The UMD-MSH2 mutations database
Missense mutations (777 records)

    Request ID: 531782356607

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
1A>C	c.1A>C	1		p.Met1?	Mismatch binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2377 SO_-421---G01452 Causal - 71
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
4G>A	c.4G>A	1		p.Ala2Thr	Mismatch binding	Neutral	French MMR network	9/07/15	30
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 109 2_02-DDM3350_11334_11334 Neutral - 2 110 2_02-DDM3350_11334_11334 Neutral - 2 111 2_02-DDM2685_18529_18529 Neutral - 2 112 2_02-DDM2685_18529_18529 Neutral - 2 219 4_NI4001_---_--- Neutral - 4 333 5_2012081_2012001091_AAG2 Neutral - 5 449 8_31408_14111965_08-10508 Neutral - 8 818 19_10032_10032-001_10032- Neutral - 19 819 19_10032_10032-002_10032- Neutral - 19 820 19_10032_10032-004_10032- Neutral - 19 821 19_10032_10032-006_10032- Neutral - 19 2404 SO_-2419---G01753 Neutral - 71 2533 SO_-2419---G05437 Neutral - 71 2540 SO_-3855---G05480 Neutral - 71 2564 SO_-2419---G06024 Neutral - 71 2565 SO_-2419---G06025 Neutral - 71 2593 SO_-2419---G06418 Neutral - 71 2613 SO_-4508---G06718 Neutral - 71 2624 SO_-2419---G06935 Neutral - 71 2625 SO_-2419---G06948 Neutral - 71 2651 SO_-2419---G07269 Neutral - 71 2668 SO_-2419---G07571 Neutral - 71 2669 SO_-2419---G07572 Neutral - 71 2680 SO_-5071---G07761 Neutral - 71 2712 SO_-3855---G08157 Neutral - 71 2718 SO_-2419---G08195 Neutral - 71 2724 SO_-2419---G08252 Neutral - 71 2833 SO_-50713101G09034 Neutral - 71 2876 5_201163019924483AAF832 Neutral - 5 2877 2_02-DDM335011334200313403 Neutral - 2
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
7G>T	c.7G>T	1		p.Val3Leu	Mismatch binding	Likely Neutral	French MMR network	13/12/11	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 465 8_36202_B061239_06-0117 Likely Neutral - 8 2201 7_-6279---E060758 Likely Neutral - 7 2972 8_1787499608-750021BA Likely Neutral - 8
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
23C>T	c.23C>T	1		p.Thr8Met	Mismatch binding	Likely Neutral	French MMR network	13/05/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1484 7_2153257E02103 Likely Neutral - 7 1490 7_2153746E02148 Likely Neutral - 7 1491 7_2153750E02149 Likely Neutral - 7 1492 7_2153747E02151 Likely Neutral - 7 1565 7_2153747E03351 Likely Neutral - 7 1566 7_2153746E03352 Likely Neutral - 7 2493 SO_2153---G03817 Likely Neutral - 71
28C>A	c.28C>A	1		p.Gln10Lys	Mismatch binding	Likely Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2508 SO_2124---G04951 Likely Neutral - 71
30G>A	c.30G>A	1		p.Gln10Gln	Mismatch binding	Likely Neutral	French MMR network	7/07/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 916 20_20-3124_3124-01_12479 Likely Neutral - 20
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
55T>C	c.55T>C	1		p.Phe19Leu	Mismatch binding	Likely Neutral	French MMR network	13/05/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2655 SO_-4866---G07330 Likely Neutral - 71
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
205C>T	c.205C>T	1		p.Pro69Ser	Mismatch binding	Likely Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 194 4_JCS0811_20451_2322 Likely Neutral - 4
207G>C	c.207G>C	1		p.Pro69Pro	Mismatch binding	Likely Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2577 SO_-4176---G06216 Likely Neutral - 71
213A>G	c.213A>G	1-2		p.Gly71Gly	Mismatch binding	Neutral	French MMR network	28/01/13	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2237 7_998710390E090456 Neutral - 7
252T>C	c.252T>C	2		p.Asn84Asn	Mismatch binding	Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 88 2_PLP HEGP EXT99_19272_19 Neutral - 2
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
274C>G	c.274C>G	2		p.Leu92Val	Mismatch binding	Likely Neutral	French MMR network	7/07/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3039 25_HCC-3385141046AML36 Likely Neutral - 25
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
317G>A	c.317G>A	2		p.Arg106Lys	Mismatch binding	Likely Neutral	French MMR network	13/05/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2148 7_54655106E060276 Likely Neutral - 7
336C>A	c.336C>A	2		p.Ser112Ser	Mismatch binding	Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 799 19_14769_14769-001_14769- Neutral - 19
