| 基因名 | 突变 |
|---|---|
| TOR1AIP1(NM_001267578,torsin A interacting protein 1,584aa) | g.1:179858444G>A,c.554-1G>A,p.185Acceptor |
| TOR1AIP1(NM_001267578,torsin A interacting protein 1,584aa) | g.1:179853882_179853883insTCA,c.531_532insTCA,p.177_178ins1aa |
| TOR1AIP1(NM_001267578,torsin A interacting protein 1,584aa) | g.1:179852074T>C,c.437T>C,p.M146T |
| TOR1AIP1(NM_001267578,torsin A interacting protein 1,584aa) | g.1:179852017C>T,c.380C>T,p.T127I |
| TOR1AIP1(NM_001267578,torsin A interacting protein 1,584aa) | g.1:179851762C>T,c.125C>T,p.A42V |
| TOR1AIP1(NM_001267578,torsin A interacting protein 1,584aa) | g.1:179851707C>G,c.70C>G,p.P24A |
| TOPORS(NM_005802,topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase,1045aa) | g.9:32550912G>A,c.58C>T,p.P20S |
| TOPORS(NM_005802,topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase,1045aa) | g.9:32550896G>C,c.74C>G,p.S25W |
| TOPORS(NM_005802,topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase,1045aa) | g.9:32544171G>A,c.352C>T,p.R118C |
| TOPORS(NM_005802,topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase,1045aa) | g.9:32543852T>C,c.671A>G,p.D224G |
| TOPORS(NM_005802,topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase,1045aa) | g.9:32543285T>G,c.1238A>C,p.Q413P |
| TOPORS(NM_005802,topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase,1045aa) | g.9:32543226C>T,c.1297G>A,p.V433I |
| TOPORS(NM_005802,topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase,1045aa) | g.9:32542458G>A,c.2065C>T,p.R689C |
| TOPORS(NM_005802,topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase,1045aa) | g.9:32542278T>C,c.2245A>G,p.N749D |
| TOPORS(NM_005802,topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase,1045aa) | g.9:32541998G>T,c.2525C>A,p.T842N |
| TOPORS(NM_005802,topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase,1045aa) | g.9:32541880G>C,c.2643C>G,p.H881Q |
| TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) | g.3:133379950G>A,c.22C>T,p.P8S |
| TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) | g.3:133379913G>T,c.59C>A,p.S20Y |
| TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) | g.3:133374307A>G,c.569T>C,p.I190T |
| TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) | g.3:133374188T>C,c.688A>G,p.M230V |
| TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) | g.3:133371471G>A,c.925C>T,p.R309C |
| TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) | g.3:133368669T>C,c.1208A>G,p.D403G |
| TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) | g.3:133368362T>G,c.1369A>C,p.K457Q |
| TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) | g.3:133356790G>A,c.2450C>T,p.S817L |
| TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) | g.3:133342223C>T,c.3007G>A,p.A1003T |
| TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) | g.3:133342192C>T,c.3038G>A,p.R1013Q |
| TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) | g.3:133341988T>C,c.3125A>G,p.N1042S |
| TOPBP1(NM_007027,topoisomerase (DNA) II binding protein 1,1522aa) | g.3:133339066C>T,c.3304G>A,p.A1102T |