Table 2 Potential disease associated variants in genes with overlapping phenotype

Family ID	Patient ID	Zygosity	Gene	Variant	HGMD or dbSNP
FAM-11	GT-44^a	het	ITGA2	NM_002203:exon9:c.958C>G:p.L320V	No HGMD
		het	ITGA2	NM_002203:exon9:c.967delA:p.K323fs	No HGMD
	GT-70^b	het	ITGA2	NM_002203:exon14:c.1650A>C:p.E550D	No HGMD
	GT-75^b	het	ITGA2	NM_002203:exon13:c.1535G>A:p.G512D	No HGMD
FAM-10^c	GT-39^d	het	F8	NM_000132:exon14:c.3780C>G:p.D1260E	CM960556
	GT-41^d	het	F8	NM_000132:exon14:c.3780C>G:p.D1260E	CM960556
FAM-05	GT-24^d	hom	F8	NM_000132:exon14:c.3780C>G:p.D1260E	CM960556
	GT-23^d	hom	VWF	NM_000552:exon30:c.5191T>A:p.S1731T	CM012664

HGMD Human Gene Mutation Database, dbSNP Single Nucleotide Polymorphism Database, het heterozygous, hom homozygous
^aUnaffected family member
^bGT variant (heterozygous)
^cConsanguinity
^dAffected GT

Quick links

Search