339G>A	c.339G>A	2		p.Lys113Lys	Mismatch binding	Neutral	French MMR network	19/03/09	12
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 100 2_02-ACT2016_14895_14895 Neutral - 2 101 2_02-ACT2850_19248_19248 Neutral - 2 498 17_F09 010_502372_7120 Neutral - 17 917 20_20-1503_1503-14_5054 Neutral - 20 1770 7_37072788E041170 Neutral - 7 1864 7_-45833738E050383 Neutral - 7 2035 7_50944534E051311 Neutral - 7 2108 7_5389 (05K267)4961E06010 Neutral - 7 2166 7_5451 (F585)5295E060597 Neutral - 7 2233 7_994010348E090370 Neutral - 7 2234 7_994010348E090370 Neutral - 7 3162 19_2587025870-00125870-001 Neutral - 19
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
380A>G	c.380A>G	3		p.Asn127Ser	Connector	Neutral	French MMR network	29/11/06	23
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 105 2_02-ACT1936_14831_14831 Neutral - 2 106 2_PLP-HEGP EXT53_15561_15 Neutral - 2 107 2_02-ACT3108_16165_16165 Neutral - 2 108 2_02-DDM2676_18508_18508 Neutral - 2 331 5_2009386_20094381_AAD774 Neutral - 5 1025 31_H143_H143_1_H143_1_A Neutral - 31 1026 31_H151_H151_1_H151_1_A Neutral - 31 1027 31_H9_H9_1_H9_1_A Neutral - 31 1721 7_-5820---E041003 Neutral - 7 1725 7_-58203009E041003 Neutral - 7 1910 7_-59624002E050594 Neutral - 7 2065 7_-61394786E051512 Neutral - 7 2118 7_-61814987E060133 Neutral - 7 2174 7_5616 (F600)5340E060640 Neutral - 7 2445 SO_-2682---G02826 Neutral - 71 2618 SO_-4556---G06808 Neutral - 71 2619 SO_-4075---G06838 Neutral - 71 2629 SO_-4654---G07000 Neutral - 71 2731 SO_-5440---G08310 Neutral - 71 2735 SO_-54403899G08310 Neutral - 71 2888 19_1759417594.00117594.001 Neutral - 19 2910 19_2413024130.00124130.001 Neutral - 19 3165 37_P08.14717667677 Neutral - 37
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
484G>A	c.484G>A	3		p.Gly162Arg	Connector	Likely Causal	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 218 4_JCS0618_19428_1860 Likely Causal - 4
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
499G>C	c.499G>C	3		p.Asp167His	Connector	Neutral	French MMR network	9/07/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1033 31_H209_H209_1_H209_1_A Neutral - 31 2051 7_49184715E051443 Neutral - 7 2967 8_F28276556108-338290EGS Neutral - 8
518T>C	c.518T>C	3		p.Leu173Pro	Connector	Causal	French MMR network	9/07/15	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 455 8_34437_B051630_05-1310 Causal - 8 456 8_34437_B052702_ARN G1 - Causal - 8 457 8_34876_11081924_B051630 Causal - 8 3171 17_122062318198001--- Causal - 17
518T>G	c.518T>G	3		p.Leu173Arg	Connector	Likely Causal	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1320 37_L09.038_9519_83445 Likely Causal - 37
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
573C>T	c.573C>T	3		p.Leu191Leu	Connector	Neutral	French MMR network	16/11/06	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 116 2_02-ACT2284_15564_15564 Neutral - 2 117 2_02-ACT2375_15772_15772 Neutral - 2 118 2_02-ACT3042_19355_19355 Neutral - 2 1083 33_PSL 669__06-760 Neutral - 33 1321 37_F06.099_4093_--- Neutral - 37 2240 7_1049910944E091207 Neutral - 7 3173 17_120891017231001--- Neutral - 17
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
595T>C	c.595T>C	3		p.Cys199Arg	Connector	Causal	French MMR network	16/11/06	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 458 8_F862_B032771_G2-Nç128 Causal - 8 459 8_F862_B032698_G2-Nç141 Causal - 8 460 8_F862_B032703_G2-Nç42 Causal - 8 824 19_8071_8071-001_8071-001 Causal - 19
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
756G>T	c.756G>T	4		p.Gln252His	Connector	Neutral	French MMR network	28/01/13	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2486 SO_-3200---G03554 Neutral - 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
815C>T	c.815C>T	5		p.Ala272Val	EXO1 stabilization	Neutral	French MMR network	22/09/09	11
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 235 4_Gr2005-12_18342_1335 Neutral - 4 1045 31_H126_H126_1_H126_1_A Neutral - 31 1046 31_H98_H98_1_H98_1_A Neutral - 31 1047 31_H98_H98_2_H98_2_A Neutral - 31 1048 31_H98_H98_4_H98_4_A Neutral - 31 1049 31_H98_H98_6_H98_6_A Neutral - 31 1050 31_H98_H98_7_H98_7_A Neutral - 31 1085 33_PSL 252__05-354 Neutral - 33 1331 37_L09.038_9519_83445 Neutral - 37 1545 7_12901527E03264 Neutral - 7 2583 SO_-4252---G06263 Neutral - 71
