| 基因名 | 突变 |
|---|---|
| TMEM102(NM_178518,transmembrane protein 102,508aa) | g.17:7340751C>T,c.1453C>T,p.R485C |
| TMEM102(NM_178518,transmembrane protein 102,508aa) | g.17:7340025G>A,c.727G>A,p.A243T |
| TMEM102(NM_178518,transmembrane protein 102,508aa) | g.17:7339903C>G,c.605C>G,p.A202G |
| TMEM102(NM_178518,transmembrane protein 102,508aa) | g.17:7339627C>T,c.329C>T,p.A110V |
| TMEM102(NM_178518,transmembrane protein 102,508aa) | g.17:7339347G>A,c.157G>A,p.G53R |
| TMEM101(NM_032376,transmembrane protein 101,257aa) | g.17:42089387G>A,c.683C>T,p.T228M |
| TMEM100(NM_001099640,transmembrane protein 100,134aa) | g.17:53798215C>T,c.217G>A,p.A73T |
| TMEFF2(NM_016192,transmembrane protein with EGF-like and two follistatin-like domains 2,374aa) | g.2:192922499G>A,c.442C>T,p.H148Y |
| TMEFF2(NM_016192,transmembrane protein with EGF-like and two follistatin-like domains 2,374aa) | g.2:192818525T>C,c.908A>G,p.K303R |
| TMEFF1(NM_003692,transmembrane protein with EGF-like and two follistatin-like domains 1,380aa) | g.9:103235956C>G,c.130C>G,p.P44A |
| TMED9(NM_017510,transmembrane emp24 protein transport domain containing 9,235aa) | g.5:177022361G>A,c.652G>A,p.G218S |
| TMED9(NM_017510,transmembrane emp24 protein transport domain containing 9,235aa) | g.5:177019262C>G,c.47C>G,p.T16S |
| TMED8(NM_213601,transmembrane emp24 protein transport domain containing 8,325aa) | g.14:77843384G>T,c.13C>A,p.Q5K |
| TMED8(NM_213601,transmembrane emp24 protein transport domain containing 8,325aa) | g.14:77843368G>T,c.29C>A,p.P10Q |
| TMED8(NM_213601,transmembrane emp24 protein transport domain containing 8,325aa) | g.14:77843363A>G,c.34T>C,p.S12P |
| TMED8(NM_213601,transmembrane emp24 protein transport domain containing 8,325aa) | g.14:77843353G>T,c.44C>A,p.P15H |
| TMED8(NM_213601,transmembrane emp24 protein transport domain containing 8,325aa) | g.14:77810133C>T,c.361G>A,p.D121N |
| TMED7-TICAM2(NM_001164469,TMED7-TICAM2 readthrough,188aa) | g.5:114961396C>A,c.94G>T,p.G32C |
| TMED7-TICAM2(NM_001164469,TMED7-TICAM2 readthrough,188aa) | g.5:114961392C>A,c.98G>T,p.G33V |
| TMED7-TICAM2(NM_001164469,TMED7-TICAM2 readthrough,188aa) | g.5:114956262del,c.308del,p.103fs |
| TMED6(NM_144676,transmembrane emp24 protein transport domain containing 6,240aa) | g.16:69385641A>G,c.16T>C,p.F6L |
| TMED6(NM_144676,transmembrane emp24 protein transport domain containing 6,240aa) | g.16:69385548G>A,c.109C>T,p.R37C |
| TMED6(NM_144676,transmembrane emp24 protein transport domain containing 6,240aa) | g.16:69385499G>A,c.158C>T,p.T53M |
| TMED6(NM_144676,transmembrane emp24 protein transport domain containing 6,240aa) | g.16:69381824C>G,c.356G>C,p.C119S |
| TMED6(NM_144676,transmembrane emp24 protein transport domain containing 6,240aa) | g.16:69377470A>G,c.563T>C,p.M188T |
| TMED6(NM_144676,transmembrane emp24 protein transport domain containing 6,240aa) | g.16:69377350T>C,c.683A>G,p.N228S |
| TMED5(NM_001167830,transmembrane emp24 protein transport domain containing 5,193aa) | g.1:93625685C>T,c.287+1G>A,p.96Donor |
| TMED5(NM_001167830,transmembrane emp24 protein transport domain containing 5,193aa) | g.1:93621907T>C,c.421A>G,p.K141E |