ClinVar Miner

List of variants studied for Lynch syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 494
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HGVS dbSNP
NM_000179.2(MSH6):c.-118G>A rs556432240
NM_000179.2(MSH6):c.-159C>T rs41540312
NM_000179.2(MSH6):c.-41G>T rs886056140
NM_000179.2(MSH6):c.-51G>T rs375109921
NM_000179.2(MSH6):c.-56G>T rs886056139
NM_000179.2(MSH6):c.1050C>T (p.Ala350=) rs730881802
NM_000179.2(MSH6):c.1167C>T (p.Pro389=) rs1042819
NM_000179.2(MSH6):c.1170T>C (p.Asp390=) rs55882234
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1267C>A (p.Leu423Ile) rs587781657
NM_000179.2(MSH6):c.1345C>T (p.Leu449=) rs3136333
NM_000179.2(MSH6):c.1449G>T (p.Val483=) rs35590297
NM_000179.2(MSH6):c.147C>T (p.Ala49=) rs768803986
NM_000179.2(MSH6):c.1665A>G (p.Ala555=) rs146785465
NM_000179.2(MSH6):c.1668T>C (p.Tyr556=) rs730882130
NM_000179.2(MSH6):c.1915G>A (p.Glu639Lys) rs143517321
NM_000179.2(MSH6):c.2013G>A (p.Leu671=) rs765289515
NM_000179.2(MSH6):c.2087T>C (p.Ile696Thr) rs587779229
NM_000179.2(MSH6):c.2098C>A (p.Leu700Ile) rs587779230
NM_000179.2(MSH6):c.2230dup (p.Glu744fs) rs786201050
NM_000179.2(MSH6):c.2253T>C (p.Asn751=) rs2020913
NM_000179.2(MSH6):c.2281A>G (p.Arg761Gly) rs199876321
NM_000179.2(MSH6):c.233G>A (p.Arg78Lys) rs864622425
NM_000179.2(MSH6):c.240A>G (p.Val80=) rs864622281
NM_000179.2(MSH6):c.2410A>G (p.Lys804Glu) rs1064793552
NM_000179.2(MSH6):c.2482G>A (p.Val828Ile) rs587781349
NM_000179.2(MSH6):c.249T>G (p.Ala83=) rs876658308
NM_000179.2(MSH6):c.2562G>T (p.Lys854Asn) rs759048538
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.2664G>C (p.Lys888Asn) rs730881798
NM_000179.2(MSH6):c.2722G>A (p.Glu908Lys) rs886056144
NM_000179.2(MSH6):c.2940A>G (p.Glu980=) rs730881818
NM_000179.2(MSH6):c.2950A>C (p.Asn984His) rs146359682
NM_000179.2(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230
NM_000179.2(MSH6):c.3215G>A (p.Gly1072Asp) rs781243845
NM_000179.2(MSH6):c.3259C>A (p.Pro1087Thr) rs63750998
NM_000179.2(MSH6):c.3306T>A (p.Thr1102=) rs2020910
NM_000179.2(MSH6):c.333C>T (p.Tyr111=) rs786202772
NM_000179.2(MSH6):c.3354G>A (p.Glu1118=) rs35642130
NM_000179.2(MSH6):c.339C>T (p.His113=) rs886056141
NM_000179.2(MSH6):c.3513T>C (p.Asp1171=) rs63749834
NM_000179.2(MSH6):c.3557-3A>T rs41295274
NM_000179.2(MSH6):c.3642A>G (p.Glu1214=) rs765247025
NM_000179.2(MSH6):c.3647-3C>T rs1553332959
NM_000179.2(MSH6):c.3647-6T>A rs182871847
NM_000179.2(MSH6):c.3705T>C (p.Leu1235=) rs545552712
NM_000179.2(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999
NM_000179.2(MSH6):c.3801+5G>A rs201080919
NM_000179.2(MSH6):c.3851C>G (p.Thr1284Arg) rs63750836
NM_000179.2(MSH6):c.3942A>G (p.Gln1314=) rs768042560
NM_000179.2(MSH6):c.4001+11_4001+15dup rs587779302
NM_000179.2(MSH6):c.457+13A>G rs1800933
NM_000179.2(MSH6):c.531A>T (p.Gln177His) rs886056142
NM_000179.2(MSH6):c.628-13C>G rs538280815
NM_000179.2(MSH6):c.628-7C>A rs373129248
