| 基因名 | 突变 |
|---|---|
| TMEM53(NM_024587,transmembrane protein 53,277aa) | g.1:45140038G>A,c.26C>T,p.T9I |
| TMEM53(NM_024587,transmembrane protein 53,277aa) | g.1:45120665G>A,c.400C>T,p.R134C |
| TMEM53(NM_024587,transmembrane protein 53,277aa) | g.1:45120664C>T,c.401G>A,p.R134H |
| TMEM53(NM_024587,transmembrane protein 53,277aa) | g.1:45120662G>C,c.403C>G,p.L135V |
| TMEM53(NM_024587,transmembrane protein 53,277aa) | g.1:45120347C>T,c.718G>A,p.V240I |
| TMEM52(NM_178545,transmembrane protein 52,209aa) | g.1:1849746C>T,c.295G>A,p.D99N |
| TMEM52(NM_178545,transmembrane protein 52,209aa) | g.1:1849530T>C,c.421A>G,p.M141V |
| TMEM52(NM_178545,transmembrane protein 52,209aa) | g.1:1849529A>G,c.422T>C,p.M141T |
| TMEM52B(NM_153022,transmembrane protein 52B,163aa) | g.12:10342716C>T,c.469C>T,p.R157X |
| TMEM52B(NM_153022,transmembrane protein 52B,163aa) | g.12:10342639T>C,c.392T>C,p.M131T |
| TMEM52B(NM_153022,transmembrane protein 52B,163aa) | g.12:10342557T>A,c.310T>A,p.S104T |
| TMEM52B(NM_153022,transmembrane protein 52B,163aa) | g.12:10339096G>A,c.155G>A,p.R52H |
| TMEM52B(NM_153022,transmembrane protein 52B,163aa) | g.12:10339095C>T,c.154C>T,p.R52C |
| TMEM52B(NM_153022,transmembrane protein 52B,163aa) | g.12:10332198G>T,c.9G>T,p.W3C |
| TMEM52B(NM_153022,transmembrane protein 52B,163aa) | g.12:10332197G>T,c.8G>T,p.W3L |
| TMEM51(NM_001136216,transmembrane protein 51,253aa) | g.1:15546219G>A,c.742G>A,p.D248N |
| TMEM51(NM_001136216,transmembrane protein 51,253aa) | g.1:15541858G>A,c.275G>A,p.R92Q |
| TMEM51(NM_001136216,transmembrane protein 51,253aa) | g.1:15541704G>A,c.121G>A,p.E41K |
| TMEM51(NM_001136216,transmembrane protein 51,253aa) | g.1:15541621C>T,c.38C>T,p.A13V |
| TMEM50B(NM_006134,transmembrane protein 50B,158aa) | g.21:34841099T>C,c.94A>G,p.I32V |
| TMEM50B(NM_006134,transmembrane protein 50B,158aa) | g.21:34828050C>T,c.415G>A,p.A139T |
| TMEM50A(NM_014313,transmembrane protein 50A,157aa) | g.1:25679393G>A,c.295G>A,p.V99I |
| TMEM50A(NM_014313,transmembrane protein 50A,157aa) | g.1:25669531C>T,c.173C>T,p.A58V |
| TMEM50A(NM_014313,transmembrane protein 50A,157aa) | g.1:25667024G>T,c.47G>T,p.W16L |
| TMEM45B(NM_138788,transmembrane protein 45B,275aa) | g.11:129727331G>A,c.694G>A,p.V232I |
| TMEM45B(NM_138788,transmembrane protein 45B,275aa) | g.11:129725765T>C,c.548T>C,p.L183P |
| TMEM45B(NM_138788,transmembrane protein 45B,275aa) | g.11:129724576T>G,c.250T>G,p.L84V |
| TMEM45B(NM_138788,transmembrane protein 45B,275aa) | g.11:129722553C>T,c.176C>T,p.T59I |