Table 2.

Variants identified in Colombian patients with HB

ID	Nucleotide change NG_007994.1	Nucleotide change NM_000133.3	Location	Aminoacid change	Mutation effect	Previously reported	Domain
HB_01	g.22769A>G	c.520+13A>G	IVS 5	N/A	Substitution	Yes	Splicing
HB_02	g.37493A>G	c.*1157A>G	Exon 8	3′ UTR	Substitution	Yes	3′ UTR
HB_03	g.36085C>T	c.1135C>T	Exon 8	p. R379*	Nonsense	Yes	Protease
HB_04	g.11409C>T	c.223C>T	Exon 2	p. R75*	Nonsense	Yes	Gla
HB_05	g.22754C>T	c.518C>T	Exon 5	p.A173V	Missense	Yes	EGF2
HB_06	g.22769A>G	c.520+13A>G	IVS 5	N/A	Substitution	Yes	Splicing
HB_07	g.35917G>A g.36288G>C	c.967G>A c.1338G>C	Exon 8	p.E323K p.K446N	Double missense	Yes	Protease
HB_08	Del. exons 5 and 6	N/A	Exon 5 and 6	N/A	Deletion	Yes	N/A
HB_09	Del. exons 3 and 4	N/A	Exon 3 and 4	N/A	Deletion	No	N/A
HB_10	g.22769A>G	c.520+13A>G	IVS 5	N/A	Substitution	Yes	Splicing
HB_11	g.35831G>A	c.881G>A	Exon 8	p.R294Q	Missense	Yes	Protease
HB_12	g.22769A>G	c.520+13A>G	IVS 5	N/A	Substitution	Yes	Splicing
HB_13	g.35842C>T	c.892C>T	Exon 8	p.R298*	Nonsense	Yes	Protease
HB_14	g.25527C>A g.25386G>A	c.721C>A c.580A>G	Exon 6	p.Q241K p.T194A*	Missense	Yes	Protease
HB_15	g.25377C>T	c571C>T	Exon 6	p.R191C	Missense	Yes	Activation peptide
HB_16	g.11646A>G	c.272A>G	Exon 3	p.Y91C	Missense	Yes	Gla
HB_17	g.25377C>T	c.571C>T	Exon 6	p.R191C	Missense	Yes	Activation peptide
HB_18	g.22769A>G	c.520+13A>G	IVS 5	N/A	Substitution	Yes	Splicing
HB_19	g.22769A>G	c.520+13A>G	IVS 5	N/A	Substitution	Yes	Splicing
HB_20	g.22769 A>G	c.520+13A>G	IVS 5	N/A	Substitution	Yes	Splicing

^aAcording to HGVS nomenclature, it represent a stop codon.