Figure 1.
Domain cartoon of the 6211 unique variants of FVIII. The FVIII protein comprises the A1-a1-A2-a2-B-a3-A3-C1-C2 domains and linkers and is shown as dark gray boxes that are not drawn to scale. N and C represent the N terminus and C terminus, respectively. Residue numbering marks the first and last amino acids that frame each domain, reported in HGVS format. Above each protein domain, the number of variant residues is shown in the upper row, and the number of variants in each domain is shown in the lower row. Intronic variants are included in their respective domains according to their sequence numbering. Variants that occur in splice sites (420), multiple domains (202), or are not reported (47) are not shown. Below the protein domains, the gene arrangement of 26 exons is shown as alternating light gray and maroon boxes drawn to scale. The exons coding for each FVIII protein domain are indicated. UTR, untranslated region.

Domain cartoon of the 6211 unique variants of FVIII. The FVIII protein comprises the A1-a1-A2-a2-B-a3-A3-C1-C2 domains and linkers and is shown as dark gray boxes that are not drawn to scale. N and C represent the N terminus and C terminus, respectively. Residue numbering marks the first and last amino acids that frame each domain, reported in HGVS format. Above each protein domain, the number of variant residues is shown in the upper row, and the number of variants in each domain is shown in the lower row. Intronic variants are included in their respective domains according to their sequence numbering. Variants that occur in splice sites (420), multiple domains (202), or are not reported (47) are not shown. Below the protein domains, the gene arrangement of 26 exons is shown as alternating light gray and maroon boxes drawn to scale. The exons coding for each FVIII protein domain are indicated. UTR, untranslated region.

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