Additional file 1 of Identification of potential causal variants for premature ovarian failure by whole exome sequencing

Additional file 1: Table S1. List of POF/POI genes (131). List of candidate POF genes obtained from four public databases (DisGeNET, Monarch, MalaCards and NCBI:Gene) that collect genes and variants associated with human disease. Table S2. Primers used for confirming selected variants. Table S3. Genes with identical rare variants (MAF ≤ 0.01) detected in more than one individual. Table S4. Identical coding variants found in two or more individuals via whole-exome sequencing. VEST analysis generates values between 0 and 1, and scores ≥ 0.5 were classified as pathogenic variants and those < 0.5 as benign. CADD analysis generates a PHRED-like scaled value. Scores ≥ 20 were classified as pathogenic variants and those < 20 as benign. Variants satisfying both CADD ≥ 20 and VEST ≥ 0.5 were classified as pathogenic.