The UMD-MSH2 mutations database
Small deletions (322 records)

    Request ID: 501540171583

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
1delA	c.1delA	1		p.Met1?	Mismatch binding	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 244 5_2012081_2012001091_AAG2 Causal - 5 1090 37_L11.022_19412_128246 Causal - 37 1091 37_L11.022_19412_128960 Causal - 37 1092 37_L11.100_16702_133716 Causal - 37
20delA	c.20delA	1		p.Glu7GlyfsX57	Mismatch binding	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 70 2_02-DDM2931_19124_19124 Causal - 2 1075 33_TNN193__03-099 Causal - 33
66delC	c.66delC	1		p.Gln24ArgfsX40	Mismatch binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 852 19_11723_11723-001_11723- Causal - 19
73_100del	c.73_100del	1		p.Gly25CysfsX30	Mismatch binding	Causal	French MMR network	5/06/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2970 8_432807379908-653111EGS Causal - 8
82delG	c.82delG	1		p.Glu28ArgfsX36	Mismatch binding	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 340 5_2007360_20080819_AAC350 Causal - 5 2428 SO_-2638---G02259 Causal - 71 2506 SO_-2638---G04940 Causal - 71
110delT	c.110delT	1		p.Phe37SerfsX27	Mismatch binding	Causal	French MMR network	21/02/14	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1177 37_L05.32_3457_37179 Causal - 37 1178 37_L05.32_3976_42018 Causal - 37 1179 37_L05.32_4000_42212 Causal - 37 1180 37_L05.32_4088_43164 Causal - 37 1181 37_L05.32_4250_44409 Causal - 37 1182 37_L05.32_4469_46211 Causal - 37 1183 37_L05.32_6009_57295 Causal - 37 2847 37_L05.3221691139389 Causal - 37 3084 37_L05.3228045160963 Causal - 37
119delG	c.119delG	1		p.Gly40AlafsX24	Mismatch binding	Causal	French MMR network	21/02/14	15
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 401 8_32849_B052600_05-1970 Causal - 8 402 8_32849_B050033_05-0085 Causal - 8 403 8_32849_B050358_05-0262 Causal - 8 404 8_32849_B051752_05-1401 Causal - 8 405 8_32849_B051753_05-1402 Causal - 8 406 8_32849_B060349_06-0293 Causal - 8 407 8_F3853_81525_08-782221EG Causal - 8 2497 SO_-3544---G04310 Causal - 71 2657 SO_-3544---G07343 Causal - 71 2658 SO_-3544---G07344 Causal - 71 2934 4_11039258233604 Causal - 4 2990 8_328498883108-370331EGS Causal - 8 2991 8_F38538787408-687131EGS Causal - 8 3240 8_90929748208-518241 Causal - 8 3241 8_90929748108-618241 Causal - 8
126delC	c.126delC	1		p.Tyr43IlefsX21	Mismatch binding	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1204 37_L10.075_10344_102522 Causal - 37 1205 37_L10.075_19883_129972 Causal - 37 1206 37_L10.075_19883_130655 Causal - 37
129delT	c.129delT	1		p.Tyr43X	Mismatch binding	Causal	French MMR network	16/12/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2935 19_L10.07510344109756 Causal - 19 2936 19_L10.07515833112462 Causal - 19
131delC	c.131delC	1		p.Thr44ArgfsX20	Mismatch binding	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 164 4_Gr2008-76_21621_2362/24 Causal - 4 414 8_42913_69180_08-250111EG Causal - 8 415 8_42913_76757_08-513311EG Causal - 8
135_136delGC	c.135_136delGC	1		p.His46ArgfsX35	Mismatch binding	Causal	French MMR network	17/11/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3060 4_07173225052597 Causal - 4
163delC	c.163delC	1		p.Arg55GlyfsX9	Mismatch binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 976 31_H10_H10_1_H10_1_A Causal - 31
166delG	c.166delG	1		p.Glu56ArgfsX8	Mismatch binding	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 179 4_T04150_18205_1227 Causal - 4 362 6_604150_200404598_S7027 Causal - 6 714 19_11336_11336-001_11336- Causal - 19 987 31_H203_H203-2_H203-2A Causal - 31
