NM_001040108.2(MLH3):c.2476A>G (p.Asn826Asp)
|
rs175081
|
0.98791
|
NM_000251.3(MSH2):c.2210+317G>C
|
rs4638843
|
0.92052
|
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu)
|
rs2228006
|
0.86482
|
NM_000535.7(PMS2):c.780C>G (p.Ser260=)
|
rs1805319
|
0.82058
|
NM_000179.3(MSH6):c.3173-101G>C
|
rs2072447
|
0.78513
|
NM_000179.3(MSH6):c.3802-40C>G
|
rs3136367
|
0.73398
|
NM_000179.3(MSH6):c.628-874C>T
|
rs3136329
|
0.64557
|
NM_002354.3(EPCAM):c.344T>C (p.Met115Thr)
|
rs1126497
|
0.58219
|
NM_000251.3(MSH2):c.211+9C>G
|
rs2303426
|
0.55454
|
NM_000251.3(MSH2):c.211+98T>C
|
rs3815865
|
0.55408
|
NM_000179.3(MSH6):c.3556+146G>A
|
rs7562048
|
0.54192
|
NM_000251.3(MSH2):c.1276+6765G>A
|
rs3771274
|
0.53492
|
NM_000251.3(MSH2):c.1077-80G>A
|
rs2347794
|
0.53152
|
NM_014805.4(EPM2AIP1):c.*2570G>T
|
rs9311149
|
0.53114
|
NM_001040108.2(MLH3):c.4335A>G (p.Gln1445=)
|
rs13712
|
0.52176
|
NM_000251.3(MSH2):c.1511-1516C>T
|
rs3771281
|
0.48800
|
NM_000251.3(MSH2):c.2006-265A>G
|
rs2059520
|
0.48792
|
NM_014239.4(EIF2B2):c.*180G>C
|
rs4556
|
0.45760
|
NM_000251.2(MSH2):c.*272+4059G>A
|
rs6720549
|
0.43302
|
NM_001040108.2(MLH3):c.*3148A>G
|
rs108621
|
0.42508
|
NM_001040108.2(MLH3):c.2531C>T (p.Pro844Leu)
|
rs175080
|
0.42416
|
NM_000249.4(MLH1):c.1668-19A>G
|
rs9876116
|
0.41821
|
NM_000251.3(MSH2):c.1511-91G>T
|
rs3732182
|
0.41551
|
NM_000249.4(MLH1):c.790+955C>A
|
rs1558528
|
0.41529
|
NM_000249.4(MLH1):c.453+79A>G
|
rs4234259
|
0.41512
|
NM_000249.4(MLH1):c.1990-121C>T
|
rs2241031
|
0.41163
|
NM_001040108.2(MLH3):c.*2417G>A
|
rs175049
|
0.40460
|
NM_000251.3(MSH2):c.1661+12G>A
|
rs3732183
|
0.40290
|
NM_000249.4(MLH1):c.207+571C>T
|
rs9852378
|
0.39684
|
NM_000249.4(MLH1):c.1038+1005G>T
|
rs3774338
|
0.39669
|
NM_000251.3(MSH2):c.1277-212T>A
|
rs1981928
|
0.39571
|
NM_001040108.2(MLH3):c.*1877T>C
|
rs108622
|
0.39486
|
NM_001040108.2(MLH3):c.*958G>T
|
rs398896
|
0.39375
|
NM_001040108.2(MLH3):c.*957C>A
|
rs424120
|
0.39343
|
NM_000249.4(MLH1):c.1668-885T>C
|
rs748766
|
0.37254
|
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)
|
rs1805321
|
0.37107
|
NM_000249.4(MLH1):c.1039-78A>G
|
rs11129748
|
0.36570
|
NM_000249.4(MLH1):c.1558+2204A>C
|
rs3774335
|
0.36225
|
NM_000249.4(MLH1):c.1559-3171A>G
|
rs4678925
|
0.35667
|
NM_000249.4(MLH1):c.791-1406C>T
|
rs4647269
|
0.35636
|
NM_000249.4(MLH1):c.306+416A>C
|
rs4647222
|
0.35615
|
NM_000535.7(PMS2):c.705+17A>G
|
rs62456182
|
0.33782
|
NM_000179.3(MSH6):c.3438+14A>T
|
rs2020911
|
0.32279
|
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)
|
rs1802683
|
0.30966
|
NM_000179.2(MSH6):c.-557T>G
|
rs3136228
|
0.29969
|
NM_000179.3(MSH6):c.457+52T>A
|
rs3136282
|
0.29585
|
NM_000179.3(MSH6):c.261-1170G>T
|
rs3136272
|
0.29018
|
NM_006303.4(AIMP2):c.-22C>A
|
rs1062372
|
0.23877
|
NM_000179.3(MSH6):c.540T>C (p.Asp180=)
|
rs1800935
|
0.23857
|
NM_000249.4(MLH1):c.655A>G (p.Ile219Val)
|
rs1799977
|
0.23048
|
NM_000249.3(MLH1):c.-93G>A
|
rs1800734
|
0.22121
|
NM_000535.7(PMS2):c.538-223A>G
|
rs2345060
|
0.21434
|
NM_001406631.1(MSH2):c.2634+4770A>C
|
rs6544991
|
0.21374
|
NM_000179.3(MSH6):c.458-52G>T
|
rs1800934
|
0.20909
|
NM_000251.3(MSH2):c.2210+274T>G
|
rs4608577
|
0.19234
|
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)
|
rs1042821
|
0.18742
|
NM_000179.3(MSH6):c.260+2214C>T
|
rs3136245
|
0.16684
|
NM_000535.5(PMS2):c.-154C>G
|
rs3735296
|
0.16495
|
NM_000535.7(PMS2):c.804-243G>A
|
rs2286680
|
0.16082
|
NM_000179.3(MSH6):c.276A>G (p.Pro92=)
|
rs1800932
|
0.14697
|
NM_000179.3(MSH6):c.260+2467A>G
|
rs3136247
|
0.14683
|
NM_000249.4(MLH1):c.307-1403A>T
|
rs1540354
|
0.14330
|
NM_000535.7(PMS2):c.1621= (p.Lys541=)
|
rs2228006
|
0.13518
|
NM_000179.3(MSH6):c.260+22C>G
|
rs55927047
|
0.13136
|
NM_000179.3(MSH6):c.457+394T>C
|
rs3136284
|
0.12872
|
NM_000179.3(MSH6):c.186C>A (p.Arg62=)
|
rs1042820
|
0.12806
|
NM_000535.7(PMS2):c.2007-4G>A
|
rs1805326
|
0.12350
|
NM_000179.3(MSH6):c.457+1223T>C
|
rs2348244
|
0.12176
|
NM_000535.7(PMS2):c.2007-7C>T
|
rs55954143
|
0.12135
|
NM_000251.1(MSH2):c.-433T>G
|
rs1863332
|
0.11834
|
NM_000179.3(MSH6):c.628-56C>T
|
rs1800936
|
0.11629
|
NM_000535.7(PMS2):c.2466T>C (p.Leu822=)
|
rs10000
|
0.11447
|
NM_016467.5(ORMDL1):c.-118+190C>A
|
rs5742926
|
0.11427
|
NM_000251.2(MSH2):c.-118T>C
|
rs2303425
|
0.10354
|
NM_000251.3(MSH2):c.1076+3400C>T
|
rs4952887
|
0.10157
|
NM_000251.3(MSH2):c.1277-6990T>G
|
rs13408008
|
0.10114
|
NM_000179.2(MSH6):c.-448G>A
|
rs3136229
|
0.09540
|
NM_000251.3(MSH2):c.2635-214T>C
|
rs2042649
|
0.09372
|
NM_000251.3(MSH2):c.1759+501A>G
|
rs17036614
|
0.09371
|
NM_000251.3(MSH2):c.1511-9A>T
|
rs12998837
|
0.09123
|
NM_000251.3(MSH2):c.1277-5849T>C
|
rs17036577
|
0.08736
|
NM_000251.3(MSH2):c.2006-6T>C
|
rs2303428
|
0.08349
|
NM_000179.3(MSH6):c.3172+171C>T
|
rs3136337
|
0.08328
|
NM_000179.3(MSH6):c.627+1200T>C
|
rs3136326
|
0.07750
|
NM_000179.2(MSH6):c.-159C>T
|
rs41540312
|
0.07535
|
NM_000179.3(MSH6):c.642C>T (p.Tyr214=)
|
rs1800937
|
0.07457
|
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)
|
rs10254120
|
0.07445
|
NM_000535.7(PMS2):c.164-108G>C
|
rs12538294
|
0.06053
|
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys)
|
rs1805323
|
0.05742
|
NM_000249.4(MLH1):c.1558+14G>A
|
rs41562513
|
0.05554
|
NM_000249.4(MLH1):c.1558+4245A>G
|
rs3774332
|
0.05535
|
NM_000535.5(PMS2):c.-195T>C
|
rs2302336
|
0.04915
|
NM_006303.4(AIMP2):c.135+2080A>T
|
rs78453798
|
0.04887
|
NM_006303.4(AIMP2):c.135+1667G>T
|
rs77199218
|
0.04878
|
NM_000249.4(MLH1):c.1410-54C>T
|
rs7633154
|
0.04850
|
NM_000535.7(PMS2):c.2006+6G>A
|
rs111905775
|
0.04390
|
NM_000251.3(MSH2):c.1387-250G>A
|
rs6741393
|
0.04348
|
NM_000535.7(PMS2):c.288C>T (p.Ala96=)
|
rs12532895
|
0.03944
|
NM_000179.3(MSH6):c.261-36A>G
|
rs1800931
|
0.03614
|
NM_000179.3(MSH6):c.3556+160T>C
|
rs56320267
|
0.03454
|
NM_002354.3(EPCAM):c.904-12T>C
|
rs62139669
|
0.03374
|
NM_000249.4(MLH1):c.454-51T>C
|
rs4647255
|
0.03218
|
NM_000251.3(MSH2):c.1661+90T>C
|
rs10183143
|
0.03147
|
NM_001040108.2(MLH3):c.*2965C>T
|
rs10134636
|
0.03135
|
NM_000251.3(MSH2):c.1077-2037G>T
|
rs13425206
|
0.03061
|
NM_000249.4(MLH1):c.1668-254C>T
|
rs41552415
|
0.03054
|
NM_001040108.2(MLH3):c.2159A>G (p.Tyr720Cys)
|
rs28756988
|
0.02978
|
NM_002354.3(EPCAM):c.492-5T>C
|
rs78608315
|
0.02826
|
NM_000251.3(MSH2):c.1760-62G>A
|
rs17218439
|
0.02701
|
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)
|
rs74902811
|
0.02492
|
NM_000535.7(PMS2):c.251-72A>G
|
rs117831773
|
0.02449
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)
|
rs17217772
|
0.02317
|
NM_000535.7(PMS2):c.1488C>T (p.His496=)
|
rs1805320
|
0.02307
|
NM_002354.3(EPCAM):c.859-7C>T
|
rs72882786
|
0.02290
|
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)
|
rs2228007
|
0.02174
|
NM_001040108.2(MLH3):c.2390G>A (p.Arg797His)
|
rs28756991
|
0.02060
|
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)
|
rs28756990
|
0.02049
|
NM_000249.4(MLH1):c.1039-35A>T
|
rs867680022
|
0.02046
|
NM_000249.4(MLH1):c.885-81G>C
|
rs104894999
|
0.02021
|
NM_000179.3(MSH6):c.2253T>C (p.Asn751=)
|
rs2020913
|
0.02003
|
NM_001040108.2(MLH3):c.666G>A (p.Lys222=)
|
rs28756980
|
0.01977
|
NM_001040108.1(MLH3):c.-204G>A
|
rs116839793
|
0.01976
|
NM_000251.3(MSH2):c.573C>T (p.Leu191=)
|
rs1800151
|
0.01972
|
NM_014239.4(EIF2B2):c.*3G>C
|
rs112087431
|
0.01958
|
NM_001040108.2(MLH3):c.444G>C (p.Val148=)
|
rs11556091
|
0.01944
|
NM_001040108.2(MLH3):c.*1896A>G
|
rs28757059
|
0.01892
|
NM_001040108.2(MLH3):c.4242+13C>G
|
rs77157930
|
0.01890
|
NM_000251.3(MSH2):c.1276+51C>A
|
rs17217961
|
0.01831
|
NM_000249.4(MLH1):c.381-41A>G
|
rs4647245
|
0.01794
|
NM_002354.3(EPCAM):c.426-20A>G
|
rs6744170
|
0.01762
|
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)
|
rs4987188
|
0.01714
|
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)
|
rs1805324
|
0.01651
|
NM_001040108.2(MLH3):c.2533A>G (p.Ser845Gly)
|
rs28756992
|
0.01483
|
NM_000251.3(MSH2):c.1077-10T>C
|
rs17224360
|
0.01428
|
NM_000179.3(MSH6):c.1164C>T (p.His388=)
|
rs55708305
|
0.01384
|
NM_000179.3(MSH6):c.2272C>T (p.Leu758=)
|
rs56371757
|
0.01363
|
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln)
|
rs28756981
|
0.01348
|
NM_000249.4(MLH1):c.474C>T (p.Asn158=)
|
rs4647256
|
0.01161
|
NM_000249.4(MLH1):c.1039-8T>A
|
rs193922367
|
0.01153
|
NM_014239.4(EIF2B2):c.*56C>T
|
rs116393177
|
0.01153
|
NM_001040108.2(MLH3):c.1258G>A (p.Val420Ile)
|
rs28756982
|
0.01142
|
NM_000251.3(MSH2):c.2766T>C (p.Phe922=)
|
rs55859129
|
0.01118
|
NM_001040108.2(MLH3):c.-133C>G
|
rs145920461
|
0.01085
|
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=)
|
rs6972869
|
0.01065
|
NM_001040108.2(MLH3):c.2896T>C (p.Ser966Pro)
|
rs17782839
|
0.01052
|
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)
|
rs1805318
|
0.01006
|
NM_000249.4(MLH1):c.588+11G>C
|
rs4647258
|
0.00993
|
NM_001040108.2(MLH3):c.2825C>T (p.Thr942Ile)
|
rs17102999
|
0.00989
|
NM_001040108.2(MLH3):c.*3140C>T
|
rs77514025
|
0.00950
|
NM_000249.4(MLH1):c.1732-19T>A
|
rs77120160
|
0.00923
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00913
|
NM_001040108.2(MLH3):c.8A>G (p.Lys3Arg)
|
rs114829239
|
0.00905
|
NM_000535.7(PMS2):c.*107A>G
|
rs148520351
|
0.00901
|
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=)
|
rs2020910
|
0.00869
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
NM_000249.4(MLH1):c.637G>A (p.Val213Met)
|
rs2308317
|
0.00818
|
NM_001040108.2(MLH3):c.*2407T>C
|
rs74064149
|
0.00791
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
NM_001040108.2(MLH3):c.1870G>C (p.Glu624Gln)
|
rs28756986
|
0.00772
|
NM_001190274.2(FBXO11):c.*1173A>T
|
rs2020906
|
0.00645
|
NM_001040108.2(MLH3):c.4243-37_4243-1dup
|
rs56393982
|
0.00607
|
NM_000179.3(MSH6):c.3557-40T>A
|
rs189436849
|
0.00587
|
NM_000249.4(MLH1):c.1038+51C>T
|
rs55986674
|
0.00582
|
NM_000249.4(MLH1):c.589-15C>T
|
rs55658850
|
0.00582
|
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)
|
rs2020908
|
0.00565
|
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)
|
rs141458772
|
0.00560
|
NM_001040108.2(MLH3):c.408T>C (p.Asp136=)
|
rs61755655
|
0.00552
|
NM_001040108.2(MLH3):c.3217G>A (p.Asp1073Asn)
|
rs28756993
|
0.00551
|
NM_000179.2(MSH6):c.-210C>T
|
rs181096360
|
0.00543
|
NM_014805.3(EPM2AIP1):c.-202G>C
|
rs35032294
|
0.00539
|
NM_001040108.2(MLH3):c.*1376C>T
|
rs117160510
|
0.00527
|
NM_000251.3(MSH2):c.*141T>G
|
rs17225053
|
0.00526
|
NM_001040108.2(MLH3):c.3987+15C>T
|
rs117251698
|
0.00496
|
NM_000251.3(MSH2):c.984C>T (p.Ala328=)
|
rs4987189
|
0.00495
|
NM_001040108.2(MLH3):c.*2590T>C
|
rs138458771
|
0.00486
|
NM_001040108.2(MLH3):c.*1237A>G
|
rs114347490
|
0.00484
|
NM_000534.5(PMS1):c.1643A>G (p.Lys548Arg)
|
rs61736576
|
0.00477
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00471
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_000179.3(MSH6):c.457+13A>G
|
rs1800933
|
0.00434
|
NM_000179.3(MSH6):c.1345C>T (p.Leu449=)
|
rs3136333
|
0.00429
|
NM_001040108.2(MLH3):c.*1767G>A
|
rs142559310
|
0.00427
|
NM_000249.4(MLH1):c.545+20A>T
|
rs121909453
|
0.00424
|
NM_001040108.2(MLH3):c.*2174C>T
|
rs28757060
|
0.00420
|
NM_000249.4(MLH1):c.453+25A>G
|
rs4647246
|
0.00414
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
NM_000249.4(MLH1):c.307-29C>A
|
rs139620056
|
0.00398
|
NM_000251.3(MSH2):c.1662-9G>A
|
rs17218356
|
0.00398
|
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys)
|
rs115052399
|
0.00370
|
NM_000535.7(PMS2):c.1266G>A (p.Glu422=)
|
rs138049175
|
0.00348
|
NM_001040108.2(MLH3):c.3315C>A (p.Asp1105Glu)
|
rs28757008
|
0.00323
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
NM_002354.3(EPCAM):c.491+19A>T
|
rs114475602
|
0.00306
|
NM_002354.3(EPCAM):c.135A>G (p.Gln45=)
|
rs72882770
|
0.00298
|
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
|
rs55907433
|
0.00297
|
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys)
|
rs34625968
|
0.00253
|
NM_000179.3(MSH6):c.3439-16C>T
|
rs192614006
|
0.00237
|
NM_000251.2(MSH2):c.-185C>A
|
rs188036046
|
0.00223
|
NM_002354.3(EPCAM):c.858G>A (p.Leu286=)
|
rs138718438
|
0.00222
|
NM_002354.3(EPCAM):c.515C>T (p.Thr172Met)
|
rs74531854
|
0.00220
|
NM_001040108.2(MLH3):c.3987+7C>A
|
rs28757028
|
0.00219
|
NM_000179.2(MSH6):c.-118G>A
|
rs556432240
|
0.00214
|
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)
|
rs141893001
|
0.00203
|
NM_000251.3(MSH2):c.*226A>G
|
rs17225060
|
0.00201
|
NM_001040108.2(MLH3):c.*3206C>T
|
rs188135545
|
0.00201
|
NM_001040108.2(MLH3):c.3644-13C>T
|
rs189760727
|
0.00199
|
NM_001040108.2(MLH3):c.2425A>G (p.Met809Val)
|
rs61752722
|
0.00197
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
NM_002354.3(EPCAM):c.859-6A>G
|
rs150307203
|
0.00191
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
NM_001040108.2(MLH3):c.*1448G>A
|
rs185975350
|
0.00185
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00184
|
NM_000535.7(PMS2):c.23+10G>C
|
rs192027828
|
0.00182
|
NM_001040108.2(MLH3):c.*3258T>C
|
rs138812028
|
0.00182
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_001040108.2(MLH3):c.2490T>G (p.Phe830Leu)
|
rs114015611
|
0.00177
|
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)
|
rs587780057
|
0.00174
|
NM_001040108.2(MLH3):c.735C>T (p.Tyr245=)
|
rs111782152
|
0.00172
|
NM_001040108.2(MLH3):c.1939C>T (p.Arg647Cys)
|
rs28756987
|
0.00171
|
NM_001040108.2(MLH3):c.-4T>G
|
rs28756977
|
0.00168
|
NM_001040108.2(MLH3):c.1799G>A (p.Arg600Gln)
|
rs28756984
|
0.00168
|
NM_001040108.2(MLH3):c.2167G>A (p.Val723Ile)
|
rs28756989
|
0.00168
|
NM_000249.4(MLH1):c.885-24T>A
|
rs201594027
|
0.00164
|
NM_001040108.2(MLH3):c.2924A>G (p.Asn975Ser)
|
rs141066164
|
0.00160
|
NM_001040108.2(MLH3):c.429G>A (p.Gly143=)
|
rs138943686
|
0.00160
|
NM_000179.3(MSH6):c.3801+17T>C
|
rs3136365
|
0.00159
|
NM_000251.1(MSH2):c.-179C>T
|
rs17224094
|
0.00159
|
NM_000251.3(MSH2):c.1277-8T>C
|
rs145400590
|
0.00159
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_000251.2(MSH2):c.-161C>T
|
rs17224101
|
0.00154
|
NM_001040108.2(MLH3):c.*1470C>T
|
rs181758061
|
0.00154
|
NM_000179.3(MSH6):c.3801+21T>C
|
rs34315174
|
0.00151
|
NM_000249.4(MLH1):c.2146G>A (p.Val716Met)
|
rs35831931
|
0.00143
|
NM_000251.3(MSH2):c.1387-8G>T
|
rs187525243
|
0.00143
|
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)
|
rs149202766
|
0.00142
|
NM_000251.3(MSH2):c.1737A>G (p.Lys579=)
|
rs61756467
|
0.00138
|
NM_000179.3(MSH6):c.3647-6T>A
|
rs182871847
|
0.00134
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_001040108.2(MLH3):c.359T>C (p.Phe120Ser)
|
rs28756979
|
0.00120
|
NM_000535.7(PMS2):c.2340C>T (p.Pro780=)
|
rs142230276
|
0.00117
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00110
|
NM_001040108.2(MLH3):c.3746C>T (p.Ser1249Phe)
|
rs139265757
|
0.00108
|
NM_002354.3(EPCAM):c.159A>C (p.Ala53=)
|
rs150562209
|
0.00105
|
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys)
|
rs28939071
|
0.00104
|
NM_001040108.2(MLH3):c.394G>A (p.Ala132Thr)
|
rs148095325
|
0.00102
|
NM_000179.3(MSH6):c.984C>T (p.Ser328=)
|
rs138143769
|
0.00101
|
NM_000249.4(MLH1):c.589-25G>A
|
rs188146618
|
0.00101
|
NM_000251.3(MSH2):c.819A>G (p.Val273=)
|
rs146577635
|
0.00101
|
NM_000251.3(MSH2):c.942+2T>A
|
rs587779195
|
0.00101
|
NM_001040108.2(MLH3):c.3488G>A (p.Gly1163Asp)
|
rs28757011
|
0.00100
|
NM_001040108.2(MLH3):c.423C>T (p.Ser141=)
|
rs142179277
|
0.00100
|
NM_000535.7(PMS2):c.353+9A>C
|
rs139990791
|
0.00099
|
NM_000179.3(MSH6):c.3802-22G>A
|
rs373409282
|
0.00097
|
NM_000179.3(MSH6):c.3265T>C (p.Leu1089=)
|
rs34490141
|
0.00096
|
NM_001040108.2(MLH3):c.2670G>A (p.Met890Ile)
|
rs147021156
|
0.00093
|
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu)
|
rs200313585
|
0.00088
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_001040108.2(MLH3):c.*1159A>C
|
rs549461634
|
0.00081
|
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)
|
rs63750447
|
0.00077
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=)
|
rs139881155
|
0.00075
|
NM_001040108.2(MLH3):c.2838C>A (p.Ser946=)
|
rs181990057
|
0.00073
|
NM_000249.4(MLH1):c.2104-11G>A
|
rs147984696
|
0.00072
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_000179.3(MSH6):c.3173-35C>T
|
rs186475107
|
0.00070
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00064
|
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)
|
rs141711342
|
0.00063
|
NM_000249.4(MLH1):c.375A>G (p.Ala125=)
|
rs1800144
|
0.00062
|
NM_000249.4(MLH1):c.1039-7_1040del
|
rs1559551447
|
0.00061
|
NM_001040108.2(MLH3):c.1234A>G (p.Lys412Glu)
|
rs61754769
|
0.00061
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
NM_000179.3(MSH6):c.1869C>T (p.Pro623=)
|
rs141242295
|
0.00058
|
NM_001040108.2(MLH3):c.2043T>C (p.Tyr681=)
|
rs143573376
|
0.00056
|
NM_000251.2(MSH2):c.-148C>T
|
rs577322036
|
0.00053
|
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)
|
rs63750330
|
0.00053
|
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp)
|
rs115670442
|
0.00048
|
NM_001040108.2(MLH3):c.2911G>A (p.Val971Ile)
|
rs41555714
|
0.00048
|
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)
|
rs34136999
|
0.00046
|
NM_001040108.2(MLH3):c.*2469A>G
|
rs764557856
|
0.00046
|
NM_000179.3(MSH6):c.491A>C (p.His164Pro)
|
rs146469162
|
0.00045
|
NM_000249.4(MLH1):c.1410-10T>G
|
rs372053184
|
0.00044
|
NM_000251.3(MSH2):c.1680T>C (p.Asn560=)
|
rs200056411
|
0.00043
|
NM_001040108.2(MLH3):c.*888C>T
|
rs181069483
|
0.00043
|
NM_000179.3(MSH6):c.3960A>G (p.Ala1320=)
|
rs373425206
|
0.00042
|
NM_000251.3(MSH2):c.*129T>C
|
rs587779059
|
0.00042
|
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)
|
rs61756468
|
0.00042
|
NM_000249.4(MLH1):c.702G>A (p.Glu234=)
|
rs35908749
|
0.00041
|
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
NM_001040108.2(MLH3):c.-124A>C
|
rs566279601
|
0.00041
|
NM_002354.3(EPCAM):c.304A>G (p.Ser102Gly)
|
rs34474955
|
0.00041
|
NM_000249.4(MLH1):c.198C>T (p.Thr66=)
|
rs61751642
|
0.00040
|
NM_001040108.2(MLH3):c.902A>T (p.Glu301Val)
|
rs77687901
|
0.00040
|
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe)
|
rs17224367
|
0.00039
|
NM_000535.7(PMS2):c.1560G>A (p.Ala520=)
|
rs201167814
|
0.00039
|
NM_001040108.2(MLH3):c.837C>T (p.Cys279=)
|
rs149962294
|
0.00039
|
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile)
|
rs56105708
|
0.00039
|
NM_000251.3(MSH2):c.1511-41G>C
|
rs202215396
|
0.00038
|
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)
|
rs756883400
|
0.00038
|
NM_001040108.2(MLH3):c.3344G>A (p.Arg1115Gln)
|
rs78311619
|
0.00038
|
NM_000179.3(MSH6):c.1449G>T (p.Val483=)
|
rs35590297
|
0.00037
|
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)
|
rs34938432
|
0.00037
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)
|
rs34374438
|
0.00036
|
NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile)
|
rs142124529
|
0.00035
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
NM_001040108.2(MLH3):c.1637G>T (p.Arg546Ile)
|
rs55725216
|
0.00034
|
NM_003242.6(TGFBR2):c.-193G>A
|
rs886058301
|
0.00034
|
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
|
rs34833812
|
0.00034
|
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala)
|
rs3136334
|
0.00033
|
NM_000251.3(MSH2):c.2154A>G (p.Gln718=)
|
rs63750810
|
0.00033
|
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val)
|
rs63750252
|
0.00032
|
NM_000535.7(PMS2):c.988+11T>C
|
rs139969671
|
0.00032
|
NM_001040108.2(MLH3):c.2449A>G (p.Ser817Gly)
|
rs143278116
|
0.00032
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
NM_001040108.2(MLH3):c.*1291G>A
|
rs543186188
|
0.00031
|
NM_001040108.2(MLH3):c.4011+15T>G
|
rs139032600
|
0.00031
|
NM_000251.3(MSH2):c.1661+11C>T
|
rs377154011
|
0.00030
|
NM_000535.7(PMS2):c.706-3C>T
|
rs1229860023
|
0.00030
|
NM_001040108.2(MLH3):c.1168T>A (p.Phe390Ile)
|
rs61752721
|
0.00030
|
NM_001040108.2(MLH3):c.2650G>A (p.Glu884Lys)
|
rs61752723
|
0.00030
|
NM_000249.4(MLH1):c.1897-17C>G
|
rs2308316
|
0.00029
|
NM_000251.3(MSH2):c.471C>A (p.Gly157=)
|
rs61756463
|
0.00029
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00029
|
NM_001040108.2(MLH3):c.2180G>A (p.Ser727Asn)
|
rs116526686
|
0.00029
|
NM_001040108.2(MLH3):c.4194T>C (p.Pro1398=)
|
rs1304593902
|
0.00029
|
NM_002354.3(EPCAM):c.577A>G (p.Ile193Val)
|
rs200676965
|
0.00029
|
NM_003242.6(TGFBR2):c.263+17A>C
|
rs34771516
|
0.00029
|
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)
|
rs142254875
|
0.00028
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_001040108.2(MLH3):c.*1073A>C
|
rs1032410483
|
0.00026
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
NM_000251.3(MSH2):c.1277-16T>C
|
rs368653974
|
0.00024
|
NM_000179.3(MSH6):c.3438+11_3438+14del
|
rs377746844
|
0.00023
|
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)
|
rs267608026
|
0.00023
|
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)
|
rs63750702
|
0.00022
|
NM_000249.4(MLH1):c.307-19A>G
|
rs121909451
|
0.00022
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00022
|
NM_001040108.2(MLH3):c.*889G>A
|
rs886050772
|
0.00022
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
NM_001040108.2(MLH3):c.4180G>A (p.Ala1394Thr)
|
rs138006166
|
0.00021
|
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln)
|
rs63750361
|
0.00020
|
NM_000535.7(PMS2):c.779C>T (p.Ser260Phe)
|
rs777286241
|
0.00020
|
NM_001040108.2(MLH3):c.2775C>A (p.Asn925Lys)
|
rs144010264
|
0.00020
|
NM_002354.3(EPCAM):c.458G>C (p.Arg153Thr)
|
rs189732445
|
0.00020
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
NM_000179.3(MSH6):c.4001+11_4001+15dup
|
rs587779302
|
0.00019
|
NM_000249.4(MLH1):c.394G>C (p.Asp132His)
|
rs28930073
|
0.00019
|
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys)
|
rs63750006
|
0.00019
|
NM_000251.3(MSH2):c.1276+47T>A
|
rs148018406
|
0.00019
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
NM_000251.3(MSH2):c.481G>A (p.Val161Ile)
|
rs149511545
|
0.00019
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
NM_001040108.2(MLH3):c.*1235T>C
|
rs189021867
|
0.00019
|
NM_001040108.2(MLH3):c.3280+14A>T
|
rs142042839
|
0.00019
|
NM_001040108.2(MLH3):c.3563C>G (p.Ser1188Ter)
|
rs193219754
|
0.00019
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
NM_001040108.2(MLH3):c.2547T>C (p.Ser849=)
|
rs183078420
|
0.00018
|
NM_001040108.2(MLH3):c.3137G>A (p.Arg1046Gln)
|
rs201303087
|
0.00018
|
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)
|
rs201541505
|
0.00017
|
NM_000535.7(PMS2):c.-7T>C
|
rs199660792
|
0.00017
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
NM_000179.3(MSH6):c.2925C>T (p.Asn975=)
|
rs139026662
|
0.00016
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00016
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
NM_000251.3(MSH2):c.1276+16G>A
|
rs368120695
|
0.00016
|
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)
|
rs370196722
|
0.00016
|
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)
|
rs375968016
|
0.00016
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
NM_001040108.2(MLH3):c.713A>C (p.Tyr238Ser)
|
rs144707485
|
0.00016
|
NM_002354.3(EPCAM):c.93C>G (p.Asn31Lys)
|
rs555329870
|
0.00016
|
NM_000249.4(MLH1):c.1820T>A (p.Leu607His)
|
rs41295284
|
0.00015
|
NM_000251.2(MSH2):c.-116G>T
|
rs587782786
|
0.00015
|
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)
|
rs140754514
|
0.00015
|
NM_000535.7(PMS2):c.1467G>A (p.Glu489=)
|
rs542522853
|
0.00015
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)
|
rs63750650
|
0.00014
|
NM_000251.3(MSH2):c.1748A>G (p.Asn583Ser)
|
rs201118107
|
0.00014
|
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)
|
rs377403073
|
0.00014
|
NM_001040108.2(MLH3):c.2327A>T (p.Asn776Ile)
|
rs150742442
|
0.00014
|
NM_001040108.2(MLH3):c.3637G>A (p.Glu1213Lys)
|
rs140899869
|
0.00014
|
NM_001040108.2(MLH3):c.3752G>A (p.Arg1251Gln)
|
rs201721635
|
0.00014
|
NM_001040108.2(MLH3):c.4227G>A (p.Leu1409=)
|
rs779314962
|
0.00014
|
NM_001040108.2(MLH3):c.914T>C (p.Ile305Thr)
|
rs150796590
|
0.00014
|
NM_000179.3(MSH6):c.-56G>T
|
rs886056139
|
0.00013
|
NM_000179.3(MSH6):c.187T>C (p.Ser63Pro)
|
rs763702846
|
0.00013
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
NM_000249.4(MLH1):c.117-48A>G
|
rs377111182
|
0.00013
|
NM_000251.3(MSH2):c.-3G>C
|
rs587779960
|
0.00013
|
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys)
|
rs202145681
|
0.00013
|
NM_000251.3(MSH2):c.505A>G (p.Ile169Val)
|
rs63750716
|
0.00013
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
NM_000535.7(PMS2):c.255G>A (p.Leu85=)
|
rs200491279
|
0.00013
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
NM_003242.6(TGFBR2):c.94+16238C>T
|
rs149757320
|
0.00013
|
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)
|
rs587782651
|
0.00012
|
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln)
|
rs398123230
|
0.00012
|
NM_000249.4(MLH1):c.1050A>G (p.Pro350=)
|
rs137937003
|
0.00012
|
NM_000249.4(MLH1):c.843A>C (p.Ala281=)
|
rs146796765
|
0.00012
|
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys)
|
rs376042544
|
0.00012
|
NM_000535.7(PMS2):c.2445G>A (p.Ser815=)
|
rs753199796
|
0.00012
|
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)
|
rs372297364
|
0.00012
|
NM_001040108.2(MLH3):c.2241G>A (p.Leu747=)
|
rs139155264
|
0.00012
|
NM_002354.3(EPCAM):c.616G>A (p.Asp206Asn)
|
rs367993015
|
0.00012
|
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)
|
rs34014629
|
0.00011
|
NM_000179.3(MSH6):c.3674C>T (p.Thr1225Met)
|
rs63750370
|
0.00011
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
NM_000179.3(MSH6):c.942C>G (p.Ser314Arg)
|
rs150440246
|
0.00011
|
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)
|
rs150478207
|
0.00011
|
NM_000249.4(MLH1):c.884+16A>G
|
rs377598055
|
0.00011
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
NM_000251.3(MSH2):c.1461C>G (p.Asp487Glu)
|
rs35107951
|
0.00011
|
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)
|
rs548407418
|
0.00011
|
NM_000251.3(MSH2):c.198C>T (p.Tyr66=)
|
rs730881784
|
0.00011
|
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)
|
rs2229061
|
0.00011
|
NM_000251.3(MSH2):c.2308A>G (p.Ile770Val)
|
rs63750684
|
0.00011
|
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)
|
rs551060742
|
0.00011
|
NM_000251.3(MSH2):c.508C>G (p.Gln170Glu)
|
rs63750843
|
0.00011
|
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser)
|
rs151129360
|
0.00011
|
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His)
|
rs370236216
|
0.00011
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00011
|
NM_000535.7(PMS2):c.1689A>G (p.Arg563=)
|
rs551226281
|
0.00011
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
NM_001040108.2(MLH3):c.1500G>A (p.Pro500=)
|
rs554385170
|
0.00011
|
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)
|
rs542838372
|
0.00010
|
NM_000179.3(MSH6):c.1875C>T (p.Ser625=)
|
rs63749886
|
0.00010
|
NM_000179.3(MSH6):c.2417C>G (p.Ser806Cys)
|
rs372990379
|
0.00010
|
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)
|
rs191109849
|
0.00010
|
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser)
|
rs587779934
|
0.00010
|
NM_000179.3(MSH6):c.3788G>A (p.Arg1263His)
|
rs147852216
|
0.00010
|
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr)
|
rs63751225
|
0.00010
|
NM_000251.3(MSH2):c.*221G>T
|
rs587779060
|
0.00010
|
NM_000251.3(MSH2):c.-181G>A
|
rs786201698
|
0.00010
|
NM_000251.3(MSH2):c.1386+23T>G
|
rs747646424
|
0.00010
|
NM_000251.3(MSH2):c.1662-23A>G
|
rs56404027
|
0.00010
|
NM_000535.7(PMS2):c.2276-10A>G
|
rs573900018
|
0.00010
|
NM_000535.7(PMS2):c.340C>T (p.Leu114Phe)
|
rs757441871
|
0.00010
|
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)
|
rs114090343
|
0.00010
|
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg)
|
rs151251082
|
0.00010
|
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu)
|
rs587780062
|
0.00010
|
NM_001040108.2(MLH3):c.2638C>G (p.Leu880Val)
|
rs201453923
|
0.00010
|
NM_001040108.2(MLH3):c.3367C>T (p.Gln1123Ter)
|
rs151133595
|
0.00010
|
NM_001040108.2(MLH3):c.3636C>T (p.Gly1212=)
|
rs571755678
|
0.00010
|
NM_001040108.2(MLH3):c.729A>G (p.Ala243=)
|
rs367629280
|
0.00010
|
NM_003242.5(TGFBR2):c.-371A>C
|
rs886058297
|
0.00010
|
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser)
|
rs587778531
|
0.00009
|
NM_000179.3(MSH6):c.1730G>A (p.Arg577His)
|
rs376220212
|
0.00009
|
NM_000179.3(MSH6):c.3024C>T (p.Thr1008=)
|
rs587780675
|
0.00009
|
NM_000179.3(MSH6):c.3172+20T>C
|
rs3136335
|
0.00009
|
NM_000179.3(MSH6):c.3439-10T>A
|
rs730881819
|
0.00009
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)
|
rs1800938
|
0.00009
|
NM_000249.3(MLH1):c.-101C>G
|
rs772482820
|
0.00009
|
NM_000249.3(MLH1):c.-42C>T
|
rs41285097
|
0.00009
|
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser)
|
rs375853155
|
0.00009
|
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)
|
rs63750876
|
0.00009
|
NM_000251.2(MSH2):c.-73G>A
|
rs552303079
|
0.00009
|
NM_000251.3(MSH2):c.-29C>T
|
rs199841800
|
0.00009
|
NM_000251.3(MSH2):c.114C>G (p.Asp38Glu)
|
rs587779074
|
0.00009
|
NM_000251.3(MSH2):c.1276+11A>G
|
rs189015988
|
0.00009
|
NM_000251.3(MSH2):c.1505A>G (p.Asp502Gly)
|
rs148192104
|
0.00009
|
NM_000251.3(MSH2):c.2802G>A (p.Thr934=)
|
rs150259097
|
0.00009
|
NM_000251.3(MSH2):c.317G>A (p.Arg106Lys)
|
rs41295286
|
0.00009
|
NM_000251.3(MSH2):c.367-19A>T
|
rs730881783
|
0.00009
|
NM_000251.3(MSH2):c.97A>C (p.Thr33Pro)
|
rs63751107
|
0.00009
|
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)
|
rs63751023
|
0.00009
|
NM_000535.7(PMS2):c.1980C>T (p.Ala660=)
|
rs368928783
|
0.00009
|
NM_000535.7(PMS2):c.993C>T (p.Cys331=)
|
rs186577215
|
0.00009
|
NM_001040108.2(MLH3):c.*1110T>C
|
rs774420872
|
0.00009
|
NM_001040108.2(MLH3):c.2356G>A (p.Val786Ile)
|
rs372089146
|
0.00009
|
NM_001040108.2(MLH3):c.2435G>C (p.Ser812Thr)
|
rs763408801
|
0.00009
|
NM_001040108.2(MLH3):c.4091-13G>C
|
rs369368840
|
0.00009
|
NM_001040108.2(MLH3):c.873T>G (p.Asn291Lys)
|
rs767413852
|
0.00009
|
NM_001040108.2(MLH3):c.889C>T (p.Arg297Trp)
|
rs775001669
|
0.00009
|
NM_002354.3(EPCAM):c.111C>G (p.Asn37Lys)
|
rs543584983
|
0.00009
|
NR_136154.1(PMS2):n.13T>C
|
rs746329908
|
0.00009
|
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)
|
rs199876321
|
0.00008
|
NM_000179.3(MSH6):c.2493C>T (p.Pro831=)
|
rs778911612
|
0.00008
|
NM_000179.3(MSH6):c.457+19_457+20del
|
rs1491215647
|
0.00008
|
NM_000249.4(MLH1):c.1558+5G>A
|
rs199935667
|
0.00008
|
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu)
|
rs63751684
|
0.00008
|
NM_000251.3(MSH2):c.1159C>T (p.Leu387Phe)
|
rs751249745
|
0.00008
|
NM_000251.3(MSH2):c.1217G>A (p.Arg406Gln)
|
rs146567853
|
0.00008
|
NM_000251.3(MSH2):c.1488A>G (p.Leu496=)
|
rs267607960
|
0.00008
|
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)
|
rs55778204
|
0.00008
|
NM_000251.3(MSH2):c.2458+16G>A
|
rs373624698
|
0.00008
|
NM_000251.3(MSH2):c.2500G>A (p.Ala834Thr)
|
rs63750757
|
0.00008
|
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr)
|
rs63750466
|
0.00008
|
NM_000251.3(MSH2):c.820A>G (p.Ile274Val)
|
rs371944271
|
0.00008
|
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)
|
rs63751454
|
0.00008
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp)
|
rs530993704
|
0.00008
|
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)
|
rs730881787
|
0.00007
|
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)
|
rs202127474
|
0.00007
|
NM_000249.4(MLH1):c.1379A>C (p.Glu460Ala)
|
rs202038499
|
0.00007
|
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)
|
rs63750809
|
0.00007
|
NM_000249.4(MLH1):c.2213G>A (p.Gly738Glu)
|
rs148317871
|
0.00007
|
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly)
|
rs41295282
|
0.00007
|
NM_000249.4(MLH1):c.42A>C (p.Thr14=)
|
rs369737664
|
0.00007
|
NM_000249.4(MLH1):c.545+19G>T
|
rs41285099
|
0.00007
|
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)
|
rs4986984
|
0.00007
|
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)
|
rs267607939
|
0.00007
|
NM_000251.3(MSH2):c.1560A>G (p.Gly520=)
|
rs63750820
|
0.00007
|
NM_000251.3(MSH2):c.2732T>G (p.Leu911Arg)
|
rs41295182
|
0.00007
|
NM_000251.3(MSH2):c.818T>C (p.Val273Ala)
|
rs144288433
|
0.00007
|
NM_000535.7(PMS2):c.1280G>A (p.Arg427His)
|
rs112902065
|
0.00007
|
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)
|
rs63751211
|
0.00007
|
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln)
|
rs587781909
|
0.00007
|
NM_000535.7(PMS2):c.226G>C (p.Glu76Gln)
|
rs371682056
|
0.00007
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
NM_001040108.2(MLH3):c.*1447C>T
|
rs1351576949
|
0.00007
|
NM_001040108.2(MLH3):c.*646G>A
|
rs754358704
|
0.00007
|
NM_001040108.2(MLH3):c.3101C>G (p.Thr1034Ser)
|
rs557921152
|
0.00007
|
NM_001040108.2(MLH3):c.3248C>A (p.Thr1083Lys)
|
rs561184221
|
0.00007
|
NM_001040108.2(MLH3):c.3280+8C>T
|
rs544870680
|
0.00007
|
NM_001040108.2(MLH3):c.3576C>T (p.Leu1192=)
|
rs376981545
|
0.00007
|
NM_001040108.2(MLH3):c.4268G>A (p.Arg1423His)
|
rs752635498
|
0.00007
|
NM_001040108.2(MLH3):c.82G>T (p.Glu28Ter)
|
rs780501758
|
0.00007
|
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)
|
rs61753793
|
0.00006
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
NM_000179.3(MSH6):c.1162C>G (p.His388Asp)
|
rs770386388
|
0.00006
|
NM_000179.3(MSH6):c.1498G>A (p.Ala500Thr)
|
rs786204127
|
0.00006
|
NM_000179.3(MSH6):c.178T>C (p.Leu60=)
|
rs35819209
|
0.00006
|
NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser)
|
rs587781616
|
0.00006
|
NM_000179.3(MSH6):c.2724A>G (p.Glu908=)
|
rs35389622
|
0.00006
|
NM_000179.3(MSH6):c.2906A>T (p.Tyr969Phe)
|
rs63749919
|
0.00006
|
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)
|
rs376243329
|
0.00006
|
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)
|
rs376799914
|
0.00006
|
NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr)
|
rs150990541
|
0.00006
|
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)
|
rs199594809
|
0.00006
|
NM_000179.3(MSH6):c.4000C>T (p.Arg1334Trp)
|
rs773763465
|
0.00006
|
NM_000179.3(MSH6):c.643G>A (p.Val215Ile)
|
rs145959653
|
0.00006
|
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp)
|
rs374486449
|
0.00006
|
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)
|
rs63751467
|
0.00006
|
NM_000249.4(MLH1):c.1104G>A (p.Ser368=)
|
rs769364808
|
0.00006
|
NM_000249.4(MLH1):c.117-39G>A
|
rs1057517605
|
0.00006
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00006
|
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly)
|
rs63751612
|
0.00006
|
NM_000249.4(MLH1):c.1989+37T>C
|
rs374195343
|
0.00006
|
NM_000249.4(MLH1):c.207+523G>A
|
rs760066426
|
0.00006
|
NM_000249.4(MLH1):c.2174G>A (p.Arg725His)
|
rs566928243
|
0.00006
|
NM_000249.4(MLH1):c.453G>A (p.Thr151=)
|
rs369521379
|
0.00006
|
NM_000249.4(MLH1):c.545+43C>G
|
rs267607761
|
0.00006
|
NM_000249.4(MLH1):c.69A>G (p.Glu23=)
|
rs63750555
|
0.00006
|
NM_000249.4(MLH1):c.954C>T (p.His318=)
|
rs146777069
|
0.00006
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_000251.1(MSH2):c.-182C>T
|
rs876658327
|
0.00006
|
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro)
|
rs587779086
|
0.00006
|
NM_000251.3(MSH2):c.2271C>T (p.Tyr757=)
|
rs56076152
|
0.00006
|
NM_000251.3(MSH2):c.2400A>G (p.Leu800=)
|
rs201298777
|
0.00006
|
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)
|
rs41295296
|
0.00006
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00006
|
NM_000251.3(MSH2):c.499G>C (p.Asp167His)
|
rs63750255
|
0.00006
|
NM_000251.3(MSH2):c.512G>A (p.Arg171Lys)
|
rs63750902
|
0.00006
|
NM_000251.3(MSH2):c.944G>T (p.Gly315Val)
|
rs202026056
|
0.00006
|
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val)
|
rs587780039
|
0.00006
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00006
|
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg)
|
rs141084758
|
0.00006
|
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln)
|
rs368516768
|
0.00006
|
NM_000535.7(PMS2):c.1703C>A (p.Pro568Gln)
|
rs869312801
|
0.00006
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
NM_000535.7(PMS2):c.477G>A (p.Val159=)
|
rs147701251
|
0.00006
|
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)
|
rs587781934
|
0.00006
|
NM_000535.7(PMS2):c.803+23A>T
|
rs370719706
|
0.00006
|
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)
|
rs116314131
|
0.00006
|
NM_001040108.2(MLH3):c.1582T>C (p.Trp528Arg)
|
rs761221683
|
0.00006
|
NM_001040108.2(MLH3):c.1651C>T (p.Pro551Ser)
|
rs902755970
|
0.00006
|
NM_001040108.2(MLH3):c.2224C>T (p.Arg742Cys)
|
rs774817891
|
0.00006
|
NM_001040108.2(MLH3):c.277C>G (p.Arg93Gly)
|
rs28756978
|
0.00006
|
NM_001040108.2(MLH3):c.3197C>T (p.Thr1066Ile)
|
rs41564213
|
0.00006
|
NM_001040108.2(MLH3):c.3312C>T (p.Ser1104=)
|
rs149369905
|
0.00006
|
NM_001040108.2(MLH3):c.3336G>A (p.Pro1112=)
|
rs762298048
|
0.00006
|
NM_001040108.2(MLH3):c.3455G>A (p.Arg1152His)
|
rs374041909
|
0.00006
|
NM_001040108.2(MLH3):c.3466G>A (p.Val1156Ile)
|
rs184741686
|
0.00006
|
NM_001040108.2(MLH3):c.3570+9T>C
|
rs769178899
|
0.00006
|
NM_001040108.2(MLH3):c.3716-4A>G
|
rs777308221
|
0.00006
|
NM_001040108.2(MLH3):c.441A>G (p.Thr147=)
|
rs777203408
|
0.00006
|
NM_001040108.2(MLH3):c.484A>G (p.Met162Val)
|
rs188493164
|
0.00006
|
NM_001040108.2(MLH3):c.617A>G (p.Asp206Gly)
|
rs764643218
|
0.00006
|
NM_001040108.2(MLH3):c.728C>T (p.Ala243Val)
|
rs200344425
|
0.00006
|
NM_002354.3(EPCAM):c.179C>T (p.Ser60Leu)
|
rs147494515
|
0.00006
|
NM_003242.5(TGFBR2):c.-307C>T
|
rs749340193
|
0.00006
|
NM_003242.6(TGFBR2):c.-337T>A
|
rs1038796042
|
0.00006
|
NM_000179.3(MSH6):c.147C>T (p.Ala49=)
|
rs768803986
|
0.00005
|
NM_000179.3(MSH6):c.1746T>G (p.Phe582Leu)
|
rs201518545
|
0.00005
|
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)
|
rs730881793
|
0.00005
|
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val)
|
rs148898662
|
0.00005
|
NM_000179.3(MSH6):c.2239C>T (p.Leu747=)
|
rs63751305
|
0.00005
|
NM_000179.3(MSH6):c.2347T>A (p.Cys783Ser)
|
rs373721483
|
0.00005
|
NM_000179.3(MSH6):c.2562G>T (p.Lys854Asn)
|
rs759048538
|
0.00005
|
NM_000179.3(MSH6):c.3399T>C (p.Thr1133=)
|
rs61748084
|
0.00005
|
NM_000179.3(MSH6):c.3425C>T (p.Thr1142Met)
|
rs267608089
|
0.00005
|
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)
|
rs63749834
|
0.00005
|
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp)
|
rs375459388
|
0.00005
|
NM_000179.3(MSH6):c.3852G>A (p.Thr1284=)
|
rs2229018
|
0.00005
|
NM_000249.4(MLH1):c.1128T>C (p.Asp376=)
|
rs267607824
|
0.00005
|
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)
|
rs63750760
|
0.00005
|
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)
|
rs63750430
|
0.00005
|
NM_000249.4(MLH1):c.1392T>C (p.Pro464=)
|
rs63750201
|
0.00005
|
NM_000249.4(MLH1):c.1489C>T (p.Arg497Trp)
|
rs200830026
|
0.00005
|
NM_000249.4(MLH1):c.1937A>G (p.Tyr646Cys)
|
rs35045067
|
0.00005
|
NM_000249.4(MLH1):c.438A>G (p.Gln146=)
|
rs377279035
|
0.00005
|
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln)
|
rs138705565
|
0.00005
|
NM_000251.3(MSH2):c.1473G>T (p.Lys491Asn)
|
rs1064795039
|
0.00005
|
NM_000251.3(MSH2):c.1774A>G (p.Met592Val)
|
rs371614039
|
0.00005
|
NM_000251.3(MSH2):c.2267C>G (p.Thr756Ser)
|
rs372383829
|
0.00005
|
NM_000251.3(MSH2):c.843A>T (p.Ser281=)
|
rs150197753
|
0.00005
|
NM_000251.3(MSH2):c.885C>G (p.Asp295Glu)
|
rs201334592
|
0.00005
|
NM_000535.7(PMS2):c.-4A>G
|
rs544503598
|
0.00005
|
NM_000535.7(PMS2):c.101G>T (p.Ser34Ile)
|
rs370612538
|
0.00005
|
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly)
|
rs144389038
|
0.00005
|
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser)
|
rs376258383
|
0.00005
|
NM_000535.7(PMS2):c.71A>C (p.His24Pro)
|
rs139233015
|
0.00005
|
NM_000535.7(PMS2):c.738C>G (p.Pro246=)
|
rs202094399
|
0.00005
|
NM_001040108.2(MLH3):c.*772T>A
|
rs182733472
|
0.00005
|
NM_001040108.2(MLH3):c.1569G>A (p.Gln523=)
|
rs552398291
|
0.00005
|
NM_001040108.2(MLH3):c.162G>A (p.Val54=)
|
rs757926156
|
0.00005
|
NM_001040108.2(MLH3):c.1740G>A (p.Glu580=)
|
rs761803406
|
0.00005
|
NM_001040108.2(MLH3):c.3539G>A (p.Arg1180His)
|
rs377022215
|
0.00005
|
NM_001040108.2(MLH3):c.3694C>T (p.Arg1232Cys)
|
rs550698696
|
0.00005
|
NM_001040108.2(MLH3):c.3980T>C (p.Ile1327Thr)
|
rs757266275
|
0.00005
|
NM_001040108.2(MLH3):c.638A>C (p.Gln213Pro)
|
rs370194355
|
0.00005
|
NM_001040108.2(MLH3):c.679A>C (p.Ser227Arg)
|
rs368947441
|
0.00005
|
NM_002354.3(EPCAM):c.232C>G (p.Leu78Val)
|
rs587780763
|
0.00005
|
NM_003242.6(TGFBR2):c.340G>C (p.Glu114Gln)
|
rs771551560
|
0.00005
|
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)
|
rs61756469
|
0.00004
|
NM_000179.3(MSH6):c.1144C>T (p.His382Tyr)
|
rs587779207
|
0.00004
|
NM_000179.3(MSH6):c.1364A>C (p.Asn455Thr)
|
rs200938360
|
0.00004
|
NM_000179.3(MSH6):c.1402C>T (p.Arg468Cys)
|
rs369456858
|
0.00004
|
NM_000179.3(MSH6):c.1661G>A (p.Arg554His)
|
rs730881791
|
0.00004
|
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
|
rs63751450
|
0.00004
|
NM_000179.3(MSH6):c.242C>T (p.Ala81Val)
|
rs587779924
|
0.00004
|
NM_000179.3(MSH6):c.2597A>C (p.Lys866Thr)
|
rs190075874
|
0.00004
|
NM_000179.3(MSH6):c.260+10T>G
|
rs193922342
|
0.00004
|
NM_000179.3(MSH6):c.2904C>G (p.Val968=)
|
rs150683226
|
0.00004
|
NM_000179.3(MSH6):c.3232G>C (p.Val1078Leu)
|
rs587779932
|
0.00004
|
NM_000179.3(MSH6):c.3557-17A>T
|
rs542542093
|
0.00004
|
NM_000179.3(MSH6):c.3557-3A>T
|
rs41295274
|
0.00004
|
NM_000179.3(MSH6):c.364G>A (p.Glu122Lys)
|
rs143036974
|
0.00004
|
NM_000179.3(MSH6):c.3729A>G (p.Thr1243=)
|
rs773807182
|
0.00004
|
NM_000179.3(MSH6):c.3801+5G>A
|
rs201080919
|
0.00004
|
NM_000179.3(MSH6):c.3942A>G (p.Gln1314=)
|
rs768042560
|
0.00004
|
NM_000179.3(MSH6):c.4001+10dup
|
rs730882138
|
0.00004
|
NM_000179.3(MSH6):c.4002-25T>C
|
rs199500983
|
0.00004
|
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)
|
rs564434147
|
0.00004
|
NM_000179.3(MSH6):c.749T>C (p.Val250Ala)
|
rs587781275
|
0.00004
|
NM_000179.3(MSH6):c.972A>C (p.Lys324Asn)
|
rs876658610
|
0.00004
|
NM_000249.4(MLH1):c.1148T>C (p.Met383Thr)
|
rs141344760
|
0.00004
|
NM_000249.4(MLH1):c.1227G>C (p.Gln409His)
|
rs775776362
|
0.00004
|
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)
|
rs373076967
|
0.00004
|
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr)
|
rs377433038
|
0.00004
|
NM_000249.4(MLH1):c.1284T>C (p.Asp428=)
|
rs772555970
|
0.00004
|
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr)
|
rs63751145
|
0.00004
|
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)
|
rs63751630
|
0.00004
|
NM_000249.4(MLH1):c.1628A>G (p.His543Arg)
|
rs730881742
|
0.00004
|
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)
|
rs267607840
|
0.00004
|
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)
|
rs140195825
|
0.00004
|
NM_000249.4(MLH1):c.299G>A (p.Arg100Gln)
|
rs63750266
|
0.00004
|
NM_000249.4(MLH1):c.347C>A (p.Thr116Lys)
|
rs63750465
|
0.00004
|
NM_000249.4(MLH1):c.381-43C>G
|
rs368847278
|
0.00004
|
NM_000249.4(MLH1):c.52C>T (p.Arg18Cys)
|
rs367654552
|
0.00004
|
NM_000249.4(MLH1):c.579A>G (p.Ser193=)
|
rs587781038
|
0.00004
|
NM_000249.4(MLH1):c.794G>A (p.Arg265His)
|
rs63751448
|
0.00004
|
NM_000249.4(MLH1):c.808A>G (p.Thr270Ala)
|
rs371302926
|
0.00004
|
NM_000249.4(MLH1):c.945C>G (p.His315Gln)
|
rs587779959
|
0.00004
|
NM_000249.4(MLH1):c.9C>G (p.Phe3Leu)
|
rs779759678
|
0.00004
|
NM_000251.1(MSH2):c.-225G>C
|
rs138068023
|
0.00004
|
NM_000251.2(MSH2):c.-76G>A
|
rs34355730
|
0.00004
|
NM_000251.3(MSH2):c.1021C>G (p.Leu341Val)
|
rs748115066
|
0.00004
|
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg)
|
rs749660228
|
0.00004
|
NM_000251.3(MSH2):c.1189C>G (p.Gln397Glu)
|
rs63750611
|
0.00004
|
NM_000251.3(MSH2):c.1238A>C (p.Gln413Pro)
|
rs587779962
|
0.00004
|
NM_000251.3(MSH2):c.1530G>C (p.Gln510His)
|
rs587782355
|
0.00004
|
NM_000251.3(MSH2):c.1600C>T (p.Arg534Cys)
|
rs63750029
|
0.00004
|
NM_000251.3(MSH2):c.1601G>A (p.Arg534His)
|
rs587778523
|
0.00004
|
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe)
|
rs730881777
|
0.00004
|
NM_000251.3(MSH2):c.2211-6C>A
|
rs267608003
|
0.00004
|
NM_000251.3(MSH2):c.2516A>G (p.His839Arg)
|
rs63750027
|
0.00004
|
NM_000251.3(MSH2):c.2580G>A (p.Ser860=)
|
rs752428475
|
0.00004
|
NM_000251.3(MSH2):c.287G>A (p.Arg96His)
|
rs63750002
|
0.00004
|
NM_000251.3(MSH2):c.336C>A (p.Ser112=)
|
rs34312619
|
0.00004
|
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)
|
rs587779973
|
0.00004
|
NM_000251.3(MSH2):c.860G>C (p.Gly287Ala)
|
rs587782567
|
0.00004
|
NM_000251.3(MSH2):c.891C>G (p.Ser297Arg)
|
rs551236465
|
0.00004
|
NM_000535.6(PMS2):c.-46T>A
|
rs765248325
|
0.00004
|
NM_000535.7(PMS2):c.*17G>C
|
rs556089649
|
0.00004
|
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)
|
rs745361721
|
0.00004
|
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg)
|
rs536111818
|
0.00004
|
NM_000535.7(PMS2):c.166C>G (p.Leu56Val)
|
rs371011390
|
0.00004
|
NM_000535.7(PMS2):c.178G>A (p.Asp60Asn)
|
rs587782176
|
0.00004
|
NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu)
|
rs199700509
|
0.00004
|
NM_000535.7(PMS2):c.1936A>C (p.Arg646=)
|
rs369582237
|
0.00004
|
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr)
|
rs769554577
|
0.00004
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_000535.7(PMS2):c.2287G>A (p.Glu763Lys)
|
rs587780051
|
0.00004
|
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)
|
rs553286217
|
0.00004
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln)
|
rs63751284
|
0.00004
|
NM_000535.7(PMS2):c.455C>G (p.Pro152Arg)
|
rs876660161
|
0.00004
|
NM_000535.7(PMS2):c.475G>A (p.Val159Met)
|
rs142416537
|
0.00004
|
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser)
|
rs777903002
|
0.00004
|
NM_000535.7(PMS2):c.705+12C>T
|
rs368486366
|
0.00004
|
NM_000535.7(PMS2):c.916G>A (p.Val306Met)
|
rs587780063
|
0.00004
|
NM_000535.7(PMS2):c.961G>A (p.Val321Ile)
|
rs377043696
|
0.00004
|
NM_001040108.2(MLH3):c.-149G>C
|
rs886050783
|
0.00004
|
NM_001040108.2(MLH3):c.1082A>G (p.Asp361Gly)
|
rs749840648
|
0.00004
|
NM_001040108.2(MLH3):c.1388G>A (p.Ser463Asn)
|
rs144313410
|
0.00004
|
NM_001040108.2(MLH3):c.1724A>G (p.His575Arg)
|
rs141572255
|
0.00004
|
NM_001040108.2(MLH3):c.1827A>G (p.Ile609Met)
|
rs374951352
|
0.00004
|
NM_001040108.2(MLH3):c.1925T>C (p.Phe642Ser)
|
rs777245092
|
0.00004
|
NM_001040108.2(MLH3):c.2000G>C (p.Gly667Ala)
|
rs200093225
|
0.00004
|
NM_001040108.2(MLH3):c.2093A>G (p.Gln698Arg)
|
rs148876417
|
0.00004
|
NM_001040108.2(MLH3):c.2126T>C (p.Ile709Thr)
|
rs750178172
|
0.00004
|
NM_001040108.2(MLH3):c.2253A>G (p.Leu751=)
|
rs748465953
|
0.00004
|
NM_001040108.2(MLH3):c.2336C>A (p.Thr779Asn)
|
rs757053892
|
0.00004
|
NM_001040108.2(MLH3):c.2373G>A (p.Leu791=)
|
rs764724825
|
0.00004
|
NM_001040108.2(MLH3):c.2493A>G (p.Pro831=)
|
rs1201029113
|
0.00004
|
NM_001040108.2(MLH3):c.2548C>G (p.Pro850Ala)
|
rs575583330
|
0.00004
|
NM_001040108.2(MLH3):c.2752G>T (p.Asp918Tyr)
|
rs762167939
|
0.00004
|
NM_001040108.2(MLH3):c.2964C>G (p.Ile988Met)
|
rs201936675
|
0.00004
|
NM_001040108.2(MLH3):c.3053G>A (p.Gly1018Glu)
|
rs147325766
|
0.00004
|
NM_001040108.2(MLH3):c.3280+10T>C
|
rs755892150
|
0.00004
|
NM_001040108.2(MLH3):c.3325C>T (p.Pro1109Ser)
|
rs140997957
|
0.00004
|
NM_001040108.2(MLH3):c.3356C>T (p.Thr1119Ile)
|
rs140127407
|
0.00004
|
NM_001040108.2(MLH3):c.3406G>A (p.Glu1136Lys)
|
rs113490514
|
0.00004
|
NM_001040108.2(MLH3):c.3565A>C (p.Met1189Leu)
|
rs557233869
|
0.00004
|
NM_001040108.2(MLH3):c.3675C>T (p.His1225=)
|
rs147335651
|
0.00004
|
NM_001040108.2(MLH3):c.3688C>T (p.Arg1230Cys)
|
rs746431837
|
0.00004
|
NM_001040108.2(MLH3):c.3723C>T (p.Tyr1241=)
|
rs145627040
|
0.00004
|
NM_001040108.2(MLH3):c.3827+19A>T
|
rs1340786781
|
0.00004
|
NM_001040108.2(MLH3):c.4032C>T (p.Gly1344=)
|
rs565238806
|
0.00004
|
NM_001040108.2(MLH3):c.4170A>G (p.Pro1390=)
|
rs192384476
|
0.00004
|
NM_001040108.2(MLH3):c.449A>G (p.Asn150Ser)
|
rs141079562
|
0.00004
|
NM_001040108.2(MLH3):c.598C>T (p.Gln200Ter)
|
rs1039843487
|
0.00004
|
NM_001040108.2(MLH3):c.629G>A (p.Arg210Gln)
|
rs143631202
|
0.00004
|
NM_001040108.2(MLH3):c.884G>A (p.Arg295Gln)
|
rs774323111
|
0.00004
|
NM_001040108.2(MLH3):c.890G>A (p.Arg297Gln)
|
rs374212925
|
0.00004
|
NM_002354.3(EPCAM):c.-79C>T
|
rs886056131
|
0.00004
|
NM_002354.3(EPCAM):c.342C>T (p.Ser114=)
|
rs200495968
|
0.00004
|
NM_002878.4(RAD51D):c.493C>T (p.Arg165Trp)
|
rs544654228
|
0.00004
|
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp)
|
rs761991787
|
0.00004
|
NM_003242.6(TGFBR2):c.116C>A (p.Thr39Asn)
|
rs146277116
|
0.00004
|
NM_003242.6(TGFBR2):c.1316T>C (p.Val439Ala)
|
rs1050833
|
0.00004
|
NM_003242.6(TGFBR2):c.620G>A (p.Arg207Gln)
|
rs371209879
|
0.00004
|
NM_003242.6(TGFBR2):c.938G>A (p.Arg313Gln)
|
rs200361387
|
0.00004
|
NM_003242.6(TGFBR2):c.95-3C>A
|
rs375330013
|
0.00004
|
NM_000179.3(MSH6):c.-2G>T
|
rs374748889
|
0.00003
|
NM_000179.3(MSH6):c.-6G>C
|
rs730881822
|
0.00003
|
NM_000179.3(MSH6):c.-8C>T
|
rs565211544
|
0.00003
|
NM_000179.3(MSH6):c.1120_1122del (p.Lys374del)
|
rs587781660
|
0.00003
|
NM_000179.3(MSH6):c.1167C>T (p.Pro389=)
|
rs1042819
|
0.00003
|
NM_000179.3(MSH6):c.1267C>A (p.Leu423Ile)
|
rs587781657
|
0.00003
|
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)
|
rs63749973
|
0.00003
|
NM_000179.3(MSH6):c.1822A>G (p.Ile608Val)
|
rs201613780
|
0.00003
|
NM_000179.3(MSH6):c.1870G>A (p.Gly624Ser)
|
rs868760377
|
0.00003
|
NM_000179.3(MSH6):c.1915G>A (p.Glu639Lys)
|
rs143517321
|
0.00003
|
NM_000179.3(MSH6):c.2156C>T (p.Thr719Ile)
|
rs373418713
|
0.00003
|
NM_000179.3(MSH6):c.2161A>G (p.Arg721Gly)
|
rs537604099
|
0.00003
|
NM_000179.3(MSH6):c.2319C>T (p.Leu773=)
|
rs63749895
|
0.00003
|
NM_000179.3(MSH6):c.240A>G (p.Val80=)
|
rs864622281
|
0.00003
|
NM_000179.3(MSH6):c.2780T>C (p.Ile927Thr)
|
rs587779926
|
0.00003
|
NM_000179.3(MSH6):c.3026A>T (p.Lys1009Ile)
|
rs587781593
|
0.00003
|
NM_000179.3(MSH6):c.3071G>A (p.Arg1024Gln)
|
rs372705506
|
0.00003
|
NM_000179.3(MSH6):c.3100C>T (p.Arg1034Trp)
|
rs587779930
|
0.00003
|
NM_000179.3(MSH6):c.3284G>A (p.Arg1095His)
|
rs63750253
|
0.00003
|
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=)
|
rs747771350
|
0.00003
|
NM_000179.3(MSH6):c.3543C>G (p.Asp1181Glu)
|
rs267608100
|
0.00003
|
NM_000179.3(MSH6):c.359T>C (p.Ile120Thr)
|
rs775971872
|
0.00003
|
NM_000179.3(MSH6):c.362G>A (p.Arg121His)
|
rs769279475
|
0.00003
|
NM_000179.3(MSH6):c.3787C>T (p.Arg1263Cys)
|
rs367912290
|
0.00003
|
NM_000179.3(MSH6):c.3800T>C (p.Met1267Thr)
|
rs148445930
|
0.00003
|
NM_000179.3(MSH6):c.393A>C (p.Val131=)
|
rs752488540
|
0.00003
|
NM_000179.3(MSH6):c.3968T>C (p.Phe1323Ser)
|
rs1051564593
|
0.00003
|
NM_000179.3(MSH6):c.4002-14T>C
|
rs587781041
|
0.00003
|
NM_000179.3(MSH6):c.4002-20T>G
|
rs370707739
|
0.00003
|
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys)
|
rs730881813
|
0.00003
|
NM_000179.3(MSH6):c.627+9C>T
|
rs373155872
|
0.00003
|
NM_000179.3(MSH6):c.628-12C>T
|
rs752105994
|
0.00003
|
NM_000179.3(MSH6):c.719G>A (p.Arg240Gln)
|
rs542848931
|
0.00003
|
NM_000179.3(MSH6):c.956C>T (p.Thr319Met)
|
rs188252826
|
0.00003
|
NM_000249.4(MLH1):c.1039-33_1039-29del
|
rs148615368
|
0.00003
|
NM_000249.4(MLH1):c.1051G>A (p.Gly351Arg)
|
rs1437454428
|
0.00003
|
NM_000249.4(MLH1):c.116+5G>A
|
rs267607710
|
0.00003
|
NM_000249.4(MLH1):c.1165C>T (p.Arg389Trp)
|
rs61751644
|
0.00003
|
NM_000249.4(MLH1):c.1487C>T (p.Pro496Leu)
|
rs63750226
|
0.00003
|
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn)
|
rs771044689
|
0.00003
|
NM_000249.4(MLH1):c.1730C>T (p.Ser577Leu)
|
rs56185292
|
0.00003
|
NM_000249.4(MLH1):c.1743G>A (p.Pro581=)
|
rs567838745
|
0.00003
|
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)
|
rs63750952
|
0.00003
|
NM_000249.4(MLH1):c.286A>G (p.Thr96Ala)
|
rs770276731
|
0.00003
|
NM_000249.4(MLH1):c.376T>A (p.Tyr126Asn)
|
rs200076893
|
0.00003
|
NM_000249.4(MLH1):c.539T>G (p.Val180Gly)
|
rs63750102
|
0.00003
|
NM_000249.4(MLH1):c.644A>G (p.Asn215Ser)
|
rs267607775
|
0.00003
|
NM_000249.4(MLH1):c.884+15A>G
|
rs372817491
|
0.00003
|
NM_000249.4(MLH1):c.91G>T (p.Ala31Ser)
|
rs749671520
|
0.00003
|
NM_000249.4(MLH1):c.92C>G (p.Ala31Gly)
|
rs730882127
|
0.00003
|
NM_000249.4(MLH1):c.94A>G (p.Ile32Val)
|
rs2020872
|
0.00003
|
NM_000249.4(MLH1):c.991G>A (p.Glu331Lys)
|
rs550914672
|
0.00003
|
NM_000251.3(MSH2):c.1144C>T (p.Arg382Cys)
|
rs752373431
|
0.00003
|
NM_000251.3(MSH2):c.1204C>A (p.Gln402Lys)
|
rs63751412
|
0.00003
|
NM_000251.3(MSH2):c.1331G>T (p.Arg444Leu)
|
rs557339938
|
0.00003
|
NM_000251.3(MSH2):c.1382A>C (p.Asp461Ala)
|
rs730881756
|
0.00003
|
NM_000251.3(MSH2):c.1429A>C (p.Asn477His)
|
rs587781346
|
0.00003
|
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)
|
rs56170584
|
0.00003
|
NM_000251.3(MSH2):c.157G>T (p.Ala53Ser)
|
rs755931648
|
0.00003
|
NM_000251.3(MSH2):c.1724A>G (p.Asp575Gly)
|
rs370330868
|
0.00003
|
NM_000251.3(MSH2):c.1760-16T>G
|
rs768370188
|
0.00003
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)
|
rs759263820
|
0.00003
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile)
|
rs549467183
|
0.00003
|
NM_000251.3(MSH2):c.2006-26dup
|
rs781614743
|
0.00003
|
NM_000251.3(MSH2):c.211+8C>T
|
rs267607916
|
0.00003
|
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr)
|
rs373226409
|
0.00003
|
NM_000251.3(MSH2):c.2205C>T (p.Ile735=)
|
rs533553381
|
0.00003
|
NM_000251.3(MSH2):c.2211-5T>G
|
rs368596736
|
0.00003
|
NM_000251.3(MSH2):c.2458+8C>G
|
rs189025757
|
0.00003
|
NM_000251.3(MSH2):c.2517T>A (p.His839Gln)
|
rs267608016
|
0.00003
|
NM_000251.3(MSH2):c.2556G>C (p.Glu852Asp)
|
rs587781453
|
0.00003
|
NM_000251.3(MSH2):c.2558A>C (p.Glu853Ala)
|
rs63750797
|
0.00003
|
NM_000251.3(MSH2):c.260C>G (p.Ser87Cys)
|
rs587781447
|
0.00003
|
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys)
|
rs587779969
|
0.00003
|
NM_000251.3(MSH2):c.399C>T (p.Asp133=)
|
rs61756462
|
0.00003
|
NM_000251.3(MSH2):c.74G>A (p.Gly25Asp)
|
rs767747378
|
0.00003
|
NM_000251.3(MSH2):c.835C>G (p.Leu279Val)
|
rs375351205
|
0.00003
|
NM_000251.3(MSH2):c.943-25T>C
|
rs775155213
|
0.00003
|
NM_000251.3(MSH2):c.968C>G (p.Ser323Cys)
|
rs63750732
|
0.00003
|
NM_000251.3(MSH2):c.991A>G (p.Asn331Asp)
|
rs267607938
|
0.00003
|
NM_000535.7(PMS2):c.1096G>C (p.Asp366His)
|
rs141769057
|
0.00003
|
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr)
|
rs63750686
|
0.00003
|
NM_000535.7(PMS2):c.1732C>A (p.Arg578Ser)
|
rs63750534
|
0.00003
|
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)
|
rs587780045
|
0.00003
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly)
|
rs587780052
|
0.00003
|
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser)
|
rs864622274
|
0.00003
|
NM_000535.7(PMS2):c.355G>A (p.Asp119Asn)
|
rs587781913
|
0.00003
|
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu)
|
rs761748894
|
0.00003
|
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp)
|
rs573374779
|
0.00003
|
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp)
|
rs876661233
|
0.00003
|
NM_000535.7(PMS2):c.751G>A (p.Val251Met)
|
rs142434011
|
0.00003
|
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp)
|
rs182246929
|
0.00003
|
NM_000535.7(PMS2):c.886C>T (p.Pro296Ser)
|
rs375553553
|
0.00003
|
NM_000535.7(PMS2):c.917T>C (p.Val306Ala)
|
rs786201878
|
0.00003
|
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)
|
rs114185660
|
0.00003
|
NM_001040108.2(MLH3):c.*1990T>A
|
rs886050769
|
0.00003
|
NM_001040108.2(MLH3):c.*2679A>G
|
rs1018604766
|
0.00003
|
NM_001040108.2(MLH3):c.*3105C>G
|
rs543449865
|
0.00003
|
NM_001040108.2(MLH3):c.1017C>T (p.Cys339=)
|
rs368126670
|
0.00003
|
NM_001040108.2(MLH3):c.1156G>A (p.Glu386Lys)
|
rs142081869
|
0.00003
|
NM_001040108.2(MLH3):c.1585A>C (p.Lys529Gln)
|
rs1004546185
|
0.00003
|
NM_001040108.2(MLH3):c.1619A>G (p.Asn540Ser)
|
rs768855148
|
0.00003
|
NM_001040108.2(MLH3):c.1940G>A (p.Arg647His)
|
rs61755653
|
0.00003
|
NM_001040108.2(MLH3):c.2362C>A (p.Pro788Thr)
|
rs758319075
|
0.00003
|
NM_001040108.2(MLH3):c.2684G>A (p.Arg895His)
|
rs186838169
|
0.00003
|
NM_001040108.2(MLH3):c.285G>A (p.Glu95=)
|
rs369067732
|
0.00003
|
NM_001040108.2(MLH3):c.2941G>A (p.Gly981Ser)
|
rs377337763
|
0.00003
|
NM_001040108.2(MLH3):c.3103G>A (p.Glu1035Lys)
|
rs143865811
|
0.00003
|
NM_001040108.2(MLH3):c.3136C>T (p.Arg1046Trp)
|
rs765313787
|
0.00003
|
NM_001040108.2(MLH3):c.3235A>G (p.Thr1079Ala)
|
rs200350079
|
0.00003
|
NM_001040108.2(MLH3):c.3405C>T (p.Ser1135=)
|
rs746155226
|
0.00003
|
NM_001040108.2(MLH3):c.3676G>A (p.Ala1226Thr)
|
rs747817741
|
0.00003
|
NM_001040108.2(MLH3):c.4026C>T (p.Thr1342=)
|
rs770765370
|
0.00003
|
NM_001040108.2(MLH3):c.405del (p.Asp136fs)
|
rs1892496921
|
0.00003
|
NM_001040108.2(MLH3):c.4097T>C (p.Ile1366Thr)
|
rs61752724
|
0.00003
|
NM_001040108.2(MLH3):c.4155C>T (p.Ser1385=)
|
rs766537456
|
0.00003
|
NM_001040108.2(MLH3):c.4186G>T (p.Gly1396Trp)
|
rs368876363
|
0.00003
|
NM_001040108.2(MLH3):c.443T>C (p.Val148Ala)
|
rs1484161045
|
0.00003
|
NM_001040108.2(MLH3):c.471A>G (p.Val157=)
|
rs762169466
|
0.00003
|
NM_001040108.2(MLH3):c.806A>G (p.Asp269Gly)
|
rs761744465
|
0.00003
|
NM_001040108.2(MLH3):c.816A>G (p.Leu272=)
|
rs147608238
|
0.00003
|
NM_001040108.2(MLH3):c.958T>G (p.Cys320Gly)
|
rs1334932761
|
0.00003
|
NM_002354.3(EPCAM):c.556-14A>G
|
rs376155665
|
0.00003
|
NM_002354.3(EPCAM):c.574A>T (p.Thr192Ser)
|
rs587780769
|
0.00003
|
NM_002354.3(EPCAM):c.658-6A>G
|
rs768723264
|
0.00003
|
NM_003242.6(TGFBR2):c.*328A>C
|
rs886058309
|
0.00003
|
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)
|
rs780542125
|
0.00003
|
NM_022055.2(KCNK12):c.*8525G>C
|
rs758564047
|
0.00003
|
NM_000179.3(MSH6):c.1082G>A (p.Arg361His)
|
rs63750440
|
0.00002
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000179.3(MSH6):c.1168del (p.Asp390fs)
|
rs753796271
|
0.00002
|
NM_000179.3(MSH6):c.1501C>T (p.His501Tyr)
|
rs779411998
|
0.00002
|
NM_000179.3(MSH6):c.1668T>C (p.Tyr556=)
|
rs730882130
|
0.00002
|
NM_000179.3(MSH6):c.1732C>T (p.His578Tyr)
|
rs768854566
|
0.00002
|
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)
|
rs41295270
|
0.00002
|
NM_000179.3(MSH6):c.204G>A (p.Lys68=)
|
rs864622565
|
0.00002
|
NM_000179.3(MSH6):c.2092C>G (p.Gln698Glu)
|
rs63750832
|
0.00002
|
NM_000179.3(MSH6):c.2241G>A (p.Leu747=)
|
rs377722465
|
0.00002
|
NM_000179.3(MSH6):c.2315G>A (p.Arg772Gln)
|
rs63750725
|
0.00002
|
NM_000179.3(MSH6):c.2508C>T (p.Asn836=)
|
rs758170249
|
0.00002
|
NM_000179.3(MSH6):c.2511C>G (p.His837Gln)
|
rs587779925
|
0.00002
|
NM_000179.3(MSH6):c.257C>T (p.Thr86Ile)
|
rs768444916
|
0.00002
|
NM_000179.3(MSH6):c.2624T>C (p.Met875Thr)
|
rs774774596
|
0.00002
|
NM_000179.3(MSH6):c.2664G>C (p.Lys888Asn)
|
rs730881798
|
0.00002
|
NM_000179.3(MSH6):c.2701C>A (p.Arg901Ser)
|
rs772514245
|
0.00002
|
NM_000179.3(MSH6):c.2857G>A (p.Glu953Lys)
|
rs753034685
|
0.00002
|
NM_000179.3(MSH6):c.2950A>C (p.Asn984His)
|
rs146359682
|
0.00002
|
NM_000179.3(MSH6):c.3163G>A (p.Ala1055Thr)
|
rs587779254
|
0.00002
|
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
NM_000179.3(MSH6):c.3205G>C (p.Gly1069Arg)
|
rs764113705
|
0.00002
|
NM_000179.3(MSH6):c.321T>C (p.Pro107=)
|
rs730881823
|
0.00002
|
NM_000179.3(MSH6):c.3220A>T (p.Met1074Leu)
|
rs730881804
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000179.3(MSH6):c.3244C>T (p.Pro1082Ser)
|
rs186240214
|
0.00002
|
NM_000179.3(MSH6):c.3557G>A (p.Gly1186Asp)
|
rs587781690
|
0.00002
|
NM_000179.3(MSH6):c.3600A>G (p.Ile1200Met)
|
rs587781482
|
0.00002
|
NM_000179.3(MSH6):c.3642A>G (p.Glu1214=)
|
rs765247025
|
0.00002
|
NM_000179.3(MSH6):c.3740C>G (p.Thr1247Ser)
|
rs786204182
|
0.00002
|
NM_000179.3(MSH6):c.3801+14G>T
|
rs755626529
|
0.00002
|
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)
|
rs63750836
|
0.00002
|
NM_000179.3(MSH6):c.3972G>C (p.Glu1324Asp)
|
rs587779938
|
0.00002
|
NM_000179.3(MSH6):c.4000_4001+17dup
|
rs1064794929
|
0.00002
|
NM_000179.3(MSH6):c.4002-28del
|
rs1572749250
|
0.00002
|
NM_000179.3(MSH6):c.4005A>C (p.Glu1335Asp)
|
rs786204130
|
0.00002
|
NM_000179.3(MSH6):c.4028C>G (p.Ser1343Ter)
|
rs863225420
|
0.00002
|
NM_000179.3(MSH6):c.4062G>T (p.Leu1354=)
|
rs863224335
|
0.00002
|
NM_000179.3(MSH6):c.728G>A (p.Arg243His)
|
rs370157832
|
0.00002
|
NM_000179.3(MSH6):c.751A>G (p.Ile251Val)
|
rs554884560
|
0.00002
|
NM_000179.3(MSH6):c.94G>T (p.Gly32Cys)
