Targeted Next-Generation Resequencing of 𝐹5 Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency

Table 2

Mutations observed in coding sequences (CDS) of 𝐹5 gene in the investigated proband and her blood relatives.

Patient	Bleeding phenotype	FV activity (%)	Variants in CDS of 𝐹5 gene	Mature FV protein variants	SNPs (ID)
Female proband	Epistaxis multiple miscarriages	0–4%	Homozygote for nonsynonymous variants:
			169486641 G > C	2102 R/H (exon 23)	No dbSNP ID
			169519112 C > T	513 R/K (exon 10)	rs6020
			169541513 C > G	107 D/H (exon 3)	rs6019
			Homozygote for synonymous variants:
			169529973 C > T	135 A/A (exon 4)	rs6029
			169529826 C > A	184 S/S (exon 4)	rs6022
Newborn son of proband	No bleeding	36%	Heterozygote for nonsynonymous variants:
			169486641 G > C	2102 R/H (exon 23)	No dbSNP ID
			169519112 C > T	513 R/K (exon 10)	rs6020
			169541513 C > G	107 D/H (exon 3)	rs6019
			Heterozygote for synonymous variants:
			169529973 C > T	135 A/A (exon 4)	rs6029
			169529826 C > A	184 S/S (exon 4)	rs6022
Mother of proband	No bleeding	Reported normal	Heterozygote for nonsynonymous variants:
			169486641 G > C	2102 R/H (exon 23)	No dbSNP ID
			169519112 C > T	513 R/K (exon 10)	rs6020
			169541513 C > G	107 D/H (exon 3)	rs6019
			Heterozygote for synonymous variants:
			169529973 C > T	135 A/A (exon 4)	rs6029
			169529826 C > A	184 S/S (exon 4)	rs6022
Father of proband	No bleeding	Reported normal	Heterozygote for nonsynonymous variants:
			169486641 G > C	2102 R/H (exon 23)	No dbSNP ID
			169519112 C > T	513 R/K (exon 10)	rs6020
			169541513 C > G	107 D/H (exon 3)	rs6019
			Heterozygote for synonymous variants:
			169529973 C > T	135 A/A (exon 4)	rs6029
			169529826 C > A	184 S/S (exon 4)	rs6022
Proband’s husband	No bleeding	Reported normal	No above CDS variants detected in 𝐹5	—	—