The UMD-MSH2 mutations database
Large lesions (391 records)

    Request ID: 531540167729

Old nomenclature	cDNA Nomenclature	exon	mRNA nomenclature	Protein nomenclature	Functional Domain	Biological significance	Validation by	Validation date	# records
1_1076del	c.1_1076del	1		p.Met1?	Mismatch binding	Causal	French MMR network	21/02/14	22
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 137 4_Di0902_22790_2682 Causal - 4 502 19_12059_12059-001_12059- Causal - 19 503 19_12812_12812-001_12812- Causal - 19 504 19_15868_15868-001_15868- Causal - 19 505 19_4330_4330-001_4330-001 Causal - 19 506 19_4330_4330-003_4330-003 Causal - 19 507 19_4696_4696-002_4696-002 Causal - 19 508 19_4696_4696-003_4696-003 Causal - 19 509 19_5940_5940-001_5940-001 Causal - 19 510 19_5940_5940-002_5940-002 Causal - 19 3064 37_L13.157-E24921149957 Causal - 37 1093 37_L99.02_265_199 Causal - 37 1094 37_L99.02_1038_5378 Causal - 37 1095 37_L03.20_1733_15809 Causal - 37 1096 37_L05.07_3199_34350 Causal - 37 3066 37_L13.17228082161015 Causal - 37 3065 37_L13.17225274151696 Causal - 37 2439 SO_-2778---G02622 Causal - 71 2840 5_20122542012002898AAG533 Causal - 5 3067 37_L13.17228080161013 Causal - 37 3068 37_L13.17228079161012 Causal - 37 3069 37_L14.15427635162051 Causal - 37
1_1276del	c.1_1276del	1		p.Met1?	Mismatch binding	Causal	French MMR network	21/02/14	29
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 138 4_H-H05043_19298_1462 Causal - 4 511 19_10708_10708-001_10708- Causal - 19 512 19_10966_10966-001_10966- Causal - 19 513 19_10966_10966-002_10966- Causal - 19 514 19_12804_12804-001_12804- Causal - 19 515 19_13655_13655-001_13655- Causal - 19 516 19_13655_13655-002_13655- Causal - 19 517 19_13655_13655-003_13655- Causal - 19 518 19_6816_6816-001_6816-001 Causal - 19 519 19_6816_6816-003_6816-003 Causal - 19 520 19_6816_6816-004_6816-004 Causal - 19 521 19_7169_7169-001_7169-001 Causal - 19 522 19_7169_7169-002_7169-002 Causal - 19 523 19_7169_7169-003_7169-003 Causal - 19 524 19_7965_7965-001_7965-001 Causal - 19 525 19_7965_7965-002_7965-002 Causal - 19 526 19_9500_9500-001_9500-001 Causal - 19 527 19_9807_9807-001_9807-001 Causal - 19 528 19_9807_9807-002_9807-002 Causal - 19 2986 19_2465424654-00124654-001 Causal - 19 1097 37_L03.27_1813_16993 Causal - 37 2567 SO_-4100---G06037 Causal - 71 2603 SO_-4449---G06595 Causal - 71 2744 SO_-5486---G08478 Causal - 71 2919 19_L11.02213047111293 Causal - 19 2920 19_L11.02216706115847/120218 Causal - 19 2921 19_L11.10016702120920 Causal - 19 3210 20_20-56025602-01--- Causal - 20 3230 19_2754127541-00127541-001 Causal - 19
1_1386del	c.1_1386del	1		p.Met1?	Mismatch binding	Causal	French MMR network	21/02/14	14
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1 2_02-DDM3939_21745_21745 Causal - 2 139 4_B9706__736 Causal - 4 390 8_25361_3121963_08-186060 Causal - 8 391 8_45636_84524_08-343421EG Causal - 8 529 19_15363_15363-001_15363- Causal - 19 530 19_1890_1890-001_1890-001 Causal - 19 531 19_1890_1890-002_1890-002 Causal - 19 532 19_1890_1890-003_1890-003 Causal - 19 533 19_1890_1890-004_1890-004 Causal - 19 534 19_3351_3351-001_3351-001 Causal - 19 535 19_3351_3351-003_3351-003 Causal - 19 2839 37_L13.14014695148219/148220 Causal - 37 3070 4_JCS1309312124553 Causal - 4 3212 20_20-00300030-37--- Causal - 20
