Distribution of alleles among the 154 different unique variants found in the 3WINTERS-IPS cohort. (A) European population. (B) Iranian population. Group 1 reports the alleles of different variants identified only in 1 patient, in either the heterozygous or homozygous state. Group 2 reports the alleles of different variants found in 2 or 3 patients (2 up to 4 alleles). Group 3 reports the alleles of the variants identified in ≥3 patients (>4 alleles). The variants identified in both populations are reported in red. The potential splice site mutations are underlined. The variants not previously reported in the EAHAD, HGMD, or Ensembl databases are reported in blue. The p.Arg1336Gln has been counted together with c.2397_2400dupCATG because these 2 variants are on the same allele.