| 基因名 | 突变 |
|---|---|
| SCYL1(NM_020680,SCY1-like 1 (S. cerevisiae),808aa) | g.11:65294285A>C,c.634A>C,p.I212L |
| SCYL1(NM_020680,SCY1-like 1 (S. cerevisiae),808aa) | g.11:65293779C>T,c.560C>T,p.P187L |
| SCYL1(NM_020680,SCY1-like 1 (S. cerevisiae),808aa) | g.11:65293512G>A,c.373G>A,p.V125M |
| SCUBE3(NM_152753,signal peptide, CUB domain, EGF-like 3,993aa) | g.6:35212504G>A,c.2317G>A,p.D773N |
| SCUBE3(NM_152753,signal peptide, CUB domain, EGF-like 3,993aa) | g.6:35210957G>A,c.1853G>A,p.R618Q |
| SCUBE3(NM_152753,signal peptide, CUB domain, EGF-like 3,993aa) | g.6:35210477G>A,c.1613G>A,p.R538Q |
| SCUBE3(NM_152753,signal peptide, CUB domain, EGF-like 3,993aa) | g.6:35210476C>T,c.1612C>T,p.R538W |
| SCUBE3(NM_152753,signal peptide, CUB domain, EGF-like 3,993aa) | g.6:35210041G>A,c.1478G>A,p.R493H |
| SCUBE3(NM_152753,signal peptide, CUB domain, EGF-like 3,993aa) | g.6:35209353C>T,c.1229C>T,p.S410L |
| SCUBE3(NM_152753,signal peptide, CUB domain, EGF-like 3,993aa) | g.6:35208974C>T,c.1126C>T,p.P376S |
| SCUBE3(NM_152753,signal peptide, CUB domain, EGF-like 3,993aa) | g.6:35201057A>G,c.691A>G,p.T231A |
| SCUBE2(NM_020974,signal peptide, CUB domain, EGF-like 2,971aa) | g.11:9113009_9113011del,c.65_67del,p.22_23del |
| SCUBE2(NM_020974,signal peptide, CUB domain, EGF-like 2,971aa) | g.11:9113002A>G,c.74T>C,p.L25P |
| SCUBE2(NM_020974,signal peptide, CUB domain, EGF-like 2,971aa) | g.11:9087524C>T,c.764G>A,p.R255Q |
| SCUBE2(NM_020974,signal peptide, CUB domain, EGF-like 2,971aa) | g.11:9082068G>A,c.854C>T,p.T285M |
| SCUBE2(NM_020974,signal peptide, CUB domain, EGF-like 2,971aa) | g.11:9074726C>T,c.1367G>A,p.R456H |
| SCUBE2(NM_020974,signal peptide, CUB domain, EGF-like 2,971aa) | g.11:9069046G>A,c.1859C>T,p.T620M |
| SCUBE2(NM_020974,signal peptide, CUB domain, EGF-like 2,971aa) | g.11:9069032C>T,c.1873G>A,p.V625I |
| SCUBE2(NM_020974,signal peptide, CUB domain, EGF-like 2,971aa) | g.11:9052423A>C,c.2052T>G,p.H684Q |
| SCUBE2(NM_020974,signal peptide, CUB domain, EGF-like 2,971aa) | g.11:9051475G>C,c.2288C>G,p.T763S |
| SCUBE2(NM_020974,signal peptide, CUB domain, EGF-like 2,971aa) | g.11:9048997G>C,c.2444C>G,p.P815R |
| SCUBE2(NM_020974,signal peptide, CUB domain, EGF-like 2,971aa) | g.11:9048991C>T,c.2450G>A,p.R817H |
| SCUBE2(NM_020974,signal peptide, CUB domain, EGF-like 2,971aa) | g.11:9048947C>T,c.2494G>A,p.D832N |
| SCUBE2(NM_020974,signal peptide, CUB domain, EGF-like 2,971aa) | g.11:9047248C>G,c.2683+1G>C,p.895Donor |
| SCUBE1(NM_173050,signal peptide, CUB domain, EGF-like 1,988aa) | g.22:43735230C>T,c.100G>A,p.V34M |
| SCUBE1(NM_173050,signal peptide, CUB domain, EGF-like 1,988aa) | g.22:43735185T>C,c.145A>G,p.I49V |
| SCUBE1(NM_173050,signal peptide, CUB domain, EGF-like 1,988aa) | g.22:43735172G>A,c.158C>T,p.T53M |
| SCUBE1(NM_173050,signal peptide, CUB domain, EGF-like 1,988aa) | g.22:43634883C>T,c.805G>A,p.V269I |