The UMD-APC mutations database
Point mutations (1449 records)

    Request ID: 636963793

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
148C>T	c.148C>T	2		p.Gln50X	Dimerization domain	Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2322 4_39769---40249 Causal - 4 2323 4_39769---39769 Causal - 4
250G>T	c.250G>T	3		p.Gly84X		Causal	unvalidated	00/00/00	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4045 7_10997911915E101271 Causal - 7 5420 SO_-5458G08428G08428 Causal - 71 5421 SO_-5458G08429G08429 Causal - 71 5573 7_-5458ILP0512905E051598 Causal - 7 5574 7_-5458ILP0512906E051597 Causal - 7 5575 7_-5458ILP0512907E051596 Causal - 7 5693 7_-5458ILP0711228E071590 Causal - 7
268A>T	c.268A>T	3		p.Lys90X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5797 10_APC-117---3501 P Causal - 10 5841 10_APC-117---3094 P Causal - 10 2615 10_APC-117---1590P Causal - 10
288T>A	c.288T>A	3		p.Tyr96X		Causal	unvalidated	00/00/00	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2328 4_38954---38954 Causal - 4 2965 19_13840---13840.001 Causal - 19 2966 19_13840---13840.002 Causal - 19 2967 19_13840---13840.004 Causal - 19 3210 33_STL861---10-1242 Causal - 33 4049 7_11156912191E101512 Causal - 7
288T>G	c.288T>G	3		p.Tyr96X		Causal	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4188 SO_-1115G00307G00307 Causal - 71 4609 SO_-1115G02592G02592 Causal - 71 5000 SO_-1115G04855G04855 Causal - 71 5198 SO_-1115G05894G05894 Causal - 71
295C>T	c.295C>T	3		p.Arg99Trp		UV	unvalidated	00/00/00	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4235 SO_-1303G00547G00547 UV - 71 4355 SO_-1303G01158G01158 UV - 71 4633 SO_-2833G02677G02677 UV - 71 4648 SO_-2833G02786G02786 UV - 71 5049 SO_-1303G05168G05168 UV - 71 5521 7_-1303ILP0510837E050738 UV - 7
301G>T	c.301G>T	3		p.Gly101X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3491 37_L06.44446846194 Causal - 37
311C>G	c.311C>G	3		p.Ser104X		Causal	unvalidated	00/00/00	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5791 10_APC-216---3437 P Causal - 10 5842 10_APC-181---3100 P Causal - 10 5843 10_APC-181---3102 P Causal - 10 2678 10_APC-181---2631P Causal - 10 2993 19_13159---13159.001 Causal - 19 2994 19_13159---13159.002 Causal - 19 3230 33_SAT364---08-1482 Causal - 33 3231 33_SAT139---08-1175 Causal - 33 3232 33_SAT00139---07-102 Causal - 33
311C>T	c.311C>T	3		p.Ser104Leu		UV	French MMR network	25/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4039 7_10478911034E091193 UV - 7
358A>T	c.358A>T	3		p.Arg120X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3967 7_8562810500E090789 Causal - 7
361A>T	c.361A>T	3		p.Arg121X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5171 SO_-117G05694G05694 Causal - 71
399T>G	c.399T>G	3		p.Tyr133X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4398 SO_-152G01312G01312 Causal - 71
423G>T	c.423G>T	3-4		p.Arg141Ser		Causal	unvalidated	00/00/00	20
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5793 10_APC-35---3506 P Causal - 10 2145 4_36819---36819 Causal - 4 2434 10_APC-035---374P Causal - 10 2435 10_APC-035---373P Causal - 10 2436 10_APC-035---742P Causal - 10 2437 10_APC-035---625P Causal - 10 2438 10_APC-035---992P Causal - 10 2439 10_APC-035---1768P Causal - 10 2440 10_APC-035---399P Causal - 10 2441 10_APC-116---1569P Causal - 10 2742 19_21764---21764-001 Causal - 19 2743 19_11977---11977.001 Causal - 19 3266 37_P07.01-E9737--- Causal - 37 3267 37_P07.01-E5668--- Causal - 37 3268 37_P07.01-E13241101390 Causal - 37 3269 37_P07.01-E5528--- Causal - 37 3270 37_P07.01-E16204121294 Causal - 37 4064 7_115951010594E100679 Causal - 7 5500 7_-580ILP0510041E050107 Causal - 7 5549 7_-580ILP0511893E051358 Causal - 7
449A>T	c.449A>T	4		p.Lys150Ile		UV	French MMR network	25/02/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2744 19_13980---13980.001 UV - 19 5253 SO_-4478G06607G06607 UV - 71
450A>G	c.450A>G	4		p.Lys150Lys		Likely Neutral	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2429 10_--------- Likely Neutral - 10 5107 SO_-3868G05398G05398 Likely Neutral - 71
457A>C	c.457A>C	4		p.Lys153Gln		Likely Neutral	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3108 33_PSL2181---08--1948 Likely Neutral - 33
470G>A	c.470G>A	4		p.Trp157X		Causal	unvalidated	00/00/00	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2349 4_21015---21015 Causal - 4 4819 SO_-139G04077G04077 Causal - 71 4820 SO_-139G04080G04080 Causal - 71 4821 SO_-139G04081G04081 Causal - 71 5061 SO_-139G05278G05278 Causal - 71
471G>A	c.471G>A	4		p.Trp157X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3000 19_8024---8024.001 Causal - 19 5431 SO_-5536G08608G08608 Causal - 71
474T>G	c.474T>G	4		p.Tyr158X		Causal	unvalidated	00/00/00	12
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2640 10_APC-003---883G Causal - 10 2641 10_APC-003---884G Causal - 10 2642 10_APC-003---885G Causal - 10 2643 10_APC-107---1343P Causal - 10 3876 SO_-96455825582 Causal - 71 3930 SO_-96492999299 Causal - 71 3931 SO_-96493059305 Causal - 71 4187 SO_-964G00305G00305 Causal - 71 4193 SO_-964G00342G00342 Causal - 71 4290 SO_-964G00795G00795 Causal - 71 4976 SO_-964G04815G04815 Causal - 71 5195 SO_-964G05885G05885 Causal - 71
477C>T	c.477C>T	4		p.Tyr159Tyr		UV	French MMR network	25/02/15	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2351 4_26034---27006 UV - 4 2352 4_26034---28988 UV - 4 2353 4_26034---26034 UV - 4 2354 4_26034---27521 UV - 4 2355 4_26034---27522 UV - 4
481C>T	c.481C>T	4		p.Gln161X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2627 10_APC-059---713P Causal - 10
502A>T	c.502A>T	4		p.Arg168X		Causal	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3238 33_SAT543---10-377 Causal - 33 3627 SO_-304753753 Causal - 71 3628 SO_-304757757 Causal - 71 4413 SO_-304G01367G01367 Causal - 71
562C>T	c.562C>T	5		p.Gln188X		Causal	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2332 4_27579---27579 Causal - 4 2333 4_27579---26904 Causal - 4 4026 7_-6475910355E090484 Causal - 7 5642 7_-6475ILP0612041E070291 Causal - 7
568G>T	c.568G>T	5		p.Glu190X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2334 4_33685---33685 Causal - 4 2335 4_33685---37964 Causal - 4
573T>G	c.573T>G	5		p.Tyr191X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2644 10_APC-105---1314P Causal - 10
607C>G	c.607C>G	5		p.Gln203Glu		UV	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5807 19_7899---7899.001 UV - 19 2552 10_APC-093---1059P UV - 10 2866 19_18991---18991.001 UV - 19 2867 19_18991---18991.001 UV - 19
622C>T	c.622C>T	5		p.Gln208X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2350 4_41691---41691 Causal - 4 5668 7_-6584ILP0710417E070720 Causal - 7
637C>T	c.637C>T	5		p.Arg213X		Causal	unvalidated	00/00/00	83
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5835 19_2418824188-00124188-001 Causal - 19 5848 10_APC-205---3147 P Causal - 10 5854 10_APC-210---3358 P Causal - 10 2377 4_1215---848 Causal - 4 2378 4_4944---21253 Causal - 4 2379 4_1215---2276 Causal - 4 2380 4_4944---6393 Causal - 4 2381 4_1215---853 Causal - 4 2382 4_41344---41344 Causal - 4 2383 4_1215---29113 Causal - 4 2384 4_4944---45027 Causal - 4 2385 4_1215---1217 Causal - 4 2386 4_1215---4800 Causal - 4 2387 4_1215---2706 Causal - 4 2388 4_1215---1215 Causal - 4 2389 4_4944---4944 Causal - 4 2685 10_APC-131---803P Causal - 10 2686 10_APC-156---2067P Causal - 10 3001 19_6660---6660.001 Causal - 19 3002 19_6660---6660.004 Causal - 19 3003 19_6660---6660.005 Causal - 19 3004 19_6660---6660.006 Causal - 19 3005 19_6660---6660.007 Causal - 19 3006 19_12475---12475.001 Causal - 19 3007 19_12475---12475.002 Causal - 19 3008 19_12475---12475.008 Causal - 19 3009 19_12475---12475.009 Causal - 19 3010 19_13182---13182.001 Causal - 19 3011 19_13182---13182.003 Causal - 19 3012 19_13182---13182.004 Causal - 19 3013 19_15102---15102.001 Causal - 19 3239 33_PSL491---06-299 Causal - 33 3240 33_PSL1813---08-1039 Causal - 33 3241 33_SAT254---07-1207 Causal - 33 3493 37_F06.0692918--- Causal - 37 3494 37_P03.041814--- Causal - 37 3495 37_P09.08876177655 Causal - 37 3580 SO_-75314314 Causal - 71 3885 SO_-8673677367 Causal - 71 3924 SO_-113084908490 Causal - 71 3968 7_-3362810534E080958 Causal - 7 4287 SO_-1130G00751G00751 Causal - 71 4308 SO_-2120G00905G00905 Causal - 71 4309 SO_-2120G00906G00906 Causal - 71 4317 SO_-86G00927G00927 Causal - 71 4358 SO_-86G01171G01171 Causal - 71 4359 SO_-86G01172G01172 Causal - 71 4360 SO_-86G01173G01173 Causal - 71 4411 SO_-86G01353G01353 Causal - 71 4428 SO_-1088G01418G01418 Causal - 71 4458 SO_-462G01602G01602 Causal - 71 4469 SO_-519G01629G01629 Causal - 71 4484 SO_-566G01653G01653 Causal - 71 4487 SO_-577G01656G01656 Causal - 71 4556 SO_-82G02109G02109 Causal - 71 4567 SO_-1088G02169G02169 Causal - 71 4638 SO_-2825G02686G02686 Causal - 71 4768 SO_-3362G03669G03669 Causal - 71 4795 SO_-2825G03877G03877 Causal - 71 4868 SO_-462G04257G04257 Causal - 71 4886 SO_-577G04363G04363 Causal - 71 4887 SO_-577G04375G04375 Causal - 71 4929 SO_-850G04558G04558 Causal - 71 4930 SO_-850G04560G04560 Causal - 71 5010 SO_-1088G04866G04866 Causal - 71 5024 SO_-1222G04917G04917 Causal - 71 5080 SO_-625G05318G05318 Causal - 71 5094 SO_-850G05338G05338 Causal - 71 5096 SO_-667G05340G05340 Causal - 71 5115 SO_-2825G05508G05508 Causal - 71 5155 SO_-86G05655G05655 Causal - 71 5220 SO_-4183G06206G06206 Causal - 71 5271 SO_-4530G06806G06806 Causal - 71 5278 SO_-82G06899G06899 Causal - 71 5334 SO_-4966G07486G07486 Causal - 71 5375 SO_-5166G07868G07868 Causal - 71 5477 7_-5747H677649E040673 Causal - 7 5520 7_-5967ILP0510822E050595 Causal - 7 5527 7_-850ILP0510960E050739 Causal - 7 5531 7_-1088ILP0511127E050783 Causal - 7 5580 7_-6167ILP0513097E060042 Causal - 7 5614 7_-6345ILP0611338E061249 Causal - 7 5673 7_-6598ILP0710486E070816 Causal - 7
638G>A	c.638G>A	5		p.Arg213Gln		Likely Neutral	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2753 19_21781---21781-001 Likely Neutral - 19
646C>T	c.646C>T	6		p.Arg216X		Causal	unvalidated	00/00/00	40
