Table 2

Novel APC germline mutations identified in 327 of 680 FAP families (mutations not reported in the APC mutation database)

Family	Exon	Codon	Mutation	Consequence
40			Deletion exon 11–15M	Genomic deletion
340			Deletion Exon 11–15M	Genomic deletion
367			Deletion Exon 11–3'utr	Genomic deletion
630			Deletion >10Mb (del5q22)	Genomic deletion
271	4	141	423–1g-c	Splice-acceptor site
406	4	141	423–5 a-g	Splice-acceptor site
595	4	150	450delAGAA	Frameshift
597	4	156	468delCTGGT	Frameshift
105, 389	4	170	509delATAG	Frameshift
228	4	171	512insATAG	Frameshift
571	5	181	541 TAC-TAA; Gln-Stop	Nonsense
33	9	433	1297 CAG-TAG;Glu-Stop	Nonsense
713	11	470	1409–5a-g	Splice-acceptor site
761	11	471	1412delG	Frameshift
44	12	518	1554 insC	Frameshift
82	13	561	1683delGA	Frameshift
336	13	567	1700delGAAGT	Frameshift
741	14	582	1744–2a-g	Splice-acceptor site
302, 536, 556	14	620	1859–1860insCT	Frameshift
327, 744	14	621	1863delTTAC	Frameshift
624	14	622	1866 TAC-TAG; Tyr-Stop	Nonsense
567	14	630	1890delC	Frameshift
483	14	653	1958+1g-t	Splice-donor site
491	14	653	1958+1g-a	Splice-donor site
550	15A	669	2005delTT	Frameshift
717	15A	747	2240 TCA-TGA; Ser-Stop	Nonsense
263	15B	781	2343delC	Frameshift
605	15B	799	2396delAT	Frameshift
649	15B	811	2432 TCA-TGA; Ser-Stop	Nonsense
295	15B	828	2483delC	Frameshift
562	15B	834	2502delC	Frameshift
746	15C	837	2510delC	Frameshift
173	15C	849	2546delATAGAAG	Frameshift
551	15C	857	2570delG	Frameshift
339	15C	900	2698insTG	Frameshift
559	15C	916	2748delA	Frameshift
493	15D	947	2840delG	Frameshift
139	15D	962	2884delG	Frameshift
507	15D	974	2921delG	Frameshift
191	15D	976	2926delA	Frameshift
463	15D	985	2953insT	Frameshift
350	15D	997	2991 TAT-TAG; Tyr-Stop	Nonsense
366	15D	1024	3071delC	Frameshift
675	15E	1044	3131 TCA-TAA; Ser-Stop	Nonsense
402	15E	1049	3147 TGG-TGA; Cys-Stop	Nonsense
101	15E	1050	3149delC	Frameshift
704	15E	1071	3211 CAA-TAA; Gln-Stop	Nonsense
255	15E	1072	3216delGT	Frameshift
514	15E	1107	3319insGGAG	Frameshift
361	15E	1132	3394delG	Frameshift
680	15F	1155	3464 del AAGAA	Frameshift
393, 728	15F	1156	3467delAAGA	Frameshift
408	15F	1166	3497insA	Frameshift
74	15F	1168	3502 GAA-TAA; Glu-Stop	Nonsense
421	15F	1169	3505delGAGAA	Frameshift
524	15F	1187	3559insA	Frameshift
76	15F	1201	3602 TCA-TGA; Ser-Stop	Nonsense
616	15F	1209	3625delGAAC	Frameshift
535	15F	1244	3730 CAA-TAA; Gln-Stop	Nonsense
325	15F	1256	3768insA	Frameshift
505	15F	1262	3786 TAT-TAA; Tyr-Stop	Nonsense
292, 480	15F	1267	3799insGATA	Frameshift
382	15F	1269	3805delA	Frameshift
221	15F	1269	3806insT	Frameshift
369	15F	1272	3816ins14bp	Frameshift
653	15G	1278	3833 TCA-TAA; Ser-Stop	Nonsense
697	15G	1298	3892–3903del12ins4	Frameshift
357	15G	1321	3963delC	Frameshift
601	15G	1341	4022delG	Frameshift
730, 747	15G	1341	4022ins22	Frameshift
202, 707	15G	1342	4025ins T	Frameshift
518	15G	1373	4118delT	Frameshift
68	15H	1432	4295delC	Frameshift
500	15H	1451	4351 GAA-TAA; Glu-Stop	Nonsense
650	15H	1462	4385delA	Frameshift
522	15I	1495	4483delA	Frameshift
608	15I	1498	4492delG	Frameshift
655	15I	1517	4549 CAG-TAG; Gln-Stop	Nonsense
426	15I	1531	4592insA	Frameshift
400	15I	1541	4621 CAG-TAG; Gln-Stop	Nonsense
97	15I	1548	4643delA	Frameshift
84	15I	1556	4666insA	Frameshift
401	15I	1564	4693 TTA-TAA; Leu-Stop	Nonsense
591	15L	1823	5471delA	Frameshift
546	15N	1958	5873delA	Frameshift
701	15N	1986	5957delT	Frameshift
414	15T	2557	7671delCCTTCCTC	Frameshift