
| 基因名 | 突变 |
|---|---|
| FAM81B(NM_152548,family with sequence similarity 81, member B,452aa) | g.5:94727180del,c.87del,p.29fs |
| FAM81B(NM_152548,family with sequence similarity 81, member B,452aa) | g.5:94727157del,c.64del,p.22fs |
| FAM81A(NM_152450,family with sequence similarity 81, member A,368aa) | g.15:59813464G>A,c.994G>A,p.V332I |
| FAM81A(NM_152450,family with sequence similarity 81, member A,368aa) | g.15:59808974G>A,c.917G>A,p.R306Q |
| FAM81A(NM_152450,family with sequence similarity 81, member A,368aa) | g.15:59806535G>A,c.698G>A,p.R233Q |
| FAM81A(NM_152450,family with sequence similarity 81, member A,368aa) | g.15:59806496G>T,c.659G>T,p.G220V |
| FAM81A(NM_152450,family with sequence similarity 81, member A,368aa) | g.15:59801138G>A,c.620G>A,p.S207N |
| FAM78A(NM_033387,family with sequence similarity 78, member A,283aa) | g.9:134136393C>T,c.668G>A,p.R223Q |
| FAM78A(NM_033387,family with sequence similarity 78, member A,283aa) | g.9:134136366C>T,c.695G>A,p.R232Q |
| FAM76B(NM_144664,family with sequence similarity 76, member B,339aa) | g.11:95519380C>T,c.266G>A,p.R89H |
| FAM76A(NM_001143912,family with sequence similarity 76, member A,341aa) | g.1:28071229A>G,c.521A>G,p.K174R |
| FAM76A(NM_001143912,family with sequence similarity 76, member A,341aa) | g.1:28060600G>A,c.362G>A,p.R121H |
| FAM73B(NM_032809,family with sequence similarity 73, member B,593aa) | g.9:131832212C>T,c.1543C>T,p.P515S |
| FAM73B(NM_032809,family with sequence similarity 73, member B,593aa) | g.9:131830567G>A,c.1360G>A,p.A454T |
| FAM73B(NM_032809,family with sequence similarity 73, member B,593aa) | g.9:131825843G>A,c.1103G>A,p.S368N |
| FAM73B(NM_032809,family with sequence similarity 73, member B,593aa) | g.9:131821484C>T,c.727C>T,p.R243C |
| FAM73B(NM_032809,family with sequence similarity 73, member B,593aa) | g.9:131812208G>A,c.641G>A,p.R214Q |
| FAM73B(NM_032809,family with sequence similarity 73, member B,593aa) | g.9:131812201G>A,c.634G>A,p.G212S |
| FAM73B(NM_032809,family with sequence similarity 73, member B,593aa) | g.9:131811747G>A,c.508G>A,p.D170N |
| FAM73B(NM_032809,family with sequence similarity 73, member B,593aa) | g.9:131811694C>T,c.455C>T,p.A152V |
| FAM73B(NM_032809,family with sequence similarity 73, member B,593aa) | g.9:131804785T>C,c.299T>C,p.V100A |
| FAM73B(NM_032809,family with sequence similarity 73, member B,593aa) | g.9:131804718G>A,c.232G>A,p.E78K |
| FAM73B(NM_032809,family with sequence similarity 73, member B,593aa) | g.9:131804638C>T,c.152C>T,p.T51M |
| FAM73A(NM_001270384,family with sequence similarity 73, member A,633aa) | g.1:78326946T>C,c.1313T>C,p.I438T |
| FAM73A(NM_001270384,family with sequence similarity 73, member A,633aa) | g.1:78325752A>G,c.1216A>G,p.I406V |
| FAM73A(NM_001270384,family with sequence similarity 73, member A,633aa) | g.1:78267157A>C,c.337A>C,p.I113L |
| FAM73A(NM_001270384,family with sequence similarity 73, member A,633aa) | g.1:78267029C>T,c.209C>T,p.P70L |
| FAM73A(NM_001270384,family with sequence similarity 73, member A,633aa) | g.1:78248953G>A,c.112G>A,p.V38I |