The UMD-MSH2 mutations database
Mid-intronic mutations (361 records)

    Request ID: 521549275573

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
IVS1+98T>C (11+98T>C)	c.IVS1+98T>C (c.211+98T>C)	1-2			Mismatch binding	Neutral	French MMR network	6/02/07	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 72 2_02-DDM2744_18675_18675 Neutral - 2 73 2_---_---_--- Neutral - 2
IVS2-27A>C (67-27A>C)	c.IVS2-27A>C (c.367-27A>C)	3			Mismatch binding	Neutral	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 104 2_02-DDM7122_30036_30036 Neutral - 2
IVS2-46delC (67-46delC)	c.IVS2-46delC (c.367-46delC)	3			Mismatch binding	UV	French MMR network	11/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3201 2_DDM118142136215019468 UV - 2
IVS2-49A>T (67-49A>T)	c.IVS2-49A>T (c.367-49A>T)	3			Mismatch binding	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2875 2_02-OCN816329358211228420 UV - 2
IVS3+35C>T (45+35C>T)	c.IVS3+35C>T (c.645+35C>T)	3				UV	French MMR network	9/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3200 2_DDM1356243058215089465 UV - 2
IVS3-20A>C (46-20A>C)	c.IVS3-20A>C (c.646-20A>C)	4			Connector	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2730 SO_-53243139 (G08303)G083 UV - 71
IVS4+96A>T (92+96A>T)	c.IVS4+96A>T (c.792+96A>T)	4			EXO1 stabilization	UV	French MMR network	5/06/07	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1542 7_33311539E03226 UV - 7 1637 7_4204 (04/25)2322E040520 UV - 7 1649 7_4352 (02B363)2477E04061 UV - 7 2774 SO_-51223218G08785 UV - 71
IVS4-23G>A (93-23G>A)	c.IVS4-23G>A (c.793-23G>A)	5			EXO1 stabilization	Neutral	French MMR network	29/09/09	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 121 2_02-ACT1936_14831_14831 Neutral - 2 122 2_PLP-HEGP EXT53_15561_15 Neutral - 2 123 2_02-DDM3108_16165_16165 Neutral - 2 124 2_02-DDM2676_18508_18508 Neutral - 2 3178 37_P08.14717667677 Neutral - 37
IVS5+124T>A (42+124T>A)	c.IVS5+124T>A (c.942+124T>A)	5			EXO1 stabilization	UV	French MMR network	16/01/12	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 129 2_02-DDM4945_24362_24362 UV - 2
IVS5+19del11 (42+19del11)	c.IVS5+19del11 (c.942+19del11)	5			EXO1 stabilization	Neutral	French MMR network	16/11/06	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2364 SO_-2209---G01052 Neutral - 71
IVS5+28del2 (42+28del2)	c.IVS5+28del2 (c.942+28del2)	5			EXO1 stabilization	UV	French MMR network	5/06/07	13
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1450 7_2001404E01059 UV - 7 1453 7_2160413E01100 UV - 7 1455 7_2523416E01101 UV - 7 1465 7_444453E01139 UV - 7 1471 7_2231569E01257 UV - 7 1475 7_2600581E01271 UV - 7 1478 7_2764626E02022 UV - 7 1497 7_2318963E02299 UV - 7 1498 7_3004980E02300 UV - 7 2278 7_2125259E2K239 UV - 7 2292 7_1717269E2K248 UV - 7 2294 7_2398270E2K249 UV - 7 2307 7_1068292E2K274 UV - 7
IVS6-11delATTTA (77-11delATTTA)	c.IVS6-11delATTTA (c.1077-11delATTTA)	6-7			Lever	UV	French MMR network	28/04/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2846 31_H1617H1617-1H1617-1A UV - 31 3082 29311_29311-00129311-001 UV - 19