|
rs776859837
|
0.00002
|
NM_000179.3(MSH6):c.957G>C (p.Thr319=)
|
rs375210430
|
0.00002
|
NM_000249.4(MLH1):c.1256T>C (p.Ile419Thr)
|
rs377484262
|
0.00002
|
NM_000249.4(MLH1):c.1564C>T (p.Arg522Trp)
|
rs63751703
|
0.00002
|
NM_000249.4(MLH1):c.226G>A (p.Val76Ile)
|
rs878853788
|
0.00002
|
NM_000249.4(MLH1):c.303T>G (p.Gly101=)
|
rs4647220
|
0.00002
|
NM_000249.4(MLH1):c.482C>T (p.Thr161Met)
|
rs763992299
|
0.00002
|
NM_000249.4(MLH1):c.530T>C (p.Leu177Ser)
|
rs758040210
|
0.00002
|
NM_000249.4(MLH1):c.595G>C (p.Glu199Gln)
|
rs63749887
|
0.00002
|
NM_000249.4(MLH1):c.668C>T (p.Ala223Val)
|
rs756045117
|
0.00002
|
NM_000249.4(MLH1):c.776T>C (p.Leu259Ser)
|
rs56250509
|
0.00002
|
NM_000249.4(MLH1):c.790C>T (p.His264Tyr)
|
rs63751597
|
0.00002
|
NM_000249.4(MLH1):c.925C>T (p.Pro309Ser)
|
rs267607808
|
0.00002
|
NM_000249.4(MLH1):c.928A>G (p.Thr310Ala)
|
rs779581111
|
0.00002
|
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln)
|
rs63750268
|
0.00002
|
NM_000251.3(MSH2):c.1032G>C (p.Gln344His)
|
rs375799148
|
0.00002
|
NM_000251.3(MSH2):c.1070A>C (p.Glu357Ala)
|
rs150503781
|
0.00002
|
NM_000251.3(MSH2):c.116G>C (p.Arg39Pro)
|
rs587782759
|
0.00002
|
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)
|
rs374135434
|
0.00002
|
NM_000251.3(MSH2):c.1276+7A>G
|
rs748554540
|
0.00002
|
NM_000251.3(MSH2):c.1510+11G>C
|
rs370675562
|
0.00002
|
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)
|
rs63750328
|
0.00002
|
NM_000251.3(MSH2):c.1817T>A (p.Val606Asp)
|
rs376044376
|
0.00002
|
NM_000251.3(MSH2):c.1854A>G (p.Pro618=)
|
rs786203744
|
0.00002
|
NM_000251.3(MSH2):c.1937A>C (p.Asp646Ala)
|
rs41295290
|
0.00002
|
NM_000251.3(MSH2):c.1943T>A (p.Ile648Asn)
|
rs763100088
|
0.00002
|
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)
|
rs41294982
|
0.00002
|
NM_000251.3(MSH2):c.2061C>G (p.Leu687=)
|
rs63750032
|
0.00002
|
NM_000251.3(MSH2):c.2178G>C (p.Met726Ile)
|
rs587782396
|
0.00002
|
NM_000251.3(MSH2):c.2362A>C (p.Thr788Pro)
|
rs774440277
|
0.00002
|
NM_000251.3(MSH2):c.2379G>T (p.Gln793His)
|
rs767520406
|
0.00002
|
NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile)
|
rs267608015
|
0.00002
|
NM_000251.3(MSH2):c.2650A>T (p.Ile884Phe)
|
rs774732579
|
0.00002
|
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr)
|
rs587780687
|
0.00002
|
NM_000251.3(MSH2):c.2777T>A (p.Ile926Asn)
|
rs199747712
|
0.00002
|
NM_000251.3(MSH2):c.2786G>A (p.Arg929Gln)
|
rs587779967
|
0.00002
|
NM_000251.3(MSH2):c.304G>A (p.Val102Ile)
|
rs193922373
|
0.00002
|
NM_000251.3(MSH2):c.366+24A>G
|
rs200890440
|
0.00002
|
NM_000251.3(MSH2):c.42G>A (p.Ala14=)
|
rs374396150
|
0.00002
|
NM_000251.3(MSH2):c.438T>C (p.Gly146=)
|
rs587779161
|
0.00002
|
NM_000251.3(MSH2):c.581T>C (p.Ile194Thr)
|
rs730881778
|
0.00002
|
NM_000251.3(MSH2):c.762T>C (p.Asn254=)
|
rs587779180
|
0.00002
|
NM_000251.3(MSH2):c.792+5A>G
|
rs267607935
|
0.00002
|
NM_000251.3(MSH2):c.808C>G (p.Leu270Val)
|
rs758403441
|
0.00002
|
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)
|
rs750746034
|
0.00002
|
NM_000251.3(MSH2):c.855C>G (p.Asn285Lys)
|
rs759242666
|
0.00002
|
NM_000251.3(MSH2):c.894G>C (p.Gln298His)
|
rs587781397
|
0.00002
|
NM_000251.3(MSH2):c.938T>C (p.Phe313Ser)
|
rs780656204
|
0.00002
|
NM_000251.3(MSH2):c.964G>A (p.Gly322Ser)
|
rs773301485
|
0.00002
|
NM_000535.7(PMS2):c.1048C>T (p.Leu350Phe)
|
rs587782875
|
0.00002
|
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)
|
rs567102013
|
0.00002
|
NM_000535.7(PMS2):c.113C>T (p.Ala38Val)
|
rs148270248
|
0.00002
|
NM_000535.7(PMS2):c.1170G>A (p.Ala390=)
|
rs755578413
|
0.00002
|
NM_000535.7(PMS2):c.133A>G (p.Asn45Asp)
|
rs1402531091
|
0.00002
|
NM_000535.7(PMS2):c.1372A>C (p.Thr458Pro)
|
rs779306532
|
0.00002
|
NM_000535.7(PMS2):c.139C>G (p.Leu47Val)
|
rs766203500
|
0.00002
|
NM_000535.7(PMS2):c.1435C>G (p.His479Asp)
|
rs376344586
|
0.00002
|
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)
|
rs63750451
|
0.00002
|
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys)
|
rs778531080
|
0.00002
|
NM_000535.7(PMS2):c.2174+6T>C
|
rs587780050
|
0.00002
|
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val)
|
rs150630090
|
0.00002
|
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr)
|
rs587782671
|
0.00002
|
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr)
|
rs386833410
|
0.00002
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
NM_000535.7(PMS2):c.2497C>T (p.His833Tyr)
|
rs777470381
|
0.00002
|
NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr)
|
rs574371474
|
0.00002
|
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser)
|
rs767775907
|
0.00002
|
NM_000535.7(PMS2):c.378C>T (p.His126=)
|
rs768488890
|
0.00002
|
NM_000535.7(PMS2):c.412G>C (p.Asp138His)
|
rs863224678
|
0.00002
|
NM_000535.7(PMS2):c.598G>A (p.Val200Ile)
|
rs587778620
|
0.00002
|
NM_000535.7(PMS2):c.705+3A>G
|
rs764334813
|
0.00002
|
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser)
|
rs587782633
|
0.00002
|
NM_000535.7(PMS2):c.868T>G (p.Phe290Val)
|
rs587782833
|
0.00002
|
NM_000535.7(PMS2):c.901A>G (p.Lys301Glu)
|
rs757409701
|
0.00002
|
NM_000535.7(PMS2):c.964G>A (p.Val322Ile)
|
rs587782208
|
0.00002
|
NM_000535.7(PMS2):c.972C>A (p.Asn324Lys)
|
rs182085259
|
0.00002
|
NM_000535.7(PMS2):c.988+10A>G
|
rs372554253
|
0.00002
|
NM_000535.7(PMS2):c.989A>G (p.Glu330Gly)
|
rs761913816
|
0.00002
|
NM_001040108.2(MLH3):c.*1312G>A
|
rs559234350
|
0.00002
|
NM_001040108.2(MLH3):c.1004C>T (p.Thr335Ile)
|
rs762823997
|
0.00002
|
NM_001040108.2(MLH3):c.1109G>C (p.Gly370Ala)
|
rs575329147
|
0.00002
|
NM_001040108.2(MLH3):c.1142G>A (p.Arg381His)
|
rs751375245
|
0.00002
|
NM_001040108.2(MLH3):c.124G>A (p.Ala42Thr)
|
rs748676497
|
0.00002
|
NM_001040108.2(MLH3):c.1739A>G (p.Glu580Gly)
|
rs768009140
|
0.00002
|
NM_001040108.2(MLH3):c.1835T>C (p.Val612Ala)
|
rs767938226
|
0.00002
|
NM_001040108.2(MLH3):c.184G>A (p.Gly62Arg)
|
rs761501352
|
0.00002
|
NM_001040108.2(MLH3):c.1943A>G (p.His648Arg)
|
rs746239378
|
0.00002
|
NM_001040108.2(MLH3):c.2079G>A (p.Met693Ile)
|
rs779177358
|
0.00002
|
NM_001040108.2(MLH3):c.2166C>T (p.His722=)
|
rs186533894
|
0.00002
|
NM_001040108.2(MLH3):c.2328T>C (p.Asn776=)
|
rs141970415
|
0.00002
|
NM_001040108.2(MLH3):c.2330G>A (p.Gly777Glu)
|
rs1027700572
|
0.00002
|
NM_001040108.2(MLH3):c.2562G>A (p.Lys854=)
|
rs778046851
|
0.00002
|
NM_001040108.2(MLH3):c.2568A>C (p.Leu856Phe)
|
rs191623874
|
0.00002
|
NM_001040108.2(MLH3):c.278G>A (p.Arg93Gln)
|
rs781779034
|
0.00002
|
NM_001040108.2(MLH3):c.2819C>T (p.Ser940Phe)
|
rs746725349
|
0.00002
|
NM_001040108.2(MLH3):c.2932A>G (p.Lys978Glu)
|
rs201276317
|
0.00002
|
NM_001040108.2(MLH3):c.3015A>G (p.Leu1005=)
|
rs765140681
|
0.00002
|
NM_001040108.2(MLH3):c.3020A>G (p.Asn1007Ser)
|
rs776639203
|
0.00002
|
NM_001040108.2(MLH3):c.3075A>G (p.Glu1025=)
|
rs746151819
|
0.00002
|
NM_001040108.2(MLH3):c.3117G>A (p.Thr1039=)
|
rs752980464
|
0.00002
|
NM_001040108.2(MLH3):c.3160A>G (p.Arg1054Gly)
|
rs890485767
|
0.00002
|
NM_001040108.2(MLH3):c.3241G>C (p.Asp1081His)
|
rs778369841
|
0.00002
|
NM_001040108.2(MLH3):c.3281-8A>G
|
rs376532114
|
0.00002
|
NM_001040108.2(MLH3):c.3313G>A (p.Asp1105Asn)
|
rs138589933
|
0.00002
|
NM_001040108.2(MLH3):c.338A>G (p.Lys113Arg)
|
rs755961343
|
0.00002
|
NM_001040108.2(MLH3):c.3568C>A (p.Gln1190Lys)
|
rs779651509
|
0.00002
|
NM_001040108.2(MLH3):c.3724G>A (p.Glu1242Lys)
|
rs116061019
|
0.00002
|
NM_001040108.2(MLH3):c.3887A>G (p.Asp1296Gly)
|
rs373332183
|
0.00002
|
NM_001040108.2(MLH3):c.3941A>G (p.Asn1314Ser)
|
rs200444835
|
0.00002
|
NM_001040108.2(MLH3):c.4135C>T (p.Arg1379Cys)
|
rs376224686
|
0.00002
|
NM_001040108.2(MLH3):c.4136G>A (p.Arg1379His)
|
rs199974481
|
0.00002
|
NM_001040108.2(MLH3):c.4206G>A (p.Pro1402=)
|
rs772429784
|
0.00002
|
NM_001040108.2(MLH3):c.4234G>C (p.Glu1412Gln)
|
rs376301349
|
0.00002
|
NM_001040108.2(MLH3):c.4289G>A (p.Arg1430His)
|
rs760305520
|
0.00002
|
NM_001040108.2(MLH3):c.531T>C (p.Ala177=)
|
rs1239346046
|
0.00002
|
NM_001040108.2(MLH3):c.628C>T (p.Arg210Ter)
|
rs770668994
|
0.00002
|
NM_001040108.2(MLH3):c.70C>G (p.Gln24Glu)
|
rs28937870
|
0.00002
|
NM_001040108.2(MLH3):c.808T>G (p.Phe270Val)
|
rs931639997
|
0.00002
|
NM_001040108.2(MLH3):c.861T>C (p.Ser287=)
|
rs201745687
|
0.00002
|
NM_001040108.2(MLH3):c.867A>G (p.Gln289=)
|
rs773294144
|
0.00002
|
NM_001040108.2(MLH3):c.962T>C (p.Met321Thr)
|
rs1004768761
|
0.00002
|
NM_002354.3(EPCAM):c.147T>C (p.Thr49=)
|
rs190508047
|
0.00002
|
NM_002354.3(EPCAM):c.466C>T (p.Pro156Ser)
|
rs587780766
|
0.00002
|
NM_003242.6(TGFBR2):c.927G>A (p.Thr309=)
|
rs756625146
|
0.00002
|
NM_000179.3(MSH6):c.*11T>C
|
rs757708396
|
0.00001
|
NM_000179.3(MSH6):c.*1A>G
|
rs587781604
|
0.00001
|
NM_000179.3(MSH6):c.1061G>T (p.Gly354Val)
|
rs730881788
|
0.00001
|
NM_000179.3(MSH6):c.1097A>G (p.Tyr366Cys)
|
rs1482767334
|
0.00001
|
NM_000179.3(MSH6):c.1106C>T (p.Thr369Ile)
|
rs375974046
|
0.00001
|
NM_000179.3(MSH6):c.1127A>G (p.Glu376Gly)
|
rs764150912
|
0.00001
|
NM_000179.3(MSH6):c.1146C>G (p.His382Gln)
|
rs1572721856
|
0.00001
|
NM_000179.3(MSH6):c.1168G>A (p.Asp390Asn)
|
rs147737737
|
0.00001
|
NM_000179.3(MSH6):c.1170T>C (p.Asp390=)
|
rs55882234
|
0.00001
|
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)
|
rs63750065
|
0.00001
|
NM_000179.3(MSH6):c.1198G>T (p.Glu400Ter)
|
rs1396658541
|
0.00001
|
NM_000179.3(MSH6):c.1209C>G (p.Leu403=)
|
rs748603803
|
0.00001
|
NM_000179.3(MSH6):c.1339C>T (p.Leu447=)
|
rs369709529
|
0.00001
|
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)
|
rs63750741
|
0.00001
|
NM_000179.3(MSH6):c.136G>A (p.Gly46Arg)
|
rs863224616
|
0.00001
|
NM_000179.3(MSH6):c.1403G>A (p.Arg468His)
|
rs41295268
|
0.00001
|
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)
|
rs63750909
|
0.00001
|
NM_000179.3(MSH6):c.1487G>A (p.Cys496Tyr)
|
rs764593111
|
0.00001
|
NM_000179.3(MSH6):c.148T>C (p.Trp50Arg)
|
rs374597395
|
0.00001
|
NM_000179.3(MSH6):c.1565A>G (p.Gln522Arg)
|
rs63751009
|
0.00001
|
NM_000179.3(MSH6):c.1599G>C (p.Glu533Asp)
|
rs373726731
|
0.00001
|
NM_000179.3(MSH6):c.1612dup (p.Tyr538fs)
|
rs1230092559
|
0.00001
|
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala)
|
rs63751098
|
0.00001
|
NM_000179.3(MSH6):c.1623C>T (p.Ser541=)
|
rs777678406
|
0.00001
|
NM_000179.3(MSH6):c.1633A>G (p.Lys545Glu)
|
rs1064793403
|
0.00001
|
NM_000179.3(MSH6):c.1652G>A (p.Gly551Asp)
|
rs587779917
|
0.00001
|
NM_000179.3(MSH6):c.1677C>T (p.Cys559=)
|
rs63749893
|
0.00001
|
NM_000179.3(MSH6):c.1740G>A (p.Ser580=)
|
rs762089407
|
0.00001
|
NM_000179.3(MSH6):c.1776A>T (p.Val592=)
|
rs56132616
|
0.00001
|
NM_000179.3(MSH6):c.1809G>A (p.Lys603=)
|
rs876660790
|
0.00001
|
NM_000179.3(MSH6):c.1858G>A (p.Gly620Ser)
|
rs876661043
|
0.00001
|
NM_000179.3(MSH6):c.188C>G (p.Ser63Cys)
|
rs587779920
|
0.00001
|
NM_000179.3(MSH6):c.1894A>G (p.Lys632Glu)
|
rs755847154
|
0.00001
|
NM_000179.3(MSH6):c.194C>T (p.Ser65Leu)
|
rs41294984
|
0.00001
|
NM_000179.3(MSH6):c.1995G>C (p.Glu665Asp)
|
rs587778532
|
0.00001
|
NM_000179.3(MSH6):c.1999G>C (p.Asp667His)
|
rs151086192
|
0.00001
|
NM_000179.3(MSH6):c.2001T>A (p.Asp667Glu)
|
rs1361745058
|
0.00001
|
NM_000179.3(MSH6):c.2025G>C (p.Glu675Asp)
|
rs587779223
|
0.00001
|
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg)
|
rs143643688
|
0.00001
|
NM_000179.3(MSH6):c.2035T>C (p.Leu679=)
|
rs757741943
|
0.00001
|
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)
|
rs587779227
|
0.00001
|
NM_000179.3(MSH6):c.2103A>G (p.Leu701=)
|
rs764244124
|
0.00001
|
NM_000179.3(MSH6):c.2107A>G (p.Met703Val)
|
rs751867550
|
0.00001
|
NM_000179.3(MSH6):c.2147C>T (p.Thr716Ile)
|
rs587782805
|
0.00001
|
NM_000179.3(MSH6):c.2154C>T (p.Ser718=)
|
rs771662801
|
0.00001
|
NM_000179.3(MSH6):c.2175C>G (p.Ile725Met)
|
rs63750304
|
0.00001
|
NM_000179.3(MSH6):c.2177T>A (p.Phe726Tyr)
|
rs574358605
|
0.00001
|
NM_000179.3(MSH6):c.220G>T (p.Gly74Ter)
|
rs1553408388
|
0.00001
|
NM_000179.3(MSH6):c.2210C>T (p.Ala737Val)
|
rs869312798
|
0.00001
|
NM_000179.3(MSH6):c.2249C>A (p.Thr750Lys)
|
rs730881817
|
0.00001
|
NM_000179.3(MSH6):c.2282G>C (p.Arg761Thr)
|
rs587779233
|
0.00001
|
NM_000179.3(MSH6):c.2291C>A (p.Thr764Asn)
|
rs561198849
|
0.00001
|
NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser)
|
rs587781462
|
0.00001
|
NM_000179.3(MSH6):c.2320C>G (p.Leu774Val)
|
rs864622324
|
0.00001
|
NM_000179.3(MSH6):c.233G>A (p.Arg78Lys)
|
rs864622425
|
0.00001
|
NM_000179.3(MSH6):c.2356T>C (p.Tyr786His)
|
rs773193199
|
0.00001
|
NM_000179.3(MSH6):c.2385A>G (p.Ile795Met)
|
rs1558665293
|
0.00001
|
NM_000179.3(MSH6):c.2400T>C (p.Val800=)
|
rs267608071
|
0.00001
|
NM_000179.3(MSH6):c.2410A>G (p.Lys804Glu)
|
rs1064793552
|
0.00001
|
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys)
|
rs587779923
|
0.00001
|
NM_000179.3(MSH6):c.241G>A (p.Ala81Thr)
|
rs587779239
|
0.00001
|
NM_000179.3(MSH6):c.2504del (p.Gln835fs)
|
rs1572727440
|
0.00001
|
NM_000179.3(MSH6):c.2515G>C (p.Asp839His)
|
rs1553413868
|
0.00001
|
NM_000179.3(MSH6):c.2600T>G (p.Val867Gly)
|
rs139598980
|
0.00001
|
NM_000179.3(MSH6):c.261-1G>C
|
rs863225402
|
0.00001
|
NM_000179.3(MSH6):c.2629G>A (p.Glu877Lys)
|
rs730881797
|
0.00001
|
NM_000179.3(MSH6):c.2640_2641insAAA (p.Asp880_Gly881insLys)
|
rs1252374906
|
0.00001
|
NM_000179.3(MSH6):c.2641G>A (p.Gly881Ser)
|
rs998186339
|
0.00001
|
NM_000179.3(MSH6):c.2661T>G (p.Leu887=)
|
rs267608069
|
0.00001
|
NM_000179.3(MSH6):c.267C>G (p.Asp89Glu)
|
rs762818044
|
0.00001
|
NM_000179.3(MSH6):c.2693C>G (p.Pro898Arg)
|
rs876661281
|
0.00001
|
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)
|
rs63751017
|
0.00001
|
NM_000179.3(MSH6):c.2765G>A (p.Arg922Gln)
|
rs752839086
|
0.00001
|
NM_000179.3(MSH6):c.2779dup (p.Ile927fs)
|
rs587782277
|
0.00001
|
NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr)
|
rs143520357
|
0.00001
|
NM_000179.3(MSH6):c.2850C>T (p.Ser950=)
|
rs571394629
|
0.00001
|
NM_000179.3(MSH6):c.2876G>A (p.Arg959His)
|
rs757653982
|
0.00001
|
NM_000179.3(MSH6):c.2940A>G (p.Glu980=)
|
rs730881818
|
0.00001
|
NM_000179.3(MSH6):c.2949G>C (p.Glu983Asp)
|
rs780485157
|
0.00001
|
NM_000179.3(MSH6):c.2951A>C (p.Asn984Thr)
|
rs587779927
|
0.00001
|
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala)
|
rs746631156
|
0.00001
|
NM_000179.3(MSH6):c.2960C>T (p.Thr987Ile)
|
rs587779928
|
0.00001
|
NM_000179.3(MSH6):c.2982C>T (p.Tyr994=)
|
rs367758473
|
0.00001
|
NM_000179.3(MSH6):c.2992T>A (p.Ser998Thr)
|
rs730881800
|
0.00001
|
NM_000179.3(MSH6):c.3014G>A (p.Arg1005Gln)
|
rs587782324
|
0.00001
|
NM_000179.3(MSH6):c.3084A>T (p.Ser1028=)
|
rs786201843
|
0.00001
|
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)
|
rs63749999
|
0.00001
|
NM_000179.3(MSH6):c.3113A>G (p.Tyr1038Cys)
|
rs773357672
|
0.00001
|
NM_000179.3(MSH6):c.3155A>G (p.Glu1052Gly)
|
rs587781568
|
0.00001
|
NM_000179.3(MSH6):c.3181C>G (p.Leu1061Val)
|
rs1553331250
|
0.00001
|
NM_000179.3(MSH6):c.3198T>C (p.Tyr1066=)
|
rs199643502
|
0.00001
|
NM_000179.3(MSH6):c.3227G>A (p.Arg1076His)
|
rs779617676
|
0.00001
|
NM_000179.3(MSH6):c.3233T>C (p.Val1078Ala)
|
rs376452612
|
0.00001
|
NM_000179.3(MSH6):c.3255C>G (p.Thr1085=)
|
rs371568610
|
0.00001
|
NM_000179.3(MSH6):c.3300G>A (p.Thr1100=)
|
rs540252208
|
0.00001
|
NM_000179.3(MSH6):c.3312T>A (p.Phe1104Leu)
|
rs747441460
|
0.00001
|
NM_000179.3(MSH6):c.3334G>A (p.Asp1112Asn)
|
rs773955368
|
0.00001
|
NM_000179.3(MSH6):c.333C>T (p.Tyr111=)
|
rs786202772
|
0.00001
|
NM_000179.3(MSH6):c.3438+17G>C
|
rs759737239
|
0.00001
|
NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly)
|
rs587782625
|
0.00001
|
NM_000179.3(MSH6):c.3487G>T (p.Glu1163Ter)
|
rs587779267
|
0.00001
|
NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3529C>G (p.Leu1177Val)
|
rs748398941
|
0.00001
|
NM_000179.3(MSH6):c.3563G>A (p.Ser1188Asn)
|
rs587779272
|
0.00001
|
NM_000179.3(MSH6):c.3586G>C (p.Glu1196Gln)
|
rs75095286
|
0.00001
|
NM_000179.3(MSH6):c.3598A>G (p.Ile1200Val)
|
rs781627838
|
0.00001
|
NM_000179.3(MSH6):c.3604A>G (p.Met1202Val)
|
rs369778514
|
0.00001
|
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr)
|
rs587779273
|
0.00001
|
NM_000179.3(MSH6):c.3607C>A (p.His1203Asn)
|
rs876660882
|
0.00001
|
NM_000179.3(MSH6):c.361C>T (p.Arg121Cys)
|
rs763593669
|
0.00001
|
NM_000179.3(MSH6):c.363C>T (p.Arg121=)
|
rs587779276
|
0.00001
|
NM_000179.3(MSH6):c.3660_3663dup (p.Phe1222fs)
|
rs752404604
|
0.00001
|
NM_000179.3(MSH6):c.3679A>T (p.Ile1227Leu)
|
rs587779282
|
0.00001
|
NM_000179.3(MSH6):c.3686A>G (p.Asn1229Ser)
|
rs730881807
|
0.00001
|
NM_000179.3(MSH6):c.3742C>T (p.His1248Tyr)
|
rs63750882
|
0.00001
|
NM_000179.3(MSH6):c.3801+1G>T
|
rs876660943
|
0.00001
|
NM_000179.3(MSH6):c.3841G>C (p.Glu1281Gln)
|
rs876659115
|
0.00001
|
NM_000179.3(MSH6):c.3847A>G (p.Ile1283Val)
|
rs144714869
|
0.00001
|
NM_000179.3(MSH6):c.3928G>A (p.Glu1310Lys)
|
rs1194990135
|
0.00001
|
NM_000179.3(MSH6):c.3936T>C (p.Val1312=)
|
rs61753796
|
0.00001
|
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)
|
rs63750767
|
0.00001
|
NM_000179.3(MSH6):c.3949C>G (p.His1317Asp)
|
rs759092293
|
0.00001
|
NM_000179.3(MSH6):c.4002-4T>C
|
rs370428032
|
0.00001
|
NM_000179.3(MSH6):c.4039G>C (p.Ala1347Pro)
|
rs730881809
|
0.00001
|
NM_000179.3(MSH6):c.4043A>C (p.Glu1348Ala)
|
rs1449733937
|
0.00001
|
NM_000179.3(MSH6):c.4068G>C (p.Leu1356Phe)
|
rs192740549
|
0.00001
|
NM_000179.3(MSH6):c.44C>T (p.Pro15Leu)
|
rs869312800
|
0.00001
|
NM_000179.3(MSH6):c.458-13C>G
|
rs1057522695
|
0.00001
|
NM_000179.3(MSH6):c.458-17A>G
|
rs554847828
|
0.00001
|
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)
|
rs63749873
|
0.00001
|
NM_000179.3(MSH6):c.503C>G (p.Ala168Gly)
|
rs774162322
|
0.00001
|
NM_000179.3(MSH6):c.521G>A (p.Arg174Lys)
|
rs863224629
|
0.00001
|
NM_000179.3(MSH6):c.533G>A (p.Arg178His)
|
rs786204186
|
0.00001
|
NM_000179.3(MSH6):c.628-2A>G
|
rs1114167725
|
0.00001
|
NM_000179.3(MSH6):c.637A>C (p.Thr213Pro)
|
rs876659071
|
0.00001
|
NM_000179.3(MSH6):c.651dup (p.Lys218Ter)
|
rs63750955
|
0.00001
|
NM_000179.3(MSH6):c.67G>C (p.Ala23Pro)
|
rs730881810
|
0.00001
|
NM_000179.3(MSH6):c.713C>A (p.Ser238Tyr)
|
rs587782510
|
0.00001
|
NM_000179.3(MSH6):c.727C>T (p.Arg243Cys)
|
rs377216828
|
0.00001
|
NM_000179.3(MSH6):c.742del (p.Arg248fs)
|
rs587781691
|
0.00001
|
NM_000179.3(MSH6):c.87C>G (p.Arg29=)
|
rs778354962
|
0.00001
|
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)
|
rs146816935
|
0.00001
|
NM_000179.3(MSH6):c.905G>A (p.Arg302Lys)
|
rs587781510
|
0.00001
|
NM_000179.3(MSH6):c.910G>A (p.Val304Met)
|
rs876661207
|
0.00001
|
NM_000179.3(MSH6):c.941G>A (p.Ser314Asn)
|
rs760100983
|
0.00001
|
NM_000179.3(MSH6):c.980C>G (p.Thr327Ser)
|
rs369568820
|
0.00001
|
NM_000179.3(MSH6):c.997A>G (p.Thr333Ala)
|
rs886056143
|
0.00001
|
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile)
|
rs587781983
|
0.00001
|
NM_000249.3(MLH1):c.-114T>C
|
rs886058380
|
0.00001
|
NM_000249.4(MLH1):c.*121A>G
|
rs766562208
|
0.00001
|
NM_000249.4(MLH1):c.*3A>G
|
rs587778880
|
0.00001
|
NM_000249.4(MLH1):c.-11C>T
|
rs776898290
|
0.00001
|
NM_000249.4(MLH1):c.-21C>T
|
rs775371644
|
0.00001
|
NM_000249.4(MLH1):c.-22C>T
|
rs771060933
|
0.00001
|
NM_000249.4(MLH1):c.1007G>A (p.Gly336Asp)
|
rs587781750
|
0.00001
|
NM_000249.4(MLH1):c.1038+15C>T
|
rs886058382
|
0.00001
|
NM_000249.4(MLH1):c.1038+9G>A
|
rs267607817
|
0.00001
|
NM_000249.4(MLH1):c.1039-5T>C
|
rs587782626
|
0.00001
|
NM_000249.4(MLH1):c.1063C>T (p.Pro355Ser)
|
rs756347993
|
0.00001
|
NM_000249.4(MLH1):c.107T>C (p.Ile36Thr)
|
rs267607707
|
0.00001
|
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu)
|
rs201673334
|
0.00001
|
NM_000249.4(MLH1):c.1118G>A (p.Gly373Glu)
|
rs774878513
|
0.00001
|
NM_000249.4(MLH1):c.1150G>A (p.Val384Ile)
|
rs757350157
|
0.00001
|
NM_000249.4(MLH1):c.1175A>G (p.Lys392Arg)
|
rs587780678
|
0.00001
|
NM_000249.4(MLH1):c.1202G>A (p.Ser401Asn)
|
rs587779951
|
0.00001
|
NM_000249.4(MLH1):c.1216A>G (p.Ser406Gly)
|
rs864622687
|
0.00001
|
NM_000249.4(MLH1):c.1236C>T (p.Val412=)
|
rs369576099
|
0.00001
|
NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn)
|
rs373767220
|
0.00001
|
NM_000249.4(MLH1):c.1261A>G (p.Ser421Gly)
|
rs755898663
|
0.00001
|
NM_000249.4(MLH1):c.1277A>T (p.Gln426Leu)
|
rs876659252
|
0.00001
|
NM_000249.4(MLH1):c.1327A>C (p.Lys443Gln)
|
rs34213726
|
0.00001
|
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp)
|
rs587779952
|
0.00001
|
NM_000249.4(MLH1):c.1415G>A (p.Arg472Lys)
|
rs63750498
|
0.00001
|
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln)
|
rs63751083
|
0.00001
|
NM_000249.4(MLH1):c.144A>C (p.Gln48His)
|
rs147342421
|
0.00001
|
NM_000249.4(MLH1):c.1460G>A (p.Arg487Gln)
|
rs587778917
|
0.00001
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
NM_000249.4(MLH1):c.1538T>C (p.Ile513Thr)
|
rs876658689
|
0.00001
|
NM_000249.4(MLH1):c.1541A>G (p.Asn514Ser)
|
rs772245091
|
0.00001
|
NM_000249.4(MLH1):c.1558+4C>T
|
rs531873434
|
0.00001
|
NM_000249.4(MLH1):c.1591G>A (p.Val531Met)
|
rs764663152
|
0.00001
|
NM_000249.4(MLH1):c.1637A>G (p.Lys546Arg)
|
rs587779954
|
0.00001
|
NM_000249.4(MLH1):c.1652A>G (p.Asn551Ser)
|
rs63750271
|
0.00001
|
NM_000249.4(MLH1):c.1669G>A (p.Glu557Lys)
|
rs63751244
|
0.00001
|
NM_000249.4(MLH1):c.1682A>G (p.Tyr561Cys)
|
rs1289807424
|
0.00001
|
NM_000249.4(MLH1):c.1693A>T (p.Ile565Phe)
|
rs63750062
|
0.00001
|
NM_000249.4(MLH1):c.1698T>C (p.Tyr566=)
|
rs876658915
|
0.00001
|
NM_000249.4(MLH1):c.1731+14C>G
|
rs745643356
|
0.00001
|
NM_000249.4(MLH1):c.1731+8T>C
|
rs370108219
|
0.00001
|
NM_000249.4(MLH1):c.1761G>A (p.Met587Ile)
|
rs747665234
|
0.00001
|
NM_000249.4(MLH1):c.1775G>C (p.Ser592Thr)
|
rs587782621
|
0.00001
|
NM_000249.4(MLH1):c.1834G>A (p.Val612Ile)
|
rs587779956
|
0.00001
|
NM_000249.4(MLH1):c.1842T>G (p.Phe614Leu)
|
rs758353338
|
0.00001
|
NM_000249.4(MLH1):c.1850A>C (p.Lys617Thr)
|
rs780199021
|
0.00001
|
NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu)
|
rs377241633
|
0.00001
|
NM_000249.4(MLH1):c.1896+17T>C
|
rs193922368
|
0.00001
|
NM_000249.4(MLH1):c.1896+5G>A
|
rs759870594
|
0.00001
|
NM_000249.4(MLH1):c.1896+7C>T
|
rs863224339
|
0.00001
|
NM_000249.4(MLH1):c.1897-7C>T
|
rs373078652
|
0.00001
|
NM_000249.4(MLH1):c.1989+12A>G
|
rs755976424
|
0.00001
|
NM_000249.4(MLH1):c.1990-6G>A
|
rs117221851
|
0.00001
|
NM_000249.4(MLH1):c.2016T>G (p.Cys672Trp)
|
rs1312172811
|
0.00001
|
NM_000249.4(MLH1):c.2017T>C (p.Phe673Leu)
|
rs587780680
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000249.4(MLH1):c.2060G>A (p.Arg687Gln)
|
rs587781310
|
0.00001
|
NM_000249.4(MLH1):c.207+1G>A
|
rs267607718
|
0.00001
|
NM_000249.4(MLH1):c.207+26del
|
rs1057517621
|
0.00001
|
NM_000249.4(MLH1):c.2070C>T (p.Tyr690=)
|
rs550890395
|
0.00001
|
NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter)
|
rs147542208
|
0.00001
|
NM_000249.4(MLH1):c.2104-22T>G
|
rs267607890
|
0.00001
|
NM_000249.4(MLH1):c.2107G>A (p.Glu703Lys)
|
rs747727493
|
0.00001
|
NM_000249.4(MLH1):c.2162A>G (p.Tyr721Cys)
|
rs587778986
|
0.00001
|
NM_000249.4(MLH1):c.2172G>A (p.Leu724=)
|
rs780045031
|
0.00001
|
NM_000249.4(MLH1):c.221A>T (p.Asp74Val)
|
rs751894165
|
0.00001
|
NM_000249.4(MLH1):c.2240C>G (p.Pro747Arg)
|
rs1224959447
|
0.00001
|
NM_000249.4(MLH1):c.2242G>C (p.Asp748His)
|
rs374380262
|
0.00001
|
NM_000249.4(MLH1):c.2254G>C (p.Val752Leu)
|
rs1196350669
|
0.00001
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
NM_000249.4(MLH1):c.283T>G (p.Ser95Ala)
|
rs63751070
|
0.00001
|
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)
|
rs63751221
|
0.00001
|
NM_000249.4(MLH1):c.306+4A>G
|
rs267607733
|
0.00001
|
NM_000249.4(MLH1):c.306G>A (p.Glu102=)
|
rs63751665
|
0.00001
|
NM_000249.4(MLH1):c.346A>G (p.Thr116Ala)
|
rs750353040
|
0.00001
|
NM_000249.4(MLH1):c.351G>A (p.Thr117=)
|
rs61751643
|
0.00001
|
NM_000249.4(MLH1):c.359C>G (p.Ala120Gly)
|
rs267607740
|
0.00001
|
NM_000249.4(MLH1):c.386G>A (p.Ser129Asn)
|
rs755678310
|
0.00001
|
NM_000249.4(MLH1):c.452C>T (p.Thr151Met)
|
rs776969475
|
0.00001
|
NM_000249.4(MLH1):c.4T>G (p.Ser2Ala)
|
rs1448308275
|
0.00001
|
NM_000249.4(MLH1):c.532G>C (p.Glu178Gln)
|
rs1248251121
|
0.00001
|
NM_000249.4(MLH1):c.546-18T>C
|
rs1057517622
|
0.00001
|
NM_000249.4(MLH1):c.563C>T (p.Ala188Val)
|
rs777971431
|
0.00001
|
NM_000249.4(MLH1):c.589-17T>A
|
rs754180618
|
0.00001
|
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu)
|
rs587779029
|
0.00001
|
NM_000249.4(MLH1):c.601G>C (p.Val201Leu)
|
rs534184145
|
0.00001
|
NM_000249.4(MLH1):c.636C>T (p.Thr212=)
|
rs138735345
|
0.00001
|
NM_000249.4(MLH1):c.650G>A (p.Arg217His)
|
rs762099920
|
0.00001
|
NM_000249.4(MLH1):c.652T>C (p.Ser218Pro)
|
rs750650349
|
0.00001
|
NM_000249.4(MLH1):c.678-4A>G
|
rs766711342
|
0.00001
|
NM_000249.4(MLH1):c.682C>A (p.Leu228Met)
|
rs751628735
|
0.00001
|
NM_000249.4(MLH1):c.721A>G (p.Lys241Glu)
|
rs587778447
|
0.00001
|
NM_000249.4(MLH1):c.743A>G (p.Asn248Ser)
|
rs587782800
|
0.00001
|
NM_000249.4(MLH1):c.788A>G (p.Asn263Ser)
|
rs104894997
|
0.00001
|
NM_000249.4(MLH1):c.791-14T>C
|
rs751254837
|
0.00001
|
NM_000249.4(MLH1):c.797T>C (p.Leu266Pro)
|
rs747697495
|
0.00001
|
NM_000249.4(MLH1):c.79C>T (p.Arg27Trp)
|
rs756398627
|
0.00001
|
NM_000249.4(MLH1):c.821A>G (p.Lys274Arg)
|
rs769958855
|
0.00001
|
NM_000249.4(MLH1):c.842C>G (p.Ala281Gly)
|
rs63749950
|
0.00001
|
NM_000249.4(MLH1):c.845C>G (p.Ala282Gly)
|
rs63750360
|
0.00001
|
NM_000249.4(MLH1):c.848A>G (p.Tyr283Cys)
|
rs201931669
|
0.00001
|
NM_000249.4(MLH1):c.880C>T (p.Leu294Phe)
|
rs2082757345
|
0.00001
|
NM_000249.4(MLH1):c.884+10C>T
|
rs864622424
|
0.00001
|
NM_000249.4(MLH1):c.884+10del
|
rs878853793
|
0.00001
|
NM_000249.4(MLH1):c.885-5G>T
|
rs267607802
|
0.00001
|
NM_000249.4(MLH1):c.887T>C (p.Leu296Ser)
|
rs63750547
|
0.00001
|
NM_000249.4(MLH1):c.963_1014dup (p.Ser339fs)
|
rs1553648058
|
0.00001
|
NM_000249.4(MLH1):c.976G>A (p.Val326Met)
|
rs730881739
|
0.00001
|
NM_000249.4(MLH1):c.979C>G (p.Gln327Glu)
|
rs587782087
|
0.00001
|
NM_000251.2(MSH2):c.-43G>C
|
rs781492698
|
0.00001
|
NM_000251.2(MSH2):c.-94C>G
|
rs786202841
|
0.00001
|
NM_000251.2(MSH2):c.-98C>T
|
rs777285149
|
0.00001
|
NM_000251.3(MSH2):c.-9G>C
|
rs547444746
|
0.00001
|
NM_000251.3(MSH2):c.1077-15G>T
|
rs753277524
|
0.00001
|
NM_000251.3(MSH2):c.10C>A (p.Gln4Lys)
|
rs878853797
|
0.00001
|
NM_000251.3(MSH2):c.1124C>T (p.Thr375Ile)
|
rs774539871
|
0.00001
|
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)
|
rs776174711
|
0.00001
|
NM_000251.3(MSH2):c.1145G>A (p.Arg382His)
|
rs267607947
|
0.00001
|
NM_000251.3(MSH2):c.1156G>A (p.Asp386Asn)
|
rs1419725521
|
0.00001
|
NM_000251.3(MSH2):c.1157A>G (p.Asp386Gly)
|
rs1203515094
|
0.00001
|
NM_000251.3(MSH2):c.115C>A (p.Arg39=)
|
rs786202334
|
0.00001
|
NM_000251.3(MSH2):c.1166G>A (p.Arg389Gln)
|
rs757276241
|
0.00001
|
NM_000251.3(MSH2):c.1171G>A (p.Ala391Thr)
|
rs878853798
|
0.00001
|
NM_000251.3(MSH2):c.1175A>T (p.Lys392Met)
|
rs61756465
|
0.00001
|
NM_000251.3(MSH2):c.118G>A (p.Gly40Ser)
|
rs63751260
|
0.00001
|
NM_000251.3(MSH2):c.11A>T (p.Gln4Leu)
|
rs754562075
|
0.00001
|
NM_000251.3(MSH2):c.1223A>G (p.Tyr408Cys)
|
rs63750379
|
0.00001
|
NM_000251.3(MSH2):c.123C>G (p.Asp41Glu)
|
rs761960690
|
0.00001
|
NM_000251.3(MSH2):c.1254A>G (p.Ile418Met)
|
rs751431238
|
0.00001
|
NM_000251.3(MSH2):c.1270C>T (p.His424Tyr)
|
rs587782278
|
0.00001
|
NM_000251.3(MSH2):c.1311G>T (p.Val437=)
|
rs730881781
|
0.00001
|
NM_000251.3(MSH2):c.1334C>T (p.Ser445Phe)
|
rs752067883
|
0.00001
|
NM_000251.3(MSH2):c.1344C>T (p.Ser448=)
|
rs1010360604
|
0.00001
|
NM_000251.3(MSH2):c.1347G>C (p.Lys449Asn)
|
rs587781331
|
0.00001
|
NM_000251.3(MSH2):c.1360A>G (p.Ile454Val)
|
rs587781627
|
0.00001
|
NM_000251.3(MSH2):c.1361T>C (p.Ile454Thr)
|
rs1060502025
|
0.00001
|
NM_000251.3(MSH2):c.1378A>G (p.Met460Val)
|
rs575905950
|
0.00001
|
NM_000251.3(MSH2):c.1379T>C (p.Met460Thr)
|
rs1553361303
|
0.00001
|
NM_000251.3(MSH2):c.1418C>T (p.Ser473Leu)
|
rs63751403
|
0.00001
|
NM_000251.3(MSH2):c.1432C>T (p.Leu478Phe)
|
rs1051194508
|
0.00001
|
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)
|
rs587781314
|
0.00001
|
NM_000251.3(MSH2):c.146A>T (p.Asp49Val)
|
rs63750335
|
0.00001
|
NM_000251.3(MSH2):c.1478A>T (p.Gln493Leu)
|
rs376990143
|
0.00001
|
NM_000251.3(MSH2):c.1480T>C (p.Ser494Pro)
|
rs55653533
|
0.00001
|
NM_000251.3(MSH2):c.1489A>G (p.Ile497Val)
|
rs755501968
|
0.00001
|
NM_000251.3(MSH2):c.1571G>A (p.Arg524His)
|
rs63751207
|
0.00001
|
NM_000251.3(MSH2):c.1582A>C (p.Lys528Gln)
|
rs199744440
|
0.00001
|
NM_000251.3(MSH2):c.1597C>G (p.Leu533Val)
|
rs786202987
|
0.00001
|
NM_000251.3(MSH2):c.1622C>T (p.Thr541Ile)
|
rs864622079
|
0.00001
|
NM_000251.3(MSH2):c.1640A>G (p.Asn547Ser)
|
rs267607967
|
0.00001
|
NM_000251.3(MSH2):c.164G>A (p.Arg55Gln)
|
rs748196422
|
0.00001
|
NM_000251.3(MSH2):c.1670C>G (p.Thr557Ser)
|
rs139920308
|
0.00001
|
NM_000251.3(MSH2):c.1684G>C (p.Glu562Gln)
|
rs1114167816
|
0.00001
|
NM_000251.3(MSH2):c.1709A>G (p.Tyr570Cys)
|
rs587779963
|
0.00001
|
NM_000251.3(MSH2):c.1760-10T>A
|
rs767536391
|
0.00001
|
NM_000251.3(MSH2):c.1781C>T (p.Thr594Ile)
|
rs1553368510
|
0.00001
|
NM_000251.3(MSH2):c.1792G>A (p.Val598Met)
|
rs778152746
|
0.00001
|
NM_000251.3(MSH2):c.1796T>C (p.Leu599Ser)
|
rs747504492
|
0.00001
|
NM_000251.3(MSH2):c.1802A>G (p.Gln601Arg)
|
rs779447213
|
0.00001
|
NM_000251.3(MSH2):c.1804C>G (p.Leu602Val)
|
rs748797209
|
0.00001
|
NM_000251.3(MSH2):c.1819A>G (p.Ser607Gly)
|
rs772991620
|
0.00001
|
NM_000251.3(MSH2):c.1825G>T (p.Ala609Ser)
|
rs150980616
|
0.00001
|
NM_000251.3(MSH2):c.1831G>A (p.Val611Met)
|
rs369385048
|
0.00001
|
NM_000251.3(MSH2):c.1862G>A (p.Arg621Gln)
|
rs759263820
|
0.00001
|
NM_000251.3(MSH2):c.186G>A (p.Gly62=)
|
rs750058876
|
0.00001
|
NM_000251.3(MSH2):c.1882G>A (p.Gly628Arg)
|
rs371776176
|
0.00001
|
NM_000251.3(MSH2):c.1897A>G (p.Ile633Val)
|
rs771695599
|
0.00001
|
NM_000251.3(MSH2):c.1907C>T (p.Ala636Val)
|
rs63750279
|
0.00001
|
NM_000251.3(MSH2):c.1927G>A (p.Glu643Lys)
|
rs374840361
|
0.00001
|
NM_000251.3(MSH2):c.1933C>G (p.Gln645Glu)
|
rs267607982
|
0.00001
|
NM_000251.3(MSH2):c.1967A>G (p.Tyr656Cys)
|
rs185356145
|
0.00001
|
NM_000251.3(MSH2):c.1999A>G (p.Ile667Val)
|
rs876660585
|
0.00001
|
NM_000251.3(MSH2):c.2006-4G>A
|
rs369853630
|
0.00001
|
NM_000251.3(MSH2):c.2039G>A (p.Arg680Gln)
|
rs1203462814
|
0.00001
|
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg)
|
rs267607995
|
0.00001
|
NM_000251.3(MSH2):c.2048G>T (p.Gly683Val)
|
rs755920849
|
0.00001
|
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile)
|
rs63750790
|
0.00001
|
NM_000251.3(MSH2):c.2083G>C (p.Val695Leu)
|
rs772491283
|
0.00001
|
NM_000251.3(MSH2):c.2106G>A (p.Val702=)
|
rs786201108
|
0.00001
|
NM_000251.3(MSH2):c.211+5G>T
|
rs1060501999
|
0.00001
|
NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr)
|
rs564657106
|
0.00001
|
NM_000251.3(MSH2):c.212-3A>T
|
rs879255341
|
0.00001
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
NM_000251.3(MSH2):c.2132G>A (p.Arg711Gln)
|
rs138465383
|
0.00001
|
NM_000251.3(MSH2):c.213A>G (p.Gly71=)
|
rs878853808
|
0.00001
|
NM_000251.3(MSH2):c.2170A>G (p.Thr724Ala)
|
rs879254203
|
0.00001
|
NM_000251.3(MSH2):c.2171C>T (p.Thr724Met)
|
rs63751125
|
0.00001
|
NM_000251.3(MSH2):c.2197G>A (p.Ala733Thr)
|
rs772662439
|
0.00001
|
NM_000251.3(MSH2):c.220A>C (p.Asn74His)
|
rs150548839
|
0.00001
|
NM_000251.3(MSH2):c.2224G>A (p.Asp742Asn)
|
rs879254183
|
0.00001
|
NM_000251.3(MSH2):c.2296A>G (p.Ile766Val)
|
rs374399939
|
0.00001
|
NM_000251.3(MSH2):c.2320A>T (p.Ile774Phe)
|
rs775464903
|
0.00001
|
NM_000251.3(MSH2):c.2386A>G (p.Thr796Ala)
|
rs876660738
|
0.00001
|
NM_000251.3(MSH2):c.2437A>G (p.Met813Val)
|
rs63749841
|
0.00001
|
NM_000251.3(MSH2):c.2439G>A (p.Met813Ile)
|
rs587781678
|
0.00001
|
NM_000251.3(MSH2):c.2458+2T>C
|
rs1278858560
|
0.00001
|
NM_000251.3(MSH2):c.2459-6_2459-2del
|
rs1114167841
|
0.00001
|
NM_000251.3(MSH2):c.2487T>G (p.His829Gln)
|
rs989510855
|
0.00001
|
NM_000251.3(MSH2):c.2504A>G (p.Asn835Ser)
|
rs779729016
|
0.00001
|
NM_000251.3(MSH2):c.2525A>T (p.Glu842Val)
|
rs373393954
|
0.00001
|
NM_000251.3(MSH2):c.2569A>G (p.Ile857Val)
|
rs753459308
|
0.00001
|
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu)
|
rs63750849
|
0.00001
|
NM_000251.3(MSH2):c.2593A>G (p.Ile865Val)
|
rs1013401625
|
0.00001
|
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu)
|
rs730881772
|
0.00001
|
NM_000251.3(MSH2):c.2634+12T>C
|
rs372907481
|
0.00001
|
NM_000251.3(MSH2):c.2661C>G (p.Phe887Leu)
|
rs1290935051
|
0.00001
|
NM_000251.3(MSH2):c.274C>G (p.Leu92Val)
|
rs587779154
|
0.00001
|
NM_000251.3(MSH2):c.2789dup (p.Val932fs)
|
rs786202481
|
0.00001
|
NM_000251.3(MSH2):c.2804G>A (p.Ter935=)
|
rs876658335
|
0.00001
|
NM_000251.3(MSH2):c.319G>C (p.Ala107Pro)
|
rs587779158
|
0.00001
|
NM_000251.3(MSH2):c.335C>G (p.Ser112Cys)
|
rs769215192
|
0.00001
|
NM_000251.3(MSH2):c.362A>G (p.Tyr121Cys)
|
rs587779971
|
0.00001
|
NM_000251.3(MSH2):c.376G>A (p.Gly126Ser)
|
rs767371843
|
0.00001
|
NM_000251.3(MSH2):c.386C>G (p.Ser129Cys)
|
rs587779972
|
0.00001
|
NM_000251.3(MSH2):c.38G>A (p.Ser13Asn)
|
rs63749907
|
0.00001
|
NM_000251.3(MSH2):c.395A>T (p.Glu132Val)
|
rs1486720679
|
0.00001
|
NM_000251.3(MSH2):c.422T>C (p.Met141Thr)
|
rs768313658
|
0.00001
|
NM_000251.3(MSH2):c.437G>T (p.Gly146Val)
|
rs772052262
|
0.00001
|
NM_000251.3(MSH2):c.439G>A (p.Val147Ile)
|
rs773125415
|
0.00001
|
NM_000251.3(MSH2):c.43G>A (p.Ala15Thr)
|
rs1183892581
|
0.00001
|
NM_000251.3(MSH2):c.446G>A (p.Gly149Asp)
|
rs587779162
|
0.00001
|
NM_000251.3(MSH2):c.459C>T (p.Ser153=)
|
rs63751065
|
0.00001
|
NM_000251.3(MSH2):c.49G>A (p.Val17Ile)
|
rs63750966
|
0.00001
|
NM_000251.3(MSH2):c.517C>G (p.Leu173Val)
|
rs1176822890
|
0.00001
|
NM_000251.3(MSH2):c.554C>T (p.Ser185Phe)
|
rs878853819
|
0.00001
|
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)
|
rs141021599
|
0.00001
|
NM_000251.3(MSH2):c.5C>T (p.Ala2Val)
|
rs587778521
|
0.00001
|
NM_000251.3(MSH2):c.610G>A (p.Gly204Arg)
|
rs63750574
|
0.00001
|
NM_000251.3(MSH2):c.641G>T (p.Arg214Ile)
|
rs763298811
|
0.00001
|
NM_000251.3(MSH2):c.646-3T>C
|
rs267607930
|
0.00001
|
NM_000251.3(MSH2):c.669G>A (p.Leu223=)
|
rs751195930
|
0.00001
|
NM_000251.3(MSH2):c.701C>T (p.Thr234Ile)
|
rs730881773
|
0.00001
|
NM_000251.3(MSH2):c.715C>G (p.Gln239Glu)
|
rs63750488
|
0.00001
|
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)
|
rs199676483
|
0.00001
|
NM_000251.3(MSH2):c.727C>T (p.Arg243Trp)
|
rs138857091
|
0.00001
|
NM_000251.3(MSH2):c.728G>A (p.Arg243Gln)
|
rs63751455
|
0.00001
|
NM_000251.3(MSH2):c.742A>G (p.Lys248Glu)
|
rs587779178
|
0.00001
|
NM_000251.3(MSH2):c.755A>G (p.Gln252Arg)
|
rs370906735
|
0.00001
|
NM_000251.3(MSH2):c.759G>A (p.Met253Ile)
|
rs1060502021
|
0.00001
|
NM_000251.3(MSH2):c.763A>G (p.Ser255Gly)
|
rs761529282
|
0.00001
|
NM_000251.3(MSH2):c.775C>T (p.Pro259Ser)
|
rs587781294
|
0.00001
|
NM_000251.3(MSH2):c.803C>T (p.Ser268Leu)
|
rs563410947
|
0.00001
|
NM_000251.3(MSH2):c.816G>A (p.Ala272=)
|
rs368912987
|
0.00001
|
NM_000251.3(MSH2):c.877A>G (p.Thr293Ala)
|
rs1296650088
|
0.00001
|
NM_000251.3(MSH2):c.905T>C (p.Leu302Ser)
|
rs63749914
|
0.00001
|
NM_000251.3(MSH2):c.934C>G (p.Leu312Val)
|
rs756398636
|
0.00001
|
NM_000251.3(MSH2):c.972G>A (p.Gln324=)
|
rs63750505
|
0.00001
|
NM_000251.3(MSH2):c.982G>C (p.Ala328Pro)
|
rs753237286
|
0.00001
|
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser)
|
rs779673318
|
0.00001
|
NM_000535.7(PMS2):c.1047G>A (p.Lys349=)
|
rs1422380612
|
0.00001
|
NM_000535.7(PMS2):c.1058C>T (p.Ala353Val)
|
rs543676323
|
0.00001
|
NM_000535.7(PMS2):c.106A>C (p.Ser36Arg)
|
rs587781918
|
0.00001
|
NM_000535.7(PMS2):c.1139T>G (p.Val380Gly)
|
rs748971523
|
0.00001
|
NM_000535.7(PMS2):c.1144+1G>A
|
rs373885654
|
0.00001
|
NM_000535.7(PMS2):c.114G>A (p.Ala38=)
|
rs558032755
|
0.00001
|
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr)
|
rs370752614
|
0.00001
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
NM_000535.7(PMS2):c.1262G>A (p.Arg421Gln)
|
rs778482303
|
0.00001
|
NM_000535.7(PMS2):c.1264G>A (p.Glu422Lys)
|
rs587782175
|
0.00001
|
NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys)
|
rs876660834
|
0.00001
|
NM_000535.7(PMS2):c.1398C>T (p.Gly466=)
|
rs752666485
|
0.00001
|
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser)
|
rs373114291
|
0.00001
|
NM_000535.7(PMS2):c.1455G>A (p.Thr485=)
|
rs752665758
|
0.00001
|
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val)
|
rs587779328
|
0.00001
|
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)
|
rs1064794577
|
0.00001
|
NM_000535.7(PMS2):c.1477G>A (p.Asp493Asn)
|
rs148642064
|
0.00001
|
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu)
|
rs587782602
|
0.00001
|
NM_000535.7(PMS2):c.14A>T (p.Glu5Val)
|
rs876659080
|
0.00001
|
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys)
|
rs376142390
|
0.00001
|
NM_000535.7(PMS2):c.1587G>A (p.Ser529=)
|
rs786201709
|
0.00001
|
NM_000535.7(PMS2):c.163+4A>G
|
rs864622749
|
0.00001
|
NM_000535.7(PMS2):c.164-1G>A
|
rs763308607
|
0.00001
|
NM_000535.7(PMS2):c.1682A>C (p.Lys561Thr)
|
rs876658481
|
0.00001
|
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val)
|
rs770625733
|
0.00001
|
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)
|
rs762100304
|
0.00001
|
NM_000535.7(PMS2):c.1765G>C (p.Asp589His)
|
rs749727182
|
0.00001
|
NM_000535.7(PMS2):c.1798A>G (p.Met600Val)
|
rs1304634005
|
0.00001
|
NM_000535.7(PMS2):c.182A>G (p.Tyr61Cys)
|
rs773109986
|
0.00001
|
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys)
|
rs886062400
|
0.00001
|
NM_000535.7(PMS2):c.1926A>G (p.Glu642=)
|
rs765262682
|
0.00001
|
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)
|
rs63751422
|
0.00001
|
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg)
|
rs760629688
|
0.00001
|
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg)
|
rs267608167
|
0.00001
|
NM_000535.7(PMS2):c.2007-2A>C
|
rs587782336
|
0.00001
|
NM_000535.7(PMS2):c.2033T>C (p.Ile678Thr)
|
rs587782553
|
0.00001
|
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr)
|
rs778251286
|
0.00001
|
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val)
|
rs1060503144
|
0.00001
|
NM_000535.7(PMS2):c.2128G>A (p.Glu710Lys)
|
rs1060503131
|
0.00001
|
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter)
|
rs876659480
|
0.00001
|
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)
|
rs730881915
|
0.00001
|
NM_000535.7(PMS2):c.2164A>G (p.Arg722Gly)
|
rs1284646352
|
0.00001
|
NM_000535.7(PMS2):c.2174+1G>A
|
rs267608172
|
0.00001
|
NM_000535.7(PMS2):c.2207A>C (p.Glu736Ala)
|
rs1060503115
|
0.00001
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
NM_000535.7(PMS2):c.2266G>T (p.Asp756Tyr)
|
rs762206330
|
0.00001
|
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys)
|
rs751235177
|
0.00001
|
NM_000535.7(PMS2):c.23+1G>T
|
rs587782074
|
0.00001
|
NM_000535.7(PMS2):c.2335G>A (p.Gly779Arg)
|
rs587780053
|
0.00001
|
NM_000535.7(PMS2):c.2345A>G (p.Asp782Gly)
|
rs745500014
|
0.00001
|
NM_000535.7(PMS2):c.2359A>T (p.Ile787Phe)
|
rs191300933
|
0.00001
|
NM_000535.7(PMS2):c.2365A>T (p.Met789Leu)
|
rs377259633
|
0.00001
|
NM_000535.7(PMS2):c.2382dup (p.Gly795fs)
|
rs1231406078
|
0.00001
|
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile)
|
rs368737800
|
0.00001
|
NM_000535.7(PMS2):c.2396G>A (p.Arg799Gln)
|
rs587780055
|
0.00001
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln)
|
rs1060503143
|
0.00001
|
NM_000535.7(PMS2):c.2412G>C (p.Lys804Asn)
|
rs547715146
|
0.00001
|
NM_000535.7(PMS2):c.2414A>G (p.Gln805Arg)
|
rs967502389
|
0.00001
|
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys)
|
rs730881919
|
0.00001
|
NM_000535.7(PMS2):c.2422G>A (p.Ala808Thr)
|
rs1306035279
|
0.00001
|
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu)
|
rs587782665
|
0.00001
|
NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys)
|
rs587782828
|
0.00001
|
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)
|
rs1064794083
|
0.00001
|
NM_000535.7(PMS2):c.251-2A>T
|
rs587779340
|
0.00001
|
NM_000535.7(PMS2):c.2567T>G (p.Leu856Arg)
|
rs587782342
|
0.00001
|
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala)
|
rs786202383
|
0.00001
|
NM_000535.7(PMS2):c.2T>C (p.Met1Thr)
|
rs587780059
|
0.00001
|
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)
|
rs188006077
|
0.00001
|
NM_000535.7(PMS2):c.346G>A (p.Ala116Thr)
|
rs751799116
|
0.00001
|
NM_000535.7(PMS2):c.353+4A>G
|
rs760538709
|
0.00001
|
NM_000535.7(PMS2):c.354-5C>G
|
rs200591010
|
0.00001
|
NM_000535.7(PMS2):c.354-7C>T
|
rs758471869
|
0.00001
|
NM_000535.7(PMS2):c.386C>T (p.Ala129Val)
|
rs752284380
|
0.00001
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
0.00001
|
NM_000535.7(PMS2):c.403C>G (p.Leu135Val)
|
rs876658423
|
0.00001
|
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys)
|
rs758561884
|
0.00001
|
NM_000535.7(PMS2):c.452G>A (p.Arg151His)
|
rs35629870
|
0.00001
|
NM_000535.7(PMS2):c.466A>G (p.Thr156Ala)
|
rs786204206
|
0.00001
|
NM_000535.7(PMS2):c.473G>T (p.Ser158Ile)
|
rs750354871
|
0.00001
|
NM_000535.7(PMS2):c.479A>G (p.Gln160Arg)
|
rs1554303922
|
0.00001
|
NM_000535.7(PMS2):c.494C>T (p.Thr165Ile)
|
rs587781541
|
0.00001
|
NM_000535.7(PMS2):c.502G>A (p.Val168Met)
|
rs762645507
|
0.00001
|
NM_000535.7(PMS2):c.506G>A (p.Arg169His)
|
rs730881917
|
0.00001
|
NM_000535.7(PMS2):c.537+17C>T
|
rs548285941
|
0.00001
|
NM_000535.7(PMS2):c.538-1G>C
|
rs988423880
|
0.00001
|
NM_000535.7(PMS2):c.538-2A>G
|
rs758304323
|
0.00001
|
NM_000535.7(PMS2):c.593dup (p.Arg199fs)
|
rs267608148
|
0.00001
|
NM_000535.7(PMS2):c.596G>A (p.Arg199His)
|
rs876658387
|
0.00001
|
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser)
|
rs779946576
|
0.00001
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
0.00001
|
NM_000535.7(PMS2):c.653G>A (p.Gly218Asp)
|
rs368043334
|
0.00001
|
NM_000535.7(PMS2):c.667A>G (p.Ile223Val)
|
rs876660067
|
0.00001
|
NM_000535.7(PMS2):c.705+13G>A
|
rs776790763
|
0.00001
|
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)
|
rs1458321358
|
0.00001
|
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn)
|
rs1060503111
|
0.00001
|
NM_000535.7(PMS2):c.740C>G (p.Pro247Arg)
|
rs1173245928
|
0.00001
|
NM_000535.7(PMS2):c.750C>T (p.Ser250=)
|
rs200439295
|
0.00001
|
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr)
|
rs775445157
|
0.00001
|
NM_000535.7(PMS2):c.791A>G (p.His264Arg)
|
rs1060503129
|
0.00001
|
NM_000535.7(PMS2):c.804-2A>G
|
rs1307026290
|
0.00001
|
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)
|
rs786201047
|
0.00001
|
NM_000535.7(PMS2):c.825A>G (p.Gln275=)
|
rs876659736
|
0.00001
|
NM_000535.7(PMS2):c.825A>T (p.Gln275His)
|
rs876659736
|
0.00001
|
NM_000535.7(PMS2):c.847A>C (p.Ser283Arg)
|
rs876660871
|
0.00001
|
NM_000535.7(PMS2):c.880C>T (p.Arg294Trp)
|
rs563433235
|
0.00001
|
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln)
|
rs373239341
|
0.00001
|
NM_000535.7(PMS2):c.884G>A (p.Arg295Gln)
|
rs369763423
|
0.00001
|
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg)
|
rs56203955
|
0.00001
|
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln)
|
rs375507981
|
0.00001
|
NM_000535.7(PMS2):c.904G>T (p.Val302Phe)
|
rs755960629
|
0.00001
|
NM_000535.7(PMS2):c.913C>G (p.Leu305Val)
|
rs750420143
|
0.00001
|
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
|
rs200640585
|
0.00001
|
NM_000535.7(PMS2):c.962T>C (p.Val321Ala)
|
rs186448384
|
0.00001
|
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)
|
rs587782852
|
0.00001
|
NM_000535.7(PMS2):c.994G>A (p.Val332Ile)
|
rs1236095389
|
0.00001
|
NM_001040108.2(MLH3):c.1002C>T (p.Asp334=)
|
rs764046706
|
0.00001
|
NM_001040108.2(MLH3):c.1015T>C (p.Cys339Arg)
|
rs1183691617
|
0.00001
|
NM_001040108.2(MLH3):c.1030G>A (p.Val344Met)
|
rs758958422
|
0.00001
|
NM_001040108.2(MLH3):c.1049A>C (p.Gln350Pro)
|
rs770643186
|
0.00001
|
NM_001040108.2(MLH3):c.1107T>C (p.Asn369=)
|
rs1892431997
|
0.00001
|
NM_001040108.2(MLH3):c.1125T>C (p.Asp375=)
|
rs781394261
|
0.00001
|
NM_001040108.2(MLH3):c.1148C>T (p.Thr383Ile)
|
rs1476030225
|
0.00001
|
NM_001040108.2(MLH3):c.1152C>T (p.Ser384=)
|
rs752741447
|
0.00001
|
NM_001040108.2(MLH3):c.1166A>G (p.Asn389Ser)
|
rs769209737
|
0.00001
|
NM_001040108.2(MLH3):c.1170C>G (p.Phe390Leu)
|
rs1892424563
|
0.00001
|
NM_001040108.2(MLH3):c.1183A>G (p.Asn395Asp)
|
rs776076959
|
0.00001
|
NM_001040108.2(MLH3):c.119G>A (p.Cys40Tyr)
|
rs746448677
|
0.00001
|
NM_001040108.2(MLH3):c.121G>A (p.Val41Met)
|
rs770297216
|
0.00001
|
NM_001040108.2(MLH3):c.1257C>T (p.Asn419=)
|
rs1594781328
|
0.00001
|
NM_001040108.2(MLH3):c.126T>G (p.Ala42=)
|
rs556487716
|
0.00001
|
NM_001040108.2(MLH3):c.1281T>C (p.Asp427=)
|
rs371123260
|
0.00001
|
NM_001040108.2(MLH3):c.1300A>G (p.Asn434Asp)
|
rs886050777
|
0.00001
|
NM_001040108.2(MLH3):c.1306A>G (p.Asn436Asp)
|
rs754824568
|
0.00001
|
NM_001040108.2(MLH3):c.1353C>G (p.Ser451Arg)
|
rs1479636962
|
0.00001
|
NM_001040108.2(MLH3):c.1377A>C (p.Gln459His)
|
rs775675058
|
0.00001
|
NM_001040108.2(MLH3):c.1384G>A (p.Asp462Asn)
|
rs369525473
|
0.00001
|
NM_001040108.2(MLH3):c.1427T>C (p.Ile476Thr)
|
rs759144160
|
0.00001
|
NM_001040108.2(MLH3):c.1432G>A (p.Ala478Thr)
|
rs201071230
|
0.00001
|
NM_001040108.2(MLH3):c.1490T>C (p.Leu497Ser)
|
rs1009026527
|
0.00001
|
NM_001040108.2(MLH3):c.1519A>G (p.Met507Val)
|
rs371891794
|
0.00001
|
NM_001040108.2(MLH3):c.1560G>T (p.Glu520Asp)
|
rs886050776
|
0.00001
|
NM_001040108.2(MLH3):c.1615G>A (p.Ala539Thr)
|
rs369273391
|
0.00001
|
NM_001040108.2(MLH3):c.1652C>G (p.Pro551Arg)
|
rs1230335603
|
0.00001
|
NM_001040108.2(MLH3):c.1669G>A (p.Ala557Thr)
|
rs1347649293
|
0.00001
|
NM_001040108.2(MLH3):c.1672A>G (p.Thr558Ala)
|
rs1386400935
|
0.00001
|
NM_001040108.2(MLH3):c.1688A>G (p.Gln563Arg)
|
rs777324118
|
0.00001
|
NM_001040108.2(MLH3):c.1736C>T (p.Thr579Ile)
|
rs1479954154
|
0.00001
|
NM_001040108.2(MLH3):c.1761T>C (p.Ser587=)
|
rs763313215
|
0.00001
|
NM_001040108.2(MLH3):c.1762A>G (p.Ser588Gly)
|
rs1892367899
|
0.00001
|
NM_001040108.2(MLH3):c.1770T>G (p.Cys590Trp)
|
rs769773711
|
0.00001
|
NM_001040108.2(MLH3):c.1794T>C (p.Tyr598=)
|
rs139018020
|
0.00001
|
NM_001040108.2(MLH3):c.1798C>T (p.Arg600Ter)
|
rs927878214
|
0.00001
|
NM_001040108.2(MLH3):c.1815C>T (p.Ser605=)
|
rs747865169
|
0.00001
|
NM_001040108.2(MLH3):c.1836A>G (p.Val612=)
|
rs1422736890
|
0.00001
|
NM_001040108.2(MLH3):c.1899T>C (p.Pro633=)
|
rs145978189
|
0.00001
|
NM_001040108.2(MLH3):c.1915C>A (p.Gln639Lys)
|
rs773131251
|
0.00001
|
NM_001040108.2(MLH3):c.1955C>T (p.Thr652Ile)
|
rs769332499
|
0.00001
|
NM_001040108.2(MLH3):c.2021A>G (p.Asn674Ser)
|
rs765583244
|
0.00001
|
NM_001040108.2(MLH3):c.2026A>G (p.Arg676Gly)
|
rs766265028
|
0.00001
|
NM_001040108.2(MLH3):c.2031G>A (p.Thr677=)
|
rs761342748
|
0.00001
|
NM_001040108.2(MLH3):c.2061T>C (p.Pro687=)
|
rs771380578
|
0.00001
|
NM_001040108.2(MLH3):c.2108A>T (p.Lys703Ile)
|
rs1330464135
|
0.00001
|
NM_001040108.2(MLH3):c.2129T>C (p.Leu710Ser)
|
rs1238847805
|
0.00001
|
NM_001040108.2(MLH3):c.2138del (p.Thr713fs)
|
rs774749587
|
0.00001
|
NM_001040108.2(MLH3):c.2174A>G (p.Asn725Ser)
|
rs772538373
|
0.00001
|
NM_001040108.2(MLH3):c.2193T>C (p.Asp731=)
|
rs780355853
|
0.00001
|
NM_001040108.2(MLH3):c.2197T>G (p.Leu733Val)
|
rs566653064
|
0.00001
|
NM_001040108.2(MLH3):c.2218A>G (p.Ile740Val)
|
rs1892322400
|
0.00001
|
NM_001040108.2(MLH3):c.2225G>A (p.Arg742His)
|
rs375623365
|
0.00001
|
NM_001040108.2(MLH3):c.2278C>T (p.Gln760Ter)
|
rs199834594
|
0.00001
|
NM_001040108.2(MLH3):c.2289G>T (p.Lys763Asn)
|
rs1428119509
|
0.00001
|
NM_001040108.2(MLH3):c.2331A>T (p.Gly777=)
|
rs375564813
|
0.00001
|
NM_001040108.2(MLH3):c.2344C>G (p.Leu782Val)
|
rs772267556
|
0.00001
|
NM_001040108.2(MLH3):c.236A>G (p.His79Arg)
|
rs753528013
|
0.00001
|
NM_001040108.2(MLH3):c.2389C>T (p.Arg797Cys)
|
rs954634089
|
0.00001
|
NM_001040108.2(MLH3):c.2391C>T (p.Arg797=)
|
rs766063089
|
0.00001
|
NM_001040108.2(MLH3):c.240G>A (p.Ser80=)
|
rs766371279
|
0.00001
|
NM_001040108.2(MLH3):c.2443G>C (p.Asp815His)
|
rs776060737
|
0.00001
|
NM_001040108.2(MLH3):c.244C>T (p.Gln82Ter)
|
rs372763743
|
0.00001
|
NM_001040108.2(MLH3):c.246G>A (p.Gln82=)
|
rs1407041352
|
0.00001
|
NM_001040108.2(MLH3):c.2483A>G (p.Glu828Gly)
|
rs754540902
|
0.00001
|
NM_001040108.2(MLH3):c.2491C>T (p.Pro831Ser)
|
rs1356949383
|
0.00001
|
NM_001040108.2(MLH3):c.2558T>C (p.Leu853Pro)
|
rs1181064566
|
0.00001
|
NM_001040108.2(MLH3):c.2574C>A (p.Leu858=)
|
rs754858362
|
0.00001
|
NM_001040108.2(MLH3):c.2592G>T (p.Leu864Phe)
|
rs1555345136
|
0.00001
|
NM_001040108.2(MLH3):c.2604G>A (p.Lys868=)
|
rs763227940
|
0.00001
|
NM_001040108.2(MLH3):c.2624C>G (p.Ser875Cys)
|
rs760079290
|
0.00001
|
NM_001040108.2(MLH3):c.2668A>G (p.Met890Val)
|
rs970455680
|
0.00001
|
NM_001040108.2(MLH3):c.2720A>T (p.Lys907Ile)
|
rs766847331
|
0.00001
|
NM_001040108.2(MLH3):c.2760T>C (p.Cys920=)
|
rs1255590960
|
0.00001
|
NM_001040108.2(MLH3):c.2798G>A (p.Gly933Asp)
|
rs780801367
|
0.00001
|
NM_001040108.2(MLH3):c.2846A>C (p.Lys949Thr)
|
rs766819210
|
0.00001
|
NM_001040108.2(MLH3):c.2850T>G (p.Asn950Lys)
|
rs762525606
|
0.00001
|
NM_001040108.2(MLH3):c.2874T>C (p.Asn958=)
|
rs751843650
|
0.00001
|
NM_001040108.2(MLH3):c.2897C>T (p.Ser966Leu)
|
rs762868700
|
0.00001
|
NM_001040108.2(MLH3):c.2903C>T (p.Thr968Ile)
|
rs769450598
|
0.00001
|
NM_001040108.2(MLH3):c.2905C>T (p.Pro969Ser)
|
rs759555217
|
0.00001
|
NM_001040108.2(MLH3):c.2906C>A (p.Pro969His)
|
rs776422424
|
0.00001
|
NM_001040108.2(MLH3):c.2916G>A (p.Leu972=)
|
rs1339430285
|
0.00001
|
NM_001040108.2(MLH3):c.2921A>G (p.Tyr974Cys)
|
rs143316827
|
0.00001
|
NM_001040108.2(MLH3):c.2940C>T (p.Thr980=)
|
rs750994816
|
0.00001
|
NM_001040108.2(MLH3):c.2954A>G (p.Asp985Gly)
|
rs761266398
|
0.00001
|
NM_001040108.2(MLH3):c.2959C>T (p.Leu987Phe)
|
rs933183454
|
0.00001
|
NM_001040108.2(MLH3):c.299T>C (p.Ile100Thr)
|
rs201611423
|
0.00001
|
NM_001040108.2(MLH3):c.3021T>G (p.Asn1007Lys)
|
rs1360064914
|
0.00001
|
NM_001040108.2(MLH3):c.3024G>A (p.Pro1008=)
|
rs1215489414
|
0.00001
|
NM_001040108.2(MLH3):c.3067A>G (p.Ser1023Gly)
|
rs778414174
|
0.00001
|
NM_001040108.2(MLH3):c.3134A>G (p.Gln1045Arg)
|
rs1421629305
|
0.00001
|
NM_001040108.2(MLH3):c.3145G>A (p.Asp1049Asn)
|
rs372835460
|
0.00001
|
NM_001040108.2(MLH3):c.3190C>G (p.Leu1064Val)
|
rs774056235
|
0.00001
|
NM_001040108.2(MLH3):c.3206C>A (p.Ala1069Asp)
|
rs1892226746
|
0.00001
|
NM_001040108.2(MLH3):c.3243C>G (p.Asp1081Glu)
|
rs1471595778
|
0.00001
|
NM_001040108.2(MLH3):c.325A>G (p.Ile109Val)
|
rs1162492250
|
0.00001
|
NM_001040108.2(MLH3):c.3280+19T>C
|
rs773682420
|
0.00001
|
NM_001040108.2(MLH3):c.3280+9G>A
|
rs766230638
|
0.00001
|
NM_001040108.2(MLH3):c.3288G>C (p.Gln1096His)
|
rs749573128
|
0.00001
|
NM_001040108.2(MLH3):c.329C>T (p.Ser110Leu)
|
rs749113408
|
0.00001
|
NM_001040108.2(MLH3):c.330G>A (p.Ser110=)
|
rs189749330
|
0.00001
|
NM_001040108.2(MLH3):c.3331C>T (p.Leu1111Phe)
|
rs761143890
|
0.00001
|
NM_001040108.2(MLH3):c.3335C>T (p.Pro1112Leu)
|
rs138166592
|
0.00001
|
NM_001040108.2(MLH3):c.3382A>G (p.Thr1128Ala)
|
rs898634762
|
0.00001
|
NM_001040108.2(MLH3):c.3384T>C (p.Thr1128=)
|
rs370951929
|
0.00001
|
NM_001040108.2(MLH3):c.3386T>C (p.Val1129Ala)
|
rs202222467
|
0.00001
|
NM_001040108.2(MLH3):c.3411G>A (p.Ser1137=)
|
rs746749487
|
0.00001
|
NM_001040108.2(MLH3):c.3475G>T (p.Asp1159Tyr)
|
rs755836944
|
0.00001
|
NM_001040108.2(MLH3):c.3500G>A (p.Ser1167Asn)
|
rs769350518
|
0.00001
|
NM_001040108.2(MLH3):c.3550G>A (p.Gly1184Arg)
|
rs747888681
|
0.00001
|
NM_001040108.2(MLH3):c.3571-9G>C
|
rs1380288970
|
0.00001
|
NM_001040108.2(MLH3):c.3571G>T (p.Val1191Phe)
|
rs1420496802
|
0.00001
|
NM_001040108.2(MLH3):c.3586G>T (p.Asp1196Tyr)
|
rs1891569856
|
0.00001
|
NM_001040108.2(MLH3):c.3601G>A (p.Ala1201Thr)
|
rs144875666
|
0.00001
|
NM_001040108.2(MLH3):c.3603C>T (p.Ala1201=)
|
rs187392462
|
0.00001
|
NM_001040108.2(MLH3):c.3615C>G (p.Ser1205Arg)
|
rs1339332143
|
0.00001
|
NM_001040108.2(MLH3):c.3643+2T>C
|
rs1555343301
|
0.00001
|
NM_001040108.2(MLH3):c.3643+4A>C
|
rs373766646
|
0.00001
|
NM_001040108.2(MLH3):c.3658G>A (p.Val1220Met)
|
rs560775993
|
0.00001
|
NM_001040108.2(MLH3):c.365A>G (p.Lys122Arg)
|
rs762453215
|
0.00001
|
NM_001040108.2(MLH3):c.3680C>T (p.Ala1227Val)
|
rs770275491
|
0.00001
|
NM_001040108.2(MLH3):c.3689G>A (p.Arg1230His)
|
rs781739661
|
0.00001
|
NM_001040108.2(MLH3):c.3700G>A (p.Glu1234Lys)
|
rs1343728238
|
0.00001
|
NM_001040108.2(MLH3):c.3716-10C>T
|
rs374204567
|
0.00001
|
NM_001040108.2(MLH3):c.3745T>A (p.Ser1249Thr)
|
rs748334436
|
0.00001
|
NM_001040108.2(MLH3):c.3751C>T (p.Arg1251Trp)
|
rs754799700
|
0.00001
|
NM_001040108.2(MLH3):c.3777A>G (p.Leu1259=)
|
rs150812418
|
0.00001
|
NM_001040108.2(MLH3):c.3784C>T (p.Pro1262Ser)
|
rs372912259
|
0.00001
|
NM_001040108.2(MLH3):c.3826T>C (p.Trp1276Arg)
|
rs121908439
|
0.00001
|
NM_001040108.2(MLH3):c.3842A>G (p.Asn1281Ser)
|
rs1890990437
|
0.00001
|
NM_001040108.2(MLH3):c.3871T>C (p.Phe1291Leu)
|
rs1432917948
|
0.00001
|
NM_001040108.2(MLH3):c.3880A>G (p.Thr1294Ala)
|
rs1386608856
|
0.00001
|
NM_001040108.2(MLH3):c.3918A>G (p.Leu1306=)
|
rs773625418
|
0.00001
|
NM_001040108.2(MLH3):c.3950G>A (p.Arg1317Gln)
|
rs1434472127
|
0.00001
|
NM_001040108.2(MLH3):c.3974A>G (p.Lys1325Arg)
|
rs781013323
|
0.00001
|
NM_001040108.2(MLH3):c.3979A>G (p.Ile1327Val)
|
rs761250969
|
0.00001
|
NM_001040108.2(MLH3):c.3997C>T (p.Arg1333Ter)
|
rs1255282773
|
0.00001
|
NM_001040108.2(MLH3):c.3G>A (p.Met1Ile)
|
rs1228816377
|
0.00001
|
NM_001040108.2(MLH3):c.4012-16C>T
|
rs45498895
|
0.00001
|
NM_001040108.2(MLH3):c.4015C>T (p.Leu1339Phe)
|
rs201931206
|
0.00001
|
NM_001040108.2(MLH3):c.4027G>A (p.Gly1343Arg)
|
rs28757040
|
0.00001
|
NM_001040108.2(MLH3):c.4056T>C (p.Thr1352=)
|
rs778555314
|
0.00001
|
NM_001040108.2(MLH3):c.4183C>G (p.His1395Asp)
|
rs762922917
|
0.00001
|
NM_001040108.2(MLH3):c.4185C>T (p.His1395=)
|
rs145575075
|
0.00001
|
NM_001040108.2(MLH3):c.41G>A (p.Arg14His)
|
rs760072474
|
0.00001
|
NM_001040108.2(MLH3):c.4205C>T (p.Pro1402Leu)
|
rs776206735
|
0.00001
|
NM_001040108.2(MLH3):c.4253A>G (p.Asn1418Ser)
|
rs1258839619
|
0.00001
|
NM_001040108.2(MLH3):c.4262A>C (p.Lys1421Thr)
|
rs758153765
|
0.00001
|
NM_001040108.2(MLH3):c.4277C>T (p.Ala1426Val)
|
rs765909949
|
0.00001
|
NM_001040108.2(MLH3):c.4301A>G (p.Lys1434Arg)
|
rs772866061
|
0.00001
|
NM_001040108.2(MLH3):c.4319G>C (p.Arg1440Thr)
|
rs763372977
|
0.00001
|
NM_001040108.2(MLH3):c.4321C>T (p.Gln1441Ter)
|
rs148895027
|
0.00001
|
NM_001040108.2(MLH3):c.4360T>C (p.Ter1454Arg)
|
rs1216996898
|
0.00001
|
NM_001040108.2(MLH3):c.443T>G (p.Val148Gly)
|
rs1484161045
|
0.00001
|
NM_001040108.2(MLH3):c.45T>G (p.Ser15=)
|
rs1206903146
|
0.00001
|
NM_001040108.2(MLH3):c.481T>C (p.Cys161Arg)
|
rs368724856
|
0.00001
|
NM_001040108.2(MLH3):c.500A>G (p.Glu167Gly)
|
rs770833178
|
0.00001
|
NM_001040108.2(MLH3):c.503T>C (p.Phe168Ser)
|
rs780296518
|
0.00001
|
NM_001040108.2(MLH3):c.510G>A (p.Lys170=)
|
rs746983446
|
0.00001
|
NM_001040108.2(MLH3):c.565T>C (p.Leu189=)
|
rs757893863
|
0.00001
|
NM_001040108.2(MLH3):c.580T>G (p.Ser194Ala)
|
rs1379438361
|
0.00001
|
NM_001040108.2(MLH3):c.59G>A (p.Ser20Asn)
|
rs1269145505
|
0.00001
|
NM_001040108.2(MLH3):c.607A>G (p.Lys203Glu)
|
rs374988065
|
0.00001
|
NM_001040108.2(MLH3):c.618C>T (p.Asp206=)
|
rs762968546
|
0.00001
|
NM_001040108.2(MLH3):c.61T>C (p.Ser21Pro)
|
rs1233254643
|
0.00001
|
NM_001040108.2(MLH3):c.623G>A (p.Cys208Tyr)
|
rs759892263
|
0.00001
|
NM_001040108.2(MLH3):c.632T>C (p.Phe211Ser)
|
rs1892472757
|
0.00001
|
NM_001040108.2(MLH3):c.6C>G (p.Ile2Met)
|
rs776416749
|
0.00001
|
NM_001040108.2(MLH3):c.744T>C (p.Asn248=)
|
rs377173323
|
0.00001
|
NM_001040108.2(MLH3):c.755T>C (p.Leu252Ser)
|
rs1892461704
|
0.00001
|
NM_001040108.2(MLH3):c.807C>T (p.Asp269=)
|
rs779598518
|
0.00001
|
NM_001040108.2(MLH3):c.820A>G (p.Lys274Glu)
|
rs1892456852
|
0.00001
|
NM_001040108.2(MLH3):c.883C>T (p.Arg295Trp)
|
rs761567123
|
0.00001
|
NM_001040108.2(MLH3):c.953A>T (p.Asp318Val)
|
rs1281805197
|
0.00001
|
NM_002354.3(EPCAM):c.-192G>T
|
rs376344699
|
0.00001
|
NM_002354.3(EPCAM):c.11C>T (p.Pro4Leu)
|
rs778641299
|
0.00001
|
NM_002354.3(EPCAM):c.165T>C (p.Asn55=)
|
rs201645229
|
0.00001
|
NM_002354.3(EPCAM):c.319G>A (p.Ala107Thr)
|
rs587780765
|
0.00001
|
NM_002354.3(EPCAM):c.603A>G (p.Gln201=)
|
rs730882126
|
0.00001
|
NM_003242.6(TGFBR2):c.1153A>G (p.Ile385Val)
|
rs137908708
|
0.00001
|
NM_003242.6(TGFBR2):c.1207C>T (p.Arg403Cys)
|
rs886038960
|
0.00001
|
NM_003242.6(TGFBR2):c.1208G>A (p.Arg403His)
|
rs143095746
|
0.00001
|
NM_003242.6(TGFBR2):c.1547C>T (p.Thr516Met)
|
rs149847376
|
0.00001
|
NM_003242.6(TGFBR2):c.1643C>T (p.Ser548Leu)
|
rs755070814
|
0.00001
|
NM_003242.6(TGFBR2):c.1645G>T (p.Gly549Trp)
|
rs748418894
|
0.00001
|
NM_003242.6(TGFBR2):c.412T>G (p.Cys138Gly)
|
rs863223838
|
0.00001
|
NM_003242.6(TGFBR2):c.505G>C (p.Gly169Arg)
|
rs759362407
|
0.00001
|
NM_003242.6(TGFBR2):c.76C>T (p.Pro26Ser)
|
rs764160271
|
0.00001
|
NM_003242.6(TGFBR2):c.803C>T (p.Ser268Leu)
|
rs139078984
|
0.00001
|
NM_003242.6(TGFBR2):c.94+16293C>A
|
rs138262219
|
0.00001
|
GRCh37/hg19 2p21(chr2:47511660-47641537)x1
|
|
|
GRCh37/hg19 2p21(chr2:47547722-47641537)x1
|
|
|
GRCh37/hg19 7p22.1(chr7:6026390-6027251)x3
|
|
|
L222*
|
|
|
MHS6:c.3647-65_3647-61del
|
rs3136363
|
|
MLH1, EPIGENETICALLY SILENCED
|
|
|
MLH1, EX16DEL
|
|
|
MLH1, HYPERMETHYLATION
|
|
|
MLH1:c.(?_-198)_207+?del
|
|
|
MLH1:c.(?_-198)_306+?del
|
|
|
MSH2, 24-BP INS
|
|
|
MSH2, 32-KB DEL, EX1-6
|
|
|
MSH2, DEL 50 CODONS
|
|
|
MSH6, 1-BP DEL, 594T
|
|
|
MSH6:c.3647-51_3647-35del17
|
rs267607687
|
|
NC_000002.11:g.(?_47596287)_(47596720_?)dup
|
|
|
NC_000002.11:g.(?_47596287)_(47604216_?)dup
|
|
|
NC_000002.11:g.(?_47596287)_(47614167_?)dup
|
|
|
NC_000002.11:g.(?_47690170)_(47708011_?)del
|
|
|
NC_000002.11:g.(?_47698104)_(47710367_?)dup
|
|
|
NC_000002.11:g.(?_48010221)_(48010632_?)dup
|
|
|
NC_000002.11:g.(?_48010221)_(48032166_?)dup
|
|
|
NC_000002.11:g.47470308_47807597del
|
|
|
NC_000002.12:g.(?_47369148)_(47387028_?)del
|
|
|
NC_000002.12:g.(?_47377014)_(47377077_?)del
|
|
|
NC_000002.12:g.(?_47378953)_(47387028_?)del
|
|
|
NC_000002.12:g.(?_47403067)_(47403402_?)del
|
|
|
NC_000002.12:g.(?_47403067)_(47408555_?)del
|
|
|
NC_000002.12:g.(?_47403067)_(47483228_?)del
|
|
|
NC_000002.12:g.(?_47412414)_(47483228_?)del
|
|
|
NC_000002.12:g.(?_47482779)_(47482949_?)del
|
|
|
NC_000002.12:g.(?_47612305)_(47643568_?)del
|
|
|
NC_000002.12:g.(?_47614711)_(47657080_?)del
|
|
|
NC_000002.12:g.(?_47790927)_(47791123_?)del
|
|
|
NC_000002.12:g.(?_47790927)_(47801155_?)del
|
|
|
NC_000002.12:g.(?_47803420)_(47805027_?)del
|
|
|
NC_000002.12:g.47142010_47142443dup
|
|
|
NC_000002.12:g.47429742_47429758del
|
|
|
NC_000002.12:g.47430139_47449418del
|
|
|
NC_000002.12:g.47806204_47806207del
|
|
|
NC_000003.11:g.37089454_37101079del
|
|
|
NC_000003.12:g.(?_36996619)_(37001053_?)del
|
|
|
NC_000003.12:g.(?_37011820)_(37017599_?)del
|
|
|
NC_000007.14:g.(?_5991973)_(5999275_?)del
|
|
|
NC_000007.14:g.(?_5991973)_(6002636_?)del
|
|
|
NC_000007.14:g.(?_5991973)_(6006031_?)del
|
|
|
NC_000007.14:g.(?_5991973)_(6009106_?)del
|
|
|
NC_000007.14:g.(?_5997326)_(6004058_?)del
|
|
|
NC_000007.14:g.(?_6003690)_(6004058_?)del
|
|
|
NC_000014.8:g.(?_75483779)_(75516364_?)dup
|
|
|
NC_000014.8:g.(?_75483785)_(75516358_?)del
|
|
|
NC_000014.8:g.(?_75489507)_(75489731_?)del
|
|
|
NC_000014.8:g.(?_75497226)_(75498902_?)del
|
|
|
NC_000014.8:g.(?_75498761)_(75500203_?)del
|
|
|
NG_007111.1:g.2007_15002del
|
|
|
NM_000051.4(ATM):c.201T>G (p.Tyr67Ter)
|
rs1555055083
|
|
NM_000179.2(MSH6):c.(?_-1)_457+?del
|
|
|
NM_000179.2(MSH6):c.(?_-152)_(*93_?)del
|
|
|
NM_000179.2(MSH6):c.(?_-152)_457+?del
|
|
|
NM_000179.2(MSH6):c.*4247G>A
|
|
|
NM_000179.2(MSH6):c.-11863_457+1921del
|
|
|
NM_000179.2(MSH6):c.-152-?_4001+?dup
|
|
|
NM_000179.2(MSH6):c.-3097_457+2010del
|
|
|
NM_000179.2(MSH6):c.261-3237_3735del
|
|
|
NM_000179.2(MSH6):c.3438+797_3438+798insTATins1839_3438+797
|
|
|
NM_000179.2(MSH6):c.3439-?_3556+?del
|
|
|
NM_000179.2(MSH6):c.3557-?_(*93_?)del
|
|
|
NM_000179.2(MSH6):c.3647delG
|
rs1064795629
|
|
NM_000179.2(MSH6):c.3953_3954ins32 (p.?)
