Table 1.

Variant table

Gene	Chr	dbSNP	DNA ref (HG19/GRC37)	Protein ref	Proband GT	Father GT	Mother GT	Unaffected sib GT	Variant type	CADD
ZMYND11	10	NA	g.294310G>A	ENSP00000381053.3:p.Ser421Asn	G|A	G|G	G|G	G|G	NSC	28.5
				Coverage depth	92	98	132	103

dbSNP, Databse for Short Genetic Variations; GT, genotype; NSC, missense variant, CADD, Combined Annotation-Dependent Depletion score; NA, not applicable.