Figure 2.
Distribution of the 6211 unique variants found in the F8 gene. Breakdowns of the 6211 FVIII variants into variant type, effect, and location within the F8 gene sequence are shown. “Not reported” refers to variants found within literature or databases that did not contain any information about the severity of the inherited mutation. (A) The relative frequency of different types of unique variants in the F8 gene. (B) Effects of the 4243-point variants found in the F8 gene sequence. (C) Distribution of the 6211 FVIII variants across the F8 gene and FVIII protein domains.