187delG	c.187delG	1		p.Val63X	Mismatch binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 185 4_Gr2007-28_24705_3090 Causal - 4
229_230delAG	c.229_230delAG	2		p.Ser77CysfsX4	Mismatch binding	Causal	French MMR network	21/02/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1278 37_L04.01_2061_20826 Causal - 37 1279 37_L04.01_2060_20880 Causal - 37 1280 37_L04.01_2062_21085 Causal - 37 1281 37_L04.01_2535_27674 Causal - 37 1282 37_L04.01_20692_133170 Causal - 37 1283 37_L04.01_20692_134180 Causal - 37 2866 37_L04.0121106134890/135296 Causal - 37
239_240delTT	c.239_240delTT	2		p.Leu80GlnfsX2	Mismatch binding	Causal	French MMR network	5/06/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2958 4_JCS1023251183277 Causal - 4
260_264delCTTTT	c.260_264delCTTTT	2		p.Ser87CysfsX11	Mismatch binding	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 786 19_6918_6918-001_6918-001 Causal - 19 787 19_6918_6918-008_6918-008 Causal - 19
264delT	c.264delT	2		p.Phe88LeufsX2	Mismatch binding	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 444 8_42232_15041971_08-32700 Causal - 8 2411 SO_-2358---G01918 Causal - 71 3155 31_H1289H1289-2H1289-2B Causal - 31 3156 31_H1289H1289-3H1289-3B Causal - 31
279_281delTCT	c.279_281delTCT	2		p.Leu94del	Mismatch binding	UV	French MMR network	9/07/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 99 2_02-DDM6018_24616_24616 UV - 2 379 6_609051_B67182_S6550 UV - 6 445 8_F1020_B041236_04-0796 UV - 8
291delG	c.291delG	2		p.Gln97HisfsX77	Mismatch binding	Causal	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3251 8_454648370808-056141 Causal - 8
294_295delTA	c.294_295delTA	2		p.Tyr98X	Mismatch binding	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1882 7_-56693242E050539 Causal - 7 1973 7_-5669---E050899 Causal - 7 1974 7_-56694214E050902 Causal - 7 2801 SO_-5669---G08872 Causal - 71
297_298delAG	c.297_298delAG	2		p.Arg99SerfsX2	Mismatch binding	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2235 7_985010383E090428 Causal - 7 2236 7_985010383E090447 Causal - 7
339_340delGG	c.339_340delGG	2		p.Asn115X	Mismatch binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2738 SO_-5403---G08337 Causal - 71
347_350delATTG	c.347_350delATTG	2		p.Asp116GlyfsX57	Mismatch binding	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2594 SO_-4303---G06426 Causal - 71 2667 SO_-4303---G07554 Causal - 71
387_388delTC	c.387_388delTC	3		p.Gln130ValfsX2	Connector	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 216 4_CF956_---_--- Causal - 4 1029 31_H211_H211_1_H211_1_A Causal - 31
388_389delCA	c.388_389delCA	3		p.Gln130ValfsX2	Connector	Causal	French MMR network	22/06/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3166 37_L99.078798151707 Causal - 37 3167 37_L99.0726511155780 Causal - 37 3168 37_L99.0726528155797 Causal - 37
390_391delGT	c.390_391delGT	3		p.Gln130HisfsX2	Connector	Causal	French MMR network	21/02/14	16
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 217 4_HD25244_19604_1778 Causal - 4 332 5_2008462_20084742_AAC930 Causal - 5 380 6_605071_200500277_S6969 Causal - 6 1082 33_TNN 015_---_97-364 Causal - 33 1301 37_L99.07_581_567 Causal - 37 1302 37_L99.07_806_2025 Causal - 37 1303 37_L99.07_849_2794 Causal - 37 1304 37_L99.07_850_2795 Causal - 37 1305 37_L06.31_3258_43853 Causal - 37 1306 37_L06.31_5061_50477 Causal - 37 1307 37_L06.31_5063_50478 Causal - 37 1308 37_L06.31_5062_50682 Causal - 37 1309 37_L99.07_10435_87974 Causal - 37 1310 37_L06.31_3258_--- Causal - 37 2016 7_-6044---E051174 Causal - 7 2020 7_-60444487E051174 Causal - 7
