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Table 4 Characteristics of probands with potentially damaging CNV or SNV

From: Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder

 

WES probands

with pdSNV ASC102 list n (%)

CMA probands with pdCNV n (%)

WES and CMA probands

with pdCNV or pdSNV ASC102 list n (%)

Total (%)

69 (9%)

105 (11%)

123 (18%)

 Average diagnosis age (SD)

7.3 (7.3)

7.1 (8.1)

6.4 (7.4)

Females (n, (%))

20 (9%)

36 (12%)

35 (19%)

 Average diagnosis age (SD)

8.2 (7.0)

69 (7.5)

6.2 (6.6)

Males (n, (%))

49 (8%)

69 (10%)

88 (18%)

 Average diagnosis age (SD)

6.9 (7.5)

6.7 (7.5)

6.9 (7.6)

  1. pdCNV potentially damaging copy number variation, pdSNV potentially damaging single nucleotide variation