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Filtering strategy. Total variants were filtered for confident variants. Included were variants in the exons ±2 bases into introns, either frameshift, in frame indel, stop/start codon change, missense or splice-variants <0.1% for homozygous and <0.01% for heterozygous, further filtered for CADD > MSC and manual check of variants in IGV. CADD, combined annotation-dependent depletion; MSC, mutation significance cutoff; IGV, Ingenuity Variant analysis.
