Gene structure of SETD5 and splicing analysis of the mutant transcript. Exons are shown as black boxes, except for exons 8 to 10 that form the SET domain, depicted in blue, and the affected exon 16, depicted in red. Wildtype splicing events between exons 15 and 16 are shown as black lines. The affected intronic base is highlighted in bold and underlined in the wildtype splicing event. The G to A variant generates two possible splicing events. Cryptic splicing between exon 15 and the cryptic splice site in exon 16 is diagrammed in 1 with the red box indicating the deleted bases. Exon skipping from exon 15 to 17 is diagrammed in 2. The spliceAI score for the wildtype and mutated acceptor site (including the cryptic acceptor site) are shown with an illustrative light blue bar. The resulting premature stop codons and the lost acceptor site in the alternative splicing events are highlighted in red
