TABLE II.
Exome Variants Filtering of Two Marfanoid Neonatal Progeroid Syndrome Patients
| Number of variants | ||
|---|---|---|
| Filter | Patient 1 | Patient 2 |
| Total | 28,991 | 28,529 |
| Functiona | 9,010 | 8,911 |
| Frequencyb | 161 | 95 |
| Conservationc | 105 | 64 |
| Gened | 2 | 3 |
a
Missense, nonsense, splice site, and frameshift variants.
b
Variants not present in the 1,000 Genome Project database, 69 Complete Genomic genomes, dbSNP 134, or the NHLBI Exome Sequencing Project database.
c
Variants with GERP++ conservation score >2.0.
d
Variants present in the same gene.