Structure of the thrombomodulin gene (THBD) and identification of 2 missense variants in the patient and her parents. The c.793T>A substitution causes the p.Cys265Ser missense substitution in EGF-like domain 1, and c.1418C>T causes p.Ala473Val in EGF-like domain 6. The patient’s parents were both heterozygous for the c.793T>A variant, whereas her brother did not carry it. Nt, N terminus; STR, Ser/Thr-rich domain; tm, transmembrane domain; Ct, C terminus; F, father; M, mother; B, brother; P, proband. *Novel variation. ^#Common polymorphism.