| 基因名 | 突变 |
|---|---|
| GDF7(NM_182828,growth differentiation factor 7,450aa) | g.2:20870778G>A,c.946G>A,p.G316S |
| GDF7(NM_182828,growth differentiation factor 7,450aa) | g.2:20870706G>C,c.874G>C,p.G292R |
| GDF7(NM_182828,growth differentiation factor 7,450aa) | g.2:20870475G>A,c.643G>A,p.D215N |
| GDF6(NM_001001557,growth differentiation factor 6,455aa) | g.8:97157179G>T,c.980C>A,p.P327H |
| GDF6(NM_001001557,growth differentiation factor 6,455aa) | g.8:97156888T>C,c.1271A>G,p.K424R |
| GDF5(NM_000557,growth differentiation factor 5,501aa) | g.20:34025540C>T,c.169G>A,p.V57I |
| GDF5(NM_000557,growth differentiation factor 5,501aa) | g.20:34025407G>A,c.302C>T,p.P101L |
| GDF5(NM_000557,growth differentiation factor 5,501aa) | g.20:34025350C>T,c.359G>A,p.R120Q |
| GDF5(NM_000557,growth differentiation factor 5,501aa) | g.20:34025321C>T,c.388G>A,p.G130R |
| GDF5(NM_000557,growth differentiation factor 5,501aa) | g.20:34025212G>T,c.497C>A,p.P166H |
| GDF5(NM_000557,growth differentiation factor 5,501aa) | g.20:34022387A>C,c.826T>G,p.S276A |
| GDF5(NM_000557,growth differentiation factor 5,501aa) | g.20:34022260C>G,c.953G>C,p.R318P |
| GDF5(NM_000557,growth differentiation factor 5,501aa) | g.20:34022257C>A,c.956G>T,p.G319V |
| GDF5(NM_000557,growth differentiation factor 5,501aa) | g.20:34022234G>C,c.979C>G,p.L327V |
| GDF5(NM_000557,growth differentiation factor 5,501aa) | g.20:34022085C>A,c.1128G>T,p.Q376H |
| GDF5(NM_000557,growth differentiation factor 5,501aa) | g.20:34021789C>T,c.1424G>A,p.S475N |
| GDF3(NM_020634,growth differentiation factor 3,364aa) | g.12:7842986G>A,c.583C>T,p.R195W |
| GDF3(NM_020634,growth differentiation factor 3,364aa) | g.12:7842934G>A,c.635C>T,p.S212L |
| GDF3(NM_020634,growth differentiation factor 3,364aa) | g.12:7842932C>T,c.637G>A,p.G213R |
| GDF3(NM_020634,growth differentiation factor 3,364aa) | g.12:7842587C>G,c.982G>C,p.V328L |
| GDF2(NM_016204,growth differentiation factor 2,429aa) | g.10:48414516T>A,c.352A>T,p.I118F |
| GDF2(NM_016204,growth differentiation factor 2,429aa) | g.10:48414490G>T,c.378C>A,p.F126L |
| GDF2(NM_016204,growth differentiation factor 2,429aa) | g.10:48414216C>T,c.652G>A,p.D218N |
| GDF2(NM_016204,growth differentiation factor 2,429aa) | g.10:48414092T>C,c.776A>G,p.N259S |
| GDF2(NM_016204,growth differentiation factor 2,429aa) | g.10:48413957G>A,c.911C>T,p.T304M |
| GDF2(NM_016204,growth differentiation factor 2,429aa) | g.10:48413661C>T,c.1207G>A,p.V403I |
| GDF1(NM_001492,growth differentiation factor 1,372aa) | g.19:18980172G>A,c.353C>T,p.A118V |
| GDF1(NM_001492,growth differentiation factor 1,372aa) | g.19:18979434A>G,c.1091T>C,p.M364T |