|
|
|
NM_000179.2(MSH6):c.458-?_3172+?del
|
|
|
NM_000179.2(MSH6):c.458-?_3556+?del
|
|
|
NM_000179.2(MSH6):c.458-?_4001+?del
|
|
|
NM_000179.2(MSH6):c.458-?_627+?del
|
|
|
NM_000179.3(MSH6):c.*24_*28del
|
rs587779200
|
|
NM_000179.3(MSH6):c.*34G>C
|
rs184571812
|
|
NM_000179.3(MSH6):c.-41G>T
|
rs886056140
|
|
NM_000179.3(MSH6):c.-46T>G
|
rs748339592
|
|
NM_000179.3(MSH6):c.-51G>T
|
rs375109921
|
|
NM_000179.3(MSH6):c.-6G>T
|
rs730881822
|
|
NM_000179.3(MSH6):c.1010dup (p.Leu337fs)
|
|
|
NM_000179.3(MSH6):c.1012A>T (p.Arg338Ter)
|
rs1114167804
|
|
NM_000179.3(MSH6):c.1021T>G (p.Ser341Ala)
|
rs1558660119
|
|
NM_000179.3(MSH6):c.1028dup (p.Gln344fs)
|
|
|
NM_000179.3(MSH6):c.102CGC[1] (p.Ala37del)
|
rs1553408197
|
|
NM_000179.3(MSH6):c.1030C>T (p.Gln344Ter)
|
rs730881815
|
|
NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe)
|
rs567785169
|
|
NM_000179.3(MSH6):c.1039G>T (p.Glu347Ter)
|
rs1669287624
|
|
NM_000179.3(MSH6):c.1039_1040insC (p.Glu347fs)
|
rs1553412441
|
|
NM_000179.3(MSH6):c.1045C>T (p.Gln349Ter)
|
rs863224473
|
|
NM_000179.3(MSH6):c.1046A>G (p.Gln349Arg)
|
rs869312797
|
|
NM_000179.3(MSH6):c.104C>T (p.Ala35Val)
|
rs776547943
|
|
NM_000179.3(MSH6):c.1059_1063del (p.Ser353fs)
|
rs786202336
|
|
NM_000179.3(MSH6):c.1085del (p.Pro362fs)
|
rs267608056
|
|
NM_000179.3(MSH6):c.1093T>C (p.Trp365Arg)
|
rs752628520
|
|
NM_000179.3(MSH6):c.1093_1099dup (p.His367fs)
|
rs1572721655
|
|
NM_000179.3(MSH6):c.1093dup (p.Trp365fs)
|
|
|
NM_000179.3(MSH6):c.1095G>A (p.Trp365Ter)
|
rs1272484865
|
|
NM_000179.3(MSH6):c.1100A>G (p.His367Arg)
|
rs1553412495
|
|
NM_000179.3(MSH6):c.1101del (p.His367fs)
|
rs587779203
|
|
NM_000179.3(MSH6):c.1102G>T (p.Glu368Ter)
|
|
|
NM_000179.3(MSH6):c.1102_1162dup (p.His388delinsArgAsnPheArgMetAlaTer)
|
rs1553412502
|
|
NM_000179.3(MSH6):c.1103A>G (p.Glu368Gly)
|
rs1572721697
|
|
NM_000179.3(MSH6):c.1108_1109del (p.Leu370fs)
|
rs786204252
|
|
NM_000179.3(MSH6):c.1109T>C (p.Leu370Ser)
|
rs587779204
|
|
NM_000179.3(MSH6):c.1111G>C (p.Glu371Gln)
|
|
|
NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter)
|
rs1114167731
|
|
NM_000179.3(MSH6):c.1120A>G (p.Lys374Glu)
|
rs1558660575
|
|
NM_000179.3(MSH6):c.1128_1132del (p.Arg378_Arg379insTer)
|
rs1114167801
|
|
NM_000179.3(MSH6):c.1129A>T (p.Lys377Ter)
|
|
|
NM_000179.3(MSH6):c.1133_1134del (p.Arg378fs)
|
rs2104321566
|
|
NM_000179.3(MSH6):c.1134_1135del (p.Arg379_Asp380insTer)
|
rs876660549
|
|
NM_000179.3(MSH6):c.1135A>T (p.Arg379Ter)
|
rs1432436629
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
NM_000179.3(MSH6):c.1139_1143del (p.Asp380fs)
|
rs587779206
|
|
NM_000179.3(MSH6):c.1141G>T (p.Glu381Ter)
|
|
|
NM_000179.3(MSH6):c.1141del (p.Glu381fs)
|
|
|
NM_000179.3(MSH6):c.114del (p.Ala40fs)
|
rs1558644995
|
|
NM_000179.3(MSH6):c.1150dup (p.Arg384fs)
|
|
|
NM_000179.3(MSH6):c.1153del (p.Arg385fs)
|
|
|
NM_000179.3(MSH6):c.115G>C (p.Gly39Arg)
|
rs751838296
|
|
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs)
|
rs863225398
|
|
NM_000179.3(MSH6):c.1173del (p.Phe391fs)
|
|
|
NM_000179.3(MSH6):c.1176_1178delinsGGAA (p.Asp392fs)
|
rs1114167718
|
|
NM_000179.3(MSH6):c.1184C>T (p.Thr395Ile)
|
rs767658494
|
|
NM_000179.3(MSH6):c.1188_1189del (p.Tyr397fs)
|
|
|
NM_000179.3(MSH6):c.1189dup (p.Tyr397fs)
|
rs1553412609
|
|
NM_000179.3(MSH6):c.118G>A (p.Ala40Thr)
|
rs754231971
|
|
NM_000179.3(MSH6):c.118del (p.Ala40fs)
|
rs2103936997
|
|
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)
|
rs63750439
|
|
NM_000179.3(MSH6):c.1191T>A (p.Tyr397Ter)
|
|
|
NM_000179.3(MSH6):c.1193T>A (p.Val398Glu)
|
rs587779208
|
|
NM_000179.3(MSH6):c.1207C>A (p.Leu403Ile)
|
rs876659223
|
|
NM_000179.3(MSH6):c.1217_1220delinsATA (p.Cys406fs)
|
|
|
NM_000179.3(MSH6):c.1233_1236del (p.Arg411fs)
|
rs2104329814
|
|
NM_000179.3(MSH6):c.1233dup (p.Lys412fs)
|
rs2104329942
|
|
NM_000179.3(MSH6):c.1234A>T (p.Lys412Ter)
|
|
|
NM_000179.3(MSH6):c.1237T>C (p.Trp413Arg)
|
rs2104330278
|
|
NM_000179.3(MSH6):c.1238G>A (p.Trp413Ter)
|
rs786201049
|
|
NM_000179.3(MSH6):c.1239G>A (p.Trp413Ter)
|
|
|
NM_000179.3(MSH6):c.123_124del (p.Pro42fs)
|
|
|
NM_000179.3(MSH6):c.1242G>A (p.Trp414Ter)
|
rs1007311950
|
|
NM_000179.3(MSH6):c.1243C>T (p.Gln415Ter)
|
rs1114167756
|
|
NM_000179.3(MSH6):c.1248del (p.Lys417fs)
|
|
|
NM_000179.3(MSH6):c.1248dup (p.Lys417Ter)
|
rs778555956
|
|
NM_000179.3(MSH6):c.1252T>C (p.Ser418Pro)
|
rs1251033858
|
|
NM_000179.3(MSH6):c.1254_1255del (p.Gln419fs)
|
rs1553412696
|
|
NM_000179.3(MSH6):c.1255C>T (p.Gln419Ter)
|
rs762814792
|
|
NM_000179.3(MSH6):c.1255_1268del (p.Gln419fs)
|
rs876661251
|
|
NM_000179.3(MSH6):c.125_132dup (p.Gly45fs)
|
rs1553408245
|
|
NM_000179.3(MSH6):c.1263_1311dup (p.Met438Ter)
|
|
|
NM_000179.3(MSH6):c.1266dup (p.Leu423fs)
|
|
|
NM_000179.3(MSH6):c.1270G>A (p.Val424Ile)
|
rs768299607
|
|
NM_000179.3(MSH6):c.1275_1276del (p.Ile425fs)
|
rs1114167774
|
|
NM_000179.3(MSH6):c.1276del (p.Cys426fs)
|
rs587779209
|
|
NM_000179.3(MSH6):c.1281C>A (p.Tyr427Ter)
|
rs1553412720
|
|
NM_000179.3(MSH6):c.1281C>G (p.Tyr427Ter)
|
rs1553412720
|
|
NM_000179.3(MSH6):c.1283dup (p.Val429fs)
|
|
|
NM_000179.3(MSH6):c.1290G>A (p.Gly430=)
|
rs1558661242
|
|
NM_000179.3(MSH6):c.1290del (p.Lys431fs)
|
rs587782809
|
|
NM_000179.3(MSH6):c.1295T>C (p.Phe432Ser)
|
rs750528093
|
|
NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu)
|
rs863224614
|
|
NM_000179.3(MSH6):c.1299T>A (p.Tyr433Ter)
|
rs267608055
|
|
NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter)
|
rs267608055
|
|
NM_000179.3(MSH6):c.1304T>C (p.Leu435Pro)
|
rs63751405
|
|
NM_000179.3(MSH6):c.1307_1310dup (p.His437fs)
|
rs2104335088
|
|
NM_000179.3(MSH6):c.1308C>A (p.Tyr436Ter)
|
rs761037236
|
|
NM_000179.3(MSH6):c.1308_1309del (p.Tyr436_His437delinsTer)
|
|
|
NM_000179.3(MSH6):c.1309dup (p.His437fs)
|
rs1558661308
|
|
NM_000179.3(MSH6):c.1312dup (p.Met438fs)
|
rs863225399
|
|
NM_000179.3(MSH6):c.1315_1318del (p.Asp439fs)
|
rs2104335533
|
|
NM_000179.3(MSH6):c.131del (p.Pro44fs)
|
|
|
NM_000179.3(MSH6):c.1321C>G (p.Leu441Val)
|
rs1553412749
|
|
NM_000179.3(MSH6):c.1324_1366dup (p.Trp456delinsTyrTrpSerGlnTer)
|
|
|
NM_000179.3(MSH6):c.1324dup (p.Ile442fs)
|
|
|
NM_000179.3(MSH6):c.1326del (p.Ile442fs)
|
rs1558661380
|
|
NM_000179.3(MSH6):c.1333_1334del (p.Val444_Ser445insTer)
|
rs1060502940
|
|
NM_000179.3(MSH6):c.1334G>C (p.Ser445Thr)
|
|
|
NM_000179.3(MSH6):c.1338A>T (p.Glu446Asp)
|
rs587779211
|
|
NM_000179.3(MSH6):c.1339dup (p.Leu447fs)
|
rs2104337509
|
|
NM_000179.3(MSH6):c.133G>T (p.Gly45Cys)
|
rs978968846
|
|
NM_000179.3(MSH6):c.1345dup (p.Leu449fs)
|
rs2104337976
|
|
NM_000179.3(MSH6):c.1347G>A (p.Leu449=)
|
rs786201760
|
|
NM_000179.3(MSH6):c.1347_1372dup (p.His458delinsArgTyrSerTer)
|
|
|
NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs)
|
rs878853702
|
|
NM_000179.3(MSH6):c.1352del (p.Phe451fs)
|
rs869312769
|
|
NM_000179.3(MSH6):c.1357A>T (p.Lys453Ter)
|
rs1669323917
|
|
NM_000179.3(MSH6):c.1367G>A (p.Trp456Ter)
|
rs587780538
|
|
NM_000179.3(MSH6):c.1368G>A (p.Trp456Ter)
|
rs1572722737
|
|
NM_000179.3(MSH6):c.136G>C (p.Gly46Arg)
|
rs863224616
|
|
NM_000179.3(MSH6):c.136_158del (p.Gly46fs)
|
|
|
NM_000179.3(MSH6):c.1383dup (p.Pro462fs)
|
rs1553412804
|
|
NM_000179.3(MSH6):c.1387G>T (p.Glu463Ter)
|
rs864622435
|
|
NM_000179.3(MSH6):c.1390del (p.Ile464fs)
|
|
|
NM_000179.3(MSH6):c.1392del (p.Ile464fs)
|
rs2104340974
|
|
NM_000179.3(MSH6):c.1400G>A (p.Gly467Asp)
|
rs1558661547
|
|
NM_000179.3(MSH6):c.1401C>T (p.Gly467=)
|
rs1558661556
|
|
NM_000179.3(MSH6):c.1406A>G (p.Tyr469Cys)
|
rs748165218
|
|
NM_000179.3(MSH6):c.1406del (p.Tyr469fs)
|
|
|
NM_000179.3(MSH6):c.1406delinsTG (p.Tyr469fs)
|
|
|
NM_000179.3(MSH6):c.1406dup (p.Tyr469Ter)
|
|
|
NM_000179.3(MSH6):c.1407T>G (p.Tyr469Ter)
|
|
|
NM_000179.3(MSH6):c.1417del (p.Leu473fs)
|
rs1553412824
|
|
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs)
|
rs63750854
|
|
NM_000179.3(MSH6):c.1423C>T (p.Gln475Ter)
|
rs1553412835
|
|
NM_000179.3(MSH6):c.1426_1427insGGGCCGTTATTCAGATTCCCTGGTGCAGA (p.Lys476fs)
|
|
|
NM_000179.3(MSH6):c.1430dup (p.Tyr478fs)
|
rs1114167746
|
|
NM_000179.3(MSH6):c.1437del (p.Lys479_Val480insTer)
|
|
|
NM_000179.3(MSH6):c.1439T>A (p.Val480Glu)
|
rs1244531716
|
|
NM_000179.3(MSH6):c.1444C>G (p.Arg482Gly)
|
rs63750909
|
|
NM_000179.3(MSH6):c.1445G>C (p.Arg482Pro)
|
rs773226008
|
|
NM_000179.3(MSH6):c.1449_1450delinsCT (p.Glu484Ter)
|
|
|
NM_000179.3(MSH6):c.1449_1462delinsAGC (p.Glu484fs)
|
rs1114167715
|
|
NM_000179.3(MSH6):c.1450G>T (p.Glu484Ter)
|
rs587782706
|
|
NM_000179.3(MSH6):c.1453C>T (p.Gln485Ter)
|
rs1114167803
|
|
NM_000179.3(MSH6):c.1458_1459del (p.Glu487fs)
|
rs1114167750
|
|
NM_000179.3(MSH6):c.1463del (p.Thr488fs)
|
|
|
NM_000179.3(MSH6):c.1468G>T (p.Glu490Ter)
|
|
|
NM_000179.3(MSH6):c.1471ATG[1] (p.Met492del)
|
rs587782576
|
|
NM_000179.3(MSH6):c.1477G>T (p.Glu493Ter)
|
rs267608046
|
|
NM_000179.3(MSH6):c.1480G>T (p.Ala494Ser)
|
rs758699749
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.1492_1517dup (p.Asp506fs)
|
|
|
NM_000179.3(MSH6):c.1501C>G (p.His501Asp)
|
rs779411998
|
|
NM_000179.3(MSH6):c.1503T>G (p.His501Gln)
|
rs1572723237
|
|
NM_000179.3(MSH6):c.1507_1519dup (p.Arg507delinsIleGlnValTer)
|
|
|
NM_000179.3(MSH6):c.1508C>T (p.Ser503Phe)
|
rs63750897
|
|
NM_000179.3(MSH6):c.150G>T (p.Trp50Cys)
|
rs876659674
|
|
NM_000179.3(MSH6):c.1510A>C (p.Lys504Gln)
|
rs1553412902
|
|
NM_000179.3(MSH6):c.1510A>T (p.Lys504Ter)
|
|
|
NM_000179.3(MSH6):c.1515T>G (p.Tyr505Ter)
|
rs878853704
|
|
NM_000179.3(MSH6):c.1519dup (p.Arg507fs)
|
rs876658881
|
|
NM_000179.3(MSH6):c.151_167del (p.Ser51fs)
|
|
|
NM_000179.3(MSH6):c.151_167dup (p.Pro57fs)
|
rs1553408267
|
|
NM_000179.3(MSH6):c.1528AGG[1] (p.Arg511del)
|
rs993163672
|
|
NM_000179.3(MSH6):c.1538T>C (p.Ile513Thr)
|
rs1060502908
|
|
NM_000179.3(MSH6):c.154G>T (p.Glu52Ter)
|
rs1114167719
|
|
NM_000179.3(MSH6):c.1559G>A (p.Gly520Asp)
|
rs1669344619
|
|
NM_000179.3(MSH6):c.1560T>C (p.Gly520=)
|
rs762396230
|
|
NM_000179.3(MSH6):c.1564C>T (p.Gln522Ter)
|
|
|
NM_000179.3(MSH6):c.1564_1565del (p.Gln522fs)
|
|
|
NM_000179.3(MSH6):c.1569_1572del (p.Tyr524fs)
|
rs2104352046
|
|
NM_000179.3(MSH6):c.1570_1571insC (p.Tyr524fs)
|
rs878853709
|
|
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter)
|
rs1553412966
|
|
NM_000179.3(MSH6):c.1572C>A (p.Tyr524Ter)
|
rs587779215
|
|
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)
|
rs587779215
|
|
NM_000179.3(MSH6):c.1572_1573del (p.Tyr524_Ser525delinsTer)
|
rs1114167702
|
|
NM_000179.3(MSH6):c.1572del (p.Thr523_Tyr524insTer)
|
|
|
NM_000179.3(MSH6):c.1573A>G (p.Ser525Gly)
|
rs1572723488
|
|
NM_000179.3(MSH6):c.1574_3439-428dup
|
|
|
NM_000179.3(MSH6):c.1577_1578del (p.Val526fs)
|
|
|
NM_000179.3(MSH6):c.1580del (p.Leu527fs)
|
rs63751090
|
|
NM_000179.3(MSH6):c.1590del (p.Ser532fs)
|
rs587779216
|
|
NM_000179.3(MSH6):c.1593_1596del (p.Ser532fs)
|
|
|
NM_000179.3(MSH6):c.1594dup (p.Ser532fs)
|
|
|
NM_000179.3(MSH6):c.1596_1597del (p.Asn534fs)
|
rs1064794388
|
|
NM_000179.3(MSH6):c.1596dup (p.Glu533Ter)
|
rs587779217
|
|
NM_000179.3(MSH6):c.1597G>T (p.Glu533Ter)
|
|
|
NM_000179.3(MSH6):c.159_171del (p.Gly56fs)
|
|
|
NM_000179.3(MSH6):c.1602C>G (p.Asn534Lys)
|
rs763712971
|
|
NM_000179.3(MSH6):c.1602del (p.Tyr535fs)
|
rs63751234
|
|
NM_000179.3(MSH6):c.1605C>G (p.Tyr535Ter)
|
|
|
NM_000179.3(MSH6):c.1606_1607del (p.Tyr535_Ser536insTer)
|
|
|
NM_000179.3(MSH6):c.1608dup (p.Lys537Ter)
|
rs1572723640
|
|
NM_000179.3(MSH6):c.1609A>T (p.Lys537Ter)
|
|
|
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs)
|
rs863224829
|
|
NM_000179.3(MSH6):c.1613_1616del (p.Tyr538fs)
|
rs1669352196
|
|
NM_000179.3(MSH6):c.1614_1615delinsAG (p.Tyr538_Leu539delinsTer)
|
rs267608049
|
|
NM_000179.3(MSH6):c.1614_1615delinsG (p.Tyr538_Leu539delinsTer)
|
rs587779218
|
|
NM_000179.3(MSH6):c.1615CTT[1] (p.Leu540del)
|
rs1064793600
|
|
NM_000179.3(MSH6):c.1619_1620del (p.Leu540fs)
|
rs1553413006
|
|
NM_000179.3(MSH6):c.1621A>C (p.Ser541Arg)
|
rs587779778
|
|
NM_000179.3(MSH6):c.1627A>T (p.Lys543Ter)
|
|
|
NM_000179.3(MSH6):c.1628_1629del (p.Lys543fs)
|
rs587779219
|
|
NM_000179.3(MSH6):c.1630_1633del (p.Glu544fs)
|
rs1572723723
|
|
NM_000179.3(MSH6):c.1632_1635del (p.Lys545fs)
|
rs267608064
|
|
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs)
|
rs267608064
|
|
NM_000179.3(MSH6):c.1634_1637del (p.Lys545fs)
|
rs63749874
|
|
NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs)
|
rs267608076
|
|
NM_000179.3(MSH6):c.1641dup (p.Asp548fs)
|
|
|
NM_000179.3(MSH6):c.1645del (p.Ser549fs)
|
rs876661033
|
|
NM_000179.3(MSH6):c.1646_1649del (p.Ser549fs)
|
|
|
NM_000179.3(MSH6):c.164_177del (p.Pro55fs)
|
rs1558645195
|
|
NM_000179.3(MSH6):c.164_182del (p.Pro55fs)
|
|
|
NM_000179.3(MSH6):c.1651G>A (p.Gly551Ser)
|
rs1558662449
|
|
NM_000179.3(MSH6):c.1657A>C (p.Thr553Pro)
|
rs1294509946
|
|
NM_000179.3(MSH6):c.1658dup (p.Arg554fs)
|
|
|
NM_000179.3(MSH6):c.1666T>C (p.Tyr556His)
|
rs1060502895
|
|
NM_000179.3(MSH6):c.1667A>T (p.Tyr556Phe)
|
rs63751312
|
|
NM_000179.3(MSH6):c.1669G>A (p.Gly557Ser)
|
rs1553413048
|
|
NM_000179.3(MSH6):c.1670G>A (p.Gly557Asp)
|
rs1553413050
|
|
NM_000179.3(MSH6):c.1675T>C (p.Cys559Arg)
|
rs1558662565
|
|
NM_000179.3(MSH6):c.1677C>A (p.Cys559Ter)
|
|
|
NM_000179.3(MSH6):c.1686_1687dup (p.Thr563fs)
|
|
|
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)
|
rs864622153
|
|
NM_000179.3(MSH6):c.1691C>G (p.Ser564Ter)
|
rs864622153
|
|
NM_000179.3(MSH6):c.1696G>T (p.Gly566Ter)
|
rs63749973
|
|
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs)
|
rs587783056
|
|
NM_000179.3(MSH6):c.170_182del (p.Pro57fs)
|
rs876658296
|
|
NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter)
|
rs1064795256
|
|
NM_000179.3(MSH6):c.171del (p.Arg58fs)
|
rs1553408306
|
|
NM_000179.3(MSH6):c.1729del (p.Arg577fs)
|
rs2104363773
|
|
NM_000179.3(MSH6):c.1738del (p.Ser580fs)
|
rs1553413116
|
|
NM_000179.3(MSH6):c.1739C>A (p.Ser580Ter)
|
rs41295270
|
|
NM_000179.3(MSH6):c.1742_1743del (p.Arg581fs)
|
|
|
NM_000179.3(MSH6):c.1746dup (p.Arg583Ter)
|
rs863224474
|
|
NM_000179.3(MSH6):c.1751dup (p.Leu585fs)
|
|
|
NM_000179.3(MSH6):c.1753_1754del (p.Leu585fs)
|
|
|
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)
|
rs587779220
|
|
NM_000179.3(MSH6):c.1754_1772del (p.Leu585fs)
|
|
|
NM_000179.3(MSH6):c.175C>A (p.Pro59Thr)
|
rs761033647
|
|
NM_000179.3(MSH6):c.1762_1763insT (p.His588fs)
|
rs1553413138
|
|
NM_000179.3(MSH6):c.1763A>G (p.His588Arg)
|
rs786202725
|
|
NM_000179.3(MSH6):c.1767T>A (p.Tyr589Ter)
|
rs1558662873
|
|
NM_000179.3(MSH6):c.1767del (p.Pro591fs)
|
rs1114167765
|
|
NM_000179.3(MSH6):c.1770C>T (p.Pro590=)
|
rs267608070
|
|
NM_000179.3(MSH6):c.1772del (p.Pro591fs)
|
rs786202108
|
|
NM_000179.3(MSH6):c.1777C>T (p.Gln593Ter)
|
|
|
NM_000179.3(MSH6):c.1784T>G (p.Leu595Ter)
|
|
|
NM_000179.3(MSH6):c.1784del (p.Leu595fs)
|
rs267608050
|
|
NM_000179.3(MSH6):c.1786T>A (p.Phe596Ile)
|
rs587779918
|
|
NM_000179.3(MSH6):c.1789G>T (p.Glu597Ter)
|
rs1553413178
|
|
NM_000179.3(MSH6):c.1793A>G (p.Lys598Arg)
|
rs587779919
|
|
NM_000179.3(MSH6):c.1794dup (p.Gly599fs)
|
rs587780670
|
|
NM_000179.3(MSH6):c.1795G>T (p.Gly599Ter)
|
rs756043669
|
|
NM_000179.3(MSH6):c.1796_1797del (p.Gly599fs)
|
rs2104368213
|
|
NM_000179.3(MSH6):c.179dup (p.Leu60fs)
|
|
|
NM_000179.3(MSH6):c.1804_1805del (p.Ser602fs)
|
rs1114167766
|
|
NM_000179.3(MSH6):c.1805C>A (p.Ser602Ter)
|
rs730881816
|
|
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter)
|
rs730881816
|
|
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs)
|
rs63750735
|
|
NM_000179.3(MSH6):c.1809_1813del (p.Lys603fs)
|
|
|
NM_000179.3(MSH6):c.1810G>T (p.Glu604Ter)
|
|
|
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs)
|
rs1060502886
|
|
NM_000179.3(MSH6):c.1819dup (p.Thr607fs)
|
rs587779221
|
|
NM_000179.3(MSH6):c.1820C>G (p.Thr607Arg)
|
rs786201676
|
|
NM_000179.3(MSH6):c.1828_1829del (p.Lys610fs)
|
|
|
NM_000179.3(MSH6):c.1829del (p.Lys610fs)
|
|
|
NM_000179.3(MSH6):c.1835C>A (p.Ser612Ter)
|
rs63750564
|
|
NM_000179.3(MSH6):c.1836dup (p.Leu613fs)
|
rs1669381138
|
|
NM_000179.3(MSH6):c.183G>C (p.Ala61=)
|
rs1060504757
|
|
NM_000179.3(MSH6):c.1842del (p.Cys615fs)
|
rs730881825
|
|
NM_000179.3(MSH6):c.1844_1848del (p.Cys615fs)
|
|
|
NM_000179.3(MSH6):c.1847C>G (p.Ser616Cys)
|
rs772363120
|
|
NM_000179.3(MSH6):c.184C>T (p.Arg62Cys)
|
rs876659508
|
|
NM_000179.3(MSH6):c.1852C>T (p.Gln618Ter)
|
|
|
NM_000179.3(MSH6):c.1859del (p.Gly620fs)
|
|
|
NM_000179.3(MSH6):c.1866_1887del (p.Ile622fs)
|
|
|
NM_000179.3(MSH6):c.1866dup (p.Pro623fs)
|
rs2104372581
|
|
NM_000179.3(MSH6):c.1869del (p.Gly624fs)
|
rs71539659
|
|
NM_000179.3(MSH6):c.1871del (p.Gly624fs)
|
rs777159874
|
|
NM_000179.3(MSH6):c.1882del (p.Trp628fs)
|
|
|
NM_000179.3(MSH6):c.1883G>A (p.Trp628Ter)
|
rs863225401
|
|
NM_000179.3(MSH6):c.188C>A (p.Ser63Tyr)
|
rs587779920
|
|
NM_000179.3(MSH6):c.189C>T (p.Ser63=)
|
rs917331457
|
|
NM_000179.3(MSH6):c.1900_1901del (p.Leu634fs)
|
rs587782638
|
|
NM_000179.3(MSH6):c.1901T>A (p.Leu634Ter)
|
rs63751097
|
|
NM_000179.3(MSH6):c.1901_1902del (p.Thr633_Leu634insTer)
|
rs267608082
|
|
NM_000179.3(MSH6):c.1901dup (p.Leu634fs)
|
rs587782638
|
|
NM_000179.3(MSH6):c.1904G>A (p.Arg635Lys)
|
rs1558663439
|
|
NM_000179.3(MSH6):c.1910T>C (p.Leu637Pro)
|
rs1553413288
|
|
NM_000179.3(MSH6):c.1910_1911del (p.Leu637fs)
|
rs1669391378
|
|
NM_000179.3(MSH6):c.1912del (p.Glu639fs)
|
rs1553413294
|
|
NM_000179.3(MSH6):c.1918del (p.Glu640fs)
|
|
|
NM_000179.3(MSH6):c.1921G>T (p.Glu641Ter)
|
rs1553413305
|
|
NM_000179.3(MSH6):c.1926_1930del (p.Tyr642_Arg644delinsTer)
|
rs2104376613
|
|
NM_000179.3(MSH6):c.1933G>T (p.Glu645Ter)
|
rs1064795591
|
|
NM_000179.3(MSH6):c.1933_1949del (p.Glu645fs)
|
rs1669395325
|
|
NM_000179.3(MSH6):c.1933del (p.Glu645fs)
|
rs1558663559
|
|
NM_000179.3(MSH6):c.1937del (p.Lys646fs)
|
rs1114167747
|
|
NM_000179.3(MSH6):c.1939_1948del (p.Leu647fs)
|
rs2104377567
|
|
NM_000179.3(MSH6):c.193_196delinsCTT (p.Ser65fs)
|
|
|
NM_000179.3(MSH6):c.1940dup (p.Ser648fs)
|
|
|
NM_000179.3(MSH6):c.194C>A (p.Ser65Ter)
|
|
|
NM_000179.3(MSH6):c.194C>G (p.Ser65Ter)
|
|
|
NM_000179.3(MSH6):c.1951_1952dup (p.Gly652fs)
|
rs2104378465
|
|
NM_000179.3(MSH6):c.1957_1960dup (p.Met654fs)
|
rs63751167
|
|
NM_000179.3(MSH6):c.1965dup (p.Pro656fs)
|
|
|
NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter)
|
rs1114167709
|
|
NM_000179.3(MSH6):c.1969del (p.Gln657fs)
|
rs876661205
|
|
NM_000179.3(MSH6):c.1975_1976insCT (p.Leu659fs)
|
|
|
NM_000179.3(MSH6):c.1990T>G (p.Ser664Ala)
|
rs1558663809
|
|
NM_000179.3(MSH6):c.1990dup (p.Ser664fs)
|
|
|
NM_000179.3(MSH6):c.1991_1992del (p.Thr663_Ser664insTer)
|
rs2104380945
|
|
NM_000179.3(MSH6):c.1993G>T (p.Glu665Ter)
|
rs1333555322
|
|
NM_000179.3(MSH6):c.1994_1995del (p.Glu665fs)
|
rs1114167694
|
|
NM_000179.3(MSH6):c.1997_1998del (p.Glu665_Ser666insTer)
|
rs1572725235
|
|
NM_000179.3(MSH6):c.1998dup (p.Asp667Ter)
|
|
|
NM_000179.3(MSH6):c.2010del (p.Gly670_Leu671insTer)
|
rs1060502918
|
|
NM_000179.3(MSH6):c.2013G>A (p.Leu671=)
|
rs765289515
|
|
NM_000179.3(MSH6):c.2020_2057del (p.Gly674fs)
|
|
|
NM_000179.3(MSH6):c.2028_2029del (p.Lys676_Ser677insTer)
|
rs1064794055
|
|
NM_000179.3(MSH6):c.2036T>A (p.Leu679Ter)
|
|
|
NM_000179.3(MSH6):c.2036_2042delinsGG (p.Leu679fs)
|
rs876658864
|
|
NM_000179.3(MSH6):c.203del (p.Lys68fs)
|
|
|
NM_000179.3(MSH6):c.2045_2046del (p.Ser682fs)
|
rs267608057
|
|
NM_000179.3(MSH6):c.2050_2051dup (p.Leu684_Gly685insTer)
|
rs587779226
|
|
NM_000179.3(MSH6):c.2050del (p.Ala683_Leu684insTer)
|
rs1553413424
|
|
NM_000179.3(MSH6):c.2056_2060delinsCTTCTACCTCAAAAA (p.Gly686fs)
|
rs878853711
|
|
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)
|
rs267608068
|
|
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs)
|
rs63750075
|
|
NM_000179.3(MSH6):c.2062_2147del (p.Val688fs)
|
|
|
NM_000179.3(MSH6):c.2067del (p.Tyr690fs)
|
|
|
NM_000179.3(MSH6):c.2074A>T (p.Lys692Ter)
|
|
|
NM_000179.3(MSH6):c.2075A>G (p.Lys692Arg)
|
rs975991506
|
|
NM_000179.3(MSH6):c.2079del (p.Lys693fs)
|
rs267608083
|
|
NM_000179.3(MSH6):c.2079dup (p.Cys694fs)
|
rs267608083
|
|
NM_000179.3(MSH6):c.2080T>C (p.Cys694Arg)
|
rs587779228
|
|
NM_000179.3(MSH6):c.2082C>A (p.Cys694Ter)
|
rs1114167791
|
|
NM_000179.3(MSH6):c.2087T>C (p.Ile696Thr)
|
rs587779229
|
|
NM_000179.3(MSH6):c.2087_2093del (p.Ile696fs)
|
rs1114167733
|
|
NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter)
|
rs63750832
|
|
NM_000179.3(MSH6):c.2095G>T (p.Glu699Ter)
|
rs1553413470
|
|
NM_000179.3(MSH6):c.2098C>A (p.Leu700Ile)
|
rs587779230
|
|
NM_000179.3(MSH6):c.2100_2105delinsA (p.Leu701fs)
|
|
|
NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter)
|
rs63751419
|
|
NM_000179.3(MSH6):c.2117T>C (p.Phe706Ser)
|
rs587779231
|
|
NM_000179.3(MSH6):c.2118del (p.Phe706fs)
|
rs1572725803
|
|
NM_000179.3(MSH6):c.2122G>T (p.Glu708Ter)
|
rs1064795960
|
|
NM_000179.3(MSH6):c.2124_2126dup (p.Tyr709Ter)
|
rs1558664335
|
|
NM_000179.3(MSH6):c.2125dup (p.Tyr709fs)
|
rs587781650
|
|
NM_000179.3(MSH6):c.2127T>A (p.Tyr709Ter)
|
rs587779232
|
|
NM_000179.3(MSH6):c.2137del (p.Asp713fs)
|
rs864622257
|
|
NM_000179.3(MSH6):c.2147_2148del (p.Thr716fs)
|
rs786204048
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
NM_000179.3(MSH6):c.2159del (p.Thr720fs)
|
|
|
NM_000179.3(MSH6):c.215_258del (p.Leu72fs)
|
rs1553408380
|
|
NM_000179.3(MSH6):c.2161A>C (p.Arg721=)
|
rs537604099
|
|
NM_000179.3(MSH6):c.2180C>T (p.Thr727Ile)
|
rs767861096
|
|
NM_000179.3(MSH6):c.2183A>G (p.Lys728Arg)
|
rs35552856
|
|
NM_000179.3(MSH6):c.2187C>T (p.Ala729=)
|
rs375610656
|
|
NM_000179.3(MSH6):c.2188dup (p.Tyr730fs)
|
|
|
NM_000179.3(MSH6):c.2191C>T (p.Gln731Ter)
|
rs63751442
|
|
NM_000179.3(MSH6):c.2194C>A (p.Arg732=)
|
rs63751127
|
|
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)
|
rs63751127
|
|
NM_000179.3(MSH6):c.2194_2197del (p.Arg732fs)
|
rs1669432834
|
|
NM_000179.3(MSH6):c.2195G>A (p.Arg732Gln)
|
rs749746725
|
|
NM_000179.3(MSH6):c.2199_2200del (p.Met733fs)
|
|
|
NM_000179.3(MSH6):c.2203C>A (p.Leu735Ile)
|
rs786204071
|
|
NM_000179.3(MSH6):c.2219T>G (p.Leu740Ter)
|
rs745483465
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
NM_000179.3(MSH6):c.2234T>A (p.Ile745Asn)
|
rs1558664787
|
|
NM_000179.3(MSH6):c.2235T>G (p.Ile745Met)
|
rs556339046
|
|
NM_000179.3(MSH6):c.2238T>C (p.Phe746=)
|
rs1384756767
|
|
NM_000179.3(MSH6):c.2238dup (p.Leu747fs)
|
rs1553413599
|
|
NM_000179.3(MSH6):c.2239del (p.Phe746_Leu747insTer)
|
rs1572726309
|
|
NM_000179.3(MSH6):c.2260dup (p.Thr754fs)
|
rs1553413640
|
|
NM_000179.3(MSH6):c.2263_2273del (p.Glu755fs)
|
|
|
NM_000179.3(MSH6):c.2269_2270del (p.Thr757fs)
|
rs876661025
|
|
NM_000179.3(MSH6):c.2275C>G (p.Leu759Val)
|
rs1669442548
|
|
NM_000179.3(MSH6):c.2275del (p.Leu758_Leu759insTer)
|
|
|
NM_000179.3(MSH6):c.2275dup (p.Leu759fs)
|
rs2104397838
|
|
NM_000179.3(MSH6):c.2281_2282del (p.Arg761fs)
|
rs1114167721
|
|
NM_000179.3(MSH6):c.2282G>A (p.Arg761Lys)
|
rs587779233
|
|
NM_000179.3(MSH6):c.2284dup (p.Val762fs)
|
|
|
NM_000179.3(MSH6):c.2287G>A (p.Asp763Asn)
|
rs1558664969
|
|
NM_000179.3(MSH6):c.2287_2404dup (p.Pro802delinsArgTyrLeuProTyrSerPheTrpTer)
|
|
|
NM_000179.3(MSH6):c.2290dup (p.Thr764fs)
|
rs1553413663
|
|
NM_000179.3(MSH6):c.2291del (p.Thr764fs)
|
|
|
NM_000179.3(MSH6):c.2295C>A (p.Cys765Ter)
|
rs63750985
|
|
NM_000179.3(MSH6):c.2296dup (p.His766fs)
|
rs1114167712
|
|
NM_000179.3(MSH6):c.2298T>G (p.His766Gln)
|
rs768535330
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
NM_000179.3(MSH6):c.2308G>T (p.Gly770Cys)
|
|
|
NM_000179.3(MSH6):c.2308_2312delinsT (p.Gly770fs)
|
rs864622585
|
|
NM_000179.3(MSH6):c.2312A>T (p.Lys771Met)
|
rs864622586
|
|
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)
|
rs63750138
|
|
NM_000179.3(MSH6):c.2318T>C (p.Leu773Pro)
|
rs863224623
|
|
NM_000179.3(MSH6):c.2319C>A (p.Leu773=)
|
rs63749895
|
|
NM_000179.3(MSH6):c.2326C>T (p.Gln776Ter)
|
|
|
NM_000179.3(MSH6):c.2329_2330insA (p.Trp777Ter)
|
|
|
NM_000179.3(MSH6):c.2330G>A (p.Trp777Ter)
|
rs587779234
|
|
NM_000179.3(MSH6):c.2331G>A (p.Trp777Ter)
|
rs876660037
|
|
NM_000179.3(MSH6):c.2332_2335dup (p.Cys779fs)
|
|
|
NM_000179.3(MSH6):c.2335dup (p.Cys779fs)
|
rs2104401401
|
|
NM_000179.3(MSH6):c.2337T>A (p.Cys779Ter)
|
rs1553413707
|
|
NM_000179.3(MSH6):c.2338_2339del (p.Ala780fs)
|
|
|
NM_000179.3(MSH6):c.233_254dup (p.Thr86fs)
|
rs1553408413
|
|
NM_000179.3(MSH6):c.2341C>A (p.Pro781Thr)
|
rs587779235
|
|
NM_000179.3(MSH6):c.2342C>T (p.Pro781Leu)
|
rs1553413710
|
|
NM_000179.3(MSH6):c.2346_2347del (p.Leu782_Cys783insTer)
|
rs1669451548
|
|
NM_000179.3(MSH6):c.2348_2349del (p.Leu782_Cys783insTer)
|
rs267608065
|
|
NM_000179.3(MSH6):c.2354_2355insAGCATTGGCTTTGTGCCCCACTCTGTAACCA (p.His785delinsGlnAlaLeuAlaLeuCysProThrLeuTer)
|
rs876661193
|
|
NM_000179.3(MSH6):c.2365A>C (p.Asn789His)
|
rs2104402954
|
|
NM_000179.3(MSH6):c.236C>A (p.Ser79Ter)
|
|
|
NM_000179.3(MSH6):c.2379_2380del (p.Ala794fs)
|
rs587779237
|
|
NM_000179.3(MSH6):c.2386G>T (p.Glu796Ter)
|
rs1558665297
|
|
NM_000179.3(MSH6):c.2386_2387del (p.Glu796fs)
|
|
|
NM_000179.3(MSH6):c.2403dup (p.Pro802fs)
|
|
|
NM_000179.3(MSH6):c.2407G>C (p.Asp803His)
|
rs1553413770
|
|
NM_000179.3(MSH6):c.2412_2413del (p.Lys804fs)
|
rs2104405276
|
|
NM_000179.3(MSH6):c.2415C>T (p.Ile805=)
|
rs1219649543
|
|
NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter)
|
rs587779923
|
|
NM_000179.3(MSH6):c.2419dup (p.Glu807fs)
|
rs1553413784
|
|
NM_000179.3(MSH6):c.2420_2421del (p.Glu807fs)
|
|
|
NM_000179.3(MSH6):c.2426T>C (p.Val809Ala)
|
rs775815297
|
|
NM_000179.3(MSH6):c.2429del (p.Glu810fs)
|
rs1572727176
|
|
NM_000179.3(MSH6):c.2437_2440delinsTT (p.Lys813fs)
|
|
|
NM_000179.3(MSH6):c.2440A>T (p.Lys814Ter)
|
|
|
NM_000179.3(MSH6):c.2441dup (p.Leu815fs)
|
|
|
NM_000179.3(MSH6):c.2479A>G (p.Asn827Asp)
|
rs878853716
|
|
NM_000179.3(MSH6):c.2480A>C (p.Asn827Thr)
|
rs1558665569
|
|
NM_000179.3(MSH6):c.2482G>A (p.Val828Ile)
|
rs587781349
|
|
NM_000179.3(MSH6):c.2497_2501del (p.Lys833fs)
|
|
|
NM_000179.3(MSH6):c.249T>G (p.Ala83=)
|
rs876658308
|
|
NM_000179.3(MSH6):c.24C>A (p.Tyr8Ter)
|
rs746306598
|
|
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter)
|
rs746306598
|
|
NM_000179.3(MSH6):c.2500_2501del (p.Gln835fs)
|
rs1064794164
|
|
NM_000179.3(MSH6):c.2502_2515del (p.Ser834fs)
|
|
|
NM_000179.3(MSH6):c.2503C>T (p.Gln835Ter)
|
rs63751321
|
|
NM_000179.3(MSH6):c.2518A>C (p.Ser840Arg)
|
rs863224624
|
|
NM_000179.3(MSH6):c.2521del (p.Arg841fs)
|
rs1114167771
|
|
NM_000179.3(MSH6):c.2530_2534del (p.Ile843_Met844insTer)
|
|
|
NM_000179.3(MSH6):c.2534_2538del (p.Met844_Tyr845insTer)
|
|
|
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter)
|
rs587779241
|
|
NM_000179.3(MSH6):c.2536_2537insT (p.Glu846fs)
|
|
|
NM_000179.3(MSH6):c.253C>T (p.Pro85Ser)
|
rs779664343
|
|
NM_000179.3(MSH6):c.2544dup (p.Thr849fs)
|
|
|
NM_000179.3(MSH6):c.254CCA[1] (p.Thr86del)
|
rs1553408448
|
|
NM_000179.3(MSH6):c.2550C>A (p.Tyr850Ter)
|
rs374230313
|
|
NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter)
|
rs374230313
|
|
NM_000179.3(MSH6):c.2551_2552insTTATA (p.Ser851fs)
|
|
|
NM_000179.3(MSH6):c.2555AGA[2] (p.Lys854del)
|
rs587782858
|
|
NM_000179.3(MSH6):c.255C>A (p.Pro85=)
|
rs587779242
|
|
NM_000179.3(MSH6):c.255del (p.Thr86fs)
|
rs1064793183
|
|
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs)
|
rs587779243
|
|
NM_000179.3(MSH6):c.2570A>G (p.Asp857Gly)
|
rs758176077
|
|
NM_000179.3(MSH6):c.2574del (p.Leu859fs)
|
rs1669483230
|
|
NM_000179.3(MSH6):c.2577_2580del (p.Ser860fs)
|
|
|
NM_000179.3(MSH6):c.2580del (p.Ala861fs)
|
|
|
NM_000179.3(MSH6):c.260+15del
|
rs1553408495
|
|
NM_000179.3(MSH6):c.260+1G>C
|
rs1553408467
|
|
NM_000179.3(MSH6):c.260+2T>C
|
rs1553408469
|
|
NM_000179.3(MSH6):c.260+2T>G
|
|
|
NM_000179.3(MSH6):c.260+2_260+3delinsAG
|
rs1064794075
|
|
NM_000179.3(MSH6):c.2602del (p.Met868fs)
|
rs1572727797
|
|
NM_000179.3(MSH6):c.2607_2617del (p.Cys869fs)
|
|
|
NM_000179.3(MSH6):c.2608A>T (p.Lys870Ter)
|
|
|
NM_000179.3(MSH6):c.261-14C>T
|
rs369366445
|
|
NM_000179.3(MSH6):c.261-2A>T
|
|
|
NM_000179.3(MSH6):c.261-6C>G
|
rs1558651835
|
|
NM_000179.3(MSH6):c.2610_2611dup (p.Ile871fs)
|
rs1669487701
|
|
NM_000179.3(MSH6):c.2611_2614dup (p.Ile872fs)
|
rs63750357
|
|
NM_000179.3(MSH6):c.2615_2616del (p.Ile872fs)
|
|
|
NM_000179.3(MSH6):c.2618_2619del (p.Gly873fs)
|
rs1114167749
|
|
NM_000179.3(MSH6):c.2622del (p.Met875fs)
|
|
|
NM_000179.3(MSH6):c.2636C>A (p.Ala879Asp)
|
rs1558666061
|
|
NM_000179.3(MSH6):c.263dup (p.Cys88fs)
|
|
|
NM_000179.3(MSH6):c.2641_2642delinsA (p.Gly881fs)
|
|
|
NM_000179.3(MSH6):c.2641delinsAAAA (p.Gly881delinsLysSer)
|
rs63751408
|
|
NM_000179.3(MSH6):c.2642del (p.Gly881fs)
|
|
|
NM_000179.3(MSH6):c.2645_2653del (p.Phe882_Lys885delinsTer)
|
rs876660630
|
|
NM_000179.3(MSH6):c.2647A>T (p.Lys883Ter)
|
rs1669491751
|
|
NM_000179.3(MSH6):c.2653A>T (p.Lys885Ter)
|
rs587782593
|
|
NM_000179.3(MSH6):c.2660T>C (p.Leu887Pro)
|
rs1558666142
|
|
NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter)
|
rs1558666177
|
|
NM_000179.3(MSH6):c.2665dup (p.Gln889fs)
|
rs1553413985
|
|
NM_000179.3(MSH6):c.2668G>T (p.Val890Phe)
|
rs786202628
|
|
NM_000179.3(MSH6):c.2670C>A (p.Val890=)
|
rs863224625
|
|
NM_000179.3(MSH6):c.2672_2674delinsC (p.Ile891fs)
|
rs587779244
|
|
NM_000179.3(MSH6):c.2675_2678del (p.Ser892fs)
|
|
|
NM_000179.3(MSH6):c.2677_2678del (p.Leu893fs)
|
rs1572728112
|
|
NM_000179.3(MSH6):c.2680C>T (p.Gln894Ter)
|
rs878853718
|
|
NM_000179.3(MSH6):c.2684C>G (p.Thr895Arg)
|
rs780081278
|
|
NM_000179.3(MSH6):c.2687_2690del (p.Lys896fs)
|
rs1553414010
|
|
NM_000179.3(MSH6):c.2690_2691insG (p.Asn897fs)
|
rs1669498074
|
|
NM_000179.3(MSH6):c.2690dup (p.Asn897fs)
|
rs1553414010
|
|
NM_000179.3(MSH6):c.2692_2693del (p.Asn897_Pro898insTer)
|
rs1553414029
|
|
NM_000179.3(MSH6):c.2693del (p.Pro898fs)
|
rs1553414022
|
|
NM_000179.3(MSH6):c.2697_2698insT (p.Gly900fs)
|
|
|
NM_000179.3(MSH6):c.2714T>A (p.Leu905Ter)
|
rs587779245
|
|
NM_000179.3(MSH6):c.2714del (p.Asp904_Leu905insTer)
|
|
|
NM_000179.3(MSH6):c.2719_2720del (p.Val907fs)
|
rs63750904
|
|
NM_000179.3(MSH6):c.2722G>A (p.Glu908Lys)
|
rs886056144
|
|
NM_000179.3(MSH6):c.2728_2735del (p.Asn910fs)
|
|
|
NM_000179.3(MSH6):c.2732G>A (p.Arg911Gln)
|
rs761622304
|
|
NM_000179.3(MSH6):c.2735G>A (p.Trp912Ter)
|
rs1060502876
|
|
NM_000179.3(MSH6):c.2736G>A (p.Trp912Ter)
|
rs1572728472
|
|
NM_000179.3(MSH6):c.2738del (p.Asp913fs)
|
|
|
NM_000179.3(MSH6):c.2739_2740dup (p.Thr914fs)
|
rs1553414092
|
|
NM_000179.3(MSH6):c.2739_2742dup (p.Ala915fs)
|
|
|
NM_000179.3(MSH6):c.2743G>A (p.Ala915Thr)
|
rs1558666565
|
|
NM_000179.3(MSH6):c.2743G>T (p.Ala915Ser)
|
rs1558666565
|
|
NM_000179.3(MSH6):c.2749dup (p.Asp917fs)
|
rs1669506824
|
|
NM_000179.3(MSH6):c.2752C>T (p.His918Tyr)
|
rs1558666591
|
|
NM_000179.3(MSH6):c.2758A>T (p.Lys920Ter)
|
rs2104422674
|
|
NM_000179.3(MSH6):c.2759_2768dup (p.Thr924fs)
|
|
|
NM_000179.3(MSH6):c.2759del (p.Lys920fs)
|
rs1114167794
|
|
NM_000179.3(MSH6):c.2759dup (p.Ala921fs)
|
rs1114167794
|
|
NM_000179.3(MSH6):c.275C>T (p.Pro92Leu)
|
rs1257646433
|
|
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)
|
rs587779246
|
|
NM_000179.3(MSH6):c.2765del (p.Arg922fs)
|
rs587779247
|
|
NM_000179.3(MSH6):c.2767A>T (p.Lys923Ter)
|
|
|
NM_000179.3(MSH6):c.2768dup (p.Thr924fs)
|
rs267608063
|
|
NM_000179.3(MSH6):c.2772_2773del (p.Gly925fs)
|
rs1553414131
|
|
NM_000179.3(MSH6):c.2773G>T (p.Gly925Ter)
|
|
|
NM_000179.3(MSH6):c.2778dup (p.Ile927fs)
|
|
|
NM_000179.3(MSH6):c.2782A>G (p.Thr928Ala)
|
rs1057519255
|
|
NM_000179.3(MSH6):c.2788A>T (p.Lys930Ter)
|
|
|
NM_000179.3(MSH6):c.2799dup (p.Asp934Ter)
|
rs2104424562
|
|
NM_000179.3(MSH6):c.2804_2805del (p.Asp934_Ser935insTer)
|
rs878853721
|
|
NM_000179.3(MSH6):c.2805_2806del (p.Asp936fs)
|
rs863225403
|
|
NM_000179.3(MSH6):c.2805dup (p.Asp936Ter)
|
rs876659189
|
|
NM_000179.3(MSH6):c.2811T>A (p.Tyr937Ter)
|
|
|
NM_000179.3(MSH6):c.2815C>T (p.Gln939Ter)
|
rs63750140
|
|
NM_000179.3(MSH6):c.2830del (p.Asp943_Ile944insTer)
|
|
|
NM_000179.3(MSH6):c.2831_2832del (p.Ile944fs)
|
|
|
NM_000179.3(MSH6):c.2831_2835del (p.Ile944fs)
|
|
|
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs)
|
rs730881827
|
|
NM_000179.3(MSH6):c.2834_2845delinsA (p.Arg945fs)
|
|
|
NM_000179.3(MSH6):c.2836_2837del (p.Glu946fs)
|
|
|
NM_000179.3(MSH6):c.2842G>T (p.Glu948Ter)
|
rs1572728898
|
|
NM_000179.3(MSH6):c.2845C>T (p.Gln949Ter)
|
rs878853724
|
|
NM_000179.3(MSH6):c.2845_2846del (p.Gln949fs)
|
rs1572728922
|
|
NM_000179.3(MSH6):c.2848_2849del (p.Ser950fs)
|
rs869312770
|
|
NM_000179.3(MSH6):c.2851_2858del (p.Leu951fs)
|
rs63750940
|
|
NM_000179.3(MSH6):c.2862C>G (p.Tyr954Ter)
|
rs1064793671
|
|
NM_000179.3(MSH6):c.2863del (p.Tyr954_Leu955insTer)
|
rs1114167714
|
|
NM_000179.3(MSH6):c.2872C>T (p.Gln958Ter)
|
rs1553414236
|
|
NM_000179.3(MSH6):c.2872_2873dup (p.Gln958fs)
|
|
|
NM_000179.3(MSH6):c.2873_2874del (p.Gln958fs)
|
rs1553414239
|
|
NM_000179.3(MSH6):c.2873del (p.Gln958fs)
|
rs1572729033
|
|
NM_000179.3(MSH6):c.2883_2886dup (p.Gly963fs)
|
|
|
NM_000179.3(MSH6):c.2892T>A (p.Cys964Ter)
|
rs1482228994
|
|
NM_000179.3(MSH6):c.2897_2898dup (p.Ile967fs)
|
rs2104429347
|
|
NM_000179.3(MSH6):c.2906A>C (p.Tyr969Ser)
|
rs63749919
|
|
NM_000179.3(MSH6):c.2906A>G (p.Tyr969Cys)
|
rs63749919
|
|
NM_000179.3(MSH6):c.2906_2907del (p.Tyr969fs)
|
rs786203924
|
|
NM_000179.3(MSH6):c.2909G>A (p.Trp970Ter)
|
|
|
NM_000179.3(MSH6):c.290G>A (p.Trp97Ter)
|
|
|
NM_000179.3(MSH6):c.2910G>A (p.Trp970Ter)
|
rs765411990
|
|
NM_000179.3(MSH6):c.2913dup (p.Ile972fs)
|
rs1054003194
|
|
NM_000179.3(MSH6):c.2916dup (p.Gly973fs)
|
|
|
NM_000179.3(MSH6):c.2920del (p.Arg974fs)
|
rs1558667222
|
|
NM_000179.3(MSH6):c.2924_2927del (p.Asn975fs)
|
|
|
NM_000179.3(MSH6):c.2926_2929dup (p.Tyr977fs)
|
|
|
NM_000179.3(MSH6):c.2930dup (p.Tyr977Ter)
|
rs1669529094
|
|
NM_000179.3(MSH6):c.2931C>A (p.Tyr977Ter)
|
rs63750111
|
|
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter)
|
rs63750111
|
|
NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter)
|
rs587781372
|
|
NM_000179.3(MSH6):c.2938G>T (p.Glu980Ter)
|
rs2104431856
|
|
NM_000179.3(MSH6):c.2938del (p.Glu980fs)
|
rs2104431813
|
|
NM_000179.3(MSH6):c.2940_2941dup (p.Ile981fs)
|
|
|
NM_000179.3(MSH6):c.2943del (p.Pro982fs)
|
|
|
NM_000179.3(MSH6):c.2943dup (p.Pro982fs)
|
rs2104432135
|
|
NM_000179.3(MSH6):c.2945del (p.Pro982fs)
|
rs587779250
|
|
NM_000179.3(MSH6):c.2955del (p.Phe985fs)
|
|
|
NM_000179.3(MSH6):c.2961dup (p.Arg988fs)
|
rs1669532554
|
|
NM_000179.3(MSH6):c.2963G>T (p.Arg988Leu)
|
rs115386788
|
|
NM_000179.3(MSH6):c.2964dup (p.Asn989fs)
|
rs587781659
|
|
NM_000179.3(MSH6):c.2966A>T (p.Asn989Ile)
|
rs763146296
|
|
NM_000179.3(MSH6):c.2976del (p.Glu993fs)
|
rs587779251
|
|
NM_000179.3(MSH6):c.2977del (p.Glu993fs)
|
|
|
NM_000179.3(MSH6):c.2982C>G (p.Tyr994Ter)
|
rs367758473
|
|
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)
|
rs63750258
|
|
NM_000179.3(MSH6):c.2984del (p.Glu995fs)
|
rs63749938
|
|
NM_000179.3(MSH6):c.2988del (p.Lys997fs)
|
|
|
NM_000179.3(MSH6):c.2989A>T (p.Lys997Ter)
|
rs1064794943
|
|
NM_000179.3(MSH6):c.2991del (p.Lys997fs)
|
rs1060502890
|
|
NM_000179.3(MSH6):c.2993del (p.Ser998fs)
|
|
|
NM_000179.3(MSH6):c.2999del (p.Lys1000fs)
|
|
|
NM_000179.3(MSH6):c.3010A>G (p.Lys1004Glu)
|
rs1558667702
|
|
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)
|
rs63750563
|
|
NM_000179.3(MSH6):c.3014G>T (p.Arg1005Leu)
|
rs587782324
|
|
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter)
|
rs1553414395
|
|
NM_000179.3(MSH6):c.3018C>G (p.Tyr1006Ter)
|
rs1553414395
|
|
NM_000179.3(MSH6):c.3018del (p.Trp1007fs)
|
rs1669539415
|
|
NM_000179.3(MSH6):c.3019T>C (p.Trp1007Arg)
|
rs1553414398
|
|
NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter)
|
rs587779252
|
|
NM_000179.3(MSH6):c.3021G>A (p.Trp1007Ter)
|
rs587779253
|
|
NM_000179.3(MSH6):c.3021del (p.Tyr1006_Trp1007insTer)
|
rs587782862
|
|
NM_000179.3(MSH6):c.3028del (p.Thr1010fs)
|
rs1114167773
|
|
NM_000179.3(MSH6):c.3029C>T (p.Thr1010Ile)
|
rs768925694
|
|
NM_000179.3(MSH6):c.302_305dup (p.Tyr103fs)
|
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)
|
rs587782712
|
|
NM_000179.3(MSH6):c.3038dup (p.Lys1014fs)
|
|
|
NM_000179.3(MSH6):c.3040A>T (p.Lys1014Ter)
|
|
|
NM_000179.3(MSH6):c.3053_3054del (p.Leu1018fs)
|
rs63751407
|
|
NM_000179.3(MSH6):c.3057_3060del (p.Ile1019fs)
|
|
|
NM_000179.3(MSH6):c.3059dup (p.Asn1020fs)
|
|
|
NM_000179.3(MSH6):c.3064G>T (p.Glu1022Ter)
|
rs1114167724
|
|
NM_000179.3(MSH6):c.3067G>C (p.Glu1023Gln)
|
|
|
NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter)
|
rs267608059
|
|
NM_000179.3(MSH6):c.3070C>T (p.Arg1024Trp)
|
rs370505117
|
|
NM_000179.3(MSH6):c.3080dup (p.Ser1028fs)
|
rs1572730021
|
|
NM_000179.3(MSH6):c.3083C>G (p.Ser1028Ter)
|
rs876660853
|
|
NM_000179.3(MSH6):c.3088A>T (p.Lys1030Ter)
|
rs1114167707
|
|
NM_000179.3(MSH6):c.3097_3100del (p.Met1033fs)
|
rs1553414498
|
|
NM_000179.3(MSH6):c.3098T>A (p.Met1033Lys)
|
rs751035257
|
|
NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter)
|
rs1553410230
|
|
NM_000179.3(MSH6):c.3104G>A (p.Arg1035Gln)
|
rs730881801
|
|
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs)
|
rs1553414519
|
|
NM_000179.3(MSH6):c.3110_3111insA (p.Phe1037fs)
|
|
|
NM_000179.3(MSH6):c.3111C>A (p.Phe1037Leu)
|
rs587781673
|
|
NM_000179.3(MSH6):c.3111del (p.Tyr1038fs)
|
|
|
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer)
|
rs267608042
|
|
NM_000179.3(MSH6):c.3126A>C (p.Lys1042Asn)
|
rs1558668218
|
|
NM_000179.3(MSH6):c.3128dup (p.Asn1043fs)
|
|
|
NM_000179.3(MSH6):c.3132C>A (p.Tyr1044Ter)
|
rs1669552731
|
|
NM_000179.3(MSH6):c.3132C>G (p.Tyr1044Ter)
|
rs1669552731
|
|
NM_000179.3(MSH6):c.3137_3138del (p.Asp1046fs)
|
rs1558668258
|
|
NM_000179.3(MSH6):c.3139T>C (p.Trp1047Arg)
|
rs1114167753
|
|
NM_000179.3(MSH6):c.3139del (p.Trp1047fs)
|
rs1114167782
|
|
NM_000179.3(MSH6):c.313del (p.Trp105fs)
|
rs1572708636
|
|
NM_000179.3(MSH6):c.3141G>A (p.Trp1047Ter)
|
rs1553414554
|
|
NM_000179.3(MSH6):c.3142C>T (p.Gln1048Ter)
|
rs200492211
|
|
NM_000179.3(MSH6):c.3147_3150dup (p.Val1051fs)
|
|
|
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)
|
rs576269342
|
|
NM_000179.3(MSH6):c.3151_3152dup (p.Val1051_Glu1052insTer)
|
rs1175196087
|
|
NM_000179.3(MSH6):c.3153A>G (p.Val1051=)
|
rs1057521587
|
|
NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs)
|
rs63750833
|
|
NM_000179.3(MSH6):c.3158_3159del (p.Cys1053fs)
|
rs2104443138
|
|
NM_000179.3(MSH6):c.3159dup (p.Ile1054fs)
|
rs1553414578
|
|
NM_000179.3(MSH6):c.3163G>C (p.Ala1055Pro)
|
rs587779254
|
|
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs)
|
rs878853729
|
|
NM_000179.3(MSH6):c.3170T>A (p.Leu1057Ter)
|
rs778741297
|
|
NM_000179.3(MSH6):c.3172+1G>A
|
rs587779255
|
|
NM_000179.3(MSH6):c.3172+1G>C
|
rs587779255
|
|
NM_000179.3(MSH6):c.3172+1G>T
|
rs587779255
|
|
NM_000179.3(MSH6):c.3172+230_3172+231dup
|
rs10666222
|
|
NM_000179.3(MSH6):c.3172G>C (p.Asp1058His)
|
rs863225404
|
|
NM_000179.3(MSH6):c.3173-10_3173-6del
|
rs781520783
|
|
NM_000179.3(MSH6):c.3173-12C>T
|
rs1057517629
|
|
NM_000179.3(MSH6):c.3173-18T>C
|
rs189672273
|
|
NM_000179.3(MSH6):c.3173-1G>A
|
rs397515875
|
|
NM_000179.3(MSH6):c.3173-1G>C
|
rs397515875
|
|
NM_000179.3(MSH6):c.3173-1_3173del
|
rs587779256
|
|
NM_000179.3(MSH6):c.3173-1del
|
|
|
NM_000179.3(MSH6):c.3173-2A>C
|
rs1553331242
|
|
NM_000179.3(MSH6):c.3173-3C>G
|
rs1060502944
|
|
NM_000179.3(MSH6):c.3173-433_3556+228del
|
|
|
NM_000179.3(MSH6):c.3182del (p.Leu1061fs)
|
rs63750196
|
|
NM_000179.3(MSH6):c.3185G>A (p.Cys1062Tyr)
|
rs1558386797
|
|
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)
|
rs1060502901
|
|
NM_000179.3(MSH6):c.3189_3192dup (p.Asn1065delinsGlyTer)
|
|
|
NM_000179.3(MSH6):c.3190_3192delinsCC (p.Ala1064fs)
|
|
|
NM_000179.3(MSH6):c.3190_3224dup (p.Cys1075fs)
|
|
|
NM_000179.3(MSH6):c.3195_3198del (p.Asn1065fs)
|
rs267608085
|
|
NM_000179.3(MSH6):c.3198T>G (p.Tyr1066Ter)
|
|
|
NM_000179.3(MSH6):c.3198_3199del (p.Tyr1066_Ser1067delinsTer)
|
rs63749821
|
|
NM_000179.3(MSH6):c.3198_3199dup (p.Ser1067fs)
|
rs63749821
|
|
NM_000179.3(MSH6):c.3199_3213del (p.Ser1067_Asp1071del)
|
rs1064792972
|
|
NM_000179.3(MSH6):c.3200G>C (p.Ser1067Thr)
|
rs730881803
|
|
NM_000179.3(MSH6):c.3207G>T (p.Gly1069=)
|
rs267608074
|
|
NM_000179.3(MSH6):c.3209del (p.Gly1070fs)
|
rs1315445200
|
|
NM_000179.3(MSH6):c.3209dup (p.Gly1070_Asp1071insTer)
|
rs1315445200
|
|
NM_000179.3(MSH6):c.3214G>A (p.Gly1072Ser)
|
rs1558386938
|
|
NM_000179.3(MSH6):c.3215G>A (p.Gly1072Asp)
|
rs781243845
|
|
NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs)
|
rs1057517552
|
|
NM_000179.3(MSH6):c.3219dup (p.Met1074fs)
|
|
|
NM_000179.3(MSH6):c.3220_3221del (p.Met1074fs)
|
rs1553331290
|
|
NM_000179.3(MSH6):c.3221del (p.Met1074fs)
|
rs267608090
|
|
NM_000179.3(MSH6):c.3223dup (p.Cys1075fs)
|
rs1572735072
|
|
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly)
|
rs63750617
|
|
NM_000179.3(MSH6):c.3226dup (p.Arg1076fs)
|
rs1553331304
|
|
NM_000179.3(MSH6):c.3228C>T (p.Arg1076=)
|
rs786203698
|
|
NM_000179.3(MSH6):c.322T>C (p.Cys108Arg)
|
rs1668689651
|
|
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs)
|
rs863225406
|
|
NM_000179.3(MSH6):c.3238del (p.Leu1080fs)
|
rs1553331337
|
|
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3246G>C (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3247G>T (p.Glu1083Ter)
|
rs763844573
|
|
NM_000179.3(MSH6):c.3251A>G (p.Asp1084Gly)
|
rs1553331364
|
|
NM_000179.3(MSH6):c.3252dup (p.Thr1085fs)
|
rs1553331366
|
|
NM_000179.3(MSH6):c.3253del (p.Thr1085fs)
|
rs1060502891
|
|
NM_000179.3(MSH6):c.3253dup (p.Thr1085fs)
|
rs1114167705
|
|
NM_000179.3(MSH6):c.3255_3256delinsA (p.Phe1088fs)
|
|
|
NM_000179.3(MSH6):c.3256C>G (p.Pro1086Ala)
|
rs756108143
|
|
NM_000179.3(MSH6):c.3259C>A (p.Pro1087Thr)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3259C>G (p.Pro1087Ala)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3259_3260insT (p.Pro1087fs)
|
rs587779258
|
|
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His)
|
rs63750753
|
|
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg)
|
rs63750753
|
|
NM_000179.3(MSH6):c.3260_3261del (p.Pro1087fs)
|
|
|
NM_000179.3(MSH6):c.3260_3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3260_3261insT (p.Phe1088fs)
|
|
|
NM_000179.3(MSH6):c.3261C>T (p.Pro1087=)
|
rs370226185
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3263del (p.Phe1088fs)
|
|
|
NM_000179.3(MSH6):c.3263dup (p.Glu1090fs)
|
rs267608091
|
|
NM_000179.3(MSH6):c.3266T>C (p.Leu1089Ser)
|
rs1669748364
|
|
NM_000179.3(MSH6):c.3266T>G (p.Leu1089Ter)
|
rs1669748364
|
|
NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs)
|
rs587779259
|
|
NM_000179.3(MSH6):c.3270G>C (p.Glu1090Asp)
|
rs876660165
|
|
NM_000179.3(MSH6):c.3273dup (p.Lys1092Ter)
|
rs267608095
|
|
NM_000179.3(MSH6):c.3276del (p.Gly1093fs)
|
|
|
NM_000179.3(MSH6):c.3276dup (p.Gly1093fs)
|
rs1558387361
|
|
NM_000179.3(MSH6):c.3277G>T (p.Gly1093Ter)
|
|
|
NM_000179.3(MSH6):c.3289C>T (p.Pro1097Ser)
|
|
|
NM_000179.3(MSH6):c.3294C>A (p.Cys1098Ter)
|
|
|
NM_000179.3(MSH6):c.3299C>T (p.Thr1100Met)
|
rs63750442
|
|
NM_000179.3(MSH6):c.3301_3302del (p.Lys1101fs)
|
|
|
NM_000179.3(MSH6):c.3305_3306insA (p.Gly1105fs)
|
|
|
NM_000179.3(MSH6):c.3306_3307delinsA (p.Phe1104fs)
|
|
|
NM_000179.3(MSH6):c.3307T>G (p.Phe1103Val)
|
rs1553331522
|
|
NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3312del (p.Phe1104fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3312dup (p.Gly1105fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3313_3344del (p.Gly1105fs)
|
|
|
NM_000179.3(MSH6):c.3314G>T (p.Gly1105Val)
|
rs1060502910
|
|
NM_000179.3(MSH6):c.331del (p.Tyr111fs)
|
|
|
NM_000179.3(MSH6):c.3320del (p.Asp1107fs)
|
rs63750377
|
|
NM_000179.3(MSH6):c.3324dup (p.Ile1109fs)
|
rs267608088
|
|
NM_000179.3(MSH6):c.3329del (p.Pro1110fs)
|
|
|
NM_000179.3(MSH6):c.3332_3335dup (p.Asp1112delinsGluTer)
|
rs587782562
|
|
NM_000179.3(MSH6):c.3338T>G (p.Ile1113Ser)
|
rs41295272
|
|
NM_000179.3(MSH6):c.333C>G (p.Tyr111Ter)
|
rs786202772
|
|
NM_000179.3(MSH6):c.3341T>A (p.Leu1114Gln)
|
rs1553331600
|
|
NM_000179.3(MSH6):c.3341_3342insC (p.Ile1115fs)
|
rs587779260
|
|
NM_000179.3(MSH6):c.3351_3352del (p.Cys1117_Glu1118delinsTer)
|
|
|
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=)
|
rs35642130
|
|
NM_000179.3(MSH6):c.3355G>T (p.Glu1119Ter)
|
rs267608084
|
|
NM_000179.3(MSH6):c.3355del (p.Glu1119fs)
|
|
|
NM_000179.3(MSH6):c.3356_3358delinsGAT (p.Glu1119_Glu1120delinsGlyTer)
|
rs1114167695
|
|
NM_000179.3(MSH6):c.3358G>T (p.Glu1120Ter)
|
rs1114167793
|
|
NM_000179.3(MSH6):c.3361G>T (p.Glu1121Ter)
|
rs587781609
|
|
NM_000179.3(MSH6):c.3364C>G (p.Gln1122Glu)
|
rs1060502892
|
|
NM_000179.3(MSH6):c.3365_3366insTT (p.Gln1122fs)
|
|
|
NM_000179.3(MSH6):c.3367G>T (p.Glu1123Ter)
|
rs267608086
|
|
NM_000179.3(MSH6):c.3371dup (p.Asn1124fs)
|
rs1553331659
|
|
NM_000179.3(MSH6):c.3378del (p.Ala1127fs)
|
|
|
NM_000179.3(MSH6):c.3379_3438+5del
|
rs1553331676
|
|
NM_000179.3(MSH6):c.3383_3384dup (p.Cys1129fs)
|
rs1572735943
|
|
NM_000179.3(MSH6):c.3386del (p.Cys1129fs)
|
|
|
NM_000179.3(MSH6):c.3399_3403del (p.Gly1134fs)
|
rs1669770252
|
|
NM_000179.3(MSH6):c.3399delinsGTA (p.Thr1133_Gly1134insTer)
|
|
|
NM_000179.3(MSH6):c.339C>T (p.His113=)
|
rs886056141
|
|
NM_000179.3(MSH6):c.3403_3407del (p.Pro1135fs)
|
|
|
NM_000179.3(MSH6):c.3404dup (p.Asn1136fs)
|
|
|
NM_000179.3(MSH6):c.3408T>G (p.Asn1136Lys)
|
|
|
NM_000179.3(MSH6):c.3414_3416del (p.Gly1139del)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3415G>A (p.Gly1139Ser)
|
rs63751063
|
|
NM_000179.3(MSH6):c.3416G>A (p.Gly1139Asp)
|
rs1316409501
|
|
NM_000179.3(MSH6):c.3416del (p.Gly1139fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3417C>T (p.Gly1139=)
|
rs876660283
|
|
NM_000179.3(MSH6):c.3417del (p.Lys1140fs)
|
rs1572736122
|
|
NM_000179.3(MSH6):c.3431T>G (p.Met1144Arg)
|
rs864622607
|
|
NM_000179.3(MSH6):c.3433A>T (p.Arg1145Ter)
|
|
|
NM_000179.3(MSH6):c.3435del (p.Arg1145fs)
|
rs863224476
|
|
NM_000179.3(MSH6):c.3436C>T (p.Gln1146Ter)
|
rs63750356
|
|
NM_000179.3(MSH6):c.3438+1G>A
|
rs267608096
|
|
NM_000179.3(MSH6):c.3438+1G>C
|
|
|
NM_000179.3(MSH6):c.3438+1G>T
|
|
|
NM_000179.3(MSH6):c.3438+2T>C
|
rs1033749344
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
NM_000179.3(MSH6):c.3439-2A>G
|
rs267608098
|
|
NM_000179.3(MSH6):c.3439-2A>T
|
rs267608098
|
|
NM_000179.3(MSH6):c.3442G>A (p.Gly1148Ser)
|
rs63750257
|
|
NM_000179.3(MSH6):c.3446T>A (p.Leu1149Ter)
|
|
|
NM_000179.3(MSH6):c.3449T>A (p.Leu1150Ter)
|
rs1057517763
|
|
NM_000179.3(MSH6):c.3450A>C (p.Leu1150Phe)
|
rs762134820
|
|
NM_000179.3(MSH6):c.3450dup (p.Ala1151fs)
|
rs2104504315
|
|
NM_000179.3(MSH6):c.3455_3487del (p.Val1152_Ala1162del)
|
|
|
NM_000179.3(MSH6):c.345del (p.Phe115fs)
|
|
|
NM_000179.3(MSH6):c.3463C>T (p.Gln1155Ter)
|
rs1553332166
|
|
NM_000179.3(MSH6):c.3467T>C (p.Met1156Thr)
|
rs876659549
|
|
NM_000179.3(MSH6):c.3469G>A (p.Gly1157Ser)
|
rs587779264
|
|
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys)
|
rs587779264
|
|
NM_000179.3(MSH6):c.3470G>A (p.Gly1157Asp)
|
rs752212361
|
|
NM_000179.3(MSH6):c.3475del (p.Tyr1159fs)
|
rs1572738533
|
|
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter)
|
rs587782111
|
|
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer)
|
rs1114167767
|
|
NM_000179.3(MSH6):c.3478G>T (p.Val1160Phe)
|
rs376799914
|
|
NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del)
|
rs63751427
|
|
NM_000179.3(MSH6):c.3483_3502del (p.Ala1162fs)
|
|
|
NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp)
|
rs587779935
|
|
NM_000179.3(MSH6):c.3486dup (p.Glu1163Ter)
|
|
|
NM_000179.3(MSH6):c.3487del (p.Glu1163fs)
|
|
|
NM_000179.3(MSH6):c.3491T>C (p.Val1164Ala)
|
rs2104506640
|
|
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs)
|
rs876661073
|
|
NM_000179.3(MSH6):c.3493T>C (p.Cys1165Arg)
|
rs1669872142
|
|
NM_000179.3(MSH6):c.34C>A (p.Pro12Thr)
|
rs587782084
|
|
NM_000179.3(MSH6):c.3506_3524del (p.Pro1169fs)
|
rs2104507417
|
|
NM_000179.3(MSH6):c.3508A>C (p.Ile1170Leu)
|
rs1558389423
|
|
NM_000179.3(MSH6):c.350_353dup (p.Phe119fs)
|
rs1473648816
|
|
NM_000179.3(MSH6):c.3510_3513del (p.Asp1171fs)
|
rs2104507637
|
|
NM_000179.3(MSH6):c.3510_3513dup (p.Arg1172Ter)
|
rs2104507637
|
|
NM_000179.3(MSH6):c.3511_3512del (p.Ile1170_Asp1171insTer)
|
rs63751410
|
|
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs)
|
rs63750194
|
|
NM_000179.3(MSH6):c.3513_3523del (p.Asp1171_Arg1172insTer)
|
rs1324100572
|
|
NM_000179.3(MSH6):c.3515_3516insTGTTTACTAGACAG (p.Arg1172delinsSerValTyrTer)
|
|
|
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs)
|
rs398123232
|
|
NM_000179.3(MSH6):c.3516_3517dup (p.Val1173fs)
|
|
|
NM_000179.3(MSH6):c.3516_3519del (p.Arg1172fs)
|
rs267608099
|
|
NM_000179.3(MSH6):c.3518_3519insA (p.Phe1174fs)
|
|
|
NM_000179.3(MSH6):c.3519_3520del (p.Phe1174fs)
|
|
|
NM_000179.3(MSH6):c.3519_3520insA (p.Phe1174fs)
|
rs63750296
|
|
NM_000179.3(MSH6):c.3519_3522dup (p.Thr1175fs)
|
rs267608101
|
|
NM_000179.3(MSH6):c.3522_3524delinsAT (p.Phe1174fs)
|
rs1572738865
|
|
NM_000179.3(MSH6):c.3522dup (p.Thr1175fs)
|
|
|
NM_000179.3(MSH6):c.3523del (p.Thr1175fs)
|
|
|
NM_000179.3(MSH6):c.3524C>G (p.Thr1175Ser)
|
rs369583604
|
|
NM_000179.3(MSH6):c.3526A>T (p.Arg1176Ter)
|
rs786203968
|
|
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs)
|
rs863225408
|
|
NM_000179.3(MSH6):c.3539C>G (p.Ser1180Ter)
|
rs766905993
|
|
NM_000179.3(MSH6):c.3543_3546del (p.Asp1181fs)
|
rs1553332297
|
|
NM_000179.3(MSH6):c.3545_3546del (p.Arg1182fs)
|
|
|
NM_000179.3(MSH6):c.3554C>A (p.Ser1185Ter)
|
|
|
NM_000179.3(MSH6):c.3554C>G (p.Ser1185Ter)
|
rs1572739043
|
|
NM_000179.3(MSH6):c.3554_3556+2del
|
rs2104510085
|
|
NM_000179.3(MSH6):c.3555_3556del (p.Ser1185_Gly1186insTer)
|
rs1553332312
|
|
NM_000179.3(MSH6):c.3556+1G>A
|
rs1060502926
|
|
NM_000179.3(MSH6):c.3556+1G>T
|
rs1060502926
|
|
NM_000179.3(MSH6):c.3556+1del
|
rs1064793489
|
|
NM_000179.3(MSH6):c.3556+2T>G
|
|
|
NM_000179.3(MSH6):c.3556+32_3556+35del
|
rs780754745
|
|
NM_000179.3(MSH6):c.3556+36_3556+39del
|
rs55684722
|
|
NM_000179.3(MSH6):c.3556+5_3556+8delinsCATTATTGTCAGG
|
rs2104510542
|
|
NM_000179.3(MSH6):c.3557-16T>A
|
rs1259754363
|
|
NM_000179.3(MSH6):c.3557-1G>A
|
|
|
NM_000179.3(MSH6):c.3557-1G>C
|
rs1114167723
|
|
NM_000179.3(MSH6):c.3557-2del
|
rs587779271
|
|
NM_000179.3(MSH6):c.3557-4del
|
rs267608102
|
|
NM_000179.3(MSH6):c.3557-4dup
|
rs267608102
|
|
NM_000179.3(MSH6):c.3560_3563del (p.Glu1187fs)
|
rs2104521805
|
|
NM_000179.3(MSH6):c.3561_3565dup (p.Thr1189fs)
|
rs891318615
|
|
NM_000179.3(MSH6):c.3562_3565dup (p.Thr1189fs)
|
rs786203331
|
|
NM_000179.3(MSH6):c.356del (p.Phe119fs)
|
|
|
NM_000179.3(MSH6):c.356dup (p.Ile120fs)
|
rs1114167776
|
|
NM_000179.3(MSH6):c.3573del (p.Phe1191fs)
|
|
|
NM_000179.3(MSH6):c.3573dup (p.Val1192fs)
|
rs1057517764
|
|
NM_000179.3(MSH6):c.3574del (p.Val1192fs)
|
rs1553332671
|
|
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)
|
rs63751328
|
|
NM_000179.3(MSH6):c.3577G>T (p.Glu1193Ter)
|
|
|
NM_000179.3(MSH6):c.3577_3580dup (p.Leu1194Ter)
|
rs773262801
|
|
NM_000179.3(MSH6):c.3577_3581del (p.Glu1193fs)
|
rs1060502881
|
|
NM_000179.3(MSH6):c.3577del (p.Glu1193fs)
|
rs1114167755
|
|
NM_000179.3(MSH6):c.3581T>A (p.Leu1194Ter)
|
|
|
NM_000179.3(MSH6):c.3586G>T (p.Glu1196Ter)
|
rs75095286
|
|
NM_000179.3(MSH6):c.3587_3627dup (p.Val1210fs)
|
|
|
NM_000179.3(MSH6):c.3600_3601del (p.Leu1201fs)
|
|
|
NM_000179.3(MSH6):c.3600_3609del (p.Ile1200fs)
|
|
|
NM_000179.3(MSH6):c.3601_3620del (p.Leu1201fs)
|
|
|
NM_000179.3(MSH6):c.3602_3614del (p.Leu1201fs)
|
|
|
NM_000179.3(MSH6):c.3602_3614delinsACA (p.Leu1201fs)
|
|
|
NM_000179.3(MSH6):c.3609_3612del (p.His1203fs)
|
rs587779274
|
|
NM_000179.3(MSH6):c.3609del (p.His1203fs)
|
rs2104524646
|
|
NM_000179.3(MSH6):c.3610G>A (p.Ala1204Thr)
|
rs869312799
|
|
NM_000179.3(MSH6):c.3613_3615dup (p.Thr1205dup)
|
rs1558390840
|
|
NM_000179.3(MSH6):c.3615dup (p.Ala1206fs)
|
rs2104525000
|
|
NM_000179.3(MSH6):c.3619_3620del (p.His1207fs)
|
rs1572741984
|
|
NM_000179.3(MSH6):c.3622del (p.Ser1208fs)
|
|
|
NM_000179.3(MSH6):c.3622dup (p.Ser1208fs)
|
rs1553332733
|
|
NM_000179.3(MSH6):c.3626T>C (p.Leu1209Pro)
|
rs1114167688
|
|
NM_000179.3(MSH6):c.3626_3627del (p.Leu1209fs)
|
rs863225409
|
|
NM_000179.3(MSH6):c.362del (p.Arg121fs)
|
|
|
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro)
|
rs864622041
|
|
NM_000179.3(MSH6):c.3633_3646dup (p.Gly1216delinsValTrpMetAsnTer)
|
rs1572742114
|
|
NM_000179.3(MSH6):c.3633dup (p.Val1212fs)
|
rs587776706
|
|
NM_000179.3(MSH6):c.3634G>A (p.Val1212Met)
|
rs864622748
|
|
NM_000179.3(MSH6):c.3635dup (p.Asp1213fs)
|
rs63750731
|
|
NM_000179.3(MSH6):c.3636G>T (p.Val1212=)
|
rs1363247790
|
|
NM_000179.3(MSH6):c.3640G>T (p.Glu1214Ter)
|
|
|
NM_000179.3(MSH6):c.3644_3646+5del
|
|
|
NM_000179.3(MSH6):c.3645_3646+3delinsCGTT
|
|
|
NM_000179.3(MSH6):c.3645_3646dup (p.Gly1216fs)
|
|
|
NM_000179.3(MSH6):c.3646+1G>A
|
rs1553332772
|
|
NM_000179.3(MSH6):c.3646+1G>T
|
rs1553332772
|
|
NM_000179.3(MSH6):c.3646+1dup
|
rs1553332768
|
|
NM_000179.3(MSH6):c.3646+29CTAT[3]
|
rs1805181
|
|
NM_000179.3(MSH6):c.3646+2T>C
|
rs1553332776
|
|
NM_000179.3(MSH6):c.3646+2T>G
|
|
|
NM_000179.3(MSH6):c.3646+35_3646+38del
|
rs1805181
|
|
NM_000179.3(MSH6):c.3646+91T>C
|
rs3136359
|
|
NM_000179.3(MSH6):c.3646G>C (p.Gly1216Arg)
|
rs1114167690
|
|
NM_000179.3(MSH6):c.3646_3646+3del
|
rs267608106
|
|
NM_000179.3(MSH6):c.3647-11dup
|
rs774223571
|
|
NM_000179.3(MSH6):c.3647-13T>G
|
rs2104535905
|
|
NM_000179.3(MSH6):c.3647-1G>A
|
rs587779279
|
|
NM_000179.3(MSH6):c.3647-1G>C
|
rs587779279
|
|
NM_000179.3(MSH6):c.3647-2A>C
|
rs267608111
|
|
NM_000179.3(MSH6):c.3647-35_3647-34insTTTGTTCTAATTCCTTT
|
rs397515292
|
|
NM_000179.3(MSH6):c.3647-3C>T
|
rs1553332959
|
|
NM_000179.3(MSH6):c.3647-6T>C
|
rs182871847
|
|
NM_000179.3(MSH6):c.3647-6_3647-1del
|
rs267608112
|
|
NM_000179.3(MSH6):c.3651_3652dup (p.Gly1218fs)
|
rs1670039388
|
|
NM_000179.3(MSH6):c.3656C>T (p.Thr1219Ile)
|
rs63750949
|
|
NM_000179.3(MSH6):c.3657dup (p.Ala1220fs)
|
|
|
NM_000179.3(MSH6):c.3678_3706dup (p.Ala1236delinsGluTer)
|
rs1553332996
|
|
NM_000179.3(MSH6):c.3683dup (p.Asn1229fs)
|
|
|
NM_000179.3(MSH6):c.3690del (p.Val1231fs)
|
rs730881829
|
|
NM_000179.3(MSH6):c.3694_3695dup (p.Lys1233fs)
|
|
|
NM_000179.3(MSH6):c.3696_3717dup (p.Lys1240Ter)
|
|
|
NM_000179.3(MSH6):c.3696dup (p.Lys1233Ter)
|
rs1553333017
|
|
NM_000179.3(MSH6):c.3698_3699dup (p.Glu1234fs)
|
|
|
NM_000179.3(MSH6):c.3698_3702dup (p.Leu1235fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3699del (p.Glu1234fs)
|
rs1558392033
|
|
NM_000179.3(MSH6):c.369del (p.Lys125fs)
|
|
|
NM_000179.3(MSH6):c.3701_3702insT (p.Glu1234fs)
|
|
|
NM_000179.3(MSH6):c.3705T>C (p.Leu1235=)
|
rs545552712
|
|
NM_000179.3(MSH6):c.3705_3717dup (p.Lys1240delinsCysTer)
|
|
|
NM_000179.3(MSH6):c.3706G>C (p.Ala1236Pro)
|
rs1553333039
|
|
NM_000179.3(MSH6):c.3706dup (p.Ala1236fs)
|
|
|
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs)
|
rs1064794384
|
|
NM_000179.3(MSH6):c.3717_3721dup (p.Cys1241Ter)
|
rs878853736
|
|
NM_000179.3(MSH6):c.3720dup (p.Cys1241fs)
|
rs2104541388
|
|
NM_000179.3(MSH6):c.3722G>A (p.Cys1241Tyr)
|
rs1021631442
|
|
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)
|
rs63749942
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
NM_000179.3(MSH6):c.3725_3737del (p.Arg1242fs)
|
rs587779287
|
|
NM_000179.3(MSH6):c.3726dup (p.Thr1243fs)
|
|
|
NM_000179.3(MSH6):c.3728del (p.Thr1243fs)
|
|
|
NM_000179.3(MSH6):c.3729_3732dup (p.Phe1245fs)
|
rs587779288
|
|
NM_000179.3(MSH6):c.3731T>A (p.Leu1244Ter)
|
|
|
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)
|
rs1553333072
|
|
NM_000179.3(MSH6):c.3732_3736dup (p.Ser1246fs)
|
|
|
NM_000179.3(MSH6):c.3733_3739dup (p.Thr1247fs)
|
rs1670054668
|
|
NM_000179.3(MSH6):c.3735_3769del (p.Thr1247fs)
|
rs1558392228
|
|
NM_000179.3(MSH6):c.3736_3760dup (p.Glu1254fs)
|
|
|
NM_000179.3(MSH6):c.3736del (p.Ser1246fs)
|
|
|
NM_000179.3(MSH6):c.3739A>G (p.Thr1247Ala)
|
rs769360577
|
|
NM_000179.3(MSH6):c.373A>T (p.Lys125Ter)
|
|
|
NM_000179.3(MSH6):c.3742_3745dup (p.Tyr1249fs)
|
rs1558392265
|
|
NM_000179.3(MSH6):c.3743_3744del (p.His1248fs)
|
|
|
NM_000179.3(MSH6):c.3743_3744insT (p.Tyr1249fs)
|
rs786201084
|
|
NM_000179.3(MSH6):c.3746_3749dup (p.His1250fs)
|
rs587779936
|
|
NM_000179.3(MSH6):c.3752C>A (p.Ser1251Ter)
|
|
|
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)
|
rs876661222
|
|
NM_000179.3(MSH6):c.3757_3758insA (p.Val1253fs)
|
rs587779289
|
|
NM_000179.3(MSH6):c.3757_3767del (p.Val1253fs)
|
rs1553333093
|
|
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu)
|
rs202066386
|
|
NM_000179.3(MSH6):c.3758T>C (p.Val1253Ala)
|
rs202066386
|
|
NM_000179.3(MSH6):c.3760G>T (p.Glu1254Ter)
|
|
|
NM_000179.3(MSH6):c.3763_3767dup (p.Tyr1256Ter)
|
|
|
NM_000179.3(MSH6):c.3764A>T (p.Asp1255Val)
|
|
|
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)
|
rs63751058
|
|
NM_000179.3(MSH6):c.3772C>T (p.Gln1258Ter)
|
rs63750554
|
|
NM_000179.3(MSH6):c.3775_3776del (p.Asn1259fs)
|
rs1572745157
|
|
NM_000179.3(MSH6):c.377C>G (p.Ser126Ter)
|
rs1114167689
|
|
NM_000179.3(MSH6):c.3788dup (p.Leu1264fs)
|
|
|
NM_000179.3(MSH6):c.378A>G (p.Ser126=)
|
rs1572708845
|
|
NM_000179.3(MSH6):c.3792A>C (p.Leu1264=)
|
rs786202051
|
|
NM_000179.3(MSH6):c.3792del (p.Gly1265fs)
|
rs1553333164
|
|
NM_000179.3(MSH6):c.3793G>T (p.Gly1265Ter)
|
rs754469538
|
|
NM_000179.3(MSH6):c.3794del (p.Gly1265fs)
|
|
|
NM_000179.3(MSH6):c.3798_3801+26del
|
rs587779291
|
|
NM_000179.3(MSH6):c.3798_3801+9del
|
rs1553333168
|
|
NM_000179.3(MSH6):c.3798_3801dup (p.Ala1268fs)
|
|
|
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs)
|
rs267608114
|
|
NM_000179.3(MSH6):c.37A>T (p.Lys13Ter)
|
rs942019524
|
|
NM_000179.3(MSH6):c.3801+1G>A
|
|
|
NM_000179.3(MSH6):c.3801+1_3801+2insGTAT
|
rs2104547230
|
|
NM_000179.3(MSH6):c.3801+1_3801+5del
|
rs1553333175
|
|
NM_000179.3(MSH6):c.3801+1del
|
rs1553333185
|
|
NM_000179.3(MSH6):c.3801+2T>C
|
rs1558392617
|
|
NM_000179.3(MSH6):c.3801+2T>G
|
rs1558392617
|
|
NM_000179.3(MSH6):c.3802-14_3809del
|
|
|
NM_000179.3(MSH6):c.3802-15_3802delinsAAGCTAATAGCA
|
|
|
NM_000179.3(MSH6):c.3802-1G>C
|
rs1572746025
|
|
NM_000179.3(MSH6):c.3802-2A>G
|
|
|
NM_000179.3(MSH6):c.3802-43dup
|
rs34154602
|
|
NM_000179.3(MSH6):c.3802-8T>G
|
rs864622195
|
|
NM_000179.3(MSH6):c.3803C>T (p.Ala1268Val)
|
rs587779293
|
|
NM_000179.3(MSH6):c.3804dup (p.Cys1269fs)
|
rs267608118
|
|
NM_000179.3(MSH6):c.3812dup (p.Glu1272fs)
|
|
|
NM_000179.3(MSH6):c.3814_3827dup (p.Asp1277fs)
|
rs1558393070
|
|
NM_000179.3(MSH6):c.3818dup (p.Asn1273fs)
|
rs1553333321
|
|
NM_000179.3(MSH6):c.3820G>T (p.Glu1274Ter)
|
rs587779294
|
|
NM_000179.3(MSH6):c.3821_3824dup (p.Cys1275Ter)
|
rs63750262
|
|
NM_000179.3(MSH6):c.3822dup (p.Cys1275fs)
|
rs1553333346
|
|
NM_000179.3(MSH6):c.3826G>T (p.Glu1276Ter)
|
|
|
NM_000179.3(MSH6):c.382C>T (p.Arg128Cys)
|
rs1251938412
|
|
NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs)
|
rs1572746382
|
|
NM_000179.3(MSH6):c.3833C>G (p.Pro1278Arg)
|
rs201191389
|
|
NM_000179.3(MSH6):c.3834dup (p.Ser1279fs)
|
|
|
NM_000179.3(MSH6):c.3836G>A (p.Ser1279Asn)
|
rs864622400
|
|
NM_000179.3(MSH6):c.3837_3843del (p.Ser1279fs)
|
rs1553333370
|
|
NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter)
|
rs63750139
|
|
NM_000179.3(MSH6):c.3839dup (p.Glu1281fs)
|
rs1572746488
|
|
NM_000179.3(MSH6):c.383G>T (p.Arg128Leu)
|
rs63750143
|
|
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)
|
rs63751319
|
|
NM_000179.3(MSH6):c.3841_3847dup (p.Ile1283fs)
|
rs1114167720
|
|
NM_000179.3(MSH6):c.3843_3847dup (p.Ile1283fs)
|
|
|
NM_000179.3(MSH6):c.3846dup (p.Ile1283fs)
|
rs866771359
|
|
NM_000179.3(MSH6):c.3847_3848del (p.Ile1283fs)
|
|
|
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs)
|
rs267608128
|
|
NM_000179.3(MSH6):c.3848_3850dup (p.Ile1283dup)
|
rs1553333420
|
|
NM_000179.3(MSH6):c.3848_3851del (p.Ile1283fs)
|
|
|
NM_000179.3(MSH6):c.3849_3850del (p.Thr1284fs)
|
|
|
NM_000179.3(MSH6):c.3849del (p.Thr1284fs)
|
rs1064793781
|
|
NM_000179.3(MSH6):c.3850_3853dup (p.Phe1285fs)
|
|
|
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)
|
rs1553333421
|
|
NM_000179.3(MSH6):c.3851C>G (p.Thr1284Arg)
|
rs63750836
|
|
NM_000179.3(MSH6):c.3851_3852insA (p.Phe1285fs)
|
|
|
NM_000179.3(MSH6):c.3851_3860del (p.Thr1284fs)
|
|
|
NM_000179.3(MSH6):c.3852G>T (p.Thr1284=)
|
rs2229018
|
|
NM_000179.3(MSH6):c.3854_3861del (p.Thr1284_Phe1285insTer)
|
rs1553333449
|
|
NM_000179.3(MSH6):c.3856_3859del (p.Leu1286fs)
|
rs2104555974
|
|
NM_000179.3(MSH6):c.3856_3872dup (p.Lys1291fs)
|
|
|
NM_000179.3(MSH6):c.3859_3862dup (p.Lys1288delinsIleTer)
|
|
|
NM_000179.3(MSH6):c.3861T>A (p.Tyr1287Ter)
|
|
|
NM_000179.3(MSH6):c.3861T>G (p.Tyr1287Ter)
|
rs1060504739
|
|
NM_000179.3(MSH6):c.3862_3864delinsTACG (p.Lys1288fs)
|
|
|
NM_000179.3(MSH6):c.3863_3864del (p.Lys1288fs)
|
|
|
NM_000179.3(MSH6):c.3863_3866dup (p.Phe1289fs)
|
rs863225416
|
|
NM_000179.3(MSH6):c.3863_3876del (p.Lys1288fs)
|
|
|
NM_000179.3(MSH6):c.3864dup (p.Phe1289fs)
|
rs878853739
|
|
NM_000179.3(MSH6):c.3867_3870dup (p.Lys1291delinsHisTer)
|
|
|
NM_000179.3(MSH6):c.3869_3870del (p.Ile1290fs)
|
|
|
NM_000179.3(MSH6):c.3870_3871del (p.Lys1291fs)
|
|
|
NM_000179.3(MSH6):c.3873G>C (p.Lys1291Asn)
|
rs1670110153
|
|
NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs)
|
rs1553333500
|
|
NM_000179.3(MSH6):c.3880_3892del (p.Cys1294fs)
|
rs1553333497
|
|
NM_000179.3(MSH6):c.3882del (p.Pro1295fs)
|
rs876658817
|
|
NM_000179.3(MSH6):c.3887_3893del (p.Lys1296fs)
|
rs267608130
|
|
NM_000179.3(MSH6):c.3889_3891delinsGG (p.Ser1297fs)
|
|
|
NM_000179.3(MSH6):c.3889dup (p.Ser1297fs)
|
rs2104558375
|
|
NM_000179.3(MSH6):c.3891_3928dup (p.Glu1310fs)
|
rs1572746998
|
|
NM_000179.3(MSH6):c.3894T>A (p.Tyr1298Ter)
|
|
|
NM_000179.3(MSH6):c.3895_3935dup (p.Ile1313fs)
|
|
|
NM_000179.3(MSH6):c.3897_3931dup (p.Glu1311fs)
|
rs1064793895
|
|
NM_000179.3(MSH6):c.38A>C (p.Lys13Thr)
|
rs41294988
|
|
NM_000179.3(MSH6):c.3900_3945dup (p.Gly1316Ter)
|
rs1558393814
|
|
NM_000179.3(MSH6):c.3901_3902insG (p.Asn1301fs)
|
|
|
NM_000179.3(MSH6):c.3904G>A (p.Ala1302Thr)
|
rs1553333561
|
|
NM_000179.3(MSH6):c.3915_3916insA (p.Ala1306fs)
|
|
|
NM_000179.3(MSH6):c.3918dup (p.Asn1307Ter)
|
rs1553333594
|
|
NM_000179.3(MSH6):c.3919A>C (p.Asn1307His)
|
rs730881808
|
|
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)
|
rs1572747278
|
|
NM_000179.3(MSH6):c.3920_3927dup (p.Glu1310fs)
|
rs587779295
|
|
NM_000179.3(MSH6):c.3920del (p.Asn1307fs)
|
rs1114167760
|
|
NM_000179.3(MSH6):c.3922_3938dup (p.Gln1314fs)
|
rs1670123011
|
|
NM_000179.3(MSH6):c.3922_3940dup (p.Gln1314fs)
|
rs1553333598
|
|
NM_000179.3(MSH6):c.3922_3944dup (p.Lys1315fs)
|
rs1553333599
|
|
NM_000179.3(MSH6):c.3922_3953dup (p.Arg1318fs)
|
|
|
NM_000179.3(MSH6):c.3926_3927insGAGA (p.Glu1310fs)
|
rs1553333605
|
|
NM_000179.3(MSH6):c.3926del (p.Pro1309fs)
|
|
|
NM_000179.3(MSH6):c.3927_3939dup (p.Gln1314fs)
|
|
|
NM_000179.3(MSH6):c.3927_3957dup (p.Ala1320delinsArgGlySerTyrSerLysGlyThrTer)
|
rs1553333615
|
|
NM_000179.3(MSH6):c.3929_3938del (p.Glu1310fs)
|
|
|
NM_000179.3(MSH6):c.3930_3970dup (p.Glu1324fs)
|
rs878853742
|
|
NM_000179.3(MSH6):c.3931G>T (p.Glu1311Ter)
|
|
|
NM_000179.3(MSH6):c.3931del (p.Glu1311fs)
|
rs1558394093
|
|
NM_000179.3(MSH6):c.3932_3933del (p.Glu1311fs)
|
|
|
NM_000179.3(MSH6):c.3932_3933dup (p.Val1312fs)
|
|
|
NM_000179.3(MSH6):c.3932_3935dup (p.Ile1313fs)
|
rs267608127
|
|
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs)
|
rs760190301
|
|
NM_000179.3(MSH6):c.3936_3951del (p.Ile1313fs)
|
rs1553333635
|
|
NM_000179.3(MSH6):c.3936dup (p.Ile1313fs)
|
|
|
NM_000179.3(MSH6):c.3937_3938del (p.Ile1313fs)
|
|
|
NM_000179.3(MSH6):c.3938_3941dup (p.Gln1314fs)
|
rs267608126
|
|
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs)
|
rs730881830
|
|
NM_000179.3(MSH6):c.3939_3959dup (p.Gln1314_Ala1320dup)
|
rs1553333670
|
|
NM_000179.3(MSH6):c.3939dup (p.Gln1314fs)
|
rs1553333633
|
|
NM_000179.3(MSH6):c.3940C>T (p.Gln1314Ter)
|
rs1416452389
|
|
NM_000179.3(MSH6):c.3946G>C (p.Gly1316Arg)
|
rs773675555
|
|
NM_000179.3(MSH6):c.3946_3953del (p.Gly1316fs)
|
|
|
NM_000179.3(MSH6):c.3946_3958del (p.Gly1316fs)
|
rs1553333674
|
|
NM_000179.3(MSH6):c.3946_3958dup (p.Ala1320delinsGlyThrTer)
|
rs1553333674
|
|
NM_000179.3(MSH6):c.3947_3951dup (p.Arg1318fs)
|
|
|
NM_000179.3(MSH6):c.3949_3950del (p.Gly1316_His1317insTer)
|
|
|
NM_000179.3(MSH6):c.394C>T (p.Gln132Ter)
|
rs587782101
|
|
NM_000179.3(MSH6):c.394_395del (p.Gln132fs)
|
rs1668698146
|
|
NM_000179.3(MSH6):c.3951_3952del (p.His1317fs)
|
rs1114167790
|
|
NM_000179.3(MSH6):c.3951_3960del (p.His1317fs)
|
rs1553333682
|
|
NM_000179.3(MSH6):c.3951dup (p.Arg1318Ter)
|
rs1553333690
|
|
NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)
|
rs1572747685
|
|
NM_000179.3(MSH6):c.3954_3957dup (p.Ala1320fs)
|
|
|
NM_000179.3(MSH6):c.3955_3974dup (p.Met1326fs)
|
|
|
NM_000179.3(MSH6):c.3956_3957dup (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3956_3974del (p.Lys1319fs)
|
rs1558394336
|
|
NM_000179.3(MSH6):c.3957del (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3957dup (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3958_3986dup (p.Ser1329_Leu1330insGlnGluAsnLeuArgArgTer)
|
|
|
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)
|
rs267608120
|
|
NM_000179.3(MSH6):c.3959_3962dup (p.Arg1321fs)
|
|
|
NM_000179.3(MSH6):c.3959dup (p.Arg1321fs)
|
|
|
NM_000179.3(MSH6):c.3960_3963dup (p.Glu1322fs)
|
rs1553333700
|
|
NM_000179.3(MSH6):c.3962_3965dup (p.Phe1323fs)
|
rs1670140478
|
|
NM_000179.3(MSH6):c.3962_3966dup (p.Phe1323fs)
|
|
|
NM_000179.3(MSH6):c.3963A>G (p.Arg1321=)
|
rs267608125
|
|
NM_000179.3(MSH6):c.3964G>A (p.Glu1322Lys)
|
rs1553333707
|
|
NM_000179.3(MSH6):c.3964G>T (p.Glu1322Ter)
|
rs1553333707
|
|
NM_000179.3(MSH6):c.3966_3987dup (p.Leu1330delinsIleTer)
|
|
|
NM_000179.3(MSH6):c.3966dup (p.Phe1323fs)
|
rs886044911
|
|
NM_000179.3(MSH6):c.3969_3979del (p.Phe1323fs)
|
rs587779299
|
|
NM_000179.3(MSH6):c.3969_4001+52dup
|
rs1553333718
|
|
NM_000179.3(MSH6):c.3971AGA[1] (p.Lys1325del)
|
rs587779300
|
|
NM_000179.3(MSH6):c.3971_3983dup (p.Ser1329fs)
|
|
|
NM_000179.3(MSH6):c.397_410del (p.Phe133fs)
|
rs786202193
|
|
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)
|
rs1553333738
|
|
NM_000179.3(MSH6):c.3980dup (p.Asn1327fs)
|
rs587782326
|
|
NM_000179.3(MSH6):c.3982C>T (p.Gln1328Ter)
|
rs2104567084
|
|
NM_000179.3(MSH6):c.3984_3985insATCA (p.Ser1329fs)
|
rs267608124
|
|
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)
|
rs267608094
|
|
NM_000179.3(MSH6):c.3992G>A (p.Arg1331Gln)
|
rs184131049
|
|
NM_000179.3(MSH6):c.3992G>T (p.Arg1331Leu)
|
rs184131049
|
|
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)
|
rs1553333753
|
|
NM_000179.3(MSH6):c.3996_4000dup (p.Arg1334fs)
|
rs587779301
|
|
NM_000179.3(MSH6):c.3G>T (p.Met1Ile)
|
rs876660095
|
|
NM_000179.3(MSH6):c.4001+11_4001+35del
|
rs878853743
|
|
NM_000179.3(MSH6):c.4001+1G>A
|
rs1114167729
|
|
NM_000179.3(MSH6):c.4001+1G>C
|
rs1114167729
|
|
NM_000179.3(MSH6):c.4001+27TAAC[3]
|
rs267608136
|
|
NM_000179.3(MSH6):c.4001+2T>C
|
rs267608131
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+2TAAC[4]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+42_4001+44dup
|
rs926031657
|
|
NM_000179.3(MSH6):c.4001+4_4001+8dup
|
rs587782853
|
|
NM_000179.3(MSH6):c.4001+50_4001+51dup
|
rs199687113
|
|
NM_000179.3(MSH6):c.4001+5_4001+6insAGTTA
|
|
|
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)
|
rs267608122
|
|
NM_000179.3(MSH6):c.4001G>C (p.Arg1334Pro)
|
rs267608122
|
|
NM_000179.3(MSH6):c.4001G>T (p.Arg1334Leu)
|
|
|
NM_000179.3(MSH6):c.4002-10del
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-10dup
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-11_4002-10del
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-11_4002-10delinsA
|
rs1553333946
|
|
NM_000179.3(MSH6):c.4002-11_4002-10dup
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-12_4002-10dup
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-13_4002-10dup
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-22_4002-10delinsAAGGG
|
rs878853744
|
|
NM_000179.3(MSH6):c.4002-26_4002-25insCTTT
|
rs1553333916
|
|
NM_000179.3(MSH6):c.4002-2A>G
|
rs878853745
|
|
NM_000179.3(MSH6):c.4002-31_4002-8inv
|
|
|
NM_000179.3(MSH6):c.4002-36C>A
|
rs983280767
|
|
NM_000179.3(MSH6):c.4002-8A>T
|
rs778957100
|
|
NM_000179.3(MSH6):c.4002-9_4002-7del
|
rs864622105
|
|
NM_000179.3(MSH6):c.4018A>G (p.Ser1340Gly)
|
rs1558395603
|
|
NM_000179.3(MSH6):c.4022_4077dup (p.Leu1360delinsLysGlyGlnLeuTer)
|
rs1553334006
|
|
NM_000179.3(MSH6):c.4029_4031dup (p.Thr1344dup)
|
rs772655560
|
|
NM_000179.3(MSH6):c.402del (p.Phe134fs)
|
|
|
NM_000179.3(MSH6):c.402dup (p.Asp135Ter)
|
rs1057524912
|
|
NM_000179.3(MSH6):c.4034_4042del (p.Val1345_Ala1347del)
|
rs864622703
|
|
NM_000179.3(MSH6):c.4062_4065dup (p.Leu1356fs)
|
rs1553334056
|
|
NM_000179.3(MSH6):c.4064_4065insGTCA (p.Leu1356fs)
|
rs267608141
|
|
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)
|
rs55740729
|
|
NM_000179.3(MSH6):c.4072A>G (p.Lys1358Glu)
|
rs199739099
|
|
NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?)
