The UMD-MSH2 mutations database
Nonsense mutations (379 records)

    Request ID: 531549292880

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
166G>T	c.166G>T	1		p.Glu56X	Mismatch binding	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 48 2_02-ACT1050bis_14703_147 Causal - 2 282 5_2010004_P0040956_AAD852 Causal - 5
175A>T	c.175A>T	1		p.Lys59X	Mismatch binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 364 6_605058_B00059365_S2626 Causal - 6
181C>T	c.181C>T	1		p.Gln61X	Mismatch binding	Causal	French MMR network	21/02/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 365 6_609247_B00067893_S0570 Causal - 6 738 19_11328_11328-001_11328- Causal - 19 739 19_11328_11328-002_11328- Causal - 19 1357 38_29_P_129 Causal - 38 1358 38_29_ANA_130 Causal - 38 1359 38_849_---_1795 Causal - 38 3225 4_Va312357475417 Causal - 4
193A>T	c.193A>T	1		p.Lys65X	Mismatch binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 366 6_611355_B00069847_S 3896 Causal - 6
198C>G	c.198C>G	1		p.Tyr66X	Mismatch binding	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 749 19_2543_2543-001_2543-001 Causal - 19 750 19_2543_2543-002_2543-002 Causal - 19 751 19_2543_2543-006_2543-006 Causal - 19
226C>T	c.226C>T	2		p.Gln76X	Mismatch binding	Causal	French MMR network	21/02/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 373 6_603018_200500499_S3554 Causal - 6 441 8_3624_17021957_08-107270 Causal - 8 1880 7_-4863---E050538 Causal - 7 1881 7_-48633928E050538 Causal - 7 2656 SO_-4863---G07333 Causal - 71 2831 SO_-48633104G09029 Causal - 71
350G>A	c.350G>A	2		p.Trp117X	Mismatch binding	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2248 7_1215212672E101414 Causal - 7 2257 7_1215715203E120033 Causal - 7
388C>T	c.388C>T	3		p.Gln130X	Connector	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 381 6_610113_B68566_S9442 Causal - 6 2964 4_CH1009250863219 Causal - 4 2965 8_443967918908-646021EGS Causal - 8
394G>T	c.394G>T	3		p.Glu132X	Connector	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2406 SO_-2422---G01765 Causal - 71
425C>A	c.425C>A	3		p.Ser142X	Connector	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 809 19_4768_4768-001_4768-001 Causal - 19 810 19_4768_4768-002_4768-002 Causal - 19 811 19_4768_4768-003_4768-003 Causal - 19
478C>T	c.478C>T	3		p.Gln160X	Connector	Causal	French MMR network	21/02/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 816 19_14319_14319-001_14319- Causal - 19 817 19_14319_14319-002_14319- Causal - 19 1405 41_HNPCC060_HNPCC060001_- Causal - 41 2609 SO_-4461---G06658 Causal - 71 2616 SO_-4461---G06751 Causal - 71
508C>T	c.508C>T	3		p.Gln170X	Connector	Causal	French MMR network	21/02/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 220 4_CF1131_---_--- Causal - 4 450 8_35692_B053099_v Causal - 8 451 8_35692_B053510_35186 Causal - 8 452 8_34479_82871_08-530021OR Causal - 8 453 8_34479_9101990_08-822280 Causal - 8 454 8_34479_4051966_08-922280 Causal - 8
529G>T	c.529G>T	3		p.Glu177X	Connector	Causal	French MMR network	21/02/14	14