832G>A	c.832G>A	5		p.Glu278Lys	EXO1 stabilization	Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 127 2_02-DDM3432_20457_20457 Neutral - 2
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
843A>T	c.843A>T	5		p.Ser281Ser	EXO1 stabilization	Neutral	French MMR network	9/07/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1051 31_H1203_H1203-1_H1203-1A Neutral - 31 2973 41_HNPCC390HNPCC390001 Neutral - 41 3183 17_131637817617001--- Neutral - 17
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
885C>G	c.885C>G	5		p.Asp295Glu	EXO1 stabilization	Likely Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 872 19_15422_15422-001_15422- Likely Neutral - 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
965G>A	c.965G>A	6		p.Gly322Asp	EXO1 stabilization	Neutral	French MMR network	31/01/07	46
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 134 2_02-ACT1732_13833_13833 Neutral - 2 345 5_2003205_P0024099_AAA322 Neutral - 5 346 5_2004214_20042277_AAA342 Neutral - 5 347 5_2005126_P0028209_AAA743 Neutral - 5 348 5_2008178_20081746_AAC468 Neutral - 5 349 5_2008335_20083639_AAC712 Neutral - 5 350 5_2008412_20080544_AAC855 Neutral - 5 351 5_2009263_20092863_AAD397 Neutral - 5 352 5_2009490_20082277_AAD773 Neutral - 5 353 5_2004214_20105731_AAE705 Neutral - 5 354 5_2010625_P0045640_AAE780 Neutral - 5 487 14_F1234_06C497_06C497 Neutral - 14 925 20_20-1945_1945-02_6867 Neutral - 20 926 20_20-3135_3135-01_12512 Neutral - 20 927 20_20-1273_1273-01_--- Neutral - 20 1056 31_H122_H122_1_H122_1_A Neutral - 31 1057 31_H122_H122_2_H122_2_A Neutral - 31 1058 31_H125_H125_1_H125_1_A Neutral - 31 1059 31_H76_H76_1_H76_1_A Neutral - 31 1060 31_H77_H77_1_H77_1_A Neutral - 31 1481 7_2637644E02055 Neutral - 7 1528 7_26371441E03122 Neutral - 7 1540 7_2637644E03220 Neutral - 7 1548 7_23981581E03272 Neutral - 7 1552 7_23981582E03273 Neutral - 7 1553 7_23981582E03273 Neutral - 7 1554 7_26371441E03274 Neutral - 7 1562 7_2398270E03317 Neutral - 7 1773 7_46132846E041196 Neutral - 7 1859 7_23913699E050358 Neutral - 7 1860 7_18123697E050359 Neutral - 7 2083 7_49264909E060036 Neutral - 7 2136 7_-6186---E060221 Neutral - 7 2140 7_-61865037E060221 Neutral - 7 2271 7_216456E2K083 Neutral - 7 2274 7_2391226E2K184 Neutral - 7 2281 7_1812262E2K241 Neutral - 7 2296 7_2398270E2K249 Neutral - 7 2553 SO_-3987---G05789 Neutral - 71 2646 SO_-4822---G07233 Neutral - 71 2709 SO_-5290---G08086 Neutral - 71 2757 SO_-55623187G08631 Neutral - 71 2882 37_L12.09920479132145/132146 Neutral - 37 2978 5_200938320101032AAF427 Neutral - 5 3196 37_L14.00425846153593 Neutral - 37 3197 37_L14.112-E27789160133 Neutral - 37
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
984C>T	c.984C>T	6		p.Ala328Ala	EXO1 stabilization	Neutral	French MMR network	31/01/07	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 135 2_02-SG618-IGR_1777_1777 Neutral - 2 136 2_02-ACT2008_14897_14897 Neutral - 2 2000 7_5158 (F504)4379E051061 Neutral - 7 2074 7_-61564857E051622 Neutral - 7 2369 SO_-22204089G01065 Neutral - 71 3053 19_2465724657-00124657-001 Neutral - 19
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
1021C>G	c.1021C>G	6		p.Leu341Val	EXO1 stabilization	Likely Neutral	French MMR network	26/03/12	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 392 8_35618_28061977_08-87130 Likely Neutral - 8
1022T>C	c.1022T>C	6		p.Leu341Pro	EXO1 stabilization	Causal	French MMR network	6/02/07	92
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 147 4_6146_19441_1709 Causal - 4 148 4_6146_19441_--- Causal - 4 393 8_F900_17041974_08-019080 Causal - 8 394 8_F900_27051962_08-755080 Causal - 8 395 8_F900_16071933_B032699 Causal - 8 396 8_F900_20061946_B032770 Causal - 8 397 8_F900_7111939_B032772 Causal - 8 398 8_F900_B032701_G2-Nç145 Causal - 8 608 19_12548_12548-001_12548- Causal - 19 946 31_H1299_H1299-2_H1299-2A Causal - 31 947 31_H62_H62_1_H62_1_A Causal - 31 1113 37_L97.02_254_186 Causal - 37 1114 37_L97.02_261_189 Causal - 37 1115 37_L98.05_264_198 Causal - 37 1116 37_L97.02_604_604 Causal - 37 1117 37_L01.03_885_3000 Causal - 37 1118 37_L01.03_1076_5913 Causal - 37 1119 37_L01.03_1223_7980 Causal - 37 1120 37_L97.02_1528_12943 Causal - 37 1121 