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This database is maintained by D.N. Cooper, E.V. Ball, P.D. Stenson, A.D. Phillips, K. Howells and M.E Mort with the assistance of N.S.T. Thomas.
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Table: Description: Public entries:
^*Academic/non-profits only Total entries:
^*HGMD Professional 7.3
Mutation totals (as of 2007-10-27) 53175 73411
Gene symbol The gene description, gene symbol (as recommended by the HUGO Nomenclature Committee) and chromosomal location is recorded for each gene. In cases where a gene symbol has not yet been made official, a provisional symbol has been adopted which is denoted by lower-case letters. 2056 2768
cDNA sequence cDNA sequences are presented numbered by codon. 2008 2681

Missense/nonsense Single base-pair substitutions in coding regions are presented in terms of a triplet change with an additional flanking base included if the mutated base lies in either the first or third position in the triplet. 30551 41628
Splicing Mutations with consequences for mRNA splicing are presented in brief with information specifying the relative position of the lesion with respect to a numbered intron donor or acceptor splice site. Positions given as positive integers refer to a 3' (downstream) location, negative integers refer to a 5' (upstream) location. 5041 7131
Regulatory Substitutions causing regulatory abnormalities are logged in with thirty nucleotides flanking the site of the mutation on both sides. The location of the mutation relative to the transcriptional initiation site, initiaton codon, polyadenylation site or termination codon is given. 670 1082
Small deletions Micro-deletions (20 bp or less) are presented in terms of the deleted bases in lower case plus, in upper case, 10 bp DNA sequence flanking both sides of the lesion. The numbered codon is preceded in the given sequence by the caret character (^). 8731 11935
Small insertions Micro-insertions (20 bp or less) are presented in terms of the inserted bases in lower case plus, in upper case, 10 bp DNA sequence flanking both sides of the lesion. The numbered codon is preceded in the given sequence by the caret character (^). 3476 4811
Small indels Micro-indels (20 bp or less) are presented in terms of the deleted/inserted bases in lower case plus, in upper case, 10 bp DNA sequence flanking both sides of the lesion. The numbered codon is preceded in the given sequence by the caret character (^). 769 1076
Gross deletions Information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported. 2962 4219
Gross insertions Information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported. 459 783
Complex rearrangements Information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported. 376 565
Repeat variations Information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported. 140 181

916278 hits on this page since June 2005.

Table:	Description:	Public entries: ^*Academic/non-profits only	Total entries: ^*HGMD Professional 7.3
Mutation totals (as of 2007-10-27)		53175	73411
Gene symbol	The gene description, gene symbol (as recommended by the HUGO Nomenclature Committee) and chromosomal location is recorded for each gene. In cases where a gene symbol has not yet been made official, a provisional symbol has been adopted which is denoted by lower-case letters.	2056	2768
cDNA sequence	cDNA sequences are presented numbered by codon.	2008	2681

Missense/nonsense	Single base-pair substitutions in coding regions are presented in terms of a triplet change with an additional flanking base included if the mutated base lies in either the first or third position in the triplet.	30551	41628
Splicing	Mutations with consequences for mRNA splicing are presented in brief with information specifying the relative position of the lesion with respect to a numbered intron donor or acceptor splice site. Positions given as positive integers refer to a 3' (downstream) location, negative integers refer to a 5' (upstream) location.	5041	7131
Regulatory	Substitutions causing regulatory abnormalities are logged in with thirty nucleotides flanking the site of the mutation on both sides. The location of the mutation relative to the transcriptional initiation site, initiaton codon, polyadenylation site or termination codon is given.	670	1082
Small deletions	Micro-deletions (20 bp or less) are presented in terms of the deleted bases in lower case plus, in upper case, 10 bp DNA sequence flanking both sides of the lesion. The numbered codon is preceded in the given sequence by the caret character (^).	8731	11935
Small insertions	Micro-insertions (20 bp or less) are presented in terms of the inserted bases in lower case plus, in upper case, 10 bp DNA sequence flanking both sides of the lesion. The numbered codon is preceded in the given sequence by the caret character (^).	3476	4811
Small indels	Micro-indels (20 bp or less) are presented in terms of the deleted/inserted bases in lower case plus, in upper case, 10 bp DNA sequence flanking both sides of the lesion. The numbered codon is preceded in the given sequence by the caret character (^).	769	1076
Gross deletions	Information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported.	2962	4219
Gross insertions	Information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported.	459	783
Complex rearrangements	Information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported.	376	565
Repeat variations	Information regarding the nature and location of each lesion is logged in narrative form because of the extremely variable quality of the original data reported.	140	181