Huizing et al. Page 29 Table 3: 1 A Estimated Carrier Rates and Prevalence of FSASD uthor Man 2 3 General Population Finnish Population (p.Arg39Cys) Pathogenic SLC17A5 variants/total alleles (q) 494/282,862 149/25,114 Pathogenic SLC17A5 variant allele frequency 1/572 1/168 uscr Carrier rate (heterozygotes) 1/286 1/84 ipt Predicted FSASD Prevalence 1/327,865 1/28,409 FSASD affected per million ~ 3 ~ 35 Estimated number of FSASD cases ~ 23,000 worldwide4 ~ 190 in Finland 1Calculated with Hardy-Weinberg principle of population genetics (See Supp Table S1) 2Based on pathogenic SLC17A5 variants in GnomAD database A 3 uthor Man Based on GnomAD data of p.Arg39Cys allele frequency on Finnish alleles 4Embryonic lethality of severe FSASD cases and childhood death of intermediate severe cases will reduce the number of living FSASD cases uscr ipt A uthor Man uscr ipt A uthor Man uscr ipt Neurosci Lett. Author manuscript; available in PMC 2021 June 11.