37_L03.14_1635_14364 Causal - 37 1122 37_L03.17_1656_14767 Causal - 37 1123 37_L03.28_1826_17115 Causal - 37 1124 37_L03.32_1895_18473 Causal - 37 1125 37_L03.32_1539_18474 Causal - 37 1126 37_L03.17_2607_28443 Causal - 37 1127 37_L03.32_3704_39373 Causal - 37 1128 37_L03.32_3705_39374 Causal - 37 1129 37_L03.17_3776_39789 Causal - 37 1130 37_L03.17_3775_39791 Causal - 37 1131 37_L04.15_4181_43889 Causal - 37 1132 37_L04.31_4255_44404 Causal - 37 1133 37_L04.32_4545_46932 Causal - 37 1134 37_L06.35_5323_52588 Causal - 37 1135 37_L03.28_5611_54626 Causal - 37 1136 37_L03.28_5612_54628 Causal - 37 1137 37_F07.042_5983_56657 Causal - 37 1138 37_L06.35_6169_58578 Causal - 37 1139 37_L04.32_6220_59388 Causal - 37 1140 37_F07.042_5484_60936 Causal - 37 1141 37_F07.042_6742_64108 Causal - 37 1142 37_F07.042_6903_65405 Causal - 37 1143 37_F07.042_6982_66251 Causal - 37 1144 37_F07.042_6983_66252 Causal - 37 1145 37_F07.042_6984_66296 Causal - 37 1146 37_F07.042_6985_66297 Causal - 37 1147 37_F07.042_7042_66742 Causal - 37 1148 37_F07.042_7044_66760 Causal - 37 1149 37_L03.07_10421_87888 Causal - 37 1150 37_L03.07_10521_88380 Causal - 37 1151 37_L10.025_9233_94464 Causal - 37 1152 37_L03.32_12212_97178 Causal - 37 1153 37_L10.025_13041_100707 Causal - 37 1154 37_L10.068_10204_102040 Causal - 37 1155 37_L06.62_16434_121804 Causal - 37 1156 37_L11.079_17264_128245 Causal - 37 1157 37_L06.62_20384_131797 Causal - 37 1158 37_L06.62_20385_131798 Causal - 37 1159 37_L06.62_20384_131844 Causal - 37 1160 37_L06.62_20385_131845 Causal - 37 1161 37_L04.15_2295_23769/2973 Causal - 37 1162 37_L04.32_2485_27070/3127 Causal - 37 1163 37_L06.06_3822_40302/4030 Causal - 37 1164 37_L06.09_3868_40766/4076 Causal - 37 1165 37_L06.35_4246_44401/4440 Causal - 37 1166 37_L03.07_1754_--- Causal - 37 1512 7_2606538E02381 Causal - 7 1534 7_26061443E03147 Causal - 7 1557 7_26061428E03286 Causal - 7 2067 7_26064804E051547 Causal - 7 2333 SO_-1309---G00337 Causal - 71 2343 SO_-1309---G00781 Causal - 71 2344 SO_-1309---G00785 Causal - 71 2350 SO_-2110---G00816 Causal - 71 2433 SO_-2705---G02445 Causal - 71 2514 SO_-2705---G05074 Causal - 71 2550 SO_2606---G05759 Causal - 71 2841 37_L03.3222244138953 Causal - 37 2842 37_L06.6221916137796 Causal - 37 2843 37_L07.4223084142382 Causal - 37 2923 41_HNPCC467HNPCC467001 Causal - 41 2924 19_L11.07917264118451 Causal - 19 2925 19_L03.01718072122163 Causal - 19 2926 19_L06.62424348172 Causal - 19 2927 19_L06.6218507124297 Causal - 19 2928 19_L06.6218326123325 Causal - 19 2929 19_L06.6218329123326 Causal - 19 2930 19_L06.6216434121804 Causal - 19 2931 19_L10.06810204107108 Causal - 19 2932 31_H1299H1299-1H1299-1A Causal - 31 3076 37_L03.0729365165192 Causal - 37 3077 37_L04.3226377155302 Causal - 37 3078 37_L13.10826643156363 Causal - 37
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>A	c.1046C>A	6		p.Pro349His	EXO1 stabilization	Likely Causal	French MMR network	13/12/11	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2219 7_77417900E071477 Likely Causal - 7 3203 2_02-PKO1307141816214353433 Likely Causal - 2
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
1067T>A	c.1067T>A	6		p.Ile356Lys	EXO1 stabilization	Likely Causal	French MMR network	9/07/15	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1167 37_L04.30_4487_46663 Likely Causal - 37 1168 37_L04.30_6276_60016 Likely Causal - 37 1169 37_L04.30_10160_85900 Likely Causal - 37 1170 37_L04.30_6276_--- Likely Causal - 37 2845 37_L04.3010161146401 Likely Causal - 37
1077A>T	c.1077A>T	6-7		p.Arg359Ser	EXO1 stabilization	Causal	French MMR network	23/09/09	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 9 2_02-ACT2248_1591_1591 Causal - 2 10 2_02-ACT2248_1591_1591 Causal - 2 634 19_17792_17792-001_17792- Causal - 19 1707 7_4512 (04101)2675E040951 Causal - 7
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
1168C>T	c.1168C>T	7		p.Leu390Phe	EXO1 stabilization	Neutral	French MMR network	13/12/11	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 15 2_02-DDM3126_19590_19590 Neutral - 2 159 4_98H04_---_100 Neutral - 4
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