|
rs575068534
|
|
NM_000179.3(MSH6):c.4081_4082del (p.Ter1361AspextTer?)
|
rs863224830
|
|
NM_000179.3(MSH6):c.4083GACT[3] (p.Ter1361=)
|
rs765313977
|
|
NM_000179.3(MSH6):c.418dup (p.Arg140fs)
|
|
|
NM_000179.3(MSH6):c.41C>T (p.Ser14Phe)
|
rs863224628
|
|
NM_000179.3(MSH6):c.422del (p.Gly141fs)
|
rs1553410342
|
|
NM_000179.3(MSH6):c.423C>G (p.Gly141=)
|
rs777587467
|
|
NM_000179.3(MSH6):c.423del (p.Trp142fs)
|
rs1114167728
|
|
NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)
|
rs63750342
|
|
NM_000179.3(MSH6):c.433A>T (p.Lys145Ter)
|
|
|
NM_000179.3(MSH6):c.439C>T (p.Leu147Phe)
|
rs2104111618
|
|
NM_000179.3(MSH6):c.442_443del (p.Leu148fs)
|
rs1060502875
|
|
NM_000179.3(MSH6):c.443T>G (p.Leu148Ter)
|
|
|
NM_000179.3(MSH6):c.457+1G>A
|
|
|
NM_000179.3(MSH6):c.457+1del
|
rs876661125
|
|
NM_000179.3(MSH6):c.457+2T>A
|
rs267608036
|
|
NM_000179.3(MSH6):c.457+2T>G
|
|
|
NM_000179.3(MSH6):c.457+32TG[12]
|
rs397839804
|
|
NM_000179.3(MSH6):c.457G>T (p.Gly153Cys)
|
rs1060502885
|
|
NM_000179.3(MSH6):c.458-1G>A
|
rs267608035
|
|
NM_000179.3(MSH6):c.458-1G>T
|
rs267608035
|
|
NM_000179.3(MSH6):c.458-2A>C
|
|
|
NM_000179.3(MSH6):c.458-5del
|
rs587781955
|
|
NM_000179.3(MSH6):c.461C>A (p.Ser154Ter)
|
|
|
NM_000179.3(MSH6):c.461C>G (p.Ser154Ter)
|
rs1553411391
|
|
NM_000179.3(MSH6):c.468_471del (p.Glu158fs)
|
rs587779941
|
|
NM_000179.3(MSH6):c.469_470dup (p.Glu158fs)
|
rs1553411392
|
|
NM_000179.3(MSH6):c.470dup (p.Glu158fs)
|
rs1553411392
|
|
NM_000179.3(MSH6):c.472G>T (p.Glu158Ter)
|
|
|
NM_000179.3(MSH6):c.475G>A (p.Ala159Thr)
|
rs1553411396
|
|
NM_000179.3(MSH6):c.478C>T (p.Gln160Ter)
|
rs1114167692
|
|
NM_000179.3(MSH6):c.485dup (p.Gly163fs)
|
|
|
NM_000179.3(MSH6):c.496del (p.Tyr166fs)
|
rs1553411409
|
|
NM_000179.3(MSH6):c.496dup (p.Tyr166fs)
|
rs1553411409
|
|
NM_000179.3(MSH6):c.503C>T (p.Ala168Val)
|
rs774162322
|
|
NM_000179.3(MSH6):c.506dup (p.Pro170fs)
|
|
|
NM_000179.3(MSH6):c.511G>C (p.Glu171Gln)
|
rs1558656518
|
|
NM_000179.3(MSH6):c.520A>C (p.Arg174=)
|
rs1405000889
|
|
NM_000179.3(MSH6):c.522_523del (p.Arg174fs)
|
rs267608037
|
|
NM_000179.3(MSH6):c.524C>T (p.Ala175Val)
|
rs1060502929
|
|
NM_000179.3(MSH6):c.531A>T (p.Gln177His)
|
rs886056142
|
|
NM_000179.3(MSH6):c.533dup (p.Ala179fs)
|
|
|
NM_000179.3(MSH6):c.535G>T (p.Ala179Ser)
|
rs587781817
|
|
NM_000179.3(MSH6):c.542A>C (p.Glu181Ala)
|
rs1558656620
|
|
NM_000179.3(MSH6):c.545C>G (p.Ala182Gly)
|
rs876659786
|
|
NM_000179.3(MSH6):c.552_555del (p.Asn184fs)
|
rs1023534466
|
|
NM_000179.3(MSH6):c.553A>G (p.Lys185Glu)
|
rs193922344
|
|
NM_000179.3(MSH6):c.556G>T (p.Asp186Tyr)
|
rs1212607928
|
|
NM_000179.3(MSH6):c.55del (p.Asp19fs)
|
rs1553408127
|
|
NM_000179.3(MSH6):c.578del (p.Leu193fs)
|
rs587782281
|
|
NM_000179.3(MSH6):c.588_589del (p.Cys196_Asp197delinsTer)
|
|
|
NM_000179.3(MSH6):c.589G>C (p.Asp197His)
|
rs148517241
|
|
NM_000179.3(MSH6):c.58dup (p.Ala20fs)
|
rs1553408136
|
|
NM_000179.3(MSH6):c.597del (p.Ser200fs)
|
rs1572716454
|
|
NM_000179.3(MSH6):c.599C>A (p.Ser200Ter)
|
rs63751077
|
|
NM_000179.3(MSH6):c.599C>G (p.Ser200Ter)
|
rs63751077
|
|
NM_000179.3(MSH6):c.602_603del (p.Glu201fs)
|
rs587779945
|
|
NM_000179.3(MSH6):c.616_627+37delinsC
|
|
|
NM_000179.3(MSH6):c.619G>T (p.Glu207Ter)
|
rs1322095633
|
|
NM_000179.3(MSH6):c.61A>G (p.Asn21Asp)
|
rs1223476490
|
|
NM_000179.3(MSH6):c.622A>G (p.Met208Val)
|
rs369058374
|
|
NM_000179.3(MSH6):c.627+1G>A
|
rs1572716545
|
|
NM_000179.3(MSH6):c.627+1dup
|
rs2104241415
|
|
NM_000179.3(MSH6):c.627+26_627+37del
|
rs1558656848
|
|
NM_000179.3(MSH6):c.627+2_627+11del
|
|
|
NM_000179.3(MSH6):c.628-13C>G
|
rs538280815
|
|
NM_000179.3(MSH6):c.628-2A>C
|
|
|
NM_000179.3(MSH6):c.642C>A (p.Tyr214Ter)
|
rs1800937
|
|
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter)
|
rs1800937
|
|
NM_000179.3(MSH6):c.642del (p.Thr213_Tyr214insTer)
|
rs2104288054
|
|
NM_000179.3(MSH6):c.644dup (p.Thr216fs)
|
rs1572719776
|
|
NM_000179.3(MSH6):c.648_650delinsC (p.Thr216_Asp217insTer)
|
|
|
NM_000179.3(MSH6):c.651_655del (p.Asp217fs)
|
rs1669240720
|
|
NM_000179.3(MSH6):c.652A>T (p.Lys218Ter)
|
rs587779315
|
|
NM_000179.3(MSH6):c.652_653del (p.Lys218fs)
|
|
|
NM_000179.3(MSH6):c.663_667delinsTAC (p.Glu221fs)
|
rs1553412090
|
|
NM_000179.3(MSH6):c.664_671dup (p.Glu226fs)
|
|
|
NM_000179.3(MSH6):c.666_667del (p.Asp222fs)
|
|
|
NM_000179.3(MSH6):c.676G>T (p.Glu226Ter)
|
|
|
NM_000179.3(MSH6):c.677A>G (p.Glu226Gly)
|
rs587781777
|
|
NM_000179.3(MSH6):c.677dup (p.Ser227fs)
|
|
|
NM_000179.3(MSH6):c.679_680del (p.Glu226_Ser227insTer)
|
|
|
NM_000179.3(MSH6):c.682G>A (p.Glu228Lys)
|
rs587779947
|
|
NM_000179.3(MSH6):c.683A>T (p.Glu228Val)
|
|
|
NM_000179.3(MSH6):c.685G>T (p.Glu229Ter)
|
|
|
NM_000179.3(MSH6):c.688del (p.Glu230fs)
|
rs1669245178
|
|
NM_000179.3(MSH6):c.691del (p.Val231fs)
|
|
|
NM_000179.3(MSH6):c.693dup (p.Gln232fs)
|
|
|
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)
|
rs587779318
|
|
NM_000179.3(MSH6):c.698C>G (p.Pro233Arg)
|
rs142949377
|
|
NM_000179.3(MSH6):c.698dup (p.Pro233_Lys234insTer)
|
rs1553412120
|
|
NM_000179.3(MSH6):c.699_702dup (p.Thr235Ter)
|
|
|
NM_000179.3(MSH6):c.6_7delinsCT (p.Arg3Ter)
|
rs1558644683
|
|
NM_000179.3(MSH6):c.702_703insT (p.Thr235fs)
|
rs730881826
|
|
NM_000179.3(MSH6):c.702dup (p.Thr235fs)
|
|
|
NM_000179.3(MSH6):c.703dup (p.Thr235fs)
|
|
|
NM_000179.3(MSH6):c.706C>T (p.Gln236Ter)
|
rs63750996
|
|
NM_000179.3(MSH6):c.706_707del (p.Gln236fs)
|
rs1553412129
|
|
NM_000179.3(MSH6):c.706del (p.Gln236fs)
|
|
|
NM_000179.3(MSH6):c.710del (p.Gly237fs)
|
rs587779319
|
|
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)
|
rs63750019
|
|
NM_000179.3(MSH6):c.726C>A (p.Ser242Arg)
|
rs1553412151
|
|
NM_000179.3(MSH6):c.730C>T (p.Gln244Ter)
|
rs267608066
|
|
NM_000179.3(MSH6):c.733A>T (p.Ile245Leu)
|
rs762168786
|
|
NM_000179.3(MSH6):c.738_739insT (p.Lys247Ter)
|
rs587779320
|
|
NM_000179.3(MSH6):c.738_741del (p.Lys246fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.741del (p.Lys247fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.741dup (p.Arg248fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)
|
rs63749980
|
|
NM_000179.3(MSH6):c.742dup (p.Arg248fs)
|
rs1572720192
|
|
NM_000179.3(MSH6):c.745del (p.Arg249fs)
|
|
|
NM_000179.3(MSH6):c.748del (p.Val250fs)
|
|
|
NM_000179.3(MSH6):c.755C>G (p.Ser252Ter)
|
rs267608048
|
|
NM_000179.3(MSH6):c.757_758del (p.Asp253fs)
|
rs1669252923
|
|
NM_000179.3(MSH6):c.762_763del (p.Glu255_Ser256insTer)
|
rs267608072
|
|
NM_000179.3(MSH6):c.762dup (p.Glu255Ter)
|
rs1572720288
|
|
NM_000179.3(MSH6):c.766_767del (p.Glu255_Ser256insTer)
|
rs1114167704
|
|
NM_000179.3(MSH6):c.767del (p.Ser256fs)
|
|
|
NM_000179.3(MSH6):c.770dup (p.Asp257fs)
|
rs2104296608
|
|
NM_000179.3(MSH6):c.776del (p.Gly259fs)
|
|
|
NM_000179.3(MSH6):c.806C>G (p.Thr269Ser)
|
rs587779322
|
|
NM_000179.3(MSH6):c.807dup (p.Lys270Ter)
|
|
|
NM_000179.3(MSH6):c.814G>T (p.Glu272Ter)
|
rs63750552
|
|
NM_000179.3(MSH6):c.829G>T (p.Glu277Ter)
|
|
|
NM_000179.3(MSH6):c.837delinsTAGTGG (p.Gly283fs)
|
|
|
NM_000179.3(MSH6):c.838A>G (p.Ser280Gly)
|
rs1558659442
|
|
NM_000179.3(MSH6):c.841G>T (p.Gly281Ter)
|
|
|
NM_000179.3(MSH6):c.843_844insAC (p.Val282fs)
|
|
|
NM_000179.3(MSH6):c.843_847dup (p.Gly283fs)
|
rs1114167708
|
|
NM_000179.3(MSH6):c.845_848dup (p.Asp284fs)
|
|
|
NM_000179.3(MSH6):c.845dup (p.Asp284fs)
|
rs1553412283
|
|
NM_000179.3(MSH6):c.847_862del (p.Gly283fs)
|
|
|
NM_000179.3(MSH6):c.850_851insC (p.Asp284fs)
|
rs1572720562
|
|
NM_000179.3(MSH6):c.850dup (p.Asp284fs)
|
rs267608062
|
|
NM_000179.3(MSH6):c.856G>T (p.Glu286Ter)
|
rs1057520605
|
|
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)
|
rs267608079
|
|
NM_000179.3(MSH6):c.866del (p.Gly289fs)
|
|
|
NM_000179.3(MSH6):c.868del (p.Gly289_Leu290insTer)
|
rs2104302672
|
|
NM_000179.3(MSH6):c.872dup (p.Asn291fs)
|
|
|
NM_000179.3(MSH6):c.873_874del (p.Asn291fs)
|
rs1060502888
|
|
NM_000179.3(MSH6):c.878_883delinsTTCG (p.Pro293fs)
|
rs1114167748
|
|
NM_000179.3(MSH6):c.884A>T (p.Lys295Ile)
|
rs267608051
|
|
NM_000179.3(MSH6):c.885dup (p.Val296fs)
|
rs1572720704
|
|
NM_000179.3(MSH6):c.893G>A (p.Arg298Gln)
|
rs765237563
|
|
NM_000179.3(MSH6):c.896dup (p.Arg300fs)
|
|
|
NM_000179.3(MSH6):c.898_899del (p.Arg300fs)
|
|
|
NM_000179.3(MSH6):c.900del (p.Lys301fs)
|
rs863225421
|
|
NM_000179.3(MSH6):c.900dup (p.Lys301fs)
|
rs863225421
|
|
NM_000179.3(MSH6):c.901A>T (p.Lys301Ter)
|
rs1572720794
|
|
NM_000179.3(MSH6):c.901_902del (p.Lys301fs)
|
|
|
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)
|
rs587781510
|
|
NM_000179.3(MSH6):c.908dup (p.Met303fs)
|
rs1057517551
|
|
NM_000179.3(MSH6):c.909G>A (p.Met303Ile)
|
rs786201688
|
|
NM_000179.3(MSH6):c.911T>C (p.Val304Ala)
|
rs1481054050
|
|
NM_000179.3(MSH6):c.911_912insA (p.Thr305fs)
|
|
|
NM_000179.3(MSH6):c.921_922insAGCC (p.Gly308fs)
|
|
|
NM_000179.3(MSH6):c.923G>C (p.Gly308Ala)
|
rs1553412354
|
|
NM_000179.3(MSH6):c.929T>G (p.Leu310Arg)
|
rs777302246
|
|
NM_000179.3(MSH6):c.940del (p.Ser314fs)
|
rs2104307566
|
|
NM_000179.3(MSH6):c.952G>T (p.Glu318Ter)
|
rs1114167763
|
|
NM_000179.3(MSH6):c.962C>G (p.Ser321Ter)
|
rs1472853525
|
|
NM_000179.3(MSH6):c.962delinsAGAGCTAGTTGCT (p.Ser321Ter)
|
|
|
NM_000179.3(MSH6):c.971A>G (p.Lys324Arg)
|
rs1558659961
|
|
NM_000179.3(MSH6):c.975A>G (p.Gln325=)
|
rs193922345
|
|
NM_000179.3(MSH6):c.976_977insTTGCG (p.Ala326fs)
|
rs2104310469
|
|
NM_000179.3(MSH6):c.988dup (p.Ser330fs)
|
rs1553412409
|
|
NM_000179.3(MSH6):c.989C>A (p.Ser330Ter)
|
rs786202848
|
|
NM_000179.3(MSH6):c.999del (p.Lys334fs)
|
rs1060502932
|
|
NM_000179.3(MSH6):c.[3601C>G;3724C>A]
|
|
|
NM_000249.3(MLH1):c.(207+1_208-1)_(545+1_546-1)del (p.Lys70Valfs)
|
|
|
NM_000249.3(MLH1):c.(?_-198)_(*193_?)del
|
|
|
NM_000249.3(MLH1):c.(?_-198)_116+?del
|
|
|
NM_000249.3(MLH1):c.(?_-198)_1558+?del
|
|
|
NM_000249.3(MLH1):c.(?_-198)_545+?del
|
|
|
NM_000249.3(MLH1):c.(?_-198)_884+?del
|
|
|
NM_000249.3(MLH1):c.(?_1732)_(2271_?)del
|
|
|
NM_000249.3(MLH1):c.-107C>G
|
rs587778886
|
|
NM_000249.3(MLH1):c.-117G>T
|
rs565891017
|
|
NM_000249.3(MLH1):c.-381_207+606del
|
|
|
NM_000249.3(MLH1):c.-54519_1731+2263del
|
|
|
NM_000249.3(MLH1):c.-73960_*46597del
|
|
|
NM_000249.3(MLH1):c.-86G>A
|
rs558051715
|
|
NM_000249.3(MLH1):c.1039-?_(*193_?)del
|
|
|
NM_000249.3(MLH1):c.1039-?_1409+?del
|
|
|
NM_000249.3(MLH1):c.1039-?_1558+?del
|
|
|
NM_000249.3(MLH1):c.1163_1164ins4
|
|
|
NM_000249.3(MLH1):c.117-707_545+1338delinsTCCCGGGTTCAAGCGATTCT
|
|
|
NM_000249.3(MLH1):c.117-?_207+?del
|
|
|
NM_000249.3(MLH1):c.117-?_380+?del
|
|
|
NM_000249.3(MLH1):c.117-?_545+?del
|
|
|
NM_000249.3(MLH1):c.1325_1346del22ins5
|
|
|
NM_000249.3(MLH1):c.1410-?_(*193_?)del
|
|
|
NM_000249.3(MLH1):c.1410-?_1558+?del
|
|
|
NM_000249.3(MLH1):c.1410-?_1731+?del
|
|
|
NM_000249.3(MLH1):c.1558+3232_1558+3692delins2
|
|
|
NM_000249.3(MLH1):c.1559-?_(*193_?)del
|
|
|
NM_000249.3(MLH1):c.1559-?_1667+?del
|
|
|
NM_000249.3(MLH1):c.1559-?_1731+?del
|
|
|
NM_000249.3(MLH1):c.1668-?_1731+?del
|
|
|
NM_000249.3(MLH1):c.1668-?_1896+?del
|
|
|
NM_000249.3(MLH1):c.1668-?_2103+?dup
|
|
|
NM_000249.3(MLH1):c.1732-?_(*193_?)del
|
|
|
NM_000249.3(MLH1):c.1732-?_*193dup733
|
|
|
NM_000249.3(MLH1):c.1732-?_1896+?del
|
|
|
NM_000249.3(MLH1):c.1732-?_2103+?del
|
|
|
NM_000249.3(MLH1):c.1897-?_1989+?del
|
|
|
NM_000249.3(MLH1):c.1990-?_(*193_?)del
|
|
|
NM_000249.3(MLH1):c.207+1245_884+523dup
|
|
|
NM_000249.3(MLH1):c.207+1560_546-871del
|
|
|
NM_000249.3(MLH1):c.208-?_306+?del
|
|
|
NM_000249.3(MLH1):c.208-?_453+?del
|
|
|
NM_000249.3(MLH1):c.208-?_790+?del
|
|
|
NM_000249.3(MLH1):c.2104-?_*(193_?)del
|
|
|
NM_000249.3(MLH1):c.2104_2105delAG
|
rs63751651
|
|
NM_000249.3(MLH1):c.2221_2224delCTGCins30 (p.?)
|
|
|
NM_000249.3(MLH1):c.307-?_(*193_?)del
|
|
|
NM_000249.3(MLH1):c.307-?_1667+?dup
|
|
|
NM_000249.3(MLH1):c.307-?_380+?del
|
|
|
NM_000249.3(MLH1):c.307-?_545+?del
|
|
|
NM_000249.3(MLH1):c.381-?_545+?del
|
|
|
NM_000249.3(MLH1):c.381-?_677+?del
|
|
|
NM_000249.3(MLH1):c.454-?_1409+?dup
|
|
|
NM_000249.3(MLH1):c.454-?_545+?del
|
|
|
NM_000249.3(MLH1):c.512_513insAlu
|
|
|
NM_000249.3(MLH1):c.546-?_1409+?dup
|
|
|
NM_000249.3(MLH1):c.546-?_1731+?dup
|
|
|
NM_000249.3(MLH1):c.546-?_677+?del
|
|
|
NM_000249.3(MLH1):c.546-?_790+?del
|
|
|
NM_000249.3(MLH1):c.678-?_1558+?del
|
|
|
NM_000249.3(MLH1):c.678-?_884+?del
|
|
|
NM_000249.3(MLH1):c.791-?_1558+?del
|
|
|
NM_000249.3(MLH1):c.791-?_884+?del
|
|
|
NM_000249.3(MLH1):c.885-?_(*193_?)del
|
|
|
NM_000249.3(MLH1):c.885-?_1038+?del
|
|
|
NM_000249.3(MLH1):c.885-?_1731+?del
|
|
|
NM_000249.3(MLH1):c.[-27C>A;85G>T]
|
|
|
NM_000249.3(MLH1):c.[453+625_545+921delinsTG;545+1271_677+737delinsCA]
|
|
|
NM_000249.3:c.(1409+1_1410-1)_(1558+1_1559-1)del
|
|
|
NM_000249.3:c.(1896+1_1897-1)_*193del
|
|
|
NM_000249.3:c.(306+1_307-1)_(790+1_791-1)del
|
|
|
NM_000249.4(MLH1):c.*158GATT[1]
|
rs796807655
|
|
NM_000249.4(MLH1):c.*32C>T
|
rs200903126
|
|
NM_000249.4(MLH1):c.*32CTT[1]
|
rs193922366
|
|
NM_000249.4(MLH1):c.-167del
|
|
|
NM_000249.4(MLH1):c.-27C>A
|
rs587779001
|
|
NM_000249.4(MLH1):c.1003C>T (p.Leu335=)
|
rs267607812
|
|
NM_000249.4(MLH1):c.1003del (p.Leu335fs)
|
rs2082990862
|
|
NM_000249.4(MLH1):c.1006_1007del (p.Gly336fs)
|
|
|
NM_000249.4(MLH1):c.1007del (p.Gly336fs)
|
rs63750434
|
|
NM_000249.4(MLH1):c.100G>A (p.Glu34Lys)
|
rs1559500884
|
|
NM_000249.4(MLH1):c.100G>T (p.Glu34Ter)
|
|
|
NM_000249.4(MLH1):c.100_103del (p.Lys33_Glu34insTer)
|
|
|
NM_000249.4(MLH1):c.1010C>G (p.Ser337Cys)
|
rs763847201
|
|
NM_000249.4(MLH1):c.1011del (p.Asn338fs)
|
rs63750677
|
|
NM_000249.4(MLH1):c.1011dup (p.Asn338fs)
|
rs63750677
|
|
NM_000249.4(MLH1):c.1012A>G (p.Asn338Asp)
|
|
|
NM_000249.4(MLH1):c.1017del (p.Ser340fs)
|
rs63750339
|
|
NM_000249.4(MLH1):c.101A>C (p.Glu34Ala)
|
|
|
NM_000249.4(MLH1):c.1023del (p.Met342fs)
|
rs63749837
|
|
NM_000249.4(MLH1):c.1024_1038+1del
|
rs1553648201
|
|
NM_000249.4(MLH1):c.1026G>A (p.Met342Ile)
|
rs1060500704
|
|
NM_000249.4(MLH1):c.1026dup (p.Tyr343fs)
|
rs587778881
|
|
NM_000249.4(MLH1):c.1029C>G (p.Tyr343Ter)
|
rs1553648220
|
|
NM_000249.4(MLH1):c.1029del (p.Phe344fs)
|
rs876661059
|
|
NM_000249.4(MLH1):c.102_103del (p.Glu34fs)
|
rs63749813
|
|
NM_000249.4(MLH1):c.102_106del (p.Glu34fs)
|
|
|
NM_000249.4(MLH1):c.102del (p.Glu34_Met35insTer)
|
|
|
NM_000249.4(MLH1):c.1032del (p.Phe344fs)
|
rs1553648225
|
|
NM_000249.4(MLH1):c.1033_1038+13del
|
|
|
NM_000249.4(MLH1):c.1036C>T (p.Gln346Ter)
|
|
|
NM_000249.4(MLH1):c.1037A>G (p.Gln346Arg)
|
rs63751609
|
|
NM_000249.4(MLH1):c.1038+1G>A
|
rs267607816
|
|
NM_000249.4(MLH1):c.1038+1G>C
|
rs267607816
|
|
NM_000249.4(MLH1):c.1038+1G>T
|
|
|
NM_000249.4(MLH1):c.1038+4A>C
|
rs1251478879
|
|
NM_000249.4(MLH1):c.1038+86T>C
|
rs2286939
|
|
NM_000249.4(MLH1):c.1038+8C>T
|
rs751872237
|
|
NM_000249.4(MLH1):c.1038G>A (p.Gln346=)
|
rs63751715
|
|
NM_000249.4(MLH1):c.1038G>C (p.Gln346His)
|
rs63751715
|
|
NM_000249.4(MLH1):c.1038G>T (p.Gln346His)
|
rs63751715
|
|
NM_000249.4(MLH1):c.1039-1G>A
|
rs267607819
|
|
NM_000249.4(MLH1):c.1039-1G>C
|
rs267607819
|
|
NM_000249.4(MLH1):c.1039-1G>T
|
|
|
NM_000249.4(MLH1):c.1039-2329_1409+827del
|
|
|
NM_000249.4(MLH1):c.1039-2A>C
|
rs267607815
|
|
NM_000249.4(MLH1):c.1039-2A>G
|
rs267607815
|
|
NM_000249.4(MLH1):c.1039-2A>T
|
rs267607815
|
|
NM_000249.4(MLH1):c.1039-31_1039-26del
|
rs1178900468
|
|
NM_000249.4(MLH1):c.1039-3C>G
|
rs730881737
|
|
NM_000249.4(MLH1):c.1039-4A>G
|
rs368618417
|
|
NM_000249.4(MLH1):c.1039-674_1409+27del
|
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTAA
|
rs535965616
|
|
NM_000249.4(MLH1):c.1040C>T (p.Thr347Ile)
|
|
|
NM_000249.4(MLH1):c.1042_1043del (p.Leu348fs)
|
rs1060500703
|
|
NM_000249.4(MLH1):c.1043T>A (p.Leu348Ter)
|
|
|
NM_000249.4(MLH1):c.1043del (p.Leu348fs)
|
rs1060500703
|
|
NM_000249.4(MLH1):c.1046_1047delinsC (p.Leu349fs)
|
|
|
NM_000249.4(MLH1):c.1046dup (p.Pro350fs)
|
rs267607822
|
|
NM_000249.4(MLH1):c.1047_1049delinsT (p.Pro350fs)
|
rs1559551570
|
|
NM_000249.4(MLH1):c.1047dup (p.Pro350fs)
|
rs1060500707
|
|
NM_000249.4(MLH1):c.104T>G (p.Met35Arg)
|
rs63749906
|
|
NM_000249.4(MLH1):c.104_105delinsAC (p.Met35Asn)
|
rs121912965
|
|
NM_000249.4(MLH1):c.104_105insAA (p.Met35fs)
|
rs587778882
|
|
NM_000249.4(MLH1):c.1050del (p.Gly351fs)
|
rs587778883
|
|
NM_000249.4(MLH1):c.1051G>T (p.Gly351Ter)
|
rs1437454428
|
|
NM_000249.4(MLH1):c.1061del (p.Gly354fs)
|
rs63750472
|
|
NM_000249.4(MLH1):c.1071_1078del (p.Gly357_Glu358insTer)
|
rs587778884
|
|
NM_000249.4(MLH1):c.1072del (p.Glu358fs)
|
rs587778885
|
|
NM_000249.4(MLH1):c.1084del (p.Ser362fs)
|
|
|
NM_000249.4(MLH1):c.1088CAA[1] (p.Thr364del)
|
rs876660192
|
|
NM_000249.4(MLH1):c.108dup (p.Glu37Ter)
|
|
|
NM_000249.4(MLH1):c.1090del (p.Thr364fs)
|
rs876659226
|
|
NM_000249.4(MLH1):c.109G>A (p.Glu37Lys)
|
rs63751012
|
|
NM_000249.4(MLH1):c.109G>C (p.Glu37Gln)
|
rs63751012
|
|
NM_000249.4(MLH1):c.109G>T (p.Glu37Ter)
|
rs63751012
|
|
NM_000249.4(MLH1):c.1101del (p.Ser368fs)
|
rs63750715
|
|
NM_000249.4(MLH1):c.1105dup (p.Ser369fs)
|
rs1060500699
|
|
NM_000249.4(MLH1):c.1109del (p.Ser370fs)
|
|
|
NM_000249.4(MLH1):c.110A>G (p.Glu37Gly)
|
rs876658410
|
|
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)
|
rs766904735
|
|
NM_000249.4(MLH1):c.1117G>T (p.Gly373Ter)
|
|
|
NM_000249.4(MLH1):c.1121dup (p.Ser374fs)
|
|
|
NM_000249.4(MLH1):c.1122T>G (p.Ser374Arg)
|
rs759868546
|
|
NM_000249.4(MLH1):c.1127_1131del (p.Asp376fs)
|
|
|
NM_000249.4(MLH1):c.1128_1129dup (p.Lys377fs)
|
rs63750305
|
|
NM_000249.4(MLH1):c.1129A>G (p.Lys377Glu)
|
rs2083402714
|
|
NM_000249.4(MLH1):c.1129A>T (p.Lys377Ter)
|
rs2083402714
|
|
NM_000249.4(MLH1):c.112A>C (p.Asn38His)
|
rs63750580
|
|
NM_000249.4(MLH1):c.1132_1134delinsA (p.Val378fs)
|
rs587778887
|
|
NM_000249.4(MLH1):c.1132del (p.Val378fs)
|
rs2083403132
|
|
NM_000249.4(MLH1):c.1136A>G (p.Tyr379Cys)
|
rs143009528
|
|
NM_000249.4(MLH1):c.1139_1149del (p.Ala380fs)
|
rs2083404326
|
|
NM_000249.4(MLH1):c.113A>C (p.Asn38Thr)
|
rs587778888
|
|
NM_000249.4(MLH1):c.113A>G (p.Asn38Ser)
|
rs587778888
|
|
NM_000249.4(MLH1):c.1144C>T (p.Gln382Ter)
|
|
|
NM_000249.4(MLH1):c.1145dup (p.Met383fs)
|
rs587778889
|
|
NM_000249.4(MLH1):c.1147A>G (p.Met383Val)
|
rs1559552349
|
|
NM_000249.4(MLH1):c.1148T>G (p.Met383Arg)
|
|
|
NM_000249.4(MLH1):c.114C>A (p.Asn38Lys)
|
rs267607706
|
|
NM_000249.4(MLH1):c.114C>G (p.Asn38Lys)
|
rs267607706
|
|
NM_000249.4(MLH1):c.1150del (p.Val384fs)
|
rs63749965
|
|
NM_000249.4(MLH1):c.1152_1155dup (p.Thr386fs)
|
|
|
NM_000249.4(MLH1):c.1154G>C (p.Arg385Pro)
|
rs63750430
|
|
NM_000249.4(MLH1):c.116+1G>A
|
rs267607709
|
|
NM_000249.4(MLH1):c.116+1del
|
|
|
NM_000249.4(MLH1):c.116+27C>T
|
rs1575377948
|
|
NM_000249.4(MLH1):c.116+3A>T
|
|
|
NM_000249.4(MLH1):c.116+5G>C
|
rs267607710
|
|
NM_000249.4(MLH1):c.1164_1165del (p.Arg389fs)
|
|
|
NM_000249.4(MLH1):c.1168G>T (p.Glu390Ter)
|
rs886039423
|
|
NM_000249.4(MLH1):c.1168del (p.Glu390fs)
|
|
|
NM_000249.4(MLH1):c.1168dup (p.Glu390fs)
|
rs2083411159
|
|
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr)
|
rs63751701
|
|
NM_000249.4(MLH1):c.116G>T (p.Cys39Phe)
|
rs63751701
|
|
NM_000249.4(MLH1):c.117-1G>A
|
rs587779950
|
|
NM_000249.4(MLH1):c.117-1G>C
|
|
|
NM_000249.4(MLH1):c.117-1G>T
|
rs587779950
|
|
NM_000249.4(MLH1):c.117-1del
|
|
|
NM_000249.4(MLH1):c.117-2A>G
|
rs267607712
|
|
NM_000249.4(MLH1):c.117-2A>T
|
|
|
NM_000249.4(MLH1):c.117-43_117-39del
|
rs587778895
|
|
NM_000249.4(MLH1):c.117-691_306+1011del
|
|
|
NM_000249.4(MLH1):c.117-6T>A
|
rs2081158776
|
|
NM_000249.4(MLH1):c.117-7_121del
|
|
|
NM_000249.4(MLH1):c.1171C>T (p.Gln391Ter)
|
rs587778894
|
|
NM_000249.4(MLH1):c.1171_1193del (p.Gln391fs)
|
rs2083412120
|
|
NM_000249.4(MLH1):c.1181dup (p.Asp394fs)
|
|
|
NM_000249.4(MLH1):c.1182dup (p.Ala395fs)
|
|
|
NM_000249.4(MLH1):c.1187_1190del (p.Phe396fs)
|
|
|
NM_000249.4(MLH1):c.1190del (p.Leu397fs)
|
rs63750749
|
|
NM_000249.4(MLH1):c.1192C>T (p.Gln398Ter)
|
rs63750483
|
|
NM_000249.4(MLH1):c.119T>G (p.Leu40Ter)
|
|
|
NM_000249.4(MLH1):c.119_131delinsNNNNNNNNNNN (p.Leu40fs)
|
|
|
NM_000249.4(MLH1):c.119del (p.Cys39_Leu40insTer)
|
rs587778896
|
|
NM_000249.4(MLH1):c.11_12del (p.Val4fs)
|
|
|
NM_000249.4(MLH1):c.1204_1207dup (p.Pro403fs)
|
|
|
NM_000249.4(MLH1):c.1210C>T (p.Leu404=)
|
rs1057517538
|
|
NM_000249.4(MLH1):c.1210_1211del (p.Leu404fs)
|
rs63751015
|
|
NM_000249.4(MLH1):c.1210del (p.Leu404fs)
|
|
|
NM_000249.4(MLH1):c.1210dup (p.Leu404fs)
|
rs587778898
|
|
NM_000249.4(MLH1):c.1211del (p.Leu404fs)
|
|
|
NM_000249.4(MLH1):c.1217_1223dup (p.Gln409fs)
|
rs587778899
|
|
NM_000249.4(MLH1):c.1218del (p.Gln407fs)
|
rs587778900
|
|
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)
|
rs1057517541
|
|
NM_000249.4(MLH1):c.121G>C (p.Asp41His)
|
rs267607713
|
|
NM_000249.4(MLH1):c.1223C>A (p.Pro408His)
|
rs1241839317
|
|
NM_000249.4(MLH1):c.1225C>T (p.Gln409Ter)
|
rs63751153
|
|
NM_000249.4(MLH1):c.122A>G (p.Asp41Gly)
|
rs63751094
|
|
NM_000249.4(MLH1):c.122A>T (p.Asp41Val)
|
rs63751094
|
|
NM_000249.4(MLH1):c.1230_1232delinsTG (p.Ile411fs)
|
rs1575536219
|
|
NM_000249.4(MLH1):c.1233_1254dup (p.Ile419delinsCysHisArgGlyTer)
|
rs1575536254
|
|
NM_000249.4(MLH1):c.1239dup (p.Glu414fs)
|
rs2125883954
|
|
NM_000249.4(MLH1):c.1241_1242del (p.Glu414fs)
|
rs2083425688
|
|
NM_000249.4(MLH1):c.1243delinsTT (p.Asp415fs)
|
|
|
NM_000249.4(MLH1):c.1246A>T (p.Lys416Ter)
|
rs267607823
|
|
NM_000249.4(MLH1):c.1250_1251del (p.Thr417fs)
|
|
|
NM_000249.4(MLH1):c.1252_1253del (p.Asp418fs)
|
rs63751118
|
|
NM_000249.4(MLH1):c.1253A>G (p.Asp418Gly)
|
rs754898711
|
|
NM_000249.4(MLH1):c.1255del (p.Ile419fs)
|
|
|
NM_000249.4(MLH1):c.1258del (p.Ser420fs)
|
rs863225373
|
|
NM_000249.4(MLH1):c.1259C>T (p.Ser420Phe)
|
rs63751179
|
|
NM_000249.4(MLH1):c.125C>T (p.Ala42Val)
|
rs587778901
|
|
NM_000249.4(MLH1):c.1261del (p.Ser421fs)
|
rs63750293
|
|
NM_000249.4(MLH1):c.1266C>T (p.Gly422=)
|
rs63750791
|
|
NM_000249.4(MLH1):c.1267A>G (p.Arg423Gly)
|
rs1392665848
|
|
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys)
|
rs370687064
|
|
NM_000249.4(MLH1):c.1275dup (p.Gln426fs)
|
rs2125884574
|
|
NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter)
|
rs63750316
|
|
NM_000249.4(MLH1):c.1278_1279insTG (p.Gln427fs)
|
rs1559553492
|
|
NM_000249.4(MLH1):c.1279C>T (p.Gln427Ter)
|
rs1559553501
|
|
NM_000249.4(MLH1):c.1281del (p.Asp428fs)
|
rs1575536988
|
|
NM_000249.4(MLH1):c.1285GAG[1] (p.Glu430del)
|
rs1064795262
|
|
NM_000249.4(MLH1):c.1286_1293del (p.Glu429fs)
|
|
|
NM_000249.4(MLH1):c.1287_1288insC (p.Glu430fs)
|
|
|
NM_000249.4(MLH1):c.1288G>T (p.Glu430Ter)
|
|
|
NM_000249.4(MLH1):c.128_131dup (p.Thr45fs)
|
rs63751431
|
|
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter)
|
rs63750443
|
|
NM_000249.4(MLH1):c.1297del (p.Glu433fs)
|
|
|
NM_000249.4(MLH1):c.1304_1305delinsTGCTGAAGTGGCT (p.Pro435fs)
|
rs1553651299
|
|
NM_000249.4(MLH1):c.1310del (p.Pro437fs)
|
rs63750748
|
|
NM_000249.4(MLH1):c.1315G>T (p.Glu439Ter)
|
rs1302248679
|
|
NM_000249.4(MLH1):c.131C>A (p.Ser44Tyr)
|
rs63751109
|
|
NM_000249.4(MLH1):c.131C>T (p.Ser44Phe)
|
rs63751109
|
|
NM_000249.4(MLH1):c.1325C>A (p.Ala442Asp)
|
rs765563111
|
|
NM_000249.4(MLH1):c.1325_1346delinsATTTT (p.Ala442fs)
|
rs587778903
|
|
NM_000249.4(MLH1):c.1331del (p.Asn444fs)
|
|
|
NM_000249.4(MLH1):c.1331dup (p.Asn444fs)
|
rs2083443709
|
|
NM_000249.4(MLH1):c.1333C>T (p.Gln445Ter)
|
rs1575537843
|
|
NM_000249.4(MLH1):c.1334del (p.Gln445fs)
|
rs63749845
|
|
NM_000249.4(MLH1):c.1336_1337del (p.Ser446fs)
|
rs1114167435
|
|
NM_000249.4(MLH1):c.133A>G (p.Thr45Ala)
|
rs876658416
|
|
NM_000249.4(MLH1):c.133del (p.Thr45fs)
|
|
|
NM_000249.4(MLH1):c.1342G>T (p.Glu448Ter)
|
rs1575537933
|
|
NM_000249.4(MLH1):c.1343_1344insC (p.Glu448fs)
|
|
|
NM_000249.4(MLH1):c.1343del (p.Glu448fs)
|
rs63749981
|
|
NM_000249.4(MLH1):c.1347_1367delinsTAAA (p.Asp450fs)
|
rs587778905
|
|
NM_000249.4(MLH1):c.1348dup (p.Asp450fs)
|
rs587778906
|
|
NM_000249.4(MLH1):c.134_136del (p.Thr45del)
|
|
|
NM_000249.4(MLH1):c.1350_1351dup (p.Thr451fs)
|
|
|
NM_000249.4(MLH1):c.1354del (p.Thr452fs)
|
rs63750071
|
|
NM_000249.4(MLH1):c.1358del (p.Lys453fs)
|
|
|
NM_000249.4(MLH1):c.1358dup (p.Thr455fs)
|
rs1553651429
|
|
NM_000249.4(MLH1):c.1362del (p.Thr455fs)
|
rs267607821
|
|
NM_000249.4(MLH1):c.1362dup (p.Thr455fs)
|
rs267607821
|
|
NM_000249.4(MLH1):c.1367C>A (p.Ser456Ter)
|
|
|
NM_000249.4(MLH1):c.1367C>G (p.Ser456Ter)
|
|
|
NM_000249.4(MLH1):c.1367del (p.Thr455_Ser456insTer)
|
rs2125886267
|
|
NM_000249.4(MLH1):c.1377del (p.Glu460fs)
|
rs587778908
|
|
NM_000249.4(MLH1):c.1377dup (p.Glu460fs)
|
rs63750020
|
|
NM_000249.4(MLH1):c.1378G>T (p.Glu460Ter)
|
rs756843954
|
|
NM_000249.4(MLH1):c.1380_1381del (p.Lys461fs)
|
rs587778909
|
|
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)
|
rs63750540
|
|
NM_000249.4(MLH1):c.1387G>T (p.Gly463Ter)
|
rs1559554339
|
|
NM_000249.4(MLH1):c.1398del (p.Ser467fs)
|
rs63750713
|
|
NM_000249.4(MLH1):c.139A>G (p.Ile47Val)
|
rs1559505924
|
|
NM_000249.4(MLH1):c.1400del (p.Ser467fs)
|
rs1064795515
|
|
NM_000249.4(MLH1):c.1408A>T (p.Arg470Ter)
|
rs2125887070
|
|
NM_000249.4(MLH1):c.1409+1127_1558+4255del
|
|
|
NM_000249.4(MLH1):c.1409+1156_1558+1385del
|
|
|
NM_000249.4(MLH1):c.1409+1G>A
|
rs267607825
|
|
NM_000249.4(MLH1):c.1409+1G>C
|
rs267607825
|
|
NM_000249.4(MLH1):c.1409+1G>T
|
rs267607825
|
|
NM_000249.4(MLH1):c.1409+1_1409+6del
|
rs1057517617
|
|
NM_000249.4(MLH1):c.1409+2T>G
|
rs587778911
|
|
NM_000249.4(MLH1):c.1410-16_1420del
|
|
|
NM_000249.4(MLH1):c.1410-1G>A
|
|
|
NM_000249.4(MLH1):c.1410-2A>G
|
rs746536721
|
|
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC
|
rs1559558071
|
|
NM_000249.4(MLH1):c.1410-8C>T
|
rs1057521668
|
|
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs)
|
rs63751592
|
|
NM_000249.4(MLH1):c.1412dup (p.Arg472fs)
|
rs63751677
|
|
NM_000249.4(MLH1):c.1413_1416del (p.Lys471fs)
|
rs281864936
|
|
NM_000249.4(MLH1):c.1413_1416dup (p.His473fs)
|
|
|
NM_000249.4(MLH1):c.1414dup (p.Arg472fs)
|
rs63751468
|
|
NM_000249.4(MLH1):c.1415_1416del (p.Arg472fs)
|
rs281864936
|
|
NM_000249.4(MLH1):c.1415_1427del (p.Arg472fs)
|
rs587778912
|
|
NM_000249.4(MLH1):c.1416dup (p.His473fs)
|
rs1553652883
|
|
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly)
|
rs147939838
|
|
NM_000249.4(MLH1):c.1420C>T (p.Arg474Trp)
|
rs147939838
|
|
NM_000249.4(MLH1):c.1420del (p.Arg474fs)
|
rs63750482
|
|
NM_000249.4(MLH1):c.1423G>T (p.Glu475Ter)
|
|
|
NM_000249.4(MLH1):c.1429del (p.Ser477fs)
|
|
|
NM_000249.4(MLH1):c.142C>T (p.Gln48Ter)
|
rs587778913
|
|
NM_000249.4(MLH1):c.1432del (p.Asp478fs)
|
|
|
NM_000249.4(MLH1):c.1435_1453del (p.Val479fs)
|
rs2125901597
|
|
NM_000249.4(MLH1):c.143A>C (p.Gln48Pro)
|
rs587778914
|
|
NM_000249.4(MLH1):c.1441A>G (p.Met481Val)
|
rs559012648
|
|
NM_000249.4(MLH1):c.1441del (p.Met481fs)
|
rs878853777
|
|
NM_000249.4(MLH1):c.1447G>T (p.Glu483Ter)
|
|
|
NM_000249.4(MLH1):c.1449del (p.Asp484fs)
|
rs587778915
|
|
NM_000249.4(MLH1):c.1453G>T (p.Asp485Tyr)
|
rs63750314
|
|
NM_000249.4(MLH1):c.1456dup (p.Ser486fs)
|
rs878853778
|
|
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)
|
rs63749795
|
|
NM_000249.4(MLH1):c.1462A>T (p.Lys488Ter)
|
rs587778918
|
|
NM_000249.4(MLH1):c.1463del (p.Lys488fs)
|
rs63749876
|
|
NM_000249.4(MLH1):c.1464_1468del (p.Lys488fs)
|
rs587778919
|
|
NM_000249.4(MLH1):c.146T>A (p.Val49Glu)
|
rs63750098
|
|
NM_000249.4(MLH1):c.1478del (p.Ala493fs)
|
rs2083706682
|
|
NM_000249.4(MLH1):c.1484C>T (p.Thr495Ile)
|
rs1060500685
|
|
NM_000249.4(MLH1):c.1487C>G (p.Pro496Arg)
|
rs63750226
|
|
NM_000249.4(MLH1):c.1489_1490insCG (p.Arg497fs)
|
rs1553653037
|
|
NM_000249.4(MLH1):c.1489del (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1491del (p.Arg498fs)
|
rs63751435
|
|
NM_000249.4(MLH1):c.1491dup (p.Arg498fs)
|
rs63751435
|
|
NM_000249.4(MLH1):c.1499del (p.Ile500fs)
|
rs2125902731
|
|
NM_000249.4(MLH1):c.1500_1502del (p.Ile501del)
|
rs587778920
|
|
NM_000249.4(MLH1):c.1502T>G (p.Ile501Ser)
|
rs587780679
|
|
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs)
|
rs1553653084
|
|
NM_000249.4(MLH1):c.150dup (p.Val51fs)
|
rs63749956
|
|
NM_000249.4(MLH1):c.1516_1517del (p.Val506fs)
|
rs1553653115
|
|
NM_000249.4(MLH1):c.1520del (p.Val506_Leu507insTer)
|
rs63749916
|
|
NM_000249.4(MLH1):c.1520dup (p.Leu507fs)
|
rs63749916
|
|
NM_000249.4(MLH1):c.1522_1523del (p.Leu509fs)
|
rs876658821
|
|
NM_000249.4(MLH1):c.1524T>G (p.Ser508Arg)
|
rs886058383
|
|
NM_000249.4(MLH1):c.1528C>T (p.Gln510Ter)
|
rs63749923
|
|
NM_000249.4(MLH1):c.1528_1532delinsACTAGTTTG (p.Gln510fs)
|
rs2083718945
|
|
NM_000249.4(MLH1):c.152T>A (p.Val51Asp)
|
rs1553638767
|
|
NM_000249.4(MLH1):c.1530_1534del (p.Glu511fs)
|
|
|
NM_000249.4(MLH1):c.1534G>T (p.Glu512Ter)
|
rs63751472
|
|
NM_000249.4(MLH1):c.153dup (p.Lys52Ter)
|
rs587778922
|
|
NM_000249.4(MLH1):c.1542dup (p.Glu515Ter)
|
rs63750317
|
|
NM_000249.4(MLH1):c.1543G>T (p.Glu515Ter)
|
|
|
NM_000249.4(MLH1):c.1546C>T (p.Gln516Ter)
|
rs1553653195
|
|
NM_000249.4(MLH1):c.1547dup (p.His518fs)
|
|
|
NM_000249.4(MLH1):c.1549G>T (p.Gly517Ter)
|
rs63751705
|
|
NM_000249.4(MLH1):c.154A>T (p.Lys52Ter)
|
|
|
NM_000249.4(MLH1):c.154_158del (p.Lys52fs)
|
|
|
NM_000249.4(MLH1):c.1552_1553insT (p.His518fs)
|
rs587778924
|
|
NM_000249.4(MLH1):c.1552del (p.His518fs)
|
rs587778925
|
|
NM_000249.4(MLH1):c.1554dup (p.Glu519Ter)
|
rs63751689
|
|
NM_000249.4(MLH1):c.1557_1558insT (p.Val520fs)
|
rs587778926
|
|
NM_000249.4(MLH1):c.1558+1G>A
|
rs267607832
|
|
NM_000249.4(MLH1):c.1558+1G>T
|
rs267607832
|
|
NM_000249.4(MLH1):c.1558+1del
|
|
|
NM_000249.4(MLH1):c.1558+1dup
|
rs1553653237
|
|
NM_000249.4(MLH1):c.1558+2T>A
|
rs267607831
|
|
NM_000249.4(MLH1):c.1558+2T>C
|
rs267607831
|
|
NM_000249.4(MLH1):c.1558+2T>G
|
rs267607831
|
|
NM_000249.4(MLH1):c.1559-11T>C
|
rs730881750
|
|
NM_000249.4(MLH1):c.1559-1322_1668-391del
|
|
|
NM_000249.4(MLH1):c.1559-16A>T
|
rs769709911
|
|
NM_000249.4(MLH1):c.1559-1G>A
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-1G>C
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-1G>T
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-2A>C
|
rs267607836
|
|
NM_000249.4(MLH1):c.1559-2A>G
|
rs267607836
|
|
NM_000249.4(MLH1):c.1559-2A>T
|
rs267607836
|
|
NM_000249.4(MLH1):c.155_156del (p.Lys52fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.155_158del (p.Lys52fs)
|
rs587778923
|
|
NM_000249.4(MLH1):c.1568del (p.Glu523fs)
|
|
|
NM_000249.4(MLH1):c.1568dup (p.Met524fs)
|
rs2084634023
|
|
NM_000249.4(MLH1):c.1569del (p.Met524fs)
|
rs1559574795
|
|
NM_000249.4(MLH1):c.156del (p.Glu53fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.156dup (p.Glu53fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.1572G>C (p.Met524Ile)
|
rs587779953
|
|
NM_000249.4(MLH1):c.1572G>T (p.Met524Ile)
|
rs587779953
|
|
NM_000249.4(MLH1):c.1572_1573del (p.Met524fs)
|
rs587778928
|
|
NM_000249.4(MLH1):c.1573_1574del (p.Leu525fs)
|
rs63751613
|
|
NM_000249.4(MLH1):c.1574T>A (p.Leu525Ter)
|
rs587778929
|
|
NM_000249.4(MLH1):c.157G>T (p.Glu53Ter)
|
|
|
NM_000249.4(MLH1):c.1581_1582del (p.Asn527fs)
|
|
|
NM_000249.4(MLH1):c.1582_1583insGGTT (p.His528fs)
|
|
|
NM_000249.4(MLH1):c.1582del (p.His528fs)
|
|
|
NM_000249.4(MLH1):c.1587C>T (p.Ser529=)
|
rs767089159
|
|
NM_000249.4(MLH1):c.1588_1590del (p.Phe530del)
|
rs587778930
|
|
NM_000249.4(MLH1):c.1589_1597del (p.Phe530_Gly532del)
|
|
|
NM_000249.4(MLH1):c.1589_1608del (p.Phe530fs)
|
|
|
NM_000249.4(MLH1):c.1591del (p.Val531fs)
|
rs1553658009
|
|
NM_000249.4(MLH1):c.1592_1593del (p.Val531fs)
|
rs587778931
|
|
NM_000249.4(MLH1):c.1595G>A (p.Gly532Asp)
|
rs2084640841
|
|
NM_000249.4(MLH1):c.1597_1616del (p.Cys533fs)
|
|
|
NM_000249.4(MLH1):c.1597del (p.Cys533fs)
|
rs1559575107
|
|
NM_000249.4(MLH1):c.1598G>C (p.Cys533Ser)
|
rs564240478
|
|
NM_000249.4(MLH1):c.1598_1608dup (p.Gln537delinsValTer)
|
|
|
NM_000249.4(MLH1):c.15_28del (p.Gly6fs)
|
rs63751891
|
|
NM_000249.4(MLH1):c.1601_1602del (p.Val534fs)
|
|
|
NM_000249.4(MLH1):c.1609C>T (p.Gln537Ter)
|
rs63751277
|
|
NM_000249.4(MLH1):c.1609del (p.Gln537fs)
|
|
|
NM_000249.4(MLH1):c.1612T>G (p.Trp538Gly)
|
rs1559575214
|
|
NM_000249.4(MLH1):c.1612del (p.Trp538fs)
|
rs2084643841
|
|
NM_000249.4(MLH1):c.1613G>A (p.Trp538Ter)
|
rs587778933
|
|
NM_000249.4(MLH1):c.1614G>A (p.Trp538Ter)
|
rs267607842
|
|
NM_000249.4(MLH1):c.1615G>T (p.Ala539Ser)
|
rs1559575256
|
|
NM_000249.4(MLH1):c.1616C>A (p.Ala539Asp)
|
rs267607843
|
|
NM_000249.4(MLH1):c.1616_1619del (p.Ala539fs)
|
rs2084645057
|
|
NM_000249.4(MLH1):c.161_164del (p.Gly54fs)
|
rs587778932
|
|
NM_000249.4(MLH1):c.161del (p.Gly54fs)
|
rs63751266
|
|
NM_000249.4(MLH1):c.1620G>A (p.Leu540=)
|
rs786202409
|
|
NM_000249.4(MLH1):c.1620_1621del (p.Leu540fs)
|
rs63750036
|
|
NM_000249.4(MLH1):c.1622del (p.Ala541fs)
|
rs63750824
|
|
NM_000249.4(MLH1):c.1624C>T (p.Gln542Ter)
|
rs63750192
|
|
NM_000249.4(MLH1):c.1633dup (p.Thr545fs)
|
rs1553658104
|
|
NM_000249.4(MLH1):c.1635dup (p.Lys546fs)
|
|
|
NM_000249.4(MLH1):c.1639_1643dup (p.Leu549fs)
|
rs587778934
|
|
NM_000249.4(MLH1):c.1640T>A (p.Leu547Ter)
|
rs63750300
|
|
NM_000249.4(MLH1):c.1640T>G (p.Leu547Ter)
|
rs63750300
|
|
NM_000249.4(MLH1):c.1643_1649del (p.Tyr548fs)
|
|
|
NM_000249.4(MLH1):c.1644C>A (p.Tyr548Ter)
|
|
|
NM_000249.4(MLH1):c.1644C>G (p.Tyr548Ter)
|
rs63751087
|
|
NM_000249.4(MLH1):c.1645del (p.Leu549fs)
|
|
|
NM_000249.4(MLH1):c.1646T>C (p.Leu549Pro)
|
rs63750289
|
|
NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro)
|
rs63750193
|
|
NM_000249.4(MLH1):c.1653C>T (p.Asn551=)
|
rs587778936
|
|
NM_000249.4(MLH1):c.1653del (p.Asn551fs)
|
|
|
NM_000249.4(MLH1):c.1654dup (p.Thr552fs)
|
|
|
NM_000249.4(MLH1):c.1656del (p.Thr553fs)
|
rs876660589
|
|
NM_000249.4(MLH1):c.1656dup (p.Thr553fs)
|
|
|
NM_000249.4(MLH1):c.1661del (p.Lys554fs)
|
|
|
NM_000249.4(MLH1):c.1664T>C (p.Leu555Pro)
|
rs587778937
|
|
NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg)
|
rs587778937
|
|
NM_000249.4(MLH1):c.1664_1665insAAGT (p.Ser556_Glu557insTer)
|
rs267607699
|
|
NM_000249.4(MLH1):c.1667+1G>A
|
rs1434898623
|
|
NM_000249.4(MLH1):c.1667+1G>C
|
|
|
NM_000249.4(MLH1):c.1667+1G>T
|
|
|
NM_000249.4(MLH1):c.1667+1_1667+8delinsATTT
|
rs863223312
|
|
NM_000249.4(MLH1):c.1667+2T>A
|
|
|
NM_000249.4(MLH1):c.1667+2T>C
|
rs878853780
|
|
NM_000249.4(MLH1):c.1667+2T>G
|
|
|
NM_000249.4(MLH1):c.1667+2_1667+8delinsATTT
|
rs587778938
|
|
NM_000249.4(MLH1):c.1667+4A>C
|
rs983986337
|
|
NM_000249.4(MLH1):c.1667+4A>G
|
rs983986337
|
|
NM_000249.4(MLH1):c.1667+8A>C
|
rs1553658260
|
|
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)
|
rs63751596
|
|
NM_000249.4(MLH1):c.1667G>T (p.Ser556Ile)
|
rs63751596
|
|
NM_000249.4(MLH1):c.1668-1G>A
|
rs267607845
|
|
NM_000249.4(MLH1):c.1668-1G>C
|
|
|
NM_000249.4(MLH1):c.1668-1G>T
|
rs267607845
|
|
NM_000249.4(MLH1):c.1668-2A>C
|
rs1559578422
|
|
NM_000249.4(MLH1):c.1668-2A>G
|
rs1559578422
|
|
NM_000249.4(MLH1):c.1668-3C>A
|
rs267607844
|
|
NM_000249.4(MLH1):c.1668-5T>G
|
rs1559578408
|
|
NM_000249.4(MLH1):c.1668del (p.Ser556fs)
|
rs587778939
|
|
NM_000249.4(MLH1):c.1669G>T (p.Glu557Ter)
|
rs63751244
|
|
NM_000249.4(MLH1):c.1672G>T (p.Glu558Ter)
|
rs63751081
|
|
NM_000249.4(MLH1):c.1673_1676dup (p.Phe560fs)
|
|
|
NM_000249.4(MLH1):c.1676T>C (p.Leu559Pro)
|
rs63750059
|
|
NM_000249.4(MLH1):c.1676T>G (p.Leu559Arg)
|
rs63750059
|
|
NM_000249.4(MLH1):c.1683C>G (p.Tyr561Ter)
|
rs63751393
|
|
NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter)
|
rs63751460
|
|
NM_000249.4(MLH1):c.1685A>C (p.Gln562Pro)
|
rs1553659377
|
|
NM_000249.4(MLH1):c.1685del (p.Gln562fs)
|
|
|
NM_000249.4(MLH1):c.1688_1689del (p.Ile563fs)
|
rs863225376
|
|
NM_000249.4(MLH1):c.1689_1713del (p.Ile563fs)
|
|
|
NM_000249.4(MLH1):c.1689dup (p.Leu564fs)
|
rs63750464
|
|
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe)
|
rs786202693
|
|
NM_000249.4(MLH1):c.1690_1693del (p.Leu564fs)
|
rs267607849
|
|
NM_000249.4(MLH1):c.1691T>G (p.Leu564Arg)
|
|
|
NM_000249.4(MLH1):c.1695_1698del (p.Ile565fs)
|
rs2125957613
|
|
NM_000249.4(MLH1):c.1698T>A (p.Tyr566Ter)
|
rs876658915
|
|
NM_000249.4(MLH1):c.169A>T (p.Lys57Ter)
|
|
|
NM_000249.4(MLH1):c.1704del (p.Phe568fs)
|
|
|
NM_000249.4(MLH1):c.1706C>T (p.Ala569Val)
|
rs1559578814
|
|
NM_000249.4(MLH1):c.1707del (p.Asn570fs)
|
rs2125957824
|
|
NM_000249.4(MLH1):c.170del (p.Lys57fs)
|
|
|
NM_000249.4(MLH1):c.1714G>A (p.Gly572Ser)
|
rs587781796
|
|
NM_000249.4(MLH1):c.1717_1718del (p.Val573fs)
|
rs63751709
|
|
NM_000249.4(MLH1):c.1719del (p.Leu574fs)
|
rs863225377
|
|
NM_000249.4(MLH1):c.1721T>C (p.Leu574Pro)
|
rs63751608
|
|
NM_000249.4(MLH1):c.1725del (p.Arg575fs)
|
rs63751685
|
|
NM_000249.4(MLH1):c.1727dup (p.Leu576fs)
|
|
|
NM_000249.4(MLH1):c.1728del (p.Leu576fs)
|
|
|
NM_000249.4(MLH1):c.1730C>A (p.Ser577Ter)
|
rs56185292
|
|
NM_000249.4(MLH1):c.1731+11A>T
|
rs886058384
|
|
NM_000249.4(MLH1):c.1731+1G>A
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+1G>C
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+1G>T
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+2247_1897-402del
|
|
|
NM_000249.4(MLH1):c.1731+270_1896+73del
|
|
|
NM_000249.4(MLH1):c.1731+2T>C
|
rs267607856
|
|
NM_000249.4(MLH1):c.1731+2T>G
|
rs267607856
|
|
NM_000249.4(MLH1):c.1731+2dup
|
|
|
NM_000249.4(MLH1):c.1731+3A>C
|
rs267607851
|
|
NM_000249.4(MLH1):c.1731+3A>T
|
rs267607851
|
|
NM_000249.4(MLH1):c.1731+5G>A
|
rs267607850
|
|
NM_000249.4(MLH1):c.1731+5_1731+6delinsCC
|
rs2125958437
|
|
NM_000249.4(MLH1):c.1731+6T>G
|
rs587778940
|
|
NM_000249.4(MLH1):c.1731+768_1897-222del
|
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1731G>T (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1732-1G>A
|
rs267607854
|
|
NM_000249.4(MLH1):c.1732-2243_1896+404del
|
|
|
NM_000249.4(MLH1):c.1732-2A>C
|
rs267607852
|
|
NM_000249.4(MLH1):c.1732-2A>G
|
rs267607852
|
|
NM_000249.4(MLH1):c.1732-2A>T
|
rs267607852
|
|
NM_000249.4(MLH1):c.1732-9T>C
|
rs267607857
|
|
NM_000249.4(MLH1):c.1738G>C (p.Ala580Pro)
|
rs864622530
|
|
NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs)
|
rs1553662622
|
|
NM_000249.4(MLH1):c.1745T>C (p.Leu582Pro)
|
rs63751616
|
|
NM_000249.4(MLH1):c.1745_1758del (p.Leu582fs)
|
rs1575620443
|
|
NM_000249.4(MLH1):c.1745del (p.Leu582fs)
|
rs587778942
|
|
NM_000249.4(MLH1):c.1746del (p.Phe583fs)
|
rs876659068
|
|
NM_000249.4(MLH1):c.1748_1749del (p.Leu582_Phe583insTer)
|
rs63750309
|
|
NM_000249.4(MLH1):c.1749del (p.Phe583fs)
|
rs63750309
|
|
NM_000249.4(MLH1):c.174_175delinsT (p.Leu58fs)
|
rs876660860
|
|
NM_000249.4(MLH1):c.1754T>C (p.Leu585Pro)
|
rs267607865
|
|
NM_000249.4(MLH1):c.1757C>A (p.Ala586Asp)
|
rs63750587
|
|
NM_000249.4(MLH1):c.1757C>T (p.Ala586Val)
|
rs63750587
|
|
NM_000249.4(MLH1):c.1758del (p.Met587fs)
|
rs63749863
|
|
NM_000249.4(MLH1):c.1758dup (p.Met587fs)
|
rs63749863
|
|
NM_000249.4(MLH1):c.1759_1763del (p.Met587fs)
|
|
|
NM_000249.4(MLH1):c.175dup (p.Ile59fs)
|
rs587778944
|
|
NM_000249.4(MLH1):c.1761dup (p.Leu588fs)
|
|
|
NM_000249.4(MLH1):c.1762_1768dup (p.Leu590fs)
|
rs2125984506
|
|
NM_000249.4(MLH1):c.1764del (p.Ala589fs)
|
rs63751486
|
|
NM_000249.4(MLH1):c.1765G>C (p.Ala589Pro)
|
|
|
NM_000249.4(MLH1):c.1766C>A (p.Ala589Asp)
|
rs63750016
|
|
NM_000249.4(MLH1):c.1766C>T (p.Ala589Val)
|
rs63750016
|
|
NM_000249.4(MLH1):c.1767del (p.Ala589_Leu590insTer)
|
|
|
NM_000249.4(MLH1):c.1769T>A (p.Leu590Ter)
|
|
|
NM_000249.4(MLH1):c.1769del (p.Ala589_Leu590insTer)
|
rs63749979
|
|
NM_000249.4(MLH1):c.176T>A (p.Ile59Asn)
|
rs1559506199
|
|
NM_000249.4(MLH1):c.1770dup (p.Asp591fs)
|
|
|
NM_000249.4(MLH1):c.1771del (p.Asp591fs)
|
|
|
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs)
|
rs63749868
|
|
NM_000249.4(MLH1):c.1774A>G (p.Ser592Gly)
|
rs2125984638
|
|
NM_000249.4(MLH1):c.1775G>A (p.Ser592Asn)
|
rs587782621
|
|
NM_000249.4(MLH1):c.1778_1779del (p.Pro593fs)
|
rs63750375
|
|
NM_000249.4(MLH1):c.1778del (p.Pro593fs)
|
|
|
NM_000249.4(MLH1):c.177del (p.Gln60fs)
|
|
|
NM_000249.4(MLH1):c.1781del (p.Glu594fs)
|
|
|
NM_000249.4(MLH1):c.1782G>C (p.Glu594Asp)
|
rs915595144
|
|
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs)
|
rs63750035
|
|
NM_000249.4(MLH1):c.1789_1790insATCT (p.Trp597fs)
|
|
|
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter)
|
rs63750604
|
|
NM_000249.4(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs)
|
rs863225378
|
|
NM_000249.4(MLH1):c.1791G>A (p.Trp597Ter)
|
rs1416171624
|
|
NM_000249.4(MLH1):c.1791G>T (p.Trp597Cys)
|
rs1416171624
|
|
NM_000249.4(MLH1):c.1799A>G (p.Glu600Gly)
|
rs267607861
|
|
NM_000249.4(MLH1):c.17G>T (p.Gly6Val)
|
|
|
NM_000249.4(MLH1):c.1800_1818del (p.Glu600fs)
|
rs587778946
|
|
NM_000249.4(MLH1):c.1802A>G (p.Asp601Gly)
|
rs63750718
|
|
NM_000249.4(MLH1):c.1808C>T (p.Pro603Leu)
|
rs63750876
|
|
NM_000249.4(MLH1):c.1809del (p.Glu605fs)
|
rs2125985001
|
|
NM_000249.4(MLH1):c.1810A>T (p.Lys604Ter)
|
rs63750386
|
|
NM_000249.4(MLH1):c.1812dup (p.Glu605fs)
|
rs63751240
|
|
NM_000249.4(MLH1):c.1821dup (p.Ala608fs)
|
rs587778947
|
|
NM_000249.4(MLH1):c.1823C>A (p.Ala608Asp)
|
rs267607864
|
|
NM_000249.4(MLH1):c.1823C>T (p.Ala608Val)
|
rs267607864
|
|
NM_000249.4(MLH1):c.1824_1825dup (p.Glu609fs)
|
rs1575621506
|
|
NM_000249.4(MLH1):c.1829_1832dup (p.Val612fs)
|
rs587778948
|
|
NM_000249.4(MLH1):c.1830C>G (p.Tyr610Ter)
|
rs2125985283
|
|
NM_000249.4(MLH1):c.1830_1831del (p.Ile611fs)
|
|
|
NM_000249.4(MLH1):c.1831_1832del (p.Ile611fs)
|
rs63750150
|
|
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del)
|
rs63750486
|
|
NM_000249.4(MLH1):c.1834_1847delinsT (p.Ile611_Val612insTer)
|
rs863225379
|
|
NM_000249.4(MLH1):c.1838A>G (p.Glu613Gly)
|
|
|
NM_000249.4(MLH1):c.1841_1842del (p.Phe614fs)
|
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
NM_000249.4(MLH1):c.1847del (p.Lys616fs)
|
|
|
NM_000249.4(MLH1):c.1848del (p.Lys617fs)
|
|
|
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter)
|
rs63751428
|
|
NM_000249.4(MLH1):c.1852A>T (p.Lys618Ter)
|
rs35001569
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_000249.4(MLH1):c.1853A>G (p.Lys618Arg)
|
rs63750449
|
|
NM_000249.4(MLH1):c.1853A>T (p.Lys618Met)
|
rs63750449
|
|
NM_000249.4(MLH1):c.1853delinsTTCTT (p.Lys618fs)
|
rs587778949
|
|
NM_000249.4(MLH1):c.1854G>A (p.Lys618=)
|
rs786202638
|
|
NM_000249.4(MLH1):c.1855G>C (p.Ala619Pro)
|
rs267607866
|
|
NM_000249.4(MLH1):c.1855_1856dup (p.Glu620fs)
|
|
|
NM_000249.4(MLH1):c.1855del (p.Ala619fs)
|
rs63749986
|
|
NM_000249.4(MLH1):c.1856_1859dup (p.Glu620delinsAspTer)
|
|
|
NM_000249.4(MLH1):c.1858del (p.Glu620fs)
|
rs786203456
|
|
NM_000249.4(MLH1):c.185A>G (p.Gln62Arg)
|
rs2081171469
|
|
NM_000249.4(MLH1):c.1860dup (p.Met621fs)
|
rs863225380
|
|
NM_000249.4(MLH1):c.1864del (p.Ala623fs)
|
rs1559588540
|
|
NM_000249.4(MLH1):c.1865T>A (p.Leu622His)
|
rs63750693
|
|
NM_000249.4(MLH1):c.1865T>C (p.Leu622Pro)
|
rs63750693
|
|
NM_000249.4(MLH1):c.1865_1866insAT (p.Ala623fs)
|
|
|
NM_000249.4(MLH1):c.1866del (p.Ala623fs)
|
rs587778950
|
|
NM_000249.4(MLH1):c.1867dup (p.Ala623fs)
|
|
|
NM_000249.4(MLH1):c.186A>G (p.Gln62=)
|
rs1559506261
|
|
NM_000249.4(MLH1):c.1871dup (p.Asp624fs)
|
|
|
NM_000249.4(MLH1):c.1873dup (p.Tyr625fs)
|
|
|
NM_000249.4(MLH1):c.1874A>G (p.Tyr625Cys)
|
rs748851107
|
|
NM_000249.4(MLH1):c.1874_1896+11delinsTATTCTTGCTTGCAGAAGTATTGCAGAAGT
|
|
|
NM_000249.4(MLH1):c.1875T>G (p.Tyr625Ter)
|
rs63751415
|
|
NM_000249.4(MLH1):c.1877_1883del (p.Phe626fs)
|
rs63751594
|
|
NM_000249.4(MLH1):c.1877del (p.Phe626fs)
|
rs63750152
|
|
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn)
|
rs63750850
|
|
NM_000249.4(MLH1):c.1880_1883del (p.Ser627fs)
|
rs587778953
|
|
NM_000249.4(MLH1):c.1882_1883del (p.Leu628fs)
|
|
|
NM_000249.4(MLH1):c.1883T>A (p.Leu628Ter)
|
rs1553663159
|
|
NM_000249.4(MLH1):c.1884_1888del (p.Leu628fs)
|
rs63751639
|
|
NM_000249.4(MLH1):c.1885del (p.Glu629fs)
|
|
|
NM_000249.4(MLH1):c.1889T>A (p.Ile630Asn)
|
rs1559588836
|
|
NM_000249.4(MLH1):c.1890dup (p.Asp631Ter)
|
rs786201990
|
|
NM_000249.4(MLH1):c.1893del (p.Asp631fs)
|
rs587778954
|
|
NM_000249.4(MLH1):c.1894G>A (p.Glu632Lys)
|
|
|
NM_000249.4(MLH1):c.1896+1G>A
|
rs267607867
|
|
NM_000249.4(MLH1):c.1896+1G>C
|
rs267607867
|
|
NM_000249.4(MLH1):c.1896+1G>T
|
rs267607867
|
|
NM_000249.4(MLH1):c.1896+1del
|
rs267607868
|
|
NM_000249.4(MLH1):c.1896+2T>C
|
rs267607869
|
|
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)
|
rs63751632
|
|
NM_000249.4(MLH1):c.1896G>C (p.Glu632Asp)
|
|
|
NM_000249.4(MLH1):c.1896G>T (p.Glu632Asp)
|
|
|
NM_000249.4(MLH1):c.1897-28_1900delinsTCAGAAAAT
|
|
|
NM_000249.4(MLH1):c.1897-2A>G
|
rs267607871
|
|
NM_000249.4(MLH1):c.189C>A (p.Asp63Glu)
|
rs587778955
|
|
NM_000249.4(MLH1):c.18G>A (p.Gly6=)
|
rs786202312
|
|
NM_000249.4(MLH1):c.18_34del (p.Val7fs)
|
rs63751892
|
|
NM_000249.4(MLH1):c.1902del (p.Asn635fs)
|
rs587778956
|
|
NM_000249.4(MLH1):c.1904dup (p.Asn635fs)
|
rs587778957
|
|
NM_000249.4(MLH1):c.1907T>C (p.Leu636Pro)
|
rs63750825
|
|
NM_000249.4(MLH1):c.1907_1920del (p.Leu636fs)
|
rs1553663750
|
|
NM_000249.4(MLH1):c.190_191del (p.Asn64fs)
|
rs63750469
|
|
NM_000249.4(MLH1):c.1910T>C (p.Ile637Thr)
|
rs1575627499
|
|
NM_000249.4(MLH1):c.1912G>T (p.Gly638Ter)
|
rs63750549
|
|
NM_000249.4(MLH1):c.1913_1926dup (p.Ile643delinsAspTyrProPheTer)
|
rs587778958
|
|
NM_000249.4(MLH1):c.1914_1942dup (p.Pro648delinsHisTyrProPheTer)
|
rs587778959
|
|
NM_000249.4(MLH1):c.1916dup (p.Leu639fs)
|
rs587778960
|
|
NM_000249.4(MLH1):c.1917_1924del (p.Leu639fs)
|
|
|
NM_000249.4(MLH1):c.1918C>A (p.Pro640Thr)
|
rs63749792
|
|
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)
|
rs63749792
|
|
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu)
|
rs267607875
|
|
NM_000249.4(MLH1):c.191dup (p.Asn64fs)
|
rs63751255
|
|
NM_000249.4(MLH1):c.1920_1921insT (p.Leu641fs)
|
rs587778961
|
|
NM_000249.4(MLH1):c.1921del (p.Leu641fs)
|
|
|
NM_000249.4(MLH1):c.1921dup (p.Leu641fs)
|
rs2125990255
|
|
NM_000249.4(MLH1):c.1923del (p.Leu641_Leu642insTer)
|
rs1553663834
|
|
NM_000249.4(MLH1):c.1925T>A (p.Leu642Gln)
|
rs1559590916
|
|
NM_000249.4(MLH1):c.1926dup (p.Ile643fs)
|
rs2085415475
|
|
NM_000249.4(MLH1):c.1928T>C (p.Ile643Thr)
|
rs1553663856
