| 基因名 | 突变 |
|---|---|
| FRG2C(NM_001124759,FSHD region gene 2 family, member C,282aa) | g.3:75714337T>G,c.317T>G,p.I106S |
| FRG2C(NM_001124759,FSHD region gene 2 family, member C,282aa) | g.3:75714298A>G,c.278A>G,p.Q93R |
| FRG2C(NM_001124759,FSHD region gene 2 family, member C,282aa) | g.3:75714041G>A,c.250G>A,p.G84R |
| FRG2C(NM_001124759,FSHD region gene 2 family, member C,282aa) | g.3:75714034C>G,c.243C>G,p.S81R |
| FRG2C(NM_001124759,FSHD region gene 2 family, member C,282aa) | g.3:75713980T>G,c.189T>G,p.D63E |
| FRG2C(NM_001124759,FSHD region gene 2 family, member C,282aa) | g.3:75713976C>G,c.185C>G,p.S62X |
| FRG2C(NM_001124759,FSHD region gene 2 family, member C,282aa) | g.3:75713669G>A,c.139G>A,p.A47T |
| FRG2C(NM_001124759,FSHD region gene 2 family, member C,282aa) | g.3:75713654G>A,c.124G>A,p.G42R |
| FRG2C(NM_001124759,FSHD region gene 2 family, member C,282aa) | g.3:75713618A>T,c.88A>T,p.T30S |
| FRG2C(NM_001124759,FSHD region gene 2 family, member C,282aa) | g.3:75713564T>C,c.34T>C,p.C12R |
| FRG2C(NM_001124759,FSHD region gene 2 family, member C,282aa) | g.3:75713563C>G,c.33C>G,p.H11Q |
| FRG2C(NM_001124759,FSHD region gene 2 family, member C,282aa) | g.3:75713561C>T,c.31C>T,p.H11Y |
| FRG2C(NM_001124759,FSHD region gene 2 family, member C,282aa) | g.3:75713555G>A,c.25G>A,p.D9N |
| FRG2C(NM_001124759,FSHD region gene 2 family, member C,282aa) | g.3:75713552C>A,c.22C>A,p.P8T |
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135440226G>C,c.21C>G,p.D7E |
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135440222C>T,c.25G>A,p.D9N |
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135440216G>A,c.31C>T,p.H11Y |
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135440214G>C,c.33C>G,p.H11Q |
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135440203A>T,c.44T>A,p.I15N |
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135440159T>A,c.88A>T,p.T30S |
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135440122T>C,c.125A>G,p.E42G |
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135439094T>C,c.346A>G,p.K116E |
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135439079A>T,c.361T>A,p.S121T |
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135439049G>C,c.391C>G,p.P131A |
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135439015T>C,c.425A>G,p.D142G |
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135438991C>G,c.449G>C,p.R150T |
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135438977G>A,c.463C>T,p.R155C |
| FRG2B(NM_001080998,FSHD region gene 2 family, member B,278aa) | g.10:135438967C>T,c.473G>A,p.R158Q |