| 基因名 | 突变 |
|---|---|
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33876692G>A,c.583C>T,p.R195W |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33876688C>T,c.587G>A,p.R196H |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33875719C>T,c.863G>A,p.R288H |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33875714C>T,c.868G>A,p.V290M |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33875698C>A,c.884G>T,p.R295L |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33875492C>T,c.1090G>A,p.A364T |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33875429G>A,c.1153C>T,p.R385C |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33875428C>T,c.1154G>A,p.R385H |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33875426G>A,c.1156C>T,p.R386C |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33875369A>G,c.1213T>C,p.S405P |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33875240G>A,c.1342C>T,p.R448C |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33875003C>A,c.1579G>T,p.V527F |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33874994T>C,c.1588A>G,p.N530D |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33874784A>G,c.1798T>C,p.Y600H |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33874720C>T,c.1862G>A,p.R621Q |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33874703G>A,c.1879C>T,p.R627W |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33874649G>A,c.1933C>T,p.R645C |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33874600C>T,c.1982G>A,p.R661H |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33874568G>A,c.2014C>T,p.R672W |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33874474C>A,c.2108G>T,p.G703V |
| FAM83C(NM_178468,family with sequence similarity 83, member C,747aa) | g.20:33874346C>G,c.2236G>C,p.E746Q |
| FAM83B(NM_001010872,family with sequence similarity 83, member B,1011aa) | g.6:54806758C>T,c.2989C>T,p.R997X |
| FAM83B(NM_001010872,family with sequence similarity 83, member B,1011aa) | g.6:54806489C>A,c.2720C>A,p.T907N |
| FAM83B(NM_001010872,family with sequence similarity 83, member B,1011aa) | g.6:54806263C>T,c.2494C>T,p.H832Y |
| FAM83B(NM_001010872,family with sequence similarity 83, member B,1011aa) | g.6:54806060C>A,c.2291C>A,p.S764Y |
| FAM83B(NM_001010872,family with sequence similarity 83, member B,1011aa) | g.6:54805736C>T,c.1967C>T,p.T656I |
| FAM83B(NM_001010872,family with sequence similarity 83, member B,1011aa) | g.6:54805696G>C,c.1927G>C,p.G643R |
| FAM83B(NM_001010872,family with sequence similarity 83, member B,1011aa) | g.6:54805688A>C,c.1919A>C,p.K640T |