基因名 |
突变 |
STARD8(NM_001142503,StAR-related lipid transfer (START) domain containing 8,1103aa) |
g.X:67938040A>C,c.1284A>C,p.E428D |
STARD8(NM_001142503,StAR-related lipid transfer (START) domain containing 8,1103aa) |
g.X:67937976G>A,c.1220G>A,p.R407Q |
STARD8(NM_001142503,StAR-related lipid transfer (START) domain containing 8,1103aa) |
g.X:67937855G>A,c.1099G>A,p.V367I |
STARD8(NM_001142503,StAR-related lipid transfer (START) domain containing 8,1103aa) |
g.X:67937502G>A,c.746G>A,p.R249H |
STARD8(NM_001142503,StAR-related lipid transfer (START) domain containing 8,1103aa) |
g.X:67932779G>A,c.103G>A,p.E35K |
STARD7(NM_020151,StAR-related lipid transfer (START) domain containing 7,370aa) |
g.2:96874145A>C,c.28T>G,p.W10G |
STARD7(NM_020151,StAR-related lipid transfer (START) domain containing 7,370aa) |
g.2:96861159C>G,c.419G>C,p.R140P |
STARD7(NM_020151,StAR-related lipid transfer (START) domain containing 7,370aa) |
g.2:96860703T>C,c.542A>G,p.N181S |
STARD6(NM_139171,StAR-related lipid transfer (START) domain containing 6,220aa) |
g.18:51880889G>A,c.55C>T,p.R19X |
STARD6(NM_139171,StAR-related lipid transfer (START) domain containing 6,220aa) |
g.18:51863542A>G,c.220T>C,p.W74R |
STARD6(NM_139171,StAR-related lipid transfer (START) domain containing 6,220aa) |
g.18:51858193C>A,c.304G>T,p.A102S |
STARD6(NM_139171,StAR-related lipid transfer (START) domain containing 6,220aa) |
g.18:51855721C>T,c.475G>A,p.E159K |
STARD6(NM_139171,StAR-related lipid transfer (START) domain containing 6,220aa) |
g.18:51855718C>T,c.478G>A,p.E160K |
STARD6(NM_139171,StAR-related lipid transfer (START) domain containing 6,220aa) |
g.18:51851090C>T,c.635G>A,p.R212H |
STARD5(NM_181900,StAR-related lipid transfer (START) domain containing 5,213aa) |
g.15:81614805G>A,c.226C>T,p.R76X |
STARD5(NM_181900,StAR-related lipid transfer (START) domain containing 5,213aa) |
g.15:81614802C>T,c.229G>A,p.V77M |
STARD5(NM_181900,StAR-related lipid transfer (START) domain containing 5,213aa) |
g.15:81611721A>G,c.359T>C,p.V120A |
STARD5(NM_181900,StAR-related lipid transfer (START) domain containing 5,213aa) |
g.15:81611692T>C,c.388A>G,p.I130V |
STARD5(NM_181900,StAR-related lipid transfer (START) domain containing 5,213aa) |
g.15:81610777C>A,c.467G>T,p.C156F |
STARD5(NM_181900,StAR-related lipid transfer (START) domain containing 5,213aa) |
g.15:81605710G>A,c.529C>T,p.H177Y |
STARD5(NM_181900,StAR-related lipid transfer (START) domain containing 5,213aa) |
g.15:81605655C>T,c.584G>A,p.R195H |
STARD4(NM_139164,StAR-related lipid transfer (START) domain containing 4,205aa) |
g.5:110843028G>A,c.104C>T,p.T35M |
STARD3(NM_001165937,StAR-related lipid transfer (START) domain containing 3,445aa) |
g.17:37819056del,c.1234-1del,p.412Acceptordel |
STARD3(NM_001165937,StAR-related lipid transfer (START) domain containing 3,445aa) |
g.17:37817323C>T,c.1124C>T,p.T375M |
STARD3(NM_001165937,StAR-related lipid transfer (START) domain containing 3,445aa) |
g.17:37817254G>A,c.1055G>A,p.R352H |
STARD3(NM_001165937,StAR-related lipid transfer (START) domain containing 3,445aa) |
g.17:37817129G>A,c.1021G>A,p.V341M |
STARD3(NM_001165937,StAR-related lipid transfer (START) domain containing 3,445aa) |
g.17:37816702G>C,c.877G>C,p.A293P |
STARD3(NM_001165937,StAR-related lipid transfer (START) domain containing 3,445aa) |
g.17:37815761C>G,c.750C>G,p.D250E |