Identification of TBX2 and TBX3 variants in patients with conotruncal heart defects by target sequencing

Table 1 Clinical information and variant characteristics of TBX2 and TBX3 in patients with CTDs

Patient	Gender	Age	Cardiac phenotype	Gene	Location in gene	Function	Nucleotide change	Amino acid change	dbSNP ID	SIFT	Mutation taster	PolyPhen-2	ExAC allele frequency
1	F	4 months	TOF	TBX2	exon7	Missense	1822C>T	R608W	rs764896880	0.01	Disease causing	1.000	1.726e−05
2	F	8 months	TOF	TBX2	exon3	Missense	746C>T	T249I	rs778075071	0.02	Disease causing	0.967	6.633e−05
3	F	5 months	SV	TBX2	exon3	Missense	746C>T	T249I	rs778075071	0.02	Disease causing	0.967	6.633e−05
4	F	5 years	SV	TBX2	exon3	Missense	746C>T	T249I	rs778075071	0.02	Disease causing	0.967	6.633e−05
5	M	6 months	TOF	TBX2	exon7	Missense	1847G>A	R616Q	rs191930922	0.01	Disease causing	0.865	0.0008162
6	F	3 years	SA	TBX2	exon7	Missense	1847G>A	R616Q	rs191930922	0.01	Disease causing	0.865	0.0008162
7	M	1 year	TGA	TBX3	exon6	Missense	574G>A	A192T	rs768160499	0.11	Disease causing	1.000	2.471e−05
8	M	1 year	TOF	TBX3	exon1	Missense	193A>C	M65L	/	0.56	Disease causing	0.734	8.675e−06
9	M	5 months	TOF	TBX3	exon7	Missense	1685C>T	A562V	rs201325654	0.1	Disease causing	0.849	0.002761
10	M	6 months	TOF	TBX3	exon7	Missense	1685C>T	A562V	rs201325654	0.1	Disease causing	0.849	0.002761
11	F	5 months	TOF	TBX3	exon7	Missense	1685C>T	A562V	rs201325654	0.1	Disease causing	0.849	0.002761
12	F	6 months	TOF	TBX3	exon7	Missense	1685C>T	A562V	rs201325654	0.1	Disease causing	0.849	0.002761
13	M	4 years	TGA	TBX3	exon7	Missense	1685C>T	A562V	rs201325654	0.1	Disease causing	0.849	0.002761

F female, M male, CTDs conotruncal heart defects, TOF tetralogy of Fallot, SA single atrium, SV single ventricle, TGA transposition of the great arteries

ISSN: 1479-7364