Table 2.
Exon | Nucleotide change | Amino acid change | Affected individuals | Controls | P value | OR | 95% CI |
---|---|---|---|---|---|---|---|
2 | c.110G>A | p.R37Q | 0/348 (0%) | 3/432 (0.7%) | 0.26 | - | - |
7 | c.649G>C | p.G217R | 1/348 (0.3%) | 0/432 (0%) | 0.45 | - | - |
7 | c.703G>A | p.V235I | 1/348 (0.3%) | 1/432 (0.2%) | 1.0 | - | - |
7 | c.746C>T | p.P249L | 1/348 (0.3%) | 0/432 (0%) | 0.45 | - | - |
7 | c.760C>T | p.R254W | 8/348 (2.3%) | 2/432 (0.5%) | 0.03 | 5.1 | 1.1−24.0 |
7 | c.738_761del24 | p.K247_R254del | 2/348 (0.6%) | 1/432 (0.2%) | 0.58 | - | - |
P values were determined by Fisher's Exact Test.