ClinVar Miner

List of variants studied for Lynch syndrome by Invitae

Included ClinVar conditions (18):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 632
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HGVS dbSNP
NC_000002.11:g.(?_47596287)_(47596720_?)dup
NC_000002.11:g.(?_47596287)_(47604216_?)dup
NC_000002.11:g.(?_47596287)_(47614167_?)del
NC_000002.11:g.(?_47596287)_(47614167_?)dup
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.(?_47698104)_(47710367_?)dup
NC_000002.11:g.(?_47709918)_(47710088_?)del
NC_000002.11:g.(?_48010221)_(48010632_?)dup
NC_000002.11:g.(?_48010221)_(48032166_?)dup
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_000003.11:g.(?_37053311)_(37059090_?)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.(?_-1)_457+?del
NM_000179.2(MSH6):c.-152-?_4001+?dup
NM_000179.2(MSH6):c.-2G>T rs374748889
NM_000179.2(MSH6):c.1030C>G (p.Gln344Glu) rs730881815
NM_000179.2(MSH6):c.1034A>G (p.Asn345Ser) rs864622377
NM_000179.2(MSH6):c.1094G>C (p.Trp365Ser) rs587780558
NM_000179.2(MSH6):c.1134A>C (p.Arg378Ser) rs878853700
NM_000179.2(MSH6):c.1163A>C (p.His388Pro) rs786201185
NM_000179.2(MSH6):c.1189T>C (p.Tyr397His) rs587779913
NM_000179.2(MSH6):c.118G>T (p.Ala40Ser) rs754231971
NM_000179.2(MSH6):c.1196C>T (p.Pro399Leu) rs878853701
NM_000179.2(MSH6):c.1238G>C (p.Trp413Ser) rs786201049
NM_000179.2(MSH6):c.1255C>G (p.Gln419Glu) rs762814792
NM_000179.2(MSH6):c.1270G>A (p.Val424Ile) rs768299607
NM_000179.2(MSH6):c.1295_1296insAA (p.Phe432fs) rs1060502946
NM_000179.2(MSH6):c.1296T>G (p.Phe432Leu) rs863224614
NM_000179.2(MSH6):c.1333_1334del (p.Val444_Ser445insTer) rs1060502940
NM_000179.2(MSH6):c.1359A>G (p.Lys453=) rs864622147
NM_000179.2(MSH6):c.1367G>A (p.Trp456Ter) rs587780538
NM_000179.2(MSH6):c.1417C>G (p.Leu473Val) rs1060502924
NM_000179.2(MSH6):c.1447G>C (p.Val483Leu) rs786204084
NM_000179.2(MSH6):c.1450G>A (p.Glu484Lys) rs587782706
NM_000179.2(MSH6):c.1480G>T (p.Ala494Ser) rs758699749
NM_000179.2(MSH6):c.1529G>A (p.Arg510Lys) rs864622572
NM_000179.2(MSH6):c.1535A>G (p.Glu512Gly) rs1060502930
NM_000179.2(MSH6):c.155A>T (p.Glu52Val) rs878853707
NM_000179.2(MSH6):c.1564C>A (p.Gln522Lys) rs878853708
NM_000179.2(MSH6):c.1570_1571insC (p.Tyr524fs) rs878853709
NM_000179.2(MSH6):c.1576G>A (p.Val526Met) rs1060502899
NM_000179.2(MSH6):c.1581G>A (p.Leu527=) rs775618855
NM_000179.2(MSH6):c.1678T>C (p.Phe560Leu) rs863224617
NM_000179.2(MSH6):c.1708A>G (p.Ile570Val) rs61748081
NM_000179.2(MSH6):c.1723G>T (p.Asp575Tyr) rs863224619
NM_000179.2(MSH6):c.1746dup (p.Arg583Ter) rs863224474
NM_000179.2(MSH6):c.1760C>T (p.Ala587Val) rs1060502907
NM_000179.2(MSH6):c.1769C>T (p.Pro590Leu) rs587782635
NM_000179.2(MSH6):c.1794dup (p.Gly599fs) rs587780670
NM_000179.2(MSH6):c.1805C>A (p.Ser602Ter) rs730881816
NM_000179.2(MSH6):c.1842del (p.Cys615fs) rs730881825
NM_000179.2(MSH6):c.185G>A (p.Arg62His) rs867979237
NM_000179.2(MSH6):c.1868C>T (p.Pro623Leu) rs63750462
NM_000179.2(MSH6):c.1878G>C (p.Gln626His) rs767285340
NM_000179.2(MSH6):c.1914T>G (p.Leu638=) rs766310490
NM_000179.2(MSH6):c.2018C>T (p.Pro673Leu) rs864622085
NM_000179.2(MSH6):c.203A>G (p.Lys68Arg) rs863224620
NM_000179.2(MSH6):c.2089del (p.Asp697fs) rs863224475
NM_000179.2(MSH6):c.2137del (p.Asp713fs) rs864622257
NM_000179.2(MSH6):c.2161A>G (p.Arg721Gly) rs537604099
NM_000179.2(MSH6):c.2189A>G (p.Tyr730Cys) rs587782900
NM_000179.2(MSH6):c.2200G>A (p.Val734Met) rs587780671
NM_000179.2(MSH6):c.2225A>C (p.Asn742Thr) rs878853715
NM_000179.2(MSH6):c.2225A>G (p.Asn742Ser) rs878853715
NM_000179.2(MSH6):c.2246G>A (p.Gly749Glu) rs1060502916
NM_000179.2(MSH6):c.2294dup (p.Cys765fs) rs1553413673
NM_000179.2(MSH6):c.2297A>G (p.His766Arg) rs1060502870
NM_000179.2(MSH6):c.2312A>T (p.Lys771Met) rs864622586
NM_000179.2(MSH6):c.2318T>C (p.Leu773Pro) rs863224623
NM_000179.2(MSH6):c.233G>A (p.Arg78Lys) rs864622425
NM_000179.2(MSH6):c.2360C>G (p.Ala787Gly) rs63750637
NM_000179.2(MSH6):c.2387A>G (p.Glu796Gly) rs532445704