NM_000179.2(MSH6):c.733A>T (p.Ile245Leu) rs762168786
NM_000179.2(MSH6):c.984C>T (p.Ser328=) rs138143769
NM_000179.2(MSH6):c.997A>G (p.Thr333Ala) rs886056143
NM_000179.3(MSH6):c.*34G>C
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser) rs61753793
NM_000179.3(MSH6):c.1037C>T (p.Ser346Phe) rs567785169
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793
NM_000179.3(MSH6):c.186C>A (p.Arg62=) rs1042820
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757
NM_000179.3(MSH6):c.2356T>C (p.Tyr786His)
NM_000179.3(MSH6):c.276A>G (p.Pro92=) rs1800932
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser) rs587779934
NM_000179.3(MSH6):c.3438+14A>T rs2020911
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252
NM_000179.3(MSH6):c.34C>A (p.Pro12Thr) rs587782084
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu) rs202066386
NM_000179.3(MSH6):c.3873G>C (p.Lys1291Asn)
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809
NM_000179.3(MSH6):c.4002-10T>A rs545466048
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.3(MSH6):c.540T>C (p.Asp180=) rs1800935
NM_000179.3(MSH6):c.59C>T (p.Ala20Val) rs63750664
NM_000179.3(MSH6):c.642C>T (p.Tyr214=) rs1800937
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg) rs267608051
NM_000179.3(MSH6):c.929T>G (p.Leu310Arg)
NM_000249.3(MLH1):c.*32C>T rs200903126
NM_000249.3(MLH1):c.-101C>G rs772482820
NM_000249.3(MLH1):c.-107C>G rs587778886
NM_000249.3(MLH1):c.-114T>C rs886058380
NM_000249.3(MLH1):c.-117G>T rs565891017
NM_000249.3(MLH1):c.-22C>T rs771060933
NM_000249.3(MLH1):c.-86G>A rs558051715
NM_000249.3(MLH1):c.-93G>A rs1800734
NM_000249.3(MLH1):c.1038+15C>T rs886058382
NM_000249.3(MLH1):c.1104G>A (p.Ser368=) rs769364808
NM_000249.3(MLH1):c.1175A>G (p.Lys392Arg) rs587780678
NM_000249.3(MLH1):c.1236C>T (p.Val412=) rs369576099
NM_000249.3(MLH1):c.1266C>T (p.Gly422=) rs63750791
NM_000249.3(MLH1):c.1269G>A (p.Arg423=) rs373076967
NM_000249.3(MLH1):c.1541A>G (p.Asn514Ser) rs772245091
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.1572G>C (p.Met524Ile) rs587779953
NM_000249.3(MLH1):c.1620G>A (p.Leu540=) rs786202409
NM_000249.3(MLH1):c.1698T>C (p.Tyr566=) rs876658915
NM_000249.3(MLH1):c.1730C>T (p.Ser577Leu) rs56185292
NM_000249.3(MLH1):c.1731+11A>T rs886058384
NM_000249.3(MLH1):c.1743G>A (p.Pro581=) rs567838745
NM_000249.3(MLH1):c.1808C>G (p.Pro603Arg) rs63750876
NM_000249.3(MLH1):c.1854G>A (p.Lys618=) rs786202638
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.1989+12A>G rs755976424
NM_000249.3(MLH1):c.198C>T (p.Thr66=) rs61751642
NM_000249.3(MLH1):c.2024G>C (p.Ser675Thr) rs781637991
NM_000249.3(MLH1):c.2070C>T (p.Tyr690=) rs550890395
NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) rs63750114
NM_000249.3(MLH1):c.2146G>A (p.Val716Met) rs35831931
NM_000249.3(MLH1):c.2174G>A (p.Arg725His) rs566928243
NM_000249.3(MLH1):c.2252A>G (p.Lys751Arg) rs140195825
NM_000249.3(MLH1):c.303T>G (p.Gly101=) rs4647220
