| 基因名 | 突变 |
|---|---|
| IMPA2(NM_014214,inositol(myo)-1(or 4)-monophosphatase 2,288aa) | g.18:12014325G>A,c.443G>A,p.R148Q |
| IMPA2(NM_014214,inositol(myo)-1(or 4)-monophosphatase 2,288aa) | g.18:12014315C>T,c.433C>T,p.R145W |
| IMPA2(NM_014214,inositol(myo)-1(or 4)-monophosphatase 2,288aa) | g.18:12014301G>A,c.419G>A,p.R140Q |
| IMPA2(NM_014214,inositol(myo)-1(or 4)-monophosphatase 2,288aa) | g.18:12009913G>A,c.262G>A,p.A88T |
| IMPA2(NM_014214,inositol(myo)-1(or 4)-monophosphatase 2,288aa) | g.18:12009901G>A,c.250G>A,p.A84T |
| IMPA2(NM_014214,inositol(myo)-1(or 4)-monophosphatase 2,288aa) | g.18:11999186G>A,c.230G>A,p.R77K |
| IMPA1(NM_001144878,inositol(myo)-1(or 4)-monophosphatase 1,336aa) | g.8:82592967G>A,c.292C>T,p.P98S |
| IMPA1(NM_001144878,inositol(myo)-1(or 4)-monophosphatase 1,336aa) | g.8:82588492T>C,c.502A>G,p.I168V |
| IMPA1(NM_001144878,inositol(myo)-1(or 4)-monophosphatase 1,336aa) | g.8:82586154C>G,c.556G>C,p.E186Q |
| IMPA1(NM_001144878,inositol(myo)-1(or 4)-monophosphatase 1,336aa) | g.8:82572856T>C,c.790A>G,p.T264A |
| IMPA1(NM_001144878,inositol(myo)-1(or 4)-monophosphatase 1,336aa) | g.8:82572769C>T,c.877G>A,p.V293M |
| IMP4(NM_033416,IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast),291aa) | g.2:131104012C>T,c.847C>T,p.R283C |
| IMP4(NM_033416,IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast),291aa) | g.2:131103937A>G,c.772A>G,p.I258V |
| IMP4(NM_033416,IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast),291aa) | g.2:131103803G>A,c.719G>A,p.R240H |
| IMP4(NM_033416,IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast),291aa) | g.2:131103405T>C,c.493T>C,p.C165R |
| IMP4(NM_033416,IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast),291aa) | g.2:131103394A>G,c.482A>G,p.Y161C |
| IMP4(NM_033416,IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast),291aa) | g.2:131103254G>A,c.421G>A,p.E141K |
| IMP4(NM_033416,IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast),291aa) | g.2:131102272T>G,c.183T>G,p.D61E |
| IMP4(NM_033416,IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast),291aa) | g.2:131100734G>A,c.79G>A,p.E27K |
| IMP3(NM_018285,IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast),184aa) | g.15:75932459G>T,c.51C>A,p.D17E |
| IMP3(NM_018285,IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast),184aa) | g.15:75932172G>A,c.338C>T,p.T113I |
| IMP3(NM_018285,IMP3, U3 small nucleolar ribonucleoprotein, homolog (yeast),184aa) | g.15:75931966G>C,c.544C>G,p.L182V |
| IMMT(NM_006839,inner membrane protein, mitochondrial,758aa) | g.2:86400824G>A,c.370C>T,p.P124S |
| IMMT(NM_006839,inner membrane protein, mitochondrial,758aa) | g.2:86400791T>C,c.403A>G,p.T135A |
| IMMT(NM_006839,inner membrane protein, mitochondrial,758aa) | g.2:86389114G>A,c.881C>T,p.A294V |
| IMMT(NM_006839,inner membrane protein, mitochondrial,758aa) | g.2:86389099T>C,c.896A>G,p.K299R |
| IMMT(NM_006839,inner membrane protein, mitochondrial,758aa) | g.2:86378518C>T,c.1303G>A,p.E435K |
| IMMP2L(NM_032549,IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae),175aa) | g.7:111161439G>A,c.65C>T,p.A22V |