NM_000535.7(PMS2):c.780C>G (p.Ser260=)
|
rs1805319
|
0.82058
|
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)
|
rs1805321
|
0.37107
|
NM_000535.7(PMS2):c.705+17A>G
|
rs62456182
|
0.33782
|
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)
|
rs1802683
|
0.30966
|
NM_000535.7(PMS2):c.2007-4G>A
|
rs1805326
|
0.12350
|
NM_000535.7(PMS2):c.2007-7C>T
|
rs55954143
|
0.12135
|
NM_000535.7(PMS2):c.2466T>C (p.Leu822=)
|
rs10000
|
0.11447
|
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)
|
rs10254120
|
0.07445
|
NM_000535.7(PMS2):c.164-108G>C
|
rs12538294
|
0.06053
|
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys)
|
rs1805323
|
0.05742
|
NM_000535.7(PMS2):c.2006+6G>A
|
rs111905775
|
0.04390
|
NM_000535.7(PMS2):c.288C>T (p.Ala96=)
|
rs12532895
|
0.03944
|
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)
|
rs74902811
|
0.02492
|
NM_000535.7(PMS2):c.1488C>T (p.His496=)
|
rs1805320
|
0.02307
|
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)
|
rs2228007
|
0.02174
|
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)
|
rs1805324
|
0.01651
|
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=)
|
rs6972869
|
0.01065
|
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)
|
rs1805318
|
0.01006
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
NM_000535.7(PMS2):c.1569C>G (p.Ser523=)
|
rs141458772
|
0.00560
|
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys)
|
rs115052399
|
0.00370
|
NM_000535.7(PMS2):c.1266G>A (p.Glu422=)
|
rs138049175
|
0.00348
|
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)
|
rs141893001
|
0.00203
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
NM_000535.7(PMS2):c.23+10G>C
|
rs192027828
|
0.00182
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)
|
rs587780057
|
0.00174
|
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)
|
rs149202766
|
0.00142
|
NM_000535.7(PMS2):c.2340C>T (p.Pro780=)
|
rs142230276
|
0.00117
|
NM_000535.7(PMS2):c.24-1474A>G
|
rs183250541
|
0.00108
|
NM_000535.7(PMS2):c.353+9A>C
|
rs139990791
|
0.00099
|
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu)
|
rs200313585
|
0.00088
|
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro)
|
rs116349687
|
0.00088
|
NM_000535.7(PMS2):c.251-20T>G
|
rs149343081
|
0.00086
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
NM_000535.7(PMS2):c.904-1533G>A
|
rs374061145
|
0.00049
|
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp)
|
rs115670442
|
0.00048
|
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro)
|
rs148069478
|
0.00045
|
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
NM_000535.7(PMS2):c.1560G>A (p.Ala520=)
|
rs201167814
|
0.00039
|
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly)
|
rs756883400
|
0.00038
|
NM_000535.7(PMS2):c.1864A>G (p.Met622Val)
|
rs370853512
|
0.00035
|
NM_000535.7(PMS2):c.988+11T>C
|
rs139969671
|
0.00032
|
NM_000535.7(PMS2):c.706-3C>T
|
rs1229860023
|
0.00030
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00029
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_000535.7(PMS2):c.1242C>T (p.Asp414=)
|
rs142839559
|
0.00025
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00022
|
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)
|
rs63751132
|
0.00021
|
NM_000535.7(PMS2):c.779C>T (p.Ser260Phe)
|
rs777286241
|
0.00020
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
NM_000535.7(PMS2):c.-7T>C
|
rs199660792
|
0.00017
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
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_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
NM_000535.7(PMS2):c.1467G>A (p.Glu489=)
|
rs542522853
|
0.00015
|
NM_000535.7(PMS2):c.1944T>C (p.Phe648=)
|
rs144011908
|
0.00015
|
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)
|
rs63750649
|
0.00013
|
NM_000535.7(PMS2):c.240C>T (p.Phe80=)
|
rs143162541
|
0.00013
|
NM_000535.7(PMS2):c.255G>A (p.Leu85=)
|
rs200491279
|
0.00013
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys)
|
rs376042544
|
0.00012
|
NM_000535.7(PMS2):c.1320A>G (p.Pro440=)
|
rs138697590
|
0.00012
|
NM_000535.7(PMS2):c.2445G>A (p.Ser815=)
|
rs753199796
|
0.00012
|
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys)
|
rs372297364
|
0.00012
|
NM_000535.7(PMS2):c.1248C>A (p.Ser416=)
|
rs780709321
|
0.00011
|
NM_000535.7(PMS2):c.1533G>A (p.Thr511=)
|
rs542520309
|
0.00011
|
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His)
|
rs370236216
|
0.00011
|
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)
|
rs63751300
|
0.00011
|
NM_000535.7(PMS2):c.1689A>G (p.Arg563=)
|
rs551226281
|
0.00011
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
NM_000535.7(PMS2):c.2276-10A>G
|
rs573900018
|
0.00010
|
NM_000535.7(PMS2):c.340C>T (p.Leu114Phe)
|
rs757441871
|
0.00010
|
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)
|
rs114090343
|
0.00010
|
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg)
|
rs151251082
|
0.00010
|
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu)
|
rs587780062
|
0.00010
|
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr)
|
rs63751023
|
0.00009
|
NM_000535.7(PMS2):c.1980C>T (p.Ala660=)
|
rs368928783
|
0.00009
|
NM_000535.7(PMS2):c.993C>T (p.Cys331=)
|
rs186577215
|
0.00009
|
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile)
|
rs373611083
|
0.00008
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
NM_000535.7(PMS2):c.1656T>C (p.His552=)
|
rs113726095
|
0.00008
|
NM_000535.7(PMS2):c.2127C>T (p.Phe709=)
|
rs199943748
|
0.00008
|
NM_000535.7(PMS2):c.735G>T (p.Leu245=)
|
rs373366661
|
0.00008
|
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp)
|
rs530993704
|
0.00008
|
NM_000535.7(PMS2):c.1280G>A (p.Arg427His)
|
rs112902065
|
0.00007
|
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)
|
rs63751211
|
0.00007
|
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln)
|
rs587781909
|
0.00007
|
NM_000535.7(PMS2):c.2175-13T>C
|
rs748722013
|
0.00007
|
NM_000535.7(PMS2):c.226G>C (p.Glu76Gln)
|
rs371682056
|
0.00007
|
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala)
|
rs777095030
|
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_000535.7(PMS2):c.1128A>C (p.Pro376=)
|
rs367774545
|
0.00006
|
NM_000535.7(PMS2):c.1145-10G>A
|
rs533551639
|
0.00006
|
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val)
|
rs587780039
|
0.00006
|
NM_000535.7(PMS2):c.1233A>T (p.Glu411Asp)
|
rs587780040
|
0.00006
|
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp)
|
rs150201462
|
0.00006
|
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg)
|
rs141084758
|
0.00006
|
NM_000535.7(PMS2):c.1500C>T (p.Ser500=)
|
rs116094787
|
0.00006
|
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln)
|
rs368516768
|
0.00006
|
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly)
|
rs143235330
|
0.00006
|
NM_000535.7(PMS2):c.1703C>A (p.Pro568Gln)
|
rs869312801
|
0.00006
|
NM_000535.7(PMS2):c.1937G>T (p.Arg646Met)
|
rs372341850
|
0.00006
|
NM_000535.7(PMS2):c.353+6A>G
|
rs376449640
|
0.00006
|
NM_000535.7(PMS2):c.477G>A (p.Val159=)
|
rs147701251
|
0.00006
|
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)
|
rs587781934
|
0.00006
|
NM_000535.7(PMS2):c.736_740del (p.Leu245_Pro246insTer)
|
rs778352959
|
0.00006
|
NM_000535.7(PMS2):c.741_742insGTGTGTGAAG (p.Ser248fs)
|
rs756653193
|
0.00006
|
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln)
|
rs116314131
|
0.00006
|
NM_000535.7(PMS2):c.-4A>G
|
rs544503598
|
0.00005
|
NM_000535.7(PMS2):c.101G>T (p.Ser34Ile)
|
rs370612538
|
0.00005
|
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly)
|
rs144389038
|
0.00005
|
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser)
|
rs376258383
|
0.00005
|
NM_000535.7(PMS2):c.71A>C (p.His24Pro)
|
rs139233015
|
0.00005
|
NM_000535.7(PMS2):c.738C>G (p.Pro246=)
|
rs202094399
|
0.00005
|
NM_000535.7(PMS2):c.*17G>C
|
rs556089649
|
0.00004
|
NM_000535.7(PMS2):c.1197G>A (p.Lys399=)
|
rs757730609
|
0.00004
|
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly)
|
rs745361721
|
0.00004
|
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg)
|
rs536111818
|
0.00004
|
NM_000535.7(PMS2):c.1239A>G (p.Lys413=)
|
rs1244752544
|
0.00004
|
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala)
|
rs587781382
|
0.00004
|
NM_000535.7(PMS2):c.12T>G (p.Ala4=)
|
rs776136427
|
0.00004
|
NM_000535.7(PMS2):c.13G>C (p.Glu5Gln)
|
rs372539944
|
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.164-16A>G
|
rs887187101
|
0.00004
|
NM_000535.7(PMS2):c.166C>G (p.Leu56Val)
|
rs371011390
|
0.00004
|
NM_000535.7(PMS2):c.178G>A (p.Asp60Asn)
|
rs587782176
|
0.00004
|
NM_000535.7(PMS2):c.1806C>G (p.Ala602=)
|
rs376046767
|
0.00004
|
NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu)
|
rs199700509
|
0.00004
|
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln)
|
rs587780044
|
0.00004
|
NM_000535.7(PMS2):c.1936A>C (p.Arg646=)
|
rs369582237
|
0.00004
|
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr)
|
rs769554577
|
0.00004
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_000535.7(PMS2):c.2049C>T (p.Asn683=)
|
rs752950007
|
0.00004
|
NM_000535.7(PMS2):c.2287G>A (p.Glu763Lys)
|
rs587780051
|
0.00004
|
NM_000535.7(PMS2):c.2334C>T (p.Phe778=)
|
rs768674294
|
0.00004
|
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)
|
rs553286217
|
0.00004
|
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)
|
rs576055272
|
0.00004
|
NM_000535.7(PMS2):c.2358G>C (p.Leu786=)
|
rs535056715
|
0.00004
|
NM_000535.7(PMS2):c.2496C>G (p.Thr832=)
|
rs746653856
|
0.00004
|
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln)
|
rs63751284
|
0.00004
|
NM_000535.7(PMS2):c.422G>C (p.Gly141Ala)
|
rs376931673
|
0.00004
|
NM_000535.7(PMS2):c.455C>G (p.Pro152Arg)
|
rs876660161
|
0.00004
|
NM_000535.7(PMS2):c.475G>A (p.Val159Met)
|
rs142416537
|
0.00004
|
NM_000535.7(PMS2):c.591C>T (p.Gly197=)
|
rs748518694
|
0.00004
|
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser)
|
rs777903002
|
0.00004
|
NM_000535.7(PMS2):c.705+12C>T
|
rs368486366
|
0.00004
|
NM_000535.7(PMS2):c.765C>T (p.Tyr255=)
|
rs573125799
|
0.00004
|
NM_000535.7(PMS2):c.831G>A (p.Thr277=)
|
rs116481522
|
0.00004
|
NM_000535.7(PMS2):c.916G>A (p.Val306Met)
|
rs587780063
|
0.00004
|
NM_000535.7(PMS2):c.961G>A (p.Val321Ile)
|
rs377043696
|
0.00004
|
NM_000535.7(PMS2):c.1041G>A (p.Glu347=)
|
rs150515238
|
0.00003
|
NM_000535.7(PMS2):c.1096G>C (p.Asp366His)
|
rs141769057
|
0.00003
|
NM_000535.7(PMS2):c.1145-16G>A
|
rs576825560
|
0.00003
|
NM_000535.7(PMS2):c.1145-17C>T
|
rs587781110
|
0.00003
|
NM_000535.7(PMS2):c.120G>C (p.Lys40Asn)
|
rs1060504843
|
0.00003
|
NM_000535.7(PMS2):c.1364C>G (p.Ser455Cys)
|
rs748698776
|
0.00003
|
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg)
|
rs146848345
|
0.00003
|
NM_000535.7(PMS2):c.1485G>A (p.Gly495=)
|
rs143865305
|
0.00003
|
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr)
|
rs63750686
|
0.00003
|
NM_000535.7(PMS2):c.1616C>T (p.Ala539Val)
|
rs138222146
|
0.00003
|
NM_000535.7(PMS2):c.1668A>G (p.Glu556=)
|
rs876659780
|
0.00003
|
NM_000535.7(PMS2):c.1675G>A (p.Gly559Arg)
|
rs751153838
|
0.00003
|
NM_000535.7(PMS2):c.1720C>T (p.Pro574Ser)
|
rs758018736
|
0.00003
|
NM_000535.7(PMS2):c.1732C>A (p.Arg578Ser)
|
rs63750534
|
0.00003
|
NM_000535.7(PMS2):c.1837A>C (p.Lys613Gln)
|
rs63751230
|
0.00003
|
NM_000535.7(PMS2):c.1901A>G (p.His634Arg)
|
rs767904893
|
0.00003
|
NM_000535.7(PMS2):c.1954A>T (p.Ile652Phe)
|
rs748927376
|
0.00003
|
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)
|
rs587780045
|
0.00003
|
NM_000535.7(PMS2):c.2006+12A>C
|
rs534044419
|
0.00003
|
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_000535.7(PMS2):c.2167C>T (p.Leu723Phe)
|
rs1456057054
|
0.00003
|
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly)
|
rs587780052
|
0.00003
|
NM_000535.7(PMS2):c.2338C>A (p.Pro780Thr)
|
rs1064796041
|
0.00003
|
NM_000535.7(PMS2):c.2517C>T (p.His839=)
|
rs747600189
|
0.00003
|
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser)
|
rs864622274
|
0.00003
|
NM_000535.7(PMS2):c.2521del (p.Trp841fs)
|
rs886039646
|
0.00003
|
NM_000535.7(PMS2):c.2535T>C (p.His845=)
|
rs876660464
|
0.00003
|
NM_000535.7(PMS2):c.258A>G (p.Lys86=)
|
rs1057520475
|
0.00003
|
NM_000535.7(PMS2):c.355G>A (p.Asp119Asn)
|
rs587781913
|
0.00003
|
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu)
|
rs761748894
|
0.00003
|
NM_000535.7(PMS2):c.408G>A (p.Met136Ile)
|
rs1064794077
|
0.00003
|
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp)
|
rs573374779
|
0.00003
|
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp)
|
rs876661233
|
0.00003
|
NM_000535.7(PMS2):c.681C>T (p.Ile227=)
|
rs188813057
|
0.00003
|
NM_000535.7(PMS2):c.706-4T>C
|
rs769605987
|
0.00003
|
NM_000535.7(PMS2):c.751G>A (p.Val251Met)
|
rs142434011
|
0.00003
|
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp)
|
rs182246929
|
0.00003
|
NM_000535.7(PMS2):c.885G>A (p.Arg295=)
|
rs786201615
|
0.00003
|
NM_000535.7(PMS2):c.886C>T (p.Pro296Ser)
|
rs375553553
|
0.00003
|
NM_000535.7(PMS2):c.88C>A (p.Gln30Lys)
|
rs141577476
|
0.00003
|
NM_000535.7(PMS2):c.903+4T>A
|
rs753803330
|
0.00003
|
NM_000535.7(PMS2):c.904-20A>G
|
rs375114786
|
0.00003
|
NM_000535.7(PMS2):c.915C>T (p.Leu305=)
|
rs767392742
|
0.00003
|
NM_000535.7(PMS2):c.917T>C (p.Val306Ala)
|
rs786201878
|
0.00003
|
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp)
|
rs114185660
|
0.00003
|
NM_000535.7(PMS2):c.-1C>A
|
rs369681753
|
0.00002
|
NM_000535.7(PMS2):c.1048C>T (p.Leu350Phe)
|
rs587782875
|
0.00002
|
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met)
|
rs567102013
|
0.00002
|
NM_000535.7(PMS2):c.1103A>G (p.Asn368Ser)
|
rs777814445
|
0.00002
|
NM_000535.7(PMS2):c.113C>T (p.Ala38Val)
|
rs148270248
|
0.00002
|
NM_000535.7(PMS2):c.1170G>A (p.Ala390=)
|
rs755578413
|
0.00002
|
NM_000535.7(PMS2):c.1309C>T (p.Pro437Ser)
|
rs200726484
|
0.00002
|
NM_000535.7(PMS2):c.1318C>G (p.Pro440Ala)
|
rs762894051
|
0.00002
|
NM_000535.7(PMS2):c.133A>G (p.Asn45Asp)
|
rs1402531091
|
0.00002
|
NM_000535.7(PMS2):c.1357A>G (p.Met453Val)
|
rs587780722
|
0.00002
|
NM_000535.7(PMS2):c.1372A>C (p.Thr458Pro)
|
rs779306532
|
0.00002
|
NM_000535.7(PMS2):c.139C>G (p.Leu47Val)
|
rs766203500
|
0.00002
|
NM_000535.7(PMS2):c.1435C>G (p.His479Asp)
|
rs376344586
|
0.00002
|
NM_000535.7(PMS2):c.1470G>A (p.Val490=)
|
rs786203076
|
0.00002
|
NM_000535.7(PMS2):c.1480T>G (p.Ser494Ala)
|
rs587782500
|
0.00002
|
NM_000535.7(PMS2):c.1499C>G (p.Ser500Cys)
|
rs375905814
|
0.00002
|
NM_000535.7(PMS2):c.149G>A (p.Gly50Asp)
|
rs539285592
|
0.00002
|
NM_000535.7(PMS2):c.1539T>C (p.Ser513=)
|
rs786202950
|
0.00002
|
NM_000535.7(PMS2):c.1598T>C (p.Val533Ala)
|
rs1365849986
|
0.00002
|
NM_000535.7(PMS2):c.1629C>T (p.Asp543=)
|
rs111673299
|
0.00002
|
NM_000535.7(PMS2):c.164-107G>A
|
rs1368586199
|
0.00002
|
NM_000535.7(PMS2):c.1680T>C (p.Cys560=)
|
rs752143026
|
0.00002
|
NM_000535.7(PMS2):c.1729A>G (p.Lys577Glu)
|
rs754339271
|
0.00002
|
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)
|
rs63750451
|
0.00002
|
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys)
|
rs778531080
|
0.00002
|
NM_000535.7(PMS2):c.2174+6T>C
|
rs587780050
|
0.00002
|
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val)
|
rs150630090
|
0.00002
|
NM_000535.7(PMS2):c.2217G>A (p.Leu739=)
|
rs752718686
|
0.00002
|
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr)
|
rs587782671
|
0.00002
|
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr)
|
rs386833410
|
0.00002
|
NM_000535.7(PMS2):c.23+7G>C
|
rs878854047
