Gene	Transcript	Genotype	Variation	Novel	Patient count
G6PC3	NM_138387	Homozygous	c.2T>G, p.M1R	Yes	1
			c.583-G,p.Glu195fs	Yes	1
			c.758G>A, p.R253H	Yes	1
			c.323C>T, p.P108L	Yes	2
ELANE	NM_001972	Heterozygous	c.640-G, p.Gly214fs	No	1
			c.688-G, p.Asp230fs	No	1
JAGN1	NM_032492	Homozygous	c.297C>G, p.Y99*	No	1
			c.485A>G, p.Q162R	No	1
CSF3R	NM_000760	Homozygous	c.922C>T, p.R308C	No	1
CXCR4	NM_003467	Heterozygous	c.954-C,p.R308C	Yes	1
GFI1	NM_005263	Heterozygous	c.1208A>G, p.K403R	No	1
HAX1	NM_006118	Homozygous	c. 180-A, p.Gu60fs	No	1
SBDS	NM_016038	Homozygous	c.258+2T>C	No	1
VPS45	NM_007259	Homozygous	c.712G>A, p.E238K	No	1