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 114 2_02-ACT2088_11322_11322 Causal - 2 222 4_CH0801_21420_2314/2367 Causal - 4 336 5_2001172_---_--- Causal - 5 382 6_604061_19874805_--- Causal - 6 1034 31_H117_H117_1_H117_1_A Causal - 31 1035 31_H117_H117_2_H117_2_A Causal - 31 1036 31_H117_H117-6_H117-6A Causal - 31 1037 31_H678_H678-1_H678-1A Causal - 31 1769 7_4602 (F432)2782E041148 Causal - 7 2149 7_4602 (F432 ISC)5108E060 Causal - 7 2551 SO_-3968---G05766 Causal - 71 2759 SO_-5573---G08704 Causal - 71 2968 5_201139220113259AAF472 Causal - 5 2969 31_H117H117-4H117-4A Causal - 31
547C>T	c.547C>T	3		p.Gln183X	Connector	Causal	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3252 8_479399216108-758141 Causal - 8
583G>T	c.583G>T	3		p.Gly195X	Connector	Causal	French MMR network	24/06/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3174 17_130457716416001--- Causal - 17
592G>T	c.592G>T	3		p.Glu198X	Connector	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2033 7_-6065---E051239 Causal - 7 2034 7_-60654505E051239 Causal - 7
643C>T	c.643C>T	3		p.Gln215X	Connector	Causal	French MMR network	11/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3218 20_20-43654365-01--- Causal - 20
754C>T	c.754C>T	4		p.Gln252X	Connector	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 233 4_SE0910_23721_2867 Causal - 4 854 19_16082_16082-001_16082- Causal - 19
790C>T	c.790C>T	4		p.Gln264X	EXO1 stabilization	Causal	French MMR network	25/03/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3175 19_3046430464-00130464-001 Causal - 19 3176 37_L13.171-E25252151164 Causal - 37 3177 4_JCS1312309434600 Causal - 4
842C>G	c.842C>G	5		p.Ser281X	EXO1 stabilization	Causal	French MMR network	21/02/14	11
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 467 8_F175_B041277_04-0831 Causal - 8 468 8_F175_B061120_06-0863 Causal - 8 469 8_F175_B031772_G1 - SF19 Causal - 8 470 8_F175_B031771_G1 - SF20 Causal - 8 471 8_F175_B031871_G1 - SF21 Causal - 8 472 8_F175_B032759_G2 - 148 Causal - 8 871 19_15153_15153-001_15153- Causal - 19 1332 37_L08.023-E_6407_60842 Causal - 37 1333 37_L08.023-E_6408_60844 Causal - 37 1334 37_L08.023-E_7611_70935 Causal - 37 1335 37_L08.023-E_7612_70936 Causal - 37
862C>T	c.862C>T	5		p.Gln288X	EXO1 stabilization	Causal	French MMR network	24/06/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3184 17_140106218871001--- Causal - 17
940C>T	c.940C>T	5		p.Gln314X	EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 388 6_606216_200604864_S6620 Causal - 6 3049 31_H1593H1593-1H1593-1A Causal - 31
970C>T	c.970C>T	6		p.Gln324X	EXO1 stabilization	Causal	French MMR network	21/02/14	11
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 892 19_11134_11134-001_11134- Causal - 19 1809 7_-2515---E050131 Causal - 7 1810 7_-25153317E050131 Causal - 7 2416 SO_-2515---G01996 Causal - 71 2417 SO_-2515---G01997 Causal - 71 2418 SO_-2515---G02001 Causal - 71 2466 SO_-2515---G03246 Causal - 71 2476 SO_-2515---G03410 Causal - 71 2630 SO_-4670---G07010 Causal - 71 3052 5_2013240AAH587 Causal - 5 3198 4_JCS1224293554272 Causal - 4
1009C>T	c.1009C>T	6		p.Gln337X	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2484 SO_-3269---G03543 Causal - 71
1012G>T	c.1012G>T	6		p.Gly338X	EXO1 stabilization	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 605 19_5388_5388-001_5388-001 Causal - 19 606 19_5388_5388-002_5388-002 Causal - 19 607 19_5388_5388-004_5388-004 Causal - 19
1030C>T	c.1030C>T	6		p.Gln344X	EXO1 stabilization	Causal	French MMR network	21/02/14	16