IVS6-43T>G (77-43T>G)	c.IVS6-43T>G (c.1077-43T>G)	6-7			EXO1 stabilization	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1691 7_-57912947E040799 UV - 7
IVS6-58G>T (77-58G>T)	c.IVS6-58G>T (c.1077-58G>T)	6-7			EXO1 stabilization	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1368 41_HNPCC202_HNPCC202001_- UV - 41
IVS6-80G>A (77-80G>A)	c.IVS6-80G>A (c.1077-80G>A)	6-7			EXO1 stabilization	Neutral	French MMR network	6/02/07	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 7 2_---_---_--- Neutral - 2 8 2_---_---_--- Neutral - 2
IVS7+11A>G (276+11A>G)	c.IVS7+11A>G (c.1276+11A>G)	7-8			EXO1 stabilization	Neutral	French MMR network	26/09/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 645 19_14769_14769-001_14769- Neutral - 19
IVS7+47T>A (276+47T>A)	c.IVS7+47T>A (c.1276+47T>A)	7-8				UV	French MMR network	29/08/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2994 2_02-DDM1024836306213224443 UV - 2
IVS7+51C>A (276+51C>A)	c.IVS7+51C>A (c.1276+51C>A)	7-8			MSH3/MSH6 interaction	UV	French MMR network	23/01/13	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 18 2_02-ACT2284_15564_15564 UV - 2 19 2_02-ACT3042_19355_19355 UV - 2
IVS7-11delCTT (277-11delCTT)	c.IVS7-11delCTT (c.1277-11delCTT)	7-8			EXO1 stabilization	Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 479 14_NANTES?_04C065_04C065 Neutral - 14
IVS7-67A>G (277-67A>G)	c.IVS7-67A>G (c.1277-67A>G)	7-8			EXO1 stabilization	Neutral	French MMR network	13/12/11	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 22 2_02-ACT3042_19355_19355 Neutral - 2
IVS8+104C>T (386+104C>T)	c.IVS8+104C>T (c.1386+104C>T)	8			EXO1 stabilization	Neutral	French MMR network	19/09/09	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 23 2_02-ACT1924_14855_14855 Neutral - 2 24 2_02-ACT2098_15121_15121 Neutral - 2 25 2_02-ACT2324_15652_15652 Neutral - 2 26 2_HEGP-HNPCC169 EXT87_190 Neutral - 2
IVS8+28A>G (386+28A>G)	c.IVS8+28A>G (c.1386+28A>G)	8			EXO1 stabilization	UV	French MMR network	18/03/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2230 7_981610221E090208 UV - 7
IVS8+52G>C (386+52G>C)	c.IVS8+52G>C (c.1386+52G>C)	8				UV	French MMR network	29/08/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3000 2_02-DDM973838153214027503 UV - 2
IVS8-72G>A (387-72G>A)	c.IVS8-72G>A (c.1387-72G>A)	9				UV	French MMR network	17/04/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3092 31_H1840H1840-1H1840-1A UV - 31
IVS8-77T>G (387-77T>G)	c.IVS8-77T>G (c.1387-77T>G)	9			EXO1 stabilization	Likely Neutral	French MMR network	13/12/11	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 29 2_02-DDM3849_21496_21496 Likely Neutral - 2 3001 2_02-DDM1123237144213308472 Likely Neutral - 2
IVS9+111T>C (510+111T>C)	c.IVS9+111T>C (c.1510+111T>C)	9-10			EXO1 stabilization	Neutral	French MMR network	31/01/07	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 32 2_---_---_--- Neutral - 2 33 2_---_---_--- Neutral - 2 1370 41_HNPCC180_HNPCC180001_- Neutral - 41
