Table 1 Summary of the filtering to narrow down the candidates for the causal variant
Criteria for the filtering | Number of remaining variants |
|---|---|
Coding variants | 19, 215 |
Not in dbSNP130 | 2, 015 |
Not in eight HapMap exomes [12] | 1, 833 |
Not in in-house data of a healthy Japanese individual | 1, 336 |
Functional (missense, nonsense, frameshift and splice site) | 592 |
In run-of-homozygosity regions | 35 (in 33 genes) |