|
|
NM_000249.4(MLH1):c.1928_1931dup (p.Asp644_Asn645insTer)
|
|
|
NM_000249.4(MLH1):c.1929del (p.Ile643fs)
|
rs2085415927
|
|
NM_000249.4(MLH1):c.192dup (p.Gly65fs)
|
|
|
NM_000249.4(MLH1):c.1930del (p.Asp644fs)
|
rs587778962
|
|
NM_000249.4(MLH1):c.1938T>A (p.Tyr646Ter)
|
|
|
NM_000249.4(MLH1):c.1938_1945dup (p.Pro649fs)
|
rs1064794331
|
|
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)
|
|
|
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)
|
rs63750899
|
|
NM_000249.4(MLH1):c.1943C>T (p.Pro648Leu)
|
rs63750610
|
|
NM_000249.4(MLH1):c.1945_1946dup (p.Glu651fs)
|
|
|
NM_000249.4(MLH1):c.1946del (p.Pro649fs)
|
rs281864938
|
|
NM_000249.4(MLH1):c.1946dup (p.Leu650fs)
|
|
|
NM_000249.4(MLH1):c.194G>A (p.Gly65Asp)
|
rs63751465
|
|
NM_000249.4(MLH1):c.1951G>T (p.Glu651Ter)
|
|
|
NM_000249.4(MLH1):c.1953_1956del (p.Glu651fs)
|
rs63751301
|
|
NM_000249.4(MLH1):c.1955del (p.Gly652fs)
|
|
|
NM_000249.4(MLH1):c.1957del (p.Leu653fs)
|
|
|
NM_000249.4(MLH1):c.1958T>G (p.Leu653Arg)
|
rs63751202
|
|
NM_000249.4(MLH1):c.195del (p.Thr66fs)
|
rs267607715
|
|
NM_000249.4(MLH1):c.195delinsATCTT (p.Thr66fs)
|
rs1553638868
|
|
NM_000249.4(MLH1):c.1960C>T (p.Pro654Ser)
|
rs1559591314
|
|
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu)
|
rs63750726
|
|
NM_000249.4(MLH1):c.1966T>G (p.Phe656Val)
|
|
|
NM_000249.4(MLH1):c.1969dup (p.Ile657fs)
|
rs2085425585
|
|
NM_000249.4(MLH1):c.1971del (p.Leu658fs)
|
rs63750115
|
|
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter)
|
rs63751310
|
|
NM_000249.4(MLH1):c.1975_1976del (p.Arg659fs)
|
rs63750131
|
|
NM_000249.4(MLH1):c.1976G>C (p.Arg659Pro)
|
rs63749900
|
|
NM_000249.4(MLH1):c.1976G>T (p.Arg659Leu)
|
rs63749900
|
|
NM_000249.4(MLH1):c.1976_1977del (p.Arg659fs)
|
rs63751200
|
|
NM_000249.4(MLH1):c.1978del (p.Arg659_Leu660insTer)
|
|
|
NM_000249.4(MLH1):c.1979T>C (p.Leu660Pro)
|
rs1559591546
|
|
NM_000249.4(MLH1):c.197_207+20del
|
|
|
NM_000249.4(MLH1):c.1983dup (p.Thr662fs)
|
rs2125991131
|
|
NM_000249.4(MLH1):c.1984A>C (p.Thr662Pro)
|
rs587778964
|
|
NM_000249.4(MLH1):c.1986_1989+1delinsC
|
rs267607873
|
|
NM_000249.4(MLH1):c.1988A>C (p.Glu663Ala)
|
rs63751682
|
|
NM_000249.4(MLH1):c.1988del (p.Glu663fs)
|
rs267607877
|
|
NM_000249.4(MLH1):c.1989+1G>A
|
rs267607879
|
|
NM_000249.4(MLH1):c.1989+1G>C
|
rs267607879
|
|
NM_000249.4(MLH1):c.1989+1G>T
|
rs267607879
|
|
NM_000249.4(MLH1):c.1989+1del
|
|
|
NM_000249.4(MLH1):c.1989+2T>C
|
rs1553664119
|
|
NM_000249.4(MLH1):c.1989+5G>C
|
rs267607878
|
|
NM_000249.4(MLH1):c.1989+5G>T
|
rs267607878
|
|
NM_000249.4(MLH1):c.1989G>A (p.Glu663=)
|
rs63751662
|
|
NM_000249.4(MLH1):c.1989G>T (p.Glu663Asp)
|
rs63751662
|
|
NM_000249.4(MLH1):c.198dup (p.Gly67fs)
|
rs587778966
|
|
NM_000249.4(MLH1):c.1990-16_1990-2del
|
rs267607881
|
|
NM_000249.4(MLH1):c.1990-17G>C
|
rs1057521535
|
|
NM_000249.4(MLH1):c.1990-1G>A
|
rs267607884
|
|
NM_000249.4(MLH1):c.1990-1G>C
|
rs267607884
|
|
NM_000249.4(MLH1):c.1990-1G>T
|
rs267607884
|
|
NM_000249.4(MLH1):c.1990-2A>G
|
rs267607883
|
|
NM_000249.4(MLH1):c.1990-3_2001del
|
rs2085459433
|
|
NM_000249.4(MLH1):c.1996T>C (p.Trp666Arg)
|
rs267607887
|
|
NM_000249.4(MLH1):c.1997G>A (p.Trp666Ter)
|
rs886039424
|
|
NM_000249.4(MLH1):c.1997G>C (p.Trp666Ser)
|
rs886039424
|
|
NM_000249.4(MLH1):c.1998G>A (p.Trp666Ter)
|
rs63750639
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.199G>C (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp)
|
rs63750206
|
|
NM_000249.4(MLH1):c.19_35del (p.Val7fs)
|
rs267607702
|
|
NM_000249.4(MLH1):c.19del (p.Val7fs)
|
rs2080886738
|
|
NM_000249.4(MLH1):c.1A>G (p.Met1Val)
|
rs587778967
|
|
NM_000249.4(MLH1):c.2000dup (p.Asp667fs)
|
rs63750282
|
|
NM_000249.4(MLH1):c.2006_2010del (p.Glu669fs)
|
rs63750061
|
|
NM_000249.4(MLH1):c.2009del (p.Lys670fs)
|
rs63750740
|
|
NM_000249.4(MLH1):c.200G>A (p.Gly67Glu)
|
rs63749939
|
|
NM_000249.4(MLH1):c.200G>T (p.Gly67Val)
|
rs63749939
|
|
NM_000249.4(MLH1):c.2011G>T (p.Glu671Ter)
|
rs63750663
|
|
NM_000249.4(MLH1):c.2013_2014del (p.Cys672fs)
|
|
|
NM_000249.4(MLH1):c.2014T>A (p.Cys672Ser)
|
rs2085466553
|
|
NM_000249.4(MLH1):c.201del (p.Ile68fs)
|
rs587778968
|
|
NM_000249.4(MLH1):c.201dup (p.Ile68fs)
|
rs587778968
|
|
NM_000249.4(MLH1):c.2020G>T (p.Glu674Ter)
|
|
|
NM_000249.4(MLH1):c.2024G>A (p.Ser675Asn)
|
rs781637991
|
|
NM_000249.4(MLH1):c.2024G>C (p.Ser675Thr)
|
rs781637991
|
|
NM_000249.4(MLH1):c.2027T>C (p.Leu676Pro)
|
rs63750242
|
|
NM_000249.4(MLH1):c.2029A>T (p.Ser677Cys)
|
rs587780681
|
|
NM_000249.4(MLH1):c.202_207+1del
|
|
|
NM_000249.4(MLH1):c.2030dup (p.Ser677fs)
|
rs2085469647
|
|
NM_000249.4(MLH1):c.2032A>T (p.Lys678Ter)
|
rs1553664436
|
|
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)
|
rs587778971
|
|
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)
|
rs63750809
|
|
NM_000249.4(MLH1):c.203T>A (p.Ile68Asn)
|
rs63750281
|
|
NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter)
|
rs63749867
|
|
NM_000249.4(MLH1):c.2040C>T (p.Cys680=)
|
rs63749867
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.2041del (p.Ala681fs)
|
rs2085472296
|
|
NM_000249.4(MLH1):c.2042C>T (p.Ala681Val)
|
rs63750864
|
|
NM_000249.4(MLH1):c.2044_2045del (p.Met682fs)
|
rs878853785
|
|
NM_000249.4(MLH1):c.2048T>C (p.Phe683Ser)
|
rs587778972
|
|
NM_000249.4(MLH1):c.2048_2050del (p.Phe683del)
|
rs1553664506
|
|
NM_000249.4(MLH1):c.2049C>A (p.Phe683Leu)
|
rs1449199195
|
|
NM_000249.4(MLH1):c.204C>G (p.Ile68Met)
|
rs780141938
|
|
NM_000249.4(MLH1):c.2051A>G (p.Tyr684Cys)
|
rs267607886
|
|
NM_000249.4(MLH1):c.2052T>A (p.Tyr684Ter)
|
|
|
NM_000249.4(MLH1):c.2054C>A (p.Ser685Tyr)
|
rs1064796101
|
|
NM_000249.4(MLH1):c.2059del (p.Arg687fs)
|
rs863225381
|
|
NM_000249.4(MLH1):c.205del (p.Arg69fs)
|
rs63751704
|
|
NM_000249.4(MLH1):c.2065C>A (p.Gln689Lys)
|
rs41542214
|
|
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter)
|
rs41542214
|
|
NM_000249.4(MLH1):c.2067_2073del (p.Gln689fs)
|
rs63750420
|
|
NM_000249.4(MLH1):c.2069dup (p.Tyr690Ter)
|
|
|
NM_000249.4(MLH1):c.207+1G>T
|
rs267607718
|
|
NM_000249.4(MLH1):c.207+1_207+2del
|
rs267607719
|
|
NM_000249.4(MLH1):c.207+2T>C
|
rs267607722
|
|
NM_000249.4(MLH1):c.207+2T>G
|
rs267607722
|
|
NM_000249.4(MLH1):c.207+5G>C
|
rs587781518
|
|
NM_000249.4(MLH1):c.2070C>A (p.Tyr690Ter)
|
rs550890395
|
|
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter)
|
rs550890395
|
|
NM_000249.4(MLH1):c.2070_2071insTT (p.Ile691fs)
|
rs876659681
|
|
NM_000249.4(MLH1):c.2071_2072insG (p.Ile691fs)
|
rs1575632112
|
|
NM_000249.4(MLH1):c.2072dup (p.Ser692fs)
|
|
|
NM_000249.4(MLH1):c.2074T>C (p.Ser692Pro)
|
rs587779957
|
|
NM_000249.4(MLH1):c.2076_2077del (p.Glu693fs)
|
rs63750769
|
|
NM_000249.4(MLH1):c.2078_2172del (p.Glu693fs)
|
|
|
NM_000249.4(MLH1):c.208-1714_306+641delinsACATAGTA
|
|
|
NM_000249.4(MLH1):c.208-1G>A
|
rs267607717
|
|
NM_000249.4(MLH1):c.208-1G>C
|
|
|
NM_000249.4(MLH1):c.208-1_208del
|
rs587778973
|
|
NM_000249.4(MLH1):c.208-2A>C
|
rs267607716
|
|
NM_000249.4(MLH1):c.208-2A>G
|
rs267607716
|
|
NM_000249.4(MLH1):c.208-3C>G
|
rs267607720
|
|
NM_000249.4(MLH1):c.2080_2081inv (p.Glu694Ser)
|
|
|
NM_000249.4(MLH1):c.2080dup (p.Glu694fs)
|
rs1553664617
|
|
NM_000249.4(MLH1):c.2082dup (p.Ser695fs)
|
|
|
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter)
|
rs63749995
|
|
NM_000249.4(MLH1):c.2084C>G (p.Ser695Trp)
|
rs63749995
|
|
NM_000249.4(MLH1):c.2087C>A (p.Thr696Asn)
|
rs868502951
|
|
NM_000249.4(MLH1):c.2087C>T (p.Thr696Ile)
|
rs868502951
|
|
NM_000249.4(MLH1):c.2088C>G (p.Thr696=)
|
rs1060504015
|
|
NM_000249.4(MLH1):c.2089_2090insGG (p.Leu697fs)
|
|
|
NM_000249.4(MLH1):c.2091_2093delinsT (p.Ser698fs)
|
|
|
NM_000249.4(MLH1):c.2092_2093del (p.Ser698fs)
|
rs63750859
|
|
NM_000249.4(MLH1):c.2093C>G (p.Ser698Ter)
|
rs587778975
|
|
NM_000249.4(MLH1):c.2098C>T (p.Gln700Ter)
|
rs1553664702
|
|
NM_000249.4(MLH1):c.2099_2102del (p.Gln700fs)
|
rs63751652
|
|
NM_000249.4(MLH1):c.2100_2103+13delinsCTG
|
|
|
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)
|
rs63750114
|
|
NM_000249.4(MLH1):c.2102dup (p.Ser702fs)
|
|
|
NM_000249.4(MLH1):c.2103+1G>A
|
rs267607888
|
|
NM_000249.4(MLH1):c.2103+1G>C
|
rs267607888
|
|
NM_000249.4(MLH1):c.2103+1G>T
|
rs267607888
|
|
NM_000249.4(MLH1):c.2103+3A>G
|
rs587778976
|
|
NM_000249.4(MLH1):c.2103G>A (p.Gln701=)
|
rs63750603
|
|
NM_000249.4(MLH1):c.2103G>C (p.Gln701His)
|
rs63750603
|
|
NM_000249.4(MLH1):c.2104-1G>A
|
rs587778978
|
|
NM_000249.4(MLH1):c.2104-1G>C
|
|
|
NM_000249.4(MLH1):c.2104-1G>T
|
rs587778978
|
|
NM_000249.4(MLH1):c.2104-22T>C
|
rs267607890
|
|
NM_000249.4(MLH1):c.2104-2A>C
|
|
|
NM_000249.4(MLH1):c.2104-2A>G
|
rs267607889
|
|
NM_000249.4(MLH1):c.2104-2A>T
|
rs267607889
|
|
NM_000249.4(MLH1):c.2105_2114del (p.Ser702fs)
|
rs587778979
|
|
NM_000249.4(MLH1):c.2105dup (p.Ser702fs)
|
|
|
NM_000249.4(MLH1):c.2109_2112dup (p.Pro705fs)
|
|
|
NM_000249.4(MLH1):c.210AGA[1] (p.Glu71del)
|
rs63751642
|
|
NM_000249.4(MLH1):c.210_213del
|
rs267607723
|
|
NM_000249.4(MLH1):c.2110G>A (p.Val704Met)
|
rs587781811
|
|
NM_000249.4(MLH1):c.2111_2117del (p.Val704fs)
|
rs587778980
|
|
NM_000249.4(MLH1):c.211G>T (p.Glu71Ter)
|
rs63749829
|
|
NM_000249.4(MLH1):c.2128A>G (p.Asn710Asp)
|
rs1559595840
|
|
NM_000249.4(MLH1):c.2128_2131dup (p.Ser711Ter)
|
|
|
NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter)
|
rs63750561
|
|
NM_000249.4(MLH1):c.2136G>A (p.Trp712Ter)
|
rs63750499
|
|
NM_000249.4(MLH1):c.2136del (p.Ser711_Trp712insTer)
|
rs1060500706
|
|
NM_000249.4(MLH1):c.2138_2151del (p.Lys713fs)
|
rs2148522723
|
|
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)
|
rs63751022
|
|
NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter)
|
rs63750978
|
|
NM_000249.4(MLH1):c.2147_2148del (p.Val716fs)
|
rs587778981
|
|
NM_000249.4(MLH1):c.2148_2149del (p.Glu717fs)
|
rs1575639851
|
|
NM_000249.4(MLH1):c.2148_2163del (p.Glu717fs)
|
|
|
NM_000249.4(MLH1):c.2149G>T (p.Glu717Ter)
|
|
|
NM_000249.4(MLH1):c.2149_2195dup (p.His733fs)
|
rs587778982
|
|
NM_000249.4(MLH1):c.214G>A (p.Asp72Asn)
|
rs1553640187
|
|
NM_000249.4(MLH1):c.2153A>C (p.His718Pro)
|
rs587778983
|
|
NM_000249.4(MLH1):c.2154_2155del (p.Ile719fs)
|
rs63750971
|
|
NM_000249.4(MLH1):c.2154_2155dup (p.Ile719fs)
|
rs63750971
|
|
NM_000249.4(MLH1):c.2155A>G (p.Ile719Val)
|
rs754225520
|
|
NM_000249.4(MLH1):c.2156_2157del (p.Ile719fs)
|
|
|
NM_000249.4(MLH1):c.2157dup (p.Val720fs)
|
rs587778984
|
|
NM_000249.4(MLH1):c.2159T>G (p.Val720Gly)
|
rs587778985
|
|
NM_000249.4(MLH1):c.2161_2191dup (p.Pro731delinsLeuTer)
|
rs1553665683
|
|
NM_000249.4(MLH1):c.2162A>C (p.Tyr721Ser)
|
rs587778986
|
|
NM_000249.4(MLH1):c.2162del (p.Tyr721fs)
|
rs786202767
|
|
NM_000249.4(MLH1):c.2163T>A (p.Tyr721Ter)
|
rs63750484
|
|
NM_000249.4(MLH1):c.2163del (p.Val720_Tyr721insTer)
|
rs2148523658
|
|
NM_000249.4(MLH1):c.2173C>G (p.Arg725Gly)
|
rs138584384
|
|
NM_000249.4(MLH1):c.2174_2177dup (p.His727fs)
|
|
|
NM_000249.4(MLH1):c.2177C>A (p.Ser726Ter)
|
|
|
NM_000249.4(MLH1):c.2177C>G (p.Ser726Ter)
|
rs864622457
|
|
NM_000249.4(MLH1):c.2179_2182del (p.His727fs)
|
rs267607898
|
|
NM_000249.4(MLH1):c.2179delinsAG (p.His727fs)
|
|
|
NM_000249.4(MLH1):c.2181_2182del (p.Ile728fs)
|
rs267607898
|
|
NM_000249.4(MLH1):c.2186dup (p.Pro730fs)
|
|
|
NM_000249.4(MLH1):c.2187_2190dup (p.Pro731fs)
|
|
|
NM_000249.4(MLH1):c.218T>C (p.Leu73Pro)
|
rs397514684
|
|
NM_000249.4(MLH1):c.218T>G (p.Leu73Arg)
|
rs397514684
|
|
NM_000249.4(MLH1):c.2190del (p.Pro731fs)
|
rs587780683
|
|
NM_000249.4(MLH1):c.2191C>T (p.Pro731Ser)
|
rs876661188
|
|
NM_000249.4(MLH1):c.2192C>A (p.Pro731His)
|
rs2148524373
|
|
NM_000249.4(MLH1):c.2194A>C (p.Lys732Gln)
|
rs267607906
|
|
NM_000249.4(MLH1):c.2194A>T (p.Lys732Ter)
|
rs267607906
|
|
NM_000249.4(MLH1):c.2195_2196del (p.Lys732fs)
|
rs2148524462
|
|
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs)
|
rs267607903
|
|
NM_000249.4(MLH1):c.2196dup (p.His733fs)
|
|
|
NM_000249.4(MLH1):c.2197C>T (p.His733Tyr)
|
rs1553665846
|
|
NM_000249.4(MLH1):c.2198A>G (p.His733Arg)
|
rs770579083
|
|
NM_000249.4(MLH1):c.2204C>T (p.Thr735Ile)
|
rs1462634271
|
|
NM_000249.4(MLH1):c.2206G>T (p.Glu736Ter)
|
rs876659608
|
|
NM_000249.4(MLH1):c.2212G>T (p.Gly738Ter)
|
rs1553665866
|
|
NM_000249.4(MLH1):c.2218dup (p.Ile740fs)
|
rs587778989
|
|
NM_000249.4(MLH1):c.2223_2233del (p.Gln742fs)
|
rs267607897
|
|
NM_000249.4(MLH1):c.2224C>T (p.Gln742Ter)
|
rs587778992
|
|
NM_000249.4(MLH1):c.2224del (p.Gln742fs)
|
rs267607896
|
|
NM_000249.4(MLH1):c.2227C>T (p.Leu743Phe)
|
rs1575641138
|
|
NM_000249.4(MLH1):c.2236_2237insG (p.Leu746fs)
|
|
|
NM_000249.4(MLH1):c.2236_2247del (p.Leu746_Leu749del)
|
rs1575641243
|
|
NM_000249.4(MLH1):c.2236dup (p.Leu746fs)
|
rs1553665977
|
|
NM_000249.4(MLH1):c.2239C>T (p.Pro747Ser)
|
rs587779958
|
|
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro)
|
rs267607894
|
|
NM_000249.4(MLH1):c.2250C>A (p.Tyr750Ter)
|
rs267607893
|
|
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter)
|
rs267607893
|
|
NM_000249.4(MLH1):c.2250_2251del (p.Tyr750_Lys751delinsTer)
|
|
|
NM_000249.4(MLH1):c.2251A>T (p.Lys751Ter)
|
rs786204318
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2252_2253dup (p.Val752fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2259dup (p.Glu754Ter)
|
|
|
NM_000249.4(MLH1):c.2262del (p.Arg755fs)
|
rs267607904
|
|
NM_000249.4(MLH1):c.2263A>G (p.Arg755Gly)
|
rs267607900
|
|
NM_000249.4(MLH1):c.2265G>C (p.Arg755Ser)
|
rs267607895
|
|
NM_000249.4(MLH1):c.2266_2269dup (p.Ter757LeuextTer?)
|
rs267607892
|
|
NM_000249.4(MLH1):c.2269T>A (p.Ter757Lys)
|
rs587778995
|
|
NM_000249.4(MLH1):c.2269dup (p.Ter757LeuextTer?)
|
rs1553666143
|
|
NM_000249.4(MLH1):c.227T>A (p.Val76Glu)
|
rs1434599441
|
|
NM_000249.4(MLH1):c.227dup (p.Cys77fs)
|
rs2125735738
|
|
NM_000249.4(MLH1):c.229T>C (p.Cys77Arg)
|
rs63749859
|
|
NM_000249.4(MLH1):c.229T>G (p.Cys77Gly)
|
rs63749859
|
|
NM_000249.4(MLH1):c.22del (p.Ile8fs)
|
rs2125693612
|
|
NM_000249.4(MLH1):c.22dup (p.Ile8fs)
|
rs587778996
|
|
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)
|
rs63750437
|
|
NM_000249.4(MLH1):c.231_232del (p.Cys77_Glu78delinsTer)
|
rs63750052
|
|
NM_000249.4(MLH1):c.232G>T (p.Glu78Ter)
|
|
|
NM_000249.4(MLH1):c.232del (p.Glu78fs)
|
rs587778997
|
|
NM_000249.4(MLH1):c.238T>G (p.Phe80Val)
|
rs63749990
|
|
NM_000249.4(MLH1):c.239del (p.Phe80fs)
|
|
|
NM_000249.4(MLH1):c.23_38del (p.Ile8fs)
|
|
|
NM_000249.4(MLH1):c.242C>G (p.Thr81Ser)
|
rs63751069
|
|
NM_000249.4(MLH1):c.244dup (p.Thr82fs)
|
rs267607729
|
|
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile)
|
rs63750005
|
|
NM_000249.4(MLH1):c.250A>G (p.Lys84Glu)
|
rs63750641
|
|
NM_000249.4(MLH1):c.251_255del (p.Lys84fs)
|
|
|
NM_000249.4(MLH1):c.252del (p.Lys84fs)
|
rs876660822
|
|
NM_000249.4(MLH1):c.253C>T (p.Leu85=)
|
rs63750659
|
|
NM_000249.4(MLH1):c.256C>T (p.Gln86Ter)
|
rs63751421
|
|
NM_000249.4(MLH1):c.25C>G (p.Arg9Gly)
|
rs587779000
|
|
NM_000249.4(MLH1):c.25C>T (p.Arg9Trp)
|
rs587779000
|
|
NM_000249.4(MLH1):c.25_26delinsTA (p.Arg9Ter)
|
rs869312767
|
|
NM_000249.4(MLH1):c.261del (p.Phe88fs)
|
rs267607728
|
|
NM_000249.4(MLH1):c.264dup (p.Glu89Ter)
|
|
|
NM_000249.4(MLH1):c.265G>T (p.Glu89Ter)
|
rs11541859
|
|
NM_000249.4(MLH1):c.275_278del (p.Ala92fs)
|
|
|
NM_000249.4(MLH1):c.279dup (p.Ile94fs)
|
|
|
NM_000249.4(MLH1):c.27G>A (p.Arg9=)
|
rs759680369
|
|
NM_000249.4(MLH1):c.283del (p.Ser95fs)
|
rs1064795441
|
|
NM_000249.4(MLH1):c.286delinsGC (p.Thr96fs)
|
|
|
NM_000249.4(MLH1):c.28C>T (p.Arg10Trp)
|
rs1193754562
|
|
NM_000249.4(MLH1):c.290A>G (p.Tyr97Cys)
|
rs773647920
|
|
NM_000249.4(MLH1):c.290dup (p.Tyr97Ter)
|
rs1575414904
|
|
NM_000249.4(MLH1):c.292G>A (p.Gly98Ser)
|
rs267607725
|
|
NM_000249.4(MLH1):c.292G>C (p.Gly98Arg)
|
rs267607725
|
|
NM_000249.4(MLH1):c.293_304del (p.Gly98_Gly101del)
|
rs63751691
|
|
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro)
|
rs63750266
|
|
NM_000249.4(MLH1):c.2T>A (p.Met1Lys)
|
rs111052004
|
|
NM_000249.4(MLH1):c.2T>C (p.Met1Thr)
|
rs111052004
|
|
NM_000249.4(MLH1):c.2T>G (p.Met1Arg)
|
rs111052004
|
|
NM_000249.4(MLH1):c.301G>A (p.Gly101Ser)
|
rs267607726
|
|
NM_000249.4(MLH1):c.302G>A (p.Gly101Asp)
|
rs267607727
|
|
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)
|
rs63750453
|
|
NM_000249.4(MLH1):c.304G>T (p.Glu102Ter)
|
|
|
NM_000249.4(MLH1):c.306+1G>A
|
rs267607734
|
|
NM_000249.4(MLH1):c.306+1G>C
|
|
|
NM_000249.4(MLH1):c.306+2T>C
|
|
|
NM_000249.4(MLH1):c.306+2dup
|
rs267607738
|
|
NM_000249.4(MLH1):c.306+5G>A
|
rs267607735
|
|
NM_000249.4(MLH1):c.306+6C>T
|
rs746641892
|
|
NM_000249.4(MLH1):c.306G>C (p.Glu102Asp)
|
rs63751665
|
|
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)
|
rs63751665
|
|
NM_000249.4(MLH1):c.307-10T>C
|
rs572853043
|
|
NM_000249.4(MLH1):c.307-1420_380+624del
|
|
|
NM_000249.4(MLH1):c.307-1G>A
|
|
|
NM_000249.4(MLH1):c.307-1G>C
|
rs267607736
|
|
NM_000249.4(MLH1):c.307-244_454-364del
|
|
|
NM_000249.4(MLH1):c.307-2A>C
|
rs267607732
|
|
NM_000249.4(MLH1):c.307-2A>G
|
rs267607732
|
|
NM_000249.4(MLH1):c.307-797_677+1061del
|
|
|
NM_000249.4(MLH1):c.307-820_380+896del
|
|
|
NM_000249.4(MLH1):c.313dup (p.Ala105fs)
|
|
|
NM_000249.4(MLH1):c.319A>G (p.Ile107Val)
|
rs572906317
|
|
NM_000249.4(MLH1):c.31del (p.Leu11fs)
|
rs63749816
|
|
NM_000249.4(MLH1):c.320T>G (p.Ile107Arg)
|
rs63750507
|
|
NM_000249.4(MLH1):c.325del (p.His109fs)
|
rs1553641273
|
|
NM_000249.4(MLH1):c.332C>T (p.Ala111Val)
|
rs63750539
|
|
NM_000249.4(MLH1):c.333_334del (p.His112fs)
|
|
|
NM_000249.4(MLH1):c.338T>A (p.Val113Asp)
|
rs63750559
|
|
NM_000249.4(MLH1):c.341del (p.Thr114fs)
|
rs63750645
|
|
NM_000249.4(MLH1):c.345_349del (p.Thr116fs)
|
rs2081714489
|
|
NM_000249.4(MLH1):c.346del (p.Thr116fs)
|
rs63750906
|
|
NM_000249.4(MLH1):c.346dup (p.Thr116fs)
|
rs267607739
|
|
NM_000249.4(MLH1):c.347del (p.Thr116fs)
|
rs876661159
|
|
NM_000249.4(MLH1):c.34_46del (p.Leu11_Asp12insTer)
|
rs2080891193
|
|
NM_000249.4(MLH1):c.350C>G (p.Thr117Arg)
|
rs63750781
|
|
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)
|
rs63750781
|
|
NM_000249.4(MLH1):c.354_355dup (p.Thr119fs)
|
rs63750658
|
|
NM_000249.4(MLH1):c.355A>G (p.Thr119Ala)
|
rs977932120
|
|
NM_000249.4(MLH1):c.358_361dup (p.Asp121delinsGlyTer)
|
|
|
NM_000249.4(MLH1):c.35del (p.Asp12fs)
|
rs2125693787
|
|
NM_000249.4(MLH1):c.366_369del (p.Lys123fs)
|
|
|
NM_000249.4(MLH1):c.367A>T (p.Lys123Ter)
|
rs63750542
|
|
NM_000249.4(MLH1):c.36C>G (p.Asp12Glu)
|
rs587782181
|
|
NM_000249.4(MLH1):c.372_373del (p.Ala125fs)
|
rs587779006
|
|
NM_000249.4(MLH1):c.372_380+8del
|
|
|
NM_000249.4(MLH1):c.373G>A (p.Ala125Thr)
|
|
|
NM_000249.4(MLH1):c.374C>A (p.Ala125Glu)
|
rs1553641362
|
|
NM_000249.4(MLH1):c.378C>A (p.Tyr126Ter)
|
|
|
NM_000249.4(MLH1):c.378C>G (p.Tyr126Ter)
|
rs63751606
|
|
NM_000249.4(MLH1):c.378del (p.Ala125_Tyr126insTer)
|
rs63751607
|
|
NM_000249.4(MLH1):c.37G>A (p.Glu13Lys)
|
rs587779008
|
|
NM_000249.4(MLH1):c.37G>C (p.Glu13Gln)
|
rs587779008
|
|
NM_000249.4(MLH1):c.37G>T (p.Glu13Ter)
|
rs587779008
|
|
NM_000249.4(MLH1):c.37del (p.Glu13fs)
|
rs63750081
|
|
NM_000249.4(MLH1):c.380+1G>A
|
rs267607745
|
|
NM_000249.4(MLH1):c.380+1G>C
|
rs267607745
|
|
NM_000249.4(MLH1):c.380+1G>T
|
rs267607745
|
|
NM_000249.4(MLH1):c.380+1del
|
|
|
NM_000249.4(MLH1):c.380+2T>A
|
rs267607742
|
|
NM_000249.4(MLH1):c.380+2T>C
|
rs267607742
|
|
NM_000249.4(MLH1):c.380G>A (p.Arg127Lys)
|
rs63751595
|
|
NM_000249.4(MLH1):c.380G>T (p.Arg127Ile)
|
rs63751595
|
|
NM_000249.4(MLH1):c.380_380+1insTAT
|
|
|
NM_000249.4(MLH1):c.381-1G>C
|
rs267607744
|
|
NM_000249.4(MLH1):c.381-2A>G
|
rs267607743
|
|
NM_000249.4(MLH1):c.381-415_453+733del
|
|
|
NM_000249.4(MLH1):c.382G>C (p.Ala128Pro)
|
rs63750866
|
|
NM_000249.4(MLH1):c.382_402delinsT (p.Ala128fs)
|
rs267607746
|
|
NM_000249.4(MLH1):c.382del (p.Ala128fs)
|
rs63750865
|
|
NM_000249.4(MLH1):c.383del (p.Ala128fs)
|
rs2125772569
|
|
NM_000249.4(MLH1):c.385_386delinsGTT (p.Ser129fs)
|
rs63751710
|
|
NM_000249.4(MLH1):c.386del (p.Ser129fs)
|
|
|
NM_000249.4(MLH1):c.388T>C (p.Tyr130His)
|
rs587779010
|
|
NM_000249.4(MLH1):c.388del (p.Tyr130fs)
|
rs587779009
|
|
NM_000249.4(MLH1):c.389del (p.Tyr130fs)
|
rs587779012
|
|
NM_000249.4(MLH1):c.38_39insCCCA (p.Glu13fs)
|
rs63750057
|
|
NM_000249.4(MLH1):c.38dup (p.Thr14fs)
|
rs63750057
|
|
NM_000249.4(MLH1):c.390C>G (p.Tyr130Ter)
|
rs1060500689
|
|
NM_000249.4(MLH1):c.392C>A (p.Ser131Ter)
|
rs63749818
|
|
NM_000249.4(MLH1):c.392C>G (p.Ser131Ter)
|
rs63749818
|
|
NM_000249.4(MLH1):c.393_396del (p.Asp132fs)
|
rs1559521039
|
|
NM_000249.4(MLH1):c.393del (p.Asp132fs)
|
rs2081922847
|
|
NM_000249.4(MLH1):c.397G>T (p.Gly133Ter)
|
rs63751124
|
|
NM_000249.4(MLH1):c.39_40dup (p.Thr14fs)
|
rs587779013
|
|
NM_000249.4(MLH1):c.3G>A (p.Met1Ile)
|
rs72481822
|
|
NM_000249.4(MLH1):c.3G>T (p.Met1Ile)
|
rs72481822
|
|
NM_000249.4(MLH1):c.402dup (p.Leu135fs)
|
|
|
NM_000249.4(MLH1):c.404_407del (p.Leu135fs)
|
rs587779014
|
|
NM_000249.4(MLH1):c.404dup (p.Lys136fs)
|
rs1553642079
|
|
NM_000249.4(MLH1):c.406A>T (p.Lys136Ter)
|
rs1575440595
|
|
NM_000249.4(MLH1):c.410C>G (p.Ala137Gly)
|
|
|
NM_000249.4(MLH1):c.412_413dup (p.Pro139fs)
|
|
|
NM_000249.4(MLH1):c.415C>G (p.Pro139Ala)
|
rs779562531
|
|
NM_000249.4(MLH1):c.416del (p.Pro139fs)
|
|
|
NM_000249.4(MLH1):c.418A>T (p.Lys140Ter)
|
|
|
NM_000249.4(MLH1):c.420del (p.Lys140fs)
|
rs587779015
|
|
NM_000249.4(MLH1):c.424T>C (p.Cys142Arg)
|
rs780232692
|
|
NM_000249.4(MLH1):c.428del (p.Ala143fs)
|
|
|
NM_000249.4(MLH1):c.428dup (p.Gly144fs)
|
rs63751045
|
|
NM_000249.4(MLH1):c.434A>G (p.Asn145Ser)
|
rs1553642117
|
|
NM_000249.4(MLH1):c.436C>T (p.Gln146Ter)
|
rs63749820
|
|
NM_000249.4(MLH1):c.439G>C (p.Gly147Arg)
|
rs267607747
|
|
NM_000249.4(MLH1):c.43del (p.Val15fs)
|
|
|
NM_000249.4(MLH1):c.440G>A (p.Gly147Glu)
|
rs1060500702
|
|
NM_000249.4(MLH1):c.445C>T (p.Gln149Ter)
|
rs63751302
|
|
NM_000249.4(MLH1):c.44dup (p.Val16fs)
|
rs63751131
|
|
NM_000249.4(MLH1):c.453+1G>A
|
rs267607750
|
|
NM_000249.4(MLH1):c.453+1G>C
|
rs267607750
|
|
NM_000249.4(MLH1):c.453+1G>T
|
rs267607750
|
|
NM_000249.4(MLH1):c.453+2T>A
|
|
|
NM_000249.4(MLH1):c.453+2T>C
|
rs267607751
|
|
NM_000249.4(MLH1):c.453+2T>G
|
rs267607751
|
|
NM_000249.4(MLH1):c.453+2_453+7delinsGATC
|
rs1575441094
|
|
NM_000249.4(MLH1):c.453+554C>T
|
rs267607748
|
|
NM_000249.4(MLH1):c.454-13A>G
|
rs267607749
|
|
NM_000249.4(MLH1):c.454-1G>A
|
rs193922370
|
|
NM_000249.4(MLH1):c.454-1G>C
|
rs193922370
|
|
NM_000249.4(MLH1):c.454-1G>T
|
rs193922370
|
|
NM_000249.4(MLH1):c.454-2A>G
|
rs267607753
|
|
NM_000249.4(MLH1):c.454-432_546-1030del
|
|
|
NM_000249.4(MLH1):c.454-466_546-1062del
|
|
|
NM_000249.4(MLH1):c.454-501_546-1098del
|
|
|
NM_000249.4(MLH1):c.454-665_545+49del
|
rs1553642492
|
|
NM_000249.4(MLH1):c.456_545+2del
|
rs1553642657
|
|
NM_000249.4(MLH1):c.461del (p.Asp154fs)
|
|
|
NM_000249.4(MLH1):c.463del (p.Leu155fs)
|
rs2082049708
|
|
NM_000249.4(MLH1):c.464T>G (p.Leu155Arg)
|
rs63750891
|
|
NM_000249.4(MLH1):c.466T>C (p.Phe156Leu)
|
rs1060500691
|
|
NM_000249.4(MLH1):c.468_469del (p.Phe156fs)
|
rs63751101
|
|
NM_000249.4(MLH1):c.469dup (p.Tyr157fs)
|
rs63751101
|
|
NM_000249.4(MLH1):c.471C>G (p.Tyr157Ter)
|
|
|
NM_000249.4(MLH1):c.473del (p.Asn158fs)
|
rs2082051355
|
|
NM_000249.4(MLH1):c.47T>G (p.Val16Gly)
|
rs1553637237
|
|
NM_000249.4(MLH1):c.47_53del (p.Val16fs)
|
rs876658923
|
|
NM_000249.4(MLH1):c.485G>A (p.Arg162Lys)
|
|
|
NM_000249.4(MLH1):c.488del (p.Arg163fs)
|
rs267607754
|
|
NM_000249.4(MLH1):c.492del (p.Ala165fs)
|
rs1553642698
|
|
NM_000249.4(MLH1):c.493del (p.Ala165fs)
|
rs1553642707
|
|
NM_000249.4(MLH1):c.497T>A (p.Leu166Ter)
|
rs267607755
|
|
NM_000249.4(MLH1):c.497T>G (p.Leu166Ter)
|
rs267607755
|
|
NM_000249.4(MLH1):c.497del (p.Ala165_Leu166insTer)
|
rs587779018
|
|
NM_000249.4(MLH1):c.502_503del (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.503del (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.503dup (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.508A>G (p.Ser170Gly)
|
rs1287294691
|
|
NM_000249.4(MLH1):c.513del (p.Glu172fs)
|
rs63749944
|
|
NM_000249.4(MLH1):c.514G>T (p.Glu172Ter)
|
rs1559524405
|
|
NM_000249.4(MLH1):c.519T>A (p.Tyr173Ter)
|
|
|
NM_000249.4(MLH1):c.524_525insGA (p.Ile176fs)
|
rs587779019
|
|
NM_000249.4(MLH1):c.526del (p.Ile176fs)
|
rs1575449093
|
|
NM_000249.4(MLH1):c.52C>G (p.Arg18Gly)
|
rs367654552
|
|
NM_000249.4(MLH1):c.52_59del (p.Arg18fs)
|
rs2125694037
|
|
NM_000249.4(MLH1):c.52del (p.Arg18fs)
|
rs63749804
|
|
NM_000249.4(MLH1):c.531_532delinsAT (p.Glu178Ter)
|
rs63750903
|
|
NM_000249.4(MLH1):c.531_532delinsCT (p.Leu177_Glu178delinsPheTer)
|
rs63750903
|
|
NM_000249.4(MLH1):c.532G>A (p.Glu178Lys)
|
rs1248251121
|
|
NM_000249.4(MLH1):c.532G>T (p.Glu178Ter)
|
rs1248251121
|
|
NM_000249.4(MLH1):c.532del (p.Glu178fs)
|
|
|
NM_000249.4(MLH1):c.538G>T (p.Val180Phe)
|
rs1559524603
|
|
NM_000249.4(MLH1):c.53G>A (p.Arg18His)
|
rs1553637254
|
|
NM_000249.4(MLH1):c.543C>G (p.Gly181=)
|
rs1481129490
|
|
NM_000249.4(MLH1):c.543C>T (p.Gly181=)
|
rs1481129490
|
|
NM_000249.4(MLH1):c.544A>G (p.Arg182Gly)
|
rs63750211
|
|
NM_000249.4(MLH1):c.545+1G>A
|
rs267607765
|
|
NM_000249.4(MLH1):c.545+1G>C
|
|
|
NM_000249.4(MLH1):c.545+1G>T
|
rs267607765
|
|
NM_000249.4(MLH1):c.545+2T>A
|
|
|
NM_000249.4(MLH1):c.545+2T>C
|
rs1575449402
|
|
NM_000249.4(MLH1):c.545+3A>G
|
rs267607760
|
|
NM_000249.4(MLH1):c.545G>A (p.Arg182Lys)
|
rs587779021
|
|
NM_000249.4(MLH1):c.545G>C (p.Arg182Thr)
|
rs587779021
|
|
NM_000249.4(MLH1):c.546-1G>A
|
rs587779022
|
|
NM_000249.4(MLH1):c.546-1G>C
|
rs587779022
|
|
NM_000249.4(MLH1):c.546-2A>C
|
rs267607759
|
|
NM_000249.4(MLH1):c.546-2A>G
|
rs267607759
|
|
NM_000249.4(MLH1):c.546-2A>T
|
rs267607759
|
|
NM_000249.4(MLH1):c.546-2_589-59del
|
rs2125805231
|
|
NM_000249.4(MLH1):c.546-361_885-811del
|
|
|
NM_000249.4(MLH1):c.546-5del
|
rs1553643965
|
|
NM_000249.4(MLH1):c.551C>G (p.Ser184Ter)
|
rs1064796057
|
|
NM_000249.4(MLH1):c.553G>A (p.Val185Ile)
|
rs63750012
|
|
NM_000249.4(MLH1):c.554T>G (p.Val185Gly)
|
rs63750515
|
|
NM_000249.4(MLH1):c.556del (p.His186fs)
|
|
|
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe)
|
rs63750648
|
|
NM_000249.4(MLH1):c.55_63delinsT (p.Ile19fs)
|
rs2125694105
|
|
NM_000249.4(MLH1):c.560dup (p.Asn187fs)
|
|
|
NM_000249.4(MLH1):c.562_581del (p.Asn187_Ala188insTer)
|
|
|
NM_000249.4(MLH1):c.562dup (p.Ala188fs)
|
|
|
NM_000249.4(MLH1):c.56del (p.Ile19fs)
|
|
|
NM_000249.4(MLH1):c.574_588+2del
|
rs587779023
|
|
NM_000249.4(MLH1):c.577T>C (p.Ser193Pro)
|
rs63751021
|
|
NM_000249.4(MLH1):c.578C>G (p.Ser193Ter)
|
rs63751480
|
|
NM_000249.4(MLH1):c.582del (p.Lys196fs)
|
|
|
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter)
|
rs863225383
|
|
NM_000249.4(MLH1):c.586A>T (p.Lys196Ter)
|
rs63750500
|
|
NM_000249.4(MLH1):c.588+1G>A
|
|
|
NM_000249.4(MLH1):c.588+1G>T
|
rs267607772
|
|
NM_000249.4(MLH1):c.588+1del
|
rs267607773
|
|
NM_000249.4(MLH1):c.588+2T>A
|
rs587779024
|
|
NM_000249.4(MLH1):c.588+2T>C
|
|
|
NM_000249.4(MLH1):c.588+2T>G
|
rs587779024
|
|
NM_000249.4(MLH1):c.588+5G>A
|
rs267607768
|
|
NM_000249.4(MLH1):c.588+5G>C
|
rs267607768
|
|
NM_000249.4(MLH1):c.588del (p.Lys196fs)
|
rs63751653
|
|
NM_000249.4(MLH1):c.588dup (p.Gln197fs)
|
rs63751653
|
|
NM_000249.4(MLH1):c.589-1G>A
|
rs587779027
|
|
NM_000249.4(MLH1):c.589-1G>T
|
rs587779027
|
|
NM_000249.4(MLH1):c.589-24T>C
|
rs1057517607
|
|
NM_000249.4(MLH1):c.589-2A>C
|
rs267607767
|
|
NM_000249.4(MLH1):c.589-2A>G
|
rs267607767
|
|
NM_000249.4(MLH1):c.589-6T>G
|
rs781244266
|
|
NM_000249.4(MLH1):c.589C>T (p.Gln197Ter)
|
rs1553644123
|
|
NM_000249.4(MLH1):c.592G>T (p.Gly198Ter)
|
rs2125808143
|
|
NM_000249.4(MLH1):c.597_598del (p.Glu199fs)
|
rs63751637
|
|
NM_000249.4(MLH1):c.597_598dup (p.Thr200fs)
|
|
|
NM_000249.4(MLH1):c.5C>A (p.Ser2Ter)
|
rs587779029
|
|
NM_000249.4(MLH1):c.61del (p.Ala21fs)
|
rs63750581
|
|
NM_000249.4(MLH1):c.620dup (p.Pro208fs)
|
|
|
NM_000249.4(MLH1):c.62C>A (p.Ala21Glu)
|
rs63750706
|
|
NM_000249.4(MLH1):c.62C>T (p.Ala21Val)
|
rs63750706
|
|
NM_000249.4(MLH1):c.62_68delinsTT (p.Ala21fs)
|
|
|
NM_000249.4(MLH1):c.62del (p.Ala21fs)
|
|
|
NM_000249.4(MLH1):c.632_633insT (p.Thr212fs)
|
rs63750908
|
|
NM_000249.4(MLH1):c.632del (p.Ala210_Ser211insTer)
|
rs1575469070
|
|
NM_000249.4(MLH1):c.637G>T (p.Val213Leu)
|
rs2308317
|
|
NM_000249.4(MLH1):c.63_76delinsCGCATT (p.Gly22fs)
|
|
|
NM_000249.4(MLH1):c.648del (p.Arg217fs)
|
|
|
NM_000249.4(MLH1):c.649C>A (p.Arg217Ser)
|
rs4986984
|
|
NM_000249.4(MLH1):c.649del (p.Arg217fs)
|
rs63750380
|
|
NM_000249.4(MLH1):c.654dup (p.Ile219fs)
|
|
|
NM_000249.4(MLH1):c.655A>C (p.Ile219Leu)
|
rs1799977
|
|
NM_000249.4(MLH1):c.665del (p.Asn222fs)
|
rs63750385
|
|
NM_000249.4(MLH1):c.665dup (p.Asn222fs)
|
rs63750385
|
|
NM_000249.4(MLH1):c.668C>G (p.Ala223Gly)
|
rs756045117
|
|
NM_000249.4(MLH1):c.670G>A (p.Val224Ile)
|
rs1553644251
|
|
NM_000249.4(MLH1):c.672del (p.Ser225fs)
|
rs587779031
|
|
NM_000249.4(MLH1):c.672dup (p.Ser225Ter)
|
|
|
NM_000249.4(MLH1):c.673_676del (p.Ser225fs)
|
rs267607774
|
|
NM_000249.4(MLH1):c.673dup (p.Ser225fs)
|
rs1575469505
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
NM_000249.4(MLH1):c.677+1G>A
|
rs267607778
|
|
NM_000249.4(MLH1):c.677+1G>T
|
rs267607778
|
|
NM_000249.4(MLH1):c.677+1del
|
rs267607779
|
|
NM_000249.4(MLH1):c.677+3A>G
|
rs267607780
|
|
NM_000249.4(MLH1):c.677+3A>T
|
rs267607780
|
|
NM_000249.4(MLH1):c.677+5G>A
|
rs587779034
|
|
NM_000249.4(MLH1):c.677+7C>T
|
rs556224377
|
|
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)
|
rs63751711
|
|
NM_000249.4(MLH1):c.677G>T (p.Arg226Leu)
|
rs63751711
|
|
NM_000249.4(MLH1):c.677_677+1delinsAT
|
rs587779032
|
|
NM_000249.4(MLH1):c.677_677+1insT
|
rs587779033
|
|
NM_000249.4(MLH1):c.678-1G>A
|
rs267607784
|
|
NM_000249.4(MLH1):c.678-1G>C
|
rs267607784
|
|
NM_000249.4(MLH1):c.678-1G>T
|
rs267607784
|
|
NM_000249.4(MLH1):c.678-2A>C
|
|
|
NM_000249.4(MLH1):c.678-2A>G
|
rs587779035
|
|
NM_000249.4(MLH1):c.678-3_678-1del
|
|
|
NM_000249.4(MLH1):c.678-3_678-2del
|
rs267607783
|
|
NM_000249.4(MLH1):c.678-9_693del
|
rs587779036
|
|
NM_000249.4(MLH1):c.679del (p.Glu227fs)
|
|
|
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)
|
rs63750823
|
|
NM_000249.4(MLH1):c.67del (p.Glu23fs)
|
rs63750822
|
|
NM_000249.4(MLH1):c.67dup (p.Glu23fs)
|
rs63750822
|
|
NM_000249.4(MLH1):c.683dup (p.Ile229fs)
|
rs63751659
|
|
NM_000249.4(MLH1):c.688_691del (p.Glu230fs)
|
|
|
NM_000249.4(MLH1):c.693del (p.Ile231fs)
|
rs63750764
|
|
NM_000249.4(MLH1):c.699T>A (p.Cys233Ter)
|
rs764085979
|
|
NM_000249.4(MLH1):c.69A>T (p.Glu23Asp)
|
rs63750555
|
|
NM_000249.4(MLH1):c.69del (p.Val24fs)
|
|
|
NM_000249.4(MLH1):c.700G>T (p.Glu234Ter)
|
|
|
NM_000249.4(MLH1):c.704del (p.Asp235fs)
|
|
|
NM_000249.4(MLH1):c.705T>C (p.Asp235=)
|
rs876658869
|
|
NM_000249.4(MLH1):c.706_725del (p.Lys236fs)
|
rs863224480
|
|
NM_000249.4(MLH1):c.70G>A (p.Val24Ile)
|
rs1348994712
|
|
NM_000249.4(MLH1):c.70del (p.Val24fs)
|
rs63751396
|
|
NM_000249.4(MLH1):c.716C>T (p.Ala239Val)
|
rs1559534371
|
|
NM_000249.4(MLH1):c.717del (p.Phe240fs)
|
rs1064794373
|
|
NM_000249.4(MLH1):c.71_75del (p.Val24fs)
|
rs1553637293
|
|
NM_000249.4(MLH1):c.726G>A (p.Met242Ile)
|
rs1559534445
|
|
NM_000249.4(MLH1):c.727_730del (p.Asn243fs)
|
rs267607787
|
|
NM_000249.4(MLH1):c.731G>A (p.Gly244Asp)
|
rs63750303
|
|
NM_000249.4(MLH1):c.731G>T (p.Gly244Val)
|
rs63750303
|
|
NM_000249.4(MLH1):c.731_734del (p.Gly244fs)
|
rs587779037
|
|
NM_000249.4(MLH1):c.734dup (p.Tyr245Ter)
|
|
|
NM_000249.4(MLH1):c.735C>G (p.Tyr245Ter)
|
rs1553645226
|
|
NM_000249.4(MLH1):c.735del (p.Gly244_Tyr245insTer)
|
|
|
NM_000249.4(MLH1):c.737del (p.Ile246fs)
|
|
|
NM_000249.4(MLH1):c.739T>C (p.Ser247Pro)
|
rs63750948
|
|
NM_000249.4(MLH1):c.73A>T (p.Ile25Phe)
|
rs63749838
|
|
NM_000249.4(MLH1):c.73del (p.Ile25fs)
|
rs63749839
|
|
NM_000249.4(MLH1):c.743del (p.Asn248fs)
|
|
|
NM_000249.4(MLH1):c.745dup (p.Ala249fs)
|
rs63750819
|
|
NM_000249.4(MLH1):c.749_754delinsC (p.Asn250fs)
|
|
|
NM_000249.4(MLH1):c.753C>G (p.Tyr251Ter)
|
rs63750310
|
|
NM_000249.4(MLH1):c.753_755del (p.Tyr251_Ser252delinsTer)
|
rs1553645256
|
|
NM_000249.4(MLH1):c.755C>A (p.Ser252Ter)
|
rs63750198
|
|
NM_000249.4(MLH1):c.755C>G (p.Ser252Ter)
|
rs63750198
|
|
NM_000249.4(MLH1):c.755C>T (p.Ser252Leu)
|
rs63750198
|
|
NM_000249.4(MLH1):c.755del (p.Tyr251_Ser252insTer)
|
rs1064793172
|
|
NM_000249.4(MLH1):c.768del (p.Lys255_Cys256insTer)
|
|
|
NM_000249.4(MLH1):c.76C>T (p.Gln26Ter)
|
rs63749827
|
|
NM_000249.4(MLH1):c.76del (p.Gln26fs)
|
rs63749828
|
|
NM_000249.4(MLH1):c.776dup (p.Leu259fs)
|
|
|
NM_000249.4(MLH1):c.779T>A (p.Leu260His)
|
rs63751283
|
|
NM_000249.4(MLH1):c.779T>G (p.Leu260Arg)
|
rs63751283
|
|
NM_000249.4(MLH1):c.77del (p.Gln26fs)
|
rs1575376830
|
|
NM_000249.4(MLH1):c.782TCA[1] (p.Ile262del)
|
rs587779039
|
|
NM_000249.4(MLH1):c.783dup (p.Ile262fs)
|
rs1553645331
|
|
NM_000249.4(MLH1):c.78del (p.Gln26fs)
|
rs587779040
|
|
NM_000249.4(MLH1):c.790+17dup
|
rs757064565
|
|
NM_000249.4(MLH1):c.790+1G>A
|
rs267607789
|
|
NM_000249.4(MLH1):c.790+1G>C
|
rs267607789
|
|
NM_000249.4(MLH1):c.790+1G>T
|
rs267607789
|
|
NM_000249.4(MLH1):c.790+1del
|
rs267607798
|
|
NM_000249.4(MLH1):c.790+2T>A
|
rs267607790
|
|
NM_000249.4(MLH1):c.790+2T>C
|
rs267607790
|
|
NM_000249.4(MLH1):c.790+2_790+24del
|
|
|
NM_000249.4(MLH1):c.790+2dup
|
rs267607791
|
|
NM_000249.4(MLH1):c.790+3A>T
|
rs267607792
|
|
NM_000249.4(MLH1):c.790+4A>G
|
rs267607786
|
|
NM_000249.4(MLH1):c.790+4A>T
|
rs267607786
|
|
NM_000249.4(MLH1):c.790+5G>A
|
rs267607771
|
|
NM_000249.4(MLH1):c.790+5G>T
|
rs267607771
|
|
NM_000249.4(MLH1):c.790C>G (p.His264Asp)
|
rs63751597
|
|
NM_000249.4(MLH1):c.791-1G>A
|
rs267607795
|
|
NM_000249.4(MLH1):c.791-1G>C
|
rs267607795
|
|
NM_000249.4(MLH1):c.791-1G>T
|
rs267607795
|
|
NM_000249.4(MLH1):c.791-23del
|
rs267607797
|
|
NM_000249.4(MLH1):c.791-2A>G
|
rs267607794
|
|
NM_000249.4(MLH1):c.791-2A>T
|
rs267607794
|
|
NM_000249.4(MLH1):c.791-3T>G
|
|
|
NM_000249.4(MLH1):c.791-4_795del
|
rs587779041
|
|
NM_000249.4(MLH1):c.791-5T>G
|
rs267607788
|
|
NM_000249.4(MLH1):c.791-7T>A
|
rs587779042
|
|
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)
|
rs63751194
|
|
NM_000249.4(MLH1):c.793C>G (p.Arg265Gly)
|
rs63751194
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
NM_000249.4(MLH1):c.793_794delinsGT (p.Arg265Val)
|
rs1559539068
|
|
NM_000249.4(MLH1):c.793del (p.Arg265fs)
|
rs863225384
|
|
NM_000249.4(MLH1):c.794G>C (p.Arg265Pro)
|
rs63751448
|
|
NM_000249.4(MLH1):c.794_800del (p.Arg265fs)
|
rs876660458
|
|
NM_000249.4(MLH1):c.796del (p.Leu266fs)
|
rs1553646602
|
|
NM_000249.4(MLH1):c.804del (p.Glu268fs)
|
|
|
NM_000249.4(MLH1):c.805del (p.Ser269fs)
|
|
|
NM_000249.4(MLH1):c.806C>G (p.Ser269Ter)
|
rs63750691
|
|
NM_000249.4(MLH1):c.808_811del (p.Thr270fs)
|
rs267607801
|
|
NM_000249.4(MLH1):c.809del (p.Thr270fs)
|
|
|
NM_000249.4(MLH1):c.80G>C (p.Arg27Pro)
|
rs138705565
|
|
NM_000249.4(MLH1):c.80_86del (p.Arg27fs)
|
|
|
NM_000249.4(MLH1):c.811_815del (p.Ser271fs)
|
rs587779043
|
|
NM_000249.4(MLH1):c.815T>A (p.Leu272Ter)
|
rs63750584
|
|
NM_000249.4(MLH1):c.816del (p.Arg273fs)
|
rs2125837110
|
|
NM_000249.4(MLH1):c.81G>A (p.Arg27=)
|
rs878853791
|
|
NM_000249.4(MLH1):c.821_824dup (p.Ile276fs)
|
rs63751439
|
|
NM_000249.4(MLH1):c.822del (p.Ala275fs)
|
|
|
NM_000249.4(MLH1):c.826dup (p.Ile276fs)
|
rs878853792
|
|
NM_000249.4(MLH1):c.827T>G (p.Ile276Arg)
|
rs1253275403
|
|
NM_000249.4(MLH1):c.828del (p.Ile276fs)
|
|
|
NM_000249.4(MLH1):c.832del (p.Thr278fs)
|
rs1064794122
|
|
NM_000249.4(MLH1):c.833_834dup (p.Val279fs)
|
rs1553646681
|
|
NM_000249.4(MLH1):c.835G>C (p.Val279Leu)
|
rs1559539382
|
|
NM_000249.4(MLH1):c.836T>G (p.Val279Gly)
|
rs1553646683
|
|
NM_000249.4(MLH1):c.83C>T (p.Pro28Leu)
|
rs63750792
|
|
NM_000249.4(MLH1):c.840T>A (p.Tyr280Ter)
|
rs63750938
|
|
NM_000249.4(MLH1):c.842C>T (p.Ala281Val)
|
rs63749950
|
|
NM_000249.4(MLH1):c.844G>A (p.Ala282Thr)
|
rs774689817
|
|
NM_000249.4(MLH1):c.848A>T (p.Tyr283Phe)
|
rs201931669
|
|
NM_000249.4(MLH1):c.849T>A (p.Tyr283Ter)
|
|
|
NM_000249.4(MLH1):c.84del (p.Ala29fs)
|
rs587779045
|
|
NM_000249.4(MLH1):c.851T>A (p.Leu284Ter)
|
rs63750889
|
|
NM_000249.4(MLH1):c.856_857insT (p.Lys286fs)
|
rs63750212
|
|
NM_000249.4(MLH1):c.859_860del (p.Asn287fs)
|
rs63750034
|
|
NM_000249.4(MLH1):c.85G>T (p.Ala29Ser)
|
rs63750656
|
|
NM_000249.4(MLH1):c.860del (p.Asn287fs)
|
rs63750034
|
|
NM_000249.4(MLH1):c.860dup (p.Asn287fs)
|
rs63750034
|
|
NM_000249.4(MLH1):c.865del (p.His289fs)
|
|
|
NM_000249.4(MLH1):c.866_867del (p.His289fs)
|
rs587779047
|
|
NM_000249.4(MLH1):c.866_867dup (p.Pro290fs)
|
rs587779047
|
|
NM_000249.4(MLH1):c.86C>G (p.Ala29Gly)
|
rs63750216
|
|
NM_000249.4(MLH1):c.875T>C (p.Leu292Pro)
|
rs63750517
|
|
NM_000249.4(MLH1):c.879C>G (p.Tyr293Ter)
|
|
|
NM_000249.4(MLH1):c.882C>T (p.Leu294=)
|
rs63751707
|
|
NM_000249.4(MLH1):c.883A>C (p.Ser295Arg)
|
rs63751598
|
|
NM_000249.4(MLH1):c.883A>G (p.Ser295Gly)
|
rs63751598
|
|
NM_000249.4(MLH1):c.884+1G>A
|
rs1553646764
|
|
NM_000249.4(MLH1):c.884+1_884+2del
|
|
|
NM_000249.4(MLH1):c.884+1_884+2insATGGG
|
|
|
NM_000249.4(MLH1):c.884+2T>C
|
rs267607806
|
|
NM_000249.4(MLH1):c.884+3A>G
|
rs267607803
|
|
NM_000249.4(MLH1):c.884+4A>G
|
rs267607777
|
|
NM_000249.4(MLH1):c.884+6G>A
|
rs1575496158
|
|
NM_000249.4(MLH1):c.884G>A (p.Ser295Asn)
|
rs63750144
|
|
NM_000249.4(MLH1):c.884G>C (p.Ser295Thr)
|
rs63750144
|
|
NM_000249.4(MLH1):c.884_884+3del
|
rs587779050
|
|
NM_000249.4(MLH1):c.885-1G>A
|
rs1553647894
|
|
NM_000249.4(MLH1):c.885-206_997del
|
rs1553647795
|
|
NM_000249.4(MLH1):c.885-21TC[2]
|
rs267607804
|
|
NM_000249.4(MLH1):c.885-2A>C
|
rs267607805
|
|
NM_000249.4(MLH1):c.885-2A>G
|
rs267607805
|
|
NM_000249.4(MLH1):c.885-493_1039-372del
|
|
|
NM_000249.4(MLH1):c.885-594_1038+1123del
|
|
|
NM_000249.4(MLH1):c.885-8C>T
|
rs762836160
|
|
NM_000249.4(MLH1):c.887T>A (p.Leu296Ter)
|
|
|
NM_000249.4(MLH1):c.887T>G (p.Leu296Ter)
|
rs63750547
|
|
NM_000249.4(MLH1):c.887_890del (p.Ser295_Leu296insTer)
|
|
|
NM_000249.4(MLH1):c.887dup (p.Leu296fs)
|
rs63751620
|
|
NM_000249.4(MLH1):c.888_890delinsC (p.Leu296fs)
|
|
|
NM_000249.4(MLH1):c.888del (p.Glu297fs)
|
rs267607809
|
|
NM_000249.4(MLH1):c.889G>T (p.Glu297Ter)
|
rs63750736
|
|
NM_000249.4(MLH1):c.88_108del (p.Asn30_Ile36del)
|
|
|
NM_000249.4(MLH1):c.898_908del (p.Pro300fs)
|
rs1553647928
|
|
NM_000249.4(MLH1):c.8del (p.Phe3fs)
|
|
|
NM_000249.4(MLH1):c.901C>T (p.Gln301Ter)
|
rs63750489
|
|
NM_000249.4(MLH1):c.901del (p.Gln301fs)
|
rs587779052
|
|
NM_000249.4(MLH1):c.90T>G (p.Asn30Lys)
|
rs863224637
|
|
NM_000249.4(MLH1):c.911A>T (p.Asp304Val)
|
rs63750993
|
|
NM_000249.4(MLH1):c.911del (p.Asp304fs)
|
rs1553647969
|
|
NM_000249.4(MLH1):c.918T>A (p.Asn306Lys)
|
rs587779054
|
|
NM_000249.4(MLH1):c.918del (p.Asn306fs)
|
rs876660214
|
|
NM_000249.4(MLH1):c.91G>A (p.Ala31Thr)
|
rs749671520
|
|
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)
|
rs63749994
|
|
NM_000249.4(MLH1):c.920T>C (p.Val307Ala)
|
rs863224638
|
|
NM_000249.4(MLH1):c.921_922dup (p.His308fs)
|
rs63750962
|
|
NM_000249.4(MLH1):c.923A>C (p.His308Pro)
|
rs1559543768
|
|
NM_000249.4(MLH1):c.923del (p.His308fs)
|
|
|
NM_000249.4(MLH1):c.927C>T (p.Pro309=)
|
rs63749896
|
|
NM_000249.4(MLH1):c.927dup (p.Thr310fs)
|
rs1553647995
|
|
NM_000249.4(MLH1):c.928del (p.Thr310fs)
|
rs587779055
|
|
NM_000249.4(MLH1):c.92C>A (p.Ala31Asp)
|
|
|
NM_000249.4(MLH1):c.931A>G (p.Lys311Glu)
|
rs876658657
|
|
NM_000249.4(MLH1):c.932del (p.Lys311fs)
|
|
|
NM_000249.4(MLH1):c.935dup (p.His312fs)
|
rs63750319
|
|
NM_000249.4(MLH1):c.939dup (p.Val314fs)
|
rs63751259
|
|
NM_000249.4(MLH1):c.93del (p.Ile32fs)
|
|
|
NM_000249.4(MLH1):c.940G>A (p.Val314Ile)
|
|
|
NM_000249.4(MLH1):c.940del (p.Val314fs)
|
rs1553648023
|
|
NM_000249.4(MLH1):c.941T>G (p.Val314Gly)
|
rs2082977512
|
|
NM_000249.4(MLH1):c.946_954del (p.Phe316_His318del)
|
rs1575509703
|
|
NM_000249.4(MLH1):c.949del (p.Leu317fs)
|
rs1553648029
|
|
NM_000249.4(MLH1):c.94del (p.Ile32fs)
|
rs1064793607
|
|
NM_000249.4(MLH1):c.954C>A (p.His318Gln)
|
rs146777069
|
|
NM_000249.4(MLH1):c.954del (p.His318fs)
|
rs63749926
|
|
NM_000249.4(MLH1):c.955G>T (p.Glu319Ter)
|
rs63750796
|
|
NM_000249.4(MLH1):c.957_959delinsT (p.Glu319fs)
|
rs1559544064
|
|
NM_000249.4(MLH1):c.958G>T (p.Glu320Ter)
|
rs1553648040
|
|
NM_000249.4(MLH1):c.958del (p.Glu320fs)
|
|
|
NM_000249.4(MLH1):c.960_964dup (p.Ile322fs)
|
rs1553648047
|
|
NM_000249.4(MLH1):c.961_962dup (p.Ser321fs)
|
rs878853794
|
|
NM_000249.4(MLH1):c.967del (p.Leu323fs)
|
|
|
NM_000249.4(MLH1):c.967dup (p.Leu323fs)
|
|
|
NM_000249.4(MLH1):c.970G>T (p.Glu324Ter)
|
rs1553648068
|
|
NM_000249.4(MLH1):c.970del (p.Glu324fs)
|
rs876658247
|
|
NM_000249.4(MLH1):c.971dup (p.Arg325fs)
|
rs587781554
|
|
NM_000249.4(MLH1):c.973C>G (p.Arg325Gly)
|
|
|
NM_000249.4(MLH1):c.976G>T (p.Val326Leu)
|
rs730881739
|
|
NM_000249.4(MLH1):c.976del (p.Val326fs)
|
rs786204317
|
|
NM_000249.4(MLH1):c.976dup (p.Val326fs)
|
|
|
NM_000249.4(MLH1):c.978GCA[2] (p.Gln328del)
|
rs2082985381
|
|
NM_000249.4(MLH1):c.978_979delinsTT (p.Gln327Ter)
|
|
|
NM_000249.4(MLH1):c.979C>T (p.Gln327Ter)
|
rs587782087
|
|
NM_000249.4(MLH1):c.980_983dup (p.His329fs)
|
rs1559544297
|
|
NM_000249.4(MLH1):c.982C>T (p.Gln328Ter)
|
rs587779058
|
|
NM_000249.4(MLH1):c.986A>C (p.His329Pro)
|
rs63750710
|
|
NM_000249.4(MLH1):c.986A>G (p.His329Arg)
|
rs63750710
|
|
NM_000249.4(MLH1):c.988_990del (p.Ile330del)
|
rs63751197
|
|
NM_000249.4(MLH1):c.990del (p.Ile330fs)
|
|
|
NM_000249.4(MLH1):c.991G>C (p.Glu331Gln)
|
rs550914672
|
|
NM_000249.4(MLH1):c.991G>T (p.Glu331Ter)
|
|
|
NM_000249.4(MLH1):c.992del (p.Glu331fs)
|
|
|
NM_000249.4(MLH1):c.994del (p.Ser332fs)
|
rs63750533
|
|
NM_000249.4(MLH1):c.994dup (p.Ser332fs)
|
|
|
NM_000249.4(MLH1):c.996del (p.Ser332fs)
|
|
|
NM_000249.4(MLH1):c.997_1000del (p.Lys333fs)
|
rs1553648149
|
|
NM_000249.4(MLH1):c.9_21del (p.Phe3fs)
|
rs1064795341
|
|
NM_000249.4(MLH1):c.9del (p.Phe3fs)
|
rs63750745
|
|
NM_000251.1(MSH2):c.(?_-68)_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_1276+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_1386+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_1661+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_1759+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_211+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_2634+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_366+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_645+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_792+?del
|
|
|
NM_000251.1(MSH2):c.(?_-68)_942+?del
|
|
|
NM_000251.1(MSH2):c.-11844_1077-6021delins155
|
|
|
NM_000251.1(MSH2):c.-1753_645+922del
|
|
|
NM_000251.1(MSH2):c.-35298_1276+5697del
|
|
|
NM_000251.1(MSH2):c.-47156_1277-4980del
|
|
|
NM_000251.1(MSH2):c.-4729_367-353del
|
|
|
NM_000251.1(MSH2):c.-75398_1759+1708del
|
|
|
NM_000251.1(MSH2):c.-823_1076+5984del
|
|
|
NM_000251.1(MSH2):c.-956_1077-5607del
|
|
|
NM_000251.1(MSH2):c.1077-?_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.1276+232_1386+3798del
|
|
|
NM_000251.1(MSH2):c.1277-?_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.1387-3976_1662-364del
|
|
|
NM_000251.1(MSH2):c.1387-?_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.1662-?_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.1760-?_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.211+1566_1277-3954del
|
|
|
NM_000251.1(MSH2):c.2459-?_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.2635-?_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.645+539_1077-3451del
|
|
|
NM_000251.1(MSH2):c.645+791_1076+4894del
|
|
|
NM_000251.1(MSH2):c.645+967_1076+5075del
|
|
|
NM_000251.1(MSH2):c.646-?_(*272_?)del
|
|
|
NM_000251.1(MSH2):c.943-926_1077-1449del
|
|
|
NM_000251.1(MSH2):c.972_973insNM_002133.2:c.737-1292_737-1109
|
|
|
NM_000251.2(MSH2):c.(?_-1)_1076+?del
|
|
|
NM_000251.2(MSH2):c.(?_-68)_1076+?del
|
|
|
NM_000251.2(MSH2):c.-125_1076+?del
|
|
|
NM_000251.2(MSH2):c.-125_1076+?dup1201
|
|
|
NM_000251.2(MSH2):c.-125_645+?del
|
|
|
NM_000251.2(MSH2):c.-68G>A
|
rs576303132
|
|
NM_000251.2(MSH2):c.-78_-77del
|
rs587779182
|
|
NM_000251.2(MSH2):c.-81dup
|
rs587779187
|
|
NM_000251.2(MSH2):c.-82G>C
|
rs866991159
|
|
NM_000251.2(MSH2):c.1077-66_1146del
|
rs193922372
|
|
NM_000251.2(MSH2):c.1077-?_*279+?del
|
|
|
NM_000251.2(MSH2):c.1077-?_1276+?del
|
|
|
NM_000251.2(MSH2):c.1077-?_1276+?dup
|
|
|
NM_000251.2(MSH2):c.1077-?_1276+?dup200
|
|
|
NM_000251.2(MSH2):c.1077-?_1386+?del
|
|
|
NM_000251.2(MSH2):c.1077-?_1661+?del
|
|
|
NM_000251.2(MSH2):c.1077-?_2005+?del
|
|
|
NM_000251.2(MSH2):c.1077_1078ins173 (p.?)
|
|
|
NM_000251.2(MSH2):c.1277-6224_1386+4836del
|
|
|
NM_000251.2(MSH2):c.1277-6284_1386+4776del
|
|
|
NM_000251.2(MSH2):c.1277-?_*(272_?)inv
|
|
|
NM_000251.2(MSH2):c.1277-?_1386+?del
|
|
|
NM_000251.2(MSH2):c.1277-?_1661+?del
|
|
|
NM_000251.2(MSH2):c.1277-?_1759+?del
|
|
|
NM_000251.2(MSH2):c.1277-?_2634+?del
|
|
|
NM_000251.2(MSH2):c.1311_1334del24insNM_000251.1:c.1338_1361inv24 (p.Thr438_Ser445delinsPheSerLysPheGlnGluMetIle)
|
|
|
NM_000251.2(MSH2):c.1387-?_1510+?del
|
|
|
NM_000251.2(MSH2):c.1387-?_1661+?del
|
|
|
NM_000251.2(MSH2):c.1387-?_1661+?dup275
|
|
|
NM_000251.2(MSH2):c.1387-?_2458+?del
|
|
|
NM_000251.2(MSH2):c.1511-?_2005+?del
|
|
|
NM_000251.2(MSH2):c.1662-?_*(1_?)del
|
|
|
NM_000251.2(MSH2):c.1662-?_1759+?del
|
|
|
NM_000251.2(MSH2):c.1662-?_2458+?del
|
|
|
NM_000251.2(MSH2):c.1760-?_2005+?del
|
|
|
NM_000251.2(MSH2):c.1760-?_2210+?del
|
|
|
NM_000251.2(MSH2):c.1760-?_2458+?del
|
|
|
NM_000251.2(MSH2):c.2006-?_2210+?del
|
|
|
NM_000251.2(MSH2):c.2048_2111dup (p.Ile704Metfs)
|
rs1553369051
|
|
NM_000251.2(MSH2):c.212-?_1276+?del
|
|
|
NM_000251.2(MSH2):c.212-?_1386+?del
|
|
|
NM_000251.2(MSH2):c.212-?_1510+?del
|
|
|
NM_000251.2(MSH2):c.212-?_2458+?del
|
|
|
NM_000251.2(MSH2):c.212-?_366+?del
|
|
|
NM_000251.2(MSH2):c.212-?_366+?dup
|
|
|
NM_000251.2(MSH2):c.212-?_645+?del
|
|
|
NM_000251.2(MSH2):c.2211-?_2458+?del
|
|
|
NM_000251.2(MSH2):c.2459-?_2634+?del
|
|
|
NM_000251.2(MSH2):c.2620_2621ins115 (p.?)
