Exome sequencing identified rare variants in genes HSPG2 and ATP2B4 in a family segregating developmental dysplasia of the hip

Table 2 Post-alignment statistics (SNP and INDELS)

Sample ID	Number of SNPs	Synonymous Variants	Missense Variants	Stop Gained	Stop Lost	Number of INDELs	Inframe INDELs	Present in dbSNP142 (%)	Het/Homo Ratio	Ts/Tv Ratio
III-3	48,829	9,692	8,542	67	33	3,208	252	98.3	1.1	2.4
III-4	51,488	9,632	8,457	64	26	3,545	237	98.1	1.0	2.4
III-5	56,735	10,333	9,066	79	25	4,959	267	97.7	1.2	2.4
IV-2	50,994	9,826	8,712	46	28	3,343	174	98.2	1.1	2.4

ISSN: 1471-2350