Table 3.
Mutational spectra of congenital fibrinogen disorders in the FGA, FGB, and FGG genes.
| Number of Mutations | |||
|---|---|---|---|
| Mutation Type | FGA | FGB | FGG |
| Missense | 54 | 55 | 100 |
| Nonsense | 25 | 12 | 4 |
| Splicing | 11 | 7 | 9 |
| Regulatory | 3 | 3 | 1 |
| Small deletions | 28 | 8 | 15 |
| Small insertions | 11 | 2 | 0 |
| Small indels | 4 | 1 | 1 |
| Gross deletions | 5 | 1 | 1 |
| Gross insertions/duplications | 1 | 0 | 0 |
| Complex rearrangements | 0 | 1 | 0 |
| Total (public HGMD repository) | 142 | 90 | 131 |
| (169) | (107) | (153) | |
Data were retrieved from the Human Gene Mutation Database (HGMD) (http://www.hgmd.cf.ac.uk/, accessed on 20 July 2021). In parentheses, the number of mutations available through the restricted access to the database.