439_440delGT	c.439_440delGT	3		p.Val147CysfsX4	Connector	Causal	French MMR network	25/03/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3170 4_Ni1401347995261 Causal - 4
449_522del	c.449_522del	3		p.Val150AlafsX3	Connector	Causal	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3239 19_1908919089-00119089-001 Causal - 19
453_454delAA	c.453_454delAA	3		p.Lys151AsnfsX5	Connector	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 813 19_8598_8598-001_8589-001 Causal - 19 814 19_8598_8598-002_8589-002 Causal - 19
454delA	c.454delA	3		p.Met152CysfsX22	Connector	Causal	French MMR network	21/02/14	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1312 37_L04.10_2211_22615 Causal - 37 1313 37_L04.10_3131_33787 Causal - 37 1314 37_L04.10_3132_33789 Causal - 37 1315 37_L04.10_3133_33790 Causal - 37 1316 37_L04.10_3135_33796 Causal - 37 1317 37_L08.049_6958_65993 Causal - 37 1318 37_L08.049_9112_79514 Causal - 37 3217 20_20-47794779-54--- Causal - 20
478_479delCA	c.478_479delCA	3		p.Gln160GlyfsX17	Connector	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 815 19_15011_15011-001_15011- Causal - 19
516_523del	c.516_523del	3		p.Lys172AsnfsX3	Connector	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 113 2_02-DDM8081_29268_29268 Causal - 2
528_529delTG	c.528_529delTG	3		p.Cys176X	Connector	Causal	French MMR network	21/02/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 221 4_CF264 - 23_---_--- Causal - 4 334 5_2008473_20073524_AAC967 Causal - 5 335 5_2008473_P0037745_AAD089 Causal - 5 822 19_6406_6406-001_6406-001 Causal - 19 823 19_6406_6406-002_6406-002 Causal - 19
536delC	c.536delC	3		p.Pro179LeufsX35	Connector	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 337 5_2005162_20052705_AAA794 Causal - 5
571_573delCTC	c.571_573delCTC	3		p.Leu191del	Connector	Causal	French MMR network	28/01/13	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 499 17_F06119_6003_--- Causal - 17 3172 17_130837917314001--- Causal - 17
574_610del	c.574_610del	3		p.Ile192GlufsX10	Connector	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 383 6_604004_198004722_S0571 Causal - 6 2758 SO_-5581---G08693 Causal - 71
597delT	c.597delT	3		p.Cys199TrpfsX15	Connector	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 384 6_600074_200600461_S4940 Causal - 6 2634 SO_-4724---G07066 Causal - 71
637delC	c.637delC	3		p.Leu213X	Connector	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1038 31_H459_H459-1_H459-1A Causal - 31
638_639delTG	c.638_639delTG	3		p.Leu213GlnfsX18	Connector	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 119 2_02-DDM6018_24616_24616 Causal - 2
687delA	c.687delA	4		p.Ala230LeufsX16	Connector	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 228 4_C97130_---_29 Causal - 4 2687 SO_-5122---G07818 Causal - 71
696_697delTT	c.696_697delTT	4		p.Ser233HisfsX22	Connector	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2671 SO_-5046---G07666 Causal - 71
711_714delTTAT	c.711_714delTTAT	4		p.Tyr238ArgfsX7	Connector	Causal	French MMR network	21/02/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 462 8_41935_13071964_08-30000 Causal - 8 463 8_41935_61153_08-952090EG Causal - 8 464 8_41935_85516_08-994031EG Causal - 8 3044 8_419359072208-341331EGS Causal - 8 3045 8_419359072108-241331EGS Causal - 8 3242 8_419359408808-450241 Causal - 8 3243 8_419359579808-700241 Causal - 8
746delA	c.746delA	4		p.Lys249ArgfsX5	Connector	Causal	French MMR network	21/02/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1042 31_H109_H109_1_H109_1_A Causal - 31 1043 31_H109_H109_3_H109_3_A Causal - 31 2747 SO_-5503---G08493 Causal - 71 2751 SO_-5503---G08538 Causal - 71 2820 SO_-5503---G08977 Causal - 71