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2390 4_35713---35713 Causal - 4 2391 4_31349---31349 Causal - 4 2392 4_35827---35827 Causal - 4 2393 4_8698---24959 Causal - 4 2394 4_8698---43661 Causal - 4 2395 4_8698---8698 Causal - 4 2687 10_APC-004---137G Causal - 10 2688 10_APC-004---27P Causal - 10 3014 19_13602---13602.001 Causal - 19 3242 33_SAT403---09-0155 Causal - 33 3243 33_SAT403---09-0156 Causal - 33 3856 SO_-53846404640 Causal - 71 3882 SO_-103961316131 Causal - 71 3911 SO_-53878737873 Causal - 71 3917 SO_-16979537953 Causal - 71 4008 7_9794813023E091212 Causal - 7 4066 7_-5381010657E102172 Causal - 7 4092 7_-5381012484E102174 Causal - 7 4183 SO_-1039G00280G00280 Causal - 71 4213 SO_-1789G00424G00424 Causal - 71 4302 SO_-2091G00870G00870 Causal - 71 4347 SO_-2242G01127G01127 Causal - 71 4478 SO_-538G01641G01641 Causal - 71 4513 SO_-590G01813G01813 Causal - 71 4568 SO_-2091G02185G02185 Causal - 71 4586 SO_-590G02374G02374 Causal - 71 4707 SO_-590G03204G03204 Causal - 71 4747 SO_-3232G03512G03512 Causal - 71 4748 SO_-3232G03516G03516 Causal - 71 4826 SO_-169G04117G04117 Causal - 71 4905 SO_-674G04467G04467 Causal - 71 4906 SO_-674G04468G04468 Causal - 71 4952 SO_-1226G04670G04670 Causal - 71 4964 SO_-1039G04785G04785 Causal - 71 5055 SO_-2091G05249G05249 Causal - 71 5058 SO_-169G05270G05270 Causal - 71 5097 SO_-674G05342G05342 Causal - 71 5192 SO_2502G05806G05806 Causal - 71 5433 SO_-5559G08644G08644 Causal - 71 5571 7_-6170ILP0512711E051521 Causal - 7
667C>T	c.667C>T	6		p.Gln223X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2970 19_23086---23086-001 Causal - 19 3453 37_P04.012155--- Causal - 37 4632 SO_-2824G02676G02676 Causal - 71
688C>T	c.688C>T	6		p.Arg230Cys		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2700 10_APC-083---980P UV - 10
694C>T	c.694C>T	6		p.Arg232X		Causal	unvalidated	00/00/00	46
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2398 4_21725---21725 Causal - 4 2399 4_41928---41928 Causal - 4 2400 4_29214---29214 Causal - 4 2689 10_APC-122---1707P Causal - 10 2690 10_APC-149---1882P Causal - 10 3015 19_22484---22484-001 Causal - 19 3244 33_PSL1784---08-943 Causal - 33 3245 33_PSL406---06-103 Causal - 33 4020 7_-963910169E090302 Causal - 7 4110 7_-963---ILP0711732 Causal - 7 4111 7_-5812E040824E040824 Causal - 7 4112 7_-5812E040825E040825 Causal - 7 4182 SO_-1049G00279G00279 Causal - 71 4264 SO_-1192G00642G00642 Causal - 71 4320 SO_-2169G01002G01002 Causal - 71 4323 SO_-1049G01013G01013 Causal - 71 4364 SO_-2271G01193G01193 Causal - 71 4423 SO_-2271G01409G01409 Causal - 71 4507 SO_-604G01756G01756 Causal - 71 4508 SO_-604G01757G01757 Causal - 71 4510 SO_-604G01788G01788 Causal - 71 4582 SO_-2664G02324G02324 Causal - 71 4583 SO_-2664G02328G02328 Causal - 71 4588 SO_-2271G02394G02394 Causal - 71 4589 SO_-2271G02395G02395 Causal - 71 4643 SO_-2271G02745G02745 Causal - 71 4644 SO_-2271G02746G02746 Causal - 71 4890 SO_-604G04392G04392 Causal - 71 4891 SO_-604G04393G04393 Causal - 71 4902 SO_-604G04447G04447 Causal - 71 4939 SO_-963G04619G04619 Causal - 71 4959 SO_-963G04780G04780 Causal - 71 4968 SO_-1049G04801G04801 Causal - 71 5031 SO_-1192G04932G04932 Causal - 71 5085 SO_-604G05327G05327 Causal - 71 5173 SO_-231G05696G05696 Causal - 71 5287 SO_-2169G06963G06963 Causal - 71 5310 SO_-2169G07160G07160 Causal - 71 5316 SO_-4915G07219G07219 Causal - 71 5499 7_-4915ILP0510002E050069 Causal - 7 5546 7_-6047ILP0511745E051284 Causal - 7 5562 7_-6089ILP0512221E051235 Causal - 7 5590 7_-4915ILP0610676E060558 Causal - 7 5670 7_-6586ILP0710440E070718 Causal - 7 5672 7_-4915ILP0710471E070683 Causal - 7 5715 SO_-3622KS0462KS0462 Causal - 71
704T>A	c.704T>A	6		p.Leu235X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4932 SO_-885G04581G04581 Causal - 71 5101 SO_-885G05354G05354 Causal - 71
705A>G	c.705A>G	6		p.Leu235Leu		Neutral	unvalidated	00/00/00	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5765 37_P13.3624419147877 Neutral - 37 3072 19_10911---10911.001 Neutral - 19 3073 19_14990---14990.001 Neutral - 19 3074 19_17707---17707.001 Neutral - 19 3248 33_PSL1916---08-1289 Neutral - 33 3509 37_P10.02811764103699 Neutral - 37
712C>T	c.712C>T	6		p.Gln238X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3214 33_PSL1070---08-782 Causal - 33 3215 33_PSL1070---07-490 Causal - 33 4977 SO_-968G04817G04817 Causal - 71
778C>T	c.778C>T	7		p.Gln260X		Causal	unvalidated	00/00/00	26
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3222 33_SAT0287---08-203 Causal - 33 3520 SO_-111 Causal - 71 3521 SO_-11111 Causal - 71 3522 SO_-11414 Causal - 71 3523 SO_-12020 Causal - 71 3524 SO_-12424 Causal - 71 3525 SO_-12727 Causal - 71 3526 SO_-13434 Causal - 71 3527 SO_-13939 Causal - 71 3528 SO_-14242 Causal - 71 3529 SO_-14747 Causal - 71 3530 SO_-15151 Causal - 71 3531 SO_-15252 Causal - 71 3532 SO_-15454 Causal - 71 3533 SO_-15555 Causal - 71 3534 SO_-15757 Causal - 71 3884 SO_-170957095 Causal - 71 3886 SO_-173917391 Causal - 71 3887 SO_-174067406 Causal - 71 4109 71_-1------ Causal - 71 4357 SO_-2263G01170G01170 Causal - 71 4410 SO_-2263G01351G01351 Causal - 71 4561 SO_-2263G02130G02130 Causal - 71 4703 SO_-3066G03161G03161 Causal - 71 5543 7_-2263ILP0511647E051008 Causal - 7 5708 7_-3066ILP0711964--- Causal - 7
832C>T	c.832C>T	7		p.Gln278X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5626 7_-6393ILP0611630E070009 Causal - 7
839C>A	c.839C>A	8		p.Ser280X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3535 SO_-38383 Causal - 71 3892 SO_-374227422 Causal - 71 3893 SO_-374247424 Causal - 71
839C>G	c.839C>G	8		p.Ser280X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2401 4_33149---33149 Causal - 4
847C>T	c.847C>T	8		p.Arg283X		Causal	unvalidated	00/00/00	35
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5857 10_APC-175---3414 P Causal - 10 2691 10_APC-002---100G Causal - 10 2692 10_APC-128---146P Causal - 10 2693 10_APC-128---144P Causal - 10 2694 10_APC-175---2503P Causal - 10 3016 19_1523---1523.001 Causal - 19 3017 19_1523---1523.003 Causal - 19 3018 19_1523---1523.005 Causal - 19 3019 19_1523---1523.006 Causal - 19 3496 37_P02.03-E1218--- Causal - 37 3497 37_P05.04-E3369--- Causal - 37 3498 37_P02.03-E1973--- Causal - 37 3499 37_P05.04-E3370--- Causal - 37 3671 SO_-378918918 Causal - 71 3672 SO_-378920920 Causal - 71 3794 SO_-37833043304 Causal - 71 4304 SO_-2141G00883G00883 Causal - 71 4305 SO_-2141G00884G00884 Causal - 71 4306 SO_-2141G00885G00885 Causal - 71 4349 SO_-477G01133G01133 Causal - 71 4350 SO_-477G01136G01136 Causal - 71 4351 SO_-477G01137G01137 Causal - 71 4462 SO_-477G01610G01610 Causal - 71 4529 SO_-1194G01874G01874 Causal - 71 4652 SO_-1194G02807G02807 Causal - 71 4719 SO_-3137G03301G03301 Causal - 71 4756 SO_-1194G03579G03579 Causal - 71 4757 SO_-1194G03580G03580 Causal - 71 4869 SO_-477G04259G04259 Causal - 71 5035 SO_-1194G04993G04993 Causal - 71 5059 SO_-357G05271G05271 Causal - 71 5100 SO_-877G05353G05353 Causal - 71 5142 SO_-477G05622G05622 Causal - 71 5211 SO_-2141G06026G06026 Causal - 71 5560 7_-6088ILP0512219E051234 Causal - 7
848G>A	c.848G>A	8		p.Arg283Gln		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3104 33_PSL2114---08-1820, UV - 33
904C>T	c.904C>T	8		p.Arg302X		Causal	unvalidated	00/00/00	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5787 37_P14.27E27593159406 Causal - 37 3020 19_17992---17992.001 Causal - 19 3021 19_17992---17992.002 Causal - 19 3022 19_17992---17992.004 Causal - 19 3023 19_17992---17992.006 Causal - 19 4061 7_114651010311E100502 Causal - 7 5381 SO_-5200G07932G07932 Causal - 71
922C>G	c.922C>G	8		p.Leu308Val		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2558 10_APC-074---860P UV - 10
933G>C	c.933G>C	8		p.Lys311Asn		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4621 SO_-2800G02643G02643 UV - 71
994C>T	c.994C>T	9		p.Arg332X		Causal	unvalidated	00/00/00	82
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5808 19_6350---6350-012 Causal - 19 5837 10_APC-199---3010 P Causal - 10 2402 4_35833---37276 Causal - 4 2403 4_35833---35833 Causal - 4 2404 4_3438---36314 Causal - 4 2405 4_3438---3438 Causal - 4 2695 10_APC-048---553P Causal - 10 2696 10_APC-048---1276P Causal - 10 2697 10_APC-048---1277P Causal - 10 3024 19_2175---2175.001 Causal - 19 3025 19_2175---2175.002 Causal - 19 3026 19_2175---2175.003 Causal - 19 3027 19_2175---2175.004 Causal - 19 3028 19_2175---2175.005 Causal - 19 3029 19_2175---2175.009 Causal - 19 3030 19_2175---2175.012 Causal - 19 3031 19_2175---2175.013 Causal - 19 3032 19_2175---2175.015 Causal - 19 3033 19_2175---2175.017 Causal - 19 3034 19_3013---3013.001 Causal - 19 3035 19_3013---3013.003 Causal - 19 3036 19_3021---3021.001 Causal - 19 3037 19_3021---3021.002 Causal - 19 3038 19_3725---3725.001 Causal - 19 3039 19_3725---3725.003 Causal - 19 3040 19_3725---3725.006 Causal - 19 3041 19_3725---3725.008 Causal - 19 3042 19_3725---3725.009 Causal - 19 3043 19_3725---3725.010 Causal - 19 3044 19_3770---3770.001 Causal - 19 3045 19_3770---3770.009 Causal - 19 3046 19_3770---3770.012 Causal - 19 3047 19_3770---3770.013 Causal - 19 3048 19_3770---3770.015 Causal - 19 3049 19_3770---3770.020 Causal - 19 3050 19_3770---3770.022 Causal - 19 3051 19_3770---3770.023 Causal - 19 3052 19_4260---4260.003 Causal - 19 3053 19_6350---6350.001 Causal - 19 3054 19_6350---6350.002 Causal - 19 3055 19_6350---6350.003 Causal - 19 3056 19_6350---6350.005 Causal - 19 3057 19_11199---11199.001 Causal - 19 3058 19_11199---11199.002 Causal - 19 3059 19_11199---11199.005 Causal - 19 3060 19_14056---14056.001 Causal - 19 3061 19_14056---14056.002 Causal - 19 3062 19_14056---14056.003 Causal - 19 3063 19_15527---15527.001 Causal - 19 3064 19_15527---15527.002 Causal - 19 3500 37_P05.03-E3225--- Causal - 37 3501 37_P05.03-E2899--- Causal - 37 3502 37_P08.28-E1165094978/958 Causal - 37 3503 37_P08.28-E1164994969/958 Causal - 37 4004 7_8719812889G07360 Causal - 7 4005 7_8719812890G07362 Causal - 7 4173 SO_-1743G00241G00241 Causal - 71 4174 SO_-1743G00242G00242 Causal - 71 4175 SO_-1743G00243G00243 Causal - 71 4184 SO_-1071G00291G00291 Causal - 71 4185 SO_-1071G00294G00294 Causal - 71 4192 SO_-1071G00316G00316 Causal - 71 4210 SO_-1787G00420G00420 Causal - 71 4211 SO_-1787G00421G00421 Causal - 71 4238 SO_-1336G00555G00555 Causal - 71 4380 SO_-1336G01240G01240 Causal - 71 4381 SO_-1336G01241G01241 Causal - 71 4383 SO_-1336G01247G01247 Causal - 71 4384 SO_-1336G01251G01251 Causal - 71 4471 SO_-527G01633G01633 Causal - 71 4649 SO_-2392G02802G02802 Causal - 71 4678 SO_-3006G03008G03008 Causal - 71 4714 SO_-3128G03281G03281 Causal - 71 4745 SO_-3223G03467G03467 Causal - 71 4772 SO_-3393G03727G03727 Causal - 71 5012 SO_-1071G04869G04869 Causal - 71 5229 SO_-3223G06266G06266 Causal - 71 5392 SO_-1743G08102G08102 Causal - 71 5417 SO_-5422G08391G08391 Causal - 71 5419 SO_-95G08426G08426 Causal - 71 5442 SO_-5422G08762G08762 Causal - 71 5717 SO_-3223KS0512KS0512 Causal - 71