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 150 4_C05129_18685_1449 Causal - 4 151 4_H06129_19833_1855 Causal - 4 948 31_H45_H45_1_H45_1_A Causal - 31 949 31_H45_H45_11_H45_11_A Causal - 31 950 31_H45_H45_2_H45_2_A Causal - 31 951 31_H45_H45_4_H45_4_A Causal - 31 952 31_H45_H45_5_H45_5_A Causal - 31 953 31_H45_H45_6_H45_6_A Causal - 31 954 31_H45_H45-17_H45-17A Causal - 31 955 31_H45_H45-18_H45-18A Causal - 31 2666 SO_-4150---G07549 Causal - 71 2682 SO_-4150---G07793 Causal - 71 2683 SO_-4150---G07794 Causal - 71 2737 SO_-4150---G08329 Causal - 71 2752 SO_-5518---G08539 Causal - 71 2837 SO_-4150---GB6117 Causal - 71
1034G>A	c.1034G>A	6		p.Trp345X	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2397 SO_-1102---G01568 Causal - 71
1069G>T	c.1069G>T	6		p.Glu357X	EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2425 SO_-2597---G02192 Causal - 71 2440 SO_-2597---G02670 Causal - 71
1075A>T	c.1075A>T	6-7		p.Arg359X	EXO1 stabilization	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 610 19_5500_5500-001_5500-001 Causal - 19 611 19_5500_5500-002_5500-002 Causal - 19 612 19_5500_5500-003_5500-003 Causal - 19 2044 7_51944550E051333 Causal - 7
1079T>A	c.1079T>A	7		p.Leu360X	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 958 31_H339_H339-1_H339-1A Causal - 31
1147C>T	c.1147C>T	7		p.Arg383X	EXO1 stabilization	Causal	French MMR network	21/02/14	16
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 259 5_2010264_P0042590_AAE217 Causal - 5 899 20_20-1509_1509-01_4835 Causal - 20 960 31_H1501_H1501-1_H1501-1A Causal - 31 1184 37_L97.01_256_187 Causal - 37 1185 37_L97.01_710_1322 Causal - 37 1186 37_L08.083_6673_72114 Causal - 37 1187 37_L08.083_9598_81966 Causal - 37 1188 37_L08.083_9599_81967 Causal - 37 1189 37_L08.083_9602_81968 Causal - 37 1190 37_L08.083_10291_86892 Causal - 37 1574 7_34791660E03393 Causal - 7 2361 SO_-2150---G00931 Causal - 71 2628 SO_-4662---G06988 Causal - 71 2642 SO_-4773---G07176 Causal - 71 2848 5_2011298P0047493AAH410 Causal - 5 3085 4_SE1302304474420 Causal - 4
1165C>T	c.1165C>T	7		p.Arg389X	EXO1 stabilization	Causal	French MMR network	21/02/14	22
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 13 2_02-ACT1096_11520_11520 Causal - 2 14 2_02-DDM4505_23242_23242 Causal - 2 635 19_10498_10498-001_10498- Causal - 19 1065 33_TNN 150__02-863 Causal - 33 1191 37_L98.03_257_194 Causal - 37 1192 37_L98.03_1021_4887 Causal - 37 1193 37_L08.046_6829_64758 Causal - 37 1194 37_L08.046_8723_77415 Causal - 37 1195 37_L08.046_8725_77475 Causal - 37 1196 37_L08.046_9237_--- Causal - 37 1197 37_L08.046_9236_--- Causal - 37 1356 38_589_---_1561 Causal - 38 2324 SO_-1065---G00275 Causal - 71 2345 SO_-1065---G00793 Causal - 71 2347 SO_-1065---G00797 Causal - 71 2423 SO_-2564---G02124 Causal - 71 2464 SO_-2564---G03228 Causal - 71 2536 SO_-3952---G05452 Causal - 71 2829 SO_-3699---G09022 Causal - 71 2830 SO_-36993088G09022 Causal - 71 2849 2_02-ACT109634795213078412 Causal - 2 2933 19_L98.0315118109330 Causal - 19
1183C>T	c.1183C>T	7		p.Gln395X	MSH3/MSH6 interaction	Causal	French MMR network	23/04/15	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3086 19_2663926639-00126639-001 Causal - 19 3204 2_02-OCN1338542933215079443 Causal - 2
