ClinVar Miner

List of variants reported as pathogenic for Lynch syndrome

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 1558
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HGVS dbSNP
GRCh37/hg19 3p22.2(chr3:37089011-37116538)
MLH1, 1-BP DEL, 1784T
MLH1, 11.6-KB DEL
MLH1, 2-BP DEL, 593AG
MLH1, 3-BP DEL, 213AGA
MLH1, 3.5-KB DEL
MLH1, 370-BP DEL
MLH1, EPIGENETICALLY SILENCED
MLH1, EX16DEL
MLH1, EX18DEL
MLH1, HYPERMETHYLATION
MLH1:c.(?_-198)_207+?del
MLH1:c.(?_-198)_306+?del
MSH2, 32-KB DEL, EX1-6
MSH2, DEL 50 CODONS
MSH6, 1-BP DEL, 594T
MSH6, 1-BP DEL, LEU222TER
MSH6, 13-KB DEL
MSH6, TRP1024TER
NC_000002.11:g.(?_47596287)_(47614167_?)del
NC_000002.11:g.(?_47604153)_(47604216_?)del
NC_000002.11:g.(?_47606092)_(47614167_?)del
NC_000002.11:g.(?_47630206)_(47630541_?)del
NC_000002.11:g.(?_47630206)_(47635694_?)del
NC_000002.11:g.(?_47630206)_(47710367_?)del
NC_000002.11:g.(?_47639553)_(47710367_?)del
NC_000002.11:g.(?_47709918)_(47710088_?)del
NC_000002.11:g.(?_48018066)_(48018262_?)del
NC_000002.11:g.(?_48018066)_(48028294_?)del
NC_000002.11:g.(?_48030559)_(48032166_?)del
NC_000002.11:g.38121110_47669522inv
NC_000003.11:g.(?_37038110)_(37042544_?)del
NC_000007.13:g.(?_6031604)_(6038906_?)del
NC_000007.13:g.(?_6031604)_(6042267_?)del
NC_000007.13:g.(?_6031604)_(6045662_?)del
NC_000007.13:g.(?_6031604)_(6048737_?)del
NC_000007.13:g.(?_6036957)_(6043689_?)del
NC_000007.13:g.(?_6043321)_(6043689_?)del
NM_000179.2 (MSH6):c.3984_3987dupGTCA (p.Leu1330Valfs) rs267608121
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.-11863_457+1921del
NM_000179.2(MSH6):c.-3097_457+2010del
NM_000179.2(MSH6):c.1039_1040insC (p.Glu347fs) rs1553412441
NM_000179.2(MSH6):c.1085del (p.Pro362fs) rs267608056
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.1100A>G (p.His367Arg) rs1553412495
NM_000179.2(MSH6):c.1101del (p.His367fs) rs587779203
NM_000179.2(MSH6):c.1109T>C (p.Leu370Ser) rs587779204
NM_000179.2(MSH6):c.1130_1134AGAGA[1] (p.Arg378_Arg379insTer) rs267608077
NM_000179.2(MSH6):c.1139_1143del (p.Asp380fs) rs587779206
NM_000179.2(MSH6):c.1190_1191del (p.Tyr397fs) rs63750439
NM_000179.2(MSH6):c.1193T>A (p.Val398Glu) rs587779208
NM_000179.2(MSH6):c.1276del (p.Cys426fs) rs587779209
NM_000179.2(MSH6):c.1295_1296insAA (p.Phe432fs) rs1060502946
NM_000179.2(MSH6):c.1299T>A (p.Tyr433Ter) rs267608055
NM_000179.2(MSH6):c.1299T>G (p.Tyr433Ter) rs267608055
NM_000179.2(MSH6):c.1333_1334del (p.Val444_Ser445insTer) rs1060502940
NM_000179.2(MSH6):c.1346T>C (p.Leu449Pro) rs63750741
NM_000179.2(MSH6):c.1350_1351del (p.Phe451fs) rs878853702
NM_000179.2(MSH6):c.1352del (p.Phe451fs) rs869312769
NM_000179.2(MSH6):c.1367G>A (p.Trp456Ter) rs587780538
NM_000179.2(MSH6):c.1407T>A (p.Tyr469Ter) rs587781408
NM_000179.2(MSH6):c.1421_1422dup (p.Gln475fs) rs63750854
NM_000179.2(MSH6):c.1439T>A (p.Val480Glu) rs1244531716
NM_000179.2(MSH6):c.1444C>T (p.Arg482Ter) rs63750909
NM_000179.2(MSH6):c.1477G>T (p.Glu493Ter) rs267608046
NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.2(MSH6):c.1519dup (p.Arg507fs) rs876658881
NM_000179.2(MSH6):c.1570_1571insC (p.Tyr524fs) rs878853709
NM_000179.2(MSH6):c.1571dup (p.Tyr524Ter) rs1553412966
NM_000179.2(MSH6):c.1572C>A (p.Tyr524Ter) rs587779215
NM_000179.2(MSH6):c.1572C>G (p.Tyr524Ter) rs587779215
NM_000179.2(MSH6):c.1573_3439-429dupinsTAT
NM_000179.2(MSH6):c.1580del (p.Leu527fs) rs63751090
NM_000179.2(MSH6):c.1590del (p.Ser532fs) rs587779216
NM_000179.2(MSH6):c.1596dup (p.Glu533Ter) rs587779217
NM_000179.2(MSH6):c.1602del (p.Tyr535fs) rs63751234
NM_000179.2(MSH6):c.1614_1615delinsAG (p.Tyr538_Leu539delinsTer) rs267608049
NM_000179.2(MSH6):c.1614_1615delinsG (p.Tyr538_Leu539delinsTer) rs587779218
NM_000179.2(MSH6):c.1615_1617CTT[1] (p.Leu540del) rs1064793600
NM_000179.2(MSH6):c.1628_1629del (p.Lys543fs) rs587779219
NM_000179.2(MSH6):c.1632_1635del (p.Lys545fs) rs267608064
NM_000179.2(MSH6):c.1634_1637del (p.Lys545fs) rs63749874
NM_000179.2(MSH6):c.1635_1636AG[1] (p.Glu546fs) rs267608076
NM_000179.2(MSH6):c.1705_1706del (p.Phe569fs) rs587783056
NM_000179.2(MSH6):c.1746dup (p.Arg583Ter) rs863224474
NM_000179.2(MSH6):c.1784del (p.Leu595fs) rs267608050
NM_000179.2(MSH6):c.1794dup (p.Gly599fs) rs587780670
NM_000179.2(MSH6):c.1805C>A (p.Ser602Ter) rs730881816
NM_000179.2(MSH6):c.1805C>G (p.Ser602Ter) rs730881816
NM_000179.2(MSH6):c.1806_1809del (p.Glu604fs) rs63750735
NM_000179.2(MSH6):c.1819dup (p.Thr607fs) rs587779221
NM_000179.2(MSH6):c.1835C>A (p.Ser612Ter) rs63750564
NM_000179.2(MSH6):c.1842del (p.Cys615fs) rs730881825
NM_000179.2(MSH6):c.1869del (p.Gly624fs) rs71539659
NM_000179.2(MSH6):c.1871del (p.Gly624fs) rs777159874
NM_000179.2(MSH6):c.1901_1902del (p.Thr633_Leu634insTer) rs267608082
NM_000179.2(MSH6):c.1957_1960dup (p.Met654fs) rs63751167
NM_000179.2(MSH6):c.1993G>T (p.Glu665Ter) rs1333555322
NM_000179.2(MSH6):c.2041_2042CT[2] (p.Ser682fs) rs267608057
NM_000179.2(MSH6):c.2048_2049CT[3] (p.Leu684_Gly685insTer) rs587779226
NM_000179.2(MSH6):c.2056_2060delinsCTTCTACCTCAAAAA (p.Gly686fs) rs878853711
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2060_2061GT[1] (p.Val688fs) rs63750075
NM_000179.2(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.2(MSH6):c.2079dup (p.Cys694fs) rs267608083
NM_000179.2(MSH6):c.2089del (p.Asp697fs) rs863224475
NM_000179.2(MSH6):c.2105C>G (p.Ser702Ter) rs63751419
NM_000179.2(MSH6):c.2127T>A (p.Tyr709Ter) rs587779232
NM_000179.2(MSH6):c.2137del (p.Asp713fs) rs864622257
NM_000179.2(MSH6):c.2145_2146CA[1] (p.Thr716fs) rs786204048
NM_000179.2(MSH6):c.2150_2153del (p.Val717fs) rs267608058
NM_000179.2(MSH6):c.2191C>T (p.Gln731Ter) rs63751442
NM_000179.2(MSH6):c.2194C>T (p.Arg732Ter) rs63751127
NM_000179.2(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.2(MSH6):c.2294dup (p.Cys765fs) rs1553413673
NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.2(MSH6):c.2308_2312delinsT (p.Gly770fs) rs864622585
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.2316_2317dup (p.Leu773fs) rs1553413693
NM_000179.2(MSH6):c.2330G>A (p.Trp777Ter) rs587779234
NM_000179.2(MSH6):c.2342C>T (p.Pro781Leu) rs1553413710
NM_000179.2(MSH6):c.2348_2349del (p.Leu782_Cys783insTer) rs267608065
NM_000179.2(MSH6):c.2379_2380del (p.Ala794fs) rs587779237
NM_000179.2(MSH6):c.2419G>T (p.Glu807Ter) rs587779923
NM_000179.2(MSH6):c.2503C>T (p.Gln835Ter) rs63751321
NM_000179.2(MSH6):c.2535dup (p.Glu846Ter) rs587779241
NM_000179.2(MSH6):c.2569_2572del (p.Asp857fs) rs587779243
NM_000179.2(MSH6):c.261-3237_3735del
NM_000179.2(MSH6):c.2611_2614dup (p.Ile872fs) rs63750357
NM_000179.2(MSH6):c.2645_2653del (p.Phe882_Lys885delinsTer) rs876660630
NM_000179.2(MSH6):c.2672_2674delinsC (p.Ile891fs) rs587779244
NM_000179.2(MSH6):c.2680C>T (p.Gln894Ter) rs878853718
NM_000179.2(MSH6):c.2690dup (p.Asn897fs) rs1553414010
NM_000179.2(MSH6):c.2714T>A (p.Leu905Ter) rs587779245
NM_000179.2(MSH6):c.2719_2720del (p.Val907fs) rs63750904
NM_000179.2(MSH6):c.2731C>T (p.Arg911Ter) rs63751017
NM_000179.2(MSH6):c.2739_2740dup (p.Thr914fs) rs1553414092
NM_000179.2(MSH6):c.2764C>T (p.Arg922Ter) rs587779246
NM_000179.2(MSH6):c.2765del (p.Arg922fs) rs587779247
NM_000179.2(MSH6):c.2768dup (p.Thr924fs) rs267608063
NM_000179.2(MSH6):c.2805dup (p.Asp936Ter) rs876659189
NM_000179.2(MSH6):c.2815C>T (p.Gln939Ter) rs63750140
NM_000179.2(MSH6):c.2832_2833del (p.Ile944fs) rs730881827
NM_000179.2(MSH6):c.2846_2847AG[1] (p.Ser950fs) rs869312770
NM_000179.2(MSH6):c.2851_2858del (p.Leu951fs) rs63750940
NM_000179.2(MSH6):c.2873_2874del (p.Gln958fs) rs1553414239
NM_000179.2(MSH6):c.2910G>A (p.Trp970Ter) rs765411990
NM_000179.2(MSH6):c.2931C>G (p.Tyr977Ter) rs63750111
NM_000179.2(MSH6):c.2945del (p.Pro982fs) rs587779250
NM_000179.2(MSH6):c.2976del (p.Glu993fs) rs587779251
NM_000179.2(MSH6):c.2983G>T (p.Glu995Ter) rs63750258
NM_000179.2(MSH6):c.2984del (p.Glu995fs) rs63749938
NM_000179.2(MSH6):c.3013C>T (p.Arg1005Ter) rs63750563
NM_000179.2(MSH6):c.3020G>A (p.Trp1007Ter) rs587779252
NM_000179.2(MSH6):c.3037_3041del (p.Lys1013fs) rs587782712
NM_000179.2(MSH6):c.3051_3052TC[1] (p.Leu1018fs) rs63751407
NM_000179.2(MSH6):c.3067G>T (p.Glu1023Ter) rs267608059
NM_000179.2(MSH6):c.3103C>T (p.Arg1035Ter) rs63749999
NM_000179.2(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer) rs267608042
NM_000179.2(MSH6):c.3142C>T (p.Gln1048Ter) rs200492211
NM_000179.2(MSH6):c.3149del (p.Ala1050fs) rs1060502882
NM_000179.2(MSH6):c.3153_3154AG[1] (p.Glu1052fs) rs63750833
NM_000179.2(MSH6):c.3173-1_3173del rs587779256
NM_000179.2(MSH6):c.3173-433_3556+228del
NM_000179.2(MSH6):c.3182del (p.Leu1061fs) rs63750196
NM_000179.2(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.2(MSH6):c.3195_3198del (p.Asn1065fs) rs267608085
NM_000179.2(MSH6):c.3196_3197TA[3] (p.Ser1067fs) rs63749821
NM_000179.2(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843
NM_000179.2(MSH6):c.3220_3221del (p.Met1074fs) rs1553331290
NM_000179.2(MSH6):c.3221del (p.Met1074fs) rs267608090
NM_000179.2(MSH6):c.3238_3239del (p.Leu1080fs) rs863225406
NM_000179.2(MSH6):c.3259_3260insT (p.Pro1087fs) rs587779258
NM_000179.2(MSH6):c.3261del (p.Phe1088fs) rs267608078
NM_000179.2(MSH6):c.3261dup (p.Phe1088fs) rs267608078
