| 基因名 | 突变 |
|---|---|
| TTF1(NM_007344,transcription termination factor, RNA polymerase I,905aa) | g.9:135277301A>G,c.908T>C,p.V303A |
| TTF1(NM_007344,transcription termination factor, RNA polymerase I,905aa) | g.9:135277136G>A,c.1073C>T,p.P358L |
| TTF1(NM_007344,transcription termination factor, RNA polymerase I,905aa) | g.9:135277130C>A,c.1079G>T,p.G360V |
| TTF1(NM_007344,transcription termination factor, RNA polymerase I,905aa) | g.9:135277061T>C,c.1148A>G,p.N383S |
| TTF1(NM_007344,transcription termination factor, RNA polymerase I,905aa) | g.9:135277007C>T,c.1202G>A,p.R401Q |
| TTF1(NM_007344,transcription termination factor, RNA polymerase I,905aa) | g.9:135276957G>T,c.1252C>A,p.L418I |
| TTF1(NM_007344,transcription termination factor, RNA polymerase I,905aa) | g.9:135276923A>T,c.1286T>A,p.M429K |
| TTF1(NM_007344,transcription termination factor, RNA polymerase I,905aa) | g.9:135276922C>T,c.1287G>A,p.M429I |
| TTF1(NM_007344,transcription termination factor, RNA polymerase I,905aa) | g.9:135276921C>T,c.1288G>A,p.E430K |
| TTF1(NM_007344,transcription termination factor, RNA polymerase I,905aa) | g.9:135275618A>C,c.1395T>G,p.N465K |
| TTF1(NM_007344,transcription termination factor, RNA polymerase I,905aa) | g.9:135275484G>C,c.1529C>G,p.T510S |
| TTF1(NM_007344,transcription termination factor, RNA polymerase I,905aa) | g.9:135271872G>A,c.1804C>T,p.L602F |
| TTF1(NM_007344,transcription termination factor, RNA polymerase I,905aa) | g.9:135271842C>T,c.1834G>A,p.D612N |
| TTF1(NM_007344,transcription termination factor, RNA polymerase I,905aa) | g.9:135263551G>A,c.2287C>T,p.R763W |
| TTF1(NM_007344,transcription termination factor, RNA polymerase I,905aa) | g.9:135251366G>A,c.2654C>T,p.A885V |
| TTF1(NM_007344,transcription termination factor, RNA polymerase I,905aa) | g.9:135251336C>T,c.2684G>A,p.S895N |
| TTC9(NM_015351,tetratricopeptide repeat domain 9,222aa) | g.14:71137844G>T,c.641G>T,p.C214F |
| TTC9(NM_015351,tetratricopeptide repeat domain 9,222aa) | g.14:71109153C>G,c.307C>G,p.P103A |
| TTC9C(NM_173810,tetratricopeptide repeat domain 9C,171aa) | g.11:62505766A>G,c.428A>G,p.N143S |
| TTC9C(NM_173810,tetratricopeptide repeat domain 9C,171aa) | g.11:62502917T>C,c.302T>C,p.L101P |
| TTC9B(NM_152479,tetratricopeptide repeat domain 9B,239aa) | g.19:40724255G>A,c.34C>T,p.L12F |
| TTC8(NM_144596,tetratricopeptide repeat domain 8,515aa) | g.14:89343669C>T,c.1463C>T,p.A488V |
| TTC8(NM_144596,tetratricopeptide repeat domain 8,515aa) | g.14:89338776C>T,c.1327C>T,p.R443W |
| TTC8(NM_144596,tetratricopeptide repeat domain 8,515aa) | g.14:89338702A>G,c.1253A>G,p.Q418R |
| TTC8(NM_144596,tetratricopeptide repeat domain 8,515aa) | g.14:89336442G>A,c.949G>A,p.E317K |
| TTC8(NM_144596,tetratricopeptide repeat domain 8,515aa) | g.14:89307227A>G,c.284A>G,p.K95R |
| TTC8(NM_144596,tetratricopeptide repeat domain 8,515aa) | g.14:89305845A>G,c.194A>G,p.D65G |
| TTC8(NM_144596,tetratricopeptide repeat domain 8,515aa) | g.14:89291056G>A,c.5G>A,p.S2N |