SMAD1 Loss-of-Function Variant Responsible for Congenital Heart Disease

Table 2

Nonsynonymous variations in candidate genes for congenital heart disease discovered via whole-exome sequencing as well as bioinformatical analysis.

Chr	Position (GRCh37)	Ref	Alt	Gene	Variation
1	44,595,817	A	C	KLF17	NM_173484.4: c.874A>C; p.(Lys292Gln)
1	223,176,637	T	G	DISP1	NM_032890.5: c.1898T>G; p.(Phe633Cys)
2	180,383,314	C	A	ZNF385B	NM_152520.6: c.448C>A; p.(Pro150Thr)
3	118,913,103	A	T	UPK1B	NM_006952.4: c.506A>T; p.(Gln169Leu)
4	146,436,029	C	A	SMAD1	NM_005900.3: c.264TC>A; p.(Tyr88)
5	10,649,993	G	A	ANKRD33B	NM_001164440.2: c.1253G>A
7	147,092,783	C	G		; p.(Arg418Gln)
11	40,137,545	A	G	CNTNAP2	NM_014141.6: c.1581C>G; p.(Asp527Glu)
14	34,263,135	T	C	LRRC4C	NM_020929.3: c.298A>G; p.(Arg100Gly)
16	72,993,460	C	G	NPAS3	NM_001164749.2: c.1186T>C;
20	58,416,533	G	T	ZFHX3	p.(Tyr396His)
				PHACTR3	NM_006885.4: c.585C>G; p.(Ile195Met)
					NM_080672.5: c.1530G>T; p.(Ala510Ser)

Alt: alteration; Chr: chromosome; Ref: reference.