| 基因名 | 突变 |
|---|---|
| TOX(NM_014729,thymocyte selection-associated high mobility group box,526aa) | g.8:59728090G>A,c.1199C>T,p.P400L |
| TOX(NM_014729,thymocyte selection-associated high mobility group box,526aa) | g.8:59728015G>A,c.1274C>T,p.P425L |
| TOX(NM_014729,thymocyte selection-associated high mobility group box,526aa) | g.8:59727976G>A,c.1313C>T,p.P438L |
| TOX4(NM_014828,TOX high mobility group box family member 4,621aa) | g.14:21961285C>A,c.1510C>A,p.Q504K |
| TOX4(NM_014828,TOX high mobility group box family member 4,621aa) | g.14:21960731T>C,c.956T>C,p.M319T |
| TOX4(NM_014828,TOX high mobility group box family member 4,621aa) | g.14:21956945G>A,c.515G>A,p.R172H |
| TOX3(NM_001146188,TOX high mobility group box family member 3,571aa) | g.16:52553373G>A,c.20C>T,p.S7L |
| TOX3(NM_001146188,TOX high mobility group box family member 3,571aa) | g.16:52497872C>T,c.367G>A,p.V123M |
| TOX3(NM_001146188,TOX high mobility group box family member 3,571aa) | g.16:52484376G>A,c.476C>T,p.A159V |
| TOX3(NM_001146188,TOX high mobility group box family member 3,571aa) | g.16:52473564G>A,c.1289C>T,p.S430L |
| TOX3(NM_001146188,TOX high mobility group box family member 3,571aa) | g.16:52473331G>A,c.1522C>T,p.R508C |
| TOX2(NM_032883,TOX high mobility group box family member 2,464aa) | g.20:42695377C>T,c.1238C>T,p.P413L |
| TOX2(NM_032883,TOX high mobility group box family member 2,464aa) | g.20:42694634G>A,c.1117G>A,p.A373T |
| TOX2(NM_032883,TOX high mobility group box family member 2,464aa) | g.20:42694619C>T,c.1102C>T,p.P368S |
| TOX2(NM_032883,TOX high mobility group box family member 2,464aa) | g.20:42694558_42694559insCCG,c.1041_1042insCCG,p.347_348ins1aa |
| TOX2(NM_032883,TOX high mobility group box family member 2,464aa) | g.20:42680088G>C,c.428G>C,p.S143T |
| TOX2(NM_032883,TOX high mobility group box family member 2,464aa) | g.20:42680082G>A,c.422G>A,p.R141Q |
| TOX2(NM_032883,TOX high mobility group box family member 2,464aa) | g.20:42679992G>A,c.332G>A,p.R111Q |
| TOX2(NM_032883,TOX high mobility group box family member 2,464aa) | g.20:42679955A>G,c.295A>G,p.M99V |
| TOX2(NM_032883,TOX high mobility group box family member 2,464aa) | g.20:42635391C>A,c.244C>A,p.L82I |
| TOX2(NM_032883,TOX high mobility group box family member 2,464aa) | g.20:42635313G>A,c.166G>A,p.G56S |
| TOX2(NM_032883,TOX high mobility group box family member 2,464aa) | g.20:42635227_42635228insC,c.80_81insC,p.27fs |
| TOR4A(NM_017723,torsin family 4, member A,423aa) | g.9:140174327G>A,c.1186G>A,p.A396T |
| TOR4A(NM_017723,torsin family 4, member A,423aa) | g.9:140174307C>A,c.1166C>A,p.A389D |
| TOR4A(NM_017723,torsin family 4, member A,423aa) | g.9:140174165G>A,c.1024G>A,p.A342T |
| TOR4A(NM_017723,torsin family 4, member A,423aa) | g.9:140174118T>G,c.977T>G,p.F326C |
| TOR4A(NM_017723,torsin family 4, member A,423aa) | g.9:140173454A>G,c.313A>G,p.T105A |
| TOR4A(NM_017723,torsin family 4, member A,423aa) | g.9:140173320C>A,c.179C>A,p.P60Q |