Table 3 of Corso-Díaz, Mol Vis 2012; 18:2770-2782.
Nucleotide changea | Amino-acid change | Locationb | Proband allele freq. | UFM | Control allele freq. | Total allele freq. | Previously reported | Flanking sequence |
---|---|---|---|---|---|---|---|---|
g.-2945A>G | N/A | CE11A (Upstream) | 2/160 | 1 | 0/324 | 2/484 (0.41)c | [47] | TCAGAACTGTATTGTGATTTA |
g.-1507G>A | N/A | CE12A (Upstream) | 1/160 | 1 | 0/370 | 1/530 (0.19)c | This study | AATGGGGAGGGGGTAGGGGAT |
g.-1492G>A | N/A | CE12A (Upstream) | 8/160 | 1 | 0/370 | 8/530 (1.51) | [47] | GGGGATGAGGGCCTCTCTTCA |
g.-1453C>G | N/A | CE12A (Upstream) | 1/160 | 0 | 1/370 | 2/530 (0.38)c | [47] | AGCGGGAGCCCGCAACGCCCG |
g.-555C>T | N/A | 5′UTR | 1/160 | 0 | 2/370 | 3/530 (0.57)c | [47] | ATCTAGTTTTCCCACTCTGCG |
g.-364C>A | N/A | 5′UTR | 1/160 | 0 | ND | 1/160 (0.63)c | dbSNP | CGTAGGAAGGCCATTTTCGTG |
g.-200G>C | N/A | 5′UTR | 8/160 | 1 | ND | 8/160 (5.00) | [47] | AGAAACTTAAGGATGCTTAAA |
g.-93A>G | N/A | 5′UTR | 117/160 | 15 | ND | 117/160 (73.13) | [47] | GCTGGAGGGCAGCTGGAGAGC |
g.-34C>T | N/A | 5′UTR | 7/160 | 1 | ND | 7/160 (4.38) | [47] | ACTCGGGCAGCGCCCACCAAC |
g.2040G>A | N/A | CE17B (Intron 1) | 74/160 | 11 | ND | 74/160 (46.25) | dbSNP | CGCCTTGCCCGGCTTCTCGCG |
g.3026C>G | N/A | CE19B (Intron 1) | 1/160 | 1 | ND | 1/160 (0.63)c | [47] | GAGGGGGGCGCCGAGCCGGTG |
g.3154C>T | N/A | CE19B (Intron 1) | 12/160 | 0 | 44/370 | 56/530 (10.57) | dbSNP | GTTGTAATTACCCGGCCGAGC |
g. 4601–4602delTC | N/A | Intron 1 | 15/160 | 1 | ND | 15/160 (9.38) | [47] | TTGCTTAGCATCTCTCTCTCC |
g.10049–10050delTG | N/A | Intron 4 | 80/160 | 12 | ND | 80/160 (50.00) | dbSNP | CTGAGCTGTGTGATTGGGGTC |
g.14121C>G | p.Arg274Gly | Exon 7 | 1/160 | 0 | 0/746 | 1/906 (0.11)c | This study | GGTGGTGGCTCGATTTAGACA |
g.14258C>T | N/A | Intron 7 | 1/160 | 0 | 0/746 | 1/906 (0.11)c | This study | TCAGCCACCTCGAAGTCTGAA |
g.14672C>A | N/A | Intron 7 | 8/160 | 0 | ND | 8/160 (5.00) | dbSNP | AAGTGATCCGCCTGCCTCGGC |