| 基因名 | 突变 |
|---|---|
| TMEM130(NM_001134450,transmembrane protein 130,435aa) | g.7:98449223C>T,c.827G>A,p.R276H |
| TMEM130(NM_001134450,transmembrane protein 130,435aa) | g.7:98449170C>T,c.880G>A,p.V294M |
| TMEM130(NM_001134450,transmembrane protein 130,435aa) | g.7:98449104G>A,c.946C>T,p.R316W |
| TMEM130(NM_001134450,transmembrane protein 130,435aa) | g.7:98446238G>A,c.1087C>T,p.R363W |
| TMEM130(NM_001134450,transmembrane protein 130,435aa) | g.7:98446205C>T,c.1119+1G>A,p.373Donor |
| TMEM129(NM_001127266,transmembrane protein 129,362aa) | g.4:1720312G>T,c.247C>A,p.L83I |
| TMEM129(NM_001127266,transmembrane protein 129,362aa) | g.4:1720294C>A,c.265G>T,p.A89S |
| TMEM129(NM_001127266,transmembrane protein 129,362aa) | g.4:1720258C>T,c.301G>A,p.V101M |
| TMEM129(NM_001127266,transmembrane protein 129,362aa) | g.4:1720119G>C,c.440C>G,p.T147S |
| TMEM129(NM_001127266,transmembrane protein 129,362aa) | g.4:1719952A>T,c.607T>A,p.S203T |
| TMEM129(NM_001127266,transmembrane protein 129,362aa) | g.4:1719361C>T,c.722G>A,p.R241Q |
| TMEM128(NM_032927,transmembrane protein 128,141aa) | g.4:4247997C>A,c.99G>T,p.L33F |
| TMEM128(NM_032927,transmembrane protein 128,141aa) | g.4:4247938T>C,c.158A>G,p.H53R |
| TMEM128(NM_032927,transmembrane protein 128,141aa) | g.4:4239589C>T,c.400G>A,p.V134I |
| TMEM127(NM_017849,transmembrane protein 127,238aa) | g.2:96931067G>A,c.53C>T,p.P18L |
| TMEM127(NM_017849,transmembrane protein 127,238aa) | g.2:96920688C>T,c.292G>A,p.A98T |
| TMEM126B(NM_001193538,transmembrane protein 126B,200aa) | g.11:85347215G>T,c.545G>T,p.G182V |
| TMEM126B(NM_001193538,transmembrane protein 126B,200aa) | g.11:85347173C>T,c.503C>T,p.A168V |
| TMEM126B(NM_001193538,transmembrane protein 126B,200aa) | g.11:85346810G>A,c.407G>A,p.R136H |
| TMEM126B(NM_001193538,transmembrane protein 126B,200aa) | g.11:85346809C>T,c.406C>T,p.R136C |
| TMEM126B(NM_001193538,transmembrane protein 126B,200aa) | g.11:85346753T>C,c.350T>C,p.I117T |
| TMEM126A(NM_032273,transmembrane protein 126A,195aa) | g.11:85366724A>G,c.367A>G,p.I123V |
| TMEM126A(NM_032273,transmembrane protein 126A,195aa) | g.11:85366671G>A,c.314G>A,p.R105Q |
| TMEM126A(NM_032273,transmembrane protein 126A,195aa) | g.11:85365174A>G,c.154A>G,p.S52G |
| TMEM125(NM_144626,transmembrane protein 125,219aa) | g.1:43739021G>A,c.628G>A,p.E210K |
| TMEM125(NM_144626,transmembrane protein 125,219aa) | g.1:43738913G>A,c.520G>A,p.G174R |
| TMEM125(NM_144626,transmembrane protein 125,219aa) | g.1:43738829G>A,c.436G>A,p.A146T |
| TMEM125(NM_144626,transmembrane protein 125,219aa) | g.1:43738775G>A,c.382G>A,p.G128S |