The UMD-MSH2 mutations database
Variations with a biological significance = UV

    Request ID: 531789351663

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
1A>G	c.1A>G	1		p.Met1?	Mismatch binding	UV	French MMR network	29/08/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3009 19_2620826208-00126208-001 UV - 19
5C>T	c.5C>T	1		p.Ala2Val	Mismatch binding	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 500 17_F02009__4806 UV - 17
14C>G	c.14C>G	1		p.Pro5Arg	Mismatch binding	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2822 SO_-57383087G09004 UV - 71
35A>G	c.35A>G	1		p.Glu12Gly	Mismatch binding	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2717 SO_-53483133 (G08182)G081 UV - 71
38G>T	c.38G>T	1		p.Ser13Ile	Mismatch binding	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1871 7_-59283863E050478 UV - 7
62G>T	c.62G>T	1		p.Arg21Leu	Mismatch binding	UV	French MMR network	28/01/13	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 224 4_Gr2007-122_28317_4026 UV - 4
65T>G	c.65T>G	1		p.Phe22Cys	Mismatch binding	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1704 7_4517 (N0470)2680E040940 UV - 7
66C>T	c.66C>T	1		p.Phe22Phe	Mismatch binding	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2806 SO_-56793256G08882 UV - 71
72G>C	c.72G>C	1		p.Gln24His	Mismatch binding	UV	French MMR network	17/10/08	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1040 31_H586_H586-1_H586-1A UV - 31
74G>A	c.74G>A	1		p.Gly25Asp	Mismatch binding	UV	French MMR network	20/09/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2245 7_1150012096E100573 UV - 7
84G>A	c.84G>A	1		p.Glu28Glu	Mismatch binding	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1636 7_41672326E040509 UV - 7
97A>C	c.97A>C	1		p.Thr33Pro	Mismatch binding	UV	French MMR network	16/11/06	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2231 7_929210249E090236 UV - 7 2585 SO_-4276---G06289 UV - 71
97A>G	c.97A>G	1		p.Thr33Ala	Mismatch binding	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 243 4_13_17487_--- UV - 4
99A>G	c.99A>G	1		p.Thr33Thr	Mismatch binding	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2883 5_20130592013000539AAH262 UV - 5
113A>C	c.113A>C	1		p.Asp38Ala	Mismatch binding	UV	French MMR network	5/06/07	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 488 17_F01049__4727 UV - 17 489 17_F01 049_9600948_4727 UV - 17
120C>T	c.120C>T	1		p.Gly40Gly	Mismatch binding	UV	French MMR network	23/04/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3087 19_2520925209-00125209-001 UV - 19
127T>C	c.127T>C	1		p.Tyr43His	Mismatch binding	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2715 SO_-53483133 (G08182)G081 UV - 71
128A>G	c.128A>G	1		p.Tyr43Cys	Mismatch binding	UV	French MMR network	6/02/07	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 162 4_01G12_---_667 UV - 4 163 4_Nantes0466_---_--- UV - 4 929 25_7935_P7935_1_KPC8 UV - 25 971 31_H209_H209_1_H209_1_A UV - 31
138C>G	c.138C>G	1		p.His46Gln	Mismatch binding	UV	French MMR network	26/09/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3057 14_13C028913C0289 UV - 14
148G>A	c.148G>A	1		p.Ala50Thr	Mismatch binding	UV	French MMR network	5/06/07	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1639 7_42812412E040559 UV - 7 1641 7_42822413E040560 UV - 7 1655 7_43632498E040638 UV - 7 1657 7_20702505E040640 UV - 7 2282 7_1840263E2K242 UV - 7 2285 7_1841264E2K243 UV - 7 2288 7_1870265E2K244 UV - 7 2289 7_1568266E2K245 UV - 7 2298 7_1005283E2K266 UV - 7
157G>A	c.157G>A	1		p.Ala53Thr	Mismatch binding	UV	French MMR network	5/06/07	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1518 7_31161373E03038 UV - 7 1600 7_37011828E040033 UV - 7 1623 7_40352204E040427 UV - 7 2308 7_1141293E2K275 UV - 7
164G>A	c.164G>A	1		p.Arg55Gln	Mismatch binding	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 176 4_99090_19192_--- UV - 4
