Table 1.

List of pathogenic variants found in Patient-1 and Patient-2.

Patient	Gene	Variant Description	Freq.*	Variant Origin
Patient-1	CCDC40	NG_029761.1(NM_017950.3): c.1989 + 1G > A; p.(=)	0.0008%	P
		NM_017950.3: c.2824_2825insCTGT; p.(Arg942Thrfs*57)	0.0042%	M
Patient-2	DNAH5	NM_001369.2: c.4530del; p.(Asn1511Metfs*6)	New	M
		NM_001369.2: c.6000C > A; p.(Tyr2000*)	New	P
	DNAH7	NM_018897.3: c.8209G > A; p.(Gly2737Ser)	0.0008%	P
		NM_018897.3: c.11947C > T; p.(Arg3983Trp)	0.8666%	M

M = maternal origin; P = paternal origin; * = from Exome Aggregation Consortium (ExAC) and dbSNP databases.