| 基因名 | 突变 |
|---|---|
| FAM174B(NM_207446,family with sequence similarity 174, member B,159aa) | g.15:93198679_93198684del,c.206_211del,p.69_71del |
| FAM174B(NM_207446,family with sequence similarity 174, member B,159aa) | g.15:93173573G>A,c.347C>T,p.S116L |
| FAM174B(NM_207446,family with sequence similarity 174, member B,159aa) | g.15:93173517G>A,c.403C>T,p.R135X |
| FAM174A(NM_198507,family with sequence similarity 174, member A,190aa) | g.5:99897865C>T,c.542C>T,p.T181M |
| FAM174A(NM_198507,family with sequence similarity 174, member A,190aa) | g.5:99871518A>G,c.284A>G,p.D95G |
| FAM174A(NM_198507,family with sequence similarity 174, member A,190aa) | g.5:99871359G>A,c.125G>A,p.G42D |
| FAM173B(NM_199133,family with sequence similarity 173, member B,233aa) | g.5:10239261G>A,c.224C>T,p.T75M |
| FAM173B(NM_199133,family with sequence similarity 173, member B,233aa) | g.5:10236714G>A,c.320C>T,p.A107V |
| FAM173B(NM_199133,family with sequence similarity 173, member B,233aa) | g.5:10236693A>G,c.341T>C,p.V114A |
| FAM173B(NM_199133,family with sequence similarity 173, member B,233aa) | g.5:10236649G>A,c.385C>T,p.R129C |
| FAM173B(NM_199133,family with sequence similarity 173, member B,233aa) | g.5:10236627T>C,c.407A>G,p.H136R |
| FAM173B(NM_199133,family with sequence similarity 173, member B,233aa) | g.5:10236600T>C,c.434A>G,p.D145G |
| FAM173B(NM_199133,family with sequence similarity 173, member B,233aa) | g.5:10235337C>G,c.481G>C,p.G161R |
| FAM173B(NM_199133,family with sequence similarity 173, member B,233aa) | g.5:10227711G>A,c.544C>T,p.R182X |
| FAM173B(NM_199133,family with sequence similarity 173, member B,233aa) | g.5:10227648T>C,c.607A>G,p.I203V |
| FAM173A(NM_023933,family with sequence similarity 173, member A,235aa) | g.16:772313C>G,c.464C>G,p.P155R |
| FAM173A(NM_023933,family with sequence similarity 173, member A,235aa) | g.16:771846G>A,c.313G>A,p.E105K |
| FAM172A(NM_032042,family with sequence similarity 172, member A,416aa) | g.5:93410450T>C,c.7A>G,p.I3V |
| FAM172A(NM_032042,family with sequence similarity 172, member A,416aa) | g.5:93294657C>T,c.392G>A,p.S131N |
| FAM172A(NM_032042,family with sequence similarity 172, member A,416aa) | g.5:93217286T>C,c.676A>G,p.K226E |
| FAM172A(NM_032042,family with sequence similarity 172, member A,416aa) | g.5:93159946T>C,c.814A>G,p.I272V |
| FAM171B(NM_177454,family with sequence similarity 171, member B,826aa) | g.2:187627230G>A,c.2161G>A,p.E721K |
| FAM171B(NM_177454,family with sequence similarity 171, member B,826aa) | g.2:187626817C>T,c.1748C>T,p.T583M |
| FAM171B(NM_177454,family with sequence similarity 171, member B,826aa) | g.2:187626544A>C,c.1475A>C,p.K492T |
| FAM171B(NM_177454,family with sequence similarity 171, member B,826aa) | g.2:187618768G>A,c.1004G>A,p.G335E |
| FAM171B(NM_177454,family with sequence similarity 171, member B,826aa) | g.2:187615999G>A,c.863G>A,p.R288H |
| FAM171B(NM_177454,family with sequence similarity 171, member B,826aa) | g.2:187605000G>A,c.284G>A,p.R95H |
| FAM171B(NM_177454,family with sequence similarity 171, member B,826aa) | g.2:187559081G>A,c.181G>A,p.E61K |