IVS9+115A>G (510+115A>G)	c.IVS9+115A>G (c.1510+115A>G)	9-10			EXO1 stabilization	Neutral	French MMR network	31/01/07	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 34 2_---_---_--- Neutral - 2 35 2_---_---_--- Neutral - 2 1371 41_HNPCC180_HNPCC180001_- Neutral - 41
IVS9+118T>C (510+118T>C)	c.IVS9+118T>C (c.1510+118T>C)	9-10			EXO1 stabilization	Neutral	French MMR network	31/01/07	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 36 2_---_---_--- Neutral - 2 37 2_---_---_--- Neutral - 2 1372 41_HNPCC180_HNPCC180001_- Neutral - 41
IVS9+29delAAT (510+29delAAT)	c.IVS9+29delAAT (c.1510+29delAAT)	9-10			EXO1 stabilization	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1456 7_1916418E01103 UV - 7
IVS9-29T>C (511-29T>C)	c.IVS9-29T>C (c.1511-29T>C)	9-10			EXO1 stabilization	UV	French MMR network	5/06/07	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1913 7_43353969E050622 UV - 7 2243 7_1105411593E092360 UV - 7 3094 19_2459224592-00124592-001 UV - 19
IVS9-41G>C (511-41G>C)	c.IVS9-41G>C (c.1511-41G>C)	9-10			EXO1 stabilization	UV	French MMR network	28/04/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1211 37_L12.043-E_19166_127617 UV - 37
IVS9-91G>T (511-91G>T)	c.IVS9-91G>T (c.1511-91G>T)	9-10			EXO1 stabilization	Neutral	French MMR network	31/01/07	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 38 2_---_---_--- Neutral - 2 39 2_---_---_--- Neutral - 2
IVS10+12G>A (661+12G>A)	c.IVS10+12G>A (c.1661+12G>A)	10-11			EXO1 stabilization	Neutral	French MMR network	31/01/07	263
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 42 2_---_---_--- Neutral - 2 43 2_---_---_--- Neutral - 2 274 5_2002082_---_--- Neutral - 5 931 25_HUS-3436_REIVER_AMI 25 Neutral - 25 977 31_H278_1_A Neutral - 31 978 31_H291_1_A Neutral - 31 979 31_H297_1_A Neutral - 31 980 31_H25_1_C Neutral - 31 981 31_H183_H183_1_H183_1_A Neutral - 31 1374 41_HNPCC152_HNPCC152001_- Neutral - 41 1413 SO_4361746771.00E+04 Neutral - 71 1418 SO_3879546751A3 Neutral - 71 1423 SO_6-046781G9 Neutral - 71 1427 SO_16-2546812D8 Neutral - 71 1431 SO_3875947315F11 Neutral - 71 1435 SO_19-00047327C8 Neutral - 71 1438 SO_3905847338A6 Neutral - 71 1451 7_11121483E01081 Neutral - 7 1452 7_2160413E01100 Neutral - 7 1454 7_2523416E01101 Neutral - 7 1466 7_1962463E01148 Neutral - 7 1467 7_1962463E01148 Neutral - 7 1472 7_2600581E01271 Neutral - 7 1480 7_2637644E02055 Neutral - 7 1482 7_2788651E02069 Neutral - 7 1486 7_2827686E02122 Neutral - 7 1488 7_2823700E02123 Neutral - 7 1489 7_357721E02124 Neutral - 7 1493 7_2899778E02180 Neutral - 7 1494 7_2952979E02293 Neutral - 7 1496 7_2318963E02299 Neutral - 7 1500 7_30701210E02356 Neutral - 7 1501 7_30061123E02370 Neutral - 7 1502 7_17571120E02371 Neutral - 7 1504 7_30551127E02373 Neutral - 7 1505 7_2851204E02376 Neutral - 7 1509 7_5581247E02378 Neutral - 7 1510 7_6981248E02380 Neutral - 7 1513 7_17651235E02398 Neutral - 7 1514 7_17691239E02399 Neutral - 7 1515 7_9041259E02404 Neutral - 7 1516 7_2694556E03013 Neutral - 7 1519 7_31161373E03038 Neutral - 7 1523 7_31501409E03072 Neutral - 7 1525 7_29571415E03083 Neutral - 7 1527 7_28151433E03113 Neutral - 7 1529 7_6961445E03141 Neutral - 7 1530 7_6971446E03142 Neutral - 7 1537 7_27881504E03188 Neutral - 7 1539 7_10011516E03195 Neutral - 7 1541 7_33311539E03226 Neutral - 7 1543 7_15091564E03262 Neutral - 7 1546 7_33261578E03268 Neutral - 7 1549 7_23981582E03273 Neutral - 7 1559 7_34171597E03297 Neutral - 7 1561 7_32391594E03299 Neutral - 7 1563 7_34691635E03350 Neutral - 7 1567 7_35001650E03372 Neutral - 7 1571 7_35161651E03392 Neutral - 7 1577 7_33141668E03395 Neutral - 7 1579 7_32391671E03396 Neutral - 7 1580 7_35421680E03413 Neutral - 7 1581 7_6951691E03415 Neutral - 7 1582 7_6141697E03436 Neutral - 7 1583 7_19641698E03437 Neutral - 7 1585 7_10941701E03438 Neutral - 7 1587 7_35661709E03456 Neutral - 7 1592 7_4591763E03517 Neutral - 7 1596 7_3544 (F46)1820E03523 Neutral - 7 1598 7_36851792E03550 Neutral - 7 1599 7_34031805E040020 Neutral - 7 1601 7_37011828E040033 Neutral - 7 1602 7_37511954E040230 Neutral - 7 1603 7_3780 (F79)2047E040232 Neutral - 7 1604 7_3674 (03.76)1989E040238 Neutral - 7 1605 7_1459 (95.20/03.84)1837E Neutral - 7 1606 7_3803 (04K206)1992E04025 Neutral - 7 1607 7_3819 (00K98)2003E040255 Neutral - 7 1609 7_37481987E040256 Neutral - 7 1610 7_3653 (F315)1988E040257 Neutral - 7 1614 7_39462121E040333 Neutral - 7 1616 7_3977 (F347)2137E040359 Neutral - 7 1617 7_3982 (04K213)2142E04036 Neutral - 7 1618 7_3986 (02K209)2146E04036 Neutral - 7 1620 7_4049 (F231 ISC)2192E040 Neutral - 7 1621 7_4051 (04K216)2196E04042 Neutral - 7 1625 7_4067 (04K212)2206E04042 Neutral - 7 1626 7_3970 (C51)2280E040431 Neutral - 7 1628 7_3957 (E69)2210E040458 Neutral - 7 1629 7_4077 (0403801)2212E0404 Neutral - 7 1631 7_4152 (04K220)2317E04048 Neutral - 7 1634 7_4142 (370 ISC)2311E0404 Neutral - 7 1635 7_41672326E040509 Neutral - 7 1638 7_4184 (F381 ISC)2343E040 Neutral - 7 1644 7_4335 (04K224)2463E04059 Neutral - 7 1646 7_4347 (F376 ISC)2473E040 Neutral - 7 1652 7_4128 (04062)2490E040627 Neutral - 7 1653 7_43602483E040628 Neutral - 7 1654 7_2972484E040629 Neutral - 7 1656 7_43632498E040638 Neutral - 7 1658 7_20702505E040640 Neutral - 7 1661 7_43852506E040649 Neutral - 7 1665 7_43592523E040661 Neutral - 7 1669 7_39522526E040663 Neutral - 7 1671 7_41062542E040685 Neutral - 7 1674 7_43172549E040705 Neutral - 7 1684 7_44242566E040751 Neutral - 7 1688 7_44222613E040794 Neutral - 7 1692 7_-57912947E040799 Neutral - 7 1696 7_5652644E040849 Neutral - 7 1706 7_2343 (02K232)3399E04095 Neutral - 7 1709 7_4535 (04K233)2699E04097 Neutral - 7 1712 7_1509 (04K234)2697E04097 Neutral - 7 1718 7_-58213010E041001 Neutral - 7 1723 7_-58203009E041003 Neutral - 7 1727 7_-58223011E041004 Neutral - 7 1729 7_-57702852E041025 Neutral - 7 1732 7_-57662831E041027 Neutral - 7 1735 7_3132882E041028 Neutral - 7 1737 7_-58102971E041029 Neutral - 7 1740 7_-58082969E041030 Neutral - 7 1743 7_-57932949E041032 Neutral - 7 1748 7_-57992955E041034 Neutral - 7 1752 7_-58012957E041035 Neutral - 7 1755 7_-58142980E041036 Neutral - 7 1760 