|
0.00002
|
NM_000535.7(PMS2):c.2349C>T (p.Val783=)
|
rs751036491
|
0.00002
|
NM_000535.7(PMS2):c.24-3T>C
|
rs749485884
|
0.00002
|
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
NM_000535.7(PMS2):c.2447T>A (p.Val816Glu)
|
rs1060503140
|
0.00002
|
NM_000535.7(PMS2):c.2453T>C (p.Ile818Thr)
|
rs786202876
|
0.00002
|
NM_000535.7(PMS2):c.2497C>T (p.His833Tyr)
|
rs777470381
|
0.00002
|
NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr)
|
rs574371474
|
0.00002
|
NM_000535.7(PMS2):c.290A>G (p.Asp97Gly)
|
rs1175866554
|
0.00002
|
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser)
|
rs767775907
|
0.00002
|
NM_000535.7(PMS2):c.378C>T (p.His126=)
|
rs768488890
|
0.00002
|
NM_000535.7(PMS2):c.412G>C (p.Asp138His)
|
rs863224678
|
0.00002
|
NM_000535.7(PMS2):c.433C>A (p.Gln145Lys)
|
rs786204133
|
0.00002
|
NM_000535.7(PMS2):c.537+6G>A
|
rs1358613918
|
0.00002
|
NM_000535.7(PMS2):c.537+9A>G
|
rs759013264
|
0.00002
|
NM_000535.7(PMS2):c.592A>G (p.Ile198Val)
|
rs774629715
|
0.00002
|
NM_000535.7(PMS2):c.598G>A (p.Val200Ile)
|
rs587778620
|
0.00002
|
NM_000535.7(PMS2):c.609C>G (p.Thr203=)
|
rs756293281
|
0.00002
|
NM_000535.7(PMS2):c.648C>G (p.Cys216Trp)
|
rs762387250
|
0.00002
|
NM_000535.7(PMS2):c.702G>A (p.Lys234=)
|
rs876660388
|
0.00002
|
NM_000535.7(PMS2):c.705+3A>G
|
rs764334813
|
0.00002
|
NM_000535.7(PMS2):c.706-13T>C
|
rs730881918
|
0.00002
|
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser)
|
rs587782633
|
0.00002
|
NM_000535.7(PMS2):c.803+19A>G
|
rs761928990
|
0.00002
|
NM_000535.7(PMS2):c.852A>G (p.Ser284=)
|
rs766177007
|
0.00002
|
NM_000535.7(PMS2):c.868T>G (p.Phe290Val)
|
rs587782833
|
0.00002
|
NM_000535.7(PMS2):c.901A>G (p.Lys301Glu)
|
rs757409701
|
0.00002
|
NM_000535.7(PMS2):c.964G>A (p.Val322Ile)
|
rs587782208
|
0.00002
|
NM_000535.7(PMS2):c.972C>A (p.Asn324Lys)
|
rs182085259
|
0.00002
|
NM_000535.7(PMS2):c.989A>G (p.Glu330Gly)
|
rs761913816
|
0.00002
|
NM_000535.7(PMS2):c.-18G>C
|
rs200624125
|
0.00001
|
NM_000535.7(PMS2):c.-19C>T
|
rs769408250
|
0.00001
|
NM_000535.7(PMS2):c.-6G>A
|
rs1260600705
|
0.00001
|
NM_000535.7(PMS2):c.-7_-5del
|
rs1064794112
|
0.00001
|
NM_000535.7(PMS2):c.1014A>G (p.Pro338=)
|
rs749443737
|
0.00001
|
NM_000535.7(PMS2):c.1027A>G (p.Ile343Val)
|
rs1181117995
|
0.00001
|
NM_000535.7(PMS2):c.1057G>A (p.Ala353Thr)
|
rs587782826
|
0.00001
|
NM_000535.7(PMS2):c.1058C>T (p.Ala353Val)
|
rs543676323
|
0.00001
|
NM_000535.7(PMS2):c.106A>C (p.Ser36Arg)
|
rs587781918
|
0.00001
|
NM_000535.7(PMS2):c.107G>A (p.Ser36Asn)
|
rs876661105
|
0.00001
|
NM_000535.7(PMS2):c.1084A>G (p.Met362Val)
|
rs876659797
|
0.00001
|
NM_000535.7(PMS2):c.108C>A (p.Ser36Arg)
|
rs1368578377
|
0.00001
|
NM_000535.7(PMS2):c.1092T>A (p.Asp364Glu)
|
rs370066853
|
0.00001
|
NM_000535.7(PMS2):c.1095T>C (p.Ser365=)
|
rs763278132
|
0.00001
|
NM_000535.7(PMS2):c.1098T>C (p.Asp366=)
|
rs1554298688
|
0.00001
|
NM_000535.7(PMS2):c.1113T>C (p.Asn371=)
|
rs989130272
|
0.00001
|
NM_000535.7(PMS2):c.1116C>T (p.Val372=)
|
rs876659729
|
0.00001
|
NM_000535.7(PMS2):c.111T>C (p.Thr37=)
|
rs1583418955
|
0.00001
|
NM_000535.7(PMS2):c.1126C>T (p.Pro376Ser)
|
rs730881911
|
0.00001
|
NM_000535.7(PMS2):c.1134G>T (p.Leu378=)
|
rs754576828
|
0.00001
|
NM_000535.7(PMS2):c.1136A>T (p.Asp379Val)
|
rs536031711
|
0.00001
|
NM_000535.7(PMS2):c.1139T>G (p.Val380Gly)
|
rs748971523
|
0.00001
|
NM_000535.7(PMS2):c.1144+1G>A
|
rs373885654
|
0.00001
|
NM_000535.7(PMS2):c.1144+3A>G
|
rs1430015665
|
0.00001
|
NM_000535.7(PMS2):c.114G>A (p.Ala38=)
|
rs558032755
|
0.00001
|
NM_000535.7(PMS2):c.1164T>A (p.His388Gln)
|
rs768480216
|
0.00001
|
NM_000535.7(PMS2):c.1167A>G (p.Ala389=)
|
rs748920792
|
0.00001
|
NM_000535.7(PMS2):c.1183C>T (p.Pro395Ser)
|
rs745306528
|
0.00001
|
NM_000535.7(PMS2):c.1186A>G (p.Met396Val)
|
rs863224675
|
0.00001
|
NM_000535.7(PMS2):c.1189G>A (p.Val397Ile)
|
rs573123885
|
0.00001
|
NM_000535.7(PMS2):c.118A>G (p.Lys40Glu)
|
rs786202542
|
0.00001
|
NM_000535.7(PMS2):c.1192G>C (p.Glu398Gln)
|
rs1171400724
|
0.00001
|
NM_000535.7(PMS2):c.1201G>C (p.Asp401His)
|
rs1284362486
|
0.00001
|
NM_000535.7(PMS2):c.1223C>T (p.Thr408Ile)
|
rs1347299632
|
0.00001
|
NM_000535.7(PMS2):c.1225G>C (p.Gly409Arg)
|
rs864622553
|
0.00001
|
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr)
|
rs370752614
|
0.00001
|
NM_000535.7(PMS2):c.1250T>C (p.Ile417Thr)
|
rs1451465095
|
0.00001
|
NM_000535.7(PMS2):c.1252T>G (p.Ser418Ala)
|
rs1473720483
|
0.00001
|
NM_000535.7(PMS2):c.1253C>T (p.Ser418Phe)
|
rs587782640
|
0.00001
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
NM_000535.7(PMS2):c.1262G>A (p.Arg421Gln)
|
rs778482303
|
0.00001
|
NM_000535.7(PMS2):c.1264G>A (p.Glu422Lys)
|
rs587782175
|
0.00001
|
NM_000535.7(PMS2):c.1267G>T (p.Ala423Ser)
|
rs587778619
|
0.00001
|
NM_000535.7(PMS2):c.1281T>A (p.Arg427=)
|
rs570853668
|
0.00001
|
NM_000535.7(PMS2):c.1297A>G (p.Lys433Glu)
|
rs863224496
|
0.00001
|
NM_000535.7(PMS2):c.1299G>A (p.Lys433=)
|
rs760727820
|
0.00001
|
NM_000535.7(PMS2):c.1300C>T (p.Pro434Ser)
|
rs1583321885
|
0.00001
|
NM_000535.7(PMS2):c.1305C>T (p.His435=)
|
rs763954903
|
0.00001
|
NM_000535.7(PMS2):c.130G>C (p.Glu44Gln)
|
rs786202669
|
0.00001
|
NM_000535.7(PMS2):c.1316C>T (p.Thr439Ile)
|
rs1187749040
|
0.00001
|
NM_000535.7(PMS2):c.1344A>T (p.Gly448=)
|
rs759192470
|
0.00001
|
NM_000535.7(PMS2):c.1345C>G (p.Gln449Glu)
|
rs876661256
|
0.00001
|
NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys)
|
rs876660834
|
0.00001
|
NM_000535.7(PMS2):c.1356T>C (p.Gly452=)
|
rs786202946
|
0.00001
|
NM_000535.7(PMS2):c.1360C>T (p.Leu454=)
|
rs1338448094
|
0.00001
|
NM_000535.7(PMS2):c.1361T>C (p.Leu454Pro)
|
rs772659239
|
0.00001
|
NM_000535.7(PMS2):c.1363T>C (p.Ser455Pro)
|
rs1554297839
|
0.00001
|
NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe)
|
rs748698776
|
0.00001
|
NM_000535.7(PMS2):c.1368T>C (p.Ser456=)
|
rs587780723
|
0.00001
|
NM_000535.7(PMS2):c.1384A>G (p.Ile462Val)
|
rs200116037
|
0.00001
|
NM_000535.7(PMS2):c.1386C>T (p.Ile462=)
|
rs750448069
|
0.00001
|
NM_000535.7(PMS2):c.1390G>A (p.Asp464Asn)
|
rs1394213772
|
0.00001
|
NM_000535.7(PMS2):c.1397G>C (p.Gly466Ala)
|
rs1339878885
|
0.00001
|
NM_000535.7(PMS2):c.1398C>T (p.Gly466=)
|
rs752666485
|
0.00001
|
NM_000535.7(PMS2):c.1411C>T (p.Gln471Ter)
|
rs63751228
|
0.00001
|
NM_000535.7(PMS2):c.1416A>G (p.Lys472=)
|
rs1273167619
|
0.00001
|
NM_000535.7(PMS2):c.1417G>A (p.Glu473Lys)
|
rs786203427
|
0.00001
|
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser)
|
rs373114291
|
0.00001
|
NM_000535.7(PMS2):c.1433G>A (p.Ser478Asn)
|
rs748643694
|
0.00001
|
NM_000535.7(PMS2):c.1444A>G (p.Ser482Gly)
|
rs786203510
|
0.00001
|
NM_000535.7(PMS2):c.1450C>A (p.Pro484Thr)
|
rs752122569
|
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.1464G>A (p.Ala488=)
|
rs754945468
|
0.00001
|
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)
|
rs1064794577
|
0.00001
|
NM_000535.7(PMS2):c.1477G>A (p.Asp493Asn)
|
rs148642064
|
0.00001
|
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu)
|
rs587782602
|
0.00001
|
NM_000535.7(PMS2):c.1494C>T (p.Ser498=)
|
rs770181766
|
0.00001
|
NM_000535.7(PMS2):c.14A>T (p.Glu5Val)
|
rs876659080
|
0.00001
|
NM_000535.7(PMS2):c.1506T>C (p.Asp502=)
|
rs63750354
|
0.00001
|
NM_000535.7(PMS2):c.1508C>A (p.Ser503Tyr)
|
rs777920014
|
0.00001
|
NM_000535.7(PMS2):c.1512G>A (p.Glu504=)
|
rs1783067092
|
0.00001
|
NM_000535.7(PMS2):c.1515G>A (p.Gly505=)
|
rs753856135
|
0.00001
|
NM_000535.7(PMS2):c.1519A>G (p.Ser507Gly)
|
rs63751028
|
0.00001
|
NM_000535.7(PMS2):c.1520G>A (p.Ser507Asn)
|
rs766256390
|
0.00001
|
NM_000535.7(PMS2):c.1530C>T (p.Asp510=)
|
rs63750826
|
0.00001
|
NM_000535.7(PMS2):c.1542C>T (p.His514=)
|
rs763694602
|
0.00001
|
NM_000535.7(PMS2):c.1551C>A (p.Ser517Arg)
|
rs587782479
|
0.00001
|
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys)
|
rs376142390
|
0.00001
|
NM_000535.7(PMS2):c.1582G>A (p.Gly528Ser)
|
rs1354150928
|
0.00001
|
NM_000535.7(PMS2):c.1586C>T (p.Ser529Leu)
|
rs876658794
|
0.00001
|
NM_000535.7(PMS2):c.1587G>A (p.Ser529=)
|
rs786201709
|
0.00001
|
NM_000535.7(PMS2):c.1591G>T (p.Glu531Ter)
|
rs878854037
|
0.00001
|
NM_000535.7(PMS2):c.1602C>G (p.Asp534Glu)
|
rs1554297497
|
0.00001
|
NM_000535.7(PMS2):c.1617G>T (p.Ala539=)
|
rs776931237
|
0.00001
|
NM_000535.7(PMS2):c.1624A>C (p.Thr542Pro)
|
rs1425816147
|
0.00001
|
NM_000535.7(PMS2):c.163+4A>G
|
rs864622749
|
0.00001
|
NM_000535.7(PMS2):c.1630G>A (p.Asp544Asn)
|
rs876660139
|
0.00001
|
NM_000535.7(PMS2):c.164-11A>T
|
rs763662038
|
0.00001
|
NM_000535.7(PMS2):c.164-1G>A
|
rs763308607
|
0.00001
|
NM_000535.7(PMS2):c.1642G>A (p.Asp548Asn)
|
rs374591423
|
0.00001
|
NM_000535.7(PMS2):c.1674C>T (p.Thr558=)
|
rs876658134
|
0.00001
|
NM_000535.7(PMS2):c.1678T>A (p.Cys560Ser)
|
rs370455197
|
0.00001
|
NM_000535.7(PMS2):c.1682A>C (p.Lys561Thr)
|
rs876658481
|
0.00001
|
NM_000535.7(PMS2):c.1686T>G (p.Phe562Leu)
|
rs764749700
|
0.00001
|
NM_000535.7(PMS2):c.1687C>A (p.Arg563=)
|
rs587778618
|
0.00001
|
NM_000535.7(PMS2):c.1705A>G (p.Thr569Ala)
|
rs762151417
|
0.00001
|
NM_000535.7(PMS2):c.1713C>T (p.Leu571=)
|
rs745774944
|
0.00001
|
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val)
|
rs770625733
|
0.00001
|
NM_000535.7(PMS2):c.1720C>G (p.Pro574Ala)
|
rs758018736
|
0.00001
|
NM_000535.7(PMS2):c.1723A>G (p.Asn575Asp)
|
rs142506484
|
0.00001
|
NM_000535.7(PMS2):c.1724A>G (p.Asn575Ser)
|
rs1424781748
|
0.00001
|
NM_000535.7(PMS2):c.1728A>G (p.Thr576=)
|
rs754542046
|
0.00001
|
NM_000535.7(PMS2):c.1729A>C (p.Lys577Gln)
|
rs754339271
|
0.00001
|
NM_000535.7(PMS2):c.172C>T (p.Leu58Phe)
|
rs1465172427
|
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.1761T>G (p.Ser587Arg)
|
rs1311237867
|
0.00001
|
NM_000535.7(PMS2):c.1765G>C (p.Asp589His)
|
rs749727182
|
0.00001
|
NM_000535.7(PMS2):c.1777A>C (p.Lys593Gln)
|
rs1212790997
|
0.00001
|
NM_000535.7(PMS2):c.1797C>T (p.Asp599=)
|
rs1261280629
|
0.00001
|
NM_000535.7(PMS2):c.1798A>G (p.Met600Val)
|
rs1304634005
|
0.00001
|
NM_000535.7(PMS2):c.1810C>A (p.Gln604Lys)
|
rs1064793426
|
0.00001
|
NM_000535.7(PMS2):c.1819G>A (p.Val607Ile)
|
rs786204109
|
0.00001
|
NM_000535.7(PMS2):c.182A>G (p.Tyr61Cys)
|
rs773109986
|
0.00001
|
NM_000535.7(PMS2):c.1835A>G (p.Asn612Ser)
|
rs1583314932
|
0.00001
|
NM_000535.7(PMS2):c.1850C>T (p.Pro617Leu)
|
rs747785888
|
0.00001
|
NM_000535.7(PMS2):c.1855G>T (p.Asp619Tyr)
|
rs1179605136
|
0.00001
|
NM_000535.7(PMS2):c.1864A>T (p.Met622Leu)
|
rs370853512
|
0.00001
|
NM_000535.7(PMS2):c.1876G>A (p.Ala626Thr)
|
rs587779331
|
0.00001
|
NM_000535.7(PMS2):c.187G>A (p.Val63Met)
|
rs772216832
|
0.00001
|
NM_000535.7(PMS2):c.190G>A (p.Asp64Asn)
|
rs1583410797
|
0.00001
|
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys)
|
rs886062400
|
0.00001
|
NM_000535.7(PMS2):c.1926A>G (p.Glu642=)
|
rs765262682
|
0.00001
|
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)
|
rs63751422
|
0.00001
|
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg)
|
rs760629688
|
0.00001
|
NM_000535.7(PMS2):c.1929G>T (p.Gln643His)
|
rs786203379
|
0.00001
|
NM_000535.7(PMS2):c.1931A>G (p.Asn644Ser)
|
rs267608166
|
0.00001
|
NM_000535.7(PMS2):c.1935C>T (p.Tyr645=)
|
rs786201737
|
0.00001
|
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg)
|
rs267608167
|
0.00001
|
NM_000535.7(PMS2):c.1953G>T (p.Lys651Asn)
|
rs1488971334
|
0.00001
|
NM_000535.7(PMS2):c.1962T>C (p.Pro654=)
|
rs1782925759
|
0.00001
|
NM_000535.7(PMS2):c.1963G>A (p.Gly655Arg)
|
rs1064793236
|
0.00001
|
NM_000535.7(PMS2):c.1967A>G (p.Glu656Gly)
|
rs1481127167
|
0.00001
|
NM_000535.7(PMS2):c.1995A>G (p.Arg665=)
|
rs781780543
|
0.00001
|
NM_000535.7(PMS2):c.2007-2A>C
|
rs587782336
|
0.00001
|
NM_000535.7(PMS2):c.2010A>G (p.Lys670=)
|
rs745305784
|
0.00001
|
NM_000535.7(PMS2):c.2013G>A (p.Thr671=)
|
rs771513870
|
0.00001
|
NM_000535.7(PMS2):c.2033T>C (p.Ile678Thr)
|
rs587782553
|
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.2038G>A (p.Gly680Ser)
|
rs1182717826
|
0.00001
|
NM_000535.7(PMS2):c.2050C>T (p.Leu684=)
|
rs1410726810
|
0.00001
|
NM_000535.7(PMS2):c.2055A>G (p.Gly685=)
|
rs786202005
|
0.00001
|
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val)
|
rs1060503144
|
0.00001
|
NM_000535.7(PMS2):c.2081A>T (p.Asp694Val)
|
rs1554295876
|
0.00001
|
NM_000535.7(PMS2):c.2092G>C (p.Val698Leu)
|
rs751551006
|
0.00001
|
NM_000535.7(PMS2):c.2106C>T (p.Ala702=)
|
rs786202273
|
0.00001
|
NM_000535.7(PMS2):c.2109G>A (p.Thr703=)
|
rs775355718
|
0.00001
|
NM_000535.7(PMS2):c.2112C>T (p.Asp704=)
|
rs764735061
|
0.00001
|
NM_000535.7(PMS2):c.2128G>A (p.Glu710Lys)
|
rs1060503131
|
0.00001
|
NM_000535.7(PMS2):c.2148C>T (p.Thr716=)
|
rs748404138
|
0.00001
|
NM_000535.7(PMS2):c.2152C>T (p.Leu718Phe)
|
rs139765160
|
0.00001
|
NM_000535.7(PMS2):c.2154C>T (p.Leu718=)
|
rs749554813
|
0.00001
|
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter)
|
rs876659480
|
0.00001
|
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)
|
rs730881915
|
0.00001
|
NM_000535.7(PMS2):c.2164A>G (p.Arg722Gly)
|
rs1284646352
|
0.00001
|
NM_000535.7(PMS2):c.2174+1G>A
|
rs267608172
|
0.00001
|
NM_000535.7(PMS2):c.2175A>G (p.Ala725=)
|
rs769116749
|
0.00001
|
NM_000535.7(PMS2):c.2177C>T (p.Pro726Leu)
|
rs876658439
|
0.00001
|
NM_000535.7(PMS2):c.2179C>G (p.Gln727Glu)
|
rs786202202
|
0.00001
|
NM_000535.7(PMS2):c.2199T>C (p.Ala733=)
|
rs876658952
|
0.00001
|
NM_000535.7(PMS2):c.2207A>C (p.Glu736Ala)
|
rs1060503115
|
0.00001
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
NM_000535.7(PMS2):c.2250C>A (p.Gly750=)
|
rs1199360335
|
0.00001
|
NM_000535.7(PMS2):c.2265C>T (p.Ile755=)
|
rs145646046
|
0.00001
|
NM_000535.7(PMS2):c.2266G>T (p.Asp756Tyr)
|
rs762206330
|
0.00001
|
NM_000535.7(PMS2):c.2271A>G (p.Glu757=)
|
rs1476682377
|
0.00001
|
NM_000535.7(PMS2):c.2275+5G>A
|
rs1583285249
|
0.00001
|
NM_000535.7(PMS2):c.2276-14T>C
|
rs1178201870
|
0.00001
|
NM_000535.7(PMS2):c.2281G>C (p.Val761Leu)
|
rs201914670
|
0.00001
|
NM_000535.7(PMS2):c.2286T>G (p.Thr762=)
|
rs1441195977
|
0.00001
|
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys)
|
rs751235177
|
0.00001
|
NM_000535.7(PMS2):c.23+11C>T
|
rs1554308925
|
0.00001
|
NM_000535.7(PMS2):c.23+1G>T
|
rs587782074
|
0.00001
|
NM_000535.7(PMS2):c.23+21T>C
|
rs751482162
|
0.00001
|
NM_000535.7(PMS2):c.23+6C>A
|
rs779104357
|
0.00001
|
NM_000535.7(PMS2):c.23+9G>A
|
rs1046717239
|
0.00001
|
NM_000535.7(PMS2):c.2316T>C (p.Thr772=)
|
rs776971541
|
0.00001
|
NM_000535.7(PMS2):c.2332T>A (p.Phe778Ile)
|
rs876660374
|
0.00001
|
NM_000535.7(PMS2):c.2335G>A (p.Gly779Arg)
|
rs587780053
|
0.00001
|
NM_000535.7(PMS2):c.2345A>G (p.Asp782Gly)
|
rs745500014
|
0.00001
|
NM_000535.7(PMS2):c.2346C>T (p.Asp782=)
|
rs139031103
|
0.00001
|
NM_000535.7(PMS2):c.2359A>T (p.Ile787Phe)
|
rs191300933
|
0.00001
|
NM_000535.7(PMS2):c.2365A>T (p.Met789Leu)
|
rs377259633
|
0.00001
|
NM_000535.7(PMS2):c.2373C>T (p.Ser791=)
|
rs864622765
|
0.00001
|
NM_000535.7(PMS2):c.2374G>A (p.Asp792Asn)
|
rs587781265
|
0.00001
|
NM_000535.7(PMS2):c.2382dup (p.Gly795fs)
|
rs1231406078
|
0.00001
|
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile)
|
rs368737800
|
0.00001
|
NM_000535.7(PMS2):c.2389A>G (p.Met797Val)
|
rs1433888137
|
0.00001
|
NM_000535.7(PMS2):c.2396G>A (p.Arg799Gln)
|
rs587780055
|
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.2412G>C (p.Lys804Asn)
|
rs547715146
|
0.00001
|
NM_000535.7(PMS2):c.2414A>G (p.Gln805Arg)
|
rs967502389
|
0.00001
|
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys)
|
rs730881919
|
0.00001
|
