NM_001023.4(RPS20):c.-6A>G
|
rs1128142
|
0.09443
|
NM_001040108.2(MLH3):c.2159A>G (p.Tyr720Cys)
|
rs28756988
|
0.02978
|
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)
|
rs28756990
|
0.02049
|
NM_001040108.2(MLH3):c.666G>A (p.Lys222=)
|
rs28756980
|
0.01977
|
NM_001040108.2(MLH3):c.444G>C (p.Val148=)
|
rs11556091
|
0.01944
|
NM_000251.3(MSH2):c.1077-10T>C
|
rs17224360
|
0.01428
|
NM_000534.5(PMS1):c.1181T>C (p.Met394Thr)
|
rs1145231
|
0.01309
|
NM_000534.5(PMS1):c.1501G>A (p.Gly501Arg)
|
rs1145232
|
0.01304
|
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln)
|
rs28756981
|
0.01278
|
NM_001040108.2(MLH3):c.2825C>T (p.Thr942Ile)
|
rs17102999
|
0.01049
|
NM_001040108.2(MLH3):c.8A>G (p.Lys3Arg)
|
rs114829239
|
0.00849
|
NM_000179.3(MSH6):c.*85T>A
|
rs2020906
|
0.00645
|
NM_001040108.2(MLH3):c.408T>C (p.Asp136=)
|
rs61755655
|
0.00552
|
NM_000534.5(PMS1):c.1643A>G (p.Lys548Arg)
|
rs61736576
|
0.00477
|
NM_001040108.2(MLH3):c.3987+15C>T
|
rs117251698
|
0.00472
|
NM_000535.7(PMS2):c.1266G>A (p.Glu422=)
|
rs138049175
|
0.00333
|
NM_001040108.2(MLH3):c.3315C>A (p.Asp1105Glu)
|
rs28757008
|
0.00323
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
NM_001040108.2(MLH3):c.3987+7C>A
|
rs28757028
|
0.00219
|
NM_001040108.2(MLH3):c.3644-13C>T
|
rs189760727
|
0.00199
|
NM_001040108.2(MLH3):c.2490T>G (p.Phe830Leu)
|
rs114015611
|
0.00177
|
NM_001040108.2(MLH3):c.1939C>T (p.Arg647Cys)
|
rs28756987
|
0.00171
|
NM_001040108.2(MLH3):c.-4T>G
|
rs28756977
|
0.00168
|
NM_001040108.2(MLH3):c.1799G>A (p.Arg600Gln)
|
rs28756984
|
0.00168
|
NM_001040108.2(MLH3):c.735C>T (p.Tyr245=)
|
rs111782152
|
0.00162
|
NM_001040108.2(MLH3):c.2924A>G (p.Asn975Ser)
|
rs141066164
|
0.00160
|
NM_001040108.2(MLH3):c.429G>A (p.Gly143=)
|
rs138943686
|
0.00160
|
NM_001040108.2(MLH3):c.2167G>A (p.Val723Ile)
|
rs28756989
|
0.00153
|
NM_000251.3(MSH2):c.1387-8G>T
|
rs187525243
|
0.00152
|
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)
|
rs149202766
|
0.00142
|
NM_001146227.3(RPS20):c.*14C>T
|
rs78022071
|
0.00137
|
NM_001040108.2(MLH3):c.3488G>A (p.Gly1163Asp)
|
rs28757011
|
0.00119
|
NM_001040108.2(MLH3):c.359T>C (p.Phe120Ser)
|
rs28756979
|
0.00113
|
NM_001040108.2(MLH3):c.3746C>T (p.Ser1249Phe)
|
rs139265757
|
0.00103
|
NM_001040108.2(MLH3):c.4351G>A (p.Glu1451Lys)
|
rs28939071
|
0.00103
|
NM_000179.3(MSH6):c.3172+20T>C
|
rs3136335
|
0.00100
|
NM_000535.7(PMS2):c.353+9A>C
|
rs139990791
|
0.00100
|
NM_000251.3(MSH2):c.819A>G (p.Val273=)
|
rs146577635
|
0.00094
|
NM_001040108.2(MLH3):c.423C>T (p.Ser141=)
|
rs142179277
|
0.00092
|
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro)
|
rs116349687
|
0.00082
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_000179.3(MSH6):c.1665A>G (p.Ala555=)
|
rs146785465
|
0.00066
|
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)
|
rs141711342
|
0.00063
|
NM_001040108.2(MLH3):c.-3A>G
|
rs146166860
|
0.00059
|
NM_000534.5(PMS1):c.224C>T (p.Thr75Ile)
|
rs61756360
|
0.00058
|
NM_001040108.2(MLH3):c.2043T>C (p.Tyr681=)
|
rs143573376
|
0.00056
|
NM_001040108.2(MLH3):c.1637G>T (p.Arg546Ile)
|
rs55725216
|
0.00048
|
NM_000179.3(MSH6):c.491A>C (p.His164Pro)
|
rs146469162
|
0.00045
|
NM_001040108.2(MLH3):c.837C>T (p.Cys279=)
|
rs149962294
|
0.00039
|
NM_001040108.2(MLH3):c.3344G>A (p.Arg1115Gln)
|
rs78311619
|
0.00038
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_001040108.2(MLH3):c.3440A>T (p.Asn1147Ile)
|
rs142124529
|
0.00035
|
NM_001040108.2(MLH3):c.4011+15T>G
|
rs139032600
|
0.00033
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00032
|
NM_001040108.2(MLH3):c.2180G>A (p.Ser727Asn)
|
rs116526686
|
0.00029
|
NM_001040108.2(MLH3):c.1168T>A (p.Phe390Ile)
|
rs61752721
|
0.00028
|
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)
|
rs63750702
|
0.00020
|
NM_000534.5(PMS1):c.2755C>T (p.Arg919Cys)
|
rs145103030
|
0.00020
|
NM_000535.7(PMS2):c.779C>T (p.Ser260Phe)
|
rs777286241
|
0.00020
|
NM_000179.3(MSH6):c.4001+11_4001+15dup
|
rs587779302
|
0.00019
|
NM_000179.3(MSH6):c.73G>T (p.Ala25Ser)
|
rs267608026
|
0.00019
|
NM_001040108.2(MLH3):c.2547T>C (p.Ser849=)
|
rs183078420
|
0.00018
|
NM_001040108.2(MLH3):c.3137G>A (p.Arg1046Gln)
|
rs201303087
|
0.00018
|
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn)
|
rs201541505
|
0.00017
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)
|
rs370196722
|
0.00016
|
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)
|
rs375968016
|
0.00016
|
NM_000251.3(MSH2):c.2537A>G (p.Gln846Arg)
|
rs140754514
|
0.00015
|
NM_000535.7(PMS2):c.1467G>A (p.Glu489=)
|
rs542522853
|
0.00015
|
NM_000251.3(MSH2):c.766G>A (p.Ala256Thr)
|
rs377403073
|
0.00014
|
NM_001040108.2(MLH3):c.3637G>A (p.Glu1213Lys)
|
rs140899869
|
0.00014
|
NM_001040108.2(MLH3):c.914T>C (p.Ile305Thr)
|
rs150796590
|
0.00014
|
NM_000251.3(MSH2):c.-3G>C
|
rs587779960
|
0.00013
|
NM_000535.7(PMS2):c.1864A>G (p.Met622Val)
|
rs370853512
|
0.00013
|
NM_000535.7(PMS2):c.240C>T (p.Phe80=)
|
rs143162541
|
0.00013
|
NM_000179.3(MSH6):c.1081C>T (p.Arg361Cys)
|
rs587782651
|
0.00012
|
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys)
|
rs376042544
|
0.00012
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00012
|
NM_000535.7(PMS2):c.2445G>A (p.Ser815=)
|
rs753199796
|
0.00012
|
NM_000535.7(PMS2):c.1533G>A (p.Thr511=)
|
rs542520309
|
0.00011
|
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)
|
rs63751023
|
0.00011
|
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)
|
rs372297364
|
0.00011
|
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)
|
rs542838372
|
0.00010
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00010
|
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg)
|
rs151251082
|
0.00010
|
NM_001040108.2(MLH3):c.2638C>G (p.Leu880Val)
|
rs201453923
|
0.00010
|
NM_000179.3(MSH6):c.3024C>T (p.Thr1008=)
|
rs587780675
|
0.00009
|
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)
|
rs1800938
|
0.00009
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00009
|
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly)
|
rs199876321
|
0.00008
|
NM_000179.3(MSH6):c.3264C>T (p.Phe1088=)
|
rs35621414
|
0.00008
|
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser)
|
rs375853155
|
0.00008
|
NM_000251.3(MSH2):c.2500G>A (p.Ala834Thr)
|
rs63750757
|
0.00008
|
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)
|
rs63751454
|
0.00008
|
NM_000535.7(PMS2):c.2127C>T (p.Phe709=)
|
rs199943748
|
0.00008
|
NM_000535.7(PMS2):c.993C>T (p.Cys331=)
|
rs186577215
|
0.00008
|
NM_001040108.2(MLH3):c.2356G>A (p.Val786Ile)
|
rs372089146
|
0.00008
|
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)
|
rs730881787
|
0.00007
|
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr)
|
rs202127474
|
0.00007
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00007
|
NM_000249.4(MLH1):c.69A>G (p.Glu23=)
|
rs63750555
|
0.00007
|
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)
|
rs267607939
|
0.00007
|
NM_000535.7(PMS2):c.2175-13T>C
|
rs748722013
|
0.00007
|
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met)
|
rs371673459
|
0.00007
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
NM_001040108.2(MLH3):c.3101C>G (p.Thr1034Ser)
|
rs557921152
|
0.00007
|
NM_001040108.2(MLH3):c.330G>A (p.Ser110=)
|
rs189749330
|
0.00007
|
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)
|
rs61753793
|
0.00006
|
NM_000179.3(MSH6):c.178T>C (p.Leu60=)
|
rs35819209
|
0.00006
|
NM_000179.3(MSH6):c.3283C>T (p.Arg1095Cys)
|
rs376243329
|
0.00006
|
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)
|
rs376799914
|
0.00006
|
NM_000179.3(MSH6):c.3824G>A (p.Cys1275Tyr)
|
rs150990541
|
0.00006
|
NM_000179.3(MSH6):c.831A>C (p.Glu277Asp)
|
rs374486449
|
0.00006
|
NM_000249.4(MLH1):c.1908G>A (p.Leu636=)
|
rs1800145
|
0.00006
|
NM_000249.4(MLH1):c.453G>A (p.Thr151=)
|
rs369521379
|
0.00006
|
NM_000251.3(MSH2):c.1321A>C (p.Thr441Pro)
|
rs587779086
|
0.00006
|
NM_000251.3(MSH2):c.2503A>C (p.Asn835His)
|
rs41295296
|
0.00006
|
NM_000535.7(PMS2):c.1500C>T (p.Ser500=)
|
rs116094787
|
0.00006
|
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln)
|
rs587781909
|
0.00006
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
NM_001040108.2(MLH3):c.3312C>T (p.Ser1104=)
|
rs149369905
|
0.00006
|
NM_001040108.2(MLH3):c.3716-4A>G
|
rs777308221
|
0.00006
|
NM_000179.3(MSH6):c.2239C>T (p.Leu747=)
|
rs63751305
|
0.00005
|
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)
|
rs63749834
|
0.00005
|
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)
|
