| 基因名 | 突变 |
|---|---|
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8161149C>T,c.1100C>T,p.P367L |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8161131A>G,c.1082A>G,p.N361S |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8160194C>T,c.988C>T,p.R330W |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8159874G>A,c.854G>A,p.R285Q |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8159189C>T,c.641C>T,p.P214L |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8159165G>A,c.617G>A,p.R206H |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8158983C>T,c.548C>T,p.A183V |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8158882G>A,c.447G>A,p.M149I |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8158823G>T,c.388G>T,p.A130S |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8158449C>T,c.383C>T,p.S128L |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8158418C>T,c.352C>T,p.R118C |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8157592A>G,c.251A>G,p.N84S |
| PFAS(NM_012393,phosphoribosylformylglycinamidine synthase,1338aa) | g.17:8157310C>T,c.55C>T,p.P19S |
| PF4(NM_002619,platelet factor 4,101aa) | g.4:74847598C>T,c.73G>A,p.V25M |
| PEX7(NM_000288,peroxisomal biogenesis factor 7,323aa) | g.6:137191089G>A,c.695G>A,p.R232Q |
| PEX7(NM_000288,peroxisomal biogenesis factor 7,323aa) | g.6:137166790A>C,c.377A>C,p.Q126P |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42946654C>G,c.235G>C,p.A79P |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42946482G>T,c.407C>A,p.P136Q |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42946348C>T,c.541G>A,p.V181M |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42946272C>T,c.617G>A,p.G206E |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42946036G>C,c.853C>G,p.P285A |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42946033del,c.856del,p.286fs |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42942755C>T,c.904G>A,p.A302T |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42942689C>T,c.970G>A,p.E324K |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42942646T>C,c.1013A>G,p.D338G |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42936704T>C,c.1387A>G,p.T463A |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42936070G>A,c.1646C>T,p.A549V |
| PEX6(NM_000287,peroxisomal biogenesis factor 6,980aa) | g.6:42935272G>A,c.1718C>T,p.T573I |