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ABSTRACTIt has long been known that canonical 5' splice site (5'SS) GT>GC mutations may be compatible with normal splicing. However, to date, the true scale of canonical 5'SS GT>GC mutations generating wild-type transcripts, both in the context of the frequency of such mutations and the level of wild-type transcripts generated from the mutation alleles, remain unknown. Herein, combining data derived from a meta-analysis of 45 informative disease-causing 5'SS GT>GC mutations (from 42 genes) anddoi:10.1101/479493 fatcat:a2xm3t4tmjhlffywbve2h7my7i