rs63750430
|
0.00005
|
NM_000251.3(MSH2):c.2211-6C>A
|
rs267608003
|
0.00005
|
NM_000251.3(MSH2):c.843A>T (p.Ser281=)
|
rs150197753
|
0.00005
|
NM_000535.7(PMS2):c.-4A>G
|
rs544503598
|
0.00005
|
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser)
|
rs376258383
|
0.00005
|
NM_000535.7(PMS2):c.738C>G (p.Pro246=)
|
rs202094399
|
0.00005
|
NM_001040108.2(MLH3):c.2964C>G (p.Ile988Met)
|
rs201936675
|
0.00005
|
NM_001040108.2(MLH3):c.3539G>A (p.Arg1180His)
|
rs377022215
|
0.00005
|
NM_001040108.2(MLH3):c.873T>G (p.Asn291Lys)
|
rs767413852
|
0.00005
|
NM_002354.3(EPCAM):c.232C>G (p.Leu78Val)
|
rs587780763
|
0.00005
|
NM_000179.3(MSH6):c.1974G>A (p.Val658=)
|
rs372916347
|
0.00004
|
NM_000179.3(MSH6):c.2017C>G (p.Pro673Ala)
|
rs377356882
|
0.00004
|
NM_000179.3(MSH6):c.242C>T (p.Ala81Val)
|
rs587779924
|
0.00004
|
NM_000179.3(MSH6):c.2850C>T (p.Ser950=)
|
rs571394629
|
0.00004
|
NM_000179.3(MSH6):c.749T>C (p.Val250Ala)
|
rs587781275
|
0.00004
|
NM_000249.4(MLH1):c.1269G>A (p.Arg423=)
|
rs373076967
|
0.00004
|
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr)
|
rs377433038
|
0.00004
|
NM_000249.4(MLH1):c.1284T>C (p.Asp428=)
|
rs772555970
|
0.00004
|
NM_000249.4(MLH1):c.1474G>A (p.Ala492Thr)
|
rs63751145
|
0.00004
|
NM_000249.4(MLH1):c.1633A>G (p.Thr545Ala)
|
rs267607840
|
0.00004
|
NM_000251.3(MSH2):c.1813G>T (p.Val605Phe)
|
rs730881777
|
0.00004
|
NM_000251.3(MSH2):c.183G>T (p.Gln61His)
|
rs751082926
|
0.00004
|
NM_000251.3(MSH2):c.607G>A (p.Gly203Arg)
|
rs587779973
|
0.00004
|
NM_000535.7(PMS2):c.*17G>C
|
rs556089649
|
0.00004
|
NM_000535.7(PMS2):c.12T>G (p.Ala4=)
|
rs776136427
|
0.00004
|
NM_000535.7(PMS2):c.1489G>A (p.Gly497Ser)
|
rs749826312
|
0.00004
|
NM_000535.7(PMS2):c.1501G>A (p.Val501Met)
|
rs540287433
|
0.00004
|
NM_000535.7(PMS2):c.166C>G (p.Leu56Val)
|
rs371011390
|
0.00004
|
NM_000535.7(PMS2):c.1806C>G (p.Ala602=)
|
rs376046767
|
0.00004
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)
|
rs553286217
|
0.00004
|
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu)
|
rs587780060
|
0.00004
|
NM_000535.7(PMS2):c.705+12C>T
|
rs368486366
|
0.00004
|
NM_001040108.2(MLH3):c.1940G>A (p.Arg647His)
|
rs61755653
|
0.00004
|
NM_001040108.2(MLH3):c.2752G>T (p.Asp918Tyr)
|
rs762167939
|
0.00004
|
NM_001040108.2(MLH3):c.3280+10T>C
|
rs755892150
|
0.00004
|
NM_001040108.2(MLH3):c.3406G>A (p.Glu1136Lys)
|
rs113490514
|
0.00004
|
NM_001040108.2(MLH3):c.4032C>T (p.Gly1344=)
|
rs565238806
|
0.00004
|
NM_000179.3(MSH6):c.-2G>T
|
rs374748889
|
0.00003
|
NM_000179.3(MSH6):c.1043C>T (p.Ser348Phe)
|
rs758432113
|
0.00003
|
NM_000179.3(MSH6):c.1053C>T (p.His351=)
|
rs28903083
|
0.00003
|
NM_000179.3(MSH6):c.1167C>T (p.Pro389=)
|
rs1042819
|
0.00003
|
NM_000179.3(MSH6):c.1739C>T (p.Ser580Leu)
|
rs41295270
|
0.00003
|
NM_000179.3(MSH6):c.1822A>G (p.Ile608Val)
|
rs201613780
|
0.00003
|
NM_000179.3(MSH6):c.1917G>A (p.Glu639=)
|
rs368059229
|
0.00003
|
NM_000179.3(MSH6):c.2156C>T (p.Thr719Ile)
|
rs373418713
|
0.00003
|
NM_000179.3(MSH6):c.240A>G (p.Val80=)
|
rs864622281
|
0.00003
|
NM_000179.3(MSH6):c.2818G>T (p.Ala940Ser)
|
rs772978164
|
0.00003
|
NM_000179.3(MSH6):c.2904C>G (p.Val968=)
|
rs150683226
|
0.00003
|
NM_000179.3(MSH6):c.3197A>G (p.Tyr1066Cys)
|
rs372103816
|
0.00003
|
NM_000179.3(MSH6):c.3384T>C (p.Tyr1128=)
|
rs544518097
|
0.00003
|
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=)
|
rs747771350
|
0.00003
|
NM_000179.3(MSH6):c.3543C>G (p.Asp1181Glu)
|
rs267608100
|
0.00003
|
NM_000179.3(MSH6):c.3703C>G (p.Leu1235Val)
|
rs876661084
|
0.00003
|
NM_000179.3(MSH6):c.393A>C (p.Val131=)
|
rs752488540
|
0.00003
|
NM_000179.3(MSH6):c.3979A>T (p.Asn1327Tyr)
|
rs756216566
|
0.00003
|
NM_000249.4(MLH1):c.1743G>A (p.Pro581=)
|
rs567838745
|
0.00003
|
NM_000249.4(MLH1):c.2038T>G (p.Cys680Gly)
|
rs63750809
|
0.00003
|
NM_000249.4(MLH1):c.9C>G (p.Phe3Leu)
|
rs779759678
|
0.00003
|
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)
|
rs56170584
|
0.00003
|
NM_000251.3(MSH2):c.1601G>A (p.Arg534His)
|
rs587778523
|
0.00003
|
NM_000251.3(MSH2):c.1617T>C (p.Phe539=)
|
rs730881759
|
0.00003
|
NM_000251.3(MSH2):c.1837A>C (p.Asn613His)
|
rs200147804
|
0.00003
|
NM_000251.3(MSH2):c.2528G>A (p.Cys843Tyr)
|
rs747700106
|
0.00003
|
NM_000251.3(MSH2):c.2801C>A (p.Thr934Lys)
|
rs587779969
|
0.00003
|
NM_000251.3(MSH2):c.336C>A (p.Ser112=)
|
rs34312619
|
0.00003
|
NM_000251.3(MSH2):c.594A>G (p.Glu198=)
|
rs369685768
|
0.00003
|
NM_000535.7(PMS2):c.1096G>C (p.Asp366His)
|
rs141769057
|
0.00003
|
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg)
|
rs146848345
|
0.00003
|
NM_000535.7(PMS2):c.1616C>T (p.Ala539Val)
|
rs138222146
|
0.00003
|
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)
|
rs587780045
|
0.00003
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp)
|
rs573374779
|
0.00003
|
NM_000535.7(PMS2):c.751G>A (p.Val251Met)
|
rs142434011
|
0.00003
|
NM_000535.7(PMS2):c.903+4T>A
|
rs753803330
|
0.00003
|
NM_001040108.2(MLH3):c.1017C>T (p.Cys339=)
|
rs368126670
|
0.00003
|
NM_001040108.2(MLH3):c.1156G>A (p.Glu386Lys)
|
rs142081869
|
0.00003
|
NM_001040108.2(MLH3):c.1619A>G (p.Asn540Ser)
|
rs768855148
|
0.00003
|
NM_001040108.2(MLH3):c.2362C>A (p.Pro788Thr)
|
rs758319075
|
0.00003
|
NM_001040108.2(MLH3):c.3103G>A (p.Glu1035Lys)
|
rs143865811
|
0.00003
|
NM_003242.6(TGFBR2):c.569G>A (p.Arg190His)
|
rs780542125
|
0.00003
|
NM_000179.3(MSH6):c.1501C>T (p.His501Tyr)
|
rs779411998
|
0.00002
|
NM_000179.3(MSH6):c.2006T>C (p.Ile669Thr)
|
rs555209664
|
0.00002
|
NM_000179.3(MSH6):c.204G>A (p.Lys68=)
|
rs864622565
|
0.00002
|
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys)
|
rs587779923
|
0.00002
|
NM_000179.3(MSH6):c.25A>G (p.Ser9Gly)
|
rs41294986
|
0.00002
|
NM_000179.3(MSH6):c.2830A>G (p.Ile944Val)
|
rs878853723
|
0.00002
|
NM_000179.3(MSH6):c.2950A>C (p.Asn984His)
|
rs146359682
|
0.00002
|
NM_000179.3(MSH6):c.321T>C (p.Pro107=)
|
rs730881823
|
0.00002
|
NM_000179.3(MSH6):c.3300G>A (p.Thr1100=)
|
rs540252208
|
0.00002
|
NM_000179.3(MSH6):c.3420G>A (p.Lys1140=)
|
rs754435507
|
0.00002
|
NM_000179.3(MSH6):c.3698A>C (p.Lys1233Thr)
|
rs766557450
|
0.00002
|
NM_000179.3(MSH6):c.3801+4T>C
|
rs758830540
|
0.00002
|
NM_000179.3(MSH6):c.3832C>A (p.Pro1278Thr)
|
rs587782109
|
0.00002
|
NM_000179.3(MSH6):c.3979A>C (p.Asn1327His)
|
rs756216566
|
0.00002
|
NM_000179.3(MSH6):c.899G>A (p.Arg300Gln)
|
rs55760494
|
0.00002
|
NM_000179.3(MSH6):c.957G>C (p.Thr319=)
|
rs375210430
|
0.00002
|
NM_000249.4(MLH1):c.1243G>A (p.Asp415Asn)
|
rs373767220
|
0.00002
|
NM_000249.4(MLH1):c.303T>G (p.Gly101=)
|
rs4647220
|
0.00002
|
NM_000249.4(MLH1):c.479C>T (p.Ala160Val)
|
rs63749924
|
0.00002
|
NM_000249.4(MLH1):c.790C>T (p.His264Tyr)
|
rs63751597
|
0.00002
|
NM_000249.4(MLH1):c.974G>A (p.Arg325Gln)
|
rs63750268
|
0.00002
|
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu)
|
rs374135434
|
0.00002
|
NM_000251.3(MSH2):c.1401A>G (p.Glu467=)
|
rs1558508085
|
0.00002
|
NM_000251.3(MSH2):c.1681G>A (p.Glu561Lys)
|
rs63750328
|
0.00002
|
NM_000251.3(MSH2):c.2009C>T (p.Pro670Leu)
|
rs41294982
|
0.00002
|
NM_000251.3(MSH2):c.2061C>G (p.Leu687=)
|
rs63750032
|
0.00002
|
NM_000251.3(MSH2):c.220A>C (p.Asn74His)
|
rs150548839
|
0.00002
|
NM_000251.3(MSH2):c.2459-9T>C
|
rs776644342
|
0.00002
|
NM_000251.3(MSH2):c.2621A>G (p.Tyr874Cys)
|
rs775390721
|
0.00002
|
NM_000251.3(MSH2):c.581T>C (p.Ile194Thr)
|
rs730881778
|
0.00002
|
NM_000251.3(MSH2):c.894G>C (p.Gln298His)
|
rs587781397
|
0.00002
|
NM_000535.7(PMS2):c.1170G>A (p.Ala390=)
|
rs755578413
|
0.00002
|
NM_000535.7(PMS2):c.1344A>T (p.Gly448=)
|
rs759192470
|
0.00002
|
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)
|
rs63750451
|
0.00002
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
0.00002
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser)
|
rs767775907
|
0.00002
|
NM_000535.7(PMS2):c.964G>A (p.Val322Ile)
|
rs587782208
|
0.00002
|
NM_001040108.2(MLH3):c.867A>G (p.Gln289=)
|
rs773294144
|
0.00002
|
NM_000179.3(MSH6):c.*11T>C
|
rs757708396
|
0.00001
|
NM_000179.3(MSH6):c.1078A>G (p.Ser360Gly)
|
rs145994565
|
0.00001
|
NM_000179.3(MSH6):c.1090G>A (p.Val364Ile)
|
rs1437629945
|
0.00001
|
NM_000179.3(MSH6):c.1153A>C (p.Arg385=)
|
rs781652274
|
0.00001
|
NM_000179.3(MSH6):c.1189T>C (p.Tyr397His)
|
rs587779913
|
0.00001
|
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)
|
rs63750065
|
0.00001
|
NM_000179.3(MSH6):c.1273A>G (p.Ile425Val)
|
rs63749971
|
0.00001
|
NM_000179.3(MSH6):c.131C>T (p.Pro44Leu)
|
rs863224615
|
0.00001
|
