NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)
|
rs63750451
|
0.00002
|
NM_000179.3(MSH6):c.1346T>C (p.Leu449Pro)
|
rs63750741
|
0.00001
|
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)
|
rs63750909
|
0.00001
|
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)
|
rs63751017
|
0.00001
|
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)
|
rs63749999
|
0.00001
|
NM_000179.3(MSH6):c.3487G>T (p.Glu1163Ter)
|
rs587779267
|
0.00001
|
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)
|
rs63750767
|
0.00001
|
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)
|
rs63749873
|
0.00001
|
NM_000179.3(MSH6):c.651dup (p.Lys218Ter)
|
rs63750955
|
0.00001
|
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)
|
rs146816935
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)
|
rs63751221
|
0.00001
|
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg)
|
rs267607995
|
0.00001
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)
|
rs63751422
|
0.00001
|
NM_000535.7(PMS2):c.2174+1G>A
|
rs267608172
|
0.00001
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
0.00001
|
NM_000535.7(PMS2):c.593dup (p.Arg199fs)
|
rs267608148
|
0.00001
|
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
|
rs200640585
|
0.00001
|
MLH1:c.(?_-198)_207+?del
|
|
|
MLH1:c.(?_-198)_306+?del
|
|
|
NM_000179.2(MSH6):c.(?_-152)_(*93_?)del
|
|
|
NM_000179.2(MSH6):c.(?_-152)_457+?del
|
|
|
NM_000179.2(MSH6):c.-11863_457+1921del
|
|
|
NM_000179.2(MSH6):c.-3097_457+2010del
|
|
|
NM_000179.2(MSH6):c.3438+797_3438+798insTATins1839_3438+797
|
|
|
NM_000179.2(MSH6):c.3557-?_(*93_?)del
|
|
|
NM_000179.2(MSH6):c.3953_3954ins32 (p.?)
|
|
|
NM_000179.2(MSH6):c.458-?_627+?del
|
|
|
NM_000179.3(MSH6):c.1085del (p.Pro362fs)
|
rs267608056
|
|
NM_000179.3(MSH6):c.1100A>G (p.His367Arg)
|
rs1553412495
|
|
NM_000179.3(MSH6):c.1101del (p.His367fs)
|
rs587779203
|
|
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.1190_1191del (p.Tyr397fs)
|
rs63750439
|
|
NM_000179.3(MSH6):c.1193T>A (p.Val398Glu)
|
rs587779208
|
|
NM_000179.3(MSH6):c.1276del (p.Cys426fs)
|
rs587779209
|
|
NM_000179.3(MSH6):c.1299T>A (p.Tyr433Ter)
|
rs267608055
|
|
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs)
|
rs63750854
|
|
NM_000179.3(MSH6):c.1439T>A (p.Val480Glu)
|
rs1244531716
|
|
NM_000179.3(MSH6):c.1477G>T (p.Glu493Ter)
|
rs267608046
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)
|
rs587779215
|
|
NM_000179.3(MSH6):c.1580del (p.Leu527fs)
|
rs63751090
|
|
NM_000179.3(MSH6):c.1590del (p.Ser532fs)
|
rs587779216
|
|
NM_000179.3(MSH6):c.1596dup (p.Glu533Ter)
|
rs587779217
|
|
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.1628_1629del (p.Lys543fs)
|
rs587779219
|
|
NM_000179.3(MSH6):c.1632_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.1784del (p.Leu595fs)
|
rs267608050
|
|
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs)
|
rs63750735
|
|
NM_000179.3(MSH6):c.1819dup (p.Thr607fs)
|
rs587779221
|
|
NM_000179.3(MSH6):c.1835C>A (p.Ser612Ter)
|
rs63750564
|
|
NM_000179.3(MSH6):c.1869del (p.Gly624fs)
|
rs71539659
|
|
NM_000179.3(MSH6):c.1901_1902del (p.Thr633_Leu634insTer)
|
rs267608082
|
|
NM_000179.3(MSH6):c.1957_1960dup (p.Met654fs)
|
rs63751167
|
|
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.2061T>A (p.Cys687Ter)
|
rs267608068
|
|
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs)
|
rs63750075
|
|
NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter)
|
rs63751419
|
|
NM_000179.3(MSH6):c.2127T>A (p.Tyr709Ter)
|
rs587779232
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
NM_000179.3(MSH6):c.2191C>T (p.Gln731Ter)
|
rs63751442
|
|
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)
|
rs63751127
|
|
NM_000179.3(MSH6):c.2300C>T (p.Thr767Ile)
|
rs587781462
|
|
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)
|
rs63750138
|
|
NM_000179.3(MSH6):c.2330G>A (p.Trp777Ter)
|
rs587779234
|
|
NM_000179.3(MSH6):c.2348_2349del (p.Leu782_Cys783insTer)
|
rs267608065
|
|
NM_000179.3(MSH6):c.2379_2380del (p.Ala794fs)
|
rs587779237
|
|
NM_000179.3(MSH6):c.2503C>T (p.Gln835Ter)
|
rs63751321
|
|
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter)
|
rs587779241
|
|
NM_000179.3(MSH6):c.2569_2572del (p.Asp857fs)
|
rs587779243
|
|
NM_000179.3(MSH6):c.2611_2614dup (p.Ile872fs)
|
rs63750357
|
|
NM_000179.3(MSH6):c.2672_2674delinsC (p.Ile891fs)
|
rs587779244
|
|
NM_000179.3(MSH6):c.2714T>A (p.Leu905Ter)
|
rs587779245
|
|
NM_000179.3(MSH6):c.2719_2720del (p.Val907fs)
|
rs63750904
|
|
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)
|
rs587779246
|
|
NM_000179.3(MSH6):c.2765del (p.Arg922fs)
|
rs587779247
|
|
NM_000179.3(MSH6):c.2768dup (p.Thr924fs)
|
rs267608063
|
|
NM_000179.3(MSH6):c.2815C>T (p.Gln939Ter)
|
rs63750140
|
|
NM_000179.3(MSH6):c.2851_2858del (p.Leu951fs)
|
rs63750940
|
|
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter)
|
rs63750111
|
|
NM_000179.3(MSH6):c.2945del (p.Pro982fs)
|
rs587779250
|
|
NM_000179.3(MSH6):c.2976del (p.Glu993fs)
|
rs587779251
|
|
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)
|
rs63750258
|
|
NM_000179.3(MSH6):c.2984del (p.Glu995fs)
|
rs63749938
|
|
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)
|
rs63750563
|
|
NM_000179.3(MSH6):c.3020G>A (p.Trp1007Ter)
|
rs587779252
|
|
NM_000179.3(MSH6):c.3053_3054del (p.Leu1018fs)
|
rs63751407
|
|
NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter)
|
rs267608059
|
|
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer)
|
rs267608042
|
|
NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs)
|
rs63750833
|
|
NM_000179.3(MSH6):c.3173-1_3173del
|
rs587779256
|
|
NM_000179.3(MSH6):c.3173-433_3556+228del
|
|
|
NM_000179.3(MSH6):c.3182del (p.Leu1061fs)
|
rs63750196
|
|
NM_000179.3(MSH6):c.3188T>G (p.Leu1063Arg)
|
rs1060502901
|
|
NM_000179.3(MSH6):c.3195_3198del (p.Asn1065fs)
|
rs267608085
|
|
NM_000179.3(MSH6):c.3198_3199dup (p.Ser1067fs)
|
rs63749821
|
|
NM_000179.3(MSH6):c.3221del (p.Met1074fs)
|
rs267608090
|
|
NM_000179.3(MSH6):c.3259_3260insT (p.Pro1087fs)
|
rs587779258
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3263dup (p.Glu1090fs)
|
rs267608091
|
|
NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs)
|
rs587779259
|
|
NM_000179.3(MSH6):c.3273dup (p.Lys1092Ter)
|
rs267608095
|
|
NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3312del (p.Phe1104fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3320del (p.Asp1107fs)
|
rs63750377
|
|
NM_000179.3(MSH6):c.3324dup (p.Ile1109fs)
|
rs267608088
|
|
NM_000179.3(MSH6):c.3341_3342insC (p.Ile1115fs)
|
rs587779260
|
|
NM_000179.3(MSH6):c.3355G>T (p.Glu1119Ter)
|
rs267608084
|
|
NM_000179.3(MSH6):c.3367G>T (p.Glu1123Ter)
|
rs267608086
|
|
NM_000179.3(MSH6):c.3379_3438+5del
|
rs1553331676
|
|
NM_000179.3(MSH6):c.3436C>T (p.Gln1146Ter)
|
rs63750356
|
|
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.3516_3519del (p.Arg1172fs)
|
rs267608099
|
|
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.3609_3612del (p.His1203fs)
