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