variant | region | Study group1 | minor allele frequency n (%) | p-value2 | ||
---|---|---|---|---|---|---|
 |  |  |  | cases | controls |  |
g.-9447 A > G | Â | exon 01 | 2 | 29 (8.06) | 33 (8.82) | 0.79 |
c.-584C > G | Â | promoter | 1 | 0 (0) | 1 (0.53) | nd. |
c.-140C > T | Â | 5'UTR/exon 1 | 3 | 2 (0.28) | 9 (1.01) | 0.13 |
c.-30C > T | Â | 5'UTR/exon 1 | 1 | 0 (0) | 2 (1.06) | nd. |
c.475T > C | p.Val82Ala | exon 2 | 1 | 1 (0.54) | 0 (0) | nd. |
g.IVS1+212T > C | rs1017713 | exon 2 | 2 | 25 (7.65) | 26 (7.06) | 0.77 |
g.IVS2-3C > G | Â | intron 2 | 1 | 0 (0) | 1 (0.53) | nd. |
c.812A > G | p.Thr194Thr | exon 5 | 1 | 1 (0.54) | 0 (0) | nd. |
c.920T > C | p.Ser230Ser | exon 6 | 1 | 1 (0.54) | 0 (0) | nd. |
c.1020G > A | p.Arg297Gln | exon 7 | 1 | 0 (0) | 2 (1.06) | nd. |
c.1492G > A | p.Gly318Ser | exon 7 | 1 | 0 (0) | 2 (1.06) | nd. |
g.IVS7+23C > T | Â | intron 7 | 1 | 1 (0.54) | 0 (0) | nd. |
g.IVS7+73C > T | Â | intron 7 | 1 | 2 (1.08) | 0 (0) | nd. |
g.IVS7+164(TAG)2–3 | rs3841596 | intron 7 | 2 | 24 (6.67) | 28 (7.61) | 0.67 |
c.1383C > G | p.Leu385Val | exon 8 | 1 | 0 (0) | 1 (0.53) | nd. |
g.*19T > C | rs3060 | 3'UTR/exon 8 | 2 | 27 (7.50) | 27 (7.76) | 1 |
g.*22C > T | Â | 3'UTR/exon 8 | 1 | 1 (0.54) | 0 (0) | nd. |