The UMD-APC mutations database
Missense mutations (326 records)

    Request ID: 636748563

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
		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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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