Table 1. Type 2 VWD mutations identified among the 126 index cases.

SNP ID	Chr. position a	Base change	Exon	Amino acid change	Index cases	MAF in ExAC b	In silico prediction c	VWD type in database d
rs61748466	6155892	c.2278C > T	17	p.R760C	1	0.00002	3	2N
rs267607326	6132007	c.3437A > G	26	p.Y1146C	1	0	4	2A
rs61748511	6131999	c.3445T > C	26	p.C1149R	1	0	4	2A
rs61749395	6128641	c.3943C > T	28	p.R1315C	2	0.00002	4	2A/M
rs61750071	6128464	c.4120C > T	28	p.R1374C	11	0.00002	4	2A/M
rs61750100	6128067	c.4517C > T	28	p.S1506L	1	0	4	2A
rs61750598	6127570	c.5014G > A	28	p.G1672R	3	0.0007	1	2A

Abbreviations: Chr., chromosome; ExAC, Exome Aggregation Consortium; MAF, minor allele frequency; SNP, single nucleotide polymorphism; VWD, von Willebrand disease.

^aAccording to GRCh37p13.

^bMAF observed in 33,000 individuals from the non-Finnish European population in the ExAC database.

^cFor missense mutations, the predictions are classified according to damaging (1) or tolerated (0) using the programs SIFT, PolyPhen-2, Condel 2.0, and MutationTaster. The table presents the sum of all predictions.

^dvon Willebrand factor Variant Database, previously ISTH-SSC VWF Online Database.