| 基因名 | 突变 |
|---|---|
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190873379A>G,c.196A>G,p.K66E |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190873352T>C,c.169T>C,p.S57P |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190873347A>G,c.164A>G,p.E55G |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190873335C>T,c.152C>T,p.T51I |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190873331G>T,c.148G>T,p.V50L |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190864371G>A,c.77G>A,p.S26N |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190862219A>G,c.55A>G,p.T19A |
| FRG1(NM_004477,FSHD region gene 1,258aa) | g.4:190862204C>T,c.40C>T,p.L14F |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144621779A>G,c.50T>C,p.V17A |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144621585G>A,c.244C>T,p.L82F |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144621404_144621405insGCAGCA,c.424_425insTGCTGC,p.142ins2aa |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144621002C>T,c.827G>A,p.G276D |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144620655G>A,c.1174C>T,p.P392S |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144620540G>C,c.1289C>G,p.T430S |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144620391G>T,c.1438C>A,p.Q480K |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144620271G>A,c.1558C>T,p.R520W |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144620193C>A,c.1636G>T,p.V546F |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144619856C>A,c.1973G>T,p.R658L |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144619823A>G,c.2006T>C,p.M669T |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144619592G>A,c.2237C>T,p.T746I |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144619314T>G,c.2515A>C,p.I839L |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144619088G>T,c.2741C>A,p.T914N |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144618782C>A,c.3047G>T,p.R1016I |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144618610G>C,c.3219C>G,p.F1073L |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144618119C>T,c.3710G>A,p.R1237Q |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144618024C>T,c.3805G>A,p.E1269K |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144618015C>A,c.3814G>T,p.D1272Y |
| FREM3(NM_001168235,FRAS1 related extracellular matrix 3,2139aa) | g.4:144617447T>C,c.4382A>G,p.H1461R |