Table 1.
Numbers of different mutations by mutation type present in HGMD Professional 2013.2 and the publicly available version of the database (June 28th 2013)
| Mutation type | Total numbers of mutations | ||
|---|---|---|---|
| HGMD Professional | With chromosomal coordinates | Publicly available | |
| Missense substitutions | 62,368 | 61,845 | 44,933 |
| Nonsense substitutions | 15,781 | 15,574 | 11,306 |
| Splicing substitutions | 13,030 | 12,538 | 9,467 |
| Regulatory substitutions | 2,751 | 2,713 | 1,753 |
| Micro-deletions ≤ 20 bp | 21,681 | 21,134 | 15,796 |
| Micro-insertions ≤20 bp | 8,994 | 8,721 | 6,494 |
| Micro-indels ≤20 bp | 2,083 | 2,004 | 1,459 |
| Gross deletions >20 bp | 10,267 | 0 | 6,156 |
| Gross insertions/duplications >20 bp | 2,376 | 0 | 1,253 |
| Complex rearrangements | 1,409 | 0 | 946 |
| Repeat variations | 421 | 0 | 305 |
| Totals | 141,161 | 124,529 | 99,868 |