1_1759del	c.1_1759del	1		p.Met1?	Mismatch binding	Causal	French MMR network	5/06/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2922 4_10226250303218 Causal - 4
1_211del	c.1_211del	1		p.Met1?	Mismatch binding	Causal	French MMR network	21/02/14	22
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2 2_02-ACT2284_15564_15564 Causal - 2 245 5_2008289_20072812_AAC606 Causal - 5 536 19_12488_12488-001_12488- Causal - 19 537 19_13872_13872-001_13872- Causal - 19 538 19_13872_13872-002_13872- Causal - 19 539 19_13872_13872-003_13872- Causal - 19 540 19_1618_1618-001_1618-001 Causal - 19 541 19_1618_1618-002_1618-002 Causal - 19 542 19_3490_3490-001_3490-001 Causal - 19 543 19_7081_7081-001_7081-001 Causal - 19 544 19_7081_7081-002_7081-002 Causal - 19 545 19_7081_7081-005_7081-005 Causal - 19 546 19_7081_7081-006_7081-006 Causal - 19 547 19_7081_7081-008_7081-008 Causal - 19 548 19_7081_7081-009_7081-009 Causal - 19 549 19_7081_7081-010_7081-010 Causal - 19 550 19_7081_7081-014_7081-014 Causal - 19 2885 19_2450124501.00124501.001 Causal - 19 2886 19_2499924999.00124999.001 Causal - 19 2335 SO_-1328---G00343 Causal - 71 3071 4_CH43858321754717 Causal - 4 3211 20_20-44554455-01--- Causal - 20
1_2634del	c.1_2634del	1		p.Met1?	Mismatch binding	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1098 37_L06.03-E_4325_44807/44 Causal - 37 1783 7_-2348---E041267 Causal - 7 2375 SO_-2348---G01371 Causal - 71 2455 SO_-2348---G03155 Causal - 71
1_2805del	c.1_2805del	1		p.Met1?	Mismatch binding	Causal	French MMR network	21/02/14	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 140 4_H-01H12_18942_1105 Causal - 4 141 4_B0409_18028_1583 Causal - 4 551 19_12103_12103-001_12103- Causal - 19 552 19_12103_12103-002_12103- Causal - 19 553 19_8835_8835-001_8835-001 Causal - 19 554 19_8835_8835-002_8835-002 Causal - 19 555 19_8835_8835-003_8835-003 Causal - 19 1100 37_L05.02_2367_29894 Causal - 37
1_366del	c.1_366del	1		p.Met1?	Mismatch binding	Causal	French MMR network	21/02/14	53
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3 2_02-DDM4591_23452_23452 Causal - 2 142 4_C00100__712 Causal - 4 143 4_JCS0924_22425_2899 Causal - 4 2987 9_F27358421908-396031EGS Causal - 9 557 19_10675_10675-001_10675- Causal - 19 558 19_10675_10675-002_10675- Causal - 19 559 19_10887_10887-001_10887- Causal - 19 560 19_12764_12764-001_12764- Causal - 19 561 19_14673_14673-001_14673- Causal - 19 562 19_5165_5165-001_5165-001 Causal - 19 563 19_5165_5165-003_5165-003 Causal - 19 564 19_5165_5165-005_5165-005 Causal - 19 565 19_5378_5378-001_5378-001 Causal - 19 566 19_5378_5378-003_5378-003 Causal - 19 567 19_5378_5378-004_5378-004 Causal - 19 568 19_5378_5378-005_5378-005 Causal - 19 569 19_5378_5378-006_5378-006 Causal - 19 570 19_5378_5378-008_5378-008 Causal - 19 571 19_5378_5378-009_5378-009 Causal - 19 572 19_5378_5378-012_5378-012 Causal - 19 573 19_5378_5378-013_5378-013 Causal - 19 574 19_5378_5378-015_5378-015 Causal - 19 575 19_5666_5666-001_5666-001 Causal - 19 576 19_5666_5666-002_5666-002 Causal - 19 577 19_5666_5666-004_5666-004 Causal - 19 578 19_5666_5666-005_5666-005 Causal - 19 579 19_5666_5666-007_5666-007 Causal - 19 580 19_5666_5666-008_5666-008 Causal - 19 581 19_5666_5666-011_5666-011 Causal - 19 582 19_5666_5666-012_5666-012 Causal - 19 583 19_5666_5666-014_5666-014 Causal - 19 584 19_5666_5666-017_5666-017 Causal - 19 585 19_5666_5666-019_5666-019 Causal - 19 586 