Table II.
Number of variants present in the patients at different stages of the filtering process.
| Number | ||
|---|---|---|
| Filtering criteria | T267 | T287 |
| Total number of variants | 221,478 | 198,478 |
| Variants not in dbSNP, MAF<1% | 22,723 | 19,655 |
| Filtering using 1000 Genomes and ESP | 22,529 | 17,494 |
| Variants in exonic or splicing | 1,082 | 1,021 |
| Non-synonymous and frameshift variants | 950 | 917 |
| Functional analysis by SIFT and Polyphen-2 | 776 | 753 |
| Genes associated with TAAD | 1 | 1 |
MAF, minor allele frequency; ESP, exome sequencing project; SIFT, sorts intolerant from tolerant; Polyphen-2, polymorphism phenotyping version 2; TAAD, thoracic aortic aneurysm and dissection; SNP, single nucleotide polymorphism.