| Table: | Description: |
Entries: |
| 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. | 26 |
| 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. | 16 |
| 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. | 7 |
| 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 (^). | 4 |
| 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 (^). | 0 |
| 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 (^). | 0 |
| 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. | 9 |
| 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. | 0 |
| 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. | 2 |
| 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. | 0 |
| Mutation total for HGMD Professional (specimen) | 64 |
