Table II.

Cdc42 variants identified in 328 individuals with adult and congenital heart disease (Sydney study)

Location	Variant	Amino acid change	Patient group			Published SNP frequency	Reference
			AF (n = 100)	CHD (n = 200)	LVNC (n = 28)
Intron 3	−22G>T	NA	3 (0.03%)	1 (0.005%)	0	NA	Rs41300114
Intron 3	−8insT	NA	3 (0.03%)	8 (0.04%)	0	NA	Novel
Intron 3	−3T>C	NA	0	0	1 (0.04%)	3/90 (0.03%)	Rs17837976
Exon 5	180G>A	G60G	0	1 (0.005%)	0
Exon 5	276C>T	N92N	1 (0.01%)	0	0	1/90 (0.01%)	Rs16826534
Exon 6	462T>C	Y154Y	1 (0.01%)	0	0	4/85 (0.05%)	Rs16826536
Exon 8	546G>A	P182P	0	0	1 (0.04%)	1/85 (0.01%)	Rs16826536

AF, atrial fibrillation; CHD, congenital heart disease; LVNC, left ventricular noncompaction; NA, not available; SNP, single nucleotide polymorphism.