NM_000179.3(MSH6):c.1339C>T (p.Leu447=)
|
rs369709529
|
0.00001
|
NM_000179.3(MSH6):c.133G>C (p.Gly45Arg)
|
rs978968846
|
0.00001
|
NM_000179.3(MSH6):c.1347G>A (p.Leu449=)
|
rs786201760
|
0.00001
|
NM_000179.3(MSH6):c.1403G>A (p.Arg468His)
|
rs41295268
|
0.00001
|
NM_000179.3(MSH6):c.148T>C (p.Trp50Arg)
|
rs374597395
|
0.00001
|
NM_000179.3(MSH6):c.14G>C (p.Ser5Thr)
|
rs532585602
|
0.00001
|
NM_000179.3(MSH6):c.1554C>T (p.Thr518=)
|
rs786201471
|
0.00001
|
NM_000179.3(MSH6):c.1661G>A (p.Arg554His)
|
rs730881791
|
0.00001
|
NM_000179.3(MSH6):c.1668T>C (p.Tyr556=)
|
rs730882130
|
0.00001
|
NM_000179.3(MSH6):c.1677C>T (p.Cys559=)
|
rs63749893
|
0.00001
|
NM_000179.3(MSH6):c.1698A>C (p.Gly566=)
|
rs764818222
|
0.00001
|
NM_000179.3(MSH6):c.1900T>C (p.Leu634=)
|
rs876658471
|
0.00001
|
NM_000179.3(MSH6):c.194C>T (p.Ser65Leu)
|
rs41294984
|
0.00001
|
NM_000179.3(MSH6):c.1983T>C (p.Gly661=)
|
rs1411415960
|
0.00001
|
NM_000179.3(MSH6):c.2027A>G (p.Lys676Arg)
|
rs143643688
|
0.00001
|
NM_000179.3(MSH6):c.208A>G (p.Lys70Glu)
|
rs863224621
|
0.00001
|
NM_000179.3(MSH6):c.2107A>G (p.Met703Val)
|
rs751867550
|
0.00001
|
NM_000179.3(MSH6):c.2141C>G (p.Ser714Cys)
|
rs730881796
|
0.00001
|
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)
|
rs63751127
|
0.00001
|
NM_000179.3(MSH6):c.2223C>T (p.Asn741=)
|
rs769668640
|
0.00001
|
NM_000179.3(MSH6):c.2295C>T (p.Cys765=)
|
rs63750985
|
0.00001
|
NM_000179.3(MSH6):c.2300C>G (p.Thr767Ser)
|
rs587781462
|
0.00001
|
NM_000179.3(MSH6):c.2409C>G (p.Asp803Glu)
|
rs1434270332
|
0.00001
|
NM_000179.3(MSH6):c.2436A>G (p.Leu812=)
|
rs897288945
|
0.00001
|
NM_000179.3(MSH6):c.2525C>G (p.Ala842Gly)
|
rs876660180
|
0.00001
|
NM_000179.3(MSH6):c.2630A>G (p.Glu877Gly)
|
rs1060502873
|
0.00001
|
NM_000179.3(MSH6):c.2702G>A (p.Arg901His)
|
rs63749889
|
0.00001
|
NM_000179.3(MSH6):c.2775A>G (p.Gly925=)
|
rs587779248
|
0.00001
|
NM_000179.3(MSH6):c.2781T>G (p.Ile927Met)
|
rs771575217
|
0.00001
|
NM_000179.3(MSH6):c.2825C>T (p.Ala942Val)
|
rs760406178
|
0.00001
|
NM_000179.3(MSH6):c.2827G>T (p.Asp943Tyr)
|
rs143520357
|
0.00001
|
NM_000179.3(MSH6):c.2910G>C (p.Trp970Cys)
|
rs765411990
|
0.00001
|
NM_000179.3(MSH6):c.2949G>C (p.Glu983Asp)
|
rs780485157
|
0.00001
|
NM_000179.3(MSH6):c.2959A>G (p.Thr987Ala)
|
rs746631156
|
0.00001
|
NM_000179.3(MSH6):c.2962C>T (p.Arg988Cys)
|
rs61753795
|
0.00001
|
NM_000179.3(MSH6):c.2992T>A (p.Ser998Thr)
|
rs730881800
|
0.00001
|
NM_000179.3(MSH6):c.3062C>G (p.Ala1021Gly)
|
rs63750287
|
0.00001
|
NM_000179.3(MSH6):c.3084A>T (p.Ser1028=)
|
rs786201843
|
0.00001
|
NM_000179.3(MSH6):c.3113A>G (p.Tyr1038Cys)
|
rs773357672
|
0.00001
|
NM_000179.3(MSH6):c.3256C>T (p.Pro1086Ser)
|
rs756108143
|
0.00001
|
NM_000179.3(MSH6):c.3313G>A (p.Gly1105Arg)
|
rs755716475
|
0.00001
|
NM_000179.3(MSH6):c.333C>T (p.Tyr111=)
|
rs786202772
|
0.00001
|
NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly)
|
rs587782625
|
0.00001
|
NM_000179.3(MSH6):c.3560A>G (p.Glu1187Gly)
|
rs150632241
|
0.00001
|
NM_000179.3(MSH6):c.3605T>C (p.Met1202Thr)
|
rs587779273
|
0.00001
|
NM_000179.3(MSH6):c.3607C>A (p.His1203Asn)
|
rs876660882
|
0.00001
|
NM_000179.3(MSH6):c.3619C>G (p.His1207Asp)
|
rs760391254
|
0.00001
|
NM_000179.3(MSH6):c.3647-7T>G
|
rs780269667
|
0.00001
|
NM_000179.3(MSH6):c.3675G>A (p.Thr1225=)
|
rs730881820
|
0.00001
|
NM_000179.3(MSH6):c.3685A>C (p.Asn1229His)
|
rs774249402
|
0.00001
|
NM_000179.3(MSH6):c.3742C>T (p.His1248Tyr)
|
rs63750882
|
0.00001
|
NM_000179.3(MSH6):c.3980A>G (p.Asn1327Ser)
|
rs780187989
|
0.00001
|
NM_000179.3(MSH6):c.4002-4T>C
|
rs370428032
|
0.00001
|
NM_000179.3(MSH6):c.4043A>C (p.Glu1348Ala)
|
rs1449733937
|
0.00001
|
NM_000179.3(MSH6):c.412C>T (p.Pro138Ser)
|
rs1668700091
|
0.00001
|
NM_000179.3(MSH6):c.435A>C (p.Lys145Asn)
|
rs1321666742
|
0.00001
|
NM_000179.3(MSH6):c.440T>G (p.Leu147Arg)
|
rs63750525
|
0.00001
|
NM_000179.3(MSH6):c.487G>A (p.Gly163Ser)
|
rs776065389
|
0.00001
|
NM_000179.3(MSH6):c.596C>T (p.Pro199Leu)
|
rs587782315
|
0.00001
|
NM_000179.3(MSH6):c.609A>G (p.Glu203=)
|
rs536686679
|
0.00001
|
NM_000179.3(MSH6):c.682G>A (p.Glu228Lys)
|
rs587779947
|
0.00001
|
NM_000179.3(MSH6):c.854G>T (p.Ser285Ile)
|
rs63750878
|
0.00001
|
NM_000179.3(MSH6):c.87C>G (p.Arg29=)
|
rs778354962
|
0.00001
|
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)
|
rs146816935
|
0.00001
|
NM_000179.3(MSH6):c.910G>A (p.Val304Met)
|
rs876661207
|
0.00001
|
NM_000179.3(MSH6):c.947G>A (p.Arg316Lys)
|
rs562487553
|
0.00001
|
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile)
|
rs587781983
|
0.00001
|
NM_000249.4(MLH1):c.1038+9G>A
|
rs267607817
|
0.00001
|
NM_000249.4(MLH1):c.1039-5T>C
|
rs587782626
|
0.00001
|
NM_000249.4(MLH1):c.1090A>G (p.Thr364Ala)
|
rs63749864
|
0.00001
|
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)
|
rs766904735
|
0.00001
|
NM_000249.4(MLH1):c.116+14C>G
|
rs773103242
|
0.00001
|
NM_000249.4(MLH1):c.1207C>T (p.Pro403Ser)
|
rs587778897
|
0.00001
|
NM_000249.4(MLH1):c.1277A>T (p.Gln426Leu)
|
rs876659252
|
0.00001
|
NM_000249.4(MLH1):c.1282G>A (p.Asp428Asn)
|
rs989382971
|
0.00001
|
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp)
|
rs587779952
|
0.00001
|
NM_000249.4(MLH1):c.1348G>T (p.Asp450Tyr)
|
rs752622244
|
0.00001
|
NM_000249.4(MLH1):c.1359G>C (p.Lys453Asn)
|
rs756099600
|
0.00001
|
NM_000249.4(MLH1):c.1521G>C (p.Leu507Phe)
|
rs863224633
|
0.00001
|
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe)
|
rs786202693
|
0.00001
|
NM_000249.4(MLH1):c.1693A>T (p.Ile565Phe)
|
rs63750062
|
0.00001
|
NM_000249.4(MLH1):c.1698T>C (p.Tyr566=)
|
rs876658915
|
0.00001
|
NM_000249.4(MLH1):c.1770A>C (p.Leu590Phe)
|
rs769239969
|
0.00001
|
NM_000249.4(MLH1):c.2135G>T (p.Trp712Leu)
|
rs63750561
|
0.00001
|
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)
|
rs63751221
|
0.00001
|
NM_000249.4(MLH1):c.306+4A>G
|
rs267607733
|
0.00001
|
NM_000249.4(MLH1):c.319A>G (p.Ile107Val)
|
rs572906317
|
0.00001
|
NM_000249.4(MLH1):c.351G>A (p.Thr117=)
|
rs61751643
|
0.00001
|
NM_000249.4(MLH1):c.462C>T (p.Asp154=)
|
rs192938577
|
0.00001
|
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu)
|
rs587779029
|
0.00001
|
NM_000249.4(MLH1):c.636C>T (p.Thr212=)
|
rs138735345
|
0.00001
|
NM_000249.4(MLH1):c.739T>G (p.Ser247Ala)
|
rs63750948
|
0.00001
|
NM_000249.4(MLH1):c.918T>C (p.Asn306=)
|
rs587779054
|
0.00001
|
NM_000249.4(MLH1):c.963_1014dup (p.Ser339fs)
|
rs1553648058
|
0.00001
|
NM_000249.4(MLH1):c.978G>A (p.Val326=)
|
rs1553648104
|
0.00001
|
NM_000251.3(MSH2):c.-78T>A
|
rs876658616
|
0.00001
|
NM_000251.3(MSH2):c.1221C>G (p.Leu407=)
|
rs63750813
|
0.00001
|
NM_000251.3(MSH2):c.1270C>T (p.His424Tyr)
|
rs587782278
|
0.00001
|
NM_000251.3(MSH2):c.1485A>G (p.Thr495=)
|
rs767039383
|
0.00001
|
NM_000251.3(MSH2):c.1597C>G (p.Leu533Val)
|
rs786202987
|
0.00001
|
NM_000251.3(MSH2):c.159C>T (p.Ala53=)
|
rs780178752
|
0.00001
|
NM_000251.3(MSH2):c.1619G>C (p.Ser540Thr)
|
rs1553366622
|
0.00001
|
NM_000251.3(MSH2):c.1898T>C (p.Ile633Thr)
|
rs864622093
|
0.00001
|
NM_000251.3(MSH2):c.1907C>T (p.Ala636Val)
|
rs63750279
|
0.00001
|
NM_000251.3(MSH2):c.2082T>C (p.Phe694=)
|
rs748210094
|
0.00001
|
NM_000251.3(MSH2):c.2224G>A (p.Asp742Asn)
|
rs879254183
|
0.00001
|
NM_000251.3(MSH2):c.2248T>C (p.Leu750=)
|
rs527725593
|
0.00001
|
NM_000251.3(MSH2):c.2439G>A (p.Met813Ile)
|
rs587781678
|
0.00001
|
NM_000251.3(MSH2):c.2525A>T (p.Glu842Val)
|
rs373393954
|
0.00001
|
NM_000251.3(MSH2):c.2542G>T (p.Ala848Ser)
|
rs746972142
|
0.00001
|
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu)
|
rs63750849
|
0.00001
|
NM_000251.3(MSH2):c.2649T>G (p.Ile883Met)
|
rs768983827
|
0.00001
|
NM_000251.3(MSH2):c.364A>G (p.Lys122Glu)
|
rs374127044
|
0.00001
|
NM_000251.3(MSH2):c.439G>A (p.Val147Ile)
|
rs773125415
|
0.00001
|
NM_000251.3(MSH2):c.45C>T (p.Ala15=)
|
rs876659170
|
0.00001
|
NM_000251.3(MSH2):c.566C>G (p.Ala189Gly)
|
rs141021599
|
0.00001
|
NM_000251.3(MSH2):c.668T>C (p.Leu223Pro)
|
rs1060501992
|
0.00001
|
NM_000251.3(MSH2):c.701C>T (p.Thr234Ile)
|
rs730881773
|
0.00001
|
NM_000251.3(MSH2):c.70C>G (p.Gln24Glu)
|
rs587779976
|
0.00001
|
NM_000251.3(MSH2):c.893A>G (p.Gln298Arg)
|
rs267607998
|
0.00001
|
NM_000251.3(MSH2):c.933C>A (p.Asn311Lys)
|
rs1060504424
|
0.00001
|
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser)
|
rs779673318
|
0.00001
|
NM_000251.3(MSH2):c.996G>A (p.Lys332=)
|
rs863224343
|
0.00001
|
NM_000534.5(PMS1):c.1241G>A (p.Gly414Asp)
|
rs745523368
|
0.00001
|
NM_000535.7(PMS2):c.113C>T (p.Ala38Val)
|
rs148270248
|
0.00001
