Figure 3.
Three rare deep intronic variants in ATM in families CF5431, CF6072, and CF6132. (A) Pedigrees have the same notation as in Figure 1, with the addition of non-Hodgkin's lymphoma (NHL) in family CF5431 and ataxia telangiectasia (AT) in family CF6072. Family CF6072 includes two variants in ATM and one in BRCA2. (B) IGVs for each of the three deep intronic ATM variants showing positions of the genomic variants (top) and of long-read cDNA sequences showing the transcriptional profiles caused by the genomic variants (bottom). ATM c.8418 + 704G > T in family CF6132 yields three different aberrant transcripts, as described in the text.
