Table 1: *Patients with de novo mutations (sporadic HA); §Patients FB19 and FB20 are brothers, M2-M3 and C1-C2 are relatives; °Patient P1 suffers from moderate haemophilia A (FVIII:C 2%) with presence of inhibitors. Mutations in bold are new mutations not described in HGMD, HAMSTeRS and CHAMP database; for those underlined have already been reported other mutations at the same site.

Patient ID Clinical phenotype Region Nucleotide change Codon change (HGVSnomenclature) Domain Mutation type
FB1 severe exon 7 c.943G>C p.A315P A1 missense
FB2 severe exon 3 c.277_281insCAGGT p.Pro93GlnfsX70 A1 small insertion
FB3 mild exon 11 c.1700T>C p.I567T A2 missense
FB4 mild exon 11 c.1700T >C p.I567T A2 missense
FB5 mild exon 3 c.341C>A p.P114H A1 missense
FB6 severe exon 11 c.1631A>G p.D544G A2 missense
FB7 severe intron 22 IVS22 / / inversion
FB8 severe intron 22 IVS22 / / inversion
FB9 severe intron 22 IVS22 / / inversion
FB10* severe exon 4 c.530A>C p.Y177S A1 missense
FB11 severe exon 16 c.5392G>A p.A1798T A3 missense
FB12 mild exon 11 c.1700T>C p.I567T A2 missense
FB13 moderate exon 16 c.5398C>T p.R1800C A3 missense
FB14 severe exon 14 c.3637dupA p.I1213NfsX28 B small duplication
FB15* severe exon 14 c.4128C>G p.Y1376X B nonsense
FB16 severe intron 22 IVS22 / / inversion
FB17 severe intron 22 IVS22 / / inversion
FB18 severe exon 18 c.5830_5840delATAATGGATAC p.Ile1944ThrfsX23 A3 small deletion
FB19§ severe exons 1-22 deletion ex1-22 / / large deletion
FB20§ severe exons 1-22 deletion ex1-22 / / large deletion
M1 mild exon 11 c.1636C>T p.R546W A2 missense
M2§ mild exon 9 c.1372C>T p.R458C A2 missense
M3§ mild exon 9 c.1372C>T p.R458C A2 missense
M4 mild exon 14 c.3465dupA p.Ser1156IlefsX10 B small duplication
M5 mild exon 11 c.1636C>T p.R546W A2 missense
M6 mild exon 11 c.1700T>C p.I567T A2 missense
M7 mild exon 23 c.6506G>A p.R2169H C1 missense
Patient ID Clinical phenotype Region Nucleotide change Codon change (HGVSnomenclature) Patient # Mutation type
M9 moderate exon 24 c.6638C>G p.S2213C C2 missense
M10 mild exon 11 c.1636C>T p.R546W A2 missense
M11 mild exon 11 c.1636C>T p.R546W A2 missense
M12 mild exon 23 c.6506G>A p.R2169H C1 missense
M13 mild exon 11 c.1648C>T p.R550C A2 missense
M14 severe intron 22 IVS22 / / inversion
M15 mild exon 11 c.1636C>T p.R546W A2 missense
M16 mild exon 16 c.5405A>G p.Y1802C A3 missense
M17 severe intron 22 IVS22 / / inversion
M18 mild exon 22 c.6304G>A p.G2102S C1 missense
M19 severe intron 22 IVS22 / / inversion
M20 severe exon 19 c.6045G>A p.W2015X A3 nonsense
M21 mild exon 12 c.1834C>T p.R612C A2 missense
M22 mild exon 12 c.1834C>T p.R612C A2 missense
M23 severe exons 1-22 deletion ex1-22 / / large deletion
M24 severe intron 22 IVS22 / / inversion
C1§ severe exons 10-11 deletion ex10-11 / / large deletion
C2§ severe exons 10-11 deletion ex10-11 / / large deletion
C3 severe exon 3 c.331G>A p.A111T A1 missense
C4 severe intron 22 IVS22 / / inversion
P1° moderate exon 18 c.5883G>A p.W1961X A3 nonsense
P2 mild exon 11 c.1700T>C p.I567T A2 missense
P3 mild exon 11 c.1700T>C p.I567T A2 missense
P4 mild exon 11 c.1700T>C p.I567T A2 missense