|
NM_000535.7(PMS2):c.114G>A (p.Ala38=)
|
rs558032755
|
0.00001
|
NM_000535.7(PMS2):c.1262G>A (p.Arg421Gln)
|
rs778482303
|
0.00001
|
NM_000535.7(PMS2):c.1305C>T (p.His435=)
|
rs763954903
|
0.00001
|
NM_000535.7(PMS2):c.1329A>T (p.Arg443Ser)
|
rs192720342
|
0.00001
|
NM_000535.7(PMS2):c.1384A>G (p.Ile462Val)
|
rs200116037
|
0.00001
|
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser)
|
rs373114291
|
0.00001
|
NM_000535.7(PMS2):c.1455G>A (p.Thr485=)
|
rs752665758
|
0.00001
|
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val)
|
rs587779328
|
0.00001
|
NM_000535.7(PMS2):c.1551C>A (p.Ser517Arg)
|
rs587782479
|
0.00001
|
NM_000535.7(PMS2):c.1674C>T (p.Thr558=)
|
rs876658134
|
0.00001
|
NM_000535.7(PMS2):c.1682A>C (p.Lys561Thr)
|
rs876658481
|
0.00001
|
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile)
|
rs63750947
|
0.00001
|
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn)
|
rs762100304
|
0.00001
|
NM_000535.7(PMS2):c.1765G>C (p.Asp589His)
|
rs749727182
|
0.00001
|
NM_000535.7(PMS2):c.1819G>A (p.Val607Ile)
|
rs786204109
|
0.00001
|
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys)
|
rs886062400
|
0.00001
|
NM_000535.7(PMS2):c.1931A>G (p.Asn644Ser)
|
rs267608166
|
0.00001
|
NM_000535.7(PMS2):c.2035A>G (p.Ile679Val)
|
rs587780047
|
0.00001
|
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr)
|
rs778251286
|
0.00001
|
NM_000535.7(PMS2):c.23+9G>A
|
rs1046717239
|
0.00001
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln)
|
rs1060503143
|
0.00001
|
NM_000535.7(PMS2):c.244G>A (p.Gly82Ser)
|
rs754191682
|
0.00001
|
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)
|
rs188006077
|
0.00001
|
NM_000535.7(PMS2):c.33T>A (p.Pro11=)
|
rs780178572
|
0.00001
|
NM_000535.7(PMS2):c.354-5C>G
|
rs200591010
|
0.00001
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
0.00001
|
NM_000535.7(PMS2):c.598G>A (p.Val200Ile)
|
rs587778620
|
0.00001
|
NM_000535.7(PMS2):c.615G>T (p.Gln205His)
|
rs752499497
|
0.00001
|
NM_000535.7(PMS2):c.630A>G (p.Lys210=)
|
rs765847615
|
0.00001
|
NM_000535.7(PMS2):c.737C>G (p.Pro246Arg)
|
rs1562670885
|
0.00001
|
NM_000535.7(PMS2):c.750C>T (p.Ser250=)
|
rs200439295
|
0.00001
|
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr)
|
rs775445157
|
0.00001
|
NM_000535.7(PMS2):c.795T>C (p.Asn265=)
|
rs766667186
|
0.00001
|
NM_000535.7(PMS2):c.880C>T (p.Arg294Trp)
|
rs563433235
|
0.00001
|
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln)
|
rs373239341
|
0.00001
|
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln)
|
rs375507981
|
0.00001
|
NM_000535.7(PMS2):c.903+2T>C
|
rs878854059
|
0.00001
|
NM_000535.7(PMS2):c.962T>C (p.Val321Ala)
|
rs186448384
|
0.00001
|
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)
|
rs587782852
|
0.00001
|
NM_001040108.2(MLH3):c.1002C>T (p.Asp334=)
|
rs764046706
|
0.00001
|
NM_001040108.2(MLH3):c.1152C>T (p.Ser384=)
|
rs752741447
|
0.00001
|
NM_001040108.2(MLH3):c.1330G>C (p.Glu444Gln)
|
rs760258078
|
0.00001
|
NM_001040108.2(MLH3):c.1432G>A (p.Ala478Thr)
|
rs201071230
|
0.00001
|
NM_001040108.2(MLH3):c.1618A>T (p.Asn540Tyr)
|
rs774449341
|
0.00001
|
NM_001040108.2(MLH3):c.1688A>G (p.Gln563Arg)
|
rs777324118
|
0.00001
|
NM_001040108.2(MLH3):c.2905C>T (p.Pro969Ser)
|
rs759555217
|
0.00001
|
NM_001040108.2(MLH3):c.3045C>A (p.Asp1015Glu)
|
rs771541032
|
0.00001
|
NM_001040108.2(MLH3):c.3410C>T (p.Ser1137Leu)
|
rs781462940
|
0.00001
|
NM_001040108.2(MLH3):c.3658G>A (p.Val1220Met)
|
rs560775993
|
0.00001
|
NM_001040108.2(MLH3):c.365A>G (p.Lys122Arg)
|
rs762453215
|
0.00001
|
NM_001040108.2(MLH3):c.3716-10C>T
|
rs374204567
|
0.00001
|
NM_001040108.2(MLH3):c.3880A>G (p.Thr1294Ala)
|
rs1386608856
|
0.00001
|
NM_001040108.2(MLH3):c.880C>G (p.Leu294Val)
|
rs372192067
|
0.00001
|
NC_000002.11:g.(?_47596646)_(47596720_?)dup
|
|
|
NC_000002.11:g.(?_47612305)_(47613752_?)dup
|
|
|
NC_000002.11:g.(?_47617224)_(47617297_?)del
|
|
|
NC_000002.11:g.(?_47622043)_(47627579_?)dup
|
|
|
NC_000002.11:g.(?_47637234)_(47637512_?)del
|
|
|
NC_000002.11:g.47630331_47643568dup
|
|
|
NC_000002.12:g.(?_47482779)_(47482949_?)del
|
|
|
NC_000002.12:g.107580437_107580438del
|
|
|
NC_000002.12:g.47806204_47806642del
|
|
|
NC_000002.12:g.47806204_47806860del
|
|
|
NC_000003.11:g.(?_37081677)_(37083822_?)del
|
|
|
NC_000003.11:g.37050307_37067500dup
|
|
|
NC_000003.11:g.37061785_37088541delinsTATTTTTC
|
|
|
NC_000003.12:g.48091287_48091298del
|
|
|
NC_000007.13:g.(?_6013030)_(6048650_?)dup
|
|
|
NC_000007.13:g.(?_6042084)_(6048650_?)del
|
|
|
NC_000007.13:g.6013030_6043689del
|
|
|
NM_000179.2(MSH6):c.3439-?_3556+?del
|
|
|
NM_000179.2(MSH6):c.458-?_3556+?del
|
|
|
NM_000179.2(MSH6):c.458-?_627+?del
|
|
|
NM_000179.3(MSH6):c.-5T>C
|
rs1572697690
|
|
NM_000179.3(MSH6):c.1028C>G (p.Pro343Arg)
|
rs548898238
|
|
NM_000179.3(MSH6):c.103G>C (p.Ala35Pro)
|
|
|
NM_000179.3(MSH6):c.1134_1135del (p.Arg379_Asp380insTer)
|
rs876660549
|
|
NM_000179.3(MSH6):c.115G>C (p.Gly39Arg)
|
rs751838296
|
|
NM_000179.3(MSH6):c.1190A>C (p.Tyr397Ser)
|
rs63750065
|
|
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)
|
rs63750439
|
|
NM_000179.3(MSH6):c.1200G>A (p.Glu400=)
|
rs536884553
|
|
NM_000179.3(MSH6):c.120C>T (p.Ala40=)
|
rs777101467
|
|
NM_000179.3(MSH6):c.1264G>A (p.Asp422Asn)
|
rs1423874192
|
|
NM_000179.3(MSH6):c.1296T>G (p.Phe432Leu)
|
rs863224614
|
|
NM_000179.3(MSH6):c.1462A>G (p.Thr488Ala)
|
rs776959327
|
|
NM_000179.3(MSH6):c.146C>T (p.Ala49Val)
|
rs775498550
|
|
NM_000179.3(MSH6):c.1471ATG[1] (p.Met492del)
|
rs587782576
|
|
NM_000179.3(MSH6):c.1475T>C (p.Met492Thr)
|
rs1558661808
|
|
NM_000179.3(MSH6):c.1500A>T (p.Ala500=)
|
rs1558661892
|
|
NM_000179.3(MSH6):c.1559G>A (p.Gly520Asp)
|
rs1669344619
|
|
NM_000179.3(MSH6):c.1574G>A (p.Ser525Asn)
|
rs765387680
|
|
NM_000179.3(MSH6):c.1586G>A (p.Gly529Asp)
|
rs786201964
|
|
NM_000179.3(MSH6):c.1593C>G (p.Pro531=)
|
rs1259890299
|
|
NM_000179.3(MSH6):c.1607G>A (p.Ser536Asn)
|
rs587782352
|
|
NM_000179.3(MSH6):c.1669G>A (p.Gly557Ser)
|
rs1553413048
|
|
NM_000179.3(MSH6):c.1740G>T (p.Ser580=)
|
rs762089407
|
|
NM_000179.3(MSH6):c.1763A>G (p.His588Arg)
|
rs786202725
|
|
NM_000179.3(MSH6):c.176C>T (p.Pro59Leu)
|
rs1668129135
|
|
NM_000179.3(MSH6):c.1776A>G (p.Val592=)
|
rs56132616
|
|
NM_000179.3(MSH6):c.1784del (p.Leu595fs)
|
rs267608050
|
|
NM_000179.3(MSH6):c.184C>A (p.Arg62Ser)
|
rs876659508
|
|
NM_000179.3(MSH6):c.184C>T (p.Arg62Cys)
|
rs876659508
|
|
NM_000179.3(MSH6):c.1865T>C (p.Ile622Thr)
|
rs2104372440
|
|
NM_000179.3(MSH6):c.186_187inv (p.Ser63Ala)
|
|
|
NM_000179.3(MSH6):c.1886A>G (p.Asp629Gly)
|
rs2104373880
|
|
NM_000179.3(MSH6):c.1898C>G (p.Thr633Ser)
|
rs1553413271
|
|
NM_000179.3(MSH6):c.189C>T (p.Ser63=)
|
rs917331457
|
|
NM_000179.3(MSH6):c.193T>G (p.Ser65Ala)
|
rs1553408350
|
|
NM_000179.3(MSH6):c.1989T>G (p.Thr663=)
|
rs1057520324
|
|
NM_000179.3(MSH6):c.1994A>G (p.Glu665Gly)
|
rs786201952
|
|
NM_000179.3(MSH6):c.199C>A (p.Pro67Thr)
|
rs878853712
|
|
NM_000179.3(MSH6):c.2040C>A (p.Ala680=)
|
|
|
NM_000179.3(MSH6):c.207GAA[3] (p.Lys70dup)
|
rs1553408369
|
|
NM_000179.3(MSH6):c.2083C>G (p.Leu695Val)
|
rs1669418611
|
|
NM_000179.3(MSH6):c.2146A>G (p.Thr716Ala)
|
rs749711246
|
|
NM_000179.3(MSH6):c.2176T>C (p.Phe726Leu)
|
rs876660381
|
|
NM_000179.3(MSH6):c.2183A>G (p.Lys728Arg)
|
rs35552856
|
|
NM_000179.3(MSH6):c.2191C>G (p.Gln731Glu)
|
rs63751442
|
|
NM_000179.3(MSH6):c.2193dup (p.Arg732fs)
|
|
|
NM_000179.3(MSH6):c.2238T>C (p.Phe746=)
|
rs1384756767
|
|
NM_000179.3(MSH6):c.2371C>T (p.Arg791Cys)
|
rs749918474
|
|
NM_000179.3(MSH6):c.2393T>C (p.Leu798Pro)
|
rs2104404366
|
|
NM_000179.3(MSH6):c.248C>G (p.Ala83Gly)
|
rs876661197
|
|
NM_000179.3(MSH6):c.2541A>T (p.Glu847Asp)
|
rs1553413887
|
|
NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter)
|
rs374230313
|
|
NM_000179.3(MSH6):c.255C>A (p.Pro85=)
|
rs587779242
|
|
NM_000179.3(MSH6):c.2560A>T (p.Lys854Ter)
|
|
|
NM_000179.3(MSH6):c.2569_2570insT (p.Asp857fs)
|
|
|
NM_000179.3(MSH6):c.258C>A (p.Thr86=)
|
rs1553408461
|
|
NM_000179.3(MSH6):c.261-14C>A
|
rs369366445
|
|
NM_000179.3(MSH6):c.261-14C>T
|
rs369366445
|
|
NM_000179.3(MSH6):c.263G>A (p.Cys88Tyr)
|
rs1060502911
|
|
NM_000179.3(MSH6):c.2656A>G (p.Ile886Val)
|
rs2020914
|
|
NM_000179.3(MSH6):c.2782A>G (p.Thr928Ala)
|
rs1057519255
|
|
NM_000179.3(MSH6):c.27_40delinsTGTG (p.Phe10fs)
|
|
|
NM_000179.3(MSH6):c.2836_2837del (p.Glu946fs)
|
rs2530696236
|
|
NM_000179.3(MSH6):c.2858A>T (p.Glu953Val)
|
|
|
NM_000179.3(MSH6):c.2875C>G (p.Arg959Gly)
|
|
|
