Classification of reports on genotypes
In similarity with the established databases of CHAMPS, CHBMPS and
EAHAD, we used the following classifications:
The type of mutation in F8 was classified as inversion 22,
inversion 1, point mutation, deletion, duplication, insertion,
polymorphism or complex mutation.
The type of mutation in F9 was classified as point mutation,
deletion, duplication, insertion, polymorphism or complex mutation.
The effect of mutation was reported in both F8 and F9 as
missense, nonsense, frameshift, large deletion/insertion/duplication
(>50 base pairs), small deletion/insertion/duplication
(<50 base pairs) in frame, silent mutation, splice site
mutation and promotor mutation.