| 基因名 | 突变 |
|---|---|
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89842176C>G,c.1874G>C,p.C625S |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89842161T>A,c.1889A>T,p.E630V |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89839791A>C,c.1902T>G,p.D634E |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89839766G>C,c.1927C>G,p.P643A |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89838216G>A,c.2021C>T,p.S674L |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89838157C>T,c.2080G>A,p.D694N |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89838136T>C,c.2101A>G,p.K701E |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89838086C>A,c.2151G>T,p.M717I |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89836329G>A,c.2420C>T,p.A807V |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89836323C>T,c.2426G>A,p.G809D |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89836317C>T,c.2432G>A,p.G811D |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89833576G>C,c.2574C>G,p.S858R |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89818581G>A,c.3031C>T,p.R1011C |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89816196T>C,c.3181A>G,p.S1061G |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89815152G>A,c.3263C>T,p.S1088F |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89813093G>C,c.3412C>G,p.L1138V |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89813078G>C,c.3427C>G,p.L1143V |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89811455C>T,c.3538G>A,p.V1180M |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89811443G>A,c.3550C>T,p.R1184W |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89806477C>T,c.3859G>A,p.V1287I |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89805914T>C,c.3982A>G,p.T1328A |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89805672C>T,c.4036G>A,p.A1346T |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89805325G>A,c.4225C>T,p.R1409W |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89805318G>A,c.4232C>T,p.P1411L |
| FANCA(NM_000135,Fanconi anemia, complementation group A,1455aa) | g.16:89805301G>C,c.4249C>G,p.H1417D |
| FAN1(NM_014967,FANCD2/FANCI-associated nuclease 1,1017aa) | g.15:31221574C>T,c.2761C>T,p.R921C |
| FAN1(NM_014967,FANCD2/FANCI-associated nuclease 1,1017aa) | g.15:31221493C>T,c.2680C>T,p.P894S |
| FAN1(NM_014967,FANCD2/FANCI-associated nuclease 1,1017aa) | g.15:31218023G>A,c.2369G>A,p.R790H |