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Example of a donor CSSV showing discordant splicing events in blood RNA-seq vs. in silico predictions but overall correct outcome (frameshift vs. no frameshift)
(A) The sashimi plot from RNA-seq demonstrates that a rare CSSV (NM_022765.4:c.571+1G>T) in MICAL1 (MIM: 607129) results in exon skipping leading to a frameshift.
(B) SpliceAI, SpliceAI_expanded, and MaxEntScan all predicted activation of a cryptic splice site resulting in frameshift.
