Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients

Friedl, Waltraut; Aretz, Stefan

doi:10.1186/1897-4287-3-3-95

Hereditary Cancer in Clinical Practice

Supplementary table 1. 315 different point mutations detected in 597 out of 1166 unrelated patients suspected of FAP. (The DNA mutation numbering is based on the cDNA sequence for APC where +1 corresponds to the A of the ATG translation initiation codon in the reference sequence Genbank, NM_000038.2.)

From: Familial Adenomatous Polyposis: Experience from a Study of 1164 Unrelated German Polyposis Patients

Exon/Intron	Codon	Mutation	Consequence	Number of alleles
3	122	c.366delG	p.Gly122fs	1
3	129	c.386_387insT	p.Glu129fs	1
3	139	c.416_419delAAGA	p.Lys139fs	1
intron 3	141	c.423-5A>G		2
intron 3	141	c.423-3T>A		1
intron 3	141	c.423-2A>T		1
intron 3	141	c.423-1G>A		1
intron 3	141	c.423-1G>T		1
intron 3	141	c.423-1G>C		1
4	141	c.423G>T	p.Arg141>Ser*	2
4	142	c.426_427delAT	p-Ser142fs	1
4	150	c.450_453delAGAA	p.Lys150fs	2
4	151	c.453delA	p.Glu151fs	1
4	152	c.455_459delAAAAG	p.Glu152fs	1
4	153	c.457_458delAA	p.Lys153fs	1
4	156	c.468_472delCTGGT	p.Asp156fs	1
4	159	c.477C>G	p.Tyr159X	2
4	161	c.481C>T	p.Gln161X	1
4	170	c.509_512delATAG	p.Asp170fs	4
4	171	c.509_512dupATAG	p.Ser171fs	1
intron 4	177	c.531+1G>A		1
intron 4	177	c.531+5G>C		1
intron 4	177	c.531+5_531+8delGTAA		2
intron 4	178	c.532-2A>G		1
intron 4	178	c.532-1G>T		1
5	181	c.540_541insA		1
5	181	c.541C>T	p.Gln181X	4
5	191	c.573dupT	p.Tyr191fs	1
5	197	c.591_592delAG	p.Arg197fs	1
5	203	c.607delC	p.Gln203fs	2
5	213	c.637C>T	p.Arg213X	7
5	214	c.641dupC	p.Ala214fs	1
6	216	c.646C>T	p.Arg216X	6
6	225	c.673G>T	p.Glu225X	1
6	226	c.677delA	p.Lys226fs	1
6	232	c.694C>T	p.Arg232X	6
6	242	c.726delA	p.Pro242fs	1
intron 6	243	c.730-1G>T		2
7	264	c.790C>T	p.Gln264X	1
7	267	c.799G>T	p.Gly267X	1
7	271	c.812delT	p.Met271fs	1
7	271	c.811_818delATGGCAAC	p.Met271fs	1
7	278	c.834G>A	p.Gln278	1
8	283	c.847C>T	p.Arg283X	6
8	297	c.891_894delACAC	p.Thr297fs	1
8	302	c.904C>T	p.Arg302X	5
intron 8	311	c.933+2T>C		1
intron 8	311	c.933+1delG		1
9	314	c.940dupA	p.Met314fs	1
9	332	c.994C>T	p.Arg332X	9
9	340	c.1018_1019dupTC	p.Ser340fs	1
9	367	c.1100_1101delCT	p.Ser367fs	1
9	368	c.1102dupG	p.Val368fs	1
9	374	c.1120dupC	p.Ar.374fs	1
9	386	c.1158_1159delAC	p.Ala386fs	1
