Table 4.
Summary of Mutations
| Family | Mutation Type | Size | Location* |
|---|---|---|---|
| BCMAD014 | Insertion/deletion | 149 bp deleted/640 bp inserted | Deletion of 59,310,880–59,311,028/insertion of 59,292,594–59,291,955 (reverse comp.) |
| UTAD069 | Deletion | 4.8 kb | 59,315,842–59,320,684 |
| UTAD082 | Deletion | 11.3 kb | 59,314,340–59,325,633 |
| UTAD119 | Deletion | 32–42 kb | 5′ breakpoint: 59,290,949–59,295,848 |
| 3′ breakpoint: 59,328,550–59,333,288 | |||
| UTAD034 | Deletion | >44.8 kb | 5′ breakpoint: <59,283,753 |
| 3′ breakpoint: 59,328,550–59,333,288 |
*
Position on chromosome based on the UCSC Human Genome Assembly of May 2004 (hg17).