1275A>G	c.1275A>G	7		p.Glu425Glu	EXO1 stabilization	Neutral	French MMR network	9/07/15	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 408 8_41581_31121938_08-14429 Neutral - 8 409 8_44254_78261_08-790121EG Neutral - 8 490 17_F09 176_902504_7272 Neutral - 17 2070 7_-61614869E051621 Neutral - 7 2549 SO_-3960---G05754 Neutral - 71
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
1488A>G	c.1488A>G	9		p.Leu496Leu	EXO1 stabilization	Neutral	French MMR network	19/03/09	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1686 7_4358 (04066 CAL)2614E04 Neutral - 7 2690 SO_-5158---G07855 Neutral - 71
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
1532T>A	c.1532T>A	10		p.Ile511Asn	Clamp	Causal	French MMR network	26/03/12	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2940 4_Di1002249393176 Causal - 4 2941 4_Di100224939 Causal - 4
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
1571G>A	c.1571G>A	10		p.Arg524His	EXO1 stabilization	Likely Causal	French MMR network	28/01/13	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 418 8_35760_9111941_08-242160 Likely Causal - 8 419 8_NANCY_35760_09111941 (8 Likely Causal - 8
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
1602T>A	c.1602T>A	10		p.Arg534Arg	EXO1 stabilization	Neutral	French MMR network	19/03/09	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2637 SO_-4691---G07081 Neutral - 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
1617T>C	c.1617T>C	10		p.Phe539Phe	EXO1 stabilization	Neutral	French MMR network	4/08/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 902 20_20-1530_1530-23_--- Neutral - 20
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
1660A>T	c.1660A>T	10-11		p.Ser554Cys	EXO1 stabilization	Causal	French MMR network	26/03/12	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 480 14_F1053_04C330_04C330 Causal - 14 700 19_11296_11296-001_11296- Causal - 19 701 19_11296_11296-003_11296- Causal - 19 702 19_15427_15427-001_15427- Causal - 19
1661G>C	c.1661G>C	10-11		p.Ser554Thr	EXO1 stabilization	Causal	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 277 5_1995020_20082736_AAC588 Causal - 5
1666T>C	c.1666T>C	11		p.Leu556Leu	EXO1 stabilization	Neutral	French MMR network	12/06/07	27
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 45 2_02-SG63-IGR ACT2336_387 Neutral - 2 46 2_02-SG567-IGR NJ274_1531 Neutral - 2 47 2_02-ACT2593_1804_1804 Neutral - 2 279 5_2005276_P0029240_AAA942 Neutral - 5 280 5_2008111_20081098_AAC387 Neutral - 5 281 5_2010191_20101808_AAE130 Neutral - 5 493 17_Paris - F08694_5001158 Neutral - 17 713 19_11458_11458-001_11458- Neutral - 19 903 20_20-1517_1517-01_4856 Neutral - 20 904 20_20-3135_3135-01_12512 Neutral - 20 1216 37_L12.037_19051_127234 Neutral - 37 1217 37_L12.039_15714_127467-1 Neutral - 37 1487 7_2827686E02122 Neutral - 7 1499 7_27531094E02336 Neutral - 7 1511 7_6981248E02380 Neutral - 7 1517 7_2694556E03013 Neutral - 7 1520 7_31161373E03038 Neutral - 7 1630 7_4077 (0403801)2212E0404 Neutral - 7 1632 7_4152 (04K220)2317E04048 Neutral - 7 1738 7_-58102971E041029 Neutral - 7 1761 7_45832763E041131 Neutral - 7 1966 7_-60024224E050859 Neutral - 7 2674 SO_-5060---G07712 Neutral - 71 2707 SO_-5277---G08050 Neutral - 71 2817 SO_-57023272G08959 Neutral - 71 2855 5_20121662012002082AAG467 Neutral - 5 3100 17_130858516716001--- Neutral - 17
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>C	c.1680T>C	11		p.Asn560Asn	EXO1 stabilization	Neutral	French MMR network	12/06/07	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 49 2_02-ACT2046_14960_14960 Neutral - 2 716 19_8121_8121-001_8121-001 Neutral - 19 988 31_H339_H339-1_H339-1A Neutral - 31 2452 SO_-3046---G03085 Neutral - 71 2856 37_L12.04819236127678 Neutral - 37 2944 8_438327626508-269211EGS Neutral - 8
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
1737A>G	c.1737A>G	11		p.Lys579Lys	EXO1 stabilization	Neutral	French MMR network	13/05/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 52 2_02-DDM3553_20796_20796 Neutral - 2 1069 33_PSL 163__05-062 Neutral - 33 1070 33_PSL 453__06-212 Neutral - 33 1218 37_L06.53-E_4555_119660/1 Neutral - 37 2554 SO_-4001---G05800 Neutral - 71 2568 SO_-4100---G06037 Neutral - 71
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