9	398	c.1192_1193delAA	p.Lys398fs	2
9	405	c.1213C>T	p.Arg405X	3
9	414	c.1240C>T	p.Arg414Cys	1
9	414	c.1242delC	p.Arg414fs	1
9	423	c.1269G>A	p.Trp423X	2
9	433	c.1297C>T	p.Glu433X	2
9	436	c.1307dupA	p.Asn436fs	1
intron 9	438	c.1312+2dupT		3
intron 9	438	c.1312+2T>C		1
intron 9	438	c.1312+3A>G;		2
intron 9	438	c.1312+5C>A		1
10	438	c.1313dupT	p.Met438fs	1
10	445	c.1333_1334dupCA	p.Gln445fs	1
10	457	c.1370C>G	p.Ser457X	2
10	457	c.1370C>A	p.Ser457X	2
intron 10	470	c.1409-5A>G		1
intron 10	470	c.1409-2A>C		1
intron 10	470	c.1409-2A>G		1
intron 10	470	c.1409-1G>A		1
11	471	c.1411G>T	p.Gly471X	1
11	471	c.1412delG	p.Gly471fs	1
11	473	c.1417delC	p.Gln473fs	1
11	478	c.1434delA	p.Ile478fs	1
11	493	c.1479_1483delCAGTA	p.Tyr493fs	1
11	499	c.1495C>T	p.Arg499X	8
11	516	c.1548G>C	p.Lys516Asn	1
12	517	c.1549-1G>A		1
12	519	c.1555dupC	p.Leu519fs	1
12	527	c.1581_1590del10bp	p.Arg527fs	1
12	528	c.1584dupA	p.Ala528fs	2
12	538	c.1613A>T	p.Glu538Val	1
12	541	c.1621C>T	p.Gln541X	1
12	542	c.1624C>T	p.Gln542X	1
13	554	c.1660 C>T	p.Arg554X	10
13	561	c.1683_1684delGA	p.Lys561fs	1
13	562	c.1685_1686insCC	p.Thr562fs	1
13	563	c.1688delT	p.Leu563fs	1
13	564	c.1690C>T	p.Arg564X	9
13	567	c.1700_1704delGAAGT	p.Gly567fs	1
13	571	c.1712delC	p.Ala571fs	1
13	580	c.1737dupT	p.Lys580fs	1
13	581	c.1742delA	p.Lys581fs	1
13	581	c.1742A>G	p.Lys581Arg	1
intron 13	582	c.1744-2A>G		1
intron 13	582	c.1744-[5_13del; 17_18del]		1
14	583	c.1748C>A	p.Ser583X	1
14	592	c.1775T>G	p.Leu592X	1
14	593	c.1779G>A	p.Trp593X	1
14	599	c.1797C>A	p.Cys599X	1
14	614	c.1840dupG	p.Gly614fs	2
14	616	c.1847delT	p.Leu616fs	1
14	617	c.1849delG	p.Val617fs	1
14	620	c.1858_1859dupCT	p.Leu620fs	3
14	621	c.1861dupA	p.Thr621fs	1
14	621	c.1863_1866delTTAC	p.Thr621fs	3
14	622	c.1866C>G	p.Tyr622X	1
14	628	c.1884_1897dup14	p.Thr628fs	1
14	629	c.1886delT	p.Leu629fs	1
14	629	c.1886dupT	p.Leu629fs	1
14	629	c.1885_1886dupTT	p.Leu629fs	1
14	630	c.1890delC	p.Ala630fs	1
14	636	c.1907dupG	p.Gly636fs	1
14	639	c.1916delT	p.Leu639fs	2
14	650	c.1948G>T	p.Glu650X	1
14	652	c.1956C>T	p.His652*	1
14	653	c.1957A>C	p.Arg653*	2
14	653	c.1957A>G	p.Arg653Gly*	1
intron 14	653	c.1958+1G>T		4
intron 14	653	c.1958+1G>A		1
intron 14	653	c.1958+3A>G		2
intron 14	653	c.1959-2A>G		1
15A	653	15A: c.1959delG		1
15A	658	c.1972G>T	p.Glu658X	1
