Case report: genetic analysis of a child with 18q deletion syndrome and developmental dysplasia of the hip

BMC Medical Genomics

Table 1 HSPG2 sequencing results

Gene	Chromosome position	Ref_Transcript	Nucleotide/Amino acid Changes	Gene_Type	Allele frequency	Pathogenicity analysis
HSPG2	chr1:22206699	NM_005529	c.2244C > A(p.H748Q)	het	0.0002	Uncertain
HSPG2	chr1:22157321–22157321	–	c.11671 + 154insA	het	–	Uncertain

ISSN: 1755-8794