167A>C	c.167A>C	1		p.Glu56Ala	Mismatch binding	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2793 SO_-56603235G08830 UV - 71
182A>C	c.182A>C	1		p.Gln61Pro	Mismatch binding	UV	French MMR network	16/11/06	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 740 19_8884_8884-001_8884-001 UV - 19
198C>T	c.198C>T	1		p.Tyr66Tyr	Mismatch binding	UV	French MMR network	14/01/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 998 31_H982_H982-1_H982-1A UV - 31
203G>A	c.203G>A	1		p.Gly68Glu	Mismatch binding	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2861 5_2011736P0050450AAF988 UV - 5
271G>T	c.271G>T	2		p.Asp91Tyr	Mismatch binding	UV	French MMR network	5/06/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2960 41_HNPCC99HNPCC099001 UV - 41
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
281_282insTTT	c.281_282insTTT	2		p.Leu94dup	Mismatch binding	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2555 SO_-4001---G05800 UV - 71
289C>G	c.289C>G	2		p.Gln97Glu	Mismatch binding	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3040 19_2504225042-00125042-001 UV - 19
295A>C	c.295A>C	2		p.Arg99Arg	Mismatch binding	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2743 SO_-54773157 (G08462)G084 UV - 71
376G>A	c.376G>A	3		p.Gly126Ser	Connector	UV	French MMR network	17/10/08	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1024 31_H532_H532-1_H532-1A UV - 31
382C>G	c.382C>G	3		p.Leu128Val	Connector	UV	French MMR network	16/11/06	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1028 31_H230_H230_1_H230_1_A UV - 31
435T>G	c.435T>G	3		p.Ile145Met	Connector	UV	French MMR network	1/12/06	24
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 486 14_P05142_06C002_06C002 UV - 14 812 19_6990_6990-001_6990-001 UV - 19 1030 31_H219_H219_1_H219_1_A UV - 31 1031 31_H96_H96_1_H96_1_A UV - 31 1311 37_L08.035_6406_60840 UV - 37 1822 7_-11703309E050208 UV - 7 1823 7_-11703309E050208 UV - 7 1840 7_-1170---E050308 UV - 7 1841 7_-11703647E050308 UV - 7 1842 7_-11703647E050308 UV - 7 1843 7_-1170---E050309 UV - 7 1844 7_-11703646E050309 UV - 7 1845 7_-11703646E050309 UV - 7 1846 7_-1170---E050310 UV - 7 1847 7_-11703645E050310 UV - 7 1848 7_-11703645E050310 UV - 7 2163 7_55265232E060477 UV - 7 2325 SO_-1170---G00281 UV - 71 2410 SO_-1170---G01914 UV - 71 2412 SO_-1170---G01925 UV - 71 2413 SO_-1170---G01926 UV - 71 2446 SO_-1170---G02837 UV - 71 2761 SO_-1170---G08717 UV - 71 3169 17_120879416295001--- UV - 17
455T>C	c.455T>C	3		p.Met152Thr	Connector	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1319 37_L08.080_4812_--- UV - 37
470G>C	c.470G>C	3		p.Gly157Ala	Connector	UV	French MMR network	20/09/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2241 7_1084211339E092015 UV - 7
490G>A	c.490G>A	3		p.Gly164Arg	Connector	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2239 7_1029110681E090871 UV - 7
557A>G	c.557A>G	3		p.Asn186Ser	Connector	UV	French MMR network	20/09/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2246 7_503212139E100621 UV - 7
560T>G	c.560T>G	3		p.Leu187Arg	Connector	UV	French MMR network	16/11/06	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 223 4_96031_---_370 UV - 4 2444 SO_-2873---G02793 UV - 71 2461 SO_-2873---G03220 UV - 71 2462 SO_-2873---G03221 UV - 71 2481 SO_-2873---G03505 UV - 71 2532 SO_-2873---G05417 UV - 71
562G>C	c.562G>C	3		p.Glu188Gln	Connector	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 115 2_02-ACT3418_20435_20435 UV - 2
588A>G	c.588A>G	3		p.Pro196Pro	Connector	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2255 7_1435114970E112245 UV - 7
596G>A	c.596G>A	3		p.Cys199Tyr	Connector	UV	French MMR network	7/07/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1406 41_HNPCC463_HNPCC463001_2 UV - 41 2522 SO_-3765---G05172 UV - 71
