Allele frequency regarding 288 mutant PEX1genes from 168 patients
| cDNA level, protein level | Exon | Number of alleles | Allele frequency |
|---|---|---|---|
| Splice site mutations | 9 | 0.0313 | |
| c.1670+5G→T | 9 | 2 | 0.0069 |
| c.2071+1G→T | Intron 12, splice donor | 2 | 0.0069 |
| c.2926+1G→A | Intron 18, splice donor | 3 | 0.0104 |
| c.2926+2T→C | Intron 18, splice donor | 1 | 0.0035 |
| c.3207+1G→C | Intron 20, splice donor | 1 | 0.0035 |
| Insertions and deletions | 134 | 0.4653 | |
| c.434_448delTTGGGTTGATCAACAinsGCAA, V145GfsX24 | 4 | 1 | 0.0035 |
| c.788_789delCA, T263IfsX6 | 5 | 1 | 0.0035 |
| c.904delG, A302QfsX23 | 5 | 1 | 0.0035 |
| c.911_912delCT, S304CfsX4 | 5 | 1 | 0.0035 |
| c.1865_1866insGAGTGTGGA, H623insSVC | 11 | 2 | 0.0069 |
| c.1900_2070del171bp, G634_H690del57 | 12 | 1 | 0.0035 |
| c.2083_2085delATG, M695del | 13 | 2 | 0.0069 |
| c.2085_2089delGATAA, M695IfsX45 | 13 | 1 | 0.0035 |
| c.2097_2098insT, I700YfsX42 | 13 | 102 | 0.3542 |
| c.2227_2416del190bp, ? | 14 | 3 | 0.0104 |
| c.2537_2545delATGAAGTTAinsTCATGGT, H846LfsX52 | 15 | 1 | 0.0035 |
| c.2730delA, L910FfsX51 | 17 | 4 | 0.0139 |
| c.2814_2818delCTTTG, F938LfsX2 | 18 | 1 | 0.0035 |
| c.2916delA, G973AfsX16 | 18 | 10 | 0.0347 |
| c.3180_3181insT, G1061WfsX16 | 20 | 1 | 0.0035 |
| c.3691_3694delCAGT, Q1231HfsX3 | 23 | 2 | 0.0069 |
| Nonsense mutations | 10 | 0.0347 | |
| c.781C→T, Q261X | 5 | 1 | 0.0035 |
| c.1897C→T, R633X | 11 | 1 | 0.0035 |
| c.2368C→T, R790X | 14 | 1 | 0.0035 |
| c.2383C→T, R795X | 14 | 1 | 0.0035 |
| c.2614C→T, R872X | 16 | 3 | 0.0104 |
| c.2992C→T, R998X | 19 | 1 | 0.0035 |
| c.3287C→G, S1096X | 21 | 1 | 0.0035 |
| c.3378C→G, Y1126X | 21 | 1 | 0.0035 |
| Missense mutations | 134 | 0.4653 | |
| c.274G→C, V92L | 3 | 2 | 0.0069 |
| c.1777G→A, G593R | 10 | 1 | 0.0035 |
| c.1991T→C, L664P | 12 | 1 | 0.0035 |
| c.2008C→A, L670M | 12 | 1 | 0.0035 |
| c.2387T→C, L796P | 14 | 1 | 0.0035 |
| c.2392C→G, R798G | 14 | 1 | 0.0035 |
| c.2528G→A, G843D | 15 | 124 | 0.4306 |
| c.2846G→A, R949Q | 18 | 1 | 0.0035 |
| c.3038G→A, R1013H | 20 | 1 | 0.0035 |
| c.3850T→C, X1284Q | 24 | 1 | 0.0035 |
| Duplications | 1 | 0.0035 | |
| c.1951_1959dupCAGTGTGGA, W653_M654insTVW | 12 | 1 | 0.0035 |