7_45832763E041131 Neutral - 7 1765 7_4593 (04K237)2776E04114 Neutral - 7 1771 7_46132846E041196 Neutral - 7 1776 7_4625 (F437)2797E041199 Neutral - 7 1780 7_41773083E041200 Neutral - 7 1787 7_-58032960E041269 Neutral - 7 1791 7_46353084E041286 Neutral - 7 1794 7_46483382E050007 Neutral - 7 1802 7_-58753520E050103 Neutral - 7 1806 7_-58783522E050105 Neutral - 7 1812 7_47583567E050161 Neutral - 7 1815 7_47583566E050162 Neutral - 7 1818 7_47583565E050163 Neutral - 7 1830 7_48083613E050257 Neutral - 7 1837 7_46683631E050305 Neutral - 7 1850 7_48293686E050334 Neutral - 7 1855 7_4850 (F421)3705E050346 Neutral - 7 1866 7_38273846E050461 Neutral - 7 1869 7_-59283863E050478 Neutral - 7 1874 7_43643905E050485 Neutral - 7 1878 7_5583966E050517 Neutral - 7 1892 7_-59563996E050586 Neutral - 7 1895 7_-59413978E050588 Neutral - 7 1901 7_-59453982E050593 Neutral - 7 1907 7_-59624002E050594 Neutral - 7 1912 7_-59403976E050621 Neutral - 7 1915 7_43353969E050622 Neutral - 7 1920 7_48884032E050665 Neutral - 7 1925 7_4969 (CAL 05007)4105E05 Neutral - 7 1929 7_4967 (05K253)4103E05071 Neutral - 7 1933 7_49764114E050714 Neutral - 7 1937 7_-59724057E050720 Neutral - 7 1940 7_-59814056E050721 Neutral - 7 1943 7_-59824055E050722 Neutral - 7 1946 7_-59804054E050723 Neutral - 7 1949 7_-59734051E050725 Neutral - 7 1956 7_-59944129E050766 Neutral - 7 1963 7_-60004222E050858 Neutral - 7 1965 7_-60024224E050859 Neutral - 7 1971 7_-32234246E050862 Neutral - 7 1976 7_-60314284E050928 Neutral - 7 1979 7_50874275E050940 Neutral - 7 1982 7_48784306E050942 Neutral - 7 1991 7_33234319E050972 Neutral - 7 1993 7_51214355E050988 Neutral - 7 1996 7_5153 (05K260)4374E05105 Neutral - 7 1998 7_5158 (F504)4379E051061 Neutral - 7 2002 7_5166 (F529)4401E051076 Neutral - 7 2008 7_51784418E051171 Neutral - 7 2012 7_-60424485E051173 Neutral - 7 2018 7_-60444487E051174 Neutral - 7 2022 7_-60814447E051175 Neutral - 7 2030 7_-60724428E051206 Neutral - 7 2037 7_51014545E051312 Neutral - 7 2041 7_51954551E051332 Neutral - 7 2046 7_51944550E051333 Neutral - 7 2048 7_51934614E051376 Neutral - 7 2053 7_-61114751E051472 Neutral - 7 2055 7_-61214759E051475 Neutral - 7 2062 7_-61394786E051512 Neutral - 7 2072 7_-61564857E051622 Neutral - 7 2075 7_53334878E060023 Neutral - 7 2078 7_53454906E060029 Neutral - 7 2080 7_49264909E060036 Neutral - 7 2085 7_-61644915E060037 Neutral - 7 2090 7_53614931E060092 Neutral - 7 2094 7_5394 (05K265)4966E06010 Neutral - 7 2097 7_5393 (05K274)4965E06010 Neutral - 7 2101 7_5391 (05K273)4963E06010 Neutral - 7 2104 7_5390 (547)4962E060105 Neutral - 7 2110 7_2454 (F540)4959E060108 Neutral - 7 2114 7_-61725006E060131 Neutral - 7 2116 7_-61814987E060133 Neutral - 7 2122 7_54415072E060217 Neutral - 7 2127 7_54065067E060219 Neutral - 7 2131 7_-61885063E060220 Neutral - 7 2138 7_-61865037E060221 Neutral - 7 2142 7_-61895036E060222 Neutral - 7 2144 7_-61855038E060223 Neutral - 7 2150 7_-61965126E060307 Neutral - 7 2154 7_-62245184E060402 Neutral - 7 2159 7_-62195190E060404 Neutral - 7 2164 7_-62465274E060575 