1759G>C	c.1759G>C	11-12		p.Gly587Arg	EXO1 stabilization	Causal	French MMR network	9/12/13	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 992 31_H1480_H1480-1_H1480-1A Causal - 31 2539 SO_-3854---G05479 Causal - 71 2598 SO_-4383---G06509 Causal - 71 2677 SO_-5084---G07747 Causal - 71 2767 SO_-4383---G08751 Causal - 71 2857 19_2400024000,00124000,001 Causal - 19 2890 19_2553125531.00125531.001 Causal - 19 3104 19_2553125531-00325531-003 Causal - 19 3232 19_2834828348-00128348-001 Causal - 19
1761C>G	c.1761C>G	11-12		p.Gly587Gly	EXO1 stabilization	Neutral	French MMR network	26/03/12	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 288 5_2008093_20080939_AAC363 Neutral - 5 289 5_2008093_20080939_AAC363 Neutral - 5
1787A>G	c.1787A>G	12		p.Asn596Ser	EXO1 stabilization	UV	French MMR network	7/07/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2494 SO_-3427---G03842 UV - 71 3248 8_480539275608-140241 UV - 8
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
1823T>C	c.1823T>C	12		p.Phe608Ser	EXO1 interaction	Likely Causal	French MMR network	28/01/13	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3061 4_JCS1216284774103 Likely Causal - 4
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
1906G>C	c.1906G>C	12		p.Ala636Pro	ATPase	Causal	French MMR network	12/06/07	14
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 58 2_02-SG351-Cochin EXT62_2 Causal - 2 742 19_12123_12123-001_12123- Causal - 19 743 19_6967_6967-001_6967-001 Causal - 19 744 19_6967_6967-002_6967-002 Causal - 19 745 19_6967_6967-006_6967-006 Causal - 19 906 20_20-1246_1246-01_--- Causal - 20 996 31_H604_H604-1_H604-1A Causal - 31 1383 41_HNPCC026_HNPCC026001_- Causal - 41 2175 7_55785294E060641 Causal - 7 2370 SO_-2226---G01102 Causal - 71 2430 SO_-2226---G02287 Causal - 71 2587 SO_-2226---G06310 Causal - 71 2713 SO_-5335---G08167 Causal - 71 3209 2_02-DDM844143588215138447 Causal - 2
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
1915C>T	c.1915C>T	12		p.His639Tyr	ATPase	Causal	French MMR network	12/06/07	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1229 37_E-L02.02_1298_8949 Causal - 37 1230 37_E-L02.02_1299_8950 Causal - 37 1231 37_E-L02.02_2216_22757 Causal - 37 1232 37_E-L02.02_4138_44663 Causal - 37 1233 37_E-L02.02_4295_44664 Causal - 37 1234 37_E-L02.02_4296_44680 Causal - 37 1235 37_L02.02-E_4746_48700 Causal - 37 1236 37_L02.02-E_5529_54015 Causal - 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
1933C>G	c.1933C>G	12		p.Gln645Glu	ATPase	Likely Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 746 19_9220_9220-001_9220-001 Likely Neutral - 19
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
2005G>T	c.2005G>T	12-13		p.Gly669Cys	ATP binding	Likely Causal	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3116 16148_16148-00116148-001 Likely Causal - 19
2006G>T	c.2006G>T	12-13		p.Gly669Val	ATP binding	Likely Causal	French MMR network	9/07/15	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 495 17_F06091_5880_--- Likely Causal - 17 754 19_16151_16151-001_16151- Likely Causal - 19 1243 37_L07.15-E_5475_53667 Likely Causal - 37 2949 19_L07.15-E547553667 Likely Causal - 19 3021 19_2488424884-00124884-001 Likely Causal - 19 3119 19_2492224922-00124922-001 Likely Causal - 19 3120 19_2488424884-00224884-002 Likely Causal - 19 3238 19_2567725677-00125677-001 Likely Causal - 19
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
2021G>A	c.2021G>A	13		p.Gly674Asp	ATP binding	Causal	French MMR network	26/09/11	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 496 17_Paris - F00149_5001157 Causal - 17 1411 SO_-650---5508 Causal - 71 2382 SO_-650---G01495 Causal - 71 2860 5_201163420115747AAF838 Causal - 5
2023A>G	c.2023A>G	13		p.Lys675Glu	ATP binding	Likely Causal	French MMR network	28/01/13	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3121 21795_21795-00121795-001 Likely Causal - 19
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
2039G>C	c.2039G>C	13		p.Arg680Pro	ATP binding	Causal	French MMR network	26/03/12	19