NM_000535.7(PMS2):c.2422G>A (p.Ala808Thr)
|
rs1306035279
|
0.00001
|
NM_000535.7(PMS2):c.2431G>A (p.Ala811Thr)
|
rs1169337656
|
0.00001
|
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu)
|
rs587782665
|
0.00001
|
NM_000535.7(PMS2):c.243A>G (p.Glu81=)
|
rs1057521802
|
0.00001
|
NM_000535.7(PMS2):c.2445+3A>T
|
rs765667554
|
0.00001
|
NM_000535.7(PMS2):c.244G>A (p.Gly82Ser)
|
rs754191682
|
0.00001
|
NM_000535.7(PMS2):c.2469C>T (p.Asn823=)
|
rs878854048
|
0.00001
|
NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys)
|
rs587782828
|
0.00001
|
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)
|
rs1064794083
|
0.00001
|
NM_000535.7(PMS2):c.2494A>G (p.Thr832Ala)
|
rs587780056
|
0.00001
|
NM_000535.7(PMS2):c.2506G>A (p.Glu836Lys)
|
rs786201039
|
0.00001
|
NM_000535.7(PMS2):c.251-12A>C
|
rs562762722
|
0.00001
|
NM_000535.7(PMS2):c.251-2A>T
|
rs587779340
|
0.00001
|
NM_000535.7(PMS2):c.251-9C>G
|
rs1064793639
|
0.00001
|
NM_000535.7(PMS2):c.2526C>G (p.Asn842Lys)
|
rs755478893
|
0.00001
|
NM_000535.7(PMS2):c.2567T>G (p.Leu856Arg)
|
rs587782342
|
0.00001
|
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala)
|
rs786202383
|
0.00001
|
NM_000535.7(PMS2):c.267A>G (p.Thr89=)
|
rs876659181
|
0.00001
|
NM_000535.7(PMS2):c.277C>G (p.Gln93Glu)
|
rs1299810000
|
0.00001
|
NM_000535.7(PMS2):c.27A>C (p.Thr9=)
|
rs1060504842
|
0.00001
|
NM_000535.7(PMS2):c.282G>A (p.Glu94=)
|
rs576942328
|
0.00001
|
NM_000535.7(PMS2):c.289G>A (p.Asp97Asn)
|
rs1395998044
|
0.00001
|
NM_000535.7(PMS2):c.299A>C (p.Gln100Pro)
|
rs747771951
|
0.00001
|
NM_000535.7(PMS2):c.29A>C (p.Glu10Ala)
|
rs878854050
|
0.00001
|
NM_000535.7(PMS2):c.2T>C (p.Met1Thr)
|
rs587780059
|
0.00001
|
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp)
|
rs188006077
|
0.00001
|
NM_000535.7(PMS2):c.320G>T (p.Arg107Leu)
|
rs63751284
|
0.00001
|
NM_000535.7(PMS2):c.322G>C (p.Gly108Arg)
|
rs750866397
|
0.00001
|
NM_000535.7(PMS2):c.328G>A (p.Ala110Thr)
|
rs767775907
|
0.00001
|
NM_000535.7(PMS2):c.339A>T (p.Ser113=)
|
rs951573893
|
0.00001
|
NM_000535.7(PMS2):c.33T>A (p.Pro11=)
|
rs780178572
|
0.00001
|
NM_000535.7(PMS2):c.342T>C (p.Leu114=)
|
rs1205203356
|
0.00001
|
NM_000535.7(PMS2):c.344G>T (p.Cys115Phe)
|
rs1263334638
|
0.00001
|
NM_000535.7(PMS2):c.346G>A (p.Ala116Thr)
|
rs751799116
|
0.00001
|
NM_000535.7(PMS2):c.34G>A (p.Ala12Thr)
|
rs1481967985
|
0.00001
|
NM_000535.7(PMS2):c.353+3G>A
|
rs766373982
|
0.00001
|
NM_000535.7(PMS2):c.353+4A>G
|
rs760538709
|
0.00001
|
NM_000535.7(PMS2):c.353+7C>A
|
rs1057520512
|
0.00001
|
NM_000535.7(PMS2):c.354-5C>G
|
rs200591010
|
0.00001
|
NM_000535.7(PMS2):c.354-7C>T
|
rs758471869
|
0.00001
|
NM_000535.7(PMS2):c.354C>T (p.Ser118=)
|
rs760615315
|
0.00001
|
NM_000535.7(PMS2):c.357T>C (p.Asp119=)
|
rs1269688714
|
0.00001
|
NM_000535.7(PMS2):c.381A>G (p.Ala127=)
|
rs1060504835
|
0.00001
|
NM_000535.7(PMS2):c.386C>T (p.Ala129Val)
|
rs752284380
|
0.00001
|
NM_000535.7(PMS2):c.392T>C (p.Val131Ala)
|
rs1785226633
|
0.00001
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
0.00001
|
NM_000535.7(PMS2):c.403C>G (p.Leu135Val)
|
rs876658423
|
0.00001
|
NM_000535.7(PMS2):c.418A>G (p.Asn140Asp)
|
rs35911407
|
0.00001
|
NM_000535.7(PMS2):c.448C>G (p.Pro150Ala)
|
rs1060503120
|
0.00001
|
NM_000535.7(PMS2):c.449C>T (p.Pro150Leu)
|
rs778119115
|
0.00001
|
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys)
|
rs758561884
|
0.00001
|
NM_000535.7(PMS2):c.452G>A (p.Arg151His)
|
rs35629870
|
0.00001
|
NM_000535.7(PMS2):c.45C>G (p.Ile15Met)
|
rs876660499
|
0.00001
|
NM_000535.7(PMS2):c.466A>G (p.Thr156Ala)
|
rs786204206
|
0.00001
|
NM_000535.7(PMS2):c.46A>G (p.Lys16Glu)
|
rs777845808
|
0.00001
|
NM_000535.7(PMS2):c.473G>T (p.Ser158Ile)
|
rs750354871
|
0.00001
|
NM_000535.7(PMS2):c.474C>T (p.Ser158=)
|
rs767414243
|
0.00001
|
NM_000535.7(PMS2):c.479A>G (p.Gln160Arg)
|
rs1554303922
|
0.00001
|
NM_000535.7(PMS2):c.47A>G (p.Lys16Arg)
|
rs1554306581
|
0.00001
|
NM_000535.7(PMS2):c.480G>A (p.Gln160=)
|
rs1426242773
|
0.00001
|
NM_000535.7(PMS2):c.494C>T (p.Thr165Ile)
|
rs587781541
|
0.00001
|
NM_000535.7(PMS2):c.496C>T (p.Leu166=)
|
rs876659249
|
0.00001
|
NM_000535.7(PMS2):c.502G>A (p.Val168Met)
|
rs762645507
|
0.00001
|
NM_000535.7(PMS2):c.506G>A (p.Arg169His)
|
rs730881917
|
0.00001
|
NM_000535.7(PMS2):c.513G>A (p.Lys171=)
|
rs1280423254
|
0.00001
|
NM_000535.7(PMS2):c.523A>G (p.Arg175Gly)
|
rs1395650223
|
0.00001
|
NM_000535.7(PMS2):c.528T>C (p.Asn176=)
|
rs1057523374
|
0.00001
|
NM_000535.7(PMS2):c.529A>G (p.Ile177Val)
|
rs1377323953
|
0.00001
|
NM_000535.7(PMS2):c.537+17C>T
|
rs548285941
|
0.00001
|
NM_000535.7(PMS2):c.537+4C>T
|
rs864622272
|
0.00001
|
NM_000535.7(PMS2):c.538-16T>G
|
rs763941291
|
0.00001
|
NM_000535.7(PMS2):c.538-1G>C
|
rs988423880
|
0.00001
|
NM_000535.7(PMS2):c.538-2A>G
|
rs758304323
|
0.00001
|
NM_000535.7(PMS2):c.573C>T (p.Tyr191=)
|
rs761134229
|
0.00001
|
NM_000535.7(PMS2):c.574T>G (p.Cys192Gly)
|
rs773752935
|
0.00001
|
NM_000535.7(PMS2):c.575G>A (p.Cys192Tyr)
|
rs772404945
|
0.00001
|
NM_000535.7(PMS2):c.577A>G (p.Ile193Val)
|
rs1784819145
|
0.00001
|
NM_000535.7(PMS2):c.593dup (p.Arg199fs)
|
rs267608148
|
0.00001
|
NM_000535.7(PMS2):c.596G>A (p.Arg199His)
|
rs876658387
|
0.00001
|
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser)
|
rs779946576
|
0.00001
|
NM_000535.7(PMS2):c.610A>G (p.Asn204Asp)
|
rs746910555
|
0.00001
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
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.647G>T (p.Cys216Phe)
|
rs730881908
|
0.00001
|
NM_000535.7(PMS2):c.650C>T (p.Thr217Ile)
|
rs774519794
|
0.00001
|
NM_000535.7(PMS2):c.653G>A (p.Gly218Asp)
|
rs368043334
|
0.00001
|
NM_000535.7(PMS2):c.667A>G (p.Ile223Val)
|
rs876660067
|
0.00001
|
NM_000535.7(PMS2):c.67G>C (p.Val23Leu)
|
rs374830220
|
0.00001
|
NM_000535.7(PMS2):c.687T>C (p.Ser229=)
|
rs786201508
|
0.00001
|
NM_000535.7(PMS2):c.6G>A (p.Glu2=)
|
rs774177383
|
0.00001
|
NM_000535.7(PMS2):c.705+13G>A
|
rs776790763
|
0.00001
|
NM_000535.7(PMS2):c.706-2A>G
|
rs745487791
|
0.00001
|
NM_000535.7(PMS2):c.706-2dup
|
rs1490493105
|
0.00001
|
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)
|
rs1458321358
|
0.00001
|
NM_000535.7(PMS2):c.711A>G (p.Gln237=)
|
rs368608818
|
0.00001
|
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn)
|
rs1060503111
|
0.00001
|
NM_000535.7(PMS2):c.720T>A (p.Ile240=)
|
rs777148436
|
0.00001
|
NM_000535.7(PMS2):c.733C>A (p.Leu245Met)
|
rs201375580
|
0.00001
|
NM_000535.7(PMS2):c.737C>G (p.Pro246Arg)
|
rs1562670885
|
0.00001
|
NM_000535.7(PMS2):c.740C>G (p.Pro247Arg)
|
rs1173245928
|
0.00001
|
NM_000535.7(PMS2):c.748T>C (p.Ser250Pro)
|
rs766690351
|
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.771G>A (p.Leu257=)
|
rs746652254
|
0.00001
|
NM_000535.7(PMS2):c.778T>A (p.Ser260Thr)
|
rs1259974071
|
0.00001
|
NM_000535.7(PMS2):c.791A>G (p.His264Arg)
|
rs1060503129
|
0.00001
|
NM_000535.7(PMS2):c.793A>G (p.Asn265Asp)
|
rs1241742968
|
0.00001
|
NM_000535.7(PMS2):c.794A>G (p.Asn265Ser)
|
rs754164213
|
0.00001
|
NM_000535.7(PMS2):c.795T>C (p.Asn265=)
|
rs766667186
|
0.00001
|
NM_000535.7(PMS2):c.799T>C (p.Phe267Leu)
|
rs876661158
|
0.00001
|
NM_000535.7(PMS2):c.803+4A>G
|
rs756312205
|
0.00001
|
NM_000535.7(PMS2):c.804-15A>G
|
rs1448706115
|
0.00001
|
NM_000535.7(PMS2):c.804-20A>T
|
rs1057520346
|
0.00001
|
NM_000535.7(PMS2):c.804-2A>G
|
rs1307026290
|
0.00001
|
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)
|
rs786201047
|
0.00001
|
NM_000535.7(PMS2):c.825A>G (p.Gln275=)
|
rs876659736
|
0.00001
|
NM_000535.7(PMS2):c.825A>T (p.Gln275His)
|
rs876659736
|
0.00001
|
NM_000535.7(PMS2):c.826T>C (p.Cys276Arg)
|
rs1407229027
|
0.00001
|
NM_000535.7(PMS2):c.82T>C (p.Ser28Pro)
|
rs587781908
|
0.00001
|
NM_000535.7(PMS2):c.844A>G (p.Arg282Gly)
|
rs1554300793
|
0.00001
|
NM_000535.7(PMS2):c.847A>C (p.Ser283Arg)
|
rs876660871
|
0.00001
|
NM_000535.7(PMS2):c.878A>G (p.Asn293Ser)
|
rs1274671450
|
0.00001
|
NM_000535.7(PMS2):c.87G>A (p.Gly29=)
|
rs876659642
|
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.884G>A (p.Arg295Gln)
|
rs369763423
|
0.00001
|
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg)
|
rs56203955
|
0.00001
|
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln)
|
rs375507981
|
0.00001
|
NM_000535.7(PMS2):c.903+20G>C
|
rs750189082
|
0.00001
|
NM_000535.7(PMS2):c.904-11A>G
|
rs748113698
|
0.00001
|
NM_000535.7(PMS2):c.904-17C>A
|
rs758503886
|
0.00001
|
NM_000535.7(PMS2):c.904-5T>G
|
rs1159396042
|
0.00001
|
NM_000535.7(PMS2):c.904G>T (p.Val302Phe)
|
rs755960629
|
0.00001
|
NM_000535.7(PMS2):c.908G>A (p.Cys303Tyr)
|
rs1562652063
|
0.00001
|
NM_000535.7(PMS2):c.913C>G (p.Leu305Val)
|
rs750420143
|
0.00001
|
NM_000535.7(PMS2):c.932A>G (p.His311Arg)
|
rs1562651786
|
0.00001
|
NM_000535.7(PMS2):c.934A>G (p.Met312Val)
|
rs786202567
|
0.00001
|
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
|
rs200640585
|
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_000535.7(PMS2):c.988+4A>G
|
rs763959308
|
0.00001
|
NM_000535.7(PMS2):c.989-5C>T
|
rs1401221727
|
0.00001
|
NM_000535.7(PMS2):c.994G>A (p.Val332Ile)
|
rs1236095389
|
0.00001
|
NM_000535.7(PMS2):c.9A>G (p.Arg3=)
|
rs1554309048
|
0.00001
|
NM_000535.5:c.(537+1_538-1)_(2445+1_2446-1)dup
|
|
|
NM_000535.5:c.1274_1275insALU
|
|
|
NM_000535.5:c.804-60_804-59insSVA
|
|
|
NM_000535.5:c.804-64_804-63insSVA
|
|
|
NM_000535.6(PMS2):c.(?-1)_(*1_?)del
|
|
|
NM_000535.6(PMS2):c.1610_1611ins18 (p.?)
|
|
|
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs)
|
rs1554294508
|
|
NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)
|
|
|
NM_000535.7(PMS2):c.*2C>G
|
|
|
NM_000535.7(PMS2):c.*2C>T
|
rs764124442
|
|
NM_000535.7(PMS2):c.*3G>A
|
rs776493195
|
|
NM_000535.7(PMS2):c.*3G>C
|
rs776493195
|
|
NM_000535.7(PMS2):c.*3G>T
|
rs776493195
|
|
NM_000535.7(PMS2):c.-12G>A
|
rs1208325722
|
|
NM_000535.7(PMS2):c.-13G>A
|
|
|
NM_000535.7(PMS2):c.-14C>G
|
rs757845032
|
|
NM_000535.7(PMS2):c.-16A>G
|
rs1786268058
|
|
NM_000535.7(PMS2):c.-17G>T
|
rs1017353894
|
|
NM_000535.7(PMS2):c.-18G>A
|
rs200624125
|
|
NM_000535.7(PMS2):c.-1C>G
|
|
|
NM_000535.7(PMS2):c.-1C>T
|
rs369681753
|
|
NM_000535.7(PMS2):c.-20G>A
|
rs1340897315
|
|
NM_000535.7(PMS2):c.-2C>A
|
rs876658209
|
|
NM_000535.7(PMS2):c.-2C>G
|
|
|
NM_000535.7(PMS2):c.-2C>T
|
rs876658209
|
|
NM_000535.7(PMS2):c.-3T>G
|
|
|
NM_000535.7(PMS2):c.-5C>A
|
rs786202272
|
|
NM_000535.7(PMS2):c.-5C>G
|
|
|
NM_000535.7(PMS2):c.-8_-6del
|
rs755165788
|
|
NM_000535.7(PMS2):c.-9G>C
|
rs778155088
|
|
NM_000535.7(PMS2):c.1000A>G (p.Ile334Val)
|
rs1448106115
|
|
NM_000535.7(PMS2):c.1001T>C (p.Ile334Thr)
|
rs1234321567
|
|
NM_000535.7(PMS2):c.1002C>T (p.Ile334=)
|
|
|
NM_000535.7(PMS2):c.1003A>G (p.Asn335Asp)
|
rs1783551937
|
|
NM_000535.7(PMS2):c.1004A>T (p.Asn335Ile)
|
rs200513014
|
|
NM_000535.7(PMS2):c.1007T>C (p.Val336Ala)
|
|
|
NM_000535.7(PMS2):c.1008T>G (p.Val336=)
|
rs1057521429
|
|
NM_000535.7(PMS2):c.1009A>G (p.Thr337Ala)
|
|
|
NM_000535.7(PMS2):c.100A>C (p.Ser34Arg)
|
rs730881912
|
|
NM_000535.7(PMS2):c.100A>G (p.Ser34Gly)
|
rs730881912
|
|
NM_000535.7(PMS2):c.1010_1024delinsTCATTTTGCTACAAGAGG (p.Thr337_Gln342delinsIleIleLeuLeuGlnGluGlu)
|
|
|
NM_000535.7(PMS2):c.1010del (p.Thr337fs)
|
|
|
NM_000535.7(PMS2):c.1011T>C (p.Thr337=)
|
rs1353232685
|
|
NM_000535.7(PMS2):c.1011T>G (p.Thr337=)
|
|
|
NM_000535.7(PMS2):c.1012C>A (p.Pro338Thr)
|
|
|
NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala)
|
rs876660508
|
|
NM_000535.7(PMS2):c.1017_1018insG (p.Lys340fs)
|
|
|
NM_000535.7(PMS2):c.101G>A (p.Ser34Asn)
|
rs370612538
|
|
NM_000535.7(PMS2):c.101G>C (p.Ser34Thr)
|
rs370612538
|
|
NM_000535.7(PMS2):c.1020A>G (p.Lys340=)
|
|
|
NM_000535.7(PMS2):c.1021del (p.Arg341fs)
|
rs63750049
|
|
NM_000535.7(PMS2):c.1021dup (p.Arg341fs)
|
|
|
NM_000535.7(PMS2):c.1022G>C (p.Arg341Thr)
|
rs1554298800
|
|
NM_000535.7(PMS2):c.1022G>T (p.Arg341Met)
|
|
|
NM_000535.7(PMS2):c.1023G>A (p.Arg341=)
|
rs746961377
|
|
NM_000535.7(PMS2):c.1023G>T (p.Arg341Ser)
|
|
|
NM_000535.7(PMS2):c.1024C>T (p.Gln342Ter)
|
|
|
NM_000535.7(PMS2):c.1024del (p.Gln342fs)
|
|
|
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.1028T>G (p.Ile343Ser)
|
rs1783541846
|
|
NM_000535.7(PMS2):c.1032G>A (p.Leu344=)
|
rs1554298791
|
|
NM_000535.7(PMS2):c.1032G>C (p.Leu344Phe)
|
rs1554298791
|
|
NM_000535.7(PMS2):c.1033C>T (p.Leu345=)
|
rs1583335395
|
|
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter)
|
rs1554298786
|
|
NM_000535.7(PMS2):c.1037A>G (p.Gln346Arg)
|
rs752268571
|
|
NM_000535.7(PMS2):c.1040A>G (p.Glu347Gly)
|
rs878854031
|
|
NM_000535.7(PMS2):c.1040del (p.Glu347fs)
|
|
|
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp)
|
rs150515238
|
|
NM_000535.7(PMS2):c.1042G>C (p.Glu348Gln)
|
rs1783538909
|
|
NM_000535.7(PMS2):c.1043A>T (p.Glu348Val)
|
|
|
NM_000535.7(PMS2):c.1046del (p.Lys349fs)
|
|
|
NM_000535.7(PMS2):c.1046dup (p.Leu350fs)
|
|
|
NM_000535.7(PMS2):c.1048C>A (p.Leu350Ile)
|
|
|
NM_000535.7(PMS2):c.104_106dup (p.Leu35_Ser36insIle)
|
|
|
NM_000535.7(PMS2):c.1050T>A (p.Leu350=)
|
|
|
NM_000535.7(PMS2):c.1051T>C (p.Leu351=)
|
rs1554298759
|
|
NM_000535.7(PMS2):c.1051T>G (p.Leu351Val)
|
rs1554298759
|
|
NM_000535.7(PMS2):c.1052T>G (p.Leu351Trp)
|
rs1783536235
|
|
NM_000535.7(PMS2):c.1052del (p.Leu351fs)
|
|
|
NM_000535.7(PMS2):c.1053G>C (p.Leu351Phe)
|
rs1060503145
|
|
NM_000535.7(PMS2):c.1054T>C (p.Leu352=)
|
rs1554298752
|
|
NM_000535.7(PMS2):c.1055T>C (p.Leu352Ser)
|
rs1060503134
|
|
NM_000535.7(PMS2):c.1056G>A (p.Leu352=)
|
|
|
NM_000535.7(PMS2):c.1057G>T (p.Ala353Ser)
|
rs587782826
|
|
NM_000535.7(PMS2):c.1059A>G (p.Ala353=)
|
rs876660930
|
|
NM_000535.7(PMS2):c.105A>G (p.Leu35=)
|
rs947238940
|
|
NM_000535.7(PMS2):c.1060G>A (p.Val354Ile)
|
rs750984324
|
|
NM_000535.7(PMS2):c.1063T>A (p.Leu355Ile)
|
rs1783533003
|
|
NM_000535.7(PMS2):c.1064T>A (p.Leu355Ter)
|
|
|
NM_000535.7(PMS2):c.1064del (p.Val354_Leu355insTer)
|
|
|
NM_000535.7(PMS2):c.1067del (p.Lys356fs)
|
rs587781395
|
|
NM_000535.7(PMS2):c.1068G>A (p.Lys356=)
|
rs528499793
|
|
NM_000535.7(PMS2):c.1068G>T (p.Lys356Asn)
|
rs528499793
|
|
NM_000535.7(PMS2):c.1068del (p.Thr357fs)
|
rs1554298741
|
|
NM_000535.7(PMS2):c.1069A>G (p.Thr357Ala)
|
|
|
NM_000535.7(PMS2):c.106A>G (p.Ser36Gly)
|
rs587781918
|
|
NM_000535.7(PMS2):c.1070C>G (p.Thr357Ser)
|
rs980612510
|
|
NM_000535.7(PMS2):c.1070C>T (p.Thr357Ile)
|
rs980612510
|
|
NM_000535.7(PMS2):c.1071C>G (p.Thr357=)
|
rs1244381746
|
|
NM_000535.7(PMS2):c.1071del (p.Ser358fs)
|
rs1783529876
|
|
NM_000535.7(PMS2):c.1072T>A (p.Ser358Thr)
|
rs767755376
|
|
NM_000535.7(PMS2):c.1072T>G (p.Ser358Ala)
|
rs767755376
|
|
NM_000535.7(PMS2):c.1073C>G (p.Ser358Cys)
|
rs762299041
|
|
NM_000535.7(PMS2):c.1075T>G (p.Leu359Val)
|
rs730881910
|
|
NM_000535.7(PMS2):c.1076dup (p.Leu359fs)
|
rs267608156
|
|
NM_000535.7(PMS2):c.1078A>T (p.Ile360Leu)
|
|
|
NM_000535.7(PMS2):c.1079T>A (p.Ile360Lys)
|
rs1554298715
|
|
NM_000535.7(PMS2):c.1079T>C (p.Ile360Thr)
|
rs1554298715
|
|
NM_000535.7(PMS2):c.1079del (p.Ile360fs)
|
|
|
NM_000535.7(PMS2):c.1081G>A (p.Gly361Arg)
|
rs1562644325
|
|
NM_000535.7(PMS2):c.1082_1094del (p.Gly361fs)
|
|
|
NM_000535.7(PMS2):c.1084A>T (p.Met362Leu)
|
rs876659797
|
|
NM_000535.7(PMS2):c.1085T>A (p.Met362Lys)
|
rs2128747721
|
|
NM_000535.7(PMS2):c.1088T>G (p.Phe363Cys)
|
rs1554298706
|
|
NM_000535.7(PMS2):c.1089T>C (p.Phe363=)
|
|
|
NM_000535.7(PMS2):c.1089T>G (p.Phe363Leu)
|
|
|
NM_000535.7(PMS2):c.1090G>A (p.Asp364Asn)
|
rs2128747657
|
|
NM_000535.7(PMS2):c.1091A>T (p.Asp364Val)
|
|
|
