Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech

Table 4 Summary of most highly prioritized variants in each study participant ^a

Participants	Genes	Chromosomes	Coordinates	EVS allele frequency	TGP allele frequency	dbSNP ID	Zygosity	Reads supporting call (%)
1	ATP13A4	Chr3	193,171,979-193,171,979	0.0886	0.05576	rs35424709	Heterozygous	60.47
	KIAA0319	Chr6	24,588,884-24,588,884	0.427	0.234	rs4504469	Heterozygous	52.08
2	ATP13A4	Chr3	193,171,979-193,171,979	0.0886	0.05576	rs35424709	Heterozygous	45.76
3	No reportable findings
4	CNTNAP2	Chr7	148,106,475 to 148,106,477	Not found	Not found	Not found	Heterozygous	74.36
	ATP13A4	Chr3	193,171,979-193,171,979	0.0886	0.05576	rs35424709	Heterozygous	53.97
5	No reportable findings
6	CNTNAP2	Chr7	146,372,040-146,372,040	Not found	Not found	Not found	Heterozygous	38.46
7	CNTNAP1	Chr17	38,101,263-38,101,263	Not found	Not found	Not found	Heterozygous	40
8	FOXP1	Chr3	71,185,577-71,185,577	Not found	Not found	Not found	Heterozygous	93.33
9	KIAA0319	Chr6	24,588,884-24,588,884	0.427	0.234	rs4504469	Heterozygous	41.96
	SETX	Chr9	135,204,010-135,204,010	0.0009	0.0096	Not found	Heterozygous	48.17
10	CNTNAP2	Chr7	148,106,475 to 148,106,477	Not found	Not found	Not found	Heterozygous	74.36
	KIAA0319	Chr6	24,588,884-24,588,884	0.427	0.234	rs4504469	Heterozygous	57.5

^adbSNP, Single-Nucleotide Polymorphism Database; EVS, Exome Variant Server; TGP, 1000 Genomes Project.

ISSN: 1866-1955