NM_000179.2(MSH6):c.3263dup (p.Glu1090fs) rs267608091
NM_000179.2(MSH6):c.3268_3274del (p.Glu1090fs) rs587779259
NM_000179.2(MSH6):c.3273dup (p.Lys1092Ter) rs267608095
NM_000179.2(MSH6):c.3311_3312del (p.Phe1104fs) rs267608092
NM_000179.2(MSH6):c.3312del (p.Phe1104fs) rs267608092
NM_000179.2(MSH6):c.3312dup (p.Gly1105fs) rs267608092
NM_000179.2(MSH6):c.3320del (p.Asp1107fs) rs63750377
NM_000179.2(MSH6):c.3324dup (p.Ile1109fs) rs267608088
NM_000179.2(MSH6):c.3332_3335dup (p.Asp1112delinsGluTer) rs587782562
NM_000179.2(MSH6):c.3341_3342insC (p.Ile1115fs) rs587779260
NM_000179.2(MSH6):c.3355G>T (p.Glu1119Ter) rs267608084
NM_000179.2(MSH6):c.3367G>T (p.Glu1123Ter) rs267608086
NM_000179.2(MSH6):c.3379_3438+5del rs1553331676
NM_000179.2(MSH6):c.3435del (p.Arg1145fs) rs863224476
NM_000179.2(MSH6):c.3436C>T (p.Gln1146Ter) rs63750356
NM_000179.2(MSH6):c.3438+797_3438+798insTATins1839_3438+797
NM_000179.2(MSH6):c.3439-1G>T rs587779263
NM_000179.2(MSH6):c.3439-2A>G rs267608098
NM_000179.2(MSH6):c.3439-?_3556+?del
NM_000179.2(MSH6):c.3476dup (p.Tyr1159Ter) rs587782111
NM_000179.2(MSH6):c.3477C>G (p.Tyr1159Ter) rs398123231
NM_000179.2(MSH6):c.3487G>T (p.Glu1163Ter) rs587779267
NM_000179.2(MSH6):c.3511_3512del (p.Ile1170_Asp1171insTer) rs63751410
NM_000179.2(MSH6):c.3513_3514del (p.Asp1171fs) rs63750194
NM_000179.2(MSH6):c.3514dup (p.Arg1172fs) rs63751327
NM_000179.2(MSH6):c.3516_3519del (p.Arg1172fs) rs267608099
NM_000179.2(MSH6):c.3519_3520insA (p.Phe1174fs) rs63750296
NM_000179.2(MSH6):c.3519_3522dup (p.Thr1175fs) rs267608101
NM_000179.2(MSH6):c.3526A>T (p.Arg1176Ter) rs786203968
NM_000179.2(MSH6):c.3556+1G>T
NM_000179.2(MSH6):c.3557-?_(*93_?)del
NM_000179.2(MSH6):c.3573dup (p.Val1192fs) rs1057517764
NM_000179.2(MSH6):c.3605_3608TGCA[1] (p.His1203fs) rs587779274
NM_000179.2(MSH6):c.3632T>C (p.Leu1211Pro) rs864622041
NM_000179.2(MSH6):c.3635dup (p.Asp1213fs) rs63750731
NM_000179.2(MSH6):c.3647-1G>A rs587779279
NM_000179.2(MSH6):c.3647-2A>C rs267608111
NM_000179.2(MSH6):c.3678_3706dup (p.Ala1236delinsGluTer) rs1553332996
NM_000179.2(MSH6):c.3690del (p.Val1231fs) rs730881829
NM_000179.2(MSH6):c.3699_3702del (p.Lys1233fs) rs193922343
NM_000179.2(MSH6):c.3717_3721dup (p.Cys1241Ter) rs878853736
NM_000179.2(MSH6):c.3725_3737del (p.Arg1242fs) rs587779287
NM_000179.2(MSH6):c.3729_3732dup (p.Phe1245fs) rs587779288
NM_000179.2(MSH6):c.3743_3744insT (p.Tyr1249fs) rs786201084
NM_000179.2(MSH6):c.3753_3756dup (p.Val1253fs) rs876661222
NM_000179.2(MSH6):c.3757_3758insA (p.Val1253fs) rs587779289
NM_000179.2(MSH6):c.3768T>G (p.Tyr1256Ter) rs63751058
NM_000179.2(MSH6):c.3772C>T (p.Gln1258Ter) rs63750554
NM_000179.2(MSH6):c.3797_3798AT[1] (p.Met1267fs) rs267608114
NM_000179.2(MSH6):c.3798_3801+26del rs587779291
NM_000179.2(MSH6):c.3804dup (p.Cys1269fs) rs267608118
NM_000179.2(MSH6):c.3817_3820AATG[3] (p.Cys1275Ter) rs63750262
NM_000179.2(MSH6):c.3838C>T (p.Gln1280Ter) rs63750139
NM_000179.2(MSH6):c.3840_3846del (p.Glu1281fs) rs63751319
NM_000179.2(MSH6):c.3847_3850dup (p.Thr1284fs) rs267608128
NM_000179.2(MSH6):c.3850_3857dup (p.Tyr1287fs) rs1553333432
NM_000179.2(MSH6):c.3850dup (p.Thr1284fs) rs1553333421
NM_000179.2(MSH6):c.3864dup (p.Phe1289fs) rs878853739
NM_000179.2(MSH6):c.3887_3893del (p.Lys1296fs) rs267608130
NM_000179.2(MSH6):c.3917_3938dup (p.Gln1314_Lys1315insTer) rs1553333584
NM_000179.2(MSH6):c.3918dup (p.Asn1307Ter) rs1553333594
NM_000179.2(MSH6):c.3920_3927dup (p.Glu1310fs) rs587779295
NM_000179.2(MSH6):c.3922_3940dup (p.Gln1314fs) rs1553333598
NM_000179.2(MSH6):c.3932_3935dup (p.Ile1313fs) rs267608127
NM_000179.2(MSH6):c.3934_3937dup (p.Ile1313fs) rs760190301
NM_000179.2(MSH6):c.3938_3941dup (p.Gln1314fs) rs267608126
NM_000179.2(MSH6):c.3939_3940dup (p.Gln1314fs) rs730881830
NM_000179.2(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer) rs63750767
NM_000179.2(MSH6):c.3940C>T (p.Gln1314Ter) rs1416452389
NM_000179.2(MSH6):c.3953_3954ins32 (p.?)
NM_000179.2(MSH6):c.3957dup (p.Ala1320fs) rs587779297
NM_000179.2(MSH6):c.3959_3962del (p.Ala1320fs) rs267608120
NM_000179.2(MSH6):c.3964G>T (p.Glu1322Ter) rs1553333707
NM_000179.2(MSH6):c.3969_3979del (p.Phe1323fs) rs587779299
NM_000179.2(MSH6):c.3973A>T (p.Lys1325Ter) rs1060502937
NM_000179.2(MSH6):c.3980_3983dup (p.Leu1330fs) rs1553333738
NM_000179.2(MSH6):c.3984_3985insATCA (p.Ser1329fs) rs267608124
NM_000179.2(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.2(MSH6):c.3996_4000dup (p.Arg1334fs) rs587779301
NM_000179.2(MSH6):c.4001+2T>C rs267608131
NM_000179.2(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.2(MSH6):c.4002-31_4002-8inv
NM_000179.2(MSH6):c.426G>A (p.Trp142Ter) rs63750342
NM_000179.2(MSH6):c.457+2T>A rs267608036
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_000179.2(MSH6):c.467C>G (p.Ser156Ter) rs63749873
NM_000179.2(MSH6):c.520_521AG[1] (p.Arg174fs) rs267608037
NM_000179.2(MSH6):c.597del (p.Ser200fs)
NM_000179.2(MSH6):c.599C>A (p.Ser200Ter) rs63751077
NM_000179.2(MSH6):c.642C>A (p.Tyr214Ter) rs1800937
NM_000179.2(MSH6):c.642C>G (p.Tyr214Ter) rs1800937
NM_000179.2(MSH6):c.651dup (p.Lys218Ter) rs63750955
NM_000179.2(MSH6):c.652A>T (p.Lys218Ter) rs587779315
NM_000179.2(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000179.2(MSH6):c.706C>T (p.Gln236Ter) rs63750996
NM_000179.2(MSH6):c.710del (p.Gly237fs) rs587779319
NM_000179.2(MSH6):c.718C>T (p.Arg240Ter) rs63750019
NM_000179.2(MSH6):c.730C>T (p.Gln244Ter) rs267608066
NM_000179.2(MSH6):c.738_739insT (p.Lys247Ter) rs587779320
NM_000179.2(MSH6):c.741del (p.Lys247fs) rs267608041
NM_000179.2(MSH6):c.742C>T (p.Arg248Ter) rs63749980
NM_000179.2(MSH6):c.755C>G (p.Ser252Ter) rs267608048
NM_000179.2(MSH6):c.762_763del (p.Glu255_Ser256insTer) rs267608072
NM_000179.2(MSH6):c.814G>T (p.Glu272Ter) rs63750552
NM_000179.2(MSH6):c.845dup (p.Asp284fs) rs1553412283
NM_000179.2(MSH6):c.892C>T (p.Arg298Ter) rs146816935
NM_000179.2(MSH6):c.900dup (p.Lys301fs) rs863225421
NM_000179.2(MSH6):c.989C>A (p.Ser330Ter) rs786202848
NM_000179.2(MSH6):c.999del (p.Lys334fs) rs1060502932
NM_000179.2:c.1-?_260+?del
NM_000179.2:c.1-?_3646+?del
NM_000179.2:c.1-?_4083+?del
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.-381_207+606del
NM_000249.3(MLH1):c.-42C>T rs41285097
NM_000249.3(MLH1):c.-54519_1731+2263del
NM_000249.3(MLH1):c.-73960_*46597del
NM_000249.3(MLH1):c.1007del (p.Gly336fs) rs63750434
NM_000249.3(MLH1):c.100G>A (p.Glu34Lys) rs1559500884
NM_000249.3(MLH1):c.100_101GA[1] (p.Glu34fs) rs63749813
NM_000249.3(MLH1):c.1011del (p.Asn338fs) rs63750677
NM_000249.3(MLH1):c.1011dup (p.Asn338fs) rs63750677
NM_000249.3(MLH1):c.1017del (p.Ser340fs) rs63750339
NM_000249.3(MLH1):c.1023del (p.Met342fs) rs63749837
NM_000249.3(MLH1):c.1024_1038+1del rs1553648201
NM_000249.3(MLH1):c.1026dup (p.Tyr343fs) rs587778881
NM_000249.3(MLH1):c.1037A>G (p.Gln346Arg) rs63751609
NM_000249.3(MLH1):c.1038G>A (p.Gln346=) rs63751715
NM_000249.3(MLH1):c.1038G>C (p.Gln346His) rs63751715
NM_000249.3(MLH1):c.1038G>T (p.Gln346His) rs63751715
NM_000249.3(MLH1):c.1039-1G>A rs267607819
NM_000249.3(MLH1):c.1039-2329_1409+827del
NM_000249.3(MLH1):c.1039-2A>G rs267607815
NM_000249.3(MLH1):c.1039-675_1409+26del
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.1043del (p.Leu348fs) rs1060500703
NM_000249.3(MLH1):c.1046dup (p.Pro350fs) rs267607822
NM_000249.3(MLH1):c.1047dup (p.Pro350fs) rs1060500707
NM_000249.3(MLH1):c.104T>G (p.Met35Arg) rs63749906
NM_000249.3(MLH1):c.104_105delinsAC (p.Met35Asn) rs121912965
NM_000249.3(MLH1):c.104_105insAA (p.Met35fs) rs587778882
NM_000249.3(MLH1):c.1050del (p.Gly351fs) rs587778883
NM_000249.3(MLH1):c.1061del (p.Gly354fs) rs63750472
NM_000249.3(MLH1):c.1071_1078del (p.Gly357_Glu358insTer) rs587778884
NM_000249.3(MLH1):c.1072_1078del (p.Glu358fs) rs1060500692
NM_000249.3(MLH1):c.1072del (p.Glu358fs) rs587778885
NM_000249.3(MLH1):c.109G>A (p.Glu37Lys) rs63751012
NM_000249.3(MLH1):c.109G>T (p.Glu37Ter) rs63751012
NM_000249.3(MLH1):c.1101del (p.Ser368fs) rs63750715
NM_000249.3(MLH1):c.1128_1129dup (p.Lys377fs) rs63750305
NM_000249.3(MLH1):c.112A>C (p.Asn38His) rs63750580
NM_000249.3(MLH1):c.1132_1134delinsA (p.Val378fs) rs587778887
NM_000249.3(MLH1):c.113A>C (p.Asn38Thr) rs587778888
NM_000249.3(MLH1):c.113A>G (p.Asn38Ser) rs587778888
NM_000249.3(MLH1):c.1145dup (p.Met383fs) rs587778889
NM_000249.3(MLH1):c.114C>G (p.Asn38Lys) rs267607706
NM_000249.3(MLH1):c.1150del (p.Val384fs) rs63749965
NM_000249.3(MLH1):c.116+1G>A rs267607709
NM_000249.3(MLH1):c.116+5G>C rs267607710
NM_000249.3(MLH1):c.1163_1164ins4
NM_000249.3(MLH1):c.117-2A>G rs267607712
NM_000249.3(MLH1):c.117-691_306+1011del
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.1171C>T (p.Gln391Ter) rs587778894
NM_000249.3(MLH1):c.1190del (p.Leu397fs) rs63750749
NM_000249.3(MLH1):c.1192C>T (p.Gln398Ter) rs63750483
NM_000249.3(MLH1):c.119del (p.Cys39_Leu40insTer) rs587778896
NM_000249.3(MLH1):c.1210_1211del (p.Leu404fs) rs63751015
NM_000249.3(MLH1):c.1210dup (p.Leu404fs) rs587778898
NM_000249.3(MLH1):c.1217_1223dup (p.Gln409fs) rs587778899
NM_000249.3(MLH1):c.1218del (p.Gln407fs) rs587778900
NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.3(MLH1):c.121G>C (p.Asp41His) rs267607713