NM_000535.7(PMS2):c.1094G>C (p.Ser365Thr)
|
rs1554298690
|
|
NM_000535.7(PMS2):c.1094G>T (p.Ser365Ile)
|
rs1554298690
|
|
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile)
|
rs746889239
|
|
NM_000535.7(PMS2):c.109A>C (p.Thr37Pro)
|
|
|
NM_000535.7(PMS2):c.109A>G (p.Thr37Ala)
|
rs876659883
|
|
NM_000535.7(PMS2):c.10G>A (p.Ala4Thr)
|
|
|
NM_000535.7(PMS2):c.1104C>T (p.Asn368=)
|
rs1554298686
|
|
NM_000535.7(PMS2):c.1107G>A (p.Lys369=)
|
rs1554298683
|
|
NM_000535.7(PMS2):c.1108C>A (p.Leu370Ile)
|
|
|
NM_000535.7(PMS2):c.1108C>T (p.Leu370=)
|
|
|
NM_000535.7(PMS2):c.1109T>C (p.Leu370Pro)
|
rs1338014748
|
|
NM_000535.7(PMS2):c.110C>T (p.Thr37Ile)
|
|
|
NM_000535.7(PMS2):c.1110A>C (p.Leu370=)
|
|
|
NM_000535.7(PMS2):c.1110A>G (p.Leu370=)
|
rs1554298681
|
|
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs)
|
rs1583334346
|
|
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)
|
rs587779326
|
|
NM_000535.7(PMS2):c.1113T>G (p.Asn371Lys)
|
rs989130272
|
|
NM_000535.7(PMS2):c.1117A>C (p.Ser373Arg)
|
rs1060503125
|
|
NM_000535.7(PMS2):c.1117dup (p.Ser373fs)
|
rs1783516106
|
|
NM_000535.7(PMS2):c.1118G>A (p.Ser373Asn)
|
|
|
NM_000535.7(PMS2):c.1119T>A (p.Ser373Arg)
|
rs1060503147
|
|
NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter)
|
rs1437858319
|
|
NM_000535.7(PMS2):c.1121AGC[1] (p.Gln375del)
|
rs1583334101
|
|
NM_000535.7(PMS2):c.1122G>A (p.Gln374=)
|
|
|
NM_000535.7(PMS2):c.1122G>T (p.Gln374His)
|
|
|
NM_000535.7(PMS2):c.1123C>A (p.Gln375Lys)
|
|
|
NM_000535.7(PMS2):c.1123C>G (p.Gln375Glu)
|
rs956005905
|
|
NM_000535.7(PMS2):c.1123C>T (p.Gln375Ter)
|
rs956005905
|
|
NM_000535.7(PMS2):c.1125G>A (p.Gln375=)
|
rs1060504838
|
|
NM_000535.7(PMS2):c.1126C>G (p.Pro376Ala)
|
|
|
NM_000535.7(PMS2):c.1129CTG[1] (p.Leu378del)
|
rs1783510412
|
|
NM_000535.7(PMS2):c.112G>A (p.Ala38Thr)
|
|
|
NM_000535.7(PMS2):c.112G>T (p.Ala38Ser)
|
rs1554306427
|
|
NM_000535.7(PMS2):c.1130T>C (p.Leu377Pro)
|
rs1583334040
|
|
NM_000535.7(PMS2):c.1133T>C (p.Leu378Pro)
|
rs1783510761
|
|
NM_000535.7(PMS2):c.1136A>C (p.Asp379Ala)
|
rs536031711
|
|
NM_000535.7(PMS2):c.1137T>C (p.Asp379=)
|
|
|
NM_000535.7(PMS2):c.1139T>C (p.Val380Ala)
|
rs748971523
|
|
NM_000535.7(PMS2):c.113C>A (p.Ala38Glu)
|
rs148270248
|
|
NM_000535.7(PMS2):c.1144+14A>G
|
rs1201720145
|
|
NM_000535.7(PMS2):c.1144+1G>C
|
rs373885654
|
|
NM_000535.7(PMS2):c.1144+1del
|
rs2128746842
|
|
NM_000535.7(PMS2):c.1144+20C>G
|
rs750883624
|
|
NM_000535.7(PMS2):c.1144+3A>T
|
rs1430015665
|
|
NM_000535.7(PMS2):c.1144+4A>G
|
rs1554298642
|
|
NM_000535.7(PMS2):c.1144G>C (p.Gly382Arg)
|
rs779512948
|
|
NM_000535.7(PMS2):c.1145-11C>T
|
rs558565527
|
|
NM_000535.7(PMS2):c.1145-13C>T
|
|
|
NM_000535.7(PMS2):c.1145-15T>C
|
rs1783194597
|
|
NM_000535.7(PMS2):c.1145-16G>T
|
rs576825560
|
|
NM_000535.7(PMS2):c.1145-1G>A
|
|
|
NM_000535.7(PMS2):c.1145-2A>G
|
rs1325835006
|
|
NM_000535.7(PMS2):c.1145-4T>C
|
rs1583324165
|
|
NM_000535.7(PMS2):c.1145-5C>T
|
rs267608157
|
|
NM_000535.7(PMS2):c.1145-7T>G
|
rs1554298099
|
|
NM_000535.7(PMS2):c.1145-8T>G
|
rs1554298100
|
|
NM_000535.7(PMS2):c.1145G>A (p.Gly382Asp)
|
rs876661243
|
|
NM_000535.7(PMS2):c.1146T>C (p.Gly382=)
|
rs1554298091
|
|
NM_000535.7(PMS2):c.1146T>G (p.Gly382=)
|
rs1554298091
|
|
NM_000535.7(PMS2):c.1147A>G (p.Asn383Asp)
|
rs1583324090
|
|
NM_000535.7(PMS2):c.1148A>G (p.Asn383Ser)
|
rs1562637184
|
|
NM_000535.7(PMS2):c.1148del (p.Asn383fs)
|
|
|
NM_000535.7(PMS2):c.1149C>T (p.Asn383=)
|
|
|
NM_000535.7(PMS2):c.1150_1151del (p.Leu384fs)
|
rs2128737358
|
|
NM_000535.7(PMS2):c.1151T>A (p.Leu384Ter)
|
|
|
NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter)
|
rs1554298087
|
|
NM_000535.7(PMS2):c.1156A>T (p.Lys386Ter)
|
|
|
NM_000535.7(PMS2):c.1159A>C (p.Met387Leu)
|
rs876658440
|
|
NM_000535.7(PMS2):c.115G>T (p.Val39Leu)
|
rs1785697288
|
|
NM_000535.7(PMS2):c.1161G>A (p.Met387Ile)
|
|
|
NM_000535.7(PMS2):c.1164T>C (p.His388=)
|
rs768480216
|
|
NM_000535.7(PMS2):c.1164del (p.His388fs)
|
rs1554298082
|
|
NM_000535.7(PMS2):c.1165G>A (p.Ala389Thr)
|
rs1562637025
|
|
NM_000535.7(PMS2):c.1166C>T (p.Ala389Val)
|
rs1554298076
|
|
NM_000535.7(PMS2):c.1167A>C (p.Ala389=)
|
rs748920792
|
|
NM_000535.7(PMS2):c.1168G>T (p.Ala390Ser)
|
rs1583323871
|
|
NM_000535.7(PMS2):c.116del (p.Val39fs)
|
rs1064794152
|
|
NM_000535.7(PMS2):c.1171G>A (p.Asp391Asn)
|
|
|
NM_000535.7(PMS2):c.1171G>C (p.Asp391His)
|
rs1064795020
|
|
NM_000535.7(PMS2):c.1171G>T (p.Asp391Tyr)
|
rs1064795020
|
|
NM_000535.7(PMS2):c.1180A>G (p.Lys394Glu)
|
rs1583323711
|
|
NM_000535.7(PMS2):c.1181del (p.Lys394fs)
|
rs1554298067
|
|
NM_000535.7(PMS2):c.1182G>T (p.Lys394Asn)
|
rs1197824645
|
|
NM_000535.7(PMS2):c.1183C>G (p.Pro395Ala)
|
|
|
NM_000535.7(PMS2):c.1187T>C (p.Met396Thr)
|
rs786202704
|
|
NM_000535.7(PMS2):c.1187T>G (p.Met396Arg)
|
rs786202704
|
|
NM_000535.7(PMS2):c.1191A>G (p.Val397=)
|
rs864622595
|
|
NM_000535.7(PMS2):c.1192G>T (p.Glu398Ter)
|
|
|
NM_000535.7(PMS2):c.1196del (p.Lys399fs)
|
|
|
NM_000535.7(PMS2):c.1196dup (p.Gln400fs)
|
rs1554298056
|
|
NM_000535.7(PMS2):c.1197G>T (p.Lys399Asn)
|
rs757730609
|
|
NM_000535.7(PMS2):c.1198C>T (p.Gln400Ter)
|
rs876658862
|
|
NM_000535.7(PMS2):c.1199A>G (p.Gln400Arg)
|
rs148069478
|
|
NM_000535.7(PMS2):c.119_122dup (p.Leu42fs)
|
rs1554306391
|
|
NM_000535.7(PMS2):c.11C>A (p.Ala4Asp)
|
rs745361721
|
|
NM_000535.7(PMS2):c.11C>T (p.Ala4Val)
|
rs745361721
|
|
NM_000535.7(PMS2):c.11_12insCCCGCTCACC (p.Glu5fs)
|
rs2128866103
|
|
NM_000535.7(PMS2):c.1200G>A (p.Gln400=)
|
|
|
NM_000535.7(PMS2):c.1201G>A (p.Asp401Asn)
|
rs1284362486
|
|
NM_000535.7(PMS2):c.1201del (p.Asp401fs)
|
|
|
NM_000535.7(PMS2):c.1203T>A (p.Asp401Glu)
|
rs1057522327
|
|
NM_000535.7(PMS2):c.1203T>C (p.Asp401=)
|
rs1057522327
|
|
NM_000535.7(PMS2):c.1204C>A (p.Gln402Lys)
|
rs587782789
|
|
NM_000535.7(PMS2):c.1204C>G (p.Gln402Glu)
|
rs587782789
|
|
NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)
|
|
|
NM_000535.7(PMS2):c.1205A>G (p.Gln402Arg)
|
rs1583323301
|
|
NM_000535.7(PMS2):c.1206A>G (p.Gln402=)
|
|
|
NM_000535.7(PMS2):c.1206del (p.Gln402fs)
|
rs1562636427
|
|
NM_000535.7(PMS2):c.1208C>A (p.Ser403Tyr)
|
rs1004189664
|
|
NM_000535.7(PMS2):c.1208C>T (p.Ser403Phe)
|
rs1004189664
|
|
NM_000535.7(PMS2):c.1209C>G (p.Ser403=)
|
rs147399413
|
|
NM_000535.7(PMS2):c.1209C>T (p.Ser403=)
|
rs147399413
|
|
NM_000535.7(PMS2):c.1210C>T (p.Pro404Ser)
|
|
|
NM_000535.7(PMS2):c.1211C>T (p.Pro404Leu)
|
rs536111818
|
|
NM_000535.7(PMS2):c.1212T>G (p.Pro404=)
|
|
|
NM_000535.7(PMS2):c.1213T>C (p.Ser405Pro)
|
|
|
NM_000535.7(PMS2):c.1214C>T (p.Ser405Leu)
|
rs1554298036
|
|
NM_000535.7(PMS2):c.1215A>G (p.Ser405=)
|
|
|
NM_000535.7(PMS2):c.1217T>G (p.Leu406Ter)
|
|
|
NM_000535.7(PMS2):c.1217dup (p.Leu406fs)
|
|
|
NM_000535.7(PMS2):c.1219A>G (p.Arg407Gly)
|
rs776725795
|
|
NM_000535.7(PMS2):c.121G>A (p.Glu41Lys)
|
|
|
NM_000535.7(PMS2):c.1220G>T (p.Arg407Met)
|
|
|
NM_000535.7(PMS2):c.1221G>T (p.Arg407Ser)
|
rs1305178511
|
|
NM_000535.7(PMS2):c.1221del (p.Thr408fs)
|
rs587776715
|
|
NM_000535.7(PMS2):c.1224T>C (p.Thr408=)
|
rs1554298007
|
|
NM_000535.7(PMS2):c.1226G>A (p.Gly409Glu)
|
rs1554298002
|
|
NM_000535.7(PMS2):c.1226G>T (p.Gly409Val)
|
rs1554298002
|
|
NM_000535.7(PMS2):c.1227A>G (p.Gly409=)
|
|
|
NM_000535.7(PMS2):c.1228G>A (p.Glu410Lys)
|
rs1358586679
|
|
NM_000535.7(PMS2):c.1228G>C (p.Glu410Gln)
|
rs1358586679
|
|
NM_000535.7(PMS2):c.1229A>G (p.Glu410Gly)
|
|
|
NM_000535.7(PMS2):c.1230A>G (p.Glu410=)
|
|
|
NM_000535.7(PMS2):c.1231G>T (p.Glu411Ter)
|
|
|
NM_000535.7(PMS2):c.1231_1232delinsTT (p.Glu411Leu)
|
rs786202871
|
|
NM_000535.7(PMS2):c.1232A>C (p.Glu411Ala)
|
rs587782832
|
|
NM_000535.7(PMS2):c.1232A>G (p.Glu411Gly)
|
rs587782832
|
|
NM_000535.7(PMS2):c.1232A>T (p.Glu411Val)
|
|
|
NM_000535.7(PMS2):c.1233A>C (p.Glu411Asp)
|
rs587780040
|
|
NM_000535.7(PMS2):c.1233A>G (p.Glu411=)
|
rs587780040
|
|
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu)
|
rs587778616
|
|
NM_000535.7(PMS2):c.1237_1239dup (p.Lys413_Asp414insLys)
|
|
|
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg)
|
rs587780041
|
|
NM_000535.7(PMS2):c.1238_1239dup (p.Asp414fs)
|
|
|
NM_000535.7(PMS2):c.1239del (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.1239dup (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.123G>C (p.Glu41Asp)
|
|
|
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)
|
rs863224676
|
|
NM_000535.7(PMS2):c.1240G>A (p.Asp414Asn)
|
rs370752614
|
|
NM_000535.7(PMS2):c.1240G>C (p.Asp414His)
|
rs370752614
|
|
NM_000535.7(PMS2):c.1243G>C (p.Val415Leu)
|
rs138387687
|
|
NM_000535.7(PMS2):c.1243G>T (p.Val415Leu)
|
rs138387687
|
|
NM_000535.7(PMS2):c.1245G>A (p.Val415=)
|
rs370701800
|
|
NM_000535.7(PMS2):c.1245G>C (p.Val415=)
|
rs370701800
|
|
NM_000535.7(PMS2):c.1245_1246del (p.Ser416fs)
|
|
|
NM_000535.7(PMS2):c.1247C>G (p.Ser416Cys)
|
rs1554297981
|
|
NM_000535.7(PMS2):c.1247C>T (p.Ser416Phe)
|
rs1554297981
|
|
NM_000535.7(PMS2):c.1249A>C (p.Ile417Leu)
|
rs1060503132
|
|
NM_000535.7(PMS2):c.1249A>G (p.Ile417Val)
|
rs1060503132
|
|
NM_000535.7(PMS2):c.124T>G (p.Leu42Val)
|
|
|
NM_000535.7(PMS2):c.1251T>G (p.Ile417Met)
|
rs1057521136
|
|
NM_000535.7(PMS2):c.1254C>G (p.Ser418=)
|
rs2128735114
|
|
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
|
|
|
NM_000535.7(PMS2):c.1255A>G (p.Arg419Gly)
|
rs1554297975
|
|
NM_000535.7(PMS2):c.1256G>C (p.Arg419Thr)
|
rs1783156550
|
|
NM_000535.7(PMS2):c.1258C>G (p.Leu420Val)
|
rs1783155735
|
|
NM_000535.7(PMS2):c.1259T>C (p.Leu420Pro)
|
rs747495075
|
|
NM_000535.7(PMS2):c.1259T>G (p.Leu420Arg)
|
rs747495075
|
|
NM_000535.7(PMS2):c.125T>C (p.Leu42Ser)
|
|
|
NM_000535.7(PMS2):c.125T>G (p.Leu42Ter)
|
|
|
NM_000535.7(PMS2):c.125TAG[1] (p.Val43del)
|
rs1064794820
|
|
NM_000535.7(PMS2):c.1260G>A (p.Leu420=)
|
rs1554297974
|
|
NM_000535.7(PMS2):c.1262G>T (p.Arg421Leu)
|
rs778482303
|
|
NM_000535.7(PMS2):c.1265A>G (p.Glu422Gly)
|
rs1562635355
|
|
NM_000535.7(PMS2):c.1266G>T (p.Glu422Asp)
|
|
|
NM_000535.7(PMS2):c.1268C>A (p.Ala423Asp)
|
rs756883400
|
|
NM_000535.7(PMS2):c.1268C>T (p.Ala423Val)
|
rs756883400
|
|
NM_000535.7(PMS2):c.1269C>G (p.Ala423=)
|
rs921253631
|
|
NM_000535.7(PMS2):c.1269C>T (p.Ala423=)
|
rs921253631
|
|
NM_000535.7(PMS2):c.1270T>A (p.Phe424Ile)
|
|
|
NM_000535.7(PMS2):c.1270T>C (p.Phe424Leu)
|
rs1562635229
|
|
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser)
|
rs876661186
|
|
NM_000535.7(PMS2):c.1275_1279del (p.Leu426fs)
|
rs1554297962
|
|
NM_000535.7(PMS2):c.127G>A (p.Val43Ile)
|
rs587780042
|
|
NM_000535.7(PMS2):c.1281del (p.His428fs)
|
rs1783147885
|
|
NM_000535.7(PMS2):c.1283A>G (p.His428Arg)
|
rs1583322096
|
|
NM_000535.7(PMS2):c.1284C>T (p.His428=)
|
rs1583322072
|
|
NM_000535.7(PMS2):c.1285A>G (p.Thr429Ala)
|
rs1450566410
|
|
NM_000535.7(PMS2):c.1286C>G (p.Thr429Arg)
|
rs1554297938
|
|
NM_000535.7(PMS2):c.1287A>G (p.Thr429=)
|
|
|
NM_000535.7(PMS2):c.1288A>T (p.Thr430Ser)
|
rs587781382
|
|
NM_000535.7(PMS2):c.1289C>G (p.Thr430Arg)
|
rs1583322001
|
|
NM_000535.7(PMS2):c.128T>G (p.Val43Gly)
|
|
|
NM_000535.7(PMS2):c.1290A>C (p.Thr430=)
|
|
|
NM_000535.7(PMS2):c.1293G>A (p.Glu431=)
|
rs2128734164
|
|
NM_000535.7(PMS2):c.1293G>C (p.Glu431Asp)
|
|
|
NM_000535.7(PMS2):c.1295A>G (p.Asn432Ser)
|
rs1583321984
|
|
NM_000535.7(PMS2):c.1296C>G (p.Asn432Lys)
|
rs1562635023
|
|
NM_000535.7(PMS2):c.1296C>T (p.Asn432=)
|
|
|
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter)
|
rs863224496
|
|
NM_000535.7(PMS2):c.1298A>C (p.Lys433Thr)
|
rs1064796375
|
|
NM_000535.7(PMS2):c.129A>G (p.Val43=)
|
|
|
NM_000535.7(PMS2):c.129del (p.Glu44fs)
|
rs1060503148
|
|
NM_000535.7(PMS2):c.12T>A (p.Ala4=)
|
|
|
NM_000535.7(PMS2):c.12T>C (p.Ala4=)
|
|
|
NM_000535.7(PMS2):c.12_13insC (p.Glu5fs)
|
rs2128866045
|
|
NM_000535.7(PMS2):c.1300C>A (p.Pro434Thr)
|
|
|
NM_000535.7(PMS2):c.1301C>A (p.Pro434His)
|
|
|
NM_000535.7(PMS2):c.1301C>G (p.Pro434Arg)
|
rs1554297919
|
|
NM_000535.7(PMS2):c.1303C>T (p.His435Tyr)
|
rs148956636
|
|
NM_000535.7(PMS2):c.1304A>G (p.His435Arg)
|
|
|
NM_000535.7(PMS2):c.1305C>G (p.His435Gln)
|
|
|
NM_000535.7(PMS2):c.1306A>G (p.Ser436Gly)
|
rs1583321782
|
|
NM_000535.7(PMS2):c.1307G>A (p.Ser436Asn)
|
rs876658441
|
|
NM_000535.7(PMS2):c.1307G>T (p.Ser436Ile)
|
|
|
NM_000535.7(PMS2):c.1311A>C (p.Pro437=)
|
|
|
NM_000535.7(PMS2):c.1311A>G (p.Pro437=)
|
rs1554297898
|
|
NM_000535.7(PMS2):c.1312A>G (p.Lys438Glu)
|
rs878854033
|
|
NM_000535.7(PMS2):c.1314G>A (p.Lys438=)
|
|
|
NM_000535.7(PMS2):c.1314G>T (p.Lys438Asn)
|
|
|
NM_000535.7(PMS2):c.1317T>C (p.Thr439=)
|
|
|
NM_000535.7(PMS2):c.1317T>G (p.Thr439=)
|
|
|
NM_000535.7(PMS2):c.1318C>A (p.Pro440Thr)
|
rs762894051
|
|
NM_000535.7(PMS2):c.131A>G (p.Glu44Gly)
|
rs876659955
|
|
NM_000535.7(PMS2):c.131A>T (p.Glu44Val)
|
rs876659955
|
|
NM_000535.7(PMS2):c.1321G>A (p.Glu441Lys)
|
|
|
NM_000535.7(PMS2):c.1321G>T (p.Glu441Ter)
|
|
|
NM_000535.7(PMS2):c.1324C>T (p.Pro442Ser)
|
rs1783134322
|
|
NM_000535.7(PMS2):c.1325C>A (p.Pro442Gln)
|
rs1783133970
|
|
NM_000535.7(PMS2):c.1326A>G (p.Pro442=)
|
rs878854034
|
|
NM_000535.7(PMS2):c.1327A>C (p.Arg443=)
|
rs1222691058
|
|
NM_000535.7(PMS2):c.1327A>G (p.Arg443Gly)
|
rs1222691058
|
|
NM_000535.7(PMS2):c.1328G>A (p.Arg443Lys)
|
|
|
NM_000535.7(PMS2):c.1329A>G (p.Arg443=)
|
rs192720342
|
|
NM_000535.7(PMS2):c.1329A>T (p.Arg443Ser)
|
rs192720342
|
|
NM_000535.7(PMS2):c.132A>C (p.Glu44Asp)
|
|
|
NM_000535.7(PMS2):c.1331G>T (p.Arg444Met)
|
rs1241272236
|
|
NM_000535.7(PMS2):c.1332G>A (p.Arg444=)
|
rs1554297874
|
|
NM_000535.7(PMS2):c.1332G>C (p.Arg444Ser)
|
rs1554297874
|
|
NM_000535.7(PMS2):c.1332del (p.Ser445fs)
|
rs1554297877
|
|
NM_000535.7(PMS2):c.1334G>A (p.Ser445Asn)
|
rs1554297872
|
|
NM_000535.7(PMS2):c.1334_1344del (p.Ser445fs)
|
|
|
NM_000535.7(PMS2):c.1335C>T (p.Ser445=)
|
rs1562634446
|
|
NM_000535.7(PMS2):c.1336C>T (p.Pro446Ser)
|
rs2128733048
|
|
NM_000535.7(PMS2):c.1337C>A (p.Pro446His)
|
|
|
NM_000535.7(PMS2):c.1338T>C (p.Pro446=)
|
rs786203033
|
|
NM_000535.7(PMS2):c.1341A>G (p.Leu447=)
|
rs1583321424
|
|
NM_000535.7(PMS2):c.1342G>A (p.Gly448Arg)
|
rs786203757
|
|
NM_000535.7(PMS2):c.1342G>C (p.Gly448Arg)
|
rs786203757
|
|
NM_000535.7(PMS2):c.1344A>G (p.Gly448=)
|
rs759192470
|
|
NM_000535.7(PMS2):c.1345C>T (p.Gln449Ter)
|
rs876661256
|
|
NM_000535.7(PMS2):c.1347G>T (p.Gln449His)
|
|
|
NM_000535.7(PMS2):c.1348A>G (p.Lys450Glu)
|
rs1060503142
|
|
NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter)
|
rs1060503142
|
|
NM_000535.7(PMS2):c.1349A>G (p.Lys450Arg)
|
rs1783126726
|
|
NM_000535.7(PMS2):c.134A>G (p.Asn45Ser)
|
rs1554306353
|
|
NM_000535.7(PMS2):c.1354G>A (p.Gly452Ser)
|
rs569947936
|
|
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg)
|
rs569947936
|
|
NM_000535.7(PMS2):c.1355G>A (p.Gly452Asp)
|
|
|
NM_000535.7(PMS2):c.1355G>T (p.Gly452Val)
|
rs1490598044
|
|
NM_000535.7(PMS2):c.1356T>G (p.Gly452=)
|
rs786202946
|
|
NM_000535.7(PMS2):c.1356dup (p.Met453fs)
|
rs1583321194
|
|
NM_000535.7(PMS2):c.1357A>T (p.Met453Leu)
|
|
|
NM_000535.7(PMS2):c.1358T>C (p.Met453Thr)
|
rs1060503130
|
|
NM_000535.7(PMS2):c.1358T>G (p.Met453Arg)
|
rs1060503130
|
|
NM_000535.7(PMS2):c.1359G>T (p.Met453Ile)
|
rs886062401
|
|
NM_000535.7(PMS2):c.135C>G (p.Asn45Lys)
|
rs1408915250
|
|
NM_000535.7(PMS2):c.135C>T (p.Asn45=)
|
|
|
NM_000535.7(PMS2):c.135_136del (p.Asn45fs)
|
rs1583418616
|
|
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser)
|
rs587778615
|
|
NM_000535.7(PMS2):c.1361T>G (p.Leu454Arg)
|
|
|
NM_000535.7(PMS2):c.1362G>A (p.Leu454=)
|
|
|
NM_000535.7(PMS2):c.1362G>C (p.Leu454=)