NM_000179.2(MSH6):c.2518A>C (p.Ser840Arg) rs863224624
NM_000179.2(MSH6):c.2562G>C (p.Lys854Asn) rs759048538
NM_000179.2(MSH6):c.2569G>A (p.Asp857Asn) rs368437140
NM_000179.2(MSH6):c.2597A>T (p.Lys866Ile) rs190075874
NM_000179.2(MSH6):c.261-3237_3735del
NM_000179.2(MSH6):c.2630A>G (p.Glu877Gly) rs1060502873
NM_000179.2(MSH6):c.2645_2653del (p.Phe882_Lys885delinsTer) rs876660630
NM_000179.2(MSH6):c.2670C>A (p.Val890=) rs863224625
NM_000179.2(MSH6):c.2677C>A (p.Leu893Met) rs370754319
NM_000179.2(MSH6):c.2680C>T (p.Gln894Ter) rs878853718
NM_000179.2(MSH6):c.2701C>T (p.Arg901Cys) rs772514245
NM_000179.2(MSH6):c.2708C>T (p.Pro903Leu) rs1060502919
NM_000179.2(MSH6):c.2734T>C (p.Trp912Arg) rs1060502869
NM_000179.2(MSH6):c.2744C>A (p.Ala915Asp) rs766427609
NM_000179.2(MSH6):c.2777T>C (p.Leu926Pro) rs1060502948
NM_000179.2(MSH6):c.2788A>G (p.Lys930Glu) rs878853719
NM_000179.2(MSH6):c.2789A>G (p.Lys930Arg) rs878853720
NM_000179.2(MSH6):c.2857G>C (p.Glu953Gln) rs753034685
NM_000179.2(MSH6):c.2901A>C (p.Ile967=) rs863224330
NM_000179.2(MSH6):c.2906A>T (p.Tyr969Phe) rs63749919
NM_000179.2(MSH6):c.2910G>C (p.Trp970Cys) rs765411990
NM_000179.2(MSH6):c.2963G>C (p.Arg988Pro) rs115386788
NM_000179.2(MSH6):c.2983G>A (p.Glu995Lys) rs63750258
NM_000179.2(MSH6):c.3024C>G (p.Thr1008=) rs587780675
NM_000179.2(MSH6):c.3049A>C (p.Asn1017His) rs1060502943
NM_000179.2(MSH6):c.3079G>A (p.Val1027Ile) rs876658397
NM_000179.2(MSH6):c.3142C>G (p.Gln1048Glu) rs200492211
NM_000179.2(MSH6):c.3149del (p.Ala1050fs) rs1060502882
NM_000179.2(MSH6):c.315G>T (p.Trp105Cys) rs1060502902
NM_000179.2(MSH6):c.3173-3C>G rs1060502944
NM_000179.2(MSH6):c.3188T>G (p.Leu1063Arg) rs1060502901
NM_000179.2(MSH6):c.3205G>A (p.Gly1069Arg) rs764113705
NM_000179.2(MSH6):c.320C>T (p.Pro107Leu) rs878853732
NM_000179.2(MSH6):c.3221T>C (p.Met1074Thr) rs1060502927
NM_000179.2(MSH6):c.3271C>G (p.Leu1091Val) rs1060502914
NM_000179.2(MSH6):c.3272T>G (p.Leu1091Arg) rs864622637
NM_000179.2(MSH6):c.3314G>T (p.Gly1105Val) rs1060502910
NM_000179.2(MSH6):c.335A>C (p.Asn112Thr) rs587779934
NM_000179.2(MSH6):c.3379G>A (p.Ala1127Thr) rs1060502880
NM_000179.2(MSH6):c.341C>G (p.Pro114Arg) rs863224626
NM_000179.2(MSH6):c.3431T>G (p.Met1144Arg) rs864622607
NM_000179.2(MSH6):c.3435del (p.Arg1145fs) rs863224476
NM_000179.2(MSH6):c.3438+17G>C rs759737239
NM_000179.2(MSH6):c.3439-16C>T rs192614006
NM_000179.2(MSH6):c.3439-8A>G rs863224332
NM_000179.2(MSH6):c.3445T>A (p.Leu1149Ile) rs878853735
NM_000179.2(MSH6):c.346G>A (p.Asp116Asn) rs1060502871
NM_000179.2(MSH6):c.3515G>C (p.Arg1172Thr) rs864622217
NM_000179.2(MSH6):c.3526A>T (p.Arg1176Ter) rs786203968
NM_000179.2(MSH6):c.3529C>G (p.Leu1177Val) rs748398941
NM_000179.2(MSH6):c.356T>G (p.Phe119Cys) rs1060502893
NM_000179.2(MSH6):c.3619C>T (p.His1207Tyr) rs760391254
NM_000179.2(MSH6):c.3635T>C (p.Val1212Ala) rs1060502896
NM_000179.2(MSH6):c.3652G>C (p.Gly1218Arg) rs776407427
NM_000179.2(MSH6):c.3685A>C (p.Asn1229His) rs774249402
NM_000179.2(MSH6):c.3690del (p.Val1231fs) rs730881829
NM_000179.2(MSH6):c.3711G>C (p.Glu1237Asp) rs754289472
NM_000179.2(MSH6):c.3717_3721dup (p.Cys1241Ter) rs878853736
NM_000179.2(MSH6):c.3725G>A (p.Arg1242His) rs63750119
NM_000179.2(MSH6):c.3728C>A (p.Thr1243Lys) rs878853737
NM_000179.2(MSH6):c.3811G>A (p.Val1271Ile) rs770929545
NM_000179.2(MSH6):c.3844A>C (p.Thr1282Pro) rs764507968
NM_000179.2(MSH6):c.3850_3857dup (p.Tyr1287fs) rs1553333432
NM_000179.2(MSH6):c.3864dup (p.Phe1289fs) rs878853739
NM_000179.2(MSH6):c.3867C>G (p.Phe1289Leu) rs878853740
NM_000179.2(MSH6):c.3969_4001+52dup rs1553333718
NM_000179.2(MSH6):c.3973A>T (p.Lys1325Ter) rs1060502937
NM_000179.2(MSH6):c.3994T>A (p.Leu1332Ile) rs786204160
NM_000179.2(MSH6):c.4001+11_4001+35del rs878853743
NM_000179.2(MSH6):c.4002-22_4002-10delinsAAGGG rs878853744
NM_000179.2(MSH6):c.4002-8del rs267608139
NM_000179.2(MSH6):c.4002-9_4002-7del rs864622105
NM_000179.2(MSH6):c.4024_4044del (p.Arg1342_Glu1348del) rs1064792973
