Table 4.

Phenotypes, copy number variants and numbers of characterized mutations for the genes encoding platelet cytoplasmic proteins

Gene symbol	MIM #	Protein level		CNV		HGMD® Public
		Incr.	Defic.	Gain	Loss	Misnon	Reg	Indel	Del	Splicing	Total
AP3B1	603401	No	Yes			3	0	0	2	0	5
BLOC1S3	609762	No	Yes	CG	CL	0	0	1	0	0	1
DTNBP1	607145	No	Yes			2	0	0	0	0	2
GNA13	604406	No	No			0	0	0	0	0	0
GNAS	139320	No	Yes			48	0	38	7	11	107
HPS1	604982	No	Yes		PL-14A	6	0	14	0	2	23
HPS3	606118	No	Yes	PG-1		1	0	0	1	5	7
HPS4	606682	No	Yes			6	0	2	0	0	9
HPS5	607521	No	Yes			3	0	4	0	0	7
HPS6	607522	No	Yes			0	0	2	0	0	2
PLA2G4A	607522	Yes	Yes			0	0	0	0	0	0
PTGS1	176805	No	No			6	1	0	0	0	7
RAP1B	179530	No	Mice			0	0	0	0	0	0
TPH1	191060	No	Mice			0	0	0	0	1	1
Total						75	1	61	10	19	171

Details as given in Table 1