SNPs revealed by exome sequencing in chromatin remodeling genes of the index patient.

Bolded are the genes mutated in Coffin- Siris Syndrome. Standard nomenclatures for cDNA and protein variations (hg19) with their dbSNP reference numbers are listed. Genotypes variations from the reference hg19 genome sequence are indicated as 0/1 and 1/1 for heterozygous and homozygous variants, respectively. The effect of each SNP, denoted as single nucleotide variation (SNV), is shown as either synonymous (syn) or non-synonymous (nonsyn). Minor allele frequencies (MAF) are taken from the 1000 Genomes Project. N/A denotes non-available information.