| Frequency | |
|---|---|
| Total number of SNVs in the proband | 40,123 | 
| Number of previously described SNVs * [excluded] | 36,165 | 
| SNVs identified as coding silent, intergenic, intronic, UTR and synonymous mutations, quality score < 20, PhyloP score < 3 [excluded] | 3,702 | 
| Remaining candidate SNVs | 256 |