Table 1.
Variants detected via whole-exome sequencing
| Gene symbol | Chromosome: position start | Reference DNA | Alternative DNA | HGVSc | HGVSp | Variant type | Existing variation | Genotype (heterozygous/homozygous) |
|---|---|---|---|---|---|---|---|---|
| ALPK3 | 15:85,383,921 | AC | A | c.2018delC | p.Gln675SerfsX30 | Frameshift | Homozygous | |
| ARHGAP6 | X:11,157,357 | C | T | c.2551G>A | p.Glu851Lys | Missense | Homozygous | |
| DOCK11 | X:117,702,043 | A | G | c.953A>G | p.Tyr318Cys | Missense | Homozygous | |
| HEPH | X:65,417,725 | G | C | c.1573G>C | p.Asp525His | Missense | rs3747359 | Homozygous |
| KANSL1L | 2:210,887,679 | A | AT | c.2831dupA | p.Asn944LysfsX2 | Frameshift | Homozygous | |
| POU3F4 | X:82,763,774 | G | C | c.442G>C | p.Gly148Arg | Missense | Two hemizygotes with 0.00006970 allele frequency and four heterozygotic states in ExAC database | Homozygous |
| RRAGB | X:55,784,736 | A | G | c.1001A>G | p.Glu334Gly | Missense | Homozygous | |
| TNK2 | 3:195,594,921 | C | T | c.2299G>A | p.Asp767Asn | Missense | rs373598238 | Homozygous |
HGVSc, Human Genome Variation Society coding sequence name; HGVSp, Human Genome Variation Society protein sequence name; ExAC, Exome Aggregation Consortium.