|
rs1583321045
|
|
NM_000535.7(PMS2):c.1367C>A (p.Ser456Tyr)
|
|
|
NM_000535.7(PMS2):c.1370G>C (p.Ser457Thr)
|
|
|
NM_000535.7(PMS2):c.1372A>G (p.Thr458Ala)
|
rs779306532
|
|
NM_000535.7(PMS2):c.1373C>A (p.Thr458Asn)
|
rs755348833
|
|
NM_000535.7(PMS2):c.1373C>G (p.Thr458Ser)
|
rs755348833
|
|
NM_000535.7(PMS2):c.1374T>C (p.Thr458=)
|
|
|
NM_000535.7(PMS2):c.1375T>G (p.Ser459Ala)
|
|
|
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)
|
rs587780724
|
|
NM_000535.7(PMS2):c.1376C>T (p.Ser459Leu)
|
rs587780724
|
|
NM_000535.7(PMS2):c.1376_1405del (p.Ser459_Arg469delinsTer)
|
|
|
NM_000535.7(PMS2):c.1377A>G (p.Ser459=)
|
|
|
NM_000535.7(PMS2):c.1379G>T (p.Gly460Val)
|
rs150201462
|
|
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn)
|
rs121434629
|
|
NM_000535.7(PMS2):c.1382C>A (p.Ala461Asp)
|
|
|
NM_000535.7(PMS2):c.1382C>T (p.Ala461Val)
|
rs1060503133
|
|
NM_000535.7(PMS2):c.1383C>T (p.Ala461=)
|
rs756335943
|
|
NM_000535.7(PMS2):c.1385T>C (p.Ile462Thr)
|
rs1562633639
|
|
NM_000535.7(PMS2):c.1386C>G (p.Ile462Met)
|
rs750448069
|
|
NM_000535.7(PMS2):c.1387T>G (p.Ser463Ala)
|
|
|
NM_000535.7(PMS2):c.1388C>G (p.Ser463Cys)
|
|
|
NM_000535.7(PMS2):c.138T>C (p.Ser46=)
|
|
|
NM_000535.7(PMS2):c.138T>G (p.Ser46Arg)
|
|
|
NM_000535.7(PMS2):c.1391A>G (p.Asp464Gly)
|
|
|
NM_000535.7(PMS2):c.1392C>T (p.Asp464=)
|
|
|
NM_000535.7(PMS2):c.1394A>C (p.Lys465Thr)
|
rs141084758
|
|
NM_000535.7(PMS2):c.1395A>C (p.Lys465Asn)
|
rs1208428952
|
|
NM_000535.7(PMS2):c.1397G>A (p.Gly466Asp)
|
rs1339878885
|
|
NM_000535.7(PMS2):c.1397G>T (p.Gly466Val)
|
rs1339878885
|
|
NM_000535.7(PMS2):c.1398C>G (p.Gly466=)
|
rs752666485
|
|
NM_000535.7(PMS2):c.1399G>C (p.Val467Leu)
|
rs373611083
|
|
NM_000535.7(PMS2):c.139_146del (p.Leu47fs)
|
rs886039615
|
|
NM_000535.7(PMS2):c.1402C>T (p.Leu468=)
|
rs759306219
|
|
NM_000535.7(PMS2):c.1403T>C (p.Leu468Pro)
|
|
|
NM_000535.7(PMS2):c.1404G>C (p.Leu468=)
|
|
|
NM_000535.7(PMS2):c.1406G>A (p.Arg469Lys)
|
rs1783102663
|
|
NM_000535.7(PMS2):c.1406_1408delinsAAT (p.Arg469_Pro470delinsLysSer)
|
|
|
NM_000535.7(PMS2):c.1408_1409delinsTT (p.Pro470Phe)
|
rs1583320391
|
|
NM_000535.7(PMS2):c.1408delinsGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGAT (p.Pro470delinsValPheTer)
|
rs1554297781
|
|
NM_000535.7(PMS2):c.1410T>A (p.Pro470=)
|
rs2128731303
|
|
NM_000535.7(PMS2):c.1413G>T (p.Gln471His)
|
|
|
NM_000535.7(PMS2):c.1414A>T (p.Lys472Ter)
|
rs1562633172
|
|
NM_000535.7(PMS2):c.1418_1419del (p.Glu473fs)
|
rs1783098862
|
|
NM_000535.7(PMS2):c.1419G>T (p.Glu473Asp)
|
|
|
NM_000535.7(PMS2):c.1420G>A (p.Ala474Thr)
|
rs373114291
|
|
NM_000535.7(PMS2):c.1422A>C (p.Ala474=)
|
rs1057522125
|
|
NM_000535.7(PMS2):c.1423G>A (p.Val475Met)
|
rs864622579
|
|
NM_000535.7(PMS2):c.1424T>A (p.Val475Glu)
|
rs587781827
|
|
NM_000535.7(PMS2):c.1424T>C (p.Val475Ala)
|
|
|
NM_000535.7(PMS2):c.1425G>C (p.Val475=)
|
|
|
NM_000535.7(PMS2):c.1425_1428del (p.Ser476fs)
|
rs1554297764
|
|
NM_000535.7(PMS2):c.1426A>G (p.Ser476Gly)
|
rs1583320225
|
|
NM_000535.7(PMS2):c.1428T>C (p.Ser476=)
|
rs1562632936
|
|
NM_000535.7(PMS2):c.1429T>A (p.Ser477Thr)
|
rs1554297760
|
|
NM_000535.7(PMS2):c.142G>A (p.Asp48Asn)
|
rs755665894
|
|
NM_000535.7(PMS2):c.1430C>A (p.Ser477Tyr)
|
rs876661291
|
|
NM_000535.7(PMS2):c.1430C>T (p.Ser477Phe)
|
|
|
NM_000535.7(PMS2):c.1435C>T (p.His479Tyr)
|
rs376344586
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
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.1439G>C (p.Gly480Ala)
|
rs373917897
|
|
NM_000535.7(PMS2):c.143A>T (p.Asp48Val)
|
|
|
NM_000535.7(PMS2):c.1442C>G (p.Pro481Arg)
|
|
|
NM_000535.7(PMS2):c.1443C>G (p.Pro481=)
|
|
|
NM_000535.7(PMS2):c.1443C>T (p.Pro481=)
|
|
|
NM_000535.7(PMS2):c.1445G>C (p.Ser482Thr)
|
rs2128730498
|
|
NM_000535.7(PMS2):c.1447G>A (p.Asp483Asn)
|
rs1583319965
|
|
NM_000535.7(PMS2):c.1448A>G (p.Asp483Gly)
|
|
|
NM_000535.7(PMS2):c.1448A>T (p.Asp483Val)
|
|
|
NM_000535.7(PMS2):c.1449C>T (p.Asp483=)
|
rs1583319929
|
|
NM_000535.7(PMS2):c.1450C>T (p.Pro484Ser)
|
rs752122569
|
|
NM_000535.7(PMS2):c.1451C>A (p.Pro484His)
|
|
|
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met)
|
rs1805323
|
|
NM_000535.7(PMS2):c.1455G>C (p.Thr485=)
|
|
|
NM_000535.7(PMS2):c.1456G>C (p.Asp486His)
|
rs2128730228
|
|
NM_000535.7(PMS2):c.1457A>G (p.Asp486Gly)
|
rs899935666
|
|
NM_000535.7(PMS2):c.1458C>T (p.Asp486=)
|
rs1554297734
|
|
NM_000535.7(PMS2):c.145G>A (p.Ala49Thr)
|
rs1583418527
|
|
NM_000535.7(PMS2):c.1460G>C (p.Arg487Thr)
|
rs1783084707
|
|
NM_000535.7(PMS2):c.1462G>A (p.Ala488Thr)
|
rs1783084396
|
|
NM_000535.7(PMS2):c.1462G>T (p.Ala488Ser)
|
|
|
NM_000535.7(PMS2):c.1463C>G (p.Ala488Gly)
|
|
|
NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys)
|
rs876660060
|
|
NM_000535.7(PMS2):c.146C>G (p.Ala49Gly)
|
rs786203255
|
|
NM_000535.7(PMS2):c.146C>T (p.Ala49Val)
|
rs786203255
|
|
NM_000535.7(PMS2):c.1471G>A (p.Glu491Lys)
|
rs1064794577
|
|
NM_000535.7(PMS2):c.1471_1473del (p.Glu491del)
|
rs764854869
|
|
NM_000535.7(PMS2):c.1472_1485del (p.Glu491fs)
|
rs1562632035
|
|
NM_000535.7(PMS2):c.1473G>A (p.Glu491=)
|
|
|
NM_000535.7(PMS2):c.1475A>G (p.Lys492Arg)
|
rs1583319590
|
|
NM_000535.7(PMS2):c.1476G>A (p.Lys492=)
|
rs766309532
|
|
NM_000535.7(PMS2):c.1477G>C (p.Asp493His)
|
rs148642064
|
|
NM_000535.7(PMS2):c.1478A>G (p.Asp493Gly)
|
|
|
NM_000535.7(PMS2):c.1479C>G (p.Asp493Glu)
|
rs773048076
|
|
NM_000535.7(PMS2):c.147T>C (p.Ala49=)
|
|
|
NM_000535.7(PMS2):c.147T>G (p.Ala49=)
|
|
|
NM_000535.7(PMS2):c.1480T>C (p.Ser494Pro)
|
rs587782500
|
|
NM_000535.7(PMS2):c.1482G>A (p.Ser494=)
|
rs864622398
|
|
NM_000535.7(PMS2):c.1482G>C (p.Ser494=)
|
|
|
NM_000535.7(PMS2):c.1482G>T (p.Ser494=)
|
rs864622398
|
|
NM_000535.7(PMS2):c.1483G>C (p.Gly495Arg)
|
rs1554297701
|
|
NM_000535.7(PMS2):c.1484G>C (p.Gly495Ala)
|
rs1064793846
|
|
NM_000535.7(PMS2):c.1485G>T (p.Gly495=)
|
rs143865305
|
|
NM_000535.7(PMS2):c.1486C>T (p.His496Tyr)
|
|
|
NM_000535.7(PMS2):c.1488C>A (p.His496Gln)
|
|
|
NM_000535.7(PMS2):c.1488C>G (p.His496Gln)
|
|
|
NM_000535.7(PMS2):c.1488_1489insTGCC (p.Gly497fs)
|
|
|
NM_000535.7(PMS2):c.1489G>C (p.Gly497Arg)
|
rs749826312
|
|
NM_000535.7(PMS2):c.1491C>G (p.Gly497=)
|
rs1783073609
|
|
NM_000535.7(PMS2):c.1492A>C (p.Ser498Arg)
|
|
|
NM_000535.7(PMS2):c.1492_1502del (p.Ser498fs)
|
rs876660459
|
|
NM_000535.7(PMS2):c.1493G>C (p.Ser498Thr)
|
|
|
NM_000535.7(PMS2):c.1495A>G (p.Thr499Ala)
|
rs1060503117
|
|
NM_000535.7(PMS2):c.1496C>T (p.Thr499Ile)
|
rs746064480
|
|
NM_000535.7(PMS2):c.1499C>A (p.Ser500Tyr)
|
|
|
NM_000535.7(PMS2):c.149G>C (p.Gly50Ala)
|
|
|
NM_000535.7(PMS2):c.14A>G (p.Glu5Gly)
|
rs876659080
|
|
NM_000535.7(PMS2):c.1500C>G (p.Ser500=)
|
rs116094787
|
|
NM_000535.7(PMS2):c.1500del (p.Val501fs)
|
rs759151952
|
|
NM_000535.7(PMS2):c.1500dup (p.Val501fs)
|
rs759151952
|
|
NM_000535.7(PMS2):c.1501G>T (p.Val501Leu)
|
|
|
NM_000535.7(PMS2):c.1503G>A (p.Val501=)
|
|
|
NM_000535.7(PMS2):c.1505A>G (p.Asp502Gly)
|
|
|
NM_000535.7(PMS2):c.1507T>G (p.Ser503Ala)
|
rs864622497
|
|
NM_000535.7(PMS2):c.1509T>G (p.Ser503=)
|
|
|
NM_000535.7(PMS2):c.150T>C (p.Gly50=)
|
|
|
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly)
|
rs1254121331
|
|
NM_000535.7(PMS2):c.1513G>T (p.Gly505Trp)
|
rs1554297662
|
|
NM_000535.7(PMS2):c.1515del (p.Phe506fs)
|
rs1583319050
|
|
NM_000535.7(PMS2):c.1517T>G (p.Phe506Cys)
|
|
|
NM_000535.7(PMS2):c.1518C>T (p.Phe506=)
|
rs1554297654
|
|
NM_000535.7(PMS2):c.151G>A (p.Ala51Thr)
|
|
|
NM_000535.7(PMS2):c.1521C>T (p.Ser507=)
|
|
|
NM_000535.7(PMS2):c.1524C>T (p.Ile508=)
|
|
|
NM_000535.7(PMS2):c.1525C>T (p.Pro509Ser)
|
|
|
NM_000535.7(PMS2):c.152C>T (p.Ala51Val)
|
rs1583418405
|
|
NM_000535.7(PMS2):c.1531A>T (p.Thr511Ser)
|
rs2228007
|
|
NM_000535.7(PMS2):c.1531_1532inv (p.Thr511Val)
|
|
|
NM_000535.7(PMS2):c.1533G>T (p.Thr511=)
|
rs542520309
|
|
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser)
|
rs1060503127
|
|
NM_000535.7(PMS2):c.1534G>T (p.Gly512Cys)
|
rs1060503127
|
|
NM_000535.7(PMS2):c.1534_1547del (p.Gly512fs)
|
|
|
NM_000535.7(PMS2):c.1535G>A (p.Gly512Asp)
|
rs1450081432
|
|
NM_000535.7(PMS2):c.1536C>A (p.Gly512=)
|
rs1057523150
|
|
NM_000535.7(PMS2):c.153C>A (p.Ala51=)
|
|
|
NM_000535.7(PMS2):c.153C>T (p.Ala51=)
|
rs2128843882
|
|
NM_000535.7(PMS2):c.1540C>A (p.His514Asn)
|
rs878854036
|
|
NM_000535.7(PMS2):c.1540C>T (p.His514Tyr)
|
rs878854036
|
|
NM_000535.7(PMS2):c.1540_1542dup (p.His514_Cys515insHis)
|
|
|
NM_000535.7(PMS2):c.1544G>A (p.Cys515Tyr)
|
|
|
NM_000535.7(PMS2):c.1545C>T (p.Cys515=)
|
rs1057520347
|
|
NM_000535.7(PMS2):c.1546A>G (p.Ser516Gly)
|
rs1554297592
|
|
NM_000535.7(PMS2):c.1546_1551del (p.Ser516_Ser517del)
|
rs970418297
|
|
NM_000535.7(PMS2):c.1548C>T (p.Ser516=)
|
|
|
NM_000535.7(PMS2):c.1549A>C (p.Ser517Arg)
|
|
|
NM_000535.7(PMS2):c.1549A>T (p.Ser517Cys)
|
rs786202274
|
|
NM_000535.7(PMS2):c.1550G>A (p.Ser517Asn)
|
rs1562630934
|
|
NM_000535.7(PMS2):c.1551C>T (p.Ser517=)
|
rs587782479
|
|
NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)
|
|
|
NM_000535.7(PMS2):c.1553del (p.Glu518fs)
|
rs1583318494
|
|
NM_000535.7(PMS2):c.1554G>C (p.Glu518Asp)
|
rs1562630820
|
|
NM_000535.7(PMS2):c.1554G>T (p.Glu518Asp)
|
|
|
NM_000535.7(PMS2):c.1557T>G (p.Tyr519Ter)
|
rs6972869
|
|
NM_000535.7(PMS2):c.155C>G (p.Thr52Ser)
|
rs1583418387
|
|
NM_000535.7(PMS2):c.1560G>C (p.Ala520=)
|
rs201167814
|
|
NM_000535.7(PMS2):c.1561G>A (p.Ala521Thr)
|
rs1164227556
|
|
NM_000535.7(PMS2):c.1561G>T (p.Ala521Ser)
|
|
|
NM_000535.7(PMS2):c.1562C>G (p.Ala521Gly)
|
|
|
NM_000535.7(PMS2):c.1564A>C (p.Ser522Arg)
|
rs1554297553
|
|
NM_000535.7(PMS2):c.1565G>C (p.Ser522Thr)
|
rs1783049434
|
|
NM_000535.7(PMS2):c.1565G>T (p.Ser522Ile)
|
|
|
NM_000535.7(PMS2):c.1566C>T (p.Ser522=)
|
|
|
NM_000535.7(PMS2):c.1568C>T (p.Ser523Phe)
|
rs1583318261
|
|
NM_000535.7(PMS2):c.1569C>T (p.Ser523=)
|
rs141458772
|
|
NM_000535.7(PMS2):c.156T>A (p.Thr52=)
|
|
|
NM_000535.7(PMS2):c.1570C>T (p.Pro524Ser)
|
rs756127972
|
|
NM_000535.7(PMS2):c.1571C>T (p.Pro524Leu)
|
rs63751257
|
|
NM_000535.7(PMS2):c.1571del (p.Pro524fs)
|
|
|
NM_000535.7(PMS2):c.1571dup (p.Gly525fs)
|
rs1554297534
|
|
NM_000535.7(PMS2):c.1572A>G (p.Pro524=)
|
rs1488622375
|
|
NM_000535.7(PMS2):c.1573G>A (p.Gly525Arg)
|
rs1265449448
|
|
NM_000535.7(PMS2):c.1574G>A (p.Gly525Glu)
|
|
|
NM_000535.7(PMS2):c.1575G>A (p.Gly525=)
|
rs1783045939
|
|
NM_000535.7(PMS2):c.1575G>T (p.Gly525=)
|
rs1783045939
|
|
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn)
|
rs63750686
|
|
NM_000535.7(PMS2):c.1576G>C (p.Asp526His)
|
rs63750686
|
|
NM_000535.7(PMS2):c.1576del (p.Asp526fs)
|
rs863224497
|
|
NM_000535.7(PMS2):c.1578C>G (p.Asp526Glu)
|
rs63750236
|
|
NM_000535.7(PMS2):c.1578C>T (p.Asp526=)
|
rs63750236
|
|
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs)
|
rs1064793234
|
|
NM_000535.7(PMS2):c.157A>G (p.Asn53Asp)
|
rs1554306309
|
|
NM_000535.7(PMS2):c.1580G>A (p.Arg527Lys)
|
rs1783042729
|
|
NM_000535.7(PMS2):c.1580G>T (p.Arg527Met)
|
|
|
NM_000535.7(PMS2):c.1582G>C (p.Gly528Arg)
|
|
|
NM_000535.7(PMS2):c.1583G>C (p.Gly528Ala)
|
rs1554297518
|
|
NM_000535.7(PMS2):c.1583G>T (p.Gly528Val)
|
|
|
NM_000535.7(PMS2):c.1583_1600dup (p.Gly528_Val533dup)
|
rs1583317804
|
|
NM_000535.7(PMS2):c.1583del (p.Gly528fs)
|
rs1783042060
|
|
NM_000535.7(PMS2):c.1584C>T (p.Gly528=)
|
rs1554297515
|
|
NM_000535.7(PMS2):c.1585T>C (p.Ser529Pro)
|
rs1783041110
|
|
NM_000535.7(PMS2):c.1587G>C (p.Ser529=)
|
|
|
NM_000535.7(PMS2):c.1587G>T (p.Ser529=)
|
rs786201709
|
|
NM_000535.7(PMS2):c.1588C>A (p.Gln530Lys)
|
rs751261543
|
|
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
|
|
|
NM_000535.7(PMS2):c.1589A>G (p.Gln530Arg)
|
rs1783039464
|
|
NM_000535.7(PMS2):c.158A>G (p.Asn53Ser)
|
rs1272484713
|
|
NM_000535.7(PMS2):c.1593A>G (p.Glu531=)
|
|
|
NM_000535.7(PMS2):c.1593_1610del (p.His532_Glu537del)
|
|
|
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup)
|
rs587780043
|
|
NM_000535.7(PMS2):c.1594C>T (p.His532Tyr)
|
rs1783037687
|
|
NM_000535.7(PMS2):c.1595A>G (p.His532Arg)
|
rs1554297505
|
|
NM_000535.7(PMS2):c.1596T>A (p.His532Gln)
|
|
|
NM_000535.7(PMS2):c.1596T>C (p.His532=)
|
|
|
NM_000535.7(PMS2):c.1597G>A (p.Val533Met)
|
rs1783036349
|
|
NM_000535.7(PMS2):c.1599G>T (p.Val533=)
|
|
|
NM_000535.7(PMS2):c.15G>A (p.Glu5=)
|
rs1554309012
|
|
NM_000535.7(PMS2):c.15_16insCTCTC (p.Ser6fs)
|
rs2128865982
|
|
NM_000535.7(PMS2):c.1600G>T (p.Asp534Tyr)
|
rs1583317784
|
|
NM_000535.7(PMS2):c.1602C>T (p.Asp534=)
|
|
|
NM_000535.7(PMS2):c.1603T>A (p.Ser535Thr)
|
|
|
NM_000535.7(PMS2):c.1603T>C (p.Ser535Pro)
|
|
|
NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter)
|
rs1554297488
|
|
NM_000535.7(PMS2):c.1607A>G (p.Gln536Arg)
|
|
|
NM_000535.7(PMS2):c.1608G>T (p.Gln536His)
|
|
|
NM_000535.7(PMS2):c.1609G>T (p.Glu537Ter)
|
|
|
NM_000535.7(PMS2):c.1611G>A (p.Glu537=)
|
rs1562629833
|
|
NM_000535.7(PMS2):c.1613A>C (p.Lys538Thr)
|
|
|
NM_000535.7(PMS2):c.1614A>G (p.Lys538=)
|
rs1554297465
|
|
NM_000535.7(PMS2):c.1615G>T (p.Ala539Ser)
|
rs1783031685
|
|
NM_000535.7(PMS2):c.1616C>A (p.Ala539Glu)
|
|
|
NM_000535.7(PMS2):c.1617G>A (p.Ala539=)
|
rs776931237
|
|
NM_000535.7(PMS2):c.1617G>C (p.Ala539=)
|
|
|
NM_000535.7(PMS2):c.1618C>G (p.Pro540Ala)
|
|
|
NM_000535.7(PMS2):c.1618C>T (p.Pro540Ser)
|
|
|
NM_000535.7(PMS2):c.161T>C (p.Ile54Thr)
|
rs764565924
|
|
NM_000535.7(PMS2):c.1622A>G (p.Lys541Arg)
|
rs587781289
|
|
NM_000535.7(PMS2):c.1626T>C (p.Thr542=)
|
rs1554297442
|
|
NM_000535.7(PMS2):c.1627G>C (p.Asp543His)
|
|
|
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer)
|
rs1554306288
|
|
NM_000535.7(PMS2):c.163+1G>A
|
rs1064795705
|
|
NM_000535.7(PMS2):c.163+1G>T
|
rs1064795705
|
|
NM_000535.7(PMS2):c.163+2T>A
|
|
|
NM_000535.7(PMS2):c.163+2T>C
|
rs587779329
|
|
NM_000535.7(PMS2):c.163+2dup
|
|
|
NM_000535.7(PMS2):c.163+4A>C
|
|
|
NM_000535.7(PMS2):c.163+5G>A
|
|
|
NM_000535.7(PMS2):c.1630G>T (p.Asp544Tyr)
|
rs876660139
|
|
NM_000535.7(PMS2):c.1631A>G (p.Asp544Gly)
|
|
|
NM_000535.7(PMS2):c.1632C>A (p.Asp544Glu)
|
rs786203439
|
|
NM_000535.7(PMS2):c.1632C>T (p.Asp544=)
|
rs786203439
|
|
NM_000535.7(PMS2):c.1634C>A (p.Ser545Tyr)
|
|
|
NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys)
|
rs557906137
|
|
NM_000535.7(PMS2):c.1636T>C (p.Phe546Leu)
|
rs1554297427
|
|
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)
|
rs863224498
|
|
NM_000535.7(PMS2):c.1639dup (p.Ser547fs)
|
rs863224498
|
|
NM_000535.7(PMS2):c.164-108G>A
|
rs12538294
|
|
NM_000535.7(PMS2):c.164-108G>T
|
rs12538294
|
|
NM_000535.7(PMS2):c.164-108_164-107delinsCA
|
rs1785445205
|
|
NM_000535.7(PMS2):c.164-109_164-108delinsGC
|
rs1785445943
|
|
NM_000535.7(PMS2):c.164-1G>C
|
rs763308607
|
|
NM_000535.7(PMS2):c.164-4C>A
|
rs876658444
|
|
NM_000535.7(PMS2):c.164-4C>T
|
|
|
NM_000535.7(PMS2):c.164-5T>C
|
rs1554305071
|
|
NM_000535.7(PMS2):c.164-5T>G
|
rs1554305071
|
|
NM_000535.7(PMS2):c.164-5_164-3del
|
|
|
NM_000535.7(PMS2):c.164-9_178delinsGATCC
|
rs1583410952
|
|
NM_000535.7(PMS2):c.1640C>G (p.Ser547Ter)
|
|
|
NM_000535.7(PMS2):c.1641A>G (p.Ser547=)
|
|
|
NM_000535.7(PMS2):c.1644T>C (p.Asp548=)
|
rs786201630
|
|
NM_000535.7(PMS2):c.1645G>A (p.Val549Met)
|
rs1199136734
|
|
NM_000535.7(PMS2):c.1646T>C (p.Val549Ala)
|
rs779150753
|
|
NM_000535.7(PMS2):c.1646T>G (p.Val549Gly)
|
rs779150753
|
|
NM_000535.7(PMS2):c.1647G>A (p.Val549=)
|
rs1554297410
|
|
NM_000535.7(PMS2):c.164A>T (p.Asp55Val)
|
rs587781846
|
|
NM_000535.7(PMS2):c.1652G>T (p.Cys551Phe)
|
rs1554297409
|
|
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter)