NM_000249.3(MLH1):c.375A>G (p.Ala125=) rs1800144
NM_000249.3(MLH1):c.42A>C (p.Thr14=) rs369737664
NM_000249.3(MLH1):c.474C>T (p.Asn158=) rs4647256
NM_000249.3(MLH1):c.52C>G (p.Arg18Gly) rs367654552
NM_000249.3(MLH1):c.539T>G (p.Val180Gly) rs63750102
NM_000249.3(MLH1):c.546-5del rs1553643965
NM_000249.3(MLH1):c.588+11G>C rs4647258
NM_000249.3(MLH1):c.589-15C>T rs55658850
NM_000249.3(MLH1):c.702G>A (p.Glu234=) rs35908749
NM_000249.3(MLH1):c.790+10A>G rs182733777
NM_000249.3(MLH1):c.81G>A (p.Arg27=) rs878853791
NM_000249.3(MLH1):c.843A>C (p.Ala281=) rs146796765
NM_000249.3(MLH1):c.848A>G (p.Tyr283Cys) rs201931669
NM_000249.3(MLH1):c.928A>G (p.Thr310Ala) rs779581111
NM_000249.3(MLH1):c.92C>G (p.Ala31Gly) rs730882127
NM_000249.4(MLH1):c.*121A>G
NM_000249.4(MLH1):c.-28A>G rs56198082
NM_000249.4(MLH1):c.1039-8T>A rs193922367
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000249.4(MLH1):c.1154G>A (p.Arg385His) rs63750430
NM_000249.4(MLH1):c.1166G>A (p.Arg389Gln) rs63750361
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527
NM_000249.4(MLH1):c.1524T>G (p.Ser508Arg) rs886058383
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146
NM_000249.4(MLH1):c.2038T>G rs63750809
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu) rs587779029
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) rs4986984
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.4(MLH1):c.91G>T (p.Ala31Ser)
NM_000251.2(MSH2):c.*129T>C rs587779059
NM_000251.2(MSH2):c.*141T>G rs17225053
NM_000251.2(MSH2):c.*221G>T rs587779060
NM_000251.2(MSH2):c.*226A>G rs17225060
NM_000251.2(MSH2):c.*52A>T rs886056138
NM_000251.2(MSH2):c.*7C>G rs886056137
NM_000251.2(MSH2):c.-118T>C rs2303425
NM_000251.2(MSH2):c.-29C>T rs199841800
NM_000251.2(MSH2):c.-43G>C rs781492698
NM_000251.2(MSH2):c.-68G>A rs576303132
NM_000251.2(MSH2):c.-76G>A rs34355730
NM_000251.2(MSH2):c.-94C>G rs786202841
NM_000251.2(MSH2):c.-98C>T rs777285149
NM_000251.2(MSH2):c.1076+4T>A rs764606343
NM_000251.2(MSH2):c.1077-10T>C rs17224360
NM_000251.2(MSH2):c.1124C>G (p.Thr375Ser) rs774539871
NM_000251.2(MSH2):c.1192G>A (p.Ala398Thr) rs988252817
NM_000251.2(MSH2):c.1193C>T (p.Ala398Val) rs1060502019
NM_000251.2(MSH2):c.1217G>A (p.Arg406Gln) rs146567853
NM_000251.2(MSH2):c.1255C>A (p.Gln419Lys) rs63750006
NM_000251.2(MSH2):c.1277-8T>C rs145400590
NM_000251.2(MSH2):c.1321A>C (p.Thr441Pro) rs587779086
NM_000251.2(MSH2):c.1387-8G>T rs187525243
NM_000251.2(MSH2):c.1461C>G (p.Asp487Glu) rs35107951
NM_000251.2(MSH2):c.1488A>G (p.Leu496=) rs267607960
NM_000251.2(MSH2):c.1530G>C (p.Gln510His) rs587782355
NM_000251.2(MSH2):c.1560A>G (p.Gly520=) rs63750820
NM_000251.2(MSH2):c.1662-9G>A rs17218356
NM_000251.2(MSH2):c.1666T>C (p.Leu556=) rs61756466
NM_000251.2(MSH2):c.1670C>G (p.Thr557Ser) rs139920308
NM_000251.2(MSH2):c.1680T>C (p.Asn560=) rs200056411
NM_000251.2(MSH2):c.1737A>G (p.Lys579=) rs61756467
NM_000251.2(MSH2):c.1781C>T (p.Thr594Ile) rs1553368510
