Table 1.

Summary of APC 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	Synonymous	rs142720069	c.120G > A	p.E40E	Benign	1
2	Synonymous	rs2229992	c.1404 T > C	p.Y468Y	Benign	2
3	Frameshift insertion	N/A	c.1480_1481insC	p.D494Afs25	Pathogenic	4
4	Synonymous	rs351771	c.1581G > A	p.A527A	Benign	5
5	Synonymous	rs77921116	c.1641A > G	p.E547E	Benign	1
6	Missense	N/A	c.2127G > C	p.R709S	Benign	35
7	Missense	N/A	c.2128A > T	p.N710Y	Deleterious	4
8	Missense	N/A	c.2284A > T	p.S762C	Benign	1
9	Missense	rs763546422	c.2460A > T	p.R820S	Benign	1
10	UTR5	rs78429131	c.31 T > G	-	Benign	2
11	Missense	rs777568434	c.3482A > G	p.Y1161C	Deleterious	57
12	Missense	N/A	c.3485G > C	p.S1162T	Benign	38
13	Missense	N/A	c.3592G > C	p.E1198Q	Benign	8
14	Synonymous	rs1554085294	c.3594G > A	p.E1198E	Benign	8
15	Synonymous	rs74380081	c.3678A > G	p.Q1226Q	Benign	1
16	Missense	N/A	c.379 T > A	p.S127T	Benign	4
17	Missense	N/A	c.4253G > A	p.S1418N	Deleterious	4
18	Synonymous	rs41115	c.4425G > A	p.T1475T	Benign	8
19	Frameshift insertion	N/A	c.4933_4934insC	p.E1645Afs6	Pathogenic	33
20	Synonymous	rs42427	c.4980G > A	p.G1660G	Benign	1
21	Frameshift insertion	N/A	c.5161_5162insC	p.K1721Tfs30	Pathogenic	1
22	Frameshift insertion	N/A	c.5388_5389insC	p.N1797Qfs5	Pathogenic	3
23	Missense	rs459552	c.5411 T > A	p.V1804D	Benign	21
24	N/A	N/A	c.5498G > A	p.G1833E	Tolerant	1
25	Missense	N/A	c.5498G > C	p.G1833A	Deleterious	3
26	Synonymous	N/A	c.5499A > T	p.G1833G	Benign	35
27	Synonymous	N/A	c.5502 T > G	p.T1834T	Benign	1
28	Missense	N/A	c.5504C > A	p.P1835H	Deleterious	1
29	Synonymous	N/A	c.5505 T > A	p.P1835P	Benign	1
30	Synonymous	N/A	c.5727 T > G	p.L1909L	Benign	4
31	Stop gained	rs1186128913	c.5728C > T	p.Q1910X	Pathogenic	4
32	Synonymous	rs465899	c.5826G > A	p.P1942P	Benign	10
33	Missense	rs1561605162	c.6067G > C	p.E2023Q	Deleterious	5
34	Missense	N/A	c.6630G > T	p.R2210S	Deleterious	6
35	Stop gained	N/A	c.6633delA	p.M2212	Pathogenic	1
36	Missense	N/A	c.6636G > A	p.M2212I	Deleterious	1
37	Missense	N/A	c.6637A > C	p.T2213L	Deleterious	1
38	Missense	N/A	c.6638 T > C	p.I2213T	Deleterious	1
39	Stop gained	rs587781392	c.667C > T	p.R223X	Pathogenic	1
40	Missense	N/A	c.6961C > A	p.P2321T	Tolerant	32
41	Missense	N/A	c.7304G > C	p.R2435T	Benign	9
42	Missense	N/A	c.7308A > T	p.R2436S	Deleterious	9
43	Frameshift insertion	N/A	c.7420_7421insA	p.S2474fs19	Pathogenic	6
44	Missense	rs1455101572	c.7423C > G	p.L2475V	Benign	6
45	Synonymous	rs35043160	c.7650A > G	p.G2550G	Benign	1
46	Missense	N/A	c.7652G > C	p.S2551T	Deleterious	1
47	Missense	N/A	c.7654 T > A	p.S2552T	Deleterious	2
48	Stop gain	Rs137854568	c.850C > T	p.R284X	Pathogenic	1