| 基因名 | 突变 |
|---|---|
| PCSK7(NM_004716,proprotein convertase subtilisin/kexin type 7,785aa) | g.11:117079654A>T,c.1650T>A,p.S550R |
| PCSK7(NM_004716,proprotein convertase subtilisin/kexin type 7,785aa) | g.11:117079626G>C,c.1678C>G,p.R560G |
| PCSK7(NM_004716,proprotein convertase subtilisin/kexin type 7,785aa) | g.11:117079612C>T,c.1691+1G>A,p.564Donor |
| PCSK7(NM_004716,proprotein convertase subtilisin/kexin type 7,785aa) | g.11:117077793C>T,c.1870G>A,p.D624N |
| PCSK7(NM_004716,proprotein convertase subtilisin/kexin type 7,785aa) | g.11:117076972C>A,c.2099G>T,p.R700M |
| PCSK7(NM_004716,proprotein convertase subtilisin/kexin type 7,785aa) | g.11:117076940G>A,c.2131C>T,p.R711W |
| PCSK7(NM_004716,proprotein convertase subtilisin/kexin type 7,785aa) | g.11:117076843G>T,c.2228C>A,p.T743N |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78973494A>T,c.5239A>T,p.I1747F |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78973431G>A,c.5176G>A,p.E1726K |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78969059C>A,c.5097C>A,p.D1699E |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78953217G>A,c.4739G>A,p.R1580Q |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78953171C>T,c.4693C>T,p.R1565W |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78947501G>A,c.4642G>A,p.E1548K |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78943138T>G,c.4472T>G,p.M1491R |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78943062C>T,c.4396C>T,p.P1466S |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78942946C>T,c.4280C>T,p.T1427I |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78942944G>C,c.4278G>C,p.L1426F |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78938186G>C,c.4240G>C,p.E1414Q |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78938043G>A,c.4097G>A,p.R1366H |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78937974C>T,c.4028C>T,p.T1343M |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78936492A>G,c.3958A>G,p.K1320E |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78936438G>A,c.3904G>A,p.V1302I |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78936358G>A,c.3824G>A,p.G1275D |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78923589_78923591del,c.3552_3554del,p.1184_1185del |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78911664G>A,c.3406G>A,p.E1136K |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78910273G>A,c.3268G>A,p.G1090S |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78910241A>C,c.3236A>C,p.E1079A |
| PCSK5(NM_001190482,proprotein convertase subtilisin/kexin type 5,1860aa) | g.9:78854040C>T,c.3032C>T,p.A1011V |