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. 2020 Mar 3;22(6):1005–1014. doi: 10.1038/s41436-020-0766-9

Fig. 2. Illustrative examples of variant splicing analysis.

Fig. 2

DKC1 c.915+10G>A could not be identified by reverse transcription polymerase chain reaction (RT-PCR) and Sanger sequencing but alternative donor splice site usage was identified by RNA-seq. P3H1 (LEPRE1) c.1224-80G>A causes at least three abnormal splicing events using alternative splice donor and acceptor sites, as well as increasing levels of intron retention. DCTN1 c.414+1G>A appears to alter a canonical splice donor site but exons 5–7, although annotated, are never expressed and are constitutively spliced out. SF3B4 c.417C>T is a synonymous coding variant but causes formation of a 125-nt “exitron,” an intronic region within an exon. A3SS alternative 3´splice site, A5SS alternative 5´ splice site, Ctrl control, Pt patient.