The UMD-MSH2 mutations database
Splice mutations (<10 bp from exon) (867 records)

    Request ID: 521549291689

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
IVS1+2T>C (11+2T>C)	c.IVS1+2T>C (c.211+2T>C)	1-2			Mismatch binding	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 439 8_45067_81510_08-885221EG Causal - 8 3024 8_450678665208-872131EGS Causal - 8 3025 8_450679081208-781331EGS Causal - 8
IVS1+9C>G (11+9C>G)	c.IVS1+9C>G (c.211+9C>G)	1-2			Mismatch binding	Neutral	French MMR network	6/02/07	270
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 74 2_02-DDM2744_18675_18675 Neutral - 2 75 2_---_---_--- Neutral - 2 297 5_2004080_---_--- Neutral - 5 298 5_2004025_20040375_AAA071 Neutral - 5 299 5_2003213_20040630_AAA108 Neutral - 5 300 5_2004038_19953623_AAA112 Neutral - 5 301 5_2004045_20034071_AAA146 Neutral - 5 302 5_2004105_P0025625_AAA234 Neutral - 5 303 5_2004106_P0025626_AAA235 Neutral - 5 304 5_2004124_P0025730_AAA254 Neutral - 5 305 5_2004080_P0025837_AAA284 Neutral - 5 306 5_2004160_20022644_AAA285 Neutral - 5 307 5_2004151_20042502_AAA318 Neutral - 5 308 5_2004162_P0026141_AAA327 Neutral - 5 309 5_2004286_P0026601_AAA419 Neutral - 5 310 5_2004259_20044067_AAA453 Neutral - 5 311 5_2004307_20044741_AAA533 Neutral - 5 312 5_2004312_P0026995_AAA858 Neutral - 5 936 25_HUS-3436_REIVER_AMI 25 Neutral - 25 1008 31_H278_1_A Neutral - 31 1009 31_H280_1_A Neutral - 31 1010 31_H291_1_A Neutral - 31 1011 31_H25_1_C Neutral - 31 1076 33_PSL 383__06-765 Neutral - 33 1077 33_SAT 141__07-165 Neutral - 33 1415 SO_4361746771.00E+04 Neutral - 71 1416 SO_38757473411B12 Neutral - 71 1420 SO_3879546751A3 Neutral - 71 1421 SO_3876346761D4 Neutral - 71 1424 SO_6-046781G9 Neutral - 71 1425 SO_3890146791H9 Neutral - 71 1426 SO_3899646802D12 Neutral - 71 1429 SO_16-2546812D8 Neutral - 71 1430 SO_4230946822H3 Neutral - 71 1433 SO_3875947315F11 Neutral - 71 1436 SO_19-00047327C8 Neutral - 71 1439 SO_3905847338A6 Neutral - 71 1445 7_2124354E01035 Neutral - 7 1457 7_1916418E01103 Neutral - 7 1460 7_444453E01139 Neutral - 7 1468 7_2231569E01257 Neutral - 7 1495 7_2952979E02293 Neutral - 7 1524 7_31501409E03072 Neutral - 7 1526 7_29571415E03083 Neutral - 7 1531 7_32351444E03143 Neutral - 7 1532 7_9091454E03145 Neutral - 7 1533 7_9021455E03146 Neutral - 7 1536 7_6791487E03163 Neutral - 7 1538 7_27881504E03188 Neutral - 7 1544 7_15091564E03262 Neutral - 7 1547 7_33261578E03268 Neutral - 7 1551 7_23981582E03273 Neutral - 7 1555 7_32061590E03284 Neutral - 7 1556 7_30381592E03285 Neutral - 7 1558 7_34221602E03296 Neutral - 7 1560 7_32941596E03298 Neutral - 7 1564 7_34691635E03350 Neutral - 7 1568 7_35001650E03372 Neutral - 7 1572 7_35161651E03392 Neutral - 7 1575 7_34791660E03393 Neutral - 7 1576 7_18131659E03394 Neutral - 7 1578 7_33141668E03395 Neutral - 7 1584 7_19641698E03437 Neutral - 7 1586 7_10941701E03438 Neutral - 7 1588 7_35661709E03456 Neutral - 7 1597 7_3544 (F46)1820E03523 Neutral - 7 1613 7_37272081E040294 Neutral - 7 1619 7_4124 (F75)2297E040369 Neutral - 7 1622 7_4051 (04K216)2196E04042 Neutral - 7 1627 7_3970 (C51)2280E040431 Neutral - 7 1633 7_4152 (04K220)2317E04048 Neutral - 7 1642 7_42822413E040560 Neutral - 7 1643 7_43242454E040581 Neutral - 7 1647 7_4347 (F376 ISC)2473E040 Neutral - 7 1660 7_43832509E040648 Neutral - 7 1662 7_43852506E040649 Neutral - 7 1667 7_43592523E040661 Neutral - 7 1670 7_39522526E040663 Neutral - 7 1672 7_41062542E040685 Neutral - 7 1675 7_43172549E040705 Neutral - 7 1679 7_4414 (04K226)2555E04071 Neutral - 7 1682 7_4221 (04042 CAL)2553E04 Neutral - 7 1685 7_44242566E040751 Neutral - 7 1687 7_4358 (04066 CAL)2614E04 Neutral - 7 1689 7_44222613E040794 Neutral - 7 1694 7_-57912947E040799 Neutral - 7 1698 7_5652644E040849 Neutral - 7 1711 7_4535 (04K233)2699E04097 Neutral - 7 1713 7_1509 (04K234)2697E04097 Neutral - 7 1715 7_-58253014E040983 Neutral - 7 1720 7_-58213010E041001 Neutral - 7 1724 7_-58203009E041003 Neutral - 7 1728 7_-58223011E041004 Neutral - 7 1730 7_-57702852E041025 Neutral - 7 1733 7_-57662831E041027 Neutral - 7 1736 7_3132882E041028 Neutral - 7 1739 7_-58102971E041029 Neutral - 7 1741 7_-58082969E041030 Neutral - 7 1745 7_-57932949E041032 Neutral - 7 1746 7_-58172982E041033 Neutral - 7 1749 7_-57992955E041034 Neutral - 7 1753 7_-58012957E041035 Neutral - 7 1756 7_-58142980E041036 Neutral - 7 1763 7_45832763E041131 Neutral - 7 1767 7_4593 (04K237)2776E04114 Neutral - 7 1768 7_4606 (04K238)2785E04114 Neutral - 7 1774 7_4626 (F427)2796E041197 Neutral - 7 1777 7_4625 (F437)2797E041199 Neutral - 7 1782 7_41773083E041200 Neutral - 7 1784 7_-58403074E041268 Neutral - 7 1789 7_-58032960E041269 Neutral - 7 1792 7_46353084E041286 Neutral - 7 1795 7_46483382E050007 Neutral - 7 1796 7_46773390E050017 Neutral - 7 1797 7_46943453E050029 Neutral - 7 1798 7_4710 (05K243)3463E05004 Neutral - 7 1799 7_-56803001E050090 Neutral - 7 1800 7_-58713516E050102 Neutral - 7 1803 7_-58753520E050103 Neutral - 7 1804 7_-58833527E050104 Neutral - 7 1808 7_-58783522E050105 Neutral - 7 1811 7_4749 (F445)3555E050151 Neutral - 7 1816 7_47583566E050162 Neutral - 7 1819 7_47583565E050163 Neutral - 7 1820 7_-58433305E050197 Neutral - 7 1821 7_-58563359E050198 Neutral - 7 1827 7_47913597E050240 Neutral - 7 1831 7_48083613E050257 Neutral - 7 1832 7_48023608E050258 Neutral - 7 1834 7_48043609E050259 Neutral - 7 1838 7_46683631E050305 Neutral - 7 1839 7_-58903628E050306 Neutral - 