Table 1. The rare variants identified in DLC1 isoform 1.

Variant type	Patient ID	Gender	Age of diagnosis	Diagnosis	Exon	Nucleotide alterationa	Amino acid alteration	SIFT score	SIFT prediction ()	Number of mutations in patients	Number of mutations in controls	In dbSNPb	ALT allele frequency in dbSNPc
Private variants	67	M	5	VSD&PFO	2	c.797G>A	p.Gly266Glu	0.406	Tolerated	1/151	0/900	Na	Na
	153	F	8	VSD	3	c.1048G>A*	p.Ala350Thr	0.368	Tolerated	1/151	0/900	Na	Na
	168	F	5	ASD	3	c.1079T>A*	p.Met360Lys	0.001	Damaging	1/151	0/900	Na	Na
	169	F	22	PS	4	c.1252G>A*	p.Glu418Lys	0.027	Damaging	1/151	0/900	Na	Na
	89	F	2	PDA	4	c.1298C>A	p.Thr433Asn	0.02	Damaging	1/151	0/900	Na	Na
	131	F	8	PDA	9	c.[1661A>T(+)1662T>C]*	p.Asp554Val	0.014	Damaging	1/151	0/900	Na	Na
	190	F	7	VSD	9	c.[1661A>T(+)1662T>C]*	p.Asp554Val	0.014	Damaging	1/151	0/900	Na	Na
Other rare variants	49	F	9	TOF	2	c.659C>T	p.Ala220Val	1	Tolerated	1/151	1/900	Na	Na
	61	F	6	TOF	3	c.1051C>T	p.Arg351Trp	0	Damaging	1/151	2/900	rs144283917	2.324/5869
	42	F	17	VSD	4	c.1237T>A*	p.Leu413Met	0.005	Damaging	1/151	0/900	rs143447199	1/4545
	55	F	26	PDA	9	c.1683C>A	p.Asp561Glu	0.171	Tolerated	1/151	2/900	rs201661577	5/2174
	124	F	4	VSD	9	c.2854C>G*	p.Leu952Val	0.003	Damaging	1/151	0/900	rs184157214	1/2000
	28	M	1	VSD	16	c.4111G>C*	p.Val1371Leu	0.016	Damaging	1/151	0/900	rs142865083	1/2000
	8	M	12	VSD	18	c.4533C>G	p.Ile1511Met	0.001	Damaging	1/151	0/900	rs78322853	Na

Note. Na, no available data; M, male; F, female; VSD, ventricular septal defect; PFO, patent foramen ovale; ASD, atrial septal defect; PS, pulmonary stenosis; PDA, patent ductus arteriosus; TOF, tetralogy of Fallot. a, Nucleotide numbering is according to the RefSeq database NM_182643.2. b, The version of dbSNP used in the table is dbSNP build 137. c, The alternative allele frequency form the dbSNP database is calculated by the alternative allele count/two times the number of individuals assayed. *The mutant vectors were constructed according to these variants.