Table 2 of Vincent, Mol Vis 2009; 15:2544-2553. Table 2 of Vincent, Mol Vis 2009; 15:2544-2553.
Table 2. SNPs and mutation table.
Patient ID |
Pathogenic variant | Non-pathogenic sequence variants | |
|---|---|---|---|
| Exon 1 | Exon 3 | Exon 6 | |
| 1 | c.260-538C>T, het | c.685-15G>A, hom | |
| 2 | c.260-154A>G, het | c.685-15G>A, het | |
| 3 | c.685-15G>A, hom | ||
| 4 | c.260-154A>G, het | c.685-15G>A, hom | |
| 5 | c.685-15G>A, het | ||
| 6 | c.1A>G het, p.Met1Val | c.685-15G>A, hom | |
| 6a | c.1A>G het, p.Met1Val | c.685-15G>A, hom | |
| 7 | c.685-15G>A, het | ||
| 8 | c.685-15G>A, hom | ||
| 9 | c.685-15G>A, het | ||
| 10 | c.685-15G>A, hom | ||
| 11 | c.260-154A>G, het | c.685-15G>A, hom | |