Table 1.

List of LD potential candidate variants that showed autosomal recessive inheritance pattern.

	Gene name	Chrom	ref	Alt	Effect	HGVS.c	HGVS.p	dbSNP151_ID	1000G_AF	ExAC_AF	gnomAD_exomes_AF
(1)	ZC3H12A	chr1	G	T	Missense	c.99G>T	p.Arg33Ser	rs116208741	0.00139776	0.002405	0.002499959
(2)	ZC3H12A	chr1	C	T	Missense	c.95C>T	p.Pro32Leu	rs115805535	0.00119808	0.002117	0.002117
(3)	TMEM18A	chr7	C	T	Missense	c.116G>A	p.Gly39Glu	rs183593116	0.00219649	0.004772	0.00515989
(4)	CPNE7	chr16	C	T	Missense	c.898C>T	p.Pro300Ser	rs150443459	0.000399361	0.0002966	0.0003931566
(5)	ASXL2	chr2	C	T	Missense	c.1489G>A	p.Ala497Thr	rs192716734	0.00139776	0.003805	0.004480134
(6)	MYO1D	chr17	G	A	Missense	c.2293C>T	p.Pro765Ser	rs7209106	0.0043	0.002759	0.002424917
(7)	EPB42	chr15	C	T	Missense	c.1477G>A	p.Gly493Ser	rs148871144	0.000199681	0.0007578	0.0007836991
(8)	FAM220A	chr7	G	A	Missense	c.437C>T	p.Pro146Leu	rs75910050	0.00139776	0.0009884	0.0009261591
(9)	OR10A2	chr11	C	A	Missense	c.741C>A	p.Phe247Leu	rs150322658	0.00119808	0.0014	0.001421724

LD, laterality defect.