1072C>T	c.1072C>T	9		p.Gln358X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4087 7_124741011988E101881 Causal - 7
1121G>A	c.1121G>A	9		p.Arg374Gln		Neutral	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2756 19_4821---4821.002 Neutral - 19 2757 19_4821---4821.003 Neutral - 19
1139G>A	c.1139G>A	9		p.Arg380Gln		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2444 10_------2065P UV - 10
1175A>T	c.1175A>T	9		p.His392Leu		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4168 SO_-1734G00215G00215 UV - 71
1192A>T	c.1192A>T	9		p.Lys398X		Causal	unvalidated	00/00/00	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2336 4_37313---37313 Causal - 4 3454 37_P07.12-E6122--- Causal - 37 3455 37_P07.12-E20217131285 Causal - 37 3456 37_P09.033-E1020786020 Causal - 37 5725 37_P07.12-E21339135525 Causal - 37
1213C>T	c.1213C>T	9		p.Arg405X		Causal	unvalidated	00/00/00	22
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5809 19_29910---29910-001 Causal - 19 2357 4_36453---36453 Causal - 4 2646 10_APC-126---1594P Causal - 10 2647 10_APC-126---2061P Causal - 10 2648 10_APC-126---2062P Causal - 10 2649 10_APC-126---2176P Causal - 10 2650 10_APC-171---2265P Causal - 10 2986 19_23741---23741-001 Causal - 19 3224 33_PSL2676---09-1230 Causal - 33 3225 33_PSL2566---09-895 Causal - 33 3944 7_7235710487E070804 Causal - 7 3950 7_8282711933E082291 Causal - 7 4043 7_7235911640E091919 Causal - 7 4046 7_7235912069E092326 Causal - 7 4063 7_72351010564E100604 Causal - 7 4082 7_72351011773E101635 Causal - 7 4105 7_72351110523E110483 Causal - 7 4106 7_72351110525E110477 Causal - 7 4107 7_72351110526E110479 Causal - 7 5225 SO_-4196G06221G06221 Causal - 71 5360 SO_-4196G07711G07711 Causal - 71 5384 SO_-5238G07982G07982 Causal - 71
1230G>A	c.1230G>A	9		p.Leu410Leu		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3067 19_12057---12057.001 Causal - 19 5481 7_-5765ILP0411542E041238 Causal - 7
1234C>T	c.1234C>T	9		p.Gln412X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3216 33_PSL768---06-1033 Causal - 33
1240C>T	c.1240C>T	9		p.Arg414Cys		UV	unvalidated	00/00/00	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2698 10_APC-115---1521P UV - 10 3504 37_P03.08195819580 UV - 37 3505 37_P08.26777572130,14786 UV - 37 5337 SO_-4974G07543G07543 UV - 71 5467 SO_-5722G08978G08978 UV - 71
1242C>T	c.1242C>T	9		p.Arg414Arg		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4700 SO_-3064G03154G03154 UV - 71
1248C>G	c.1248C>G	9		p.Tyr416X		Causal	French MMR network	25/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3093 20_2355-05---8713 Causal - 20
1263G>A	c.1263G>A	9		p.Trp421X		Causal	unvalidated	00/00/00	16
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5795 10_APC-39---3545 P Causal - 10 5856 10_APC-212---3383 P Causal - 10 2651 10_APC-039---403P Causal - 10 2652 10_APC-039---730P Causal - 10 2653 10_APC-039---731P Causal - 10 2654 10_APC-065---744P Causal - 10 2655 10_APC-125---59P Causal - 10 2656 10_APC-125---60P Causal - 10 2657 10_APC-125---2135P Causal - 10 3464 37_P98.04193--- Causal - 37 3465 37_P98.04773--- Causal - 37 3466 37_P98.04772--- Causal - 37 3752 SO_-50621632163 Causal - 71 4298 SO_-506G00865G00865 Causal - 71 5726 10_APC-39---2866 P Causal - 10 5196 SO_-4025G05886G05886 Causal - 71
1264G>T	c.1264G>T	9		p.Glu422X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2628 10_APC-165---2093P Causal - 10 3594 SO_-93382382 Causal - 71
1266G>T	c.1266G>T	9		p.Glu422Asp		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2554 10_APC-075---890P UV - 10
1270C>T	c.1270C>T	9		p.Gln424X		Causal	unvalidated	00/00/00	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2337 4_32042---32042 Causal - 4 2338 4_32042---33929 Causal - 4 3552 SO_-30166166 Causal - 71 3553 SO_-30167167 Causal - 71 3554 SO_-30168168 Causal - 71 3803 SO_-3035783578 Causal - 71 5404 SO_-3678G08237G08237 Causal - 71 5405 SO_-3678G08238G08238 Causal - 71
1292T>G	c.1292T>G	9		p.Met431Arg		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5820 7_3669G05928G05928 UV - 7
1370C>A	c.1370C>A	10		p.Ser457X	ASEF binding domain ARM1	Causal	unvalidated	00/00/00	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5490 7_-5797ILP0411814E041232 Causal - 7 5612 7_-5797ILP0611294E061277 Causal - 7 5633 7_-5797ILP0611900E070131 Causal - 7 5634 7_-5797ILP0611901E070130 Causal - 7 5662 7_-5797ILP0710381E070563 Causal - 7
1370C>G	c.1370C>G	10		p.Ser457X	ASEF binding domain ARM1	Causal	French MMR network	25/02/15	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2658 10_APC-132---168P Causal - 10 2659 10_APC-132---291P Causal - 10 2660 10_APC-132---293P Causal - 10 4171 SO_-1282G00229G00229 Causal - 71 4343 SO_-2230G01109G01109 Causal - 71 4594 SO_-2230G02426G02426 Causal - 71
1406T>C	c.1406T>C	10		p.Leu469Pro	ASEF binding domain ARM1	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3085 20_1876-01---6293 UV - 20
1411G>T	c.1411G>T	11		p.Gly471X	ASEF binding domain ARM1	Causal	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3797 SO_-60233363336 Causal - 71 3820 SO_-60238263826 Causal - 71 4889 SO_-602G04388G04388 Causal - 71 5104 SO_-602G05361G05361 Causal - 71
1438C>T	c.1438C>T	11		p.Gln480X	ASEF binding domain ARM1	Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2320 4_24730---11968 Causal - 4 2321 4_24730---24730 Causal - 4
1440A>C	c.1440A>C	11		p.Gln480His	ASEF binding domain ARM1	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2147 4_35131---35131 UV - 4
1479C>G	c.1479C>G	11		p.Tyr493X	ASEF binding domain ARM1	Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2339 4_16127---16125 Causal - 4 2340 4_16127---16129 Causal - 4 2341 4_16127---16127 Causal - 4
		11			ASEF binding domain ARM2		unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2269 4_28675---28674 - 4 2270 4_28675---28675 - 4
1495C>T	c.1495C>T	11		p.Arg499X	ASEF binding domain ARM2	Causal	unvalidated	00/00/00	35
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2358 4_30681---30681 Causal - 4 2359 4_------33770 Causal - 4 2661 10_APC-001---759G Causal - 10 2662 10_APC-001---37P Causal - 10 2663 10_APC-001---76P Causal - 10 2664 10_APC-001---77P Causal - 10 2665 10_APC-001---104P Causal - 10 2666 10_APC-001---128P Causal - 10 2667 10_APC-001---408P Causal - 10 2668 10_APC-001---409P Causal - 10 2669 10_APC-001---683P Causal - 10 2987 19_19113---19113.001 Causal - 19 3097 20_3547-01---13643 Causal - 20 3226 33_SAT345---08-990 Causal - 33 3227 33_SAT345---08-992 Causal - 33 3467 37_P11.013-E15426120993 Causal - 37 3571 SO_-57262262 Causal - 71 3572 SO_-57263263 Causal - 71 3629 SO_-307761761 Causal - 71 3795 SO_-39833073307 Causal - 71 3872 SO_-95353075307 Causal - 71 4204 SO_-1111G00396G00396 Causal - 71 4289 SO_-307G00759G00759 Causal - 71 4326 SO_-2184G01020G01020 Causal - 71 4327 SO_-2184G01021G01021 Causal - 71 4479 SO_-539G01642G01642 Causal - 71 4551 SO_-2519G02029G02029 Causal - 71 4878 SO_-539G04302G04302 Causal - 71 4879 SO_-539G04304G04304 Causal - 71 4880 SO_-539G04323G04323 Causal - 71 4957 SO_-953G04777G04777 Causal - 71 5018 SO_-398G04886G04886 Causal - 71 5116 SO_-3919G05520G05520 Causal - 71 5169 SO_-57G05684G05684 Causal - 71 5279 SO_-3919G06901G06901 Causal - 71
1548G>A	c.1548G>A	11		p.Lys516Lys	ASEF binding domain ARM2	UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2137 4_40666---40666 UV - 4 4581 SO_-2655G02308G02308 UV - 71
1548G>C	c.1548G>C	11		p.Lys516Asn	ASEF binding domain ARM2	Causal	unvalidated	00/00/00	11
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2138 4_31557---31557 Causal - 4 2139 4_31557---37702 Causal - 4 2140 4_31557---37700 Causal - 4 2141 4_31557---37701 Causal - 4 2728 19_25082---25082-001 Causal - 19 4050 7_-3182912197E100048 Causal - 7 4730 SO_-3182G03367G03367 Causal - 71 4731 SO_-3182G03370G03370 Causal - 71 4732 SO_-3182G03371G03371 Causal - 71 4733 SO_-3182G03373G03373 Causal - 71 5729 19_25082---25082-001 Causal - 19
1548G>T	c.1548G>T	11		p.Lys516Asn	ASEF binding domain ARM2	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3780 SO_-62730823082 UV - 71
1594C>T	c.1594C>T	12		p.Gln532X	ASEF binding domain ARM2	Causal	French MMR network	25/03/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5851 10_APC-208---3256 P Causal - 10
1600A>T	c.1600A>T	12		p.Lys534X	ASEF binding domain ARM2	Causal	French MMR network	4/03/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5810 19_29985---29985-001 Causal - 19
1621C>T	c.1621C>T	12		p.Gln541X	ASEF binding domain ARM2	Causal	unvalidated	00/00/00	11
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3217 33_SAT246---09-987 Causal - 33 3218 33_SAT426---09-985 Causal - 33 4672 SO_-2365G02949G02949 Causal - 71 4677 SO_-2365G03003G03003 Causal - 71 4690 SO_-2365G03059G03059 Causal - 71 4778 SO_-3467G03773G03773 Causal - 71 5227 SO_-3467G06238G06238 Causal - 71 5353 SO_-5055G07694G07694 Causal - 71 5416 SO_2027G08382G08382 Causal - 71 5460 SO_-2365G08910G08910 Causal - 71 5505 7_-5055ILP0510302E050416 Causal - 7
1626G>C	c.1626G>C	12		p.Gln542His	ASEF binding domain ARM2	Likely Causal	unvalidated	00/00/00	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2754 19_16473---16473.001 Likely Causal - 19 2755 19_20683---20683.001 Likely Causal - 19 3105 33_PSL468---06-235 Likely Causal - 33 3966 7_8498810400E082134 Likely Causal - 7 4059 7_113581010254E101777 Likely Causal - 7
1660C>T	c.1660C>T	13		p.Arg554X	ASEF binding domain ARM3	Causal	unvalidated	00/00/00	28
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2408 4_17964---17964 Causal - 4 3251 33_PSL464---06-073 Causal - 33 3252 33_PSL464---06-229 Causal - 33 3511 37_P01.05887--- Causal - 37 3689 SO_-40410561056 Causal - 71 3750 SO_-40421122112 Causal - 71 3757 SO_-53622502250 Causal - 71 3762 SO_-54223002300 Causal - 71 3790 SO_-46032443244 Causal - 71 3874 SO_-96055515551 Causal - 71 3877 SO_-7857205720 Causal - 71 3989 7_-2039811554E081661 Causal - 7 4037 7_-2039910966E091032 Causal - 7 4286 SO_-2039G00737G00737 Causal - 71 4424 SO_-2372G01411G01411 Causal - 71 4456 SO_-460G01600G01600 Causal - 71 4477 SO_-536G01640G01640 Causal - 71 4552 SO_-2039G02038G02038 Causal - 71 4596 SO_-542G02438G02438 Causal - 71 4604 SO_-2039G02518G02518 Causal - 71 4877 SO_-536G04293G04293 Causal - 71 4999 SO_-78G04853G04853 Causal - 71 5016 SO_-1122G04874G04874 Causal - 71 5218 SO_-4140G06112G06112 Causal - 71 5379 SO_-460G07886G07886 Causal - 71 5464 SO_-4140G08955G08955 Causal - 71 5525 7_-2039ILP0510947E050741 Causal - 7 5690 7_-2039ILP0711119E071398 Causal - 7
