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 |