| 基因名 | 突变 |
|---|---|
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135438961C>T,c.479G>A,p.R160K |
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135438955C>T,c.485G>A,p.R162Q |
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135438943A>T,c.497T>A,p.V166D |
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135438929T>G,c.511A>C,p.I171L |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190883051G>A,c.704G>A,p.R235Q |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190883039T>C,c.692T>C,p.L231P |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190883030G>T,c.683G>T,p.S228I |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190883026G>T,c.679G>T,p.D227Y |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190883001C>G,c.654C>G,p.D218E |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190881969G>A,c.604G>A,p.V202I |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190881942G>A,c.577G>A,p.D193N |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190881933A>G,c.568A>G,p.K190E |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190878658G>A,c.537+1G>A,p.179Donor |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190878654C>G,c.534C>G,p.I178M |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190878580A>G,c.460A>G,p.S154G |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190878577A>G,c.457A>G,p.N153D |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190878563C>A,c.443C>A,p.A148D |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190876278G>A,c.404G>A,p.R135K |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190876272G>A,c.398G>A,p.G133E |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190876269T>C,c.395T>C,p.I132T |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190876257G>A,c.383G>A,p.R128H |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190876256C>T,c.382C>T,p.R128C |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190876242G>A,c.368G>A,p.G123E |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190876196G>A,c.322G>A,p.A108T |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190876192A>C,c.318A>C,p.R106S |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190874256C>T,c.293C>T,p.T98M |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190874255A>T,c.292A>T,p.T98S |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190874234C>T,c.271C>T,p.P91S |