Exonic/intronic variants | Accession number | Nucleotide changea | Amino acid change | Frequency of variant in LOPD families (%) | |
---|---|---|---|---|---|
1 | Intron 2 | rs73187631 | IVS2-182 a > t | 7.41 | |
2 | Intron 3 | novel | IVS3 -44 a > g | 1.85 | |
3 | Intron 4 | novel | IVS4 + 115 g > a | 3.70 | |
4 | Exon 7 | rs13319149 | c.481A > G | T161A | 100 |
5 | Intron 9 | rs9846954 | IVS9 + 93 a > t | 25.93 | |
6 | Intron 9 | novel | IVS9 + 75 indelb | 7.41 | |
7 | Intron 9 | rs4912537 | IVS9-100 c > t | 14.81 | |
8 | Exon 10 | rs2178403 | c.1294A > G | M432V | 55.56 |
9 | Intron 15 | 1KG 3 184041398 | IVS15 + 17 c > t | 1.85 | |
10 | Intron 18 | 1KG 3 184043002 | IVS18 + 100 g > t | 1.85 | |
11 | Exon 27 | rs2230571 | c.4005C > T | H1335H | 18.52 |