NM_000249.3(MLH1):c.1225C>T (p.Gln409Ter) rs63751153
NM_000249.3(MLH1):c.122A>G (p.Asp41Gly) rs63751094
NM_000249.3(MLH1):c.1236_1237CA[1] (p.Thr413fs) rs1553651073
NM_000249.3(MLH1):c.1246A>T (p.Lys416Ter) rs267607823
NM_000249.3(MLH1):c.1252_1253del (p.Asp418fs) rs63751118
NM_000249.3(MLH1):c.1261del (p.Ser421fs) rs63750293
NM_000249.3(MLH1):c.1276C>T (p.Gln426Ter) rs63750316
NM_000249.3(MLH1):c.128_131dup (p.Thr45fs) rs63751431
NM_000249.3(MLH1):c.129dup (p.Ser44fs) rs63750867
NM_000249.3(MLH1):c.1310del (p.Pro437fs) rs63750748
NM_000249.3(MLH1):c.131C>A (p.Ser44Tyr) rs63751109
NM_000249.3(MLH1):c.131C>T (p.Ser44Phe) rs63751109
NM_000249.3(MLH1):c.1325_1346del22ins5
NM_000249.3(MLH1):c.1325_1346delinsATTTT (p.Ala442fs) rs587778903
NM_000249.3(MLH1):c.1334del (p.Gln445fs) rs63749845
NM_000249.3(MLH1):c.1343del (p.Glu448fs) rs63749981
NM_000249.3(MLH1):c.1347_1367delinsTAAA (p.Asp450fs) rs587778905
NM_000249.3(MLH1):c.1348dup (p.Asp450fs) rs587778906
NM_000249.3(MLH1):c.1354del (p.Thr452fs) rs63750071
NM_000249.3(MLH1):c.1358dup (p.Thr455fs) rs1553651429
NM_000249.3(MLH1):c.1362del (p.Thr455fs) rs267607821
NM_000249.3(MLH1):c.1362dup (p.Thr455fs) rs267607821
NM_000249.3(MLH1):c.1377del (p.Glu460fs) rs587778908
NM_000249.3(MLH1):c.1377dup (p.Glu460fs) rs63750020
NM_000249.3(MLH1):c.1378_1379GA[1] (p.Lys461fs) rs587778909
NM_000249.3(MLH1):c.1381A>T (p.Lys461Ter) rs63750540
NM_000249.3(MLH1):c.1398del (p.Ser467fs) rs63750713
NM_000249.3(MLH1):c.1409+1127_1558+4255del
NM_000249.3(MLH1):c.1409+1156_1558+1385del
NM_000249.3(MLH1):c.1409+1G>C rs267607825
NM_000249.3(MLH1):c.1410-2_1410-1delinsCC rs1559558071
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.1411_1414delAAGA rs63751592
NM_000249.3(MLH1):c.1412dup (p.Arg472fs) rs63751677
NM_000249.3(MLH1):c.1413_1414GA[1] (p.Arg472fs) rs281864936
NM_000249.3(MLH1):c.1413_1416del (p.Lys471fs) rs281864936
NM_000249.3(MLH1):c.1414dup (p.Arg472fs) rs63751468
NM_000249.3(MLH1):c.1415_1427del (p.Arg472fs) rs587778912
NM_000249.3(MLH1):c.1420del (p.Arg474fs) rs63750482
NM_000249.3(MLH1):c.142C>T (p.Gln48Ter) rs587778913
NM_000249.3(MLH1):c.1441del (p.Met481fs) rs878853777
NM_000249.3(MLH1):c.1449del (p.Asp484fs) rs587778915
NM_000249.3(MLH1):c.1459C>T (p.Arg487Ter) rs63749795
NM_000249.3(MLH1):c.1462A>T (p.Lys488Ter) rs587778918
NM_000249.3(MLH1):c.1463del (p.Lys488fs) rs63749876
NM_000249.3(MLH1):c.1464_1468del (p.Lys488fs) rs587778919
NM_000249.3(MLH1):c.146T>A (p.Val49Glu) rs63750098
NM_000249.3(MLH1):c.1489del (p.Arg497fs) rs63750855
NM_000249.3(MLH1):c.1489dup (p.Arg497fs) rs63750855
NM_000249.3(MLH1):c.1491del (p.Arg498fs) rs63751435
NM_000249.3(MLH1):c.1500_1502del (p.Ile501del) rs587778920
NM_000249.3(MLH1):c.150dup (p.Val51fs) rs63749956
NM_000249.3(MLH1):c.1520del (p.Val506_Leu507insTer) rs63749916
NM_000249.3(MLH1):c.1520dup (p.Leu507fs) rs63749916
NM_000249.3(MLH1):c.1528C>T (p.Gln510Ter) rs63749923
NM_000249.3(MLH1):c.1534G>T (p.Glu512Ter) rs63751472
NM_000249.3(MLH1):c.153dup (p.Lys52Ter) rs587778922
NM_000249.3(MLH1):c.1542dup (p.Glu515Ter) rs63750317
NM_000249.3(MLH1):c.1549G>T (p.Gly517Ter) rs63751705
NM_000249.3(MLH1):c.1552_1553insT (p.His518fs) rs587778924
NM_000249.3(MLH1):c.1552del (p.His518fs) rs587778925
NM_000249.3(MLH1):c.1554dup (p.Glu519Ter) rs63751689
NM_000249.3(MLH1):c.1557_1558insT (p.Val520fs) rs587778926
NM_000249.3(MLH1):c.1558+1G>T rs267607832
NM_000249.3(MLH1):c.1558+1dup rs1553653237
NM_000249.3(MLH1):c.1559-1322_1668-391del
NM_000249.3(MLH1):c.1559-1G>T rs267607837
NM_000249.3(MLH1):c.1559-2A>G rs267607836
NM_000249.3(MLH1):c.1559-2A>T rs267607836
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.155_158del (p.Lys52fs) rs587778923
NM_000249.3(MLH1):c.156del (p.Glu53fs) rs63750028
NM_000249.3(MLH1):c.156dup (p.Glu53fs) rs63750028
NM_000249.3(MLH1):c.1572_1573del (p.Met524fs) rs587778928
NM_000249.3(MLH1):c.1573_1574del (p.Leu525fs) rs63751613
NM_000249.3(MLH1):c.1574T>A (p.Leu525Ter) rs587778929
NM_000249.3(MLH1):c.157_160GAGG[1] (p.Gly54fs) rs587778932
NM_000249.3(MLH1):c.1588_1590del (p.Phe530del) rs587778930
NM_000249.3(MLH1):c.1592_1593del (p.Val531fs) rs587778931
NM_000249.3(MLH1):c.15_28del (p.Gly6fs) rs63751891
NM_000249.3(MLH1):c.1609C>T (p.Gln537Ter) rs63751277
NM_000249.3(MLH1):c.1613G>A (p.Trp538Ter) rs587778933
NM_000249.3(MLH1):c.1614G>A (p.Trp538Ter) rs267607842
NM_000249.3(MLH1):c.161del (p.Gly54fs) rs63751266
NM_000249.3(MLH1):c.1620_1621del (p.Leu540fs) rs63750036
NM_000249.3(MLH1):c.1622del (p.Ala541fs) rs63750824
NM_000249.3(MLH1):c.1624C>T (p.Gln542Ter) rs63750192
NM_000249.3(MLH1):c.1639_1643dup (p.Leu549fs) rs587778934
NM_000249.3(MLH1):c.1640T>A (p.Leu547Ter) rs63750300
NM_000249.3(MLH1):c.1644C>G (p.Tyr548Ter) rs63751087
NM_000249.3(MLH1):c.1649T>C (p.Leu550Pro) rs63750193
NM_000249.3(MLH1):c.1664_1665insAAGT (p.Ser556_Glu557insTer) rs267607699
NM_000249.3(MLH1):c.1667+1_1667+8delinsATTT rs863223312
NM_000249.3(MLH1):c.1667+2T>C rs878853780
NM_000249.3(MLH1):c.1667+2_1667+8delinsATTT rs587778938
NM_000249.3(MLH1):c.1667G>T (p.Ser556Ile) rs63751596
NM_000249.3(MLH1):c.1668-1G>A rs267607845
NM_000249.3(MLH1):c.1668-?_1731+?del
NM_000249.3(MLH1):c.1668-?_1896+?del
NM_000249.3(MLH1):c.1668del (p.Ser556fs) rs587778939
NM_000249.3(MLH1):c.1669G>T (p.Glu557Ter) rs63751244
NM_000249.3(MLH1):c.1672G>T (p.Glu558Ter) rs63751081
NM_000249.3(MLH1):c.1683C>G (p.Tyr561Ter) rs63751393
NM_000249.3(MLH1):c.1684C>T (p.Gln562Ter) rs63751460
NM_000249.3(MLH1):c.1689dup (p.Leu564fs) rs63750464
NM_000249.3(MLH1):c.1690_1693del (p.Leu564fs) rs267607849
NM_000249.3(MLH1):c.1715_1716GT[1] (p.Val573fs) rs63751709
NM_000249.3(MLH1):c.1725del (p.Arg575fs) rs63751685
NM_000249.3(MLH1):c.1731+1G>A rs267607853
NM_000249.3(MLH1):c.1731+270_1896+73del
NM_000249.3(MLH1):c.1731+2T>C rs267607856
NM_000249.3(MLH1):c.1731+5G>A rs267607850
NM_000249.3(MLH1):c.1731+768_1897-222del
NM_000249.3(MLH1):c.1731G>A (p.Ser577=) rs63751657
NM_000249.3(MLH1):c.1732-1G>A rs267607854
NM_000249.3(MLH1):c.1732-2243_1896+404del
NM_000249.3(MLH1):c.1732-2A>T rs267607852
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.1745T>C (p.Leu582Pro) rs63751616
NM_000249.3(MLH1):c.1745del (p.Leu582fs) rs587778942
NM_000249.3(MLH1):c.1748_1749del (p.Leu582_Phe583insTer) rs63750309
NM_000249.3(MLH1):c.1749del (p.Phe583fs) rs63750309
NM_000249.3(MLH1):c.1758del (p.Met587fs) rs63749863
NM_000249.3(MLH1):c.1758dup (p.Met587fs) rs63749863
NM_000249.3(MLH1):c.175dup (p.Ile59fs) rs587778944
NM_000249.3(MLH1):c.1764del (p.Ala589fs) rs63751486
NM_000249.3(MLH1):c.1769T>G (p.Leu590Ter) rs1553662753
NM_000249.3(MLH1):c.1769del (p.Ala589_Leu590insTer) rs63749979
NM_000249.3(MLH1):c.1772_1775del (p.Asp591fs) rs63749868
NM_000249.3(MLH1):c.1778_1779del (p.Pro593fs) rs63750375
NM_000249.3(MLH1):c.1779_1780AG[2] (p.Ser595fs) rs63750035
NM_000249.3(MLH1):c.1790G>A (p.Trp597Ter) rs63750604
NM_000249.3(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs) rs863225378
NM_000249.3(MLH1):c.1800_1818del (p.Glu600fs) rs587778946
NM_000249.3(MLH1):c.1810A>T (p.Lys604Ter) rs63750386
NM_000249.3(MLH1):c.1812dup (p.Glu605fs) rs63751240
NM_000249.3(MLH1):c.1821dup (p.Ala608fs) rs587778947
NM_000249.3(MLH1):c.1829_1832dup (p.Val612fs) rs587778948
NM_000249.3(MLH1):c.1831_1832del (p.Ile611fs) rs63750150
NM_000249.3(MLH1):c.1846_1848AAG[2] (p.Lys618del) rs63751247
NM_000249.3(MLH1):c.184C>T (p.Gln62Ter) rs63751428
NM_000249.3(MLH1):c.1852A>T (p.Lys618Ter) rs35001569
NM_000249.3(MLH1):c.1853delinsTTCTT (p.Lys618fs) rs587778949
NM_000249.3(MLH1):c.1853dup (p.Ala619fs) rs1060500687
NM_000249.3(MLH1):c.1855del (p.Ala619fs) rs63749986
NM_000249.3(MLH1):c.1865T>A (p.Leu622His) rs63750693
NM_000249.3(MLH1):c.1865T>C (p.Leu622Pro) rs63750693
NM_000249.3(MLH1):c.1866del (p.Ala623fs) rs587778950
NM_000249.3(MLH1):c.1875T>G (p.Tyr625Ter) rs63751415
NM_000249.3(MLH1):c.1877_1883del (p.Phe626fs) rs63751594
NM_000249.3(MLH1):c.1877del (p.Phe626fs) rs63750152
NM_000249.3(MLH1):c.1880_1883del (p.Ser627fs) rs587778953
NM_000249.3(MLH1):c.1884_1888del (p.Leu628fs) rs63751639
NM_000249.3(MLH1):c.1893del (p.Asp631fs) rs587778954
NM_000249.3(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.3(MLH1):c.1897-?_1989+?del
NM_000249.3(MLH1):c.189C>A (p.Asp63Glu) rs587778955
NM_000249.3(MLH1):c.18_34del (p.Val7fs) rs63751892
NM_000249.3(MLH1):c.1902del (p.Asn635fs) rs587778956
NM_000249.3(MLH1):c.1904dup (p.Asn635fs) rs587778957
NM_000249.3(MLH1):c.190_191del (p.Asn64fs) rs63750469
NM_000249.3(MLH1):c.1912G>T (p.Gly638Ter) rs63750549
NM_000249.3(MLH1):c.1913_1926dup (p.Ile643delinsAspTyrProPheTer) rs587778958
NM_000249.3(MLH1):c.1914_1942dup (p.Pro648delinsHisTyrProPheTer) rs587778959
NM_000249.3(MLH1):c.1916dup (p.Leu639fs) rs587778960
NM_000249.3(MLH1):c.191dup (p.Asn64fs) rs63751255
NM_000249.3(MLH1):c.1920_1921insT (p.Leu641fs) rs587778961
NM_000249.3(MLH1):c.1930del (p.Asp644fs) rs587778962
NM_000249.3(MLH1):c.1942C>T (p.Pro648Ser) rs63750899
NM_000249.3(MLH1):c.1946del (p.Pro649fs) rs281864938
NM_000249.3(MLH1):c.1953_1956del (p.Glu651fs) rs63751301
