Table 3 of
White, Mol Vis 2008; 14:2458-2465. Table 3 of
White, Mol Vis 2008; 14:2458-2465.
Table 3. Sequence variants in SKI determined by direct sequencing.
| Patient ID | Exon 1 | Exon 1 | Exon 4 | Exon 4 | Exon 5 | Exon 6 |
|---|---|---|---|---|---|---|
| rs28384811 | Novel | Novel | Novel | Novel | Novel | |
| Coding non-synonymous | Coding synonymous | Coding synonymous | Coding synonymous | Coding synonymous | Coding synonymous | |
| 1 | ||||||
| 2 | ||||||
| 3 | ||||||
| 4 | ||||||
| 5 | c.[1527C>T] +[=], p.A509A | |||||
| 6 | ||||||
| 7 | ||||||
| 8 | ||||||
| 9 | *c.[185C>G] +[=], p.[62A>G]+[=] | c.[98C>G] +[=], p.G33G | ||||
| 10 | *c.[185C>G] +[185C>G], p.[62A>G] +[62A>G] | |||||
| 11 | *c.[185C>G] +[185C>G], p.[62A>G] +[62A>G] | c.[98C>G] +[98C>G], p.G33G | ||||
| 12 | ||||||
| 13 | ||||||
| 14 | c.[1440G>A] +[=], p.S480S | |||||
| 15 | c.[1446G>A] +[=], p.A482A | |||||
| 16 | ||||||
| 17 | ||||||
| 18 | ||||||
| Control 1 | c.[1974C>T] +[=], p.R658R | |||||
| Control 2 | ||||||
| Control 3 | ||||||
| Control 4 |