|
rs587779274
|
|
NM_000179.3(MSH6):c.3632T>C (p.Leu1211Pro)
|
rs864622041
|
|
NM_000179.3(MSH6):c.3635dup (p.Asp1213fs)
|
rs63750731
|
|
NM_000179.3(MSH6):c.3647-1G>A
|
rs587779279
|
|
NM_000179.3(MSH6):c.3647-2A>C
|
rs267608111
|
|
NM_000179.3(MSH6):c.3678_3706dup (p.Ala1236delinsGluTer)
|
rs1553332996
|
|
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3725_3737del (p.Arg1242fs)
|
rs587779287
|
|
NM_000179.3(MSH6):c.3729_3732dup (p.Phe1245fs)
|
rs587779288
|
|
NM_000179.3(MSH6):c.3757_3758insA (p.Val1253fs)
|
rs587779289
|
|
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.3798_3801+26del
|
rs587779291
|
|
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs)
|
rs267608114
|
|
NM_000179.3(MSH6):c.3804dup (p.Cys1269fs)
|
rs267608118
|
|
NM_000179.3(MSH6):c.3821_3824dup (p.Cys1275Ter)
|
rs63750262
|
|
NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter)
|
rs63750139
|
|
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)
|
rs63751319
|
|
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs)
|
rs267608128
|
|
NM_000179.3(MSH6):c.3887_3893del (p.Lys1296fs)
|
rs267608130
|
|
NM_000179.3(MSH6):c.3918dup (p.Asn1307Ter)
|
rs1553333594
|
|
NM_000179.3(MSH6):c.3920_3927dup (p.Glu1310fs)
|
rs587779295
|
|
NM_000179.3(MSH6):c.3932_3935dup (p.Ile1313fs)
|
rs267608127
|
|
NM_000179.3(MSH6):c.3938_3941dup (p.Gln1314fs)
|
rs267608126
|
|
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)
|
rs267608120
|
|
NM_000179.3(MSH6):c.3969_3979del (p.Phe1323fs)
|
rs587779299
|
|
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.3996_4000dup (p.Arg1334fs)
|
rs587779301
|
|
NM_000179.3(MSH6):c.4001+2T>C
|
rs267608131
|
|
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)
|
rs267608122
|
|
NM_000179.3(MSH6):c.4002-31_4002-8inv
|
|
|
NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)
|
rs63750342
|
|
NM_000179.3(MSH6):c.457+2T>A
|
rs267608036
|
|
NM_000179.3(MSH6):c.522_523del (p.Arg174fs)
|
rs267608037
|
|
NM_000179.3(MSH6):c.599C>A (p.Ser200Ter)
|
rs63751077
|
|
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.652A>T (p.Lys218Ter)
|
rs587779315
|
|
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)
|
rs587779318
|
|
NM_000179.3(MSH6):c.706C>T (p.Gln236Ter)
|
rs63750996
|
|
NM_000179.3(MSH6):c.710del (p.Gly237fs)
|
rs587779319
|
|
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)
|
rs63750019
|
|
NM_000179.3(MSH6):c.730C>T (p.Gln244Ter)
|
rs267608066
|
|
NM_000179.3(MSH6):c.738_739insT (p.Lys247Ter)
|
rs587779320
|
|
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)
|
rs63749980
|
|
NM_000179.3(MSH6):c.755C>G (p.Ser252Ter)
|
rs267608048
|
|
NM_000179.3(MSH6):c.762_763del (p.Glu255_Ser256insTer)
|
rs267608072
|
|
NM_000179.3(MSH6):c.814G>T (p.Glu272Ter)
|
rs63750552
|
|
NM_000179.3(MSH6):c.845dup (p.Asp284fs)
|
rs1553412283
|
|
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.-381_207+606del
|
|
|
NM_000249.3(MLH1):c.-54519_1731+2263del
|
|
|
NM_000249.3(MLH1):c.-73960_*46597del
|
|
|
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.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.1732-?_(*193_?)del
|
|
|
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-?_545+?del
|
|
|
NM_000249.3(MLH1):c.381-?_545+?del
|
|
|
NM_000249.3(MLH1):c.454-?_545+?del
|
|
|
NM_000249.3(MLH1):c.546-?_1409+?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_000249.4(MLH1):c.1007del (p.Gly336fs)
|
rs63750434
|
|
NM_000249.4(MLH1):c.1011del (p.Asn338fs)
|
rs63750677
|
|
NM_000249.4(MLH1):c.1011dup (p.Asn338fs)
|
rs63750677
|
|
NM_000249.4(MLH1):c.1017del (p.Ser340fs)
|
rs63750339
|
|
NM_000249.4(MLH1):c.1023del (p.Met342fs)
|
rs63749837
|
|
NM_000249.4(MLH1):c.1026dup (p.Tyr343fs)
|
rs587778881
|
|
NM_000249.4(MLH1):c.102_103del (p.Glu34fs)
|
rs63749813
|
|
NM_000249.4(MLH1):c.1037A>G (p.Gln346Arg)
|
rs63751609
|
|
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.1039-2329_1409+827del
|
|
|
NM_000249.4(MLH1):c.1039-674_1409+27del
|
|
|
NM_000249.4(MLH1):c.1046dup (p.Pro350fs)
|
rs267607822
|
|
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.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.109G>T (p.Glu37Ter)
|
rs63751012
|
|
NM_000249.4(MLH1):c.1101del (p.Ser368fs)
|
rs63750715
|
|
NM_000249.4(MLH1):c.1128_1129dup (p.Lys377fs)
|
rs63750305
|
|
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.113A>G (p.Asn38Ser)
|
rs587778888
|
|
NM_000249.4(MLH1):c.1145dup (p.Met383fs)
|
rs587778889
|
|
NM_000249.4(MLH1):c.114C>G (p.Asn38Lys)
|
rs267607706
|
|
NM_000249.4(MLH1):c.1150del (p.Val384fs)
|
rs63749965
|
|
NM_000249.4(MLH1):c.116+5G>C
|
rs267607710
|
|
NM_000249.4(MLH1):c.117-2A>G
|
rs267607712
|
|
NM_000249.4(MLH1):c.117-691_306+1011del
|
|
|
NM_000249.4(MLH1):c.1171C>T (p.Gln391Ter)
|
rs587778894
|
|
NM_000249.4(MLH1):c.1190del (p.Leu397fs)
|
rs63750749
|
|
NM_000249.4(MLH1):c.1192C>T (p.Gln398Ter)
|
rs63750483
|
|
NM_000249.4(MLH1):c.119del (p.Cys39_Leu40insTer)
|
rs587778896
|
|
NM_000249.4(MLH1):c.1210_1211del (p.Leu404fs)
|
rs63751015
|
|
NM_000249.4(MLH1):c.1210dup (p.Leu404fs)
|
rs587778898
|
|
NM_000249.4(MLH1):c.1217_1223dup (p.Gln409fs)
|
rs587778899
|
|
NM_000249.4(MLH1):c.1218del (p.Gln407fs)
|
rs587778900
|
|
NM_000249.4(MLH1):c.121G>C (p.Asp41His)
|
rs267607713
|
|
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.1252_1253del (p.Asp418fs)
|
rs63751118
|
|
NM_000249.4(MLH1):c.1261del (p.Ser421fs)
|
rs63750293
|
|
NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter)
|
rs63750316
|
|
NM_000249.4(MLH1):c.128_131dup (p.Thr45fs)
|
rs63751431
|
|
NM_000249.4(MLH1):c.1310del (p.Pro437fs)
|
rs63750748
|
|
NM_000249.4(MLH1):c.131C>T (p.Ser44Phe)
|
rs63751109
|
|
NM_000249.4(MLH1):c.1334del (p.Gln445fs)
|
rs63749845
|
|
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.1354del (p.Thr452fs)
|
rs63750071
|
|
NM_000249.4(MLH1):c.1362del (p.Thr455fs)
|
rs267607821
|
|
NM_000249.4(MLH1):c.1362dup (p.Thr455fs)
|
rs267607821
|
|
NM_000249.4(MLH1):c.1377del (p.Glu460fs)
|
rs587778908
|
|
NM_000249.4(MLH1):c.1377dup (p.Glu460fs)
|
rs63750020
|
|
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.1398del (p.Ser467fs)
|
rs63750713
|
|
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>C
|
rs267607825
|
|
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.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.1420del (p.Arg474fs)
|
rs63750482
|
|
NM_000249.4(MLH1):c.142C>T (p.Gln48Ter)
|
rs587778913
|
|
NM_000249.4(MLH1):c.1449del (p.Asp484fs)
|
rs587778915
|
|
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.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.150dup (p.Val51fs)
|
rs63749956
|
|
NM_000249.4(MLH1):c.1520del (p.Val506_Leu507insTer)
|
rs63749916
|
|
NM_000249.4(MLH1):c.1520dup (p.Leu507fs)
|
rs63749916
|
|
NM_000249.4(MLH1):c.1528C>T (p.Gln510Ter)
|
rs63749923
|
|
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.1549G>T (p.Gly517Ter)
|
rs63751705
|
|