NM_000249.3(MLH1):c.195del (p.Thr66fs) rs267607715
NM_000249.3(MLH1):c.1961C>T (p.Pro654Leu) rs63750726
NM_000249.3(MLH1):c.1971del (p.Leu658fs) rs63750115
NM_000249.3(MLH1):c.1975C>T (p.Arg659Ter) rs63751310
NM_000249.3(MLH1):c.1975_1976del (p.Arg659fs) rs63750131
NM_000249.3(MLH1):c.1976G>C (p.Arg659Pro) rs63749900
NM_000249.3(MLH1):c.1976G>T (p.Arg659Leu) rs63749900
NM_000249.3(MLH1):c.1976_1977del (p.Arg659fs) rs63751200
NM_000249.3(MLH1):c.1979T>C (p.Leu660Pro) rs1559591546
NM_000249.3(MLH1):c.1986_1989+1delinsC rs267607873
NM_000249.3(MLH1):c.1988del (p.Glu663fs) rs267607877
NM_000249.3(MLH1):c.1989+1G>A rs267607879
NM_000249.3(MLH1):c.1989+1G>T rs267607879
NM_000249.3(MLH1):c.1989+5G>C rs267607878
NM_000249.3(MLH1):c.1989G>A (p.Glu663=) rs63751662
NM_000249.3(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.3(MLH1):c.198dup (p.Gly67fs) rs587778966
NM_000249.3(MLH1):c.1990-1G>A rs267607884
NM_000249.3(MLH1):c.1990-2A>G rs267607883
NM_000249.3(MLH1):c.1990-?_(*193_?)del
NM_000249.3(MLH1):c.1998G>A (p.Trp666Ter) rs63750639
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.199G>C (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.199G>T (p.Gly67Trp) rs63750206
NM_000249.3(MLH1):c.19_35del (p.Val7fs) rs267607702
NM_000249.3(MLH1):c.1A>G (p.Met1Val) rs587778967
NM_000249.3(MLH1):c.2000dup (p.Asp667fs) rs63750282
NM_000249.3(MLH1):c.2006_2010del (p.Glu669fs) rs63750061
NM_000249.3(MLH1):c.2009_2013del (p.Lys670fs) rs1553664353
NM_000249.3(MLH1):c.2009del (p.Lys670fs) rs63750740
NM_000249.3(MLH1):c.200G>A (p.Gly67Glu) rs63749939
NM_000249.3(MLH1):c.2011G>T (p.Glu671Ter) rs63750663
NM_000249.3(MLH1):c.201del (p.Ile68fs) rs587778968
NM_000249.3(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.3(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.3(MLH1):c.2040C>A (p.Cys680Ter) rs63749867
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.205del (p.Arg69fs) rs63751704
NM_000249.3(MLH1):c.2065C>T (p.Gln689Ter) rs41542214
NM_000249.3(MLH1):c.2067_2073del (p.Gln689fs) rs63750420
NM_000249.3(MLH1):c.207+1245_884+523dup
NM_000249.3(MLH1):c.207+1560_546-871del
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.207+5G>C rs587781518
NM_000249.3(MLH1):c.2076_2077del (p.Glu693fs) rs63750769
NM_000249.3(MLH1):c.2078_2172del (p.Glu693fs)
NM_000249.3(MLH1):c.208-1714_306+641delinsACATAGTA
NM_000249.3(MLH1):c.208-1G>A rs267607717
NM_000249.3(MLH1):c.208-1_208del rs587778973
NM_000249.3(MLH1):c.208-2A>G rs267607716
NM_000249.3(MLH1):c.208-?_306+?del
NM_000249.3(MLH1):c.208-?_453+?del
NM_000249.3(MLH1):c.208-?_545+?del
NM_000249.3(MLH1):c.208-?_790+?del
NM_000249.3(MLH1):c.2084C>A (p.Ser695Ter) rs63749995
NM_000249.3(MLH1):c.2090_2091TC[1] (p.Ser698fs) rs63750859
NM_000249.3(MLH1):c.2093C>G (p.Ser698Ter) rs587778975
NM_000249.3(MLH1):c.2099_2102del (p.Gln700fs) rs63751652
NM_000249.3(MLH1):c.2101C>T (p.Gln701Ter) rs63750114
NM_000249.3(MLH1):c.2103+1G>A rs267607888
NM_000249.3(MLH1):c.2103G>C (p.Gln701His) rs63750603
NM_000249.3(MLH1):c.2104-1G>A rs587778978
NM_000249.3(MLH1):c.2104-2A>T rs267607889
NM_000249.3(MLH1):c.2104-?_*(193_?)del
NM_000249.3(MLH1):c.2104_2105delAG rs63751651
NM_000249.3(MLH1):c.2105_2114del (p.Ser702fs) rs587778979
NM_000249.3(MLH1):c.210_212AGA[1] (p.Glu71del) rs63751642
NM_000249.3(MLH1):c.210_213delAGAA rs267607723
NM_000249.3(MLH1):c.2111_2117del (p.Val704fs) rs587778980
NM_000249.3(MLH1):c.211G>T (p.Glu71Ter) rs63749829
NM_000249.3(MLH1):c.2135G>A (p.Trp712Ter) rs63750561
NM_000249.3(MLH1):c.2136G>A (p.Trp712Ter) rs63750499
NM_000249.3(MLH1):c.2136del (p.Ser711_Trp712insTer) rs1060500706
NM_000249.3(MLH1):c.2141G>A (p.Trp714Ter) rs63751022
NM_000249.3(MLH1):c.2142G>A (p.Trp714Ter) rs63750978
NM_000249.3(MLH1):c.2145_2146TG[1] (p.Val716fs) rs587778981
NM_000249.3(MLH1):c.2149_2195dup (p.His733fs) rs587778982
NM_000249.3(MLH1):c.2152_2153CA[1] (p.Ile719fs) rs63750971
NM_000249.3(MLH1):c.2152_2153CA[3] (p.Ile719fs) rs63750971
NM_000249.3(MLH1):c.2157dup (p.Val720fs) rs587778984
NM_000249.3(MLH1):c.2163T>A (p.Tyr721Ter) rs63750484
NM_000249.3(MLH1):c.2177_2178CA[1] (p.His727fs) rs267607898
NM_000249.3(MLH1):c.2177_2178CA[2] (p.Ile728fs) rs267607898
NM_000249.3(MLH1):c.2194A>T (p.Lys732Ter) rs267607906
NM_000249.3(MLH1):c.2195_2198dup (p.His733fs) rs267607903
NM_000249.3(MLH1):c.2218dup (p.Ile740fs) rs587778989
NM_000249.3(MLH1):c.2221_2224delCTGCins30 (p.?)
NM_000249.3(MLH1):c.2223_2233del (p.Gln742fs) rs267607897
NM_000249.3(MLH1):c.2224C>T (p.Gln742Ter) rs587778992
NM_000249.3(MLH1):c.2224del (p.Gln742fs) rs267607896
NM_000249.3(MLH1):c.2246T>C (p.Leu749Pro) rs267607894
NM_000249.3(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.3(MLH1):c.2252_2253del (p.Lys751fs) rs267607901
NM_000249.3(MLH1):c.2263A>G (p.Arg755Gly) rs267607900
NM_000249.3(MLH1):c.2266_2269dup (p.Ter757LeuextTer?) rs267607892
NM_000249.3(MLH1):c.2269dup (p.Ter757LeuextTer?) rs1553666143
NM_000249.3(MLH1):c.229T>C (p.Cys77Arg) rs63749859
NM_000249.3(MLH1):c.229_230TG[1] (p.Cys77_Glu78delinsTer) rs63750052
NM_000249.3(MLH1):c.22dup (p.Ile8fs) rs587778996
NM_000249.3(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.3(MLH1):c.232del (p.Glu78fs) rs587778997
NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.3(MLH1):c.244dup (p.Thr82fs) rs267607729
NM_000249.3(MLH1):c.245C>T (p.Thr82Ile) rs63750005
NM_000249.3(MLH1):c.256C>T (p.Gln86Ter) rs63751421
NM_000249.3(MLH1):c.25_26delinsTA (p.Arg9Ter) rs869312767
NM_000249.3(MLH1):c.261del (p.Phe88fs) rs267607728
NM_000249.3(MLH1):c.265G>T (p.Glu89Ter) rs11541859
NM_000249.3(MLH1):c.268del (p.Asp90fs) rs1060500688
NM_000249.3(MLH1):c.298C>T (p.Arg100Ter) rs63751221
NM_000249.3(MLH1):c.299G>C (p.Arg100Pro) rs63750266
NM_000249.3(MLH1):c.2T>A (p.Met1Lys) rs111052004
NM_000249.3(MLH1):c.2T>C (p.Met1Thr) rs111052004
NM_000249.3(MLH1):c.2T>G (p.Met1Arg) rs111052004
NM_000249.3(MLH1):c.306+1G>A rs267607734
NM_000249.3(MLH1):c.306+2T>G rs1553640340
NM_000249.3(MLH1):c.306+2dup rs267607738
NM_000249.3(MLH1):c.306+5G>A rs267607735
NM_000249.3(MLH1):c.306G>C (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.307-1420_380+624del
NM_000249.3(MLH1):c.307-245_454-365del
NM_000249.3(MLH1):c.307-797_677+1061del
NM_000249.3(MLH1):c.307-820_380+896del
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.31del (p.Leu11fs) rs63749816
NM_000249.3(MLH1):c.320T>G (p.Ile107Arg) rs63750507
NM_000249.3(MLH1):c.322_335del (p.Ser108fs) rs1553641269
NM_000249.3(MLH1):c.341del (p.Thr114fs) rs63750645
NM_000249.3(MLH1):c.346del (p.Thr116fs) rs63750906
NM_000249.3(MLH1):c.346dup (p.Thr116fs) rs267607739
NM_000249.3(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000249.3(MLH1):c.354_355dup (p.Thr119fs) rs63750658
NM_000249.3(MLH1):c.367A>T (p.Lys123Ter) rs63750542
NM_000249.3(MLH1):c.370_371TG[1] (p.Ala125fs) rs587779006
NM_000249.3(MLH1):c.378C>G (p.Tyr126Ter) rs63751606
NM_000249.3(MLH1):c.378del (p.Ala125_Tyr126insTer) rs63751607
NM_000249.3(MLH1):c.37G>T (p.Glu13Ter) rs587779008
NM_000249.3(MLH1):c.37_38GA[3] (p.Thr14fs) rs587779013
NM_000249.3(MLH1):c.37del (p.Glu13fs) rs63750081
NM_000249.3(MLH1):c.380+1G>A rs267607745
NM_000249.3(MLH1):c.380+1G>T rs267607745
NM_000249.3(MLH1):c.380+2T>A rs267607742
NM_000249.3(MLH1):c.380G>A (p.Arg127Lys) rs63751595
NM_000249.3(MLH1):c.381-415_453+733del
NM_000249.3(MLH1):c.381-?_545+?del
NM_000249.3(MLH1):c.381-?_677+?del
NM_000249.3(MLH1):c.382G>C (p.Ala128Pro) rs63750866
NM_000249.3(MLH1):c.382_402delinsT (p.Ala128fs) rs267607746
NM_000249.3(MLH1):c.382del (p.Ala128fs) rs63750865
NM_000249.3(MLH1):c.385_386delinsGTT (p.Ser129fs) rs63751710
NM_000249.3(MLH1):c.388del (p.Tyr130fs) rs587779009
NM_000249.3(MLH1):c.389del (p.Tyr130fs) rs587779012
NM_000249.3(MLH1):c.38_39insCCCA (p.Glu13fs) rs63750057
NM_000249.3(MLH1):c.38dup (p.Thr14fs) rs63750057
NM_000249.3(MLH1):c.392C>A (p.Ser131Ter) rs63749818
NM_000249.3(MLH1):c.397G>T (p.Gly133Ter) rs63751124
NM_000249.3(MLH1):c.3G>A (p.Met1Ile) rs72481822
NM_000249.3(MLH1):c.404_407del (p.Leu135fs) rs587779014
NM_000249.3(MLH1):c.420del (p.Lys140fs) rs587779015
NM_000249.3(MLH1):c.428dup (p.Gly144fs) rs63751045
NM_000249.3(MLH1):c.436C>T (p.Gln146Ter) rs63749820
NM_000249.3(MLH1):c.445C>T (p.Gln149Ter) rs63751302
NM_000249.3(MLH1):c.44dup (p.Val16fs) rs63751131
NM_000249.3(MLH1):c.453+1G>T rs267607750
NM_000249.3(MLH1):c.453+2T>C rs267607751
NM_000249.3(MLH1):c.453+2T>G rs267607751
NM_000249.3(MLH1):c.454-1G>A rs193922370
NM_000249.3(MLH1):c.454-432_546-1030del
NM_000249.3(MLH1):c.454-466_546-1062del
NM_000249.3(MLH1):c.454-505_546-1102del
NM_000249.3(MLH1):c.454-665_545+49del rs1553642492
NM_000249.3(MLH1):c.454-?_1409+?dup
NM_000249.3(MLH1):c.454-?_545+?del
NM_000249.3(MLH1):c.456_545+2del rs1553642657
NM_000249.3(MLH1):c.464T>G (p.Leu155Arg) rs63750891
NM_000249.3(MLH1):c.468_469del (p.Phe156fs) rs63751101
NM_000249.3(MLH1):c.488del (p.Arg163fs) rs267607754
NM_000249.3(MLH1):c.492del (p.Ala165fs) rs1553642698
NM_000249.3(MLH1):c.497T>A (p.Leu166Ter) rs267607755
NM_000249.3(MLH1):c.497del (p.Ala165_Leu166insTer) rs587779018
NM_000249.3(MLH1):c.502_503del (p.Asn168fs) rs63749959
NM_000249.3(MLH1):c.503dup (p.Asn168fs) rs63749959
