Table 1.

NR2F2 Sequence Alterations Identified in Individuals with AVSDs and Other Heart Structural Phenotypes

Family	Subject	Sex	Phenotype	DNA Mutationa	Protein Changeb	Variant Type	GERP++c	De Novo or Inherited	Seen in Unrelated Control Subjectsd
1	I:1	M	TOF	c.220_222dup	p.Gln75dup	in-frame duplication	–	ND	no
1	II:1	M	cAVSD	c.220_222dup	p.Gln75dup	in-frame duplication	–	inherited from affected father	no
1	II:2	M	AS and VSD	c.220_222dup	p.Gln75dup	in-frame duplication	–	inherited from affected father	no
2	II:1	F	cAVSD	c.1022C>A	p.Ser341Tyr	missense	5.15	de novo	no
3	II:1	M	iAVSD	c.614A>T	p.Asn205Ile	missense	5.05	de novo	no
4	II:1	F	ubAVSD	c.753G>C	p.Glu251Asp	missense	4.17	inherited from unaffected mother	no
5	II:1	F	cAVSD	c.1234G>T	p.Ala412Ser	missense	5.74	inherited from unaffected father	yes
6	II:1	M	pAVSD	c.509A>T	p.Asp170Val	missense	5.00	ND	no
7	II:1	F	HLHS	c.970+1G>A	–	splice donor	4.06	de novo	no
8	II:1	M	CoA	(14;15)(q23;q26.3)	–	balanced translocation	–	de novo	no

Abbreviations are as follows: AVSD, atrioventricular septal defect; pAVSD, partial AVSD; cAVSD, complete AVSD; ucAVSD, unbalanced complete AVSD; iAVSD, intermediate AVSD; TOF, tetralogy of Fallot; HLHS, hypoplastic left heart syndrome; AS, aortic stenosis; VSD, ventricular septal defect; CoA, coarctation of aorta; –, not applicable; ND, parent DNA was unavailable.

^aPosition on NR2F2 cDNA RefSeq NM_021005.3.

^bPosition on NR2F2 protein product RefSeq NP_066285.1.

^cGERP++ are single-nucleotide conservation scores.

^dControl subjects include 894 and 4,300 European samples from UK10K and NHLBI-ESP data sets, respectively.