Table 1.
Summary of mutation data present in HGMD (as of 1 December 2008)
| Number of entries | ||
|---|---|---|
| Mutation type | HGMD public version | HGMD professional (subscription version) |
| Single base-pair substitutions | ||
| Missense or nonsense | 35,545 | 48,343 |
| Splicing | 5,803 | 8,219 |
| Regulatory | 817 | 1,400 |
| Other lesions | ||
| Small (≤ 20 bp) deletions | 10,035 | 13,628 |
| Small (≤ 20 bp) insertions | 4,014 | 5,567 |
| Small (≤ 20 bp) indels | 909 | 1,244 |
| Large (>20 bp) deletions | 3,536 | 5,158 |
| Large (>20 bp) insertions and duplications | 559 | 1,003 |
| Complex rearrangements (including inversions) | 453 | 736 |
| Repeat variations | 151 | 260 |
| Total | 61,822 | 85,558 |