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>T
|
rs267607832
|
|
NM_000249.4(MLH1):c.1559-1322_1668-391del
|
|
|
NM_000249.4(MLH1):c.1559-1G>T
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-2A>G
|
rs267607836
|
|
NM_000249.4(MLH1):c.1559-2A>T
|
rs267607836
|
|
NM_000249.4(MLH1):c.155_158del (p.Lys52fs)
|
rs587778923
|
|
NM_000249.4(MLH1):c.156del (p.Glu53fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.156dup (p.Glu53fs)
|
rs63750028
|
|
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.1588_1590del (p.Phe530del)
|
rs587778930
|
|
NM_000249.4(MLH1):c.1592_1593del (p.Val531fs)
|
rs587778931
|
|
NM_000249.4(MLH1):c.15_28del (p.Gly6fs)
|
rs63751891
|
|
NM_000249.4(MLH1):c.1609C>T (p.Gln537Ter)
|
rs63751277
|
|
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.161_164del (p.Gly54fs)
|
rs587778932
|
|
NM_000249.4(MLH1):c.161del (p.Gly54fs)
|
rs63751266
|
|
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.1639_1643dup (p.Leu549fs)
|
rs587778934
|
|
NM_000249.4(MLH1):c.1640T>A (p.Leu547Ter)
|
rs63750300
|
|
NM_000249.4(MLH1):c.1644C>G (p.Tyr548Ter)
|
rs63751087
|
|
NM_000249.4(MLH1):c.1649T>C (p.Leu550Pro)
|
rs63750193
|
|
NM_000249.4(MLH1):c.1664_1665insAAGT (p.Ser556_Glu557insTer)
|
rs267607699
|
|
NM_000249.4(MLH1):c.1667+2_1667+8delinsATTT
|
rs587778938
|
|
NM_000249.4(MLH1):c.1667G>T (p.Ser556Ile)
|
rs63751596
|
|
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.1683C>G (p.Tyr561Ter)
|
rs63751393
|
|
NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter)
|
rs63751460
|
|
NM_000249.4(MLH1):c.1689dup (p.Leu564fs)
|
rs63750464
|
|
NM_000249.4(MLH1):c.1690_1693del (p.Leu564fs)
|
rs267607849
|
|
NM_000249.4(MLH1):c.1717_1718del (p.Val573fs)
|
rs63751709
|
|
NM_000249.4(MLH1):c.1725del (p.Arg575fs)
|
rs63751685
|
|
NM_000249.4(MLH1):c.1731+1G>A
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+270_1896+73del
|
|
|
NM_000249.4(MLH1):c.1731+5G>A
|
rs267607850
|
|
NM_000249.4(MLH1):c.1731+768_1897-222del
|
|
|
NM_000249.4(MLH1):c.1731G>A (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>T
|
rs267607852
|
|
NM_000249.4(MLH1):c.1745T>C (p.Leu582Pro)
|
rs63751616
|
|
NM_000249.4(MLH1):c.1745del (p.Leu582fs)
|
rs587778942
|
|
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.1758del (p.Met587fs)
|
rs63749863
|
|
NM_000249.4(MLH1):c.1758dup (p.Met587fs)
|
rs63749863
|
|
NM_000249.4(MLH1):c.175dup (p.Ile59fs)
|
rs587778944
|
|
NM_000249.4(MLH1):c.1764del (p.Ala589fs)
|
rs63751486
|
|
NM_000249.4(MLH1):c.1769del (p.Ala589_Leu590insTer)
|
rs63749979
|
|
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs)
|
rs63749868
|
|
NM_000249.4(MLH1):c.1778_1779del (p.Pro593fs)
|
rs63750375
|
|
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs)
|
rs63750035
|
|
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter)
|
rs63750604
|
|
NM_000249.4(MLH1):c.1800_1818del (p.Glu600fs)
|
rs587778946
|
|
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.1829_1832dup (p.Val612fs)
|
rs587778948
|
|
NM_000249.4(MLH1):c.1831_1832del (p.Ile611fs)
|
rs63750150
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
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.1853delinsTTCTT (p.Lys618fs)
|
rs587778949
|
|
NM_000249.4(MLH1):c.1855del (p.Ala619fs)
|
rs63749986
|
|
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.1866del (p.Ala623fs)
|
rs587778950
|
|
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.1880_1883del (p.Ser627fs)
|
rs587778953
|
|
NM_000249.4(MLH1):c.1884_1888del (p.Leu628fs)
|
rs63751639
|
|
NM_000249.4(MLH1):c.1893del (p.Asp631fs)
|
rs587778954
|
|
NM_000249.4(MLH1):c.1896G>A (p.Glu632=)
|
rs63751632
|
|
NM_000249.4(MLH1):c.189C>A (p.Asp63Glu)
|
rs587778955
|
|
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.190_191del (p.Asn64fs)
|
rs63750469
|
|
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.191dup (p.Asn64fs)
|
rs63751255
|
|
NM_000249.4(MLH1):c.1920_1921insT (p.Leu641fs)
|
rs587778961
|
|
NM_000249.4(MLH1):c.1930del (p.Asp644fs)
|
rs587778962
|
|
NM_000249.4(MLH1):c.1942C>T (p.Pro648Ser)
|
rs63750899
|
|
NM_000249.4(MLH1):c.1946del (p.Pro649fs)
|
rs281864938
|
|
NM_000249.4(MLH1):c.1953_1956del (p.Glu651fs)
|
rs63751301
|
|
NM_000249.4(MLH1):c.195del (p.Thr66fs)
|
rs267607715
|
|
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu)
|
rs63750726
|
|
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.1986_1989+1delinsC
|
rs267607873
|
|
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>T
|
rs267607879
|
|
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.1990-1G>A
|
rs267607884
|
|
NM_000249.4(MLH1):c.1990-2A>G
|
rs267607883
|
|
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>T (p.Gly67Trp)
|
rs63750206
|
|
NM_000249.4(MLH1):c.19_35del (p.Val7fs)
|
rs267607702
|
|
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.2011G>T (p.Glu671Ter)
|
rs63750663
|
|
NM_000249.4(MLH1):c.201del (p.Ile68fs)
|
rs587778968
|
|
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)
|
rs587778971
|
|
NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter)
|
rs63749867
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000249.4(MLH1):c.205del (p.Arg69fs)
|
rs63751704
|
|
NM_000249.4(MLH1):c.2067_2073del (p.Gln689fs)
|
rs63750420
|
|
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.208-1_208del
|
rs587778973
|
|
NM_000249.4(MLH1):c.208-2A>G
|
rs267607716
|
|
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter)
|
rs63749995
|
|
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.2099_2102del (p.Gln700fs)
|
rs63751652
|
|
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)
|
rs63750114
|
|
NM_000249.4(MLH1):c.2103+1G>A
|
rs267607888
|
|
NM_000249.4(MLH1):c.2103G>C (p.Gln701His)
|
rs63750603
|
|
NM_000249.4(MLH1):c.2104-2A>T
|
rs267607889
|
|
NM_000249.4(MLH1):c.2105_2114del (p.Ser702fs)
|
rs587778979
|
|
NM_000249.4(MLH1):c.210AGA[1] (p.Glu71del)
|
rs63751642
|
|
NM_000249.4(MLH1):c.210_213del
|
rs267607723
|
|
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.2135G>A (p.Trp712Ter)
|
rs63750561
|
|
NM_000249.4(MLH1):c.2136G>A (p.Trp712Ter)
|
rs63750499
|
|
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)
|
rs63751022
|
|
NM_000249.4(MLH1):c.2147_2148del (p.Val716fs)
|
rs587778981
|
|
NM_000249.4(MLH1):c.2149_2195dup (p.His733fs)
|
rs587778982
|
|
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.2157dup (p.Val720fs)
|
rs587778984
|
|
NM_000249.4(MLH1):c.2163T>A (p.Tyr721Ter)
|
rs63750484
|
|
NM_000249.4(MLH1):c.2179_2182del (p.His727fs)
|
rs267607898
|
|
NM_000249.4(MLH1):c.2181_2182del (p.Ile728fs)
|
rs267607898
|
|
NM_000249.4(MLH1):c.2194A>T (p.Lys732Ter)
|
rs267607906
|
|
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs)
|
rs267607903
|
|
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.2246T>C (p.Leu749Pro)
|
rs267607894
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2263A>G (p.Arg755Gly)
|
rs267607900
|
|
NM_000249.4(MLH1):c.2266_2269dup (p.Ter757LeuextTer?)