601T>C	c.601T>C	3		p.Leu201Leu	Connector	UV	French MMR network	16/11/06	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2599 SO_-4410---G06526 UV - 71
613G>C	c.613G>C	3		p.Glu205Gln	Connector	UV	French MMR network	16/11/06	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2498 SO_-3572---G04319 UV - 71
631G>A	c.631G>A	3		p.Gly211Arg	Connector	UV	French MMR network	16/11/06	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2521 SO_-3758---G05163 UV - 71
639G>A	c.639G>A	3		p.Leu213Leu	Connector	UV	French MMR network	16/11/06	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2548 SO_-3901---G05563 UV - 71
640A>G	c.640A>G	3		p.Arg214Gly	Connector	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 120 2_02-DDM4088_27835_27835 UV - 2
698C>G	c.698C>G	4		p.Ser233Cys	Connector	UV	French MMR network	22/09/09	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 229 4_7284_20930_2214 UV - 4 230 4_7284_20930_2214 UV - 4
722T>G	c.722T>G	4		p.Leu241Arg	Connector	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1039 31_H281_1_A UV - 31
728G>A	c.728G>A	4		p.Arg243Gln	Connector	UV	French MMR network	13/12/11	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 231 4_02H05_17489_706 UV - 4 232 4_JCS0416_17876_1173 UV - 4 918 20_20-2700_2700-01_10235 UV - 20 919 20_20-2700_2700-45_--- UV - 20
734T>G	c.734T>G	4		p.Leu245Trp	Connector	UV	French MMR network	18/03/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1041 31_H743_H743-1_H743-1A UV - 31
741C>T	c.741C>T	4		p.Gly247Gly	Connector	UV	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1464 7_444453E01139 UV - 7
751G>C	c.751G>C	4		p.Glu251Gln	Connector	UV	French MMR network	16/11/06	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2600 SO_-4410---G06526 UV - 71
775C>T	c.775C>T	4		p.Pro259Ser	Connector	UV	French MMR network	16/11/06	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2395 SO_-503---G01560 UV - 71
790C>G	c.790C>G	4		p.Gln264Glu	EXO1 stabilization	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2218 7_6633 (-6453)6597E061750 UV - 7
806C>T	c.806C>T	5		p.Ser269Leu	EXO1 stabilization	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2915 19_2431824318.00124318.001 UV - 19
835C>G	c.835C>G	5		p.Leu279Val	EXO1 stabilization	UV	French MMR network	29/08/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3048 19_2425324253-00124253-001 UV - 19
875C>G	c.875C>G	5		p.Thr292Ser	EXO1 stabilization	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2889 19_2431824318.00124318.001 UV - 19
913G>A	c.913G>A	5		p.Ala305Thr	Lever	UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3233 19_2746127461-00127461-001 UV - 19
958A>G	c.958A>G	6		p.Thr320Ala	EXO1 stabilization	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2295 7_2398270E2K249 UV - 7
974C>T	c.974C>T	6		p.Ser325Phe	EXO1 stabilization	UV	French MMR network	5/06/07	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1061 31_H1487_H1487-1_H1487-1A UV - 31 1062 31_H1487_H1487-1_H1487-1A UV - 31 1444 7_2432353E01034 UV - 7 1569 7_26061429E03373 UV - 7 2305 7_1099289E2K272 UV - 7 2312 7_1347294E2K276 UV - 7
989T>C	c.989T>C	6		p.Leu330Pro	EXO1 stabilization	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2398 SO_-1308---G01571 UV - 71
991A>G	c.991A>G	6		p.Asn331Asp	EXO1 stabilization	UV	French MMR network	31/01/07	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1858 7_4850 (F421)3705E050346 UV - 7 2582 SO_-4251---G06261 UV - 71
998G>A	c.998G>A	6		p.Cys333Tyr	EXO1 stabilization	UV	French MMR network	31/01/07	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2326 SO_-1277---G00286 UV - 71 2358 SO_-1277---G00875 UV - 71 2359 SO_-1277---G00876 UV - 71 2360 SO_-1277---G00877 UV - 71 2562 SO_-4063---G05973 UV - 71 2838 SO_-4063---KS0753 UV - 71