19_6148_6148-001_6148-001 Causal - 19 587 19_6815_6815-001_6815-001 Causal - 19 1101 37_L02.09_924_3372 Causal - 37 1102 37_L02.09_1302_9089 Causal - 37 1103 37_L02.09_1322_9460 Causal - 37 1104 37_L02.09_1323_9461 Causal - 37 1105 37_L02.09_1324_9462 Causal - 37 1106 37_L02.09_1325_9463 Causal - 37 1107 37_L02.09_1385_10614 Causal - 37 1108 37_L02.09_1644_14539 Causal - 37 1109 37_L02.09_1667_14863 Causal - 37 1110 37_L02.09_1668_14864 Causal - 37 1111 37_L02.09_11059_91416 Causal - 37 1861 7_-5914---E050381 Causal - 7 2453 SO_-3056---G03112 Causal - 71 2573 SO_-4162---G06147 Causal - 71 3072 19_61486148-0046148-004 Causal - 19 3073 37_L13.14129788166699 Causal - 37 3074 37_L13.14130233168172 Causal - 37 3229 19_2753527535-00127535-001 Causal - 19
1_645del	c.1_645del	1		p.Met1?	Mismatch binding	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 588 19_10835_10835-001_10835- Causal - 19 3075 19_2603826038-00126038-001 Causal - 19
1_792del	c.1_792del	1		p.Met1?	Mismatch binding	Causal	French MMR network	21/02/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 144 4_C97060_---_116 Causal - 4 145 4_H-JCS0411_17947_1136 Causal - 4 592 19_4347_4347-001_4347-001 Causal - 19 593 19_4347_4347-002_4347-002 Causal - 19 594 19_4347_4347-003_4347-003 Causal - 19 595 19_9069_9069-001_9069-001 Causal - 19
1_942del	c.1_942del	1		p.Met1?	Mismatch binding	Causal	French MMR network	21/02/14	12
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 146 4_C04286_18251_1379 Causal - 4 596 19_10681_10681-001_10681- Causal - 19 597 19_10681_10681-003_10681- Causal - 19 598 19_10681_10681-005_10681- Causal - 19 599 19_15309_15309-001_15309- Causal - 19 600 19_9498_9498-001_9498-001 Causal - 19 601 19_9498_9498-005_9498-005 Causal - 19 602 19_9498_9498-006_9498-006 Causal - 19 603 19_9498_9498-007_9498-007 Causal - 19 604 19_9498_9498-008_9498-008 Causal - 19 2538 SO_-3923---G05459 Causal - 71 2541 SO_-3923---G05503 Causal - 71
212_1276del	c.212_1276del	1-2		p.Ala72_Gly426del	Mismatch binding	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 764 19_22_22-001_22-001-1 Causal - 19 765 19_22_22-002_22-002-1 Causal - 19
212_366del	c.212_366del	1-2		p.Ala72PhefsX9	Mismatch binding	Causal	French MMR network	5/06/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2955 8_431121473408-521111EGS Causal - 8
212_645del	c.212_645del	1-2		p.Gly71AspfsX16	Mismatch binding	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 76 2_02-ACT1579_13243_13243 Causal - 2 77 2_02-ACT1847_14544_14544 Causal - 2 1254 37_F07.055_5579_54396 Causal - 37 1255 37_F07.055_5580_54435 Causal - 37
212_942del	c.212_942del	1-2		p.Ala72PhefsX3	Mismatch binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1256 37_L08.097_8307_75172 Causal - 37
281_282insTTT	c.281_282insTTT	2		p.Leu94dup	Mismatch binding	UV	French MMR network	5/06/07	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2555 SO_-4001---G05800 UV - 71
332_333insCC	c.332_333insCC	2		p.Ser112HisfsX63	Mismatch binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2394 SO_-881---G01555 Causal - 71
212_366dup	c.212_366dup	3		p.Ala123GlufsX13	Mismatch binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 766 19_14712_14712-001_14712- Causal - 19
