Table 3.
Summary of exome variants and test of inheritance models
| Proband | |||||
|---|---|---|---|---|---|
| Total variants | 114,576 | ||||
| Coding variants | 23,569 | ||||
| Nonsynonymous, splice-site, indel variants | 11,636 | ||||
| Rare variants | 1,952 | ||||
| Dominant model | Recessive models | ||||
| Test of inheritance model | De novo | Compound heterozygous | Homozygous | X-linked hemizygous | |
| Candidate genes | 1 (ETV3L) | 8 (APOB, CAST, LRRIQ4, SCN3A, EPHA10, ACAN, KIAA1683, AGBL1) | 2 (AHNAK, TMEM87Ba) | 4 (DLG3, GLRA4, RBMXL3, BRS3) | |
| Top candidates | 1 (ETV3L) | 2 (APOB, LRRIQ4) | 1 (TMEM87Ba) | 2 (RBMXL3, BRS3) | |
aThis variant was originally identified as a homozygous variant. However, after further investigation, it was shown to be a paternally inherited hemizygous missense variant, which appeared to be homozygous because of a maternally inherited 2q13 microdeletion including TMEM87B.