| 基因名 | 突变 |
|---|---|
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671699G>C,c.1363G>C,p.V455L |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671688G>C,c.1352G>C,p.G451A |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671679T>C,c.1343T>C,p.I448T |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671672A>G,c.1336A>G,p.S446G |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671667A>T,c.1331A>T,p.K444M |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671607G>A,c.1271G>A,p.R424Q |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671538G>A,c.1202G>A,p.G401D |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671349T>A,c.1013T>A,p.V338E |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671292C>T,c.956C>T,p.T319I |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671027A>G,c.691A>G,p.K231E |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671015A>G,c.679A>G,p.S227G |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25670988T>G,c.652T>G,p.L218V |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25670985G>A,c.649G>A,p.A217T |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25670955C>T,c.619C>T,p.L207F |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25670953G>A,c.617G>A,p.R206H |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25670868G>A,c.532G>A,p.E178K |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25670851A>G,c.515A>G,p.Q172R |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25670832C>T,c.496C>T,p.R166C |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25670676G>A,c.340G>A,p.A114T |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25670583C>T,c.247C>T,p.R83C |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101730110A>C,c.394T>G,p.C132G |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101730073T>C,c.431A>G,p.H144R |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101730064G>A,c.440C>T,p.T147M |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101730008G>A,c.496C>T,p.R166C |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101727750T>C,c.583A>G,p.I195V |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101727716C>T,c.617G>A,p.R206H |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101727714G>A,c.619C>T,p.L207F |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101725401A>C,c.652T>G,p.L218V |