NM_000251.2(MSH2):c.1804C>G (p.Leu602Val) rs748797209
NM_000251.2(MSH2):c.1886A>G (p.Gln629Arg) rs61756468
NM_000251.2(MSH2):c.198C>T (p.Tyr66=) rs730881784
NM_000251.2(MSH2):c.2064G>A (p.Met688Ile) rs63750790
NM_000251.2(MSH2):c.209C>A (p.Ala70Glu) rs587782481
NM_000251.2(MSH2):c.2106G>A (p.Val702=) rs786201108
NM_000251.2(MSH2):c.2154A>G (p.Gln718=) rs63750810
NM_000251.2(MSH2):c.2197G>A (p.Ala733Thr) rs772662439
NM_000251.2(MSH2):c.2205C>T (p.Ile735=) rs533553381
NM_000251.2(MSH2):c.2211-5T>G rs368596736
NM_000251.2(MSH2):c.2260A>G (p.Thr754Ala) rs757268664
NM_000251.2(MSH2):c.2271C>T (p.Tyr757=) rs56076152
NM_000251.2(MSH2):c.2308A>G (p.Ile770Val) rs63750684
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000251.2(MSH2):c.2400A>G (p.Leu800=) rs201298777
NM_000251.2(MSH2):c.2463C>T (p.Val821=) rs886056136
NM_000251.2(MSH2):c.2500G>A (p.Ala834Thr) rs63750757
NM_000251.2(MSH2):c.2580G>A (p.Ser860=) rs752428475
NM_000251.2(MSH2):c.2766T>C (p.Phe922=) rs55859129
NM_000251.2(MSH2):c.2801C>A (p.Thr934Lys) rs587779969
NM_000251.2(MSH2):c.335C>G (p.Ser112Cys) rs769215192
NM_000251.2(MSH2):c.336C>A (p.Ser112=) rs34312619
NM_000251.2(MSH2):c.499G>C (p.Asp167His) rs63750255
NM_000251.2(MSH2):c.505A>G (p.Ile169Val) rs63750716
NM_000251.2(MSH2):c.512G>A (p.Arg171Lys) rs63750902
NM_000251.2(MSH2):c.573C>T (p.Leu191=) rs1800151
NM_000251.2(MSH2):c.606C>G (p.Pro202=) rs63750600
NM_000251.2(MSH2):c.669G>A (p.Leu223=) rs751195930
NM_000251.2(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000251.2(MSH2):c.755A>C (p.Gln252Pro) rs370906735
NM_000251.2(MSH2):c.816G>A (p.Ala272=) rs368912987
NM_000251.2(MSH2):c.819A>G (p.Val273=) rs146577635
NM_000251.2(MSH2):c.843A>T (p.Ser281=) rs150197753
NM_000251.2(MSH2):c.942+28_942+29del rs11309117
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000251.2(MSH2):c.972G>A (p.Gln324=) rs63750505
NM_000251.2(MSH2):c.984C>T (p.Ala328=) rs4987189
NM_000251.3(MSH2):c.*47G>A
NM_000251.3(MSH2):c.*64T>C
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.3(MSH2):c.1511-9A>T rs12998837
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330
NM_000251.3(MSH2):c.1661+12G>A rs3732183
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910
NM_000251.3(MSH2):c.2005+3A>G
NM_000251.3(MSH2):c.2006-6T>C rs2303428
NM_000251.3(MSH2):c.211+9C>G rs2303426
NM_000251.3(MSH2):c.2503A>C (p.Asn835His) rs41295296
NM_000251.3(MSH2):c.2553T>G (p.Leu851=) rs1553370386
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342
NM_000251.3(MSH2):c.562G>A (p.Glu188Lys)
NM_000251.3(MSH2):c.638T>G (p.Leu213Arg)
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg) rs199676483
NM_000251.3(MSH2):c.942+26_942+29del rs11309117
NM_000535.6(PMS2):c.-93G>T rs6976537
NM_000535.7(PMS2):c.*107A>G rs148520351
NM_000535.7(PMS2):c.*17G>C rs556089649
NM_000535.7(PMS2):c.-4A>G rs544503598
NM_000535.7(PMS2):c.-7T>C rs199660792
NM_000535.7(PMS2):c.1026A>C (p.Gln342His) rs561993366
