Table I.

SLFN14 variants reported to date in patients with inherited macrothrombocytopenia, platelet-type bleeding disorder 20 (BDPLT20).

Patient	Genomic Variant	Protein effect	Variant type	Inheritance	Platelet count (x109/L)	Mean platelet volume (MPV fl)	ISTH BAT Score	Aggregation/Secretion Defect	Reference
A; III 2	c.659 T > A	p.V220D	Missense	Het	140	9.1	5	ADP, Collagen and PAR-1-activating peptide/ATP	[10]
A; III 3	c.659 T > A	p.V220D	Missense	Het	74	10.4	10	ADP, Collagen and PAR-1-activating peptide/ATP	[10]
A; IV 2	c.659 T > A	p.V220D	Missense	Het	110	9.3	13	ADP,Collagen and PAR-1-activating peptide/ATP	[10]
A; IV 4*	c.659 T > A	p.V220D	Missense	Het	100	11.1	22	ADP, Collagen and PAR-1-activating peptide/ATP	[10]
A; IV 5	c.659 T > A	p.V220D	Missense	Het	116	11.2	21	ADP, Collagen and PAR-1-activating peptide/ATP	[10]
B; I 2	c.657 A > T	p.K219N	Missense	Het	83	11.9	13	ADP, Collagen and PAR-1-activating peptide/ATP	[10]
B; II 3*	c.657 A > T	p.K219N	Missense	Het	68	11.9	20	ADP, Collagen and PAR-1-activating peptide/ATP	[10]
C; II 2*	c.652 A > G	p. K218E	Missense	Het	89	13.0	NA	ADP, Collagen and PAR-1-activating peptide/ATP	[10]
D; II 1	c.667 C > T	p. R223W	Missense	Het	87	12.1	5	NA/NA	[11]
D; II 2	c.667 C > T	p. R223W	Missense	Het	91	21.0	2	NA/NA	[11]
D; III 3*	c.667 C > T	p. R223W	Missense	Het	79	12.3	9	NA/NA	[11]
E; I 1*	c.657 A > C	p.K219N	Missense	Het	NR	NR	NR	NA/NR	[12]

All patients identified with variants in the SLFN14 gene and affected by inherited bleeding. *:Proband in family case; Het: Heterozygous inheritance pattern; International Society on Thrombosis and Haemostasis Bleeding Assessment Tool (BAT) score; NA: Not Available for in vitro study; NR: Not Reported in publication. Thrombocytopenia was defined as platelet count <150x10⁹/L