| 基因名 | 突变 |
|---|---|
| PEX10(NM_153818,peroxisomal biogenesis factor 10,346aa) | g.1:2338014G>A,c.881C>T,p.T294I |
| PEX10(NM_153818,peroxisomal biogenesis factor 10,346aa) | g.1:2337940C>T,c.955G>A,p.A319T |
| PEX10(NM_153818,peroxisomal biogenesis factor 10,346aa) | g.1:2337939G>A,c.956C>T,p.A319V |
| PET117(NM_001164811,PET117 homolog (S. cerevisiae),81aa) | g.20:18122912C>G,c.157C>G,p.R53G |
| PET117(NM_001164811,PET117 homolog (S. cerevisiae),81aa) | g.20:18122894C>T,c.139C>T,p.R47W |
| PET112(NM_004564,PET112 homolog (yeast),557aa) | g.4:152682115C>T,c.20G>A,p.R7H |
| PET112(NM_004564,PET112 homolog (yeast),557aa) | g.4:152682095G>A,c.40C>T,p.R14C |
| PET112(NM_004564,PET112 homolog (yeast),557aa) | g.4:152682046G>T,c.89C>A,p.A30D |
| PET112(NM_004564,PET112 homolog (yeast),557aa) | g.4:152680065T>A,c.186A>T,p.K62N |
| PET112(NM_004564,PET112 homolog (yeast),557aa) | g.4:152680054A>G,c.197T>C,p.V66A |
| PET112(NM_004564,PET112 homolog (yeast),557aa) | g.4:152679989G>A,c.262C>T,p.R88C |
| PET112(NM_004564,PET112 homolog (yeast),557aa) | g.4:152638123G>A,c.545C>T,p.T182M |
| PET112(NM_004564,PET112 homolog (yeast),557aa) | g.4:152638051G>A,c.617C>T,p.T206M |
| PET112(NM_004564,PET112 homolog (yeast),557aa) | g.4:152637229G>A,c.695C>T,p.A232V |
| PET112(NM_004564,PET112 homolog (yeast),557aa) | g.4:152629221C>T,c.796G>A,p.V266M |
| PET112(NM_004564,PET112 homolog (yeast),557aa) | g.4:152622623G>A,c.1055C>T,p.T352I |
| PET112(NM_004564,PET112 homolog (yeast),557aa) | g.4:152622569C>T,c.1109G>A,p.R370Q |
| PET112(NM_004564,PET112 homolog (yeast),557aa) | g.4:152622515T>C,c.1163A>G,p.Y388C |
| PET112(NM_004564,PET112 homolog (yeast),557aa) | g.4:152609830T>C,c.1283A>G,p.N428S |
| PET100(NM_001171155,PET100 homolog (S. cerevisiae),73aa) | g.19:7696419C>T,c.199C>T,p.R67C |
| PES1(NM_001282328,pescadillo ribosomal biogenesis factor 1,449aa) | g.22:30977576G>A,c.269C>T,p.T90M |
| PES1(NM_001282328,pescadillo ribosomal biogenesis factor 1,449aa) | g.22:30977353T>A,c.373A>T,p.T125S |
| PES1(NM_001282328,pescadillo ribosomal biogenesis factor 1,449aa) | g.22:30977335C>T,c.391G>A,p.E131K |
| PES1(NM_001282328,pescadillo ribosomal biogenesis factor 1,449aa) | g.22:30977014C>G,c.480G>C,p.E160D |
| PES1(NM_001282328,pescadillo ribosomal biogenesis factor 1,449aa) | g.22:30976109T>A,c.683A>T,p.D228V |
| PES1(NM_001282328,pescadillo ribosomal biogenesis factor 1,449aa) | g.22:30976070C>T,c.722G>A,p.R241Q |
| PES1(NM_001282328,pescadillo ribosomal biogenesis factor 1,449aa) | g.22:30975864C>T,c.811G>A,p.V271M |
| PES1(NM_001282328,pescadillo ribosomal biogenesis factor 1,449aa) | g.22:30975861C>T,c.814G>A,p.A272T |