Table 4.

Summary of PIK3CA 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	Missesnse	rs2230461	c.1173A > G	p.I391M	Benign	1
2	Synonymous	N/A	c.123A > T	p.T41T	Benign	25
3	Missense	N/A	c.124 T > G	p.L42V	Deleterious	25
4	Missense	N/A	c.127A > C	p.I43L	Benign	25
5	Missense	N/A	c.1395 T > A	p.N465K	Deleterious	3
6	Missense	N/A	c.1397C > G	p.P466R	Deleterious	3
7	Synonymous	N/A	c.1398A > C	p.P466P	Benign	3
8	Missense	N/A	c.1403A > C	p.K468T	Tolerant	3
9	Missense	N/A	c.1404A > T	p.K468N	Tolerant	3
10	Missense	rs200031978	c.1535G > T	p.G512V	Tolerant	45
11	Synonymous	rs116336243	c.2181A > T	p.T727T	Benign	1
12	Frameshift insertion	N/A	c.2399_2400insA	p.F801Lfs2	Pathogenic	7
13	Missense	rs1261983174	c.2402 T > G	p.F801C	Deleterious	7
14	Missense	N/A	c.2621G > C	p.S874T	Deleterious	20
15	Missense	N/A	c.2632C > G	p.H878D	Deleterious	1
16	Frameshift insertion	N/A	c.2906_2907insC	p.Q969Hfs10	Pathogenic	6
17	Missense	N/A	c.2913C > T	p.E970K	Pathogenic	6
18	Synonymous	N/A	c.2913C > T	p.C971C	Benign	4
19	Synonymous	N/A	c.2916A > T	p.T972T	Benign	1