| 基因名 | 突变 |
|---|---|
| TMEM43(NM_024334,transmembrane protein 43,400aa) | g.3:14175262T>C,c.536T>C,p.M179T |
| TMEM43(NM_024334,transmembrane protein 43,400aa) | g.3:14174427A>T,c.504A>T,p.K168N |
| TMEM43(NM_024334,transmembrane protein 43,400aa) | g.3:14173105T>C,c.323T>C,p.V108A |
| TMEM43(NM_024334,transmembrane protein 43,400aa) | g.3:14172424G>A,c.265G>A,p.V89M |
| TMEM43(NM_024334,transmembrane protein 43,400aa) | g.3:14170981C>T,c.82C>T,p.R28W |
| TMEM43(NM_024334,transmembrane protein 43,400aa) | g.3:14170930C>G,c.31C>G,p.R11G |
| TMEM42(NM_144638,transmembrane protein 42,159aa) | g.3:44906598A>T,c.406A>T,p.I136F |
| TMEM42(NM_144638,transmembrane protein 42,159aa) | g.3:44905782A>G,c.286A>G,p.M96V |
| TMEM41B(NM_015012,transmembrane protein 41B,291aa) | g.11:9335909G>T,c.80C>A,p.T27K |
| TMEM41B(NM_015012,transmembrane protein 41B,291aa) | g.11:9321173A>G,c.197T>C,p.F66S |
| TMEM41B(NM_015012,transmembrane protein 41B,291aa) | g.11:9305051T>C,c.796A>G,p.I266V |
| TMEM41A(NM_080652,transmembrane protein 41A,264aa) | g.3:185214740T>C,c.149A>G,p.E50G |
| TMEM41A(NM_080652,transmembrane protein 41A,264aa) | g.3:185212411C>G,c.574G>C,p.G192R |
| TMEM41A(NM_080652,transmembrane protein 41A,264aa) | g.3:185209534A>G,c.586T>C,p.Y196H |
| TMEM41A(NM_080652,transmembrane protein 41A,264aa) | g.3:185209416G>A,c.704C>T,p.P235L |
| TMEM41A(NM_080652,transmembrane protein 41A,264aa) | g.3:185209413C>T,c.707G>A,p.G236E |
| TMEM40(NM_018306,transmembrane protein 40,233aa) | g.3:12785444G>A,c.256C>T,p.R86X |
| TMEM39B(NM_018056,transmembrane protein 39B,492aa) | g.1:32568270C>T,c.1475C>T,p.S492F |
| TMEM39B(NM_018056,transmembrane protein 39B,492aa) | g.1:32560427C>G,c.970C>G,p.L324V |
| TMEM39B(NM_018056,transmembrane protein 39B,492aa) | g.1:32560415T>C,c.958T>C,p.C320R |
| TMEM39B(NM_018056,transmembrane protein 39B,492aa) | g.1:32557419C>T,c.734C>T,p.T245M |
| TMEM39B(NM_018056,transmembrane protein 39B,492aa) | g.1:32557362G>A,c.677G>A,p.R226Q |
| TMEM39B(NM_018056,transmembrane protein 39B,492aa) | g.1:32542796G>A,c.467G>A,p.R156H |
| TMEM39A(NM_018266,transmembrane protein 39A,488aa) | g.3:119155746G>A,c.1004C>T,p.T335M |
| TMEM39A(NM_018266,transmembrane protein 39A,488aa) | g.3:119150836C>T,c.1459G>A,p.A487T |
| TMEM38B(NM_018112,transmembrane protein 38B,291aa) | g.9:108536284G>A,c.799G>A,p.V267I |
| TMEM38B(NM_018112,transmembrane protein 38B,291aa) | g.9:108536246G>C,c.761G>C,p.C254S |
| TMEM38B(NM_018112,transmembrane protein 38B,291aa) | g.9:108536147T>C,c.662T>C,p.I221T |