749delG	c.749delG	4		p.Gly250GlufsX4	Connector	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2357 SO_-2088---G00872 Causal - 71
792delG	c.792delG	4		p.Val265LeufsX9	EXO1 stabilization	Causal	French MMR network	16/12/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2959 31_H1289H1289-1H1289-1A Causal - 31
803delC	c.803delC	5		p.Ser268TyrfsX6	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1648 7_4353 (04K223)2478E04060 Causal - 7
810_811delGT	c.810_811delGT	5		p.Ser271CysfsX12	EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 338 5_2004130_P0026391_AAA361 Causal - 5 339 5_2008471_20083288_AAC966 Causal - 5
811_814delTCTG	c.811_814delTCTG	5		p.Ser271ArgfsX2	EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1084 33_TNN 247__03-1124 Causal - 33 2552 SO_-3983---G05779 Causal - 71
812_813delCT	c.812_813delCT	5		p.Ser271CysfsX12	EXO1 stabilization	Causal	French MMR network	21/02/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 466 8_44989_80751_08-417121EG Causal - 8 869 19_12604_12604-001_12604- Causal - 19 870 19_12604_12604-005_12604- Causal - 19 3047 8_449896346108-117131EGS Causal - 8 3180 19_2801128011-00128011-001 Causal - 19 3181 19_1948719487-00219487-002 Causal - 19
847delG	c.847delG	5		p.Asp283IlefsX9	EXO1 stabilization	Causal	French MMR network	21/02/14	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 386 6_604149_200500046_--- Causal - 6 1826 7_-52663324E050211 Causal - 7 1883 7_-5266---E050542 Causal - 7 1884 7_-52663926E050542 Causal - 7 1885 7_-5266---E050544 Causal - 7 1886 7_-52663924E050544 Causal - 7 2608 SO_-4487---G06643 Causal - 71 2708 SO_-5266---G08073 Causal - 71 2835 SO_-4487---G09040 Causal - 71 2836 SO_-44873106G09040 Causal - 71
868_972del	c.868_972del	5		p.Glu290_Gln324del	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2467 SO_-3104---G03265 Causal - 71
870delA	c.870delA	5		p.Glu290AspfsX2	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2224 7_89859230E081109 Causal - 7
873_876delGACT	c.873_876delGACT	5		p.Thr292LeufsX8	EXO1 stabilization	Causal	French MMR network	21/02/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 236 4_C00159_---_704 Causal - 4 387 6_610045_20100621_S5475 Causal - 6 1052 31_H700_H700-1_H700-1A Causal - 31 1053 31_H700_H700-1_H700-1B Causal - 31 2597 SO_-4301---G06435 Causal - 71 2676 SO_-4301---G07735 Causal - 71 3185 37_L13.16820557150522 Causal - 37
925delG	c.925delG	5		p.Ala309ProfsX22	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 873 19_11668_11668-001_11668- Causal - 19
976_977delCT	c.976_977delCT	6		p.Leu326GlyfsX6	EXO1 stabilization	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 893 19_9442_9442-001_9442-001 Causal - 19 894 19_9442_9442-003_9442-003 Causal - 19 895 19_9442_9442-007_9442-007 Causal - 19 896 19_9442_9442-008_9442-008 Causal - 19
998_999delGT	c.998_999delGT	6		p.Cys333X	EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 897 19_11853_11853-001_11853- Causal - 19 898 19_11853_11853-003_11853- Causal - 19
1049_1050delTC	c.1049_1050delTC	6		p.Leu350HisfsX3	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 153 4_JCS0613_19343_1723 Causal - 4
1059delG	c.1059delG	6		p.Asn354ThrfsX3	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 609 19_15855_15855-001_15855- Causal - 19
1126_1127delTT	c.1126_1127delTT	7		p.Leu376ThrfsX12	Lever	Causal	French MMR network	11/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3224 4_CH00066357265415 Causal - 4
1221_1222delCT	c.1221_1222delCT	7		p.Tyr408SerfsX8	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 477 14_F0785_04C510_04C510 Causal - 14
