Table 1. ZFPM2 missense variants identified in this and previous studies.

Nucleotide substitution	Amino acid change	CTD type, (patient number)	Report status	Database information	Protein domain	PolyPhen -2 prediction	Inheritance status
c. 1015G>A12	p.V339I	DORV(1)/DORV(1)	This study/previously reported	rs201845067/1000 Genomes with MAF 0.001/ESP	Zinc-finger motif 1	Benign	NA/De novo
c. 1276G>A	p.A426T	DORV(1)	This study	rs35843564/1000 Genomes with MAF 0.005/ESP	Unknown	Benign	NA
c.2107A>C12	p.M703L	TOF(3)/TOF(1)	This study/previously reported	rs121908603/1000 Genomes with MAF 0.001	Zinc-finger motif 6	Possibly damaging	Inherited/De novo
c. 2528C>T	p.T843M	TOF(1)	This study	none	Unknown	Probably damaging	NA
c. 89A>G10,11	p.E30G	TOF(1)/DORV(1)	Previously reported	rs121908601/1000 Genomes with MAF:0.002/ESP	N-terminal transcriptional repression domain	Possibly damaging	Inherited/NA
c. 679A>G11	p.I227V	DORV(1)	Previously reported	rs202204708/ESP	N-terminal transcriptional repression domain	Probably damaging	NA
c. 1632G>A11	p.M544I	TOF(1)	Previously reported	rs187043152/1000 Genomes with MAF 0.002/ESP	Unknown	Benign	NA
c. 1831G>A12	p.A611T	TOF(1)	Previously reported	none	Unknown	Benign	De novo
c. 1968A>G10	p.S657G	TOF(1)	Previously reported	rs28374544/1000 Genomes with MAF 0.033/ESP	Unknown	Benign	Inherited
c. 2209A>G12	p.K737E	DORV(1)	Previously reported	none	Nuclear localization signal	Probably damaging	NA
c. 2665C>G12	p.Q889E	DORV(1)	Previously reported	rs146423225/1000 Genomes vwith MAF 0.006/ESP	Unknown	Benign	De novo

CTD, conotruncal heart defect; DORV, double-outlet ventricle outflow; MAF, minor allele frequency; ESP, Exome Sequencing Project; NA, not available.