| 基因名 | 突变 |
|---|---|
| NBN(NM_002485,nibrin,754aa) | g.8:90967646A>G,c.1262T>C,p.L421S |
| NBN(NM_002485,nibrin,754aa) | g.8:90965627C>T,c.1690G>A,p.E564K |
| NBN(NM_002485,nibrin,754aa) | g.8:90965508G>T,c.1809C>A,p.F603L |
| NBN(NM_002485,nibrin,754aa) | g.8:90960054A>G,c.1912T>C,p.S638P |
| NBN(NM_002485,nibrin,754aa) | g.8:90955519T>C,c.2146A>G,p.N716D |
| NBEA(NM_015678,neurobeachin,2946aa) | g.13:36239272G>T,c.8350G>T,p.V2784F |
| NBEA(NM_015678,neurobeachin,2946aa) | g.13:36202269A>G,c.7501A>G,p.I2501V |
| NBEA(NM_015678,neurobeachin,2946aa) | g.13:36158038A>G,c.7039A>G,p.I2347V |
| NBEA(NM_015678,neurobeachin,2946aa) | g.13:36125097C>A,c.6734C>A,p.A2245E |
| NBEA(NM_015678,neurobeachin,2946aa) | g.13:36006474G>A,c.6248G>A,p.R2083H |
| NBEA(NM_015678,neurobeachin,2946aa) | g.13:35751178C>A,c.4600C>A,p.P1534T |
| NBEA(NM_015678,neurobeachin,2946aa) | g.13:35747681A>G,c.4504A>G,p.S1502G |
| NBEA(NM_015678,neurobeachin,2946aa) | g.13:35745410C>T,c.4244C>T,p.T1415M |
| NBEA(NM_015678,neurobeachin,2946aa) | g.13:35734141G>A,c.3833G>A,p.R1278Q |
| NBEA(NM_015678,neurobeachin,2946aa) | g.13:35733945A>G,c.3637A>G,p.T1213A |
| NBEAL2(NM_015175,neurobeachin-like 2,2754aa) | g.3:47050755G>C,c.8210G>C,p.R2737P |
| NBEAL2(NM_015175,neurobeachin-like 2,2754aa) | g.3:47049803C>T,c.7750C>T,p.R2584C |
| NBEAL2(NM_015175,neurobeachin-like 2,2754aa) | g.3:47049615G>A,c.7658G>A,p.G2553E |
| NBEAL2(NM_015175,neurobeachin-like 2,2754aa) | g.3:47047500G>A,c.6866G>A,p.R2289Q |
| NBEAL2(NM_015175,neurobeachin-like 2,2754aa) | g.3:47047109G>A,c.6691G>A,p.G2231S |
| NBEAL2(NM_015175,neurobeachin-like 2,2754aa) | g.3:47046792G>A,c.6541G>A,p.V2181I |
| NBEAL2(NM_015175,neurobeachin-like 2,2754aa) | g.3:47045998G>A,c.6212G>A,p.R2071H |
| NBEAL2(NM_015175,neurobeachin-like 2,2754aa) | g.3:47045846C>T,c.6161C>T,p.S2054F |
| NBEAL2(NM_015175,neurobeachin-like 2,2754aa) | g.3:47045665G>A,c.5980G>A,p.D1994N |
| NBEAL2(NM_015175,neurobeachin-like 2,2754aa) | g.3:47045606G>A,c.5921G>A,p.R1974H |
| NBEAL2(NM_015175,neurobeachin-like 2,2754aa) | g.3:47045588G>A,c.5903G>A,p.R1968H |
| NBEAL2(NM_015175,neurobeachin-like 2,2754aa) | g.3:47044189A>T,c.5356A>T,p.T1786S |
| NBEAL2(NM_015175,neurobeachin-like 2,2754aa) | g.3:47044168C>T,c.5335C>T,p.R1779C |