NM_000179.3(MSH6):c.2877C>T (p.Arg959=)
|
rs781734958
|
|
NM_000179.3(MSH6):c.2903_2909dup (p.Trp970fs)
|
|
|
NM_000179.3(MSH6):c.2906A>C (p.Tyr969Ser)
|
rs63749919
|
|
NM_000179.3(MSH6):c.2906_2907del (p.Tyr969fs)
|
rs786203924
|
|
NM_000179.3(MSH6):c.2944C>G (p.Pro982Ala)
|
rs1553414320
|
|
NM_000179.3(MSH6):c.2950A>G (p.Asn984Asp)
|
rs146359682
|
|
NM_000179.3(MSH6):c.2966A>T (p.Asn989Ile)
|
rs763146296
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
NM_000179.3(MSH6):c.3042_3087dup (p.Lys1030delinsValGlyTer)
|
|
|
NM_000179.3(MSH6):c.3052C>G (p.Leu1018Val)
|
rs878853727
|
|
NM_000179.3(MSH6):c.307dup (p.Tyr103fs)
|
|
|
NM_000179.3(MSH6):c.3093C>G (p.Asp1031Glu)
|
rs1177250625
|
|
NM_000179.3(MSH6):c.3096C>T (p.Cys1032=)
|
rs1553414502
|
|
NM_000179.3(MSH6):c.3111_3114del (p.Phe1037fs)
|
|
|
NM_000179.3(MSH6):c.3114_3115dup (p.Asn1039fs)
|
rs2530714528
|
|
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer)
|
rs267608042
|
|
NM_000179.3(MSH6):c.3142C>T (p.Gln1048Ter)
|
rs200492211
|
|
NM_000179.3(MSH6):c.3172+7C>T
|
rs587780676
|
|
NM_000179.3(MSH6):c.3172+8T>G
|
rs984296149
|
|
NM_000179.3(MSH6):c.3173-12C>T
|
rs1057517629
|
|
NM_000179.3(MSH6):c.3173-14CT[2]
|
rs746607182
|
|
NM_000179.3(MSH6):c.3173-3C>G
|
rs1060502944
|
|
NM_000179.3(MSH6):c.3187C>T (p.Leu1063=)
|
rs1553331257
|
|
NM_000179.3(MSH6):c.3202C>A (p.Arg1068=)
|
rs63749843
|
|
NM_000179.3(MSH6):c.3226C>G (p.Arg1076Gly)
|
rs63750617
|
|
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs)
|
rs863225406
|
|
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3246G>C (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser)
|
rs63750998
|
|
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His)
|
rs63750753
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3277G>T (p.Gly1093Ter)
|
rs876659302
|
|
NM_000179.3(MSH6):c.3308T>G (p.Phe1103Cys)
|
rs1553331529
|
|
NM_000179.3(MSH6):c.3373G>T (p.Gly1125Cys)
|
rs2104482997
|
|
NM_000179.3(MSH6):c.3417C>T (p.Gly1139=)
|
rs876660283
|
|
NM_000179.3(MSH6):c.3469G>T (p.Gly1157Cys)
|
rs587779264
|
|
NM_000179.3(MSH6):c.3477C>T (p.Tyr1159=)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3485C>A (p.Ala1162Asp)
|
rs587779935
|
|
NM_000179.3(MSH6):c.3485C>G (p.Ala1162Gly)
|
|
|
NM_000179.3(MSH6):c.3492G>A (p.Val1164=)
|
rs1060504745
|
|
NM_000179.3(MSH6):c.34C>T (p.Pro12Ser)
|
rs587782084
|
|
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs)
|
rs863225408
|
|
NM_000179.3(MSH6):c.3533G>A (p.Gly1178Asp)
|
rs772380953
|
|
NM_000179.3(MSH6):c.3557-5_3557-4dup
|
rs267608102
|
|
NM_000179.3(MSH6):c.3557-6_3557-4del
|
|
|
NM_000179.3(MSH6):c.3559G>T (p.Glu1187Ter)
|
|
|
NM_000179.3(MSH6):c.3577G>T (p.Glu1193Ter)
|
rs63751328
|
|
NM_000179.3(MSH6):c.357C>T (p.Phe119=)
|
rs1298565919
|
|
NM_000179.3(MSH6):c.3584G>A (p.Ser1195Asn)
|
rs758428552
|
|
NM_000179.3(MSH6):c.3640G>T (p.Glu1214Ter)
|
rs1114167744
|
|
NM_000179.3(MSH6):c.3646+2T>G
|
rs1553332776
|
|
NM_000179.3(MSH6):c.3693T>C (p.Val1231=)
|
rs1553333012
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
NM_000179.3(MSH6):c.3729_3732dup (p.Phe1245fs)
|
rs587779288
|
|
NM_000179.3(MSH6):c.3743_3744insT (p.Tyr1249fs)
|
rs786201084
|
|
NM_000179.3(MSH6):c.3747_3756del (p.His1248_Tyr1249insTer)
|
|
|
NM_000179.3(MSH6):c.3762_3763delinsTT (p.Glu1254_Asp1255delinsAspTyr)
|
rs878853738
|
|
NM_000179.3(MSH6):c.3775_3776del (p.Asn1259fs)
|
rs1572745157
|
|
NM_000179.3(MSH6):c.3776A>C (p.Asn1259Thr)
|
rs1258636828
|
|
NM_000179.3(MSH6):c.377C>T (p.Ser126Leu)
|
rs1114167689
|
|
NM_000179.3(MSH6):c.3801+12_3801+39dup
|
rs1553333219
|
|
NM_000179.3(MSH6):c.3802-4T>G
|
rs1572746005
|
|
NM_000179.3(MSH6):c.3802-7_3802-4del
|
rs876661171
|
|
NM_000179.3(MSH6):c.3802-8_3802-4dup
|
rs745801834
|
|
NM_000179.3(MSH6):c.3836G>A (p.Ser1279Asn)
|
rs864622400
|
|
NM_000179.3(MSH6):c.3850_3899dup (p.Phe1300fs)
|
|
|
NM_000179.3(MSH6):c.3873G>T (p.Lys1291Asn)
|
rs1670110153
|
|
NM_000179.3(MSH6):c.3877G>C (p.Ala1293Pro)
|
rs1461336062
|
|
NM_000179.3(MSH6):c.38A>C (p.Lys13Thr)
|
rs41294988
|
|
NM_000179.3(MSH6):c.3916_3920dup (p.Asn1307fs)
|
rs1670120965
|
|
NM_000179.3(MSH6):c.3925C>T (p.Pro1309Ser)
|
|
|
NM_000179.3(MSH6):c.3956_3957dup (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3964_3982dup (p.Gln1328delinsArgIleTer)
|
|
|
NM_000179.3(MSH6):c.4001+1_4001+29dup
|
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4002-10_4002-9insTA
|
rs1670201397
|
|
NM_000179.3(MSH6):c.4002-10del
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-8_4002-5dup
|
rs780956029
|
|
NM_000179.3(MSH6):c.4002-8dup
|
rs267608139
|
|
NM_000179.3(MSH6):c.4002-9_4002-8del
|
rs1491588423
|
|
NM_000179.3(MSH6):c.4014G>C (p.Leu1338=)
|
rs61748086
|
|
NM_000179.3(MSH6):c.4062_4065dup (p.Leu1356fs)
|
rs1553334056
|
|
NM_000179.3(MSH6):c.41C>T (p.Ser14Phe)
|
rs863224628
|
|
NM_000179.3(MSH6):c.457+33_457+34insGTGT
|
|
|
NM_000179.3(MSH6):c.474A>G (p.Glu158=)
|
rs878853747
|
|
NM_000179.3(MSH6):c.477C>T (p.Ala159=)
|
rs2104229136
|
|
NM_000179.3(MSH6):c.48G>T (p.Ala16=)
|
|
|
NM_000179.3(MSH6):c.50T>C (p.Leu17Pro)
|
rs1553408119
|
|
NM_000179.3(MSH6):c.520A>C (p.Arg174=)
|
rs1405000889
|
|
NM_000179.3(MSH6):c.523G>A (p.Ala175Thr)
|
rs2104232775
|
|
NM_000179.3(MSH6):c.540_541inv (p.Glu181Lys)
|
|
|
NM_000179.3(MSH6):c.552_555del (p.Asn184fs)
|
rs1023534466
|
|
NM_000179.3(MSH6):c.600A>C (p.Ser200=)
|
rs2104239480
|
|
NM_000179.3(MSH6):c.628G>A (p.Val210Ile)
|
rs936063254
|
|
NM_000179.3(MSH6):c.635C>G (p.Thr212Arg)
|
rs876659637
|
|
NM_000179.3(MSH6):c.689A>C (p.Glu230Ala)
|
rs2104291254
|
|
NM_000179.3(MSH6):c.736A>G (p.Lys246Glu)
|
rs1572720148
|
|
NM_000179.3(MSH6):c.753A>G (p.Ile251Met)
|
rs587779321
|
|
NM_000179.3(MSH6):c.767G>A (p.Ser256Asn)
|
rs1553412194
|
|
NM_000179.3(MSH6):c.833T>A (p.Ile278Lys)
|
rs876658406
|
|
NM_000179.3(MSH6):c.866_867delinsAA (p.Gly289Glu)
|
rs267608079
|
|
NM_000179.3(MSH6):c.882C>G (p.Val294=)
|
rs1572720691
|
|
NM_000179.3(MSH6):c.927T>C (p.Ser309=)
|
rs771288794
|
|
NM_000179.3(MSH6):c.947G>C (p.Arg316Thr)
|
rs562487553
|
|
NM_000249.3(MLH1):c.1039-?_1558+?del
|
|
|
NM_000249.3(MLH1):c.1732-?_1896+?del
|
|
|
NM_000249.3(MLH1):c.307-?_1667+?dup
|
|
|
NM_000249.3(MLH1):c.381-?_677+?del
|
|
|
NM_000249.3(MLH1):c.546-?_1731+?dup
|
|
|
NM_000249.4(MLH1):c.1011del (p.Asn338fs)
|
rs63750677
|
|
NM_000249.4(MLH1):c.1038+1G>C
|
rs267607816
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTA
|
rs535965616
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTTA
|
rs535965616
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTTA
|
rs535965616
|
|
NM_000249.4(MLH1):c.1045C>A (p.Leu349Ile)
|
|
|
NM_000249.4(MLH1):c.1171C>T (p.Gln391Ter)
|
rs587778894
|
|
NM_000249.4(MLH1):c.119del (p.Cys39_Leu40insTer)
|
rs587778896
|
|
NM_000249.4(MLH1):c.1204_1207dup (p.Pro403fs)
|
rs2471123248
|
|
NM_000249.4(MLH1):c.121del (p.Asp41fs)
|
rs2470672531
|
|
NM_000249.4(MLH1):c.1255A>G (p.Ile419Val)
|
rs781335662
|
|
NM_000249.4(MLH1):c.1325_1346delinsATTTT (p.Ala442fs)
|
rs587778903
|
|
NM_000249.4(MLH1):c.1331A>G (p.Asn444Ser)
|
rs763189331
|
|
NM_000249.4(MLH1):c.134_135insT (p.Ser46fs)
|
|
|
NM_000249.4(MLH1):c.1358dup (p.Thr455fs)
|
rs1553651429
|
|
NM_000249.4(MLH1):c.135_137delinsTACT (p.Ser46fs)
|
|
|
NM_000249.4(MLH1):c.136_137inv (p.Ser46Leu)
|
|
|
NM_000249.4(MLH1):c.1444G>A (p.Val482Met)
|
rs1057089565
|
|
NM_000249.4(MLH1):c.146T>A (p.Val49Glu)
|
rs63750098
|
|
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1558+1G>A
|
rs267607832
|
|
NM_000249.4(MLH1):c.1559-10T>G
|
|
|
NM_000249.4(MLH1):c.1559-1G>T
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-1_1667+1del
|
|
|
NM_000249.4(MLH1):c.1559-1_1667+65del
|
|
|
NM_000249.4(MLH1):c.1559-2A>G
|
rs267607836
|
|
NM_000249.4(MLH1):c.1587C>T (p.Ser529=)
|
rs767089159
|
|
NM_000249.4(MLH1):c.1664T>G (p.Leu555Arg)
|
rs587778937
|
|
NM_000249.4(MLH1):c.1667+1G>T
|
rs1434898623
|
|
NM_000249.4(MLH1):c.1667+8A>C
|
rs1553658260
|
|
NM_000249.4(MLH1):c.1667G>A (p.Ser556Asn)
|
rs63751596
|
|
NM_000249.4(MLH1):c.1725G>T (p.Arg575Ser)
|
|
|
NM_000249.4(MLH1):c.1731+5G>A
|
rs267607850
|
|
NM_000249.4(MLH1):c.1738G>A (p.Ala580Thr)
|
rs864622530
|
|
NM_000249.4(MLH1):c.1758dup (p.Met587fs)
|
rs63749863
|
|
NM_000249.4(MLH1):c.1791G>A (p.Trp597Ter)
|
rs1416171624
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter)
|
rs63751428
|
|
NM_000249.4(MLH1):c.1877T>C (p.Phe626Ser)
|
rs587778952
|
|
NM_000249.4(MLH1):c.188A>G (p.Asp63Gly)
|
rs1064795693
|
|
NM_000249.4(MLH1):c.18_34del (p.Val7fs)