NM_000249.3(MLH1):c.513del (p.Glu172fs) rs63749944
NM_000249.3(MLH1):c.514G>T (p.Glu172Ter) rs1559524405
NM_000249.3(MLH1):c.524_525insGA (p.Ile176fs) rs587779019
NM_000249.3(MLH1):c.52del (p.Arg18fs) rs63749804
NM_000249.3(MLH1):c.531_532delinsAT (p.Glu178Ter) rs63750903
NM_000249.3(MLH1):c.531_532delinsCT (p.Leu177_Glu178delinsPheTer) rs63750903
NM_000249.3(MLH1):c.543C>T (p.Gly181=) rs1481129490
NM_000249.3(MLH1):c.544A>G (p.Arg182Gly) rs63750211
NM_000249.3(MLH1):c.545+1G>A rs267607765
NM_000249.3(MLH1):c.545+3A>G rs267607760
NM_000249.3(MLH1):c.545G>A (p.Arg182Lys) rs587779021
NM_000249.3(MLH1):c.546-2A>C rs267607759
NM_000249.3(MLH1):c.546-2A>G rs267607759
NM_000249.3(MLH1):c.546-361_885-811del
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.554T>G (p.Val185Gly) rs63750515
NM_000249.3(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.3(MLH1):c.578C>G (p.Ser193Ter) rs63751480
NM_000249.3(MLH1):c.586A>T (p.Lys196Ter) rs63750500
NM_000249.3(MLH1):c.588+1G>T rs267607772
NM_000249.3(MLH1):c.588+5G>A rs267607768
NM_000249.3(MLH1):c.588del (p.Lys196fs) rs63751653
NM_000249.3(MLH1):c.589-2A>G rs267607767
NM_000249.3(MLH1):c.589C>T (p.Gln197Ter) rs1553644123
NM_000249.3(MLH1):c.593_594GA[2] (p.Glu199fs) rs63751637
NM_000249.3(MLH1):c.5C>A (p.Ser2Ter) rs587779029
NM_000249.3(MLH1):c.604del (p.Ala202fs) rs1553644155
NM_000249.3(MLH1):c.61del (p.Ala21fs) rs63750581
NM_000249.3(MLH1):c.62C>A (p.Ala21Glu) rs63750706
NM_000249.3(MLH1):c.62C>T (p.Ala21Val) rs63750706
NM_000249.3(MLH1):c.632_633insT (p.Thr212fs) rs63750908
NM_000249.3(MLH1):c.649del (p.Arg217fs) rs63750380
NM_000249.3(MLH1):c.665del (p.Asn222fs) rs63750385
NM_000249.3(MLH1):c.665dup (p.Asn222fs) rs63750385
NM_000249.3(MLH1):c.672del (p.Ser225fs) rs587779031
NM_000249.3(MLH1):c.673_676del (p.Ser225fs) rs267607774
NM_000249.3(MLH1):c.676C>T (p.Arg226Ter) rs63751615
NM_000249.3(MLH1):c.677+1G>T rs267607778
NM_000249.3(MLH1):c.677+3A>G rs267607780
NM_000249.3(MLH1):c.677G>A (p.Arg226Gln) rs63751711
NM_000249.3(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.3(MLH1):c.677_677+1delinsAT rs587779032
NM_000249.3(MLH1):c.678-1G>C rs267607784
NM_000249.3(MLH1):c.678-3_678-2del rs267607783
NM_000249.3(MLH1):c.678-9_693del rs587779036
NM_000249.3(MLH1):c.678-?_1558+?del
NM_000249.3(MLH1):c.678-?_884+?del
NM_000249.3(MLH1):c.67G>T (p.Glu23Ter) rs63750823
NM_000249.3(MLH1):c.67del (p.Glu23fs) rs63750822
NM_000249.3(MLH1):c.683dup (p.Ile229fs) rs63751659
NM_000249.3(MLH1):c.693del (p.Ile231fs) rs63750764
NM_000249.3(MLH1):c.699T>A (p.Cys233Ter) rs764085979
NM_000249.3(MLH1):c.706_725del (p.Lys236fs) rs863224480
NM_000249.3(MLH1):c.70del (p.Val24fs) rs63751396
NM_000249.3(MLH1):c.723_726AATG[1] (p.Asn243fs) rs267607787
NM_000249.3(MLH1):c.731G>A (p.Gly244Asp) rs63750303
NM_000249.3(MLH1):c.731_734del (p.Gly244fs) rs587779037
NM_000249.3(MLH1):c.739T>C (p.Ser247Pro) rs63750948
NM_000249.3(MLH1):c.73del (p.Ile25fs) rs63749839
NM_000249.3(MLH1):c.745dup (p.Ala249fs) rs63750819
NM_000249.3(MLH1):c.753_755del (p.Tyr251_Ser252delinsTer) rs1553645256
NM_000249.3(MLH1):c.755C>A (p.Ser252Ter) rs63750198
NM_000249.3(MLH1):c.76C>T (p.Gln26Ter) rs63749827
NM_000249.3(MLH1):c.76del (p.Gln26fs) rs63749828
NM_000249.3(MLH1):c.779T>G (p.Leu260Arg) rs63751283
NM_000249.3(MLH1):c.782_784TCA[1] (p.Ile262del) rs587779039
NM_000249.3(MLH1):c.78del (p.Gln26fs) rs587779040
NM_000249.3(MLH1):c.790+1G>A rs267607789
NM_000249.3(MLH1):c.790+1del rs267607798
NM_000249.3(MLH1):c.790+2T>A rs267607790
NM_000249.3(MLH1):c.790+2T>C rs267607790
NM_000249.3(MLH1):c.790+2dup rs267607791
NM_000249.3(MLH1):c.790+3A>T rs267607792
NM_000249.3(MLH1):c.790+4A>G rs267607786
NM_000249.3(MLH1):c.790+5G>A rs267607771
NM_000249.3(MLH1):c.790+5G>T rs267607771
NM_000249.3(MLH1):c.791-1G>A rs267607795
NM_000249.3(MLH1):c.791-1G>C rs267607795
NM_000249.3(MLH1):c.791-4_795del rs587779041
NM_000249.3(MLH1):c.791-5T>G rs267607788
NM_000249.3(MLH1):c.791-?_1558+?del
NM_000249.3(MLH1):c.791-?_884+?del
NM_000249.3(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.3(MLH1):c.793_794delinsGT (p.Arg265Val) rs1559539068
NM_000249.3(MLH1):c.806C>G (p.Ser269Ter) rs63750691
NM_000249.3(MLH1):c.808_811del (p.Thr270fs) rs267607801
NM_000249.3(MLH1):c.811_815del (p.Ser271fs) rs587779043
NM_000249.3(MLH1):c.821_824dup (p.Ile276fs) rs63751439
NM_000249.3(MLH1):c.826dup (p.Ile276fs) rs878853792
NM_000249.3(MLH1):c.827T>G (p.Ile276Arg) rs1253275403
NM_000249.3(MLH1):c.827_831del (p.Ile276fs) rs1553646669
NM_000249.3(MLH1):c.83C>T (p.Pro28Leu) rs63750792
NM_000249.3(MLH1):c.840T>A (p.Tyr280Ter) rs63750938
NM_000249.3(MLH1):c.842C>T (p.Ala281Val) rs63749950
NM_000249.3(MLH1):c.84del (p.Ala29fs) rs587779045
NM_000249.3(MLH1):c.851T>A (p.Leu284Ter) rs63750889
NM_000249.3(MLH1):c.856_857insT (p.Lys286fs) rs63750212
NM_000249.3(MLH1):c.859_860del (p.Asn287fs) rs63750034
NM_000249.3(MLH1):c.860_861AC[3] (p.His289fs) rs587779047
NM_000249.3(MLH1):c.860_861AC[5] (p.Pro290fs) rs587779047
NM_000249.3(MLH1):c.860del (p.Asn287fs) rs63750034
NM_000249.3(MLH1):c.860dup (p.Asn287fs) rs63750034
NM_000249.3(MLH1):c.86C>G (p.Ala29Gly) rs63750216
NM_000249.3(MLH1):c.882C>T (p.Leu294=) rs63751707
NM_000249.3(MLH1):c.883A>C (p.Ser295Arg) rs63751598
NM_000249.3(MLH1):c.883A>G (p.Ser295Gly) rs63751598
NM_000249.3(MLH1):c.884+4A>G rs267607777
NM_000249.3(MLH1):c.884G>A (p.Ser295Asn) rs63750144
NM_000249.3(MLH1):c.884_884+3del rs587779050
NM_000249.3(MLH1):c.885-1G>A rs1553647894
NM_000249.3(MLH1):c.885-206_997del rs1553647795
NM_000249.3(MLH1):c.885-493_1039-372del
NM_000249.3(MLH1):c.885-594_1038+1123del
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.887T>G (p.Leu296Ter) rs63750547
NM_000249.3(MLH1):c.887dup (p.Leu296fs) rs63751620
NM_000249.3(MLH1):c.888del (p.Glu297fs) rs267607809
NM_000249.3(MLH1):c.889G>T (p.Glu297Ter) rs63750736
NM_000249.3(MLH1):c.898_908del (p.Pro300fs) rs1553647928
NM_000249.3(MLH1):c.901C>T (p.Gln301Ter) rs63750489
NM_000249.3(MLH1):c.901del (p.Gln301fs) rs587779052
NM_000249.3(MLH1):c.906_907TG[1] (p.Val303fs) rs1553647947
NM_000249.3(MLH1):c.918T>A (p.Asn306Lys) rs587779054
NM_000249.3(MLH1):c.921_922dup (p.His308fs) rs63750962
NM_000249.3(MLH1):c.928del (p.Thr310fs) rs587779055
NM_000249.3(MLH1):c.935dup (p.His312fs) rs63750319
NM_000249.3(MLH1):c.939dup (p.Val314fs) rs63751259
NM_000249.3(MLH1):c.949del (p.Leu317fs) rs1553648029
NM_000249.3(MLH1):c.954del (p.His318fs) rs63749926
NM_000249.3(MLH1):c.955G>T (p.Glu319Ter) rs63750796
NM_000249.3(MLH1):c.959_960AG[3] (p.Ser321fs) rs878853794
NM_000249.3(MLH1):c.963_1014dup (p.Ser339fs) rs1553648058
NM_000249.3(MLH1):c.982C>T (p.Gln328Ter) rs587779058
NM_000249.3(MLH1):c.986A>C (p.His329Pro) rs63750710
NM_000249.3(MLH1):c.994del (p.Ser332fs) rs63750533
NM_000249.3(MLH1):c.9del (p.Phe3fs) rs63750745
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.512_513insAlu
NM_000251.1(MSH2):c.(?_-68)_(*272_?)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.1276+232_1386+3798del
NM_000251.1(MSH2):c.1387-3976_1662-364del
NM_000251.1(MSH2):c.1662-374_2458+467del
NM_000251.1(MSH2):c.1759+305_2006-34del
NM_000251.1(MSH2):c.1760-361_2634+838del
NM_000251.1(MSH2):c.211+1566_1277-3954del
NM_000251.1(MSH2):c.2210+116_2562del
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.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.(?_-68)_1276+?del
NM_000251.2(MSH2):c.(?_-68)_1386+?del
NM_000251.2(MSH2):c.(?_-68)_1661+?del
NM_000251.2(MSH2):c.(?_-68)_1759+?del
NM_000251.2(MSH2):c.(?_-68)_211+?del
NM_000251.2(MSH2):c.(?_-68)_2634+?del
NM_000251.2(MSH2):c.(?_-68)_366+?del
NM_000251.2(MSH2):c.(?_-68)_645+?del
NM_000251.2(MSH2):c.(?_-68)_792+?del
NM_000251.2(MSH2):c.(?_-68)_942+?del
NM_000251.2(MSH2):c.-125_1076+?del
NM_000251.2(MSH2):c.-125_645+?del
NM_000251.2(MSH2):c.1000A>T (p.Lys334Ter) rs587779063
NM_000251.2(MSH2):c.1007del (p.Pro336fs) rs587779064
NM_000251.2(MSH2):c.1008del (p.Gln337fs) rs879253899
NM_000251.2(MSH2):c.1009C>T (p.Gln337Ter) rs63750778
NM_000251.2(MSH2):c.1013G>A (p.Gly338Glu) rs587779065
NM_000251.2(MSH2):c.1017_1018del (p.Arg340fs) rs63750703
NM_000251.2(MSH2):c.1018dup (p.Arg340fs) rs63750703
NM_000251.2(MSH2):c.1030C>T (p.Gln344Ter) rs63750245
NM_000251.2(MSH2):c.1034G>A (p.Trp345Ter) rs63751027
NM_000251.2(MSH2):c.1035G>A (p.Trp345Ter) rs63750396
NM_000251.2(MSH2):c.1037_1038dup (p.Lys347fs) rs63751483
NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.2(MSH2):c.1046C>G (p.Pro349Arg) rs587779067
NM_000251.2(MSH2):c.1046C>T (p.Pro349Leu) rs587779067
NM_000251.2(MSH2):c.1059del (p.Asn354fs) rs587779068
NM_000251.2(MSH2):c.1075A>T (p.Arg359Ter) rs587779070
NM_000251.2(MSH2):c.1076+1G>A rs267607940
NM_000251.2(MSH2):c.1077-135_1276+119dup rs1553356484
NM_000251.2(MSH2):c.1077-1G>T rs267607944
NM_000251.2(MSH2):c.1077-220_1276+6245del
NM_000251.2(MSH2):c.1077-2A>C rs267607943
NM_000251.2(MSH2):c.1077-?_*(272_?)del
NM_000251.2(MSH2):c.1077-?_1276+?del
NM_000251.2(MSH2):c.1077-?_1276+?dup200 rs1553356518
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.1077A>T (p.Arg359Ser) rs63751617
NM_000251.2(MSH2):c.1077_1078ins173 (p.?)
