| 基因名 | 突变 |
|---|---|
| TMEM61(NM_182532,transmembrane protein 61,210aa) | g.1:55457598C>T,c.455C>T,p.T152M |
| TMEM61(NM_182532,transmembrane protein 61,210aa) | g.1:55451915C>T,c.161C>T,p.T54M |
| TMEM61(NM_182532,transmembrane protein 61,210aa) | g.1:55451872G>A,c.118G>A,p.E40K |
| TMEM60(NM_032936,transmembrane protein 60,133aa) | g.7:77423549T>G,c.142A>C,p.I48L |
| TMEM60(NM_032936,transmembrane protein 60,133aa) | g.7:77423450G>A,c.241C>T,p.L81F |
| TMEM60(NM_032936,transmembrane protein 60,133aa) | g.7:77423392T>C,c.299A>G,p.Q100R |
| TMEM5(NM_001278237,transmembrane protein 5,183aa) | g.12:64202742C>T,c.422C>T,p.T141I |
| TMEM5(NM_001278237,transmembrane protein 5,183aa) | g.12:64202649G>A,c.329G>A,p.G110D |
| TMEM59(NM_004872,transmembrane protein 59,323aa) | g.1:54518725G>A,c.137C>T,p.A46V |
| TMEM59(NM_004872,transmembrane protein 59,323aa) | g.1:54509150C>T,c.439G>A,p.V147M |
| TMEM59L(NM_012109,transmembrane protein 59-like,342aa) | g.19:18729028C>T,c.728C>T,p.A243V |
| TMEM59L(NM_012109,transmembrane protein 59-like,342aa) | g.19:18727858C>T,c.610C>T,p.R204C |
| TMEM59L(NM_012109,transmembrane protein 59-like,342aa) | g.19:18727850G>A,c.602G>A,p.R201H |
| TMEM59L(NM_012109,transmembrane protein 59-like,342aa) | g.19:18727842G>T,c.594G>T,p.Q198H |
| TMEM59L(NM_012109,transmembrane protein 59-like,342aa) | g.19:18726857G>A,c.481G>A,p.V161I |
| TMEM59L(NM_012109,transmembrane protein 59-like,342aa) | g.19:18724919G>C,c.322G>C,p.V108L |
| TMEM59L(NM_012109,transmembrane protein 59-like,342aa) | g.19:18724695G>A,c.185G>A,p.G62D |
| TMEM57(NM_018202,transmembrane protein 57,664aa) | g.1:25815776A>G,c.1609A>G,p.K537E |
| TMEM57(NM_018202,transmembrane protein 57,664aa) | g.1:25810607G>C,c.1155G>C,p.R385S |
| TMEM55A(NM_018710,transmembrane protein 55A,257aa) | g.8:92033591C>T,c.148G>A,p.A50T |
| TMEM55A(NM_018710,transmembrane protein 55A,257aa) | g.8:92033588T>C,c.151A>G,p.S51G |
| TMEM54(NM_033504,transmembrane protein 54,222aa) | g.1:33363801C>T,c.136G>A,p.V46M |
| TMEM54(NM_033504,transmembrane protein 54,222aa) | g.1:33361552C>T,c.229G>A,p.A77T |
| TMEM54(NM_033504,transmembrane protein 54,222aa) | g.1:33361287G>A,c.328C>T,p.L110F |
| TMEM54(NM_033504,transmembrane protein 54,222aa) | g.1:33361173C>T,c.442G>A,p.D148N |
| TMEM54(NM_033504,transmembrane protein 54,222aa) | g.1:33361163C>T,c.452G>A,p.R151H |
| TMEM54(NM_033504,transmembrane protein 54,222aa) | g.1:33360977C>T,c.523G>A,p.V175I |
| TMEM54(NM_033504,transmembrane protein 54,222aa) | g.1:33360462G>C,c.613C>G,p.L205V |