| 基因名 | 突变 |
|---|---|
| SEC24A(NM_021982,SEC24 family, member A (S. cerevisiae),1093aa) | g.5:134015413A>G,c.1376A>G,p.N459S |
| SEC24A(NM_021982,SEC24 family, member A (S. cerevisiae),1093aa) | g.5:133997171C>T,c.460C>T,p.R154C |
| SEC24A(NM_021982,SEC24 family, member A (S. cerevisiae),1093aa) | g.5:133997007C>T,c.296C>T,p.S99L |
| SEC23IP(NM_007190,SEC23 interacting protein,1000aa) | g.10:121689188A>G,c.2383A>G,p.M795V |
| SEC23IP(NM_007190,SEC23 interacting protein,1000aa) | g.10:121689160A>G,c.2355A>G,p.I785M |
| SEC23IP(NM_007190,SEC23 interacting protein,1000aa) | g.10:121685689G>A,c.2263G>A,p.V755M |
| SEC23IP(NM_007190,SEC23 interacting protein,1000aa) | g.10:121685654A>G,c.2228A>G,p.N743S |
| SEC23IP(NM_007190,SEC23 interacting protein,1000aa) | g.10:121679013A>G,c.1930A>G,p.K644E |
| SEC23IP(NM_007190,SEC23 interacting protein,1000aa) | g.10:121675296G>A,c.1439G>A,p.R480Q |
| SEC23IP(NM_007190,SEC23 interacting protein,1000aa) | g.10:121662335G>T,c.721G>T,p.A241S |
| SEC23IP(NM_007190,SEC23 interacting protein,1000aa) | g.10:121658407C>T,c.632C>T,p.A211V |
| SEC23IP(NM_007190,SEC23 interacting protein,1000aa) | g.10:121658400C>T,c.625C>T,p.P209S |
| SEC23IP(NM_007190,SEC23 interacting protein,1000aa) | g.10:121658098T>C,c.323T>C,p.V108A |
| SEC23B(NM_032985,Sec23 homolog B (S. cerevisiae),767aa) | g.20:18523036A>G,c.1501A>G,p.I501V |
| SEC23B(NM_032985,Sec23 homolog B (S. cerevisiae),767aa) | g.20:18523002C>G,c.1467C>G,p.H489Q |
| SEC23B(NM_032985,Sec23 homolog B (S. cerevisiae),767aa) | g.20:18513372C>T,c.1298C>T,p.P433L |
| SEC23B(NM_032985,Sec23 homolog B (S. cerevisiae),767aa) | g.20:18513350G>A,c.1276G>A,p.V426I |
| SEC23B(NM_032985,Sec23 homolog B (S. cerevisiae),767aa) | g.20:18511446A>G,c.1232A>G,p.K411R |
| SEC23B(NM_032985,Sec23 homolog B (S. cerevisiae),767aa) | g.20:18506512C>T,c.770C>T,p.T257I |
| SEC23B(NM_032985,Sec23 homolog B (S. cerevisiae),767aa) | g.20:18505200G>T,c.490G>T,p.V164L |
| SEC23B(NM_032985,Sec23 homolog B (S. cerevisiae),767aa) | g.20:18505153A>G,c.443A>G,p.K148R |
| SEC23B(NM_032985,Sec23 homolog B (S. cerevisiae),767aa) | g.20:18491553C>A,c.74C>A,p.P25H |
| SEC23B(NM_032985,Sec23 homolog B (S. cerevisiae),767aa) | g.20:18491519C>T,c.40C>T,p.R14W |
| SEC23A(NM_006364,Sec23 homolog A (S. cerevisiae),765aa) | g.14:39565241G>A,c.82C>T,p.R28X |
| SEC23A(NM_006364,Sec23 homolog A (S. cerevisiae),765aa) | g.14:39565145G>C,c.178C>G,p.L60V |
| SEC23A(NM_006364,Sec23 homolog A (S. cerevisiae),765aa) | g.14:39556185G>C,c.631C>G,p.L211V |
| SEC23A(NM_006364,Sec23 homolog A (S. cerevisiae),765aa) | g.14:39531047C>T,c.1427G>A,p.R476H |
| SEC22C(NM_032970,SEC22 vesicle trafficking protein homolog C (S. cerevisiae),303aa) | g.3:42610411C>T,c.128G>A,p.R43Q |