| 基因名 | 突变 |
|---|---|
| TMEM72(NM_001123376,transmembrane protein 72,275aa) | g.10:45430443G>A,c.689G>A,p.R230H |
| TMEM72(NM_001123376,transmembrane protein 72,275aa) | g.10:45430394G>A,c.640G>A,p.D214N |
| TMEM72(NM_001123376,transmembrane protein 72,275aa) | g.10:45430169_45430170insC,c.415_416insC,p.139fs |
| TMEM72(NM_001123376,transmembrane protein 72,275aa) | g.10:45430124G>A,c.370G>A,p.G124S |
| TMEM72(NM_001123376,transmembrane protein 72,275aa) | g.10:45423377G>A,c.79G>A,p.G27S |
| TMEM71(NM_144649,transmembrane protein 71,276aa) | g.8:133764161G>A,c.184C>T,p.R62C |
| TMEM71(NM_144649,transmembrane protein 71,276aa) | g.8:133764112T>C,c.233A>G,p.D78G |
| TMEM70(NM_001040613,transmembrane protein 70,107aa) | g.8:74893388A>G,c.*7-2A>G,p.3'UTRAcceptor |
| TMEM70(NM_001040613,transmembrane protein 70,107aa) | g.8:74888640A>G,c.124A>G,p.S42G |
| TMEM70(NM_001040613,transmembrane protein 70,107aa) | g.8:74888616G>C,c.100G>C,p.A34P |
| TMEM69(NM_016486,transmembrane protein 69,247aa) | g.1:46159158G>A,c.325G>A,p.V109I |
| TMEM68(NM_152417,transmembrane protein 68,257aa) | g.8:56675419A>T,c.100T>A,p.L34M |
| TMEM68(NM_152417,transmembrane protein 68,257aa) | g.8:56675409T>A,c.110A>T,p.Y37F |
| TMEM68(NM_152417,transmembrane protein 68,257aa) | g.8:56675399A>C,c.120T>G,p.F40L |
| TMEM68(NM_152417,transmembrane protein 68,257aa) | g.8:56675233C>T,c.286G>A,p.V96M |
| TMEM68(NM_152417,transmembrane protein 68,257aa) | g.8:56652691T>C,c.774A>G,p.X258W |
| TMEM67(NM_153704,transmembrane protein 67,995aa) | g.8:94828616G>A,c.2924G>A,p.R975H |
| TMEM67(NM_153704,transmembrane protein 67,995aa) | g.8:94821362T>G,c.2634T>G,p.N878K |
| TMEM67(NM_153704,transmembrane protein 67,995aa) | g.8:94817064T>C,c.2397T>C,p.D799D |
| TMEM67(NM_153704,transmembrane protein 67,995aa) | g.8:94816990A>G,c.2323A>G,p.I775V |
| TMEM67(NM_153704,transmembrane protein 67,995aa) | g.8:94811986G>A,c.2241G>A,p.Q747Q |
| TMEM67(NM_153704,transmembrane protein 67,995aa) | g.8:94811906C>T,c.2161C>T,p.P721S |
| TMEM67(NM_153704,transmembrane protein 67,995aa) | g.8:94808165A>G,c.1810A>G,p.I604V |
| TMEM67(NM_153704,transmembrane protein 67,995aa) | g.8:94805435G>A,c.1585G>A,p.G529S |
| TMEM67(NM_153704,transmembrane protein 67,995aa) | g.8:94800170C>A,c.1511C>A,p.S504Y |
| TMEM67(NM_153704,transmembrane protein 67,995aa) | g.8:94798541G>C,c.1379G>C,p.R460T |
| TMEM67(NM_153704,transmembrane protein 67,995aa) | g.8:94798471C>G,c.1309C>G,p.L437V |
| TMEM67(NM_153704,transmembrane protein 67,995aa) | g.8:94793190A>T,c.958A>T,p.S320C |