367_1076del	c.367_1076del	3		p.Ala123IlefsX29	Mismatch binding	Causal	French MMR network	21/02/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 447 8_F1481_85997_08-958031EG Causal - 8 448 8_F1481_85787_08-986031EG Causal - 8 2962 8_F1481481108-940021BA Causal - 8 2963 5_200942320094739AAE890 Causal - 5 3163 37_L13.18523069152892 Causal - 37 3164 37_L13.18529996167540 Causal - 37
367_1386del	c.367_1386del	3		p.Ala123_Gln462del	Mismatch binding	Causal	French MMR network	22/05/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2909 19_2443124431.00124431.001 Causal - 19
367_1661del	c.367_1661del	3		p.Ala123GlnfsX7	Mismatch binding	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 102 2_02-DDM3385_20227_20227 Causal - 2
367_1759del	c.367_1759del	3		p.Ser124MetfsX2	Mismatch binding	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 800 19_7084_7084-001_7084-001 Causal - 19 2749 SO_-5497---G08513 Causal - 71
367_645del	c.367_645del	3		p.Ala123_Gln215del	Mismatch binding	Causal	French MMR network	21/02/14	18
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 103 2_02-ACT1890_14702_14702 Causal - 2 801 19_10884_10884-001_10884- Causal - 19 802 19_3231_3231-001_3231-001 Causal - 19 803 19_3231_3231-003_3231-003 Causal - 19 804 19_3231_3231-004_3231-004 Causal - 19 805 19_3231_3231-006_3231-006 Causal - 19 806 19_6665_6665-001_6665-001 Causal - 19 807 19_6665_6665-003_6665-003 Causal - 19 808 19_6665_6665-005_6665-005 Causal - 19 945 25_13130_P13130_1_KPE6 Causal - 25 1298 37_L08.063-E_7633_71174 Causal - 37 1299 37_L08.063-E_7783_72086 Causal - 37 1300 37_L08.063-E_7824_72306 Causal - 37 2340 SO_-1893---G00674 Causal - 71 2652 SO_-1893---G07279 Causal - 71 2714 SO_-1893---G08181 Causal - 71 2728 SO_-1893---G08298 Causal - 71 3041 8_467118982408-127231EGS Causal - 8
401_402insCA	c.401_402insCA	3		p.Leu135IlefsX40	Connector	Causal	French MMR network	5/06/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2966 4_10322255613382 Causal - 4
1_645dup	c.1_645dup	4		p.Met1_Gln215dup	Connector	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 589 19_9040_9040-001_9040-001 Causal - 19 590 19_9040_9040-002_9040-002 Causal - 19 591 19_9040_9040-003_9040-003 Causal - 19
646_1076del	c.646_1076del	4		p.Ile217GlufsX28	Connector	Causal	French MMR network	11/09/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3219 20_20-51885188-01--- Causal - 20
646_1386del	c.646_1386del	4		p.Ile216_Gln462del	Connector	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 225 4_B0234_---_1343 Causal - 4 843 19_10688_10688-001_10688- Causal - 19 844 19_10688_10688-003_10688- Causal - 19 845 19_10688_10688-004_10688- Causal - 19
646_2458del	c.646_2458del	4		p.Ile216ValfsX21	Connector	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 846 19_12783_12783-001_12783- Causal - 19 847 19_12783_12783-002_12783- Causal - 19
646_792del	c.646_792del	4		p.Ile216_Gln264del	Connector	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 226 4_C94080_---_425 Causal - 4 848 19_6509_6509-001_6509-001 Causal - 19 849 19_6509_6509-002_6509-002 Causal - 19
793_1076del	c.793_1076del	5		p.Val265IlefsX29	EXO1 stabilization	Causal	French MMR network	21/02/14	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 855 19_15755_15755-001_15755- Causal - 19 856 19_15755_15755-003_15755- Causal - 19 857 19_15755_15755-004_15755- Causal - 19 858 19_5405_5405-002_5405-002 Causal - 19 859 19_9954_9954-002_9954-002 Causal - 19 860 19_9954_9954-003_9954-003 Causal - 19 2435 SO_-2722---G02479 Causal - 71 2531 SO_-2722---G05416 Causal - 71 2971 4_9232233933308 Causal - 4