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400
NM_000535.7(PMS2):c.1359G>A (p.Met453Ile) rs886062401
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.7(PMS2):c.1435C>G (p.His479Asp) rs376344586
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys) rs376142390
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1689A>G (p.Arg563=) rs551226281
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.1916G>A (p.Ser639Asn) rs876659769
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys) rs886062400
NM_000535.7(PMS2):c.1936A>C (p.Arg646=) rs369582237
NM_000535.7(PMS2):c.1949C>T (p.Ala650Val) rs886062399
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys) rs778531080
NM_000535.7(PMS2):c.2006+6G>A rs111905775
NM_000535.7(PMS2):c.2007-4G>A rs1805326
NM_000535.7(PMS2):c.2007-7C>T rs55954143
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2174+9G>T
NM_000535.7(PMS2):c.2184_2185TC[1] (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325
NM_000535.7(PMS2):c.2275+11A>T
NM_000535.7(PMS2):c.2276-10A>G rs573900018
NM_000535.7(PMS2):c.23+10G>C rs192027828
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala) rs786202383
NM_000535.7(PMS2):c.288C>T (p.Ala96=) rs12532895
NM_000535.7(PMS2):c.353+4A>G rs760538709
NM_000535.7(PMS2):c.354-5C>G rs200591010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.7(PMS2):c.636G>A (p.Gln212=)
NM_000535.7(PMS2):c.705+3A>G rs764334813
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.7(PMS2):c.893A>G (p.Asp298Gly) rs876658970
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000535.7(PMS2):c.988+11T>C rs139969671
NM_001040108.1(MLH3):c.*1237A>G rs114347490
NM_001040108.1(MLH3):c.*1347T>G rs539246160
NM_001040108.1(MLH3):c.*1376C>T rs117160510
NM_001040108.1(MLH3):c.*1452G>T rs886050771
NM_001040108.1(MLH3):c.*1877T>C rs108622
NM_001040108.1(MLH3):c.*1896A>G rs28757059
NM_001040108.1(MLH3):c.*1990T>A rs886050769
NM_001040108.1(MLH3):c.*2086C>T rs886050768
NM_001040108.1(MLH3):c.*2174C>T rs28757060
NM_001040108.1(MLH3):c.*2417G>A rs175049
NM_001040108.1(MLH3):c.*2590T>C rs138458771
NM_001040108.1(MLH3):c.*2965C>T rs10134636
NM_001040108.1(MLH3):c.*3105C>G rs543449865
NM_001040108.1(MLH3):c.*3140C>T rs77514025
NM_001040108.1(MLH3):c.*3148A>G rs108621
NM_001040108.1(MLH3):c.*3206C>T rs188135545
NM_001040108.1(MLH3):c.*744A>G rs886050774
NM_001040108.1(MLH3):c.*772T>A rs182733472
NM_001040108.1(MLH3):c.*889G>A rs886050772
NM_001040108.1(MLH3):c.*957C>A rs424120
NM_001040108.1(MLH3):c.*958G>T rs398896
NM_001040108.1(MLH3):c.-120G>A rs886050782
NM_001040108.1(MLH3):c.-133C>G rs145920461
NM_001040108.1(MLH3):c.-149G>C rs886050783
NM_001040108.1(MLH3):c.-202A>C rs886050784
NM_001040108.1(MLH3):c.-204G>A rs116839793
NM_001040108.1(MLH3):c.-208G>A rs886050785
NM_001040108.1(MLH3):c.-27G>A rs886050780
NM_001040108.1(MLH3):c.-4T>G rs28756977
NM_001040108.1(MLH3):c.1144G>T (p.Val382Leu) rs558393444
NM_001040108.1(MLH3):c.124G>A (p.Ala42Thr) rs748676497
