Table 1.
Prioritized Rare Recessive Variants Present in AOH Regions and Predicted to Be Deleterious in Subject 1
| Gene | Type | Exon | Effect | HGVS Genomic Change (GenBank ID) | cDNA | Protein | CADD Phred Score |
|---|---|---|---|---|---|---|---|
| DENND4B | Ins | 18 | F | g.153907306_ 153907307insGCTGCTGC (NC_000001.10) | c.2702_2703insGCAGCAGC | p.Gln904Hisfs∗48 | 32 |
| LENEP | SNV | 1 | MS | g.154966258C>G (NC_000001.10) | c.175C>G | p.Leu59Val | 23.6 |
| SPTA1 | SNV | 14 | SP | g.158639351C>G (NC_000001.10) | c.1680G>C | – | 23.1 |
| ITLN1 | SNV | 8 | MS | g.160846459G>A (NC_000001.10) | c.937C>T | p.Arg313Cys | 24 |
| MCM6 | SNV | 17 | MS | g.136598443A>G (NC_000002.11) | c.2428T>C | p.Tyr810His | 24.2 |
| MYLK | Ins | 23 | F | g.123383093_ 123383099dup (NC_000003.11) | c.3838_3844dupGAAAGCG | p.Glu1282Glyfs∗51 | 36 |
| AFF1 | SNV | 5 | SP | g.88011230C>T (NC_000004.11) | c.1170+8C>T | – | 4.535 |
| ADAMTS16 | SNV | 16 | MS | g.5239937C>T (NC_000005.9) | c.2422C>T | p.Arg808Trp | 25.7 |
| ID4 | SNV | 1 | MS | g.19838067C>G (NC_000006.11) | c.82C>G | p.Leu28Val | 25.7 |
| ZNF596 | Del | 4 | CSP | g.193799_ 193812delCTGCAAGGTGAGCT (NC_000008.10) | c.217_223+7delCTGCAAGGTGAGCT | – | 23.2 |
| C8orf34 | SNV | 13 | S, SP | g.69728122T>C (NC_000008.10) | c.1551T>C | – | 6.825 |
| PKHD1L1 | SNV | 71 | MS | g.110523018A>G (NC_000008.10) | c.11408A>G | p.His3803Arg | 24.2 |
| TRPM6 | SNV | 18 | MS | g.77411729C>G (NC_000009.11) | c.2319G>C | p.Gln773His | 26.1 |
| CCDC81 | SNV | 4 | MS | g.86103688C>T (NC_000011.9) | c.404C>T | p.Ser135Leu | 28.3 |
| METTL7B | SNV | 1 | MS | g.56075840C>T (NC_000012.11) | c.302C>T | p.Pro101Leu | 33 |
| EXD1 | SNV | 8 | MS | g.41488231G>C (NC_000015.9) | c.539C>G | p.Ala180Gly | 24.5 |
| DUOX2 | SNV | 30 | SP | g.45388019C>T (NC_000015.9) | c.4080+7G>A | – | 5.471 |
| AARS | SNV | 6 | MS | g.70304215G>A (NC_000016.9) | c.700C>T | p.Pro234Ser | 28.9 |
| NSF | SNV | 20 | MS | g.44832731G>A (NC_000017.10) | c.2209G>A | p.Gly737Arg | 33 |
| USP29 | SNV | 4 | MS | g.57642673G>A (NC_000019.9) | c.2630G>A | p.Gly877Glu | 24.4 |
Abbreviations are as follows: AOH, absence of heterozygozity; Ins, insertion; Del, deletion; SNV, single-nucleotide variant; MS, missense variant; F, frameshift variant; S, synonymous variant; SP, putative splice variant; ncRNA, non-coding RNA; and CSP, canonical splice site.