| 基因名 | 突变 |
|---|---|
| FAM184A(NM_024581,family with sequence similarity 184, member A,1140aa) | g.6:119327632C>T,c.1795G>A,p.D599N |
| FAM184A(NM_024581,family with sequence similarity 184, member A,1140aa) | g.6:119297143T>A,c.2522A>T,p.H841L |
| FAM184A(NM_024581,family with sequence similarity 184, member A,1140aa) | g.6:119295639T>C,c.2869A>G,p.K957E |
| FAM184A(NM_024581,family with sequence similarity 184, member A,1140aa) | g.6:119295592C>T,c.2915+1G>A,p.972Donor |
| FAM184A(NM_024581,family with sequence similarity 184, member A,1140aa) | g.6:119282932A>T,c.3335T>A,p.F1112Y |
| FAM183A(NM_001101376,family with sequence similarity 183, member A,134aa) | g.1:43621973C>T,c.394C>T,p.H132Y |
| FAM183A(NM_001101376,family with sequence similarity 183, member A,134aa) | g.1:43621877A>G,c.298A>G,p.I100V |
| FAM181B(NM_175885,family with sequence similarity 181, member B,426aa) | g.11:82444668C>G,c.104G>C,p.G35A |
| FAM181B(NM_175885,family with sequence similarity 181, member B,426aa) | g.11:82444216C>G,c.556G>C,p.V186L |
| FAM181B(NM_175885,family with sequence similarity 181, member B,426aa) | g.11:82444021T>G,c.751A>C,p.S251R |
| FAM181B(NM_175885,family with sequence similarity 181, member B,426aa) | g.11:82443955C>T,c.817G>A,p.G273S |
| FAM181B(NM_175885,family with sequence similarity 181, member B,426aa) | g.11:82443754G>A,c.1018C>T,p.P340S |
| FAM181B(NM_175885,family with sequence similarity 181, member B,426aa) | g.11:82443727G>A,c.1045C>T,p.P349S |
| FAM181B(NM_175885,family with sequence similarity 181, member B,426aa) | g.11:82443720C>T,c.1052G>A,p.S351N |
| FAM181B(NM_175885,family with sequence similarity 181, member B,426aa) | g.11:82443672C>G,c.1100G>C,p.R367P |
| FAM181A(NM_138344,family with sequence similarity 181, member A,354aa) | g.14:94395305C>T,c.860C>T,p.P287L |
| FAM181A(NM_138344,family with sequence similarity 181, member A,354aa) | g.14:94394818G>T,c.373G>T,p.A125S |
| FAM181A(NM_138344,family with sequence similarity 181, member A,354aa) | g.14:94394800C>T,c.355C>T,p.R119W |
| FAM181A(NM_138344,family with sequence similarity 181, member A,354aa) | g.14:94394792G>A,c.347G>A,p.R116Q |
| FAM181A(NM_138344,family with sequence similarity 181, member A,354aa) | g.14:94394641G>A,c.196G>A,p.D66N |
| FAM181A(NM_138344,family with sequence similarity 181, member A,354aa) | g.14:94391705A>T,c.88A>T,p.T30S |
| FAM181A(NM_138344,family with sequence similarity 181, member A,354aa) | g.14:94391699G>A,c.82G>A,p.A28T |
| FAM180B(NM_001164379,family with sequence similarity 180, member B,183aa) | g.11:47609867G>A,c.433G>A,p.A145T |
| FAM180B(NM_001164379,family with sequence similarity 180, member B,183aa) | g.11:47609856G>A,c.422G>A,p.R141Q |
| FAM180A(NM_205855,family with sequence similarity 180, member A,173aa) | g.7:135419013C>T,c.232G>A,p.E78K |
| FAM180A(NM_205855,family with sequence similarity 180, member A,173aa) | g.7:135418959C>T,c.286G>A,p.V96I |
| FAM180A(NM_205855,family with sequence similarity 180, member A,173aa) | g.7:135418881C>T,c.364G>A,p.D122N |
| FAM180A(NM_205855,family with sequence similarity 180, member A,173aa) | g.7:135418796T>G,c.449A>C,p.Q150P |