793_1076dup	c.793_1076dup	5		p.Val265delinsValStop	EXO1 stabilization	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 861 19_8418_8418-001_8418-001 Causal - 19 862 19_8418_8418-002_8418-002 Causal - 19 863 19_8418_8418-003_8418-003 Causal - 19
793_2805del	c.793_2805del	5		p.Ala266LysfsX11	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 1322 37_L08.022-E_6099_65379 Causal - 37
793_942del	c.793_942del	5		p.Val265_Gln314del	EXO1 stabilization	Causal	French MMR network	21/02/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 864 19_14469_14469-001_14469- Causal - 19 865 19_8474_8474-001_8474-001 Causal - 19 2420 SO_-2526---G02041 Causal - 71 2459 SO_-2526---G03192 Causal - 71 2500 SO_-2526---G04406 Causal - 71 3221 20_20-30093009-08--- Causal - 20
806_80713s13	c.806_807ins13	5		p.Leu270ValfsX18	EXO1 stabilization	Causal	French MMR network	5/08/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3179 17_121541212576001--- Causal - 17
943_1076del	c.943_1076del	6		p.Gly315IlefsX29	EXO1 stabilization	Causal	French MMR network	21/02/14	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 890 19_9503_9503-001_9503-001 Causal - 19 1349 37_L06.42_4457_46178 Causal - 37 1350 37_L06.42_6374_60673 Causal - 37 1351 37_L11.083_17342_126383 Causal - 37 1352 37_L11.083_20239_131455 Causal - 37 1353 37_L11.083_20239_131465 Causal - 37 2620 SO_-4079---G06841 Causal - 71 2881 37_L11.08323573144643 Causal - 37 2977 19_L11.08317342118900 Causal - 19 3195 37_L14.209-E29715166399 Causal - 37
999_1000insTAAG	c.999_1000insTAAG	6		p.Lys334X	Lever	Causal	French MMR network	5/08/15	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 2662 SO_-4894---G07411 Causal - 71
1077_1276del	c.1077_1276del	6-7		p.Leu360LysfsX16	EXO1 stabilization	Causal	French MMR network	21/02/14	21
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 5 2_02-DDM3526_20706_20706 Causal - 2 155 4_C95046_---_340 Causal - 4 247 5_2008058_P0034715_AAC247 Causal - 5 399 8_44265_78430_08-123121EG Causal - 8 400 8_F1611_8076_08-652160 Causal - 8 613 19_11489_11489-001_11489- Causal - 19 614 19_16126_16126-001_16126- Causal - 19 615 19_4269_4269-001_4269-001 Causal - 19 616 19_4269_4269-002_4269-002 Causal - 19 617 19_4269_4269-003_4269-003 Causal - 19 618 19_4269_4269-004_4269-004 Causal - 19 619 19_4269_4269-009_4269-009 Causal - 19 620 19_4269_4269-012_4269-012 Causal - 19 621 19_4269_4269-018_4269-018 Causal - 19 622 19_4269_4269-020_4269-020 Causal - 19 623 19_4269_4269-023_4269-023 Causal - 19 624 19_9665_9665-001_9665-001 Causal - 19 1171 37_L06.46_5843_55765 Causal - 37 1172 37_L09.014-E_8992_78820 Causal - 37 1173 37_L09.014-E_8993_80409 Causal - 37 1174 37_L06.46_3912_46494/4649 Causal - 37
1077_1386del	c.1077_1386del	6-7		p.Leu360TrpfsX8	EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 157 4_11149_27666_3817 Causal - 4 631 19_13096_13096-001_13096- Causal - 19
1077_2805del	c.1077_2805del	6-7			EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 248 5_2007248_P0033498_AAB854 Causal - 5
1077_1276dup	c.1077_1276dup	7-8		p.Gly426AspfsX2	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 156 4_CH1208_28599_4105 Causal - 4 355 6_608231_201001319_S8776 Causal - 6 625 19_7083_7083-001_7083-001 Causal - 19 626 19_7083_7083-002_7083-002 Causal - 19 627 19_7083_7083-003_7083-003 Causal - 19 628 19_7083_7083-004_7083-004 Causal - 19 629 19_7083_7083-006_7083-006 Causal - 19 630 19_7083_7083-007_7083-007 Causal - 19 1175 37_L12.044-E_19162_127462 Causal - 37 1176 37_L12.045-E_19163_127463 Causal - 37