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 67 2_Lyon_15066_15066 Causal - 2 188 4_BCR0604_19538_1731 Causal - 4 189 4_Gr2007-496_20904_2176 Causal - 4 190 4_CH1002_24204_2965 Causal - 4 191 4_CH1214_41767_4146 Causal - 4 192 4_BCR0604_19538_--- Causal - 4 193 4_Mp2000601_---_--- Causal - 4 370 6_610193_B51412_S5888 Causal - 6 497 17_Paris-F10865_5001223_9 Causal - 17 1072 33_SAT 128__07-004 Causal - 33 1073 33_SAT 286 __08-169 Causal - 33 2327 SO_-59---G00288 Causal - 71 2474 SO_-3169---G03333 Causal - 71 2610 SO_-4476---G06661 Causal - 71 2611 SO_-4476---G06662 Causal - 71 2617 SO_-4476---G06788 Causal - 71 2631 SO_-4675---G07020 Causal - 71 2670 SO_-3169---G07649 Causal - 71 3122 5_2013580P0055814AAI194 Causal - 5
2042A>C	c.2042A>C	13		p.Gln681Pro	ATP binding	Causal	French MMR network	28/01/13	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 759 19_14531_14531-001_14531- Causal - 19 1390 41_HNPCC254_HNPCC254001_- Causal - 41
2061C>G	c.2061C>G	13		p.Leu687Leu	ATPase	Neutral	French MMR network	13/12/11	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 436 8_42084_8101922_08-469190 Neutral - 8 1246 37_L02.10_1172_7275 Neutral - 37
2074G>T	c.2074G>T	13		p.Gly692Trp	ATPase	Likely Causal	French MMR network	28/01/13	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1247 37_F06.068_4212_45625 Likely Causal - 37 1248 37_F06.068_6347_--- Likely Causal - 37
2075G>A	c.2075G>A	13		p.Gly692Glu	ATPase	Likely Causal	French MMR network	7/07/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 68 2_02-ACT3084_19426_19426 Likely Causal - 2
2075G>T	c.2075G>T	13		p.Gly692Val	ATPase	Causal	French MMR network	9/07/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 296 5_2008484_20085196_AAC975 Causal - 5 1074 33_PSL 375__06-033 Causal - 33 2465 SO_-2861---G03230 Causal - 71
2087C>T	c.2087C>T	13		p.Pro696Leu	ATPase	Likely Causal	French MMR network	9/07/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 911 20_20-3124_3124-01_12479 Likely Causal - 20 2330 SO_-1001---G00329 Likely Causal - 71 3227 19_2762327623-00127623-001 Likely Causal - 19
2089T>C	c.2089T>C	13		p.Cys697Arg	ATPase	Causal	French MMR network	26/09/11	46
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3257 4_BCR150365370865697 Causal - 4 69 2_DDM6215_24998_24998 Causal - 2 195 4_97H04_---_110 Causal - 4 196 4_01D04_---_759 Causal - 4 197 4_B0543_19793_--- Causal - 4 437 8_F1882_10091961_08-26218 Causal - 8 438 8_16858_8071945_08-325080 Causal - 8 934 25_HUS-1805_BOUERI_AFV92 Causal - 25 935 25_HUS-1805_BOUJUL_APD71 Causal - 25 1005 31_H750_H750-1_H750-1A Causal - 31 1006 31_H750_H750-2_H750-2A Causal - 31 1249 37_L00.10_785_1817 Causal - 37 1250 37_L00.10_4578_47262 Causal - 37 1251 37_L00.10_7586_70767 Causal - 37 1252 37_L00.10_9785_83377 Causal - 37 1253 37_L00.10_10223_86172 Causal - 37 1391 41_HNPCC002_HNPCC002001_- Causal - 41 1392 41_HNPCC002_HNPCC0002002_ Causal - 41 1393 41_HNPCC002_HNPCC0002003_ Causal - 41 1394 41_HNPCC002_HNPCC0002005_ Causal - 41 1395 41_HNPCC002_HNPCC002006_- Causal - 41 1396 41_HNPCC002_HNPCC002007_- Causal - 41 1651 7_4355 (02K171)2481E04061 Causal - 7 1699 7_-4731---E040889 Causal - 7 1701 7_-47313797E040889 Causal - 7 1703 7_-47313797E040890 Causal - 7 2373 SO_-2249---G01135 Causal - 71 2379 SO_-617---G01473 Causal - 71 2403 SO_-2249---G01750 Causal - 71 2447 SO_-2932---G02877 Causal - 71 2510 SO_-2932---G04978 Causal - 71 2511 SO_-2932---G04979 Causal - 71 2512 SO_-2932---G04980 Causal - 71 2515 SO_-2932---G05078 Causal - 71 2516 SO_-2932---G05079 Causal - 71 2527 SO_-2932---G05400 Causal - 71 2528 SO_-2932---G05401 Causal - 71 2529 SO_-2932---G05402 Causal - 71 2530 SO_-2932---G05404 Causal - 71 2574 SO_-2932---G06150 Causal - 71 2575 SO_-2932---G06156 Causal - 71 2638 SO_-4731---G07089 Causal - 71 2643 SO_-4807---G07206 Causal - 71 2862 25_HUS-1805BOUJULAPD71 Causal - 25 3022 8_409205952208-223041EGS Causal - 8 3023 8_456508458808-347031EGS Causal - 8
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
2110A>G	c.2110A>G	13		p.Ile704Val	ATPase	Likely Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 313 5_2005254_20042265_AAA946 Likely Neutral - 5
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
2154A>G	c.2154A>G	13		p.Gln718Gln	ATPase	Neutral	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 912 20_20-1195_1195-05_--- Neutral - 20
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
2168C>T	c.2168C>T	13		p.Ser723Phe	ATPase	Causal	French MMR network	12/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1271 37_L05.18_2838_34066/3406 Causal - 37
