The UMD-APC mutations database
Large lesions (219 records)

    Request ID: 636946799

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
1_135del	c.1_135del	1		p.Met1?		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5252 SO_133G06597G06597 Causal - 71 5713 7_133IPC0405055E040982 Causal - 7
1_1958del	c.1_1958del	1		p.Met1?		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5722 19_1166511665.00111665.001 Causal - 19 5723 19_1166511665.00311665.003 Causal - 19 5759 19_1166511665.00311665.003 Causal - 19
1_422del	c.1_422del	1		p.Met1?		Causal	unvalidated	00/00/00	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3783 SO_-16331713171 Causal - 71 3842 SO_-16341674167 Causal - 71 4525 SO_-544G01862G01862 Causal - 71 4526 SO_-544G01863G01863 Causal - 71 4530 SO_-163G01875G01875 Causal - 71 4600 SO_-163G02482G02482 Causal - 71 4903 SO_-544G04465G04465 Causal - 71 4904 SO_-544G04466G04466 Causal - 71
1_531del	c.1_531del	1		p.Met1?		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2705 10_APC-047---587P Causal - 10 2706 10_APC-047---548P Causal - 10 2707 10_APC-127---931P Causal - 10
1_834del	c.1_834del	1		p.Met1?		Causal	unvalidated	00/00/00	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3946 7_7973711492E080962 Causal - 7 4538 SO_-2486G01946G01946 Causal - 71 4539 SO_-2486G01947G01947 Causal - 71 5522 7_-2480ILP0510926E050596 Causal - 7 5523 7_-2480ILP0510927E060048 Causal - 7
1_8532del	c.1_8532del	1		p.Met1?		Causal	unvalidated	00/00/00	116
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5839 10_APC-198---3037 P Causal - 10 2409 4_36558---36558 Causal - 4 2410 4_19457---42934 Causal - 4 2411 4_19457---19457 Causal - 4 2412 4_28076---28076 Causal - 4 2413 4_19457---45210 Causal - 4 2427 SO-21------ Causal - 71 2708 10_APC-013---46P Causal - 10 2709 10_APC-013---56P Causal - 10 2710 10_APC-013---62P Causal - 10 2711 10_APC-013---63P Causal - 10 2712 10_APC-013---43P Causal - 10 2713 10_APC-013---47P Causal - 10 2714 10_APC-013---48P Causal - 10 2715 10_APC-013---49P Causal - 10 2716 10_APC-013---50P Causal - 10 2717 10_APC-013---52P Causal - 10 2718 10_APC-013---170P Causal - 10 2719 10_APC-013---171P Causal - 10 2720 10_APC-013---172P Causal - 10 2721 10_APC-013---216P Causal - 10 2722 10_APC-019---117P Causal - 10 2723 10_APC-019---116P Causal - 10 2724 10_APC-055---662P Causal - 10 2725 10_APC-096---1128P Causal - 10 2726 10_APC-096---1186P Causal - 10 2727 10_APC141---1726P Causal - 10 3082 19_12154---12154.001 Causal - 19 3253 33_PSL2009---08-1558 Causal - 33 3254 33_PSL2009---10-1723 Causal - 33 3255 33_PSL1093---07-534 Causal - 33 3256 33_PSL2075---08-1741 Causal - 33 3257 33_PSL821---06-1166 Causal - 33 3512 37_P01.01-E859--- Causal - 37 3513 37_P99.01229--- Causal - 37 3514 37_P99.01829--- Causal - 37 3515 37_P97.011213--- Causal - 37 3516 37_P97.01355--- Causal - 37 3517 37_P99.012678--- Causal - 37 3518 37_P97.011212--- Causal - 37 3519 37_P01.01-E842--- Causal - 37 3541 SO_-4650125125 Causal - 71 3542 SO_-4650140140 Causal - 71 3577 SO_-61279279 Causal - 71 3587 SO_-85356356 Causal - 71 3601 SO_-122444444 Causal - 71 3602 SO_-122445445 Causal - 71 3603 SO_-122448448 Causal - 71 3632 SO_-312772772 Causal - 71 3668 SO_-376908908 Causal - 71 3669 SO_-376909909 Causal - 71 3670 SO_-376911911 Causal - 71 3799 SO_-31235293529 Causal - 71 3805 SO_-8536003600 Causal - 71 3807 SO_-31236163616 Causal - 71 3853 SO_-51745784578 Causal - 71 3854 SO_-51745824582 Causal - 71 3855 SO_-51745844584 Causal - 71 3895 SO_-465075887588 Causal - 71 3896 SO_-465075977597 Causal - 71 3897 SO_-465076017601 Causal - 71 3903 SO_-465076737673 Causal - 71 4014 7_-1795905283E092227 Causal - 7 4073 7_120251011334E101323 Causal - 7 4120 SO_-1469G00004G00004 