Table 1:

General Classification of Splice-Altering Intronic Mutations

Intronic variation type	Subtype	Effect on splicing
1 (point mutations)	1a	Point mutations creating a consensus splice donor or acceptor site
	1b	Point mutations creating an exonic splice enhancer
	1c	Point mutations creating an acceptor site resulting in the inclusion of a cryptic 3’ terminal exon
2 (substitutions, deletions or insertions)		Variants resulting in inclusion of novel pseudoexons without alteration of clearly defined splicing motifs
3 (translocations)		Translocations (or apparent translocations) of sequences from other chromosomal loci into introns, altering splicing patterns