TABLE 2.
Rare protein‐truncating and missense variants found in the regions where the sibships share two haplotypes, allowing for one phenocopy
| Family | Gene | Variant (coding DNA) | Variant (protein) | Rs‐number | Co‐segregation a | Frequency in GoNL b (%) |
|---|---|---|---|---|---|---|
| RF2 | ZAN | c.1249 + 1G>A | p.? | rs117406702 | 3/3 | 3.8 |
| c.8132C>T | p.P2711L | rs201771583 | 3/3 | 0 | ||
| SLC26A10 | c.1206G>A | p.W402* | rs113207856 | 2/3 | 0.7 | |
| c.1247T>G | p.L416R | rs111924104 | 2/3 | 0.7 | ||
| RF6 | CCHCR1 | c.121G>T | p.E41* | rs72856718 | 1/3 | 9.6 |
| c.803T>C | p.L232Q | rs11540822 | 1/3 | 9.6 | ||
| RF8 | PLA2G4C | c.893delC | p.P298fs | rs11564598 | 3/3 | 2.9 |
| c.452C>T | p.P151L | rs11564538 | 1/3 | 5.0 | ||
| RF14 | PKHD1L1 | c.7246 + 1G>C | p.? | rs17368310 | 3/3 | 4.5 |
| c.10310A>G | p.D3437G | rs118053060 | 2/3 | 2.5 |
a
Indicates the number of siblings carrying the allele out of the total number of siblings from this family tested.
b
Frequency in Genome of the Netherlands: genome sequences of 998 independent Dutch individuals. 22 Accession numbers for the transcripts and protein sequences used to describe the variants: ZAN: NM_003386.2, NP_003377.2; SLC26A10: NM_133489.2, NP_597996.2; CCHCR1: NM_001105564.1, NP_001099034.1; PLA2G4C, NM_003706.2, NP_003697.2; PKHD1L1: NM_177531.4, NP_803875.2.