1277_1386del	c.1277_1386del	7-8		p.Lys427GlyfsX4	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	25
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3255 8_474689342908-018041 Causal - 8 20 2_02-ACT2215_12430_12430 Causal - 2 21 2_02-DDM2746_18678_18678 Causal - 2 410 8_F990_B040582_04-0277 Causal - 8 411 8_F990_B050352_05-0259 Causal - 8 412 8_44171_77912_08-401411EG Causal - 8 646 19_10540_10540-001_10540- Causal - 19 647 19_11991_11991-001_11991- Causal - 19 648 19_5244_5244-001_5244-001 Causal - 19 649 19_5244_5244-004_5244-004 Causal - 19 650 19_5244_5244-005_5244-005 Causal - 19 651 19_5244_5244-007_5244-007 Causal - 19 652 19_5244_5244-008_5244-008 Causal - 19 653 19_6257_6257-001_6257-001 Causal - 19 654 19_6257_6257-002_6257-002 Causal - 19 655 19_6257_6257-004_6257-004 Causal - 19 656 19_8688_8688-001_8688-001 Causal - 19 657 19_9551_9551-001_9551-001 Causal - 19 658 19_7176_7176-001_7176-001 Causal - 19 659 19_14331_14331-001_14331- Causal - 19 1207 37_L09.007_8684_77152 Causal - 37 2451 SO_-3039---G03072 Causal - 71 2626 SO_-4632---G06966 Causal - 71 2827 SO_-5744---G09019 Causal - 71 3090 37_L14.047-E26719156573 Causal - 37
1277_2805del	c.1277_2805del	7-8			EXO1 stabilization	Causal	French MMR network	21/02/14	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 660 19_8387_8387-001_8387-001 Causal - 19 661 19_8387_8387-003_8387-003 Causal - 19 662 19_8387_8387-005_8387-005 Causal - 19
1077_1386dup	c.1077_1386dup	9		p.Val463IlefsX29	Clamp	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 632 19_7199_7199-001_7199-001 Causal - 19
1387_1510del	c.1387_1510del	9		p.Val463AlafsX22	EXO1 stabilization	Causal	French MMR network	21/02/14	2
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 267 5_2008320_20083512_AAC692 Causal - 5 268 5_2008400_20084340_AAC845 Causal - 5
1387_1661del	c.1387_1661del	9		p.Val463GlnfsX7	EXO1 stabilization	Causal	French MMR network	21/02/14	17
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 27 2_02-ACT1835_15167_15167 Causal - 2 28 2_02-ACT1835_16563_16563 Causal - 2 166 4_Di1104_27060_3675 Causal - 4 664 19_12963_12963-001_12963- Causal - 19 665 19_12963_12963-002_12963- Causal - 19 666 19_12963_12963-002_12963- Causal - 19 667 19_13092_13092-001_13092- Causal - 19 668 19_13092_13092-002_13092- Causal - 19 669 19_13527_13527-001_13527- Causal - 19 670 19_13527_13527-002_13527- Causal - 19 671 19_13527_13527-002_13527- Causal - 19 672 19_13530_13530-001_13530- Causal - 19 673 19_7540_7540-001_7540-001 Causal - 19 674 19_7540_7540-002_7540-002 Causal - 19 675 19_9505_9505-001_9505-001 Causal - 19 2431 SO_-2706---G02406 Causal - 71 2636 SO_-4691---G07081 Causal - 71
1387_1661dup	c.1387_1661dup	9		p.Val463delinsValStop	EXO1 stabilization	Causal	French MMR network	21/02/14	8
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 167 4_H95H006_---_125 Causal - 4 676 19_12156_12156-001_12156- Causal - 19 677 19_12156_12156-002_12156- Causal - 19 678 19_12156_12156-004_12156- Causal - 19 679 19_12172_12172-001_12172- Causal - 19 680 19_4264_4264-001_4264-001 Causal - 19 681 19_7722_7722-001_7722-001 Causal - 19 682 19_7722_7722-002_7722-002 Causal - 19
