| 基因名 | 突变 |
|---|---|
| PEX14(NM_004565,peroxisomal biogenesis factor 14,377aa) | g.1:10535049A>T,c.26A>T,p.Q9L |
| PEX13(NM_002618,peroxisomal biogenesis factor 13,403aa) | g.2:61275873A>T,c.1180A>T,p.I394F |
| PEX13(NM_002618,peroxisomal biogenesis factor 13,403aa) | g.2:61275771C>G,c.1078C>G,p.L360V |
| PEX13(NM_002618,peroxisomal biogenesis factor 13,403aa) | g.2:61258816G>A,c.355G>A,p.V119I |
| PEX12(NM_000286,peroxisomal biogenesis factor 12,359aa) | g.17:33905000G>T,c.41C>A,p.A14D |
| PEX12(NM_000286,peroxisomal biogenesis factor 12,359aa) | g.17:33904939T>A,c.102A>T,p.R34S |
| PEX12(NM_000286,peroxisomal biogenesis factor 12,359aa) | g.17:33904102T>C,c.635A>G,p.E212G |
| PEX12(NM_000286,peroxisomal biogenesis factor 12,359aa) | g.17:33903159C>A,c.722G>T,p.G241V |
| PEX12(NM_000286,peroxisomal biogenesis factor 12,359aa) | g.17:33902976G>A,c.905C>T,p.T302I |
| PEX11G(NM_080662,peroxisomal biogenesis factor 11 gamma,241aa) | g.19:7553859G>T,c.38C>A,p.S13X |
| PEX11G(NM_080662,peroxisomal biogenesis factor 11 gamma,241aa) | g.19:7547074A>C,c.273T>G,p.C91W |
| PEX11G(NM_080662,peroxisomal biogenesis factor 11 gamma,241aa) | g.19:7542168G>A,c.646C>T,p.L216F |
| PEX11G(NM_080662,peroxisomal biogenesis factor 11 gamma,241aa) | g.19:7542128G>A,c.686C>T,p.A229V |
| PEX11B(NM_003846,peroxisomal biogenesis factor 11 beta,259aa) | g.1:145522711G>A,c.572G>A,p.R191Q |
| PEX11B(NM_003846,peroxisomal biogenesis factor 11 beta,259aa) | g.1:145522603G>A,c.464G>A,p.R155Q |
| PEX11B(NM_003846,peroxisomal biogenesis factor 11 beta,259aa) | g.1:145522597G>A,c.458G>A,p.C153Y |
| PEX11A(NM_003847,peroxisomal biogenesis factor 11 alpha,247aa) | g.15:90233850G>A,c.14C>T,p.T5I |
| PEX11A(NM_003847,peroxisomal biogenesis factor 11 alpha,247aa) | g.15:90229737C>T,c.97G>A,p.E33K |
| PEX11A(NM_003847,peroxisomal biogenesis factor 11 alpha,247aa) | g.15:90226993C>T,c.359G>A,p.R120Q |
| PEX11A(NM_003847,peroxisomal biogenesis factor 11 alpha,247aa) | g.15:90226867T>C,c.485A>G,p.Q162R |
| PEX10(NM_153818,peroxisomal biogenesis factor 10,346aa) | g.1:2340056C>T,c.435G>A,p.M145I |
| PEX10(NM_153818,peroxisomal biogenesis factor 10,346aa) | g.1:2340039G>A,c.452C>T,p.T151I |
| PEX10(NM_153818,peroxisomal biogenesis factor 10,346aa) | g.1:2339904G>A,c.587C>T,p.T196M |
| PEX10(NM_153818,peroxisomal biogenesis factor 10,346aa) | g.1:2338324C>T,c.671G>A,p.R224H |
| PEX10(NM_153818,peroxisomal biogenesis factor 10,346aa) | g.1:2338250C>G,c.745G>C,p.V249L |
| PEX10(NM_153818,peroxisomal biogenesis factor 10,346aa) | g.1:2338223C>G,c.772G>C,p.G258R |
| PEX10(NM_153818,peroxisomal biogenesis factor 10,346aa) | g.1:2338210C>T,c.785G>A,p.R262Q |
| PEX10(NM_153818,peroxisomal biogenesis factor 10,346aa) | g.1:2338015T>C,c.880A>G,p.T294A |