Abbreviations: AS, acceptor splice sites; DS, donor splice sites; WT, wild‐type; NA, not applicable.
a Location of 10 variants relative to the nearest splice site; “+ ” indicates close to 3′AS; “ ” indicates close to 5′DS.
b Score changes with BDGP expressed in percentage.
c ESE / ESS motifs ratio (ESE, exonic splicing enhancer; ESS, exonic splicing silencer).