| 基因名 | 突变 |
|---|---|
| FOXJ2(NM_018416,forkhead box J2,574aa) | g.12:8202092C>T,c.1462C>T,p.R488C |
| FOXJ2(NM_018416,forkhead box J2,574aa) | g.12:8202068G>A,c.1438G>A,p.V480M |
| FOXJ2(NM_018416,forkhead box J2,574aa) | g.12:8200766C>T,c.1106C>T,p.P369L |
| FOXJ2(NM_018416,forkhead box J2,574aa) | g.12:8200721C>T,c.1061C>T,p.A354V |
| FOXJ2(NM_018416,forkhead box J2,574aa) | g.12:8200622A>G,c.962A>G,p.Q321R |
| FOXJ2(NM_018416,forkhead box J2,574aa) | g.12:8200588C>T,c.928C>T,p.P310S |
| FOXJ2(NM_018416,forkhead box J2,574aa) | g.12:8200558_8200560del,c.898_900del,p.300del |
| FOXJ2(NM_018416,forkhead box J2,574aa) | g.12:8197554G>A,c.817G>A,p.G273S |
| FOXJ2(NM_018416,forkhead box J2,574aa) | g.12:8196589C>T,c.520C>T,p.R174W |
| FOXJ2(NM_018416,forkhead box J2,574aa) | g.12:8195312G>A,c.392G>A,p.R131Q |
| FOXJ2(NM_018416,forkhead box J2,574aa) | g.12:8192708C>T,c.280C>T,p.R94C |
| FOXJ2(NM_018416,forkhead box J2,574aa) | g.12:8192571C>T,c.143C>T,p.T48I |
| FOXJ1(NM_001454,forkhead box J1,421aa) | g.17:74133829T>A,c.871A>T,p.T291S |
| FOXJ1(NM_001454,forkhead box J1,421aa) | g.17:74133727C>G,c.973G>C,p.G325R |
| FOXJ1(NM_001454,forkhead box J1,421aa) | g.17:74133685C>T,c.1015G>A,p.A339T |
| FOXJ1(NM_001454,forkhead box J1,421aa) | g.17:74133615G>A,c.1085C>T,p.S362L |
| FOXI2(NM_207426,forkhead box I2,318aa) | g.10:129537162A>G,c.890A>G,p.H297R |
| FOXI2(NM_207426,forkhead box I2,318aa) | g.10:129536992_129536993insGCC,c.720_721insGCC,p.240_241ins1aa |
| FOXI2(NM_207426,forkhead box I2,318aa) | g.10:129535896T>G,c.359T>G,p.L120R |
| FOXI2(NM_207426,forkhead box I2,318aa) | g.10:129535719C>A,c.182C>A,p.P61Q |
| FOXI1(NM_012188,forkhead box I1,378aa) | g.5:169535563A>G,c.1085A>G,p.N362S |
| FOXI1(NM_012188,forkhead box I1,378aa) | g.5:169535496C>G,c.1018C>G,p.P340A |
| FOXI1(NM_012188,forkhead box I1,378aa) | g.5:169535491C>T,c.1013C>T,p.A338V |
| FOXI1(NM_012188,forkhead box I1,378aa) | g.5:169535475G>A,c.997G>A,p.G333S |
| FOXI1(NM_012188,forkhead box I1,378aa) | g.5:169535348_169535349insG,c.870_871insG,p.290fs |
| FOXI1(NM_012188,forkhead box I1,378aa) | g.5:169535194C>T,c.716C>T,p.P239L |
| FOXI1(NM_012188,forkhead box I1,378aa) | g.5:169535155C>T,c.677C>T,p.T226I |
| FOXI1(NM_012188,forkhead box I1,378aa) | g.5:169533269G>C,c.308G>C,p.G103A |