|
rs63751892
|
|
NM_000249.4(MLH1):c.1919C>T (p.Pro640Leu)
|
rs267607875
|
|
NM_000249.4(MLH1):c.1923T>A (p.Leu641=)
|
rs1553663840
|
|
NM_000249.4(MLH1):c.1923del (p.Leu641_Leu642insTer)
|
rs1553663834
|
|
NM_000249.4(MLH1):c.1934_1942delinsT (p.Asn645fs)
|
|
|
NM_000249.4(MLH1):c.1990-11C>A
|
rs2125992744
|
|
NM_000249.4(MLH1):c.2020G>C (p.Glu674Gln)
|
|
|
NM_000249.4(MLH1):c.2030G>A (p.Ser677Asn)
|
rs587778970
|
|
NM_000249.4(MLH1):c.2038_2063del (p.Cys680fs)
|
|
|
NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter)
|
rs63749867
|
|
NM_000249.4(MLH1):c.2048_2050del (p.Phe683del)
|
rs1553664506
|
|
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe)
|
rs1064796101
|
|
NM_000249.4(MLH1):c.2061del (p.Lys688fs)
|
|
|
NM_000249.4(MLH1):c.206G>A (p.Arg69Lys)
|
rs63751661
|
|
NM_000249.4(MLH1):c.2080_2081inv (p.Glu694Ser)
|
|
|
NM_000249.4(MLH1):c.2109_2112dup (p.Pro705fs)
|
rs2471501187
|
|
NM_000249.4(MLH1):c.210_213del
|
rs267607723
|
|
NM_000249.4(MLH1):c.2121C>T (p.Ser707=)
|
rs886038273
|
|
NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter)
|
rs63750561
|
|
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)
|
rs63751022
|
|
NM_000249.4(MLH1):c.2146G>T (p.Val716Leu)
|
rs35831931
|
|
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs)
|
rs267607903
|
|
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter)
|
rs267607893
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.230G>A (p.Cys77Tyr)
|
rs63750437
|
|
NM_000249.4(MLH1):c.261del (p.Phe88fs)
|
rs267607728
|
|
NM_000249.4(MLH1):c.283del (p.Ser95fs)
|
rs1064795441
|
|
NM_000249.4(MLH1):c.289T>G (p.Tyr97Asp)
|
rs1553640297
|
|
NM_000249.4(MLH1):c.334C>G (p.His112Asp)
|
rs1559517227
|
|
NM_000249.4(MLH1):c.346del (p.Thr116fs)
|
rs63750906
|
|
NM_000249.4(MLH1):c.36C>A (p.Asp12Glu)
|
|
|
NM_000249.4(MLH1):c.372_373del (p.Ala125fs)
|
rs587779006
|
|
NM_000249.4(MLH1):c.413dup (p.Pro139fs)
|
|
|
NM_000249.4(MLH1):c.423A>G (p.Pro141=)
|
rs201176051
|
|
NM_000249.4(MLH1):c.453+1G>T
|
rs267607750
|
|
NM_000249.4(MLH1):c.456_545+2del
|
rs1553642657
|
|
NM_000249.4(MLH1):c.460del (p.Asp154fs)
|
rs1575448385
|
|
NM_000249.4(MLH1):c.492del (p.Ala165fs)
|
rs1553642698
|
|
NM_000249.4(MLH1):c.546-1G>A
|
rs587779022
|
|
NM_000249.4(MLH1):c.546-2_589-59del
|
rs2125805231
|
|
NM_000249.4(MLH1):c.588+5G>A
|
rs267607768
|
|
NM_000249.4(MLH1):c.589-9_589-6del
|
rs587779026
|
|
NM_000249.4(MLH1):c.654_655inv (p.Ile219Val)
|
|
|
NM_000249.4(MLH1):c.677+1G>T
|
rs267607778
|
|
NM_000249.4(MLH1):c.70del (p.Val24fs)
|
rs63751396
|
|
NM_000249.4(MLH1):c.718T>C (p.Phe240Leu)
|
|
|
NM_000249.4(MLH1):c.753C>G (p.Tyr251Ter)
|
rs63750310
|
|
NM_000249.4(MLH1):c.753_755del (p.Tyr251_Ser252delinsTer)
|
rs1553645256
|
|
NM_000249.4(MLH1):c.790+5G>A
|
rs267607771
|
|
NM_000249.4(MLH1):c.791-1G>A
|
rs267607795
|
|
NM_000249.4(MLH1):c.808_811del (p.Thr270fs)
|
rs267607801
|
|
NM_000249.4(MLH1):c.810T>C (p.Thr270=)
|
rs1575494991
|
|
NM_000249.4(MLH1):c.85G>C (p.Ala29Pro)
|
|
|
NM_000249.4(MLH1):c.876G>A (p.Leu292=)
|
rs773452312
|
|
NM_000249.4(MLH1):c.87dup (p.Asn30Ter)
|
|
|
NM_000249.4(MLH1):c.885-2A>G
|
rs267607805
|
|
NM_000249.4(MLH1):c.887T>A (p.Leu296Ter)
|
rs63750547
|
|
NM_000249.4(MLH1):c.898_908del (p.Pro300fs)
|
rs1553647928
|
|
NM_000249.4(MLH1):c.911A>G (p.Asp304Gly)
|
rs63750993
|
|
NM_000249.4(MLH1):c.91_92delinsTG (p.Ala31Cys)
|
rs63749994
|
|
NM_000249.4(MLH1):c.949del (p.Leu317fs)
|
rs1553648029
|
|
NM_000251.2(MSH2):c.1662-?_1759+?del
|
|
|
NM_000251.2(MSH2):c.1760-?_2458+?del
|
|
|
NM_000251.2(MSH2):c.2006-?_2210+?del
|
|
|
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-?_645+?del
|
|
|
NM_000251.2(MSH2):c.943-?_1076+?del
|
|
|
NM_000251.3(MSH2):c.-1_211+1176del
|
|
|
NM_000251.3(MSH2):c.-1_211+156del
|
|
|
NM_000251.3(MSH2):c.-1_211+1del
|
|
|
NM_000251.3(MSH2):c.-1_211+866del
|
|
|
NM_000251.3(MSH2):c.-82G>C
|
rs866991159
|
|
NM_000251.3(MSH2):c.1005C>T (p.Thr335=)
|
rs749117915
|
|
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter)
|
rs63750778
|
|
NM_000251.3(MSH2):c.101T>G (p.Val34Gly)
|
rs63751424
|
|
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)
|
rs63750245
|
|
NM_000251.3(MSH2):c.103C>G (p.Arg35Gly)
|
rs1060502034
|
|
NM_000251.3(MSH2):c.1054G>A (p.Asp352Asn)
|
rs1465121242
|
|
NM_000251.3(MSH2):c.1076+1G>A
|
rs267607940
|
|
NM_000251.3(MSH2):c.1077_1276del
|
rs1553356518
|
|
NM_000251.3(MSH2):c.1094C>A (p.Ala365Asp)
|
rs1242235025
|
|
NM_000251.3(MSH2):c.1158T>A (p.Asp386Glu)
|
|
|
NM_000251.3(MSH2):c.1215C>A (p.Tyr405Ter)
|
rs63751271
|
|
NM_000251.3(MSH2):c.1217G>T (p.Arg406Leu)
|
rs146567853
|
|
NM_000251.3(MSH2):c.1217del (p.Arg406fs)
|
|
|
NM_000251.3(MSH2):c.1276G>C (p.Gly426Arg)
|
rs879254234
|
|
NM_000251.3(MSH2):c.1277-2_1386+1del
|
rs2103751857
|
|
NM_000251.3(MSH2):c.1278_1386+1del
|
rs1553361141
|
|
NM_000251.3(MSH2):c.1320dup (p.Thr441fs)
|
|
|
NM_000251.3(MSH2):c.136_164del (p.His46fs)
|
rs63751482
|
|
NM_000251.3(MSH2):c.1373T>G (p.Leu458Ter)
|
rs63750521
|
|
NM_000251.3(MSH2):c.1375G>C (p.Asp459His)
|
rs1553361295
|
|
NM_000251.3(MSH2):c.1386+1G>A
|
rs267607957
|
|
NM_000251.3(MSH2):c.1387-2del
|
rs2104082025
|
|
NM_000251.3(MSH2):c.1418C>G (p.Ser473Ter)
|
rs63751403
|
|
NM_000251.3(MSH2):c.1485A>T (p.Thr495=)
|
|
|
NM_000251.3(MSH2):c.149C>A (p.Ala50Glu)
|
rs876658582
|
|
NM_000251.3(MSH2):c.1510+10G>A
|
rs1553365836
|
|
NM_000251.3(MSH2):c.1538_1539del (p.Leu513fs)
|
rs863225391
|
|
NM_000251.3(MSH2):c.1547G>T (p.Ser516Ile)
|
rs373564353
|
|
NM_000251.3(MSH2):c.154C>A (p.Leu52Met)
|
rs786202335
|
|
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs)
|
rs63749930
|
|
NM_000251.3(MSH2):c.160G>T (p.Ala54Ser)
|
rs749212640
|
|
NM_000251.3(MSH2):c.1626A>G (p.Val542=)
|
rs1553366635
|
|
NM_000251.3(MSH2):c.163del (p.Arg55fs)
|
rs63750337
|
|
NM_000251.3(MSH2):c.1672dup (p.Ser558fs)
|
|
|
NM_000251.3(MSH2):c.1746C>A (p.Val582=)
|
rs786201486
|
|
NM_000251.3(MSH2):c.1748A>T (p.Asn583Ile)
|
rs201118107
|
|
NM_000251.3(MSH2):c.174C>G (p.Phe58Leu)
|
rs372189599
|
|
NM_000251.3(MSH2):c.1760-1_2006-296del
|
|
|
NM_000251.3(MSH2):c.1760_2005+455del
|
|
|
NM_000251.3(MSH2):c.1856A>C (p.Tyr619Ser)
|
|
|
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)
|
rs63750508
|
|
NM_000251.3(MSH2):c.1937A>T (p.Asp646Val)
|
rs41295290
|
|
NM_000251.3(MSH2):c.1961A>T (p.Asp654Val)
|
rs2104348304
|
|
NM_000251.3(MSH2):c.198C>A (p.Tyr66Ter)
|
rs730881784
|
|
NM_000251.3(MSH2):c.1_211del (p.Met1fs)
|
|
|
NM_000251.3(MSH2):c.2043A>G (p.Gln681=)
|
rs730881763
|
|
NM_000251.3(MSH2):c.2048G>C (p.Gly683Ala)
|
rs755920849
|
|
NM_000251.3(MSH2):c.2052G>T (p.Val684=)
|
rs1667303279
|
|
NM_000251.3(MSH2):c.2077T>G (p.Cys693Gly)
|
|
|
NM_000251.3(MSH2):c.2083G>A (p.Val695Met)
|
rs772491283
|
|
NM_000251.3(MSH2):c.2089T>C (p.Cys697Arg)
|
rs63750961
|
|
NM_000251.3(MSH2):c.2095T>C (p.Ser699Pro)
|
rs1428704795
|
|
NM_000251.3(MSH2):c.2100del (p.Glu701fs)
|
rs1553369113
|
|
NM_000251.3(MSH2):c.211+1G>C
|
rs1114167883
|
|
NM_000251.3(MSH2):c.212-1_366+711del
|
|
|
NM_000251.3(MSH2):c.212-5_212-4del
|
rs746333570
|
|
NM_000251.3(MSH2):c.213_1076+1del
|
|
|
NM_000251.3(MSH2):c.213_366+1del
|
rs1553350052
|
|
NM_000251.3(MSH2):c.2206C>G (p.Leu736Val)
|
rs876658727
|
|
NM_000251.3(MSH2):c.2210+7G>A
|
rs374675118
|
|
NM_000251.3(MSH2):c.2211-2A>T
|
rs267608001
|
|
NM_000251.3(MSH2):c.2228C>T (p.Ser743Leu)
|
rs63751155
|
|
NM_000251.3(MSH2):c.2230T>C (p.Leu744=)
|
rs1188205467
|
|
NM_000251.3(MSH2):c.2262_2267del (p.Ser755_Thr756del)
|
rs2528980189
|
|
NM_000251.3(MSH2):c.2326G>A (p.Ala776Thr)
|
rs1558521842
|
|
NM_000251.3(MSH2):c.2335A>G (p.Met779Val)
|
rs1114167843
|
|
NM_000251.3(MSH2):c.2375A>G (p.Asn792Ser)
|
rs587782891
|
|
NM_000251.3(MSH2):c.23C>A (p.Thr8Lys)
|
rs17217716
|
|
NM_000251.3(MSH2):c.2420C>G (p.Thr807Ser)
|
rs41295294
|
|
NM_000251.3(MSH2):c.2455A>G (p.Lys819Glu)
|
rs1369739730
|
|
NM_000251.3(MSH2):c.2458+10A>G
|
rs1269379998
|
|
NM_000251.3(MSH2):c.2480G>A (p.Gly827Glu)
|
rs2104435371
|
|
NM_000251.3(MSH2):c.2525_2526del (p.Glu842fs)
|
rs587779148
|
|
NM_000251.3(MSH2):c.2538G>T (p.Gln846His)
|
|
|
NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter)
|
rs63749830
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
NM_000251.3(MSH2):c.2599G>T (p.Glu867Ter)
|
rs2104440647
|
|
NM_000251.3(MSH2):c.2618_2620dup (p.Cys873_Tyr874insCys)
|
|
|
NM_000251.3(MSH2):c.2634+1G>A
|
rs267608019
|
|
NM_000251.3(MSH2):c.2634+4T>C
|
rs1553370486
|
|
NM_000251.3(MSH2):c.264del (p.Phe88fs)
|
|