1186A>T	c.1186A>T	7		p.Arg396X	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 636 19_13174_13174-001_13174- Causal - 19
1189C>T	c.1189C>T	7		p.Gln397X	EXO1 stabilization	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 262 5_2003066_20031389_--- Causal - 5 263 5_2003066_20044191_AAA518 Causal - 5 1369 41_HNPCC062_HNPCC062001_- Causal - 41 2704 SO_-5227---G07945 Causal - 71
1204C>T	c.1204C>T	7		p.Gln402X	EXO1 stabilization	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1198 37_L05.10_5124_50923 Causal - 37 1199 37_L05.13-E_6676_63605 Causal - 37 1200 37_L08.086-E_7617_71125 Causal - 37 1201 37_L05.10_3073_32970/3297 Causal - 37
1216C>T	c.1216C>T	7		p.Arg406X	EXO1 stabilization	Causal	French MMR network	21/02/14	18
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 16 2_02-DDM4283_22508_22508 Causal - 2 637 19_10440_10440-001_10440- Causal - 19 638 19_699_699-001_699-001-1 Causal - 19 639 19_699_699-002_699-002-1 Causal - 19 961 31_H92_H92_1_H92_1_A Causal - 31 962 31_H92_H92_3_H92_3_A Causal - 31 963 31_H92_H92_4_H92_4_A Causal - 31 1985 7_-6039---E050971 Causal - 7 1986 7_-60394339E050971 Causal - 7 2392 SO_-926---G01550 Causal - 71 2482 SO_-3255---G03527 Causal - 71 2483 SO_-3255---G03528 Causal - 71 2504 SO_-926---G04596 Causal - 71 2561 SO_-4064---G05971 Causal - 71 2741 SO_-40643146G08406 Causal - 71 2745 SO_-4064---G08491 Causal - 71 2746 SO_-4064---G08492 Causal - 71 2992 5_202013457AAH978 Causal - 5
1225C>T	c.1225C>T	7		p.Gln409X	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2385 SO_-868---G01523 Causal - 71
1255C>T	c.1255C>T	7		p.Gln419X	EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1441 7_-1011C010121 Causal - 7 2993 2_02-OCN716231198212065435 Causal - 2
1351C>T	c.1351C>T	8		p.Gln451X	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2454 SO_-1237---G03130 Causal - 71
1354G>T	c.1354G>T	8		p.Glu452X	EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1066 33_TNN 227__03-807 Causal - 33 2560 SO_-4068---G05955 Causal - 71
1418C>G	c.1418C>G	9		p.Ser473X	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 359 6_611261_B00069807_S 2809 Causal - 6
1447G>T	c.1447G>T	9		p.Glu483X	EXO1 stabilization	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 692 19_7894_7894-001_7894-001 Causal - 19 693 19_7894_7894-002_7894-002 Causal - 19 2381 SO_-643---G01488 Causal - 71 2448 SO_-643---G02894 Causal - 71
1463T>A	c.1463T>A	9		p.Leu488X	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2250 7_1273013332E110037 Causal - 7
1468A>T	c.1468A>T	9		p.Lys490X	EXO1 stabilization	Causal	French MMR network	21/02/14	13
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 31 2_02-ACT2630_18399_18399 Causal - 2 360 6_608137_20082835_S5149 Causal - 6 694 19_12005_12005-001_12005- Causal - 19 695 19_12005_12005-002_12005- Causal - 19 2318 SO_-1694---G00159 Causal - 71 2405 SO_-2421---G01764 Causal - 71 2489 SO_-1694---G03672 Causal - 71 2542 SO_-1694---G05518 Causal - 71 2595 SO_-1694---G06428 Causal - 71 2596 SO_-1694---G06430 Causal - 71 2622 SO_-1694---G06850 Causal - 71 2659 SO_-1694---G07350 Causal - 71 2725 SO_-5401---G08254 Causal - 71
1481C>A	c.1481C>A	9		p.Ser494X	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 172 4_CRH06114_22238_--- Causal - 4
