| 基因名 | 突变 |
|---|---|
| FAM168B(NM_001009993,family with sequence similarity 168, member B,195aa) | g.2:131810487G>A,c.577C>T,p.P193S |
| FAM168A(NM_015159,family with sequence similarity 168, member A,235aa) | g.11:73120595C>T,c.532G>A,p.A178T |
| FAM167B(NM_032648,family with sequence similarity 167, member B,163aa) | g.1:32714006G>C,c.296G>C,p.G99A |
| FAM167A(NM_053279,family with sequence similarity 167, member A,214aa) | g.8:11301886C>A,c.35G>T,p.G12V |
| FAM167A(NM_053279,family with sequence similarity 167, member A,214aa) | g.8:11301871G>A,c.50C>T,p.A17V |
| FAM167A(NM_053279,family with sequence similarity 167, member A,214aa) | g.8:11301865G>T,c.56C>A,p.A19E |
| FAM167A(NM_053279,family with sequence similarity 167, member A,214aa) | g.8:11301753A>C,c.168T>G,p.H56Q |
| FAM167A(NM_053279,family with sequence similarity 167, member A,214aa) | g.8:11301739G>A,c.182C>T,p.P61L |
| FAM167A(NM_053279,family with sequence similarity 167, member A,214aa) | g.8:11301733G>A,c.188C>T,p.P63L |
| FAM167A(NM_053279,family with sequence similarity 167, member A,214aa) | g.8:11301695G>A,c.226C>T,p.R76C |
| FAM167A(NM_053279,family with sequence similarity 167, member A,214aa) | g.8:11301680G>T,c.241C>A,p.P81T |
| FAM167A(NM_053279,family with sequence similarity 167, member A,214aa) | g.8:11301601G>C,c.320C>G,p.T107S |
| FAM166B(NM_001099951,family with sequence similarity 166, member B,216aa) | g.9:35563361G>A,c.88C>T,p.R30W |
| FAM166B(NM_001099951,family with sequence similarity 166, member B,216aa) | g.9:35563360C>T,c.89G>A,p.R30Q |
| FAM166B(NM_001099951,family with sequence similarity 166, member B,216aa) | g.9:35563277G>A,c.172C>T,p.R58C |
| FAM166B(NM_001099951,family with sequence similarity 166, member B,216aa) | g.9:35563255C>T,c.194G>A,p.R65Q |
| FAM166B(NM_001099951,family with sequence similarity 166, member B,216aa) | g.9:35563021C>T,c.343G>A,p.E115K |
| FAM166A(NM_001001710,family with sequence similarity 166, member A,317aa) | g.9:140140288G>A,c.74C>T,p.P25L |
| FAM166A(NM_001001710,family with sequence similarity 166, member A,317aa) | g.9:140140246G>A,c.116C>T,p.T39M |
| FAM166A(NM_001001710,family with sequence similarity 166, member A,317aa) | g.9:140140141G>A,c.221C>T,p.P74L |
| FAM166A(NM_001001710,family with sequence similarity 166, member A,317aa) | g.9:140140117G>A,c.245C>T,p.T82M |
| FAM166A(NM_001001710,family with sequence similarity 166, member A,317aa) | g.9:140140111G>A,c.251C>T,p.P84L |
| FAM166A(NM_001001710,family with sequence similarity 166, member A,317aa) | g.9:140140000G>A,c.281C>T,p.P94L |
| FAM166A(NM_001001710,family with sequence similarity 166, member A,317aa) | g.9:140139911T>G,c.370A>C,p.I124L |
| FAM166A(NM_001001710,family with sequence similarity 166, member A,317aa) | g.9:140139794C>T,c.487G>A,p.A163T |
| FAM166A(NM_001001710,family with sequence similarity 166, member A,317aa) | g.9:140139757G>A,c.522+2C>T,p.174Donor |
| FAM166A(NM_001001710,family with sequence similarity 166, member A,317aa) | g.9:140139591C>T,c.602G>A,p.R201Q |
| FAM166A(NM_001001710,family with sequence similarity 166, member A,317aa) | g.9:140139560G>C,c.633C>G,p.I211M |