Table 1 Missense variants with a complete deficit of observed homozygous carriers, versus an expected number in the population set of 153,054 Icelanders, that present in homozygous state in the clinical WGS set.
From: Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene
Genea | Position (hg38) | cDNA change | Protein change | MAF Iceland | MAF Europeb | O/E HMZ | AR disease listed on OMIM | ClinVar ID | Previously reported as HMZ |
|---|---|---|---|---|---|---|---|---|---|
SLC52A2 | chr8:144360604 | c.1016 T > C | p.Leu339Pro | 0.60% | 0.01% | 0/6 | Brown-Vialetto-Van Laere syndrome, type 2 | 39577 | Yes |
SLC13A5 | chr17:6703031 | c.655 G > A | p.Gly219Arg | 0.49% | 0.03% | 0/4 | Early infantile epileptic encephalopathy, type 25 | 140752 | Yes |
GLB1 | chr3:33058265 | c.557 A > C | p.Glu186Ala | 0.52% | 2 × 10−3% | 0/4 | GM1-gangliosidosis | NA | Yes |
CPSF3 | chr2:9452920 | c.1403 G > A | p.Gly468Glu | 0.41% | NA | 0/3 | NA | NA | No |
GNE | chr9:36227397 | c.1132 G > T | p.Asp378Tyr | 0.60% | 0.03% | 0/6 | GNE-myopathy | 283278 | No |