NM_000179.2(MSH6):c.4034_4042del (p.Val1345_Ala1347del) rs864622703
NM_000179.2(MSH6):c.4081dup (p.Ter1361LeuextTer?) rs1060502898
NM_000179.2(MSH6):c.448C>T (p.Pro150Ser) rs587782406
NM_000179.2(MSH6):c.457+2dup rs876661224
NM_000179.2(MSH6):c.457+3A>G rs1060502921
NM_000179.2(MSH6):c.457G>A (p.Gly153Ser) rs1060502885
NM_000179.2(MSH6):c.458-5del rs587781955
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.470A>T (p.Lys157Met) rs1060502923
NM_000179.2(MSH6):c.521G>A (p.Arg174Lys) rs863224629
NM_000179.2(MSH6):c.524C>G (p.Ala175Gly) rs1060502929
NM_000179.2(MSH6):c.670G>A (p.Glu224Lys) rs1060502933
NM_000179.2(MSH6):c.680G>T (p.Ser227Ile) rs587779317
NM_000179.2(MSH6):c.68C>G (p.Ala23Gly) rs1060502912
NM_000179.2(MSH6):c.722G>A (p.Ser241Asn) rs1060502906
NM_000179.2(MSH6):c.725G>C (p.Ser242Thr) rs1060502925
NM_000179.2(MSH6):c.751A>T (p.Ile251Leu) rs554884560
NM_000179.2(MSH6):c.782C>T (p.Ser261Phe) rs876661250
NM_000179.2(MSH6):c.816A>C (p.Glu272Asp) rs863224631
NM_000179.2(MSH6):c.842G>A (p.Gly281Glu) rs773445382
NM_000179.2(MSH6):c.867C>T (p.Gly289=) rs267608047
NM_000179.2(MSH6):c.938A>G (p.Lys313Arg) rs753373644
NM_000179.2(MSH6):c.958C>T (p.Pro320Ser) rs754879198
NM_000179.2(MSH6):c.983G>C (p.Ser328Thr) rs1060502879
NM_000179.2(MSH6):c.989C>A (p.Ser330Ter) rs786202848
NM_000179.2(MSH6):c.998C>G (p.Thr333Ser) rs587781983
NM_000179.2(MSH6):c.999del (p.Lys334fs) rs1060502932
NM_000249.3(MLH1):c.(?_-198)_116+?del
NM_000249.3(MLH1):c.(?_-198)_1558+?del
NM_000249.3(MLH1):c.-269C>G rs35032294
NM_000249.3(MLH1):c.-27C>T rs587779001
NM_000249.3(MLH1):c.-28A>G rs56198082
NM_000249.3(MLH1):c.-7C>T rs104894994
NM_000249.3(MLH1):c.1026G>A (p.Met342Ile) rs1060500704
NM_000249.3(MLH1):c.1038+51C>T rs55986674
NM_000249.3(MLH1):c.1039-10_1039-8dup rs57509953
NM_000249.3(MLH1):c.1039-2A>C rs267607815
NM_000249.3(MLH1):c.1039-8_1039-7insTTTTAA rs535965616
NM_000249.3(MLH1):c.1039-?_1409+?del
NM_000249.3(MLH1):c.1078G>T (p.Val360Phe) rs878853775
NM_000249.3(MLH1):c.1090A>G (p.Thr364Ala) rs63749864
NM_000249.3(MLH1):c.1111A>T (p.Thr371Ser) rs762426947
NM_000249.3(MLH1):c.111G>T (p.Glu37Asp) rs864622485
NM_000249.3(MLH1):c.112A>C (p.Asn38His) rs63750580
NM_000249.3(MLH1):c.1146G>C (p.Gln382His) rs876658801
NM_000249.3(MLH1):c.1171C>T (p.Gln391Ter) rs587778894
NM_000249.3(MLH1):c.1175A>G (p.Lys392Arg) rs587780678
NM_000249.3(MLH1):c.1232T>G (p.Ile411Ser) rs786201951
NM_000249.3(MLH1):c.1297G>C (p.Glu433Gln) rs63750443
NM_000249.3(MLH1):c.12G>A (p.Val4=) rs864622700
NM_000249.3(MLH1):c.1318G>A (p.Val440Met) rs864622250
NM_000249.3(MLH1):c.133A>G (p.Thr45Ala) rs876658416
NM_000249.3(MLH1):c.1344_1349del (p.Glu448_Gly449del) rs1060500705
NM_000249.3(MLH1):c.1351A>G (p.Thr451Ala) rs864622145
NM_000249.3(MLH1):c.1410-?_1558+?del
NM_000249.3(MLH1):c.1441del (p.Met481fs) rs878853777
NM_000249.3(MLH1):c.1450G>T (p.Asp484Tyr) rs730881741
NM_000249.3(MLH1):c.1460G>T (p.Arg487Leu) rs587778917
NM_000249.3(MLH1):c.1470G>C (p.Met490Ile) rs1060500708
NM_000249.3(MLH1):c.1521G>C (p.Leu507Phe) rs863224633
NM_000249.3(MLH1):c.1559-2A>G rs267607836
NM_000249.3(MLH1):c.1559-?_1667+?del
NM_000249.3(MLH1):c.1624C>T (p.Gln542Ter) rs63750192
NM_000249.3(MLH1):c.1636A>G (p.Lys546Glu) rs1046979393
NM_000249.3(MLH1):c.1667+2T>C rs878853780
NM_000249.3(MLH1):c.1667+2_1667+8delinsATTT rs587778938
NM_000249.3(MLH1):c.1731+5G>A rs267607850
NM_000249.3(MLH1):c.1732-19T>A rs77120160
NM_000249.3(MLH1):c.1732-?_(*193_?)del
NM_000249.3(MLH1):c.1732-?_*193dup733
NM_000249.3(MLH1):c.1738G>C (p.Ala580Pro) rs864622530
NM_000249.3(MLH1):c.1763T>C (p.Leu588Pro) rs63750575
NM_000249.3(MLH1):c.1790G>A (p.Trp597Ter) rs63750604
NM_000249.3(MLH1):c.1865T>C (p.Leu622Pro) rs63750693
NM_000249.3(MLH1):c.1906C>G (p.Leu636Val) rs864622673
NM_000249.3(MLH1):c.1912G>T (p.Gly638Ter) rs63750549
NM_000249.3(MLH1):c.1937A>C (p.Tyr646Ser) rs35045067
NM_000249.3(MLH1):c.194G>A (p.Gly65Asp) rs63751465
NM_000249.3(MLH1):c.194G>T (p.Gly65Val) rs63751465