7 1851 7_48293686E050334 Neutral - 7 1852 7_48303687E050335 Neutral - 7 1853 7_4846 (05K249)3702E05034 Neutral - 7 1857 7_4850 (F421)3705E050346 Neutral - 7 1862 7_-59143736E050381 Neutral - 7 1863 7_-59123737E050382 Neutral - 7 1867 7_38273846E050461 Neutral - 7 1870 7_-59283863E050478 Neutral - 7 1876 7_43643905E050485 Neutral - 7 1879 7_5583966E050517 Neutral - 7 1890 7_46453838E050579 Neutral - 7 1893 7_-59563996E050586 Neutral - 7 1896 7_-59413978E050588 Neutral - 7 1897 7_45643985E050592 Neutral - 7 1903 7_-59453982E050593 Neutral - 7 1909 7_-59624002E050594 Neutral - 7 1917 7_43353969E050622 Neutral - 7 1918 7_49284033E050664 Neutral - 7 1921 7_48884032E050665 Neutral - 7 1922 7_4952 (05K251)4084E05069 Neutral - 7 1923 7_4956 (F464)4088E050692 Neutral - 7 1927 7_4969 (CAL 05007)4105E05 Neutral - 7 1931 7_4967 (05K253)4103E05071 Neutral - 7 1934 7_49764114E050714 Neutral - 7 1935 7_49784116E050715 Neutral - 7 1936 7_-59714058E050719 Neutral - 7 1939 7_-59724057E050720 Neutral - 7 1941 7_-59814056E050721 Neutral - 7 1944 7_-59824055E050722 Neutral - 7 1947 7_-59804054E050723 Neutral - 7 1950 7_-59734051E050725 Neutral - 7 1957 7_-59944129E050766 Neutral - 7 1958 7_4999 (05K255) 4160E0508 Neutral - 7 1961 7_5013 (F 496)4172E050820 Neutral - 7 1967 7_-60024224E050859 Neutral - 7 1968 7_-60094231E050860 Neutral - 7 1969 7_-60204242E050861 Neutral - 7 1972 7_-32234246E050862 Neutral - 7 1977 7_-60314284E050928 Neutral - 7 1980 7_50874275E050940 Neutral - 7 1984 7_48784306E050942 Neutral - 7 1989 7_-60394339E050971 Neutral - 7 1992 7_33234319E050972 Neutral - 7 1994 7_51214355E050988 Neutral - 7 1997 7_5153 (05K260)4374E05105 Neutral - 7 1999 7_5158 (F504)4379E051061 Neutral - 7 2004 7_5166 (F529)4401E051076 Neutral - 7 2005 7_5166 (F529)4402E051077 Neutral - 7 2006 7_5167 (F527)4406E051092 Neutral - 7 2009 7_51784418E051171 Neutral - 7 2010 7_-60414484E051172 Neutral - 7 2015 7_-60424485E051173 Neutral - 7 2019 7_-60444487E051174 Neutral - 7 2023 7_-60814447E051175 Neutral - 7 2031 7_-60724428E051206 Neutral - 7 2032 7_-60624502E051207 Neutral - 7 2039 7_51014545E051312 Neutral - 7 2043 7_51954551E051332 Neutral - 7 2049 7_51934614E051376 Neutral - 7 2050 7_43754656E051425 Neutral - 7 2054 7_-61114751E051472 Neutral - 7 2057 7_-61214759E051475 Neutral - 7 2064 7_-61394786E051512 Neutral - 7 2073 7_-61564857E051622 Neutral - 7 2077 7_53334878E060023 Neutral - 7 2079 7_53454906E060029 Neutral - 7 2082 7_49264909E060036 Neutral - 7 2087 7_-61644915E060037 Neutral - 7 2088 7_5385 (CAL: 05043)4956E0 Neutral - 7 2092 7_53614931E060092 Neutral - 7 2095 7_5394 (05K265)4966E06010 Neutral - 7 2099 7_5393 (05K274)4965E06010 Neutral - 7 2102 7_5391 (05K273)4963E06010 Neutral - 7 2106 7_5390 (547)4962E060105 Neutral - 7 2107 7_5389 (05K267)4961E06010 Neutral - 7 2111 7_2454 (F540)4959E060108 Neutral - 7 2112 7_5377 (05K268)4949E06012 Neutral - 7 2115 7_-61725006E060131 Neutral - 7 2117 7_-61814987E060133 Neutral - 7 2124 7_54415072E060217 Neutral - 7 2125 7_5446 (F573)5077E060218 Neutral - 7 2128 7_54065067E060219 Neutral - 7 2134 7_-61885063E060220 Neutral - 7 2139 7_-61865037E060221 Neutral - 7 2143 7_-61895036E060222 Neutral - 7 2146 7_-61855038E060223 Neutral - 7 2152 7_-61965126E060307 Neutral - 7 2153 7_54695158E060314 Neutral - 7 2156 7_-62245184E060402 Neutral - 7 2160 7_-62195190E060404 Neutral - 7 2162 7_-62265210E060448 Neutral - 7 2165 7_-62465274E060575 Neutral - 7 2168 7_2454 (540 ISC)5296E0605 Neutral - 7 2171 7_56175336E060623 Neutral - 7 2173 7_5616 (F600)5340E060640 Neutral - 7 2178 7_56405360E060652 Neutral - 7 2182 7_-62745369E060675 Neutral - 7 2184 7_-62665388E060678 Neutral - 7 2187 7_-62775366E060680 Neutral - 7 2192 7_-62845433E060753 Neutral - 7 2197 7_-62815430E060756 Neutral - 7 2200 7_-62855429E060757 Neutral - 7 2206 7_56645444E060784 Neutral - 7 2210 7_5454 (05040)5443E060785 Neutral - 7 2213 7_56735465E060808 Neutral - 7 2216 7_5682 (05K276)5474E06081 Neutral - 7 2268 7_209010E2K038 Neutral - 7 2269 7_50119E2K062 Neutral - 7 2277 7_2267256E2K236 Neutral - 7 2368 SO_-22204089G01065 Neutral - 71 2686 SO_-51203124G07815 Neutral - 71 2694 SO_-51883125G07917 Neutral - 71 2698 SO_-51963913G07925 Neutral - 71 2702 SO_-51973127G07927 Neutral - 71 2703 SO_-51453128 (G07928)G079 Neutral - 71 2722 SO_-53753136 (G08244)G082 Neutral - 71 2723 SO_-53753137 (G08245)G082 Neutral - 71 2734 SO_-54403899G08310 Neutral - 71 2756 SO_-55623187G08631 Neutral - 71 2766 SO_-56383224G08745 Neutral - 71 2770 SO_-56353220G08755 Neutral - 71 2772 SO_-56213210G08772 Neutral - 71 2776 SO_-54243215G08789 Neutral - 71 2780 SO_-56633237G08792 Neutral - 71 2783 SO_-56273213G08794 Neutral - 71 2789 SO_-56573233G08815 Neutral - 71 2798 SO_-56733246G08867 Neutral - 71 2800 SO_-56723245G08869 Neutral - 71 2805 SO_-56793256G08882 Neutral - 71 2810 SO_-56853260G08893 Neutral - 71 2813 SO_-54263268G08919 Neutral - 71 2814 SO_-57033273G08958 Neutral - 71 2818 SO_-57023272G08959 Neutral - 71 2819 SO_-57013271G08966 Neutral - 71 2821 SO_-57243285G08981 Neutral - 71 2825 SO_-57383087G09004 Neutral - 71 2863 25_HUS-3436REIVERAMI 25 Neutral - 25 3026 25_HUS-3436132213AMI25 Neutral - 25
IVS1-4del (12-4del)	c.IVS1-4del (c.212-4del)	1-2			Mismatch binding	Neutral	French MMR network	26/09/11	30
