Table 3 Number of genetic variants selected from the overall number of candidates based on each step of the adopted filtering strategy
Filtering steps | Number of variants |
|---|---|
HET variants shared by patients II:6 and III:3 | 51,141 |
Coding variants | 3,664 |
Variants not present in ClinSeq or 1Â K-genome projects | 54 |
Mammalian conserved, PolyPhen-II not benign and/or SIFT not tolerated | 28 |
CADD > =10 | 13 |
Selected based on excess HET alleles in ExAC dataset | 8 |
Variants in genes moderately or strongly expressed in the CNS | 7 |
Variants in genes functionally involved in other CNS functions than embryonic development or tumor suppression | 4 |