NM_000249.3(MLH1):c.2024G>T (p.Ser675Ile) rs781637991
NM_000249.3(MLH1):c.2030G>A (p.Ser677Asn) rs587778970
NM_000249.3(MLH1):c.2045T>C (p.Met682Thr) rs1060500693
NM_000249.3(MLH1):c.2065C>A (p.Gln689Lys) rs41542214
NM_000249.3(MLH1):c.208-?_306+?del
NM_000249.3(MLH1):c.208-?_545+?del
NM_000249.3(MLH1):c.2111T>G (p.Val704Gly) rs587780682
NM_000249.3(MLH1):c.2135G>T (p.Trp712Leu) rs63750561
NM_000249.3(MLH1):c.2136del (p.Ser711_Trp712insTer) rs1060500706
NM_000249.3(MLH1):c.2138A>C (p.Lys713Thr) rs878853786
NM_000249.3(MLH1):c.2177C>G (p.Ser726Ter) rs864622457
NM_000249.3(MLH1):c.218T>G (p.Leu73Arg) rs397514684
NM_000249.3(MLH1):c.223A>T (p.Ile75Phe) rs1060500701
NM_000249.3(MLH1):c.2260G>A (p.Glu754Lys) rs864622445
NM_000249.3(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.3(MLH1):c.306+6C>T rs746641892
NM_000249.3(MLH1):c.307-?_380+?del
NM_000249.3(MLH1):c.330G>A (p.Val110=) rs863224340
NM_000249.3(MLH1):c.440G>C (p.Gly147Ala) rs1060500702
NM_000249.3(MLH1):c.454-?_1409+?dup
NM_000249.3(MLH1):c.454-?_545+?del
NM_000249.3(MLH1):c.545+1G>A rs267607765
NM_000249.3(MLH1):c.557A>C (p.His186Pro) rs1060500712
NM_000249.3(MLH1):c.677+1G>T rs267607778
NM_000249.3(MLH1):c.699T>A (p.Cys233Ter) rs764085979
NM_000249.3(MLH1):c.736A>T (p.Ile246Leu) rs750253749
NM_000249.3(MLH1):c.790+4A>G rs267607786
NM_000249.3(MLH1):c.814T>G (p.Leu272Val) rs63751252
NM_000249.3(MLH1):c.83C>T (p.Pro28Leu) rs63750792
NM_000249.3(MLH1):c.90T>G (p.Asn30Lys) rs863224637
NM_000249.3(MLH1):c.920T>C (p.Val307Ala) rs863224638
NM_000249.3(MLH1):c.92C>G (p.Ala31Gly) rs730882127
NM_000249.3(MLH1):c.940G>T (p.Val314Phe) rs863224639
NM_000249.3(MLH1):c.955G>T (p.Glu319Ter) rs63750796
NM_000249.3(MLH1):c.97A>G (p.Lys33Glu) rs878853795
NM_000251.2(MSH2):c.(?_-1)_1076+?del
NM_000251.2(MSH2):c.-125_1076+?del
NM_000251.2(MSH2):c.-125_1076+?dup1201
NM_000251.2(MSH2):c.-125_645+?del
NM_000251.2(MSH2):c.-181G>A rs786201698
NM_000251.2(MSH2):c.-225G>C rs138068023
NM_000251.2(MSH2):c.1006C>A (p.Pro336Thr) rs63751062
NM_000251.2(MSH2):c.1012G>A (p.Gly338Arg) rs63751004
NM_000251.2(MSH2):c.1013G>C (p.Gly338Ala) rs587779065
NM_000251.2(MSH2):c.1016A>C (p.Gln339Pro) rs1060502006
NM_000251.2(MSH2):c.1029C>A (p.Asn343Lys) rs1060501995
NM_000251.2(MSH2):c.103C>T (p.Arg35Cys) rs1060502034
NM_000251.2(MSH2):c.104G>A (p.Arg35His) rs1060502012
NM_000251.2(MSH2):c.1077-?_*279+?del
NM_000251.2(MSH2):c.1077-?_1276+?del
NM_000251.2(MSH2):c.1077-?_1276+?dup
NM_000251.2(MSH2):c.1111G>C (p.Glu371Gln) rs1060501994
NM_000251.2(MSH2):c.1114T>C (p.Leu372=) rs770201760
NM_000251.2(MSH2):c.1118G>A (p.Arg373Lys) rs864622254
NM_000251.2(MSH2):c.1120C>T (p.Gln374Ter) rs63750558
NM_000251.2(MSH2):c.112G>T (p.Asp38Tyr) rs730881761
NM_000251.2(MSH2):c.115_123del (p.Arg39_Asp41del) rs863224831
NM_000251.2(MSH2):c.1172C>T (p.Ala391Val) rs864622674
NM_000251.2(MSH2):c.1193C>T (p.Ala398Val) rs1060502019
NM_000251.2(MSH2):c.1223A>G (p.Tyr408Cys) rs63750379
NM_000251.2(MSH2):c.1225C>G (p.Gln409Glu) rs151244108
NM_000251.2(MSH2):c.1264G>A (p.Glu422Lys) rs63751712
NM_000251.2(MSH2):c.1277-?_1386+?del
NM_000251.2(MSH2):c.1277-?_1661+?del
NM_000251.2(MSH2):c.1277-?_2634+?del
NM_000251.2(MSH2):c.1387-?_1510+?del
NM_000251.2(MSH2):c.1387-?_1661+?del
NM_000251.2(MSH2):c.1397A>G (p.His466Arg) rs544265737
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.1442T>A (p.Leu481Ter) rs786203036
NM_000251.2(MSH2):c.1469A>G (p.Lys490Arg) rs1060502008
NM_000251.2(MSH2):c.1470_1473delinsAAA (p.Met492fs) rs1060502029
NM_000251.2(MSH2):c.1510+2T>C rs1060502023
NM_000251.2(MSH2):c.1510+6_1510+7del rs1060502013
NM_000251.2(MSH2):c.1511-41G>C rs202215396
NM_000251.2(MSH2):c.1528C>T (p.Gln510Ter) rs587779097
NM_000251.2(MSH2):c.1546A>G (p.Ser516Gly) rs878853803
NM_000251.2(MSH2):c.1547G>A (p.Ser516Asn) rs373564353
NM_000251.2(MSH2):c.1550C>T (p.Ala517Val) rs1060501997
NM_000251.2(MSH2):c.1638G>C (p.Lys546Asn) rs372350768
NM_000251.2(MSH2):c.1654A>G (p.Thr552Ala) rs63750838