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1446 7_1978406E01057 Neutral - 7 1458 7_1916418E01103 Neutral - 7 1461 7_444453E01139 Neutral - 7 1469 7_2231569E01257 Neutral - 7 1473 7_2600581E01271 Neutral - 7 1476 7_2764626E02022 Neutral - 7 1589 7_36351755E03511 Neutral - 7 1590 7_511761E03515 Neutral - 7 1591 7_10961762E03516 Neutral - 7 1593 7_4591763E03517 Neutral - 7 1594 7_34331769E03518 Neutral - 7 1608 7_3819 (00K98)2003E040255 Neutral - 7 1611 7_38732077E040292 Neutral - 7 1615 7_3973 (F326)2133E040357 Neutral - 7 1676 7_43172549E040705 Neutral - 7 1680 7_39962547E040715 Neutral - 7 1690 7_44222613E040794 Neutral - 7 2261 7_10623E2K033 Neutral - 7 2291 7_1698268E2K247 Neutral - 7 2303 7_2283286E2K269 Neutral - 7 2695 SO_-51883126G07918 Neutral - 71 2716 SO_-53483133 (G08182)G081 Neutral - 71 2729 SO_-53243139 (G08303)G083 Neutral - 71 2736 SO_-38203143 (G08328)G083 Neutral - 71 2763 SO_-56423226G08742 Neutral - 71 2771 SO_-56353220G08755 Neutral - 71 2784 SO_-56273213G08794 Neutral - 71 2802 SO_-56693242G08872 Neutral - 71 2815 SO_-57033273G08958 Neutral - 71 2826 SO_-57383087G09004 Neutral - 71
IVS2+1G>A (66+1G>A)	c.IVS2+1G>A (c.366+1G>A)	2			Mismatch binding	Causal	French MMR network	16/12/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3063 8_439117672108-392311EGS Causal - 41 3245 8_439119619508-161241 Causal - 8 3246 8_439119288908-285041 Causal - 8
IVS2+1G>T (66+1G>T)	c.IVS2+1G>T (c.366+1G>T)	2			Mismatch binding	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 329 5_2003242_20031073_AAA335 Causal - 5 330 5_20003242_20031073_AAA33 Causal - 5 446 8_43911_76721_08-392311EG Causal - 8 1297 37_E-L02.03_1395_10711 Causal - 37
IVS3+1G>A (45+1G>A)	c.IVS3+1G>A (c.645+1G>A)	3			Connector	Causal	French MMR network	21/02/14	19
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 825 19_6206_6206-001_6206-001 Causal - 19 826 19_6206_6206-002_6206-002 Causal - 19 827 19_6206_6206-003_6206-003 Causal - 19 828 19_6206_6206-004_6206-004 Causal - 19 829 19_6206_6206-005_6206-005 Causal - 19 830 19_6206_6206-006_6206-006 Causal - 19 831 19_6206_6206-008_6206-008 Causal - 19 832 19_6206_6206-010_6206-010 Causal - 19 833 19_6206_6206-011_6206-011 Causal - 19 834 19_6206_6206-013_6206-013 Causal - 19 835 19_6206_6206-014_6206-014 Causal - 19 836 19_6206_6206-015_6206-015 Causal - 19 837 19_6206_6206-019_6206-019 Causal - 19 838 19_6206_6206-020_6206-020 Causal - 19 839 19_6206_6206-023_6206-023 Causal - 19 840 19_6206_6206-027_6206-027 Causal - 19 841 19_6206_6206-029_6206-029 Causal - 19 842 19_6206_6206-033_6206-033 Causal - 19 2649 SO_-4828---G07256 Causal - 71
IVS3+1G>C (45+1G>C)	c.IVS3+1G>C (c.645+1G>C)	3			Connector	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 501 17_F06014_9307906_5694 Causal - 17
IVS3+1G>T (45+1G>T)	c.IVS3+1G>T (c.645+1G>T)	3			Connector	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 461 8_F1313_7081959_08-290150 Causal - 8
IVS3-1G>C (46-1G>C)	c.IVS3-1G>C (c.646-1G>C)	4			Connector	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 227 4_H-JCS0408_17830_1094 Causal - 4 850 19_11219_11219-001_11219- Causal - 19 851 19_11219_11219-002_11219- Causal - 19
IVS3-1G>T (46-1G>T)	c.IVS3-1G>T (c.646-1G>T)	4			Connector	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2384 SO_-656---G01500 Causal - 71
IVS3-2A>G (46-2A>G)	c.IVS3-2A>G (c.646-2A>G)	4			Connector	Causal	French MMR network	21/02/14	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1951 7_-2394---E050750 Causal - 7 1952 7_-23944078E050750 Causal - 7 2400 SO_-2394---G01694 Causal - 71 2442 SO_-2394---G02726 Causal - 71 2460 SO_-2394---G03210 Causal - 71 2463 SO_-2394---G03222 Causal - 71 2472 SO_-2394---G03293 Causal - 71 2491 SO_-2394---G03701 Causal - 71 3220 20_20-48314831-01--- Causal - 20
IVS4+1del (92+1del)	c.IVS4+1del (c.792+1del)	4			EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 234 4_JCS0516_18964_1569 Causal - 4 1044 31_H710_H710-1_H710-1A Causal - 31
IVS4+1G>C (92+1G>C)	c.IVS4+1G>C (c.792+1G>C)	4			EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 385 6_609091_B00067397_S0077 Causal - 6
IVS4-1G>A (93-1G>A)	c.IVS4-1G>A (c.793-1G>A)	5				Causal	French MMR network	29/08/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3046 8_45836/4489685507984031EGS Causal - 8
IVS4-2A>C (93-2A>C)	c.IVS4-2A>C (c.793-2A>C)	5			EXO1 stabilization	Causal	French MMR network	21/02/14	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1323 37_L01.04_906_3133 Causal - 37 1324 37_L04.11_1774_22924 Causal - 37 1325 37_L04.11_2447_26542 Causal - 37 1326 37_L04.11_2589_28309 Causal - 37 1327 37_L04.11_2664_29029 Causal - 37 1328 37_F07.017_5191_55701 Causal - 37 1329 37_F07.017_6438_61311 Causal - 37 1330 37_F07.017_8293_75062 Causal - 37 2878 37_L01.0420198138247/139900 Causal - 37
IVS4-5T>C (93-5T>C)	c.IVS4-5T>C (c.793-5T>C)	5			EXO1 stabilization	UV	French MMR network	2/05/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2252 7_1321413731E110556 UV - 7
IVS5+1del2 (42+1del2)	c.IVS5+1del2 (c.942+1del2)	5			EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2238 7_915310514E090658 Causal - 7
IVS5+2T>A (42+2T>A)	c.IVS5+2T>A (c.942+2T>A)	5			EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 874 19_13426_13426-001_13426- Causal - 19
IVS5+2T>G (42+2T>G)	c.IVS5+2T>G (c.942+2T>G)	5			EXO1 stabilization	Causal	French MMR network	21/02/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1336 37_L98.01_253_185 Causal - 37 1337 37_L98.01_292_242 Causal - 37 1338 37_L98.01_641_633 Causal - 37 1339 37_L98.01_2285_23660 Causal - 37 1340 37_L98.01_2405_25726 Causal - 37 1341 37_L98.01_2680_29090 Causal - 37 2351 SO_-2111---G00817 Causal - 71
