| 基因名 | 突变 |
|---|---|
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101725374T>C,c.679A>G,p.S227G |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101725362T>C,c.691A>G,p.K231E |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101721899C>A,c.1033G>T,p.E345X |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101721839C>A,c.1093G>T,p.V365L |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101721817T>C,c.1115A>G,p.E372G |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101721812G>A,c.1120C>T,p.R374C |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101721727G>A,c.1205C>T,p.P402L |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101719226C>G,c.1337-1G>C,p.446Acceptor |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101719201A>G,c.1361T>C,p.I454T |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101719138C>T,c.1424G>A,p.R475Q |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101719121G>A,c.1441C>T,p.R481C |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101719004G>A,c.1477C>T,p.R493C |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101718968C>T,c.1513G>A,p.V505I |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101718965G>A,c.1516C>T,p.R506C |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101718932C>G,c.1549G>C,p.V517L |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101717832G>C,c.1672C>G,p.Q558E |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101717819A>G,c.1685T>C,p.L562S |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101717255T>A,c.1717A>T,p.M573L |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101717237C>T,c.1735G>A,p.G579S |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101717220C>T,c.1752G>A,p.M584I |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101717195G>C,c.1777C>G,p.L593V |
| PABPC1(NM_002568,poly(A) binding protein, cytoplasmic 1,636aa) | g.8:101717182A>G,c.1790T>C,p.L597P |
| PABPC1L(NM_001124756,poly(A) binding protein, cytoplasmic 1-like,614aa) | g.20:43564137G>A,c.1550G>A,p.R517Q |
| PABPC1L(NM_001124756,poly(A) binding protein, cytoplasmic 1-like,614aa) | g.20:43564101C>T,c.1514C>T,p.P505L |
| PABPC1L(NM_001124756,poly(A) binding protein, cytoplasmic 1-like,614aa) | g.20:43561803C>T,c.1421C>T,p.T474M |
| PABPC1L(NM_001124756,poly(A) binding protein, cytoplasmic 1-like,614aa) | g.20:43550364C>T,c.868C>T,p.R290C |
| PABPC1L(NM_001124756,poly(A) binding protein, cytoplasmic 1-like,614aa) | g.20:43547677T>G,c.634T>G,p.S212A |
| PABPC1L(NM_001124756,poly(A) binding protein, cytoplasmic 1-like,614aa) | g.20:43547597C>T,c.554C>T,p.A185V |