Table 2.

Pathogenic splice variants of MBD4, NTHL1, OGG1, NEIL1, and NEIL2 genes.

HGMD Accession	Genomic Coordinates and Human Genome Variation Nomenclature	Variant Class	Phenotype	Reference
MBD4
CS187177	c.335+1G>A	DM?	Glioblastoma	[67]
CS187176	c.1562-1G>T	DM?	Uveal melanoma	[67]
NTHL1
CS1512540	c.709+1G>A	DM	Nth endonuclease III-like 1 deficiency	[69]
OGG1
CM024572	c.137G>A	DM	Colorectal cancer	[70]
CS1515648	c.898+2T>G	DP	Breast cancer, in women, association with	[71]
CS1515649	c.948+2T>G	DP	Breast cancer, in women, association with	[71]
NEIL1
CS088022	c.434+2T>C	DFP	Altered splicing	[72]
NEIL2
CS053476	c.492-8C>T	DM?	Multiple colorectal adenoma	[73]

HGMD—Human Gene Mutation Database; DM—disease-causing mutation; DM?—probable disease-causing mutation; FP—in vitro or in vivo functional polymorphism; DP—disease-associated polymorphism; DFP—disease-associated polymorphism with additional functional evidence.