,protein disulfide isomerase-like, testis expressed,584aa) | g.16:20410547C>T,c.76G>A,p.A26T |
| PDILT(NM_174924,protein disulfide isomerase-like, testis expressed,584aa) | g.16:20410421G>A,c.202C>T,p.H68Y |
| PDILT(NM_174924,protein disulfide isomerase-like, testis expressed,584aa) | g.16:20396020G>A,c.356C>T,p.P119L |
| PDILT(NM_174924,protein disulfide isomerase-like, testis expressed,584aa) | g.16:20387497C>T,c.436G>A,p.V146I |
| PDILT(NM_174924,protein disulfide isomerase-like, testis expressed,584aa) | g.16:20387404C>T,c.529G>A,p.V177I |