Figure 1.

Previously reported ACD variants and Chr 16q22 deletions. (A) Reported ACD variants. Nucleotide positions are depicted in the upper graphic, whereas amino acid positions are depicted in the lower graphic. Red text indicates variants described in this report. Bold text indicates variants associated with short telomeres. Non-bold text indicates variants found in cancer-prone families and associated with long telomeres. (DC) Dyskeratosis congenita, (AA) aplastic anemia, (PF) pulmonary fibrosis, (PTC) papillary thyroid carcinoma, (FM) familial melanoma, (HHS) Hoyeraal–Hreidarsson syndrome, (comp het) compound heterozygous variant found in the context of another disease-causing variant. (B) Reported Chromosome 16q22.1 deletions. Gray lines indicate deletions for which specific nucleotide information is not available. Asterisks indicate deletions that do not encompass ACD.