15A	669	c.2005_6delTT	p.Leu669fs	1
15A	685	c.2055G>A	p.Trp685X	1
15A	703	c.2107delG	p.Ala703fs	2
15A	703	c.2107dupG	p.Ala703fs	1
15a	710	c.2130delC	p.Leu710fs	1
15A	712	c.2136_2139delTTCA	p.His712fs	1
15A	737	c.2209_2218del10	p.Tyr737fs	1
15A	747	c.2240C>G	p.Ser747X	2
15B	757	c.2269delC	p.Gln757fs	1
15B	767	c.2299C>T	p.Gln767X	3
15B	770	c.2309delC	p.Gln770fs	1
15B	773	c.2318_ 2319delTT	p.Phe773fs	2
15B	779	c.2335_2336dupTT	p.Leu779fs	2
15B	781	c.2343delC	p.Pro781fs	1
15B	791	c.2373_2374delCA	p.Lys791fs	2
15B	797	c.2391_2392delTG	p.Gly797fs	1
15B	799	c.2396_2397delAT	p.Tyr799fs	1
15B	805	c.2413 C>T	p.Arg805X	3
15B	811	c.2432C>G	p.Ser811X	1
15B	828	c.2483delC	p.Thr828fs	1
15B	834	c.2502delC	p.Ser834fs	1
15C	837	c.2510delC	p.Ser837fs	1
15C	841	c.2523dupA	p.Leu841fs	1
15C	843	c.2527_2530delAGTT	p.Ser843fs	1
15C	849	c.2547_2548delTA	p.Asp849fs	1
15C	849	c.2546_delATAGAAG	p.Asp849fs	1
15C	849	c.2547_2550delTAGA	p.Asp849fs	2
15C	850	c.2548delAGAA	p.Arg850fs	1
15C	855	c.2563G>T	p.Glu855X	1
15C	855	c.2563_2564delGA	p.Glu855fs	1
15C	857	c.2570delG	p.Gly857fs	1
15C	863	c.2589C>G	p.Tyr863X	1
15C	871	c.2612delG	p.Gly871fs	1
15C	872	c.2614_2617delACTT	p.Thr872fs	1
15C	876	c.2626C>T	p.Arg876X	6
15C	900	c.2698_2699insTG	p.Ser900fs	1
15C	903	c.2709_2712delCAGA	p.Asp903fs	1
15C	916	c.2748delA	p.Thr916fs	1
15C	929	c.2787_2790delTACA	p.His929fs	1
15C	932	c.2795C>G	p.Ser932X	1
15C	934	c.2802_2805delTTAC	p.Thr934fs	3
15C	935	c.2805C>G	p.Tyr935X	6
15D	939	c.2816delA	p.Lys939fs	1
15D	947	c.2840delG	p.Cys947fs	1
15D	951	c.2853T>A	p.Tyr951X	1
15D	951	c.2853 T>G	p.Tyr951X	1
15D	962	c.2884delG	p.Asp962fs	1
15D	965	c.2893_2896delAATA	p.Asn964fs	3
15D	974	c.2921delG	p.Gly974fs	1
15D	976	c.2926delA	p.Arg976fs	1
15D	978	c.2932C>T	p.Gln978X	2
15D	985	c.2953_3022del70	p.Ser985fs	1
15D	985	c.2953dupT	p.Ser985fs	1
15D	997	c.2991T>G	p.Tyr997X	1
15D	1000	c.3000C>G	p.Tyr100X	1
15D	1010	c.3027_3028dupTA	p.Ser1010fs	1
15D	1023	c.3068delC	p.Thr1023fs	1
15D	1023	c.3069_3070delAC	p.Thr1023fs	1
15D	1024	c.3071delC	p.Pro1027fs	1
15D	1032	c.3095C>A	p.Ser1032X	1
15D	1041	c.3121C>T	p.Gln1041X	2
15E	1044	c.3131C>A	p.Ser1044X	1
15E	1045	c.3133C>T	p.Gln1045X	1
15E	1049	c.3146G>A	p.Trp1049X	1
15E	1049	c.3147G>A	p.Trp1049X	1
15E	1050	c.3148delG	p.Ala1050fs	1
15E	1050	c.3149delC	p.Ala1050fs	1