1690C>T	c.1690C>T	13		p.Arg564X	ASEF binding domain ARM3	Causal	unvalidated	00/00/00	40
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5811 19_27839---27839.001 Causal - 19 5812 19_27839---27839.002 Causal - 19 2360 4_39886---39886 Causal - 4 2424 SO-2890------ Causal - 71 2670 10_APC-177---2615P Causal - 10 2671 10_APC-012---53P Causal - 10 2672 10_APC-012---120P Causal - 10 2988 19_16263---16263.001 Causal - 19 3228 33_PSL490---06-297 Causal - 33 3229 33_PSL490---06-298 Causal - 33 3468 37_P98.02209--- Causal - 37 3469 37_P98.16210--- Causal - 37 3470 37_P07.08-E602957282 Causal - 37 3471 37_P07.08-E603057283 Causal - 37 3472 37_P07.08-E603257284 Causal - 37 3473 37_P07.08-E603857294 Causal - 37 3538 SO_-14116116 Causal - 71 3616 SO_-226616616 Causal - 71 3824 SO_-1438943894 Causal - 71 3825 SO_-1438953895 Causal - 71 3832 SO_-1439773977 Causal - 71 3833 SO_-1439783978 Causal - 71 3836 SO_-1440054005 Causal - 71 4242 SO_-1321G00563G00563 Causal - 71 4253 SO_-1851G00589G00589 Causal - 71 4296 SO_-2101G00846G00846 Causal - 71 4303 SO_-972G00878G00878 Causal - 71 4385 SO_-972G01252G01252 Causal - 71 4414 SO_-14G01368G01368 Causal - 71 4512 SO_-2440G01808G01808 Causal - 71 4557 SO_-175G02115G02115 Causal - 71 4706 SO_-14G03191G03191 Causal - 71 4828 SO_-226G04128G04128 Causal - 71 4979 SO_-972G04819G04819 Causal - 71 5042 SO_-972G05070G05070 Causal - 71 5387 SO_-175G08058G08058 Causal - 71 5463 SO_-5710G08943G08943 Causal - 71 5651 7_-6491ILP0612119--- Causal - 7 5652 7_-6491ILP0612120E070252 Causal - 7 5653 7_-6491ILP0612121--- Causal - 7
1695A>G	c.1695A>G	13		p.Glu565Glu	ASEF binding domain ARM3	Neutral	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3075 19_19208---19208.001 Neutral - 19 3076 19_19208---19208.001 Neutral - 19 3250 33_SAT203---09-1172 Neutral - 33
1730T>G	c.1730T>G	13		p.Leu577X	ASEF binding domain ARM3	Causal	unvalidated	00/00/00	11
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3716 SO_-46412461246 Causal - 71 3933 SO_-409097069706 Causal - 71 3953 7_-4090804580E091573 Causal - 7 4015 7_11201906046E100157 Causal - 7 4101 7_57531110216E110583 Causal - 7 4140 SO_-464G00085G00085 Causal - 71 4169 SO_-464G00226G00226 Causal - 71 4170 SO_-464G00228G00228 Causal - 71 5212 SO_-4090G06031G06031 Causal - 71 5371 SO_-464G07786G07786 Causal - 71 5716 SO_-464KS0497KS0497 Causal - 71
1732G>T	c.1732G>T	13		p.Glu578X	ASEF binding domain ARM3	Causal	French MMR network	4/03/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5813 19_27039---27039.001 Causal - 19 5814 19_27039---27039-002 Causal - 19
1738A>T	c.1738A>T	13		p.Lys580X	ASEF binding domain ARM3	Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3981 7_9119811213E081381 Causal - 7 4023 7_9119910287E090445 Causal - 7
1756A>T	c.1756A>T	14		p.Lys586X	ASEF binding domain ARM3	Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2422 SO-3603---G04977 Causal - 71 4802 SO_-3509G03954G03954 Causal - 71 5193 SO_-3509G05825G05825 Causal - 71
1775T>G	c.1775T>G	14		p.Leu592X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3474 37_P07.10-E646961567 Causal - 37 5161 SO_-340G05666G05666 Causal - 71 5382 SO_-340G07940G07940 Causal - 71
1797C>A	c.1797C>A	14		p.Cys599X	ASEF binding domain ARM4	Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2673 10_APC-028---210P Causal - 10 2674 10_APC-28---2059P Causal - 10
1855A>G	c.1855A>G	14		p.Thr619Ala	ASEF binding domain ARM4	UV	French MMR network	25/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5731 71_-2126G00894G00894 UV - 71
1866C>A	c.1866C>A	14		p.Tyr622X	ASEF binding domain ARM4	Causal	unvalidated	00/00/00	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2324 4_30679---30679 Causal - 4 3544 SO_-26150150 Causal - 71 3545 SO_-26151151 Causal - 71 3546 SO_-26153153 Causal - 71 3547 SO_-26155155 Causal - 71 3548 SO_-26156156 Causal - 71 3549 SO_-26157157 Causal - 71
1886T>G	c.1886T>G	14		p.Leu629X	ASEF binding domain ARM4	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3475 37_P09.06-E868781784 Causal - 37
1902T>G	c.1902T>G	14		p.Ser634Arg	ASEF binding domain ARM4	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2740 19_13058---13058-001 Causal - 19
1934T>A	c.1934T>A	14		p.Leu645X	ASEF binding domain ARM5	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4496 SO_-2409G01718G01718 Causal - 71
1940C>G	c.1940C>G	14		p.Ala647Gly	ASEF binding domain ARM5	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4447 SO_-438G01589G01589 UV - 71
1948G>T	c.1948G>T	14		p.Glu650X	ASEF binding domain ARM5	Causal	unvalidated	00/00/00	11
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3457 37_P11.08-E14845--- Causal - 37 3958 7_8390810176E080302 Causal - 7 3959 7_-285810178E080303 Causal - 7 4500 SO_-285G01730G01730 Causal - 71 4641 SO_-285G02732G02732 Causal - 71 4770 SO_-285G03719G03719 Causal - 71 5130 SO_-285G05584G05584 Causal - 71 5216 SO_-285G06089G06089 Causal - 71 5243 SO_-285G06460G06460 Causal - 71 5430 SO_-285G08565G08565 Causal - 71 5453 SO_-285G08829G08829 Causal - 71
1957A>G	c.1957A>G	14-15		p.Arg653Gly	ASEF binding domain ARM5	Causal	unvalidated	00/00/00	15
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2555 10_APC-135---592P Causal - 10 2556 10_APC-135---594P Causal - 10 3397 37_P03.071883--- Causal - 37 3398 37_P01.141033--- Causal - 37 3399 37_P10.0041138693362 Causal - 37 3400 37_P98.06222--- Causal - 37 3401 37_P08.37837375705/75706 Causal - 37 3402 37_P09.02860576802 Causal - 37 3403 37_P01.14883277952 Causal - 37 3404 37_P03.0713410102042 Causal - 37 3405 37_P01.141032--- Causal - 37 3406 37_P10.0041138593360 Causal - 37 3407 37_P08.37939981197/81776 Causal - 37 3408 37_P01.149114--- Causal - 37 3409 37_P01.149115--- Causal - 37
1957A>T	c.1957A>T	14-15		p.Arg653Trp	ASEF binding domain ARM5	UV	unvalidated	00/00/00	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5777 37_P13.30-E24054146355 UV - 37 4041 7_6475911260E091607 UV - 7 4083 7_64751011852E101680 UV - 7 4086 7_64751011972E101813 UV - 7 5585 7_-6206ILP0610342E060301 UV - 7 5657 7_-6206ILP0710249E070566 UV - 7 5671 7_-6206ILP0710460E070702 UV - 7 5684 7_-6206ILP0710924E071118 UV - 7 5689 7_-6206ILP0711078E071213 UV - 7
1958G>A	c.1958G>A	14-15		p.Arg653Lys	ASEF binding domain ARM5	Causal	unvalidated	00/00/00	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2730 19_13160---13160.001 Causal - 19 4010 7_9804813126E090122 Causal - 7 4069 7_73341011070E101051 Causal - 7 4089 7_73341012032E101855 Causal - 7 4546 SO_-2498G01977G01977 Causal - 71 4741 SO_-2498G03427G03427 Causal - 71 4777 SO_-2498G03772G03772 Causal - 71 5714 7_7334IPC0702883E071128 Causal - 7
1958G>T	c.1958G>T	14-15		p.Arg653Met	ASEF binding domain ARM5	UV	French MMR network	25/02/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4199 SO_-1068G00384G00384 UV - 71 4331 SO_-1068G01041G01041 UV - 71 5444 SO_-1068G08768G08768 UV - 71
1959G>A	c.1959G>A	14-15		p.Arg653Arg	ASEF binding domain ARM5	Neutral	unvalidated	00/00/00	29
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2142 4_8061---8061 Neutral - 4 2432 10_APC-034---300P Neutral - 10 2732 19_9040---9040.001 Neutral - 19 2733 19_9040---9040.002 Neutral - 19 2734 19_9040---9040.003 Neutral - 19 2735 19_9040---9040.004 Neutral - 19 2736 19_19207---19207.001 Neutral - 19 2737 19_11604---11604.001 Neutral - 19 3083 20_2437-27---9775 Neutral - 20 3259 37_P03.092000--- Neutral - 37 3260 37_P11.08-E14845--- Neutral - 37 3261 37_P00.061037--- Neutral - 37 3262 37_P00.06699--- Neutral - 37 3263 37_P01.061039--- Neutral - 37 3264 37_P00.061199296225/92173 Neutral - 37 3751 SO_-50121302130 Neutral - 71 4143 SO_-1702G00111G00111 Neutral - 71 4165 SO_-1728G00204G00204 Neutral - 71 4250 SO_-1289G00581G00581 Neutral - 71 4251 SO_-1846G00584G00584 Neutral - 71 4386 SO_-1275G01259G01259 Neutral - 71 4430 SO_-501G01459G01459 Neutral - 71 4595 SO_-2700G02436G02436 Neutral - 71 4620 SO_-1275G02618G02618 Neutral - 71 5733 37_P12.1219979130358 Neutral - 37 5143 SO_-501G05623G05623 Neutral - 71 5144 SO_-501G05624G05624 Neutral - 71 5146 SO_-501G05626G05626 Neutral - 71 5496 7_-5842ILP0412113E041266 Neutral - 7
1972G>C	c.1972G>C	15		p.Glu658Gln	ASEF binding domain ARM5	UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2758 19_14669---14669.001 UV - 19 2759 19_14669---14669.001 UV - 19
1999C>T	c.1999C>T	15		p.Gln667X	ASEF binding domain ARM5	Causal	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3559 SO_-37186186 Causal - 71 5066 SO_-4126G05292G05292 Causal - 71 5217 SO_-4126G06093G06093 Causal - 71 5365 SO_-37G07729G07729 Causal - 71
2044G>T	c.2044G>T	15		p.Gly682X		Causal	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4792 SO_-471G03873G03873 Causal - 71 5207 SO_-471G05997G05997 Causal - 71 5208 SO_-471G06001G06001 Causal - 71 5209 SO_-471G06012G06012 Causal - 71
2054G>A	c.2054G>A	15		p.Trp685X	ASEF binding domain ARM6	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3633 SO_-323783783 Causal - 71
2055G>A	c.2055G>A	15		p.Trp685X	ASEF binding domain ARM6	Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3688 SO_-39910511051 Causal - 71 3829 SO_-39939333933 Causal - 71
2096G>A	c.2096G>A	15		p.Trp699X	ASEF binding domain ARM6	Causal	unvalidated	00/00/00	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4667 SO_-159G02895G02895 Causal - 71 4722 SO_-159G03309G03309 Causal - 71 4743 SO_-159G03448G03448 Causal - 71 5233 SO_-4235G06312G06312 Causal - 71 5602 7_-4235ILP0611132E060904 Causal - 7 5603 7_-4235ILP0611134E060906 Causal - 7 5604 7_-4235ILP0611135E060905 Causal - 7 5605 7_-4235ILP0611136E060907 Causal - 7
2099A>C	c.2099A>C	15		p.Asp700Ala	ASEF binding domain ARM6	Likely Neutral	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2875 19_12394---12394.010 Likely Neutral - 19 2876 19_12394---12394.003 Likely Neutral - 19
2138C>G	c.2138C>G	15		p.Ser713X	ASEF binding domain ARM6	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3935 7_5126503200E051064 Causal - 7
2222A>G	c.2222A>G	15		p.Asn741Ser	ASEF binding domain ARM7	UV	unvalidated	00/00/00	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4642 SO_-2865G02739G02739 UV - 71 5291 SO_-2865G06999G06999 UV - 71 5319 SO_-2865G07314G07314 UV - 71 5320 SO_-2865G07315G07315 UV - 71 5364 SO_-2865G07724G07724 UV - 71 5370 SO_-2865G07781G07781 UV - 71
