![]() | The Human Gene Mutation Database at the Institute of Medical Genetics in Cardiff Copyright © Cardiff University 2011. All rights reserved | ![]() |
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HGMD Professional includes 1. Up-to-date mutation data; 2. Fulltext indexing;
3. Advanced search facility; 4. Downloadable results; 5. And much more....! See the many benefits of HGMD Professional,
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| Data type | Number of entries (public release for academic/non-profits only) | Number of entries (HGMD Professional release 2011.4) |
| Mutation data | TOTAL (public release) 85840 | TOTAL (HGMD Professional 2011.4) 120004 |
| Missense/nonsense | 48633 | 66902 (details) |
| Splicing | 8131 | 11220 (details) |
| Regulatory | 1395 | 2245 (details) |
| Small deletions | 13680 | 18799 (details) |
| Small insertions | 5599 | 7719 (details) |
| Small indels | 1243 | 1783 |
| Repeat variations | 260 | 377 |
| Gross insertions/duplications | 1001 | 1757 |
| Complex rearrangements | 737 | 1170 |
| Gross deletions | 5161 | 8032 |
| Gene/sequence data | ||
| Genes | 3253 | 4411 |
| cDNA reference sequences | 3195 | 4320 |
| Year of publication | Number of entries (public release for academic/non-profits only) | Number of entries (HGMD Professional release 2011.4) |
| 2012 | 0 | 4 |
| 2011 | 75 | 9342 |
| 2010 | 204 | 10121 |
| 2009 | 320 | 11249 |
| 2008 | 6468 | 8415 |
| 2007 | 8141 | 8630 |
| 2006 | 8323 | 8686 |
| 2005 | 7841 | 8265 |
| 2004 | 5916 | 6056 |
| 2003 | 5985 | 6120 |
| 2002 | 5471 | 5562 |
| 2001 | 5844 | 5908 |
| 2000 | 5478 | 5551 |
| 1999 | 5232 | 5274 |
| 1998 | 4635 | 4672 |
| 1997 | 3771 | 3806 |
| 1996 | 3003 | 3039 |
| 1995 | 2392 | 2430 |
| 1994 | 2277 | 2289 |
| 1993 | 1388 | 1400 |
| 1992 | 1170 | 1183 |
| 1991 | 737 | 747 |
| 1990 | 448 | 455 |
| 1989 | 298 | 310 |
| 1988 | 150 | 160 |
| 1987 | 83 | 88 |
| 1986 | 53 | 59 |
| 1985 | 37 | 45 |
| 1984 | 30 | 35 |
| 1983 | 23 | 38 |
| 1982 | 15 | 17 |
| 1981 | 14 | 23 |
| 1980 | 13 | 18 |
| 1979 | 5 | 5 |
| 1978 | 0 | 2 |
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