| 基因名 | 突变 |
|---|---|
| FANCC(NM_000136,Fanconi anemia, complementation group C,558aa) | g.9:97934359C>T,c.416G>A,p.G139E |
| FANCC(NM_000136,Fanconi anemia, complementation group C,558aa) | g.9:97912307T>A,c.584A>T,p.D195V |
| FANCC(NM_000136,Fanconi anemia, complementation group C,558aa) | g.9:97912259G>C,c.632C>G,p.P211R |
| FANCC(NM_000136,Fanconi anemia, complementation group C,558aa) | g.9:97887430T>C,c.934A>G,p.I312V |
| FANCC(NM_000136,Fanconi anemia, complementation group C,558aa) | g.9:97887391C>T,c.973G>A,p.A325T |
| FANCC(NM_000136,Fanconi anemia, complementation group C,558aa) | g.9:97879669G>A,c.1000C>T,p.R334W |
| FANCC(NM_000136,Fanconi anemia, complementation group C,558aa) | g.9:97869536C>T,c.1345G>A,p.V449M |
| FANCC(NM_000136,Fanconi anemia, complementation group C,558aa) | g.9:97869475G>A,c.1406C>T,p.T469M |
| FANCC(NM_000136,Fanconi anemia, complementation group C,558aa) | g.9:97864071C>T,c.1595G>A,p.R532K |
| FANCB(NM_001018113,Fanconi anemia, complementation group B,859aa) | g.X:14877404C>T,c.1004G>A,p.G335E |
| FANCB(NM_001018113,Fanconi anemia, complementation group B,859aa) | g.X:14877329G>A,c.1079C>T,p.T360M |
| FANCB(NM_001018113,Fanconi anemia, complementation group B,859aa) | g.X:14868629C>A,c.1494G>T,p.K498N |
| FANCB(NM_001018113,Fanconi anemia, complementation group B,859aa) | g.X:14862803T>C,c.1987A>G,p.T663A |
| FANCB(NM_001018113,Fanconi anemia, complementation group B,859aa) | g.X:14862794C>T,c.1996G>A,p.G666S |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89883007A>T,c.17T>A,p.V6D |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89883000G>C,c.24C>G,p.N8K |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89882965C>T,c.59G>A,p.R20K |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89881002T>C,c.209A>G,p.K70R |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89874756G>A,c.542C>T,p.A181V |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89869704T>C,c.755A>G,p.D252G |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89866043T>C,c.796A>G,p.T266A |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89862363G>C,c.957C>G,p.F319L |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89858916G>A,c.1046C>T,p.A349V |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89857935G>A,c.1235C>T,p.A412V |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89857839G>A,c.1331C>T,p.A444V |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89849480C>T,c.1501G>A,p.G501S |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89846358C>A,c.1634G>T,p.S545I |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89846317C>T,c.1675G>A,p.E559K |