| 基因名 | 突变 |
|---|---|
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37707502C>G,c.191C>G,p.T64S |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37707441G>A,c.130G>A,p.A44T |
| FRMPD1(NM_014907,FERM and PDZ domain containing 1,1578aa) | g.9:37692654A>C,c.16A>C,p.T6P |
| FRMD8(NM_031904,FERM domain containing 8,464aa) | g.11:65178764G>A,c.1328G>A,p.R443Q |
| FRMD8(NM_031904,FERM domain containing 8,464aa) | g.11:65172461C>T,c.1198C>T,p.R400C |
| FRMD8(NM_031904,FERM domain containing 8,464aa) | g.11:65172429C>T,c.1166C>T,p.S389L |
| FRMD8(NM_031904,FERM domain containing 8,464aa) | g.11:65156865C>T,c.119C>T,p.T40M |
| FRMD8(NM_031904,FERM domain containing 8,464aa) | g.11:65156835C>G,c.89C>G,p.A30G |
| FRMD8(NM_031904,FERM domain containing 8,464aa) | g.11:65154560A>C,c.53A>C,p.H18P |
| FRMD7(NM_194277,FERM domain containing 7,714aa) | g.X:131216454G>A,c.842C>T,p.S281L |
| FRMD7(NM_194277,FERM domain containing 7,714aa) | g.X:131214263C>T,c.937G>A,p.G313R |
| FRMD7(NM_194277,FERM domain containing 7,714aa) | g.X:131212642C>T,c.1403G>A,p.R468H |
| FRMD7(NM_194277,FERM domain containing 7,714aa) | g.X:131212572C>A,c.1473G>T,p.M491I |
| FRMD7(NM_194277,FERM domain containing 7,714aa) | g.X:131212564T>C,c.1481A>G,p.Q494R |
| FRMD7(NM_194277,FERM domain containing 7,714aa) | g.X:131212552T>A,c.1493A>T,p.Y498F |
| FRMD7(NM_194277,FERM domain containing 7,714aa) | g.X:131212370C>T,c.1675G>A,p.G559S |
| FRMD6(NM_001042481,FERM domain containing 6,614aa) | g.14:52194571A>T,c.1669A>T,p.T557S |
| FRMD6(NM_001042481,FERM domain containing 6,614aa) | g.14:52192560G>A,c.1532G>A,p.R511H |
| FRMD6(NM_001042481,FERM domain containing 6,614aa) | g.14:52188771A>C,c.1441A>C,p.M481L |
| FRMD6(NM_001042481,FERM domain containing 6,614aa) | g.14:52186895C>T,c.1123C>T,p.R375C |
| FRMD6(NM_001042481,FERM domain containing 6,614aa) | g.14:52182214G>A,c.997G>A,p.E333K |
| FRMD6(NM_001042481,FERM domain containing 6,614aa) | g.14:52174899A>G,c.638A>G,p.K213R |
| FRMD6(NM_001042481,FERM domain containing 6,614aa) | g.14:52171538G>A,c.419G>A,p.R140Q |
| FRMD6(NM_001042481,FERM domain containing 6,614aa) | g.14:52164888T>G,c.128T>G,p.V43G |
| FRMD5(NM_032892,FERM domain containing 5,570aa) | g.15:44198035G>A,c.542C>T,p.T181M |
| FRMD5(NM_032892,FERM domain containing 5,570aa) | g.15:44184197C>T,c.710G>A,p.R237K |
| FRMD5(NM_032892,FERM domain containing 5,570aa) | g.15:44175987C>T,c.1049G>A,p.R350Q |
| FRMD5(NM_032892,FERM domain containing 5,570aa) | g.15:44166618C>T,c.1178G>A,p.R393H |