1004C>A	c.1004C>A	6		p.Thr335Asn	Lever	UV	French MMR network	29/08/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2988 19_2481024810-00124810-001 UV - 19
1024G>A	c.1024G>A	6		p.Val342Ile	EXO1 stabilization	UV	French MMR network	9/07/15	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 4 2_02-DDM6020_24617_24617 UV - 2 149 4_CF1188_---_--- UV - 4 1570 7_35161651E03392 UV - 7 2543 SO_-3911---G05531 UV - 71
1025T>A	c.1025T>A	6		p.Val342Asp	Lever	UV	French MMR network	5/08/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3079 5_20137152013005662AAI443 UV - 5
1031A>C	c.1031A>C	6		p.Gln344Pro	EXO1 stabilization	UV	French MMR network	28/01/13	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 152 4_H12122_28229_3988 UV - 4
1043A>G	c.1043A>G	6		p.Gln348Arg	EXO1 stabilization	UV	French MMR network	31/01/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2665 SO_-4955---G07473 UV - 71
1045C>G	c.1045C>G	6		p.Pro349Ala	EXO1 stabilization	UV	French MMR network	9/07/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 956 31_H906_H906-1_H906-1A UV - 31 1367 41_HNPCC463_HNPCC463001_2 UV - 41
1046C>T	c.1046C>T	6		p.Pro349Leu	EXO1 stabilization	UV	French MMR network	6/05/07	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 246 5_2001168_20001550_AAA955 UV - 5 2844 5_200116820001550AAA955 UV - 5
1050C>T	c.1050C>T	6		p.Leu350Leu	Lever	UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3234 19_2856428564-00128564-001 UV - 19
1083T>C	c.1083T>C	7		p.Asn361Asn	EXO1 stabilization	UV	French MMR network	22/09/09	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 959 31_H633_H633-1_H633-1A UV - 31
1091A>C	c.1091A>C	7		p.Glu364Ala	Lever	UV	French MMR network	23/04/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3083 19_2566825668.00125668.001 UV - 19
1131A>G	c.1131A>G	7		p.Gln377Gln	EXO1 stabilization	UV	French MMR network	16/01/12	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 11 2_DDM6663_26067_26067 UV - 2
1144C>T	c.1144C>T	7		p.Arg382Cys	EXO1 stabilization	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 158 4_JCS0407_17809_1093 UV - 4
1159C>G	c.1159C>G	7		p.Leu387Val	EXO1 stabilization	UV	French MMR network	13/05/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 12 2_02-DDM3140_19624_19624 UV - 2 260 5_2007265_20073037_AAB908 UV - 5
1244C>T	c.1244C>T	7		p.Pro415Leu	EXO1 stabilization	UV	French MMR network	18/03/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 900 20_20-2284_2284-01_--- UV - 20
1379T>A	c.1379T>A	8		p.Met460Lys	Clamp	UV	French MMR network	24/06/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3091 17_131655217354001--- UV - 17 3214 20_20-45854585-01--- UV - 20
1409T>A	c.1409T>A	9		p.Val470Glu	EXO1 stabilization	UV	French MMR network	13/05/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1210 37_L10.001_10957_91183 UV - 37 2225 7_94489740E081790 UV - 7 2721 SO_-5363---G08230 UV - 71
1413A>C	c.1413A>C	9		p.Lys471Asn	EXO1 stabilization	UV	French MMR network	18/09/09	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2228 7_978010153E090109 UV - 7 2229 7_978010153E090109 UV - 7
1498G>C	c.1498G>C	9		p.Ala500Pro	Clamp	UV	French MMR network	5/08/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3093 5_20143282013005107AAJ225 UV - 5
1563T>C	c.1563T>C	10		p.Tyr521Tyr	EXO1 stabilization	UV	French MMR network	16/01/12	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 975 31_H1114_H1114-1_H1114-1A UV - 31
1570C>T	c.1570C>T	10		p.Arg524Cys	EXO1 stabilization	UV	French MMR network	18/09/09	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2232 7_539010293E090318 UV - 7
1588G>A	c.1588G>A	10		p.Glu530Lys	EXO1 stabilization	UV	French MMR network	31/01/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2639 SO_-4757---G07125 UV - 71
1614C>T	c.1614C>T	10		p.Asn538Asn	EXO1 stabilization	UV	French MMR network	18/09/09	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2226 7_95309883E082019 UV - 7 2227 7_95309883E082019 UV - 7