Neutral - 7 2167 7_2454 (540 ISC)5296E0605 Neutral - 7 2169 7_56175336E060623 Neutral - 7 2177 7_56405360E060652 Neutral - 7 2180 7_-62745369E060675 Neutral - 7 2186 7_-62775366E060680 Neutral - 7 2191 7_-62845433E060753 Neutral - 7 2193 7_-62835432E060754 Neutral - 7 2194 7_-62825431E060755 Neutral - 7 2195 7_-62815430E060756 Neutral - 7 2199 7_-62855429E060757 Neutral - 7 2205 7_56645444E060784 Neutral - 7 2208 7_5454 (05040)5443E060785 Neutral - 7 2212 7_56735465E060808 Neutral - 7 2215 7_5682 (05K276)5474E06081 Neutral - 7 2260 7_2651E2K030 Neutral - 7 2262 7_12134E2K034 Neutral - 7 2263 7_12134E2K034 Neutral - 7 2265 7_20588E2K036 Neutral - 7 2270 7_222755E2K081 Neutral - 7 2272 7_2277113E2K110 Neutral - 7 2273 7_2391226E2K184 Neutral - 7 2276 7_2267256E2K236 Neutral - 7 2279 7_1812262E2K241 Neutral - 7 2283 7_1840263E2K242 Neutral - 7 2286 7_1841264E2K243 Neutral - 7 2290 7_1698268E2K247 Neutral - 7 2293 7_2398270E2K249 Neutral - 7 2299 7_1005283E2K266 Neutral - 7 2306 7_1068292E2K274 Neutral - 7 2309 7_1141293E2K275 Neutral - 7 2313 7_1475296E970023 Neutral - 7 2314 7_1545488E980027 Neutral - 7 2367 SO_-22204089G01065 Neutral - 71 2535 SO_-38605380G05444 Neutral - 71 2685 SO_-51203124G07815 Neutral - 71 2692 SO_-51883125G07917 Neutral - 71 2701 SO_-51973127G07927 Neutral - 71 2733 SO_-54403899G08310 Neutral - 71 2754 SO_-55623187G08631 Neutral - 71 2762 SO_-56423226G08742 Neutral - 71 2765 SO_-56383224G08745 Neutral - 71 2769 SO_-56353220G08755 Neutral - 71 2778 SO_-56633237G08792 Neutral - 71 2781 SO_-56273213G08794 Neutral - 71 2787 SO_-56573233G08815 Neutral - 71 2792 SO_-56603235G08830 Neutral - 71 2796 SO_-56733246G08867 Neutral - 71 2799 SO_-56723245G08869 Neutral - 71 2804 SO_-56793256G08882 Neutral - 71 2808 SO_-56853260G08893 Neutral - 71 2812 SO_-54263268G08919 Neutral - 71 2816 SO_-57023272G08959 Neutral - 71 2824 SO_-57383087G09004 Neutral - 71 2853 25_HUS-3770DOJEGAARA97 Neutral - 25 3004 25_HUS-3436132213AMI25 Neutral - 25
IVS10-18T>C (662-18T>C)	c.IVS10-18T>C (c.1662-18T>C)	10-11			EXO1 stabilization	Neutral	French MMR network	9/12/13	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 278 5_2011438_20113682_AAF518 Neutral - 5 2854 5_201143820113682AAF518 Neutral - 5
IVS10-43C>T (662-43C>T)	c.IVS10-43C>T (c.1662-43C>T)	10-11			EXO1 stabilization	UV	French MMR network	28/05/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 986 31_H459_H459-1_H459-1A UV - 31
IVS11+107A>G (759+107A>G)	c.IVS11+107A>G (c.1759+107A>G)	11-12			EXO1 stabilization	Neutral	French MMR network	19/09/09	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 53 2_---_---_--- Neutral - 2 54 2_---_---_--- Neutral - 2
IVS11+183G>A (759+183G>A)	c.IVS11+183G>A (c.1759+183G>A)	11-12			EXO1 stabilization	Neutral	French MMR network	19/09/09	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 55 2_---_---_--- Neutral - 2 56 2_---_---_--- Neutral - 2
IVS11-44A>C (760-44A>C)	c.IVS11-44A>C (c.1760-44A>C)	11-12			EXO1 stabilization	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2660 SO_-4887---G07364 UV - 71