1309delG	c.1309delG	8		p.Val437X	EXO1 stabilization	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 492 17_Paris-F9880_5001117_90 Causal - 17 2135 7_-6186---E060221 Causal - 7 2137 7_-61865037E060221 Causal - 7
1337_1338delAC	c.1337_1338delAC	8		p.Asp446ValfsX21	EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 357 6_608341_B00066846_S0632 Causal - 6 2938 4_JCS1009245873146 Causal - 4
1387_1400del	c.1387_1400del	9		p.Val463IlefsX8	EXO1 stabilization	Causal	French MMR network	21/02/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 171 4_T04095_18202_1223 Causal - 4 687 19_11376_11376-001_11376- Causal - 19 688 19_11376_11376-002_11376- Causal - 19 689 19_11376_11376-006_11376- Causal - 19 690 19_11376_11376-008_11376- Causal - 19
1394delA	c.1394delA	9		p.Asn465ThrfsX6	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2570 SO_-4128---G06095 Causal - 71
1435_1436delAG	c.1435_1436delAG	9		p.Ser479X	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2645 SO_-4822---G07233 Causal - 71
1463delT	c.1463delT	9		p.Leu488TrpfsX9	Clamp	Causal	French MMR network	29/08/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3002 19_2468124681.00124681.001 Causal - 19
1576delA	c.1576delA	10		p.Thr526ProfsX17	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 361 6_604003_200509366_S2650 Causal - 6
1585delG	c.1585delG	10		p.Glu529LysfsX14	EXO1 stabilization	Causal	French MMR network	21/02/14	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 420 8_43170_13021957_08-02501 Causal - 8 421 8_43170_81585_08-813221EG Causal - 8 1212 37_L07.001_11145_91813 Causal - 37 1213 37_L12.042_16966_134173 Causal - 37 1214 37_L12.042_16966_127614/1 Causal - 37 1215 37_F07.001_5133_--- Causal - 37 1888 7_-5421---E050558 Causal - 7 1889 7_-54214014E050558 Causal - 7 2739 SO_-5421---G08387 Causal - 71 3095 37_L13.10330816170276 Causal - 37
1613delA	c.1613delA	10		p.Asn538ThrfsX5	Clamp	Causal	French MMR network	5/06/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2942 31_H1290H1290-1H1290-1A Causal - 31 3096 37_L14.199-E29382165211 Causal - 37 3097 37_L14.199-E29384165213 Causal - 37
1627delG	c.1627delG	10		p.Asp543IlefsX14	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 422 8_43171_9031973_08-202201 Causal - 8
1673delC	c.1673delC	11		p.Ser558PhefsX2	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2331 SO_-1315---G00330 Causal - 71
1676delT	c.1676delT	11		p.Leu559X	EXO1 stabilization	Causal	French MMR network	21/02/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 715 19_17215_17215-001_17215- Causal - 19 1376 41_HNPCC036_HNPCC036001_- Causal - 41 2011 7_-6042---E051173 Causal - 7 2013 7_-60424485E051173 Causal - 7 2640 SO_-4778---G07163 Causal - 71 2943 8_F31991796608-500011BA Causal - 8
1700_1704delAAACA	c.1700_1704delAAACA	11		p.Lys567ArgfsX3	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 905 20_20-1542_1542-01_5024 Causal - 20
1705_1706delGA	c.1705_1706delGA	11		p.Glu569IlefsX2	EXO1 stabilization	Causal	French MMR network	21/02/14	12
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1068 33_TNN 149__02-817 Causal - 33 1377 41_HNPCC052_HNPCC052001_- Causal - 41 1378 41_HNPCC052_HNPCC052003_- Causal - 41 1379 41_HNPCC052_HNPCC052004_- Causal - 41 1380 41_HNPCC052_HNPCC052005_- Causal - 41 1381 41_HNPCC052_HNPCC052008_- Causal - 41 2399 SO_-2389---G01667 Causal - 71 2578 SO_-4192---G06229 Causal - 71 3055 31_H1746H1746-1H1746-1A Causal - 31 3102 19_1941319413-01519413-015 Causal - 19 3103 19_1941319413-01619413-016 Causal - 19 3206 2_02-PKO1372343357215114430 Causal - 2
1716delA	c.1716delA	11		p.Ala573ProfsX17	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 717 19_15422_15422-001_15422- Causal - 19