1642G>T	c.1642G>T	10		p.Gly548Cys	EXO1 stabilization	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 175 4_B9814_---_--- UV - 4
1643G>A	c.1643G>A	10		p.Gly548Asp	EXO1 stabilization	UV	French MMR network	26/03/12	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 41 2_02-ACT1727_13913_13913 UV - 2
1669A>C	c.1669A>C	11		p.Thr557Pro	EXO1 stabilization	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2475 SO_-3161---G03352 UV - 71
1680T>G	c.1680T>G	11		p.Asn560Lys	EXO1 stabilization	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 989 31_H207_H207-1_H207-1A UV - 31
1681G>A	c.1681G>A	11		p.Glu561Lys	EXO1 stabilization	UV	French MMR network	6/06/07	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 50 2_02-ACT1727_13913_13913 UV - 2 180 4_98H02_---_385 UV - 4
1698T>C	c.1698T>C	11		p.Asn566Asn	EXO1 stabilization	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 283 5_2004007_P0024538_AAA051 UV - 5
1701A>T	c.1701A>T	11		p.Lys567Asn	EXO1 stabilization	UV	French MMR network	18/09/09	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 363 6_606099_199401479_S3063 UV - 6
1706A>G	c.1706A>G	11		p.Glu569Gly	EXO1 stabilization	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 51 2_02-DDM6790_26629_26629 UV - 2
1730T>C	c.1730T>C	11		p.Ile577Thr	EXO1 stabilization	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 494 17_F05165__5636 UV - 17
1748A>G	c.1748A>G	11		p.Asn583Ser	EXO1 stabilization	UV	French MMR network	6/06/07	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 181 4_CH1001_24176_2967 UV - 4 1503 7_15101119E02372 UV - 7 1833 7_48043609E050259 UV - 7
1787A>G	c.1787A>G	12		p.Asn596Ser	Lever	UV	French MMR network	7/07/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3248 8_480539275608-140241 UV - 8 2494 SO_-3427---G03842 UV - 71
1790A>G	c.1790A>G	12		p.Asp597Gly	EXO1 stabilization	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 735 19_12180_12180-001_12180- UV - 19
1805T>C	c.1805T>C	12		p.Leu602Pro	Lever	UV	French MMR network	6/06/07	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 736 19_3154_3154-001_3154-001 UV - 19 737 19_3154_3154-002_3154-002 UV - 19
1810G>C	c.1810G>C	12		p.Ala604Pro	Lever	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2858 2_02-DDM737427589211010429 UV - 2
1828C>A	c.1828C>A	12		p.His610Asn	Lever	UV	French MMR network	6/06/07	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 994 31_H156_H156_1_H156_1_A UV - 31 2571 SO_-4139---G06106 UV - 71
1832T>C	c.1832T>C	12		p.Val611Ala	Lever	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 184 4_JCS1216_28477_4103 UV - 4
1847C>G	c.1847C>G	12		p.Pro616Arg	EXO1 interaction	UV	French MMR network	11/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3105 28346_28346-00128346-001 UV - 19
1861C>G	c.1861C>G	12		p.Arg621Gly	ATPase	UV	French MMR network	22/04/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3106 4_JCS1421352115331 UV - 4
1862G>A	c.1862G>A	12		p.Arg621Gln	ATPase	UV	French MMR network	19/03/09	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2349 SO_-896---G00805 UV - 71 2365 SO_-896---G01054 UV - 71 2393 SO_-896---G01552 UV - 71
1865C>T	c.1865C>T	12		p.Pro622Leu	ATPase	UV	French MMR network	22/06/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3110 37_L14.23529969167426 UV - 37 3111 37_L14.23527879167425 UV - 37 3112 37_L14.23529971167427 UV - 37
1881A>C	c.1881A>C	12		p.Lys627Asn	ATPase	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 186 4_B9707_---_--- UV - 4
1912A>G	c.1912A>G	12		p.Arg638Gly	ATPase	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1228 37_L05.06_2029_30741 UV - 37
1916A>T	c.1916A>T	12		p.His639Leu	ATPase	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 59 2_02-ACT2613_18320_18320 UV - 2
