| 基因名 | 突变 |
|---|---|
| FAM83B(NM_001010872,family with sequence similarity 83, member B,1011aa) | g.6:54805402G>A,c.1633G>A,p.V545I |
| FAM83B(NM_001010872,family with sequence similarity 83, member B,1011aa) | g.6:54805295C>T,c.1526C>T,p.P509L |
| FAM83B(NM_001010872,family with sequence similarity 83, member B,1011aa) | g.6:54805279C>T,c.1510C>T,p.H504Y |
| FAM83B(NM_001010872,family with sequence similarity 83, member B,1011aa) | g.6:54805074C>G,c.1305C>G,p.S435R |
| FAM83B(NM_001010872,family with sequence similarity 83, member B,1011aa) | g.6:54805057C>T,c.1288C>T,p.R430W |
| FAM83B(NM_001010872,family with sequence similarity 83, member B,1011aa) | g.6:54804998A>G,c.1229A>G,p.N410S |
| FAM83B(NM_001010872,family with sequence similarity 83, member B,1011aa) | g.6:54804758A>G,c.989A>G,p.H330R |
| FAM83B(NM_001010872,family with sequence similarity 83, member B,1011aa) | g.6:54804653A>C,c.884A>C,p.K295T |
| FAM83B(NM_001010872,family with sequence similarity 83, member B,1011aa) | g.6:54792319G>A,c.623G>A,p.R208Q |
| FAM83A(NM_032899,family with sequence similarity 83, member A,434aa) | g.8:124219863C>A,c.1240C>A,p.L414M |
| FAM83A(NM_032899,family with sequence similarity 83, member A,434aa) | g.8:124219662C>T,c.1039C>T,p.R347X |
| FAM83A(NM_032899,family with sequence similarity 83, member A,434aa) | g.8:124219469T>G,c.846T>G,p.F282L |
| FAM83A(NM_032899,family with sequence similarity 83, member A,434aa) | g.8:124206388G>T,c.773G>T,p.S258I |
| FAM83A(NM_032899,family with sequence similarity 83, member A,434aa) | g.8:124206324G>A,c.709G>A,p.A237T |
| FAM83A(NM_032899,family with sequence similarity 83, member A,434aa) | g.8:124195403G>A,c.307G>A,p.G103S |
| FAM83A(NM_032899,family with sequence similarity 83, member A,434aa) | g.8:124195352G>T,c.256G>T,p.G86X |
| FAM83A(NM_032899,family with sequence similarity 83, member A,434aa) | g.8:124195337C>G,c.241C>G,p.P81A |
| FAM83A(NM_032899,family with sequence similarity 83, member A,434aa) | g.8:124195140A>G,c.44A>G,p.E15G |
| FAM81B(NM_152548,family with sequence similarity 81, member B,452aa) | g.5:94785958G>A,c.1331G>A,p.R444H |
| FAM81B(NM_152548,family with sequence similarity 81, member B,452aa) | g.5:94784082T>C,c.1139T>C,p.M380T |
| FAM81B(NM_152548,family with sequence similarity 81, member B,452aa) | g.5:94772540C>T,c.823C>T,p.P275S |
| FAM81B(NM_152548,family with sequence similarity 81, member B,452aa) | g.5:94764366G>A,c.716G>A,p.R239Q |
| FAM81B(NM_152548,family with sequence similarity 81, member B,452aa) | g.5:94764354G>A,c.704G>A,p.R235K |
| FAM81B(NM_152548,family with sequence similarity 81, member B,452aa) | g.5:94756010C>T,c.560C>T,p.A187V |
| FAM81B(NM_152548,family with sequence similarity 81, member B,452aa) | g.5:94749787C>T,c.430C>T,p.Q144X |
| FAM81B(NM_152548,family with sequence similarity 81, member B,452aa) | g.5:94749731T>C,c.374T>C,p.I125T |
| FAM81B(NM_152548,family with sequence similarity 81, member B,452aa) | g.5:94749724C>T,c.367C>T,p.R123C |
| FAM81B(NM_152548,family with sequence similarity 81, member B,452aa) | g.5:94728531C>T,c.158C>T,p.A53V |