NM_000251.2(MSH2):c.1662-12_1677del rs864622436
NM_000251.2(MSH2):c.1662-3C>T rs878853804
NM_000251.2(MSH2):c.1662-?_*(1_?)del
NM_000251.2(MSH2):c.1667dup (p.Leu556fs) rs267607694
NM_000251.2(MSH2):c.1670C>G (p.Thr557Ser) rs139920308
NM_000251.2(MSH2):c.167A>T (p.Glu56Val) rs587782004
NM_000251.2(MSH2):c.1686G>C (p.Glu562Asp) rs786203850
NM_000251.2(MSH2):c.1699A>G (p.Lys567Glu) rs63751149
NM_000251.2(MSH2):c.1700_1704del (p.Lys567fs) rs63750474
NM_000251.2(MSH2):c.1726G>C (p.Ala576Pro) rs587779107
NM_000251.2(MSH2):c.1759+1G>C rs587779108
NM_000251.2(MSH2):c.1759+3A>T rs863224630
NM_000251.2(MSH2):c.1813G>C (p.Val605Leu) rs730881777
NM_000251.2(MSH2):c.1818_1877del (p.Ser607_Glu626del) rs1553368576
NM_000251.2(MSH2):c.181C>G (p.Gln61Glu) rs63750951
NM_000251.2(MSH2):c.1825G>T (p.Ala609Ser) rs150980616
NM_000251.2(MSH2):c.1861C>G (p.Arg621Gly) rs63750508
NM_000251.2(MSH2):c.1924G>T (p.Val642Phe) rs776528054
NM_000251.2(MSH2):c.1935A>C (p.Gln645His) rs587780684
NM_000251.2(MSH2):c.1951A>G (p.Ile651Val) rs878853806
NM_000251.2(MSH2):c.1963_1964del (p.Val655fs) rs864622121
NM_000251.2(MSH2):c.1980T>A (p.Asp660Glu) rs1060501988
NM_000251.2(MSH2):c.1986G>C (p.Gln662His) rs587780685
NM_000251.2(MSH2):c.1A>T (p.Met1Leu) rs267607911
NM_000251.2(MSH2):c.2005+6A>C rs1060502018
NM_000251.2(MSH2):c.2006-?_2210+?del
NM_000251.2(MSH2):c.2032T>C (p.Tyr678His) rs876659093
NM_000251.2(MSH2):c.2066C>T (p.Ala689Val) rs1060502020
NM_000251.2(MSH2):c.2073T>G (p.Ile691Met) rs779101144
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.2096C>G (p.Ser699Ter) rs587779136
NM_000251.2(MSH2):c.2096C>T (p.Ser699Leu) rs587779136
NM_000251.2(MSH2):c.212-?_1076+?del
NM_000251.2(MSH2):c.212-?_366+?del
NM_000251.2(MSH2):c.212-?_366+?dup
NM_000251.2(MSH2):c.2125T>G (p.Leu709Val) rs1060502030
NM_000251.2(MSH2):c.2150_2153del (p.Ser717fs) rs878853809
NM_000251.2(MSH2):c.2161G>T (p.Gly721Ter) rs1060502032
NM_000251.2(MSH2):c.2178G>A (p.Met726Ile) rs587782396
NM_000251.2(MSH2):c.2179G>C (p.Ala727Pro) rs104895026
NM_000251.2(MSH2):c.2242G>C (p.Asp748His) rs267608007
NM_000251.2(MSH2):c.2272G>A (p.Asp758Asn) rs876658254
NM_000251.2(MSH2):c.2282G>C (p.Gly761Ala) rs876659937
NM_000251.2(MSH2):c.2283del (p.Gly761_Leu762insTer) rs786204050
NM_000251.2(MSH2):c.228G>T (p.Gln76His) rs587782857
NM_000251.2(MSH2):c.2309T>C (p.Ile770Thr) rs371718349
NM_000251.2(MSH2):c.2321T>G (p.Ile774Ser) rs878853811
NM_000251.2(MSH2):c.2366C>T (p.Ala789Val) rs876660292
NM_000251.2(MSH2):c.2393A>G (p.Asn798Ser) rs786204073
NM_000251.2(MSH2):c.23C>G (p.Thr8Arg) rs17217716
NM_000251.2(MSH2):c.2410G>A (p.Ala804Thr) rs1060502005
NM_000251.2(MSH2):c.2446C>T (p.Gln816Ter) rs63749917
NM_000251.2(MSH2):c.2458+3A>C rs761709497
NM_000251.2(MSH2):c.2459-1G>A rs1060501991
NM_000251.2(MSH2):c.2518G>A (p.Val840Ile) rs878853812
NM_000251.2(MSH2):c.2579C>A (p.Ser860Ter) rs63750849
NM_000251.2(MSH2):c.2591A>C (p.Asp864Ala) rs863224642
NM_000251.2(MSH2):c.2620T>G (p.Tyr874Asp) rs879254152
NM_000251.2(MSH2):c.2634+5G>T rs267608017
NM_000251.2(MSH2):c.2634+8A>G rs1060502004
NM_000251.2(MSH2):c.264dup (p.Val89fs) rs267607920
NM_000251.2(MSH2):c.2697G>T (p.Met899Ile) rs878853813
NM_000251.2(MSH2):c.2699C>G (p.Ser900Ter) rs878853814
NM_000251.2(MSH2):c.2716A>G (p.Ile906Val) rs876658598
NM_000251.2(MSH2):c.2718A>G (p.Ile906Met) rs876659835
NM_000251.2(MSH2):c.2734A>C (p.Lys912Gln) rs1060501998
NM_000251.2(MSH2):c.2738C>G (p.Ala913Gly) rs1060502026
NM_000251.2(MSH2):c.2782T>C (p.Ser928Pro) rs587781852
NM_000251.2(MSH2):c.2786G>A (p.Arg929Gln) rs587779967
NM_000251.2(MSH2):c.301G>T (p.Glu101Ter) rs63750318
NM_000251.2(MSH2):c.340G>T (p.Glu114Ter) rs878853815
NM_000251.2(MSH2):c.361T>A (p.Tyr121Asn) rs878853816
NM_000251.2(MSH2):c.365A>T (p.Lys122Met) rs863224643
NM_000251.2(MSH2):c.367-?_1076+?del
NM_000251.2(MSH2):c.367-?_1386+?del
NM_000251.2(MSH2):c.367-?_645+?del
NM_000251.2(MSH2):c.388C>T (p.Gln130Ter) rs1060501989
NM_000251.2(MSH2):c.427G>A (p.Ala143Thr) rs878853817
