| 基因名 | 突变 |
|---|---|
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42935216C>T,c.1774G>A,p.E592K |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42935188C>T,c.1802G>A,p.R601Q |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42934365C>G,c.1992G>C,p.E664D |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42933464G>A,c.2426C>T,p.A809V |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42933054C>T,c.2524G>A,p.V842M |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42933047A>G,c.2531T>C,p.V844A |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42932853G>A,c.2626C>T,p.R876W |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42932835C>T,c.2644G>A,p.V882I |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42932200G>T,c.2816C>A,p.P939Q |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42932149G>A,c.2867C>T,p.A956V |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42932080G>A,c.2936C>T,p.A979V |
| PEX5(NM_001131025,peroxisomal biogenesis factor 5,639aa) | g.12:7362775C>T,c.1876C>T,p.R626W |
| PEX5(NM_001131025,peroxisomal biogenesis factor 5,639aa) | g.12:7362772G>A,c.1873G>A,p.A625T |
| PEX5(NM_001131025,peroxisomal biogenesis factor 5,639aa) | g.12:7362358G>A,c.1640G>A,p.R547Q |
| PEX5(NM_001131025,peroxisomal biogenesis factor 5,639aa) | g.12:7362355G>A,c.1637G>A,p.R546H |
| PEX5(NM_001131025,peroxisomal biogenesis factor 5,639aa) | g.12:7361765A>G,c.1559A>G,p.N520S |
| PEX5(NM_001131025,peroxisomal biogenesis factor 5,639aa) | g.12:7361758C>T,c.1552C>T,p.R518C |
| PEX5(NM_001131025,peroxisomal biogenesis factor 5,639aa) | g.12:7361240C>T,c.1369C>T,p.R457C |
| PEX5(NM_001131025,peroxisomal biogenesis factor 5,639aa) | g.12:7360672C>T,c.1177C>T,p.R393W |
| PEX5(NM_001131025,peroxisomal biogenesis factor 5,639aa) | g.12:7360358del,c.1070del,p.357fs |
| PEX5(NM_001131025,peroxisomal biogenesis factor 5,639aa) | g.12:7355269T>C,c.815T>C,p.M272T |
| PEX5(NM_001131025,peroxisomal biogenesis factor 5,639aa) | g.12:7355265G>A,c.811G>A,p.D271N |
| PEX5(NM_001131025,peroxisomal biogenesis factor 5,639aa) | g.12:7354852C>T,c.658C>T,p.R220W |
| PEX5(NM_001131025,peroxisomal biogenesis factor 5,639aa) | g.12:7354399G>C,c.604G>C,p.V202L |
| PEX5(NM_001131025,peroxisomal biogenesis factor 5,639aa) | g.12:7354385C>T,c.590C>T,p.T197M |
| PEX5(NM_001131025,peroxisomal biogenesis factor 5,639aa) | g.12:7351610C>G,c.452C>G,p.P151R |
| PEX5L(NM_016559,peroxisomal biogenesis factor 5-like,626aa) | g.3:179615983T>G,c.145A>C,p.I49L |
| PEX5L(NM_016559,peroxisomal biogenesis factor 5-like,626aa) | g.3:179597912C>A,c.311-1G>T,p.104Acceptor |