|
NM_000251.3(MSH2):c.2704G>A (p.Glu902Lys)
|
rs867671639
|
|
NM_000251.3(MSH2):c.2704G>C (p.Glu902Gln)
|
|
|
NM_000251.3(MSH2):c.2714C>G (p.Thr905Arg)
|
rs267608022
|
|
NM_000251.3(MSH2):c.2755A>G (p.Asn919Asp)
|
rs1573582795
|
|
NM_000251.3(MSH2):c.2757T>C (p.Asn919=)
|
rs1354355913
|
|
NM_000251.3(MSH2):c.332C>T (p.Ala111Val)
|
rs1672561306
|
|
NM_000251.3(MSH2):c.338A>G (p.Lys113Arg)
|
rs1672561938
|
|
NM_000251.3(MSH2):c.367-2_645+432del
|
rs2104016448
|
|
NM_000251.3(MSH2):c.367-2_645+742del
|
|
|
NM_000251.3(MSH2):c.367-400_476del
|
|
|
NM_000251.3(MSH2):c.368_645+1del
|
|
|
NM_000251.3(MSH2):c.373C>A (p.Pro125Thr)
|
rs761767467
|
|
NM_000251.3(MSH2):c.388_389del (p.Gln130fs)
|
rs63750704
|
|
NM_000251.3(MSH2):c.403C>G (p.Leu135Val)
|
rs193096019
|
|
NM_000251.3(MSH2):c.418_420del (p.Asp140del)
|
|
|
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)
|
rs63750910
|
|
NM_000251.3(MSH2):c.448G>T (p.Val150Phe)
|
rs1558459157
|
|
NM_000251.3(MSH2):c.459del (p.Ala154fs)
|
rs2104023773
|
|
NM_000251.3(MSH2):c.47A>C (p.Glu16Ala)
|
rs745771647
|
|
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)
|
rs63750624
|
|
NM_000251.3(MSH2):c.505A>C (p.Ile169Leu)
|
|
|
NM_000251.3(MSH2):c.562G>C (p.Glu188Gln)
|
rs1064795622
|
|
NM_000251.3(MSH2):c.606C>G (p.Pro202=)
|
rs63750600
|
|
NM_000251.3(MSH2):c.616_617dup (p.Ala207fs)
|
|
|
NM_000251.3(MSH2):c.687_688insT (p.Ala230fs)
|
rs63750364
|
|
NM_000251.3(MSH2):c.690T>C (p.Ala230=)
|
rs1553351595
|
|
NM_000251.3(MSH2):c.793-1G>A
|
rs863225397
|
|
NM_000251.3(MSH2):c.793-2A>T
|
rs267607933
|
|
NM_000251.3(MSH2):c.806C>T (p.Ser269Leu)
|
rs63750058
|
|
NM_000251.3(MSH2):c.809T>C (p.Leu270Pro)
|
rs1573451078
|
|
NM_000251.3(MSH2):c.812C>G (p.Ser271Cys)
|
rs139891783
|
|
NM_000251.3(MSH2):c.862C>T (p.Gln288Ter)
|
rs63750097
|
|
NM_000251.3(MSH2):c.867T>G (p.Phe289Leu)
|
|
|
NM_000251.3(MSH2):c.924_942del (p.Ala309fs)
|
|
|
NM_000251.3(MSH2):c.930T>C (p.Leu310=)
|
rs2104180148
|
|
NM_000251.3(MSH2):c.940C>T (p.Gln314Ter)
|
rs1114167845
|
|
NM_000251.3(MSH2):c.942+1G>A
|
rs587779193
|
|
NM_000251.3(MSH2):c.942+25_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+3_942+4delinsGG
|
|
|
NM_000251.3(MSH2):c.942+3_942+4insC
|
|
|
NM_000251.3(MSH2):c.943-6_943-1delinsA
|
|
|
NM_000251.3(MSH2):c.946del (p.Ser316fs)
|
rs2465814567
|
|
NM_000251.3(MSH2):c.965G>T (p.Gly322Val)
|
rs4987188
|
|
NM_000251.3(MSH2):c.989T>C (p.Leu330Pro)
|
rs63750630
|
|
NM_000534.5(PMS1):c.418+40T>A
|
|
|
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs)
|
rs1554294508
|
|
NM_000535.7(PMS2):c.-6G>T
|
|
|
NM_000535.7(PMS2):c.1021del (p.Arg341fs)
|
rs63750049
|
|
NM_000535.7(PMS2):c.1026A>C (p.Gln342His)
|
rs561993366
|
|
NM_000535.7(PMS2):c.1026A>G (p.Gln342=)
|
rs561993366
|
|
NM_000535.7(PMS2):c.1051T>C (p.Leu351=)
|
rs1554298759
|
|
NM_000535.7(PMS2):c.1076dup (p.Leu359fs)
|
rs267608156
|
|
NM_000535.7(PMS2):c.1145-982_2006+2del
|
|
|
NM_000535.7(PMS2):c.1159A>C (p.Met387Leu)
|
rs876658440
|
|
NM_000535.7(PMS2):c.1204C>A (p.Gln402Lys)
|
rs587782789
|
|
NM_000535.7(PMS2):c.1245G>A (p.Val415=)
|
rs370701800
|
|
NM_000535.7(PMS2):c.132_134del (p.Glu44_Asn45delinsAsp)
|
|
|
NM_000535.7(PMS2):c.1338T>C (p.Pro446=)
|
rs786203033
|
|
NM_000535.7(PMS2):c.1353G>A (p.Arg451=)
|
|
|
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg)
|
rs569947936
|
|
NM_000535.7(PMS2):c.1356T>G (p.Gly452=)
|
rs786202946
|
|
NM_000535.7(PMS2):c.1358T>G (p.Met453Arg)
|
rs1060503130
|
|
NM_000535.7(PMS2):c.135_136del (p.Asn45fs)
|
rs1583418616
|
|
NM_000535.7(PMS2):c.1362_1408dup (p.Pro470delinsArgLeuLeuAlaLeuGlnValProSerLeuThrLysAlaSerTer)
|
|
|
NM_000535.7(PMS2):c.1414A>T (p.Lys472Ter)
|
rs1562633172
|
|
NM_000535.7(PMS2):c.1421C>T (p.Ala474Val)
|
|
|
NM_000535.7(PMS2):c.1437C>T (p.His479=)
|
rs63750685
|
|
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg)
|
rs146848345
|
|
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met)
|
rs1805323
|
|
NM_000535.7(PMS2):c.1565G>C (p.Ser522Thr)
|
rs1783049434
|
|
NM_000535.7(PMS2):c.1632C>A (p.Asp544Glu)
|
rs786203439
|
|
NM_000535.7(PMS2):c.164-1G>C
|
rs763308607
|
|
NM_000535.7(PMS2):c.1657T>C (p.Ser553Pro)
|
|
|
NM_000535.7(PMS2):c.1671T>C (p.Asp557=)
|
rs1554297386
|
|
NM_000535.7(PMS2):c.1673C>T (p.Thr558Ile)
|
rs114037612
|
|
NM_000535.7(PMS2):c.1682A>G (p.Lys561Arg)
|
rs876658481
|
|
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln)
|
rs587780725
|
|
NM_000535.7(PMS2):c.1712T>G (p.Leu571Arg)
|
rs1060503128
|
|
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer)
|
rs1060503126
|
|
NM_000535.7(PMS2):c.1730dup (p.Arg578fs)
|
rs587779330
|
|
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)
|
rs267608169
|
|
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)
|
rs764252217
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.1897C>T (p.His633Tyr)
|
rs1583314065
|
|
NM_000535.7(PMS2):c.1916G>A (p.Ser639Asn)
|
rs876659769
|
|
NM_000535.7(PMS2):c.1946G>A (p.Arg649Lys)
|
rs1583313460
|
|
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)
|
rs869320619
|
|
NM_000535.7(PMS2):c.2040T>G (p.Gly680=)
|
|
|
NM_000535.7(PMS2):c.2043G>T (p.Gln681His)
|
rs876658953
|
|
NM_000535.7(PMS2):c.2085C>T (p.Ile695=)
|
rs757157176
|
|
NM_000535.7(PMS2):c.2091A>G (p.Ile697Met)
|
rs1554295855
|
|
NM_000535.7(PMS2):c.2095G>T (p.Asp699Tyr)
|
rs587781317
|
|
NM_000535.7(PMS2):c.2154C>T (p.Leu718=)
|
rs749554813
|
|
NM_000535.7(PMS2):c.215G>T (p.Gly72Val)
|
rs730881915
|
|
NM_000535.7(PMS2):c.2175-1337_2445+1del
|
|
|
NM_000535.7(PMS2):c.2176C>T (p.Pro726Ser)
|
rs1407555810
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.21G>C (p.Ser7=)
|
rs587780726
|
|
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe)
|
rs758225108
|
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NM_000535.7(PMS2):c.226GAA[2] (p.Glu78del)
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rs386833411
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NM_000535.7(PMS2):c.2276-1_2445+1del
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NM_000535.7(PMS2):c.2276_2444dup (p.Ser815_Val816insSerSerHisTer)
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NM_000535.7(PMS2):c.23+16A>G
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rs1554308921
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NM_000535.7(PMS2):c.23+21_23+28del
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rs1554308880
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NM_000535.7(PMS2):c.2357_2445+509del
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NM_000535.7(PMS2):c.2380C>G (p.Pro794Ala)
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rs773393960
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NM_000535.7(PMS2):c.2416A>G (p.Met806Val)
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rs1554293792
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NM_000535.7(PMS2):c.2445+5G>C
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rs1583279335
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NM_000535.7(PMS2):c.2446-171_*1del
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NM_000535.7(PMS2):c.2457G>T (p.Gly819=)
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rs786203315
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NM_000535.7(PMS2):c.2458dup (p.Thr820fs)
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rs1554292880
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NM_000535.7(PMS2):c.2500_2501delinsGG (p.Met834Gly)
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NM_000535.7(PMS2):c.2536G>T (p.Gly846Ter)
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rs1583269216
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NM_000535.7(PMS2):c.2583G>A (p.Gln861=)
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NM_000535.7(PMS2):c.2587T>G (p.Ter863Gly)
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rs1060503124
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NM_000535.7(PMS2):c.280G>A (p.Glu94Lys)
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rs1583408872
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NM_000535.7(PMS2):c.289G>T (p.Asp97Tyr)
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rs1395998044
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NM_000535.7(PMS2):c.312T>C (p.Phe104=)
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rs778519215
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NM_000535.7(PMS2):c.321G>T (p.Arg107=)
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rs756420858
