| 基因名 | 突变 |
|---|---|
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237300677T>C,c.1355A>G,p.K452R |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237300650C>T,c.1382G>A,p.R461H |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237289215T>C,c.1475A>G,p.D492G |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237276898T>G,c.1608A>C,p.E536D |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237253211C>T,c.1945G>A,p.A649T |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237247013G>A,c.1969C>T,p.R657C |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237246994G>C,c.1988C>G,p.P663R |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237246934C>T,c.2048G>A,p.R683H |
| IQCA1(NM_024726,IQ motif containing with AAA domain 1,822aa) | g.2:237246905A>G,c.2077T>C,p.C693R |
| IPP(NM_005897,intracisternal A particle-promoted polypeptide,584aa) | g.1:46211953C>T,c.131G>A,p.G44E |
| IPP(NM_005897,intracisternal A particle-promoted polypeptide,584aa) | g.1:46206636C>T,c.661G>A,p.E221K |
| IPP(NM_005897,intracisternal A particle-promoted polypeptide,584aa) | g.1:46195433C>T,c.733G>A,p.D245N |
| IPP(NM_005897,intracisternal A particle-promoted polypeptide,584aa) | g.1:46195375T>C,c.791A>G,p.K264R |
| IPP(NM_005897,intracisternal A particle-promoted polypeptide,584aa) | g.1:46180058G>A,c.1390C>T,p.R464C |
| IPPK(NM_022755,inositol 1,3,4,5,6-pentakisphosphate 2-kinase,491aa) | g.9:95432254A>G,c.17T>C,p.M6T |
| IPPK(NM_022755,inositol 1,3,4,5,6-pentakisphosphate 2-kinase,491aa) | g.9:95418743A>G,c.220T>C,p.Y74H |
| IPPK(NM_022755,inositol 1,3,4,5,6-pentakisphosphate 2-kinase,491aa) | g.9:95411761G>A,c.388C>T,p.R130W |
| IPPK(NM_022755,inositol 1,3,4,5,6-pentakisphosphate 2-kinase,491aa) | g.9:95400370G>A,c.829C>T,p.R277W |
| IPPK(NM_022755,inositol 1,3,4,5,6-pentakisphosphate 2-kinase,491aa) | g.9:95400295G>A,c.904C>T,p.L302F |
| IPPK(NM_022755,inositol 1,3,4,5,6-pentakisphosphate 2-kinase,491aa) | g.9:95396712G>A,c.1126C>T,p.L376F |
| IPPK(NM_022755,inositol 1,3,4,5,6-pentakisphosphate 2-kinase,491aa) | g.9:95378332G>C,c.1258C>G,p.Q420E |
| IPPK(NM_022755,inositol 1,3,4,5,6-pentakisphosphate 2-kinase,491aa) | g.9:95378176C>T,c.1414G>A,p.A472T |
| IPO9(NM_018085,importin 9,1041aa) | g.1:201841994A>G,c.2615A>G,p.N872S |
| IPO9(NM_018085,importin 9,1041aa) | g.1:201832629G>C,c.1522G>C,p.A508P |
| IPO9(NM_018085,importin 9,1041aa) | g.1:201828093A>G,c.1439A>G,p.N480S |
| IPO9(NM_018085,importin 9,1041aa) | g.1:201824937G>A,c.997G>A,p.V333I |
| IPO8(NM_006390,importin 8,1037aa) | g.12:30833513C>T,c.542G>A,p.R181H |
| IPO8(NM_006390,importin 8,1037aa) | g.12:30827684T>C,c.733A>G,p.T245A |