2237G>T	c.2237G>T	15		p.Gly746Val	ASEF binding domain ARM7	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3091 20_1192-01---3863 UV - 20
2240C>G	c.2240C>G	15		p.Ser747X	ASEF binding domain ARM7	Causal	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4055 7_128811006440E110082 Causal - 7 4548 SO_-2514G01995G01995 Causal - 71 5311 SO_-2514G07165G07165 Causal - 71 5514 7_-5953ILP0510694E050600 Causal - 7
2246T>A	c.2246T>A	15		p.Leu749X	ASEF binding domain ARM7	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2342 4_25899---25899 Causal - 4
2287G>T	c.2287G>T	15		p.Glu763X	ASEF binding domain ARM7	Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2611 10_APC-007---19P Causal - 10 4503 SO_-2424G01745G01745 Causal - 71 5103 SO_-601G05360G05360 Causal - 71
2309C>G	c.2309C>G	15		p.Ser770X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5628 7_-6425ILP0611792E061777 Causal - 7
2322C>T	c.2322C>T	15		p.Asp774Asp		UV	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2268 4_31499---31499 UV - 4 2868 19_20730---20730-001 UV - 19 2869 19_12710---12710.001 UV - 19 2870 19_12710---12710.001 UV - 19
2344A>T	c.2344A>T	15		p.Lys782X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4392 SO_-260G01283G01283 Causal - 71
2365C>T	c.2365C>T	15		p.Gln789X		Causal	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3458 37_P05.022785--- Causal - 37 3615 SO_-205586586 Causal - 71 5565 7_-6105ILP0512460E051378 Causal - 7 5637 7_-6105ILP0611953E061717 Causal - 7
2377C>T	c.2377C>T	15		p.Gln793X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2612 10_APC-150---1979P Causal - 10 2613 10_APC-150---2141P Causal - 10
2413C>T	c.2413C>T	15		p.Arg805X		Causal	unvalidated	00/00/00	43
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5766 37_P01.0626102154341 Causal - 37 2361 4_19238---19238 Causal - 4 2362 4_17868---17868 Causal - 4 2363 4_17868---30104 Causal - 4 2364 4_17868---39540 Causal - 4 2675 10_APC-099---1199P Causal - 10 2676 10_APC-099---1357P Causal - 10 3476 37_P98.03211--- Causal - 37 3477 37_P98.03211--- Causal - 37 3478 37_P01.061039--- Causal - 37 3479 37_P98.03234--- Causal - 37 3480 37_P98.031046988073/90332 Causal - 37 3481 37_P98.03242--- Causal - 37 3482 37_P98.031047188075/90334 Causal - 37 3483 37_P98.031047088074/90333 Causal - 37 3484 37_P01.067174--- Causal - 37 3595 SO_-97386386 Causal - 71 3691 SO_-41110851085 Causal - 71 3692 SO_-41110861086 Causal - 71 3693 SO_-41110871087 Causal - 71 3694 SO_-41110881088 Causal - 71 3695 SO_-41110891089 Causal - 71 3696 SO_-41110911091 Causal - 71 3697 SO_-41110951095 Causal - 71 3724 SO_-41117581758 Causal - 71 3725 SO_-41117601760 Causal - 71 4293 SO_-1081G00814G00814 Causal - 71 4294 SO_-1081G00815G00815 Causal - 71 4328 SO_-1081G01031G01031 Causal - 71 4329 SO_-1081G01034G01034 Causal - 71 4367 SO_-6G01199G01199 Causal - 71 4412 SO_-2356G01365G01365 Causal - 71 4442 SO_-364G01579G01579 Causal - 71 4524 SO_-1081G01861G01861 Causal - 71 4836 SO_-364G04168G04168 Causal - 71 4837 SO_-364G04169G04169 Causal - 71 4838 SO_-364G04170G04170 Causal - 71 4987 SO_-925G04835G04835 Causal - 71 5162 SO_-6G05667G05667 Causal - 71 5367 SO_-5076G07745G07745 Causal - 71 5455 SO_-5674G08861G08861 Causal - 71 5555 7_-5076ILP0512098E051113 Causal - 7 5556 7_-5076ILP0512099E051115 Causal - 7
2510C>G	c.2510C>G	15		p.Ser837X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2989 19_23568---23568-001 Causal - 19
2522T>G	c.2522T>G	15		p.Leu841X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5288 SO_-4579G06970G06970 Causal - 71 5358 SO_-5053G07703G07703 Causal - 71
2563G>T	c.2563G>T	15		p.Glu855X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5559 7_-6087ILP0512185E051237 Causal - 7
2626C>T	c.2626C>T	15		p.Arg876X		Causal	unvalidated	00/00/00	35
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5774 37_P98.1224398147862 Causal - 37 5775 37_P98.1224397147861 Causal - 37 2425 SO-553---G01651 Causal - 71 2677 10_APC-027---198P Causal - 10 2990 19_14677---14677.001 Causal - 19 2991 19_14677---14677.002 Causal - 19 2992 19_14677---14677.003 Causal - 19 3485 37_P98.12205--- Causal - 37 3486 37_P01.131471--- Causal - 37 3487 37_P98.121185695677 Causal - 37 3611 SO_-171541541 Causal - 71 3612 SO_-171542542 Causal - 71 3613 SO_-171546546 Causal - 71 3909 SO_-28977707770 Causal - 71 4065 7_116411010647E100927 Causal - 7 4239 SO_-1243G00557G00557 Causal - 71 4311 SO_-192G00914G00914 Causal - 71 4376 SO_-1048G01231G01231 Causal - 71 4397 SO_-2340G01311G01311 Causal - 71 4440 SO_-192G01577G01577 Causal - 71 4498 SO_-2414G01728G01728 Causal - 71 4540 SO_-1243G01949G01949 Causal - 71 4541 SO_-1243G01950G01950 Causal - 71 4542 SO_-1243G01951G01951 Causal - 71 4543 SO_-1243G01955G01955 Causal - 71 4713 SO_-3133G03277G03277 Causal - 71 4827 SO_-192G04122G04122 Causal - 71 4946 SO_-1048G04637G04637 Causal - 71 4947 SO_-1048G04639G04639 Causal - 71 4967 SO_-1048G04800G04800 Causal - 71 5111 SO_-289G05438G05438 Causal - 71 5219 SO_-192G06203G06203 Causal - 71 5238 SO_-192G06377G06377 Causal - 71 5301 SO_-1243G07076G07076 Causal - 71 5313 SO_-4786G07173G07173 Causal - 71
2628A>G	c.2628A>G	15		p.Arg876Arg		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2446 10_APC-058---670P UV - 10
2677G>T	c.2677G>T	15		p.Glu893X		Causal	unvalidated	00/00/00	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2325 4_27310---27310 Causal - 4 2614 10_APC-052---603P Causal - 10 4262 SO_-1180G00636G00636 Causal - 71 5025 SO_-1180G04919G04919 Causal - 71 5709 7_-6325IPC0104910E060963 Causal - 7
2701C>T	c.2701C>T	15		p.Gln901X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2629 10_APC-024---143P Causal - 10 3975 7_8763810783E082027 Causal - 7
2752G>T	c.2752G>T	15		p.Glu918X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5735 19_21357---21357.002 Causal - 19
2767A>T	c.2767A>T	15		p.Arg923X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4027 7_10089910424E091608 Causal - 7
2795C>A	c.2795C>A	15		p.Ser932X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5380 SO_-5194G07922G07922 Causal - 71
2795C>G	c.2795C>G	15		p.Ser932X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2365 4_39981---39981 Causal - 4 5226 SO_-4190G06224G06224 Causal - 71
2805C>A	c.2805C>A	15		p.Tyr935X		Causal	unvalidated	00/00/00	35
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5840 10_APC-202---3067 P Causal - 10 2326 4_33802---33802 Causal - 4 2327 4_43092---43092 Causal - 4 2616 10_APC-077---896P Causal - 10 2617 10_APC-094---1072P Causal - 10 3207 33_PSL2477---09-662, Causal - 33 3208 33_PSL860---06-1257 Causal - 33 3209 33_SAT0181---07-751 Causal - 33 3443 37_P01.02-E86974997 Causal - 37 3444 37_P01.02-E943381251 Causal - 37 3556 SO_-36181181 Causal - 71 3557 SO_-36182182 Causal - 71 3558 SO_-36183183 Causal - 71 3589 SO_-89364364 Causal - 71 3620 SO_-280707707 Causal - 71 3769 SO_-59925822582 Causal - 71 4006 7_-318812909E082382 Causal - 7 4060 7_114741010285E101299 Causal - 7 4151 SO_-253G00155G00155 Causal - 71 4158 SO_-1714G00183G00183 Causal - 71 4159 SO_-1714G00184G00184 Causal - 71 4160 SO_-1714G00185G00185 Causal - 71 4279 SO_640G00710G00710 Causal - 71 4283 SO_640G00730G00730 Causal - 71 4335 SO_-2176G01057G01057 Causal - 71 4679 SO_640G03025G03025 Causal - 71 4680 SO_640G03027G03027 Causal - 71 4709 SO_640G03208G03208 Causal - 71 5041 SO_-2176G05045G05045 Causal - 71 5056 SO_-36G05268G05268 Causal - 71 5736 10_APC-94---2800 P Causal - 10 5197 SO_-318G05892G05892 Causal - 71 5343 SO_-4997G07597G07597 Causal - 71 5535 7_-6014ILP0511268E050878 Causal - 7 5737 37_P02.09149012256 Causal - 37
2805C>G	c.2805C>G	15		p.Tyr935X		Causal	unvalidated	00/00/00	11
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2630 10_APC-142---1663P Causal - 10 3219 33_PSL1360---07-1263 Causal - 33 3617 SO_-255664664 Causal - 71 3618 SO_-255665665 Causal - 71 3619 SO_-255666666 Causal - 71 4441 SO_-255G01578G01578 Causal - 71 4831 SO_-294G04146G04146 Causal - 71 4974 SO_-1035G04812G04812 Causal - 71 5048 SO_-3734G05132G05132 Causal - 71 5165 SO_-294G05670G05670 Causal - 71 5246 SO_-3734G06530G06530 Causal - 71
2828C>G	c.2828C>G	15		p.Ser943X		Causal	unvalidated	00/00/00	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3488 37_P01.12608--- Causal - 37 3489 37_P01.121141--- Causal - 37 3490 37_P01.121142--- Causal - 37 3614 SO_-176552552 Causal - 71 3732 SO_-17619801980 Causal - 71 3733 SO_-17619811981 Causal - 71 4653 SO_-2897G02814G02814 Causal - 71
2837C>T	c.2837C>T	15		p.Thr946Ile		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2442 10_APC-076---886P UV - 10
2853T>G	c.2853T>G	15		p.Tyr951X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2631 10_APC-014---71P Causal - 10
2866T>C	c.2866T>C	15		p.Tyr956His		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3106 33_PSL1537---08-273 UV - 33
2868C>G	c.2868C>G	15		p.Tyr956X		Causal	unvalidated	00/00/00	16
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2632 10_APC-023---140P Causal - 10 2633 10_APC-023---308P Causal - 10 2634 10_APC-023---364P Causal - 10 2971 19_16024---16024.001 Causal - 19 3717 SO_-214821482 Causal - 71 3888 SO_-274097409 Causal - 71 3889 SO_-274117411 Causal - 71 3890 SO_-274137413 Causal - 71 3891 SO_-274167416 Causal - 71 3904 SO_-276747674 Causal - 71 3905 SO_-276757675 Causal - 71 3906 SO_-276767676 Causal - 71 3907 SO_-276807680 Causal - 71 3992 7_9433811660E081739 Causal - 7 3993 7_9433811661E081740 Causal - 7 5274 SO_-2G06828G06828 Causal - 71
2891T>G	c.2891T>G	15		p.Leu964X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2366 4_36707---36707 Causal - 4 4998 SO_-141G04851G04851 Causal - 71
2913T>C	c.2913T>C	15		p.Asp971Asp		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5821 33_PSL 695---06-854 UV - 33
2932C>T	c.2932C>T	15		p.Gln978X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4685 SO_-1312G03048G03048 Causal - 71 4953 SO_-1312G04682G04682 Causal - 71 5466 SO_-1312G08969G08969 Causal - 71
2950G>T	c.2950G>T	15		p.Glu984X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4553 SO_-2536G02064G02064 Causal - 71 4554 SO_-2536G02066G02066 Causal - 71
2957A>G	c.2957A>G	15		p.Tyr986Cys		UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3779 SO_-53229242924 UV - 71 4474 SO_-532G01637G01637 UV - 71
2958T>A	c.2958T>A	15		p.Tyr986X		Causal	unvalidated	00/00/00	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2618 10_APC-006---012P Causal - 10 2619 10_APC-006---234P Causal - 10 2620 10_APC-009---25P Causal - 10 2621 10_APC-009---138P Causal - 10 2622 10_APC-009---152P Causal - 10 4138 SO_-1679G00080G00080 Causal - 71