|
rs267607892
|
|
NM_000249.4(MLH1):c.2269dup (p.Ter757LeuextTer?)
|
rs1553666143
|
|
NM_000249.4(MLH1):c.229T>C (p.Cys77Arg)
|
rs63749859
|
|
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.232del (p.Glu78fs)
|
rs587778997
|
|
NM_000249.4(MLH1):c.244dup (p.Thr82fs)
|
rs267607729
|
|
NM_000249.4(MLH1):c.245C>T (p.Thr82Ile)
|
rs63750005
|
|
NM_000249.4(MLH1):c.256C>T (p.Gln86Ter)
|
rs63751421
|
|
NM_000249.4(MLH1):c.261del (p.Phe88fs)
|
rs267607728
|
|
NM_000249.4(MLH1):c.265G>T (p.Glu89Ter)
|
rs11541859
|
|
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.306+1G>A
|
rs267607734
|
|
NM_000249.4(MLH1):c.306+2dup
|
rs267607738
|
|
NM_000249.4(MLH1):c.306+5G>A
|
rs267607735
|
|
NM_000249.4(MLH1):c.306G>C (p.Glu102Asp)
|
rs63751665
|
|
NM_000249.4(MLH1):c.307-1420_380+624del
|
|
|
NM_000249.4(MLH1):c.307-244_454-364del
|
|
|
NM_000249.4(MLH1):c.307-797_677+1061del
|
|
|
NM_000249.4(MLH1):c.307-820_380+896del
|
|
|
NM_000249.4(MLH1):c.31del (p.Leu11fs)
|
rs63749816
|
|
NM_000249.4(MLH1):c.320T>G (p.Ile107Arg)
|
rs63750507
|
|
NM_000249.4(MLH1):c.341del (p.Thr114fs)
|
rs63750645
|
|
NM_000249.4(MLH1):c.346del (p.Thr116fs)
|
rs63750906
|
|
NM_000249.4(MLH1):c.346dup (p.Thr116fs)
|
rs267607739
|
|
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.367A>T (p.Lys123Ter)
|
rs63750542
|
|
NM_000249.4(MLH1):c.372_373del (p.Ala125fs)
|
rs587779006
|
|
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>T (p.Glu13Ter)
|
rs587779008
|
|
NM_000249.4(MLH1):c.37del (p.Glu13fs)
|
rs63750081
|
|
NM_000249.4(MLH1):c.380+2T>A
|
rs267607742
|
|
NM_000249.4(MLH1):c.380G>A (p.Arg127Lys)
|
rs63751595
|
|
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.385_386delinsGTT (p.Ser129fs)
|
rs63751710
|
|
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.392C>A (p.Ser131Ter)
|
rs63749818
|
|
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.404_407del (p.Leu135fs)
|
rs587779014
|
|
NM_000249.4(MLH1):c.420del (p.Lys140fs)
|
rs587779015
|
|
NM_000249.4(MLH1):c.428dup (p.Gly144fs)
|
rs63751045
|
|
NM_000249.4(MLH1):c.436C>T (p.Gln146Ter)
|
rs63749820
|
|
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+2T>C
|
rs267607751
|
|
NM_000249.4(MLH1):c.454-1G>A
|
rs193922370
|
|
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.464T>G (p.Leu155Arg)
|
rs63750891
|
|
NM_000249.4(MLH1):c.468_469del (p.Phe156fs)
|
rs63751101
|
|
NM_000249.4(MLH1):c.488del (p.Arg163fs)
|
rs267607754
|
|
NM_000249.4(MLH1):c.497T>A (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.503dup (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.513del (p.Glu172fs)
|
rs63749944
|
|
NM_000249.4(MLH1):c.524_525insGA (p.Ile176fs)
|
rs587779019
|
|
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.543C>T (p.Gly181=)
|
rs1481129490
|
|
NM_000249.4(MLH1):c.544A>G (p.Arg182Gly)
|
rs63750211
|
|
NM_000249.4(MLH1):c.545+3A>G
|
rs267607760
|
|
NM_000249.4(MLH1):c.545G>A (p.Arg182Lys)
|
rs587779021
|
|
NM_000249.4(MLH1):c.546-2A>C
|
rs267607759
|
|
NM_000249.4(MLH1):c.546-2A>G
|
rs267607759
|
|
NM_000249.4(MLH1):c.546-361_885-811del
|
|
|
NM_000249.4(MLH1):c.554T>G (p.Val185Gly)
|
rs63750515
|
|
NM_000249.4(MLH1):c.55A>T (p.Ile19Phe)
|
rs63750648
|
|
NM_000249.4(MLH1):c.578C>G (p.Ser193Ter)
|
rs63751480
|
|
NM_000249.4(MLH1):c.586A>T (p.Lys196Ter)
|
rs63750500
|
|
NM_000249.4(MLH1):c.588+1G>T
|
rs267607772
|
|
NM_000249.4(MLH1):c.588+5G>A
|
rs267607768
|
|
NM_000249.4(MLH1):c.588del (p.Lys196fs)
|
rs63751653
|
|
NM_000249.4(MLH1):c.589-2A>G
|
rs267607767
|
|
NM_000249.4(MLH1):c.597_598del (p.Glu199fs)
|
rs63751637
|
|
NM_000249.4(MLH1):c.5C>A (p.Ser2Ter)
|
rs587779029
|
|
NM_000249.4(MLH1):c.61del (p.Ala21fs)
|
rs63750581
|
|
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.632_633insT (p.Thr212fs)
|
rs63750908
|
|
NM_000249.4(MLH1):c.649del (p.Arg217fs)
|
rs63750380
|
|
NM_000249.4(MLH1):c.665del (p.Asn222fs)
|
rs63750385
|
|
NM_000249.4(MLH1):c.665dup (p.Asn222fs)
|
rs63750385
|
|
NM_000249.4(MLH1):c.672del (p.Ser225fs)
|
rs587779031
|
|
NM_000249.4(MLH1):c.673_676del (p.Ser225fs)
|
rs267607774
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
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.677G>A (p.Arg226Gln)
|
rs63751711
|
|
NM_000249.4(MLH1):c.677_677+1delinsAT
|
rs587779032
|
|
NM_000249.4(MLH1):c.678-1G>C
|
rs267607784
|
|
NM_000249.4(MLH1):c.678-3_678-2del
|
rs267607783
|
|
NM_000249.4(MLH1):c.678-9_693del
|
rs587779036
|
|
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)
|
rs63750823
|
|
NM_000249.4(MLH1):c.67del (p.Glu23fs)
|
rs63750822
|
|
NM_000249.4(MLH1):c.683dup (p.Ile229fs)
|
rs63751659
|
|
NM_000249.4(MLH1):c.693del (p.Ile231fs)
|
rs63750764
|
|
NM_000249.4(MLH1):c.70del (p.Val24fs)
|
rs63751396
|
|
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.731_734del (p.Gly244fs)
|
rs587779037
|
|
NM_000249.4(MLH1):c.739T>C (p.Ser247Pro)
|
rs63750948
|
|
NM_000249.4(MLH1):c.73del (p.Ile25fs)
|
rs63749839
|
|
NM_000249.4(MLH1):c.745dup (p.Ala249fs)
|
rs63750819
|
|
NM_000249.4(MLH1):c.76C>T (p.Gln26Ter)
|
rs63749827
|
|
NM_000249.4(MLH1):c.76del (p.Gln26fs)
|
rs63749828
|
|
NM_000249.4(MLH1):c.779T>G (p.Leu260Arg)
|
rs63751283
|
|
NM_000249.4(MLH1):c.782TCA[1] (p.Ile262del)
|
rs587779039
|
|
NM_000249.4(MLH1):c.78del (p.Gln26fs)
|
rs587779040
|
|
NM_000249.4(MLH1):c.790+1G>A
|
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+2dup
|
rs267607791
|
|
NM_000249.4(MLH1):c.790+5G>T
|
rs267607771
|
|
NM_000249.4(MLH1):c.791-1G>C
|
rs267607795
|
|
NM_000249.4(MLH1):c.791-4_795del
|
rs587779041
|
|
NM_000249.4(MLH1):c.791-5T>G
|
rs267607788
|
|
NM_000249.4(MLH1):c.793C>A (p.Arg265Ser)
|
rs63751194
|
|
