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1A. A sequence within intron 12 of BRCA2 is somewhat exon-like, but does not have a sufficiently strong 5’ exon donor site to be efficiently included as a high frequency exon among BRCA2 splice variatnts. 1B. A T>G transversion generates a much stronger 5’ exon donor site consensus sequence, resulting in high-frequency inclusion of the cryptic exon.
