Table 1 Molecular and clinical data of studied patients
Patient reference | Gender/age | FVII C (%) | PT (%) | Genotype | Gene region | Nucleotide | Variant numbering (literature based) | Variant numbering (HGVS nomenclature) | Known common variant | Clinical features |
|---|---|---|---|---|---|---|---|---|---|---|
#1 | Female/31 | 20 | 45 | Heterozygous | Intron 5 | c.430+1G>A | IVS4+1G>A | c.430+1G>A | A1A2; 353RQ | Asymptomatic |
#2 | Male/10 | 41.4 | 49 | Heterozygous | Exon 9 | c.1199G>C | — | p.Cys400Ser | A1A1; 353RR | Epistaxis; Rectal bleeding |
#3 | Male/38 | 5.1 | 15 | Homozygous | Exon 7 | c.641T>G | Val154Gly | p.Val214Gly | A1A1; 353RR | Epistaxis |
#4 | Female/27 | 39 | 55 | Heterozygous | Promoter | c.-54G>Aa | — | c.-54G>A | A2A2; 353QQ | Menorrhagia |
#5 | Male/77 | 5.5 | 11 | Compound heterozygous | Intron 8; Exon 9 | c.805+1G>A; c.1171G>A | IVS7+1G>A; Gly331Ser | c.805+1G>A; p.Gly391Ser | A1A1; 353RR | Post-traumatic hematoma and pulmonary embolism |
#6 | Female/9 | 36.7 | 60 | Heterozygous | Promoter | c.-30A>C | −30A>C | c.-30A>C | A1A2; 353RQ | Perinatal intracranial bleeding |
#7 | Male/3 | 1.5 | 9 | Compound heterozygous | Exon 9; Exon 9 | c.911C>T c.1171G>A | Ala244Val; Gly331Ser | p.Ala304Val; p.Gly391Ser | A1A2; 353RQ | Post-traumatic ecchymoses |
#8 | Male/38 | 16.5 | 44 | Heterozygous | Exon 9 | c.1171G>A | Gly331Ser | p.Gly391Ser | A1A2; 353RQ | Asymptomatic |
#9 | Male/80 | 31 | 66 | Heterozygous | Exon 9 | c.1009C>T | Arg277Cys | p.Arg337Cys | A1A2; 353RQ | Asymptomatic |
#10 | Male/37 | 51 | 53 | Heterozygous | Exon 6 | c.509G>Aa | — | p.Arg170His | A2A2; 353QQ | Asymptomatic |
