| 基因名 | 突变 |
|---|---|
| FRMD5(NM_032892,FERM domain containing 5,570aa) | g.15:44166570C>T,c.1226G>A,p.R409Q |
| FRMD4B(NM_015123,FERM domain containing 4B,1034aa) | g.3:69299233C>G,c.519G>C,p.E173D |
| FRMD4B(NM_015123,FERM domain containing 4B,1034aa) | g.3:69298387C>T,c.571G>A,p.D191N |
| FRMD4B(NM_015123,FERM domain containing 4B,1034aa) | g.3:69247888C>T,c.914G>A,p.R305H |
| FRMD4B(NM_015123,FERM domain containing 4B,1034aa) | g.3:69245529T>C,c.1111A>G,p.R371G |
| FRMD4B(NM_015123,FERM domain containing 4B,1034aa) | g.3:69245454T>C,c.1186A>G,p.T396A |
| FRMD4B(NM_015123,FERM domain containing 4B,1034aa) | g.3:69244237G>A,c.1424C>T,p.P475L |
| FRMD4B(NM_015123,FERM domain containing 4B,1034aa) | g.3:69242891G>C,c.1622C>G,p.A541G |
| FRMD4B(NM_015123,FERM domain containing 4B,1034aa) | g.3:69242802G>A,c.1711C>T,p.P571S |
| FRMD4B(NM_015123,FERM domain containing 4B,1034aa) | g.3:69230847G>C,c.2054C>G,p.S685C |
| FRMD4B(NM_015123,FERM domain containing 4B,1034aa) | g.3:69230835C>T,c.2066G>A,p.R689H |
| FRMD4B(NM_015123,FERM domain containing 4B,1034aa) | g.3:69230829C>T,c.2072G>A,p.R691Q |
| FRMD4B(NM_015123,FERM domain containing 4B,1034aa) | g.3:69230592T>G,c.2309A>C,p.N770T |
| FRMD4B(NM_015123,FERM domain containing 4B,1034aa) | g.3:69230383G>A,c.2518C>T,p.R840W |
| FRMD4B(NM_015123,FERM domain containing 4B,1034aa) | g.3:69230224C>A,c.2677G>T,p.A893S |
| FRMD4B(NM_015123,FERM domain containing 4B,1034aa) | g.3:69230061G>A,c.2840C>T,p.S947L |
| FRMD4B(NM_015123,FERM domain containing 4B,1034aa) | g.3:69225753G>C,c.2906C>G,p.S969W |
| FRMD4A(NM_018027,FERM domain containing 4A,1039aa) | g.10:13900896C>T,c.62G>A,p.R21Q |
| FRMD4A(NM_018027,FERM domain containing 4A,1039aa) | g.10:13716954C>T,c.1208G>A,p.R403H |
| FRMD4A(NM_018027,FERM domain containing 4A,1039aa) | g.10:13708148G>A,c.1552C>T,p.R518C |
| FRMD4A(NM_018027,FERM domain containing 4A,1039aa) | g.10:13699265G>A,c.2324C>T,p.S775L |
| FRMD4A(NM_018027,FERM domain containing 4A,1039aa) | g.10:13698906G>A,c.2683C>T,p.R895C |
| FRMD3(NM_174938,FERM domain containing 3,597aa) | g.9:86153121G>C,c.26C>G,p.P9R |
| FRMD3(NM_174938,FERM domain containing 3,597aa) | g.9:85926813A>T,c.762T>A,p.H254Q |
| FRMD3(NM_174938,FERM domain containing 3,597aa) | g.9:85863392A>G,c.1235T>C,p.L412S |
| FRMD3(NM_174938,FERM domain containing 3,597aa) | g.9:85863174C>A,c.1453G>T,p.D485Y |
| FRMD3(NM_174938,FERM domain containing 3,597aa) | g.9:85863101G>A,c.1526C>T,p.S509L |
| FRMD3(NM_174938,FERM domain containing 3,597aa) | g.9:85863090C>T,c.1537G>A,p.D513N |