| 基因名 | 突变 |
|---|---|
| TOR4A(NM_017723,torsin family 4, member A,423aa) | g.9:140173316A>G,c.175A>G,p.R59G |
| TOR3A(NM_022371,torsin family 3, member A,397aa) | g.1:179064202G>A,c.1043G>A,p.R348Q |
| TOR3A(NM_022371,torsin family 3, member A,397aa) | g.1:179064123C>T,c.964C>T,p.R322C |
| TOR3A(NM_022371,torsin family 3, member A,397aa) | g.1:179063302C>T,c.893C>T,p.T298M |
| TOR3A(NM_022371,torsin family 3, member A,397aa) | g.1:179063231T>A,c.822T>A,p.N274K |
| TOR3A(NM_022371,torsin family 3, member A,397aa) | g.1:179054850C>T,c.461C>T,p.T154M |
| TOR3A(NM_022371,torsin family 3, member A,397aa) | g.1:179051508C>T,c.245C>T,p.A82V |
| TOR3A(NM_022371,torsin family 3, member A,397aa) | g.1:179051300T>C,c.37T>C,p.F13L |
| TOR2A(NM_130459,torsin family 2, member A,253aa) | g.9:130495633C>G,c.624G>C,p.W208C |
| TOR1B(NM_014506,torsin family 1, member B (torsin B),336aa) | g.9:132569638C>G,c.637C>G,p.L213V |
| TOR1B(NM_014506,torsin family 1, member B (torsin B),336aa) | g.9:132569510C>T,c.509C>T,p.A170V |
| TOR1B(NM_014506,torsin family 1, member B (torsin B),336aa) | g.9:132566551T>G,c.399T>G,p.S133R |
| TOR1A(NM_000113,torsin family 1, member A (torsin A),332aa) | g.9:132586339C>G,c.26G>C,p.G9A |
| TOR1A(NM_000113,torsin family 1, member A (torsin A),332aa) | g.9:132581156G>A,c.488C>T,p.A163V |
| TOR1A(NM_000113,torsin family 1, member A (torsin A),332aa) | g.9:132580901C>G,c.646G>C,p.D216H |
| TOR1A(NM_000113,torsin family 1, member A (torsin A),332aa) | g.9:132576481A>C,c.769T>G,p.L257V |
| TOR1A(NM_000113,torsin family 1, member A (torsin A),332aa) | g.9:132576259C>T,c.991G>A,p.D331N |
| TOR1AIP2(NM_001199260,torsin A interacting protein 2,470aa) | g.1:179820453G>A,c.80C>T,p.A27V |
| TOR1AIP2(NM_001199260,torsin A interacting protein 2,470aa) | g.1:179820394A>G,c.139T>C,p.C47R |
| TOR1AIP2(NM_001199260,torsin A interacting protein 2,470aa) | g.1:179820016C>T,c.517G>A,p.G173S |
| TOR1AIP2(NM_001199260,torsin A interacting protein 2,470aa) | g.1:179815787G>A,c.832C>T,p.R278W |
| TOR1AIP2(NM_001199260,torsin A interacting protein 2,470aa) | g.1:179815676C>T,c.943G>A,p.V315I |
| TOR1AIP2(NM_001199260,torsin A interacting protein 2,470aa) | g.1:179815307T>A,c.1312A>T,p.M438L |
| TOR1AIP1(NM_001267578,torsin A interacting protein 1,584aa) | g.1:179887078G>A,c.1459G>A,p.A487T |
| TOR1AIP1(NM_001267578,torsin A interacting protein 1,584aa) | g.1:179886769G>A,c.1150G>A,p.D384N |
| TOR1AIP1(NM_001267578,torsin A interacting protein 1,584aa) | g.1:179883190G>A,c.967+1G>A,p.323Donor |
| TOR1AIP1(NM_001267578,torsin A interacting protein 1,584aa) | g.1:179877780A>C,c.882A>C,p.Q294H |
| TOR1AIP1(NM_001267578,torsin A interacting protein 1,584aa) | g.1:179876988C>G,c.830C>G,p.P277R |