Table 7.

Variants identified in the FHOD3 gene (transcript NM_001281740, MANE select).

Patient ID	Genotype	Variant type	AA change	rs ID	CADD	ACMG/ClinVar	GnomAD-AF	Additional variant
HCM-103	Het	Missense	Ex1:p.(Arg27Pro)	rs755501978	33	VUS/VUS	0.0001619	Unique variant
HCM-104	Het	Missense	Ex6:p.(Leu177Phe)	rs781645381	26.8	VUS/NA	NA	Unique variant
HCM-105	Het	Missense	Ex12:p.(Ser549Asn)	NA	21.1	NA	NA	Unique variant
HCM-106	Het	Missense	Ex15:p.(Arg637Gln)	rs151313792	31	VUS/LB	0.001728	Unique variant
HCM-48	Het	Missense	Ex15:p.(Arg637Gln)	rs151313792	31	VUS/LB	0.001728	MYBPC3: p.(Cys1202Leufs*35)
HCM-27	Het	Missense	Ex15:p.(Arg637Gln)	rs151313792	31	VUS/LB	0.001728	MYBPC3: p.(Arg597Gln)
HCM-107	Het	Missense	Ex15:p.(Arg637Gln)	rs151313792	31	VUS/LB	0.001728	Unique variant
HCM-108	Het	Missense	Ex15:p.(Arg638Trp)	rs141148037	35	VUS/NA	0.0004252	SVIL: p.(Glu291Lys)
HCM-109	Het	Missense	Ex17:p.(Glu687Lys)	rs778872098	24.8	VUS/NA	0.000007986	Unique variant
HCM-110	Het	Missense	Ex28:p.(Val1570Ile)	rs201824593	33	VUS/NA	0.0007425	Unique variant

AA, amino acid; ACMG, American College of Medical Genetics and Genomics; Het, heterozygous; LB, likely benign; VUS, variant of uncertain significance; NA, no data available; CADD, combined annotation-dependent depletion scores according to CADD model v1.3; GnomAD-AF, allele frequency according to gnomAD V2.1.