| 基因名 | 突变 |
|---|---|
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78853916G>C,c.2908G>C,p.G970R |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78804567C>T,c.2531C>T,p.T844M |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78804093T>C,c.2464T>C,p.Y822H |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78789986G>A,c.1841G>A,p.R614Q |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78773966C>T,c.1498C>T,p.R500C |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78686806G>A,c.886G>A,p.V296I |
| PCSK4(NM_017573,proprotein convertase subtilisin/kexin type 4,755aa) | g.19:1490285G>A,c.61C>T,p.P21S |
| PCSK4(NM_017573,proprotein convertase subtilisin/kexin type 4,755aa) | g.19:1489817C>T,c.269G>A,p.R90H |
| PCSK4(NM_017573,proprotein convertase subtilisin/kexin type 4,755aa) | g.19:1488228C>T,c.346G>A,p.V116M |
| PCSK4(NM_017573,proprotein convertase subtilisin/kexin type 4,755aa) | g.19:1488187C>G,c.387G>C,p.M129I |
| PCSK4(NM_017573,proprotein convertase subtilisin/kexin type 4,755aa) | g.19:1487249G>A,c.746C>T,p.P249L |
| PCSK4(NM_017573,proprotein convertase subtilisin/kexin type 4,755aa) | g.19:1487205C>T,c.790G>A,p.D264N |
| PCSK4(NM_017573,proprotein convertase subtilisin/kexin type 4,755aa) | g.19:1487195G>A,c.800C>T,p.T267M |
| PCSK4(NM_017573,proprotein convertase subtilisin/kexin type 4,755aa) | g.19:1487045G>A,c.875C>T,p.T292M |
| PCSK4(NM_017573,proprotein convertase subtilisin/kexin type 4,755aa) | g.19:1484105C>G,c.1090G>C,p.G364R |
| PCSK4(NM_017573,proprotein convertase subtilisin/kexin type 4,755aa) | g.19:1484087T>C,c.1108A>G,p.T370A |
| PCSK4(NM_017573,proprotein convertase subtilisin/kexin type 4,755aa) | g.19:1483673G>A,c.1367C>T,p.A456V |
| PCSK4(NM_017573,proprotein convertase subtilisin/kexin type 4,755aa) | g.19:1483364G>A,c.1490C>T,p.T497M |
| PCSK4(NM_017573,proprotein convertase subtilisin/kexin type 4,755aa) | g.19:1482396G>A,c.1775C>T,p.T592I |
| PCSK4(NM_017573,proprotein convertase subtilisin/kexin type 4,755aa) | g.19:1482164G>A,c.1862C>T,p.A621V |
| PCSK4(NM_017573,proprotein convertase subtilisin/kexin type 4,755aa) | g.19:1482105T>C,c.1921A>G,p.T641A |
| PCSK4(NM_017573,proprotein convertase subtilisin/kexin type 4,755aa) | g.19:1482080C>A,c.1946G>T,p.C649F |
| PCSK4(NM_017573,proprotein convertase subtilisin/kexin type 4,755aa) | g.19:1481919G>A,c.2107C>T,p.H703Y |
| PCSK2(NM_002594,proprotein convertase subtilisin/kexin type 2,638aa) | g.20:17462504C>T,c.1706C>T,p.T569I |
| PCSK2(NM_002594,proprotein convertase subtilisin/kexin type 2,638aa) | g.20:17446185G>A,c.1417G>A,p.V473M |
| PCSK2(NM_002594,proprotein convertase subtilisin/kexin type 2,638aa) | g.20:17240936G>T,c.229G>T,p.A77S |
| PCSK2(NM_002594,proprotein convertase subtilisin/kexin type 2,638aa) | g.20:17208072G>C,c.122G>C,p.G41A |
| PCSK1(NM_000439,proprotein convertase subtilisin/kexin type 1,753aa) | g.5:95764963C>T,c.239G>A,p.R80Q |