| 基因名 | 突变 |
|---|---|
| CIR1(NM_004882,corepressor interacting with RBPJ, 1,450aa) | g.2:175213505del,c.1073del,p.358fs |
| CIR1(NM_004882,corepressor interacting with RBPJ, 1,450aa) | g.2:175213500T>C,c.1078A>G,p.R360G |
| CINP(NM_001177611,cyclin-dependent kinase 2 interacting protein,227aa) | g.14:102825876C>G,c.101G>C,p.S34T |
| CINP(NM_001177611,cyclin-dependent kinase 2 interacting protein,227aa) | g.14:102825773G>C,c.204C>G,p.N68K |
| CINP(NM_001177611,cyclin-dependent kinase 2 interacting protein,227aa) | g.14:102815042C>T,c.536G>A,p.R179H |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65499318C>T,c.226G>A,p.A76T |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65499260C>T,c.284G>A,p.R95Q |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65499170C>T,c.374G>A,p.R125Q |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65497711C>T,c.518G>A,p.R173H |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65497706G>A,c.523C>T,p.R175C |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65496624C>G,c.901G>C,p.A301P |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65495769C>T,c.959G>A,p.R320Q |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65495764C>T,c.964G>A,p.A322T |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65495699C>T,c.1028+1G>A,p.343Donor |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65494212A>G,c.1184T>C,p.I395T |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65491281C>T,c.1343G>A,p.R448H |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65491078G>A,c.1546C>T,p.R516C |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65491077C>T,c.1547G>A,p.R516H |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65490907G>A,c.1717C>T,p.R573W |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65490901T>C,c.1723A>G,p.K575E |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65490864A>T,c.1760T>A,p.I587N |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65490592C>T,c.2032G>A,p.V678M |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65490046G>A,c.2578C>T,p.R860C |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65489745A>G,c.2879T>C,p.I960T |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65489719G>A,c.2905C>T,p.R969X |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65489688T>C,c.2936A>G,p.Q979R |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65489643C>T,c.2981G>A,p.R994Q |
| CILP(NM_003613,cartilage intermediate layer protein, nucleotide pyrophosphohydrolase,1184aa) | g.15:65489523C>T,c.3101G>A,p.R1034H |