NM_001040108.1(MLH3):c.1258G>A (p.Val420Ile) rs28756982
NM_001040108.1(MLH3):c.1300A>G (p.Asn434Asp) rs886050777
NM_001040108.1(MLH3):c.1427T>C (p.Ile476Thr) rs759144160
NM_001040108.1(MLH3):c.149T>A (p.Phe50Tyr) rs148409389
NM_001040108.1(MLH3):c.1560G>T (p.Glu520Asp) rs886050776
NM_001040108.1(MLH3):c.1799G>A (p.Arg600Gln) rs28756984
NM_001040108.1(MLH3):c.1870G>C (p.Glu624Gln) rs28756986
NM_001040108.1(MLH3):c.1939C>T (p.Arg647Cys) rs28756987
NM_001040108.1(MLH3):c.206T>C (p.Val69Ala) rs886050779
NM_001040108.1(MLH3):c.2093A>G (p.Gln698Arg) rs148876417
NM_001040108.1(MLH3):c.2159A>G (p.Tyr720Cys) rs28756988
NM_001040108.1(MLH3):c.2167G>A (p.Val723Ile) rs28756989
NM_001040108.1(MLH3):c.2221G>T (p.Val741Phe) rs28756990
NM_001040108.1(MLH3):c.2373G>A (p.Leu791=) rs764724825
NM_001040108.1(MLH3):c.2390G>A (p.Arg797His) rs28756991
NM_001040108.1(MLH3):c.2425A>G (p.Met809Val) rs61752722
NM_001040108.1(MLH3):c.2476A>G (p.Asn826Asp) rs175081
NM_001040108.1(MLH3):c.2490T>G (p.Phe830Leu) rs114015611
NM_001040108.1(MLH3):c.2531C>T (p.Pro844Leu) rs175080
NM_001040108.1(MLH3):c.2533A>G (p.Ser845Gly) rs28756992
NM_001040108.1(MLH3):c.277C>G (p.Arg93Gly) rs28756978
NM_001040108.1(MLH3):c.2825C>T (p.Thr942Ile) rs17102999
NM_001040108.1(MLH3):c.2838C>A (p.Ser946=) rs181990057
NM_001040108.1(MLH3):c.2896T>C (p.Ser966Pro) rs17782839
NM_001040108.1(MLH3):c.2911G>A (p.Val971Ile) rs41555714
NM_001040108.1(MLH3):c.2924A>G (p.Asn975Ser) rs141066164
NM_001040108.1(MLH3):c.2987G>A (p.Gly996Glu) rs886050775
NM_001040108.1(MLH3):c.3020A>G (p.Asn1007Ser) rs776639203
NM_001040108.1(MLH3):c.3103G>A (p.Glu1035Lys) rs143865811
NM_001040108.1(MLH3):c.3136C>T (p.Arg1046Trp) rs765313787
NM_001040108.1(MLH3):c.3137G>A (p.Arg1046Gln) rs201303087
NM_001040108.1(MLH3):c.3217G>A (p.Asp1073Asn) rs28756993
NM_001040108.1(MLH3):c.3280+14A>T rs142042839
NM_001040108.1(MLH3):c.3312C>T (p.Ser1104=) rs149369905
NM_001040108.1(MLH3):c.3315C>A (p.Asp1105Glu) rs28757008
NM_001040108.1(MLH3):c.3384T>C (p.Thr1128=) rs370951929
NM_001040108.1(MLH3):c.3405C>T (p.Ser1135=) rs746155226
NM_001040108.1(MLH3):c.3440A>T (p.Asn1147Ile) rs142124529
NM_001040108.1(MLH3):c.3488G>A (p.Gly1163Asp) rs28757011
NM_001040108.1(MLH3):c.3576C>T (p.Leu1192=) rs376981545
NM_001040108.1(MLH3):c.3746C>T (p.Ser1249Phe) rs139265757
NM_001040108.1(MLH3):c.3752G>A (p.Arg1251Gln) rs201721635
NM_001040108.1(MLH3):c.3784C>T (p.Pro1262Ser) rs372912259
NM_001040108.1(MLH3):c.3987+15C>T rs117251698
NM_001040108.1(MLH3):c.3987+7C>A rs28757028
NM_001040108.1(MLH3):c.4032C>T (p.Gly1344=) rs565238806
NM_001040108.1(MLH3):c.408T>C (p.Asp136=) rs61755655
NM_001040108.1(MLH3):c.4091-2A>C rs906969002
NM_001040108.1(MLH3):c.423C>T (p.Ser141=) rs142179277
NM_001040108.1(MLH3):c.4242+13C>G rs77157930
NM_001040108.1(MLH3):c.429G>A (p.Gly143=) rs138943686
NM_001040108.1(MLH3):c.4335A>G (p.Gln1445=) rs13712
NM_001040108.1(MLH3):c.4351G>A (p.Glu1451Lys) rs28939071
