| 基因名 | 突变 |
|---|---|
| ITPR1(NM_001168272,inositol 1,4,5-trisphosphate receptor, type 1,2743aa) | g.3:4774818T>C,c.5222T>C,p.V1741A |
| ITPR1(NM_001168272,inositol 1,4,5-trisphosphate receptor, type 1,2743aa) | g.3:4767233C>A,c.5095C>A,p.P1699T |
| ITPR1(NM_001168272,inositol 1,4,5-trisphosphate receptor, type 1,2743aa) | g.3:4747976C>T,c.4738C>T,p.R1580C |
| ITPR1(NM_001168272,inositol 1,4,5-trisphosphate receptor, type 1,2743aa) | g.3:4738837A>G,c.4243A>G,p.I1415V |
| ITPR1(NM_001168272,inositol 1,4,5-trisphosphate receptor, type 1,2743aa) | g.3:4726852G>A,c.3619G>A,p.A1207T |
| ITPR1(NM_001168272,inositol 1,4,5-trisphosphate receptor, type 1,2743aa) | g.3:4725445A>G,c.3416A>G,p.D1139G |
| ITPR1(NM_001168272,inositol 1,4,5-trisphosphate receptor, type 1,2743aa) | g.3:4715070G>A,c.2410G>A,p.D804N |
| ITPR1(NM_001168272,inositol 1,4,5-trisphosphate receptor, type 1,2743aa) | g.3:4714920A>G,c.2260A>G,p.M754V |
| ITPR1(NM_001168272,inositol 1,4,5-trisphosphate receptor, type 1,2743aa) | g.3:4704816G>A,c.1435G>A,p.V479I |
| ITPR1(NM_001168272,inositol 1,4,5-trisphosphate receptor, type 1,2743aa) | g.3:4693828C>T,c.877C>T,p.R293W |
| ITPR1(NM_001168272,inositol 1,4,5-trisphosphate receptor, type 1,2743aa) | g.3:4683925T>C,c.515T>C,p.I172T |
| ITPKC(NM_025194,inositol-trisphosphate 3-kinase C,683aa) | g.19:41242951A>G,c.1735A>G,p.K579E |
| ITPKC(NM_025194,inositol-trisphosphate 3-kinase C,683aa) | g.19:41239241C>T,c.1646C>T,p.T549I |
| ITPKC(NM_025194,inositol-trisphosphate 3-kinase C,683aa) | g.19:41239223C>T,c.1628C>T,p.T543I |
| ITPKC(NM_025194,inositol-trisphosphate 3-kinase C,683aa) | g.19:41235167G>A,c.1316G>A,p.R439H |
| ITPKC(NM_025194,inositol-trisphosphate 3-kinase C,683aa) | g.19:41223836G>A,c.796G>A,p.G266S |
| ITPKC(NM_025194,inositol-trisphosphate 3-kinase C,683aa) | g.19:41223818A>C,c.778A>C,p.K260Q |
| ITPKC(NM_025194,inositol-trisphosphate 3-kinase C,683aa) | g.19:41223795A>C,c.755A>C,p.K252T |
| ITPKC(NM_025194,inositol-trisphosphate 3-kinase C,683aa) | g.19:41223746G>A,c.706G>A,p.D236N |
| ITPKC(NM_025194,inositol-trisphosphate 3-kinase C,683aa) | g.19:41223387A>T,c.347A>T,p.D116V |
| ITPKC(NM_025194,inositol-trisphosphate 3-kinase C,683aa) | g.19:41223347G>A,c.307G>A,p.G103R |
| ITPKC(NM_025194,inositol-trisphosphate 3-kinase C,683aa) | g.19:41223203G>C,c.163G>C,p.G55R |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226924982G>C,c.178C>G,p.P60A |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226924940C>T,c.220G>A,p.G74S |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226924886T>C,c.274A>G,p.S92G |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226924878_226924886del,c.274_282del,p.92_94del |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226924876_226924884del,c.276_284del,p.92_95del |
| ITPKB(NM_002221,inositol-trisphosphate 3-kinase B,946aa) | g.1:226924642C>T,c.518G>A,p.R173H |