Table 2. Candidate homozygous variants identified in the proband.
Successive filters | Number of variants identified |
---|---|
Homozygous variants in the 8 homozygous loci | 244 |
Excluding variant >1% in databases | 38 |
Excluding variant present in other local exomes | 4 (SASH1, LTV1, NAPB, EDEM2) |
Considering genes implicated in human cancers | 1 (SASH1) |