IVS5+3A>C (42+3A>C)	c.IVS5+3A>C (c.942+3A>C)	5				Causal	French MMR network	26/03/12	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2974 4_11194267663654 Causal - 4
IVS5+3A>T (42+3A>T)	c.IVS5+3A>T (c.942+3A>T)	5				Causal	French MMR network	16/11/06	112
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3254 8_475989387208-241321 Causal - 8 130 2_02-DDM3145_19610_19610 Causal - 2 131 2_02-DDM3530_19610_19610 Causal - 2 132 2_02-SSM6773_26563_26563 Causal - 2 133 2_02-DDM7842_29471_29471 Causal - 2 237 4_11276-01_27312_3822 Causal - 4 238 4_JCS1223_---_4203 Causal - 4 239 4_C95073_---_32 Causal - 4 240 4_T04074_18047_1104 Causal - 4 241 4_JCS0901_19839_2606 Causal - 4 242 4_CH0802_21722_2437/2506 Causal - 4 341 5_2003053_20031219_--- Causal - 5 342 5_2008331_20050701_AAA635 Causal - 5 343 5_2005088_P0027712_AAA656 Causal - 5 344 5_2010270_P0042537_AAE205 Causal - 5 389 6_608099_B66018_S5952 Causal - 6 473 8_32742_B043185_04-1955 Causal - 8 474 8_F1203_27061962_08-09324 Causal - 8 475 8_44224_78075_08-797021EG Causal - 8 476 8_44224_82212_08-917221EG Causal - 8 875 19_11332_11332-001_11332- Causal - 19 876 19_11332_11332-002_11332- Causal - 19 877 19_12219_12219-001_12219- Causal - 19 878 19_12527_12527-001_12527- Causal - 19 879 19_12527_12527-002_12527- Causal - 19 880 19_12731_12731-001_12731- Causal - 19 881 19_12731_12731-002_12731- Causal - 19 882 19_13305_13305-001_13305- Causal - 19 883 19_13305_13305-002_13305- Causal - 19 884 19_14162_14162-001_14162- Causal - 19 885 19_14162_14162-002_14162- Causal - 19 886 19_6810_6810-001_6810-001 Causal - 19 887 19_7726_7726-001_7726-001 Causal - 19 888 19_7726_7726-003_7726-003 Causal - 19 889 19_8472_8472-001_8472-001 Causal - 19 920 20_20-1001_1001-01_3153 Causal - 20 921 20_20-1401_1401-01_4536 Causal - 20 922 20_20-1912_1912-01_6468 Causal - 20 923 20_20-0997_0997-01_6511 Causal - 20 924 20_20-1195_1195-05_--- Causal - 20 1054 31_H730_H730-1_H730-1A Causal - 31 1055 31_H730_H730-1_H730-1B Causal - 31 1086 33_PSL 370__06-023 Causal - 33 1087 33_PSL 866__06-1281 Causal - 33 1088 33_PSL 507__06-349 Causal - 33 1089 33_PSL 875__07-011 Causal - 33 1342 37_L02.20_1390_10614 Causal - 37 1343 37_L03.05_1541_13189 Causal - 37 1344 37_F07.033_5904_56355 Causal - 37 1345 37_L08.029_6617_63332 Causal - 37 1346 37_F07.033_10522_88381 Causal - 37 1347 37_L03.05_19433_128700 Causal - 37 1348 37_L03.05_19433_129520 Causal - 37 1409 41_HNPCC018_HNPCC018001_- Causal - 41 1714 7_-5825---E040983 Causal - 7 1716 7_-58253014E040983 Causal - 7 1828 7_47913597E050240 Causal - 7 2058 7_-5196---E051490 Causal - 7 2059 7_-51964777E051490 Causal - 7 2060 7_-6129---E051491 Causal - 7 2061 7_-61294767E051491 Causal - 7 2147 7_54625104E060275 Causal - 7 2188 7_-5196---E060720 Causal - 7 2189 7_-51965405E060720 Causal - 7 2202 7_-5196---E060763 Causal - 7 2203 7_-51965434E060763 Causal - 7 2319 SO_-1707---G00164 Causal - 71 2323 SO_-1757---G00264 Causal - 71 2337 SO_-1707---G00372 Causal - 71 2338 SO_-1707---G00373 Causal - 71 2341 SO_-1890---G00680 Causal - 71 2414 SO_-2490---G01966 Causal - 71 2426 SO_-1707---G02237 Causal - 71 2427 SO_-1707---G02239 Causal - 71 2429 SO_-2633---G02275 Causal - 71 2434 SO_-2725---G02462 Causal - 71 2524 SO_-1707---G05202 Causal - 71 2579 SO_-1707---G06234 Causal - 71 2580 SO_-1707---G06236 Causal - 71 2581 SO_-1707---G06237 Causal - 71 2588 SO_-4328---G06352 Causal - 71 2589 SO_-4327---G06371 Causal - 71 2590 SO_-4284---G06380 Causal - 71 2591 SO_-4323---G06392 Causal - 71 2604 SO_-1707---G06618 Causal - 71 2605 SO_-1707---G06619 Causal - 71 2606 SO_-1707---G06620 Causal - 71 2614 SO_-4507---G06719 Causal - 71 2615 SO_-4503---G06724 Causal - 71 2697 SO_-5196---G07925 Causal - 71 2699 SO_-51963913G07925 Causal - 71 2775 SO_-5424---G08789 Causal - 71 2777 SO_-54243215G08789 Causal - 71 2879 5_201308620084739AAH319 Causal - 5 2880 19_63746374.0026374.002 Causal - 19 2975 4_SE1103270553748 Causal - 4 2976 19_L03.0514880108554 Causal - 19 3199 20_20-1195_1195-05_--- Causal - 20 3050 19_2571725717-00125717-001 Causal - 19 3051 19_2495624956.00124956.001 Causal - 19 3186 4_BCR130430851MICCH Causal - 4 3187 4_CH1219296924275 Causal - 4 3188 4_JCS1315314314580 Causal - 4 3189 19_2571725717-00325717-003 Causal - 19 3190 19_1416214162-00214162-002 Causal - 19 3191 19_2710527105-00127105-001 Causal - 19 3192 19_2697826978-00126978-001 Causal - 19 3193 19_2828928289-00128289-001 Causal - 19 3194 31_H1924H1924-1H1924-1A Causal - 31 3202 2_02-OCN1327141989215009429 Causal - 2 3222 20_20-43824382-01--- Causal - 20 3223 20_20-53755375-01--- Causal - 20
IVS5-2A>C (43-2A>C)	c.IVS5-2A>C (c.943-2A>C)	6			EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 891 19_4500_4500-001_4500-001 Causal - 19
IVS6+1G>A (76+1G>A)	c.IVS6+1G>A (c.1076+1G>A)	6-7			EXO1 stabilization	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 154 4_C94070_---_421 Causal - 4 1354 38_19_P_84 Causal - 38 1355 38_19_ANA_1625 Causal - 38
IVS6+2T>A (76+2T>A)	c.IVS6+2T>A (c.1076+2T>A)	6-7				Causal	French MMR network	22/06/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3080 37_L13.08322814141041 Causal - 37
IVS6+5G>T (76+5G>T)	c.IVS6+5G>T (c.1076+5G>T)	6-7				UV	French MMR network	23/04/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3081 19_2459224592-00124592-001 UV - 19