IVS11-55A>G (760-55A>G)	c.IVS11-55A>G (c.1760-55A>G)	11-12				UV	French MMR network	29/08/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3007 2_02-DDM1050634872213085417 UV - 2
IVS11-62G>A (760-62G>A)	c.IVS11-62G>A (c.1760-62G>A)	11-12			EXO1 stabilization	Neutral	French MMR network	12/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 57 2_---_---_--- Neutral - 2
IVS12-42delAGAA (6-42delAGAA)	c.IVS12-42delAGAA (c.2006-42delAGAA)	12-13			ATP binding	UV	French MMR network	16/01/12	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 61 2_02-DDM4664_23588_23588 UV - 2
IVS12-50delTAG (6-50delTAG)	c.IVS12-50delTAG (c.2006-50delTAG)	12-13				UV	French MMR network	17/11/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3056 31_H1797H1797-1H1797-1A UV - 31
IVS13-14A>C (211-14A>C)	c.IVS13-14A>C (c.2211-14A>C)	13-14				UV	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3256 8_466718967908-367141 UV - 8
IVS13-15A>C (211-15A>C)	c.IVS13-15A>C (c.2211-15A>C)	13-14			ATPase	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1506 7_7631205E02377 UV - 7
IVS13-51A>G (211-51A>G)	c.IVS13-51A>G (c.2211-51A>G)	13-14			ATPase	Neutral	French MMR network	29/09/09	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 81 2_02-NJ21_718_718 Neutral - 2
IVS14+36G>A (458+36G>A)	c.IVS14+36G>A (c.2458+36G>A)	14-15			ATPase	UV	French MMR network	6/06/07	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1459 7_1916418E01103 UV - 7 1462 7_444453E01139 UV - 7 1470 7_2231569E01257 UV - 7 1474 7_2600581E01271 UV - 7 1477 7_2764626E02022 UV - 7 1479 7_2746633E02054 UV - 7
IVS14-12A>G (459-12A>G)	c.IVS14-12A>G (c.2459-12A>G)	14-15				UV	French MMR network	29/08/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3031 31_H1308H1308-4H1308-4A UV - 31 3140 31_H1308H1308-5H1308-5A UV - 31
IVS14-38T>G (459-38T>G)	c.IVS14-38T>G (c.2459-38T>G)	14-15			ATPase	Likely Neutral	French MMR network	9/07/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 85 2_02-DDM4321_1968_19684412 Likely Neutral - 2
IVS15-106T>A (635-106T>A)	c.IVS15-106T>A (c.2635-106T>A)	16				UV	French MMR network	17/04/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3151 31_H1814H1814-1H1814-1A UV - 31
IVS15-112del (635-112del)	c.IVS15-112del (c.2635-112del)	16			MSH3/MSH6 interaction	UV	French MMR network	21/09/10	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1021 31_H940_H940-1_H940-1A UV - 31
IVS15-11A>G (635-11A>G)	c.IVS15-11A>G (c.2635-11A>G)	16			MSH3/MSH6 interaction	UV	French MMR network	6/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2157 7_-62245184E060402 UV - 7
IVS15-24A>G (635-24A>G)	c.IVS15-24A>G (c.2635-24A>G)	16			MSH3/MSH6 interaction	UV	French MMR network	2/05/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2872 37_L13.10722876144305 UV - 37 3152 37_L14.03325458155732 UV - 37
IVS15-26T>C (635-26T>C)	c.IVS15-26T>C (c.2635-26T>C)	16				UV	French MMR network	24/06/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3153 17_131767518474001--- UV - 17