Filtering of variants identified by whole exome sequencing
| Proband | Father | Mother | |
|---|---|---|---|
| Total variants | 19 940 | 19 888 | 19 747 |
| Known variants (dbSNP132) | 19 371 | 19 311 | 19 220 |
| Transitions to Transversion ratio (dbSNP132) | 3.2 | 3.2 | 3.3 |
| Amino acid changing variants | 9926 | 10 019 | 9889 |
| Amino acid changing variants with Minor allele frequency<1% | 600 | 627 | 617 |
| High quality de novo variants | 3 |