NM_000251.2(MSH2):c.1077_1276del200 (p.Leu360Lysfs) rs1553356518
NM_000251.2(MSH2):c.1097_1098insA (p.Phe366fs) rs267607693
NM_000251.2(MSH2):c.1099del (p.Phe366_Val367insTer) rs587779073
NM_000251.2(MSH2):c.1108del (p.Ala370fs) rs63749814
NM_000251.2(MSH2):c.110del (p.Phe37fs) rs63751056
NM_000251.2(MSH2):c.1119del (p.Arg373fs) rs63750516
NM_000251.2(MSH2):c.1120C>T (p.Gln374Ter) rs63750558
NM_000251.2(MSH2):c.1127_1128dup (p.Gln377fs) rs63751219
NM_000251.2(MSH2):c.1129C>T (p.Gln377Ter) rs63750267
NM_000251.2(MSH2):c.1139del (p.Leu380fs) rs63750039
NM_000251.2(MSH2):c.1144dup (p.Arg382fs) rs63750496
NM_000251.2(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.2(MSH2):c.1165C>T (p.Arg389Ter) rs587779075
NM_000251.2(MSH2):c.1183C>T (p.Gln395Ter) rs63750302
NM_000251.2(MSH2):c.1189C>T (p.Gln397Ter) rs63750611
NM_000251.2(MSH2):c.1192dup (p.Ala398fs) rs63751169
NM_000251.2(MSH2):c.1196_1197dup (p.Asn400fs) rs63749850
NM_000251.2(MSH2):c.119del (p.Gly40fs) rs63750984
NM_000251.2(MSH2):c.1201_1202dup (p.Leu401fs) rs869312768
NM_000251.2(MSH2):c.1203dup (p.Gln402fs) rs63750586
NM_000251.2(MSH2):c.1204C>T (p.Gln402Ter) rs63751412
NM_000251.2(MSH2):c.1204del (p.Gln402fs) rs63751413
NM_000251.2(MSH2):c.1215C>A (p.Tyr405Ter) rs63751271
NM_000251.2(MSH2):c.1215C>G (p.Tyr405Ter) rs63751271
NM_000251.2(MSH2):c.1216C>T (p.Arg406Ter) rs63751108
NM_000251.2(MSH2):c.1216_1219dup (p.Leu407fs) rs63751192
NM_000251.2(MSH2):c.1219_1220CT[1] (p.Tyr408fs) rs587779076
NM_000251.2(MSH2):c.1222dup (p.Tyr408fs) rs63751142
NM_000251.2(MSH2):c.1226_1227del (p.Gln409fs) rs63750086
NM_000251.2(MSH2):c.1243_1246del (p.Pro415fs) rs63751206
NM_000251.2(MSH2):c.1249_1253del (p.Val417fs) rs587779079
NM_000251.2(MSH2):c.1249del (p.Val417fs) rs63751059
NM_000251.2(MSH2):c.1251_1268delinsAGTT (p.Ile418fs) rs863225388
NM_000251.2(MSH2):c.1255C>T (p.Gln419Ter) rs63750006
NM_000251.2(MSH2):c.1264G>T (p.Glu422Ter) rs63751712
NM_000251.2(MSH2):c.1269dup (p.His424fs) rs63751667
NM_000251.2(MSH2):c.1271dup (p.His424fs) rs587783055
NM_000251.2(MSH2):c.1276+1G>A rs267607950
NM_000251.2(MSH2):c.1277-1G>A rs267607948
NM_000251.2(MSH2):c.1277-2A>G rs267607949
NM_000251.2(MSH2):c.1277-4076_1386+1819del
NM_000251.2(MSH2):c.1277-571_1386+2327del
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_?)del
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.1285C>T (p.Gln429Ter) rs63751693
NM_000251.2(MSH2):c.1287dup (p.Lys430fs) rs63751626
NM_000251.2(MSH2):c.1288A>T (p.Lys430Ter) rs63751646
NM_000251.2(MSH2):c.1292T>A (p.Leu431Ter) rs63751315
NM_000251.2(MSH2):c.1293dup (p.Leu432fs) rs1553361162
NM_000251.2(MSH2):c.129T>G (p.Tyr43Ter) rs63750894
NM_000251.2(MSH2):c.1311_1334del24insNM_000251.1:c.1338_1361inv24 (p.Thr438_Ser445delinsPheSerLysPheGlnGluMetIle)
NM_000251.2(MSH2):c.1316_1317CT[1] (p.Leu440fs) rs587779083
NM_000251.2(MSH2):c.1319T>C (p.Leu440Pro) rs587779084
NM_000251.2(MSH2):c.1321dup (p.Thr441fs) rs63750807
NM_000251.2(MSH2):c.1340_1341insGG (p.Phe447fs) rs267607696
NM_000251.2(MSH2):c.1345A>T (p.Lys449Ter) rs63749920
NM_000251.2(MSH2):c.1345_1348del (p.Lys449fs) rs267607955
NM_000251.2(MSH2):c.1352_1353del (p.Gln451fs) rs63750957
NM_000251.2(MSH2):c.1354G>T (p.Glu452Ter) rs267607954
NM_000251.2(MSH2):c.1358T>A (p.Met453Lys) rs63750697
NM_000251.2(MSH2):c.136_164del (p.His46fs) rs63751482
NM_000251.2(MSH2):c.1373T>G (p.Leu458Ter) rs63750521
NM_000251.2(MSH2):c.1384C>T (p.Gln462Ter) rs876657701
NM_000251.2(MSH2):c.1386+1G>A rs267607957
NM_000251.2(MSH2):c.1387-9T>A rs587779087
NM_000251.2(MSH2):c.1387-?_*(272_?)del
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.1390del (p.Glu464fs) rs587779088
NM_000251.2(MSH2):c.1399G>T (p.Glu467Ter) rs587779089
NM_000251.2(MSH2):c.1404_1410del (p.Phe468fs) rs878853802
NM_000251.2(MSH2):c.1405del (p.Leu469_Val470insTer) rs1060502027
NM_000251.2(MSH2):c.1408del (p.Leu469_Val470insTer) rs63750384
NM_000251.2(MSH2):c.1418C>G (p.Ser473Ter) rs63751403
NM_000251.2(MSH2):c.142G>T (p.Glu48Ter) rs63750615
NM_000251.2(MSH2):c.1431_1432TC[3] (p.Glu480fs) rs587779091
NM_000251.2(MSH2):c.1442T>A (p.Leu481Ter) rs786203036
NM_000251.2(MSH2):c.1444A>T (p.Arg482Ter) rs587779092
NM_000251.2(MSH2):c.1444del (p.Arg482fs) rs63750068
NM_000251.2(MSH2):c.1444dup (p.Arg482fs) rs63750068
NM_000251.2(MSH2):c.1445_1446GA[1] (p.Glu483fs) rs63750161
NM_000251.2(MSH2):c.1445_1449del (p.Arg482fs) rs267607961
NM_000251.2(MSH2):c.1447G>T (p.Glu483Ter) rs63749947
NM_000251.2(MSH2):c.1457_1460delATGA rs1114167806
NM_000251.2(MSH2):c.1457del (p.Asn486fs) rs63750986
NM_000251.2(MSH2):c.145_146del (p.Asp49fs) rs63750334
NM_000251.2(MSH2):c.145del (p.Asp49fs) rs63750644
NM_000251.2(MSH2):c.1470_1473delinsAAA (p.Met492fs) rs1060502029
NM_000251.2(MSH2):c.1476_1477delinsCT (p.Met492_Gln493delinsIleTer) rs63750583
NM_000251.2(MSH2):c.1477C>T (p.Gln493Ter) rs63750936
NM_000251.2(MSH2):c.1487T>A (p.Leu496Ter) rs587779093
NM_000251.2(MSH2):c.1494dup (p.Ala499fs) rs63750362
NM_000251.2(MSH2):c.1497del (p.Ala500fs) rs63749963
NM_000251.2(MSH2):c.1500dup (p.Arg501fs) rs587779094
NM_000251.2(MSH2):c.1511-1G>A rs267607964
NM_000251.2(MSH2):c.1511-2A>G rs267607962
NM_000251.2(MSH2):c.1511-?_2005+?del
NM_000251.2(MSH2):c.1520del (p.Pro507fs) rs1553366510
NM_000251.2(MSH2):c.1528C>T (p.Gln510Ter) rs587779097
NM_000251.2(MSH2):c.1534_1543del (p.Lys512fs) rs1553366522
NM_000251.2(MSH2):c.154_155insG (p.Leu52fs) rs63750352
NM_000251.2(MSH2):c.1550_1551CA[1] (p.Gln518fs) rs63749930
NM_000251.2(MSH2):c.1552C>T (p.Gln518Ter) rs63750780
NM_000251.2(MSH2):c.1557del (p.Phe519fs) rs1553366554
NM_000251.2(MSH2):c.1560dup (p.Tyr521fs) rs1553366561
NM_000251.2(MSH2):c.1566C>G (p.Tyr522Ter) rs63750224
NM_000251.2(MSH2):c.1571G>C (p.Arg524Pro) rs63751207
NM_000251.2(MSH2):c.1576del (p.Thr526fs) rs63750094
NM_000251.2(MSH2):c.1578del (p.Cys527fs) rs63750738
NM_000251.2(MSH2):c.1587del (p.Glu530fs) rs63750845
NM_000251.2(MSH2):c.1594dup (p.Val532fs) rs63750104
NM_000251.2(MSH2):c.1627del (p.Asp543fs) rs63750675
NM_000251.2(MSH2):c.1637dup (p.Asn547fs) rs1553366642
NM_000251.2(MSH2):c.1638_1639dup (p.Asn547fs) rs63750662
NM_000251.2(MSH2):c.163del (p.Arg55fs) rs63750337
NM_000251.2(MSH2):c.1656del (p.Asn553fs) rs1114167817
NM_000251.2(MSH2):c.1660A>G (p.Ser554Gly) rs63751656
NM_000251.2(MSH2):c.1660A>T (p.Ser554Cys) rs63751656
NM_000251.2(MSH2):c.1661+1G>T rs267607969
NM_000251.2(MSH2):c.1661+5G>C rs267607972
NM_000251.2(MSH2):c.1661G>C (p.Ser554Thr) rs63750597
NM_000251.2(MSH2):c.1662-1G>A rs267607970
NM_000251.2(MSH2):c.1662-2A>G rs267607971
NM_000251.2(MSH2):c.1662-?_*(1_?)del
NM_000251.2(MSH2):c.1662-?_*(272_?)del
NM_000251.2(MSH2):c.1662-?_1759+?del
NM_000251.2(MSH2):c.1662-?_2458+?del
NM_000251.2(MSH2):c.1665del (p.Lys555fs) rs63751120
NM_000251.2(MSH2):c.1667_1668insA (p.Thr557fs) rs1553367587
NM_000251.2(MSH2):c.1667del (p.Lys555_Leu556insTer) rs267607694
NM_000251.2(MSH2):c.1667dup (p.Leu556fs) rs267607694
NM_000251.2(MSH2):c.166G>T (p.Glu56Ter) rs587779102
NM_000251.2(MSH2):c.166del (p.Glu56fs) rs63750087
NM_000251.2(MSH2):c.1676del (p.Ser558_Leu559insTer) rs63750633
NM_000251.2(MSH2):c.1681_1682dup (p.Glu562fs) rs1553367608
NM_000251.2(MSH2):c.1683del (p.Glu562fs) rs63750406
NM_000251.2(MSH2):c.1687dup (p.Tyr563fs) rs587779103
NM_000251.2(MSH2):c.1692_1693del (p.Lys565_Asn566insTer) rs1553367635
NM_000251.2(MSH2):c.1693A>T (p.Lys565Ter) rs587779104
NM_000251.2(MSH2):c.1696_1697del (p.Lys565_Asn566insTer) rs63750737
NM_000251.2(MSH2):c.1699A>T (p.Lys567Ter) rs63751149
NM_000251.2(MSH2):c.1700_1704del (p.Lys567fs) rs63750474
NM_000251.2(MSH2):c.1702dup (p.Thr568fs) rs587779105
NM_000251.2(MSH2):c.1705_1706del (p.Glu569fs) rs63750393
NM_000251.2(MSH2):c.1705_1706dup (p.Tyr570fs) rs63750393
NM_000251.2(MSH2):c.1705_1706insT (p.Glu569fs) rs587779106
NM_000251.2(MSH2):c.1708del (p.Tyr570fs) rs1131692279
NM_000251.2(MSH2):c.1717del (p.Ala573fs) rs267607974
NM_000251.2(MSH2):c.1720C>T (p.Gln574Ter) rs63751298
NM_000251.2(MSH2):c.1720del (p.Gln574fs) rs63751299
NM_000251.2(MSH2):c.1738G>T (p.Glu580Ter) rs63751411
NM_000251.2(MSH2):c.1759+1G>T
NM_000251.2(MSH2):c.1759+2T>A rs267607976
NM_000251.2(MSH2):c.1759G>C (p.Gly587Arg) rs63751140
NM_000251.2(MSH2):c.1760-?_*(272_?)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.1760delG (p.Gly587Alafs) rs63750103
NM_000251.2(MSH2):c.1764T>G (p.Tyr588Ter) rs63750844
NM_000251.2(MSH2):c.1771_1772insA (p.Pro591fs) rs267607977
NM_000251.2(MSH2):c.1777C>T (p.Gln593Ter) rs63750200
NM_000251.2(MSH2):c.1779_1782del (p.Gln593fs) rs63750113
NM_000251.2(MSH2):c.1781_1782insCT (p.Leu595fs) rs267607691
NM_000251.2(MSH2):c.1786_1788del (p.Asn596del) rs63749831
NM_000251.2(MSH2):c.1787dup (p.Asn596fs) rs587779111
NM_000251.2(MSH2):c.1788_1789del (p.Asn596fs) rs63750495
NM_000251.2(MSH2):c.1801C>T (p.Gln601Ter) rs63750047
NM_000251.2(MSH2):c.1809del (p.Asp603fs) rs63751129
NM_000251.2(MSH2):c.181C>T (p.Gln61Ter) rs63750951
NM_000251.2(MSH2):c.1827del (p.His610fs) rs587779112
NM_000251.2(MSH2):c.1835C>G (p.Ser612Ter) rs63750493
NM_000251.2(MSH2):c.1853del (p.Pro618fs) rs267607984
NM_000251.2(MSH2):c.1857T>G (p.Tyr619Ter) rs63750312
NM_000251.2(MSH2):c.1858_1859dup (p.Arg621fs) rs63750806
NM_000251.2(MSH2):c.1861C>T (p.Arg621Ter) rs63750508
NM_000251.2(MSH2):c.1865C>T (p.Pro622Leu) rs28929483
NM_000251.2(MSH2):c.186_187dup (p.Val63fs) rs63750160
NM_000251.2(MSH2):c.187del (p.Gly62_Val63insTer) rs63750160
NM_000251.2(MSH2):c.187dup (p.Val63fs) rs63750160
NM_000251.2(MSH2):c.1882G>T (p.Gly628Ter) rs371776176
NM_000251.2(MSH2):c.1885C>T (p.Gln629Ter) rs63750203
NM_000251.2(MSH2):c.1889_1892del (p.Gly630fs) rs63750960
NM_000251.2(MSH2):c.1897dup (p.Ile633fs) rs587779114
NM_000251.2(MSH2):c.1901T>G (p.Leu634Ter) rs1114167811
NM_000251.2(MSH2):c.1906G>C (p.Ala636Pro) rs63750875
NM_000251.2(MSH2):c.1911del (p.Arg638fs) rs63750893
NM_000251.2(MSH2):c.1915C>T (p.His639Tyr) rs28929484
