Table 1.
Other variants identified during whole-genome sequencing
| Gene | Chromosome | Coordinate | Ref | Alt | Protein Chg | Notes |
|---|---|---|---|---|---|---|
| Compound heterozygous variants | ||||||
| MBD3L5 | chr19 | 7032665 | A | G | R129R | Synonymous |
| MBD3L5 | chr19 | 7032688 | T | G | I137S | Missense |
| PRND | chr20 | 4706780 | C | T | UTR 3′ | Possible artifact |
| PRND | chr20 | 4706782 | A | T | UTR 3′ | Possible artifact |
| SIRT6 | chr19 | 4174745 | C | A | A241S | Missense |
| SIRT6 | chr19 | 4174758 | G | C | N236K | Missense |
| Homozygous alternate variants | ||||||
| EPHA10 | chr1 | 38218738 | G | C | C389W | Missense |
| OLA1 | chr2 | 175113308 | G | A | UTR 3′ | UTR 3′ |
Other compound heterozygous and homozygous alternative variants were identified during whole-genome sequence interpretation. These variants have been ruled out as causal in this case using our interpretation pipeline.