1387_2805del	c.1387_2805del	9		p.Glu464ArgfsX9	EXO1 stabilization	Causal	French MMR network	21/02/14	7
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 168 4_C99101_18096_914 Causal - 4 169 4_T04157_18211_1226 Causal - 4 170 4_9348_23748_2969 Causal - 4 683 19_8237_8237-001_8237-001 Causal - 19 684 19_8237_8237-003_8237-003 Causal - 19 685 19_9639_9639-001_9639-001 Causal - 19 686 19_9639_9639-002_9639-002 Causal - 19
1511_1661del	c.1511_1661del	9-10		p.Gly504AlafsX3	EXO1 stabilization	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 173 4_H07064_20389_2051 Causal - 4
1662_2458del	c.1662_2458del	10-11		p.Ser554ArgfsX4	EXO1 stabilization	Causal	French MMR network	21/02/14	10
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 177 4_C03140_17377_926 Causal - 4 424 8_41157_11041937_08-51629 Causal - 8 705 19_10899_10899-001_10899- Causal - 19 706 19_10899_10899-003_10899- Causal - 19 707 19_10899_10899-004_10899- Causal - 19 708 19_8074_8074-001_8074-001 Causal - 19 709 19_8083_8083-001_8083-001 Causal - 19 710 19_9502_9502-001_9502-001 Causal - 19 2586 SO_-4266---G06308 Causal - 71 3098 17_141124718726001--- Causal - 17
1662_2805del	c.1662_2805del	10-11		p.Ser554_Met592delinsArg	EXO1 stabilization	Causal	French MMR network	21/02/14	4
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 178 4_JCS1001_24139_2970 Causal - 4 711 19_4146_4146-001_4146-001 Causal - 19 712 19_4146_4146-003_4146-003 Causal - 19 3005 8_461238692608-083131EGS Causal - 8
1662_1759dup	c.1662_1759dup	11-12		p.Gly587AlafsX3	Lever	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 704 19_8651_8651-001_8651-001 Causal - 19
1760_2210del	c.1760_2210del	11-12		p.Tyr588LeufsX7	EXO1 stabilization	Causal	French MMR network	21/02/14	9
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 720 19_10086_10086-002_10086- Causal - 19 721 19_10086_10086-003_10086- Causal - 19 722 19_6259_6259-001_6259-001 Causal - 19 723 19_8813_8813-001_8813-001 Causal - 19 724 19_8813_8813-003_8813-003 Causal - 19 725 19_8813_8813-004_8813-004 Causal - 19 726 19_8813_8813-005_8813-005 Causal - 19 727 19_8813_8813-006_8813-006 Causal - 19 728 19_8813_8813-007_8813-007 Causal - 19
2496_249714s14	c.2496_2497ins14	15		p.Leu833HisfsX13	ATPase	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 86 2_02-SG644-IGR_1885_1885 Causal - 2
2459_2634dup	c.2459_2634dup	16		p.Gln879ValfsX21	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	6
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 780 19_13048_13048-001_13048- Causal - 19 781 19_9497_9497-001_9497-001 Causal - 19 2478 SO_-3200---G03436 Causal - 71 2485 SO_-3200---G03554 Causal - 71 3215 20_20-46714671-01--- Causal - 20 3216 20_20-46714671-03--- Causal - 20
2635_2805del	c.2635_2805del	16		p.Gln879LysfsX7	MSH3/MSH6 interaction	Causal	French MMR network	22/06/15	3
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3148 37_L12.14425258151172 Causal - 37 3149 37_L12.14425273151238 Causal - 37 3150 37_L12.14427833160244 Causal - 37
2647dup	c.2647dup	16		p.Ile883AsnfsX16	MSH3/MSH6 interaction	Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 3154 4_13067305334509 Causal - 4
1_2805dup	c.1_2805dup			p.Stop935_936ins934AA		Causal	French MMR network	21/02/14	1
UMD_id Sample ID Gender Biological significance Geographic origin Mutation type References 556 19_13098_13098-001_13098- Causal - 19