Figure 2.

Rare deep intronic variants in BRCA1 in families CF4358 and CF4455 and in PALB2 in family CF3302. (A) Pedigrees have the same notation as in Figure 1, with the addition of cancers of the stomach (St) and kidney (Kid) in family CF3302. (B) IGV images for each of the deep intronic variants show positions of the genomic variants (top) and of long-read cDNA sequences showing the transcriptional profiles created by the genomic variants compared to reference sequences (bottom).

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