2985C>A	c.2985C>A	15		p.Cys995X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2367 4_26349---26349 Causal - 4 2426 SO-5718------ Causal - 71 4282 SO_-2067G00725G00725 Causal - 71
2991T>G	c.2991T>G	15		p.Tyr997X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4176 SO_-1112G00246G00246 Causal - 71 4295 SO_-1112G00821G00821 Causal - 71 5006 SO_-1112G04862G04862 Causal - 71
2995C>T	c.2995C>T	15		p.Gln999X		Causal	unvalidated	00/00/00	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4966 SO_-1047G04794G04794 Causal - 71 5118 SO_-1047G05523G05523 Causal - 71 5119 SO_-1047G05524G05524 Causal - 71 5517 7_-1047ILP0510740E050566 Causal - 7 5518 7_-1047ILP0510742E050567 Causal - 7
3000C>A	c.3000C>A	15		p.Tyr1000X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2968 19_17286---17286.001 Causal - 19
3076A>C	c.3076A>C	15		p.Asn1026His	Beta-catenin binding domain 1	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4091 7_126201012399E102145 UV - 7
3081T>A	c.3081T>A	15		p.Tyr1027X	Beta-catenin binding domain 1	Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4501 SO_-2458G01734G01734 Causal - 71 4535 SO_-2458G01931G01931 Causal - 71
3102G>A	c.3102G>A	15		p.Glu1034Glu	Beta-catenin binding domain 1	Likely Neutral	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3171 33_PSL2250---09-0080 Likely Neutral - 33
3103C>T	c.3103C>T	15		p.Gln1035X		Causal	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3220 33_PSL1121---07-607 Causal - 33 3844 SO_-16542634263 Causal - 71 4825 SO_-165G04112G04112 Causal - 71 5067 SO_-165G05295G05295 Causal - 71
3133C>T	c.3133C>T	15		p.Gln1045X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2343 4_30404---30404 Causal - 4 4029 7_-2982910440E091576 Causal - 7 4673 SO_-2982G02976G02976 Causal - 71
3139G>T	c.3139G>T	15		p.Glu1047X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4123 SO_-1667G00026G00026 Causal - 71 4662 SO_-1667G02863G02863 Causal - 71
3146G>A	c.3146G>A	15		p.Trp1049X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3459 37_P12.01920449132050/132 Causal - 37 4578 SO_-2645G02296G02296 Causal - 71
3147G>A	c.3147G>A	15		p.Trp1049X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3233 33_PSL2167---08-1927 Causal - 33
3165A>T	c.3165A>T	15		p.Ile1055Ile		Neutral	unvalidated	00/00/00	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5780 37_P13.4024735149135 Neutral - 37 2146 4_36957---36957 Neutral - 4 2747 19_11431---11431.001 Neutral - 19 2748 19_11431---11431.001 Neutral - 19 2749 19_17769---17769.001 Neutral - 19 3103 33_PSL2697---09-1304 Neutral - 33
3173A>G	c.3173A>G	15		p.Asp1058Gly		Likely Neutral	unvalidated	00/00/00	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5803 33_PSL1080---07-512 Likely Neutral - 33 5822 33_PSL 1080---07-512 Likely Neutral - 33 2877 19_14572---14572.001 Likely Neutral - 19 3410 37_P11.01217273118435 Likely Neutral - 37 3411 37_P11.01217272118434 Likely Neutral - 37 3412 37_P11.01215367110428 Likely Neutral - 37
3181A>T	c.3181A>T	15		p.Lys1061X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3721 SO_-1116641664 Causal - 71 3894 SO_-1175847584 Causal - 71 5677 7_-11ILP0710648E070851 Causal - 7
3184C>T	c.3184C>T	15		p.Gln1062X		Causal	unvalidated	00/00/00	31
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3211 33_SAT154---07-269 Causal - 33 3970 7_-1887810696E080743 Causal - 7 3971 7_-1887810697E080742 Causal - 7 4001 7_-1887812495E082267 Causal - 7 4002 7_-1887812496E082268 Causal - 7 4117 7_-1887E041216E041216 Causal - 7 4269 SO_-1887G00677G00677 Causal - 71 4284 SO_-1887G00733G00733 Causal - 71 4285 SO_-1887G00734G00734 Causal - 71 5324 SO_-1887G07351G07351 Causal - 71 5400 SO_-1887G08189G08189 Causal - 71 5425 SO_-1887G08500G08500 Causal - 71 5426 SO_-1887G08503G08503 Causal - 71 5427 SO_-1887G08504G08504 Causal - 71 5456 SO_-1887G08878G08878 Causal - 71 5457 SO_-1887G08880G08880 Causal - 71 5472 SO_-1887G09047G09047 Causal - 71 5487 7_-1887ILP0411771E041063 Causal - 7 5488 7_-1887ILP0411782E041039 Causal - 7 5491 7_-1887ILP0411888E041051 Causal - 7 5492 7_-1887ILP0411889E041053 Causal - 7 5502 7_-1887ILP0510191E050289 Causal - 7 5503 7_-1887ILP0510192E050290 Causal - 7 5511 7_-1887ILP0510616E050449 Causal - 7 5550 7_-1887ILP0511919E051294 Causal - 7 5568 7_-1887ILP0512596E051481 Causal - 7 5594 7_-1887ILP0611011E060797 Causal - 7 5606 7_-1887ILP0611213E061034 Causal - 7 5644 7_-1887ILP0612062E070082 Causal - 7 5645 7_-1887ILP0612063E070083 Causal - 7 5707 7_-1887ILP0711910--- Causal - 7
3199C>T	c.3199C>T	15		p.Gln1067X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5631 7_-6433ILP0611846E070194 Causal - 7
3203C>G	c.3203C>G	15		p.Ser1068X		Causal	unvalidated	00/00/00	11
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5819 10_APC-213---3425 P Causal - 10 2368 4_25670---25670 Causal - 4 2995 19_2328---2328.001 Causal - 19 2996 19_2328---2328.002 Causal - 19 3928 SO_-589658965 Causal - 71 3982 7_9133811288E090435 Causal - 7 5036 SO_-3676G04996G04996 Causal - 71 5182 SO_-5G05724G05724 Causal - 71 5266 SO_-3676G06709G06709 Causal - 71 5267 SO_-3676G06714G06714 Causal - 71 5540 7_-3676ILP0511423E050915 Causal - 7
3225T>A	c.3225T>A	15		p.Tyr1075X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4491 SO_-2398G01700G01700 Causal - 71 4492 SO_-2398G01701G01701 Causal - 71
3234T>A	c.3234T>A	15		p.Tyr1078X		Causal	unvalidated	00/00/00	11
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2623 10_APC-064---741P Causal - 10 2624 10_APC-064---1013P Causal - 10 2625 10_APC-064---1014P Causal - 10 3212 33_SAT453---09-670 Causal - 33 3213 33_SAT453---09-672 Causal - 33 4362 SO_-492G01181G01181 Causal - 71 4363 SO_-492G01182G01182 Causal - 71 4438 SO_-149G01575G01575 Causal - 71 4822 SO_-149G04096G04096 Causal - 71 4823 SO_-149G04097G04097 Causal - 71 4995 SO_-492G04847G04847 Causal - 71
3249T>G	c.3249T>G	15		p.Asp1083Glu		Likely Neutral	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2553 10_--------- Likely Neutral - 10
3283C>T	c.3283C>T	15		p.Gln1095X		Causal	unvalidated	00/00/00	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4765 SO_-316G03642G03642 Causal - 71 4780 SO_-316G03834G03834 Causal - 71 4801 SO_-316G03934G03934 Causal - 71 4832 SO_-316G04154G04154 Causal - 71 5071 SO_-316G05299G05299 Causal - 71 5513 7_-5955ILP0510687E050599 Causal - 7 5611 7_-316ILP0611260E061035 Causal - 7
3286C>T	c.3286C>T	15		p.Gln1096X		Causal	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2344 4_34080---34080 Causal - 4 2635 10_APC-168---2271P Causal - 10 5206 SO_-4065G05979G05979 Causal - 71 5423 SO_-4065G08439G08439 Causal - 71
3306C>A	c.3306C>A	15		p.Tyr1102X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4321 SO_-2171G01003G01003 Causal - 71 5298 SO_-2171G07069G07069 Causal - 71 5515 7_-2171ILP0510697E050570 Causal - 7
3329C>G	c.3329C>G	15		p.Ser1110X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2679 10_APC-044---513P Causal - 10 2680 10_APC-044---1815P Causal - 10 5524 7_-5984ILP0510929E050726 Causal - 7
3340C>T	c.3340C>T	15		p.Arg1114X		Causal	unvalidated	00/00/00	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5796 10_APC-218---3554 P Causal - 10 2369 4_33902---33902 Causal - 4 2370 4_40625---40625 Causal - 4 2681 10_APC-040---405P Causal - 10 2997 19_10060---10060.001 Causal - 19 4704 SO_-3067G03162G03162 Causal - 71 4790 SO_-3433G03863G03863 Causal - 71 5386 SO_-3067G08031G08031 Causal - 71 5563 7_-6090ILP0512222E051236 Causal - 7
3386T>C	c.3386T>C	15		p.Leu1129Ser		Neutral	unvalidated	00/00/00	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2356 4_23088---23088 Neutral - 4 2982 19_17587---17587.001 Neutral - 19 2983 19_13981---13981.001 Neutral - 19 2984 19_15859---15859.001 Neutral - 19 2985 19_19668---19668.001 Neutral - 19 4197 SO_-920G00379G00379 Neutral - 71
3389G>A	c.3389G>A	15		p.Cys1130Tyr			unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3094 20_2017-14---7319 - 20
3402C>A	c.3402C>A	15		p.Asp1134Glu		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2551 10_APC-063---724P UV - 10
3425A>C	c.3425A>C	15		p.Asn1142Thr	Beta-catenin binding domain 2	Likely Neutral	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2430 10_APC-081---923P Likely Neutral - 10
3441C>A	c.3441C>A	15		p.Tyr1147X	Beta-catenin binding domain 2	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5655 7_-6545ILP0710225E070545 Causal - 7
3441C>G	c.3441C>G	15		p.Tyr1147X	Beta-catenin binding domain 2	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5465 SO_-5700G08965G08965 Causal - 71
3454C>T	c.3454C>T	15		p.Gln1152X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2972 19_17875---17875.001 Causal - 19
3460G>T	c.3460G>T	15		p.Glu1154X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4645 SO_-2850G02752G02752 Causal - 71 5428 SO_-2850G08519G08519 Causal - 71
3471G>A	c.3471G>A	15		p.Glu1157Glu	Beta-catenin binding domain 3	Likely Neutral	unvalidated	00/00/00	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2863 19_7580---7580.001 Likely Neutral - 19 2864 19_7580---7580.001 Likely Neutral - 19 3172 33_SAT539---10-273, Likely Neutral - 33 3173 33_PSL1067---07-478, Likely Neutral - 33 3174 33_SAT581---10-1019 Likely Neutral - 33
3511C>T	c.3511C>T	15		p.Arg1171Cys		Likely Neutral	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2699 10_APC-088---1003P Likely Neutral - 10
3523C>T	c.3523C>T	15		p.Gln1175X	Beta-catenin binding domain 4	Causal	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2345 4_17169---17169 Causal - 4 2346 4_17169---43976 Causal - 4 3460 37_P11.09-E14901118388 Causal - 37 3461 37_P11.09-E18708127726 Causal - 37
3566C>G	c.3566C>G	15		p.Ser1189X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3940 7_1324603204E100373 Causal - 7 4054 7_13241000475E100371 Causal - 7
3577C>T	c.3577C>T	15		p.Gln1193X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3634 SO_-326786786 Causal - 71 3734 SO_-32619851985 Causal - 71 3735 SO_-32619901990 Causal - 71
3593C>G	c.3593C>G	15		p.Ser1198X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3234 33_PSL1049---07-444 Causal - 33
3602C>A	c.3602C>A	15		p.Ser1201X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5845 10_APC-191---3159 P Causal - 10 2969 19_21781---21781-001 Causal - 19 5739 10_APC-191---2833 P Causal - 10
