Table 1.
Numbers of different mutations by mutation type present in HGMD Professional release 2017.1 and the publicly available version of the database (March 31st 2017)
| Mutation type | Numbers of mutations | ||
|---|---|---|---|
| HGMD Professional 2017.1 | Publicly available | ||
| Total (disease-associated/functional polymorphism sub-total) | With chromosomal coordinates and VCF data (GRCh38/hg38) | ||
| Missense substitutions | 92,331 (5132) | 91,671 | 62,759 |
| Nonsense substitutions | 22,372 (333) | 22,376 | 15,642 |
| Splicing substitutions (intronic and exonic) | 18,386 (632) | 18,083 | 13,087 |
| Regulatory substitutions (exonic, intronic, 5′- and 3′-untranslated regions) | 3801 (2499) | 3717 | 2764 |
| Micro-deletions ≤20 bp | 30,169 (292) | 29,540 | 21,744 |
| Micro-insertions/duplications ≤20 bp | 12,557 (175) | 12,227 | 8975 |
| Micro-indels ≤ 20 bp | 2866 (59) | 2770 | 2100 |
| Gross deletions >20 bp | 15,272 (147) | 0 | 10,337 |
| Gross insertions/duplications >20 bp | 3767 (84) | 0 | 2389 |
| Complex rearrangements (including inversions, translocations and complex indels) | 1857 (117) | 0 | 1417 |
| Repeat variations | 507 (306) | 0 | 421 |
| Totals | 203,885 (9776) | 180,386 | 141,635 |