Table 1.
Number of variants at each stage of the filtering process in Proband ( IV.1). SNV is single nucleotide variant. MAF is minor allele frequency. NMD is nonsense mediated decay.
| Filtering | Number of variants |
|---|---|
| Total SNVs | 24,378 |
| Functional SNVs (nonsense, missense, splice site or untranslated regions) | 7,438 |
| Novel/rare SNVs (<0.1% of MAF in dbSNP135, 1000 Genomes and EVS) | 101 |
| Heterozygous SNVs | 95 |
| Pathogenic SNVs by either SIFT or Polyphen2 | 71 |
|
| |
| Total Indels | 6,124 |
| Functional indels (frameshift) | 1,985 |
| Novel heterozygous indels | 145 |
| Frameshift and NMD | 40 |