|
rs876659162
|
|
NM_000535.7(PMS2):c.1653C>G (p.Cys551Trp)
|
rs876659162
|
|
NM_000535.7(PMS2):c.1653C>T (p.Cys551=)
|
rs876659162
|
|
NM_000535.7(PMS2):c.1654C>G (p.His552Asp)
|
rs786204114
|
|
NM_000535.7(PMS2):c.1658C>G (p.Ser553Ter)
|
|
|
NM_000535.7(PMS2):c.1658C>T (p.Ser553Leu)
|
|
|
NM_000535.7(PMS2):c.1659A>C (p.Ser553=)
|
|
|
NM_000535.7(PMS2):c.165T>C (p.Asp55=)
|
|
|
NM_000535.7(PMS2):c.1663C>G (p.Gln555Glu)
|
rs1554297399
|
|
NM_000535.7(PMS2):c.1663C>T (p.Gln555Ter)
|
|
|
NM_000535.7(PMS2):c.1664A>G (p.Gln555Arg)
|
rs745836140
|
|
NM_000535.7(PMS2):c.1665G>A (p.Gln555=)
|
rs876659285
|
|
NM_000535.7(PMS2):c.1666G>C (p.Glu556Gln)
|
rs786202656
|
|
NM_000535.7(PMS2):c.1667A>G (p.Glu556Gly)
|
rs2128725672
|
|
NM_000535.7(PMS2):c.166C>T (p.Leu56=)
|
rs371011390
|
|
NM_000535.7(PMS2):c.1670A>T (p.Asp557Val)
|
rs1562629043
|
|
NM_000535.7(PMS2):c.1671T>A (p.Asp557Glu)
|
|
|
NM_000535.7(PMS2):c.1671T>C (p.Asp557=)
|
rs1554297386
|
|
NM_000535.7(PMS2):c.1672A>G (p.Thr558Ala)
|
rs781106967
|
|
NM_000535.7(PMS2):c.1673C>A (p.Thr558Asn)
|
rs114037612
|
|
NM_000535.7(PMS2):c.1673C>G (p.Thr558Ser)
|
|
|
NM_000535.7(PMS2):c.1673C>T (p.Thr558Ile)
|
rs114037612
|
|
NM_000535.7(PMS2):c.1673_1674inv (p.Thr558Arg)
|
|
|
NM_000535.7(PMS2):c.1674C>A (p.Thr558=)
|
rs876658134
|
|
NM_000535.7(PMS2):c.1674C>G (p.Thr558=)
|
|
|
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
|
|
|
NM_000535.7(PMS2):c.1675_1705delinsAG (p.Gly559fs)
|
|
|
NM_000535.7(PMS2):c.1678del (p.Cys560fs)
|
|
|
NM_000535.7(PMS2):c.1679G>A (p.Cys560Tyr)
|
rs757989905
|
|
NM_000535.7(PMS2):c.1679_1707del (p.Gly559_Cys560insTer)
|
|
|
NM_000535.7(PMS2):c.167T>C (p.Leu56Pro)
|
|
|
NM_000535.7(PMS2):c.1681A>G (p.Lys561Glu)
|
rs1583316925
|
|
NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu)
|
rs764749700
|
|
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)
|
rs587778618
|
|
NM_000535.7(PMS2):c.1687_1693del (p.Arg563fs)
|
rs1064795345
|
|
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.1688_1689delinsAG (p.Arg563Gln)
|
rs587780725
|
|
NM_000535.7(PMS2):c.1693T>G (p.Leu565Val)
|
rs786202870
|
|
NM_000535.7(PMS2):c.1694T>C (p.Leu565Ser)
|
rs1783008091
|
|
NM_000535.7(PMS2):c.1694del (p.Leu565fs)
|
|
|
NM_000535.7(PMS2):c.1697C>T (p.Pro566Leu)
|
rs2128725121
|
|
NM_000535.7(PMS2):c.16A>T (p.Ser6Cys)
|
rs1786254768
|
|
NM_000535.7(PMS2):c.16_17dup (p.Ser6fs)
|
|
|
NM_000535.7(PMS2):c.1700A>G (p.Gln567Arg)
|
rs112104877
|
|
NM_000535.7(PMS2):c.1701G>A (p.Gln567=)
|
|
|
NM_000535.7(PMS2):c.1702C>T (p.Pro568Ser)
|
rs786204115
|
|
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg)
|
rs869312801
|
|
NM_000535.7(PMS2):c.1704A>G (p.Pro568=)
|
|
|
NM_000535.7(PMS2):c.1707T>A (p.Thr569=)
|
rs2128724949
|
|
NM_000535.7(PMS2):c.1707delinsAA (p.Asn570fs)
|
|
|
NM_000535.7(PMS2):c.1708A>C (p.Asn570His)
|
rs115670442
|
|
NM_000535.7(PMS2):c.1709A>T (p.Asn570Ile)
|
|
|
NM_000535.7(PMS2):c.1709dup (p.Asn570fs)
|
rs1783004175
|
|
NM_000535.7(PMS2):c.170A>C (p.Lys57Thr)
|
rs765474498
|
|
NM_000535.7(PMS2):c.1710T>C (p.Asn570=)
|
|
|
NM_000535.7(PMS2):c.1711del (p.Leu571fs)
|
|
|
NM_000535.7(PMS2):c.1712T>G (p.Leu571Arg)
|
rs1060503128
|
|
NM_000535.7(PMS2):c.1713C>G (p.Leu571=)
|
|
|
NM_000535.7(PMS2):c.1714G>T (p.Ala572Ser)
|
rs63751023
|
|
NM_000535.7(PMS2):c.1716A>G (p.Ala572=)
|
rs2128724756
|
|
NM_000535.7(PMS2):c.1717A>G (p.Thr573Ala)
|
|
|
NM_000535.7(PMS2):c.1718C>A (p.Thr573Asn)
|
rs876660076
|
|
NM_000535.7(PMS2):c.1718C>G (p.Thr573Ser)
|
rs876660076
|
|
NM_000535.7(PMS2):c.171G>C (p.Lys57Asn)
|
rs760031402
|
|
NM_000535.7(PMS2):c.1721C>T (p.Pro574Leu)
|
|
|
NM_000535.7(PMS2):c.1721dup (p.Asn575fs)
|
|
|
NM_000535.7(PMS2):c.1727C>A (p.Thr576Lys)
|
|
|
NM_000535.7(PMS2):c.1727C>T (p.Thr576Ile)
|
rs1554297301
|
|
NM_000535.7(PMS2):c.172C>A (p.Leu58Ile)
|
|
|
NM_000535.7(PMS2):c.172_173del (p.Lys57_Leu58insTer)
|
rs1785429855
|
|
NM_000535.7(PMS2):c.1731G>A (p.Lys577=)
|
rs1057523469
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys)
|
rs63750534
|
|
NM_000535.7(PMS2):c.1733G>A (p.Arg578His)
|
rs63750770
|
|
NM_000535.7(PMS2):c.1733G>T (p.Arg578Leu)
|
rs63750770
|
|
NM_000535.7(PMS2):c.1734T>A (p.Arg578=)
|
rs2128724400
|
|
NM_000535.7(PMS2):c.1736T>A (p.Phe579Tyr)
|
|
|
NM_000535.7(PMS2):c.1737T>A (p.Phe579Leu)
|
|
|
NM_000535.7(PMS2):c.1737del (p.Phe579fs)
|
rs1782994894
|
|
NM_000535.7(PMS2):c.1738A>C (p.Lys580Gln)
|
|
|
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)
|
rs267608169
|
|
NM_000535.7(PMS2):c.1739A>C (p.Lys580Thr)
|
rs1782993888
|
|
NM_000535.7(PMS2):c.173T>C (p.Leu58Pro)
|
|
|
NM_000535.7(PMS2):c.1742A>C (p.Lys581Thr)
|
rs1554297289
|
|
NM_000535.7(PMS2):c.1743del (p.Glu582fs)
|
rs1057517801
|
|
NM_000535.7(PMS2):c.1743dup (p.Glu582fs)
|
|
|
NM_000535.7(PMS2):c.1744G>C (p.Glu582Gln)
|
|
|
NM_000535.7(PMS2):c.1744_1745del (p.Glu582fs)
|
rs1782992250
|
|
NM_000535.7(PMS2):c.1746A>G (p.Glu582=)
|
|
|
NM_000535.7(PMS2):c.1746A>T (p.Glu582Asp)
|
|
|
NM_000535.7(PMS2):c.1748A>T (p.Glu583Val)
|
rs1562627848
|
|
NM_000535.7(PMS2):c.1751T>G (p.Ile584Ser)
|
|
|
NM_000535.7(PMS2):c.1753C>T (p.Leu585Phe)
|
rs63750947
|
|
NM_000535.7(PMS2):c.1756T>A (p.Ser586Thr)
|
|
|
NM_000535.7(PMS2):c.1756T>C (p.Ser586Pro)
|
rs1562627766
|
|
NM_000535.7(PMS2):c.1756del (p.Ser586fs)
|
|
|
NM_000535.7(PMS2):c.1757C>G (p.Ser586Cys)
|
rs1335723102
|
|
NM_000535.7(PMS2):c.1757C>T (p.Ser586Phe)
|
|
|
NM_000535.7(PMS2):c.1758C>A (p.Ser586=)
|
rs1380096472
|
|
NM_000535.7(PMS2):c.1759A>G (p.Ser587Gly)
|
rs1554297277
|
|
NM_000535.7(PMS2):c.1759A>T (p.Ser587Cys)
|
rs1554297277
|
|
NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile)
|
rs762100304
|
|
NM_000535.7(PMS2):c.1761T>C (p.Ser587=)
|
|
|
NM_000535.7(PMS2):c.1763C>T (p.Ser588Phe)
|
|
|
NM_000535.7(PMS2):c.1765G>A (p.Asp589Asn)
|
|
|
NM_000535.7(PMS2):c.1766A>G (p.Asp589Gly)
|
|
|
NM_000535.7(PMS2):c.1766A>T (p.Asp589Val)
|
rs774767419
|
|
NM_000535.7(PMS2):c.1767C>T (p.Asp589=)
|
rs1338436845
|
|
NM_000535.7(PMS2):c.1768A>G (p.Ile590Val)
|
rs63750476
|
|
NM_000535.7(PMS2):c.1769T>G (p.Ile590Ser)
|
|
|
NM_000535.7(PMS2):c.176del (p.Lys59fs)
|
rs1785429311
|
|
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)
|
rs764252217
|
|
NM_000535.7(PMS2):c.1771del (p.Cys591fs)
|
|
|
NM_000535.7(PMS2):c.1772G>C (p.Cys591Ser)
|
rs1583315717
|
|
NM_000535.7(PMS2):c.1776A>G (p.Gln592=)
|
rs1583315676
|
|
NM_000535.7(PMS2):c.1777A>T (p.Lys593Ter)
|
|
|
NM_000535.7(PMS2):c.1778del (p.Lys593fs)
|
rs766389591
|
|
NM_000535.7(PMS2):c.1779G>A (p.Lys593=)
|
|
|
NM_000535.7(PMS2):c.177G>C (p.Lys59Asn)
|
rs1785429079
|
|
NM_000535.7(PMS2):c.1781T>A (p.Leu594Ter)
|
|
|
NM_000535.7(PMS2):c.1782A>C (p.Leu594Phe)
|
|
|
NM_000535.7(PMS2):c.1783G>C (p.Val595Leu)
|
rs1171070752
|
|
NM_000535.7(PMS2):c.1784T>C (p.Val595Ala)
|
rs1554297236
|
|
NM_000535.7(PMS2):c.1785A>G (p.Val595=)
|
rs2128723511
|
|
NM_000535.7(PMS2):c.1786A>G (p.Asn596Asp)
|
rs1583315513
|
|
NM_000535.7(PMS2):c.1788_1789delinsGT (p.Asn596_Thr597delinsLysSer)
|
rs1554297233
|
|
NM_000535.7(PMS2):c.1789A>C (p.Thr597Pro)
|
rs1805318
|
|
NM_000535.7(PMS2):c.1789A>G (p.Thr597Ala)
|
rs1805318
|
|
NM_000535.7(PMS2):c.178G>T (p.Asp60Tyr)
|
rs587782176
|
|
NM_000535.7(PMS2):c.1790C>A (p.Thr597Asn)
|
|
|
NM_000535.7(PMS2):c.1790C>T (p.Thr597Ile)
|
|
|
NM_000535.7(PMS2):c.1791T>G (p.Thr597=)
|
rs63750278
|
|
NM_000535.7(PMS2):c.1792C>G (p.Gln598Glu)
|
|
|
NM_000535.7(PMS2):c.1792C>T (p.Gln598Ter)
|
rs1782978316
|
|
NM_000535.7(PMS2):c.1793A>G (p.Gln598Arg)
|
|
|
NM_000535.7(PMS2):c.1795G>A (p.Asp599Asn)
|
rs1380574195
|
|
NM_000535.7(PMS2):c.1796A>G (p.Asp599Gly)
|
rs878854039
|
|
NM_000535.7(PMS2):c.1799T>C (p.Met600Thr)
|
|
|
NM_000535.7(PMS2):c.179A>G (p.Asp60Gly)
|
rs771348650
|
|
NM_000535.7(PMS2):c.17G>A (p.Ser6Asn)
|
rs587781112
|
|
NM_000535.7(PMS2):c.1801T>C (p.Ser601Pro)
|
rs1782975271
|
|
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)
|
rs63750456
|
|
NM_000535.7(PMS2):c.1802C>T (p.Ser601Leu)
|
|
|
NM_000535.7(PMS2):c.1805C>T (p.Ala602Val)
|
|
|
NM_000535.7(PMS2):c.1806C>T (p.Ala602=)
|
rs376046767
|
|
NM_000535.7(PMS2):c.1807T>G (p.Ser603Ala)
|
rs2128723085
|
|
NM_000535.7(PMS2):c.1808C>T (p.Ser603Phe)
|
rs770841005
|
|
NM_000535.7(PMS2):c.1811A>G (p.Gln604Arg)
|
rs2128723018
|
|
NM_000535.7(PMS2):c.1812G>A (p.Gln604=)
|
rs63750788
|
|
NM_000535.7(PMS2):c.1812G>C (p.Gln604His)
|
rs63750788
|
|
NM_000535.7(PMS2):c.1812G>T (p.Gln604His)
|
|
|
NM_000535.7(PMS2):c.1813G>A (p.Val605Ile)
|
rs1782971627
|
|
NM_000535.7(PMS2):c.1813del (p.Val605fs)
|
|
|
NM_000535.7(PMS2):c.1814T>A (p.Val605Asp)
|
|
|
NM_000535.7(PMS2):c.1816del (p.Asp606fs)
|
|
|
NM_000535.7(PMS2):c.1819_1821delinsTTG (p.Val607Leu)
|
|
|
NM_000535.7(PMS2):c.1822G>A (p.Ala608Thr)
|
|
|
NM_000535.7(PMS2):c.1823C>T (p.Ala608Val)
|
rs1562627020
|
|
NM_000535.7(PMS2):c.1825G>A (p.Val609Met)
|
|
|
NM_000535.7(PMS2):c.1826T>C (p.Val609Ala)
|
rs1583315021
|
|
NM_000535.7(PMS2):c.1828A>C (p.Lys610Gln)
|
rs199700509
|
|
NM_000535.7(PMS2):c.1831A>G (p.Ile611Val)
|
|
|
NM_000535.7(PMS2):c.1831del (p.Ile611fs)
|
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.1832T>C (p.Ile611Thr)
|
rs1782966912
|
|
NM_000535.7(PMS2):c.1832T>G (p.Ile611Ser)
|
|
|
NM_000535.7(PMS2):c.1833T>C (p.Ile611=)
|
|
|
NM_000535.7(PMS2):c.1833T>G (p.Ile611Met)
|
rs1554297188
|
|
NM_000535.7(PMS2):c.1833del (p.Asn612fs)
|
|
|
NM_000535.7(PMS2):c.1839G>C (p.Lys613Asn)
|
rs1554297185
|
|
NM_000535.7(PMS2):c.183T>C (p.Tyr61=)
|
rs1562695554
|
|
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)
|
rs63750490
|
|
NM_000535.7(PMS2):c.1840_1843del (p.Lys614fs)
|
|
|
NM_000535.7(PMS2):c.1841A>C (p.Lys614Thr)
|
|
|
NM_000535.7(PMS2):c.1841A>G (p.Lys614Arg)
|
rs771892867
|
|
NM_000535.7(PMS2):c.1842A>G (p.Lys614=)
|
rs2128722527
|
|
NM_000535.7(PMS2):c.1842del (p.Val615fs)
|
|
|
NM_000535.7(PMS2):c.1843G>A (p.Val615Ile)
|
rs1782962260
|
|
NM_000535.7(PMS2):c.1847T>C (p.Val616Ala)
|
rs1583314800
|
|
NM_000535.7(PMS2):c.1848G>T (p.Val616=)
|
rs1041715800
|
|
NM_000535.7(PMS2):c.1849C>T (p.Pro617Ser)
|
rs864622096
|
|
NM_000535.7(PMS2):c.184G>A (p.Gly62Arg)
|
rs1182171111
|
|
NM_000535.7(PMS2):c.1850C>A (p.Pro617His)
|
|
|
NM_000535.7(PMS2):c.1850C>G (p.Pro617Arg)
|
rs747785888
|
|
NM_000535.7(PMS2):c.1851C>T (p.Pro617=)
|
rs1554297171
|
|
NM_000535.7(PMS2):c.1852C>G (p.Leu618Val)
|
rs1782959405
|
|
NM_000535.7(PMS2):c.1852C>T (p.Leu618=)
|
|
|
NM_000535.7(PMS2):c.1852del (p.Leu618fs)
|
|
|
NM_000535.7(PMS2):c.1853T>C (p.Leu618Pro)
|
rs63751253
|
|
NM_000535.7(PMS2):c.1854G>A (p.Leu618=)
|
rs876660784
|
|
NM_000535.7(PMS2):c.1854G>C (p.Leu618=)
|
rs876660784
|
|
NM_000535.7(PMS2):c.1855G>A (p.Asp619Asn)
|
rs1179605136
|
|
NM_000535.7(PMS2):c.1855del (p.Asp619fs)
|
rs1782958183
|
|
NM_000535.7(PMS2):c.1857C>A (p.Asp619Glu)
|
rs876661271
|
|
NM_000535.7(PMS2):c.1859T>A (p.Phe620Tyr)
|
|
|
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs)
|
rs756358866
|
|
NM_000535.7(PMS2):c.185G>A (p.Gly62Glu)
|
|
|
NM_000535.7(PMS2):c.185G>T (p.Gly62Val)
|
|
|
NM_000535.7(PMS2):c.1860T>C (p.Phe620=)
|
rs1583314594
|
|
NM_000535.7(PMS2):c.1861T>C (p.Ser621Pro)
|
|
|
NM_000535.7(PMS2):c.1861del (p.Ser621fs)
|
rs2128722209
|
|
NM_000535.7(PMS2):c.1863T>C (p.Ser621=)
|
rs786203962
|
|
NM_000535.7(PMS2):c.1863del (p.Ser621_Met622insTer)
|
rs1554297164
|
|
NM_000535.7(PMS2):c.1864_1865del (p.Met622fs)
|
rs1060503137
|
|
NM_000535.7(PMS2):c.1865_1887del (p.Met622fs)
|
|
|
NM_000535.7(PMS2):c.1867A>G (p.Ser623Gly)
|
|
|
NM_000535.7(PMS2):c.1867A>T (p.Ser623Cys)
|
rs1562626548
|
|
NM_000535.7(PMS2):c.1868G>A (p.Ser623Asn)
|
rs1562626526
|
|
NM_000535.7(PMS2):c.186A>G (p.Gly62=)
|
|
|
NM_000535.7(PMS2):c.1871C>A (p.Ser624Tyr)
|
|
|
NM_000535.7(PMS2):c.1871C>T (p.Ser624Phe)
|
|
|
NM_000535.7(PMS2):c.1874T>C (p.Leu625Ser)
|
rs63750835
|
|
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer)
|
rs786203073
|
|
NM_000535.7(PMS2):c.1877C>A (p.Ala626Asp)
|
rs786203121
|
|
NM_000535.7(PMS2):c.1877C>G (p.Ala626Gly)
|
rs786203121
|
|
NM_000535.7(PMS2):c.1878T>C (p.Ala626=)
|
|
|
NM_000535.7(PMS2):c.1880A>C (p.Lys627Thr)
|
|
|
NM_000535.7(PMS2):c.1882C>G (p.Arg628Gly)
|
rs63750451
|
|
NM_000535.7(PMS2):c.1884A>G (p.Arg628=)
|
rs876659286
|
|
NM_000535.7(PMS2):c.1887A>G (p.Ile629Met)
|
rs1583314135
|
|
NM_000535.7(PMS2):c.188T>C (p.Val63Ala)
|
rs1583410835
|
|
NM_000535.7(PMS2):c.1890G>A (p.Lys630=)
|
rs1782948207
|
|
NM_000535.7(PMS2):c.1890G>T (p.Lys630Asn)
|
|
|
NM_000535.7(PMS2):c.1893G>A (p.Gln631=)
|
rs1057524687
|
|
NM_000535.7(PMS2):c.1895T>C (p.Leu632Ser)
|
rs2128721689
|
|
NM_000535.7(PMS2):c.1895T>G (p.Leu632Ter)
|
|
|
NM_000535.7(PMS2):c.1896dup (p.His633fs)
|
|
|
NM_000535.7(PMS2):c.1897C>T (p.His633Tyr)
|
rs1583314065
|
|
NM_000535.7(PMS2):c.1898A>G (p.His633Arg)
|
rs63750024
|
|
NM_000535.7(PMS2):c.189G>A (p.Val63=)
|
rs786203074
|
|
NM_000535.7(PMS2):c.18C>G (p.Ser6Arg)
|
rs1221290124
|
|
NM_000535.7(PMS2):c.1900C>A (p.His634Asn)
|
|
|
NM_000535.7(PMS2):c.1902T>C (p.His634=)
|
rs376335675
|
|
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.1906G>T (p.Ala636Ser)
|
rs876658863
|
|
NM_000535.7(PMS2):c.1907C>T (p.Ala636Val)
|
rs1782943354
|
|
NM_000535.7(PMS2):c.1908del (p.Gln637fs)
|
rs1562626121
|
|
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)
|
rs1554297125
|
|
NM_000535.7(PMS2):c.1909_1913del (p.Gln637fs)
|
rs1562626011
|
|
NM_000535.7(PMS2):c.1909del (p.Gln637fs)
|
|
|
NM_000535.7(PMS2):c.1910A>G (p.Gln637Arg)
|
|
|
NM_000535.7(PMS2):c.1912C>T (p.Gln638Ter)
|
rs764342199
|
|
NM_000535.7(PMS2):c.1912del (p.Gln638fs)
|
rs1562626070
|
|
NM_000535.7(PMS2):c.1914A>C (p.Gln638His)
|
rs1583313823
|
|
NM_000535.7(PMS2):c.1916G>A (p.Ser639Asn)
|
rs876659769
|
|
NM_000535.7(PMS2):c.1916G>T (p.Ser639Ile)
|
|
|
NM_000535.7(PMS2):c.1917T>G (p.Ser639Arg)
|
|
|
NM_000535.7(PMS2):c.1918G>C (p.Glu640Gln)
|
rs886062400
|
|
NM_000535.7(PMS2):c.1918G>T (p.Glu640Ter)
|
|
|
NM_000535.7(PMS2):c.191A>G (p.Asp64Gly)
|
rs786203019
|
|
NM_000535.7(PMS2):c.1920A>G (p.Glu640=)
|
rs1060503113
|
|
NM_000535.7(PMS2):c.1921G>A (p.Gly641Arg)
|
rs1782938207
|
|
NM_000535.7(PMS2):c.1921G>T (p.Gly641Trp)
|
|
|
NM_000535.7(PMS2):c.1922G>T (p.Gly641Val)
|
rs1554297114
|
|
NM_000535.7(PMS2):c.1923G>A (p.Gly641=)
|
|
|
NM_000535.7(PMS2):c.1923G>C (p.Gly641=)
|
rs763278245
|
|
NM_000535.7(PMS2):c.1924G>A (p.Glu642Lys)
|
rs752772040
|
|
NM_000535.7(PMS2):c.1927C>G (p.Gln643Glu)
|
rs63751422
|
|
NM_000535.7(PMS2):c.1929_1930del (p.Asn644fs)
|
rs1782935566
|
|
NM_000535.7(PMS2):c.192T>A (p.Asp64Glu)
|
|
|
NM_000535.7(PMS2):c.1930_1937del (p.Asn644fs)
|
|
|
NM_000535.7(PMS2):c.1934A>G (p.Tyr645Cys)
|
rs786203075
|
|
NM_000535.7(PMS2):c.1936A>G (p.Arg646Gly)
|
rs369582237
|
|
NM_000535.7(PMS2):c.1936A>T (p.Arg646Trp)
|
rs369582237
|
|
NM_000535.7(PMS2):c.1936del (p.Arg646fs)
|
rs1782934080
|
|
NM_000535.7(PMS2):c.1937G>A (p.Arg646Lys)
|
rs372341850
|
|
NM_000535.7(PMS2):c.1937G>C (p.Arg646Thr)
|
rs372341850
|
|
NM_000535.7(PMS2):c.1938del (p.Lys647fs)
|
rs2128720948
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.193C>A (p.Leu65Ile)
|
rs1562695468
|
|
NM_000535.7(PMS2):c.193C>G (p.Leu65Val)
|
rs1562695468
|
|
NM_000535.7(PMS2):c.1940A>G (p.Lys647Arg)
|
rs1554297100
|
|
NM_000535.7(PMS2):c.1944T>G (p.Phe648Leu)
|
rs144011908
|
|
NM_000535.7(PMS2):c.1946G>A (p.Arg649Lys)
|
rs1583313460
|
|
NM_000535.7(PMS2):c.1948G>C (p.Ala650Pro)
|
rs1782930647
|
|
NM_000535.7(PMS2):c.1949C>T (p.Ala650Val)
|
rs886062399
|
|
