Table 1.

Detected variants from the siblings with CHDs.

gene	Nucleotide change	Amino acid change	Existence of the heterozygous variant				dbSNP	Allele frequencya (%)	SIFT	PolyPhen-2
			brother	sister	father	mother
NODAL	1021G > T	V341l	yes	yes	yes	no	No Data	No Data	Deleterious (0)	Probably damaging (1)
CASQ2	1163A > G	E388G	yes	yes	no	yes	No Data	No Data	Tolerated (0.65)	Unknown (0)
SYNE1	17867G > A	R5956H	yes	yes	no	yes	rs80265744	0.04137	Deleterious (0.01)	Probably damaging (0.984)
TBX20	991A > G	T331A	yes	yes	no	yes	rs1420582400	0.0008023	Tolerated (1)	Benign (0)

^a Allele frequency were data from gnomAD exomes r2.1.1.