|
|
|
NM_000251.2(MSH2):c.367-?_1076+?del
|
|
|
NM_000251.2(MSH2):c.367-?_1276+?del
|
|
|
NM_000251.2(MSH2):c.367-?_1386+?del
|
|
|
NM_000251.2(MSH2):c.367-?_1759+?del
|
|
|
NM_000251.2(MSH2):c.367-?_645+?del
|
|
|
NM_000251.2(MSH2):c.367-?_942+?del
|
|
|
NM_000251.2(MSH2):c.646-?_1076+?del
|
|
|
NM_000251.2(MSH2):c.646-?_1276+?del
|
|
|
NM_000251.2(MSH2):c.646-?_1386+?del
|
|
|
NM_000251.2(MSH2):c.646-?_792+?del
|
|
|
NM_000251.2(MSH2):c.646-?_942+?del
|
|
|
NM_000251.2(MSH2):c.793-?_1276+?del484
|
|
|
NM_000251.2(MSH2):c.793-?_1276+?dup
|
|
|
NM_000251.2(MSH2):c.793-?_1386+?deldel594
|
|
|
NM_000251.2(MSH2):c.793-?_942+?del
|
|
|
NM_000251.2(MSH2):c.943-?_1076+?del
|
|
|
NM_000251.2(MSH2):c.970_971ins4
|
|
|
NM_000251.3(MSH2):c.(1276+1_1277-1)_(1661+1_1662-1)del
|
|
|
NM_000251.3(MSH2):c.(1276+1_1277-1)_(2634+1_2635-1)del
|
|
|
NM_000251.3(MSH2):c.(211+1_212-1)_(1076+1_1077-1)del (p.Gly71Aspfs*2)
|
|
|
NM_000251.3(MSH2):c.(792+1_793-1)_(1076+1_1077-1)del (p.Val265Ilefs*29)
|
|
|
NM_000251.3(MSH2):c.*47G>A
|
rs1196239075
|
|
NM_000251.3(MSH2):c.*52A>T
|
rs886056138
|
|
NM_000251.3(MSH2):c.*64T>C
|
rs1278729941
|
|
NM_000251.3(MSH2):c.*7C>G
|
rs886056137
|
|
NM_000251.3(MSH2):c.-12G>A
|
rs1558450937
|
|
NM_000251.3(MSH2):c.-21A>T
|
rs776559145
|
|
NM_000251.3(MSH2):c.1000A>T (p.Lys334Ter)
|
rs587779063
|
|
NM_000251.3(MSH2):c.1003del (p.Thr335fs)
|
rs1673074932
|
|
NM_000251.3(MSH2):c.1003dup (p.Thr335fs)
|
|
|
NM_000251.3(MSH2):c.1006C>T (p.Pro336Ser)
|
rs63751062
|
|
NM_000251.3(MSH2):c.1007_1010dup (p.Gln337fs)
|
|
|
NM_000251.3(MSH2):c.1007del (p.Pro336fs)
|
rs587779064
|
|
NM_000251.3(MSH2):c.1007dup (p.Gln337fs)
|
rs587779064
|
|
NM_000251.3(MSH2):c.1008del (p.Gln337fs)
|
rs879253899
|
|
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter)
|
rs63750778
|
|
NM_000251.3(MSH2):c.1012G>A (p.Gly338Arg)
|
rs63751004
|
|
NM_000251.3(MSH2):c.1012G>C (p.Gly338Arg)
|
rs63751004
|
|
NM_000251.3(MSH2):c.1012G>T (p.Gly338Ter)
|
|
|
NM_000251.3(MSH2):c.1013G>A (p.Gly338Glu)
|
rs587779065
|
|
NM_000251.3(MSH2):c.1013G>C (p.Gly338Ala)
|
rs587779065
|
|
NM_000251.3(MSH2):c.1013G>T (p.Gly338Val)
|
rs587779065
|
|
NM_000251.3(MSH2):c.1015C>T (p.Gln339Ter)
|
rs1558466577
|
|
NM_000251.3(MSH2):c.1017_1018del (p.Arg340fs)
|
rs63750703
|
|
NM_000251.3(MSH2):c.1018A>T (p.Arg340Ter)
|
|
|
NM_000251.3(MSH2):c.1018dup (p.Arg340fs)
|
rs63750703
|
|
NM_000251.3(MSH2):c.1019G>C (p.Arg340Thr)
|
rs1673077413
|
|
NM_000251.3(MSH2):c.1022T>C (p.Leu341Pro)
|
rs63751147
|
|
NM_000251.3(MSH2):c.1023del (p.Val342fs)
|
rs864622340
|
|
NM_000251.3(MSH2):c.102dup (p.Arg35fs)
|
rs1672241024
|
|
NM_000251.3(MSH2):c.1030C>A (p.Gln344Lys)
|
rs63750245
|
|
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)
|
rs63750245
|
|
NM_000251.3(MSH2):c.1030del (p.Gln344fs)
|
|
|
NM_000251.3(MSH2):c.1031A>C (p.Gln344Pro)
|
rs1673078633
|
|
NM_000251.3(MSH2):c.1033T>G (p.Trp345Gly)
|
rs1558466616
|
|
NM_000251.3(MSH2):c.1034G>A (p.Trp345Ter)
|
rs63751027
|
|
NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter)
|
rs63750396
|
|
NM_000251.3(MSH2):c.1036_1037dup (p.Lys347fs)
|
|
|
NM_000251.3(MSH2):c.1037_1038dup (p.Lys347fs)
|
rs63751483
|
|
NM_000251.3(MSH2):c.1042C>T (p.Gln348Ter)
|
rs979212552
|
|
NM_000251.3(MSH2):c.1042del (p.Gln348fs)
|
rs1553353233
|
|
NM_000251.3(MSH2):c.1043A>G (p.Gln348Arg)
|
rs773177076
|
|
NM_000251.3(MSH2):c.1044G>C (p.Gln348His)
|
|
|
NM_000251.3(MSH2):c.1045C>A (p.Pro349Thr)
|
rs267607939
|
|
NM_000251.3(MSH2):c.1045C>T (p.Pro349Ser)
|
rs267607939
|
|
NM_000251.3(MSH2):c.1046C>G (p.Pro349Arg)
|
rs587779067
|
|
NM_000251.3(MSH2):c.1046C>T (p.Pro349Leu)
|
rs587779067
|
|
NM_000251.3(MSH2):c.1046_1047delinsGC (p.Pro349Arg)
|
rs1558466685
|
|
NM_000251.3(MSH2):c.1049_1050del (p.Leu350fs)
|
|
|
NM_000251.3(MSH2):c.1051dup (p.Met351fs)
|
|
|
NM_000251.3(MSH2):c.1056_1057insCCAT (p.Lys353delinsProTer)
|
|
|
NM_000251.3(MSH2):c.1058del (p.Lys353fs)
|
rs1573456772
|
|
NM_000251.3(MSH2):c.1059del (p.Asn354fs)
|
rs587779068
|
|
NM_000251.3(MSH2):c.1061A>G (p.Asn354Ser)
|
rs2104252754
|
|
NM_000251.3(MSH2):c.1067T>A (p.Ile356Lys)
|
rs753075410
|
|
NM_000251.3(MSH2):c.1069G>C (p.Glu357Gln)
|
rs587779069
|
|
NM_000251.3(MSH2):c.1071G>A (p.Glu357=)
|
rs587781617
|
|
NM_000251.3(MSH2):c.1071_1072dup (p.Glu358fs)
|
rs1558466769
|
|
NM_000251.3(MSH2):c.1072dup (p.Glu358fs)
|
rs1558466769
|
|
NM_000251.3(MSH2):c.1074G>C (p.Glu358Asp)
|
rs1477257356
|
|
NM_000251.3(MSH2):c.1075A>G (p.Arg359Gly)
|
|
|
NM_000251.3(MSH2):c.1075A>T (p.Arg359Ter)
|
rs587779070
|
|
NM_000251.3(MSH2):c.1076+1G>A
|
rs267607940
|
|
NM_000251.3(MSH2):c.1076+1G>T
|
rs267607940
|
|
NM_000251.3(MSH2):c.1076+1del
|
|
|
NM_000251.3(MSH2):c.1076+1dup
|
rs1673083690
|
|
NM_000251.3(MSH2):c.1076+23C>G
|
rs377417056
|
|
NM_000251.3(MSH2):c.1076+2T>A
|
|
|
NM_000251.3(MSH2):c.1076+2T>G
|
|
|
NM_000251.3(MSH2):c.1076+4T>A
|
rs764606343
|
|
NM_000251.3(MSH2):c.1076+8A>T
|
rs1673084214
|
|
NM_000251.3(MSH2):c.1076G>C (p.Arg359Thr)
|
rs63751604
|
|
NM_000251.3(MSH2):c.1076G>T (p.Arg359Ile)
|
rs63751604
|
|
NM_000251.3(MSH2):c.1076_1077dup (p.Leu360fs)
|
rs1114167858
|
|
NM_000251.3(MSH2):c.1077-135_1276+119dup
|
rs1553356484
|
|
NM_000251.3(MSH2):c.1077-1865_1276+742del
|
|
|
NM_000251.3(MSH2):c.1077-1G>C
|
rs267607944
|
|
NM_000251.3(MSH2):c.1077-1G>T
|
rs267607944
|
|
NM_000251.3(MSH2):c.1077-220_1276+6245del
|
|
|
NM_000251.3(MSH2):c.1077-2A>C
|
rs267607943
|
|
NM_000251.3(MSH2):c.1077-2A>G
|
rs267607943
|
|
NM_000251.3(MSH2):c.1077-2A>T
|
rs267607943
|
|
NM_000251.3(MSH2):c.1077A>T (p.Arg359Ser)
|
rs63751617
|
|
NM_000251.3(MSH2):c.1077_1276del
|
rs1553356518
|
|
NM_000251.3(MSH2):c.108T>C (p.Leu36=)
|
rs876659034
|
|
NM_000251.3(MSH2):c.1090G>T (p.Glu364Ter)
|
rs1558478136
|
|
NM_000251.3(MSH2):c.1097_1098insA (p.Phe366fs)
|
rs267607693
|
|
NM_000251.3(MSH2):c.1098_1099insTC (p.Val367fs)
|
|
|
NM_000251.3(MSH2):c.1098del (p.Phe366fs)
|
|
|
NM_000251.3(MSH2):c.1099del (p.Phe366_Val367insTer)
|
rs587779073
|
|
NM_000251.3(MSH2):c.10C>T (p.Gln4Ter)
|
rs878853797
|
|
NM_000251.3(MSH2):c.1108del (p.Ala370fs)
|
rs63749814
|
|
NM_000251.3(MSH2):c.110del (p.Phe37fs)
|
rs63751056
|
|
NM_000251.3(MSH2):c.1115T>A (p.Leu372Ter)
|
|
|
NM_000251.3(MSH2):c.1115del (p.Glu371_Leu372insTer)
|
|
|
NM_000251.3(MSH2):c.1119del (p.Arg373fs)
|
rs63750516
|
|
NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter)
|
rs63750558
|
|
NM_000251.3(MSH2):c.1124C>G (p.Thr375Ser)
|
rs774539871
|
|
NM_000251.3(MSH2):c.1125_1126insAT (p.Leu376fs)
|
rs786203350
|
|
NM_000251.3(MSH2):c.1126_1127del (p.Leu376fs)
|
|
|
NM_000251.3(MSH2):c.1127T>G (p.Leu376Ter)
|
|
|
NM_000251.3(MSH2):c.1127_1128dup (p.Gln377fs)
|
rs63751219
|
|
NM_000251.3(MSH2):c.1127del (p.Leu376fs)
|
|
|
NM_000251.3(MSH2):c.1129C>T (p.Gln377Ter)
|
rs63750267
|
|
NM_000251.3(MSH2):c.1138_1153dup (p.Pro385fs)
|
|
|
NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter)
|
rs730881755
|
|
NM_000251.3(MSH2):c.1139del (p.Leu380fs)
|
rs63750039
|
|
NM_000251.3(MSH2):c.1140_1141del (p.Leu380fs)
|
|
|
NM_000251.3(MSH2):c.1144dup (p.Arg382fs)
|
rs63750496
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.114C>A (p.Asp38Glu)
|
rs587779074
|
|
NM_000251.3(MSH2):c.1157dup (p.Asp386fs)
|
rs730881774
|
|
NM_000251.3(MSH2):c.115_123del (p.Arg39_Asp41del)
|
rs863224831
|
|
NM_000251.3(MSH2):c.1163dup (p.Asn388fs)
|
rs2104439295
|
|
NM_000251.3(MSH2):c.1164_1165delinsGT (p.Asn388_Arg389delinsLysTer)
|
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
NM_000251.3(MSH2):c.1177A>T (p.Lys393Ter)
|
rs863225386
|
|
NM_000251.3(MSH2):c.1182del (p.Gln395fs)
|
|
|
NM_000251.3(MSH2):c.1183C>T (p.Gln395Ter)
|
rs63750302
|
|
NM_000251.3(MSH2):c.1183_1184insCAGTTTC (p.Gln395fs)
|
|
|
NM_000251.3(MSH2):c.1186del (p.Arg396fs)
|
|
|
NM_000251.3(MSH2):c.1189C>T (p.Gln397Ter)
|
rs63750611
|
|
NM_000251.3(MSH2):c.1191A>T (p.Gln397His)
|
rs768694189
|
|
NM_000251.3(MSH2):c.1192G>A (p.Ala398Thr)
|
rs988252817
|
|
NM_000251.3(MSH2):c.1192dup (p.Ala398fs)
|
rs63751169
|
|
NM_000251.3(MSH2):c.1193C>T (p.Ala398Val)
|
rs1060502019
|
|
NM_000251.3(MSH2):c.1195del (p.Ala399fs)
|
|
|
NM_000251.3(MSH2):c.1196_1197dup (p.Asn400fs)
|
rs63749850
|
|
NM_000251.3(MSH2):c.119del (p.Gly40fs)
|
rs63750984
|
|
NM_000251.3(MSH2):c.11A>C (p.Gln4Pro)
|
rs754562075
|
|
NM_000251.3(MSH2):c.11_12delinsC (p.Gln4fs)
|
rs1558451119
|
|
NM_000251.3(MSH2):c.11dup (p.Pro5fs)
|
rs730881775
|
|
NM_000251.3(MSH2):c.1201_1202dup (p.Leu401fs)
|
rs869312768
|
|
NM_000251.3(MSH2):c.1201_1204del (p.Leu401fs)
|
rs1558478567
|
|
NM_000251.3(MSH2):c.1202dup (p.Leu401fs)
|
|
|
NM_000251.3(MSH2):c.1203_1204insTAA (p.Gln402Ter)
|
|
|
NM_000251.3(MSH2):c.1203dup (p.Gln402fs)
|
rs63750586
|
|
NM_000251.3(MSH2):c.1204C>T (p.Gln402Ter)
|
rs63751412
|
|
NM_000251.3(MSH2):c.1204del (p.Gln402fs)
|
rs63751413
|
|
NM_000251.3(MSH2):c.1208A>G (p.Asp403Gly)
|
|
|
NM_000251.3(MSH2):c.1215C>A (p.Tyr405Ter)
|
rs63751271
|
|
NM_000251.3(MSH2):c.1215C>G (p.Tyr405Ter)
|
rs63751271
|
|
NM_000251.3(MSH2):c.1216C>G (p.Arg406Gly)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1216_1219dup (p.Leu407fs)
|
rs63751192
|
|
NM_000251.3(MSH2):c.1221_1222del (p.Tyr408fs)
|
rs587779076
|
|
NM_000251.3(MSH2):c.1221dup (p.Tyr408fs)
|
|
|
NM_000251.3(MSH2):c.1222dup (p.Tyr408fs)
|
rs63751142
|
|
NM_000251.3(MSH2):c.1223A>T (p.Tyr408Phe)
|
rs63750379
|
|
NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter)
|
rs63750132
|
|
NM_000251.3(MSH2):c.1225C>G (p.Gln409Glu)
|
rs151244108
|
|
NM_000251.3(MSH2):c.1225C>T (p.Gln409Ter)
|
rs151244108
|
|
NM_000251.3(MSH2):c.1226A>G (p.Gln409Arg)
|
|
|
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)
|
rs63750086
|
|
NM_000251.3(MSH2):c.1228_1240delinsTACAA (p.Gly410fs)
|
|
|
NM_000251.3(MSH2):c.1229del (p.Gly410fs)
|
rs1553356700
|
|
NM_000251.3(MSH2):c.122_140dup (p.Glu48fs)
|
|
|
NM_000251.3(MSH2):c.1230_1231insTT (p.Ile411fs)
|
|
|
NM_000251.3(MSH2):c.1237C>G (p.Gln413Glu)
|
rs863225387
|
|
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter)
|
rs863225387
|
|
NM_000251.3(MSH2):c.1237del (p.Gln413fs)
|
|
|
NM_000251.3(MSH2):c.1242_1248dup (p.Val417delinsThrTer)
|
|
|
NM_000251.3(MSH2):c.1243_1246del (p.Pro415fs)
|
rs63751206
|
|
NM_000251.3(MSH2):c.1246_1247delinsT (p.Asn416fs)
|
|
|
NM_000251.3(MSH2):c.1247_1257dup (p.Ala420fs)
|
rs1553356720
|
|
NM_000251.3(MSH2):c.1248_1253delinsATCA (p.Asn416fs)
|
|
|
NM_000251.3(MSH2):c.1249_1253del (p.Val417fs)
|
rs587779079
|
|
NM_000251.3(MSH2):c.1249del (p.Val417fs)
|
rs63751059
|
|
NM_000251.3(MSH2):c.124_127dup (p.Tyr43fs)
|
rs587782561
|
|
NM_000251.3(MSH2):c.1251T>C (p.Val417=)
|
rs1553356731
|
|
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs)
|
rs863225388
|
|
NM_000251.3(MSH2):c.1255C>T (p.Gln419Ter)
|
rs63750006
|
|
NM_000251.3(MSH2):c.1258_1259del (p.Ala420fs)
|
|
|
NM_000251.3(MSH2):c.125_126delinsAA (p.Phe42Ter)
|
|
|
NM_000251.3(MSH2):c.1264G>A (p.Glu422Lys)
|
rs63751712
|
|
NM_000251.3(MSH2):c.1264G>T (p.Glu422Ter)
|
rs63751712
|
|
NM_000251.3(MSH2):c.1269_1270insG (p.His424fs)
|
|
|
NM_000251.3(MSH2):c.1269dup (p.His424fs)
|
rs63751667
|
|
NM_000251.3(MSH2):c.1270del (p.His424fs)
|
rs2104444013
|
|
NM_000251.3(MSH2):c.1271A>G (p.His424Arg)
|
rs200429136
|
|
NM_000251.3(MSH2):c.1271dup (p.His424fs)
|
rs587783055
|
|
NM_000251.3(MSH2):c.1272_1276+6del
|
|
|
NM_000251.3(MSH2):c.1276+10G>A
|
rs374061707
|
|
NM_000251.3(MSH2):c.1276+1G>A
|
rs267607950
|
|
NM_000251.3(MSH2):c.1276+1G>C
|
rs267607950
|
|
NM_000251.3(MSH2):c.1276+1G>T
|
rs267607950
|
|
NM_000251.3(MSH2):c.1276+2T>A
|
rs267607953
|
|
NM_000251.3(MSH2):c.1276+2T>C
|
rs267607953
|
|
NM_000251.3(MSH2):c.1276G>A (p.Gly426Arg)
|
rs879254234
|
|
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg)
|
rs879254234
|
|
NM_000251.3(MSH2):c.1276G>T (p.Gly426Ter)
|
|
|
NM_000251.3(MSH2):c.1277-1180_1386+2226delinsCATTCTCTTTGAAAA
|
|
|
NM_000251.3(MSH2):c.1277-118G>A
|
rs1981929
|
|
NM_000251.3(MSH2):c.1277-14C>G
|
rs267607951
|
|
NM_000251.3(MSH2):c.1277-1G>A
|
rs267607948
|
|
NM_000251.3(MSH2):c.1277-1G>C
|
rs267607948
|
|
NM_000251.3(MSH2):c.1277-1G>T
|
rs267607948
|
|
NM_000251.3(MSH2):c.1277-2A>C
|
rs267607949
|
|
NM_000251.3(MSH2):c.1277-2A>G
|
rs267607949
|
|
NM_000251.3(MSH2):c.1277-2A>T
|
rs267607949
|
|
NM_000251.3(MSH2):c.1277-2_1386+1del
|
rs2103751857
|
|
NM_000251.3(MSH2):c.1277-4076_1386+1819del
|
|
|
NM_000251.3(MSH2):c.1277-571_1386+2327del
|
|
|
NM_000251.3(MSH2):c.1277-945A>C
|
rs7607312
|
|
NM_000251.3(MSH2):c.1278_1386+1del
|
rs1553361141
|
|
NM_000251.3(MSH2):c.1279A>T (p.Lys427Ter)
|
|
|
NM_000251.3(MSH2):c.1281dup (p.His428fs)
|
|
|
NM_000251.3(MSH2):c.1283_1284del (p.His428fs)
|
rs2103752184
|
|
NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter)
|
rs63751693
|
|
NM_000251.3(MSH2):c.1285del (p.Gln429fs)
|
rs1114167833
|
|
NM_000251.3(MSH2):c.1286A>C (p.Gln429Pro)
|
rs1558493372
|
|
NM_000251.3(MSH2):c.1287_1293del (p.Gln429fs)
|
|
|
NM_000251.3(MSH2):c.1287dup (p.Lys430fs)
|
rs63751626
|
|
NM_000251.3(MSH2):c.1288A>T (p.Lys430Ter)
|
rs63751646
|
|
NM_000251.3(MSH2):c.1292T>A (p.Leu431Ter)
|
rs63751315
|
|
NM_000251.3(MSH2):c.1293dup (p.Leu432fs)
|
rs1553361162
|
|
NM_000251.3(MSH2):c.129T>G (p.Tyr43Ter)
|
rs63750894
|
|
NM_000251.3(MSH2):c.12G>T (p.Gln4His)
|
rs878853800
|
|
NM_000251.3(MSH2):c.1301del (p.Ala434fs)
|
|
|
NM_000251.3(MSH2):c.1302del (p.Val435fs)
|
rs863225389
|
|
NM_000251.3(MSH2):c.1303G>C (p.Val435Leu)
|
rs876658240
|
|
NM_000251.3(MSH2):c.1303G>T (p.Val435Phe)
|
rs876658240
|
|
NM_000251.3(MSH2):c.1307T>C (p.Phe436Ser)
|
rs1573519324
|
|
NM_000251.3(MSH2):c.1308del (p.Phe436fs)
|
|
|
NM_000251.3(MSH2):c.1308dup (p.Val437fs)
|
rs1060502035
|
|
NM_000251.3(MSH2):c.1309G>A (p.Val437Met)
|
rs773956144
|
|
NM_000251.3(MSH2):c.1311_1312dup (p.Thr438fs)
|
|
|
NM_000251.3(MSH2):c.1313C>T (p.Thr438Ile)
|
rs1553361185
|
|
NM_000251.3(MSH2):c.1313CTC[1] (p.Pro439del)
|
rs587779082
|
|
NM_000251.3(MSH2):c.1318_1319del (p.Leu440fs)
|
rs587779083
|
|
NM_000251.3(MSH2):c.1319T>C (p.Leu440Pro)
|
rs587779084
|
|
NM_000251.3(MSH2):c.1319T>G (p.Leu440Arg)
|
rs587779084
|
|
NM_000251.3(MSH2):c.1321A>T (p.Thr441Ser)
|
rs587779086
|
|
NM_000251.3(MSH2):c.1321del (p.Thr441fs)
|
rs1675069387
|
|
NM_000251.3(MSH2):c.1321dup (p.Thr441fs)
|
rs63750807
|
|
NM_000251.3(MSH2):c.1323dup (p.Asp442Ter)
|
|
|
NM_000251.3(MSH2):c.1326_1333del (p.Asp442_Leu443insTer)
|
|
|
NM_000251.3(MSH2):c.1327C>A (p.Leu443Ile)
|
rs876659906
|
|
NM_000251.3(MSH2):c.1331G>A (p.Arg444His)
|
rs557339938
|
|
NM_000251.3(MSH2):c.1331_1334del (p.Arg444fs)
|
|
|
NM_000251.3(MSH2):c.1332_1333dup (p.Ser445fs)
|
|
|
NM_000251.3(MSH2):c.1339_1340del (p.Phe447fs)
|
rs1553361231
|
|
NM_000251.3(MSH2):c.1340_1341insGG (p.Phe447fs)
|
rs267607696
|
|
NM_000251.3(MSH2):c.1343C>G (p.Ser448Cys)
|
rs587782524
|
|
NM_000251.3(MSH2):c.1344del (p.Lys449fs)
|
rs876658918
|
|
NM_000251.3(MSH2):c.1345A>T (p.Lys449Ter)
|
rs63749920
|
|
NM_000251.3(MSH2):c.1345_1348del (p.Lys449fs)
|
rs267607955
|
|
NM_000251.3(MSH2):c.1351C>T (p.Gln451Ter)
|
rs786201066
|
|
NM_000251.3(MSH2):c.1352_1353del (p.Gln451fs)
|
rs63750957
|
|
NM_000251.3(MSH2):c.1354G>A (p.Glu452Lys)
|
rs267607954
|
|
NM_000251.3(MSH2):c.1354G>T (p.Glu452Ter)
|
rs267607954
|
|
NM_000251.3(MSH2):c.1354_1355insT (p.Glu452fs)
|
rs1114167850
|
|
NM_000251.3(MSH2):c.1354dup (p.Glu452fs)
|
|
|
NM_000251.3(MSH2):c.1357A>C (p.Met453Leu)
|
rs1558493602
|
|
NM_000251.3(MSH2):c.1357del (p.Glu452_Met453insTer)
|
|
|
NM_000251.3(MSH2):c.1358T>A (p.Met453Lys)
|
rs63750697
|
|
NM_000251.3(MSH2):c.135del (p.His46fs)
|
|
|
NM_000251.3(MSH2):c.1361T>G (p.Ile454Arg)
|
rs1060502025
|
|
NM_000251.3(MSH2):c.1363G>T (p.Glu455Ter)
|
|
|
NM_000251.3(MSH2):c.1363del (p.Glu455fs)
|
|
|
NM_000251.3(MSH2):c.1366del (p.Thr456fs)
|
|
|
NM_000251.3(MSH2):c.1367del (p.Thr456fs)
|
|
|
NM_000251.3(MSH2):c.1368_1369del (p.Thr457fs)
|
|
|
NM_000251.3(MSH2):c.1369A>C (p.Thr457Pro)
|
|
|
NM_000251.3(MSH2):c.136C>T (p.His46Tyr)
|
rs1553348821
|
|
NM_000251.3(MSH2):c.136_164del (p.His46fs)
|
rs63751482
|
|
NM_000251.3(MSH2):c.1373T>G (p.Leu458Ter)
|
rs63750521
|
|
NM_000251.3(MSH2):c.1373del (p.Thr457_Leu458insTer)
|
rs1553361289
|
|
NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter)
|
rs876657701
|
|
NM_000251.3(MSH2):c.1384dup (p.Gln462fs)
|
rs2103760063
|
|
NM_000251.3(MSH2):c.1386+1G>A
|
rs267607957
|
|
NM_000251.3(MSH2):c.1386+1G>C
|
rs267607957
|
|
NM_000251.3(MSH2):c.1386+1G>T
|
rs267607957
|
|
NM_000251.3(MSH2):c.1386+2T>C
|
rs1675076969
|
|
NM_000251.3(MSH2):c.1386+2T>G
|
|
|
NM_000251.3(MSH2):c.1387-1G>T
|
rs267607956
|
|
NM_000251.3(MSH2):c.1387-2A>T
|
|
|
NM_000251.3(MSH2):c.1387-9T>A
|
rs587779087
|
|
NM_000251.3(MSH2):c.1387-9T>C
|
rs587779087
|
|
NM_000251.3(MSH2):c.1389G>T (p.Val463=)
|
rs1553365702
|
|
NM_000251.3(MSH2):c.1390G>T (p.Glu464Ter)
|
rs876658223
|
|
NM_000251.3(MSH2):c.1390del (p.Glu464fs)
|
rs587779088
|
|
NM_000251.3(MSH2):c.1393_1420del (p.Asn465fs)
|
rs2104082965
|
|
NM_000251.3(MSH2):c.1394A>G (p.Asn465Ser)
|
rs1487094949
|
|
NM_000251.3(MSH2):c.1394del (p.Asn465fs)
|
rs863225390
|
|
NM_000251.3(MSH2):c.1396C>G (p.His466Asp)
|
|
|
NM_000251.3(MSH2):c.1396del (p.His466fs)
|
rs1558508067
|
|
NM_000251.3(MSH2):c.1399G>T (p.Glu467Ter)
|
rs587779089
|
|
NM_000251.3(MSH2):c.1401del (p.Glu467fs)
|
rs1553365711
|
|
NM_000251.3(MSH2):c.1404_1410del (p.Phe468fs)
|
rs878853802
|
|
NM_000251.3(MSH2):c.1405del (p.Leu469_Val470insTer)
|
rs1060502027
|
|
NM_000251.3(MSH2):c.1405dup (p.Leu469fs)
|
|
|
NM_000251.3(MSH2):c.1408del (p.Leu469_Val470insTer)
|
rs63750384
|
|
NM_000251.3(MSH2):c.1413del (p.Lys471fs)
|
rs1553365719
|
|
NM_000251.3(MSH2):c.1415dup (p.Ser473fs)
|
rs1573547745
|
|
NM_000251.3(MSH2):c.1418C>G (p.Ser473Ter)
|
rs63751403
|
|
NM_000251.3(MSH2):c.141_154del (p.Glu48fs)
|
rs863224481
|
|
NM_000251.3(MSH2):c.1424dup (p.Asp475fs)
|
|
|
NM_000251.3(MSH2):c.1427C>G (p.Pro476Arg)
|
|
|
NM_000251.3(MSH2):c.1428del (p.Asn477fs)
|
rs2104086603
|
|
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)
|
rs63750615
|
|
NM_000251.3(MSH2):c.1433T>G (p.Leu478Arg)
|
|
|
NM_000251.3(MSH2):c.1433_1434dup (p.Glu480fs)
|
rs587779091
|
|
NM_000251.3(MSH2):c.1433del (p.Leu478fs)
|
|
|
NM_000251.3(MSH2):c.1440dup (p.Leu481fs)
|
rs1666728055
|
|
NM_000251.3(MSH2):c.1442T>A (p.Leu481Ter)
|
rs786203036
|
|
NM_000251.3(MSH2):c.1444A>T (p.Arg482Ter)
|
rs587779092
|
|
NM_000251.3(MSH2):c.1444del (p.Arg482fs)
|
rs63750068
|
|
NM_000251.3(MSH2):c.1444dup (p.Arg482fs)
|
rs63750068
|
|
NM_000251.3(MSH2):c.1445_1449del (p.Arg482fs)
|
rs267607961
|
|
NM_000251.3(MSH2):c.1447G>T (p.Glu483Ter)
|
rs63749947
|
|
NM_000251.3(MSH2):c.1447_1448del (p.Glu483fs)
|
rs63750161
|
|
NM_000251.3(MSH2):c.1453A>C (p.Met485Leu)
|
rs775377647
|
|
NM_000251.3(MSH2):c.1454T>C (p.Met485Thr)
|
rs1553365763
|
|
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs)
|
rs1114167806
|
|
NM_000251.3(MSH2):c.1457_1460dup (p.Asp487delinsGluTer)
|
rs1114167806
|
|
NM_000251.3(MSH2):c.1457del (p.Asn486fs)
|
rs63750986
|
|
NM_000251.3(MSH2):c.145_146del (p.Asp49fs)
|
rs63750334
|
|
NM_000251.3(MSH2):c.145del (p.Asp49fs)
|
rs63750644
|
|
NM_000251.3(MSH2):c.1462_1463del (p.Leu488fs)
|
rs876658834
|
|
NM_000251.3(MSH2):c.1465G>A (p.Glu489Lys)
|
rs876658187
|
|
NM_000251.3(MSH2):c.1465G>T (p.Glu489Ter)
|
rs876658187
|
|
NM_000251.3(MSH2):c.1470_1473delinsAAA (p.Met492fs)
|
rs1060502029
|
|
NM_000251.3(MSH2):c.1476G>A (p.Met492Ile)
|
rs1553365792
|
|
NM_000251.3(MSH2):c.1476_1477delinsCT (p.Met492_Gln493delinsIleTer)
|
rs63750583
|
|
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter)
|
rs63750936
|
|
NM_000251.3(MSH2):c.1481C>G (p.Ser494Ter)
|
rs370970617
|
|
NM_000251.3(MSH2):c.1486_1487dup (p.Leu496fs)
|
rs1573548065
|
|
NM_000251.3(MSH2):c.1487T>A (p.Leu496Ter)
|
rs587779093
|
|
NM_000251.3(MSH2):c.1487T>C (p.Leu496Ser)
|
rs587779093
|
|
NM_000251.3(MSH2):c.1487del (p.Thr495_Leu496insTer)
|
rs1573548065
|
|
NM_000251.3(MSH2):c.1487dup (p.Leu496fs)
|
|
|
NM_000251.3(MSH2):c.1491_1492insTT (p.Ser498fs)
|
rs1558508343
|
|
NM_000251.3(MSH2):c.1494dup (p.Ala499fs)
|
rs63750362
|
|
NM_000251.3(MSH2):c.1497del (p.Ala500fs)
|
rs63749963
|
|
NM_000251.3(MSH2):c.149C>G (p.Ala50Gly)
|
rs876658582
|
|
NM_000251.3(MSH2):c.149C>T (p.Ala50Val)
|
rs876658582
|
|
NM_000251.3(MSH2):c.14C>T (p.Pro5Leu)
|
rs56170584
|
|
NM_000251.3(MSH2):c.1500dup (p.Arg501fs)
|
rs587779094
|
|
NM_000251.3(MSH2):c.1508T>C (p.Leu503Pro)
|
rs587779095
|
|
NM_000251.3(MSH2):c.1510+1G>A
|
rs1114167852
|
|
NM_000251.3(MSH2):c.1510+1G>C
|
|
|
NM_000251.3(MSH2):c.1510+1G>T
|
|
|
NM_000251.3(MSH2):c.1510+2T>A
|
|
|
NM_000251.3(MSH2):c.1510+2T>C
|
rs1060502023
|
|
NM_000251.3(MSH2):c.1510+2_1510+50del
|
rs1558508399
|
|
NM_000251.3(MSH2):c.1510G>C (p.Gly504Arg)
|
rs63751600
|
|
NM_000251.3(MSH2):c.1510G>T (p.Gly504Cys)
|
rs63751600
|
|
NM_000251.3(MSH2):c.1511-13_1511-9delinsGT
|
rs1558510749
|
|
NM_000251.3(MSH2):c.1511-1G>A
|
rs267607964
|
|
NM_000251.3(MSH2):c.1511-1G>T
|
rs267607964
|
|
NM_000251.3(MSH2):c.1511-2A>C
|
rs267607962
|
|
NM_000251.3(MSH2):c.1511-2A>G
|
rs267607962
|
|
NM_000251.3(MSH2):c.1511del (p.Gly504Alafs)
|
rs2104170912
|
|
NM_000251.3(MSH2):c.1514dup (p.Leu505fs)
|
|
|
NM_000251.3(MSH2):c.1520del (p.Pro507fs)
|
rs1553366510
|
|
NM_000251.3(MSH2):c.1527dup (p.Gln510fs)
|
|
|
NM_000251.3(MSH2):c.1528C>T (p.Gln510Ter)
|
rs587779097
|
|
NM_000251.3(MSH2):c.1530G>T (p.Gln510His)
|
rs587782355
|
|
NM_000251.3(MSH2):c.1533T>G (p.Ile511Met)
|
rs1553366529
|
|
NM_000251.3(MSH2):c.1534A>T (p.Lys512Ter)
|
rs1573553178
|
|
NM_000251.3(MSH2):c.1534_1535delinsG (p.Lys512fs)
|
|
|
NM_000251.3(MSH2):c.1536del (p.Lys512fs)
|
|
|
NM_000251.3(MSH2):c.1547G>A (p.Ser516Asn)
|
rs373564353
|
|
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile)
|
rs373564353
|
|
NM_000251.3(MSH2):c.154_155insG (p.Leu52fs)
|
rs63750352
|
|
NM_000251.3(MSH2):c.1552C>T (p.Gln518Ter)
|
rs63750780
|
|
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs)
|
rs63749930
|
|
NM_000251.3(MSH2):c.1553A>T (p.Gln518Leu)
|
|
|
NM_000251.3(MSH2):c.1557_1567delinsACACAG (p.Phe519fs)
|
|
|
NM_000251.3(MSH2):c.1562A>G (p.Tyr521Cys)
|
rs879254040
|
|
NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter)
|
rs63750330
|
|
NM_000251.3(MSH2):c.1565_1568del (p.Tyr522fs)
|
rs1064793561
|
|
NM_000251.3(MSH2):c.1566C>A (p.Tyr522Ter)
|
rs63750224
|
|
NM_000251.3(MSH2):c.1566C>G (p.Tyr522Ter)
|
rs63750224
|
|
NM_000251.3(MSH2):c.1566del (p.Arg524fs)
|
|
|
NM_000251.3(MSH2):c.1568T>C (p.Phe523Ser)
|
rs587782587
|
|
NM_000251.3(MSH2):c.1570del (p.Arg524fs)
|
rs1064795653
|
|
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)
|
rs63751207
|
|
NM_000251.3(MSH2):c.1576del (p.Thr526fs)
|
rs63750094
|
|
NM_000251.3(MSH2):c.1576dup (p.Thr526fs)
|
rs63750094
|
|
NM_000251.3(MSH2):c.1577C>A (p.Thr526Asn)
|
rs1204369578
|
|
NM_000251.3(MSH2):c.1578del (p.Cys527fs)
|
rs63750738
|
|
NM_000251.3(MSH2):c.1587_1597delinsT (p.Glu529fs)
|
rs1114167820
|
|
NM_000251.3(MSH2):c.1587del (p.Glu530fs)
|
rs63750845
|
|
NM_000251.3(MSH2):c.158C>T (p.Ala53Val)
|
|
|
NM_000251.3(MSH2):c.158_159dup (p.Ala54fs)
|
|
|
NM_000251.3(MSH2):c.1593del (p.Val532fs)
|
rs1558511051
|
|
NM_000251.3(MSH2):c.1594dup (p.Val532fs)
|
rs63750104
|
|
NM_000251.3(MSH2):c.1595T>C (p.Val532Ala)
|
rs754778750
|
|
NM_000251.3(MSH2):c.1597dup (p.Leu533fs)
|
|
|
NM_000251.3(MSH2):c.1600del (p.Arg534fs)
|
|
|
NM_000251.3(MSH2):c.1601G>T (p.Arg534Leu)
|
rs587778523
|
|
NM_000251.3(MSH2):c.1602T>A (p.Arg534=)
|
rs267607965
|
|
NM_000251.3(MSH2):c.1609A>T (p.Lys537Ter)
|
rs980244810
|
|
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)
|
rs749212640
|
|
NM_000251.3(MSH2):c.160del (p.Ala54fs)
|
rs876660480
|
|
NM_000251.3(MSH2):c.1613del (p.Asn538fs)
|
rs1558511092
|
|
NM_000251.3(MSH2):c.1613dup (p.Asn538fs)
|
|
|
NM_000251.3(MSH2):c.1615T>C (p.Phe539Leu)
|
rs1558511106
|
|
NM_000251.3(MSH2):c.1617T>A (p.Phe539Leu)
|
rs730881759
|
|
NM_000251.3(MSH2):c.1618A>G (p.Ser540Gly)
|
rs1268933712
|
|
NM_000251.3(MSH2):c.1618del (p.Ser540fs)
|
rs1573553636
|
|
NM_000251.3(MSH2):c.1619G>C (p.Ser540Thr)
|
rs1553366622
|
|
NM_000251.3(MSH2):c.161C>T (p.Ala54Val)
|
rs768661914
|
|
NM_000251.3(MSH2):c.1625T>C (p.Val542Ala)
|
rs1553366630
|
|
NM_000251.3(MSH2):c.1627del (p.Asp543fs)
|
rs63750675
|
|
NM_000251.3(MSH2):c.1631T>C (p.Ile544Thr)
|
rs587778524
|
|
NM_000251.3(MSH2):c.1633C>T (p.Gln545Ter)
|
rs1666904987
|
|
NM_000251.3(MSH2):c.1636A>G (p.Lys546Glu)
|
|
|
NM_000251.3(MSH2):c.1637dup (p.Asn547fs)
|
rs1553366642
|
|
NM_000251.3(MSH2):c.1638_1639dup (p.Asn547fs)
|
rs63750662
|
|
NM_000251.3(MSH2):c.163C>T (p.Arg55Trp)
|
rs587782354
|
|
NM_000251.3(MSH2):c.163del (p.Arg55fs)
|
rs63750337
|
|
NM_000251.3(MSH2):c.1642G>T (p.Gly548Cys)
|
rs63750538
|
|
NM_000251.3(MSH2):c.1643del (p.Gly548fs)
|
rs1666905944
|
|
NM_000251.3(MSH2):c.1645G>A (p.Val549Ile)
|
rs876659905
|
|
NM_000251.3(MSH2):c.1649_1650del (p.Lys550fs)
|
rs1114167835
|
|
NM_000251.3(MSH2):c.1654A>C (p.Thr552Pro)
|
rs63750838
|
|
NM_000251.3(MSH2):c.1656del (p.Asn553fs)
|
rs1114167817
|
|
NM_000251.3(MSH2):c.1659C>T (p.Asn553=)
|
rs869312796
|
|
NM_000251.3(MSH2):c.1659_1661+2delinsGAGGG
|
|
|
NM_000251.3(MSH2):c.1660A>C (p.Ser554Arg)
|
rs63751656
|
|
NM_000251.3(MSH2):c.1660A>G (p.Ser554Gly)
|
rs63751656
|
|
NM_000251.3(MSH2):c.1660A>T (p.Ser554Cys)
|
rs63751656
|
|
NM_000251.3(MSH2):c.1661+17T>G
|
rs377461923
|
|
NM_000251.3(MSH2):c.1661+1G>A
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661+1G>C
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661+1G>T
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661+1del
|
|
|
NM_000251.3(MSH2):c.1661+25del
|
rs1553366691
|
|
NM_000251.3(MSH2):c.1661+2T>C
|
rs1553366680
|
|
NM_000251.3(MSH2):c.1661+2T>G
|
|
|
NM_000251.3(MSH2):c.1661+5G>A
|
rs267607972
|
|
NM_000251.3(MSH2):c.1661+6C>T
|
rs267607973
|
|
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn)
|
rs63750597
|
|
NM_000251.3(MSH2):c.1661G>C (p.Ser554Thr)
|
rs63750597
|
|
NM_000251.3(MSH2):c.1662-18T>C
|
rs376235435
|
|
NM_000251.3(MSH2):c.1662-1G>A
|
rs267607970
|
|
NM_000251.3(MSH2):c.1662-2A>G
|
rs267607971
|
|
NM_000251.3(MSH2):c.1662-374_2458+467del
|
|
|
NM_000251.3(MSH2):c.1665del (p.Lys555fs)
|
rs63751120
|
|
NM_000251.3(MSH2):c.1667T>A (p.Leu556Ter)
|
rs587779101
|
|
NM_000251.3(MSH2):c.1667T>G (p.Leu556Trp)
|
rs587779101
|
|
NM_000251.3(MSH2):c.1667_1668insA (p.Thr557fs)
|
rs1553367587
|
|
NM_000251.3(MSH2):c.1667del (p.Lys555_Leu556insTer)
|
rs267607694
|
|
NM_000251.3(MSH2):c.166G>A (p.Glu56Lys)
|
rs587779102
|
|
NM_000251.3(MSH2):c.166G>C (p.Glu56Gln)
|
rs587779102
|
|
NM_000251.3(MSH2):c.166G>T (p.Glu56Ter)
|
rs587779102
|
|
NM_000251.3(MSH2):c.166del (p.Glu56fs)
|
rs63750087
|
|
NM_000251.3(MSH2):c.1670del (p.Thr557fs)
|
|
|
NM_000251.3(MSH2):c.1676T>G (p.Leu559Ter)
|
|
|
NM_000251.3(MSH2):c.1676del (p.Ser558_Leu559insTer)
|
rs63750633
|
|
NM_000251.3(MSH2):c.1679_1680insGA (p.Asn560fs)
|
|
|
NM_000251.3(MSH2):c.1679del (p.Asn560fs)
|
rs63750054
|
|
NM_000251.3(MSH2):c.1680dup (p.Glu561Ter)
|
rs2104274481
|
|
NM_000251.3(MSH2):c.1681G>T (p.Glu561Ter)
|
rs63750328
|
|
NM_000251.3(MSH2):c.1683del (p.Glu562fs)
|
rs63750406
|
|
NM_000251.3(MSH2):c.1684G>T (p.Glu562Ter)
|
rs1114167816
|
|
NM_000251.3(MSH2):c.1687dup (p.Tyr563fs)
|
rs587779103
|
|
NM_000251.3(MSH2):c.1688A>G (p.Tyr563Cys)
|
rs63751054
|
|
NM_000251.3(MSH2):c.1692_1693del (p.Lys565_Asn566insTer)
|
rs1553367635
|
|
NM_000251.3(MSH2):c.1693A>T (p.Lys565Ter)
|
rs587779104
|
|
NM_000251.3(MSH2):c.1696A>C (p.Asn566His)
|
|
|
NM_000251.3(MSH2):c.1696_1697del (p.Lys565_Asn566insTer)
|
rs63750737
|
|
NM_000251.3(MSH2):c.1696_1702del (p.Asn566fs)
|
|
|
NM_000251.3(MSH2):c.1697del (p.Asn566fs)
|
rs63750737
|
|
NM_000251.3(MSH2):c.1697dup (p.Asn566fs)
|
|
|
NM_000251.3(MSH2):c.1698del (p.Asn566fs)
|
rs2104275987
|
|
NM_000251.3(MSH2):c.1699A>T (p.Lys567Ter)
|
rs63751149
|
|
NM_000251.3(MSH2):c.1700_1704del (p.Lys567fs)
|
rs63750474
|
|
NM_000251.3(MSH2):c.1702del (p.Thr568fs)
|
|
|
NM_000251.3(MSH2):c.1702dup (p.Thr568fs)
|
rs587779105
|
|
NM_000251.3(MSH2):c.1703_1704del (p.Thr568fs)
|
|
|
NM_000251.3(MSH2):c.1704del (p.Glu569fs)
|
rs1667076589
|
|
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs)
|
rs63750393
|
|
NM_000251.3(MSH2):c.1705_1706dup (p.Tyr570fs)
|
rs63750393
|
|
NM_000251.3(MSH2):c.1705_1706insT (p.Glu569fs)
|
rs587779106
|
|
NM_000251.3(MSH2):c.1706A>G (p.Glu569Gly)
|
rs786201077
|
|
NM_000251.3(MSH2):c.1707del (p.Glu569fs)
|
|
|
NM_000251.3(MSH2):c.1708del (p.Tyr570fs)
|
rs1131692279
|
|
NM_000251.3(MSH2):c.1714G>T (p.Glu572Ter)
|
|
|
NM_000251.3(MSH2):c.1714del (p.Glu572fs)
|
|
|
NM_000251.3(MSH2):c.1717del (p.Ala573fs)
|
rs267607974
|
|
NM_000251.3(MSH2):c.1720C>T (p.Gln574Ter)
|
rs63751298
|
|
NM_000251.3(MSH2):c.1720del (p.Gln574fs)
|
rs63751299
|
|
NM_000251.3(MSH2):c.1721A>C (p.Gln574Pro)
|
rs1667078647
|
|
NM_000251.3(MSH2):c.1723del (p.Asp575fs)
|
|
|
NM_000251.3(MSH2):c.1731del (p.Ile577fs)
|
|
|
NM_000251.3(MSH2):c.1738G>T (p.Glu580Ter)
|
rs63751411
|
|
NM_000251.3(MSH2):c.1741del (p.Ile581fs)
|
rs63750141
|
|
NM_000251.3(MSH2):c.1744del (p.Val582fs)
|
rs587779964
|
|
NM_000251.3(MSH2):c.1746C>T (p.Val582=)
|
rs786201486
|
|
NM_000251.3(MSH2):c.1747_1748del (p.Asn583fs)
|
rs1553367687
|
|
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile)
|
rs201118107
|
|
NM_000251.3(MSH2):c.1749dup (p.Ile584fs)
|
|
|
NM_000251.3(MSH2):c.174C>A (p.Phe58Leu)
|
rs372189599
|
|
NM_000251.3(MSH2):c.174C>G (p.Phe58Leu)
|
rs372189599
|
|
NM_000251.3(MSH2):c.174dup (p.Lys59fs)
|
rs1672250622
|
|
NM_000251.3(MSH2):c.1753del (p.Ser585fs)
|
rs63751433
|
|
NM_000251.3(MSH2):c.1755T>C (p.Ser585=)
|
rs63750112
|
|
NM_000251.3(MSH2):c.1757C>A (p.Ser586Ter)
|
|
|
NM_000251.3(MSH2):c.1757C>G (p.Ser586Ter)
|
rs1114167854
|
|
NM_000251.3(MSH2):c.1759+11_1759+15del
|
rs878853805
|
|
NM_000251.3(MSH2):c.1759+16C>G
|
rs1057517573
|
|
NM_000251.3(MSH2):c.1759+1G>A
|
rs587779108
|
|
NM_000251.3(MSH2):c.1759+1G>T
|
rs587779108
|
|
NM_000251.3(MSH2):c.1759+2T>A
|
rs267607976
|
|
NM_000251.3(MSH2):c.1759+2T>C
|
rs267607976
|
|
NM_000251.3(MSH2):c.1759+305_2006-34del
|
|
|
NM_000251.3(MSH2):c.1759G>C (p.Gly587Arg)
|
rs63751140
|
|
NM_000251.3(MSH2):c.1760-110_1760-108dup
|
rs587779109
|
|
NM_000251.3(MSH2):c.1760-1G>A
|
rs587779110
|
|
NM_000251.3(MSH2):c.1760-2_1783del
|
rs1064795329
|
|
NM_000251.3(MSH2):c.1760-361_2634+838del
|
|
|
NM_000251.3(MSH2):c.1760del (p.Gly587Alafs)
|
rs63750103
|
|
NM_000251.3(MSH2):c.1763_1764del (p.Tyr588fs)
|
rs1667229261
|
|
NM_000251.3(MSH2):c.1764T>G (p.Tyr588Ter)
|
rs63750844
|
|
NM_000251.3(MSH2):c.1765G>A (p.Val589Ile)
|
rs1064793981
|
|
NM_000251.3(MSH2):c.1770del (p.Glu590fs)
|
rs1573566217
|
|
NM_000251.3(MSH2):c.1771_1772insA (p.Pro591fs)
|
rs267607977
|
|
NM_000251.3(MSH2):c.1777C>T (p.Gln593Ter)
|
rs63750200
|
|
NM_000251.3(MSH2):c.1779_1782del (p.Gln593fs)
|
rs63750113
|
|
NM_000251.3(MSH2):c.177_178insTACCCTTGGGGTACAAG (p.Thr60fs)
|
|
|
NM_000251.3(MSH2):c.1781_1782insCT (p.Leu595fs)
|
rs267607691
|
|
NM_000251.3(MSH2):c.1782dup (p.Leu595fs)
|
rs876658940
|
|
NM_000251.3(MSH2):c.1783C>T (p.Leu595Phe)
|
rs1553368514
|
|
NM_000251.3(MSH2):c.1784T>G (p.Leu595Arg)
|
rs786201590
|
|
NM_000251.3(MSH2):c.1785dup (p.Asn596fs)
|
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
NM_000251.3(MSH2):c.1787dup (p.Asn596fs)
|
rs587779111
|
|
NM_000251.3(MSH2):c.1788_1789del (p.Asn596fs)
|
rs63750495
|
|
NM_000251.3(MSH2):c.1793del (p.Val598fs)
|
rs786202790
|
|
NM_000251.3(MSH2):c.1796T>G (p.Leu599Ter)
|
|
|
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter)
|
rs63750047
|
|
NM_000251.3(MSH2):c.1801_1805del (p.Gln601fs)
|
rs1573566488
|
|
NM_000251.3(MSH2):c.1802_1803dup (p.Leu602fs)
|
|
|
NM_000251.3(MSH2):c.1803G>C (p.Gln601His)
|
rs1553368556
|
|
NM_000251.3(MSH2):c.1803dup (p.Leu602fs)
|
rs786203704
|
|
NM_000251.3(MSH2):c.1804_1805insAG (p.Leu602fs)
|
|
|
NM_000251.3(MSH2):c.1807G>A (p.Asp603Asn)
|
rs63750657
|
|
NM_000251.3(MSH2):c.1807G>C (p.Asp603His)
|
rs63750657
|
|
NM_000251.3(MSH2):c.1807G>T (p.Asp603Tyr)
|
|
|
NM_000251.3(MSH2):c.1808A>G (p.Asp603Gly)
|
rs267607985
|
|
NM_000251.3(MSH2):c.1809del (p.Asp603fs)
|
rs63751129
|
|
NM_000251.3(MSH2):c.1811C>A (p.Ala604Asp)
|
|
|
NM_000251.3(MSH2):c.1813G>A (p.Val605Ile)
|
rs730881777
|
|
NM_000251.3(MSH2):c.1817T>C (p.Val606Ala)
|
rs376044376
|
|
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)
|
rs63750951
|
|
NM_000251.3(MSH2):c.1827del (p.His610fs)
|
rs587779112
|
|
NM_000251.3(MSH2):c.1828C>A (p.His610Asn)
|
rs267607980
|
|
NM_000251.3(MSH2):c.1828C>T (p.His610Tyr)
|
rs267607980
|
|
NM_000251.3(MSH2):c.1829A>C (p.His610Pro)
|
|
|
NM_000251.3(MSH2):c.182A>C (p.Gln61Pro)
|
rs587779113
|
|
NM_000251.3(MSH2):c.182del (p.Gln61fs)
|
rs1553348882
|
|
NM_000251.3(MSH2):c.1832T>A (p.Val611Glu)
|
rs1553368590
|
|
NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter)
|
rs63750493
|
|
NM_000251.3(MSH2):c.1838dup (p.Asn613fs)
|
rs1114167815
|
|
NM_000251.3(MSH2):c.1840G>T (p.Gly614Ter)
|
rs1380847972
|
|
NM_000251.3(MSH2):c.1850T>C (p.Val617Ala)
|
rs1260310695
|
|
NM_000251.3(MSH2):c.1850_1851dup (p.Pro618fs)
|
rs1573566787
|
|
NM_000251.3(MSH2):c.1853del (p.Pro618fs)
|
rs267607984
|
|
NM_000251.3(MSH2):c.1857T>G (p.Tyr619Ter)
|
rs63750312
|
|
NM_000251.3(MSH2):c.1858_1859dup (p.Arg621fs)
|
rs63750806
|
|
NM_000251.3(MSH2):c.1861C>G (p.Arg621Gly)
|
rs63750508
|
|
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)
|
rs63750508
|
|
NM_000251.3(MSH2):c.1862_1907del (p.Arg621fs)
|
|
|
NM_000251.3(MSH2):c.1864C>A (p.Pro622Thr)
|
rs63750280
|
|
NM_000251.3(MSH2):c.1865C>A (p.Pro622Gln)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1865C>G (p.Pro622Arg)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu)
|
rs28929483
|
|
NM_000251.3(MSH2):c.1865del (p.Pro622fs)
|
|
|
NM_000251.3(MSH2):c.1868_1876delinsTA (p.Ala623fs)
|
|
|
NM_000251.3(MSH2):c.1869del (p.Ile624fs)
|
|
|
NM_000251.3(MSH2):c.186_187dup (p.Val63fs)
|
rs63750160
|
|
NM_000251.3(MSH2):c.1876G>T (p.Glu626Ter)
|
rs1667240403
|
|
NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer)
|
rs63750160
|
|
NM_000251.3(MSH2):c.187dup (p.Val63fs)
|
rs63750160
|
|
NM_000251.3(MSH2):c.1881del (p.Gly628fs)
|
|
|
NM_000251.3(MSH2):c.1882G>T (p.Gly628Ter)
|
rs371776176
|
|
NM_000251.3(MSH2):c.1883del (p.Gly628fs)
|
rs1064795127
|
|
NM_000251.3(MSH2):c.1884A>T (p.Gly628=)
|
rs786202663
|
|
NM_000251.3(MSH2):c.1885C>T (p.Gln629Ter)
|
rs63750203
|
|
NM_000251.3(MSH2):c.1889_1892del (p.Gly630fs)
|
rs63750960
|
|
NM_000251.3(MSH2):c.1889del (p.Gly630fs)
|
|
|
NM_000251.3(MSH2):c.1892G>A (p.Arg631Lys)
|
rs1361816581
|
|
NM_000251.3(MSH2):c.1897_1910delinsTAATATAATT (p.Ile633_Ser637delinsTer)
|
|
|
NM_000251.3(MSH2):c.1897dup (p.Ile633fs)
|
rs587779114
|
|
NM_000251.3(MSH2):c.1899A>T (p.Ile633=)
|
rs1667243318
|
|
NM_000251.3(MSH2):c.1899_1900del (p.Leu634fs)
|
rs1573567022
|
|
NM_000251.3(MSH2):c.1901T>G (p.Leu634Ter)
|
rs1114167811
|
|
NM_000251.3(MSH2):c.1905dup (p.Ala636fs)
|
|
|
NM_000251.3(MSH2):c.1906_2005+8del
|
|
|
NM_000251.3(MSH2):c.1908_1923del (p.Ser637fs)
|
|
|
NM_000251.3(MSH2):c.190A>G (p.Ile64Val)
|
rs1166747167
|
|
NM_000251.3(MSH2):c.1911del (p.Arg638fs)
|
rs63750893
|
|
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr)
|
rs28929484
|
|
NM_000251.3(MSH2):c.1916A>C (p.His639Pro)
|
rs587779116
|
|
NM_000251.3(MSH2):c.1921del (p.Cys641fs)
|
rs1573567132
|
|
NM_000251.3(MSH2):c.1924_1925del (p.Cys641_Val642insTer)
|
rs587779117
|
|
NM_000251.3(MSH2):c.1927del (p.Glu643fs)
|
rs1667245819
|
|
NM_000251.3(MSH2):c.1929dup (p.Val644fs)
|
rs1667245915
|
|
NM_000251.3(MSH2):c.192dup (p.Lys65fs)
|
rs1553348896
|
|
NM_000251.3(MSH2):c.1933C>T (p.Gln645Ter)
|
rs267607982
|
|
NM_000251.3(MSH2):c.1933del (p.Gln645fs)
|
|
|
NM_000251.3(MSH2):c.1934A>C (p.Gln645Pro)
|
rs1573567208
|
|
NM_000251.3(MSH2):c.1939G>T (p.Glu647Ter)
|
rs63750078
|
|
NM_000251.3(MSH2):c.193A>T (p.Lys65Ter)
|
|
|
NM_000251.3(MSH2):c.1942_1945del (p.Ile648fs)
|
rs1553368675
|
|
NM_000251.3(MSH2):c.1942del (p.Ile648fs)
|
|
|
NM_000251.3(MSH2):c.1942dup (p.Ile648fs)
|
|
|
NM_000251.3(MSH2):c.1943T>C (p.Ile648Thr)
|
rs763100088
|
|
NM_000251.3(MSH2):c.1945G>A (p.Ala649Thr)
|
rs786201822
|
|
NM_000251.3(MSH2):c.1950dup (p.Ile651fs)
|
rs1114167844
|
|
NM_000251.3(MSH2):c.1954_1955del (p.Ile651_Pro652insTer)
|
|
|
NM_000251.3(MSH2):c.1955C>A (p.Pro652His)
|
rs267607983
|
|
NM_000251.3(MSH2):c.1963_1964del (p.Val655fs)
|
rs864622121
|
|
NM_000251.3(MSH2):c.1964del (p.Val655fs)
|
rs1667248887
|
|
NM_000251.3(MSH2):c.1967A>C (p.Tyr656Ser)
|
rs185356145
|
|
NM_000251.3(MSH2):c.1967_1970dup (p.Phe657fs)
|
rs587779118
|
|
NM_000251.3(MSH2):c.1968C>A (p.Tyr656Ter)
|
rs63751317
|
|
NM_000251.3(MSH2):c.1968C>G (p.Tyr656Ter)
|
rs63751317
|
|
NM_000251.3(MSH2):c.1972G>T (p.Glu658Ter)
|
|
|
NM_000251.3(MSH2):c.1979A>G (p.Asp660Gly)
|
rs1085308057
|
|
NM_000251.3(MSH2):c.1980_1981del (p.Asp660fs)
|
rs587779119
|
|
NM_000251.3(MSH2):c.1981A>T (p.Lys661Ter)
|
rs1553368707
|
|
NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs)
|
rs587779120
|
|
NM_000251.3(MSH2):c.1983dup (p.Gln662fs)
|
|
|
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)
|
rs786204321
|
|
NM_000251.3(MSH2):c.1984_1985del (p.Gln662fs)
|
rs587779121
|
|
NM_000251.3(MSH2):c.1986_1987del (p.Gln662fs)
|
rs587779122
|
|
NM_000251.3(MSH2):c.1986del (p.Met663fs)
|
rs63749929
|
|
NM_000251.3(MSH2):c.1989del (p.Met663fs)
|
rs1558518588
|
|
NM_000251.3(MSH2):c.198C>A (p.Tyr66Ter)
|
rs730881784
|
|
NM_000251.3(MSH2):c.198C>G (p.Tyr66Ter)
|
rs730881784
|
|
NM_000251.3(MSH2):c.198del (p.Lys65_Tyr66insTer)
|
|
|
NM_000251.3(MSH2):c.1993del (p.His665fs)
|
rs1667251882
|
|
NM_000251.3(MSH2):c.1996A>G (p.Ile666Val)
|
rs1667252115
|
|
NM_000251.3(MSH2):c.1996_1997del (p.Ile666fs)
|
rs63751700
|
|
NM_000251.3(MSH2):c.19G>C (p.Glu7Gln)
|
rs375561490
|
|
NM_000251.3(MSH2):c.1A>C (p.Met1Leu)
|
rs267607911
|
|
NM_000251.3(MSH2):c.1A>G (p.Met1Val)
|
rs267607911
|
|
NM_000251.3(MSH2):c.1A>T (p.Met1Leu)
|
rs267607911
|
|
NM_000251.3(MSH2):c.2003del (p.Thr668fs)
|
rs1573567630
|
|
NM_000251.3(MSH2):c.2004delinsCA (p.Gly669fs)
|
rs876659961
|
|
NM_000251.3(MSH2):c.2005+1G>A
|
rs267607986
|
|
NM_000251.3(MSH2):c.2005+1G>C
|
rs267607986
|
|
NM_000251.3(MSH2):c.2005+1G>T
|
rs267607986
|
|
NM_000251.3(MSH2):c.2005+2T>A
|
|
|
NM_000251.3(MSH2):c.2005+2T>C
|
rs267607987
|
|
NM_000251.3(MSH2):c.2005+2T>G
|
rs267607987
|
|
NM_000251.3(MSH2):c.2005+2_2005+12del
|
rs587779123
|
|
NM_000251.3(MSH2):c.2005+2del
|
rs587779124
|
|
NM_000251.3(MSH2):c.2005+2dup
|
rs541623924
|
|
NM_000251.3(MSH2):c.2005+3A>G
|
rs1060502014
|
|
NM_000251.3(MSH2):c.2005+59_2005+61dup
|
rs76761634
|
|
NM_000251.3(MSH2):c.2005+8dup
|
rs267607992
|
|
NM_000251.3(MSH2):c.2005G>C (p.Gly669Arg)
|
rs63751668
|
|
NM_000251.3(MSH2):c.2006-1G>A
|
|
|
NM_000251.3(MSH2):c.2006-1G>C
|
rs267607988
|
|
NM_000251.3(MSH2):c.2006-1G>T
|
rs267607988
|
|
NM_000251.3(MSH2):c.2006-2A>G
|
rs267607991
|
|
NM_000251.3(MSH2):c.2006-4_2006-2delinsCT
|
|
|
NM_000251.3(MSH2):c.2006-6_2006-2delinsCTGTG
|
|
|
NM_000251.3(MSH2):c.2006-7_2022del
|
rs2104367794
|
|
NM_000251.3(MSH2):c.2006G>A (p.Gly669Asp)
|
rs63751640
|
|
NM_000251.3(MSH2):c.2006G>T (p.Gly669Val)
|
rs63751640
|
|
NM_000251.3(MSH2):c.2008C>T (p.Pro670Ser)
|
rs1558519495
|
|
NM_000251.3(MSH2):c.2009C>A (p.Pro670His)
|
rs41294982
|
|
NM_000251.3(MSH2):c.200T>A (p.Met67Lys)
|
rs876660001
|
|
NM_000251.3(MSH2):c.2010del (p.Asn671fs)
|
rs63751123
|
|
NM_000251.3(MSH2):c.2010dup (p.Asn671fs)
|
rs63751123
|
|
NM_000251.3(MSH2):c.2011A>T (p.Asn671Tyr)
|
rs63751232
|
|
NM_000251.3(MSH2):c.2012A>G (p.Asn671Ser)
|
rs1558519505
|
|
NM_000251.3(MSH2):c.2013T>A (p.Asn671Lys)
|
rs587779127
|
|
NM_000251.3(MSH2):c.2013del (p.Asn671fs)
|
rs1553368988
|
|
NM_000251.3(MSH2):c.2015del (p.Met672fs)
|
rs63751161
|
|
NM_000251.3(MSH2):c.2017G>A (p.Gly673Arg)
|
rs1558519543
|
|
NM_000251.3(MSH2):c.2020G>C (p.Gly674Arg)
|
rs63750234
|
|
NM_000251.3(MSH2):c.2021G>A (p.Gly674Asp)
|
rs267607996
|
|
NM_000251.3(MSH2):c.2021_2022del (p.Gly674fs)
|
rs267608000
|
|
NM_000251.3(MSH2):c.2023A>T (p.Lys675Ter)
|
|
|
NM_000251.3(MSH2):c.2027C>A (p.Ser676Ter)
|
|
|
NM_000251.3(MSH2):c.2027C>G (p.Ser676Ter)
|
rs1057520735
|
|
NM_000251.3(MSH2):c.2027C>T (p.Ser676Leu)
|
rs1057520735
|
|
NM_000251.3(MSH2):c.2028A>C (p.Ser676=)
|
rs1057522032
|
|
NM_000251.3(MSH2):c.2030C>G (p.Thr677Arg)
|
rs876660711
|
|
NM_000251.3(MSH2):c.2032T>C (p.Tyr678His)
|
rs876659093
|
|
NM_000251.3(MSH2):c.2035_2036del (p.Ile679fs)
|
rs587779129
|
|
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)
|
rs63749932
|
|
NM_000251.3(MSH2):c.2039G>C (p.Arg680Pro)
|
rs1203462814
|
|
NM_000251.3(MSH2):c.203G>A (p.Gly68Glu)
|
rs1064795914
|
|
NM_000251.3(MSH2):c.2041C>G (p.Gln681Glu)
|
rs730881762
|
|
NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter)
|
rs730881762
|
|
NM_000251.3(MSH2):c.2042A>C (p.Gln681Pro)
|
rs1667302018
|
|
NM_000251.3(MSH2):c.2042_2045delinsCAAT (p.Gln681_Thr682delinsProIle)
|
|
|
NM_000251.3(MSH2):c.2045_2047delinsTT (p.Thr682fs)
|
rs1553369034
|
|
NM_000251.3(MSH2):c.2046_2047del (p.Val684fs)
|
rs587779131
|
|
NM_000251.3(MSH2):c.2047G>C (p.Gly683Arg)
|
|
|
NM_000251.3(MSH2):c.204del (p.Pro69fs)
|
rs63750199
|
|
NM_000251.3(MSH2):c.2054T>G (p.Ile685Arg)
|
rs1667303602
|
|
NM_000251.3(MSH2):c.2055A>G (p.Ile685Met)
|
rs989001878
|
|
NM_000251.3(MSH2):c.2060T>C (p.Leu687Pro)
|
rs587779133
|
|
NM_000251.3(MSH2):c.2060T>G (p.Leu687Arg)
|
|
|
NM_000251.3(MSH2):c.2063T>C (p.Met688Thr)
|
rs63749993
|
|
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)
|
rs63749993
|
|
NM_000251.3(MSH2):c.2065G>A (p.Ala689Thr)
|
rs914610419
|
|
NM_000251.3(MSH2):c.2065G>C (p.Ala689Pro)
|
rs914610419
|
|
NM_000251.3(MSH2):c.2066C>A (p.Ala689Asp)
|
rs1060502020
|
|
NM_000251.3(MSH2):c.2068C>A (p.Gln690Lys)
|
|
|
NM_000251.3(MSH2):c.206del (p.Pro69fs)
|
rs1553348904
|
|
NM_000251.3(MSH2):c.2071dup (p.Ile691fs)
|
rs63749878
|
|
NM_000251.3(MSH2):c.2074G>C (p.Gly692Arg)
|
rs63750232
|
|
NM_000251.3(MSH2):c.2074G>T (p.Gly692Trp)
|
rs63750232
|
|
NM_000251.3(MSH2):c.2074_2081del (p.Gly692fs)
|
rs587779135
|
|
NM_000251.3(MSH2):c.2075G>A (p.Gly692Glu)
|
rs63751432
|
|
NM_000251.3(MSH2):c.2075G>T (p.Gly692Val)
|
rs63751432
|
|
NM_000251.3(MSH2):c.2077T>C (p.Cys693Arg)
|
rs1558519728
|
|
NM_000251.3(MSH2):c.2078G>A (p.Cys693Tyr)
|
rs1057524909
|
|
NM_000251.3(MSH2):c.207_211+42del
|
rs1553348901
|
|
NM_000251.3(MSH2):c.2080T>A (p.Phe694Ile)
|
rs63751409
|
|
NM_000251.3(MSH2):c.2082del (p.Phe694fs)
|
rs63750689
|
|
NM_000251.3(MSH2):c.2082dup (p.Val695fs)
|
|
|
NM_000251.3(MSH2):c.2083G>A (p.Val695Met)
|
rs772491283
|
|
NM_000251.3(MSH2):c.2086C>G (p.Pro696Ala)
|
rs546201898
|
|
NM_000251.3(MSH2):c.2087C>G (p.Pro696Arg)
|
|
|
NM_000251.3(MSH2):c.2087C>T (p.Pro696Leu)
|
rs267607994
|
|
NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg)
|
rs63750961
|
|
NM_000251.3(MSH2):c.2090G>A (p.Cys697Tyr)
|
rs63750398
|
|
NM_000251.3(MSH2):c.2090G>T (p.Cys697Phe)
|
rs63750398
|
|
NM_000251.3(MSH2):c.2091T>A (p.Cys697Ter)
|
rs63750872
|
|
NM_000251.3(MSH2):c.2091T>G (p.Cys697Trp)
|
|
|
NM_000251.3(MSH2):c.2091dup (p.Glu698Ter)
|
|
|
NM_000251.3(MSH2):c.2095T>C (p.Ser699Pro)
|
rs1428704795
|
|
NM_000251.3(MSH2):c.2096C>A (p.Ser699Ter)
|
|
|
NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter)
|
rs587779136
|
|
NM_000251.3(MSH2):c.2099C>A (p.Ala700Glu)
|
rs876658251
|
|
NM_000251.3(MSH2):c.209C>A (p.Ala70Glu)
|
rs587782481
|
|
NM_000251.3(MSH2):c.209C>T (p.Ala70Val)
|
rs587782481
|
|
NM_000251.3(MSH2):c.20del (p.Glu7fs)
|
rs267607915
|
|
NM_000251.3(MSH2):c.2100del (p.Glu701fs)
|
rs1553369113
|
|
NM_000251.3(MSH2):c.2101G>T (p.Glu701Ter)
|
|
|
NM_000251.3(MSH2):c.2105T>A (p.Val702Glu)
|
rs587779137
|
|
NM_000251.3(MSH2):c.2105T>G (p.Val702Gly)
|
rs587779137
|
|
NM_000251.3(MSH2):c.2109del (p.Ile704fs)
|
|
|
NM_000251.3(MSH2):c.211+1G>A
|
|
|
NM_000251.3(MSH2):c.211+1G>C
|
rs1114167883
|
|
NM_000251.3(MSH2):c.211+1G>T
|
rs1114167883
|
|
NM_000251.3(MSH2):c.211+2T>G
|
|
|
NM_000251.3(MSH2):c.211+3G>T
|
rs778940305
|
|
NM_000251.3(MSH2):c.211+5G>A
|
rs1060501999
|
|
NM_000251.3(MSH2):c.2113del (p.Val705fs)
|
rs63749811
|
|
NM_000251.3(MSH2):c.2116del (p.Asp706fs)
|
rs1553369131
|
|
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)
|
rs587782659
|
|
NM_000251.3(MSH2):c.212-1G>A
|
rs267607914
|
|
NM_000251.3(MSH2):c.212-1G>T
|
rs267607914
|
|
NM_000251.3(MSH2):c.212-2A>G
|
rs267607917
|
|
NM_000251.3(MSH2):c.212-2A>T
|
rs267607917
|
|
NM_000251.3(MSH2):c.212-3_213del
|
rs1573436131
|
|
NM_000251.3(MSH2):c.212-478T>G
|
rs587779138
|
|
NM_000251.3(MSH2):c.212-4del
|
rs746333570
|
|
NM_000251.3(MSH2):c.2120G>C (p.Cys707Ser)
|
rs373226409
|
|
NM_000251.3(MSH2):c.2123T>A (p.Ile708Asn)
|
rs63750108
|
|
NM_000251.3(MSH2):c.2127del (p.Ala710fs)
|
|
|
NM_000251.3(MSH2):c.2132G>C (p.Arg711Pro)
|
rs138465383
|
|
NM_000251.3(MSH2):c.2134G>A (p.Val712Ile)
|
rs1573570391
|
|
NM_000251.3(MSH2):c.2135dup (p.Gly713fs)
|
rs63751453
|
|
NM_000251.3(MSH2):c.2139G>C (p.Gly713=)
|
rs63750003
|
|
NM_000251.3(MSH2):c.2139G>T (p.Gly713=)
|
rs63750003
|
|
NM_000251.3(MSH2):c.213_366+1del
|
rs1553350052
|
|
NM_000251.3(MSH2):c.2141dup (p.Gly715fs)
|
rs63750545
|
|
NM_000251.3(MSH2):c.2148del (p.Asp716fs)
|
rs1553369165
|
|
NM_000251.3(MSH2):c.2150G>A (p.Ser717Asn)
|
rs752883472
|
|
NM_000251.3(MSH2):c.2150_2153del (p.Ser717fs)
|
rs878853809
|
|
NM_000251.3(MSH2):c.2150del (p.Ser717fs)
|
|
|
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)
|
rs587779139
|
|
NM_000251.3(MSH2):c.2160_2163del (p.Gly721fs)
|
rs63750722
|
|
NM_000251.3(MSH2):c.2161G>T (p.Gly721Ter)
|
rs1060502032
|
|
NM_000251.3(MSH2):c.2163dup (p.Val722fs)
|
|
|
NM_000251.3(MSH2):c.2164G>T (p.Val722Phe)
|
rs587781996
|
|
NM_000251.3(MSH2):c.2166_2188dup (p.Leu730fs)
|
|
|
NM_000251.3(MSH2):c.2167dup (p.Ser723fs)
|
rs587779140
|
|
NM_000251.3(MSH2):c.2168C>T (p.Ser723Phe)
|
rs63750794
|
|
NM_000251.3(MSH2):c.2173_2174insGGAGT (p.Phe725fs)
|
|
|
NM_000251.3(MSH2):c.2179del (p.Ala727fs)
|
rs1573570621
|
|
NM_000251.3(MSH2):c.2181dup (p.Glu728Ter)
|
rs2104378200
|
|
NM_000251.3(MSH2):c.2182_2199del (p.Glu728_Ala733del)
|
rs1553369194
|
|
NM_000251.3(MSH2):c.2185_2192delinsCCCT (p.Met729fs)
|
rs2104378383
|
|
NM_000251.3(MSH2):c.2191G>T (p.Glu731Ter)
|
rs63749802
|
|
NM_000251.3(MSH2):c.2194A>C (p.Thr732Pro)
|
|
|
NM_000251.3(MSH2):c.2194_2209dup (p.Arg737fs)
|
|
|
NM_000251.3(MSH2):c.2195C>T (p.Thr732Ile)
|
rs730881765
|
|
NM_000251.3(MSH2):c.21dup (p.Thr8fs)
|
rs1553348668
|
|
NM_000251.3(MSH2):c.2204del (p.Ile735fs)
|
rs63750572
|
|
NM_000251.3(MSH2):c.2210+116_2562del
|
|
|
NM_000251.3(MSH2):c.2210+11_2210+22del
|
rs730881782
|
|
NM_000251.3(MSH2):c.2210+1G>A
|
rs267608002
|
|
NM_000251.3(MSH2):c.2210+1G>C
|
rs267608002
|
|
NM_000251.3(MSH2):c.2210+2T>A
|
|
|
NM_000251.3(MSH2):c.2210+8C>T
|
rs778020437
|
|
NM_000251.3(MSH2):c.2211-10T>A
|
rs267608006
|
|
NM_000251.3(MSH2):c.2211-1G>A
|
rs267607979
|
|
NM_000251.3(MSH2):c.2211-1G>C
|
rs267607979
|
|
NM_000251.3(MSH2):c.2211-1G>T
|
rs267607979
|
|
NM_000251.3(MSH2):c.2211-2A>C
|
rs267608001
|
|
NM_000251.3(MSH2):c.2211-2A>G
|
rs267608001
|
|
NM_000251.3(MSH2):c.2211-2A>T
|
rs267608001
|
|
NM_000251.3(MSH2):c.221del (p.Asn74fs)
|
|
|
NM_000251.3(MSH2):c.221dup (p.Asn74fs)
|
|
|
NM_000251.3(MSH2):c.2220_2223dup (p.Asp742fs)
|
rs1573573619
|
|
NM_000251.3(MSH2):c.2222_2223del (p.Lys741fs)
|
rs1667386244
|
|
NM_000251.3(MSH2):c.2222_2225del (p.Lys741fs)
|
|
|
NM_000251.3(MSH2):c.2228C>A (p.Ser743Ter)
|
rs63751155
|
|
NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter)
|
rs63751155
|
|
NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu)
|
rs63751155
|
|
NM_000251.3(MSH2):c.2228_2231del (p.Asp742_Ser743insTer)
|
rs63751156
|
|
NM_000251.3(MSH2):c.2231T>G (p.Leu744Ter)
|
rs63750403
|
|
NM_000251.3(MSH2):c.2236_2237dup (p.Ile747fs)
|
|
|
NM_000251.3(MSH2):c.2236_2241del (p.Ile746_Ile747del)
|
rs587779142
|
|
NM_000251.3(MSH2):c.2236dup (p.Ile746fs)
|
rs863225392
|
|
NM_000251.3(MSH2):c.2237_2238insA (p.Ile747fs)
|
rs1553369641
|
|
NM_000251.3(MSH2):c.2237_2240del (p.Ile746fs)
|
|
|
NM_000251.3(MSH2):c.223_224del (p.Leu75fs)
|
rs63750712
|
|
NM_000251.3(MSH2):c.2240_2241del (p.Ile747fs)
|
rs63751036
|
|
NM_000251.3(MSH2):c.2242G>C (p.Asp748His)
|
rs267608007
|
|
NM_000251.3(MSH2):c.2243A>T (p.Asp748Val)
|
rs1558521518
|
|
NM_000251.3(MSH2):c.2245G>A (p.Glu749Lys)
|
rs63751477
|
|
NM_000251.3(MSH2):c.2245G>T (p.Glu749Ter)
|
rs63751477
|
|
NM_000251.3(MSH2):c.2246A>G (p.Glu749Gly)
|
|
|
NM_000251.3(MSH2):c.2246_2250del (p.Glu749fs)
|
rs1553369665
|
|
NM_000251.3(MSH2):c.224dup (p.Gln76fs)
|
|
|
NM_000251.3(MSH2):c.2251G>A (p.Gly751Arg)
|
rs63751119
|
|
NM_000251.3(MSH2):c.2251G>C (p.Gly751Arg)
|
rs63751119
|
|
NM_000251.3(MSH2):c.2254A>T (p.Arg752Ter)
|
|
|
NM_000251.3(MSH2):c.2257G>T (p.Gly753Ter)
|
|
|
NM_000251.3(MSH2):c.2258G>T (p.Gly753Val)
|
|
|
NM_000251.3(MSH2):c.2260A>G (p.Thr754Ala)
|
rs757268664
|
|
NM_000251.3(MSH2):c.2260A>T (p.Thr754Ser)
|
rs757268664
|
|
NM_000251.3(MSH2):c.2261del (p.Thr754fs)
|
rs267608009
|
|
NM_000251.3(MSH2):c.2263_2269del (p.Ser755fs)
|
|
|
NM_000251.3(MSH2):c.2263del (p.Ser755fs)
|
|
|
NM_000251.3(MSH2):c.2266A>C (p.Thr756Pro)
|
rs750646335
|
|
NM_000251.3(MSH2):c.226C>T (p.Gln76Ter)
|
rs63750042
|
|
NM_000251.3(MSH2):c.2271C>A (p.Tyr757Ter)
|
|
|
NM_000251.3(MSH2):c.2271C>G (p.Tyr757Ter)
|
rs56076152
|
|
NM_000251.3(MSH2):c.2272G>T (p.Asp758Tyr)
|
rs876658254
|
|
NM_000251.3(MSH2):c.2275G>T (p.Gly759Ter)
|
rs63749854
|
|
NM_000251.3(MSH2):c.2276G>A (p.Gly759Glu)
|
rs386833406
|
|
NM_000251.3(MSH2):c.2276G>T (p.Gly759Val)
|
rs386833406
|
|
NM_000251.3(MSH2):c.2279T>C (p.Phe760Ser)
|
rs1573573888
|
|
NM_000251.3(MSH2):c.2281G>A (p.Gly761Arg)
|
rs1060502038
|
|
NM_000251.3(MSH2):c.2281G>C (p.Gly761Arg)
|
rs1060502038
|
|
NM_000251.3(MSH2):c.2283del (p.Gly761_Leu762insTer)
|
rs786204050
|
|
NM_000251.3(MSH2):c.2285T>A (p.Leu762Ter)
|
|
|
NM_000251.3(MSH2):c.2285T>C (p.Leu762Ser)
|
rs1558521698
|
|
NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro)
|
rs1318630651
|
|
NM_000251.3(MSH2):c.2288C>T (p.Ala763Val)
|
rs144412585
|
|
NM_000251.3(MSH2):c.2290del (p.Trp764fs)
|
rs63749913
|
|
NM_000251.3(MSH2):c.2290dup (p.Trp764fs)
|
rs2104402437
|
|
NM_000251.3(MSH2):c.2291G>A (p.Trp764Ter)
|
rs587779143
|
|
NM_000251.3(MSH2):c.2291_2297del (p.Trp764fs)
|
|
|
NM_000251.3(MSH2):c.2292G>A (p.Trp764Ter)
|
rs63751105
|
|
NM_000251.3(MSH2):c.2293G>A (p.Ala765Thr)
|
rs63750368
|
|
NM_000251.3(MSH2):c.2294C>T (p.Ala765Val)
|
rs1261458082
|
|
NM_000251.3(MSH2):c.2294del (p.Ala765fs)
|
rs63750346
|
|
NM_000251.3(MSH2):c.2295_2296insTA (p.Ile766Ter)
|
rs863225393
|
|
NM_000251.3(MSH2):c.2295del (p.Ile766fs)
|
rs63751143
|
|
NM_000251.3(MSH2):c.2297del (p.Ile766fs)
|
rs863225394
|
|
NM_000251.3(MSH2):c.2298A>G (p.Ile766Met)
|
rs1064795116
|
|
NM_000251.3(MSH2):c.2298_2299dup (p.Ser767fs)
|
|
|
NM_000251.3(MSH2):c.2299del (p.Ser767fs)
|
rs1573574024
|
|
NM_000251.3(MSH2):c.229_230del (p.Ser77fs)
|
rs63749848
|
|
NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter)
|
rs863225395
|
|
NM_000251.3(MSH2):c.2304del (p.Glu768fs)
|
rs587783053
|
|
NM_000251.3(MSH2):c.2305del (p.Tyr769fs)
|
rs63750896
|
|
NM_000251.3(MSH2):c.2307C>A (p.Tyr769Ter)
|
|
|
NM_000251.3(MSH2):c.2307C>G (p.Tyr769Ter)
|
rs1573574086
|
|
NM_000251.3(MSH2):c.2312C>A (p.Ala771Glu)
|
|
|
NM_000251.3(MSH2):c.2317A>G (p.Lys773Glu)
|
rs1558521813
|
|
NM_000251.3(MSH2):c.2320A>G (p.Ile774Val)
|
rs775464903
|
|
NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr)
|
rs878853811
|
|
NM_000251.3(MSH2):c.2321T>G (p.Ile774Ser)
|
rs878853811
|
|
NM_000251.3(MSH2):c.2322del (p.Ile774fs)
|
|
|
NM_000251.3(MSH2):c.2325dup (p.Ala776fs)
|
|
|
NM_000251.3(MSH2):c.232_233del (p.Val78fs)
|
|
|
NM_000251.3(MSH2):c.2332del (p.Cys778fs)
|
rs1573574188
|
|
NM_000251.3(MSH2):c.2332dup (p.Cys778fs)
|
rs1573574188
|
|
NM_000251.3(MSH2):c.2333_2334delinsT (p.Cys778fs)
|
rs1114167872
|
|
NM_000251.3(MSH2):c.2334C>A (p.Cys778Ter)
|
rs63750618
|
|
NM_000251.3(MSH2):c.2335dup (p.Met779fs)
|
rs63750149
|
|
NM_000251.3(MSH2):c.2342del (p.Ala781fs)
|
|
|
NM_000251.3(MSH2):c.2347C>T (p.His783Tyr)
|
rs1553369748
|
|
NM_000251.3(MSH2):c.2347del (p.His783fs)
|
rs63750233
|
|
NM_000251.3(MSH2):c.2352del (p.His785fs)
|
rs1667395869
|
|
NM_000251.3(MSH2):c.2354A>C (p.His785Pro)
|
rs200252727
|
|
NM_000251.3(MSH2):c.2354A>G (p.His785Arg)
|
rs200252727
|
|
NM_000251.3(MSH2):c.2355T>C (p.His785=)
|
rs1114167840
|
|
NM_000251.3(MSH2):c.2356G>T (p.Glu786Ter)
|
rs2104405386
|
|
NM_000251.3(MSH2):c.2360T>G (p.Leu787Arg)
|
rs1558521929
|
|
NM_000251.3(MSH2):c.2360_2361dup (p.Thr788fs)
|
rs63750803
|
|
NM_000251.3(MSH2):c.2361_2364dup (p.Ala789fs)
|
|
|
NM_000251.3(MSH2):c.2361del (p.Thr788fs)
|
rs63750803
|
|
NM_000251.3(MSH2):c.2361dup (p.Thr788fs)
|
rs63750803
|
|
NM_000251.3(MSH2):c.2362_2363delinsGCA (p.Thr788fs)
|
|
|
NM_000251.3(MSH2):c.2362dup (p.Thr788fs)
|
rs63750463
|
|
NM_000251.3(MSH2):c.2363_2364del (p.Thr788fs)
|
rs63750937
|
|
NM_000251.3(MSH2):c.2363del (p.Thr788fs)
|
rs2104405789
|
|
NM_000251.3(MSH2):c.2365del (p.Ala789fs)
|
|
|
NM_000251.3(MSH2):c.2366C>G (p.Ala789Gly)
|
rs876660292
|
|
NM_000251.3(MSH2):c.2367del (p.Leu790fs)
|
rs1667397201
|
|
NM_000251.3(MSH2):c.2374_2375del (p.Asn792fs)
|
|
|
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser)
|
rs587782891
|
|
NM_000251.3(MSH2):c.2375A>T (p.Asn792Ile)
|
rs587782891
|
|
NM_000251.3(MSH2):c.2375del (p.Asn792fs)
|
|
|
NM_000251.3(MSH2):c.2377C>T (p.Gln793Ter)
|
rs730881769
|
|
NM_000251.3(MSH2):c.2381_2385dup (p.Thr796fs)
|
rs1114167832
|
|
NM_000251.3(MSH2):c.2382_2403del (p.Ile794fs)
|
|
|
NM_000251.3(MSH2):c.2384del (p.Pro795fs)
|
|
|
NM_000251.3(MSH2):c.2386A>T (p.Thr796Ser)
|
rs876660738
|
|
NM_000251.3(MSH2):c.2386_2396del (p.Thr796fs)
|
rs2104406996
|
|
NM_000251.3(MSH2):c.2388del (p.Val797fs)
|
rs63749983
|
|
NM_000251.3(MSH2):c.2389_2390del (p.Thr796_Val797insTer)
|
rs1667398945
|
|
NM_000251.3(MSH2):c.2393A>G (p.Asn798Ser)
|
rs786204073
|
|
NM_000251.3(MSH2):c.2393_2396del (p.Asn798fs)
|
rs1114167826
|
|
NM_000251.3(MSH2):c.2396dup (p.Asn799fs)
|
|
|
NM_000251.3(MSH2):c.2397_2400del (p.Leu800fs)
|
|
|
NM_000251.3(MSH2):c.2399T>C (p.Leu800Pro)
|
|
|
NM_000251.3(MSH2):c.239T>C (p.Leu80Pro)
|
|
|
NM_000251.3(MSH2):c.239_240dup (p.Ser81fs)
|
|
|
NM_000251.3(MSH2):c.239_243delinsAGATTTTGAATTTGA (p.Leu80fs)
|
|
|
NM_000251.3(MSH2):c.2402A>C (p.His801Pro)
|
rs1114167875
|
|
NM_000251.3(MSH2):c.2402A>G (p.His801Arg)
|
rs1114167875
|
|
NM_000251.3(MSH2):c.2408_2409del (p.Thr803fs)
|
rs63750060
|
|
NM_000251.3(MSH2):c.2413dup (p.Leu805fs)
|
rs1114167837
|
|
NM_000251.3(MSH2):c.2416dup (p.Thr806fs)
|
|
|
NM_000251.3(MSH2):c.2417C>T (p.Thr806Ile)
|
rs758889557
|
|
NM_000251.3(MSH2):c.2418dup (p.Thr807fs)
|
rs587779144
|
|
NM_000251.3(MSH2):c.2419dup (p.Thr807fs)
|
|
|
NM_000251.3(MSH2):c.241_262del (p.Ser81fs)
|
rs1672551053
|
|
NM_000251.3(MSH2):c.2420del (p.Thr807fs)
|
|
|
NM_000251.3(MSH2):c.2422G>T (p.Glu808Ter)
|
rs34986638
|
|
NM_000251.3(MSH2):c.2424_2428del (p.Glu808fs)
|
|
|
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)
|
rs202145681
|
|
NM_000251.3(MSH2):c.2427dup (p.Thr810fs)
|
rs63751079
|
|
NM_000251.3(MSH2):c.2430del (p.Thr810_Leu811insTer)
|
|
|
NM_000251.3(MSH2):c.2432T>G (p.Leu811Ter)
|
rs63751018
|
|
NM_000251.3(MSH2):c.2434dup (p.Thr812fs)
|
|
|
NM_000251.3(MSH2):c.2435C>G (p.Thr812Ser)
|
rs1553369826
|
|
NM_000251.3(MSH2):c.2437_2438dup (p.Met813fs)
|
|
|
NM_000251.3(MSH2):c.2437dup (p.Met813fs)
|
|
|
NM_000251.3(MSH2):c.2439G>C (p.Met813Ile)
|
rs587781678
|
|
NM_000251.3(MSH2):c.243_273delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG (p.Lys82_Asp91delinsTer)
|
rs1573436369
|
|
NM_000251.3(MSH2):c.2444A>G (p.Tyr815Cys)
|
rs1667403267
|
|
NM_000251.3(MSH2):c.2445T>A (p.Tyr815Ter)
