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 | Â | 2 |
intron 3 | 141 | c.423-3T>A | Â | 1 |
intron 3 | 141 | c.423-2A>T | Â | 1 |
intron 3 | 141 | c.423-1G>A | Â | 1 |
intron 3 | 141 | c.423-1G>T | Â | 1 |
intron 3 | 141 | c.423-1G>C | Â | 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 | Â | 1 |
intron 4 | 177 | c.531+5G>C | Â | 1 |
intron 4 | 177 | c.531+5_531+8delGTAA | Â | 2 |
intron 4 | 178 | c.532-2A>G | Â | 1 |
intron 4 | 178 | c.532-1G>T | Â | 1 |
5 | 181 | c.540_541insA | Â | 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 | Â | 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 | Â | 1 |
intron 8 | 311 | c.933+1delG | Â | 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 | Â | 3 |
intron 9 | 438 | c.1312+2T>C | Â | 1 |
intron 9 | 438 | c.1312+3A>G; | Â | 2 |
intron 9 | 438 | c.1312+5C>A | Â | 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 | Â | 1 |
intron 10 | 470 | c.1409-2A>C | Â | 1 |
intron 10 | 470 | c.1409-2A>G | Â | 1 |
intron 10 | 470 | c.1409-1G>A | Â | 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 | Â | 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 | Â | 1 |
intron 13 | 582 | c.1744-[5_13del; 17_18del] | Â | 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 | Â | 4 |
intron 14 | 653 | c.1958+1G>A | Â | 1 |
intron 14 | 653 | c.1958+3A>G | Â | 2 |
intron 14 | 653 | c.1959-2A>G | Â | 1 |
15A | 653 | 15A: c.1959delG | Â | 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 |