IVS6-10T>A (77-10T>A)	c.IVS6-10T>A (c.1077-10T>A)	6-7				UV	French MMR network	11/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3213 20_20-27472747-01--- UV - 20
IVS6-10T>C (77-10T>C)	c.IVS6-10T>C (c.1077-10T>C)	6-7			EXO1 stabilization	Neutral	French MMR network	6/02/07	39
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 6 2_02-ACT3009_14894_14894 Neutral - 2 249 5_2003034_19931991_--- Neutral - 5 250 5_2004081_---_--- Neutral - 5 251 5_2003034_19894920_AAA545 Neutral - 5 252 5_2005019_20044776_AAA566 Neutral - 5 253 5_2005125_20052065_AAA833 Neutral - 5 254 5_2005199_19894859_AAA841 Neutral - 5 255 5_2001168_20001550_AAA955 Neutral - 5 256 5_2008014_20080037_AAC200 Neutral - 5 257 5_2008032_P0034591_AAC207 Neutral - 5 633 19_5729_5729-001_5729-001 Neutral - 19 957 31_H297_1_A Neutral - 31 1063 33_PSL 778__06-1046 Neutral - 33 1064 33_PSL 794__06-1105 Neutral - 33 1412 SO_4361746771.00E+04 Neutral - 71 1417 SO_3879546751A3 Neutral - 71 1663 7_43592523E040661 Neutral - 7 1677 7_4414 (04K226)2555E04071 Neutral - 7 1695 7_5652644E040849 Neutral - 7 1708 7_4535 (04K233)2699E04097 Neutral - 7 1742 7_-57932949E041032 Neutral - 7 1764 7_4593 (04K237)2776E04114 Neutral - 7 1778 7_41773083E041200 Neutral - 7 1785 7_-58032960E041269 Neutral - 7 1805 7_-58783522E050105 Neutral - 7 1872 7_43643905E050485 Neutral - 7 1905 7_-59624002E050594 Neutral - 7 1924 7_4969 (CAL 05007)4105E05 Neutral - 7 1981 7_48784306E050942 Neutral - 7 2001 7_5166 (F529)4401E051076 Neutral - 7 2036 7_51014545E051312 Neutral - 7 2089 7_53614931E060092 Neutral - 7 2096 7_5393 (05K274)4965E06010 Neutral - 7 2103 7_5390 (547)4962E060105 Neutral - 7 2179 7_-62745369E060675 Neutral - 7 2207 7_5454 (05040)5443E060785 Neutral - 7 2557 SO_-4023---G05889 Neutral - 71 2785 SO_-56573233G08815 Neutral - 71 2807 SO_-56853260G08893 Neutral - 71
IVS6-1G>T (77-1G>T)	c.IVS6-1G>T (c.1077-1G>T)	6-7			EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 356 6_610277_201000450_S2952 Causal - 6
IVS6-2A>C (77-2A>C)	c.IVS6-2A>C (c.1077-2A>C)	6-7			EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 258 5_2006291_P0031215_AAB312 Causal - 5
IVS7+1G>A (276+1G>A)	c.IVS7+1G>A (c.1276+1G>A)	7-8				Causal	French MMR network	18/03/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3088 4_12332---4272 Causal - 4
IVS7+2T>A (276+2T>A)	c.IVS7+2T>A (c.1276+2T>A)	7-8			EXO1 stabilization	Causal	French MMR network	21/02/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 161 4_H95H007_17764_600 Causal - 4 491 17_F96015__2731 Causal - 17 966 31_H1179_H1179-1_H1179-1A Causal - 31 967 31_H1179_H1179-1_H1179-1B Causal - 31 3089 4_JCS1403333444958 Causal - 4
IVS7+3A>C (276+3A>C)	c.IVS7+3A>C (c.1276+3A>C)	7-8			EXO1 stabilization	Causal	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 17 2_02-DDM7107_26808_26808 Causal - 2
IVS7-10T>C (277-10T>C)	c.IVS7-10T>C (c.1277-10T>C)	7-8			EXO1 stabilization	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2673 SO_-5037---G07710 UV - 71
IVS7-1G>A (277-1G>A)	c.IVS7-1G>A (c.1277-1G>A)	7-8			EXO1 stabilization	Causal	French MMR network	21/02/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 413 8_F1908_19081963_08-41008 Causal - 8 2222 7_69767029E081071 Causal - 7 2937 5_2011529P0049045AAF664 Causal - 5 2995 8_F19089249008-973041EGS Causal - 8 2996 8_F19087321008-829011EGS Causal - 8
IVS7-2A>C (277-2A>C)	c.IVS7-2A>C (c.1277-2A>C)	7-8			EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 901 20_20-1503_1503-14_5054 Causal - 20
IVS7-2A>G (277-2A>G)	c.IVS7-2A>G (c.1277-2A>G)	7-8			EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 968 31_H180_H180_1_H180_1_A Causal - 31 2850 31_H1596H1596-1H1596-1A Causal - 31
IVS7-7delCTTT (277-7delCTTT)	c.IVS7-7delCTTT (c.1277-7delCTTT)	7-8			EXO1 stabilization	Likely Neutral	French MMR network	7/07/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 969 31_H180_H180_1_H180_1_A Likely Neutral - 31
IVS7-8T>C (277-8T>C)	c.IVS7-8T>C (c.1277-8T>C)	7-8			EXO1 stabilization	Neutral	French MMR network	13/12/11	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1208 37_L08.037_5253_--- Neutral - 37 2190 7_-62845433E060753 Neutral - 7 2297 7_1005283E2K266 Neutral - 7
IVS8+1G>A (386+1G>A)	c.IVS8+1G>A (c.1386+1G>A)	8				Causal	French MMR network	29/08/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2998 5_2013259AAH645 Causal - 5 2999 19_2579325793.00125793.001 Causal - 19
IVS8+1G>T (386+1G>T)	c.IVS8+1G>T (c.1386+1G>T)	8			EXO1 stabilization	Causal	French MMR network	21/02/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 165 4_C01034_---_723 Causal - 4 358 6_603006_200404613_S6762 Causal - 6 663 19_10236_10236-001_10236- Causal - 19 1824 7_-652---E050210 Causal - 7 1825 7_-6523323E050210 Causal - 7 2396 SO_-652---G01561 Causal - 71 2499 SO_-652---G04404 Causal - 71
IVS8-5del (387-5del)	c.IVS8-5del (c.1387-5del)	9			EXO1 stabilization	UV	French MMR network	20/09/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2242 7_1087811419E092158 UV - 7
IVS8-8G>T (387-8G>T)	c.IVS8-8G>T (c.1387-8G>T)	9			EXO1 stabilization	Neutral	French MMR network	18/09/09	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 30 2_02-DDM3553_20796_20796 Neutral - 2 416 8_F1446_B053111_05-1946 Neutral - 8 417 8_33701_B050813_05-0621 Neutral - 8 1067 33_PSL 453__06-212 Neutral - 33 1209 37_L06.53-E_4555_119660/1 Neutral - 37 2851 37_L13.004-E20746138245/138363 Neutral - 37