|
rs1667403360
|
|
NM_000251.3(MSH2):c.2446C>T (p.Gln816Ter)
|
rs63749917
|
|
NM_000251.3(MSH2):c.244A>T (p.Lys82Ter)
|
rs587779145
|
|
NM_000251.3(MSH2):c.2450_2451insC (p.Lys818fs)
|
|
|
NM_000251.3(MSH2):c.2453A>G (p.Lys818Arg)
|
|
|
NM_000251.3(MSH2):c.2458+12T>C
|
rs1553369841
|
|
NM_000251.3(MSH2):c.2458+1G>A
|
rs267608010
|
|
NM_000251.3(MSH2):c.2458+1G>C
|
|
|
NM_000251.3(MSH2):c.2458+1G>T
|
rs267608010
|
|
NM_000251.3(MSH2):c.2458+976A>G
|
rs2104420229
|
|
NM_000251.3(MSH2):c.2459-12A>G
|
rs267608012
|
|
NM_000251.3(MSH2):c.2459-1G>A
|
rs1060501991
|
|
NM_000251.3(MSH2):c.2459-1G>C
|
rs1060501991
|
|
NM_000251.3(MSH2):c.2459-1G>T
|
|
|
NM_000251.3(MSH2):c.2459-20C>A
|
rs1553370283
|
|
NM_000251.3(MSH2):c.2459-2A>C
|
|
|
NM_000251.3(MSH2):c.2459-2A>G
|
rs267608011
|
|
NM_000251.3(MSH2):c.2459-46G>A
|
rs1573578232
|
|
NM_000251.3(MSH2):c.2459G>A (p.Gly820Asp)
|
rs794729229
|
|
NM_000251.3(MSH2):c.2460_2462delinsA (p.Val821fs)
|
|
|
NM_000251.3(MSH2):c.2461_2462del (p.Val821fs)
|
rs1114167828
|
|
NM_000251.3(MSH2):c.2462T>C (p.Val821Ala)
|
rs1573578373
|
|
NM_000251.3(MSH2):c.2463C>T (p.Val821=)
|
rs886056136
|
|
NM_000251.3(MSH2):c.2466T>A (p.Cys822Ter)
|
rs63749846
|
|
NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer)
|
rs63751621
|
|
NM_000251.3(MSH2):c.2470C>T (p.Gln824Ter)
|
rs63750623
|
|
NM_000251.3(MSH2):c.2472_2473del (p.Ser825fs)
|
rs1553370310
|
|
NM_000251.3(MSH2):c.2474del (p.Ser825fs)
|
rs1573578423
|
|
NM_000251.3(MSH2):c.2479G>C (p.Gly827Arg)
|
rs63750478
|
|
NM_000251.3(MSH2):c.247A>C (p.Met83Leu)
|
rs766196837
|
|
NM_000251.3(MSH2):c.247del (p.Lys82_Met83insTer)
|
|
|
NM_000251.3(MSH2):c.2480G>A (p.Gly827Glu)
|
rs2104435371
|
|
NM_000251.3(MSH2):c.2485_2498dup (p.Ala834fs)
|
rs587779146
|
|
NM_000251.3(MSH2):c.2485del (p.His829fs)
|
rs63751117
|
|
NM_000251.3(MSH2):c.2487_2493del (p.His829fs)
|
|
|
NM_000251.3(MSH2):c.2488G>T (p.Val830Phe)
|
|
|
NM_000251.3(MSH2):c.2494G>T (p.Glu832Ter)
|
rs863225396
|
|
NM_000251.3(MSH2):c.249G>C (p.Met83Ile)
|
rs1672552199
|
|
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs)
|
rs63751447
|
|
NM_000251.3(MSH2):c.2503A>G (p.Asn835Asp)
|
rs41295296
|
|
NM_000251.3(MSH2):c.2504_2505del (p.Asn835fs)
|
|
|
NM_000251.3(MSH2):c.2507del (p.Phe836fs)
|
rs63750008
|
|
NM_000251.3(MSH2):c.2519T>C (p.Val840Ala)
|
rs1064794561
|
|
NM_000251.3(MSH2):c.251del (p.Asn84fs)
|
rs786202037
|
|
NM_000251.3(MSH2):c.2520_2521del (p.Ile841fs)
|
|
|
NM_000251.3(MSH2):c.2521del (p.Val840_Ile841insTer)
|
rs587779147
|
|
NM_000251.3(MSH2):c.2522T>C (p.Ile841Thr)
|
rs1275767178
|
|
NM_000251.3(MSH2):c.2523dup (p.Glu842fs)
|
rs1553370366
|
|
NM_000251.3(MSH2):c.2525A>G (p.Glu842Gly)
|
rs373393954
|
|
NM_000251.3(MSH2):c.2525_2526del (p.Glu842fs)
|
rs587779148
|
|
NM_000251.3(MSH2):c.2529_2530del (p.Cys843_Ala844insTer)
|
rs63749975
|
|
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu)
|
rs63750571
|
|
NM_000251.3(MSH2):c.2533A>T (p.Lys845Ter)
|
rs63750571
|
|
NM_000251.3(MSH2):c.2536C>T (p.Gln846Ter)
|
rs63750857
|
|
NM_000251.3(MSH2):c.2545del (p.Leu849fs)
|
rs587779149
|
|
NM_000251.3(MSH2):c.2548G>T (p.Glu850Ter)
|
|
|
NM_000251.3(MSH2):c.2551_2552insCA (p.Leu851fs)
|
rs1553370381
|
|
NM_000251.3(MSH2):c.2553T>G (p.Leu851=)
|
rs1553370386
|
|
NM_000251.3(MSH2):c.2554G>T (p.Glu852Ter)
|
|
|
NM_000251.3(MSH2):c.2554GAG[1] (p.Glu853del)
|
rs766906365
|
|
NM_000251.3(MSH2):c.2557_2560dup (p.Phe854Ter)
|
|
|
NM_000251.3(MSH2):c.255_256del (p.Phe85fs)
|
rs267607921
|
|
NM_000251.3(MSH2):c.255dup (p.Glu86Ter)
|
rs63751158
|
|
NM_000251.3(MSH2):c.2562del (p.Gln855fs)
|
rs1114167836
|
|
NM_000251.3(MSH2):c.2563C>T (p.Gln855Ter)
|
rs1553370404
|
|
NM_000251.3(MSH2):c.2567A>G (p.Tyr856Cys)
|
rs587779150
|
|
NM_000251.3(MSH2):c.2572G>T (p.Gly858Ter)
|
rs754533481
|
|
NM_000251.3(MSH2):c.2573G>C (p.Gly858Ala)
|
|
|
NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter)
|
rs63749830
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
NM_000251.3(MSH2):c.2579C>A (p.Ser860Ter)
|
rs63750849
|
|
NM_000251.3(MSH2):c.257A>G (p.Glu86Gly)
|
rs1573436455
|
|
NM_000251.3(MSH2):c.2581C>T (p.Gln861Ter)
|
rs63750291
|
|
NM_000251.3(MSH2):c.2583A>G (p.Gln861=)
|
rs63751093
|
|
NM_000251.3(MSH2):c.2588_2589del (p.Gly862_Tyr863insTer)
|
|
|
NM_000251.3(MSH2):c.2588dup (p.Tyr863Ter)
|
rs1553370435
|
|
NM_000251.3(MSH2):c.2593_2597del (p.Ile865fs)
|
rs587779151
|
|
NM_000251.3(MSH2):c.2595_2597del (p.Ile865del)
|
rs759912716
|
|
NM_000251.3(MSH2):c.2595dup (p.Met866fs)
|
|
|
NM_000251.3(MSH2):c.2599G>T (p.Glu867Ter)
|
|
|
NM_000251.3(MSH2):c.2601dup (p.Pro868fs)
|
|
|
NM_000251.3(MSH2):c.260C>A (p.Ser87Tyr)
|
rs587781447
|
|
NM_000251.3(MSH2):c.2613_2614delinsAT (p.Lys872Ter)
|
|
|
NM_000251.3(MSH2):c.2615A>G (p.Lys872Arg)
|
rs587780686
|
|
NM_000251.3(MSH2):c.2622T>A (p.Tyr874Ter)
|
rs587779152
|
|
NM_000251.3(MSH2):c.2626G>T (p.Glu876Ter)
|
rs1573579206
|
|
NM_000251.3(MSH2):c.2629del (p.Arg877fs)
|
rs886041613
|
|
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs)
|
rs63751618
|
|
NM_000251.3(MSH2):c.2634+1G>A
|
rs267608019
|
|
NM_000251.3(MSH2):c.2634+1G>T
|
rs267608019
|
|
NM_000251.3(MSH2):c.2634+2T>C
|
rs876660546
|
|
NM_000251.3(MSH2):c.2634+2T>G
|
rs876660546
|
|
NM_000251.3(MSH2):c.2634+5G>C
|
rs267608017
|
|
NM_000251.3(MSH2):c.2634+5G>T
|
rs267608017
|
|
NM_000251.3(MSH2):c.2634G>A (p.Glu878=)
|
rs63751624
|
|
NM_000251.3(MSH2):c.2634G>C (p.Glu878Asp)
|
rs63751624
|
|
NM_000251.3(MSH2):c.2635-1G>A
|
rs267608020
|
|
NM_000251.3(MSH2):c.2635-1G>C
|
rs267608020
|
|
NM_000251.3(MSH2):c.2635-1G>T
|
rs267608020
|
|
NM_000251.3(MSH2):c.2635-24A>G
|
rs1667575488
|
|
NM_000251.3(MSH2):c.2635-2A>G
|
rs1114167818
|
|
NM_000251.3(MSH2):c.2635-2del
|
|
|
NM_000251.3(MSH2):c.2635C>T (p.Gln879Ter)
|
rs63751469
|
|
NM_000251.3(MSH2):c.2637del (p.Gly880fs)
|
|
|
NM_000251.3(MSH2):c.263_264del (p.Phe88fs)
|
rs267607920
|
|
NM_000251.3(MSH2):c.2645_2654dup (p.Glu886fs)
|
|
|
NM_000251.3(MSH2):c.2647del (p.Ile883fs)
|
rs63750084
|
|
NM_000251.3(MSH2):c.2647dup (p.Ile883fs)
|
rs63750084
|
|
NM_000251.3(MSH2):c.264dup (p.Val89fs)
|
rs267607920
|
|
NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter)
|
rs63750808
|
|
NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter)
|
rs1230083633
|
|
NM_000251.3(MSH2):c.2662del (p.Leu888fs)
|
rs63751007
|
|
NM_000251.3(MSH2):c.267_268insCA (p.Lys90fs)
|
|
|
NM_000251.3(MSH2):c.2680dup (p.Met894fs)
|
rs876658211
|
|
NM_000251.3(MSH2):c.2681T>G (p.Met894Arg)
|
rs1558526026
|
|
NM_000251.3(MSH2):c.2684C>T (p.Pro895Leu)
|
rs786203553
|
|
NM_000251.3(MSH2):c.2693A>C (p.Glu898Ala)
|
rs1060502037
|
|
NM_000251.3(MSH2):c.2697G>T (p.Met899Ile)
|
rs878853813
|
|
NM_000251.3(MSH2):c.269_290dup (p.Tyr98fs)
|
rs1553350126
|
|
NM_000251.3(MSH2):c.2714C>G (p.Thr905Arg)
|
rs267608022
|
|
NM_000251.3(MSH2):c.271G>C (p.Asp91His)
|
rs1558457163
|
|
NM_000251.3(MSH2):c.2725A>G (p.Lys909Glu)
|
rs879254253
|
|
NM_000251.3(MSH2):c.2726A>T (p.Lys909Ile)
|
rs34319539
|
|
NM_000251.3(MSH2):c.272A>C (p.Asp91Ala)
|
|
|
NM_000251.3(MSH2):c.272A>T (p.Asp91Val)
|
rs876660914
|
|
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)
|
rs267607919
|
|
NM_000251.3(MSH2):c.2740G>T (p.Glu914Ter)
|
rs267608024
|
|
NM_000251.3(MSH2):c.2754G>T (p.Lys918Asn)
|
rs1553370893
|
|
NM_000251.3(MSH2):c.2756ATA[1] (p.Asn920del)
|
rs1573582800
|
|
NM_000251.3(MSH2):c.2766T>G (p.Phe922Leu)
|
rs55859129
|
|
NM_000251.3(MSH2):c.276T>G (p.Leu92=)
|
rs1060504425
|
|
NM_000251.3(MSH2):c.277C>T (p.Leu93Phe)
|
rs63751429
|
|
NM_000251.3(MSH2):c.2789T>A (p.Ile930Lys)
|
rs587783054
|
|
NM_000251.3(MSH2):c.278_279del (p.Leu93fs)
|
rs63749872
|
|
NM_000251.3(MSH2):c.2790A>G (p.Ile930Met)
|
rs587779155
|
|
NM_000251.3(MSH2):c.2797dup (p.Thr933fs)
|
rs587779156
|
|
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met)
|
rs587779969
|
|
NM_000251.3(MSH2):c.2804G>T (p.Ter935Leu)
|
rs876658335
|
|
NM_000251.3(MSH2):c.280_281insG (p.Leu94fs)
|
|
|
NM_000251.3(MSH2):c.283dup (p.Val95fs)
|
|
|
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter)
|
rs63750970
|
|
NM_000251.3(MSH2):c.28C>T (p.Gln10Ter)
|
rs63751099
|
|
NM_000251.3(MSH2):c.294T>A (p.Tyr98Ter)
|
rs763872353
|
|
NM_000251.3(MSH2):c.294T>G (p.Tyr98Ter)
|
|
|
NM_000251.3(MSH2):c.295A>T (p.Arg99Ter)
|
|
|
NM_000251.3(MSH2):c.29dup (p.Leu11fs)
|
rs63750589
|
|
NM_000251.3(MSH2):c.301G>T (p.Glu101Ter)
|
rs63750318
|
|
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del)
|
rs587779157
|
|
NM_000251.3(MSH2):c.301del (p.Glu101fs)
|
|
|
NM_000251.3(MSH2):c.308A>G (p.Tyr103Cys)
|
rs63751173
|
|
NM_000251.3(MSH2):c.308del (p.Tyr103fs)
|
|
|
NM_000251.3(MSH2):c.309T>A (p.Tyr103Ter)
|
|
|
NM_000251.3(MSH2):c.320C>G (p.Ala107Gly)
|
rs876658935
|
|
NM_000251.3(MSH2):c.320C>T (p.Ala107Val)
|
rs876658935
|
|
NM_000251.3(MSH2):c.321del (p.Gly108fs)
|
rs1573436948
|
|
NM_000251.3(MSH2):c.323G>T (p.Gly108Val)
|
rs1183145967
|
|
NM_000251.3(MSH2):c.328A>C (p.Lys110Gln)
|
rs587779970
|
|
NM_000251.3(MSH2):c.329del (p.Lys110fs)
|
|
|
NM_000251.3(MSH2):c.32T>A (p.Leu11Ter)
|
|
|
NM_000251.3(MSH2):c.331del (p.Ala111fs)
|
|
|
NM_000251.3(MSH2):c.332C>T (p.Ala111Val)
|
rs1672561306
|
|
NM_000251.3(MSH2):c.332dup (p.Ser112fs)
|
|
|
NM_000251.3(MSH2):c.337A>T (p.Lys113Ter)
|
rs1573437064
|
|
NM_000251.3(MSH2):c.340G>T (p.Glu114Ter)
|
rs878853815
|
|
NM_000251.3(MSH2):c.344del (p.Asn115fs)
|
rs63751195
|
|
NM_000251.3(MSH2):c.347_350del (p.Asp116fs)
|
rs63750501
|
|
NM_000251.3(MSH2):c.34G>T (p.Glu12Ter)
|
rs917968387
|
|
NM_000251.3(MSH2):c.34dup (p.Glu12fs)
|
rs63750614
|
|
NM_000251.3(MSH2):c.350G>A (p.Trp117Ter)
|
rs786202083
|
|
NM_000251.3(MSH2):c.351G>A (p.Trp117Ter)
|
rs1558457486
|
|
NM_000251.3(MSH2):c.352_358del (p.Tyr118fs)
|
rs879254025
|
|
NM_000251.3(MSH2):c.352dup (p.Tyr118fs)
|
rs587779159
|
|
NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter)
|
rs1553350250
|
|
NM_000251.3(MSH2):c.356T>A (p.Leu119Ter)
|
rs1573437173
|
|
NM_000251.3(MSH2):c.35A>C (p.Glu12Ala)
|
rs1553348722
|
|
NM_000251.3(MSH2):c.362del (p.Tyr121fs)
|
rs1114167831
|
|
NM_000251.3(MSH2):c.363T>A (p.Tyr121Ter)
|
|
|
NM_000251.3(MSH2):c.363T>G (p.Tyr121Ter)
|
rs63750458
|
|
NM_000251.3(MSH2):c.363_366dup (p.Ala123Ter)
|
|
|
NM_000251.3(MSH2):c.364A>G (p.Lys122Glu)
|
rs374127044
|
|
NM_000251.3(MSH2):c.366+1G>A
|
rs267607924
|
|
NM_000251.3(MSH2):c.366+1G>C
|
|
|
NM_000251.3(MSH2):c.366+1G>T
|
rs267607924
|
|
NM_000251.3(MSH2):c.366+25C>T
|
rs764158568
|
|
NM_000251.3(MSH2):c.366+2T>C
|
rs1558457533
|
|
NM_000251.3(MSH2):c.367-1G>A
|
rs267607925
|
|
NM_000251.3(MSH2):c.367-2_645+432del
|
rs2104016448
|
|
NM_000251.3(MSH2):c.367-2_645+742del
|
|
|
NM_000251.3(MSH2):c.367-371_646-513del
|
|
|
NM_000251.3(MSH2):c.367-3T>A
|
|
|
NM_000251.3(MSH2):c.367-452_646-722del
|
|
|
NM_000251.3(MSH2):c.367-466_645+658del
|
|
|
NM_000251.3(MSH2):c.367-681_646-956del
|
|
|
NM_000251.3(MSH2):c.368del (p.Ala123fs)
|
rs63750210
|
|
NM_000251.3(MSH2):c.374C>T (p.Pro125Leu)
|
rs876659113
|
|
NM_000251.3(MSH2):c.376G>C (p.Gly126Arg)
|
rs767371843
|
|
NM_000251.3(MSH2):c.377del (p.Gly126fs)
|
rs2104017390
|
|
NM_000251.3(MSH2):c.380_381del (p.Asn127fs)
|
rs63751227
|
|
NM_000251.3(MSH2):c.380del (p.Asn127fs)
|
|
|
NM_000251.3(MSH2):c.383T>G (p.Leu128Arg)
|
rs730881768
|
|
NM_000251.3(MSH2):c.385_388del (p.Gln130fs)
|
|
|
NM_000251.3(MSH2):c.387_388del (p.Gln130fs)
|
rs63750924
|
|
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)
|
rs1060501989
|
|
NM_000251.3(MSH2):c.388_389del (p.Gln130fs)
|
rs63750704
|
|
NM_000251.3(MSH2):c.394_395insTT (p.Glu132fs)
|
|
|
NM_000251.3(MSH2):c.399del (p.Asp133fs)
|
rs63751290
|
|
NM_000251.3(MSH2):c.39C>G (p.Ser13Arg)
|
rs1060502015
|
|
NM_000251.3(MSH2):c.403C>G (p.Leu135Val)
|
rs193096019
|
|
NM_000251.3(MSH2):c.403C>T (p.Leu135Phe)
|
rs193096019
|
|
NM_000251.3(MSH2):c.408del (p.Phe136fs)
|
rs63750408
|
|
NM_000251.3(MSH2):c.413dup (p.Asn138fs)
|
|
|
NM_000251.3(MSH2):c.416del (p.Asn139fs)
|
rs63750401
|
|
NM_000251.3(MSH2):c.420dup (p.Met141fs)
|
rs1114167810
|
|
NM_000251.3(MSH2):c.421A>G (p.Met141Val)
|
rs193922374
|
|
NM_000251.3(MSH2):c.421_422del (p.Met141fs)
|
rs1553350680
|
|
NM_000251.3(MSH2):c.425C>A (p.Ser142Ter)
|
rs63750910
|
|
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)
|
rs63750910
|
|
NM_000251.3(MSH2):c.432C>T (p.Ser144=)
|
rs1558459072
|
|
NM_000251.3(MSH2):c.433A>G (p.Ile145Val)
|
rs876659264
|
|
NM_000251.3(MSH2):c.443T>A (p.Val148Glu)
|
rs1553350714
|
|
NM_000251.3(MSH2):c.443del (p.Val148fs)
|
rs1553350721
|
|
NM_000251.3(MSH2):c.445_448del (p.Gly149fs)
|
|
|
NM_000251.3(MSH2):c.448G>T (p.Val150Phe)
|
rs1558459157
|
|
NM_000251.3(MSH2):c.448_449del (p.Gly149_Val150insTer)
|
|
|
NM_000251.3(MSH2):c.448_452del (p.Val150fs)
|
|
|
NM_000251.3(MSH2):c.450del (p.Met152fs)
|
|
|
NM_000251.3(MSH2):c.454del (p.Met152fs)
|
rs63751449
|
|
NM_000251.3(MSH2):c.454dup (p.Met152fs)
|
rs63751449
|
|
NM_000251.3(MSH2):c.459del (p.Ala154fs)
|
rs2104023773
|
|
NM_000251.3(MSH2):c.463del (p.Val155fs)
|
rs1672664863
|
|
NM_000251.3(MSH2):c.464T>A (p.Val155Asp)
|
rs876658188
|
|
NM_000251.3(MSH2):c.464T>C (p.Val155Ala)
|
rs876658188
|
|
NM_000251.3(MSH2):c.465_466delinsA (p.Asp156fs)
|
rs1114167884
|
|
NM_000251.3(MSH2):c.466del (p.Asp156fs)
|
rs1573440880
|
|
NM_000251.3(MSH2):c.470G>C (p.Gly157Ala)
|
rs765489269
|
|
NM_000251.3(MSH2):c.472C>T (p.Gln158Ter)
|
rs63751226
|
|
NM_000251.3(MSH2):c.478C>T (p.Gln160Ter)
|
rs63751426
|
|
NM_000251.3(MSH2):c.478_479del (p.Gln160fs)
|
rs2104025532
|
|
NM_000251.3(MSH2):c.47A>C (p.Glu16Ala)
|
rs745771647
|
|
NM_000251.3(MSH2):c.480G>T (p.Gln160His)
|
rs1558459273
|
|
NM_000251.3(MSH2):c.482T>A (p.Val161Asp)
|
rs63750126
|
|
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)
|
rs63750624
|
|
NM_000251.3(MSH2):c.486_487del (p.Val163fs)
|
|
|
NM_000251.3(MSH2):c.488T>A (p.Val163Asp)
|
rs63750214
|
|
NM_000251.3(MSH2):c.488T>G (p.Val163Gly)
|
rs63750214
|
|
NM_000251.3(MSH2):c.490G>A (p.Gly164Arg)
|
rs63750582
|
|
NM_000251.3(MSH2):c.490G>T (p.Gly164Trp)
|
rs63750582
|
|
NM_000251.3(MSH2):c.491G>A (p.Gly164Glu)
|
rs786204082
|
|
NM_000251.3(MSH2):c.491delinsAT (p.Gly164fs)
|
|
|
NM_000251.3(MSH2):c.493T>G (p.Tyr165Asp)
|
rs587779163
|
|
NM_000251.3(MSH2):c.493_499del (p.Tyr165fs)
|
|
|
NM_000251.3(MSH2):c.495T>G (p.Tyr165Ter)
|
rs63749949
|
|
NM_000251.3(MSH2):c.496G>C (p.Val166Leu)
|
|
|
NM_000251.3(MSH2):c.497dup (p.Asp167fs)
|
|
|
NM_000251.3(MSH2):c.506_508delinsCAA (p.Ile169_Gln170delinsThrLys)
|
rs2104027960
|
|
NM_000251.3(MSH2):c.506_509del (p.Ile169fs)
|
rs63751013
|
|
NM_000251.3(MSH2):c.507A>G (p.Ile169Met)
|
rs748762580
|
|
NM_000251.3(MSH2):c.508C>T (p.Gln170Ter)
|
rs63750843
|
|
NM_000251.3(MSH2):c.511_583dup (p.Gly195delinsGluGluThrArgThrValTer)
|
rs1553350789
|
|
NM_000251.3(MSH2):c.513del (p.Lys172fs)
|
rs63750933
|
|
NM_000251.3(MSH2):c.514A>T (p.Lys172Ter)
|
|
|
NM_000251.3(MSH2):c.518T>G (p.Leu173Arg)
|
rs63750070
|
|
NM_000251.3(MSH2):c.518del (p.Leu173fs)
|
rs63750069
|
|
NM_000251.3(MSH2):c.524T>C (p.Leu175Pro)
|
rs63751291
|
|
NM_000251.3(MSH2):c.524del (p.Leu175fs)
|
|
|
NM_000251.3(MSH2):c.525_532del (p.Cys176fs)
|
rs1114167877
|
|
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer)
|
rs587779164
|
|
NM_000251.3(MSH2):c.529G>T (p.Glu177Ter)
|
rs63750382
|
|
NM_000251.3(MSH2):c.52_67del (p.Gly18fs)
|
|
|
NM_000251.3(MSH2):c.530_531del (p.Glu177fs)
|
rs63750551
|
|
NM_000251.3(MSH2):c.530_539del (p.Glu177fs)
|
|
|
NM_000251.3(MSH2):c.535_536del (p.Phe178_Pro179insTer)
|
rs1114167812
|
|
NM_000251.3(MSH2):c.536C>T (p.Pro179Leu)
|
rs902336078
|
|
NM_000251.3(MSH2):c.53G>A (p.Gly18Asp)
|
rs1200418561
|
|
NM_000251.3(MSH2):c.547C>T (p.Gln183Ter)
|
rs63750037
|
|
NM_000251.3(MSH2):c.551del (p.Phe184fs)
|
rs267607928
|
|
NM_000251.3(MSH2):c.557A>C (p.Asn186Thr)
|
|
|
NM_000251.3(MSH2):c.560T>C (p.Leu187Pro)
|
rs63751444
|
|
NM_000251.3(MSH2):c.560T>G (p.Leu187Arg)
|
rs63751444
|
|
NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del)
|
rs63750088
|
|
NM_000251.3(MSH2):c.562G>A (p.Glu188Lys)
|
rs1064795622
|
|
NM_000251.3(MSH2):c.562G>C (p.Glu188Gln)
|
rs1064795622
|
|
NM_000251.3(MSH2):c.563del (p.Glu188fs)
|
rs1114167885
|
|
NM_000251.3(MSH2):c.568CTC[1] (p.Leu191del)
|
rs587779165
|
|
NM_000251.3(MSH2):c.568_569delinsG (p.Leu190fs)
|
|
|
NM_000251.3(MSH2):c.56T>C (p.Phe19Ser)
|
rs1320061495
|
|
NM_000251.3(MSH2):c.571del (p.Leu191fs)
|
|
|
NM_000251.3(MSH2):c.576C>G (p.Ile192Met)
|
rs864622381
|
|
NM_000251.3(MSH2):c.577C>T (p.Gln193Ter)
|
rs63751326
|
|
NM_000251.3(MSH2):c.587del (p.Pro196fs)
|
rs63750682
|
|
NM_000251.3(MSH2):c.58G>C (p.Val20Leu)
|
rs1198168331
|
|
NM_000251.3(MSH2):c.592G>A (p.Glu198Lys)
|
rs587779166
|
|
NM_000251.3(MSH2):c.592G>T (p.Glu198Ter)
|
rs587779166
|
|
NM_000251.3(MSH2):c.592dup (p.Glu198fs)
|
rs63750786
|
|
NM_000251.3(MSH2):c.593A>G (p.Glu198Gly)
|
rs63750327
|
|
NM_000251.3(MSH2):c.594_596dup (p.Cys199Ter)
|
|
|
NM_000251.3(MSH2):c.595T>C (p.Cys199Arg)
|
rs63751110
|
|
NM_000251.3(MSH2):c.596G>A (p.Cys199Tyr)
|
rs63751136
|
|
NM_000251.3(MSH2):c.599T>A (p.Val200Asp)
|
rs587779167
|
|
NM_000251.3(MSH2):c.606C>G (p.Pro202=)
|
rs63750600
|
|
NM_000251.3(MSH2):c.606C>T (p.Pro202=)
|
rs63750600
|
|
NM_000251.3(MSH2):c.607G>T (p.Gly203Ter)
|
|
|
NM_000251.3(MSH2):c.610G>T (p.Gly204Ter)
|
rs63750574
|
|
NM_000251.3(MSH2):c.613G>T (p.Glu205Ter)
|
rs63749984
|
|
NM_000251.3(MSH2):c.616_617del (p.Thr206fs)
|
|
|
NM_000251.3(MSH2):c.616dup (p.Thr206fs)
|
rs63750995
|
|
NM_000251.3(MSH2):c.628_629del (p.Met210fs)
|
rs1553350966
|
|
NM_000251.3(MSH2):c.633del (p.Lys212fs)
|
rs1114167821
|
|
NM_000251.3(MSH2):c.636dup (p.Leu213fs)
|
rs1573442039
|
|
NM_000251.3(MSH2):c.638T>G (p.Leu213Arg)
|
rs1553350974
|
|
NM_000251.3(MSH2):c.638_639del (p.Leu213fs)
|
rs63751622
|
|
NM_000251.3(MSH2):c.640_645+1del
|
|
|
NM_000251.3(MSH2):c.642_645+3delinsCAAATTG
|
|
|
NM_000251.3(MSH2):c.643C>T (p.Gln215Ter)
|
rs63751274
|
|
NM_000251.3(MSH2):c.643_644del (p.Gln215fs)
|
rs1573442100
|
|
NM_000251.3(MSH2):c.643_646del (p.Arg214_Gln215insTer)
|
rs63751695
|
|
NM_000251.3(MSH2):c.644del (p.Gln215fs)
|
rs1558459885
|
|
NM_000251.3(MSH2):c.645+1G>A
|
rs267607689
|
|
NM_000251.3(MSH2):c.645+1G>T
|
rs267607689
|
|
NM_000251.3(MSH2):c.645+2T>C
|
rs876658996
|
|
NM_000251.3(MSH2):c.646-2A>C
|
rs587779169
|
|
NM_000251.3(MSH2):c.646-2A>G
|
rs587779169
|
|
NM_000251.3(MSH2):c.646-3T>G
|
rs267607930
|
|
NM_000251.3(MSH2):c.646-3_654del
|
rs267607929
|
|
NM_000251.3(MSH2):c.646-5_655del
|
|
|
NM_000251.3(MSH2):c.647T>C (p.Ile216Thr)
|
rs786203108
|
|
NM_000251.3(MSH2):c.647dup (p.Ile217fs)
|
|
|
NM_000251.3(MSH2):c.64T>A (p.Phe22Ile)
|
rs1189127007
|
|
NM_000251.3(MSH2):c.650_654del (p.Ile217fs)
|
rs63751602
|
|
NM_000251.3(MSH2):c.652C>A (p.Gln218Lys)
|
|
|
NM_000251.3(MSH2):c.652C>T (p.Gln218Ter)
|
rs587779170
|
|
NM_000251.3(MSH2):c.655dup (p.Arg219fs)
|
rs1558461615
|
|
NM_000251.3(MSH2):c.656_664delinsATAGATAATTTCT (p.Arg219_Ile222delinsAsnArgTer)
|
|
|
NM_000251.3(MSH2):c.657_658del (p.Gly220fs)
|
|
|
NM_000251.3(MSH2):c.659_661delinsAAT (p.Gly220_Gly221delinsGluTer)
|
|
|
NM_000251.3(MSH2):c.66C>G (p.Phe22Leu)
|
rs200632093
|
|
NM_000251.3(MSH2):c.672C>G (p.Ile224Met)
|
rs587779171
|
|
NM_000251.3(MSH2):c.674del (p.Thr225fs)
|
|
|
NM_000251.3(MSH2):c.675_679delinsTAAT (p.Glu226fs)
|
rs587779172
|
|
NM_000251.3(MSH2):c.679A>T (p.Arg227Ter)
|
|
|
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)
|
rs372619120
|
|
NM_000251.3(MSH2):c.680_683del (p.Arg227fs)
|
rs587782537
|
|
NM_000251.3(MSH2):c.685A>T (p.Lys229Ter)
|
rs587779173
|
|
NM_000251.3(MSH2):c.686_687del (p.Lys229fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.687_688insT (p.Ala230fs)
|
rs63750364
|
|
NM_000251.3(MSH2):c.687del (p.Ala230fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.687dup (p.Ala230fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.68_69del (p.Phe23fs)
|
|
|
NM_000251.3(MSH2):c.691del (p.Asp231fs)
|
rs587779174
|
|
NM_000251.3(MSH2):c.696_697del (p.Ser233fs)
|
rs63750426
|
|
NM_000251.3(MSH2):c.698C>G (p.Ser233Cys)
|
rs587781724
|
|
NM_000251.3(MSH2):c.698C>T (p.Ser233Phe)
|
rs587781724
|
|
NM_000251.3(MSH2):c.699del (p.Thr234fs)
|
|
|
NM_000251.3(MSH2):c.6G>T (p.Ala2=)
|
rs368270856
|
|
NM_000251.3(MSH2):c.704A>C (p.Lys235Thr)
|
rs2104103015
|
|
NM_000251.3(MSH2):c.704_705del (p.Lys235fs)
|
rs281864944
|
|
NM_000251.3(MSH2):c.705del (p.Asp236fs)
|
rs281864944
|
|
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)
|
rs587779976
|
|
NM_000251.3(MSH2):c.711_714del (p.Tyr238fs)
|
rs63751288
|
|
NM_000251.3(MSH2):c.712del (p.Tyr238fs)
|
|
|
NM_000251.3(MSH2):c.714T>G (p.Tyr238Ter)
|
rs369670665
|
|
NM_000251.3(MSH2):c.715C>T (p.Gln239Ter)
|
rs63750488
|
|
NM_000251.3(MSH2):c.715dup (p.Gln239fs)
|
|
|
NM_000251.3(MSH2):c.717_721delinsTTA (p.Gln239fs)
|
rs63750690
|
|
NM_000251.3(MSH2):c.718del (p.Asp240fs)
|
rs2104104410
|
|
NM_000251.3(MSH2):c.71dup (p.Met26fs)
|
rs587779175
|
|
NM_000251.3(MSH2):c.725dup (p.Asn242fs)
|
rs587779176
|
|
NM_000251.3(MSH2):c.731T>A (p.Leu244Ter)
|
|
|
NM_000251.3(MSH2):c.731_734dup (p.Leu245fs)
|
|
|
NM_000251.3(MSH2):c.731del (p.Leu244fs)
|
rs876660655
|
|
NM_000251.3(MSH2):c.735dup (p.Lys246fs)
|
rs63750107
|
|
NM_000251.3(MSH2):c.736A>T (p.Lys246Ter)
|
rs63750881
|
|
NM_000251.3(MSH2):c.738del (p.Gly247fs)
|
rs2104106456
|
|
NM_000251.3(MSH2):c.73G>T (p.Gly25Cys)
|
rs746259256
|
|
NM_000251.3(MSH2):c.73_74insC (p.Gly25fs)
|
rs587779177
|
|
NM_000251.3(MSH2):c.743A>G (p.Lys248Arg)
|
rs1064794704
|
|
NM_000251.3(MSH2):c.746_747del (p.Lys249fs)
|
|
|
NM_000251.3(MSH2):c.746del (p.Lys249fs)
|
rs63749832
|
|
NM_000251.3(MSH2):c.746dup (p.Glu251fs)
|
rs63749832
|
|
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)
|
rs864622183
|
|
NM_000251.3(MSH2):c.748_751del (p.Gly250fs)
|
|
|
NM_000251.3(MSH2):c.74del (p.Gly25fs)
|
|
|
NM_000251.3(MSH2):c.751G>A (p.Glu251Lys)
|
rs147389443
|
|
NM_000251.3(MSH2):c.754C>T (p.Gln252Ter)
|
rs63750347
|
|
NM_000251.3(MSH2):c.755A>C (p.Gln252Pro)
|
rs370906735
|
|
NM_000251.3(MSH2):c.758dup (p.Met253fs)
|
|
|
NM_000251.3(MSH2):c.759G>C (p.Met253Ile)
|
|
|
NM_000251.3(MSH2):c.759_762del (p.Met253fs)
|
rs267607931
|
|
NM_000251.3(MSH2):c.759del (p.Met253fs)
|
rs63751160
|
|
NM_000251.3(MSH2):c.75del (p.Met26fs)
|
rs1553348760
|
|
NM_000251.3(MSH2):c.761del (p.Asn254fs)
|
rs587779179
|
|
NM_000251.3(MSH2):c.762_763del (p.Asn254fs)
|
|
|
NM_000251.3(MSH2):c.762dup (p.Ser255Ter)
|
|
|
NM_000251.3(MSH2):c.763_766delinsTT (p.Ser255fs)
|
rs63750329
|
|
NM_000251.3(MSH2):c.767_768dup (p.Val257fs)
|
rs587779181
|
|
NM_000251.3(MSH2):c.773T>A (p.Leu258Ter)
|
|
|
NM_000251.3(MSH2):c.778G>T (p.Glu260Ter)
|
|
|
NM_000251.3(MSH2):c.782_783insA (p.Met261fs)
|
rs786204144
|
|
NM_000251.3(MSH2):c.784G>C (p.Glu262Gln)
|
rs1553351739
|
|
NM_000251.3(MSH2):c.788_789del (p.Asn263fs)
|
rs63751614
|
|
NM_000251.3(MSH2):c.790C>T (p.Gln264Ter)
|
rs878853824
|
|
NM_000251.3(MSH2):c.792+10_943-448del
|
|
|
NM_000251.3(MSH2):c.792+1G>A
|
rs267607934
|
|
NM_000251.3(MSH2):c.792+1G>C
|
rs267607934
|
|
NM_000251.3(MSH2):c.792+1G>T
|
|
|
NM_000251.3(MSH2):c.792+1_792+2inv
|
|
|
NM_000251.3(MSH2):c.792+1del
|
rs1064794155
|
|
NM_000251.3(MSH2):c.792+2T>C
|
rs587782408
|
|
NM_000251.3(MSH2):c.792+2T>G
|
rs587782408
|
|
NM_000251.3(MSH2):c.792G>C (p.Gln264His)
|
rs587779183
|
|
NM_000251.3(MSH2):c.793-10T>G
|
rs1060502016
|
|
NM_000251.3(MSH2):c.793-1G>A
|
rs863225397
|
|
NM_000251.3(MSH2):c.793-1G>C
|
|
|
NM_000251.3(MSH2):c.793-1G>T
|
|
|
NM_000251.3(MSH2):c.793-23G>A
|
rs17224255
|
|
NM_000251.3(MSH2):c.793-2A>C
|
rs267607933
|
|
NM_000251.3(MSH2):c.793-2A>G
|
rs267607933
|
|
NM_000251.3(MSH2):c.793-2A>T
|
|
|
NM_000251.3(MSH2):c.793-6_942+450del
|
rs1553352366
|
|
NM_000251.3(MSH2):c.793G>T (p.Val265Phe)
|
rs1553352377
|
|
NM_000251.3(MSH2):c.795del (p.Ala266fs)
|
rs63749902
|
|
NM_000251.3(MSH2):c.7G>A (p.Val3Met)
|
rs1257347271
|
|
NM_000251.3(MSH2):c.7G>T (p.Val3Leu)
|
rs1257347271
|
|
NM_000251.3(MSH2):c.7del (p.Val3fs)
|
|
|
NM_000251.3(MSH2):c.802_803insGT (p.Ser268fs)
|
|
|
NM_000251.3(MSH2):c.803C>A (p.Ser268Ter)
|
rs563410947
|
|
NM_000251.3(MSH2):c.803C>G (p.Ser268Ter)
|
|
|
NM_000251.3(MSH2):c.806C>A (p.Ser269Ter)
|
rs63750058
|
|
NM_000251.3(MSH2):c.809T>C (p.Leu270Pro)
|
rs1573451078
|
|
NM_000251.3(MSH2):c.809T>G (p.Leu270Arg)
|
|
|
NM_000251.3(MSH2):c.810_811del (p.Ser271fs)
|
rs63751133
|
|
NM_000251.3(MSH2):c.811_814del (p.Ser271fs)
|
rs587779185
|
|
NM_000251.3(MSH2):c.812_813del (p.Ser271fs)
|
rs1573451108
|
|
NM_000251.3(MSH2):c.817del (p.Ala272_Val273insTer)
|
rs1672945766
|
|
NM_000251.3(MSH2):c.819_821delinsTG (p.Ile274fs)
|
rs864622261
|
|
NM_000251.3(MSH2):c.82G>T (p.Glu28Ter)
|
rs63751246
|
|
NM_000251.3(MSH2):c.82del (p.Glu28fs)
|
rs587779188
|
|
NM_000251.3(MSH2):c.830T>A (p.Leu277Ter)
|
rs786203424
|
|
NM_000251.3(MSH2):c.830T>G (p.Leu277Ter)
|
rs786203424
|
|
NM_000251.3(MSH2):c.832G>T (p.Glu278Ter)
|
rs1558464008
|
|
NM_000251.3(MSH2):c.836del (p.Leu279fs)
|
rs63751159
|
|
NM_000251.3(MSH2):c.839T>G (p.Leu280Ter)
|
|
|
NM_000251.3(MSH2):c.839del (p.Leu280fs)
|
rs63750091
|
|
NM_000251.3(MSH2):c.839dup (p.Leu280fs)
|
rs63750091
|
|
NM_000251.3(MSH2):c.840dup (p.Ser281fs)
|
|
|
NM_000251.3(MSH2):c.842C>A (p.Ser281Ter)
|
rs63749991
|
|
NM_000251.3(MSH2):c.842C>G (p.Ser281Ter)
|
rs63749991
|
|
NM_000251.3(MSH2):c.845A>G (p.Asp282Gly)
|
rs587779978
|
|
NM_000251.3(MSH2):c.845_848del (p.Asp282fs)
|
rs1553352462
|
|
NM_000251.3(MSH2):c.850dup (p.Ser284fs)
|
rs1114167860
|
|
NM_000251.3(MSH2):c.854del (p.Asn285fs)
|
rs63750701
|
|
NM_000251.3(MSH2):c.859G>T (p.Gly287Ter)
|
rs63750276
|
|
NM_000251.3(MSH2):c.860dup (p.Gln288fs)
|
rs193922375
|
|
NM_000251.3(MSH2):c.862C>T (p.Gln288Ter)
|
rs63750097
|
|
NM_000251.3(MSH2):c.863del (p.Gln288fs)
|
rs587779189
|
|
NM_000251.3(MSH2):c.866_867dup (p.Glu290fs)
|
rs1672951706
|
|
NM_000251.3(MSH2):c.867del (p.Phe289fs)
|
rs1672951706
|
|
NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)
|
rs587779190
|
|
NM_000251.3(MSH2):c.870_874del (p.Glu290fs)
|
rs1114167848
|
|
NM_000251.3(MSH2):c.871_872dup (p.Leu291_Thr292insTer)
|
|
|
NM_000251.3(MSH2):c.871del (p.Glu290_Leu291insTer)
|
rs1064794809
|
|
NM_000251.3(MSH2):c.873_876del (p.Thr292fs)
|
rs587779191
|
|
NM_000251.3(MSH2):c.876dup (p.Thr293fs)
|
rs1553352505
|
|
NM_000251.3(MSH2):c.87_90del (p.Thr31fs)
|
rs1060502000
|
|
NM_000251.3(MSH2):c.880_881insA (p.Phe294fs)
|
|
|
NM_000251.3(MSH2):c.881_882del (p.Thr293_Phe294insTer)
|
rs63751115
|
|
NM_000251.3(MSH2):c.882del (p.Phe294fs)
|
rs63751115
|
|
NM_000251.3(MSH2):c.887_891delinsACTTTTTCAGTATATGACTACTTTTGACTACTTTTT (p.Phe296_Ser297delinsTyrPhePheSerIleTer)
|
rs1573451662
|
|
NM_000251.3(MSH2):c.888C>G (p.Phe296Leu)
|
rs876659918
|
|
NM_000251.3(MSH2):c.888del (p.Phe296fs)
|
rs587779192
|
|
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)
|
rs63750934
|
|
NM_000251.3(MSH2):c.896A>G (p.Tyr299Cys)
|
rs1558464315
|
|
NM_000251.3(MSH2):c.897T>A (p.Tyr299Ter)
|
|
|
NM_000251.3(MSH2):c.897T>G (p.Tyr299Ter)
|
rs879254104
|
|
NM_000251.3(MSH2):c.898A>G (p.Met300Val)
|
rs730881753
|
|
NM_000251.3(MSH2):c.898_899dup (p.Met300fs)
|
rs63750885
|
|
NM_000251.3(MSH2):c.89C>T (p.Pro30Leu)
|
rs757892928
|
|
NM_000251.3(MSH2):c.89del (p.Pro30fs)
|
|
|
NM_000251.3(MSH2):c.901A>T (p.Lys301Ter)
|
rs63749915
|
|
NM_000251.3(MSH2):c.904T>A (p.Leu302Met)
|
rs876660115
|
|
NM_000251.3(MSH2):c.905T>A (p.Leu302Ter)
|
rs63749914
|
|
NM_000251.3(MSH2):c.912dup (p.Ala305fs)
|
rs863224833
|
|
NM_000251.3(MSH2):c.913dup (p.Ala305fs)
|
rs786203604
|
|
NM_000251.3(MSH2):c.914_923del (p.Ala305fs)
|
rs1672955848
|
|
NM_000251.3(MSH2):c.915_922dup (p.Arg308fs)
|
rs63750046
|
|
NM_000251.3(MSH2):c.920_923del (p.Val307fs)
|
rs2104179024
|
|
NM_000251.3(MSH2):c.922dup (p.Arg308fs)
|
|
|
NM_000251.3(MSH2):c.925G>C (p.Ala309Pro)
|
rs781257094
|
|
NM_000251.3(MSH2):c.929T>C (p.Leu310Pro)
|
rs63750640
|
|
NM_000251.3(MSH2):c.929T>G (p.Leu310Arg)
|
rs63750640
|
|
NM_000251.3(MSH2):c.932_933insGA (p.Asn311fs)
|
|
|
NM_000251.3(MSH2):c.932del (p.Asn311fs)
|
rs587779979
|
|
NM_000251.3(MSH2):c.932dup (p.Asn311fs)
|
|
|
NM_000251.3(MSH2):c.934_938dup (p.Gln314fs)
|
|
|
NM_000251.3(MSH2):c.934del (p.Leu312fs)
|
rs267607937
|
|
NM_000251.3(MSH2):c.939del (p.Gln314fs)
|
rs796532309
|
|
NM_000251.3(MSH2):c.93dup (p.Thr32fs)
|
|
|
NM_000251.3(MSH2):c.940C>T (p.Gln314Ter)
|
rs1114167845
|
|
NM_000251.3(MSH2):c.940_942+2del
|
|
|
NM_000251.3(MSH2):c.942+17_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+17_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+1G>A
|
rs587779193
|
|
NM_000251.3(MSH2):c.942+1G>C
|
|
|
NM_000251.3(MSH2):c.942+1G>T
|
rs587779193
|
|
NM_000251.3(MSH2):c.942+1del
|
rs1194793421
|
|
NM_000251.3(MSH2):c.942+22_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+22_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+23_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+24_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+25_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+26_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+27_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+28_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+2T>C
|
rs587779195
|
|
NM_000251.3(MSH2):c.942+2T>G
|
rs587779195
|
|
NM_000251.3(MSH2):c.942+2del
|
rs587779194
|
|
NM_000251.3(MSH2):c.942+3A>C
|
rs193922376
|
|
NM_000251.3(MSH2):c.942+3A>G
|
rs193922376
|
|
NM_000251.3(MSH2):c.942+7_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942G>A (p.Gln314=)
|
rs587779197
|
|
NM_000251.3(MSH2):c.943-1G>A
|
rs12476364
|
|
NM_000251.3(MSH2):c.943-1G>C
|
rs12476364
|
|
NM_000251.3(MSH2):c.943-1G>T
|
rs12476364
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
NM_000251.3(MSH2):c.943-51_988del
|
|
|
NM_000251.3(MSH2):c.943-8_943del
|
|
|
NM_000251.3(MSH2):c.943G>T (p.Gly315Cys)
|
rs2104242161
|
|
NM_000251.3(MSH2):c.948del (p.Val317fs)
|
|
|
NM_000251.3(MSH2):c.94_103del (p.Thr32fs)
|
rs63750728
|
|
NM_000251.3(MSH2):c.952G>T (p.Glu318Ter)
|
|
|
NM_000251.3(MSH2):c.958_959del (p.Thr320fs)
|
rs1673067879
|
|
NM_000251.3(MSH2):c.958dup (p.Thr320fs)
|
rs63749852
|
|
NM_000251.3(MSH2):c.959C>G (p.Thr320Ser)
|
rs1064794010
|
|
NM_000251.3(MSH2):c.959_962del (p.Thr320fs)
|
rs1114167825
|
|
NM_000251.3(MSH2):c.95C>T (p.Thr32Ile)
|
|
|
NM_000251.3(MSH2):c.961A>G (p.Thr321Ala)
|
rs587781550
|
|
NM_000251.3(MSH2):c.965G>T (p.Gly322Val)
|
rs4987188
|
|
NM_000251.3(MSH2):c.965dup (p.Ser323fs)
|
|
|
NM_000251.3(MSH2):c.968C>T (p.Ser323Phe)
|
rs63750732
|
|
NM_000251.3(MSH2):c.968_971dup (p.Gln324fs)
|
rs1673070318
|
|
NM_000251.3(MSH2):c.970C>T (p.Gln324Ter)
|
rs63750502
|
|
NM_000251.3(MSH2):c.970_971del (p.Gln324fs)
|
rs63751044
|
|
NM_000251.3(MSH2):c.973dup (p.Ser325fs)
|
rs63749945
|
|
NM_000251.3(MSH2):c.97A>G (p.Thr33Ala)
|
rs63751107
|
|
NM_000251.3(MSH2):c.982G>A (p.Ala328Thr)
|
rs753237286
|
|
NM_000251.3(MSH2):c.989T>C (p.Leu330Pro)
|
rs63750630
|
|
NM_000251.3(MSH2):c.989T>G (p.Leu330Arg)
|
|
|
NM_000251.3(MSH2):c.989dup (p.Asn331fs)
|
rs1114167813
|
|
NM_000251.3(MSH2):c.997T>C (p.Cys333Arg)
|
rs63750468
|
|
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)
|
rs63750828
|
|
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe)
|
rs63750828
|
|
NM_000251.3(MSH2):c.998_999del (p.Lys332_Cys333insTer)
|
rs2104247018
|
|
NM_000251.3(MSH2):c.998_999dup (p.Lys334fs)
|
|
|
NM_000251.3(MSH2):c.998del (p.Cys333fs)
|
|
|
NM_000251.3(MSH2):c.999T>G (p.Cys333Trp)
|
rs1553353167
|
|
NM_000251.3(MSH2):c.999dup (p.Lys334Ter)
|
rs2104247370
|
|
NM_000251.3(MSH2):c.[2635-3C>T;2635-5T>C]
|
|
|
NM_000251.3:c.(1662+1_1663-1)_(2805+1_?)del
|
|
|
NM_000251.3:c.(1759+1_1760-1)_(2458+1_2459-1)del
|
|
|
NM_000321.3(RB1):c.273T>A (p.Tyr91Ter)
|
rs750136284
|
|
NM_000321.3(RB1):c.607+1G>A
|
rs587776789
|
|
NM_000534.5(PMS1):c.440G>A (p.Arg147Lys)
|
rs113137368
|
|
NM_000535.5(PMS2):c.(?_-87)_(*160_?)del
|
|
|
NM_000535.5(PMS2):c.(?_-87)_1144+?del
|
|
|
NM_000535.5(PMS2):c.(?_-87)_23+?del
|
|
|
NM_000535.5(PMS2):c.(?_989-5)_(2445+5_?)del
|
|
|
NM_000535.5(PMS2):c.-101A>G
|
rs587779325
|
|
NM_000535.5(PMS2):c.-93G>A
|
rs6976537
|
|
NM_000535.5(PMS2):c.1145-1350_*20545del
|
|
|
NM_000535.5(PMS2):c.354-?_(*160_?)del
|
|
|
NM_000535.5(PMS2):c.538-?_903+?del
|
|
|
NM_000535.5(PMS2):c.804-60_804-59insJN866832.1
|
|
|
NM_000535.5(PMS2):c.804-?_2006+?del
|
|
|
NM_000535.5(PMS2):c.904-?_(*160_?)del
|
|
|
NM_000535.5(PMS2):c.904-?_1144+?del
|
|
|
NM_000535.5(PMS2):c.989-?_(*160_?)del
|
|
|
NM_000535.5(PMS2):c.989-?_1144+?del
|
|
|
NM_000535.5:c.(1144+1_1145-1)_(2174+1_2715-1)dup
|
|
|
NM_000535.6(PMS2):c.(?_-1)_2006+?dup
|
|
|
NM_000535.6(PMS2):c.-48C>A
|
rs886062402
|
|
NM_000535.6(PMS2):c.-49C>T
|
rs952806552
|
|
NM_000535.6(PMS2):c.-53G>A
|
rs559634583
|
|
NM_000535.6(PMS2):c.-87_537+?del
|
|
|
NM_000535.6(PMS2):c.-93G>T
|
rs6976537
|
|
NM_000535.6(PMS2):c.1145-?_2174+?del
|
|
|
NM_000535.6(PMS2):c.1145-?_2174+?dup1030
|
|
|
NM_000535.6(PMS2):c.1169_1170ins20 (p.?)
|
|
|
NM_000535.6(PMS2):c.164-?_2006+?del
|
|
|
NM_000535.6(PMS2):c.2007-?_2174+?del
|
|
|
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs)
|
rs1554294508
|
|
NM_000535.6(PMS2):c.2276-?_*160+?del
|
|
|
NM_000535.6(PMS2):c.2276-?_2445+?del
|
|
|
NM_000535.6(PMS2):c.24-?_163+?del
|
|
|
NM_000535.6(PMS2):c.354-?_803+?del
|
|
|
NM_000535.6(PMS2):c.706-?_803+?del
|
|
|
NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)
|
|
|
NM_000535.6(PMS2):c.804-?_903+?del
|
|
|
NM_000535.6(PMS2):c.904-?_988+?del
|
|
|
NM_000535.7(PMS2):c.*92dup
|
rs267608145
|
|
NM_000535.7(PMS2):c.1009dup (p.Thr337fs)
|
rs1214597671
|
|
NM_000535.7(PMS2):c.100_112del (p.Ser34fs)
|
|
|
NM_000535.7(PMS2):c.1017_1018insG (p.Lys340fs)
|
|
|
NM_000535.7(PMS2):c.1021del (p.Arg341fs)
|
rs63750049
|
|
NM_000535.7(PMS2):c.1026A>C (p.Gln342His)
|
rs561993366
|
|
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter)
|
rs1554298786
|
|
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp)
|
rs150515238
|
|
NM_000535.7(PMS2):c.1048del (p.Leu350fs)
|
|
|
NM_000535.7(PMS2):c.1067del (p.Lys356fs)
|
rs587781395
|
|
NM_000535.7(PMS2):c.1071del (p.Ser358fs)
|
rs1783529876
|
|
NM_000535.7(PMS2):c.1076dup (p.Leu359fs)
|
rs267608156
|
|
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile)
|
rs746889239
|
|
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs)
|
rs1583334346
|
|
NM_000535.7(PMS2):c.1112A>T (p.Asn371Ile)
|
rs1783517960
|
|
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)
|
rs587779326
|
|
NM_000535.7(PMS2):c.1114G>A (p.Val372Ile)
|
rs1554298669
|
|
NM_000535.7(PMS2):c.1117dup (p.Ser373fs)
|
rs1783516106
|
|
NM_000535.7(PMS2):c.1119T>A (p.Ser373Arg)
|
rs1060503147
|
|
NM_000535.7(PMS2):c.1119_1122del (p.Gln374fs)
|
rs757679199
|
|
NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter)
|
rs1437858319
|
|
NM_000535.7(PMS2):c.1123C>T (p.Gln375Ter)
|
rs956005905
|
|
NM_000535.7(PMS2):c.1130T>C (p.Leu377Pro)
|
rs1583334040
|
|
NM_000535.7(PMS2):c.1144+1G>C
|
rs373885654
|
|
NM_000535.7(PMS2):c.1144+1G>T
|
rs373885654
|
|
NM_000535.7(PMS2):c.1144+1del
|
rs2128746842
|
|
NM_000535.7(PMS2):c.1144+2T>A
|
rs267608158
|
|
NM_000535.7(PMS2):c.1144+2T>G
|
|
|
NM_000535.7(PMS2):c.1144+5del
|
rs878854032
|
|
NM_000535.7(PMS2):c.1145-2A>G
|
rs1325835006
|
|
NM_000535.7(PMS2):c.1145-2_1145-1del
|
|
|
NM_000535.7(PMS2):c.1145-5C>G
|
|
|
NM_000535.7(PMS2):c.1145-982_2006+2del
|
|
|
NM_000535.7(PMS2):c.1149C>G (p.Asn383Lys)
|
rs1562637166
|
|
NM_000535.7(PMS2):c.1151T>A (p.Leu384Ter)
|
|
|
NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter)
|
rs1554298087
|
|
NM_000535.7(PMS2):c.1158_1159del (p.Lys386fs)
|
|
|
NM_000535.7(PMS2):c.1164del (p.His388fs)
|
rs1554298082
|
|
NM_000535.7(PMS2):c.1165G>A (p.Ala389Thr)
|
rs1562637025
|
|
NM_000535.7(PMS2):c.116del (p.Val39fs)
|
rs1064794152
|
|
NM_000535.7(PMS2):c.1171G>C (p.Asp391His)
|
rs1064795020
|
|
NM_000535.7(PMS2):c.1180A>G (p.Lys394Glu)
|
rs1583323711
|
|
NM_000535.7(PMS2):c.1181del (p.Lys394fs)
|
rs1554298067
|
|
NM_000535.7(PMS2):c.1185del (p.Met396fs)
|
rs786204104
|
|
NM_000535.7(PMS2):c.1196dup (p.Gln400fs)
|
rs1554298056
|
|
NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)
|
|
|
NM_000535.7(PMS2):c.1206del (p.Gln402fs)
|
rs1562636427
|
|
NM_000535.7(PMS2):c.1211del (p.Pro404fs)
|
|
|
NM_000535.7(PMS2):c.1214C>T (p.Ser405Leu)
|
rs1554298036
|
|
NM_000535.7(PMS2):c.1217T>G (p.Leu406Ter)
|
|
|
NM_000535.7(PMS2):c.1219A>G (p.Arg407Gly)
|
rs776725795
|
|
NM_000535.7(PMS2):c.121G>T (p.Glu41Ter)
|
rs3209663
|
|
NM_000535.7(PMS2):c.1221del (p.Thr408fs)
|
rs587776715
|
|
NM_000535.7(PMS2):c.1223del (p.Thr408fs)
|
|
|
NM_000535.7(PMS2):c.122A>G (p.Glu41Gly)
|
rs1562701448
|
|
NM_000535.7(PMS2):c.1231dup (p.Glu411fs)
|
|
|
NM_000535.7(PMS2):c.1233A>C (p.Glu411Asp)
|
rs587780040
|
|
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu)
|
rs587778616
|
|
NM_000535.7(PMS2):c.1237_1239del (p.Lys413del)
|
rs267608159
|
|
NM_000535.7(PMS2):c.1238_1239del (p.Lys413fs)
|
|
|
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg)
|
rs587780041
|
|
NM_000535.7(PMS2):c.1239_1240insT (p.Asp414Ter)
|
rs1562635799
|
|
NM_000535.7(PMS2):c.1239del (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.1239dup (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)
|
rs863224676
|
|
NM_000535.7(PMS2):c.1247C>G (p.Ser416Cys)
|
rs1554297981
|
|
NM_000535.7(PMS2):c.1249_1253dup (p.Arg419fs)
|
|
|
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
|
|
|
NM_000535.7(PMS2):c.1262G>T (p.Arg421Leu)
|
rs778482303
|
|
NM_000535.7(PMS2):c.1266_1281del (p.Glu422fs)
|
|
|
NM_000535.7(PMS2):c.1267G>A (p.Ala423Thr)
|
rs587778619
|
|
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser)
|
rs876661186
|
|
NM_000535.7(PMS2):c.1275_1279del (p.Leu426fs)
|
rs1554297962
|
|
NM_000535.7(PMS2):c.1281del (p.His428fs)
|
rs1783147885
|
|
NM_000535.7(PMS2):c.1289_1292del (p.Thr430fs)
|
|
|
NM_000535.7(PMS2):c.1296del (p.Asn432fs)
|
|
|
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter)
|
rs863224496
|
|
NM_000535.7(PMS2):c.129del (p.Glu44fs)
|
rs1060503148
|
|
NM_000535.7(PMS2):c.1303C>T (p.His435Tyr)
|
rs148956636
|
|
NM_000535.7(PMS2):c.1306dup (p.Ser436fs)
|
rs63750106
|
|
NM_000535.7(PMS2):c.1322A>G (p.Glu441Gly)
|
rs1562634610
|
|
NM_000535.7(PMS2):c.1329_1330dup (p.Arg444fs)
|
|
|
NM_000535.7(PMS2):c.1332del (p.Ser445fs)
|
rs1554297877
|
|
NM_000535.7(PMS2):c.1336_1402del (p.Ser445_Pro446insTer)
|
rs1562633331
|
|
NM_000535.7(PMS2):c.1344A>G (p.Gly448=)
|
rs759192470
|
|
NM_000535.7(PMS2):c.1345C>T (p.Gln449Ter)
|
rs876661256
|
|
NM_000535.7(PMS2):c.1351del (p.Arg451fs)
|
rs1562634268
|
|
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg)
|
rs569947936
|
|
NM_000535.7(PMS2):c.1354_1355del (p.Gly452fs)
|
|
|
NM_000535.7(PMS2):c.1356T>G (p.Gly452=)
|
rs786202946
|
|
NM_000535.7(PMS2):c.1359G>A (p.Met453Ile)
|
rs886062401
|
|
NM_000535.7(PMS2):c.1366del (p.Ser456fs)
|
rs1583320992
|
|
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)
|
rs587780724
|
|
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)
|
rs121434629
|
|
NM_000535.7(PMS2):c.1393A>C (p.Lys465Gln)
|
rs1060503135
|
|
NM_000535.7(PMS2):c.139_146del (p.Leu47fs)
|
rs886039615
|
|
NM_000535.7(PMS2):c.1408delinsTGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGA (p.Pro470delinsCysLeuLeuAlaLeuGlnValProSerLeuThrLysAlaSerTer)
|
|
|
NM_000535.7(PMS2):c.1415_1418del (p.Lys472fs)
|
|
|
NM_000535.7(PMS2):c.1417G>T (p.Glu473Ter)
|
|
|
NM_000535.7(PMS2):c.1418_1419del (p.Glu473fs)
|
rs1783098862
|
|
NM_000535.7(PMS2):c.1430C>A (p.Ser477Tyr)
|
rs876661291
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg)
|
rs146848345
|
|
NM_000535.7(PMS2):c.1447G>A (p.Asp483Asn)
|
rs1583319965
|
|
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met)
|
rs1805323
|
|
NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys)
|
rs876660060
|
|
NM_000535.7(PMS2):c.146C>G (p.Ala49Gly)
|
rs786203255
|
|
NM_000535.7(PMS2):c.1472_1485del (p.Glu491fs)
|
rs1562632035
|
|
NM_000535.7(PMS2):c.1473G>C (p.Glu491Asp)
|
rs530105089
|
|
NM_000535.7(PMS2):c.1485dup (p.His496fs)
|
|
|
NM_000535.7(PMS2):c.1486dup (p.His496fs)
|
|
|
NM_000535.7(PMS2):c.149del (p.Gly50fs)
|
|
|
NM_000535.7(PMS2):c.1500del (p.Val501fs)
|
rs759151952
|
|
NM_000535.7(PMS2):c.1500dup (p.Val501fs)
|
rs759151952
|
|
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly)
|
rs1254121331
|
|
NM_000535.7(PMS2):c.1533G>T (p.Thr511=)
|
rs542520309
|
|
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser)
|
rs1060503127
|
|
NM_000535.7(PMS2):c.1535G>A (p.Gly512Asp)
|
rs1450081432
|
|
NM_000535.7(PMS2):c.1545C>A (p.Cys515Ter)
|
|
|
NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)
|
|
|
NM_000535.7(PMS2):c.1556_1557del (p.Tyr519fs)
|
|
|
NM_000535.7(PMS2):c.1557T>G (p.Tyr519Ter)
|
rs6972869
|
|
NM_000535.7(PMS2):c.155C>G (p.Thr52Ser)
|
rs1583418387
|
|
NM_000535.7(PMS2):c.155dup (p.Thr52_Asn53insTer)
|
|
|
NM_000535.7(PMS2):c.1564A>G (p.Ser522Gly)
|
rs1554297553
|
|
NM_000535.7(PMS2):c.1568C>A (p.Ser523Tyr)
|
|
|
NM_000535.7(PMS2):c.1568C>G (p.Ser523Cys)
|
rs1583318261
|
|
NM_000535.7(PMS2):c.1571dup (p.Gly525fs)
|
rs1554297534
|
|
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn)
|
rs63750686
|
|
NM_000535.7(PMS2):c.1577del (p.Asp526fs)
|
|
|
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs)
|
rs1064793234
|
|
NM_000535.7(PMS2):c.1579del (p.Arg527fs)
|
rs1554297523
|
|
NM_000535.7(PMS2):c.1583del (p.Gly528fs)
|
rs1783042060
|
|
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
|
|
|
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup)
|
rs587780043
|
|
NM_000535.7(PMS2):c.1605_1606del (p.Gln536fs)
|
rs2128726933
|
|
NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter)
|
rs1554297488
|
|
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer)
|
rs1554306288
|
|
NM_000535.7(PMS2):c.163+1G>A
|
rs1064795705
|
|
NM_000535.7(PMS2):c.163+1G>T
|
rs1064795705
|
|
NM_000535.7(PMS2):c.163+2T>C
|
rs587779329
|
|
NM_000535.7(PMS2):c.163+5G>C
|
|
|
NM_000535.7(PMS2):c.1633T>C (p.Ser545Pro)
|
rs1247571278
|
|
NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys)
|
rs557906137
|
|
NM_000535.7(PMS2):c.1634_1635del (p.Ser545fs)
|
rs753256070
|
|
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)
|
rs863224498
|
|
NM_000535.7(PMS2):c.1639dup (p.Ser547fs)
|
rs863224498
|
|
NM_000535.7(PMS2):c.164-1G>C
|
rs763308607
|
|
NM_000535.7(PMS2):c.164-1G>T
|
|
|
NM_000535.7(PMS2):c.164-2A>G
|
rs587779324
|
|
NM_000535.7(PMS2):c.164-518_803+252delinsCG
|
|
|
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter)
|
rs876659162
|
|
NM_000535.7(PMS2):c.1666del (p.Glu556fs)
|
|
|
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
|
|
|
NM_000535.7(PMS2):c.1682A>G (p.Lys561Arg)
|
rs876658481
|
|
NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu)
|
rs764749700
|
|
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)
|
rs587778618
|
|
NM_000535.7(PMS2):c.1687_1693del (p.Arg563fs)
|
rs1064795345
|
|
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln)
|
rs63750668
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000535.7(PMS2):c.1693T>G (p.Leu565Val)
|
rs786202870
|
|
NM_000535.7(PMS2):c.1694T>A (p.Leu565Ter)
|
|
|
NM_000535.7(PMS2):c.1699C>T (p.Gln567Ter)
|
rs1554297342
|
|
NM_000535.7(PMS2):c.1700A>G (p.Gln567Arg)
|
rs112104877
|
|
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg)
|
rs869312801
|
|
NM_000535.7(PMS2):c.1707delinsAA (p.Asn570fs)
|
|
|
NM_000535.7(PMS2):c.1709dup (p.Asn570fs)
|
rs1783004175
|
|
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer)
|
rs1060503126
|
|
NM_000535.7(PMS2):c.1716_1718delinsCAACTAAAACG (p.Thr573delinsAsnTer)
|
|
|
NM_000535.7(PMS2):c.1721del (p.Pro574fs)
|
rs1583316404
|
|
NM_000535.7(PMS2):c.1721dup (p.Asn575fs)
|
|
|
NM_000535.7(PMS2):c.1730dup (p.Arg578fs)
|
rs587779330
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys)
|
rs63750534
|
|
NM_000535.7(PMS2):c.1733G>A (p.Arg578His)
|
rs63750770
|
|
NM_000535.7(PMS2):c.1737del (p.Phe579fs)
|
rs1782994894
|
|
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)
|
rs267608169
|
|
NM_000535.7(PMS2):c.1743del (p.Glu582fs)
|
rs1057517801
|
|
NM_000535.7(PMS2):c.1756del (p.Ser586fs)
|
|
|
NM_000535.7(PMS2):c.1759A>C (p.Ser587Arg)
|
rs1554297277
|
|
NM_000535.7(PMS2):c.1768del (p.Ile590fs)
|
rs63750477
|
|
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)
|
rs764252217
|
|
NM_000535.7(PMS2):c.1778del (p.Lys593fs)
|
rs766389591
|
|
NM_000535.7(PMS2):c.1789del (p.Thr597fs)
|
|
|
NM_000535.7(PMS2):c.1796A>T (p.Asp599Val)
|
rs878854039
|
|
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)
|
rs63750456
|
|
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)
|
rs1064793426
|
|
NM_000535.7(PMS2):c.1815del (p.Asp606fs)
|
|
|
NM_000535.7(PMS2):c.182del (p.Tyr61fs)
|
rs63750793
|
|
NM_000535.7(PMS2):c.1831delinsTT (p.Ile611fs)
|
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)
|
rs63750490
|
|
NM_000535.7(PMS2):c.1842A>T (p.Lys614Asn)
|
|
|
NM_000535.7(PMS2):c.1844T>C (p.Val615Ala)
|
rs1060503112
|
|
NM_000535.7(PMS2):c.1845del (p.Val616fs)
|
|
|
NM_000535.7(PMS2):c.1849C>T (p.Pro617Ser)
|
rs864622096
|
|
NM_000535.7(PMS2):c.1855del (p.Asp619fs)
|
rs1782958183
|
|
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs)
|
rs756358866
|
|
NM_000535.7(PMS2):c.1863del (p.Ser621_Met622insTer)
|
rs1554297164
|
|
NM_000535.7(PMS2):c.1864_1865del (p.Met622fs)
|
rs1060503137
|
|
NM_000535.7(PMS2):c.1867del (p.Ser623fs)
|
|
|
NM_000535.7(PMS2):c.1874T>C (p.Leu625Ser)
|
rs63750835
|
|
NM_000535.7(PMS2):c.1874_1877delinsAGG (p.Leu625_Ala626delinsTer)
|
rs1554297153
|
|
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer)
|
rs786203073
|
|
NM_000535.7(PMS2):c.1876_1880del (p.Ala626fs)
|
|
|
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter)
|
rs1060503138
|
|
NM_000535.7(PMS2):c.1895T>G (p.Leu632Ter)
|
|
|
NM_000535.7(PMS2):c.1898A>G (p.His633Arg)
|
rs63750024
|
|
NM_000535.7(PMS2):c.1908del (p.Gln637fs)
|
rs1562626121
|
|
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)
|
rs1554297125
|
|
NM_000535.7(PMS2):c.190G>T (p.Asp64Tyr)
|
|
|
NM_000535.7(PMS2):c.1912del (p.Gln638fs)
|
rs1562626070
|
|
NM_000535.7(PMS2):c.1916G>A (p.Ser639Asn)
|
rs876659769
|
|
NM_000535.7(PMS2):c.1924del (p.Glu642fs)
|
rs2128721171
|
|
NM_000535.7(PMS2):c.1929_1930del (p.Asn644fs)
|
rs1782935566
|
|
NM_000535.7(PMS2):c.1930_1937del (p.Asn644fs)
|
|
|
NM_000535.7(PMS2):c.1933del (p.Tyr645fs)
|
|
|
NM_000535.7(PMS2):c.1934A>G (p.Tyr645Cys)
|
rs786203075
|
|
NM_000535.7(PMS2):c.1934dup (p.Tyr645Ter)
|
|
|
NM_000535.7(PMS2):c.1936del (p.Arg646fs)
|
rs1782934080
|
|
NM_000535.7(PMS2):c.1938del (p.Lys647fs)
|
rs2128720948
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.1949C>T (p.Ala650Val)
|
rs886062399
|
|
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg)
|
rs749141001
|
|
NM_000535.7(PMS2):c.195T>C (p.Leu65=)
|
rs780080040
|
|
NM_000535.7(PMS2):c.1960C>G (p.Pro654Ala)
|
|
|
NM_000535.7(PMS2):c.1970del (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.1970dup (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.1972C>T (p.Gln658Ter)
|
rs1172837844
|
|
NM_000535.7(PMS2):c.1975G>A (p.Ala659Thr)
|
rs786203095
|
|
NM_000535.7(PMS2):c.1981G>T (p.Glu661Ter)
|
rs778531080
|
|
NM_000535.7(PMS2):c.1985A>T (p.Asp662Val)
|
rs1320079782
|
|
NM_000535.7(PMS2):c.1987G>T (p.Glu663Ter)
|
rs1554297061
|
|
NM_000535.7(PMS2):c.1998A>T (p.Lys666Asn)
|
|
|
NM_000535.7(PMS2):c.1A>C (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.1A>T (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.2001_2002del (p.Glu667fs)
|
rs1554297058
|
|
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)
|
rs869320619
|
|
NM_000535.7(PMS2):c.2006+1G>A
|
rs1554297040
|
|
NM_000535.7(PMS2):c.2006_2006+4del
|
rs771928911
|
|
NM_000535.7(PMS2):c.2007-1G>A
|
rs267608170
|
|
NM_000535.7(PMS2):c.2007-1G>C
|
|
|
NM_000535.7(PMS2):c.2007-1_2009del
|
|
|
NM_000535.7(PMS2):c.2007-2A>G
|
rs587782336
|
|
NM_000535.7(PMS2):c.2007-4_2007-1delinsACAC
|
rs1562616355
|
|
NM_000535.7(PMS2):c.2007-6C>G
|
rs376018314
|
|
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu)
|
rs1554295980
|
|
NM_000535.7(PMS2):c.2016del (p.Met672fs)
|
rs1554295967
|
|
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu)
|
rs878854041
|
|
NM_000535.7(PMS2):c.2032del (p.Ile678fs)
|
|
|
NM_000535.7(PMS2):c.2039G>A (p.Gly680Asp)
|
|
|
NM_000535.7(PMS2):c.2043G>A (p.Gln681=)
|
rs876658953
|
|
NM_000535.7(PMS2):c.2043G>C (p.Gln681His)
|
|
|
NM_000535.7(PMS2):c.2050del (p.Leu684fs)
|
|
|
NM_000535.7(PMS2):c.2053G>A (p.Gly685Arg)
|
rs1583299418
|
|
NM_000535.7(PMS2):c.205del (p.Ser69fs)
|
rs2128830113
|
|
NM_000535.7(PMS2):c.206C>A (p.Ser69Ter)
|
rs730881914
|
|
NM_000535.7(PMS2):c.2075A>G (p.Asn692Ser)
|
rs1562615666
|
|
NM_000535.7(PMS2):c.2089A>G (p.Ile697Val)
|
rs1554295859
|
|
NM_000535.7(PMS2):c.2091A>G (p.Ile697Met)
|
rs1554295855
|
|
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)
|
rs587781317
|
|
NM_000535.7(PMS2):c.20C>A (p.Ser7Ter)
|
|
|
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu)
|
rs587780048
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
|
|
|
NM_000535.7(PMS2):c.2123del (p.Asn708fs)
|
rs781078805
|
|
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser)
|
rs587780049
|
|
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)
|
rs876659900
|
|
NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter)
|
rs1057524433
|
|
NM_000535.7(PMS2):c.2143C>T (p.His715Tyr)
|
rs747494931
|
|
NM_000535.7(PMS2):c.2146A>G (p.Thr716Ala)
|
rs772637411
|
|
NM_000535.7(PMS2):c.2148del (p.Val717fs)
|
|
|
NM_000535.7(PMS2):c.214G>T (p.Gly72Ter)
|
|
|
NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs)
|
rs1785419483
|
|
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg)
|
rs587782559
|
|
NM_000535.7(PMS2):c.2156del (p.Gln719fs)
|
rs786201062
|
|
NM_000535.7(PMS2):c.2160del (p.Gln721fs)
|
|
|
NM_000535.7(PMS2):c.2167C>G (p.Leu723Val)
|
rs1456057054
|
|
NM_000535.7(PMS2):c.2168T>C (p.Leu723Pro)
|
rs1246922900
|
|
NM_000535.7(PMS2):c.2174+1G>C
|
rs267608172
|
|
NM_000535.7(PMS2):c.2174+1G>T
|
|
|
NM_000535.7(PMS2):c.2174+6T>A
|
rs587780050
|
|
NM_000535.7(PMS2):c.2174+9G>T
|
rs1782431297
|
|
NM_000535.7(PMS2):c.2175-11G>T
|
rs538914402
|
|
NM_000535.7(PMS2):c.2175-1G>A
|
|
|
NM_000535.7(PMS2):c.2175-1G>C
|
rs1562605623
|
|
NM_000535.7(PMS2):c.2175-2A>G
|
|
|
NM_000535.7(PMS2):c.2179C>T (p.Gln727Ter)
|
rs786202202
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.2192T>A (p.Leu731Ter)
|
rs1060503110
|
|
NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter)
|
rs1060503110
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.2194A>G (p.Thr732Ala)
|
rs587781958
|
|
NM_000535.7(PMS2):c.219_220dup (p.Gly74fs)
|
rs587779336
|
|
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg)
|
rs1554304979
|
|
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg)
|
rs1554304979
|
|
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe)
|
rs758225108
|
|
NM_000535.7(PMS2):c.2212_2213del (p.Val738fs)
|
|
|
NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)
|
|
|
NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter)
|
rs1554294448
|
|
NM_000535.7(PMS2):c.223del (p.Gly74_Val75insTer)
|
rs1554304974
|
|
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs)
|
rs267608173
|
|
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys)
|
rs200824831
|
|
NM_000535.7(PMS2):c.2247T>G (p.Asn749Lys)
|
|
|
NM_000535.7(PMS2):c.2249del (p.Gly750fs)
|
rs1583285552
|
|
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn)
|
rs762206330
|
|
NM_000535.7(PMS2):c.2275+11A>T
|
rs983422739
|
|
NM_000535.7(PMS2):c.2275+1G>A
|
rs1554294393
|
|
NM_000535.7(PMS2):c.2275+1G>C
|
rs1554294393
|
|
NM_000535.7(PMS2):c.2275+1G>T
|
rs1554294393
|
|
NM_000535.7(PMS2):c.2275+2T>C
|
rs1562604682
|
|
NM_000535.7(PMS2):c.2276-113_2445+1596del
|
|
|
NM_000535.7(PMS2):c.2276-2A>C
|
rs1554294019
|
|
NM_000535.7(PMS2):c.2276-91_2445+790del
|
|
|
NM_000535.7(PMS2):c.2281del (p.Val761fs)
|
|
|
NM_000535.7(PMS2):c.23+1G>A
|
rs587782074
|
|
NM_000535.7(PMS2):c.23+21_23+28del
|
rs1554308880
|
|
NM_000535.7(PMS2):c.23+6C>T
|
rs779104357
|
|
NM_000535.7(PMS2):c.2314A>G (p.Thr772Ala)
|
|
|
NM_000535.7(PMS2):c.2315C>T (p.Thr772Ile)
|
rs1781849852
|
|
NM_000535.7(PMS2):c.2319dup (p.Lys774Ter)
|
rs1554293975
|
|
NM_000535.7(PMS2):c.2320_2321insT (p.Lys774fs)
|
|
|
NM_000535.7(PMS2):c.2324del (p.Asn775fs)
|
|
|
NM_000535.7(PMS2):c.232G>C (p.Glu78Gln)
|
rs1785414812
|
|
NM_000535.7(PMS2):c.232G>T (p.Glu78Ter)
|
|
|
NM_000535.7(PMS2):c.2331dup (p.Phe778fs)
|
|
|
NM_000535.7(PMS2):c.2335G>T (p.Gly779Ter)
|
|
|
NM_000535.7(PMS2):c.233A>G (p.Glu78Gly)
|
rs2128829529
|
|
NM_000535.7(PMS2):c.2341C>T (p.Gln781Ter)
|
rs587780054
|
|
NM_000535.7(PMS2):c.2341del (p.Gln781fs)
|
|
|
NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter)
|
rs1554293920
|
|
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)
|
rs267608160
|
|
NM_000535.7(PMS2):c.2365A>G (p.Met789Val)
|
rs377259633
|
|
NM_000535.7(PMS2):c.2373del (p.Ser791fs)
|
|
|
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser)
|
rs773393960
|
|
NM_000535.7(PMS2):c.2381C>G (p.Pro794Arg)
|
rs876659030
|
|
NM_000535.7(PMS2):c.2386dup (p.Val796fs)
|
|
|
NM_000535.7(PMS2):c.2389A>T (p.Met797Leu)
|
rs1433888137
|
|
NM_000535.7(PMS2):c.2392T>C (p.Cys798Arg)
|
rs1554293839
|
|
NM_000535.7(PMS2):c.2395dup (p.Arg799fs)
|
|
|
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs)
|
rs2128672594
|
|
NM_000535.7(PMS2):c.2397del (p.Pro800fs)
|
|
|
NM_000535.7(PMS2):c.24-12_107delinsAAAT
|
rs1554306445
|
|
NM_000535.7(PMS2):c.24-1G>A
|
rs1785723689
|
|
NM_000535.7(PMS2):c.240C>A (p.Phe80Leu)
|
rs143162541
|
|
NM_000535.7(PMS2):c.240C>G (p.Phe80Leu)
|
rs143162541
|
|
NM_000535.7(PMS2):c.2410A>T (p.Lys804Ter)
|
rs2128672286
|
|
NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter)
|
rs1554293810
|
|
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)
|
rs730881919
|
|
NM_000535.7(PMS2):c.2425_2426del (p.Ser809fs)
|
|
|
NM_000535.7(PMS2):c.2438G>C (p.Arg813Pro)
|
|
|
NM_000535.7(PMS2):c.2444C>A (p.Ser815Ter)
|
rs587779338
|
|
NM_000535.7(PMS2):c.2444_2445insTT (p.Val816fs)
|
rs2128671557
|
|
NM_000535.7(PMS2):c.2445+1G>A
|
rs876661113
|
|
NM_000535.7(PMS2):c.2445+1G>C
|
rs876661113
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
|
NM_000535.7(PMS2):c.2450del (p.Met817fs)
|
|
|
NM_000535.7(PMS2):c.2458dup (p.Thr820fs)
|
rs1554292880
|
|
NM_000535.7(PMS2):c.2464C>G (p.Leu822Val)
|
rs1554292873
|
|
NM_000535.7(PMS2):c.2465T>C (p.Leu822Pro)
|
rs587781636
|
|
NM_000535.7(PMS2):c.2469_2473del (p.Asn823fs)
|
rs2128658792
|
|
NM_000535.7(PMS2):c.2471C>A (p.Thr824Lys)
|
rs1354323014
|
|
NM_000535.7(PMS2):c.247_250dup (p.Thr84fs)
|
rs1554304940
|
|
NM_000535.7(PMS2):c.2489T>C (p.Leu830Pro)
|
rs1781502574
|
|
NM_000535.7(PMS2):c.250+4A>G
|
rs1554304934
|
|
NM_000535.7(PMS2):c.250+8G>A
|
rs1057520511
|
|
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)
|
rs587781626
|
|
NM_000535.7(PMS2):c.2501T>C (p.Met834Thr)
|
|
|
NM_000535.7(PMS2):c.2502G>T (p.Met834Ile)
|
rs1554292818
|
|
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter)
|
rs786201039
|
|
NM_000535.7(PMS2):c.2506del (p.Glu836fs)
|
rs2128658092
|
|
NM_000535.7(PMS2):c.2509A>G (p.Met837Val)
|
|
|
NM_000535.7(PMS2):c.250A>C (p.Thr84Pro)
|
rs1554304938
|
|
NM_000535.7(PMS2):c.251-1G>C
|
|
|
NM_000535.7(PMS2):c.251-1G>T
|
rs764171734
|
|
NM_000535.7(PMS2):c.251-2A>C
|
rs587779340
|
|
NM_000535.7(PMS2):c.251-2A>G
|
rs587779340
|
|
NM_000535.7(PMS2):c.2516_2519del (p.His839fs)
|
|
|
NM_000535.7(PMS2):c.2519C>T (p.Pro840Leu)
|
rs1554292787
|
|
NM_000535.7(PMS2):c.2528G>C (p.Cys843Ser)
|
|
|
NM_000535.7(PMS2):c.2529_2537del (p.Cys843_Gly846delinsTer)
|
|
|
NM_000535.7(PMS2):c.2529del (p.His845fs)
|
|
|
NM_000535.7(PMS2):c.2531C>A (p.Pro844His)
|
rs587782787
|
|
NM_000535.7(PMS2):c.2533del (p.His845fs)
