| 基因名 | 突变 |
|---|---|
| INSC(NM_001031853,inscuteable homolog (Drosophila),579aa) | g.11:15243059G>A,c.997G>A,p.D333N |
| INSC(NM_001031853,inscuteable homolog (Drosophila),579aa) | g.11:15243047G>A,c.985G>A,p.D329N |
| INSC(NM_001031853,inscuteable homolog (Drosophila),579aa) | g.11:15222466G>A,c.931G>A,p.V311M |
| INSC(NM_001031853,inscuteable homolog (Drosophila),579aa) | g.11:15222443G>A,c.908G>A,p.R303H |
| INSC(NM_001031853,inscuteable homolog (Drosophila),579aa) | g.11:15198694C>T,c.581C>T,p.S194L |
| INSC(NM_001031853,inscuteable homolog (Drosophila),579aa) | g.11:15197468C>T,c.379C>T,p.R127W |
| INSC(NM_001031853,inscuteable homolog (Drosophila),579aa) | g.11:15170743G>A,c.164G>A,p.R55H |
| INSC(NM_001031853,inscuteable homolog (Drosophila),579aa) | g.11:15170686G>A,c.107G>A,p.R36H |
| INSC(NM_001031853,inscuteable homolog (Drosophila),579aa) | g.11:15134023G>A,c.8G>A,p.R3Q |
| INPPL1(NM_001567,inositol polyphosphate phosphatase-like 1,1258aa) | g.11:71948802C>T,c.3514C>T,p.R1172C |
| INPPL1(NM_001567,inositol polyphosphate phosphatase-like 1,1258aa) | g.11:71948794C>A,c.3506C>A,p.P1169H |
| INPPL1(NM_001567,inositol polyphosphate phosphatase-like 1,1258aa) | g.11:71948754C>G,c.3466C>G,p.R1156G |
| INPPL1(NM_001567,inositol polyphosphate phosphatase-like 1,1258aa) | g.11:71948536C>G,c.3248C>G,p.A1083G |
| INPPL1(NM_001567,inositol polyphosphate phosphatase-like 1,1258aa) | g.11:71948215C>A,c.2927C>A,p.P976Q |
| INPPL1(NM_001567,inositol polyphosphate phosphatase-like 1,1258aa) | g.11:71946973C>T,c.2822C>T,p.T941M |
| INPPL1(NM_001567,inositol polyphosphate phosphatase-like 1,1258aa) | g.11:71946912T>C,c.2761T>C,p.F921L |
| INPPL1(NM_001567,inositol polyphosphate phosphatase-like 1,1258aa) | g.11:71945645C>T,c.2401C>T,p.R801C |
| INPPL1(NM_001567,inositol polyphosphate phosphatase-like 1,1258aa) | g.11:71945367G>A,c.2255G>A,p.S752N |
| INPPL1(NM_001567,inositol polyphosphate phosphatase-like 1,1258aa) | g.11:71943961C>A,c.1894C>A,p.L632I |
| INPPL1(NM_001567,inositol polyphosphate phosphatase-like 1,1258aa) | g.11:71943374C>T,c.1706C>T,p.T569M |
| INPPL1(NM_001567,inositol polyphosphate phosphatase-like 1,1258aa) | g.11:71941033G>C,c.909G>C,p.K303N |
| INPP5K(NM_001135642,inositol polyphosphate-5-phosphatase K,372aa) | g.17:1411432C>T,c.415G>A,p.G139S |
| INPP5K(NM_001135642,inositol polyphosphate-5-phosphatase K,372aa) | g.17:1410287C>A,c.535G>T,p.D179Y |
| INPP5K(NM_001135642,inositol polyphosphate-5-phosphatase K,372aa) | g.17:1401330G>A,c.635C>T,p.P212L |
| INPP5K(NM_001135642,inositol polyphosphate-5-phosphatase K,372aa) | g.17:1401327G>A,c.638C>T,p.P213L |
| INPP5J(NM_001002837,inositol polyphosphate-5-phosphatase J,638aa) | g.22:31530277C>T,c.1789C>T,p.R597C |
| INPP5J(NM_001002837,inositol polyphosphate-5-phosphatase J,638aa) | g.22:31530271G>A,c.1783G>A,p.A595T |
| INPP5J(NM_001002837,inositol polyphosphate-5-phosphatase J,638aa) | g.22:31530083G>A,c.1595G>A,p.R532Q |