Table 3.

Summary of known and novel single-nucleotide polymorphisms (SNPs) in the coding regions of the HLX gene in congenital diaphragmatic hernia (CDH) patients

HLX exon	db SNP rs# cluster ID	Amino acid/nucleotide alteration	Heterozygosity dbSNPa	Allele frequency group 1b	Allele frequency group 2c
Exon 1	rs12141189	p.S116P	0.35	T = 0.81C = 0.19	T = 0.73C = 0.27
Exon 1	rs62621984	p.Q125H	—	C = 0.07A = 0.93	C = 0.02A = 0.98
Exon 1	rs12041280	p.A151T	—	Not detected	Not detected
Exon 2	—	c.A1162C/silent	—	A = 0.95C = 0.05	Not detected
Exon 4	rs2738755	p.P356L	0.44	T = 0.32C = 0.68	T = 0.26C = 0.74
Exon 4	rs3738182	p.E361E	0.32	Not detected	A = 0.14G = 0.86
Exon 4	rs11578466	p.A387G	0.14	G = 0.14T = 0.86	G = 0.13T = 0.87

^aHeterozygosity score dbSNP = heterozygosity score from dbSNP (http://www.ncbi.nlm.nih.gov/SNP/).

^bAllele frequency in 23 isolated CDH patients.

^cAllele frequency in 96 CDH patients, both isolated and with anomalies.