Table 2.
Gene | Allelea | Frequencyb | ||||||||
---|---|---|---|---|---|---|---|---|---|---|
c.2088A>G | p.I696M | 0.03 | ||||||||
PEX1 | c.2331C>A | p.G777G | 0.84 | |||||||
c.3762T>C | p.A1254A | 0.01c | ||||||||
| ||||||||||
c.210G>A | p.G70G | 0.01c | ||||||||
c.235G>C | p.A79P | 0.02 | ||||||||
c.399G>T | p.V133V | 0.37 | ||||||||
c.813G>T | p.A271A | 0.01c | ||||||||
c.1802G>A | p.R601Q | 0.03 | ||||||||
PEX6 | c.2364G>A | p.V788V | 0.04 | |||||||
c.2426C>T | p.A809V | 0.03 | ||||||||
c.2644G>A | p.V882I | 0.03 | ||||||||
c.2770G>T | p.A924S | 0.01c | ||||||||
c.2814G>A | p.E938E | 0.43 | ||||||||
c.2816C>A | p.P939Q | 0.35 | ||||||||
| ||||||||||
PEX10 | c.820A>G | p.T274A | 0.03 | |||||||
| ||||||||||
PEX12 | c.733T>A | p.L245I | 0.01c | |||||||
c.867C>T | p.D289D | 0.01c | ||||||||
| ||||||||||
PEX26 | c.457C>G | p.L153V | 0.03 |
Newly discovered silent variants in red
Based on the analysis of 116 chromosomes
Allele found only once in cohort