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys)
|
rs63751194
|
|
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.811_815del (p.Ser271fs)
|
rs587779043
|
|
NM_000249.4(MLH1):c.821_824dup (p.Ile276fs)
|
rs63751439
|
|
NM_000249.4(MLH1):c.827T>G (p.Ile276Arg)
|
rs1253275403
|
|
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.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.860del (p.Asn287fs)
|
rs63750034
|
|
NM_000249.4(MLH1):c.860dup (p.Asn287fs)
|
rs63750034
|
|
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.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+4A>G
|
rs267607777
|
|
NM_000249.4(MLH1):c.884G>A (p.Ser295Asn)
|
rs63750144
|
|
NM_000249.4(MLH1):c.884_884+3del
|
rs587779050
|
|
NM_000249.4(MLH1):c.885-206_997del
|
rs1553647795
|
|
NM_000249.4(MLH1):c.885-493_1039-372del
|
|
|
NM_000249.4(MLH1):c.885-594_1038+1123del
|
|
|
NM_000249.4(MLH1):c.887T>G (p.Leu296Ter)
|
rs63750547
|
|
NM_000249.4(MLH1):c.887dup (p.Leu296fs)
|
rs63751620
|
|
NM_000249.4(MLH1):c.888del (p.Glu297fs)
|
rs267607809
|
|
NM_000249.4(MLH1):c.889G>T (p.Glu297Ter)
|
rs63750736
|
|
NM_000249.4(MLH1):c.901C>T (p.Gln301Ter)
|
rs63750489
|
|
NM_000249.4(MLH1):c.901del (p.Gln301fs)
|
rs587779052
|
|
NM_000249.4(MLH1):c.918T>A (p.Asn306Lys)
|
rs587779054
|
|
NM_000249.4(MLH1):c.921_922dup (p.His308fs)
|
rs63750962
|
|
NM_000249.4(MLH1):c.928del (p.Thr310fs)
|
rs587779055
|
|
NM_000249.4(MLH1):c.935dup (p.His312fs)
|
rs63750319
|
|
NM_000249.4(MLH1):c.939dup (p.Val314fs)
|
rs63751259
|
|
NM_000249.4(MLH1):c.954del (p.His318fs)
|
rs63749926
|
|
NM_000249.4(MLH1):c.955G>T (p.Glu319Ter)
|
rs63750796
|
|
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.994del (p.Ser332fs)
|
rs63750533
|
|
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.(?_-68)_1076+?del
|
|
|
NM_000251.2(MSH2):c.1077-?_1276+?del
|
|
|
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-?_1759+?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-?_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.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-?_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-?_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.1000A>T (p.Lys334Ter)
|
rs587779063
|
|
NM_000251.3(MSH2):c.1007del (p.Pro336fs)
|
rs587779064
|
|
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter)
|
rs63750778
|
|
NM_000251.3(MSH2):c.1013G>A (p.Gly338Glu)
|
rs587779065
|
|
NM_000251.3(MSH2):c.1017_1018del (p.Arg340fs)
|
rs63750703
|
|
NM_000251.3(MSH2):c.1018dup (p.Arg340fs)
|
rs63750703
|
|
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)
|
rs63750245
|
|
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.1037_1038dup (p.Lys347fs)
|
rs63751483
|
|
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.1059del (p.Asn354fs)
|
rs587779068
|
|
NM_000251.3(MSH2):c.1075A>T (p.Arg359Ter)
|
rs587779070
|
|
NM_000251.3(MSH2):c.1076+1G>A
|
rs267607940
|
|
NM_000251.3(MSH2):c.1077-135_1276+119dup
|
rs1553356484
|
|
NM_000251.3(MSH2):c.1077-220_1276+6245del
|
|
|
NM_000251.3(MSH2):c.1077-2A>C
|
rs267607943
|
|
NM_000251.3(MSH2):c.1077A>T (p.Arg359Ser)
|
rs63751617
|
|
NM_000251.3(MSH2):c.1097_1098insA (p.Phe366fs)
|
rs267607693
|
|
NM_000251.3(MSH2):c.1099del (p.Phe366_Val367insTer)
|
rs587779073
|
|
NM_000251.3(MSH2):c.1108del (p.Ala370fs)
|
rs63749814
|
|
NM_000251.3(MSH2):c.110del (p.Phe37fs)
|
rs63751056
|
|
NM_000251.3(MSH2):c.1119del (p.Arg373fs)
|
rs63750516
|
|
NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter)
|
rs63750558
|
|
NM_000251.3(MSH2):c.1127_1128dup (p.Gln377fs)
|
rs63751219
|
|
NM_000251.3(MSH2):c.1129C>T (p.Gln377Ter)
|
rs63750267
|
|
NM_000251.3(MSH2):c.1139del (p.Leu380fs)
|
rs63750039
|
|
NM_000251.3(MSH2):c.1144dup (p.Arg382fs)
|
rs63750496
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
NM_000251.3(MSH2):c.1183C>T (p.Gln395Ter)
|
rs63750302
|
|
NM_000251.3(MSH2):c.1189C>T (p.Gln397Ter)
|
rs63750611
|
|
NM_000251.3(MSH2):c.1192dup (p.Ala398fs)
|
rs63751169
|
|
NM_000251.3(MSH2):c.1196_1197dup (p.Asn400fs)
|
rs63749850
|
|
NM_000251.3(MSH2):c.119del (p.Gly40fs)
|
rs63750984
|
|
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.1215C>A (p.Tyr405Ter)
|
rs63751271
|
|
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.1222dup (p.Tyr408fs)
|
rs63751142
|
|
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)
|
rs63750086
|
|
NM_000251.3(MSH2):c.1243_1246del (p.Pro415fs)
|
rs63751206
|
|
NM_000251.3(MSH2):c.1249_1253del (p.Val417fs)
|
rs587779079
|
|
NM_000251.3(MSH2):c.1249del (p.Val417fs)
|
rs63751059
|
|
NM_000251.3(MSH2):c.1255C>T (p.Gln419Ter)
|
rs63750006
|
|
NM_000251.3(MSH2):c.1264G>T (p.Glu422Ter)
|
rs63751712
|
|
NM_000251.3(MSH2):c.1269dup (p.His424fs)
|
rs63751667
|
|
NM_000251.3(MSH2):c.1276+1G>A
|
rs267607950
|
|
NM_000251.3(MSH2):c.1277-2A>G
|
rs267607949
|
|
NM_000251.3(MSH2):c.1277-4076_1386+1819del
|
|
|
NM_000251.3(MSH2):c.1277-571_1386+2327del
|
|
|
NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter)
|
rs63751693
|
|
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.129T>G (p.Tyr43Ter)
|
rs63750894
|
|
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.1321dup (p.Thr441fs)
|
rs63750807
|
|
NM_000251.3(MSH2):c.1340_1341insGG (p.Phe447fs)
|
rs267607696
|
|
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.1352_1353del (p.Gln451fs)
|
rs63750957
|
|
NM_000251.3(MSH2):c.1354G>T (p.Glu452Ter)
|
rs267607954
|
|
NM_000251.3(MSH2):c.1358T>A (p.Met453Lys)
|
rs63750697
|
|
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.1387-9T>A
|
rs587779087
|
|
NM_000251.3(MSH2):c.1390del (p.Glu464fs)
|
rs587779088
|
|
NM_000251.3(MSH2):c.1399G>T (p.Glu467Ter)
