Number of entries in HGMD by type
| Data type | Number of entries (public release for academic/non-profits only) | Number of entries HGMD Professional release 2023.4 |
|---|---|---|
| Mutation totals | 291329 | 510804 |
| Missense/nonsense | 169205 | 319190 (details) |
| Splicing | 25088 | 42559 (details) |
| Regulatory | 4749 | 6953 (details) |
| Small deletions | 41994 | 67065 (details) |
| Small insertions | 17867 | 29310 (details) |
| Small indels | 3834 | 5416 |
| Repeat variations | 573 | 702 |
| Gross insertions/duplications | 5224 | 7580 |
| Complex rearrangements | 2299 | 2950 |
| Gross deletions | 20496 | 29079 |
| Gene/sequence data | ||
| Genes | 11772 | 18959 |
| cDNA reference sequences | 11603 | 18754 |
Number of mutation entries by year of publication
| Year of publication | Number of entries (public release for academic/non-profits only) | Number of entries (HGMD Professional release 2023.4) |
|---|
Designed by P.D.Stenson HGMD®
Copyright © Cardiff University 2023
Copyright © Cardiff University 2023