| 基因名 | 突变 |
|---|---|
| INPP4A(NM_001134224,inositol polyphosphate-4-phosphatase, type I, 107kDa,977aa) | g.2:99149939C>T,c.251C>T,p.A84V |
| INPP1(NM_001128928,inositol polyphosphate-1-phosphatase,399aa) | g.2:191235991G>A,c.1063G>A,p.V355M |
| INPP1(NM_001128928,inositol polyphosphate-1-phosphatase,399aa) | g.2:191235868A>C,c.940A>C,p.K314Q |
| INPP1(NM_001128928,inositol polyphosphate-1-phosphatase,399aa) | g.2:191235652G>A,c.724G>A,p.G242S |
| INPP1(NM_001128928,inositol polyphosphate-1-phosphatase,399aa) | g.2:191235610A>G,c.682A>G,p.T228A |
| INPP1(NM_001128928,inositol polyphosphate-1-phosphatase,399aa) | g.2:191224880A>G,c.52A>G,p.I18V |
| INO80(NM_017553,INO80 complex subunit,1556aa) | g.15:41377607C>T,c.833G>A,p.R278K |
| INO80(NM_017553,INO80 complex subunit,1556aa) | g.15:41364208G>A,c.1444C>T,p.R482W |
| INO80(NM_017553,INO80 complex subunit,1556aa) | g.15:41339697T>C,c.2644A>G,p.I882V |
| INO80(NM_017553,INO80 complex subunit,1556aa) | g.15:41337197C>T,c.2812G>A,p.E938K |
| INO80(NM_017553,INO80 complex subunit,1556aa) | g.15:41319844G>A,c.2998C>T,p.R1000C |
| INO80(NM_017553,INO80 complex subunit,1556aa) | g.15:41308365A>C,c.3323T>G,p.V1108G |
| INO80(NM_017553,INO80 complex subunit,1556aa) | g.15:41276477G>A,c.3995C>T,p.S1332L |
| INO80(NM_017553,INO80 complex subunit,1556aa) | g.15:41275966C>T,c.4231G>A,p.V1411M |
| INO80(NM_017553,INO80 complex subunit,1556aa) | g.15:41275242C>G,c.4271G>C,p.R1424P |
| INO80(NM_017553,INO80 complex subunit,1556aa) | g.15:41275146C>A,c.4367G>T,p.S1456I |
| INO80(NM_017553,INO80 complex subunit,1556aa) | g.15:41272539A>G,c.4553T>C,p.L1518S |
| INO80E(NM_173618,INO80 complex subunit E,244aa) | g.16:30016659C>G,c.631C>G,p.P211A |
| INO80E(NM_173618,INO80 complex subunit E,244aa) | g.16:30016644C>A,c.616C>A,p.P206T |
| INO80E(NM_173618,INO80 complex subunit E,244aa) | g.16:30012840C>T,c.502C>T,p.R168W |
| INO80E(NM_173618,INO80 complex subunit E,244aa) | g.16:30012832G>A,c.494G>A,p.R165H |
| INO80E(NM_173618,INO80 complex subunit E,244aa) | g.16:30012335G>A,c.370G>A,p.G124R |
| INO80E(NM_173618,INO80 complex subunit E,244aa) | g.16:30012323C>T,c.358C>T,p.L120F |
| INO80E(NM_173618,INO80 complex subunit E,244aa) | g.16:30012264C>T,c.299C>T,p.P100L |
| INO80E(NM_173618,INO80 complex subunit E,244aa) | g.16:30012145C>T,c.272C>T,p.P91L |
| INO80E(NM_173618,INO80 complex subunit E,244aa) | g.16:30007713G>C,c.81+1G>C,p.27Donor |
| INO80E(NM_173618,INO80 complex subunit E,244aa) | g.16:30007664_30007665insA,c.33_34insA,p.11fs |
| INO80D(NM_017759,INO80 complex subunit D,1027aa) | g.2:206920990C>T,c.896G>A,p.R299Q |