NM_000251.2(MSH2):c.431C>G (p.Ser144Cys) rs878853818
NM_000251.2(MSH2):c.433A>G (p.Ile145Val) rs876659264
NM_000251.2(MSH2):c.510dup (p.Arg171fs) rs1553350787
NM_000251.2(MSH2):c.587C>A (p.Pro196Gln) rs754478179
NM_000251.2(MSH2):c.605C>G (p.Pro202Arg) rs1060502002
NM_000251.2(MSH2):c.622_627dup (p.Gly208_Asp209dup) rs1553350958
NM_000251.2(MSH2):c.646-?_792+?del
NM_000251.2(MSH2):c.712T>G (p.Tyr238Asp) rs1060501987
NM_000251.2(MSH2):c.735G>C (p.Leu245Phe) rs864622271
NM_000251.2(MSH2):c.744A>C (p.Lys248Asn) rs1060502022
NM_000251.2(MSH2):c.781A>G (p.Met261Val) rs786201941
NM_000251.2(MSH2):c.782_783insA (p.Met261fs) rs786204144
NM_000251.2(MSH2):c.786G>T (p.Glu262Asp) rs754820584
NM_000251.2(MSH2):c.792+6T>A rs553480072
NM_000251.2(MSH2):c.792G>A (p.Gln264=) rs587779183
NM_000251.2(MSH2):c.793-?_1076+?del
NM_000251.2(MSH2):c.803C>T (p.Ser268Leu) rs563410947
NM_000251.2(MSH2):c.819_821delinsTG (p.Ile274fs) rs864622261
NM_000251.2(MSH2):c.830T>A (p.Leu277Ter) rs786203424
NM_000251.2(MSH2):c.842C>G (p.Ser281Ter) rs63749991
NM_000251.2(MSH2):c.854A>G (p.Asn285Ser) rs1060502031
NM_000251.2(MSH2):c.85A>T (p.Lys29Ter) rs1060502001
NM_000251.2(MSH2):c.860dup (p.Gln288fs) rs193922375
NM_000251.2(MSH2):c.912dup (p.Ala305fs) rs863224833
NM_000251.2(MSH2):c.92C>G (p.Thr31Ser) rs746635262
NM_000251.2(MSH2):c.942+2_942+6del rs755583143
NM_000251.2(MSH2):c.94A>C (p.Thr32Pro) rs1060502033
NM_000251.2(MSH2):c.955G>T (p.Asp319Tyr) rs876660605
NM_000251.2(MSH2):c.956A>T (p.Asp319Val) rs786204185
NM_000251.2(MSH2):c.95C>A (p.Thr32Asn) rs552361923
NM_000251.2(MSH2):c.997T>C (p.Cys333Arg) rs63750468
NM_000535.6(PMS2):c.(?_-1)_2006+?dup
NM_000535.6(PMS2):c.(?_-87)_23+?del
NM_000535.6(PMS2):c.-87_537+?del
NM_000535.6(PMS2):c.1145-?_2174+?dup1030
NM_000535.6(PMS2):c.164-?_2006+?del
NM_000535.6(PMS2):c.2007-?_2174+?del
NM_000535.6(PMS2):c.2276-?_*160+?del
NM_000535.6(PMS2):c.2276-?_2445+?del
NM_000535.6(PMS2):c.538-?_903+?del
NM_000535.6(PMS2):c.804-?_2006+?del
NM_000535.6(PMS2):c.904-?_1144+?del
NM_000535.6(PMS2):c.989-?_1144+?del
NM_000535.7(PMS2):c.1040A>G (p.Glu347Gly) rs878854031
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp) rs150515238
NM_000535.7(PMS2):c.1048C>T (p.Leu350Phe) rs587782875
NM_000535.7(PMS2):c.1053G>C (p.Leu351Phe) rs1060503145
NM_000535.7(PMS2):c.1117A>G (p.Ser373Gly) rs1060503125
NM_000535.7(PMS2):c.1119T>G (p.Ser373Arg) rs1060503147
NM_000535.7(PMS2):c.1144+5del rs878854032
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.1262G>A (p.Arg421Gln) rs778482303
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter) rs863224496
NM_000535.7(PMS2):c.129del (p.Glu44fs) rs1060503148
NM_000535.7(PMS2):c.130G>C (p.Glu44Gln) rs786202669
NM_000535.7(PMS2):c.1312A>C (p.Lys438Gln) rs878854033
NM_000535.7(PMS2):c.1343G>A (p.Gly448Glu) rs1060503118
NM_000535.7(PMS2):c.1354G>T (p.Gly452Cys) rs569947936
NM_000535.7(PMS2):c.1358T>C (p.Met453Thr) rs1060503130
NM_000535.7(PMS2):c.1361T>C (p.Leu454Pro) rs772659239
NM_000535.7(PMS2):c.1373C>T (p.Thr458Ile) rs755348833
NM_000535.7(PMS2):c.1376C>A (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.1393A>C (p.Lys465Gln) rs1060503135
NM_000535.7(PMS2):c.1423G>A (p.Val475Met) rs864622579
NM_000535.7(PMS2):c.1540C>T (p.His514Tyr) rs878854036
NM_000535.7(PMS2):c.1576del (p.Asp526fs) rs863224497
NM_000535.7(PMS2):c.1578C>G (p.Asp526Glu) rs63750236
NM_000535.7(PMS2):c.1591G>T (p.Glu531Ter) rs878854037
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup) rs587780043
NM_000535.7(PMS2):c.164-6T>C rs1060504837
NM_000535.7(PMS2):c.1654C>A (p.His552Asn) rs786204114
NM_000535.7(PMS2):c.1702C>T (p.Pro568Ser) rs786204115
NM_000535.7(PMS2):c.1712T>A (p.Leu571His) rs1060503128
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer) rs1060503126
NM_000535.7(PMS2):c.1726A>T (p.Thr576Ser) rs863224677
NM_000535.7(PMS2):c.1730dup (p.Arg578fs) rs587779330
NM_000535.7(PMS2):c.1750dup (p.Ile584fs) rs864622600
NM_000535.7(PMS2):c.1796A>T (p.Asp599Val) rs878854039