NM_000251.2(MSH2):c.1922_1923GT[1] (p.Cys641_Val642insTer) rs587779117
NM_000251.2(MSH2):c.1963_1964del (p.Val655fs) rs864622121
NM_000251.2(MSH2):c.1967_1970dup (p.Phe657fs) rs587779118
NM_000251.2(MSH2):c.1968C>G (p.Tyr656Ter) rs63751317
NM_000251.2(MSH2):c.1980_1981del (p.Asp660fs) rs587779119
NM_000251.2(MSH2):c.1982_1985del (p.Lys661fs) rs587779120
NM_000251.2(MSH2):c.1984C>T (p.Gln662Ter) rs786204321
NM_000251.2(MSH2):c.1984_1985del (p.Gln662fs) rs587779121
NM_000251.2(MSH2):c.1986_1987del (p.Gln662fs) rs587779122
NM_000251.2(MSH2):c.1986del (p.Met663fs) rs63749929
NM_000251.2(MSH2):c.1996_1997del (p.Ile666fs) rs63751700
NM_000251.2(MSH2):c.2005+2T>C rs267607987
NM_000251.2(MSH2):c.2006-2A>G rs267607991
NM_000251.2(MSH2):c.2006-?_2210+?del
NM_000251.2(MSH2):c.2006G>T (p.Gly669Val) rs63751640
NM_000251.2(MSH2):c.2010del (p.Asn671fs) rs63751123
NM_000251.2(MSH2):c.2015del (p.Met672fs) rs63751161
NM_000251.2(MSH2):c.2021G>A (p.Gly674Asp) rs267607996
NM_000251.2(MSH2):c.2021_2022del (p.Gly674fs) rs267608000
NM_000251.2(MSH2):c.2031_2032AT[2] (p.Ile679fs) rs587779129
NM_000251.2(MSH2):c.2038C>T (p.Arg680Ter) rs63749932
NM_000251.2(MSH2):c.2041C>T (p.Gln681Ter) rs730881762
NM_000251.2(MSH2):c.2046_2047del (p.Val684fs) rs587779131
NM_000251.2(MSH2):c.2047G>A (p.Gly683Arg) rs267607995
NM_000251.2(MSH2):c.2048_2111dup (p.Ile704Metfs) rs1553369051
NM_000251.2(MSH2):c.204del (p.Pro69fs) rs63750199
NM_000251.2(MSH2):c.2063T>G (p.Met688Arg) rs63749993
NM_000251.2(MSH2):c.2071dup (p.Ile691fs) rs63749878
NM_000251.2(MSH2):c.2074_2081del (p.Gly692fs) rs587779135
NM_000251.2(MSH2):c.2082del (p.Phe694fs) rs63750689
NM_000251.2(MSH2):c.2083G>A (p.Val695Met) rs772491283
NM_000251.2(MSH2):c.2087C>T (p.Pro696Leu) rs267607994
NM_000251.2(MSH2):c.2089T>C (p.Cys697Arg) rs63750961
NM_000251.2(MSH2):c.2090G>T (p.Cys697Phe) rs63750398
NM_000251.2(MSH2):c.2091T>A (p.Cys697Ter) rs63750872
NM_000251.2(MSH2):c.2096C>G (p.Ser699Ter) rs587779136
NM_000251.2(MSH2):c.20del (p.Glu7fs) rs267607915
NM_000251.2(MSH2):c.2100del (p.Glu701fs) rs1553369113
NM_000251.2(MSH2):c.211+1G>T rs1114167883
NM_000251.2(MSH2):c.2113del (p.Val705fs) rs63749811
NM_000251.2(MSH2):c.212-1G>A rs267607914
NM_000251.2(MSH2):c.212-478T>G rs587779138
NM_000251.2(MSH2):c.212-?_1076+?del
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.2131C>T (p.Arg711Ter) rs63750636
NM_000251.2(MSH2):c.2135dup (p.Gly713fs) rs63751453
NM_000251.2(MSH2):c.2141dup (p.Gly715fs) rs63750545
NM_000251.2(MSH2):c.2145del (p.Asp716fs) rs1553369164
NM_000251.2(MSH2):c.2148del (p.Asp716fs) rs1553369165
NM_000251.2(MSH2):c.2150_2153del (p.Ser717fs) rs878853809
NM_000251.2(MSH2):c.2152C>T (p.Gln718Ter) rs587779139
NM_000251.2(MSH2):c.2160_2163del (p.Gly721fs) rs63750722
NM_000251.2(MSH2):c.2161G>T (p.Gly721Ter) rs1060502032
NM_000251.2(MSH2):c.2167dup (p.Ser723fs) rs587779140
NM_000251.2(MSH2):c.2191G>T (p.Glu731Ter) rs63749802
NM_000251.2(MSH2):c.21dup (p.Thr8fs) rs1553348668
NM_000251.2(MSH2):c.2204del (p.Ile735fs) rs63750572
NM_000251.2(MSH2):c.2211-2A>G rs267608001
NM_000251.2(MSH2):c.2211-2A>T rs267608001
NM_000251.2(MSH2):c.2211-?_2458+?del
NM_000251.2(MSH2):c.2228C>A (p.Ser743Ter) rs63751155
NM_000251.2(MSH2):c.2228C>G (p.Ser743Ter) rs63751155
NM_000251.2(MSH2):c.2228_2231del (p.Asp742_Ser743insTer) rs63751156
NM_000251.2(MSH2):c.2231T>G (p.Leu744Ter) rs63750403
NM_000251.2(MSH2):c.2237_2238insA (p.Ile747fs) rs1553369641
NM_000251.2(MSH2):c.223_224del (p.Leu75fs) rs63750712
NM_000251.2(MSH2):c.2240_2241del (p.Ile747fs) rs63751036
NM_000251.2(MSH2):c.2251G>A (p.Gly751Arg) rs63751119
NM_000251.2(MSH2):c.2261del (p.Thr754fs) rs267608009
NM_000251.2(MSH2):c.226C>T (p.Gln76Ter) rs63750042
NM_000251.2(MSH2):c.2275G>T (p.Gly759Ter) rs63749854
NM_000251.2(MSH2):c.2283del (p.Gly761_Leu762insTer) rs786204050
NM_000251.2(MSH2):c.2290del (p.Trp764fs) rs63749913
NM_000251.2(MSH2):c.2291G>A (p.Trp764Ter) rs587779143
NM_000251.2(MSH2):c.2292G>A (p.Trp764Ter) rs63751105
NM_000251.2(MSH2):c.2294del (p.Ala765fs) rs63750346
NM_000251.2(MSH2):c.2295del (p.Ile766fs) rs63751143
NM_000251.2(MSH2):c.229_230delAG rs63749848
NM_000251.2(MSH2):c.2305del (p.Tyr769fs) rs63750896
NM_000251.2(MSH2):c.2334C>A (p.Cys778Ter) rs63750618
NM_000251.2(MSH2):c.2335dup (p.Met779fs) rs63750149
NM_000251.2(MSH2):c.2347del (p.His783fs) rs63750233
NM_000251.2(MSH2):c.2360_2361dup (p.Thr788fs) rs63750803
NM_000251.2(MSH2):c.2361dup (p.Thr788fs) rs63750803
NM_000251.2(MSH2):c.2362dup (p.Thr788fs) rs63750463
NM_000251.2(MSH2):c.2388del (p.Val797fs) rs63749983
NM_000251.2(MSH2):c.2406_2407CA[1] (p.Thr803fs) rs63750060
NM_000251.2(MSH2):c.2418dup (p.Thr807fs) rs587779144
NM_000251.2(MSH2):c.2422G>T (p.Glu808Ter) rs34986638
NM_000251.2(MSH2):c.2425G>T (p.Glu809Ter) rs202145681
NM_000251.2(MSH2):c.2427dup (p.Thr810fs) rs63751079
NM_000251.2(MSH2):c.2432T>G (p.Leu811Ter) rs63751018
NM_000251.2(MSH2):c.243_273delinsCTGACAAGCGCCTATAGCACTCGAATAATTCTTCTCACCCTAACAGGTCAGCCTCGCTTCCCAGCCCTCACTAACATTAACGAAAACAACCCACCCACTAAACCCCATTAAACGCCTAACAATCGGAAGCCTATTTTGCAGGGTTTCTCCATCACCAACAGCATTCTCCCCACATCCACCCCCCAAATGACAATCCCACTTTACTTAAAACTCACAG (p.Lys82_Asp91delinsTer)
NM_000251.2(MSH2):c.2446C>T (p.Gln816Ter) rs63749917
NM_000251.2(MSH2):c.244A>T (p.Lys82Ter) rs587779145
NM_000251.2(MSH2):c.2459-?_*(272_?)del
NM_000251.2(MSH2):c.2459-?_2634+?del
NM_000251.2(MSH2):c.2459_2460GT[1] (p.Val821fs) rs1114167828
NM_000251.2(MSH2):c.2466_2467delTG rs63751621
NM_000251.2(MSH2):c.2470C>T (p.Gln824Ter) rs63750623
NM_000251.2(MSH2):c.2472_2473del (p.Ser825fs) rs1553370310
NM_000251.2(MSH2):c.2484dup (p.His829fs) rs1553370324
NM_000251.2(MSH2):c.2485_2498dup (p.Ala834fs) rs587779146
NM_000251.2(MSH2):c.2485del (p.His829fs) rs63751117
NM_000251.2(MSH2):c.2502_2508del (p.Asn835fs) rs63751447
NM_000251.2(MSH2):c.2507del (p.Phe836fs) rs63750008
NM_000251.2(MSH2):c.2521del (p.Val840_Ile841insTer) rs587779147
NM_000251.2(MSH2):c.2525_2526delAG rs587779148
NM_000251.2(MSH2):c.2527_2528TG[1] (p.Cys843_Ala844insTer) rs63749975
NM_000251.2(MSH2):c.2536C>T (p.Gln846Ter) rs63750857
NM_000251.2(MSH2):c.2545del (p.Leu849fs) rs587779149
NM_000251.2(MSH2):c.255_256del (p.Phe85fs) rs267607921
NM_000251.2(MSH2):c.255dup (p.Glu86Ter) rs63751158
NM_000251.2(MSH2):c.2575G>T (p.Glu859Ter) rs63749830
NM_000251.2(MSH2):c.2579C>A (p.Ser860Ter) rs63750849
NM_000251.2(MSH2):c.2581C>T (p.Gln861Ter) rs63750291
NM_000251.2(MSH2):c.2593_2597del (p.Ile865fs) rs587779151
NM_000251.2(MSH2):c.2620_2621ins115 (p.?)
NM_000251.2(MSH2):c.2622T>A (p.Tyr874Ter) rs587779152
NM_000251.2(MSH2):c.2633_2634delAG rs63751618
NM_000251.2(MSH2):c.2634+1G>A rs267608019
NM_000251.2(MSH2):c.2634+1G>T rs267608019
NM_000251.2(MSH2):c.2634+2T>C rs876660546
NM_000251.2(MSH2):c.2634+5G>C rs267608017
NM_000251.2(MSH2):c.2634G>A (p.Glu878=) rs63751624
NM_000251.2(MSH2):c.2635-?_*(272_?)del
NM_000251.2(MSH2):c.2635C>T (p.Gln879Ter) rs63751469
NM_000251.2(MSH2):c.263_264del (p.Phe88fs) rs267607920
NM_000251.2(MSH2):c.2647del (p.Ile883fs) rs63750084
NM_000251.2(MSH2):c.2647dup (p.Ile883fs) rs63750084
NM_000251.2(MSH2):c.264dup (p.Val89fs) rs267607920
NM_000251.2(MSH2):c.2653C>T (p.Gln885Ter) rs63750808
NM_000251.2(MSH2):c.2656G>T (p.Glu886Ter) rs1230083633
NM_000251.2(MSH2):c.2662del (p.Leu888fs) rs63751007
NM_000251.2(MSH2):c.269_290dup (p.Tyr98fs) rs1553350126
NM_000251.2(MSH2):c.278_279del (p.Leu93fs) rs63749872
NM_000251.2(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_000251.2(MSH2):c.28C>T (p.Gln10Ter) rs63751099
NM_000251.2(MSH2):c.29dup (p.Leu11fs) rs63750589
NM_000251.2(MSH2):c.301G>T (p.Glu101Ter) rs63750318
NM_000251.2(MSH2):c.301_306del (p.Glu101_Val102del) rs587779157
NM_000251.2(MSH2):c.340G>T (p.Glu114Ter) rs878853815
NM_000251.2(MSH2):c.344del (p.Asn115fs) rs63751195
NM_000251.2(MSH2):c.347_350del (p.Asp116fs) rs63750501
NM_000251.2(MSH2):c.34dup (p.Glu12fs) rs63750614
NM_000251.2(MSH2):c.352dup (p.Tyr118fs) rs587779159
NM_000251.2(MSH2):c.363T>G (p.Tyr121Ter) rs63750458
NM_000251.2(MSH2):c.366+1G>A rs267607924
NM_000251.2(MSH2):c.366+2T>C rs1558457533
NM_000251.2(MSH2):c.367-371_646-513del
NM_000251.2(MSH2):c.367-452_646-722del
NM_000251.2(MSH2):c.367-466_645+658del
NM_000251.2(MSH2):c.367-681_646-956del
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.368del (p.Ala123fs) rs63750210
NM_000251.2(MSH2):c.380_381del (p.Asn127fs) rs63751227
NM_000251.2(MSH2):c.387_388delTC rs63750924
NM_000251.2(MSH2):c.388C>T (p.Gln130Ter) rs1060501989
NM_000251.2(MSH2):c.388_389del (p.Gln130fs) rs63750704
NM_000251.2(MSH2):c.399del (p.Asp133fs) rs63751290
NM_000251.2(MSH2):c.408del (p.Phe136fs) rs63750408
NM_000251.2(MSH2):c.416del (p.Asn139fs) rs63750401
NM_000251.2(MSH2):c.425C>G (p.Ser142Ter) rs63750910
NM_000251.2(MSH2):c.454del (p.Met152fs) rs63751449
NM_000251.2(MSH2):c.472C>T (p.Gln158Ter) rs63751226
NM_000251.2(MSH2):c.475dup (p.Arg159fs) rs786204319
NM_000251.2(MSH2):c.478C>T (p.Gln160Ter) rs63751426
NM_000251.2(MSH2):c.482T>A (p.Val161Asp) rs63750126
NM_000251.2(MSH2):c.484G>A (p.Gly162Arg) rs63750624
NM_000251.2(MSH2):c.488T>A (p.Val163Asp) rs63750214
NM_000251.2(MSH2):c.488T>G (p.Val163Gly) rs63750214
NM_000251.2(MSH2):c.490G>A (p.Gly164Arg) rs63750582
NM_000251.2(MSH2):c.506_509del (p.Ile169fs) rs63751013
NM_000251.2(MSH2):c.508C>T (p.Gln170Ter) rs63750843
NM_000251.2(MSH2):c.510dup (p.Arg171fs) rs1553350787
NM_000251.2(MSH2):c.511_583dup (p.Gly195delinsGluGluThrArgThrValTer) rs1553350789
NM_000251.2(MSH2):c.513del (p.Lys172fs) rs63750933
NM_000251.2(MSH2):c.518T>G (p.Leu173Arg) rs63750070
NM_000251.2(MSH2):c.518del (p.Leu173fs) rs63750069
NM_000251.2(MSH2):c.528_529delTG rs587779164
NM_000251.2(MSH2):c.529G>T (p.Glu177Ter) rs63750382
NM_000251.2(MSH2):c.530_531del (p.Glu177fs) rs63750551
NM_000251.2(MSH2):c.547C>T (p.Gln183Ter) rs63750037
NM_000251.2(MSH2):c.551del (p.Phe184fs) rs267607928
NM_000251.2(MSH2):c.560T>C (p.Leu187Pro) rs63751444