1528C>T	c.1528C>T	10		p.Gln510X	EXO1 stabilization	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 696 19_7803_7803-001_7803-001 Causal - 19 697 19_7803_7803-002_7803-002 Causal - 19 698 19_7803_7803-003_7803-003 Causal - 19 699 19_7803_7803-004_7803-004 Causal - 19
1633C>T	c.1633C>T	10		p.Gln545X	EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2432 SO_-2697---G02435 Causal - 71 2437 SO_-2697---G02587 Causal - 71
1689T>G	c.1689T>G	11		p.Tyr563X	EXO1 stabilization	Causal	French MMR network	21/02/14	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 425 8_44620_83689_08-397321EG Causal - 8 426 8_44620_83274_08-397321EG Causal - 8 427 8_F491_17041967_08-819101 Causal - 8 428 8_44620_77930_08-921411EG Causal - 8 2945 4_BCR1103260763594 Causal - 4 3006 8_460338645208-571131EGS Causal - 8 3205 2_02-DDM1054635079213105462 Causal - 2 3244 8_460339647108-413241 Causal - 8
1699A>T	c.1699A>T	11		p.Lys567X	EXO1 stabilization	Causal	French MMR network	21/02/14	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 284 5_1998009_19980613_--- Causal - 5 285 5_1998009_20032926_AAA899 Causal - 5 286 5_1998009_20032925_AAA990 Causal - 5 287 5_2009452_20094819_AAD659 Causal - 5 1535 7_15451460E03149 Causal - 7 2315 7_1545488E980027 Causal - 7 2517 SO_-3668---G05082 Causal - 71 2946 19_L11.06116059113232 Causal - 19 3101 31_H1869H1869-1H1869-1A Causal - 31
1710T>G	c.1710T>G	11		p.Tyr570X	EXO1 stabilization	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 429 8_F195_B042539_04-1619 Causal - 8 430 8_F195_B050523_05-0418 Causal - 8 2678 SO_-5069---G07759 Causal - 71 2832 SO_-50693102G09032 Causal - 71
1777C>T	c.1777C>T	12		p.Gln593X	EXO1 stabilization	Causal	French MMR network	21/02/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1382 41_HNPCC080_HNPCC080002_- Causal - 41 2316 SO_-5060---G00020 Causal - 71 2317 SO_-50603673G00020 Causal - 71 2675 SO_-5060---G07712 Causal - 71 2795 SO_-5060---G08852 Causal - 71
1835C>G	c.1835C>G	12		p.Ser612X	Lever	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1222 37_L10.067_11968_101745 Causal - 37 2947 19_L10.06711968109757 Causal - 19
1861C>T	c.1861C>T	12		p.Arg621X	ATPase	Causal	French MMR network	21/02/14	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 485 14_N05138_05C900_05C900 Causal - 14 1223 37_F07.158_6574_62642 Causal - 37 1224 37_L07.76_20605_132983 Causal - 37 1225 37_L07.76_20605_133627 Causal - 37 1226 37_L12.079_17160_130529/1 Causal - 37 1227 37_L06.02_3679_38916/3896 Causal - 37 2401 SO_-2395---G01695 Causal - 71 3107 37_L07.7625755152925 Causal - 37 3108 37_L07.7626182154760 Causal - 37 3109 37_L12.07928918163672 Causal - 37
1888G>T	c.1888G>T	12		p.Gly630X	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 741 19_12673_12673-001_12673- Causal - 19
1901T>G	c.1901T>G	12		p.Leu634X	ATPase	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 291 5_2004081_---_--- Causal - 5 3231 19_2798227982-00127982-001 Causal - 19
1968C>G	c.1968C>G	12		p.Tyr656X	ATPase	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 747 19_7124_7124-001_7124-001 Causal - 19 748 19_7124_7124-002_7124-002 Causal - 19 1237 37_L11.112_16549_127685 Causal - 37 2948 19_L11.11216549121291 Causal - 19
1984C>T	c.1984C>T	12		p.Gln662X	ATPase	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2320 SO_-1711---G00179 Causal - 71 2443 SO_-1711---G02730 Causal - 71