NM_000535.7(PMS2):c.1850C>T (p.Pro617Leu) rs747785888
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter) rs1060503138
NM_000535.7(PMS2):c.1903G>A (p.Glu635Lys) rs878854040
NM_000535.7(PMS2):c.1906G>A (p.Ala636Thr) rs876658863
NM_000535.7(PMS2):c.1912C>T (p.Gln638Ter) rs764342199
NM_000535.7(PMS2):c.1920A>G (p.Glu640=) rs1060503113
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg) rs749141001
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu) rs878854041
NM_000535.7(PMS2):c.2043G>T (p.Gln681His) rs876658953
NM_000535.7(PMS2):c.2096A>G (p.Asp699Gly) rs878854043
NM_000535.7(PMS2):c.2127C>G (p.Phe709Leu) rs199943748
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915
NM_000535.7(PMS2):c.2171T>C (p.Ile724Thr) rs1060503123
NM_000535.7(PMS2):c.2177C>T (p.Pro726Leu) rs876658439
NM_000535.7(PMS2):c.2245A>G (p.Asn749Asp) rs878854045
NM_000535.7(PMS2):c.2278C>T (p.Pro760Ser) rs763468927
NM_000535.7(PMS2):c.2330C>G (p.Thr777Ser) rs777728316
NM_000535.7(PMS2):c.24-3T>C rs749485884
NM_000535.7(PMS2):c.2445+1G>C rs876661113
NM_000535.7(PMS2):c.2447T>A (p.Val816Glu) rs1060503140
NM_000535.7(PMS2):c.2469C>T (p.Asn823=) rs878854048
NM_000535.7(PMS2):c.2550_2552delinsCGCCA (p.Met850fs) rs1064792975
NM_000535.7(PMS2):c.256A>C (p.Lys86Gln) rs544441867
NM_000535.7(PMS2):c.291C>A (p.Asp97Glu) rs878854049
NM_000535.7(PMS2):c.29A>C (p.Glu10Ala) rs878854050
NM_000535.7(PMS2):c.331C>G (p.Leu111Val) rs864622232
NM_000535.7(PMS2):c.378C>G (p.His126Gln) rs768488890
NM_000535.7(PMS2):c.386C>T (p.Ala129Val) rs752284380
NM_000535.7(PMS2):c.409T>G (p.Phe137Val) rs1060503141
NM_000535.7(PMS2):c.43A>G (p.Ile15Val) rs878854051
NM_000535.7(PMS2):c.448C>T (p.Pro150Ser) rs1060503120
NM_000535.7(PMS2):c.455C>G (p.Pro152Arg) rs876660161
NM_000535.7(PMS2):c.465C>A (p.Thr155=) rs863224369
NM_000535.7(PMS2):c.471C>A (p.Val157=) rs878854052
NM_000535.7(PMS2):c.530T>C (p.Ile177Thr) rs769312937
NM_000535.7(PMS2):c.532_534AAG[1] (p.Lys179del) rs876661092
NM_000535.7(PMS2):c.537+1G>A rs863224450
NM_000535.7(PMS2):c.537+4C>G rs864622272
NM_000535.7(PMS2):c.537+4C>T rs864622272
NM_000535.7(PMS2):c.537G>A (p.Lys179=) rs864622074
NM_000535.7(PMS2):c.542A>T (p.Tyr181Phe) rs863224681
NM_000535.7(PMS2):c.59G>C (p.Arg20Pro) rs10254120
NM_000535.7(PMS2):c.620G>C (p.Gly207Ala) rs374704824
NM_000535.7(PMS2):c.68T>G (p.Val23Gly) rs1060503114
NM_000535.7(PMS2):c.712A>G (p.Ser238Gly) rs1060503149
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.739C>T (p.Pro247Ser) rs878854058
NM_000535.7(PMS2):c.773G>A (p.Ser258Asn) rs587780727
NM_000535.7(PMS2):c.779_780delinsAG (p.Ser260Ter) rs730881920
NM_000535.7(PMS2):c.791A>C (p.His264Pro) rs1060503129
NM_000535.7(PMS2):c.859dup (p.Arg287fs) rs1554300763
NM_000535.7(PMS2):c.860G>A (p.Arg287Lys) rs1060503122
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln) rs375507981
NM_000535.7(PMS2):c.938A>G (p.Tyr313Cys) rs587782513
NM_000535.7(PMS2):c.959T>G (p.Phe320Cys) rs1060503121
NM_001167617.2(MLH1):c.-161dup rs63750867
NM_001167617.2(MLH1):c.-171del rs587778896
NM_001167617.2(MLH1):c.-22del rs1060500688
NM_001167617.2(MLH1):c.-479dup rs63750057
NM_001167618.2(MLH1):c.-18_2del (p.Met1fs) rs863224480
NM_001167618.2(MLH1):c.-320_-317del rs587779014
NM_001167618.2(MLH1):c.-342del rs63750865
NM_001167618.2(MLH1):c.-59del rs63750385
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.14-2del rs1060502007
NM_001258281.1(MSH2):c.1561+11_1561+15del rs878853805
NM_001258281.1(MSH2):c.2356_2358GAG[1] (p.Glu787del) rs766906365
NM_001258281.1(MSH2):c.810del (p.Gln271fs) rs879253899
NM_001281492.1(MSH6):c.1666_1670delinsCTTCTACCTCAAAAA (p.Gly556fs) rs878853711
NM_001281492.1(MSH6):c.1755_1756CA[1] (p.Thr586fs) rs786204048
NM_001281492.1(MSH6):c.1918_1922delinsT (p.Gly640fs) rs864622585
NM_001281492.1(MSH6):c.2251delinsAAAA (p.Gly751delinsLysSer) rs63751408
NM_001281492.1(MSH6):c.2871_2873CTT[1] (p.Phe958del) rs1060502917
NM_001281492.1(MSH6):c.3626_3627dup (p.Ser1210fs) rs876661127
