| 基因名 | 突变 |
|---|---|
| ITSN1(NM_003024,intersectin 1 (SH3 domain protein),1721aa) | g.21:35186357C>T,c.2708C>T,p.P903L |
| ITSN1(NM_003024,intersectin 1 (SH3 domain protein),1721aa) | g.21:35186290G>A,c.2641G>A,p.V881I |
| ITSN1(NM_003024,intersectin 1 (SH3 domain protein),1721aa) | g.21:35186249C>T,c.2600C>T,p.T867M |
| ITSN1(NM_003024,intersectin 1 (SH3 domain protein),1721aa) | g.21:35183493C>T,c.2534C>T,p.T845M |
| ITSN1(NM_003024,intersectin 1 (SH3 domain protein),1721aa) | g.21:35172139A>C,c.2210A>C,p.Q737P |
| ITSN1(NM_003024,intersectin 1 (SH3 domain protein),1721aa) | g.21:35122462G>A,c.361G>A,p.A121T |
| ITSN1(NM_003024,intersectin 1 (SH3 domain protein),1721aa) | g.21:35107497G>A,c.334G>A,p.A112T |
| ITPRIP(NM_033397,inositol 1,4,5-trisphosphate receptor interacting protein,547aa) | g.10:106075592G>A,c.218C>T,p.A73V |
| ITPRIP(NM_033397,inositol 1,4,5-trisphosphate receptor interacting protein,547aa) | g.10:106075500G>A,c.310C>T,p.R104W |
| ITPRIP(NM_033397,inositol 1,4,5-trisphosphate receptor interacting protein,547aa) | g.10:106075455C>T,c.355G>A,p.E119K |
| ITPRIP(NM_033397,inositol 1,4,5-trisphosphate receptor interacting protein,547aa) | g.10:106075269G>A,c.541C>T,p.R181W |
| ITPRIP(NM_033397,inositol 1,4,5-trisphosphate receptor interacting protein,547aa) | g.10:106075173G>A,c.637C>T,p.P213S |
| ITPRIP(NM_033397,inositol 1,4,5-trisphosphate receptor interacting protein,547aa) | g.10:106075118C>T,c.692G>A,p.R231H |
| ITPRIP(NM_033397,inositol 1,4,5-trisphosphate receptor interacting protein,547aa) | g.10:106074942T>G,c.868A>C,p.T290P |
| ITPRIP(NM_033397,inositol 1,4,5-trisphosphate receptor interacting protein,547aa) | g.10:106074603C>A,c.1207G>T,p.A403S |
| ITPRIP(NM_033397,inositol 1,4,5-trisphosphate receptor interacting protein,547aa) | g.10:106074330C>T,c.1480G>A,p.V494M |
| ITPRIPL2(NM_001034841,inositol 1,4,5-trisphosphate receptor interacting protein-like 2,535aa) | g.16:19127347C>T,c.1564C>T,p.P522S |
| ITPRIPL2(NM_001034841,inositol 1,4,5-trisphosphate receptor interacting protein-like 2,535aa) | g.16:19127070C>G,c.1287C>G,p.H429Q |
| ITPRIPL2(NM_001034841,inositol 1,4,5-trisphosphate receptor interacting protein-like 2,535aa) | g.16:19127036A>G,c.1253A>G,p.K418R |
| ITPRIPL2(NM_001034841,inositol 1,4,5-trisphosphate receptor interacting protein-like 2,535aa) | g.16:19126760C>T,c.977C>T,p.P326L |
| ITPRIPL2(NM_001034841,inositol 1,4,5-trisphosphate receptor interacting protein-like 2,535aa) | g.16:19126576A>G,c.793A>G,p.T265A |
| ITPRIPL2(NM_001034841,inositol 1,4,5-trisphosphate receptor interacting protein-like 2,535aa) | g.16:19126495G>A,c.712G>A,p.V238M |
| ITPRIPL2(NM_001034841,inositol 1,4,5-trisphosphate receptor interacting protein-like 2,535aa) | g.16:19125800C>T,c.17C>T,p.T6I |
| ITPRIPL1(NM_178495,inositol 1,4,5-trisphosphate receptor interacting protein-like 1,563aa) | g.2:96993806G>A,c.1461G>A,p.W487X |
| ITPRIPL1(NM_178495,inositol 1,4,5-trisphosphate receptor interacting protein-like 1,563aa) | g.2:96993757C>T,c.1412C>T,p.T471M |
| ITPRIPL1(NM_178495,inositol 1,4,5-trisphosphate receptor interacting protein-like 1,563aa) | g.2:96993477G>T,c.1132G>T,p.V378L |
| ITPRIPL1(NM_178495,inositol 1,4,5-trisphosphate receptor interacting protein-like 1,563aa) | g.2:96993447C>T,c.1102C>T,p.R368C |
| ITPRIPL1(NM_178495,inositol 1,4,5-trisphosphate receptor interacting protein-like 1,563aa) | g.2:96993349G>A,c.1004G>A,p.G335D |