| 基因名 | 突变 |
|---|---|
| TMEM194B(NM_001142645,transmembrane protein 194B,417aa) | g.2:191383867C>T,c.256G>A,p.A86T |
| TMEM194A(NM_001130963,transmembrane protein 194A,444aa) | g.12:57464459C>T,c.470G>A,p.R157Q |
| TMEM194A(NM_001130963,transmembrane protein 194A,444aa) | g.12:57457959T>C,c.649A>G,p.I217V |
| TMEM194A(NM_001130963,transmembrane protein 194A,444aa) | g.12:57454690C>T,c.1019G>A,p.R340H |
| TMEM194A(NM_001130963,transmembrane protein 194A,444aa) | g.12:57453699C>T,c.1298G>A,p.R433Q |
| TMEM194A(NM_001130963,transmembrane protein 194A,444aa) | g.12:57453694G>A,c.1303C>T,p.P435S |
| TMEM192(NM_001100389,transmembrane protein 192,271aa) | g.4:166021848C>T,c.371G>A,p.R124Q |
| TMEM191C(NM_001207052,transmembrane protein 191C,347aa) | g.22:21822665T>C,c.494T>C,p.L165P |
| TMEM191C(NM_001207052,transmembrane protein 191C,347aa) | g.22:21822301T>G,c.415T>G,p.Y139D |
| TMEM191B(NM_001242313,transmembrane protein 191B,346aa) | g.22:20378905C>T,c.491C>T,p.P164L |
| TMEM190(NM_139172,transmembrane protein 190,177aa) | g.19:55889467G>A,c.430G>A,p.V144M |
| TMEM190(NM_139172,transmembrane protein 190,177aa) | g.19:55889387C>T,c.350C>T,p.A117V |
| TMEM190(NM_139172,transmembrane protein 190,177aa) | g.19:55889178C>T,c.229C>T,p.R77W |
| TMEM18(NM_152834,transmembrane protein 18,140aa) | g.2:677342G>A,c.4C>T,p.P2S |
| TMEM18(NM_152834,transmembrane protein 18,140aa) | g.2:675618T>A,c.70A>T,p.T24S |
| TMEM18(NM_152834,transmembrane protein 18,140aa) | g.2:672826G>A,c.215C>T,p.A72V |
| TMEM18(NM_152834,transmembrane protein 18,140aa) | g.2:669801T>C,c.283A>G,p.I95V |
| TMEM18(NM_152834,transmembrane protein 18,140aa) | g.2:669666C>A,c.337G>T,p.V113L |
| TMEM189-UBE2V1(NM_199203,TMEM189-UBE2V1 readthrough,370aa) | g.20:48770159T>C,c.16A>G,p.N6D |
| TMEM189-UBE2V1(NM_199203,TMEM189-UBE2V1 readthrough,370aa) | g.20:48770156A>C,c.19T>G,p.W7G |
| TMEM189-UBE2V1(NM_199203,TMEM189-UBE2V1 readthrough,370aa) | g.20:48760054C>T,c.226G>A,p.V76I |
| TMEM189-UBE2V1(NM_199203,TMEM189-UBE2V1 readthrough,370aa) | g.20:48744572G>A,c.631C>T,p.R211C |
| TMEM187(NM_003492,transmembrane protein 187,261aa) | g.X:153247991C>G,c.478C>G,p.P160A |
| TMEM187(NM_003492,transmembrane protein 187,261aa) | g.X:153247745A>G,c.232A>G,p.M78V |
| TMEM187(NM_003492,transmembrane protein 187,261aa) | g.X:153247722C>T,c.209C>T,p.S70L |
| TMEM187(NM_003492,transmembrane protein 187,261aa) | g.X:153247637G>A,c.124G>A,p.E42K |
| TMEM186(NM_015421,transmembrane protein 186,213aa) | g.16:8891471T>C,c.1A>G,p.M1V |
| TMEM186(NM_015421,transmembrane protein 186,213aa) | g.16:8890443G>A,c.8C>T,p.A3V |