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
2242G>T	c.2242G>T	14		p.Asp748Tyr	ATPase	Likely Causal	French MMR network	9/07/15	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 83 2_02-DDM3617_20922_20922 Likely Causal - 2 204 4_JCS0912_22412_2680 Likely Causal - 4 440 8_41454_7091953_08-303290 Likely Causal - 8 1079 33_PSL 483__07-163 Likely Causal - 33 3127 19_2431724317-00124317-001 Likely Causal - 19 3226 4_SE1501356685432 Likely Causal - 4
2245G>A	c.2245G>A	14		p.Glu749Lys	ATPase	Causal	French MMR network	12/06/07	30
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 206 4_112_---_--- Causal - 4 771 19_6767_6767-001_6767-001 Causal - 19 772 19_6767_6767-002_6767-002 Causal - 19 773 19_7677_7677-003_7677-003 Causal - 19 774 19_7677_7677-006_7677-006 Causal - 19 1012 31_H185_H185-1_H185-1A Causal - 31 1276 37_L08.026-E_6657_63435 Causal - 37 1277 37_L08.082_7724_71663 Causal - 37 1401 41_HNPCC014_HNPCC014001_- Causal - 41 1402 41_HNPCC014_HNPCC014002_- Causal - 41 1410 SO_-945---5232 Causal - 71 2068 7_-6146---E051561 Causal - 7 2069 7_-61464820E051561 Causal - 7 2329 SO_-945---G00325 Causal - 71 2342 SO_-945---G00765 Causal - 71 2346 SO_-945---G00794 Causal - 71 2348 SO_-945---G00801 Causal - 71 2566 SO_-4060---G06027 Causal - 71 2706 SO_-5207---G07953 Causal - 71 2957 19_L10.070-E13475102146 Causal - 19 3028 19_2519525195-00125195-001 Causal - 19 3128 19_76777677-0097677-009 Causal - 19 3129 19_76777677-0107677-010 Causal - 19 3130 19_76777677-0117677-011 Causal - 19 3131 19_2145121451-00121451-001 Causal - 19 3132 19_2519525195-00425195-004 Causal - 19 3133 19_2702627026-00127026-001 Causal - 19 3134 19_76777677-0127677-012 Causal - 19 3135 19_2519525195-00725195-007 Causal - 19 3136 37_L12.135-E27902160527 Causal - 37
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
2400A>G	c.2400A>G	14		p.Leu800Leu	ATPase	Neutral	French MMR network	5/08/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1284 37_L08.044_6916_65455 Neutral - 37
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
2430C>G	c.2430C>G	14		p.Thr810Thr	ATPase	Neutral	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3139 37_L13.13816818147896 Neutral - 37
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
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
2633A>G	c.2633A>G	15		p.Glu878Gly	MSH3/MSH6 interaction	Likely Causal	French MMR network	13/12/11	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2980 7_68729775E112045 Likely Causal - 7 2979 7_68726927E070316 Likely Causal - 71 2981 7_68729856E090617 Likely Causal - 7
2634G>A	c.2634G>A	15		p.Glu878Glu	MSH3/MSH6 interaction	Causal	French MMR network	7/10/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3147 37_L14-046-E26720156574 Causal - 37
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
2651T>G	c.2651T>G	16		p.Ile884Ser	MSH3/MSH6 interaction	Likely Causal	French MMR network	4/08/10	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 326 5_1999066_19990534_--- Likely Causal - 5 1295 37_L08.056_5250_67444 Likely Causal - 37 1296 37_L08.056_10412_90464 Likely Causal - 37 2438 SO_-2779---G02621 Likely Causal - 71 2711 SO_-5328---G08119 Likely Causal - 71
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
2662C>T	c.2662C>T	16		p.Leu888Leu	MSH3/MSH6 interaction	Likely Neutral	French MMR network	13/12/11	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 327 5_2008333_20083604_AAC704 Likely Neutral - 5 2576 SO_-4181---G06210 Likely Neutral - 71
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>C	c.2766T>C	16		p.Phe922Phe	MSH3/MSH6 interaction	Neutral	French MMR network	25/06/07	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 98 2_02-DDM2958_19183_19183 Neutral - 2 2633 SO_-4726---G07064 Neutral - 71 2654 SO_-4866---G07330 Neutral - 71 3161 17_120891017231001--- Neutral - 17
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
2801C>T	c.2801C>T	16		p.Thr934Met	MSH3/MSH6 interaction	Neutral	French MMR network	25/06/07	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 915 20_20-1806_1806-04_6176 Neutral - 20 1899 7_-5945---E050593 Neutral - 7 1904 7_-59453982E050593 Neutral - 7 1960 7_5008 (F501)4169E050819 Neutral - 7 2378 SO_-568---G01463 Neutral - 71
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