| 基因名 | 突变 |
|---|---|
| PACRGL(NM_001258345,PARK2 co-regulated-like,248aa) | g.4:20709441C>T,c.223C>T,p.R75X |
| PACRGL(NM_001258345,PARK2 co-regulated-like,248aa) | g.4:20706388A>G,c.158A>G,p.K53R |
| PABPN1L(NM_001080487,poly(A) binding protein, nuclear 1-like (cytoplasmic),278aa) | g.16:88932857T>C,c.158A>G,p.E53G |
| PABPN1L(NM_001080487,poly(A) binding protein, nuclear 1-like (cytoplasmic),278aa) | g.16:88932769C>G,c.246G>C,p.L82F |
| PABPN1L(NM_001080487,poly(A) binding protein, nuclear 1-like (cytoplasmic),278aa) | g.16:88932034G>T,c.396C>A,p.C132X |
| PABPN1L(NM_001080487,poly(A) binding protein, nuclear 1-like (cytoplasmic),278aa) | g.16:88932012C>T,c.418G>A,p.E140K |
| PABPN1L(NM_001080487,poly(A) binding protein, nuclear 1-like (cytoplasmic),278aa) | g.16:88931491G>A,c.505C>T,p.R169C |
| PABPN1L(NM_001080487,poly(A) binding protein, nuclear 1-like (cytoplasmic),278aa) | g.16:88931302C>T,c.613G>A,p.V205M |
| PABPN1L(NM_001080487,poly(A) binding protein, nuclear 1-like (cytoplasmic),278aa) | g.16:88931274C>T,c.641G>A,p.G214D |
| PABPN1L(NM_001080487,poly(A) binding protein, nuclear 1-like (cytoplasmic),278aa) | g.16:88930739C>T,c.703G>A,p.G235R |
| PABPN1L(NM_001080487,poly(A) binding protein, nuclear 1-like (cytoplasmic),278aa) | g.16:88930198C>T,c.803G>A,p.R268H |
| PABPC4(NM_001135653,poly(A) binding protein, cytoplasmic 4 (inducible form),660aa) | g.1:40035281C>T,c.724G>A,p.E242K |
| PABPC4L(NM_001114734,poly(A) binding protein, cytoplasmic 4-like,428aa) | g.4:135122036T>G,c.313A>C,p.T105P |
| PABPC4L(NM_001114734,poly(A) binding protein, cytoplasmic 4-like,428aa) | g.4:135121721T>C,c.628A>G,p.R210G |
| PABPC4L(NM_001114734,poly(A) binding protein, cytoplasmic 4-like,428aa) | g.4:135121601C>T,c.748G>A,p.V250I |
| PABPC4L(NM_001114734,poly(A) binding protein, cytoplasmic 4-like,428aa) | g.4:135121472C>G,c.877G>C,p.V293L |
| PABPC4L(NM_001114734,poly(A) binding protein, cytoplasmic 4-like,428aa) | g.4:135121183C>T,c.1166G>A,p.S389N |
| PABPC4L(NM_001114734,poly(A) binding protein, cytoplasmic 4-like,428aa) | g.4:135121066T>G,c.1283A>C,p.H428P |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25672084T>C,c.1748T>C,p.I583T |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671941A>C,c.1605A>C,p.Q535H |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671826C>T,c.1490C>T,p.T497I |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671820C>T,c.1484C>T,p.A495V |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671789G>C,c.1453G>C,p.G485R |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671766C>T,c.1430C>T,p.A477V |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671759C>T,c.1423C>T,p.R475C |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671742G>A,c.1406G>A,p.R469Q |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671714A>G,c.1378A>G,p.M460V |
| PABPC3(NM_030979,poly(A) binding protein, cytoplasmic 3,631aa) | g.13:25671700T>C,c.1364T>C,p.V455A |