|
rs587779089
|
|
NM_000251.3(MSH2):c.1408del (p.Leu469_Val470insTer)
|
rs63750384
|
|
NM_000251.3(MSH2):c.1418C>G (p.Ser473Ter)
|
rs63751403
|
|
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)
|
rs63750615
|
|
NM_000251.3(MSH2):c.1433_1434dup (p.Glu480fs)
|
rs587779091
|
|
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.1457_1460del (p.Asn486fs)
|
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.1476_1477delinsCT (p.Met492_Gln493delinsIleTer)
|
rs63750583
|
|
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter)
|
rs63750936
|
|
NM_000251.3(MSH2):c.1487T>A (p.Leu496Ter)
|
rs587779093
|
|
NM_000251.3(MSH2):c.1494dup (p.Ala499fs)
|
rs63750362
|
|
NM_000251.3(MSH2):c.1497del (p.Ala500fs)
|
rs63749963
|
|
NM_000251.3(MSH2):c.1500dup (p.Arg501fs)
|
rs587779094
|
|
NM_000251.3(MSH2):c.1511-2A>G
|
rs267607962
|
|
NM_000251.3(MSH2):c.1528C>T (p.Gln510Ter)
|
rs587779097
|
|
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.1566C>G (p.Tyr522Ter)
|
rs63750224
|
|
NM_000251.3(MSH2):c.1576del (p.Thr526fs)
|
rs63750094
|
|
NM_000251.3(MSH2):c.1578del (p.Cys527fs)
|
rs63750738
|
|
NM_000251.3(MSH2):c.1587del (p.Glu530fs)
|
rs63750845
|
|
NM_000251.3(MSH2):c.1594dup (p.Val532fs)
|
rs63750104
|
|
NM_000251.3(MSH2):c.1627del (p.Asp543fs)
|
rs63750675
|
|
NM_000251.3(MSH2):c.1638_1639dup (p.Asn547fs)
|
rs63750662
|
|
NM_000251.3(MSH2):c.163del (p.Arg55fs)
|
rs63750337
|
|
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.1661G>C (p.Ser554Thr)
|
rs63750597
|
|
NM_000251.3(MSH2):c.1662-1G>A
|
rs267607970
|
|
NM_000251.3(MSH2):c.1662-374_2458+467del
|
|
|
NM_000251.3(MSH2):c.1665del (p.Lys555fs)
|
rs63751120
|
|
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>T (p.Glu56Ter)
|
rs587779102
|
|
NM_000251.3(MSH2):c.166del (p.Glu56fs)
|
rs63750087
|
|
NM_000251.3(MSH2):c.1676del (p.Ser558_Leu559insTer)
|
rs63750633
|
|
NM_000251.3(MSH2):c.1683del (p.Glu562fs)
|
rs63750406
|
|
NM_000251.3(MSH2):c.1687dup (p.Tyr563fs)
|
rs587779103
|
|
NM_000251.3(MSH2):c.1693A>T (p.Lys565Ter)
|
rs587779104
|
|
NM_000251.3(MSH2):c.1696_1697del (p.Lys565_Asn566insTer)
|
rs63750737
|
|
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.1702dup (p.Thr568fs)
|
rs587779105
|
|
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.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.1738G>T (p.Glu580Ter)
|
rs63751411
|
|
NM_000251.3(MSH2):c.1759+2T>A
|
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.1760-361_2634+838del
|
|
|
NM_000251.3(MSH2):c.1760del (p.Gly587Alafs)
|
rs63750103
|
|
NM_000251.3(MSH2):c.1764T>G (p.Tyr588Ter)
|
rs63750844
|
|
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.1781_1782insCT (p.Leu595fs)
|
rs267607691
|
|
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.1801C>T (p.Gln601Ter)
|
rs63750047
|
|
NM_000251.3(MSH2):c.1809del (p.Asp603fs)
|
rs63751129
|
|
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)
|
rs63750951
|
|
NM_000251.3(MSH2):c.1827del (p.His610fs)
|
rs587779112
|
|
NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter)
|
rs63750493
|
|
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>T (p.Arg621Ter)
|
rs63750508
|
|
NM_000251.3(MSH2):c.1865C>T (p.Pro622Leu)
|
rs28929483
|
|
NM_000251.3(MSH2):c.186_187dup (p.Val63fs)
|
rs63750160
|
|
NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer)
|
rs63750160
|
|
NM_000251.3(MSH2):c.187dup (p.Val63fs)
|
rs63750160
|
|
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.1897dup (p.Ile633fs)
|
rs587779114
|
|
NM_000251.3(MSH2):c.1911del (p.Arg638fs)
|
rs63750893
|
|
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr)
|
rs28929484
|
|
NM_000251.3(MSH2):c.1924_1925del (p.Cys641_Val642insTer)
|
rs587779117
|
|
NM_000251.3(MSH2):c.1967_1970dup (p.Phe657fs)
|
rs587779118
|
|
NM_000251.3(MSH2):c.1968C>G (p.Tyr656Ter)
|
rs63751317
|
|
NM_000251.3(MSH2):c.1980_1981del (p.Asp660fs)
|
rs587779119
|
|
NM_000251.3(MSH2):c.1982_1985del (p.Lys661fs)
|
rs587779120
|
|
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.1996_1997del (p.Ile666fs)
|
rs63751700
|
|
NM_000251.3(MSH2):c.2005+2T>C
|
rs267607987
|
|
NM_000251.3(MSH2):c.2006G>T (p.Gly669Val)
|
rs63751640
|
|
NM_000251.3(MSH2):c.2010del (p.Asn671fs)
|
rs63751123
|
|
NM_000251.3(MSH2):c.2015del (p.Met672fs)
|
rs63751161
|
|
NM_000251.3(MSH2):c.2021_2022del (p.Gly674fs)
|
rs267608000
|
|
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.2046_2047del (p.Val684fs)
|
rs587779131
|
|
NM_000251.3(MSH2):c.204del (p.Pro69fs)
|
rs63750199
|
|
NM_000251.3(MSH2):c.2063T>G (p.Met688Arg)
|
rs63749993
|
|
NM_000251.3(MSH2):c.2071dup (p.Ile691fs)
|
rs63749878
|
|
NM_000251.3(MSH2):c.2074_2081del (p.Gly692fs)
|
rs587779135
|
|
NM_000251.3(MSH2):c.2083G>A (p.Val695Met)
|
rs772491283
|
|
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>T (p.Cys697Phe)
|
rs63750398
|
|
NM_000251.3(MSH2):c.2091T>A (p.Cys697Ter)
|
rs63750872
|
|
NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter)
|
rs587779136
|
|
NM_000251.3(MSH2):c.20del (p.Glu7fs)
|
rs267607915
|
|
NM_000251.3(MSH2):c.2113del (p.Val705fs)
|
rs63749811
|
|
NM_000251.3(MSH2):c.212-1G>A
|
rs267607914
|
|
NM_000251.3(MSH2):c.212-478T>G
|
rs587779138
|
|
NM_000251.3(MSH2):c.2135dup (p.Gly713fs)
|
rs63751453
|
|
NM_000251.3(MSH2):c.2141dup (p.Gly715fs)
|
rs63750545
|
|
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.2167dup (p.Ser723fs)
|
rs587779140
|
|
NM_000251.3(MSH2):c.2191G>T (p.Glu731Ter)
|
rs63749802
|
|
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.2228C>A (p.Ser743Ter)
|
rs63751155
|
|
NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter)
|