1938T>C	c.1938T>C	12		p.Asp646Asp	ATPase	UV	French MMR network	24/06/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3115 17_131437516966002--- UV - 17
1963G>A	c.1963G>A	12		p.Val655Ile	ATPase	UV	French MMR network	18/03/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 907 20_20-1246_1246-72_--- UV - 20
1967A>G	c.1967A>G	12		p.Tyr656Cys	ATPase	UV	French MMR network	6/06/07	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1485 7_1255663E02104 UV - 7 1521 7_1255663E03041 UV - 7 2302 7_1255285E2K268 UV - 7 2496 SO_1255---G04242 UV - 71
2009C>T	c.2009C>T	13		p.Pro670Leu	ATP binding	UV	French MMR network	9/07/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 65 2_02-NJ21_718_718 UV - 2 910 20_20-2819_2819-02_12049 UV - 20
2011A>T	c.2011A>T	13		p.Asn671Tyr	ATP binding	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2627 SO_-4631---G06969 UV - 71
2012A>T	c.2012A>T	13		p.Asn671Ile	ATP binding	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 66 2_02-DDM9126_31068_31068 UV - 2
2038C>A	c.2038C>A	13		p.Arg680Arg	ATP binding	UV	French MMR network	16/12/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2950 4_JCS1102240213403 UV - 4 2951 4_11165266403652 UV - 4 2952 4_BCR1108273493752 UV - 4 2953 5_2011542P0049230AAF694 UV - 5
2089T>G	c.2089T>G	13		p.Cys697Gly	ATPase	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 198 4_96156_---_442 UV - 4
2090G>A	c.2090G>A	13		p.Cys697Tyr	ATPase	UV	French MMR network	19/03/09	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 199 4_Di0702_20134_1949 UV - 4
2095T>C	c.2095T>C	13		p.Ser699Pro	ATPase	UV	French MMR network	5/06/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2954 4_JCS1026254443356 UV - 4
2111T>C	c.2111T>C	13		p.Ile704Thr	ATPase	UV	French MMR network	20/09/10	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 200 4_BCR0910_23796_2890 UV - 4 201 4_BCR1004_24264_3039 UV - 4
2132G>A	c.2132G>A	13		p.Arg711Gln	ATPase	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3124 19_1985319853-00119853-001 UV - 19
2137G>C	c.2137G>C	13		p.Gly713Arg	ATPase	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2864 5_20130592013000539AAH262 UV - 5
2139G>T	c.2139G>T	13		p.Gly713Gly	ATPase	UV	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2244 7_1132011923E100358 UV - 7
2164G>A	c.2164G>A	13		p.Val722Ile	ATPase	UV	French MMR network	28/04/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 79 2_02-DDM7842_29471_29471 UV - 2 3126 17_940850816674001--- UV - 17
2227T>G	c.2227T>G	14		p.Ser743Ala	ATPase	UV	French MMR network	7/07/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1399 41_HNPCC399_HNPCC399001_- UV - 41
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
2235_2237dup	c.2235_2237dup	14		p.Ile746_Ile746dup	ATPase	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2492 SO_-3349---G03721 UV - 71
2251G>A	c.2251G>A	14		p.Gly751Arg	ATPase	UV	French MMR network	13/12/11	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 84 2_02-MFA3151_1906_1906 UV - 2 2217 7_5710 (-4307)2839E060912 UV - 7
2271C>T	c.2271C>T	14		p.Tyr757Tyr	ATPase	UV	French MMR network	7/07/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2220 7_7797 (07045)7966E071579 UV - 7
2314A>C	c.2314A>C	14		p.Thr772Pro	ATPase	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2572 SO_-4141---G06111 UV - 71
2362A>C	c.2362A>C	14		p.Thr788Pro	ATPase	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 317 5_2006050_20060630_AAB036 UV - 5
2380A>C	c.2380A>C	14		p.Ile794Leu	ATPase	UV	French MMR network	16/01/12	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 914 20_20-3699_3699-01_14192 UV - 20
2425G>A	c.2425G>A	14		p.Glu809Lys	ATPase	UV	French MMR network	24/06/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3138 17_130457716416001--- UV - 17
2442T>C	c.2442T>C	14		p.Leu814Leu	ATPase	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 442 8_44224_78075_08-797021EG UV - 8
