Table 1.
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 |