| Deletions | Duplications | Inversions | Insertions | Translocations | Total |
---|
Multiple genes | 7 | 2 | 4 | N/A | 5 | 18 |
Multiple exons | 37 | 19 | 5 | N/A | N/A | 61 |
Single exon | 81 | 16 | 2 | 3 | N/A | 102 |
Promoter | 5 | 0 | 0 | 0 | 0 | 5 |
Intronic | 2 | 0 | 0 | 0 | N/A | 2 |
Total | 132 | 37 | 11 | 3 | 5 | 188 |
- We curated a collection of 188 published deleterious SVs based on 182 cases published in 146 clinical case reports. We considered five classes of SVs commonly present in LRS variant calling results: deletions, duplications, inversions, insertions, and translocations. We further classified the SVs into five functional categories based on the number of affected genes and the relative location of the SV region with respect to transcripts of genes. The case reports are available for download