基因名 |
突变 |
ACOX3(NM_003501,acyl-CoA oxidase 3, pristanoyl,700aa) |
g.4:8416586T>G,c.448A>C,p.M150L |
ACOX3(NM_003501,acyl-CoA oxidase 3, pristanoyl,700aa) |
g.4:8416045T>C,c.517A>G,p.T173A |
ACOX3(NM_003501,acyl-CoA oxidase 3, pristanoyl,700aa) |
g.4:8416033C>T,c.529G>A,p.D177N |
ACOX3(NM_003501,acyl-CoA oxidase 3, pristanoyl,700aa) |
g.4:8401375C>T,c.781G>A,p.A261T |
ACOX3(NM_003501,acyl-CoA oxidase 3, pristanoyl,700aa) |
g.4:8398837G>A,c.883C>T,p.Q295X |
ACOX3(NM_003501,acyl-CoA oxidase 3, pristanoyl,700aa) |
g.4:8396462C>T,c.1064G>A,p.R355H |
ACOX3(NM_003501,acyl-CoA oxidase 3, pristanoyl,700aa) |
g.4:8394168G>A,c.1192C>T,p.R398C |
ACOX3(NM_003501,acyl-CoA oxidase 3, pristanoyl,700aa) |
g.4:8394093G>A,c.1267C>T,p.R423W |
ACOX3(NM_003501,acyl-CoA oxidase 3, pristanoyl,700aa) |
g.4:8391455C>T,c.1307G>A,p.R436Q |
ACOX3(NM_003501,acyl-CoA oxidase 3, pristanoyl,700aa) |
g.4:8390948C>T,c.1489G>A,p.D497N |
ACOX3(NM_003501,acyl-CoA oxidase 3, pristanoyl,700aa) |
g.4:8372685C>T,c.1933G>A,p.A645T |
ACOX2(NM_003500,acyl-CoA oxidase 2, branched chain,681aa) |
g.3:58520731G>A,c.103C>T,p.R35W |
ACOX2(NM_003500,acyl-CoA oxidase 2, branched chain,681aa) |
g.3:58520183C>T,c.227G>A,p.R76H |
ACOX2(NM_003500,acyl-CoA oxidase 2, branched chain,681aa) |
g.3:58520165C>T,c.245G>A,p.R82Q |
ACOX2(NM_003500,acyl-CoA oxidase 2, branched chain,681aa) |
g.3:58520093G>A,c.317C>T,p.A106V |
ACOX2(NM_003500,acyl-CoA oxidase 2, branched chain,681aa) |
g.3:58519751C>T,c.445G>A,p.A149T |
ACOX2(NM_003500,acyl-CoA oxidase 2, branched chain,681aa) |
g.3:58519732_58519735del,c.461_464del,p.154fs |
ACOX2(NM_003500,acyl-CoA oxidase 2, branched chain,681aa) |
g.3:58517450G>A,c.673C>T,p.R225W |
ACOX2(NM_003500,acyl-CoA oxidase 2, branched chain,681aa) |
g.3:58517084A>G,c.713T>C,p.I238T |
ACOX2(NM_003500,acyl-CoA oxidase 2, branched chain,681aa) |
g.3:58516239C>T,c.946G>A,p.A316T |
ACOX2(NM_003500,acyl-CoA oxidase 2, branched chain,681aa) |
g.3:58510207G>C,c.1472C>G,p.A491G |
ACOX2(NM_003500,acyl-CoA oxidase 2, branched chain,681aa) |
g.3:58502943G>A,c.1840C>T,p.R614C |
ACOX2(NM_003500,acyl-CoA oxidase 2, branched chain,681aa) |
g.3:58490989T>C,c.2008A>G,p.I670V |
ACOX1(NM_001185039,acyl-CoA oxidase 1, palmitoyl,622aa) |
g.17:73953614G>A,c.350C>T,p.T117M |
ACOX1(NM_001185039,acyl-CoA oxidase 1, palmitoyl,622aa) |
g.17:73951993G>T,c.460C>A,p.Q154K |
ACOX1(NM_001185039,acyl-CoA oxidase 1, palmitoyl,622aa) |
g.17:73949540G>C,c.822C>G,p.I274M |
ACOX1(NM_001185039,acyl-CoA oxidase 1, palmitoyl,622aa) |
g.17:73945595T>C,c.1451A>G,p.D484G |
ACOT9(NM_001037171,acyl-CoA thioesterase 9,448aa) |
g.X:23731310A>G,c.604T>C,p.F202L |