A list of genes with co-segregating LOF variants in two or more families.

NCBI reference SNPs (rsID) give previously described variants. GnomAD (popMAX/ non-Finnish European—NFE) and TOPMed allele frequencies were used to give the proportion of variants in the general population: 1 indicates presence across all individuals in the general population and 0 a complete absence. SIFT and PolyPhen were used on missense variants to predict the impact on protein functionality. PhastCons-7-way conservation scores were determined for SNVs: 1 indicates complete conservation across 7 mammalian species and 0 as no conservation. The families for which a particular variant is present are listed in the final column by the family ID.