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg)
|
rs749141001
|
|
NM_000535.7(PMS2):c.1955T>A (p.Ile652Asn)
|
rs1554297091
|
|
NM_000535.7(PMS2):c.1956T>A (p.Ile652=)
|
rs267608168
|
|
NM_000535.7(PMS2):c.1957del (p.Cys653fs)
|
|
|
NM_000535.7(PMS2):c.195T>C (p.Leu65=)
|
rs780080040
|
|
NM_000535.7(PMS2):c.1964G>A (p.Gly655Glu)
|
rs1554297077
|
|
NM_000535.7(PMS2):c.1966G>A (p.Glu656Lys)
|
rs876658931
|
|
NM_000535.7(PMS2):c.1970_2006+9dup
|
|
|
NM_000535.7(PMS2):c.1970del (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.1970dup (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.1972C>G (p.Gln658Glu)
|
rs1172837844
|
|
NM_000535.7(PMS2):c.1975G>A (p.Ala659Thr)
|
rs786203095
|
|
NM_000535.7(PMS2):c.1976C>T (p.Ala659Val)
|
|
|
NM_000535.7(PMS2):c.1977A>C (p.Ala659=)
|
|
|
NM_000535.7(PMS2):c.1979C>T (p.Ala660Val)
|
|
|
NM_000535.7(PMS2):c.1981G>T (p.Glu661Ter)
|
rs778531080
|
|
NM_000535.7(PMS2):c.1982A>C (p.Glu661Ala)
|
|
|
NM_000535.7(PMS2):c.1984G>A (p.Asp662Asn)
|
rs1562625087
|
|
NM_000535.7(PMS2):c.1984G>C (p.Asp662His)
|
rs1562625087
|
|
NM_000535.7(PMS2):c.1985A>T (p.Asp662Val)
|
rs1320079782
|
|
NM_000535.7(PMS2):c.1987G>T (p.Glu663Ter)
|
rs1554297061
|
|
NM_000535.7(PMS2):c.1989A>C (p.Glu663Asp)
|
rs1562625015
|
|
NM_000535.7(PMS2):c.1989A>G (p.Glu663=)
|
rs1562625015
|
|
NM_000535.7(PMS2):c.198T>C (p.Ile66=)
|
rs1554305014
|
|
NM_000535.7(PMS2):c.1990C>A (p.Leu664Ile)
|
|
|
NM_000535.7(PMS2):c.1990C>T (p.Leu664=)
|
|
|
NM_000535.7(PMS2):c.1991T>C (p.Leu664Pro)
|
|
|
NM_000535.7(PMS2):c.1996A>C (p.Lys666Gln)
|
|
|
NM_000535.7(PMS2):c.1997A>G (p.Lys666Arg)
|
|
|
NM_000535.7(PMS2):c.1997A>T (p.Lys666Ile)
|
|
|
NM_000535.7(PMS2):c.1999G>C (p.Glu667Gln)
|
rs587780045
|
|
NM_000535.7(PMS2):c.1999G>T (p.Glu667Ter)
|
|
|
NM_000535.7(PMS2):c.19T>C (p.Ser7Pro)
|
rs1064793232
|
|
NM_000535.7(PMS2):c.19_23+26delinsCC
|
|
|
NM_000535.7(PMS2):c.1A>C (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.1A>T (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.2000A>G (p.Glu667Gly)
|
rs1404270894
|
|
NM_000535.7(PMS2):c.2001G>A (p.Glu667=)
|
rs1562624926
|
|
NM_000535.7(PMS2):c.2001_2002del (p.Glu667fs)
|
rs1554297058
|
|
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val)
|
rs869320619
|
|
NM_000535.7(PMS2):c.2003T>G (p.Ile668Arg)
|
rs1562624877
|
|
NM_000535.7(PMS2):c.2004A>G (p.Ile668Met)
|
rs1583312840
|
|
NM_000535.7(PMS2):c.2005A>T (p.Ser669Cys)
|
rs1554297049
|
|
NM_000535.7(PMS2):c.2005dup (p.Ser669fs)
|
|
|
NM_000535.7(PMS2):c.2006+1G>A
|
rs1554297040
|
|
NM_000535.7(PMS2):c.2006+20C>G
|
rs1554297036
|
|
NM_000535.7(PMS2):c.2006+3A>G
|
rs1064793866
|
|
NM_000535.7(PMS2):c.2006+5del
|
rs1782913891
|
|
NM_000535.7(PMS2):c.2006G>A (p.Ser669Asn)
|
|
|
NM_000535.7(PMS2):c.2006G>T (p.Ser669Ile)
|
|
|
NM_000535.7(PMS2):c.2006_2006+4del
|
rs771928911
|
|
NM_000535.7(PMS2):c.2007-1G>A
|
rs267608170
|
|
NM_000535.7(PMS2):c.2007-1G>C
|
|
|
NM_000535.7(PMS2):c.2007-2A>G
|
rs587782336
|
|
NM_000535.7(PMS2):c.2007-3C>T
|
|
|
NM_000535.7(PMS2):c.2007-4_2007-2delinsACG
|
|
|
NM_000535.7(PMS2):c.2007-6C>G
|
rs376018314
|
|
NM_000535.7(PMS2):c.2007-6_2007-4delinsTTA
|
|
|
NM_000535.7(PMS2):c.2007T>A (p.Ser669Arg)
|
|
|
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu)
|
rs1554295980
|
|
NM_000535.7(PMS2):c.2011A>G (p.Thr671Ala)
|
rs876661087
|
|
NM_000535.7(PMS2):c.2012C>A (p.Thr671Lys)
|
|
|
NM_000535.7(PMS2):c.2013G>T (p.Thr671=)
|
rs771513870
|
|
NM_000535.7(PMS2):c.2015T>A (p.Met672Lys)
|
rs1554295972
|
|
NM_000535.7(PMS2):c.2021C>T (p.Ala674Val)
|
|
|
NM_000535.7(PMS2):c.2024A>C (p.Glu675Ala)
|
|
|
NM_000535.7(PMS2):c.2024A>G (p.Glu675Gly)
|
|
|
NM_000535.7(PMS2):c.2025A>G (p.Glu675=)
|
rs1057522947
|
|
NM_000535.7(PMS2):c.2025A>T (p.Glu675Asp)
|
rs1057522947
|
|
NM_000535.7(PMS2):c.2026_2027del (p.Met676fs)
|
|
|
NM_000535.7(PMS2):c.2028G>T (p.Met676Ile)
|
|
|
NM_000535.7(PMS2):c.2029G>A (p.Glu677Lys)
|
|
|
NM_000535.7(PMS2):c.2029G>T (p.Glu677Ter)
|
|
|
NM_000535.7(PMS2):c.2030A>C (p.Glu677Ala)
|
rs1554295953
|
|
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu)
|
rs878854041
|
|
NM_000535.7(PMS2):c.2037T>A (p.Ile679=)
|
|
|
NM_000535.7(PMS2):c.2037T>C (p.Ile679=)
|
|
|
NM_000535.7(PMS2):c.2037T>G (p.Ile679Met)
|
rs63751026
|
|
NM_000535.7(PMS2):c.2039G>C (p.Gly680Ala)
|
|
|
NM_000535.7(PMS2):c.203_208del (p.Val68_Ser69del)
|
rs864622506
|
|
NM_000535.7(PMS2):c.2040T>A (p.Gly680=)
|
|
|
NM_000535.7(PMS2):c.2040T>C (p.Gly680=)
|
|
|
NM_000535.7(PMS2):c.2041C>T (p.Gln681Ter)
|
rs1782465728
|
|
NM_000535.7(PMS2):c.2041del (p.Gln681fs)
|
|
|
NM_000535.7(PMS2):c.2043G>A (p.Gln681=)
|
rs876658953
|
|
NM_000535.7(PMS2):c.2043G>C (p.Gln681His)
|
|
|
NM_000535.7(PMS2):c.2043G>T (p.Gln681His)
|
rs876658953
|
|
NM_000535.7(PMS2):c.2045T>A (p.Phe682Tyr)
|
|
|
NM_000535.7(PMS2):c.2045T>G (p.Phe682Cys)
|
|
|
NM_000535.7(PMS2):c.2047A>C (p.Asn683His)
|
|
|
NM_000535.7(PMS2):c.2047A>T (p.Asn683Tyr)
|
rs786202668
|
|
NM_000535.7(PMS2):c.2049C>G (p.Asn683Lys)
|
rs752950007
|
|
NM_000535.7(PMS2):c.2050C>A (p.Leu684Met)
|
|
|
NM_000535.7(PMS2):c.2053G>A (p.Gly685Arg)
|
rs1583299418
|
|
NM_000535.7(PMS2):c.2053G>C (p.Gly685Arg)
|
|
|
NM_000535.7(PMS2):c.2054G>T (p.Gly685Val)
|
|
|
NM_000535.7(PMS2):c.2057T>C (p.Phe686Ser)
|
rs2128704084
|
|
NM_000535.7(PMS2):c.2059A>G (p.Ile687Val)
|
rs778935437
|
|
NM_000535.7(PMS2):c.205del (p.Ser69fs)
|
rs2128830113
|
|
NM_000535.7(PMS2):c.2062A>T (p.Ile688Leu)
|
rs1060503144
|
|
NM_000535.7(PMS2):c.2063T>G (p.Ile688Arg)
|
|
|
NM_000535.7(PMS2):c.2066C>G (p.Thr689Ser)
|
|
|
NM_000535.7(PMS2):c.2066C>T (p.Thr689Ile)
|
rs1254554953
|
|
NM_000535.7(PMS2):c.2067C>A (p.Thr689=)
|
rs1583299269
|
|
NM_000535.7(PMS2):c.2067C>G (p.Thr689=)
|
|
|
NM_000535.7(PMS2):c.2067C>T (p.Thr689=)
|
rs1583299269
|
|
NM_000535.7(PMS2):c.2068A>T (p.Lys690Ter)
|
|
|
NM_000535.7(PMS2):c.2069A>G (p.Lys690Arg)
|
rs876661164
|
|
NM_000535.7(PMS2):c.206C>A (p.Ser69Ter)
|
rs730881914
|
|
NM_000535.7(PMS2):c.206C>T (p.Ser69Leu)
|
rs730881914
|
|
NM_000535.7(PMS2):c.2070A>G (p.Lys690=)
|
rs786201749
|
|
NM_000535.7(PMS2):c.2070A>T (p.Lys690Asn)
|
rs786201749
|
|
NM_000535.7(PMS2):c.2075A>G (p.Asn692Ser)
|
rs1562615666
|
|
NM_000535.7(PMS2):c.2076T>C (p.Asn692=)
|
rs1554295887
|
|
NM_000535.7(PMS2):c.2077G>A (p.Glu693Lys)
|
|
|
NM_000535.7(PMS2):c.2078A>G (p.Glu693Gly)
|
|
|
NM_000535.7(PMS2):c.2079G>A (p.Glu693=)
|
rs1583299143
|
|
NM_000535.7(PMS2):c.2079G>T (p.Glu693Asp)
|
|
|
NM_000535.7(PMS2):c.2080G>C (p.Asp694His)
|
rs766478637
|
|
NM_000535.7(PMS2):c.2080G>T (p.Asp694Tyr)
|
|
|
NM_000535.7(PMS2):c.2080_2081delinsAT (p.Asp694Ile)
|
|
|
NM_000535.7(PMS2):c.2081A>C (p.Asp694Ala)
|
|
|
NM_000535.7(PMS2):c.2081A>G (p.Asp694Gly)
|
rs1554295876
|
|
NM_000535.7(PMS2):c.2082T>C (p.Asp694=)
|
rs2128703697
|
|
NM_000535.7(PMS2):c.2083A>C (p.Ile695Leu)
|
rs1313824270
|
|
NM_000535.7(PMS2):c.2084T>A (p.Ile695Asn)
|
|
|
NM_000535.7(PMS2):c.2084T>G (p.Ile695Ser)
|
|
|
NM_000535.7(PMS2):c.2085C>A (p.Ile695=)
|
|
|
NM_000535.7(PMS2):c.2085C>T (p.Ile695=)
|
rs757157176
|
|
NM_000535.7(PMS2):c.2086T>C (p.Phe696Leu)
|
|
|
NM_000535.7(PMS2):c.2086T>G (p.Phe696Val)
|
|
|
NM_000535.7(PMS2):c.2088C>A (p.Phe696Leu)
|
|
|
NM_000535.7(PMS2):c.2088C>T (p.Phe696=)
|
|
|
NM_000535.7(PMS2):c.2089A>C (p.Ile697Leu)
|
rs1554295859
|
|
NM_000535.7(PMS2):c.2089A>G (p.Ile697Val)
|
rs1554295859
|
|
NM_000535.7(PMS2):c.208G>A (p.Asp70Asn)
|
|
|
NM_000535.7(PMS2):c.208G>T (p.Asp70Tyr)
|
|
|
NM_000535.7(PMS2):c.208_209del (p.Asp70fs)
|
|
|
NM_000535.7(PMS2):c.2090T>C (p.Ile697Thr)
|
rs1583299036
|
|
NM_000535.7(PMS2):c.2091A>G (p.Ile697Met)
|
rs1554295855
|
|
NM_000535.7(PMS2):c.2091_2092delinsGGACCATGGACCATGGACCA (p.Ile697_Val698delinsMetAspHisGlyProTrpThrMet)
|
|
|
NM_000535.7(PMS2):c.2092G>A (p.Val698Met)
|
rs751551006
|
|
NM_000535.7(PMS2):c.2093T>G (p.Val698Gly)
|
rs1085308060
|
|
NM_000535.7(PMS2):c.2094G>T (p.Val698=)
|
rs1583298969
|
|
NM_000535.7(PMS2):c.2095G>A (p.Asp699Asn)
|
rs587781317
|
|
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)
|
rs587781317
|
|
NM_000535.7(PMS2):c.2096A>G (p.Asp699Gly)
|
rs878854043
|
|
NM_000535.7(PMS2):c.2097C>G (p.Asp699Glu)
|
rs1064793501
|
|
NM_000535.7(PMS2):c.2097C>T (p.Asp699=)
|
rs1064793501
|
|
NM_000535.7(PMS2):c.2098C>G (p.Gln700Glu)
|
|
|
NM_000535.7(PMS2):c.2099A>G (p.Gln700Arg)
|
|
|
NM_000535.7(PMS2):c.209A>G (p.Asp70Gly)
|
rs1554305000
|
|
NM_000535.7(PMS2):c.209A>T (p.Asp70Val)
|
|
|
NM_000535.7(PMS2):c.20C>G (p.Ser7Trp)
|
rs587780048
|
|
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu)
|
rs587780048
|
|
NM_000535.7(PMS2):c.2100G>A (p.Gln700=)
|
rs1554295833
|
|
NM_000535.7(PMS2):c.2101C>T (p.His701Tyr)
|
rs763866879
|
|
NM_000535.7(PMS2):c.2102A>G (p.His701Arg)
|
rs1583298873
|
|
NM_000535.7(PMS2):c.2104G>A (p.Ala702Thr)
|
rs1554295821
|
|
NM_000535.7(PMS2):c.2104G>T (p.Ala702Ser)
|
rs1554295821
|
|
NM_000535.7(PMS2):c.2105C>A (p.Ala702Asp)
|
|
|
NM_000535.7(PMS2):c.2105C>T (p.Ala702Val)
|
|
|
NM_000535.7(PMS2):c.2106C>A (p.Ala702=)
|
rs786202273
|
|
NM_000535.7(PMS2):c.2106del (p.Thr703fs)
|
|
|
NM_000535.7(PMS2):c.2108C>A (p.Thr703Lys)
|
rs370196722
|
|
NM_000535.7(PMS2):c.2109G>C (p.Thr703=)
|
rs775355718
|
|
NM_000535.7(PMS2):c.210C>G (p.Asp70Glu)
|
rs1554304997
|
|
NM_000535.7(PMS2):c.210C>T (p.Asp70=)
|
|
|
NM_000535.7(PMS2):c.2110G>T (p.Asp704Tyr)
|
|
|
NM_000535.7(PMS2):c.2113G>T (p.Glu705Ter)
|
rs267608161
|
|
NM_000535.7(PMS2):c.2115G>C (p.Glu705Asp)
|
rs1562615196
|
|
NM_000535.7(PMS2):c.2117A>G (p.Lys706Arg)
|
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.2118G>C (p.Lys706Asn)
|
rs776238286
|
|
NM_000535.7(PMS2):c.2119T>C (p.Tyr707His)
|
rs1583298644
|
|
NM_000535.7(PMS2):c.2119del (p.Tyr707fs)
|
|
|
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
|
|
|
NM_000535.7(PMS2):c.2120A>G (p.Tyr707Cys)
|
rs1554295795
|
|
NM_000535.7(PMS2):c.2121T>C (p.Tyr707=)
|
rs1562615123
|
|
NM_000535.7(PMS2):c.2121T>G (p.Tyr707Ter)
|
|
|
NM_000535.7(PMS2):c.2123del (p.Asn708fs)
|
rs781078805
|
|
NM_000535.7(PMS2):c.2124C>G (p.Asn708Lys)
|
|
|
NM_000535.7(PMS2):c.2126T>C (p.Phe709Ser)
|
rs1583298549
|
|
NM_000535.7(PMS2):c.2127C>A (p.Phe709Leu)
|
|
|
NM_000535.7(PMS2):c.2127C>G (p.Phe709Leu)
|
rs199943748
|
|
NM_000535.7(PMS2):c.2128G>T (p.Glu710Ter)
|
|
|
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser)
|
rs587780049
|
|
NM_000535.7(PMS2):c.2130G>A (p.Glu710=)
|
rs1583298471
|
|
NM_000535.7(PMS2):c.2130G>C (p.Glu710Asp)
|
|
|
NM_000535.7(PMS2):c.2134C>T (p.Leu712=)
|
rs1583298448
|
|
NM_000535.7(PMS2):c.2135T>C (p.Leu712Pro)
|
rs2128702863
|
|
NM_000535.7(PMS2):c.2135del (p.Leu712fs)
|
|
|
NM_000535.7(PMS2):c.2136G>A (p.Leu712=)
|
|
|
NM_000535.7(PMS2):c.2136G>C (p.Leu712=)
|
rs1554295780
|
|
NM_000535.7(PMS2):c.2137C>A (p.Gln713Lys)
|
rs876659900
|
|
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)
|
rs876659900
|
|
NM_000535.7(PMS2):c.2139G>C (p.Gln713His)
|
|
|
NM_000535.7(PMS2):c.213T>A (p.Asn71Lys)
|
|
|
NM_000535.7(PMS2):c.213T>C (p.Asn71=)
|
rs1554304994
|
|
NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter)
|
rs1057524433
|
|
NM_000535.7(PMS2):c.2141A>G (p.Gln714Arg)
|
|
|
NM_000535.7(PMS2):c.2141A>T (p.Gln714Leu)
|
rs1160860634
|
|
NM_000535.7(PMS2):c.2142G>A (p.Gln714=)
|
|
|
NM_000535.7(PMS2):c.2143C>T (p.His715Tyr)
|
rs747494931
|
|
NM_000535.7(PMS2):c.2144A>C (p.His715Pro)
|
rs773913260
|
|
NM_000535.7(PMS2):c.2144A>G (p.His715Arg)
|
rs773913260
|
|
NM_000535.7(PMS2):c.2146A>G (p.Thr716Ala)
|
rs772637411
|
|
NM_000535.7(PMS2):c.2148C>G (p.Thr716=)
|
rs748404138
|
|
NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs)
|
rs1785419483
|
|
NM_000535.7(PMS2):c.2151G>T (p.Val717=)
|
rs1583298278
|
|
NM_000535.7(PMS2):c.2153T>C (p.Leu718Pro)
|
rs755117943
|
|
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg)
|
rs587782559
|
|
NM_000535.7(PMS2):c.2156del (p.Gln719fs)
|
rs786201062
|
|
NM_000535.7(PMS2):c.2157G>A (p.Gln719=)
|
rs1554295735
|
|
NM_000535.7(PMS2):c.2159G>A (p.Gly720Glu)
|
rs2128702406
|
|
NM_000535.7(PMS2):c.215G>T (p.Gly72Val)
|
rs730881915
|
|
NM_000535.7(PMS2):c.2160G>A (p.Gly720=)
|
rs546441038
|
|
NM_000535.7(PMS2):c.2160G>T (p.Gly720=)
|
|
|
NM_000535.7(PMS2):c.2161C>A (p.Gln721Lys)
|
|
|
NM_000535.7(PMS2):c.2162A>T (p.Gln721Leu)
|
|
|
NM_000535.7(PMS2):c.2165G>T (p.Arg722Met)
|
|
|
NM_000535.7(PMS2):c.2166G>A (p.Arg722=)
|
rs863224367
|
|
NM_000535.7(PMS2):c.2166G>C (p.Arg722Ser)
|
|
|
NM_000535.7(PMS2):c.2167C>A (p.Leu723Ile)
|
|
|
NM_000535.7(PMS2):c.2168T>C (p.Leu723Pro)
|
rs1246922900
|
|
NM_000535.7(PMS2):c.2169C>T (p.Leu723=)
|
rs1782434028
|
|
NM_000535.7(PMS2):c.216A>G (p.Gly72=)
|
rs568370805
|
|
NM_000535.7(PMS2):c.2170A>G (p.Ile724Val)
|
|
|
NM_000535.7(PMS2):c.2171T>C (p.Ile724Thr)
|
rs1060503123
|
|
NM_000535.7(PMS2):c.2171T>G (p.Ile724Arg)
|
|
|
NM_000535.7(PMS2):c.2172A>G (p.Ile724Met)
|
rs1562614497
|
|
NM_000535.7(PMS2):c.2173G>A (p.Ala725Thr)
|
rs1303835934
|
|
NM_000535.7(PMS2):c.2174+1G>T
|
|
|
NM_000535.7(PMS2):c.2174+2T>G
|
|
|
NM_000535.7(PMS2):c.2174+2del
|
|
|
NM_000535.7(PMS2):c.2174+3G>A
|
rs1400193171
|
|
NM_000535.7(PMS2):c.2174+3G>C
|
rs1400193171
|
|
NM_000535.7(PMS2):c.2174+4A>G
|
|
|
NM_000535.7(PMS2):c.2174+5G>T
|
|
|
NM_000535.7(PMS2):c.2174C>A (p.Ala725Glu)
|
rs150630090
|
|
NM_000535.7(PMS2):c.2175-11G>T
|
rs538914402
|
|
NM_000535.7(PMS2):c.2175-1G>A
|
|
|
NM_000535.7(PMS2):c.2175-1G>T
|
|
|
NM_000535.7(PMS2):c.2175-2A>G
|
|
|
NM_000535.7(PMS2):c.2175-3C>T
|
rs1326163718
|
|
NM_000535.7(PMS2):c.2175-4del
|
rs1781995910
|
|
NM_000535.7(PMS2):c.2175-5T>C
|
rs1583286414
|
|
NM_000535.7(PMS2):c.2175A>T (p.Ala725=)
|
rs769116749
|
|
NM_000535.7(PMS2):c.2176C>T (p.Pro726Ser)
|
rs1407555810
|
|
NM_000535.7(PMS2):c.2177del (p.Pro726fs)
|
|
|
NM_000535.7(PMS2):c.217T>C (p.Cys73Arg)
|
rs1583410505
|
|
NM_000535.7(PMS2):c.2180dup (p.Thr728fs)
|
rs1583286301
|
|
NM_000535.7(PMS2):c.2181G>A (p.Gln727=)
|
rs1583286283
|
|
NM_000535.7(PMS2):c.2181G>T (p.Gln727His)
|
|
|
NM_000535.7(PMS2):c.2184T>C (p.Thr728=)
|
|
|
NM_000535.7(PMS2):c.2184T>G (p.Thr728=)
|
|
|
NM_000535.7(PMS2):c.2185C>A (p.Leu729Ile)
|
|
|
NM_000535.7(PMS2):c.2185C>G (p.Leu729Val)
|
rs1554294503
|
|
NM_000535.7(PMS2):c.2185C>T (p.Leu729Phe)
|
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.2189A>C (p.Asn730Thr)
|
|
|
NM_000535.7(PMS2):c.218G>A (p.Cys73Tyr)
|
rs1326865470
|
|
NM_000535.7(PMS2):c.2190C>A (p.Asn730Lys)
|
|
|
NM_000535.7(PMS2):c.2190C>G (p.Asn730Lys)
|
|
|
NM_000535.7(PMS2):c.2190C>T (p.Asn730=)
|
rs756337875
|
|
NM_000535.7(PMS2):c.2191T>A (p.Leu731Ile)
|
|
|
NM_000535.7(PMS2):c.2191T>C (p.Leu731=)
|
|
|
NM_000535.7(PMS2):c.2191T>G (p.Leu731Val)
|
|
|
NM_000535.7(PMS2):c.2192T>A (p.Leu731Ter)
|
rs1060503110
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.2193A>G (p.Leu731=)
|
rs2128683721
|
|
NM_000535.7(PMS2):c.2194A>G (p.Thr732Ala)
|
rs587781958
|
|
NM_000535.7(PMS2):c.2195C>A (p.Thr732Asn)
|
|
|
NM_000535.7(PMS2):c.2195C>G (p.Thr732Ser)
|
|
|
NM_000535.7(PMS2):c.2195C>T (p.Thr732Ile)
|
|
|
NM_000535.7(PMS2):c.2197G>A (p.Ala733Thr)
|
|
|
NM_000535.7(PMS2):c.2197del (p.Ala733fs)
|
|
|
NM_000535.7(PMS2):c.2198C>T (p.Ala733Val)
|
|
|
NM_000535.7(PMS2):c.2199T>G (p.Ala733=)
|
|
|
NM_000535.7(PMS2):c.21G>A (p.Ser7=)
|
rs587780726
|
|
NM_000535.7(PMS2):c.21G>C (p.Ser7=)
|
rs587780726
|
|
NM_000535.7(PMS2):c.21G>T (p.Ser7=)
|
|
|
NM_000535.7(PMS2):c.2200G>A (p.Val734Ile)
|
rs1467072152
|
|
NM_000535.7(PMS2):c.2200G>C (p.Val734Leu)
|
|
|
NM_000535.7(PMS2):c.2200G>T (p.Val734Phe)
|
|
|
