Molecular Vision: Panagiotou, Mol Vis 2022; 28:57-69. Appendix 3. The 113 heterozygous variants identified with a read count >5 and CADD score >15 after filtering the exome sequencing data of patient IV:3 from family F1332.

Appendix 3. The 113 heterozygous variants identified with a read count >5 and CADD score >15 after filtering the exome sequencing data of patient IV:3 from family F1332.

To access the data, click or select the words “Appendix 3.” The chromosome, position, gene, coding effect, transcript accession number, exon, cDNA and protein changes, variant read depth, minor allele frequency in the Exome Variant Server and 1000 Genomes databases are shown as well as the PolyPhen2, Mutation Taster and CADD scores for the 113 heterozygous variants. B = benign, D = possibly damaging, N = probably neutral, DC = probably disease-causing. Note there are no variants in any of the known genes (listed in Appendix 2) in which mutations have previously been found to be associated with a MAC phenotype.