IVS9+1G>C (510+1G>C)	c.IVS9+1G>C (c.1510+1G>C)	9-10			EXO1 stabilization	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2251 7_1247213013E110468 Causal - 7 2254 7_1247214414E112057 Causal - 7 2258 7_1247214413E120161 Causal - 7
IVS9-1G>A (511-1G>A)	c.IVS9-1G>A (c.1511-1G>A)	9-10			EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 174 4_H01H03_---_515 Causal - 4
IVS9-9A>T (511-9A>T)	c.IVS9-9A>T (c.1511-9A>T)	9-10			EXO1 stabilization	Neutral	French MMR network	1/02/07	104
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 40 2_---_---_--- Neutral - 2 270 5_2002082_---_--- Neutral - 5 271 5_2003119_19870475_--- Neutral - 5 272 5_2004072_20041330_AAA199 Neutral - 5 273 5_1996036_19961642_AAC328 Neutral - 5 930 25_HUS-3436_REIVER_AMI 25 Neutral - 25 972 31_H278_1_A Neutral - 31 973 31_H25_1_C Neutral - 31 974 31_H183_H183_1_H183_1_A Neutral - 31 1373 41_HNPCC152_HNPCC152001_- Neutral - 41 1422 SO_6-046781G9 Neutral - 71 1434 SO_19-00047327C8 Neutral - 71 1437 SO_3905847338A6 Neutral - 71 1448 7_1793405E01058 Neutral - 7 1595 7_3544 (F46)1820E03523 Neutral - 7 1664 7_43592523E040661 Neutral - 7 1668 7_39522526E040663 Neutral - 7 1673 7_43172549E040705 Neutral - 7 1683 7_44242566E040751 Neutral - 7 1705 7_2343 (02K232)3399E04095 Neutral - 7 1717 7_-58213010E041001 Neutral - 7 1722 7_-58203009E041003 Neutral - 7 1726 7_-58223011E041004 Neutral - 7 1731 7_-57662831E041027 Neutral - 7 1734 7_3132882E041028 Neutral - 7 1747 7_-57992955E041034 Neutral - 7 1751 7_-58012957E041035 Neutral - 7 1759 7_45832763E041131 Neutral - 7 1775 7_4625 (F437)2797E041199 Neutral - 7 1779 7_41773083E041200 Neutral - 7 1786 7_-58032960E041269 Neutral - 7 1790 7_46353084E041286 Neutral - 7 1793 7_46483382E050007 Neutral - 7 1801 7_-58753520E050103 Neutral - 7 1814 7_47583566E050162 Neutral - 7 1817 7_47583565E050163 Neutral - 7 1829 7_48083613E050257 Neutral - 7 1836 7_46683631E050305 Neutral - 7 1849 7_48293686E050334 Neutral - 7 1854 7_4850 (F421)3705E050346 Neutral - 7 1865 7_38273846E050461 Neutral - 7 1868 7_-59283863E050478 Neutral - 7 1873 7_43643905E050485 Neutral - 7 1877 7_5583966E050517 Neutral - 7 1891 7_-59563996E050586 Neutral - 7 1894 7_-59413978E050588 Neutral - 7 1900 7_-59453982E050593 Neutral - 7 1906 7_-59624002E050594 Neutral - 7 1911 7_-59403976E050621 Neutral - 7 1914 7_43353969E050622 Neutral - 7 1919 7_48884032E050665 Neutral - 7 1928 7_4967 (05K253)4103E05071 Neutral - 7 1932 7_49764114E050714 Neutral - 7 1942 7_-59824055E050722 Neutral - 7 1945 7_-59804054E050723 Neutral - 7 1948 7_-59734051E050725 Neutral - 7 1955 7_-59944129E050766 Neutral - 7 1962 7_-60004222E050858 Neutral - 7 1964 7_-60024224E050859 Neutral - 7 1970 7_-32234246E050862 Neutral - 7 1975 7_-60314284E050928 Neutral - 7 1978 7_50874275E050940 Neutral - 7 1987 7_-60394339E050971 Neutral - 7 1990 7_33234319E050972 Neutral - 7 1995 7_5153 (05K260)4374E05105 Neutral - 7 2007 7_51784418E051171 Neutral - 7 2017 7_-60444487E051174 Neutral - 7 2021 7_-60814447E051175 Neutral - 7 2040 7_51954551E051332 Neutral - 7 2045 7_51944550E051333 Neutral - 7 2047 7_51934614E051376 Neutral - 7 2052 7_-61114751E051472 Neutral - 7 2084 7_-61644915E060037 Neutral - 7 2093 7_5394 (05K265)4966E06010 Neutral - 7 2100 7_5391 (05K273)4963E06010 Neutral - 7 2109 7_2454 (F540)4959E060108 Neutral - 7 2113 7_-61725006E060131 Neutral - 7 2126 7_54065067E060219 Neutral - 7 2130 7_-61885063E060220 Neutral - 7 2141 7_-61895036E060222 Neutral - 7 2158 7_-62195190E060404 Neutral - 7 2176 7_56405360E060652 Neutral - 7 2183 7_-62665388E060678 Neutral - 7 2185 7_-62775366E060680 Neutral - 7 2198 7_-62855429E060757 Neutral - 7 2204 7_56645444E060784 Neutral - 7 2211 7_56735465E060808 Neutral - 7 2214 7_5682 (05K276)5474E06081 Neutral - 7 2264 7_20588E2K036 Neutral - 7 2275 7_2267256E2K236 Neutral - 7 2473 SO_-3142---G03323 Neutral - 71 2534 SO_-38605380G05444 Neutral - 71 2684 SO_-51203124G07815 Neutral - 71 2700 SO_-51973127G07927 Neutral - 71 2732 SO_-54403899G08310 Neutral - 71 2764 SO_-56383224G08745 Neutral - 71 2768 SO_-56353220G08755 Neutral - 71 2786 SO_-56573233G08815 Neutral - 71 2791 SO_-56603235G08830 Neutral - 71 2803 SO_-56793256G08882 Neutral - 71 2811 SO_-54263268G08919 Neutral - 71 2823 SO_-57383087G09004 Neutral - 71 2852 25_HUS-3436REIVERAMI 25 Neutral - 25 3003 25_HUS-3436132213AMI25 Neutral - 25
IVS10+1G>A (661+1G>A)	c.IVS10+1G>A (c.1661+1G>A)	10-11			EXO1 stabilization	Causal	French MMR network	21/02/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 275 5_1998014_P0029376_AAA971 Causal - 5 423 8_43713_75958_08-694311EG Causal - 8 703 19_12915_12915-002_12915- Causal - 19 2419 SO_-2516---G02002 Causal - 71 2468 SO_-2516---G03270 Causal - 71 2647 SO_-2516---G07242 Causal - 71 2648 SO_-2516---G07243 Causal - 71
IVS10+1G>T (661+1G>T)	c.IVS10+1G>T (c.1661+1G>T)	10-11			EXO1 stabilization	Causal	French MMR network	21/02/14	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 276 5_2006140_20061991_AAB201 Causal - 5 982 31_H145_H145_1_H145_1_A Causal - 31 983 31_H145_H145_4_H145_4_A Causal - 31 984 31_H145_H145_5_H145_5_A Causal - 31 985 31_H145_H145_6_H145_6_A Causal - 31 1375 41_HNPCC152_HNPCC152001_- Causal - 41 1898 7_-5945---E050593 Causal - 7 1902 7_-59453982E050593 Causal - 7 1959 7_5008 (F501)4169E050819 Causal - 7