|
rs1064796500
|
|
NM_000535.7(PMS2):c.2534A>G (p.His845Arg)
|
rs1554292741
|
|
NM_000535.7(PMS2):c.2535T>G (p.His845Gln)
|
|
|
NM_000535.7(PMS2):c.2543C>T (p.Pro848Leu)
|
rs786201850
|
|
NM_000535.7(PMS2):c.2549T>C (p.Met850Thr)
|
|
|
NM_000535.7(PMS2):c.2549T>G (p.Met850Arg)
|
rs1781486223
|
|
NM_000535.7(PMS2):c.2554C>T (p.His852Tyr)
|
rs754350493
|
|
NM_000535.7(PMS2):c.2560G>C (p.Ala854Pro)
|
rs574371474
|
|
NM_000535.7(PMS2):c.256A>C (p.Lys86Gln)
|
rs544441867
|
|
NM_000535.7(PMS2):c.2587T>G (p.Ter863Gly)
|
rs1060503124
|
|
NM_000535.7(PMS2):c.261_265del (p.His88fs)
|
|
|
NM_000535.7(PMS2):c.262dup (p.His88fs)
|
|
|
NM_000535.7(PMS2):c.267_268insGATA (p.Ser90fs)
|
|
|
NM_000535.7(PMS2):c.269C>G (p.Ser90Cys)
|
rs770678468
|
|
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)
|
rs1554304745
|
|
NM_000535.7(PMS2):c.270dup (p.Lys91Ter)
|
|
|
NM_000535.7(PMS2):c.296C>T (p.Thr99Ile)
|
rs786202835
|
|
NM_000535.7(PMS2):c.298C>T (p.Gln100Ter)
|
|
|
NM_000535.7(PMS2):c.299A>G (p.Gln100Arg)
|
rs747771951
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
NM_000535.7(PMS2):c.2T>G (p.Met1Arg)
|
rs587780059
|
|
NM_000535.7(PMS2):c.304del (p.Glu102fs)
|
|
|
NM_000535.7(PMS2):c.307A>G (p.Thr103Ala)
|
|
|
NM_000535.7(PMS2):c.30A>G (p.Glu10=)
|
rs876660608
|
|
NM_000535.7(PMS2):c.311T>C (p.Phe104Ser)
|
rs876660295
|
|
NM_000535.7(PMS2):c.312del (p.Phe104fs)
|
rs1785372371
|
|
NM_000535.7(PMS2):c.325G>T (p.Glu109Ter)
|
rs63749862
|
|
NM_000535.7(PMS2):c.325del (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.325dup (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.332T>C (p.Leu111Pro)
|
rs1554304623
|
|
NM_000535.7(PMS2):c.33del (p.Ala12fs)
|
rs1554306605
|
|
NM_000535.7(PMS2):c.351del (p.Ser118fs)
|
|
|
NM_000535.7(PMS2):c.353+1G>A
|
rs113517055
|
|
NM_000535.7(PMS2):c.353+2T>C
|
rs111466480
|
|
NM_000535.7(PMS2):c.353+7C>G
|
rs1057520512
|
|
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)
|
rs1394474494
|
|
NM_000535.7(PMS2):c.353G>T (p.Ser118Ile)
|
rs1394474494
|
|
NM_000535.7(PMS2):c.354-1G>A
|
rs786203954
|
|
NM_000535.7(PMS2):c.354-2A>G
|
rs786202098
|
|
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr)
|
rs587781913
|
|
NM_000535.7(PMS2):c.358_365dup (p.Ile122fs)
|
|
|
NM_000535.7(PMS2):c.368del (p.Ser123fs)
|
rs2128819251
|
|
NM_000535.7(PMS2):c.375C>A (p.Cys125Ter)
|
rs1562690527
|
|
NM_000535.7(PMS2):c.376C>G (p.His126Asp)
|
rs774135207
|
|
NM_000535.7(PMS2):c.378C>G (p.His126Gln)
|
rs768488890
|
|
NM_000535.7(PMS2):c.383C>A (p.Ser128Ter)
|
rs116373169
|
|
NM_000535.7(PMS2):c.397_406del (p.Thr133fs)
|
|
|
NM_000535.7(PMS2):c.3G>A (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.3G>T (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.407del (p.Met136fs)
|
|
|
NM_000535.7(PMS2):c.42del (p.Ile15fs)
|
rs2128846824
|
|
NM_000535.7(PMS2):c.439A>C (p.Thr147Pro)
|
rs1583403496
|
|
NM_000535.7(PMS2):c.444del (p.Tyr149fs)
|
|
|
NM_000535.7(PMS2):c.445del (p.Tyr149fs)
|
rs769742496
|
|
NM_000535.7(PMS2):c.446A>C (p.Tyr149Ser)
|
rs1554304003
|
|
NM_000535.7(PMS2):c.447C>G (p.Tyr149Ter)
|
|
|
NM_000535.7(PMS2):c.449C>G (p.Pro150Arg)
|
rs778119115
|
|
NM_000535.7(PMS2):c.451C>G (p.Arg151Gly)
|
rs758561884
|
|
NM_000535.7(PMS2):c.451del (p.Arg151fs)
|
rs1562689635
|
|
NM_000535.7(PMS2):c.452G>C (p.Arg151Pro)
|
rs35629870
|
|
NM_000535.7(PMS2):c.452_457delinsCCCC (p.Arg151fs)
|
|
|
NM_000535.7(PMS2):c.452_457delinsCCCCC (p.Arg151fs)
|
|
|
NM_000535.7(PMS2):c.457del (p.Arg153fs)
|
rs1785207289
|
|
NM_000535.7(PMS2):c.467_468del (p.Thr156fs)
|
|
|
NM_000535.7(PMS2):c.475G>C (p.Val159Leu)
|
rs142416537
|
|
NM_000535.7(PMS2):c.478C>T (p.Gln160Ter)
|
rs36038802
|
|
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)
|
rs1785199575
|
|
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu)
|
rs587780060
|
|
NM_000535.7(PMS2):c.487_497del (p.Phe163fs)
|
|
|
NM_000535.7(PMS2):c.4G>T (p.Glu2Ter)
|
rs1554309080
|
|
NM_000535.7(PMS2):c.503dup (p.Arg169fs)
|
|
|
NM_000535.7(PMS2):c.512del (p.Lys171fs)
|
|
|
NM_000535.7(PMS2):c.51_55del (p.Ile18fs)
|
|
|
NM_000535.7(PMS2):c.51del (p.Ile18fs)
|
rs1785715961
|
|
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter)
|
rs1221485925
|
|
NM_000535.7(PMS2):c.525_534del (p.Asn176fs)
|
rs1785187053
|
|
NM_000535.7(PMS2):c.525del (p.Asn176fs)
|
rs2128815756
|
|
NM_000535.7(PMS2):c.535A>T (p.Lys179Ter)
|
rs1554303861
|
|
NM_000535.7(PMS2):c.537+1G>A
|
rs863224450
|
|
NM_000535.7(PMS2):c.537+1del
|
rs1064793868
|
|
NM_000535.7(PMS2):c.537G>A (p.Lys179=)
|
rs864622074
|
|
NM_000535.7(PMS2):c.538-1G>A
|
rs988423880
|
|
NM_000535.7(PMS2):c.538-2A>C
|
rs758304323
|
|
NM_000535.7(PMS2):c.538-2A>T
|
|
|
NM_000535.7(PMS2):c.538-478_705+456del
|
|
|
NM_000535.7(PMS2):c.538-4A>G
|
|
|
NM_000535.7(PMS2):c.538-65_589delinsGCAACATCCAATTGGT
|
|
|
NM_000535.7(PMS2):c.538-8T>C
|
rs922948916
|
|
NM_000535.7(PMS2):c.538G>T (p.Glu180Ter)
|
|
|
NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer)
|
rs63751029
|
|
NM_000535.7(PMS2):c.551T>C (p.Met184Thr)
|
rs1583387794
|
|
NM_000535.7(PMS2):c.552G>T (p.Met184Ile)
|
rs764853641
|
|
NM_000535.7(PMS2):c.555C>T (p.Val185=)
|
rs759078497
|
|
NM_000535.7(PMS2):c.55G>C (p.Asp19His)
|
rs1554306568
|
|
NM_000535.7(PMS2):c.564dup (p.His189fs)
|
|
|
NM_000535.7(PMS2):c.56A>G (p.Asp19Gly)
|
rs1554306564
|
|
NM_000535.7(PMS2):c.572A>C (p.Tyr191Ser)
|
rs375289386
|
|
NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)
|
|
|
NM_000535.7(PMS2):c.573C>G (p.Tyr191Ter)
|
rs761134229
|
|
NM_000535.7(PMS2):c.580A>G (p.Ile194Val)
|
rs1554302492
|
|
NM_000535.7(PMS2):c.584C>A (p.Ser195Ter)
|
|
|
NM_000535.7(PMS2):c.596G>T (p.Arg199Leu)
|
|
|
NM_000535.7(PMS2):c.598del (p.Arg199_Val200insTer)
|
|
|
NM_000535.7(PMS2):c.613C>T (p.Gln205Ter)
|
rs758250810
|
|
NM_000535.7(PMS2):c.615G>C (p.Gln205His)
|
rs752499497
|
|
NM_000535.7(PMS2):c.622C>T (p.Gln208Ter)
|
|
|
NM_000535.7(PMS2):c.629A>G (p.Lys210Arg)
|
|
|
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter)
|
rs760228510
|
|
NM_000535.7(PMS2):c.634C>T (p.Gln212Ter)
|
rs1562678257
|
|
NM_000535.7(PMS2):c.636G>A (p.Gln212=)
|
rs1784804225
|
|
NM_000535.7(PMS2):c.641T>G (p.Val214Gly)
|
rs864622706
|
|
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs)
|
rs1784802468
|
|
NM_000535.7(PMS2):c.652G>C (p.Gly218Arg)
|
rs878854055
|
|
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter)
|
rs1064796190
|
|
NM_000535.7(PMS2):c.65C>A (p.Ser22Ter)
|
rs767028531
|
|
NM_000535.7(PMS2):c.65C>G (p.Ser22Ter)
|
rs767028531
|
|
NM_000535.7(PMS2):c.662C>T (p.Pro221Leu)
|
rs878854056
|
|
NM_000535.7(PMS2):c.663del (p.Ser222fs)
|
rs2128799910
|
|
NM_000535.7(PMS2):c.672G>C (p.Lys224Asn)
|
rs748141595
|
|
NM_000535.7(PMS2):c.678_681dup (p.Gly228fs)
|
rs1562677687
|
|
NM_000535.7(PMS2):c.688G>A (p.Val230Met)
|
rs1562677528
|
|
NM_000535.7(PMS2):c.68_69del (p.Val23fs)
|
|
|
NM_000535.7(PMS2):c.690_691del (p.Phe231fs)
|
rs1064795447
|
|
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu)
|
rs201811667
|
|
NM_000535.7(PMS2):c.697C>G (p.Gln233Glu)
|
rs587779343
|
|
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter)
|
rs587779343
|
|
NM_000535.7(PMS2):c.703C>T (p.Gln235Ter)
|
rs63750261
|
|
NM_000535.7(PMS2):c.705+1G>A
|
rs267608147
|
|
NM_000535.7(PMS2):c.705+1G>T
|
rs267608147
|
|
NM_000535.7(PMS2):c.705+2T>C
|
rs1784783734
|
|
NM_000535.7(PMS2):c.705G>A (p.Gln235=)
|
rs876660872
|
|
NM_000535.7(PMS2):c.706-11T>C
|
rs1185117521
|
|
NM_000535.7(PMS2):c.706-14T>A
|
rs1057523232
|
|
NM_000535.7(PMS2):c.706-2A>T
|
rs745487791
|
|
NM_000535.7(PMS2):c.706-3delinsTA
|
rs1436961952
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-5_706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)
|
rs201395630
|
|
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu)
|
rs587780061
|
|
NM_000535.7(PMS2):c.715C>T (p.Leu239Phe)
|
rs1554301543
|
|
NM_000535.7(PMS2):c.717_723dup (p.Phe242fs)
|
rs1583375182
|
|
NM_000535.7(PMS2):c.722C>T (p.Pro241Leu)
|
rs1554301523
|
|
NM_000535.7(PMS2):c.726del (p.Phe242fs)
|
rs1583375132
|
|
NM_000535.7(PMS2):c.727G>T (p.Val243Phe)
|
rs867655834
|
|
NM_000535.7(PMS2):c.730C>T (p.Gln244Ter)
|
rs1562671039
|
|
NM_000535.7(PMS2):c.733_741delinsGCTGTGCTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer)
|
rs1554301495
|
|
NM_000535.7(PMS2):c.735dup (p.Pro246fs)
|
rs2128788145
|
|
NM_000535.7(PMS2):c.736C>A (p.Pro246Thr)
|
rs765668173
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.740dup (p.Pro247_Ser248insTer)
|
|
|
NM_000535.7(PMS2):c.741_742insTGAAG (p.Ser248Ter)
|
rs756653193
|
|
NM_000535.7(PMS2):c.741del (p.Ser248fs)
|
rs1583374709
|
|
NM_000535.7(PMS2):c.742dup (p.Ser248fs)
|
rs1784536095
|
|
NM_000535.7(PMS2):c.746_753del (p.Asp249fs)
|
rs587782710
|
|
NM_000535.7(PMS2):c.746_755del (p.Asp249fs)
|
|
|
NM_000535.7(PMS2):c.748_749del (p.Ser250fs)
|
rs1554301486
|
|
NM_000535.7(PMS2):c.750del (p.Val251fs)
|
|
|
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs1064794905
|
|
NM_000535.7(PMS2):c.757G>T (p.Glu253Ter)
|
|
|
NM_000535.7(PMS2):c.75G>C (p.Gln25His)
|
rs1554306525
|
|
NM_000535.7(PMS2):c.75G>T (p.Gln25His)
|
rs1554306525
|
|
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)
|
rs573125799
|
|
NM_000535.7(PMS2):c.765C>G (p.Tyr255Ter)
|
|
|
NM_000535.7(PMS2):c.767del (p.Gly256fs)
|
|
|
NM_000535.7(PMS2):c.769_778del (p.Leu257fs)
|
|
|
NM_000535.7(PMS2):c.770T>G (p.Leu257Trp)
|
rs1554301463
|
|
NM_000535.7(PMS2):c.774_776del (p.Cys259del)
|
|
|
NM_000535.7(PMS2):c.774_780delinsTACG (p.Cys259_Ser260delinsThr)
|
rs1554301436
|
|
NM_000535.7(PMS2):c.778_780delinsACG (p.Ser260Thr)
|
|
|
NM_000535.7(PMS2):c.780del (p.Asp261fs)
|
rs587779344
|
|
NM_000535.7(PMS2):c.781del (p.Asp261fs)
|
|
|
NM_000535.7(PMS2):c.787C>G (p.Leu263Val)
|
rs587779345
|
|
NM_000535.7(PMS2):c.789G>A (p.Leu263=)
|
rs755394319
|
|
NM_000535.7(PMS2):c.790_803+5del
|
|
|
NM_000535.7(PMS2):c.793_803+7del
|
|
|
NM_000535.7(PMS2):c.79del (p.Cys27fs)
|
|
|
NM_000535.7(PMS2):c.7C>T (p.Arg3Ter)
|
rs763939668
|
|
NM_000535.7(PMS2):c.802del (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.802dup (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.803+1G>A
|
rs1562669585
|
|
NM_000535.7(PMS2):c.803+1G>T
|
rs1562669585
|
|
NM_000535.7(PMS2):c.803+2T>G
|
|
|
NM_000535.7(PMS2):c.803+3A>T
|
|
|
NM_000535.7(PMS2):c.804-10T>G
|
rs267608151
|
|
NM_000535.7(PMS2):c.804-11A>G
|
|
|
NM_000535.7(PMS2):c.804-12A>G
|
rs1221537446
|
|
NM_000535.7(PMS2):c.804-1G>A
|
rs1562664845
|
|
NM_000535.7(PMS2):c.804-1G>C
|
|
|
NM_000535.7(PMS2):c.804-1G>T
|
|
|
NM_000535.7(PMS2):c.817A>G (p.Ile273Val)
|
rs587778621
|
|
NM_000535.7(PMS2):c.821C>G (p.Ser274Ter)
|
|
|
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)
|
rs587780062
|
|
NM_000535.7(PMS2):c.828C>A (p.Cys276Ter)
|
rs757324104
|
|
NM_000535.7(PMS2):c.82T>G (p.Ser28Ala)
|
rs587781908
|
|
NM_000535.7(PMS2):c.841G>T (p.Gly281Ter)
|
|
|
NM_000535.7(PMS2):c.846del (p.Ser283fs)
|
rs1057515571
|
|
NM_000535.7(PMS2):c.851C>G (p.Ser284Ter)
|
rs587782898
|
|
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer)
|
rs876658964
|
|
NM_000535.7(PMS2):c.857_864del (p.Asp286fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu)
|
rs201921616
|
|
NM_000535.7(PMS2):c.860dup (p.Gln288fs)
|
rs2128775362
|
|
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.862C>T (p.Gln288Ter)
|
rs1583363851
|
|
NM_000535.7(PMS2):c.862_863del (p.Gln288fs)
|
rs63750246
|
|
NM_000535.7(PMS2):c.868T>C (p.Phe290Leu)
|
rs587782833
|
|
NM_000535.7(PMS2):c.869del (p.Phe290fs)
|
rs2128775109
|
|
NM_000535.7(PMS2):c.870del (p.Phe291fs)
|
rs1784299649
|
|
NM_000535.7(PMS2):c.873del (p.Phe291fs)
|
rs1261282733
|
|
NM_000535.7(PMS2):c.874A>T (p.Ile292Phe)
|
rs587781281
|
|
NM_000535.7(PMS2):c.878dup (p.Asn293fs)
|
rs1344095646
|
|
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)
|
rs141577476
|
|
NM_000535.7(PMS2):c.890G>C (p.Cys297Ser)
|
rs869312802
|
|
NM_000535.7(PMS2):c.893A>G (p.Asp298Gly)
|
rs876658970
|
|
NM_000535.7(PMS2):c.895C>A (p.Pro299Thr)
|
rs1562663421
|
|
NM_000535.7(PMS2):c.8G>T (p.Arg3Leu)
|
rs375507981
|
|
NM_000535.7(PMS2):c.903+1G>A
|
rs1554300689
|
|
NM_000535.7(PMS2):c.903+1G>C
|
rs1554300689
|
|
NM_000535.7(PMS2):c.903+1G>T
|
rs1554300689
|
|
NM_000535.7(PMS2):c.903+20_903+21del
|
rs746861817
|
|
NM_000535.7(PMS2):c.903+2T>C
|
rs878854059
|
|
NM_000535.7(PMS2):c.903G>A (p.Lys301=)
|
rs267608153
|
|
NM_000535.7(PMS2):c.903G>C (p.Lys301Asn)
|
|
|
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)
|
rs267608153
|
|
NM_000535.7(PMS2):c.904-1G>A
|
rs779064342
|
|
NM_000535.7(PMS2):c.904-2A>C
|
rs587781339
|
|
NM_000535.7(PMS2):c.904-2A>G
|
rs587781339
|
|
NM_000535.7(PMS2):c.909C>A (p.Cys303Ter)
|
|
|
NM_000535.7(PMS2):c.917T>A (p.Val306Glu)
|
rs786201878
|
|
NM_000535.7(PMS2):c.91G>T (p.Val31Leu)
|
rs786203763
|
|
NM_000535.7(PMS2):c.929A>G (p.Tyr310Cys)
|
rs372172981
|
|
NM_000535.7(PMS2):c.939T>A (p.Tyr313Ter)
|
rs1562651617
|
|
NM_000535.7(PMS2):c.939T>G (p.Tyr313Ter)
|
rs1562651617
|
|
NM_000535.7(PMS2):c.942T>A (p.Asn314Lys)
|
|
|
NM_000535.7(PMS2):c.948C>A (p.His316Gln)
|
rs1219573982
|
|
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys)
|
rs143277125
|
|
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)
|
rs143277125
|
|
NM_000535.7(PMS2):c.955C>T (p.Pro319Ser)
|
rs1248142939
|
|
NM_000535.7(PMS2):c.960del (p.Phe320fs)
|
|
|
NM_000535.7(PMS2):c.972del (p.Asn324fs)
|
|
|
NM_000535.7(PMS2):c.986C>G (p.Ser329Ter)
|
rs1461669945
|
|
NM_000535.7(PMS2):c.988+1G>C
|
rs757110564
|
|
NM_000535.7(PMS2):c.988+1G>T
|
rs757110564
|
|
NM_000535.7(PMS2):c.989-107_989-106insA
|
|
|
NM_000535.7(PMS2):c.989-1G>C
|
|
|
NM_000535.7(PMS2):c.989-1G>T
|
rs587780064
|
|
NM_000535.7(PMS2):c.989-296_1144+706del
|
|
|
NM_000535.7(PMS2):c.989-2A>G
|
rs587779347
|
|
NM_000535.7(PMS2):c.989-3T>C
|
rs1156325177
|
|
NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)
|
|
|
NM_000535.7:(PMS2):c.(1144+1_1145-1)_(2445+1_2446-1)del (p.Asn383Aspfs*7)
|
|
|
NM_000535.7:c.(1144+1_1145-1)_(2174+1_2175-1)dup
|
|
|
NM_000535.7:c.(23+1_24-1)_(988+1_989-1)del
|
|
|
NM_000535.7:c.804-70_2445+71del
|
|
|
NM_001040108.1(MLH3):c.-202A>C
|
rs886050784
|
|
NM_001040108.1(MLH3):c.-208G>A
|
rs886050785
|
|
NM_001040108.2(MLH3):c.*1341del
|
rs5809689
|
|
NM_001040108.2(MLH3):c.*1347T>G
|
rs539246160
|
|
NM_001040108.2(MLH3):c.*1381T>C
|
rs1889846337
|
|
NM_001040108.2(MLH3):c.*1452G>T
|
rs886050771
|
|
NM_001040108.2(MLH3):c.*1566G>A
|
rs1555386072
|
|
NM_001040108.2(MLH3):c.*1628G>A
|
rs571716035
|
|
NM_001040108.2(MLH3):c.*1674T>C
|
rs1889836174
|
|
NM_001040108.2(MLH3):c.*1701del
|
rs886050770
|
|
NM_001040108.2(MLH3):c.*187T>C
|
rs1889916394
|
|
NM_001040108.2(MLH3):c.*2058G>T
|
rs190537801
|
|
NM_001040108.2(MLH3):c.*2086C>T
|
rs886050768
|
|
NM_001040108.2(MLH3):c.*2398C>A
|
rs1889806410
|
|
NM_001040108.2(MLH3):c.*2470C>T
|
rs1889802435
|
|
NM_001040108.2(MLH3):c.*2495C>T
|
rs1889801175
|
|
NM_001040108.2(MLH3):c.*3047G>T
|
rs1033159745
|
|
NM_001040108.2(MLH3):c.*3048del
|
rs886050767
|
|
NM_001040108.2(MLH3):c.*3094C>T
|
rs1243766498
|
|
NM_001040108.2(MLH3):c.*3140C>G
|
rs77514025
|
|
NM_001040108.2(MLH3):c.*541A>G
|
rs1889895952
|
|
NM_001040108.2(MLH3):c.*563A>G
|
rs765593107
|
|
NM_001040108.2(MLH3):c.*744A>G
|
rs886050774
|
|
NM_001040108.2(MLH3):c.*755T>C
|
rs1889885062
|
|
NM_001040108.2(MLH3):c.*797dup
|
rs886050773
|
|
NM_001040108.2(MLH3):c.*884C>G
|
rs1889877324
|
|
NM_001040108.2(MLH3):c.*957_*958delinsAT
|
rs386778871
|
|
NM_001040108.2(MLH3):c.-120G>A
|
rs886050782
|
|
NM_001040108.2(MLH3):c.-27G>A
|
rs886050780
|
|
NM_001040108.2(MLH3):c.-63-10dup
|
rs886050781
|
|
NM_001040108.2(MLH3):c.1018A>G (p.Ile340Val)
|
|
|
NM_001040108.2(MLH3):c.1018A>T (p.Ile340Phe)
|
rs769417120
|
|
NM_001040108.2(MLH3):c.1019T>C (p.Ile340Thr)
|
|
|
NM_001040108.2(MLH3):c.1021del (p.Gln341fs)
|
|
|
NM_001040108.2(MLH3):c.1030G>C (p.Val344Leu)
|
rs758958422
|
|
NM_001040108.2(MLH3):c.1047G>A (p.Lys349=)
|
rs2139590923
|
|
NM_001040108.2(MLH3):c.1067A>C (p.Glu356Ala)
|
|
|
NM_001040108.2(MLH3):c.1076G>A (p.Gly359Asp)
|
|
|
NM_001040108.2(MLH3):c.1077T>C (p.Gly359=)
|
rs2139590456
|
|
NM_001040108.2(MLH3):c.1083T>G (p.Asp361Glu)
|
|
|
NM_001040108.2(MLH3):c.1108G>T (p.Gly370Cys)
|
|
|
NM_001040108.2(MLH3):c.110A>G (p.Glu37Gly)
|
|
|
NM_001040108.2(MLH3):c.1110T>G (p.Gly370=)
|
rs750410588
|
|
NM_001040108.2(MLH3):c.1141C>T (p.Arg381Cys)
|
rs764089461
|
|
NM_001040108.2(MLH3):c.1144G>T (p.Val382Leu)
|
rs558393444
|
|
NM_001040108.2(MLH3):c.1153G>A (p.Asp385Asn)
|
rs201389281
|
|
NM_001040108.2(MLH3):c.1153G>C (p.Asp385His)
|
rs201389281
|
|
NM_001040108.2(MLH3):c.1155T>A (p.Asp385Glu)
|
rs766153014
|
|
NM_001040108.2(MLH3):c.1155T>C (p.Asp385=)
|
rs766153014
|
|
NM_001040108.2(MLH3):c.1159A>T (p.Arg387Trp)
|
rs1259512716
|
|
NM_001040108.2(MLH3):c.1159_1160dup (p.Ser388fs)
|
|
|
NM_001040108.2(MLH3):c.1162A>G (p.Ser388Gly)
|
rs1892425627
|
|
NM_001040108.2(MLH3):c.1181G>A (p.Cys394Tyr)
|
rs1892424087
|
|
NM_001040108.2(MLH3):c.1189_1191del (p.Ile397del)
|
rs777369430
|
|
NM_001040108.2(MLH3):c.1208T>C (p.Met403Thr)
|
rs1594781410
|
|
NM_001040108.2(MLH3):c.1223C>A (p.Ser408Ter)
|
rs745988563
|
|
NM_001040108.2(MLH3):c.1223C>T (p.Ser408Leu)
|
rs745988563
|
|
NM_001040108.2(MLH3):c.1229C>G (p.Ala410Gly)
|
rs930453949
|
|
NM_001040108.2(MLH3):c.1238_1256del (p.Arg413fs)
|
|
|
NM_001040108.2(MLH3):c.1239A>C (p.Arg413Ser)
|
|
|
NM_001040108.2(MLH3):c.123G>T (p.Val41=)
|
|
|
NM_001040108.2(MLH3):c.1249G>T (p.Ala417Ser)
|
rs1892420067
|
|
NM_001040108.2(MLH3):c.1253A>G (p.Glu418Gly)
|
rs916665768
|
|
NM_001040108.2(MLH3):c.1256A>C (p.Asn419Thr)
|
rs1892418940
|
|
NM_001040108.2(MLH3):c.1267_1268del (p.Gln423fs)
|
rs1892416579
|
|
NM_001040108.2(MLH3):c.127G>A (p.Val43Ile)
|
rs554073121
|
|
NM_001040108.2(MLH3):c.1301dup (p.Asn434fs)
|
rs1212794587
|
|
NM_001040108.2(MLH3):c.1313C>A (p.Ala438Glu)
|
|
|
NM_001040108.2(MLH3):c.1313C>T (p.Ala438Val)
|
|
|
NM_001040108.2(MLH3):c.1324A>G (p.Ile442Val)
|
rs1892412042
|
|
NM_001040108.2(MLH3):c.1325T>G (p.Ile442Ser)
|
rs2139585598
|
|
NM_001040108.2(MLH3):c.1328A>G (p.Tyr443Cys)
|
|
|
NM_001040108.2(MLH3):c.1330G>C (p.Glu444Gln)
|
|
|
NM_001040108.2(MLH3):c.1336G>A (p.Gly446Ser)
|
rs1892410798
|
|
NM_001040108.2(MLH3):c.1343C>T (p.Pro448Leu)
|
|
|
NM_001040108.2(MLH3):c.1352G>A (p.Ser451Asn)
|
rs1566607594
|
|
NM_001040108.2(MLH3):c.1352G>C (p.Ser451Thr)
|
rs1566607594
|
|
NM_001040108.2(MLH3):c.1362del (p.Glu455fs)
|
|
|
NM_001040108.2(MLH3):c.1365G>A (p.Glu455=)
|
|
|
NM_001040108.2(MLH3):c.1387A>C (p.Ser463Arg)
|
rs138974583
|
|
NM_001040108.2(MLH3):c.1392T>C (p.Ser464=)
|
rs758511599
|
|
NM_001040108.2(MLH3):c.1397C>A (p.Ser466Ter)
|
rs1594781006
|
|
NM_001040108.2(MLH3):c.1404A>G (p.Ser468=)
|
rs778624382
|
|
NM_001040108.2(MLH3):c.1418A>G (p.Gln473Arg)
|
|
|
NM_001040108.2(MLH3):c.141G>A (p.Met47Ile)
|
|
|
NM_001040108.2(MLH3):c.1424C>A (p.Thr475Lys)
|
rs376219506
|
|
NM_001040108.2(MLH3):c.1426A>C (p.Ile476Leu)
|
|
|
NM_001040108.2(MLH3):c.1426A>T (p.Ile476Phe)
|
|
|
NM_001040108.2(MLH3):c.1434A>G (p.Ala478=)
|
|
|
NM_001040108.2(MLH3):c.1436C>T (p.Ser479Leu)
|
rs1892400504
|
|
NM_001040108.2(MLH3):c.1453G>C (p.Glu485Gln)
|
|
|
NM_001040108.2(MLH3):c.1458A>G (p.Lys486=)
|
rs2139582999
|
|
NM_001040108.2(MLH3):c.1467dup (p.Ser490fs)
|
rs1555345796
|
|
NM_001040108.2(MLH3):c.1468T>C (p.Ser490Pro)
|
rs759885152
|
|
NM_001040108.2(MLH3):c.1470T>C (p.Ser490=)
|
rs1304359193
|
|
NM_001040108.2(MLH3):c.1474C>G (p.Leu492Val)
|
rs28756983
|
|
NM_001040108.2(MLH3):c.147C>T (p.Thr49=)
|
rs2139612558
|
|
NM_001040108.2(MLH3):c.1480C>T (p.His494Tyr)
|
rs2139582511
|
|
NM_001040108.2(MLH3):c.1481A>G (p.His494Arg)
|
rs760778201
|
|
NM_001040108.2(MLH3):c.1482T>C (p.His494=)
|
rs200067582
|
|
NM_001040108.2(MLH3):c.1483A>G (p.Ser495Gly)
|
|
|
NM_001040108.2(MLH3):c.1484G>T (p.Ser495Ile)
|
|
|
NM_001040108.2(MLH3):c.1493A>G (p.Glu498Gly)
|
rs1892394467
|
|
NM_001040108.2(MLH3):c.1494A>G (p.Glu498=)
|
rs2139582159
|
|
NM_001040108.2(MLH3):c.1496A>G (p.Asn499Ser)
|
rs28937871
|
|
NM_001040108.2(MLH3):c.1499C>T (p.Pro500Leu)
|
|
|
NM_001040108.2(MLH3):c.149T>A (p.Phe50Tyr)
|
rs148409389
|
|
NM_001040108.2(MLH3):c.1500G>C (p.Pro500=)
|
|
|
NM_001040108.2(MLH3):c.1521G>A (p.Met507Ile)
|
rs756756799
|
|
NM_001040108.2(MLH3):c.1523T>A (p.Phe508Tyr)
|
rs2139581522
|
|
NM_001040108.2(MLH3):c.1530C>A (p.Ser510Arg)
|
|
|
NM_001040108.2(MLH3):c.1530C>T (p.Ser510=)
|
|
|
NM_001040108.2(MLH3):c.1544C>T (p.Pro515Leu)
|
|
|
NM_001040108.2(MLH3):c.1544del (p.Pro515fs)
|
|
|
NM_001040108.2(MLH3):c.1549C>G (p.His517Asp)
|
|
|
NM_001040108.2(MLH3):c.1549C>T (p.His517Tyr)
|
rs2139580991
|
|
NM_001040108.2(MLH3):c.1552T>G (p.Phe518Val)
|
|
|
NM_001040108.2(MLH3):c.1563T>C (p.Ser521=)
|
|
|
NM_001040108.2(MLH3):c.1564G>A (p.Gly522Arg)
|
rs1594780631
|
|
NM_001040108.2(MLH3):c.1567C>A (p.Gln523Lys)
|
rs759903303
|
|
NM_001040108.2(MLH3):c.1581A>G (p.Ile527Met)
|
rs1892386824
|
|
NM_001040108.2(MLH3):c.1584G>T (p.Trp528Cys)
|
|
|
NM_001040108.2(MLH3):c.1589A>G (p.Glu530Gly)
|
rs2139580147
|
|
NM_001040108.2(MLH3):c.1592G>A (p.Ser531Asn)
|
|
|
NM_001040108.2(MLH3):c.1595C>G (p.Thr532Ser)
|
rs1892385402
|
|
NM_001040108.2(MLH3):c.1600G>A (p.Val534Ile)
|
rs772109972
|
|
NM_001040108.2(MLH3):c.1604A>G (p.Asn535Ser)
|
|
|
NM_001040108.2(MLH3):c.1606G>A (p.Gly536Ser)
|
rs1367614553
|
|
NM_001040108.2(MLH3):c.1608C>A (p.Gly536=)
|
rs2139579764
|
|
NM_001040108.2(MLH3):c.1618A>T (p.Asn540Tyr)
|
|
|
NM_001040108.2(MLH3):c.1622T>C (p.Ile541Thr)
|
rs1594780468
|
|
NM_001040108.2(MLH3):c.1656G>A (p.Lys552=)
|
|
|
NM_001040108.2(MLH3):c.1659A>T (p.Arg553Ser)
|
rs2139578919
|
|
NM_001040108.2(MLH3):c.1670C>T (p.Ala557Val)
|
|
|
NM_001040108.2(MLH3):c.1671T>C (p.Ala557=)
|
rs1043994086
|
|
NM_001040108.2(MLH3):c.1676A>C (p.Glu559Ala)
|
|
|
NM_001040108.2(MLH3):c.167A>G (p.Asp56Gly)
|
|
|
NM_001040108.2(MLH3):c.1683A>T (p.Gly561=)
|
rs1566606687
|
|
NM_001040108.2(MLH3):c.1697C>A (p.Pro566His)
|
|
|
NM_001040108.2(MLH3):c.1702G>A (p.Ala568Thr)
|
|
|
NM_001040108.2(MLH3):c.1705A>G (p.Thr569Ala)
|
rs1169722825
|
|
NM_001040108.2(MLH3):c.1706C>T (p.Thr569Ile)
|
|
|
NM_001040108.2(MLH3):c.170A>G (p.Asn57Ser)
|
|
|
NM_001040108.2(MLH3):c.1710A>G (p.Thr570=)
|
rs2139577823
|
|
NM_001040108.2(MLH3):c.1728T>C (p.Ser576=)
|
|
|
NM_001040108.2(MLH3):c.1735A>T (p.Thr579Ser)
|
|
|
NM_001040108.2(MLH3):c.1737A>G (p.Thr579=)
|
|
|
NM_001040108.2(MLH3):c.1754A>G (p.Lys585Arg)
|
rs1398064873
|
|
NM_001040108.2(MLH3):c.1755dup (p.Glu586fs)
|
rs751465048
|
|
NM_001040108.2(MLH3):c.1770T>A (p.Cys590Ter)
|
rs769773711
|
|
NM_001040108.2(MLH3):c.1776A>G (p.Arg592=)
|
rs745659701
|
|
NM_001040108.2(MLH3):c.1778G>A (p.Arg593Lys)
|
rs1892366400
|
|
NM_001040108.2(MLH3):c.1779A>T (p.Arg593Ser)
|
rs1060503069
|
|
NM_001040108.2(MLH3):c.1780A>G (p.Asn594Asp)
|
|
|
NM_001040108.2(MLH3):c.1781A>G (p.Asn594Ser)
|
rs1183390548
|
|
NM_001040108.2(MLH3):c.1788T>C (p.Phe596=)
|
rs2139576031
|
|
NM_001040108.2(MLH3):c.1789A>G (p.Ser597Gly)
|
rs1237005593
|
|
NM_001040108.2(MLH3):c.178G>A (p.Gly60Arg)
|
|
|
NM_001040108.2(MLH3):c.1790G>T (p.Ser597Ile)
|
rs1892364678
|
|
NM_001040108.2(MLH3):c.1792_1794del (p.Tyr598del)
|
rs758459734
|
|
NM_001040108.2(MLH3):c.1801G>A (p.Val601Ile)
|
rs1555345589
|
|
NM_001040108.2(MLH3):c.180G>A (p.Gly60=)
|
|
|
NM_001040108.2(MLH3):c.1814C>G (p.Ser605Cys)
|
rs1892361991
|
|
NM_001040108.2(MLH3):c.1814C>T (p.Ser605Phe)
|
rs1892361991
|
|
NM_001040108.2(MLH3):c.1825A>C (p.Ile609Leu)
|
rs61755654
|
|
NM_001040108.2(MLH3):c.1825A>G (p.Ile609Val)
|
rs61755654
|
|
NM_001040108.2(MLH3):c.1831C>A (p.His611Asn)
|
|
|
NM_001040108.2(MLH3):c.1855A>G (p.Lys619Glu)
|
rs1555345545
|
|
NM_001040108.2(MLH3):c.1856A>T (p.Lys619Ile)
|
|
|
NM_001040108.2(MLH3):c.1858T>G (p.Ser620Ala)
|
rs878854162
|
|
NM_001040108.2(MLH3):c.1861A>T (p.Thr621Ser)
|
|
|
NM_001040108.2(MLH3):c.1875T>C (p.His625=)
|
rs2139574307
|
|
NM_001040108.2(MLH3):c.1877C>G (p.Ser626Ter)
|
|
|
NM_001040108.2(MLH3):c.1877C>T (p.Ser626Leu)
|
rs370383198
|
|
NM_001040108.2(MLH3):c.1879T>C (p.Phe627Leu)
|
rs765493144
|
|
NM_001040108.2(MLH3):c.1887T>C (p.Asn629=)
|
rs2139574158
|
|
NM_001040108.2(MLH3):c.1888T>G (p.Tyr630Asp)
|
|
|
NM_001040108.2(MLH3):c.1908A>G (p.Thr636=)
|
rs2139573767
|
|
NM_001040108.2(MLH3):c.1918G>C (p.Glu640Gln)
|
rs1892352182
|
|
NM_001040108.2(MLH3):c.1926T>C (p.Phe642=)
|
rs1319967873
|
|
NM_001040108.2(MLH3):c.1928G>A (p.Gly643Glu)
|
rs1892351339
|
|
NM_001040108.2(MLH3):c.1937C>G (p.Thr646Arg)
|
|
|
NM_001040108.2(MLH3):c.193G>C (p.Asp65His)
|
|
|
NM_001040108.2(MLH3):c.1956T>C (p.Thr652=)
|
rs1892348356
|
|
NM_001040108.2(MLH3):c.1959A>G (p.Pro653=)
|
|
|
NM_001040108.2(MLH3):c.196G>A (p.Val66Ile)
|
rs2139611483
|
|
NM_001040108.2(MLH3):c.1976C>T (p.Ala659Val)
|
|
|
NM_001040108.2(MLH3):c.1980C>T (p.Ser660=)
|
rs758562185
|
|
NM_001040108.2(MLH3):c.1981A>T (p.Thr661Ser)
|
|
|
NM_001040108.2(MLH3):c.1982C>T (p.Thr661Ile)
|
rs1892346320
|
|
NM_001040108.2(MLH3):c.1983T>G (p.Thr661=)
|
rs376024613
|
|
NM_001040108.2(MLH3):c.1988_1991del (p.Ser663fs)
|
rs775792922
|
|
NM_001040108.2(MLH3):c.1998T>C (p.Ser666=)
|
|
|
NM_001040108.2(MLH3):c.1A>G (p.Met1Val)
|
|
|
NM_001040108.2(MLH3):c.2021dup (p.Asn674fs)
|
rs767782578
|
|
NM_001040108.2(MLH3):c.2022T>A (p.Asn674Lys)
|
rs544782025
|
|
NM_001040108.2(MLH3):c.2028A>G (p.Arg676=)
|
rs920388892
|
|
NM_001040108.2(MLH3):c.2045G>A (p.Gly682Glu)
|
|
|
NM_001040108.2(MLH3):c.2069C>T (p.Thr690Ile)
|
rs747315256
|
|
NM_001040108.2(MLH3):c.206T>C (p.Val69Ala)
|
rs886050779
|
|
NM_001040108.2(MLH3):c.2076A>C (p.Thr692=)
|
rs1892338323
|
|
NM_001040108.2(MLH3):c.2098G>T (p.Gly700Cys)
|
rs760523617
|
|
NM_001040108.2(MLH3):c.2116del (p.Thr706fs)
|
rs797045117
|
|
NM_001040108.2(MLH3):c.2125A>G (p.Ile709Val)
|
|
|
NM_001040108.2(MLH3):c.2126T>G (p.Ile709Arg)
|
|
|
NM_001040108.2(MLH3):c.2128T>C (p.Leu710=)
|
rs1892333159
|
|
NM_001040108.2(MLH3):c.2130A>G (p.Leu710=)
|
|
|
NM_001040108.2(MLH3):c.2131T>C (p.Ser711Pro)
|
|
|
NM_001040108.2(MLH3):c.2139A>G (p.Thr713=)
|
rs2139569080
|
|
NM_001040108.2(MLH3):c.2143C>T (p.Pro715Ser)
|
|
|
NM_001040108.2(MLH3):c.214C>G (p.Arg72Gly)
|
|
|
NM_001040108.2(MLH3):c.2152C>T (p.Pro718Ser)
|
|
|
NM_001040108.2(MLH3):c.2154dup (p.Trp719fs)
|
|
|
NM_001040108.2(MLH3):c.2157G>A (p.Trp719Ter)
|
rs1566605241
|
|
NM_001040108.2(MLH3):c.215G>A (p.Arg72His)
|
|
|
NM_001040108.2(MLH3):c.2160T>G (p.Tyr720Ter)
|
rs1892328710
|
|
NM_001040108.2(MLH3):c.2161A>G (p.Arg721Gly)
|
|
|
NM_001040108.2(MLH3):c.2162G>A (p.Arg721Lys)
|
rs2139568252
|
|
NM_001040108.2(MLH3):c.2164C>T (p.His722Tyr)
|
|
|
NM_001040108.2(MLH3):c.2168T>C (p.Val723Ala)
|
rs2139568094
|
|
NM_001040108.2(MLH3):c.2175T>A (p.Asn725Lys)
|
rs1892326829
|
|
NM_001040108.2(MLH3):c.2177A>G (p.Asp726Gly)
|
|
|
NM_001040108.2(MLH3):c.2189C>T (p.Thr730Ile)
|
rs1892325359
|
|
NM_001040108.2(MLH3):c.219T>C (p.Tyr73=)
|
rs1285126988
|
|
NM_001040108.2(MLH3):c.2208C>A (p.Phe736Leu)
|
|
|
NM_001040108.2(MLH3):c.2210C>G (p.Ser737Cys)
|
rs2139567278
|
|
NM_001040108.2(MLH3):c.2216C>T (p.Pro739Leu)
|
rs757038362
|
|
NM_001040108.2(MLH3):c.2220C>A (p.Ile740=)
|
|
|
NM_001040108.2(MLH3):c.2220C>T (p.Ile740=)
|
|
|
NM_001040108.2(MLH3):c.2221G>A (p.Val741Ile)
|
rs28756990
|
|
NM_001040108.2(MLH3):c.2224C>G (p.Arg742Gly)
|
|
|
NM_001040108.2(MLH3):c.2254G>A (p.Gly752Arg)
|
rs906500178
|
|
NM_001040108.2(MLH3):c.2266A>C (p.Lys756Gln)
|
|
|
NM_001040108.2(MLH3):c.2277G>A (p.Arg759=)
|
|
|
NM_001040108.2(MLH3):c.2280A>G (p.Gln760=)
|
rs1892316286
|
|
NM_001040108.2(MLH3):c.2284G>A (p.Gly762Arg)
|
rs1394752072
|
|
NM_001040108.2(MLH3):c.2312A>T (p.Glu771Val)
|
|
|
NM_001040108.2(MLH3):c.2313A>T (p.Glu771Asp)
|
|
|
NM_001040108.2(MLH3):c.2337dup (p.Thr780fs)
|
|
|
NM_001040108.2(MLH3):c.2345T>C (p.Leu782Pro)
|
rs1892311173
|
|
NM_001040108.2(MLH3):c.2347A>C (p.Ser783Arg)
|
|
|
NM_001040108.2(MLH3):c.236A>T (p.His79Leu)
|
rs753528013
|
|
NM_001040108.2(MLH3):c.2381A>G (p.Asp794Gly)
|
|
|
NM_001040108.2(MLH3):c.2383A>G (p.Lys795Glu)
|
|
|
NM_001040108.2(MLH3):c.2395G>C (p.Glu799Gln)
|
rs1892306512
|
|
NM_001040108.2(MLH3):c.239C>T (p.Ser80Leu)
|
|
|
NM_001040108.2(MLH3):c.2403T>G (p.Ser801=)
|
|
|
NM_001040108.2(MLH3):c.2411G>A (p.Cys804Tyr)
|
rs2139563242
|
|
NM_001040108.2(MLH3):c.2413A>G (p.Lys805Glu)
|
|
|
NM_001040108.2(MLH3):c.2415A>G (p.Lys805=)
|
|
|
NM_001040108.2(MLH3):c.2422A>G (p.Thr808Ala)
|
rs1892304501
|
|
NM_001040108.2(MLH3):c.242T>C (p.Val81Ala)
|
|
|
NM_001040108.2(MLH3):c.2432A>G (p.His811Arg)
|
rs1892303572
|
|
NM_001040108.2(MLH3):c.2433T>C (p.His811=)
|
|
|
NM_001040108.2(MLH3):c.2444A>T (p.Asp815Val)
|
|
|
NM_001040108.2(MLH3):c.2475_2476delinsGG (p.Asn826Asp)
|
rs2139561968
|
|
NM_001040108.2(MLH3):c.2481A>G (p.Ser827=)
|
rs778936478
|
|
NM_001040108.2(MLH3):c.2482G>T (p.Glu828Ter)
|
rs587776622
|
|
NM_001040108.2(MLH3):c.2487G>T (p.Lys829Asn)
|
|
|
NM_001040108.2(MLH3):c.2488T>C (p.Phe830Leu)
|
rs1892298729
|
|
NM_001040108.2(MLH3):c.2495T>C (p.Phe832Ser)
|
|
|
NM_001040108.2(MLH3):c.2496C>A (p.Phe832Leu)
|
|
|
NM_001040108.2(MLH3):c.2500A>G (p.Lys834Glu)
|
|
|
NM_001040108.2(MLH3):c.2503G>A (p.Asp835Asn)
|
rs766153131
|
|
NM_001040108.2(MLH3):c.2529G>A (p.Met843Ile)
|
|
|
NM_001040108.2(MLH3):c.2542_2543del (p.Glu848fs)
|
|
|
NM_001040108.2(MLH3):c.2543A>G (p.Glu848Gly)
|
|
|
NM_001040108.2(MLH3):c.2555C>T (p.Thr852Ile)
|
rs1594777802
|
|
NM_001040108.2(MLH3):c.2591dup (p.Leu864fs)
|
|
|
NM_001040108.2(MLH3):c.2596C>G (p.Leu866Val)
|
|
|
NM_001040108.2(MLH3):c.2600A>G (p.Glu867Gly)
|
rs1892287229
|
|
NM_001040108.2(MLH3):c.2602A>G (p.Lys868Glu)
|
|
|
NM_001040108.2(MLH3):c.260C>G (p.Pro87Arg)
|
|
|
NM_001040108.2(MLH3):c.260C>T (p.Pro87Leu)
|
|
|
NM_001040108.2(MLH3):c.2633C>G (p.Ser878Cys)
|
|
|
NM_001040108.2(MLH3):c.2636G>C (p.Arg879Thr)
|
|
|
NM_001040108.2(MLH3):c.2640G>A (p.Leu880=)
|
|
|
NM_001040108.2(MLH3):c.2641A>C (p.Lys881Gln)
|
rs766431474
|
|
NM_001040108.2(MLH3):c.2643G>A (p.Lys881=)
|
rs760753507
|
|
NM_001040108.2(MLH3):c.2644G>C (p.Gly882Arg)
|
|
|
NM_001040108.2(MLH3):c.2646T>C (p.Gly882=)
|
|
|
NM_001040108.2(MLH3):c.2660C>T (p.Thr887Ile)
|
rs1595084498
|
|
NM_001040108.2(MLH3):c.2673G>A (p.Gly891=)
|
|
|
NM_001040108.2(MLH3):c.2673G>T (p.Gly891=)
|
|
|
NM_001040108.2(MLH3):c.2676G>C (p.Met892Ile)
|
|
|
NM_001040108.2(MLH3):c.2680A>G (p.Ser894Gly)
|
rs141067131
|
|
NM_001040108.2(MLH3):c.2683C>T (p.Arg895Cys)
|
|
|
NM_001040108.2(MLH3):c.2683del (p.Arg895fs)
|
|
|
NM_001040108.2(MLH3):c.2701A>G (p.Asn901Asp)
|
|
|
NM_001040108.2(MLH3):c.2702A>G (p.Asn901Ser)
|
|
|
NM_001040108.2(MLH3):c.2710_2889del (p.Ser904_Cys963del)
|
rs1892262638
|
|
NM_001040108.2(MLH3):c.2713A>G (p.Ser905Gly)
|
rs1595084225
|
|
NM_001040108.2(MLH3):c.2717G>C (p.Arg906Thr)
|
|
|
NM_001040108.2(MLH3):c.2726G>C (p.Ser909Thr)
|
rs1349770908
|
|
NM_001040108.2(MLH3):c.2741T>A (p.Val914Glu)
|
|
|
NM_001040108.2(MLH3):c.2753A>G (p.Asp918Gly)
|
|
|
NM_001040108.2(MLH3):c.2758T>C (p.Cys920Arg)
|
|
|
NM_001040108.2(MLH3):c.2768T>G (p.Phe923Cys)
|
|
|
NM_001040108.2(MLH3):c.2778G>A (p.Lys926=)
|
|
|
NM_001040108.2(MLH3):c.277C>T (p.Arg93Ter)
|
rs28756978
|
|
NM_001040108.2(MLH3):c.2785A>G (p.Lys929Glu)
|
rs2139555775
|
|
NM_001040108.2(MLH3):c.2793G>C (p.Glu931Asp)
|
|
|
NM_001040108.2(MLH3):c.2793_2794del (p.Asn932fs)
|
rs754716792
|
|
NM_001040108.2(MLH3):c.2795A>G (p.Asn932Ser)
|
|
|
NM_001040108.2(MLH3):c.2800G>A (p.Val934Ile)
|
|
|
NM_001040108.2(MLH3):c.281G>A (p.Gly94Glu)
|
rs759973402
|
|
NM_001040108.2(MLH3):c.2826A>G (p.Thr942=)
|
|
|
NM_001040108.2(MLH3):c.2837C>T (p.Ser946Phe)
|
rs201441389
|
|
NM_001040108.2(MLH3):c.2842A>C (p.Asn948His)
|
rs1892266280
|
|
NM_001040108.2(MLH3):c.285G>C (p.Glu95Asp)
|
rs369067732
|
|
NM_001040108.2(MLH3):c.2870G>A (p.Ser957Asn)
|
|
|
NM_001040108.2(MLH3):c.2887T>C (p.Cys963Arg)
|
|
|
NM_001040108.2(MLH3):c.2887T>G (p.Cys963Gly)
|
rs1892263113
|
|
NM_001040108.2(MLH3):c.2888G>C (p.Cys963Ser)
|
|
|
NM_001040108.2(MLH3):c.2890G>A (p.Val964Met)
|
|
|
NM_001040108.2(MLH3):c.2896T>A (p.Ser966Thr)
|
|
|
NM_001040108.2(MLH3):c.2902del (p.Thr968fs)
|
rs780017030
|
|
NM_001040108.2(MLH3):c.2911G>C (p.Val971Leu)
|
rs41555714
|
|
NM_001040108.2(MLH3):c.2923A>G (p.Asn975Asp)
|
|
|
NM_001040108.2(MLH3):c.2929T>G (p.Ser977Ala)
|
rs747777498
|
|
NM_001040108.2(MLH3):c.2937T>C (p.Val979=)
|
|
|
NM_001040108.2(MLH3):c.2937del (p.Thr980fs)
|
rs758226404
|
|
NM_001040108.2(MLH3):c.2953G>A (p.Asp985Asn)
|
rs1566602747
|
|
NM_001040108.2(MLH3):c.2954A>C (p.Asp985Ala)
|
rs761266398
|
|
NM_001040108.2(MLH3):c.2956G>A (p.Val986Ile)
|
rs1892251952
|
|
NM_001040108.2(MLH3):c.2962A>G (p.Ile988Val)
|
|
|
NM_001040108.2(MLH3):c.2964C>T (p.Ile988=)
|
|
|
NM_001040108.2(MLH3):c.2984T>C (p.Ile995Thr)
|
|
|
NM_001040108.2(MLH3):c.2986G>A (p.Gly996Arg)
|
|
|
NM_001040108.2(MLH3):c.2987G>A (p.Gly996Glu)
|
rs886050775
|
|
NM_001040108.2(MLH3):c.2989A>C (p.Ser997Arg)
|
rs2139550718
|
|
NM_001040108.2(MLH3):c.3009A>G (p.Gly1003=)
|
rs2139550261
|
|
NM_001040108.2(MLH3):c.3021T>C (p.Asn1007=)
|
rs1360064914
|
|
NM_001040108.2(MLH3):c.3022C>G (p.Pro1008Ala)
|
rs2139550006
|
|
NM_001040108.2(MLH3):c.3023C>T (p.Pro1008Leu)
|
|
|
NM_001040108.2(MLH3):c.3029A>G (p.Glu1010Gly)
|
rs1555344919
|
|
NM_001040108.2(MLH3):c.3035C>T (p.Ala1012Val)
|
|
|
NM_001040108.2(MLH3):c.3047A>T (p.Gln1016Leu)
|
|
|
NM_001040108.2(MLH3):c.304G>A (p.Asp102Asn)
|
|
|
NM_001040108.2(MLH3):c.3052G>A (p.Gly1018Arg)
|
|
|
NM_001040108.2(MLH3):c.3053G>T (p.Gly1018Val)
|
|
|
NM_001040108.2(MLH3):c.305A>G (p.Asp102Gly)
|
|
|
NM_001040108.2(MLH3):c.3065del (p.Gln1022fs)
|
rs1566602423
|
|
NM_001040108.2(MLH3):c.3068G>A (p.Ser1023Asn)
|
rs1480199553
|
|
NM_001040108.2(MLH3):c.3069T>C (p.Ser1023=)
|
|
|
NM_001040108.2(MLH3):c.3084A>C (p.Ala1028=)
|
|
|
NM_001040108.2(MLH3):c.3087A>G (p.Arg1029=)
|
rs1555344899
|
|
NM_001040108.2(MLH3):c.3106G>C (p.Glu1036Gln)
|
rs1555344886
|
|
NM_001040108.2(MLH3):c.3113dup (p.Asn1038fs)
|
|
|
NM_001040108.2(MLH3):c.3116C>T (p.Thr1039Met)
|
|
|
NM_001040108.2(MLH3):c.3132G>A (p.Trp1044Ter)
|
|
|
NM_001040108.2(MLH3):c.3148G>A (p.Val1050Ile)
|
|
|
NM_001040108.2(MLH3):c.3154del (p.Leu1052fs)
|
rs745657036
|
|
NM_001040108.2(MLH3):c.3164T>C (p.Met1055Thr)
|
rs1026561200
|
|
NM_001040108.2(MLH3):c.3164T>G (p.Met1055Arg)
|
rs1026561200
|
|
NM_001040108.2(MLH3):c.3173T>G (p.Val1058Gly)
|
|
|
NM_001040108.2(MLH3):c.3194G>A (p.Ser1065Asn)
|
rs1355183567
|
|
NM_001040108.2(MLH3):c.3198A>G (p.Thr1066=)
|
rs1402014356
|
|
NM_001040108.2(MLH3):c.31G>A (p.Ala11Thr)
|
rs2139615082
|
|
NM_001040108.2(MLH3):c.3211A>G (p.Thr1071Ala)
|
rs1595082664
|
|
NM_001040108.2(MLH3):c.3219C>T (p.Asp1073=)
|
|
|
NM_001040108.2(MLH3):c.3220A>T (p.Ile1074Phe)
|
|
|
NM_001040108.2(MLH3):c.3226G>A (p.Ala1076Thr)
|
|
|
NM_001040108.2(MLH3):c.3226G>C (p.Ala1076Pro)
|
|
|
NM_001040108.2(MLH3):c.3230C>T (p.Ala1077Val)
|
|
|
NM_001040108.2(MLH3):c.3238A>C (p.Lys1080Gln)
|
rs747582919
|
|
NM_001040108.2(MLH3):c.3238A>G (p.Lys1080Glu)
|
|
|
NM_001040108.2(MLH3):c.3246G>C (p.Leu1082=)
|
|
|
NM_001040108.2(MLH3):c.3249A>G (p.Thr1083=)
|
|
|
NM_001040108.2(MLH3):c.3254T>C (p.Val1085Ala)
|
rs1204014345
|
|
NM_001040108.2(MLH3):c.3274G>A (p.Glu1092Lys)
|
|
|
NM_001040108.2(MLH3):c.3280+14A>G
|
|
|
NM_001040108.2(MLH3):c.3280+20G>A
|
rs2139543149
|
|
NM_001040108.2(MLH3):c.3280+4A>G
|
rs755203976
|
|
NM_001040108.2(MLH3):c.3281-7T>C
|
|
|
NM_001040108.2(MLH3):c.3281-8A>T
|
rs376532114
|
|
NM_001040108.2(MLH3):c.3292A>G (p.Arg1098Gly)
|
|
|
NM_001040108.2(MLH3):c.3292del (p.Arg1098fs)
|
|
|
NM_001040108.2(MLH3):c.3294G>C (p.Arg1098Ser)
|
|
|
NM_001040108.2(MLH3):c.3294G>T (p.Arg1098Ser)
|
rs1060503068
|
|
NM_001040108.2(MLH3):c.3300A>G (p.Gln1100=)
|
|
|
NM_001040108.2(MLH3):c.3302C>A (p.Pro1101His)
|
|
|
NM_001040108.2(MLH3):c.3306T>C (p.Phe1102=)
|
|
|
NM_001040108.2(MLH3):c.3310A>C (p.Ser1104Arg)
|
rs1595075344
|
|
NM_001040108.2(MLH3):c.3316C>T (p.Leu1106Phe)
|
|
|
NM_001040108.2(MLH3):c.3344G>C (p.Arg1115Pro)
|
|
|
NM_001040108.2(MLH3):c.3347C>G (p.Ala1116Gly)
|
|
|
NM_001040108.2(MLH3):c.3355A>G (p.Thr1119Ala)
|
|
|
NM_001040108.2(MLH3):c.3358G>A (p.Val1120Met)
|
|
|
NM_001040108.2(MLH3):c.3359_3360del (p.Val1120fs)
|
rs763171207
|
|
NM_001040108.2(MLH3):c.3368A>C (p.Gln1123Pro)
|
|
|
NM_001040108.2(MLH3):c.3374A>G (p.Asn1125Ser)
|
rs2139504673
|
|
NM_001040108.2(MLH3):c.3377G>C (p.Arg1126Thr)
|
|
|
NM_001040108.2(MLH3):c.3379+20C>G
|
|
|
NM_001040108.2(MLH3):c.3379+4A>C
|
rs1309915500
|
|
NM_001040108.2(MLH3):c.3379+4A>G
|
|
|
NM_001040108.2(MLH3):c.3379G>T (p.Asp1127Tyr)
|
rs1891914283
|
|
NM_001040108.2(MLH3):c.3380-10T>A
|
rs2139496713
|
|
NM_001040108.2(MLH3):c.3380-12C>T
|
|
|
NM_001040108.2(MLH3):c.3380-17G>A
|
|
|
NM_001040108.2(MLH3):c.3381T>A (p.Asp1127Glu)
|
|
|
NM_001040108.2(MLH3):c.3389A>G (p.Asp1130Gly)
|
rs1891868618
|
|
NM_001040108.2(MLH3):c.3396T>C (p.Thr1132=)
|
|
|
NM_001040108.2(MLH3):c.3399T>C (p.Val1133=)
|
|
|
NM_001040108.2(MLH3):c.3400A>G (p.Ser1134Gly)
|
|
|
NM_001040108.2(MLH3):c.3404G>A (p.Ser1135Asn)
|
rs1595073793
|
|
NM_001040108.2(MLH3):c.3405C>A (p.Ser1135Arg)
|
|
|
NM_001040108.2(MLH3):c.3405_3406delinsTC (p.Glu1136Gln)
|
|
|
NM_001040108.2(MLH3):c.3410C>T (p.Ser1137Leu)
|
rs781462940
|
|
NM_001040108.2(MLH3):c.3413T>C (p.Leu1138Pro)
|
rs1566596824
|
|
NM_001040108.2(MLH3):c.3423G>A (p.Leu1141=)
|
rs2139494058
|
|
NM_001040108.2(MLH3):c.3428C>G (p.Ser1143Ter)
|
rs1891864615
|
|
NM_001040108.2(MLH3):c.3444A>G (p.Pro1148=)
|
|
|
NM_001040108.2(MLH3):c.3450T>C (p.Phe1150=)
|
|
|
NM_001040108.2(MLH3):c.3451G>C (p.Ala1151Pro)
|
rs1891862567
|
|
NM_001040108.2(MLH3):c.3451G>T (p.Ala1151Ser)
|
|
|
NM_001040108.2(MLH3):c.3452C>T (p.Ala1151Val)
|
rs1555344011
|
|
NM_001040108.2(MLH3):c.3454C>T (p.Arg1152Cys)
|
|
|
NM_001040108.2(MLH3):c.3465+14A>G
|
rs775972214
|
|
NM_001040108.2(MLH3):c.3465+3G>A
|
|
|
NM_001040108.2(MLH3):c.3465+4G>T
|
|
|
NM_001040108.2(MLH3):c.3465+9G>A
|
|
|
NM_001040108.2(MLH3):c.3466-2A>G
|
|
|
NM_001040108.2(MLH3):c.3475G>C (p.Asp1159His)
|
rs755836944
|
|
NM_001040108.2(MLH3):c.3478G>A (p.Val1160Ile)
|
|
|
NM_001040108.2(MLH3):c.3498G>A (p.Glu1166=)
|
|
|
NM_001040108.2(MLH3):c.349A>G (p.Met117Val)
|
|
|
NM_001040108.2(MLH3):c.34A>G (p.Lys12Glu)
|
rs1892532750
|
|
NM_001040108.2(MLH3):c.3503T>C (p.Leu1168Ser)
|
|
|
NM_001040108.2(MLH3):c.3508G>A (p.Val1170Ile)
|
rs2139474091
|
|
NM_001040108.2(MLH3):c.3518ACA[1] (p.Asn1174del)
|
rs2139473855
|
|
NM_001040108.2(MLH3):c.3528G>A (p.Leu1176=)
|
rs1051361984
|
|
NM_001040108.2(MLH3):c.3531T>A (p.Tyr1177Ter)
|
rs2139473674
|
|
NM_001040108.2(MLH3):c.3533C>T (p.Pro1178Leu)
|
|
|
NM_001040108.2(MLH3):c.3536A>G (p.Tyr1179Cys)
|
rs1891720886
|
|
NM_001040108.2(MLH3):c.3538C>G (p.Arg1180Gly)
|
rs761024324
|
|
NM_001040108.2(MLH3):c.3548A>G (p.Lys1183Arg)
|
|
|
NM_001040108.2(MLH3):c.3551G>A (p.Gly1184Glu)
|
|
|
NM_001040108.2(MLH3):c.3554T>A (p.Met1185Lys)
|
|
|
NM_001040108.2(MLH3):c.356C>T (p.Thr119Ile)
|
rs2139607474
|
|
NM_001040108.2(MLH3):c.3571-15T>C
|
|
|
NM_001040108.2(MLH3):c.3571-1G>T
|
|
|
NM_001040108.2(MLH3):c.3571-9G>A
|
|
|
NM_001040108.2(MLH3):c.3578A>G (p.Gln1193Arg)
|
rs1891571171
|
|
NM_001040108.2(MLH3):c.3583G>A (p.Val1195Ile)
|
rs1891570676
|
|
NM_001040108.2(MLH3):c.3584T>C (p.Val1195Ala)
|
|
|
NM_001040108.2(MLH3):c.3584T>G (p.Val1195Gly)
|
|
|
NM_001040108.2(MLH3):c.3585A>C (p.Val1195=)
|
rs1595065923
|
|
NM_001040108.2(MLH3):c.3589A>C (p.Asn1197His)
|
|
|
NM_001040108.2(MLH3):c.3608T>C (p.Leu1203Ser)
|
rs761468610
|
|
NM_001040108.2(MLH3):c.3616A>G (p.Thr1206Ala)
|
|
|
NM_001040108.2(MLH3):c.3639G>A (p.Glu1213=)
|
rs1215630711
|
|
NM_001040108.2(MLH3):c.3640G>A (p.Ala1214Thr)
|
rs2139454669
|
|
NM_001040108.2(MLH3):c.3643+10G>A
|
rs1231755836
|
|
NM_001040108.2(MLH3):c.3643+16A>G
|
|
|
NM_001040108.2(MLH3):c.3643+5G>A
|
rs2139454564
|
|
NM_001040108.2(MLH3):c.3643+6_3643+12del
|
rs2139454483
|
|
NM_001040108.2(MLH3):c.3644-16A>G
|
|
|
NM_001040108.2(MLH3):c.3644-20C>T
|
|
|
NM_001040108.2(MLH3):c.3644-5T>C
|
rs2139413400
|
|
NM_001040108.2(MLH3):c.3644-6A>G
|
rs776538240
|
|
NM_001040108.2(MLH3):c.3644-7C>T
|
|
|
NM_001040108.2(MLH3):c.3648G>T (p.Gly1216=)
|
|
|
NM_001040108.2(MLH3):c.3653T>A (p.Leu1218Gln)
|
rs1208714560
|
|
NM_001040108.2(MLH3):c.3654G>A (p.Leu1218=)
|
rs2139413262
|
|
NM_001040108.2(MLH3):c.3657C>T (p.Leu1219=)
|
|
|
NM_001040108.2(MLH3):c.3664G>A (p.Val1222Met)
|
|
|
NM_001040108.2(MLH3):c.3678T>G (p.Ala1226=)
|
|
|
NM_001040108.2(MLH3):c.3681C>T (p.Ala1227=)
|
|
|
NM_001040108.2(MLH3):c.3687G>A (p.Glu1229=)
|
|
|
NM_001040108.2(MLH3):c.3695G>A (p.Arg1232His)
|
|
|
NM_001040108.2(MLH3):c.3712A>G (p.Ile1238Val)
|
rs2139412376
|
|
NM_001040108.2(MLH3):c.3713T>C (p.Ile1238Thr)
|
|
|
NM_001040108.2(MLH3):c.3715+10T>C
|
|
|
NM_001040108.2(MLH3):c.3715+16C>T
|
|
|
NM_001040108.2(MLH3):c.3715+18G>A
|
|
|
NM_001040108.2(MLH3):c.3715+1G>A
|
rs1595056532
|
|
NM_001040108.2(MLH3):c.3715+8T>A
|
rs2139412218
|
|
NM_001040108.2(MLH3):c.3715G>A (p.Asp1239Asn)
|
|
|
NM_001040108.2(MLH3):c.3716-16A>G
|
|
|
NM_001040108.2(MLH3):c.3725A>G (p.Glu1242Gly)
|
|
|
NM_001040108.2(MLH3):c.3726G>A (p.Glu1242=)
|
|
|
NM_001040108.2(MLH3):c.3740A>T (p.Gln1247Leu)
|
rs909033868
|
|
NM_001040108.2(MLH3):c.3749G>A (p.Gly1250Asp)
|
rs931917554
|
|
NM_001040108.2(MLH3):c.3759A>G (p.Lys1253=)
|
rs779804105
|
|
NM_001040108.2(MLH3):c.3770C>G (p.Ser1257Cys)
|
rs2139401367
|
|
NM_001040108.2(MLH3):c.3772A>G (p.Thr1258Ala)
|
|
|
NM_001040108.2(MLH3):c.3775C>A (p.Leu1259Ile)
|
|
|
NM_001040108.2(MLH3):c.3775C>G (p.Leu1259Val)
|
|
|
NM_001040108.2(MLH3):c.3781C>T (p.Pro1261Ser)
|
rs1891088976
|
|
NM_001040108.2(MLH3):c.3785C>T (p.Pro1262Leu)
|
|
|
NM_001040108.2(MLH3):c.3786G>A (p.Pro1262=)
|
rs28757027
|
|
NM_001040108.2(MLH3):c.3790G>A (p.Glu1264Lys)
|
rs760000437
|
|
NM_001040108.2(MLH3):c.3799G>A (p.Val1267Met)
|
rs1019973266
|
|
NM_001040108.2(MLH3):c.3803C>A (p.Thr1268Lys)
|
|
|
NM_001040108.2(MLH3):c.3803C>G (p.Thr1268Arg)
|
|
|
NM_001040108.2(MLH3):c.3827+11C>T
|
|
|
NM_001040108.2(MLH3):c.3827+1G>C
|
|
|
NM_001040108.2(MLH3):c.3827+20T>G
|
|
|
NM_001040108.2(MLH3):c.3827+9del
|
rs2139400494
|
|
NM_001040108.2(MLH3):c.3828-7T>A
|
|
|
NM_001040108.2(MLH3):c.3830G>C (p.Cys1277Ser)
|
|
|
NM_001040108.2(MLH3):c.3840A>C (p.Lys1280Asn)
|
rs918215098
|
|
NM_001040108.2(MLH3):c.3841A>G (p.Asn1281Asp)
|
|
|
NM_001040108.2(MLH3):c.3863A>C (p.Glu1288Ala)
|
|
|
NM_001040108.2(MLH3):c.388C>T (p.Leu130=)
|
|
|
NM_001040108.2(MLH3):c.3890C>A (p.Ser1297Tyr)
|
|
|
NM_001040108.2(MLH3):c.3893_3894insAGAG (p.Val1299fs)
|
|
|
NM_001040108.2(MLH3):c.3898C>G (p.Leu1300Val)
|
rs2139385883
|
|
NM_001040108.2(MLH3):c.3901G>A (p.Val1301Met)
|
|
|
NM_001040108.2(MLH3):c.3903G>A (p.Val1301=)
|
|
|
NM_001040108.2(MLH3):c.3904G>A (p.Gly1302Arg)
|
|
|
NM_001040108.2(MLH3):c.3909A>G (p.Lys1303=)
|
|
|
NM_001040108.2(MLH3):c.3922_3926del (p.Phe1308fs)
|
|
|
NM_001040108.2(MLH3):c.3928G>C (p.Glu1310Gln)
|
rs1595050855
|
|
NM_001040108.2(MLH3):c.3935A>C (p.Glu1312Ala)
|
rs1890982249
|
|
NM_001040108.2(MLH3):c.3943G>A (p.Glu1315Lys)
|
|
|
NM_001040108.2(MLH3):c.3949C>T (p.Arg1317Trp)
|
|
|
NM_001040108.2(MLH3):c.3951G>T (p.Arg1317=)
|
rs1228068239
|
|
NM_001040108.2(MLH3):c.3959G>T (p.Arg1320Ile)
|
|
|
NM_001040108.2(MLH3):c.3960A>G (p.Arg1320=)
|
|
|
NM_001040108.2(MLH3):c.3966T>C (p.Thr1322=)
|
|
|
NM_001040108.2(MLH3):c.397T>G (p.Cys133Gly)
|
rs1555346244
|
|
NM_001040108.2(MLH3):c.3983T>C (p.Val1328Ala)
|
rs1890975310
|
|
NM_001040108.2(MLH3):c.3988-14C>G
|
rs2139329191
|
|
NM_001040108.2(MLH3):c.3988G>A (p.Glu1330Lys)
|
rs1890393091
|
|
NM_001040108.2(MLH3):c.3997del (p.Arg1333fs)
|
|
|
NM_001040108.2(MLH3):c.3998G>A (p.Arg1333Gln)
|
|
|
NM_001040108.2(MLH3):c.39G>A (p.Leu13=)
|
rs1594784114
|
|
NM_001040108.2(MLH3):c.4001A>G (p.Glu1334Gly)
|
rs1555387525
|
|
NM_001040108.2(MLH3):c.4005A>T (p.Gln1335His)
|
|
|
NM_001040108.2(MLH3):c.4009G>A (p.Glu1337Lys)
|
rs1595034312
|
|
NM_001040108.2(MLH3):c.4011+10T>C
|
|
|
NM_001040108.2(MLH3):c.4012-15G>A
|
|
|
NM_001040108.2(MLH3):c.4012-18A>G
|
rs1330240884
|
|
NM_001040108.2(MLH3):c.402A>G (p.Glu134=)
|
rs545763648
|
|
NM_001040108.2(MLH3):c.4042A>G (p.Thr1348Ala)
|
rs1890379975
|
|
NM_001040108.2(MLH3):c.4063A>G (p.Lys1355Glu)
|
|
|
NM_001040108.2(MLH3):c.4074A>C (p.Ala1358=)
|
rs1555387475
|
|
NM_001040108.2(MLH3):c.4088A>G (p.His1363Arg)
|
|
|
NM_001040108.2(MLH3):c.4090+10del
|
rs1198596878
|
|
NM_001040108.2(MLH3):c.4090+18G>A
|
|
|
NM_001040108.2(MLH3):c.4090+2T>C
|
rs1890375980
|
|
NM_001040108.2(MLH3):c.4090+7C>G
|
|
|
NM_001040108.2(MLH3):c.4091-13_4091-10del
|
|
|
NM_001040108.2(MLH3):c.4091-2A>C
|
rs906969002
|
|
NM_001040108.2(MLH3):c.4092G>A (p.Gly1364=)
|
rs1555386745
|
|
NM_001040108.2(MLH3):c.4107T>C (p.Asn1369=)
|
rs1595024075
|
|
NM_001040108.2(MLH3):c.4117A>C (p.Ser1373Arg)
|
|
|
NM_001040108.2(MLH3):c.412A>G (p.Thr138Ala)
|
|
|
NM_001040108.2(MLH3):c.414T>G (p.Thr138=)
|
|
|
NM_001040108.2(MLH3):c.4150C>G (p.Leu1384Val)
|
rs1025736417
|
|
NM_001040108.2(MLH3):c.4150_4151del (p.Leu1384fs)
|
rs1162704717
|
|
NM_001040108.2(MLH3):c.4163A>G (p.Gln1388Arg)
|
|
|
NM_001040108.2(MLH3):c.4163A>T (p.Gln1388Leu)
|
|
|
NM_001040108.2(MLH3):c.4175A>G (p.Gln1392Arg)
|
|
|
NM_001040108.2(MLH3):c.4176G>C (p.Gln1392His)
|
|
|
NM_001040108.2(MLH3):c.4176G>T (p.Gln1392His)
|
|
|
NM_001040108.2(MLH3):c.4190G>A (p.Arg1397Lys)
|
|
|
NM_001040108.2(MLH3):c.4193C>T (p.Pro1398Leu)
|
|
|
NM_001040108.2(MLH3):c.4195_4197del (p.Ser1399del)
|
|
|
NM_001040108.2(MLH3):c.4198A>G (p.Met1400Val)
|
rs375559867
|
|
NM_001040108.2(MLH3):c.4199T>C (p.Met1400Thr)
|
|
|
NM_001040108.2(MLH3):c.4217_4218del (p.Ile1406fs)
|
rs1410621557
|
|
NM_001040108.2(MLH3):c.4225T>G (p.Leu1409Val)
|
rs1890074696
|
|
NM_001040108.2(MLH3):c.4238_4242+1dup
|
|
|
NM_001040108.2(MLH3):c.4239A>G (p.Lys1413=)
|
rs975447813
|
|
NM_001040108.2(MLH3):c.4242+14dup
|
rs2139295563
|
|
NM_001040108.2(MLH3):c.4243-10C>A
|
|
|
NM_001040108.2(MLH3):c.4243-15T>G
|
|
|
NM_001040108.2(MLH3):c.4243-16T>C
|
|
|
NM_001040108.2(MLH3):c.424G>A (p.Ala142Thr)
|
rs745639930
|
|
NM_001040108.2(MLH3):c.424G>T (p.Ala142Ser)
|
rs745639930
|
|
NM_001040108.2(MLH3):c.4251C>T (p.Pro1417=)
|
|
|
NM_001040108.2(MLH3):c.4258A>G (p.Thr1420Ala)
|
|
|
NM_001040108.2(MLH3):c.425C>T (p.Ala142Val)
|
rs1892494189
|
|
NM_001040108.2(MLH3):c.4267C>T (p.Arg1423Cys)
|
|
|
NM_001040108.2(MLH3):c.4273A>G (p.Met1425Val)
|
|
|
NM_001040108.2(MLH3):c.4275G>C (p.Met1425Ile)
|
|
|
NM_001040108.2(MLH3):c.4275G>T (p.Met1425Ile)
|
|
|
NM_001040108.2(MLH3):c.4276G>T (p.Ala1426Ser)
|
|
|
NM_001040108.2(MLH3):c.4281_4282delinsCA (p.Gln1427_Ala1428delinsHisThr)
|
|
|
NM_001040108.2(MLH3):c.4284_4291del (p.Trp1429fs)
|
|
|
NM_001040108.2(MLH3):c.4288C>T (p.Arg1430Cys)
|
rs987273805
|
|
NM_001040108.2(MLH3):c.4289G>T (p.Arg1430Leu)
|
rs760305520
|
|
NM_001040108.2(MLH3):c.4289_4293del (p.Arg1430fs)
|
rs1450109980
|
|
NM_001040108.2(MLH3):c.4291C>T (p.Leu1431Phe)
|
|
|
NM_001040108.2(MLH3):c.4293C>G (p.Leu1431=)
|
|
|
NM_001040108.2(MLH3):c.4307A>T (p.Glu1436Val)
|
rs1297572379
|
|
NM_001040108.2(MLH3):c.4324A>G (p.Ser1442Gly)
|
rs368866849
|
|
NM_001040108.2(MLH3):c.4326C>T (p.Ser1442=)
|
rs1377285175
|
|
NM_001040108.2(MLH3):c.4329G>A (p.Leu1443=)
|
|
|
NM_001040108.2(MLH3):c.4335A>T (p.Gln1445His)
|
|
|
NM_001040108.2(MLH3):c.4347C>T (p.Pro1449=)
|
rs2139282721
|
|
NM_001040108.2(MLH3):c.4351G>C (p.Glu1451Gln)
|
rs28939071
|
|
NM_001040108.2(MLH3):c.4354C>T (p.Pro1452Ser)
|
|
|
NM_001040108.2(MLH3):c.4357C>T (p.Pro1453Ser)
|
rs1889930562
|
|
NM_001040108.2(MLH3):c.4358C>T (p.Pro1453Leu)
|
|
|
NM_001040108.2(MLH3):c.440C>T (p.Thr147Ile)
|
|
|
NM_001040108.2(MLH3):c.454T>G (p.Phe152Val)
|
rs750745575
|
|
NM_001040108.2(MLH3):c.470T>C (p.Val157Ala)
|
rs1892490042
|
|
NM_001040108.2(MLH3):c.471A>C (p.Val157=)
|
|
|
NM_001040108.2(MLH3):c.476G>A (p.Arg159Lys)
|
rs1892489444
|
|
NM_001040108.2(MLH3):c.476G>C (p.Arg159Thr)
|
rs1892489444
|
|
NM_001040108.2(MLH3):c.486G>A (p.Met162Ile)
|
rs2139605007
|
|
NM_001040108.2(MLH3):c.487dup (p.Asp163fs)
|
rs1566609884
|
|
NM_001040108.2(MLH3):c.496C>T (p.Leu166=)
|
|
|
NM_001040108.2(MLH3):c.510G>T (p.Lys170Asn)
|
|
|
NM_001040108.2(MLH3):c.511G>T (p.Val171Phe)
|
rs2139604418
|
|
NM_001040108.2(MLH3):c.519G>C (p.Gln173His)
|
rs1060503070
|
|
NM_001040108.2(MLH3):c.526G>C (p.Glu176Gln)
|
|
|
NM_001040108.2(MLH3):c.529G>A (p.Ala177Thr)
|
rs1176881826
|
|
NM_001040108.2(MLH3):c.540C>T (p.Leu180=)
|
rs1041937445
|
|
NM_001040108.2(MLH3):c.546C>T (p.His182=)
|
|
|
NM_001040108.2(MLH3):c.548C>T (p.Pro183Leu)
|
|
|
NM_001040108.2(MLH3):c.552del (p.Ile185fs)
|
|
|
NM_001040108.2(MLH3):c.561C>G (p.Phe187Leu)
|
rs1892481050
|
|
NM_001040108.2(MLH3):c.564T>G (p.Ser188=)
|
rs2139603362
|
|
NM_001040108.2(MLH3):c.574G>T (p.Asp192Tyr)
|
|
|
NM_001040108.2(MLH3):c.585T>G (p.Gly195=)
|
rs778567041
|
|
NM_001040108.2(MLH3):c.603C>T (p.Leu201=)
|
|
|
NM_001040108.2(MLH3):c.60C>T (p.Ser20=)
|
|
|
NM_001040108.2(MLH3):c.615del (p.Asp206fs)
|
rs746171271
|
|
NM_001040108.2(MLH3):c.620T>C (p.Val207Ala)
|
rs1892474385
|
|
NM_001040108.2(MLH3):c.622T>C (p.Cys208Arg)
|
rs770150549
|
|
NM_001040108.2(MLH3):c.651G>C (p.Leu217Phe)
|
|
|
NM_001040108.2(MLH3):c.662A>G (p.Gln221Arg)
|
|
|
NM_001040108.2(MLH3):c.666G>C (p.Lys222Asn)
|
|
|
NM_001040108.2(MLH3):c.671G>A (p.Arg224Lys)
|
|
|
NM_001040108.2(MLH3):c.680G>A (p.Ser227Asn)
|
|
|
NM_001040108.2(MLH3):c.683T>G (p.Phe228Cys)
|
|
|
NM_001040108.2(MLH3):c.702G>C (p.Glu234Asp)
|
|
|
NM_001040108.2(MLH3):c.707G>A (p.Ser236Asn)
|
rs1594782527
|
|
NM_001040108.2(MLH3):c.711C>T (p.Gly237=)
|
|
|
NM_001040108.2(MLH3):c.713A>G (p.Tyr238Cys)
|
rs144707485
|
|
NM_001040108.2(MLH3):c.715A>G (p.Ile239Val)
|
rs568118559
|
|
NM_001040108.2(MLH3):c.716T>G (p.Ile239Ser)
|
|
|
NM_001040108.2(MLH3):c.71A>G (p.Gln24Arg)
|
rs2139614337
|
|
NM_001040108.2(MLH3):c.724G>A (p.Glu242Lys)
|
rs1892465052
|
|
NM_001040108.2(MLH3):c.735CAA[1] (p.Asn246del)
|
rs774010757
|
|
NM_001040108.2(MLH3):c.743A>G (p.Asn248Ser)
|
rs1358270074
|
|
NM_001040108.2(MLH3):c.749A>G (p.Gln250Arg)
|
|
|
NM_001040108.2(MLH3):c.758_761del (p.Leu252_Phe253insTer)
|
|
|
NM_001040108.2(MLH3):c.76G>T (p.Val26Phe)
|
rs964651295
|
|
NM_001040108.2(MLH3):c.774A>G (p.Leu258=)
|
rs2139599520
|
|
NM_001040108.2(MLH3):c.782G>A (p.Arg261Lys)
|
|
|
NM_001040108.2(MLH3):c.782G>T (p.Arg261Met)
|
rs2139599422
|
|
NM_001040108.2(MLH3):c.787A>T (p.Lys263Ter)
|
|
|
NM_001040108.2(MLH3):c.799C>G (p.Leu267Val)
|
|
|
NM_001040108.2(MLH3):c.825A>C (p.Glu275Asp)
|
rs1040135404
|
|
NM_001040108.2(MLH3):c.825A>G (p.Glu275=)
|
rs1040135404
|
|
NM_001040108.2(MLH3):c.826del (p.Ser276fs)
|
rs2139598363
|
|
NM_001040108.2(MLH3):c.828TAT[1] (p.Ile278del)
|
rs2139598111
|
|
NM_001040108.2(MLH3):c.829A>G (p.Ile277Val)
|
rs2139598210
|
|
NM_001040108.2(MLH3):c.832A>T (p.Ile278Leu)
|
rs753294129
|
|
NM_001040108.2(MLH3):c.833T>C (p.Ile278Thr)
|
|
|
NM_001040108.2(MLH3):c.842C>G (p.Pro281Arg)
|
|
|
NM_001040108.2(MLH3):c.843A>G (p.Pro281=)
|
|
|
NM_001040108.2(MLH3):c.844A>T (p.Lys282Ter)
|
rs2139597638
|
|
NM_001040108.2(MLH3):c.848A>G (p.Asn283Ser)
|
rs1336838076
|
|
NM_001040108.2(MLH3):c.849T>C (p.Asn283=)
|
rs376836787
|
|
NM_001040108.2(MLH3):c.858C>A (p.Thr286=)
|
rs2139597118
|
|
NM_001040108.2(MLH3):c.868A>G (p.Met290Val)
|
rs1594782103
|
|
NM_001040108.2(MLH3):c.880C>G (p.Leu294Val)
|
rs372192067
|
|
NM_001040108.2(MLH3):c.885G>A (p.Arg295=)
|
|
|
NM_001040108.2(MLH3):c.885del (p.His296fs)
|
rs1431264077
|
|
NM_001040108.2(MLH3):c.886C>T (p.His296Tyr)
|
rs2139595991
|
|
NM_001040108.2(MLH3):c.910G>A (p.Gly304Ser)
|
|
|
NM_001040108.2(MLH3):c.917A>G (p.Tyr306Cys)
|
rs2139594612
|
|
NM_001040108.2(MLH3):c.946G>C (p.Glu316Gln)
|
|
|
NM_001040108.2(MLH3):c.948G>A (p.Glu316=)
|
rs750723376
|
|
NM_001040108.2(MLH3):c.950ATG[1] (p.Asp318del)
|
rs1892443767
|
|
NM_001040108.2(MLH3):c.956T>A (p.Val319Glu)
|
|
|
NM_001040108.2(MLH3):c.961A>G (p.Met321Val)
|
rs886050778
|
|
NM_001040108.2(MLH3):c.964G>C (p.Glu322Gln)
|
|
|
NM_001040108.2(MLH3):c.965A>G (p.Glu322Gly)
|
|
|
NM_001040108.2(MLH3):c.96C>T (p.Asn32=)
|
rs2139613729
|
|
NM_001040108.2(MLH3):c.971C>G (p.Ala324Gly)
|
|
|
NM_001040108.2(MLH3):c.977C>T (p.Thr326Ile)
|
rs1892441207
|
|
NM_001040108.2(MLH3):c.97A>G (p.Ser33Gly)
|
rs770219274
|
|
NM_001040108.2(MLH3):c.98G>A (p.Ser33Asn)
|
rs2139613635
|
|
NM_001048174.2(MUTYH):c.730C>T (p.Pro244Ser)
|
rs786201772
|
|
NM_001190274.2(FBXO11):c.*906G>T
|
rs1572751620
|
|
NM_001190274.2(FBXO11):c.1076A>G (p.Asn359Ser)
|
rs1572806551
|
|
NM_001190274.2(FBXO11):c.2227+1329A>G
|
rs2537742
|
|
NM_001354621.2(MLH1):c.-139-2804_-139-2801del
|
rs267607799
|
|
NM_001354629.2(MLH1):c.208-3445_208-3433del
|
rs1057517543
|
|
NM_001354629.2(MLH1):c.208-3445_208-3439del
|
rs730881734
|
|
NM_002354.2(EPCAM):c.(?_-1)_858+?dup
|
|
|
NM_002354.2(EPCAM):c.859-1430_*2033del
|
|
|
NM_002354.2(EPCAM):c.859-1462_*1999del
|
|
|
NM_002354.2(EPCAM):c.859-?_*415+?dup
|
|
|
NM_002354.2(EPCAM):c.859-?_*415del
|
|
|
NM_002354.2(EPCAM):c.904-?_945+?del
|
|
|
NM_002354.3(EPCAM):c.*147dup
|
rs886056132
|
|
NM_002354.3(EPCAM):c.-1C>G
|
rs533255660
|
|
NM_002354.3(EPCAM):c.-2_77del (p.Met1fs)
|
rs2103737908
|
|
NM_002354.3(EPCAM):c.214G>A (p.Glu72Lys)
|
|
|
NM_002354.3(EPCAM):c.267G>C (p.Gln89His)
|
rs146480420
|
|
NM_002354.3(EPCAM):c.299A>G (p.Asp100Gly)
|
rs587780557
|
|
NM_002354.3(EPCAM):c.344T>A (p.Met115Lys)
|
rs1126497
|
|
NM_002354.3(EPCAM):c.344_345inv (p.Met115Thr)
|
|
|
NM_002354.3(EPCAM):c.413G>A (p.Arg138Gln)
|
|
|
NM_002354.3(EPCAM):c.45GGCGAC[1] (p.16AT[1])
|
rs878854490
|
|
NM_002354.3(EPCAM):c.45_65del (p.Thr17_Ala23del)
|
rs864622092
|
|
NM_002354.3(EPCAM):c.50C>A (p.Thr17Lys)
|
rs116429842
|
|
NM_002354.3(EPCAM):c.50C>T (p.Thr17Met)
|
rs116429842
|
|
NM_002354.3(EPCAM):c.527T>C (p.Leu176Pro)
|
|
|
NM_002354.3(EPCAM):c.595TCT[1] (p.Ser200del)
|
rs863224840
|
|
NM_002354.3(EPCAM):c.597T>C (p.Ser199=)
|
rs587780770
|
|
NM_002354.3(EPCAM):c.64G>A (p.Ala22Thr)
|
rs2103738227
|
|
NM_002354.3(EPCAM):c.730C>G (p.Pro244Ala)
|
rs755757555
|
|
NM_002354.3(EPCAM):c.76+5G>A
|
rs863224712
|
|
NM_002354.3(EPCAM):c.764A>C (p.Lys255Thr)
|
rs587780771
|
|
NM_002354.3(EPCAM):c.849T>G (p.Ile283Met)
|
|
|
NM_002354.3(EPCAM):c.849TGT[1] (p.Val285del)
|
rs1424757619
|
|
NM_002354.3(EPCAM):c.859-6A>C
|
rs150307203
|
|
NM_002354.3(EPCAM):c.903+5A>G
|
rs199784016
|
|
NM_002354.3(EPCAM):c.904-1_904del
|
rs2103770769
|
|
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)
|
rs104893813
|
|
NM_003242.6(TGFBR2):c.1126G>A (p.Val376Met)
|
rs755967723
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1436G>A (p.Arg479Gln)
|
rs1553631704
|
|
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)
|
rs104893819
|
|
NM_003242.6(TGFBR2):c.1490G>A (p.Arg497Gln)
|
rs200958264
|
|
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)
|
rs104893815
|
|
NM_003242.6(TGFBR2):c.1601_1602dup (p.Ala535fs)
|
rs587776769
|
|
NM_003242.6(TGFBR2):c.1682G>C (p.Gly561Ala)
|
rs1559473531
|
|
NM_003242.6(TGFBR2):c.1A>G (p.Met1Val)
|
rs933114782
|
|
NM_003242.6(TGFBR2):c.215G>A (p.Ser72Asn)
|
rs764941621
|
|
NM_003242.6(TGFBR2):c.383dup (p.Pro129fs)
|
rs79375991
|
|
NM_003242.6(TGFBR2):c.413G>A (p.Cys138Tyr)
|
rs1559458957
|
|
NM_003242.6(TGFBR2):c.568C>G (p.Arg190Gly)
|
rs758703490
|
|
NM_003242.6(TGFBR2):c.760C>T (p.Arg254Cys)
|
rs863223856
|
|
NM_003242.6(TGFBR2):c.797A>G (p.Asn266Ser)
|
rs753184709
|
|
NM_003242.6(TGFBR2):c.913C>T (p.Leu305Phe)
|
rs1553630171
|
|
NM_003242.6(TGFBR2):c.928G>A (p.Ala310Thr)
|
rs1553630181
|
|
NM_003242.6(TGFBR2):c.967C>G (p.Leu323Val)
|
rs781018006
|
|
NM_006309.4(LRRFIP2):c.*272G>A
|
rs10849
|
|
NM_007194.4(CHEK2):c.1189del (p.Val397fs)
|
|
|
NM_022055.2(KCNK12):c.*8388G>T
|
rs1573613933
|
|
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs)
|
rs180177099
|
|
NM_024675.4(PALB2):c.3314_3315del (p.Val1105fs)
|
rs2142271759
|
|
NR_030286.1(MIR559):n.278_23134del
|
|
|
Single allele
|
|
|