Table 3.
Mutations extracted from PubMed/MEDLINE, PMC full texts, and PMC from PDFs including supplementary files such as Excel tables. Variants are grouped by variant type, counting each evidence for each variant resulting in the grand total. We also show the number of variants that we were able to map to a dbSNP ID, as well as the number of unique variants, disregarding occurrences across multiple publications
| Type | PubMed | PMC | PDF and | Total |
|---|---|---|---|---|
| Supplement | ||||
| Substitution | 617,693 | 853,487 | 5,804,542 | |
| dbSNP | 102,040 | 222,310 | 4,433,018 | |
| Insertion | 3,072 | 2,252 | 17,640 | |
| Duplication | 875 | 1,263 | 5,522 | |
| Repeat | 42 | 76 | 339 | |
| Deletion | 19,987 | 27,192 | 69,326 | |
| Insdel | 202 | 290 | 2,061 | |
| Frameshift | 2,185 | 3,065 | 28,405 | |
| Structural | 15,347 | 6,143 | 5,642,341 | |
| Total non-unique | 761,449 | 1,116,093 | 15,802,854 | |
| – with dbSNP ID | 261,881 | 381,500 | 4,743,471 | |
| Total unique | 203,055 | 201,597 | 4,221,952 | |
| Total unique mapped to allele a | 101,652 | 122,393 | 727,602 | 890,665 |
aIn case amino acid changes were given in the literature, we counted only one allele that would lead to that change