Table 1. Examples of genes with differential splicing events that were annotated with degenerative diseases associated SNVs.

GENE SYMBOL	AS TYPES	ASSOCIATED DISEASES
ASPM	SE	Primary Microcephaly
LAMP2	SE	Danon Disease
COL6A3	SE; MXE	Collagen VI-related myopathy
LMNA	RI	Hutchinson-Gilford syndrome, Cardiovascular phenotype
TPM1	SE; MXE	Dilated cardiomyopathy, Hypertrophic cardiomyopathy
VCAN	SE; MXE	Wagner syndrome, Vitreoretinopathy