3610C>T	c.3610C>T	15		p.Gln1204X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2626 10_APC-087---1001P Causal - 10
3662C>A	c.3662C>A	15		p.Pro1221His		UV	French MMR network	25/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2148 4_23882---23882 UV - 4
3682C>T	c.3682C>T	15		p.Gln1228X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5033 SO_-3648G04977G04977 Causal - 71
3688C>T	c.3688C>T	15		p.Gln1230X		Causal	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4937 SO_-952G04606G04606 Causal - 71 4938 SO_-952G04607G04607 Causal - 71 4958 SO_-952G04778G04778 Causal - 71 5445 SO_-952G08773G08773 Causal - 71
3691C>G	c.3691C>G	15		p.Leu1231Val		Likely Neutral	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2878 19_21781---21781-001 Likely Neutral - 19
3724C>T	c.3724C>T	15		p.Gln1242X		Causal	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3991 7_4126811608E081647 Causal - 7 3996 7_4126811715E081766 Causal - 7 4034 7_4126910686E090813 Causal - 7 5459 SO_4126G08901G08901 Causal - 71
3730C>T	c.3730C>T	15		p.Gln1244X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4931 SO_-857G04564G04564 Causal - 71
3732A>G	c.3732A>G	15		p.Gln1244Gln		Likely Neutral	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2760 19_19208---19208.001 Likely Neutral - 19 3107 33_SAT203---09-1172 Likely Neutral - 33 5309 SO_-4761G07149G07149 Likely Neutral - 71
3739G>A	c.3739G>A	15		p.Ala1247Thr		Likely Neutral	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2731 19_18980---18980-001 Likely Neutral - 19
3747C>A	c.3747C>A	15		p.Cys1249X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4710 SO_-3093G03223G03223 Causal - 71 4892 SO_-3093G04396G04396 Causal - 71
3748A>T	c.3748A>T	15		p.Lys1250X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5052 SO_-3775G05200G05200 Causal - 71
3796G>T	c.3796G>T	15		p.Asp1266Tyr	Beta-catenin degradation domai	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3223 33_PSL2695---09-1302 UV - 33
3815C>G	c.3815C>G	15		p.Ser1272X	Beta-catenin degradation domai	Causal	unvalidated	00/00/00	18
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3235 33_PSL448---06-198 Causal - 33 3550 SO_-27160160 Causal - 71 3551 SO_-27161161 Causal - 71 3817 SO_-2737753775 Causal - 71 3818 SO_-2737773777 Causal - 71 4429 SO_-2557G01437G01437 Causal - 71 4466 SO_-505G01623G01623 Causal - 71 4560 SO_-2557G02123G02123 Causal - 71 4598 SO_-505G02457G02457 Causal - 71 4692 SO_-2557G03102G03102 Causal - 71 4695 SO_-2557G03124G03124 Causal - 71 4696 SO_-2557G03125G03125 Causal - 71 4720 SO_-505G03303G03303 Causal - 71 4721 SO_-505G03306G03306 Causal - 71 4723 SO_-3145G03320G03320 Causal - 71 4874 SO_-505G04282G04282 Causal - 71 4875 SO_-505G04285G04285 Causal - 71 5471 SO_-505G09028G09028 Causal - 71
3827C>G	c.3827C>G	15		p.Ser1276X	Beta-catenin degradation domai	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2682 10_APC-046---480P Causal - 10
3842C>A	c.3842C>A	15		p.Ser1281X	Beta-catenin degradation domai	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5175 SO_-146G05703G05703 Causal - 71
3845C>G	c.3845C>G	15		p.Ser1282X	Beta-catenin degradation domai	Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4676 SO_-2974G02989G02989 Causal - 71 5325 SO_-2974G07372G07372 Causal - 71 5545 7_-2974ILP0511739E051295 Causal - 7
3856G>T	c.3856G>T	15		p.Glu1286X		Causal	French MMR network	9/03/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5824 33_PSL 309---05-576 Causal - 33 5825 33_PSL 309---05-577 Causal - 33
3880C>T	c.3880C>T	15		p.Gln1294X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4116 7_-5863E041180E041180 Causal - 7
3907C>T	c.3907C>T	15		p.Gln1303X		Causal	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2703 10_APC-133---82P Causal - 10 2704 10_APC-133---83P Causal - 10 4161 SO_-1715G00188G00188 Causal - 71 5510 7_-1715ILP0510605E050451 Causal - 7
3920T>A	c.3920T>A	15		p.Ile1307Lys		Neutral	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3099 33_PSL3028---10-331 Neutral - 33 4739 SO_-3195G03415G03415 Neutral - 71
3925G>T	c.3925G>T	15		p.Glu1309X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4155 SO_-234G00167G00167 Causal - 71 5178 SO_-62G05709G05709 Causal - 71
3944C>A	c.3944C>A	15		p.Ser1315X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5601 7_-6311ILP0611114E060917 Causal - 7
3949G>C	c.3949G>C	15		p.Glu1317Gln		Neutral	unvalidated	00/00/00	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5761 2_02-ACT2008_14897_14897 Neutral - 2 2750 19_21943---21943-001 Neutral - 19 2751 19_19912---19112.001 Neutral - 19 3084 20_1713-04---5929 Neutral - 20 5251 SO_-4457G06580G06580 Neutral - 71
3949G>T	c.3949G>T	15		p.Glu1317X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2329 4_40857---30015 Causal - 4 2330 4_40857---40857 Causal - 4
3982C>T	c.3982C>T	15		p.Gln1328X		Causal	unvalidated	00/00/00	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2423 SO-513------ Causal - 71 3781 SO_-31931613161 Causal - 71 4467 SO_-3481G01626G01626 Causal - 71 4531 SO_-319G01880G01880 Causal - 71 4762 SO_-3481G03610G03610 Causal - 71 4881 SO_-3481G04325G04325 Causal - 71
4006A>T	c.4006A>T	15		p.Arg1336X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3943 7_6387604628E080992 Causal - 7 4040 7_10581911240E100090 Causal - 7 4084 7_105811011930E110039 Causal - 7
4012C>T	c.4012C>T	15		p.Gln1338X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4740 SO_-3208G03416G03416 Causal - 71
4057G>C	c.4057G>C	15		p.Glu1353Gln		Likely Neutral	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2752 19_717---717.001 Likely Neutral - 19 5026 SO_-358G04923G04923 Likely Neutral - 71
4099C>T	c.4099C>T	15		p.Gln1367X		Causal	unvalidated	00/00/00	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2636 10_APC-158---2132P Causal - 10 2973 19_319---319.001 Causal - 19 2974 19_319---319.003 Causal - 19 2975 19_319---319.006 Causal - 19 3865 SO_-15649124912 Causal - 71 3954 7_7523810054E080112 Causal - 7 4824 SO_-156G04105G04105 Causal - 71 4991 SO_-156G04841G04841 Causal - 71 5683 7_-6672ILP0710923E071144 Causal - 7
4108A>T	c.4108A>T	15		p.Lys1370X		Causal	unvalidated	00/00/00	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3445 37_P98.1324828 Causal - 37 3446 37_P00.111171--- Causal - 37 3447 37_P00.111838--- Causal - 37 3448 37_P00.11822--- Causal - 37 3449 37_P00.112213--- Causal - 37 3450 37_P98.136285--- Causal - 37 3451 37_P00.111178--- Causal - 37 4377 SO_-2310G01232G01232 Causal - 71 5013 SO_-1074G04871G04871 Causal - 71
4132C>T	c.4132C>T	15		p.Gln1378X	Beta-catenin degradation domai	Causal	unvalidated	00/00/00	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2347 4_17004---17004 Causal - 4 3221 33_PSL2835---09-1732 Causal - 33 3462 37_P10-008-E1203494461 Causal - 37 3463 37_P10.008-E1281799622 Causal - 37 4314 SO_-2139G00920G00920 Causal - 71 4454 SO_-458G01598G01598 Causal - 71
4141C>A	c.4141C>A	15		p.Pro1381Thr	Beta-catenin degradation domai	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3258 37_P05.032940--- UV - 37
4175C>G	c.4175C>G	15		p.Ser1392X	Beta-catenin degradation domai	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2371 4_35813---35813 Causal - 4
4189G>T	c.4189G>T	15		p.Glu1397X	Beta-catenin degradation domai	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2348 4_21514---21514 Causal - 4
4199C>A	c.4199C>A	15		p.Ser1400X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2637 10_APC-091---1039P Causal - 10
4212C>A	c.4212C>A	15		p.Ser1404Ser		UV	French MMR network	9/03/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5746 37_P12.27-E2108921089 UV - 37
4216C>T	c.4216C>T	15		p.Gln1406X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5028 SO_-1151G04926G04926 Causal - 71
4222G>T	c.4222G>T	15		p.Glu1408X		Causal	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4036 7_-2415910857E090966 Causal - 7 4071 7_103491011128E101137 Causal - 7 4278 SO_-2073G00704G00704 Causal - 71 4499 SO_-2415G01729G01729 Causal - 71
4256G>A	c.4256G>A	15		p.Ser1419Asn		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2729 19_12236---12236.001 UV - 19
4326T>A	c.4326T>A	15		p.Pro1442Pro		Neutral	unvalidated	00/00/00	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2763 19_19206---19206.001 Neutral - 19 2764 19_21016---21016.001 Neutral - 19 2765 19_20067---20067-001 Neutral - 19 2766 19_24158---24158-001 Neutral - 19 2767 19_11268---11268.001 Neutral - 19 2768 19_19206---19206.001 Neutral - 19 2769 19_19206---19206.002 Neutral - 19
4336G>A	c.4336G>A	15		p.Ala1446Thr		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2431 10_APC-095---1116P UV - 10
4345A>G	c.4345A>G	15		p.Lys1449Glu		Neutral	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3394 37_P09.3613935103954,1040 Neutral - 37 3395 37_P09.36946086467/93358 Neutral - 37
4348C>T	c.4348C>T	15		p.Arg1450X		Causal	unvalidated	00/00/00	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2683 10_APC-030---228P Causal - 10 2684 10_APC-164---2241P Causal - 10 2998 19_15077---15077.001 Causal - 19 2999 19_1619---1619.001 Causal - 19 3236 33_PSL2551---09-854 Causal - 33 3492 37_P01.09936--- Causal - 37 3848 SO_-80445574557 Causal - 71 4453 SO_-454G01597G01597 Causal - 71 5157 SO_-339G05659G05659 Causal - 71
4360A>G	c.4360A>G	15		p.Lys1454Glu		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2865 19_11618---11618.001 UV - 19
4372C>T	c.4372C>T	15		p.Pro1458Ser		UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3095 20_1192-01---3863 UV - 20 3096 20_1192-08---7793 UV - 20
4374T>A	c.4374T>A	15		p.Pro1458Pro		UV	French MMR network	25/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2771 19_11268---11268.001 UV - 19
4395T>A	c.4395T>A	15		p.Ser1465Arg		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2143 4_35826---35826 UV - 4
4420G>A	c.4420G>A	15		p.Ala1474Thr		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3983 7_9188811289E081456 UV - 7
4429C>T	c.4429C>T	15		p.Gln1477X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2976 19_13377---13399.001 Causal - 19 5570 7_-6134ILP0512707E051455 Causal - 7
4463T>G	c.4463T>G	15		p.Leu1488X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3237 33_PSL1436---08-034 Causal - 33 3536 SO_-79191 Causal - 71 3718 SO_-716121612 Causal - 71
