For each of the 141 bases of the RNU4-2 gene (Seq.), the number of participants with a rare allele at that position on the cDNA, stratified by affection status and inheritance information of the carried rare allele. The bases corresponding to the three variants with a PPP > 0.5 are in bold. These three bases and adjacent bases for which no unaffected participants carry a rare allele are highlighted. At each base, the number of distinct rare alternate alleles (NAA) observed in the 100KGP is shown. Underneath, the presence of an alternate allele in gnomAD is indicated by a filled circle (GAD).
