| 基因名 | 突变 |
|---|---|
| ITPRIPL1(NM_178495,inositol 1,4,5-trisphosphate receptor interacting protein-like 1,563aa) | g.2:96993298G>A,c.953G>A,p.G318D |
| ITPRIPL1(NM_178495,inositol 1,4,5-trisphosphate receptor interacting protein-like 1,563aa) | g.2:96993147C>T,c.802C>T,p.R268C |
| ITPRIPL1(NM_178495,inositol 1,4,5-trisphosphate receptor interacting protein-like 1,563aa) | g.2:96992802G>A,c.457G>A,p.E153K |
| ITPRIPL1(NM_178495,inositol 1,4,5-trisphosphate receptor interacting protein-like 1,563aa) | g.2:96992752G>A,c.407G>A,p.R136Q |
| ITPRIPL1(NM_178495,inositol 1,4,5-trisphosphate receptor interacting protein-like 1,563aa) | g.2:96992736G>A,c.391G>A,p.V131I |
| ITPRIPL1(NM_178495,inositol 1,4,5-trisphosphate receptor interacting protein-like 1,563aa) | g.2:96992723T>A,c.378T>A,p.F126L |
| ITPRIPL1(NM_178495,inositol 1,4,5-trisphosphate receptor interacting protein-like 1,563aa) | g.2:96992645G>C,c.300G>C,p.M100I |
| ITPRIPL1(NM_178495,inositol 1,4,5-trisphosphate receptor interacting protein-like 1,563aa) | g.2:96992526C>T,c.181C>T,p.R61C |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33662732G>A,c.7817G>A,p.R2606Q |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33660634A>G,c.7588A>G,p.K2530E |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33659472C>G,c.7306C>G,p.L2436V |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33657017G>A,c.6697G>A,p.V2233M |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33655307T>G,c.6230T>G,p.I2077S |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33654826G>A,c.6020G>A,p.R2007Q |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33653971G>A,c.5809G>A,p.V1937I |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33653506C>T,c.5569C>T,p.R1857C |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33653486G>A,c.5549G>A,p.R1850Q |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33653284G>A,c.5456G>A,p.R1819H |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33652456A>C,c.5128A>C,p.I1710L |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33648383G>A,c.4402G>A,p.V1468M |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33648228C>T,c.4345+2C>T,p.1449Donor |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33648197C>T,c.4316C>T,p.T1439M |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33643512T>C,c.3161T>C,p.M1054T |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33642012G>T,c.3086G>T,p.G1029V |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33641384G>A,c.2945G>A,p.R982H |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33641383C>T,c.2944C>T,p.R982C |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33638453A>G,c.2447A>G,p.D816G |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33638450A>G,c.2444A>G,p.Y815C |