2017G>T	c.2017G>T	13		p.Gly673X	ATP binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1244 37_L03.19_1693_15109 Causal - 37
2038C>T	c.2038C>T	13		p.Arg680X	ATP binding	Causal	French MMR network	21/02/14	15
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 295 5_2007315_p0033887_AAB945 Causal - 5 367 6_607125_B00065905_S4167 Causal - 6 368 6_606162_20064181_S9432 Causal - 6 369 6_606162_200604184_S9434 Causal - 6 435 8_F765_B031444_G1-Nç829 Causal - 8 755 19_5206_5206-001_5206-001 Causal - 19 756 19_5206_5206-002_5206-002 Causal - 19 757 19_5206_5206-004_5206-004 Causal - 19 758 19_5530_5530-001_5530-001 Causal - 19 933 25_15094_P15094_1_ABS25 Causal - 25 1002 31_H216_H216_1_H216_1_A Causal - 31 1003 31_H652_H652-1_H652-1A Causal - 31 1004 31_H880_H880-1_H880-1A Causal - 31 1245 37_L05.03-E_2969_32155/32 Causal - 37 1442 7_-1871C010204 Causal - 7
2041C>T	c.2041C>T	13		p.Gln681X	ATP binding	Causal	French MMR network	21/02/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2424 SO_-2611---G02187 Causal - 71 2469 SO_-2611---G03288 Causal - 71 2470 SO_-2611---G03289 Causal - 71 2471 SO_-2611---G03290 Causal - 71 2750 SO_-2611---G08531 Causal - 71
2092G>T	c.2092G>T	13		p.Glu698X	ATPase	Causal	French MMR network	21/02/14	12
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 762 19_1254_1254-001_1254-001 Causal - 19 763 19_1254_1254-002_1254-002 Causal - 19 1483 7_2287309E02072 Causal - 7 2415 SO_-2511---G01991 Causal - 71 2457 SO_-2511---G03189 Causal - 71 2487 SO_-2511---G03572 Causal - 71 2507 SO_-2511---G04947 Causal - 71 2558 SO_-2511---G05910 Causal - 71 2569 SO_-4124---G06056 Causal - 71 2602 SO_-2511---G06552 Causal - 71 2760 SO_-2511---G08707 Causal - 71 2834 SO_-25113100G09036 Causal - 71
2131C>T	c.2131C>T	13		p.Arg711X	ATPase	Causal	French MMR network	21/02/14	20
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 314 5_2005331_P0028855_AAA866 Causal - 5 371 6_601015_200600882_S6209 Causal - 6 372 6_606229_200605863_S7035 Causal - 6 767 19_7534_7534-001_7534-001 Causal - 19 1078 33_TNN 251__03-1129 Causal - 33 1887 7_-36903927E050548 Causal - 7 2322 SO_-473---G00211 Causal - 71 2352 SO_-1126---G00832 Causal - 71 2374 SO_-2343---G01316 Causal - 71 2383 SO_-653---G01497 Causal - 71 2391 SO_-473---G01542 Causal - 71 2402 SO_-1126---G01723 Causal - 71 2441 SO_-2343---G02698 Causal - 71 2450 SO_-2971---G02985 Causal - 71 2479 SO_-1126---G03445 Causal - 71 2559 SO_-1126---G05912 Causal - 71 2592 SO_-3690---G06404 Causal - 71 2607 SO_-1126---G06637 Causal - 71 2623 SO_-4608---G06915 Causal - 71 3123 19_2689426894-00126894-001 Causal - 19
2152C>T	c.2152C>T	13		p.Gln718X	ATPase	Causal	French MMR network	21/02/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 78 2_02-DDM6217_26383_26383 Causal - 2 315 5_2002201_20024934_--- Causal - 5 768 19_13338_13338-001_13338- Causal - 19 1398 41_HNPCC079_HNPCC079001_- Causal - 41 2526 SO_-3839---G05384 Causal - 71 2601 SO_-3839---G06533 Causal - 71 3125 19_2723427234-00127234-001 Causal - 19
2228C>A	c.2228C>A	14		p.Ser743X	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 203 4_C02030 _17116_703 Causal - 4
