基因名 |
突变 |
STARD3(NM_001165937,StAR-related lipid transfer (START) domain containing 3,445aa) |
g.17:37815304G>C,c.647G>C,p.G216A |
STARD3(NM_001165937,StAR-related lipid transfer (START) domain containing 3,445aa) |
g.17:37815025G>A,c.598G>A,p.G200S |
STARD3(NM_001165937,StAR-related lipid transfer (START) domain containing 3,445aa) |
g.17:37814687G>A,c.446G>A,p.C149Y |
STARD3(NM_001165937,StAR-related lipid transfer (START) domain containing 3,445aa) |
g.17:37814234G>A,c.371G>A,p.R124H |
STARD3(NM_001165937,StAR-related lipid transfer (START) domain containing 3,445aa) |
g.17:37814086G>A,c.356G>A,p.R119Q |
STARD3(NM_001165937,StAR-related lipid transfer (START) domain containing 3,445aa) |
g.17:37814080G>A,c.350G>A,p.R117Q |
STARD3NL(NM_032016,STARD3 N-terminal like,234aa) |
g.7:38268429A>G,c.679A>G,p.S227G |
STARD13(NM_001243476,StAR-related lipid transfer (START) domain containing 13,1078aa) |
g.13:34013847G>C,c.45C>G,p.N15K |
STARD13(NM_001243476,StAR-related lipid transfer (START) domain containing 13,1078aa) |
g.13:33739477C>A,c.215G>T,p.C72F |
STARD13(NM_001243476,StAR-related lipid transfer (START) domain containing 13,1078aa) |
g.13:33704290G>A,c.419C>T,p.T140M |
STARD13(NM_001243476,StAR-related lipid transfer (START) domain containing 13,1078aa) |
g.13:33704065T>C,c.644A>G,p.K215R |
STARD13(NM_001243476,StAR-related lipid transfer (START) domain containing 13,1078aa) |
g.13:33703997C>T,c.712G>A,p.G238R |
STARD13(NM_001243476,StAR-related lipid transfer (START) domain containing 13,1078aa) |
g.13:33703666C>G,c.1043G>C,p.R348P |
STARD13(NM_001243476,StAR-related lipid transfer (START) domain containing 13,1078aa) |
g.13:33703481G>A,c.1228C>T,p.R410W |
STARD13(NM_001243476,StAR-related lipid transfer (START) domain containing 13,1078aa) |
g.13:33703450C>T,c.1259G>A,p.R420Q |
STARD13(NM_001243476,StAR-related lipid transfer (START) domain containing 13,1078aa) |
g.13:33703274G>C,c.1435C>G,p.H479D |
STARD13(NM_001243476,StAR-related lipid transfer (START) domain containing 13,1078aa) |
g.13:33701606G>A,c.1721C>T,p.T574M |
STARD13(NM_001243476,StAR-related lipid transfer (START) domain containing 13,1078aa) |
g.13:33700340C>T,c.1855G>A,p.D619N |
STARD13(NM_001243476,StAR-related lipid transfer (START) domain containing 13,1078aa) |
g.13:33700285G>A,c.1910C>T,p.T637M |
STARD13(NM_001243476,StAR-related lipid transfer (START) domain containing 13,1078aa) |
g.13:33692322C>T,c.2056G>A,p.V686I |
STARD13(NM_001243476,StAR-related lipid transfer (START) domain containing 13,1078aa) |
g.13:33686980C>A,c.2265G>T,p.L755F |
STARD13(NM_001243476,StAR-related lipid transfer (START) domain containing 13,1078aa) |
g.13:33684218C>T,c.2734G>A,p.G912R |
STARD13(NM_001243476,StAR-related lipid transfer (START) domain containing 13,1078aa) |
g.13:33680976A>T,c.3038T>A,p.V1013E |
STARD10(NM_006645,StAR-related lipid transfer (START) domain containing 10,291aa) |
g.11:72470415C>G,c.219G>C,p.E73D |
STARD10(NM_006645,StAR-related lipid transfer (START) domain containing 10,291aa) |
g.11:72466156T>C,c.662A>G,p.K221R |
STAP2(NM_017720,signal transducing adaptor family member 2,449aa) |
g.19:4334001A>G,c.143T>C,p.I48T |
STAP2(NM_017720,signal transducing adaptor family member 2,449aa) |
g.19:4333711C>T,c.277G>A,p.D93N |
STAP2(NM_017720,signal transducing adaptor family member 2,449aa) |
g.19:4332024C>T,c.349G>A,p.V117M |