NM_001040108.1(MLH3):c.444G>C (p.Val148=) rs11556091
NM_001040108.1(MLH3):c.666G>A (p.Lys222=) rs28756980
NM_001040108.1(MLH3):c.691A>C (p.Lys231Gln) rs28756981
NM_001040108.1(MLH3):c.713A>C (p.Tyr238Ser) rs144707485
NM_001040108.1(MLH3):c.837C>T (p.Cys279=) rs149962294
NM_001040108.1(MLH3):c.8A>G (p.Lys3Arg) rs114829239
NM_001040108.1(MLH3):c.961A>G (p.Met321Val) rs886050778
NM_001040108.2(MLH3):c.*1073A>C
NM_001040108.2(MLH3):c.*1110T>C
NM_001040108.2(MLH3):c.*1159A>C
NM_001040108.2(MLH3):c.*1235T>C
NM_001040108.2(MLH3):c.*1291G>A
NM_001040108.2(MLH3):c.*1312G>A
NM_001040108.2(MLH3):c.*1381T>C
NM_001040108.2(MLH3):c.*1447C>T
NM_001040108.2(MLH3):c.*1448G>A
NM_001040108.2(MLH3):c.*1470C>T
NM_001040108.2(MLH3):c.*1566G>A
NM_001040108.2(MLH3):c.*1628G>A
NM_001040108.2(MLH3):c.*1674T>C
NM_001040108.2(MLH3):c.*1767G>A
NM_001040108.2(MLH3):c.*187T>C
NM_001040108.2(MLH3):c.*2058G>T
NM_001040108.2(MLH3):c.*2398C>A
NM_001040108.2(MLH3):c.*2407T>C
NM_001040108.2(MLH3):c.*2469A>G
NM_001040108.2(MLH3):c.*2470C>T
NM_001040108.2(MLH3):c.*2495C>T
NM_001040108.2(MLH3):c.*2679A>G
NM_001040108.2(MLH3):c.*3047G>T
NM_001040108.2(MLH3):c.*3094C>T
NM_001040108.2(MLH3):c.*3140C>G
NM_001040108.2(MLH3):c.*3258T>C
NM_001040108.2(MLH3):c.*541A>G
NM_001040108.2(MLH3):c.*563A>G
NM_001040108.2(MLH3):c.*646G>A
NM_001040108.2(MLH3):c.*755T>C
NM_001040108.2(MLH3):c.*884C>G
NM_001040108.2(MLH3):c.*888C>T
NM_001040108.2(MLH3):c.-124A>C
NM_001040108.2(MLH3):c.1125T>C (p.Asp375=)
NM_001040108.2(MLH3):c.1481A>G (p.His494Arg)
NM_001040108.2(MLH3):c.1736C>T (p.Thr579Ile)
NM_001040108.2(MLH3):c.1814C>T (p.Ser605Phe)
NM_001040108.2(MLH3):c.1940G>A (p.Arg647His)
NM_001040108.2(MLH3):c.2128T>C (p.Leu710=)
NM_001040108.2(MLH3):c.2221G>A (p.Val741Ile)
NM_001040108.2(MLH3):c.2684G>A (p.Arg895His)
NM_001040108.2(MLH3):c.3465+14A>G
NM_001040108.2(MLH3):c.3644-13C>T
NM_001040108.2(MLH3):c.3689G>A (p.Arg1230His)
NM_001040108.2(MLH3):c.3751C>T (p.Arg1251Trp)
NM_001040108.2(MLH3):c.4239A>G (p.Lys1413=)
NM_001167617.2(MLH1):c.*158_*161GATT[1] rs796807655
NM_001167617.2(MLH1):c.*32_*34CTT[1] rs193922366
NM_001258281.1(MSH2):c.-130G>T rs587782786
NM_001258281.1(MSH2):c.-87G>A rs552303079
NM_001322007.1(PMS2):c.-261T>A rs765248325
NM_001322007.1(PMS2):c.-263C>A rs886062402
NM_001322007.1(PMS2):c.-268G>A
NM_002354.2(EPCAM):c.*147dup rs886056132
NM_002354.2(EPCAM):c.-192G>T rs376344699
NM_002354.2(EPCAM):c.-79C>T rs886056131
NM_014239.4(EIF2B2):c.*180G>C rs4556
NM_014239.4(EIF2B2):c.*3G>C rs112087431
NM_014239.4(EIF2B2):c.*56C>T rs116393177
NM_014381.3(MLH3):c.*1341del rs5809689
NM_014381.3(MLH3):c.*1701del rs886050770
NM_014381.3(MLH3):c.*3048del rs886050767
NM_014381.3(MLH3):c.*797dup rs886050773
NM_014381.3(MLH3):c.*957_*958delinsAT rs386778871
NM_014381.3(MLH3):c.-63-16dup rs886050781
NM_016467.5(ORMDL1):c.-118+190C>A rs5742926
NM_025133.4(FBXO11):c.*1173A>T rs2020906

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