Table 3 of Tanwar, Mol Vis 2010; 16:1996-2006.
Patient ID | ||||||||
---|---|---|---|---|---|---|---|---|
Serial number |
Location |
Sequence change |
Codon change |
Mutation |
PCG (n=75) |
Controls (n=75) |
p-value |
Odds
Ratio (at 95% CI) |
1 | Promoter | −126T>C | - | - | 2 | 0 | 0.496 | - |
2 | Promoter | −83G>A | - | - | 9 | 2 | 0.055 | 4.97 (1.03–23.87) |
3 | Exon 1 | c.227 G>A | AGA>AAA | p.R76K | 30 | 12 | 0.001 | 3.50 (1.61–7.56) |
4 | Intron 2 | IVS2+35 G>A | - | - | 60 | 25 | <0.001 | 8.00 (3.80–16.80) |
5 | Exon 3 | c.1041T>C | TAT>TAC | p.Y347Y | 5 | 0 | 0.058 | - |