| 基因名 | 突变 |
|---|---|
| FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) | g.15:89803950C>T,c.164C>T,p.P55L |
| FANCI(NM_001113378,Fanconi anemia, complementation group I,1328aa) | g.15:89790891A>G,c.13A>G,p.I5V |
| FANCG(NM_004629,Fanconi anemia, complementation group G,622aa) | g.9:35079502G>A,c.20C>T,p.S7F |
| FANCG(NM_004629,Fanconi anemia, complementation group G,622aa) | g.9:35079467T>C,c.55A>G,p.K19E |
| FANCG(NM_004629,Fanconi anemia, complementation group G,622aa) | g.9:35079445T>C,c.77A>G,p.Q26R |
| FANCG(NM_004629,Fanconi anemia, complementation group G,622aa) | g.9:35078616C>T,c.293G>A,p.R98Q |
| FANCG(NM_004629,Fanconi anemia, complementation group G,622aa) | g.9:35078227G>A,c.421C>T,p.R141C |
| FANCG(NM_004629,Fanconi anemia, complementation group G,622aa) | g.9:35078184C>T,c.464G>A,p.R155H |
| FANCG(NM_004629,Fanconi anemia, complementation group G,622aa) | g.9:35076764C>T,c.881G>A,p.G294E |
| FANCG(NM_004629,Fanconi anemia, complementation group G,622aa) | g.9:35076755G>A,c.890C>T,p.T297I |
| FANCG(NM_004629,Fanconi anemia, complementation group G,622aa) | g.9:35076435G>A,c.1070C>T,p.T357M |
| FANCG(NM_004629,Fanconi anemia, complementation group G,622aa) | g.9:35075969G>A,c.1133C>T,p.S378L |
| FANCG(NM_004629,Fanconi anemia, complementation group G,622aa) | g.9:35075022C>T,c.1538G>A,p.R513Q |
| FANCG(NM_004629,Fanconi anemia, complementation group G,622aa) | g.9:35074166G>A,c.1808C>T,p.S603F |
| FANCF(NM_022725,Fanconi anemia, complementation group F,374aa) | g.11:22647208C>G,c.149G>C,p.R50P |
| FANCF(NM_022725,Fanconi anemia, complementation group F,374aa) | g.11:22647008G>T,c.349C>A,p.P117T |
| FANCF(NM_022725,Fanconi anemia, complementation group F,374aa) | g.11:22646984C>T,c.373G>A,p.D125N |
| FANCF(NM_022725,Fanconi anemia, complementation group F,374aa) | g.11:22646972G>C,c.385C>G,p.L129V |
| FANCF(NM_022725,Fanconi anemia, complementation group F,374aa) | g.11:22646800G>A,c.557C>T,p.A186V |
| FANCF(NM_022725,Fanconi anemia, complementation group F,374aa) | g.11:22646532C>T,c.825G>A,p.L275L |
| FANCF(NM_022725,Fanconi anemia, complementation group F,374aa) | g.11:22646398G>A,c.959C>T,p.P320L |
| FANCE(NM_021922,Fanconi anemia, complementation group E,536aa) | g.6:35430686G>A,c.1504G>A,p.A502T |
| FANCE(NM_021922,Fanconi anemia, complementation group E,536aa) | g.6:35428345C>T,c.1333C>T,p.P445S |
| FANCE(NM_021922,Fanconi anemia, complementation group E,536aa) | g.6:35426132G>A,c.1028G>A,p.R343Q |
| FANCE(NM_021922,Fanconi anemia, complementation group E,536aa) | g.6:35425721C>A,c.929C>A,p.P310Q |
| FANCE(NM_021922,Fanconi anemia, complementation group E,536aa) | g.6:35423886C>T,c.611C>T,p.S204L |
| FANCE(NM_021922,Fanconi anemia, complementation group E,536aa) | g.6:35423588G>A,c.313G>A,p.V105I |
| FANCE(NM_021922,Fanconi anemia, complementation group E,536aa) | g.6:35423541G>T,c.266G>T,p.R89L |