splice_region_variant
exonic_splice_region_variant
2015-12-01T14:38:47Z
A sequence variant in which a change has occurred within the exonic region of the splice site, 1-2 bases from boundary.
ANNOVAR:exonic;splicing
SO:0002084
Seattleseq:coding-near-splice
exonic splice region variant
kareneilbeck
sequence