NM_000251.2(MSH2):c.560T>G (p.Leu187Arg) rs63751444
NM_000251.2(MSH2):c.561_569del (p.Glu188_Leu190del) rs63750088
NM_000251.2(MSH2):c.571_573delCTC rs587779165
NM_000251.2(MSH2):c.577C>T (p.Gln193Ter) rs63751326
NM_000251.2(MSH2):c.587del (p.Pro196fs) rs63750682
NM_000251.2(MSH2):c.592dup (p.Glu198fs) rs63750786
NM_000251.2(MSH2):c.595T>C (p.Cys199Arg) rs63751110
NM_000251.2(MSH2):c.599T>A (p.Val200Asp) rs587779167
NM_000251.2(MSH2):c.610G>T (p.Gly204Ter) rs63750574
NM_000251.2(MSH2):c.611_612GA[5] (p.Thr206fs) rs1553350946
NM_000251.2(MSH2):c.613G>T (p.Glu205Ter) rs63749984
NM_000251.2(MSH2):c.616dup (p.Thr206fs) rs63750995
NM_000251.2(MSH2):c.638_639del (p.Leu213fs) rs63751622
NM_000251.2(MSH2):c.642_645delACAG (p.Gln215Terfs) rs63751695
NM_000251.2(MSH2):c.643C>T (p.Gln215Ter) rs63751274
NM_000251.2(MSH2):c.644del (p.Gln215fs) rs1558459885
NM_000251.2(MSH2):c.645+1G>A rs267607689
NM_000251.2(MSH2):c.645+2T>C rs876658996
NM_000251.2(MSH2):c.646-3T>G rs267607930
NM_000251.2(MSH2):c.646-?_*(272_?)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.650_654del (p.Ile217fs) rs63751602
NM_000251.2(MSH2):c.652C>T (p.Gln218Ter) rs587779170
NM_000251.2(MSH2):c.675_679delinsTAAT (p.Glu226fs) rs587779172
NM_000251.2(MSH2):c.685A>T (p.Lys229Ter) rs587779173
NM_000251.2(MSH2):c.687_688insT (p.Ala230fs) rs63750364
NM_000251.2(MSH2):c.687del (p.Ala230fs) rs63749897
NM_000251.2(MSH2):c.687dup (p.Ala230fs) rs63749897
NM_000251.2(MSH2):c.691del (p.Asp231fs) rs587779174
NM_000251.2(MSH2):c.696_697del (p.Ser233fs) rs63750426
NM_000251.2(MSH2):c.704_705del (p.Lys235fs) rs281864944
NM_000251.2(MSH2):c.705del (p.Asp236fs) rs281864944
NM_000251.2(MSH2):c.711_714del (p.Tyr238fs) rs63751288
NM_000251.2(MSH2):c.715C>T (p.Gln239Ter) rs63750488
NM_000251.2(MSH2):c.717_721delinsTTA (p.Gln239fs) rs63750690
NM_000251.2(MSH2):c.71dup (p.Met26fs) rs587779175
NM_000251.2(MSH2):c.725dup (p.Asn242fs) rs587779176
NM_000251.2(MSH2):c.735dup (p.Lys246fs) rs63750107
NM_000251.2(MSH2):c.736A>T (p.Lys246Ter) rs63750881
NM_000251.2(MSH2):c.73_74insC (p.Gly25fs) rs587779177
NM_000251.2(MSH2):c.746del (p.Lys249fs) rs63749832
NM_000251.2(MSH2):c.754C>T (p.Gln252Ter) rs63750347
NM_000251.2(MSH2):c.759_762del (p.Met253fs) rs267607931
NM_000251.2(MSH2):c.759del (p.Met253fs) rs63751160
NM_000251.2(MSH2):c.761del (p.Asn254fs) rs587779179
NM_000251.2(MSH2):c.763_766delinsTT (p.Ser255fs) rs63750329
NM_000251.2(MSH2):c.767_768dup (p.Val257fs) rs587779181
NM_000251.2(MSH2):c.782_783insA (p.Met261fs) rs786204144
NM_000251.2(MSH2):c.788_789del (p.Asn263fs) rs63751614
NM_000251.2(MSH2):c.792+10_943-448del
NM_000251.2(MSH2):c.792+1G>A rs267607934
NM_000251.2(MSH2):c.793-2A>C rs267607933
NM_000251.2(MSH2):c.793-6_942+450del rs1553352366
NM_000251.2(MSH2):c.793-?_1076+?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.795del (p.Ala266fs) rs63749902
NM_000251.2(MSH2):c.810_811del (p.Ser271fs) rs63751133
NM_000251.2(MSH2):c.811_814del (p.Ser271fs) rs587779185
NM_000251.2(MSH2):c.819_821delinsTG (p.Ile274fs) rs864622261
NM_000251.2(MSH2):c.82G>T (p.Glu28Ter) rs63751246
NM_000251.2(MSH2):c.82del (p.Glu28fs) rs587779188
NM_000251.2(MSH2):c.830T>A (p.Leu277Ter) rs786203424
NM_000251.2(MSH2):c.836del (p.Leu279fs) rs63751159
NM_000251.2(MSH2):c.839dup (p.Leu280fs) rs63750091
NM_000251.2(MSH2):c.842C>A (p.Ser281Ter) rs63749991
NM_000251.2(MSH2):c.842C>G (p.Ser281Ter) rs63749991
NM_000251.2(MSH2):c.854del (p.Asn285fs) rs63750701
NM_000251.2(MSH2):c.859G>T (p.Gly287Ter) rs63750276
NM_000251.2(MSH2):c.85A>T (p.Lys29Ter) rs1060502001
NM_000251.2(MSH2):c.860dup (p.Gln288fs) rs193922375
NM_000251.2(MSH2):c.862C>T (p.Gln288Ter) rs63750097
NM_000251.2(MSH2):c.863del (p.Gln288fs) rs587779189
NM_000251.2(MSH2):c.868G>T (p.Glu290Ter) rs587779190
NM_000251.2(MSH2):c.873_876del (p.Thr292fs) rs587779191
NM_000251.2(MSH2):c.881_882del (p.Thr293_Phe294insTer) rs63751115
NM_000251.2(MSH2):c.888del (p.Phe296fs) rs587779192
NM_000251.2(MSH2):c.892C>T (p.Gln298Ter) rs63750934
NM_000251.2(MSH2):c.896_897AT[3] (p.Met300fs) rs63750885
NM_000251.2(MSH2):c.901A>T (p.Lys301Ter) rs63749915
NM_000251.2(MSH2):c.905T>A (p.Leu302Ter) rs63749914
NM_000251.2(MSH2):c.912dup (p.Ala305fs) rs863224833
NM_000251.2(MSH2):c.915_922dup (p.Arg308fs) rs63750046
NM_000251.2(MSH2):c.929T>C (p.Leu310Pro) rs63750640
NM_000251.2(MSH2):c.929T>G (p.Leu310Arg) rs63750640
NM_000251.2(MSH2):c.942+3A>T rs193922376
NM_000251.2(MSH2):c.942G>A (p.Gln314=) rs587779197
NM_000251.2(MSH2):c.943-2A>G rs587779198
NM_000251.2(MSH2):c.943-?_1076+?del
NM_000251.2(MSH2):c.94_103del (p.Thr32fs) rs63750728
NM_000251.2(MSH2):c.958dup (p.Thr320fs) rs63749852
NM_000251.2(MSH2):c.970C>T (p.Gln324Ter) rs63750502
NM_000251.2(MSH2):c.970_971del (p.Gln324fs) rs63751044
NM_000251.2(MSH2):c.970_971ins4
NM_000251.2(MSH2):c.973dup (p.Ser325fs) rs63749945
NM_000251.2(MSH2):c.989T>C (p.Leu330Pro) rs63750630
NM_000251.2(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000251.2:c.1-?_1076+?dup
NM_000251.2:c.1760-?_2802+?del
NM_000251.2:c.1760-?_2805+?del
NM_000251.2:c.904-?_1386+?del
NM_000321.2(RB1):c.607+1G>A rs587776789
NM_000535.5(PMS2):c.(?_-87)_(*160_?)del
NM_000535.5(PMS2):c.1145-1350_*20545del
NM_000535.5(PMS2):c.164-518_803+252delinsCG
NM_000535.5(PMS2):c.804-60_804-59insJN866832.1
NM_000535.5:c.(1144+1_1145-1)_(2174+1_2715-1)dup
NM_000535.6(PMS2):c.(?_-87)_1144+?del
NM_000535.6(PMS2):c.(?_-87)_23+?del
NM_000535.6(PMS2):c.(?_989)-5_(2445_?)+5del
NM_000535.6(PMS2):c.-87_537+?del
NM_000535.6(PMS2):c.1145-?_2174+?del
NM_000535.6(PMS2):c.1145-?_2445+?del
NM_000535.6(PMS2):c.1169_1170ins20 (p.?)
NM_000535.6(PMS2):c.164-?_2006+?del
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-?_*(160_?)del
NM_000535.6(PMS2):c.354-?_803+?del
NM_000535.6(PMS2):c.538-?_903+?del
NM_000535.6(PMS2):c.706-?_803+?del
NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)
NM_000535.6(PMS2):c.804-?_2006+?del
NM_000535.6(PMS2):c.804-?_903+?del
NM_000535.6(PMS2):c.904-?_*(160_?)del
NM_000535.6(PMS2):c.904-?_1144+?del
NM_000535.6(PMS2):c.904-?_988+?del
NM_000535.6(PMS2):c.989-?_*(160_?)del
NM_000535.6(PMS2):c.989-?_1144+?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.1144+2T>A rs267608158
NM_000535.7(PMS2):c.1185del (p.Met396fs) rs786204104
NM_000535.7(PMS2):c.121G>T (p.Glu41Ter) rs3209663
NM_000535.7(PMS2):c.1221del (p.Thr408fs) rs587776715
NM_000535.7(PMS2):c.1237_1239del (p.Lys413del) rs267608159
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617
NM_000535.7(PMS2):c.1275_1279del (p.Leu426fs) rs1554297962
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter) rs863224496
NM_000535.7(PMS2):c.129del (p.Glu44fs) rs1060503148
NM_000535.7(PMS2):c.1306dup (p.Ser436fs) rs63750106
NM_000535.7(PMS2):c.1376C>A (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1500del (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1576del (p.Asp526fs) rs863224497
NM_000535.7(PMS2):c.1591G>T (p.Glu531Ter) rs878854037
NM_000535.7(PMS2):c.1730dup (p.Arg578fs) rs587779330
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1750dup (p.Ile584fs) rs864622600
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.1874del (p.Ser624_Leu625insTer) rs786203073
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter) rs1060503138
NM_000535.7(PMS2):c.1912C>T (p.Gln638Ter) rs764342199
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2174+1G>A rs267608172
NM_000535.7(PMS2):c.217_218TG[3] (p.Gly74fs) rs587779336
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2184del (p.Leu729fs) rs1554294505
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter) rs1554294448
NM_000535.7(PMS2):c.2239_2242AGAA[1] (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.2404C>T (p.Arg802Ter) rs63751466
NM_000535.7(PMS2):c.2446_2589del (p.Val816_Ter863del) rs1554292684
NM_000535.7(PMS2):c.2458dup (p.Thr820fs) rs1554292880
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.325dup (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871
NM_000535.7(PMS2):c.538-1G>C rs988423880
NM_000535.7(PMS2):c.538-2A>G rs758304323
NM_000535.7(PMS2):c.538-478_705+456del
NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer) rs63751029
NM_000535.7(PMS2):c.593dup (p.Arg199fs) rs267608148
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.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.779_780delinsAG (p.Ser260Ter) rs730881920
NM_000535.7(PMS2):c.780del (p.Asp261fs) rs587779344
NM_000535.7(PMS2):c.802dup (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.846del (p.Ser283fs) rs1057515571
NM_000535.7(PMS2):c.853_856ACAG[2] (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.859dup (p.Arg287fs) rs1554300763
NM_000535.7(PMS2):c.862_863del (p.Gln288fs) rs63750246
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter) rs143277125
NM_000535.7(PMS2):c.989-296_1144+706del
NM_001040108.1(MLH3):c.2221G>T (p.Val741Phe) rs28756990
NM_001040108.1(MLH3):c.3826T>C (p.Trp1276Arg) rs121908439
NM_001040108.1(MLH3):c.885del (p.His296fs) rs1431264077
NM_001167617.2(MLH1):c.383+1del rs267607779
NM_001258281.1(MSH2):c.-30-28_-30-15del rs863224481
NM_001258281.1(MSH2):c.-30-82_-30-79del rs1060502000
NM_001258281.1(MSH2):c.1080_1188+1del rs1553361141
NM_001258281.1(MSH2):c.15_168+1del rs1553350052
NM_001258281.1(MSH2):c.448-1_450del rs1553351549
NM_001258281.1:c.595-?_2607+?del
NM_001354621.1(MLH1):c.-139-2804_-139-2801del rs267607799
NM_002354.2(EPCAM):c.133C>T (p.Gln45Ter) rs878854485
NM_002354.2(EPCAM):c.523C>T (p.Gln175Ter) rs878854491
NM_002354.2(EPCAM):c.556-14A>G rs376155665
NM_002354.2(EPCAM):c.859-1462_*1999del
NM_002354.2(EPCAM):c.859-?_*415del
NM_002354.2(EPCAM):c.904-?_945+?del
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) rs104893815
NM_003242.6(TGFBR2):c.1597_1598TG[4] (p.Ala535fs) rs587776769
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NR_030286.1(MIR559):n.278_23134del
nsv513794

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