Table 2

Mutations identified in the APC gene

Family No	Exon/ intron	Position	Nucleotide change^2-150	Mutation type	Consequence of mutation
1	Ex 3	301	GGGAA G GATC → GGGAATGATC	T substitution	Stop at codon 101
2	Ex 4	487	AACTT C AGAA → AACTTTAGAA	T substitution	Stop at codon 163
3	Ex 4	451	AAG AAGA AAA → AAGAAA	4 bp deletion	Stop at codon 169
4	Ex 9	996	GTCG C GAACT → GTCGTGAACT	C deletion	Stop at codon 453
5	Ex 9	996	TGTCG C GAACT → TGTCGTGAACT	T substitution	Stop at codon 332
6	Ex 9	1005	TTGCT AGCTATGTCTAGCT CCAAGAC → TTGCTCCAAGAC	14 bp deletion	Stop at codon 364
7	Ex 11	1495	TAAGA C GATAT→ TAAGATGATAT	T substitution	Stop at codon 499
8	Ex 13	1619	CTTACAGCAG → CTTA A CAGCAG	A insertion	Stop at codon 577
9	Ex 14	1907	GAGGTGGGAT → GAGG G TGGGAT	G insertion	Stop at codon 650
10	Ex 15	2096	GCATTATGGGA → GCATTA A GGGA	A substitution	Stop at codon 699
10	Int 14	—	tatata c aga → tatatataga	T substitution	Unknown significance
11		2225	CAATA TT ATGT → CAATAATGT	TT deletion	Stop at codon 754
12	Ex 15	2537	TCGTT C TGAAA → TCTCGTTTGAA	C deletion	Stop at codon 860
13	Ex 15	2799	AAAC ACTT ACAAT → AAACACAAT	ACTT deletion	Stop at codon 954
14	Ex 15	2803	CACT TACA ATTT → CACTATTT	TACA deletion	Stop at codon 954
15	Ex 15	2907	GTAG T AGTGA→ GTAGAGTGA	T deletion	Stop at codon 1004
16	Ex 15	3183	AATAAA ACAAA GTG → ATAAAGTG	ACAAA deletion	Stop at codon 1063
17	Ex 15	3183	AATAAA ACAAA GTG → ATAAAGTG	ACAAA deletion	Stop at codon 1063
18	Ex 15	3183	AATAAA ACAAA GTG → ATAAAGTG	ACAAA deletion	Stop at codon 1063
19	Ex 15	3231	CCTGT TTATA CTG → CCTGTCTG	TTATA deletion	Stop at codon 1079
20	Ex 15	3459	CAGCA TGAA GAAG→CAGCAGAAG	TGAA deletion	Stop at codon 1164
21	Ex 15	3283	TTGGA C AGCA → TTGGATAGCA	T substitution	Stop at codon 1125
22	Ex 15	3620	AGTAA A ACCG → AGTAAACCG	A deletion	Stop at codon 1297
23	Ex 15	4330	TCCTCAAACA→TCCTCAA A ACA	A insertion	Stop at codon 1454
24	Ex 15	4330	TCCTCAAACA→TCCTCAA A ACA	A insertion	Stop at codon 1454
25	Ex 15	4424	TGCTG C AGTT→ TGCTGAGTT	C deletion	Stop at codon 1506
26	Ex 15	4647	AACCAAGAGA → AACCAA A GAGA	A insertion	Stop at codon 1457
27	Ex 15	5773	AACCCATACTTCAGAAACAATCCAC → AAACC CATACTTCAGAAACAACCATA CTTCAGAAACAA TCCAC	17 bp duplication	Stop at codon 1965

↵2-150 Intronic sequences are described in lower case and exonic in upper case.