| 基因名 | 突变 |
|---|---|
| TMBIM6(NM_001098576,transmembrane BAX inhibitor motif containing 6,295aa) | g.12:50146263C>T,c.161C>T,p.T54M |
| TMBIM6(NM_001098576,transmembrane BAX inhibitor motif containing 6,295aa) | g.12:50135968C>T,c.49C>T,p.R17W |
| TMBIM4(NM_016056,transmembrane BAX inhibitor motif containing 4,238aa) | g.12:66563658G>A,c.74C>T,p.S25F |
| TMBIM4(NM_016056,transmembrane BAX inhibitor motif containing 4,238aa) | g.12:66546100A>G,c.263T>C,p.I88T |
| TMBIM4(NM_016056,transmembrane BAX inhibitor motif containing 4,238aa) | g.12:66541720G>A,c.314C>T,p.T105M |
| TMBIM4(NM_016056,transmembrane BAX inhibitor motif containing 4,238aa) | g.12:66531758T>G,c.699A>C,p.E233D |
| TMBIM1(NM_022152,transmembrane BAX inhibitor motif containing 1,311aa) | g.2:219146803G>A,c.62C>T,p.P21L |
| TMBIM1(NM_022152,transmembrane BAX inhibitor motif containing 1,311aa) | g.2:219146737G>A,c.128C>T,p.P43L |
| TMBIM1(NM_022152,transmembrane BAX inhibitor motif containing 1,311aa) | g.2:219146663C>T,c.202G>A,p.G68S |
| TMBIM1(NM_022152,transmembrane BAX inhibitor motif containing 1,311aa) | g.2:219143275C>A,c.436G>T,p.V146F |
| TMBIM1(NM_022152,transmembrane BAX inhibitor motif containing 1,311aa) | g.2:219140213C>T,c.921G>A,p.M307I |
| TMBIM1(NM_022152,transmembrane BAX inhibitor motif containing 1,311aa) | g.2:219140205C>T,c.929G>A,p.R310H |
| TMA16(NM_018352,translation machinery associated 16 homolog (S. cerevisiae),203aa) | g.4:164440581T>C,c.527T>C,p.I176T |
| TMA16(NM_018352,translation machinery associated 16 homolog (S. cerevisiae),203aa) | g.4:164438610G>A,c.413G>A,p.S138N |
| TMA16(NM_018352,translation machinery associated 16 homolog (S. cerevisiae),203aa) | g.4:164436581G>A,c.356G>A,p.R119Q |
| TMA16(NM_018352,translation machinery associated 16 homolog (S. cerevisiae),203aa) | g.4:164436580C>T,c.355C>T,p.R119W |
| TMA16(NM_018352,translation machinery associated 16 homolog (S. cerevisiae),203aa) | g.4:164436515G>A,c.290G>A,p.S97N |
| TMA16(NM_018352,translation machinery associated 16 homolog (S. cerevisiae),203aa) | g.4:164436465G>T,c.240G>T,p.R80S |
| TMA16(NM_018352,translation machinery associated 16 homolog (S. cerevisiae),203aa) | g.4:164435265A>C,c.194A>C,p.Q65P |
| TM9SF4(NM_014742,transmembrane 9 superfamily protein member 4,642aa) | g.20:30749086G>A,c.1697G>A,p.R566H |
| TM9SF4(NM_014742,transmembrane 9 superfamily protein member 4,642aa) | g.20:30734612G>A,c.908G>A,p.R303Q |
| TM9SF4(NM_014742,transmembrane 9 superfamily protein member 4,642aa) | g.20:30730900G>A,c.644G>A,p.R215K |
| TM9SF4(NM_014742,transmembrane 9 superfamily protein member 4,642aa) | g.20:30729619G>A,c.449G>A,p.R150Q |
| TM9SF3(NM_020123,transmembrane 9 superfamily member 3,589aa) | g.10:98290351G>A,c.1340C>T,p.A447V |
| TM9SF1(NM_006405,transmembrane 9 superfamily member 1,606aa) | g.14:24662296T>C,c.525A>G,p.I175M |
| TM9SF1(NM_006405,transmembrane 9 superfamily member 1,606aa) | g.14:24662177C>T,c.644G>A,p.R215H |
| TM9SF1(NM_006405,transmembrane 9 superfamily member 1,606aa) | g.14:24662175G>A,c.646C>T,p.R216W |
| TM9SF1(NM_006405,transmembrane 9 superfamily member 1,606aa) | g.14:24659654C>A,c.1359G>T,p.E453D |