Hemophilia B
With regard to hemophilia B, in total 19 variants were found (Table 8):
13 in severe hemophilia B, three in moderate hemophilia B and one in
mild hemophilia B patients. Similarly to hemophilia A, duplications
causing frameshift (n=3), insertions (n=1), SNVs with nonsense effect
(n=3), duplications causing small insertions/duplications
(<50bp, in-frame; n=1) and frameshift and deletions causing
frameshift (n=4), all caused severe and one moderate phenotype of
hemophilia B and were regarded to cause hemophilia B without further
investigations (Table 9). Five out of the eight variants with missense
effect could be classified as disease-causing by in silicoanalysis (Tables 10 and 11), resulting in a total of 17 new variants
found to cause hemophilia B. In one new variant an inhibitor was
reported.