4549C>T	c.4549C>T	15		p.Gln1517X		Causal	unvalidated	00/00/00	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2977 19_23157---23157-001 Causal - 19 3597 SO_-104395395 Causal - 71 3598 SO_-104396396 Causal - 71 3599 SO_-104397397 Causal - 71 3605 SO_-124452452 Causal - 71 4249 SO_-743G00580G00580 Causal - 71 4379 SO_-743G01237G01237 Causal - 71 4817 SO_-124G04071G04071 Causal - 71 4818 SO_-124G04073G04073 Causal - 71 5317 SO_-743G07245G07245 Causal - 71
4594G>A	c.4594G>A	15		p.Asp1532Asn		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5336 SO_-4980G07533G07533 UV - 71
4606G>T	c.4606G>T	15		p.Glu1536X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5151 SO_-179G05650G05650 Causal - 71
4616C>G	c.4616C>G	15		p.Ser1539X		Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4965 SO_-3602G04786G04786 Causal - 71 5507 7_-3602ILP0510462E050426 Causal - 7
4618G>T	c.4618G>T	15		p.Glu1540X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5598 7_-6310ILP0611108E060916 Causal - 7 5599 7_-6310ILP0611112E061326 Causal - 7 5600 7_-6310ILP0611113E061325 Causal - 7
4621C>T	c.4621C>T	15		p.Gln1541X		Causal	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2638 10_APC-153---1958P Causal - 10 2639 10_APC-153---2019P Causal - 10 5339 SO_-4993G07557G07557 Causal - 71
4700C>G	c.4700C>G	15		p.Ser1567X		Causal	unvalidated	00/00/00	12
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2372 4_38447---38447 Causal - 4 2373 4_25444---25444 Causal - 4 2374 4_38447---38449 Causal - 4 2375 4_25444---33622 Causal - 4 2376 4_25444---36576 Causal - 4 3098 20_3327-01---13185 Causal - 20 4431 SO_-621G01476G01476 Causal - 71 4432 SO_-621G01533G01533 Causal - 71 4433 SO_-621G01534G01534 Causal - 71 4434 SO_-621G01535G01535 Causal - 71 4435 SO_-621G01536G01536 Causal - 71 4436 SO_-621G01537G01537 Causal - 71
4706A>G	c.4706A>G	15		p.Asp1569Gly	Axin binding domain 1	UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3176 33_PSL416---06-126 UV - 33 3177 33_PSL416---08-1909 UV - 33
4709A>G	c.4709A>G	15		p.Asp1570Gly	Axin binding domain 1	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4068 7_98141010852E101136 UV - 7
4729G>T	c.4729G>T	15		p.Glu1577X	Axin binding domain 1	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2331 4_41281---41281 Causal - 4
4831C>T	c.4831C>T	15		p.Gln1611X		Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5475 SO_-4155GB6138GB6138 Causal - 71
4893T>C	c.4893T>C	15		p.Ser1631Ser		UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2738 19_11618---11618.001 UV - 19 2739 19_11618---11618.001 UV - 19
4905G>A	c.4905G>A	15		p.Gly1635Gly		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3396 37_P09.13909679492 UV - 37
4919G>A	c.4919G>A	15		p.Arg1640Gln		Likely Neutral	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5801 19_24250---24250.001 Likely Neutral - 19 2761 19_21206---21206-001 Likely Neutral - 19 2762 19_21206---21206-002 Likely Neutral - 19
4965A>G	c.4965A>G	15		p.Thr1655Thr	Beta-catenin degradation domai	UV	French MMR network	25/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3102 33_PSL1537---08-273 UV - 33
5009C>T	c.5009C>T	15		p.Ala1670Val		UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2880 19_13614---13614.001 UV - 19 2881 19_17991---17991.001 UV - 19
5026A>G	c.5026A>G	15		p.Arg1676Gly		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3175 33_PSL482---06-278 UV - 33
5208A>G	c.5208A>G	15		p.Lys1736Lys	Axin binding domain 2	Likely Neutral	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3100 33_SAT509---09-1693 Likely Neutral - 33
5265G>A	c.5265G>A	15		p.Ala1755Ala		UV	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2871 19_15551---15551.001 UV - 19 2872 19_21943---21943-001 UV - 19 2873 19_15551---15551.001 UV - 19 2874 19_19912---19912.001 UV - 19
5274T>A	c.5274T>A	15		p.Ser1758Ser		Neutral	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2978 19_20852---20852.001 Neutral - 19 2979 19_20852---20852.001 Neutral - 19 2980 19_15859---15859.001 Neutral - 19
5304G>A	c.5304G>A	15		p.Lys1768Lys		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2428 10_APC-056---644P UV - 10
5365G>A	c.5365G>A	15		p.Val1789Ile		UV	French MMR network	25/02/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2745 19_22319---22319-001 UV - 19 2746 19_22319---22319-001 UV - 19
5410G>C	c.5410G>C	15		p.Val1804Leu		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2149 4_35131---35131 UV - 4
5451A>G	c.5451A>G	15		p.Lys1817Lys		UV	French MMR network	25/03/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5846 10_------3175 P UV - 10
5465A>T	c.5465A>T	15		p.Asp1822Val		Neutral	unvalidated	00/00/00	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5831 19_2231922319-00122319-001 Neutral - 19 5832 19_2418824188-00124188-001 Neutral - 19 5833 19_2534825348-00125348-001 Neutral - 19
5572C>A	c.5572C>A	15		p.Arg1858Arg	Beta-catenin degradation domai	UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2433 10_APC-090---1011P UV - 10 3265 37_P08.34-E8338RNA UV - 37
5879C>T	c.5879C>T	15		p.Pro1960Leu	Beta-catenin degradation domai	UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2772 19_19205---19205.001 UV - 19 3109 33_PSL2575---09-916 UV - 33
5880A>G	c.5880A>G	15		p.Pro1960Pro	Beta-catenin degradation domai	Neutral	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5858 --- Neutral - 171
6108T>A	c.6108T>A	15		p.Asp2036Glu	Axin binding domain 3	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3089 20_1876-01---6293 UV - 20
6118C>T	c.6118C>T	15		p.Gln2040X	Axin binding domain 3	Causal	unvalidated	00/00/00	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3077 19_14423---14423.001 Causal - 19 3078 19_14423---14423.003 Causal - 19 3079 19_14423---14423.004 Causal - 19 3080 19_14423---14423.006 Causal - 19 3081 19_14423---14423.007 Causal - 19
6173G>A	c.6173G>A	15		p.Gly2058Asp		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5768 37_P13.42-E24760149144 UV - 37
6446A>C	c.6446A>C	15		p.His2149Pro		UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2445 10_APC-067---760p UV - 10
6679G>T	c.6679G>T	15		p.Gly2227Cys	Microtubule binding domain (ba	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5834 19_34833483-0013483-001 UV - 19
6680G>T	c.6680G>T	15		p.Gly2227Val	Microtubule binding domain (ba	UV	French MMR network	25/02/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2879 19_3483---3483.001 UV - 19
6709C>T	c.6709C>T	15		p.Arg2237X	Microtubule binding domain (ba	Causal	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2396 4_36700---36700 Causal - 4 2397 4_36700---40091 Causal - 4
6821C>T	c.6821C>T	15		p.Ala2274Val	Microtubule binding domain (ba	UV	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5802 19_23920---23920.001 UV - 19 2557 10_APC-057---657P UV - 10 3413 37_P02.041180--- UV - 37 5754 37_P12.1414781131235 UV - 37
6857C>T	c.6857C>T	15		p.Ala2286Val	Microtubule binding domain (ba	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5763 37_P13.29-E20953146399 UV - 37
6862C>T	c.6862C>T	15		p.Gln2288X	Microtubule binding domain (ba	Causal	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2645 10_APC-089---1005P Causal - 10
6921G>A	c.6921G>A	15		p.Ser2307Ser	Microtubule binding domain (ba	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2981 19_19707---19707.001 UV - 19
6947C>T	c.6947C>T	15		p.Pro2316Leu	Microtubule binding domain (ba	UV	French MMR network	25/03/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5853 10_------3266 P UV - 10
7109G>T	c.7109G>T	15		p.Gly2370Val	Microtubule binding domain (ba	UV	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2882 19_12252---12252.001 UV - 19 2883 19_18266---18266.001 UV - 19
7201C>T	c.7201C>T	15		p.Leu2401Leu	Microtubule binding domain (ba	Likely Neutral	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3068 19_21384---21384-001 Likely Neutral - 19 3069 19_21484---21484-001 Likely Neutral - 19 3070 19_21529---21529-001 Likely Neutral - 19 3071 19_21781---21781-001 Likely Neutral - 19
7290T>C	c.7290T>C	15		p.Asp2430Asp	Microtubule binding domain (ba	UV	French MMR network	4/03/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5815 19_26024---26024-001 UV - 19
7329C>T	c.7329C>T	15		p.Phe2443Phe	Microtubule binding domain (ba	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2702 10_APC-082---941P UV - 10
7399C>A	c.7399C>A	15		p.Pro2467Thr	Microtubule binding domain (ba	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3101 33_PSL482---06-278 UV - 33
7504G>A	c.7504G>A	15		p.Gly2502Ser	Microtubule binding domain (ba	Neutral	unvalidated	00/00/00	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5816 19_9798---9798.001 Neutral - 19 3271 37_P05.05-E3419--- Neutral - 37 3272 37_P08.076880--- Neutral - 37 3273 37_P03.08195819580 Neutral - 37
7553A>G	c.7553A>G	15		p.Asn2518Ser	Microtubule binding domain (ba	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5755 19_22079---22079-001 UV - 19
7621A>G	c.7621A>G	15		p.Ile2541Val	Microtubule binding domain (ba	Neutral	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3414 37_P09.1813116100825 Neutral - 37 3415 37_P09.18919380210 Neutral - 37
7704A>G	c.7704A>G	15		p.Gly2568Gly	Microtubule binding domain (ba	Neutral	French MMR network	25/03/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5817 19_26776---26776-001 Neutral - 19 5818 19_1611116111-00116111-001 Neutral - 19 3090 20_0910-01---2845 Neutral - 20
7720C>A	c.7720C>A	15		p.Leu2574Ile	Microtubule binding domain (ba	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2443 10_APC-104---1287P UV - 10
7862C>G	c.7862C>G	15		p.Ser2621Cys		Neutral	unvalidated	00/00/00	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2406 4_25979---25979 Neutral - 4 2701 10_APC-071---831P Neutral - 10 3065 19_23741---23741-001 Neutral - 19 3066 19_19208---19208.001 Neutral - 19 3246 33_SAT0278---08-104 Neutral - 33 3247 33_PSL2551---09-854 Neutral - 33 3506 37_P98.1324828 Neutral - 37 3507 37_P06.034075--- Neutral - 37 3508 37_P98.17213--- Neutral - 37 5526 7_-5974ILP0510959E050855 Neutral - 7
8068G>A	c.8068G>A	15		p.Ala2690Thr	EB1 & hDLG binding domain (C-t	Likely Neutral	unvalidated	00/00/00	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3249 33_SAT379---08-168 Likely Neutral - 33 3510 37_P08.01-E6738--- Likely Neutral - 37
8360A>G	c.8360A>G	15		p.Asn2787Ser	EB1 & hDLG binding domain (C-t	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2144 4_18797---18797 UV - 4
8445G>T	c.8445G>T	15		p.Lys2815Asn	EB1 & hDLG binding domain (C-t	UV	unvalidated	00/00/00	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2407 4_27151---27151 UV - 4