| 基因名 | 突变 |
|---|---|
| ACP2(NM_001610,acid phosphatase 2, lysosomal,423aa) | g.11:47264339G>A,c.1073C>T,p.T358I |
| ACP2(NM_001610,acid phosphatase 2, lysosomal,423aa) | g.11:47261762A>G,c.1177T>C,p.F393L |
| ACP1(NM_004300,acid phosphatase 1, soluble,158aa) | g.2:277003A>G,c.317A>G,p.Q106R |
| ACP1(NM_004300,acid phosphatase 1, soluble,158aa) | g.2:264981C>T,c.17C>T,p.T6I |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111875388C>T,c.1738C>T,p.L580F |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111875379G>T,c.1729G>T,p.G577X |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111850515C>T,c.1514C>T,p.P505L |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111850512C>T,c.1511C>T,p.T504I |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111806832T>A,c.1407T>A,p.C469X |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111753552C>T,c.1252C>T,p.R418W |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111691199C>T,c.1039C>T,p.R347C |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111691181C>T,c.1021C>T,p.R341C |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111666368G>A,c.791G>A,p.R264Q |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111666367C>T,c.790C>T,p.R264W |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111598983G>A,c.788+1G>A,p.263Donor |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111598958C>T,c.764C>T,p.T255M |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111562932C>T,c.713C>T,p.S238L |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111562875C>T,c.656C>T,p.S219L |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111559231C>A,c.550C>A,p.L184M |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111556617C>T,c.487C>T,p.R163W |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111556245T>C,c.404T>C,p.M135T |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111551725G>A,c.319G>A,p.E107K |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111551708C>T,c.302C>T,p.A101V |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111551680A>G,c.274A>G,p.M92V |
| ACOXL(NM_001142807,acyl-CoA oxidase-like,580aa) | g.2:111551272G>T,c.205G>T,p.G69X |
| ACOX3(NM_003501,acyl-CoA oxidase 3, pristanoyl,700aa) | g.4:8418148T>G,c.101A>C,p.E34A |
| ACOX3(NM_003501,acyl-CoA oxidase 3, pristanoyl,700aa) | g.4:8417560G>A,c.311C>T,p.P104L |
| ACOX3(NM_003501,acyl-CoA oxidase 3, pristanoyl,700aa) | g.4:8416589T>C,c.445A>G,p.R149G |