1753_1756delTCTT	c.1753_1756delTCTT	11		p.Ser585GlnfsX4	Lever	Causal	French MMR network	9/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3207 2_02-OCN1331642498215047440 Causal - 2
1783_1786delCTCA	c.1783_1786delCTCA	12		p.Leu595MetfsX4	EXO1 stabilization	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 481 14_F0880_04C324_04C324 Causal - 14 482 14_F0775_04C501_04C501 Causal - 14 483 14_F1112_05C910_05C910 Causal - 14 993 31_H1427_H1427-1_H1427-1A Causal - 31
1783_1787delCTCAA	c.1783_1787delCTCAA	12		p.Leu595X	EXO1 stabilization	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2612 SO_-4493---G06670 Causal - 71 2691 SO_-4493---G07858 Causal - 71 2726 SO_-5389---G08264 Causal - 71
1786_1788delAAT	c.1786_1788delAAT	12		p.Asn596del	EXO1 stabilization	Causal	French MMR network	10/01/12	17
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 182 4_97127_---_566 Causal - 4 183 4_JCS0903_19619_2623 Causal - 4 431 8_41852_16091970_08-59100 Causal - 8 484 14_34333_04C156_04C156-MM Causal - 14 732 19_15229_15229-001_15229- Causal - 19 733 19_2539_2539-001_2539-001 Causal - 19 734 19_8325_8325-001_8325-001 Causal - 19 932 25_10522_P10522_1_KPD59 Causal - 25 1219 37_L02.02_1085_6177 Causal - 37 1220 37_L02.02_5938_61851 Causal - 37 1221 37_L02.02_9845_83647 Causal - 37 2321 SO_-1265---G00208 Causal - 71 2332 SO_-1265---G00335 Causal - 71 2339 SO_-1867---G00625 Causal - 71 2407 SO_-1867---G01773 Causal - 71 2408 SO_-1867---G01774 Causal - 71 2547 SO_-1867---G05557 Causal - 71
1874delT	c.1874delT	12		p.Leu625TrpfsX10	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 995 31_H436_H436-2_H436-2A Causal - 31
1977delA	c.1977delA	12		p.Asp660IlefsX25	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2501 SO_-747---G04494 Causal - 71
1980_1981delTA	c.1980_1981delTA	12		p.Asp660GlufsX15	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 997 31_H367_H367-1_H367-1A Causal - 31
2014_2033del	c.2014_2033del	13		p.Met672TyrfsX20	ATP binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1389 41_HNPCC109_HNPCC109001_- Causal - 41
2016_2135del	c.2016_2135del	13		p.Met672_Val712delinsIle	ATP binding	Causal	French MMR network	16/12/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3062 41_HNPCC109HNPCC109001 Causal - 41
2055delA	c.2055delA	13		p.Ile685MetfsX25	ATP binding	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 760 19_8759_8759-001_8759-001 Causal - 19 761 19_8759_8759-007_8759-007 Causal - 19
2106_2135del	c.2106_2135del	13		p.Ser703_Val712del	ATPase	Likely Causal	French MMR network	9/07/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 71 2_PLP-HEGP EXT57_15605_15 Likely Causal - 2 1397 41_HNPCC109_HNPCC109001_- Likely Causal - 41
2166_2173del	c.2166_2173del	13		p.Ser723HisfsX3	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 202 4_CF1275_---_--- Causal - 4
2191delG	c.2191delG	13		p.Glu731LysfsX14	ATPase	Causal	French MMR network	21/02/14	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1360 38_18_A1_633 Causal - 38 1361 38_18_A2_1574 Causal - 38 1362 38_18_A3_1576 Causal - 38 1363 38_18_A4_1882 Causal - 38 2477 SO_-3204---G03430 Causal - 71 2523 SO_-3204---G05177 Causal - 71 2563 SO_-3204---G05986 Causal - 71 3027 19_2438224382-00124382-001 Causal - 19
2233_2243del	c.2233_2243del	14		p.Ile745X	ATPase	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 769 19_14104_14104-001_14104- Causal - 19 1750 7_-5801---E041035 Causal - 7 2119 7_-58012957E060150 Causal - 7
2235_2237delAAT	c.2235_2237delAAT	14		p.Ile746del	ATPase	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1400 41_HNPCC019_HNPCC019002_- UV - 41
