| 基因名 | 突变 |
|---|---|
| RPL7A(NM_000972,ribosomal protein L7a,266aa) | g.9:136216823A>C,c.331A>C,p.K111Q |
| RPL7A(NM_000972,ribosomal protein L7a,266aa) | g.9:136215793C>T,c.20C>T,p.A7V |
| RPL6(NM_001024662,ribosomal protein L6,288aa) | g.12:112846127T>C,c.253A>G,p.K85E |
| RPL6(NM_001024662,ribosomal protein L6,288aa) | g.12:112846125_112846127del,c.253_255del,p.85del |
| RPL6(NM_001024662,ribosomal protein L6,288aa) | g.12:112844614T>G,c.417A>C,p.K139N |
| RPL6(NM_001024662,ribosomal protein L6,288aa) | g.12:112844606G>C,c.425C>G,p.A142G |
| RPL6(NM_001024662,ribosomal protein L6,288aa) | g.12:112843710T>G,c.661A>C,p.K221Q |
| RPL6(NM_001024662,ribosomal protein L6,288aa) | g.12:112843703C>T,c.668G>A,p.R223Q |
| RPL5(NM_000969,ribosomal protein L5,297aa) | g.1:93303114A>G,c.629A>G,p.Y210C |
| RPL4(NM_000968,ribosomal protein L4,427aa) | g.15:66794169A>G,c.503T>C,p.V168A |
| RPL3(NM_000967,ribosomal protein L3,403aa) | g.22:39712782T>G,c.430A>C,p.K144Q |
| RPL3(NM_000967,ribosomal protein L3,403aa) | g.22:39708965C>T,c.1192G>A,p.A398T |
| RPL3L(NM_005061,ribosomal protein L3-like,407aa) | g.16:2004142C>T,c.11G>A,p.R4Q |
| RPL3L(NM_005061,ribosomal protein L3-like,407aa) | g.16:2004119C>T,c.34G>A,p.G12R |
| RPL3L(NM_005061,ribosomal protein L3-like,407aa) | g.16:2003988G>C,c.165C>G,p.H55Q |
| RPL3L(NM_005061,ribosomal protein L3-like,407aa) | g.16:2003016G>A,c.224C>T,p.A75V |
| RPL3L(NM_005061,ribosomal protein L3-like,407aa) | g.16:2002996G>C,c.244C>G,p.P82A |
| RPL3L(NM_005061,ribosomal protein L3-like,407aa) | g.16:2002960C>T,c.280G>A,p.A94T |
| RPL3L(NM_005061,ribosomal protein L3-like,407aa) | g.16:2002896C>T,c.344G>A,p.R115Q |
| RPL3L(NM_005061,ribosomal protein L3-like,407aa) | g.16:1997362C>T,c.521G>A,p.R174Q |
| RPL3L(NM_005061,ribosomal protein L3-like,407aa) | g.16:1997321C>T,c.562G>A,p.G188S |
| RPL3L(NM_005061,ribosomal protein L3-like,407aa) | g.16:1997309C>T,c.574G>A,p.E192K |
| RPL3L(NM_005061,ribosomal protein L3-like,407aa) | g.16:1997294C>T,c.589G>A,p.A197T |
| RPL3L(NM_005061,ribosomal protein L3-like,407aa) | g.16:1997284C>T,c.599G>A,p.R200Q |
| RPL3L(NM_005061,ribosomal protein L3-like,407aa) | g.16:1997206C>T,c.677G>A,p.R226Q |
| RPL3L(NM_005061,ribosomal protein L3-like,407aa) | g.16:1997087C>T,c.701G>A,p.R234H |
| RPL3L(NM_005061,ribosomal protein L3-like,407aa) | g.16:1997064G>A,c.724C>T,p.R242W |
| RPL3L(NM_005061,ribosomal protein L3-like,407aa) | g.16:1997006C>T,c.782G>A,p.R261H |