Causal - 71 4122 SO_-1456G00021G00021 Causal - 71 4150 SO_-1698G00152G00152 Causal - 71 4154 SO_-1695G00161G00161 Causal - 71 4214 SO_-1456G00426G00426 Causal - 71 4216 SO_-1456G00431G00431 Causal - 71 4219 SO_-1795G00477G00477 Causal - 71 4220 SO_-1795G00478G00478 Causal - 71 4221 SO_-1456G00479G00479 Causal - 71 4222 SO_-1456G00480G00480 Causal - 71 4223 SO_-1456G00484G00484 Causal - 71 4224 SO_-1456G00485G00485 Causal - 71 4231 SO_-1456G00539G00539 Causal - 71 4236 SO_-1244G00549G00549 Causal - 71 4255 SO_-1456G00600G00600 Causal - 71 4318 SO_-855G00984G00984 Causal - 71 4332 SO_-787G01047G01047 Causal - 71 4333 SO_-787G01048G01048 Causal - 71 4416 SO_-787G01382G01382 Causal - 71 4419 SO_-154G01396G01396 Causal - 71 4439 SO_-154G01576G01576 Causal - 71 4459 SO_-465G01603G01603 Causal - 71 4465 SO_-497G01619G01619 Causal - 71 4468 SO_-517G01628G01628 Causal - 71 4522 SO_-154G01859G01859 Causal - 71 4523 SO_-154G01860G01860 Causal - 71 4536 SO_-1456G01934G01934 Causal - 71 4726 SO_-3168G03339G03339 Causal - 71 4873 SO_-497G04279G04279 Causal - 71 5724 10_APC-47---2349 P Causal - 10 5039 SO_-3671G05016G05016 Causal - 71 5057 SO_-279G05269G05269 Causal - 71 5166 SO_-312G05675G05675 Causal - 71 5170 SO_-4650G05690G05690 Causal - 71 5174 SO_-61G05700G05700 Causal - 71 5179 SO_-162G05711G05711 Causal - 71 5194 SO_-4650G05828G05828 Causal - 71 5223 SO_-4182G06209G06209 Causal - 71 5297 SO_-4650G07046G07046 Causal - 71 5344 SO_-4650G07601G07601 Causal - 71 5388 SO_-787G08067G08067 Causal - 71 5397 SO_-4650G08152G08152 Causal - 71 5398 SO_-4650G08153G08153 Causal - 71 5476 SO_-279GB6180GB6180 Causal - 71 5536 7_-1795ILP0511410E050888 Causal - 7 5537 7_-1795ILP0511411E050889 Causal - 7 5542 7_-1795ILP0511542E050991 Causal - 7 5582 7_-517ILP0513178E060044 Causal - 7 5669 7_-1848ILP0710439E070719 Causal - 7 5701 7_-517ILP0711658E072061 Causal - 7 5721 37_P12.2120734133184/133185 Causal - 37 5758 10_APC-167---2230 P Causal - 10
423_531del	c.423_531del	3-4		p.Arg141SerfsX8		Causal	unvalidated	00/00/00	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2150 4_40314---40314 Causal - 4 2151 4_40314---17540 Causal - 4 3274 37_F06.054471948544 Causal - 37 3275 37_F06.054888568599 Causal - 37 3276 37_F06.0547257--- Causal - 37 3277 37_F06.0547107--- Causal - 37 3278 37_P11.02516620127457 Causal - 37 3279 37_P11.02520626133018 Causal - 37
532_834del	c.532_834del	5		p.Phe178_Gln278del		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5749 37_P13.20-E23262143382 Causal - 37
532_8532del	c.532_8532del	5		p.Phe178fsX8		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2862 19_13113---13113.002 Causal - 19
646_8532del	c.646_8532del	6		p.Arg216fsX2		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2861 19_10671---10671.001 Causal - 19 5498 7_-5859ILP0412293E050109 Causal - 7
532_729dup	c.532_729dup	7		p.Phe178_Glu243dup		UV	French MMR network	27/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5804 37_P13.20-E23262 UV - 37
730_834del	c.730_834del	7		p.Arg244_Gln278del		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4070 7_113631011083E102031 Causal - 7
835_1312del	c.835_1312del	8		p.Gly279CysfsX16		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5756 19_717---717.001 Causal - 19
835_8532del	c.835_8532del	8		p.Gly279fsX43		Causal	unvalidated	00/00/00	13
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2857 19_11526---11526.001 Causal - 19 2858 19_11526---11526.002 Causal - 19 2859 19_11526---11526.003 Causal - 19 2860 19_15020---15020.001 Causal - 19 4152 SO_-1693G00156G00156 Causal - 71 4729 SO_-3158G03350G03350 Causal - 71 5183 SO_-352G05728G05728 Causal - 71 5327 SO_-4784G07388G07388 Causal - 71 5340 SO_-3158G07559G07559 Causal - 71 5470 SO_-352G09027G09027 Causal - 71 5486 7_-3158ILP0411749E041219 Causal - 7 5609 7_-6331ILP0611243E071827 Causal - 7 5610 7_-6331ILP0611244E061043 Causal - 7
