| 基因名 | 突变 |
|---|---|
| SEC22C(NM_032970,SEC22 vesicle trafficking protein homolog C (S. cerevisiae),303aa) | g.3:42602773T>C,c.362A>G,p.K121R |
| SEC22C(NM_032970,SEC22 vesicle trafficking protein homolog C (S. cerevisiae),303aa) | g.3:42599171C>T,c.544G>A,p.E182K |
| SEC22B(NM_004892,SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene),215aa) | g.1:145116319G>T,c.*418-1G>T,p.3'UTRAcceptor |
| SEC22B(NM_004892,SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene),215aa) | g.1:145115883G>T,c.642G>T,p.W214C |
| SEC22B(NM_004892,SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene),215aa) | g.1:145115815A>C,c.574A>C,p.T192P |
| SEC22B(NM_004892,SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene),215aa) | g.1:145115810A>G,c.569A>G,p.H190R |
| SEC22B(NM_004892,SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene),215aa) | g.1:145112501C>T,c.475C>T,p.R159X |
| SEC22B(NM_004892,SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene),215aa) | g.1:145112420C>T,c.394C>T,p.R132X |
| SEC22B(NM_004892,SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene),215aa) | g.1:145112414T>C,c.388T>C,p.C130R |
| SEC22B(NM_004892,SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene),215aa) | g.1:145109661G>A,c.323G>A,p.R108Q |
| SEC22B(NM_004892,SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene),215aa) | g.1:145109583C>A,c.245C>A,p.T82K |
| SEC22B(NM_004892,SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene),215aa) | g.1:145109549G>T,c.211G>T,p.D71Y |
| SEC22B(NM_004892,SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene),215aa) | g.1:145103956C>T,c.124C>T,p.R42X |
| SEC22B(NM_004892,SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene),215aa) | g.1:145103947T>C,c.115T>C,p.X39Q |
| SEC22A(NM_012430,SEC22 vesicle trafficking protein homolog A (S. cerevisiae),307aa) | g.3:122990465C>T,c.820C>T,p.R274C |
| SEC22A(NM_012430,SEC22 vesicle trafficking protein homolog A (S. cerevisiae),307aa) | g.3:122928119T>A,c.55T>A,p.S19T |
| SEC16B(NM_033127,SEC16 homolog B (S. cerevisiae),1060aa) | g.1:177937079C>T,c.38G>A,p.R13Q |
| SEC16B(NM_033127,SEC16 homolog B (S. cerevisiae),1060aa) | g.1:177937016C>T,c.101G>A,p.R34Q |
| SEC16B(NM_033127,SEC16 homolog B (S. cerevisiae),1060aa) | g.1:177936996G>C,c.121C>G,p.H41D |
| SEC16B(NM_033127,SEC16 homolog B (S. cerevisiae),1060aa) | g.1:177936849C>T,c.268G>A,p.E90K |
| SEC16B(NM_033127,SEC16 homolog B (S. cerevisiae),1060aa) | g.1:177936837G>A,c.280C>T,p.R94C |
| SEC16B(NM_033127,SEC16 homolog B (S. cerevisiae),1060aa) | g.1:177936836C>T,c.281G>A,p.R94H |
| SEC16B(NM_033127,SEC16 homolog B (S. cerevisiae),1060aa) | g.1:177930769C>T,c.743G>A,p.R248Q |
| SEC16B(NM_033127,SEC16 homolog B (S. cerevisiae),1060aa) | g.1:177929987T>C,c.875A>G,p.H292R |
| SEC16B(NM_033127,SEC16 homolog B (S. cerevisiae),1060aa) | g.1:177929501C>G,c.974G>C,p.R325T |
| SEC16B(NM_033127,SEC16 homolog B (S. cerevisiae),1060aa) | g.1:177927479T>C,c.1153A>G,p.I385V |
| SEC16B(NM_033127,SEC16 homolog B (S. cerevisiae),1060aa) | g.1:177921119G>A,c.1475C>T,p.T492M |
| SEC16B(NM_033127,SEC16 homolog B (S. cerevisiae),1060aa) | g.1:177917055C>T,c.1568G>A,p.G523E |