Positions of six TSC2 deletions
| Patient | Deletion | Features |
| 1 | 4.5 kb deletion intron 2-intron 5 | Alu mediated |
| 2 | 39 kb deletion intron 1-intron 40 | 11 bp insertion at junction |
| 3 | 34 kb deletion intron 1-exon 33 | 3 bp overlap at junction |
| 4 | 1.4 kb deletion exon 37-exon 39 | 6 bp insertion at junction |
| 5 | 1.3 kb deletion intron 19-intron 20 | 3 bp overlap at junction |
| 6 | 10.1 kb deletion intron 9-intron 15 | Alu mediated |