2241delA	c.2241delA	14		p.Ile747MetfsX16	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 770 19_2938_2938-001_2938-001 Causal - 19
2254delA	c.2254delA	14		p.Arg752GlufsX11	ATPase	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1013 31_H1426_H1426-1_H1426-1A Causal - 31 3029 31_H1426H1426-3H1426-3A Causal - 31 3030 31_H1426H1426-4H1426-4A Causal - 31 3137 31_H1426H1426-5H1426-5A Causal - 31
2261delC	c.2261delC	14		p.Thr754IlefsX9	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 913 20_20-4326_---_4326-01 Causal - 20
2336delT	c.2336delT	14		p.Met779SerfsX33	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 779 19_11997_11997-001_11997- Causal - 19
2375delA	c.2375delA	14		p.Asn792IlefsX20	ATPase	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1014 31_H812_H812-1_H812-1A Causal - 31 1015 31_H812_H812-1_H812-1B Causal - 31
2428_2437del	c.2428_2437del	14		p.Thr810CysfsX5	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2223 7_85279192E081082 Causal - 7
2430_2431delCT	c.2430_2431delCT	14		p.Leu811AsnfsX12	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2247 7_1203912617E101320 Causal - 7
2499delT	c.2499delT	15		p.Ala834LeufsX7	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 785 19_14321_14321-001_14321- Causal - 19
2521delA	c.2521delA	15		p.Ile841X	ATPase	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 87 2_02-SG417-Cochin_2046_20 Causal - 2 1017 31_H224_H224_1_H224_1_A Causal - 31 1018 31_H224_H224-2_H224-2A Causal - 31 1019 31_H224_H224-2_H224-2B Causal - 31
2541_2547del	c.2541_2547del	15		p.Ala848AsnfsX42	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2421 SO_-2505---G02059 Causal - 71
2558delA	c.2558delA	15		p.Glu853GlyfsX39	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2376 SO_-403---G01450 Causal - 71
2576_2584del	c.2576_2584del	15		p.Glu859_Gln861del	Helix-turn-helix	UV	French MMR network	17/10/08	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 320 5_2007070_20070899_AAB618 UV - 5
2579_2592del	c.2579_2592del	15		p.Ser860TyrfsX17	Helix-turn-helix	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2253 7_1313014583E111688 Causal - 7 2259 7_1313015655E120559 Causal - 7
2581delC	c.2581delC	15		p.Gln861LysfsX31	Helix-turn-helix	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 92 2_02-DDM2895_19064_19064 Causal - 2
2633_2634delAG	c.2633_2634delAG	15		p.Glu878AlafsX3	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 321 5_2004041_P0024840_AAA113 Causal - 5 322 5_2004041_20050741_AAA622 Causal - 5 323 5_2004041_20013672_AAA882 Causal - 5 324 5_2004041_20062113_AAB216 Causal - 5 325 5_2004041_20062114_AAB222 Causal - 5 3235 19_2807228072-00128072-001 Causal - 19 3236 19_2807228072-00228072-002 Causal - 19
2641delG	c.2641delG	16		p.Glu881LysfsX11	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1022 31_H498_H498-1_H498-1A Causal - 31
2649_2654del	c.2649_2654del	16		p.Ile883_Gln885delinsMet	MSH3/MSH6 interaction	Causal	French MMR network	28/01/13	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 96 2_02-ACT2836_18901_18901 Causal - 2 97 2_02-ACT2836_18901_18901 Causal - 2 3035 2_02-ACT283639226214118445 Causal - 2 3036 2_02-ACT283639858214175421 Causal - 2 3037 2_02-ACT283639859214175423 Causal - 2
2662delC	c.2662delC	16		p.Leu888CysfsX4	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 214 4_C00034_---_415 Causal - 4 1023 31_H664_H664-1_H664-1A Causal - 31 3038 19_2645826458.00126458.001 Causal - 19 3054 31_H1720H1720-1H1720-1A Causal - 31 3157 19_2645826458-00226458-002 Causal - 19 3158 19_2645826458-00426458-004 Causal - 19 3159 19_2645826458-00326458-003 Causal - 19