| 基因名 | 突变 |
|---|---|
| IMPG1(NM_001563,interphotoreceptor matrix proteoglycan 1,797aa) | g.6:76640803G>A,c.2110C>T,p.R704W |
| IMPG1(NM_001563,interphotoreceptor matrix proteoglycan 1,797aa) | g.6:76640781C>T,c.2132G>A,p.R711H |
| IMPG1(NM_001563,interphotoreceptor matrix proteoglycan 1,797aa) | g.6:76640743C>T,c.2170G>A,p.G724S |
| IMPG1(NM_001563,interphotoreceptor matrix proteoglycan 1,797aa) | g.6:76633385C>T,c.2282G>A,p.S761N |
| IMPG1(NM_001563,interphotoreceptor matrix proteoglycan 1,797aa) | g.6:76631823C>T,c.2377G>A,p.D793N |
| IMPDH2(NM_000884,IMP (inosine 5'-monophosphate) dehydrogenase 2,514aa) | g.3:49061944C>T,c.1507G>A,p.V503I |
| IMPDH1(NM_000883,IMP (inosine 5'-monophosphate) dehydrogenase 1,599aa) | g.7:128040478G>A,c.695C>T,p.T232M |
| IMPDH1(NM_000883,IMP (inosine 5'-monophosphate) dehydrogenase 1,599aa) | g.7:128040404T>C,c.769A>G,p.T257A |
| IMPDH1(NM_000883,IMP (inosine 5'-monophosphate) dehydrogenase 1,599aa) | g.7:128040174A>C,c.849T>G,p.N283K |
| IMPDH1(NM_000883,IMP (inosine 5'-monophosphate) dehydrogenase 1,599aa) | g.7:128038512G>A,c.1030C>T,p.R344C |
| IMPDH1(NM_000883,IMP (inosine 5'-monophosphate) dehydrogenase 1,599aa) | g.7:128037072G>A,c.1079C>T,p.S360L |
| IMPDH1(NM_000883,IMP (inosine 5'-monophosphate) dehydrogenase 1,599aa) | g.7:128037043C>T,c.1108G>A,p.A370T |
| IMPDH1(NM_000883,IMP (inosine 5'-monophosphate) dehydrogenase 1,599aa) | g.7:128035018C>T,c.1475G>A,p.R492Q |
| IMPDH1(NM_000883,IMP (inosine 5'-monophosphate) dehydrogenase 1,599aa) | g.7:128034631C>T,c.1573G>A,p.A525T |
| IMPDH1(NM_000883,IMP (inosine 5'-monophosphate) dehydrogenase 1,599aa) | g.7:128034606T>C,c.1598A>G,p.Q533R |
| IMPAD1(NM_017813,inositol monophosphatase domain containing 1,359aa) | g.8:57890695C>T,c.560G>A,p.R187Q |
| IMPAD1(NM_017813,inositol monophosphatase domain containing 1,359aa) | g.8:57890680G>C,c.575C>G,p.T192S |
| IMPAD1(NM_017813,inositol monophosphatase domain containing 1,359aa) | g.8:57878830C>T,c.728G>A,p.R243H |
| IMPAD1(NM_017813,inositol monophosphatase domain containing 1,359aa) | g.8:57876576T>C,c.856A>G,p.K286E |
| IMPAD1(NM_017813,inositol monophosphatase domain containing 1,359aa) | g.8:57876468C>T,c.964G>A,p.E322K |
| IMPAD1(NM_017813,inositol monophosphatase domain containing 1,359aa) | g.8:57876444C>T,c.988G>A,p.G330S |
| IMPACT(NM_018439,impact RWD domain protein,320aa) | g.18:22029852C>T,c.829C>T,p.R277C |
| IMPACT(NM_018439,impact RWD domain protein,320aa) | g.18:22020543C>G,c.451C>G,p.L151V |
| IMPACT(NM_018439,impact RWD domain protein,320aa) | g.18:22020496T>C,c.404T>C,p.V135A |
| IMPACT(NM_018439,impact RWD domain protein,320aa) | g.18:22020493A>G,c.401A>G,p.D134G |
| IMPACT(NM_018439,impact RWD domain protein,320aa) | g.18:22020467T>A,c.375T>A,p.D125E |
| IMPA2(NM_014214,inositol(myo)-1(or 4)-monophosphatase 2,288aa) | g.18:12030389C>T,c.799C>T,p.R267W |
| IMPA2(NM_014214,inositol(myo)-1(or 4)-monophosphatase 2,288aa) | g.18:12028109C>T,c.558C>T,p.F186F |