IVS10-2A>G (662-2A>G)	c.IVS10-2A>G (c.1662-2A>G)	10-11				Causal	French MMR network	23/04/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3099 19_2711027110-00127110-001 Causal - 19
IVS10-9G>A (662-9G>A)	c.IVS10-9G>A (c.1662-9G>A)	10-11			EXO1 stabilization	Neutral	French MMR network	29/09/09	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 44 2_02-DDM6993_27261_27261 Neutral - 2 2172 7_5616 (F600)5340E060640 Neutral - 7
IVS11+1G>T (759+1G>T)	c.IVS11+1G>T (c.1759+1G>T)	11-12			EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2753 SO_-5532---G08604 Causal - 71
IVS11+2T>G (759+2T>G)	c.IVS11+2T>G (c.1759+2T>G)	11-12			EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 718 19_9812_9812-001_9812-001 Causal - 19 719 19_9812_9812-002_9812-002 Causal - 19
IVS11+9A>C (759+9A>C)	c.IVS11+9A>C (c.1759+9A>C)	11-12			EXO1 stabilization	Neutral	French MMR network	28/01/13	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 991 31_H782_H782-1_H782-1A Neutral - 31
IVS12+1G>A (5+1G>A)	c.IVS12+1G>A (c.2005+1G>A)	12-13			ATP binding	Causal	French MMR network	21/02/14	14
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 60 2_02-ACT2885_19037_19037 Causal - 2 999 31_H859_H859-1_H859-1A Causal - 31 1238 37_L99.08_580_64422 Causal - 37 1239 37_L99.08_10451_87978 Causal - 37 1240 37_L99.08_10678_89145 Causal - 37 1241 37_L99.08_10679_89150 Causal - 37 1242 37_L99.08_11707_95205 Causal - 37 2129 7_-6188---E060220 Causal - 7 2132 7_-61885063E060220 Causal - 7 2545 SO_-3904---G05545 Causal - 71 2644 SO_-3904---G07221 Causal - 71 2661 SO_-3904---G07390 Causal - 71 2742 SO_-3904---G08456 Causal - 71 2859 37_L99.0821247135291 Causal - 37
IVS12+2del (5+2del)	c.IVS12+2del (c.2005+2del)	12-13			ATP binding	Causal	French MMR network	21/02/14	19
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 432 8_42639_24111969_08-10220 Causal - 8 433 8_42639_80316_08-304121EG Causal - 8 752 19_4187_4187-001_4187-001 Causal - 19 753 19_4187_4187-002_4187-002 Causal - 19 1954 7_-36064080E050752 Causal - 7 2449 SO_-2967---G02964 Causal - 71 2488 SO_-2967---G03614 Causal - 71 2505 SO_-3606---G04797 Causal - 71 2632 SO_-3606---G07041 Causal - 71 2719 SO_-3606---G08212 Causal - 71 2720 SO_-3606---G08213 Causal - 71 3010 19_41874187-0014187-001 Causal - 19 3011 19_41874187-0024187-002 Causal - 19 3012 19_1217212172-00112172-001 Causal - 19 3013 19_2036020360-00120360-001 Causal - 19 3014 19_2036020360-00220360-002 Causal - 19 3015 8_426397680108-133311 Causal - 8 3016 8_426397679908-923311 Causal - 8 3017 8_426397679708-723311 Causal - 8
IVS12+3A>T (5+3A>T)	c.IVS12+3A>T (c.2005+3A>T)	12-13			ATP binding	UV	French MMR network	28/03/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 909 20_20-3029_3029-01_12221 UV - 20
IVS12+9C>A (5+9C>A)	c.IVS12+9C>A (c.2005+9C>A)	12-13			ATP binding	Causal	French MMR network	9/07/15	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 434 8_42639_80316_08-304121EG Causal - 8 3018 8_426397680108-133311 Causal - 8 3019 8_426397679908-923311 Causal - 8 3020 8_426397679708-723311 Causal - 8
IVS12-2A>G (6-2A>G)	c.IVS12-2A>G (c.2006-2A>G)	12-13			ATP binding	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1071 33_TNN 053__06-995 Causal - 33 2371 SO_-2229---G01105 Causal - 71 3117 4_JCS1222291754201 Causal - 4 3208 2_DDM1364043317215125418 Causal - 2
IVS12-5T>C (6-5T>C)	c.IVS12-5T>C (c.2006-5T>C)	12-13				UV	French MMR network	24/06/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3118 17_878618316537001--- UV - 17
IVS12-6T>C (6-6T>C)	c.IVS12-6T>C (c.2006-6T>C)	12-13			ATP binding	Neutral	French MMR network	12/06/07	76
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 62 2_02-ACT1732_13833_13833 Neutral - 2 63 2_02-ACT1732_14774_14774 Neutral - 2 64 2_02-ACT1732_14894Ho_1489 Neutral - 2 292 5_2004081_---_--- Neutral - 5 293 5_2008178_20081746_AAC468 Neutral - 5 294 5_2008289_20072812_AAC606 Neutral - 5 1000 31_H297_1_A Neutral - 31 1001 31_H25_1_C Neutral - 31 1384 41_HNPCC002_HNPCC002001_- Neutral - 41 1385 41_HNPCC002_HNPCC0002004_ Neutral - 41 1386 41_HNPCC002_HNPCC002006_- Neutral - 41 1387 41_HNPCC002_HNPCC002007_- Neutral - 41 1388 41_HNPCC079_HNPCC079001_- Neutral - 41 1414 SO_4361746771.00E+04 Neutral - 71 1419 SO_3879546751A3 Neutral - 71 1428 SO_16-2546812D8 Neutral - 71 1432 SO_3875947315F11 Neutral - 71 1550 7_23981582E03273 Neutral - 7 1650 7_4355 (02K171)2481E04061 Neutral - 7 1666 7_43592523E040661 Neutral - 7 1678 7_4414 (04K226)2555E04071 Neutral - 7 1693 7_-57912947E040799 Neutral - 7 1697 7_5652644E040849 Neutral - 7 1700 7_-47313797E040889 Neutral - 7 1702 7_-47313797E040890 Neutral - 7 1710 7_4535 (04K233)2699E04097 Neutral - 7 1719 7_-58213010E041001 Neutral - 7 1744 7_-57932949E041032 Neutral - 7 1758 7_-32042914E041072 Neutral - 7 1762 7_45832763E041131 Neutral - 7 1766 7_4593 (04K237)2776E04114 Neutral - 7 1772 7_46132846E041196 Neutral - 7 1781 7_41773083E041200 Neutral - 7 1788 7_-58032960E041269 Neutral - 7 1807 7_-58783522E050105 Neutral - 7 1856 7_4850 (F421)3705E050346 Neutral - 7 1875 7_43643905E050485 Neutral - 7 1908 7_-59624002E050594 Neutral - 7 1916 7_43353969E050622 Neutral - 7 1926 7_4969 (CAL 05007)4105E05 Neutral - 7 1930 7_4967 (05K253)4103E05071 Neutral - 7 1938 7_-59724057E050720 Neutral - 7 1983 7_48784306E050942 Neutral - 7 1988 7_-60394339E050971 Neutral - 7 2003 7_5166 (F529)4401E051076 Neutral - 7 2014 7_-60424485E051173 Neutral - 7 2038 7_51014545E051312 Neutral - 7 2042 7_51954551E051332 Neutral - 7 2056 7_-61214759E051475 