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.2237_2238insA (p.Ile747fs)
|
rs1553369641
|
|
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.2251G>A (p.Gly751Arg)
|
rs63751119
|
|
NM_000251.3(MSH2):c.2261del (p.Thr754fs)
|
rs267608009
|
|
NM_000251.3(MSH2):c.226C>T (p.Gln76Ter)
|
rs63750042
|
|
NM_000251.3(MSH2):c.2275G>T (p.Gly759Ter)
|
rs63749854
|
|
NM_000251.3(MSH2):c.2290del (p.Trp764fs)
|
rs63749913
|
|
NM_000251.3(MSH2):c.2291G>A (p.Trp764Ter)
|
rs587779143
|
|
NM_000251.3(MSH2):c.2292G>A (p.Trp764Ter)
|
rs63751105
|
|
NM_000251.3(MSH2):c.2294del (p.Ala765fs)
|
rs63750346
|
|
NM_000251.3(MSH2):c.2295del (p.Ile766fs)
|
rs63751143
|
|
NM_000251.3(MSH2):c.229_230del (p.Ser77fs)
|
rs63749848
|
|
NM_000251.3(MSH2):c.2305del (p.Tyr769fs)
|
rs63750896
|
|
NM_000251.3(MSH2):c.2334C>A (p.Cys778Ter)
|
rs63750618
|
|
NM_000251.3(MSH2):c.2335dup (p.Met779fs)
|
rs63750149
|
|
NM_000251.3(MSH2):c.2347del (p.His783fs)
|
rs63750233
|
|
NM_000251.3(MSH2):c.2360_2361dup (p.Thr788fs)
|
rs63750803
|
|
NM_000251.3(MSH2):c.2361dup (p.Thr788fs)
|
rs63750803
|
|
NM_000251.3(MSH2):c.2362dup (p.Thr788fs)
|
rs63750463
|
|
NM_000251.3(MSH2):c.2388del (p.Val797fs)
|
rs63749983
|
|
NM_000251.3(MSH2):c.2408_2409del (p.Thr803fs)
|
rs63750060
|
|
NM_000251.3(MSH2):c.2418dup (p.Thr807fs)
|
rs587779144
|
|
NM_000251.3(MSH2):c.2422G>T (p.Glu808Ter)
|
rs34986638
|
|
NM_000251.3(MSH2):c.2427dup (p.Thr810fs)
|
rs63751079
|
|
NM_000251.3(MSH2):c.2432T>G (p.Leu811Ter)
|
rs63751018
|
|
NM_000251.3(MSH2):c.243_273delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG (p.Lys82_Asp91delinsTer)
|
rs1573436369
|
|
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.2466_2467del (p.Cys822_Asp823delinsTer)
|
rs63751621
|
|
NM_000251.3(MSH2):c.2470C>T (p.Gln824Ter)
|
rs63750623
|
|
NM_000251.3(MSH2):c.2485_2498dup (p.Ala834fs)
|
rs587779146
|
|
NM_000251.3(MSH2):c.2485del (p.His829fs)
|
rs63751117
|
|
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs)
|
rs63751447
|
|
NM_000251.3(MSH2):c.2507del (p.Phe836fs)
|
rs63750008
|
|
NM_000251.3(MSH2):c.2521del (p.Val840_Ile841insTer)
|
rs587779147
|
|
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.2536C>T (p.Gln846Ter)
|
rs63750857
|
|
NM_000251.3(MSH2):c.2545del (p.Leu849fs)
|
rs587779149
|
|
NM_000251.3(MSH2):c.255_256del (p.Phe85fs)
|
rs267607921
|
|
NM_000251.3(MSH2):c.255dup (p.Glu86Ter)
|
rs63751158
|
|
NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter)
|
rs63749830
|
|
NM_000251.3(MSH2):c.2579C>A (p.Ser860Ter)
|
rs63750849
|
|
NM_000251.3(MSH2):c.2581C>T (p.Gln861Ter)
|
rs63750291
|
|
NM_000251.3(MSH2):c.2593_2597del (p.Ile865fs)
|
rs587779151
|
|
NM_000251.3(MSH2):c.2622T>A (p.Tyr874Ter)
|
rs587779152
|
|
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs)
|
rs63751618
|
|
NM_000251.3(MSH2):c.2634+5G>C
|
rs267608017
|
|
NM_000251.3(MSH2):c.2634G>A (p.Glu878=)
|
rs63751624
|
|
NM_000251.3(MSH2):c.2635C>T (p.Gln879Ter)
|
rs63751469
|
|
NM_000251.3(MSH2):c.263_264del (p.Phe88fs)
|
rs267607920
|
|
NM_000251.3(MSH2):c.2647del (p.Ile883fs)
|
rs63750084
|
|
NM_000251.3(MSH2):c.2647dup (p.Ile883fs)
|
rs63750084
|
|
NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter)
|
rs63750808
|
|
NM_000251.3(MSH2):c.2662del (p.Leu888fs)
|
rs63751007
|
|
NM_000251.3(MSH2):c.269_290dup (p.Tyr98fs)
|
rs1553350126
|
|
NM_000251.3(MSH2):c.278_279del (p.Leu93fs)
|
rs63749872
|
|
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.29dup (p.Leu11fs)
|
rs63750589
|
|
NM_000251.3(MSH2):c.301G>T (p.Glu101Ter)
|
rs63750318
|
|
NM_000251.3(MSH2):c.344del (p.Asn115fs)
|
rs63751195
|
|
NM_000251.3(MSH2):c.347_350del (p.Asp116fs)
|
rs63750501
|
|
NM_000251.3(MSH2):c.34dup (p.Glu12fs)
|
rs63750614
|
|
NM_000251.3(MSH2):c.352dup (p.Tyr118fs)
|
rs587779159
|
|
NM_000251.3(MSH2):c.363T>G (p.Tyr121Ter)
|
rs63750458
|
|
NM_000251.3(MSH2):c.367-371_646-513del
|
|
|
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.380_381del (p.Asn127fs)
|
rs63751227
|
|
NM_000251.3(MSH2):c.387_388del (p.Gln130fs)
|
rs63750924
|
|
NM_000251.3(MSH2):c.388_389del (p.Gln130fs)
|
rs63750704
|
|
NM_000251.3(MSH2):c.399del (p.Asp133fs)
|
rs63751290
|
|
NM_000251.3(MSH2):c.408del (p.Phe136fs)
|
rs63750408
|
|
NM_000251.3(MSH2):c.416del (p.Asn139fs)
|
rs63750401
|
|
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)
|
rs63750910
|
|
NM_000251.3(MSH2):c.454del (p.Met152fs)
|
rs63751449
|
|
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.482T>A (p.Val161Asp)
|
rs63750126
|
|
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)
|
rs63750624
|
|
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.506_509del (p.Ile169fs)
|
rs63751013
|
|
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.518T>G (p.Leu173Arg)
|
rs63750070
|
|
NM_000251.3(MSH2):c.518del (p.Leu173fs)
|
rs63750069
|
|
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.530_531del (p.Glu177fs)
|
rs63750551
|
|
NM_000251.3(MSH2):c.547C>T (p.Gln183Ter)
|
rs63750037
|
|
NM_000251.3(MSH2):c.551del (p.Phe184fs)
|
rs267607928
|
|
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.568CTC[1] (p.Leu191del)
|
rs587779165
|
|
NM_000251.3(MSH2):c.577C>T (p.Gln193Ter)
|
rs63751326
|
|
NM_000251.3(MSH2):c.587del (p.Pro196fs)
|
rs63750682
|
|
NM_000251.3(MSH2):c.592dup (p.Glu198fs)
|
rs63750786
|
|
NM_000251.3(MSH2):c.595T>C (p.Cys199Arg)
|
rs63751110
|
|
NM_000251.3(MSH2):c.599T>A (p.Val200Asp)
|
rs587779167
|
|
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.616dup (p.Thr206fs)
|
rs63750995
|
|
NM_000251.3(MSH2):c.638_639del (p.Leu213fs)
|
rs63751622
|
|
NM_000251.3(MSH2):c.643C>T (p.Gln215Ter)
|
rs63751274
|
|
NM_000251.3(MSH2):c.643_646del (p.Arg214_Gln215insTer)
