| 基因名 | 突变 |
|---|---|
| PEX1(NM_000466,peroxisomal biogenesis factor 1,1283aa) | g.7:92140324C>G,c.1521G>C,p.W507C |
| PEX1(NM_000466,peroxisomal biogenesis factor 1,1283aa) | g.7:92140279C>G,c.1566G>C,p.L522F |
| PEX1(NM_000466,peroxisomal biogenesis factor 1,1283aa) | g.7:92140266T>C,c.1579A>G,p.T527A |
| PEX1(NM_000466,peroxisomal biogenesis factor 1,1283aa) | g.7:92132493T>C,c.2088A>G,p.I696M |
| PEX1(NM_000466,peroxisomal biogenesis factor 1,1283aa) | g.7:92131228_92131229del,c.2391_2392del,p.797fs |
| PEX1(NM_000466,peroxisomal biogenesis factor 1,1283aa) | g.7:92129122G>A,c.2614C>T,p.R872X |
| PEX1(NM_000466,peroxisomal biogenesis factor 1,1283aa) | g.7:92129121C>T,c.2615G>A,p.R872Q |
| PEX1(NM_000466,peroxisomal biogenesis factor 1,1283aa) | g.7:92123935G>T,c.2792C>A,p.A931D |
| PEX1(NM_000466,peroxisomal biogenesis factor 1,1283aa) | g.7:92123671A>G,c.2966T>C,p.I989T |
| PEX1(NM_000466,peroxisomal biogenesis factor 1,1283aa) | g.7:92122443C>T,c.3031G>A,p.V1011M |
| PEX1(NM_000466,peroxisomal biogenesis factor 1,1283aa) | g.7:92120651T>A,c.3373A>T,p.M1125L |
| PEX1(NM_000466,peroxisomal biogenesis factor 1,1283aa) | g.7:92116799C>T,c.3824G>A,p.R1275Q |
| PEX19(NM_002857,peroxisomal biogenesis factor 19,299aa) | g.1:160253385G>A,c.115C>T,p.P39S |
| PEX19(NM_002857,peroxisomal biogenesis factor 19,299aa) | g.1:160252809T>C,c.271A>G,p.M91V |
| PEX19(NM_002857,peroxisomal biogenesis factor 19,299aa) | g.1:160251925A>C,c.498T>G,p.D166E |
| PEX16(NM_004813,peroxisomal biogenesis factor 16,336aa) | g.11:45937386G>A,c.227C>T,p.S76L |
| PEX16(NM_004813,peroxisomal biogenesis factor 16,336aa) | g.11:45937306C>T,c.307G>A,p.V103M |
| PEX16(NM_004813,peroxisomal biogenesis factor 16,336aa) | g.11:45937267C>T,c.346G>A,p.V116I |
| PEX16(NM_004813,peroxisomal biogenesis factor 16,336aa) | g.11:45936019G>A,c.542C>T,p.T181M |
| PEX16(NM_004813,peroxisomal biogenesis factor 16,336aa) | g.11:45935951C>T,c.610G>A,p.E204K |
| PEX16(NM_004813,peroxisomal biogenesis factor 16,336aa) | g.11:45935926G>C,c.635C>G,p.P212R |
| PEX16(NM_004813,peroxisomal biogenesis factor 16,336aa) | g.11:45935689C>G,c.760G>C,p.V254L |
| PEX14(NM_004565,peroxisomal biogenesis factor 14,377aa) | g.1:10689903T>G,c.993T>G,p.D331E |
| PEX14(NM_004565,peroxisomal biogenesis factor 14,377aa) | g.1:10689770C>T,c.860C>T,p.T287M |
| PEX14(NM_004565,peroxisomal biogenesis factor 14,377aa) | g.1:10689676G>A,c.766G>A,p.V256M |
| PEX14(NM_004565,peroxisomal biogenesis factor 14,377aa) | g.1:10684484C>G,c.575C>G,p.A192G |
| PEX14(NM_004565,peroxisomal biogenesis factor 14,377aa) | g.1:10683166G>A,c.475G>A,p.V159M |
| PEX14(NM_004565,peroxisomal biogenesis factor 14,377aa) | g.1:10659333T>G,c.208T>G,p.S70A |