| 基因名 | 突变 |
|---|---|
| NIPBL(NM_015384,Nipped-B homolog (Drosophila),2697aa) | g.5:36984789del,c.1507del,p.503fs |
| NIPBL(NM_015384,Nipped-B homolog (Drosophila),2697aa) | g.5:36976160A>G,c.1151A>G,p.N384S |
| NIPBL(NM_015384,Nipped-B homolog (Drosophila),2697aa) | g.5:36962301G>A,c.535G>A,p.A179T |
| NIPBL(NM_015384,Nipped-B homolog (Drosophila),2697aa) | g.5:36962227G>A,c.461G>A,p.R154Q |
| NIPBL(NM_015384,Nipped-B homolog (Drosophila),2697aa) | g.5:36961612T>C,c.385T>C,p.S129P |
| NIPBL(NM_015384,Nipped-B homolog (Drosophila),2697aa) | g.5:36958225G>A,c.250G>A,p.G84S |
| NIPAL4(NM_001099287,NIPA-like domain containing 4,466aa) | g.5:156899925C>T,c.1358C>T,p.S453L |
| NIPAL4(NM_001099287,NIPA-like domain containing 4,466aa) | g.5:156899672G>A,c.1105G>A,p.V369I |
| NIPAL4(NM_001099287,NIPA-like domain containing 4,466aa) | g.5:156898690A>G,c.637A>G,p.R213G |
| NIPAL4(NM_001099287,NIPA-like domain containing 4,466aa) | g.5:156895736C>A,c.527C>A,p.A176D |
| NIPAL4(NM_001099287,NIPA-like domain containing 4,466aa) | g.5:156890324C>T,c.446C>T,p.T149M |
| NIPAL4(NM_001099287,NIPA-like domain containing 4,466aa) | g.5:156890174T>C,c.296T>C,p.V99A |
| NIPAL4(NM_001099287,NIPA-like domain containing 4,466aa) | g.5:156890156A>G,c.278A>G,p.N93S |
| NIPAL4(NM_001099287,NIPA-like domain containing 4,466aa) | g.5:156890119T>G,c.241T>G,p.Y81D |
| NIPAL3(NM_020448,NIPA-like domain containing 3,406aa) | g.1:24790554G>A,c.965G>A,p.R322H |
| NIPAL3(NM_020448,NIPA-like domain containing 3,406aa) | g.1:24779952G>A,c.595G>A,p.A199T |
| NIPAL3(NM_020448,NIPA-like domain containing 3,406aa) | g.1:24746056G>A,c.19G>A,p.A7T |
| NIPAL2(NM_024759,NIPA-like domain containing 2,368aa) | g.8:99234825G>A,c.440C>T,p.T147M |
| NIPAL2(NM_024759,NIPA-like domain containing 2,368aa) | g.8:99234772T>G,c.493A>C,p.T165P |
| NIPAL2(NM_024759,NIPA-like domain containing 2,368aa) | g.8:99224642C>T,c.646G>A,p.A216T |
| NIPAL2(NM_024759,NIPA-like domain containing 2,368aa) | g.8:99217445C>T,c.685G>A,p.V229I |
| NIPAL2(NM_024759,NIPA-like domain containing 2,368aa) | g.8:99217391T>C,c.739A>G,p.I247V |
| NIPAL2(NM_024759,NIPA-like domain containing 2,368aa) | g.8:99207034G>A,c.961C>T,p.L321F |
| NIPAL2(NM_024759,NIPA-like domain containing 2,368aa) | g.8:99205612C>T,c.1067+1G>A,p.356Donor |
| NIPAL2(NM_024759,NIPA-like domain containing 2,368aa) | g.8:99205289C>G,c.1097G>C,p.R366T |
| NIPAL1(NM_207330,NIPA-like domain containing 1,410aa) | g.4:48038160G>A,c.1204G>A,p.V402I |
| NIPAL1(NM_207330,NIPA-like domain containing 1,410aa) | g.4:48038082G>A,c.1126G>A,p.V376I |
| NIPAL1(NM_207330,NIPA-like domain containing 1,410aa) | g.4:48038020A>G,c.1064A>G,p.H355R |