|
rs63751695
|
|
NM_000251.3(MSH2):c.645+1G>A
|
rs267607689
|
|
NM_000251.3(MSH2):c.646-3T>G
|
rs267607930
|
|
NM_000251.3(MSH2):c.650_654del (p.Ile217fs)
|
rs63751602
|
|
NM_000251.3(MSH2):c.652C>T (p.Gln218Ter)
|
rs587779170
|
|
NM_000251.3(MSH2):c.675_679delinsTAAT (p.Glu226fs)
|
rs587779172
|
|
NM_000251.3(MSH2):c.685A>T (p.Lys229Ter)
|
rs587779173
|
|
NM_000251.3(MSH2):c.687del (p.Ala230fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.687dup (p.Ala230fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.691del (p.Asp231fs)
|
rs587779174
|
|
NM_000251.3(MSH2):c.696_697del (p.Ser233fs)
|
rs63750426
|
|
NM_000251.3(MSH2):c.704_705del (p.Lys235fs)
|
rs281864944
|
|
NM_000251.3(MSH2):c.705del (p.Asp236fs)
|
rs281864944
|
|
NM_000251.3(MSH2):c.711_714del (p.Tyr238fs)
|
rs63751288
|
|
NM_000251.3(MSH2):c.715C>T (p.Gln239Ter)
|
rs63750488
|
|
NM_000251.3(MSH2):c.717_721delinsTTA (p.Gln239fs)
|
rs63750690
|
|
NM_000251.3(MSH2):c.71dup (p.Met26fs)
|
rs587779175
|
|
NM_000251.3(MSH2):c.725dup (p.Asn242fs)
|
rs587779176
|
|
NM_000251.3(MSH2):c.735dup (p.Lys246fs)
|
rs63750107
|
|
NM_000251.3(MSH2):c.736A>T (p.Lys246Ter)
|
rs63750881
|
|
NM_000251.3(MSH2):c.73_74insC (p.Gly25fs)
|
rs587779177
|
|
NM_000251.3(MSH2):c.746del (p.Lys249fs)
|
rs63749832
|
|
NM_000251.3(MSH2):c.754C>T (p.Gln252Ter)
|
rs63750347
|
|
NM_000251.3(MSH2):c.759_762del (p.Met253fs)
|
rs267607931
|
|
NM_000251.3(MSH2):c.759del (p.Met253fs)
|
rs63751160
|
|
NM_000251.3(MSH2):c.761del (p.Asn254fs)
|
rs587779179
|
|
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.788_789del (p.Asn263fs)
|
rs63751614
|
|
NM_000251.3(MSH2):c.792+10_943-448del
|
|
|
NM_000251.3(MSH2):c.792+1G>A
|
rs267607934
|
|
NM_000251.3(MSH2):c.793-6_942+450del
|
rs1553352366
|
|
NM_000251.3(MSH2):c.795del (p.Ala266fs)
|
rs63749902
|
|
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.82G>T (p.Glu28Ter)
|
rs63751246
|
|
NM_000251.3(MSH2):c.82del (p.Glu28fs)
|
rs587779188
|
|
NM_000251.3(MSH2):c.836del (p.Leu279fs)
|
rs63751159
|
|
NM_000251.3(MSH2):c.839dup (p.Leu280fs)
|
rs63750091
|
|
NM_000251.3(MSH2):c.842C>A (p.Ser281Ter)
|
rs63749991
|
|
NM_000251.3(MSH2):c.854del (p.Asn285fs)
|
rs63750701
|
|
NM_000251.3(MSH2):c.859G>T (p.Gly287Ter)
|
rs63750276
|
|
NM_000251.3(MSH2):c.862C>T (p.Gln288Ter)
|
rs63750097
|
|
NM_000251.3(MSH2):c.863del (p.Gln288fs)
|
rs587779189
|
|
NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)
|
rs587779190
|
|
NM_000251.3(MSH2):c.873_876del (p.Thr292fs)
|
rs587779191
|
|
NM_000251.3(MSH2):c.881_882del (p.Thr293_Phe294insTer)
|
rs63751115
|
|
NM_000251.3(MSH2):c.888del (p.Phe296fs)
|
rs587779192
|
|
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)
|
rs63750934
|
|
NM_000251.3(MSH2):c.898_899dup (p.Met300fs)
|
rs63750885
|
|
NM_000251.3(MSH2):c.901A>T (p.Lys301Ter)
|
rs63749915
|
|
NM_000251.3(MSH2):c.905T>A (p.Leu302Ter)
|
rs63749914
|
|
NM_000251.3(MSH2):c.915_922dup (p.Arg308fs)
|
rs63750046
|
|
NM_000251.3(MSH2):c.929T>C (p.Leu310Pro)
|
rs63750640
|
|
NM_000251.3(MSH2):c.942G>A (p.Gln314=)
|
rs587779197
|
|
NM_000251.3(MSH2):c.94_103del (p.Thr32fs)
|
rs63750728
|
|
NM_000251.3(MSH2):c.958dup (p.Thr320fs)
|
rs63749852
|
|
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.989T>C (p.Leu330Pro)
|
rs63750630
|
|
NM_000251.3(MSH2):c.998G>A (p.Cys333Tyr)
|
rs63750828
|
|
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.1145-1350_*20545del
|
|
|
NM_000535.5(PMS2):c.354-?_(*160_?)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:c.(1144+1_1145-1)_(2174+1_2715-1)dup
|
|
|
NM_000535.6(PMS2):c.1145-?_2174+?del
|
|
|
NM_000535.6(PMS2):c.1169_1170ins20 (p.?)
|
|
|
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.804-?_903+?del
|
|
|
NM_000535.6(PMS2):c.904-?_988+?del
|
|
|
NM_000535.7(PMS2):c.1021del (p.Arg341fs)
|
rs63750049
|
|
NM_000535.7(PMS2):c.1076dup (p.Leu359fs)
|
rs267608156
|
|
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)
|
rs587779326
|
|
NM_000535.7(PMS2):c.1221del (p.Thr408fs)
|
rs587776715
|
|
NM_000535.7(PMS2):c.1306dup (p.Ser436fs)
|
rs63750106
|
|
NM_000535.7(PMS2):c.164-518_803+252delinsCG
|
|
|
NM_000535.7(PMS2):c.1730dup (p.Arg578fs)
|
rs587779330
|
|
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)
|
rs267608169
|
|
NM_000535.7(PMS2):c.1768del (p.Ile590fs)
|
rs63750477
|
|
NM_000535.7(PMS2):c.182del (p.Tyr61fs)
|
rs63750793
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)
|
rs63750490
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.219_220dup (p.Gly74fs)
|
rs587779336
|
|
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs)
|
rs267608173
|
|
NM_000535.7(PMS2):c.2276-113_2445+1596del
|
|
|
NM_000535.7(PMS2):c.2276-91_2445+790del
|
|
|
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)
|
rs267608160
|
|
NM_000535.7(PMS2):c.24-12_107delinsAAAT
|
rs1554306445
|
|
NM_000535.7(PMS2):c.538-478_705+456del
|
|
|
NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer)
|
rs63751029
|
|
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.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.780del (p.Asp261fs)
|
rs587779344
|
|
NM_000535.7(PMS2):c.802dup (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.862_863del (p.Gln288fs)
|
rs63750246
|
|
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)
|
rs143277125
|
|
NM_000535.7(PMS2):c.989-296_1144+706del
|
|
|
NM_000535.7:(PMS2):c.(1144+1_1145-1)_(2445+1_2446-1)del (p.Asn383Aspfs*7)
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NM_001354621.2(MLH1):c.-139-2804_-139-2801del
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rs267607799
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