Genome-wide prediction of splice-modifying SNPs in human genes using a new analysis pipeline called AASsites

BMC Bioinformatics

Table 3 SNPs with known changes in splicing identified by AASsites

Protein	SNP	Change in splice pattern	Associated disease	Reference
GSTM4	rs41283498	Exon skipping	Lung cancer	[11]
PCTK3	rs55957903	Exon skipping	-
VHL	rs5030815	Exon skipping	Renal cell carcinoma	[12]
TSC2	rs45517091	Exon skipping	Tuberous sclerosis	[13]
GCSH	rs62054483	Exon skipping	Hyperglycinaemia	[14]
NCAN	rs61222528	Exon skipping	-
EZH2	rs1140478	Exon extension	Prostate cancer	[15]
ATP6V0A2	rs1139788	Exon extension	Cutis laxa	[16]

ISSN: 1471-2105