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NM_000535.7(PMS2):c.323G>C (p.Gly108Ala)
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rs1785369293
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NM_000535.7(PMS2):c.325dup (p.Glu109fs)
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rs587781716
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NM_000535.7(PMS2):c.363C>A (p.Thr121=)
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NM_000535.7(PMS2):c.387G>A (p.Ala129=)
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rs876658275
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NM_000535.7(PMS2):c.390G>T (p.Lys130Asn)
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NM_000535.7(PMS2):c.467C>T (p.Thr156Ile)
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rs1554303953
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NM_000535.7(PMS2):c.468A>T (p.Thr156=)
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rs1364918195
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NM_000535.7(PMS2):c.567T>A (p.His189Gln)
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NM_000535.7(PMS2):c.580A>C (p.Ile194Leu)
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NM_000535.7(PMS2):c.613C>T (p.Gln205Ter)
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rs758250810
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NM_000535.7(PMS2):c.706-5_706-4dup
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rs60794673
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NM_000535.7(PMS2):c.779_780delinsTG (p.Ser260Leu)
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rs730881920
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NM_000535.7(PMS2):c.779_780inv (p.Ser260Trp)
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NM_000535.7(PMS2):c.800T>G (p.Phe267Cys)
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rs1034075819
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NM_000535.7(PMS2):c.817A>G (p.Ile273Val)
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rs587778621
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NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)
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rs1805322
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NM_000535.7(PMS2):c.860dup (p.Gln288fs)
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rs2128775362
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NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
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rs267608154
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NM_000535.7(PMS2):c.889T>G (p.Cys297Gly)
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rs1562663507
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NM_000535.7(PMS2):c.903+3A>G
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rs1562663258
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NM_000535.7(PMS2):c.904G>C (p.Val302Leu)
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NM_000535.7(PMS2):c.906_1144+2del
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NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)
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rs143277125
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NM_000535.7(PMS2):c.967C>G (p.Leu323Val)
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rs1554299391
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NM_000535.7(PMS2):c.989-3T>C
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rs1156325177
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NM_000535.7(PMS2):c.989-86_1144+1del
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NM_001040108.2(MLH3):c.-15A>G
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NM_001040108.2(MLH3):c.1006_1009del (p.Leu336fs)
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NM_001040108.2(MLH3):c.1223C>A (p.Ser408Ter)
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rs745988563
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NM_001040108.2(MLH3):c.1267C>T (p.Gln423Ter)
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NM_001040108.2(MLH3):c.149T>A (p.Phe50Tyr)
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rs148409389
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NM_001040108.2(MLH3):c.1533T>G (p.Pro511=)
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NM_001040108.2(MLH3):c.1770T>A (p.Cys590Ter)
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rs769773711
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NM_001040108.2(MLH3):c.1901G>C (p.Gly634Ala)
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NM_001040108.2(MLH3):c.1925T>G (p.Phe642Cys)
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rs777245092
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NM_001040108.2(MLH3):c.1969G>C (p.Asp657His)
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|
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NM_001040108.2(MLH3):c.2076A>G (p.Thr692=)
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rs1892338323
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NM_001040108.2(MLH3):c.2131T>C (p.Ser711Pro)
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rs894904610
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NM_001040108.2(MLH3):c.2147_2148del (p.Ser716fs)
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rs1892331030
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NM_001040108.2(MLH3):c.2194A>C (p.Lys732Gln)
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rs756278550
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NM_001040108.2(MLH3):c.2636G>T (p.Arg879Ile)
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rs2503265167
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NM_001040108.2(MLH3):c.2713A>G (p.Ser905Gly)
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rs1595084225
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NM_001040108.2(MLH3):c.3122G>T (p.Cys1041Phe)
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NM_001040108.2(MLH3):c.3185C>G (p.Thr1062Ser)
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NM_001040108.2(MLH3):c.3380-14C>G
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NM_001040108.2(MLH3):c.3443C>T (p.Pro1148Leu)
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rs2139493159
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NM_001040108.2(MLH3):c.3466-19_3569dup
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|
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NM_001040108.2(MLH3):c.3550G>A (p.Gly1184Arg)
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rs747888681
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NM_001040108.2(MLH3):c.3825A>G (p.Leu1275=)
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NM_001040108.2(MLH3):c.4150_4151del (p.Leu1384fs)
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rs1162704717
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NM_001040108.2(MLH3):c.4255C>G (p.Leu1419Val)
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NM_001040108.2(MLH3):c.4289_4293del (p.Arg1430fs)
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rs1450109980
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NM_001040108.2(MLH3):c.446A>G (p.Tyr149Cys)
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|
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NM_001040108.2(MLH3):c.589A>T (p.Met197Leu)
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rs750800691
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NM_001040108.2(MLH3):c.735CAA[1] (p.Asn246del)
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rs774010757
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NM_001406873.1(PMS2):c.705+1685_790del
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NM_002354.2(EPCAM):c.904-?_945+?del
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NM_002354.3(EPCAM):c.-2_77del (p.Met1fs)
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rs2103737908
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NM_002354.3(EPCAM):c.556-1_657+289del
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NM_002354.3(EPCAM):c.556_945del390 (p.Tyr186_Ter315del)
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NM_002354.3(EPCAM):c.904-1_*1del
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Single allele
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