NM_001281492.1(MSH6):c.3689_3690TA[1] (p.Ter1231AspextTer?) rs863224830
NM_001281493.1(MSH6):c.-166del rs267608041
NM_001354621.1(MLH1):c.-112_-101del rs1064792918
NM_001354621.1(MLH1):c.-139-2736_-139-2735del rs63750034
NM_001354621.1(MLH1):c.-139-2769dup rs878853792
NM_001354621.1(MLH1):c.-65_-64AG[3] rs878853794
NM_001354621.1(MLH1):c.-7del rs63750339
NM_001354624.1(MLH1):c.-28dup rs1060500707
NM_001354624.1(MLH1):c.-32del rs1060500703
NM_001354624.1(MLH1):c.-3_4del (p.Met1fs) rs1060500692
NM_001354630.1(MLH1):c.1732-877dup rs1060500687
NM_001354630.1(MLH1):c.1732-895_1732-893del rs63750486
NM_002354.2(EPCAM):c.(?_-1)_858+?dup
NM_002354.2(EPCAM):c.111C>G (p.Asn37Lys) rs543584983
NM_002354.2(EPCAM):c.123T>A (p.Asn41Lys) rs750032094
NM_002354.2(EPCAM):c.125A>G (p.Asn42Ser) rs864622433
NM_002354.2(EPCAM):c.133C>T (p.Gln45Ter) rs878854485
NM_002354.2(EPCAM):c.147T>C (p.Thr49=) rs190508047
NM_002354.2(EPCAM):c.151G>T (p.Val51Phe) rs781673286
NM_002354.2(EPCAM):c.161A>G (p.Gln54Arg) rs376674068
NM_002354.2(EPCAM):c.179C>T (p.Ser60Leu) rs147494515
NM_002354.2(EPCAM):c.194A>C (p.Lys65Thr) rs864622746
NM_002354.2(EPCAM):c.20T>A (p.Leu7His) rs878854486
NM_002354.2(EPCAM):c.269A>G (p.Asn90Ser) rs587780764
NM_002354.2(EPCAM):c.28G>A (p.Gly10Arg) rs863224709
NM_002354.2(EPCAM):c.299A>G (p.Asp100Gly) rs587780557
NM_002354.2(EPCAM):c.299A>T (p.Asp100Val) rs587780557
NM_002354.2(EPCAM):c.319G>A (p.Ala107Thr) rs587780765
NM_002354.2(EPCAM):c.320C>T (p.Ala107Val) rs863224710
NM_002354.2(EPCAM):c.34C>A (p.Leu12Met) rs746990000
NM_002354.2(EPCAM):c.380C>T (p.Thr127Ile) rs863224711
NM_002354.2(EPCAM):c.390C>G (p.Asp130Glu) rs863224389
NM_002354.2(EPCAM):c.390C>T (p.Asp130=) rs863224389
NM_002354.2(EPCAM):c.392C>A (p.Thr131Asn) rs748892317
NM_002354.2(EPCAM):c.436A>G (p.Ile146Val) rs751352456
NM_002354.2(EPCAM):c.450C>G (p.His150Gln) rs864622724
NM_002354.2(EPCAM):c.45_65del (p.Thr17_Ala23del) rs864622092
NM_002354.2(EPCAM):c.466C>T (p.Pro156Ser) rs587780766
NM_002354.2(EPCAM):c.491C>T (p.Thr164Ile) rs587780767
NM_002354.2(EPCAM):c.496C>T (p.Leu166Phe) rs587780768
NM_002354.2(EPCAM):c.50C>T (p.Thr17Met) rs116429842
NM_002354.2(EPCAM):c.517C>T (p.Arg173Cys) rs747286107
NM_002354.2(EPCAM):c.518G>A (p.Arg173His) rs771569331
NM_002354.2(EPCAM):c.51_56delGGCGAC rs878854490
NM_002354.2(EPCAM):c.523C>T (p.Gln175Ter) rs878854491
NM_002354.2(EPCAM):c.533C>T (p.Pro178Leu) rs772471530
NM_002354.2(EPCAM):c.574A>T (p.Thr192Ser) rs587780769
NM_002354.2(EPCAM):c.583C>G (p.Leu195Val) rs770760223
NM_002354.2(EPCAM):c.597T>C (p.Ser199=) rs587780770
NM_002354.2(EPCAM):c.598_600delTCT rs863224840
NM_002354.2(EPCAM):c.601C>G (p.Gln201Glu) rs878854493
NM_002354.2(EPCAM):c.603A>G (p.Gln201=) rs730882126
NM_002354.2(EPCAM):c.612G>C (p.Gln204His) rs775276504
NM_002354.2(EPCAM):c.616G>A (p.Asp206Asn) rs367993015
NM_002354.2(EPCAM):c.643T>A (p.Tyr215Asn) rs750826481
NM_002354.2(EPCAM):c.658-6A>G rs768723264
NM_002354.2(EPCAM):c.667G>C (p.Glu223Gln) rs372674836
NM_002354.2(EPCAM):c.690A>C (p.Lys230Asn) rs864622463
NM_002354.2(EPCAM):c.739A>C (p.Thr247Pro) rs147958220
NM_002354.2(EPCAM):c.74A>T (p.Glu25Val) rs878854494
NM_002354.2(EPCAM):c.76+5G>A rs863224712
NM_002354.2(EPCAM):c.764A>C (p.Lys255Thr) rs587780771
NM_002354.2(EPCAM):c.766G>T (p.Ala256Ser) rs864622089
NM_002354.2(EPCAM):c.76G>A (p.Glu26Lys) rs764492954
NM_002354.2(EPCAM):c.7C>T (p.Pro3Ser) rs587780772
NM_002354.2(EPCAM):c.815T>C (p.Ile272Thr) rs377276151
NM_002354.2(EPCAM):c.833C>T (p.Ala278Val) rs778825812
NM_002354.2(EPCAM):c.835G>C (p.Val279Leu) rs878854495
NM_002354.2(EPCAM):c.859-1G>A rs863224453
NM_002354.2(EPCAM):c.859-3C>G rs201314303
NM_002354.2(EPCAM):c.859-6A>C rs150307203
NM_002354.2(EPCAM):c.859-?_*415+?dup
NM_002354.2(EPCAM):c.859-?_*415del
NM_002354.2(EPCAM):c.866C>T (p.Ser289Phe) rs864622286
NM_002354.2(EPCAM):c.878G>A (p.Arg293Lys) rs786204192
NM_002354.2(EPCAM):c.904-2A>G rs878854496

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