Neutral - 7 2063 7_-61394786E051512 Neutral - 7 2076 7_53334878E060023 Neutral - 7 2081 7_49264909E060036 Neutral - 7 2086 7_-61644915E060037 Neutral - 7 2091 7_53614931E060092 Neutral - 7 2098 7_5393 (05K274)4965E06010 Neutral - 7 2105 7_5390 (547)4962E060105 Neutral - 7 2123 7_54415072E060217 Neutral - 7 2133 7_-61885063E060220 Neutral - 7 2145 7_-61855038E060223 Neutral - 7 2151 7_-61965126E060307 Neutral - 7 2155 7_-62245184E060402 Neutral - 7 2170 7_56175336E060623 Neutral - 7 2181 7_-62745369E060675 Neutral - 7 2196 7_-62815430E060756 Neutral - 7 2209 7_5454 (05040)5443E060785 Neutral - 7 2280 7_1812262E2K241 Neutral - 7 2284 7_1840263E2K242 Neutral - 7 2287 7_1841264E2K243 Neutral - 7 2693 SO_-51883125G07917 Neutral - 71 2727 SO_-29323138G08275 Neutral - 71 2755 SO_-55623187G08631 Neutral - 71 2779 SO_-56633237G08792 Neutral - 71 2782 SO_-56273213G08794 Neutral - 71 2788 SO_-56573233G08815 Neutral - 71 2797 SO_-56733246G08867 Neutral - 71 2809 SO_-56853260G08893 Neutral - 71
IVS13+7G>T (210+7G>T)	c.IVS13+7G>T (c.2210+7G>T)	13-14			ATPase	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2710 SO_-5328---G08119 UV - 71
IVS13-10T>G (211-10T>G)	c.IVS13-10T>G (c.2211-10T>G)	13-14			ATPase	UV	French MMR network	28/04/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 80 2_02-OCN6733_26940_210284424 UV - 2 3237 19_2667226672.00126672.001 UV - 19
IVS13-1G>A (211-1G>A)	c.IVS13-1G>A (c.2211-1G>A)	13-14			ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 316 5_2010454_20100088_AAE470 Causal - 5
IVS13-6C>A (211-6C>A)	c.IVS13-6C>A (c.2211-6C>A)	13-14			ATPase	UV	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 82 2_02-DDM2166_15274_15274 UV - 2
IVS14+10A>C (458+10A>C)	c.IVS14+10A>C (c.2458+10A>C)	14-15			ATPase	UV	French MMR network	6/06/07	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1443 7_2432353E01034 UV - 7 1612 7_38732077E040292 UV - 7 1624 7_40352204E040427 UV - 7 1640 7_42812412E040559 UV - 7 1645 7_4335 (04K224)2463E04059 UV - 7 2266 7_20588E2K036 UV - 7 2267 7_20699E2K037 UV - 7 2300 7_1030284E2K267 UV - 7 2304 7_1099289E2K272 UV - 7 2310 7_1141293E2K275 UV - 7
IVS14+8C>T (458+8C>T)	c.IVS14+8C>T (c.2458+8C>T)	14-15			ATPase	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2249 7_1243412962E101800 UV - 7
IVS14-1G>T (459-1G>T)	c.IVS14-1G>T (c.2459-1G>T)	14-15			ATPase	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 782 19_3441_3441-001_3441-001 Causal - 19 783 19_3441_3441-002_3441-002 Causal - 19
IVS14-3T>G (459-3T>G)	c.IVS14-3T>G (c.2459-3T>G)	14-15			ATPase	Likely Causal	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 784 19_13168_13168-001_13168- Likely Causal - 19
IVS14-8T>G (459-8T>G)	c.IVS14-8T>G (c.2459-8T>G)	14-15			ATPase	Causal	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 374 6_606058_200600376_S8890 Causal - 6
IVS15+1G>A (634+1G>A)	c.IVS15+1G>A (c.2634+1G>A)	15			MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 940 25_14534_P14534_1_ABD26 Causal - 25 2869 2_02-DDM999933464212312402 Causal - 2 2870 25_HCC-1365DURBRUNADK75 Causal - 25
IVS15+1G>T (634+1G>T)	c.IVS15+1G>T (c.2634+1G>T)	15			MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 941 25_HCC-1365_DURBRUN_ADK75 Causal - 25 942 25_HCC-1365_DURPRE_APM83 Causal - 25 943 25_HCC-1365_DURPRI_ARG14 Causal - 25 2336 SO_-1179---G00364 Causal - 71 2362 SO_-1179---G01019 Causal - 71
IVS15+5G>C (634+5G>C)	c.IVS15+5G>C (c.2634+5G>C)	15			MSH3/MSH6 interaction	Likely Causal	French MMR network	14/01/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1020 31_H1006_H1006-1_H1006-1A Likely Causal - 31
IVS15+5G>T (634+5G>T)	c.IVS15+5G>T (c.2634+5G>T)	15			MSH3/MSH6 interaction	Likely Causal	French MMR network	28/01/13	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 789 19_13815_13815-001_13815- Likely Causal - 19 790 19_13815_13815-002_13815- Likely Causal - 19 791 19_13815_13815-003_13815- Likely Causal - 19 792 19_13815_13815-004_13815- Likely Causal - 19 2740 SO_-5446---G08403 Likely Causal - 71 2871 19_2428724287.00124287.001 Likely Causal - 19
IVS15-1G>C (635-1G>C)	c.IVS15-1G>C (c.2635-1G>C)	16			MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2436 SO_-2760---G02562 Causal - 71 3249 8_466718967908-367141 Causal - 8
IVS15-1G>T (635-1G>T)	c.IVS15-1G>T (c.2635-1G>T)	16			MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1440 7_-739C010027 Causal - 7 1507 7_7631205E02377 Causal - 7 1508 7_7631205E02377 Causal - 7
IVS15-3C>A (635-3C>A)	c.IVS15-3C>A (c.2635-3C>A)	16			MSH3/MSH6 interaction	UV	French MMR network	6/06/07	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 793 19_531_531-001_531-001-1 UV - 19 794 19_531_531-002_531-002-1 UV - 19 795 19_531_531-003_531-003-1 UV - 19 796 19_531_531-004_531-004-1 UV - 19 797 19_531_531-007_531-007-1 UV - 19 798 19_531_531-009_531-009-1 UV - 19 2748 SO_-5496---G08512 UV - 71
IVS15-3C>T (635-3C>T)	c.IVS15-3C>T (c.2635-3C>T)	16			MSH3/MSH6 interaction	UV	French MMR network	22/09/09	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 377 6_601146_20063661_S7476 UV - 6
IVS15-8T>G (635-8T>G)	c.IVS15-8T>G (c.2635-8T>G)	16			MSH3/MSH6 interaction	Causal	French MMR network	13/12/11	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 93 2_02-ACT2422_16438_16438 Causal - 2 94 2_02-ACT2422_16438_16438 Causal - 2 443 8_F165_B031030_G1 - 7 Causal - 8 3033 31_H199H199-4H199-4A Causal - 31 3034 31_H199H199-5H199-5A Causal - 31