15E	1055	c.3164_3168delTAATA	p.Ile1055fs	4
15E	1055	c.3164_3165delTA	p.Ile1055fs	1
15E	1061	c.3183_3187delACAAA	p.Lys1061fs	43
15E	1062	c.3184_3187delCAAA	p.Gln1062fs	1
15E	1062	c.3186_3187delAA	p.Gln1062fs	1
15E	1065	c.3193C>T	p.Gln1965X	1
15E	1068	c.3202_3205delTCAA	p.Ser1068fs	19
15E	1071	c.3211C>T	p.Gln1071X	1
15E	1072	c.3215_3216delGTinsC	p.Ser1072fs	1
15E	1075	c.3225delT	p.Tyr1075fs	1
15E	1087	c.3260_3261delTC	p.Leu1087fs	1
15E	1088	c.3263delA	p.Gln1088fs	1
15E	1096	c.3286C>T	p.Gln1096X	3
15E	1107	c.3316_3319dupGGAG	p.Ala1107fs	1
15E	1114	c.3340C>T	p.Arg1114X	5
15E	1121	c.3361delA	p.Glu1121fs	1
15E	1127	c.3379C>T	p.Gln1127X	1
15E	1129	c.3386T>C	p.Leu1129Ser	1
15E	1130	c.3390T>A	p.Cys1130X	1
15E	1132	c.3394delG	p.Glu1132fs	1
15E	1147	c.3439dupT	p.Tyr1147fs	1
15E	1147	c.3441C>G	p.Tyr1147X	1
15E	1152	c.3454C>T	p.Gln1152X	1
15E	1155	c.3464_3468delAAGAA	p.Glu1155fs	1
15F	1156	c.3467_3470delAAGA	p.Glu1156fs	4
15F	1157	c.3471_3474delGAGA	p.Glu1157fs	1
15F	1166	c.3497dupA	p.Tyr1166fs	1
15F	1167	c.3501_3504delTGAA	p.Asn1167fs	1
15F	1168	c.3502G>T	p.Glu1168X	2
15F	1169	c.3505_3509delGAGAA	p.Glu1169fs	1
15F	1186	c.3556_3557 delGA	p.Asp1186fs	1
15F	1187	c.3559dupA	p.Ile1187fs	2
15F	1193	c.3577_3578delCA	p.Gln1193fs	1
15F	1194	c.3581C>A	p.Ser1194X	1
15F	1194	c.3581C>G	p.Ser1194X	1
15F	1196	c.3587C>A	p.Ser1196X	1
15F	1198	c.3593C>G	p.Ser1198X	1
15F	1199	c.3595_3596delAA	p.Lys1199fs	4
15F	1201	c.3602C>G	p.Ser1201X	1
15F	1209	c.3625_3628delGAAC	p.Glu1209fs	1
15F	1222	c.3666_3679del14	p.Ser1222fs	1
15F	1230	c.3688C>T	p.Gln1230X	1
15F	1244	c.3730C>T	p.Gln1244X	1
15F	1249	c.3747C>A	p.Cys1249X	1
15F	1250	c.3749_3750delAA	p.Lys1250fs	1
15F	1256	c.3768dupA	p.Glu1257fs	1
15F	1262	c.3786T>A	p.Tyr1262X	1
15F	1267	c.3796_3799dupGATA	p.Thr1267fs	2
15F	1268	c.3803_3815del13	p.Pro1268fs	1
15F	1269	c.3805delA	p.Ile1269fs	1
15F	1269	c.3806dupT	p.Ile1269fs	1
15G	1270	c.3810_3811insC	p.Phe1270fs	1
15G	1272	c.3816_3817ins14	p.Arg1272fs	1
15G	1275	c.3824_3831delGTTCATTA	p.Ser1275fs	1
15G	1278	c.3833C>A	p.Ser1278X	1
15G	1286	c.3856G>T	p.Glu1286X	1
15G	1294	c.3880delC	p.Gln1294fs	1
15G	1298	c.3892_3903del12insATTT	p.Ser1298fs	1
15G	1309	c.3925G>T	p.Glu1309X	2
15G	1309	c.3925-3928delGAAA	p.Glu1309fs	5
15G	1309	c.3927_3931delAAAGA	p.Glu1309fs	56
15G	1321	c.3963delC	p.Ser1321fs	1
