| 基因名 | 突变 |
|---|---|
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33638335C>T,c.2423C>T,p.T808I |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33638138C>A,c.2226C>A,p.D742E |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33635662C>T,c.1807C>T,p.R603C |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33631630T>G,c.1121T>G,p.L374W |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33631519C>T,c.1010C>T,p.A337V |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33627298G>A,c.683G>A,p.R228Q |
| ITPR3(NM_002224,inositol 1,4,5-trisphosphate receptor, type 3,2671aa) | g.6:33625743C>T,c.317C>T,p.T106M |
| ITPR2(NM_002223,inositol 1,4,5-trisphosphate receptor, type 2,2701aa) | g.12:26834858G>A,c.1358C>T,p.A453V |
| ITPR2(NM_002223,inositol 1,4,5-trisphosphate receptor, type 2,2701aa) | g.12:26834806_26834807insTCAC,c.1409insGTGA,p.470fs |
| ITPR2(NM_002223,inositol 1,4,5-trisphosphate receptor, type 2,2701aa) | g.12:26834804_26834805insACTC,c.1409+2insGAGT,p.470Donorins |
| ITPR2(NM_002223,inositol 1,4,5-trisphosphate receptor, type 2,2701aa) | g.12:26810734T>C,c.2098A>G,p.S700G |
| ITPR2(NM_002223,inositol 1,4,5-trisphosphate receptor, type 2,2701aa) | g.12:26784930T>C,c.2803A>G,p.R935G |
| ITPR2(NM_002223,inositol 1,4,5-trisphosphate receptor, type 2,2701aa) | g.12:26784906C>T,c.2827G>A,p.V943M |
| ITPR2(NM_002223,inositol 1,4,5-trisphosphate receptor, type 2,2701aa) | g.12:26784902G>A,c.2831C>T,p.P944L |
| ITPR2(NM_002223,inositol 1,4,5-trisphosphate receptor, type 2,2701aa) | g.12:26784809T>G,c.2924A>C,p.E975A |
| ITPR2(NM_002223,inositol 1,4,5-trisphosphate receptor, type 2,2701aa) | g.12:26755563C>T,c.3539G>A,p.R1180Q |
| ITPR2(NM_002223,inositol 1,4,5-trisphosphate receptor, type 2,2701aa) | g.12:26755346G>A,c.3635C>T,p.A1212V |
| ITPR2(NM_002223,inositol 1,4,5-trisphosphate receptor, type 2,2701aa) | g.12:26731693G>A,c.4583C>T,p.A1528V |
| ITPR2(NM_002223,inositol 1,4,5-trisphosphate receptor, type 2,2701aa) | g.12:26592183G>C,c.6520C>G,p.R2174G |
| ITPR2(NM_002223,inositol 1,4,5-trisphosphate receptor, type 2,2701aa) | g.12:26580929G>A,c.6862C>T,p.R2288W |
| ITPR2(NM_002223,inositol 1,4,5-trisphosphate receptor, type 2,2701aa) | g.12:26564324A>G,c.7328T>C,p.M2443T |
| ITPR2(NM_002223,inositol 1,4,5-trisphosphate receptor, type 2,2701aa) | g.12:26553158G>A,c.7433C>T,p.T2478M |
| ITPR2(NM_002223,inositol 1,4,5-trisphosphate receptor, type 2,2701aa) | g.12:26493216C>T,c.7903G>A,p.V2635I |
| ITPR2(NM_002223,inositol 1,4,5-trisphosphate receptor, type 2,2701aa) | g.12:26493117C>T,c.8002G>A,p.A2668T |
| ITPR1(NM_001168272,inositol 1,4,5-trisphosphate receptor, type 1,2743aa) | g.3:4842276G>A,c.7054G>A,p.A2352T |
| ITPR1(NM_001168272,inositol 1,4,5-trisphosphate receptor, type 1,2743aa) | g.3:4824376C>T,c.6416C>T,p.A2139V |
| ITPR1(NM_001168272,inositol 1,4,5-trisphosphate receptor, type 1,2743aa) | g.3:4810374G>A,c.5860G>A,p.A1954T |
| ITPR1(NM_001168272,inositol 1,4,5-trisphosphate receptor, type 1,2743aa) | g.3:4808290T>G,c.5576T>G,p.V1859G |