934_1408del	c.934_1408del	9		p.Val312GlyfsX28		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5805 37_P02.01-E25363151723 Causal - 37 5806 37_P02.01-E26278154879 Causal - 37
934_8532del	c.934_8532del	9		p.Val312fsX17		Causal	unvalidated	00/00/00	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5760 19_25979---25979.001 Causal - 19 2549 10_APC-078---908P Causal - 10 2550 10_APC-078---1140P Causal - 10 2855 19_19201---19201.001 Causal - 19 2856 19_19201---19201.002 Causal - 19 3169 33_PSL322---06-1106 Causal - 33 3170 33_PSL322---05-616 Causal - 33 3389 37_P02.011100--- Causal - 37 3390 37_P02.011100--- Causal - 37 3391 37_P02.01825574918 Causal - 37
1313_1408del	c.1313_1408del	9-10		p.Met438_Gly470delinsArg		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4735 SO_-3173G03392G03392 Causal - 71 5664 7_-3173ILP0710390E070900 Causal - 7 5702 7_-3173ILP0711663E072047 Causal - 7
1409_1548del	c.1409_1548del	10-11		p.Gly471TyrfsX19	ASEF binding domain ARM1	Causal	unvalidated	00/00/00	13
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3722 SO_-1316881688 Causal - 71 3984 7_6126811364E081332 Causal - 7 4012 7_6126813207E090184 Causal - 7 4103 7_-36291110342E110313 Causal - 7 4517 SO_-13G01847G01847 Causal - 71 4518 SO_-13G01850G01850 Causal - 71 4519 SO_-13G01851G01851 Causal - 71 4520 SO_-13G01852G01852 Causal - 71 4521 SO_-13G01853G01853 Causal - 71 5290 SO_-4659G06990G06990 Causal - 71 5618 7_-3629ILP0611378E061258 Causal - 7 5643 7_-6478ILP0612044E070292 Causal - 7 5661 7_-3629ILP0710327--- Causal - 7
1409_1743del	c.1409_1743del	10-11		p.Gly471IlefsX19	ASEF binding domain ARM1	Causal	unvalidated	00/00/00	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2800 19_10996---10996-008 Causal - 19 2801 19_10996---10966.001 Causal - 19 2802 19_10996---10966.003 Causal - 19 2803 19_10996---10966.004 Causal - 19 2804 19_20272---20272.001 Causal - 19 5255 SO_-4471G06628G06628 Causal - 71 5494 7_-4471ILP0411995E050087 Causal - 7 5504 7_-5888ILP0510244E050274 Causal - 7
1409_8532del	c.1409_8532del	10-11		p.Gly470fsX14	ASEF binding domain ARM1	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2548 10_APC-157---2080P Causal - 10
1744ins2760 ?	c.1744ins2760 ?	14		p.582_581dup	ASEF binding domain ARM3	Causal	French MMR network	4/03/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2588 10_APC-110---1388P Causal - 10
1744_1958del	c.1744_1958del	14		p.Glu582AlafsX20	ASEF binding domain ARM3	Causal	unvalidated	00/00/00	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2174 4_39740---39740 Causal - 4 2175 4_4010---3043 Causal - 4 2176 4_4010---4010 Causal - 4 3124 33_PSL506---06-348 Causal - 33 3293 37_P04.122624--- Causal - 37
1744_8532del	c.1744_8532del	14		p.Glu582fsX10	ASEF binding domain ARM3	Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3168 33_PSL2664---09-1195 Causal - 33 3388 37_P09.281007985244/88880 Causal - 37
1959_8532del	c.1959_8532del	14-15		p.Arg653fsX7	ASEF binding domain ARM5	Causal	unvalidated	00/00/00	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3590 SO_-90366366 Causal - 71 3591 SO_-90367367 Causal - 71 4052 7_-2413912287E100005 Causal - 7 4489 SO_-583G01691G01691 Causal - 71 4497 SO_-2413G01727G01727 Causal - 71 5665 7_-2413ILP0710408E070847 Causal - 7 5703 7_-2413ILP0711713E072128 Causal - 7
3799dup	c.3799dup	15		p.Thr1267AsnfsX9	Beta-catenin degradation domai	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5740 19_23920---23920.001 Causal - 19
4668dup	c.4668dup	15		p.Ile1557TyrfsX2		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5849 10_APC-206---3234 P Causal - 10