| 基因名 | 突变 |
|---|---|
| FAM46B(NM_052943,family with sequence similarity 46, member B,425aa) | g.1:27332637T>G,c.1076A>C,p.N359T |
| FAM46B(NM_052943,family with sequence similarity 46, member B,425aa) | g.1:27332466T>C,c.1247A>G,p.H416R |
| FAM46A(NM_017633,family with sequence similarity 46, member A,442aa) | g.6:82461723C>T,c.136G>A,p.G46S |
| FAM46A(NM_017633,family with sequence similarity 46, member A,442aa) | g.6:82461465C>G,c.394G>C,p.D132H |
| FAM45A(NM_207009,family with sequence similarity 45, member A,357aa) | g.10:120883045A>G,c.658A>G,p.N220D |
| FAM45A(NM_207009,family with sequence similarity 45, member A,357aa) | g.10:120863708C>G,c.54C>G,p.I18M |
| FAM43B(NM_207334,family with sequence similarity 43, member B,329aa) | g.1:20879476T>G,c.10T>G,p.W4G |
| FAM43A(NM_153690,family with sequence similarity 43, member A,423aa) | g.3:194408538G>A,c.983G>A,p.G328D |
| FAM3D(NM_138805,family with sequence similarity 3, member D,224aa) | g.3:58639419G>A,c.103C>T,p.R35C |
| FAM3D(NM_138805,family with sequence similarity 3, member D,224aa) | g.3:58639418C>T,c.104G>A,p.R35H |
| FAM3D(NM_138805,family with sequence similarity 3, member D,224aa) | g.3:58631321G>A,c.178C>T,p.P60S |
| FAM3D(NM_138805,family with sequence similarity 3, member D,224aa) | g.3:58631270C>T,c.229G>A,p.V77I |
| FAM3D(NM_138805,family with sequence similarity 3, member D,224aa) | g.3:58625875C>A,c.352G>T,p.A118S |
| FAM3B(NM_058186,family with sequence similarity 3, member B,235aa) | g.21:42729117G>A,c.701G>A,p.R234Q |
| FAM3B(NM_058186,family with sequence similarity 3, member B,235aa) | g.21:42729072G>A,c.656G>A,p.G219D |
| FAM3B(NM_058186,family with sequence similarity 3, member B,235aa) | g.21:42729035A>T,c.619A>T,p.I207F |
| FAM3B(NM_058186,family with sequence similarity 3, member B,235aa) | g.21:42720579G>A,c.546G>A,p.M182I |
| FAM3B(NM_058186,family with sequence similarity 3, member B,235aa) | g.21:42694870G>A,c.40G>A,p.V14M |
| FAM3A(NM_001282311,family with sequence similarity 3, member A,244aa) | g.X:153736923G>A,c.199C>T,p.R67W |
| FAM35A(NM_019054,family with sequence similarity 35, member A,835aa) | g.10:88950309G>A,c.2377G>A,p.A793T |
| FAM35A(NM_019054,family with sequence similarity 35, member A,835aa) | g.10:88946889G>A,c.2240G>A,p.R747H |
| FAM35A(NM_019054,family with sequence similarity 35, member A,835aa) | g.10:88939898C>T,c.2030C>T,p.A677V |
| FAM35A(NM_019054,family with sequence similarity 35, member A,835aa) | g.10:88930650G>A,c.1882G>A,p.E628K |
| FAM35A(NM_019054,family with sequence similarity 35, member A,835aa) | g.10:88930249A>T,c.1648A>T,p.S550C |
| FAM35A(NM_019054,family with sequence similarity 35, member A,835aa) | g.10:88912488A>G,c.1377A>G,p.I459M |
| FAM35A(NM_019054,family with sequence similarity 35, member A,835aa) | g.10:88911896G>A,c.785G>A,p.R262Q |
| FAM35A(NM_019054,family with sequence similarity 35, member A,835aa) | g.10:88911847A>G,c.736A>G,p.I246V |
| FAM35A(NM_019054,family with sequence similarity 35, member A,835aa) | g.10:88911841A>G,c.730A>G,p.S244G |