Table 7.

Summary of SMAD4 variants identified in Ugandan CRC patients: each variant is characterized by its mutation type, dbSNP ID, HGVS (Human Genome Variation Society) notation for coding (c.) and protein (p.) changes, clinical significance, and the number of cases with each mutation

Variant No	Type of mutation	dbSNPID	HGVS.c	HGVS.p	Clinical significance	No. of cases with mutation
1	Missense	N/A	c.1268G > T	p.G423V	Deleterious	5
2	Frameshift insertion	N/A	c.556dupC	p.S187Kfs2	Pathogenic	68
3	Missense	N/A	c.563A > C	p.N188T	Tolerant	56