2228C>G	c.2228C>G	14		p.Ser743X	ATPase	Causal	French MMR network	21/02/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1272 37_F07.105_6301_60151 Causal - 37 1273 37_F07.105_7424_70003 Causal - 37 1274 37_F07.105_9747_83192 Causal - 37 1275 37_F07.105_11420_93539 Causal - 37 2865 37_L07.4925097150519 Causal - 37 2956 19_L07.4911340117041 Causal - 19
2231T>G	c.2231T>G	14		p.Leu744X	ATPase	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2422 SO_-2545---G02108 Causal - 71 2458 SO_-2545---G03190 Causal - 71 2490 SO_-2545---G03695 Causal - 71 2525 SO_-2545---G05294 Causal - 71
2251G>T	c.2251G>T	14		p.Gly751X	ATPase	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 207 4_1220_19689_1818 Causal - 4 208 4_H08108_21836_2461 Causal - 4 209 4_CF792_---_--- Causal - 4
2271C>G	c.2271C>G	14		p.Tyr757X	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2518 SO_1554---G05092 Causal - 71
2292G>A	c.2292G>A	14		p.Trp764X	ATPase	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 775 19_14997_14997-001_14997- Causal - 19 776 19_14997_14997-003_14997- Causal - 19
2446C>T	c.2446C>T	14		p.Gln816X	ATPase	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 319 5_2010127_20101281_AAE050 Causal - 5 2409 SO_-2473---G01858 Causal - 71
2536C>T	c.2536C>T	15		p.Gln846X	ATPase	Causal	French MMR network	21/02/14	5
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 89 2_02-SG63-IGR ACT2336_387 Causal - 2 90 2_02-ACT2508_1188_1188 Causal - 2 1754 7_-5814---E041036 Causal - 7 1757 7_-58142980E041036 Causal - 7 2537 SO_-3954---G05457 Causal - 71
2554G>T	c.2554G>T	15		p.Glu852X	ATPase	Causal	French MMR network	21/02/14	15
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 91 2_02-ACT2025_12641_12641 Causal - 2 1285 37_L09.053_9892_84539 Causal - 37 1286 37_L09.053_9892_98386 Causal - 37 1287 37_L09.053_12425_102368 Causal - 37 1288 37_L09.053_13674_102995 Causal - 37 1289 37_L09.053_16696_115844 Causal - 37 1290 37_L09.053_16696_127887 Causal - 37 1291 37_L09.053_19886_129975 Causal - 37 1292 37_L09.053_19886_131306 Causal - 37 1293 37_L12.056_19432_128409/1 Causal - 37 2867 37_L09.05322523140150 Causal - 37 2868 37_L09.05322521140156 Causal - 37 3142 37_L09.05322429--- Causal - 37 3143 37_L12.05625695152914 Causal - 37 3144 37_L14.08024709158108 Causal - 37
2581C>T	c.2581C>T	15		p.Gln861X	Helix-turn-helix	Causal	French MMR network	21/02/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 212 4_C94078/94H13_---_--- Causal - 4 376 6_607246_B64543_S5717 Causal - 6 1835 7_-5832---E050268 Causal - 7 2025 7_-58323021E051192 Causal - 7 2372 SO_-2231---G01111 Causal - 71 2911 19_2861928619.00128619.001 Causal - 19
2740G>T	c.2740G>T	16		p.Glu914X	MSH3/MSH6 interaction	Causal	French MMR network	25/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3250 8_473919301708-536041 Causal - 8
2752A>T	c.2752A>T	16		p.Lys918X	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 215 4_H-JCS0206_17085_765 Causal - 4
2785C>T	c.2785C>T	16		p.Arg929X	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1403 41_HNPCC013_HNPCC013001_- Causal - 41 1404 41_HNPCC013_HNPCC013002_- Causal - 41 2380 SO_-621---G01476 Causal - 71 2386 SO_-621---G01533 Causal - 71 2387 SO_-621---G01534 Causal - 71 2388 SO_-621---G01535 Causal - 71 2389 SO_-621---G01536 Causal - 71 2390 SO_-621---G01537 Causal - 71 2495 SO_-3503---G03952 Causal - 71