2443T>G	c.2443T>G	14		p.Tyr815Asp	ATPase	UV	French MMR network	26/09/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3059 1075 UV - 38
2467G>C	c.2467G>C	15		p.Asp823His	ATPase	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1016 31_H128_H128_1_H128_1_A UV - 31
2503A>G	c.2503A>G	15		p.Asn835Asp	ATPase	UV	French MMR network	20/09/10	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 211 4_JCS0926_23725_2882 UV - 4 3141 37_L12.12220869134963 UV - 37
2517T>A	c.2517T>A	15		p.His839Gln	ATPase	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2705 SO_-5215---G07950 UV - 71
2546T>G	c.2546T>G	15		p.Leu849Arg	ATPase	UV	French MMR network	6/06/07	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1447 7_1978406E01057 UV - 7 1659 7_20702505E040640 UV - 7 2301 7_1030284E2K267 UV - 7 2311 7_1141293E2K275 UV - 7
2558A>G	c.2558A>G	15		p.Glu853Gly	ATPase	UV	French MMR network	9/07/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2334 SO_-1296---G00341 UV - 71 2363 SO_-1296---G01051 UV - 71
2567A>G	c.2567A>G	15		p.Tyr856Cys	Helix-turn-helix	UV	French MMR network	22/09/09	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1081 33_PSL 440__06-175 UV - 33
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
2580G>A	c.2580G>A	15		p.Ser860Ser	Helix-turn-helix	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2221 7_85728848E080628 UV - 7
2581C>G	c.2581C>G	15		p.Gln861Glu	Helix-turn-helix	UV	French MMR network	18/09/09	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 375 6_606253_200606528_S0332 UV - 6
2582A>T	c.2582A>T	15		p.Gln861Leu	Helix-turn-helix	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1813 7_47583567E050161 UV - 7
2606C>A	c.2606C>A	15		p.Ala869Glu	Helix-turn-helix	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 788 19_6990_6990-001_6990-001 UV - 19
2634G>C	c.2634G>C	15		p.Glu878Asp	MSH3/MSH6 interaction	UV	French MMR network	29/08/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3032 19_2904429044-00129044-001 UV - 19
2656G>A	c.2656G>A	16		p.Glu886Lys	MSH3/MSH6 interaction	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2873 2_02-DDM978032693212226442 UV - 2
2681T>C	c.2681T>C	16		p.Met894Thr	MSH3/MSH6 interaction	UV	French MMR network	22/05/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2916 19_2361623616.00123616.001 UV - 19 3160 5_201401420094561AAI636 UV - 5
2681T>G	c.2681T>G	16		p.Met894Arg	MSH3/MSH6 interaction	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 378 6_608272_B66650_S7840 UV - 6
2714C>T	c.2714C>T	16		p.Thr905Ile	MSH3/MSH6 interaction	UV	French MMR network	16/12/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3058 41_HNPCC383HNPCC383001 UV - 41
2728C>A	c.2728C>A	16		p.Gln910Lys	MSH3/MSH6 interaction	UV	French MMR network	21/09/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 328 5_2009236_20092612_AAD369 UV - 5
2739T>C	c.2739T>C	16		p.Ala913Ala	MSH3/MSH6 interaction	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2679 SO_-5070---G07760 UV - 71
2756A>G	c.2756A>G	16		p.Asn919Ser	MSH3/MSH6 interaction	UV	French MMR network	6/06/07	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1449 7_1793405E01058 UV - 7 2519 SO_1793---G05097 UV - 71
2766T>G	c.2766T>G	16		p.Phe922Leu	MSH3/MSH6 interaction	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1522 7_2959858E03057 UV - 7
2777T>A	c.2777T>A	16		p.Ile926Asn	MSH3/MSH6 interaction	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2874 31_H1542H1542-1H1542-1A UV - 31
2801C>A	c.2801C>A	16		p.Thr934Lys	MSH3/MSH6 interaction	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2024 7_-60814447E051175 UV - 7
2802G>A	c.2802G>A	16		p.Thr934Thr	MSH3/MSH6 interaction	UV	French MMR network	5/06/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2961 41_HNPCC99HNPCC099001 UV - 41