| 基因名 | 突变 |
|---|---|
| TSEN54(NM_207346,TSEN54 tRNA splicing endonuclease subunit,526aa) | g.17:73519416G>A,c.1313G>A,p.R438Q |
| TSEN54(NM_207346,TSEN54 tRNA splicing endonuclease subunit,526aa) | g.17:73519413C>T,c.1310C>T,p.A437V |
| TSEN54(NM_207346,TSEN54 tRNA splicing endonuclease subunit,526aa) | g.17:73518328A>C,c.1166A>C,p.Q389P |
| TSEN54(NM_207346,TSEN54 tRNA splicing endonuclease subunit,526aa) | g.17:73518241C>T,c.1079C>T,p.A360V |
| TSEN54(NM_207346,TSEN54 tRNA splicing endonuclease subunit,526aa) | g.17:73518203G>C,c.1041G>C,p.K347N |
| TSEN54(NM_207346,TSEN54 tRNA splicing endonuclease subunit,526aa) | g.17:73518121C>T,c.959C>T,p.P320L |
| TSEN54(NM_207346,TSEN54 tRNA splicing endonuclease subunit,526aa) | g.17:73518081G>T,c.919G>T,p.A307S |
| TSEN54(NM_207346,TSEN54 tRNA splicing endonuclease subunit,526aa) | g.17:73518043G>A,c.881G>A,p.R294Q |
| TSEN54(NM_207346,TSEN54 tRNA splicing endonuclease subunit,526aa) | g.17:73518024G>A,c.862G>A,p.V288I |
| TSEN54(NM_207346,TSEN54 tRNA splicing endonuclease subunit,526aa) | g.17:73517929G>A,c.767G>A,p.G256D |
| TSEN54(NM_207346,TSEN54 tRNA splicing endonuclease subunit,526aa) | g.17:73517536G>A,c.568G>A,p.V190M |
| TSEN54(NM_207346,TSEN54 tRNA splicing endonuclease subunit,526aa) | g.17:73513677A>C,c.409A>C,p.I137L |
| TSEN54(NM_207346,TSEN54 tRNA splicing endonuclease subunit,526aa) | g.17:73513281C>G,c.325C>G,p.R109G |
| TSEN54(NM_207346,TSEN54 tRNA splicing endonuclease subunit,526aa) | g.17:73512884T>G,c.114T>G,p.H38Q |
| TSEN54(NM_207346,TSEN54 tRNA splicing endonuclease subunit,526aa) | g.17:73512853C>T,c.83C>T,p.S28L |
| TSEN54(NM_207346,TSEN54 tRNA splicing endonuclease subunit,526aa) | g.17:73512653G>T,c.12G>T,p.E4D |
| TSEN34(NM_001282332,TSEN34 tRNA splicing endonuclease subunit,310aa) | g.19:54695789A>C,c.461A>C,p.Q154P |
| TSEN34(NM_001282332,TSEN34 tRNA splicing endonuclease subunit,310aa) | g.19:54695770G>T,c.442G>T,p.D148Y |
| TSEN34(NM_001282332,TSEN34 tRNA splicing endonuclease subunit,310aa) | g.19:54695722G>A,c.394G>A,p.G132R |
| TSEN34(NM_001282332,TSEN34 tRNA splicing endonuclease subunit,310aa) | g.19:54695662C>G,c.334C>G,p.L112V |
| TSEN34(NM_001282332,TSEN34 tRNA splicing endonuclease subunit,310aa) | g.19:54695642G>A,c.314G>A,p.R105Q |
| TSEN2(NM_001145395,TSEN2 tRNA splicing endonuclease subunit,402aa) | g.3:12560610C>G,c.935C>G,p.T312R |
| TSEN2(NM_001145395,TSEN2 tRNA splicing endonuclease subunit,402aa) | g.3:12545087A>C,c.635A>C,p.E212A |
| TSEN2(NM_001145395,TSEN2 tRNA splicing endonuclease subunit,402aa) | g.3:12545039G>T,c.587G>T,p.G196V |
| TSEN2(NM_001145395,TSEN2 tRNA splicing endonuclease subunit,402aa) | g.3:12544841A>C,c.389A>C,p.K130T |
| TSEN2(NM_001145395,TSEN2 tRNA splicing endonuclease subunit,402aa) | g.3:12544829G>A,c.377G>A,p.R126H |
| TSEN2(NM_001145395,TSEN2 tRNA splicing endonuclease subunit,402aa) | g.3:12544774G>T,c.322G>T,p.V108F |
| TSEN2(NM_001145395,TSEN2 tRNA splicing endonuclease subunit,402aa) | g.3:12531421G>A,c.122G>A,p.R41H |