15G	1338	c.4012C>T	p.Gln1338X	1
15G	1341	c.4022delG	p.Ser1341fs	1
15G	1341	c.4022_4023ins22	p.Ser1341fs	2
15G	1342	c.4025dupT	p.Leu1342fs	2
15G	1344	c.4031C>G	p.Ser1344X	1
15H	1367	c.4099C>T	p.Gln1367X	2
15H	1376	c.4128delT	p.Tyr1376fs	1
15H	1376	c.4127_4128delAT	p.Tyr1376fs	1
15H	1378	c.4132C>T	p.Gln1378X	1
15H	1381	c.4142dupC	p.His1381fs	1
15H	1400	c.4199C>A	p.Ser1400X	1
15H	1425	c.4273delGA	p.Asp1425fs	1
15H	1426	c.4275dupT	p.Ser1426fs	1
15H	1432	c.4295delC	p.Pro1432fs	1
15H	1444	c.4331C>T	p.Gln1444X	1
15H	1450	c.4348C>T	p.Arg1450X	5
15H	1451	c.4351G>T	p.Glu1451X	1
15H	1455	c.4364_4368delATAAA	p.Asn1455fs	1
15H	1459	c.4377delT	p.Thr1459fs	1
15H	1461	c.4383_4387delAAAGA	p.Lys1461fs	1
15H	1462	c.4385delA	p.Arg1462fs	1
15H	1464	c.4391_4394delAGAG	p.Glu1464fs	3
15H	1465	c.4393_4394delAG	p.Ser1465fs	8
15I	1495	c.4483delA	p.Ser1495fs	1
15I	1496	c.4487dupC	p.Thr1496fs	1
15I	1498	c.4492del G	p.Asp1498fs	1
15I	1516	c.4547_4548delTA	p.p.Ile1516fs	1
15I	1517	c.4549C>G	p.Gln1517X	2
15I	1522	c.4570_4576del7	p.Ile1522fs	1
15I	1531	c.4592dupA	p.Met1531fs	1
15I	1538	c.4612_4613delGA	p.Glu1538fs	2
15I	1541	c.4621C>T	p.Gln1541X	1
15I	1545	c.4634C>G	p.Ser1545X	1
15I	1548	c.4643delA	p.Asn1548fs	1
15I	1551	c.4652_4655delAAGA	p.Lys1551fs	2
15I	1556	c.4666delA	p.Thr1556fs	1
15I	1556	c.4666dupA	p.Thr1556fs	3
15I	1563	c.4688_4703del16	p.Leu1563fs	1
15I	1565	c.4694T>A	p.Leu1565X	1
15I	1567	c.4700C>G	p.Ser1567X	1
15I	1578	c.4733_4734delGT	p.Cys1578fs	1
15I	1581	c.4741dupT	p.Leu1581fs	1
15I	1596	c.4786delC	p.Gln1596fs	4
15I	1600	c.4799_4800dupAA	p.Asn1600fs	1
15J	1628	c.4883delA	p.Lys1628fs	1
15J	1652	c.4954delT	p.Ser1652fs	1
15J	1661	c.4982_4983insTA	p.Thr1661fs	1
15J	1683	c.5047G>T	p.Glu1683X	1
15L	1823	c.5471delA	p.Asn1823fs	1
15N	1958	c.5873delA	p.Asn1958fs	2
15N	1973	c.5917delA	p.Ser1973fs	1
15N	1981	c.5943_5946delTAAA	p.Ile1981fs	1
15M	1983	c.5947_5950delGAAA	p.Glu1983fs	1
15N	1984	c.5952_5955delTGAA	p.Asn1984fs	1
15N	1986	c.5957delC	p.Pro1986fs	1
15N	1993	c.5978delC	p.Pro1993fs	1
15P	2117	c.6351delA	p.Gln2117fs	1
15P	2192	c.6574A>T	p.Lys2192X	1
15T	2557	c.7671_7678delCCTTCCTC	p.Ser2557fs	1

*These missense or silent mutations result in exon splicing [19]

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ISSN: 1897-4287

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