Table 1. Rare variants identified by PCR and Sanger sequencing of the HOXB13 gene.

Position	Nucleotide change	Amino acid change	Rs number	Carrier allele frequency
				Controls	Cases
5′UTR	c.1-6G > A			0/759 (0%)	1/1215 (0.08%)
Exon 1	c.251G > A	p.G84E	rs138213197	6/759 (0.79%)	4/1215 (0.33%)
Exon 1	c.328C > G	p.P110A		0/759 (0%)	1/1215 (0.08%)
Exon 1	c.330C > A	p.P110P	rs33993185	1/759 (0.13%)	0/1215 (0%)
Exon 1	c.332C > T	p.A111V		0/759 (0%)	1/1215 (0.08%)
Exon 1	c.569C > T	p.P190L		0/759 (0%)	1/1215 (0.08%)
Intron 1	c.601 + 49G > A		rs200606700	0/759 (0%)	1/1215 (0.08%)
Exon 2	c.649C > T	p.R217C	rs139475791	1/765 (0.13%)	6/1206 (0.50%)
Exon 2	c.803G > A	p.R268Q		0/765 (0%)	1/1206 (0.08%)
Exon 2	c.832G > T	p.V278L	rs200997384	1/765 (0.13%)	0/1206 (0%)
3′UTR	c.855 + 28C > A			3/765 (0.39%)	5/1206 (0.41%)