NM_000535.7(PMS2):c.2203A>G (p.Asn735Asp)
|
rs1554294476
|
|
NM_000535.7(PMS2):c.2204A>G (p.Asn735Ser)
|
|
|
NM_000535.7(PMS2):c.2205T>C (p.Asn735=)
|
rs1200877781
|
|
NM_000535.7(PMS2):c.2205T>G (p.Asn735Lys)
|
|
|
NM_000535.7(PMS2):c.2206G>A (p.Glu736Lys)
|
|
|
NM_000535.7(PMS2):c.2206G>T (p.Glu736Ter)
|
|
|
NM_000535.7(PMS2):c.2207A>G (p.Glu736Gly)
|
|
|
NM_000535.7(PMS2):c.2208del (p.Ala737fs)
|
rs2128683310
|
|
NM_000535.7(PMS2):c.2209G>A (p.Ala737Thr)
|
rs1583285937
|
|
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg)
|
rs1554304979
|
|
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg)
|
rs1554304979
|
|
NM_000535.7(PMS2):c.2210C>A (p.Ala737Asp)
|
rs2128683245
|
|
NM_000535.7(PMS2):c.2211T>C (p.Ala737=)
|
rs2128683220
|
|
NM_000535.7(PMS2):c.2212G>A (p.Val738Ile)
|
|
|
NM_000535.7(PMS2):c.2212G>C (p.Val738Leu)
|
rs758225108
|
|
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe)
|
rs758225108
|
|
NM_000535.7(PMS2):c.2213T>A (p.Val738Asp)
|
|
|
NM_000535.7(PMS2):c.2213T>C (p.Val738Ala)
|
rs1583285889
|
|
NM_000535.7(PMS2):c.2215C>T (p.Leu739=)
|
|
|
NM_000535.7(PMS2):c.2217G>C (p.Leu739=)
|
rs752718686
|
|
NM_000535.7(PMS2):c.2217G>T (p.Leu739=)
|
|
|
NM_000535.7(PMS2):c.2218A>G (p.Ile740Val)
|
|
|
NM_000535.7(PMS2):c.2219T>C (p.Ile740Thr)
|
rs1554294462
|
|
NM_000535.7(PMS2):c.221G>C (p.Gly74Ala)
|
rs876661272
|
|
NM_000535.7(PMS2):c.2221G>C (p.Glu741Gln)
|
|
|
NM_000535.7(PMS2):c.2221G>T (p.Glu741Ter)
|
|
|
NM_000535.7(PMS2):c.2223A>G (p.Glu741=)
|
rs2128682957
|
|
NM_000535.7(PMS2):c.2224A>C (p.Asn742His)
|
|
|
NM_000535.7(PMS2):c.2224A>G (p.Asn742Asp)
|
|
|
NM_000535.7(PMS2):c.2225A>G (p.Asn742Ser)
|
|
|
NM_000535.7(PMS2):c.2225dup (p.Asn742fs)
|
|
|
NM_000535.7(PMS2):c.2226T>C (p.Asn742=)
|
rs786202755
|
|
NM_000535.7(PMS2):c.2227C>A (p.Leu743Met)
|
|
|
NM_000535.7(PMS2):c.2227C>T (p.Leu743=)
|
rs1583285770
|
|
NM_000535.7(PMS2):c.2232A>T (p.Glu744Asp)
|
|
|
NM_000535.7(PMS2):c.2233A>G (p.Ile745Val)
|
rs1562605133
|
|
NM_000535.7(PMS2):c.2235A>G (p.Ile745Met)
|
rs1554294453
|
|
NM_000535.7(PMS2):c.2236T>A (p.Phe746Ile)
|
|
|
NM_000535.7(PMS2):c.2236T>C (p.Phe746Leu)
|
|
|
NM_000535.7(PMS2):c.2237T>G (p.Phe746Cys)
|
|
|
NM_000535.7(PMS2):c.2238T>C (p.Phe746=)
|
rs2128682695
|
|
NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter)
|
rs1554294448
|
|
NM_000535.7(PMS2):c.223del (p.Gly74_Val75insTer)
|
rs1554304974
|
|
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs)
|
rs267608173
|
|
NM_000535.7(PMS2):c.2244G>C (p.Lys748Asn)
|
rs1443656360
|
|
NM_000535.7(PMS2):c.2246A>G (p.Asn749Ser)
|
|
|
NM_000535.7(PMS2):c.2246A>T (p.Asn749Ile)
|
|
|
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys)
|
rs200824831
|
|
NM_000535.7(PMS2):c.2247T>G (p.Asn749Lys)
|
|
|
NM_000535.7(PMS2):c.2248G>T (p.Gly750Cys)
|
|
|
NM_000535.7(PMS2):c.2250C>T (p.Gly750=)
|
rs1199360335
|
|
NM_000535.7(PMS2):c.2251T>A (p.Phe751Ile)
|
|
|
NM_000535.7(PMS2):c.2253_2254inv (p.Asp752Asn)
|
|
|
NM_000535.7(PMS2):c.2254G>A (p.Asp752Asn)
|
|
|
NM_000535.7(PMS2):c.2254G>T (p.Asp752Tyr)
|
|
|
NM_000535.7(PMS2):c.2255A>T (p.Asp752Val)
|
|
|
NM_000535.7(PMS2):c.2258T>C (p.Phe753Ser)
|
|
|
NM_000535.7(PMS2):c.2259T>C (p.Phe753=)
|
rs2128682198
|
|
NM_000535.7(PMS2):c.2259del (p.Phe753fs)
|
|
|
NM_000535.7(PMS2):c.2259dup (p.Val754fs)
|
|
|
NM_000535.7(PMS2):c.2260G>A (p.Val754Ile)
|
rs876658822
|
|
NM_000535.7(PMS2):c.2260G>T (p.Val754Phe)
|
|
|
NM_000535.7(PMS2):c.2261T>C (p.Val754Ala)
|
|
|
NM_000535.7(PMS2):c.2262T>C (p.Val754=)
|
rs1583285456
|
|
NM_000535.7(PMS2):c.2265C>A (p.Ile755=)
|
rs145646046
|
|
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn)
|
rs762206330
|
|
NM_000535.7(PMS2):c.2267A>T (p.Asp756Val)
|
rs1554294409
|
|
NM_000535.7(PMS2):c.2269G>T (p.Glu757Ter)
|
rs1583285344
|
|
NM_000535.7(PMS2):c.226GAA[2] (p.Glu78del)
|
rs386833411
|
|
NM_000535.7(PMS2):c.2270A>C (p.Glu757Ala)
|
rs1554294402
|
|
NM_000535.7(PMS2):c.2270A>G (p.Glu757Gly)
|
|
|
NM_000535.7(PMS2):c.2271A>C (p.Glu757Asp)
|
|
|
NM_000535.7(PMS2):c.2273A>T (p.Asn758Ile)
|
|
|
NM_000535.7(PMS2):c.2273del (p.Asn758fs)
|
|
|
NM_000535.7(PMS2):c.2274T>C (p.Asn758=)
|
rs1554294398
|
|
NM_000535.7(PMS2):c.2275+12_2275+15del
|
rs758812244
|
|
NM_000535.7(PMS2):c.2275+1G>A
|
rs1554294393
|
|
NM_000535.7(PMS2):c.2275+1G>C
|
rs1554294393
|
|
NM_000535.7(PMS2):c.2275+2T>C
|
rs1562604682
|
|
NM_000535.7(PMS2):c.2275+3A>G
|
|
|
NM_000535.7(PMS2):c.2275G>T (p.Ala759Ser)
|
rs1554294396
|
|
NM_000535.7(PMS2):c.2276-3T>C
|
rs1583281760
|
|
NM_000535.7(PMS2):c.2276-3del
|
rs587782116
|
|
NM_000535.7(PMS2):c.2276C>A (p.Ala759Asp)
|
rs1219434769
|
|
NM_000535.7(PMS2):c.2276C>T (p.Ala759Val)
|
rs1219434769
|
|
NM_000535.7(PMS2):c.2278C>T (p.Pro760Ser)
|
rs763468927
|
|
NM_000535.7(PMS2):c.2279C>A (p.Pro760Gln)
|
|
|
NM_000535.7(PMS2):c.2279C>T (p.Pro760Leu)
|
|
|
NM_000535.7(PMS2):c.227A>G (p.Glu76Gly)
|
|
|
NM_000535.7(PMS2):c.227A>T (p.Glu76Val)
|
|
|
NM_000535.7(PMS2):c.2280A>G (p.Pro760=)
|
rs1781857172
|
|
NM_000535.7(PMS2):c.2281G>A (p.Val761Ile)
|
rs201914670
|
|
NM_000535.7(PMS2):c.2281_2284del (p.Val761fs)
|
|
|
NM_000535.7(PMS2):c.2281del (p.Val761fs)
|
|
|
NM_000535.7(PMS2):c.2282T>C (p.Val761Ala)
|
|
|
NM_000535.7(PMS2):c.2283C>T (p.Val761=)
|
rs1554294008
|
|
NM_000535.7(PMS2):c.2285C>G (p.Thr762Ser)
|
rs1583281632
|
|
NM_000535.7(PMS2):c.2286T>C (p.Thr762=)
|
|
|
NM_000535.7(PMS2):c.2289A>G (p.Glu763=)
|
rs786201442
|
|
NM_000535.7(PMS2):c.2290A>C (p.Arg764=)
|
rs1583281538
|
|
NM_000535.7(PMS2):c.2290A>G (p.Arg764Gly)
|
|
|
NM_000535.7(PMS2):c.2291G>T (p.Arg764Met)
|
|
|
NM_000535.7(PMS2):c.2292G>A (p.Arg764=)
|
|
|
NM_000535.7(PMS2):c.2292G>C (p.Arg764Ser)
|
|
|
NM_000535.7(PMS2):c.2294C>A (p.Ala765Asp)
|
|
|
NM_000535.7(PMS2):c.2294C>T (p.Ala765Val)
|
|
|
NM_000535.7(PMS2):c.2295T>C (p.Ala765=)
|
|
|
NM_000535.7(PMS2):c.2296A>T (p.Lys766Ter)
|
rs1554293991
|
|
NM_000535.7(PMS2):c.2297A>C (p.Lys766Thr)
|
|
|
NM_000535.7(PMS2):c.229G>C (p.Glu77Gln)
|
rs751235177
|
|
NM_000535.7(PMS2):c.23+10G>A
|
rs192027828
|
|
NM_000535.7(PMS2):c.23+19C>T
|
rs756178012
|
|
NM_000535.7(PMS2):c.23+1G>C
|
rs587782074
|
|
NM_000535.7(PMS2):c.23+22C>A
|
rs1281963213
|
|
NM_000535.7(PMS2):c.23+25G>T
|
|
|
NM_000535.7(PMS2):c.23+29C>T
|
rs372733983
|
|
NM_000535.7(PMS2):c.23+2T>A
|
|
|
NM_000535.7(PMS2):c.23+3G>C
|
rs1408475000
|
|
NM_000535.7(PMS2):c.23+4A>C
|
rs1583435174
|
|
NM_000535.7(PMS2):c.23+5G>A
|
|
|
NM_000535.7(PMS2):c.2300T>A (p.Leu767Gln)
|
|
|
NM_000535.7(PMS2):c.2300T>C (p.Leu767Pro)
|
rs1781853056
|
|
NM_000535.7(PMS2):c.2300T>G (p.Leu767Arg)
|
rs1781853056
|
|
NM_000535.7(PMS2):c.2301G>A (p.Leu767=)
|
rs1554293987
|
|
NM_000535.7(PMS2):c.2301G>C (p.Leu767=)
|
rs1554293987
|
|
NM_000535.7(PMS2):c.2303T>A (p.Ile768Asn)
|
rs1583281424
|
|
NM_000535.7(PMS2):c.2303T>C (p.Ile768Thr)
|
rs1583281424
|
|
NM_000535.7(PMS2):c.2303T>G (p.Ile768Ser)
|
|
|
NM_000535.7(PMS2):c.2304T>A (p.Ile768=)
|
|
|
NM_000535.7(PMS2):c.2305T>C (p.Ser769Pro)
|
|
|
NM_000535.7(PMS2):c.2306C>G (p.Ser769Cys)
|
|
|
NM_000535.7(PMS2):c.2306C>T (p.Ser769Phe)
|
rs1583281407
|
|
NM_000535.7(PMS2):c.2307C>G (p.Ser769=)
|
|
|
NM_000535.7(PMS2):c.2307C>T (p.Ser769=)
|
rs1583281386
|
|
NM_000535.7(PMS2):c.2308T>C (p.Leu770=)
|
|
|
NM_000535.7(PMS2):c.2310G>T (p.Leu770Phe)
|
rs1583281360
|
|
NM_000535.7(PMS2):c.2311C>G (p.Pro771Ala)
|
|
|
NM_000535.7(PMS2):c.2311C>T (p.Pro771Ser)
|
rs2128675272
|
|
NM_000535.7(PMS2):c.2312C>A (p.Pro771Gln)
|
|
|
NM_000535.7(PMS2):c.2312C>T (p.Pro771Leu)
|
rs759653526
|
|
NM_000535.7(PMS2):c.2313A>G (p.Pro771=)
|
|
|
NM_000535.7(PMS2):c.2313A>T (p.Pro771=)
|
|
|
NM_000535.7(PMS2):c.2317A>G (p.Ser773Gly)
|
rs587781489
|
|
NM_000535.7(PMS2):c.2318G>A (p.Ser773Asn)
|
rs2128675070
|
|
NM_000535.7(PMS2):c.2318G>C (p.Ser773Thr)
|
|
|
NM_000535.7(PMS2):c.2319T>C (p.Ser773=)
|
rs1298578676
|
|
NM_000535.7(PMS2):c.2319dup (p.Lys774Ter)
|
rs1554293975
|
|
NM_000535.7(PMS2):c.2320A>C (p.Lys774Gln)
|
|
|
NM_000535.7(PMS2):c.2320A>G (p.Lys774Glu)
|
|
|
NM_000535.7(PMS2):c.2324A>T (p.Asn775Ile)
|
rs17420802
|
|
NM_000535.7(PMS2):c.2324_2325delinsGA (p.Asn775Arg)
|
|
|
NM_000535.7(PMS2):c.2328G>T (p.Trp776Cys)
|
|
|
NM_000535.7(PMS2):c.232G>C (p.Glu78Gln)
|
rs1785414812
|
|
NM_000535.7(PMS2):c.232G>T (p.Glu78Ter)
|
|
|
NM_000535.7(PMS2):c.232_235del (p.Glu78fs)
|
rs1583410315
|
|
NM_000535.7(PMS2):c.2330C>G (p.Thr777Ser)
|
rs777728316
|
|
NM_000535.7(PMS2):c.2331C>A (p.Thr777=)
|
|
|
NM_000535.7(PMS2):c.2331C>T (p.Thr777=)
|
rs1583281105
|
|
NM_000535.7(PMS2):c.2338C>T (p.Pro780Ser)
|
rs1064796041
|
|
NM_000535.7(PMS2):c.2339C>A (p.Pro780His)
|
|
|
NM_000535.7(PMS2):c.2339C>G (p.Pro780Arg)
|
rs779971866
|
|
NM_000535.7(PMS2):c.2339C>T (p.Pro780Leu)
|
rs779971866
|
|
NM_000535.7(PMS2):c.233A>G (p.Glu78Gly)
|
rs2128829529
|
|
NM_000535.7(PMS2):c.2341C>A (p.Gln781Lys)
|
rs587780054
|
|
NM_000535.7(PMS2):c.2341C>G (p.Gln781Glu)
|
|
|
NM_000535.7(PMS2):c.2341C>T (p.Gln781Ter)
|
rs587780054
|
|
NM_000535.7(PMS2):c.2341dup (p.Gln781fs)
|
rs2128674468
|
|
NM_000535.7(PMS2):c.2343G>A (p.Gln781=)
|
rs786202531
|
|
NM_000535.7(PMS2):c.2344G>A (p.Asp782Asn)
|
|
|
NM_000535.7(PMS2):c.2345_2347del (p.Asp782del)
|
rs1554293941
|
|
NM_000535.7(PMS2):c.2348T>A (p.Val783Asp)
|
|
|
NM_000535.7(PMS2):c.2349C>G (p.Val783=)
|
rs751036491
|
|
NM_000535.7(PMS2):c.2350G>C (p.Asp784His)
|
|
|
NM_000535.7(PMS2):c.2352T>C (p.Asp784=)
|
|
|
NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter)
|
rs1554293920
|
|
NM_000535.7(PMS2):c.2353_2360del (p.Glu785fs)
|
|
|
NM_000535.7(PMS2):c.2355A>G (p.Glu785=)
|
rs1419416825
|
|
NM_000535.7(PMS2):c.2356C>T (p.Leu786=)
|
rs576055272
|
|
NM_000535.7(PMS2):c.2357_2373del (p.Leu786fs)
|
|
|
NM_000535.7(PMS2):c.2358G>A (p.Leu786=)
|
rs535056715
|
|
NM_000535.7(PMS2):c.2359A>G (p.Ile787Val)
|
rs191300933
|
|
NM_000535.7(PMS2):c.235A>G (p.Asn79Asp)
|
|
|
NM_000535.7(PMS2):c.2360T>C (p.Ile787Thr)
|
|
|
NM_000535.7(PMS2):c.2361C>A (p.Ile787=)
|
|
|
NM_000535.7(PMS2):c.2361C>G (p.Ile787Met)
|
rs1064794923
|
|
NM_000535.7(PMS2):c.2361C>T (p.Ile787=)
|
|
|
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)
|
rs267608160
|
|
NM_000535.7(PMS2):c.2362T>C (p.Phe788Leu)
|
rs876658480
|
|
NM_000535.7(PMS2):c.2362T>G (p.Phe788Val)
|
rs876658480
|
|
NM_000535.7(PMS2):c.2363T>C (p.Phe788Ser)
|
rs1554293904
|
|
NM_000535.7(PMS2):c.2364C>T (p.Phe788=)
|
rs2128673667
|
|
NM_000535.7(PMS2):c.2365A>G (p.Met789Val)
|
rs377259633
|
|
NM_000535.7(PMS2):c.2366T>C (p.Met789Thr)
|
|
|
NM_000535.7(PMS2):c.2366T>G (p.Met789Arg)
|
|
|
NM_000535.7(PMS2):c.2367G>A (p.Met789Ile)
|
rs766565506
|
|
NM_000535.7(PMS2):c.2367G>C (p.Met789Ile)
|
|
|
NM_000535.7(PMS2):c.2368C>T (p.Leu790=)
|
rs1583280484
|
|
NM_000535.7(PMS2):c.2369T>C (p.Leu790Pro)
|
|
|
NM_000535.7(PMS2):c.2370G>A (p.Leu790=)
|
rs2128673512
|
|
NM_000535.7(PMS2):c.2372G>A (p.Ser791Asn)
|
rs2128673461
|
|
NM_000535.7(PMS2):c.2373C>G (p.Ser791Arg)
|
rs864622765
|
|
NM_000535.7(PMS2):c.2374G>C (p.Asp792His)
|
|
|
NM_000535.7(PMS2):c.2377A>C (p.Ser793Arg)
|
|
|
NM_000535.7(PMS2):c.2377A>G (p.Ser793Gly)
|
rs1781833468
|
|
NM_000535.7(PMS2):c.2378G>T (p.Ser793Ile)
|
|
|
NM_000535.7(PMS2):c.2379C>A (p.Ser793Arg)
|
rs1554293887
|
|
NM_000535.7(PMS2):c.2379C>T (p.Ser793=)
|
rs1554293887
|
|
NM_000535.7(PMS2):c.237C>T (p.Asn79=)
|
|
|
NM_000535.7(PMS2):c.2380C>G (p.Pro794Ala)
|
rs773393960
|
|
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser)
|
rs773393960
|
|
NM_000535.7(PMS2):c.2381C>A (p.Pro794His)
|
rs876659030
|
|
NM_000535.7(PMS2):c.2381C>G (p.Pro794Arg)
|
rs876659030
|
|
NM_000535.7(PMS2):c.2381C>T (p.Pro794Leu)
|
|
|
NM_000535.7(PMS2):c.2382T>C (p.Pro794=)
|
rs1057521269
|
|
NM_000535.7(PMS2):c.2383G>A (p.Gly795Arg)
|
rs1423733655
|
|
NM_000535.7(PMS2):c.2384G>A (p.Gly795Glu)
|
rs786203838
|
|
NM_000535.7(PMS2):c.2384G>T (p.Gly795Val)
|
|
|
NM_000535.7(PMS2):c.2385G>A (p.Gly795=)
|
rs372868520
|
|
NM_000535.7(PMS2):c.2385G>C (p.Gly795=)
|
rs372868520
|
|
NM_000535.7(PMS2):c.2385G>T (p.Gly795=)
|
rs372868520
|
|
NM_000535.7(PMS2):c.2385_2386dup (p.Val796fs)
|
|
|
NM_000535.7(PMS2):c.2386G>T (p.Val796Phe)
|
|
|
NM_000535.7(PMS2):c.2387T>C (p.Val796Ala)
|
|
|
NM_000535.7(PMS2):c.2388C>A (p.Val796=)
|
rs876660875
|
|
NM_000535.7(PMS2):c.2388C>T (p.Val796=)
|
rs876660875
|
|
NM_000535.7(PMS2):c.2389A>T (p.Met797Leu)
|
rs1433888137
|
|
NM_000535.7(PMS2):c.2390T>C (p.Met797Thr)
|
rs267608152
|
|
NM_000535.7(PMS2):c.2391G>A (p.Met797Ile)
|
rs1554293841
|
|
NM_000535.7(PMS2):c.2392T>C (p.Cys798Arg)
|
rs1554293839
|
|
NM_000535.7(PMS2):c.2393G>A (p.Cys798Tyr)
|
rs2128672830
|
|
NM_000535.7(PMS2):c.2394C>T (p.Cys798=)
|
rs1583280086
|
|
NM_000535.7(PMS2):c.2396G>T (p.Arg799Leu)
|
|
|
NM_000535.7(PMS2):c.2397G>A (p.Arg799=)
|
rs1554293832
|
|
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs)
|
rs2128672594
|
|
NM_000535.7(PMS2):c.2398C>G (p.Pro800Ala)
|
rs1489085045
|
|
NM_000535.7(PMS2):c.2398C>T (p.Pro800Ser)
|
|
|
NM_000535.7(PMS2):c.2399C>T (p.Pro800Leu)
|
rs200629542
|
|
NM_000535.7(PMS2):c.239T>G (p.Phe80Cys)
|
rs1064795697
|
|
NM_000535.7(PMS2):c.23G>A (p.Ser8Asn)
|
rs1352544158
|
|
NM_000535.7(PMS2):c.23G>C (p.Ser8Thr)
|
rs1352544158
|
|
NM_000535.7(PMS2):c.24-11G>C
|
|
|
NM_000535.7(PMS2):c.24-12_107delinsAAAT
|
rs1554306445
|
|
NM_000535.7(PMS2):c.24-1G>A
|
rs1785723689
|
|
NM_000535.7(PMS2):c.24-2A>G
|
rs1583419860
|
|
NM_000535.7(PMS2):c.24-4C>G
|
rs2345056
|
|
NM_000535.7(PMS2):c.24-4C>T
|
|
|
NM_000535.7(PMS2):c.2402C>T (p.Ser801Phe)
|
|
|
NM_000535.7(PMS2):c.2403C>T (p.Ser801=)
|
rs1554293820
|
|
NM_000535.7(PMS2):c.2404C>A (p.Arg802=)
|
rs63751466
|
|
NM_000535.7(PMS2):c.2404C>G (p.Arg802Gly)
|
|
|
NM_000535.7(PMS2):c.2406A>C (p.Arg802=)
|
|
|
NM_000535.7(PMS2):c.2407G>A (p.Val803Ile)
|
rs745614929
|
|
NM_000535.7(PMS2):c.2408T>C (p.Val803Ala)
|
|
|
NM_000535.7(PMS2):c.2409C>A (p.Val803=)
|
rs2128672300
|
|
NM_000535.7(PMS2):c.2409C>G (p.Val803=)
|
|
|
NM_000535.7(PMS2):c.240C>A (p.Phe80Leu)
|
rs143162541
|
|
NM_000535.7(PMS2):c.240C>G (p.Phe80Leu)
|
rs143162541
|
|
NM_000535.7(PMS2):c.240del (p.Phe80fs)
|
rs1554304957
|
|
NM_000535.7(PMS2):c.2411A>G (p.Lys804Arg)
|
|
|
NM_000535.7(PMS2):c.2412G>A (p.Lys804=)
|
rs547715146
|
|
NM_000535.7(PMS2):c.2412G>T (p.Lys804Asn)
|
|
|
NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter)
|
rs1554293810
|
|
NM_000535.7(PMS2):c.2416A>C (p.Met806Leu)
|
|
|
NM_000535.7(PMS2):c.2416A>G (p.Met806Val)
|
rs1554293792
|
|
NM_000535.7(PMS2):c.2416A>T (p.Met806Leu)
|
rs1554293792
|
|
NM_000535.7(PMS2):c.2418G>A (p.Met806Ile)
|
rs786203096
|
|
NM_000535.7(PMS2):c.2419T>C (p.Phe807Leu)
|
|
|
NM_000535.7(PMS2):c.241G>C (p.Glu81Gln)
|
rs730881919
|
|
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)
|
rs730881919
|
|
NM_000535.7(PMS2):c.2421del (p.Phe807fs)
|
|
|
NM_000535.7(PMS2):c.2423C>T (p.Ala808Val)
|
|
|
NM_000535.7(PMS2):c.2424C>A (p.Ala808=)
|
|
|
NM_000535.7(PMS2):c.2424C>T (p.Ala808=)
|
rs1583279664
|
|
NM_000535.7(PMS2):c.2426C>G (p.Ser809Cys)
|
|
|
NM_000535.7(PMS2):c.2426C>T (p.Ser809Phe)
|
rs1583279643
|
|
NM_000535.7(PMS2):c.2427C>T (p.Ser809=)
|
|
|
NM_000535.7(PMS2):c.2428A>G (p.Arg810Gly)
|
rs1781818536
|
|
NM_000535.7(PMS2):c.2429G>A (p.Arg810Lys)
|
rs535705597
|
|
NM_000535.7(PMS2):c.2429G>T (p.Arg810Ile)
|
|
|
NM_000535.7(PMS2):c.2430A>C (p.Arg810Ser)
|
|
|
NM_000535.7(PMS2):c.2430A>G (p.Arg810=)
|
|
|
NM_000535.7(PMS2):c.2432C>T (p.Ala811Val)
|
rs1387206284
|
|
NM_000535.7(PMS2):c.2433C>T (p.Ala811=)
|
rs1583279559
|
|
NM_000535.7(PMS2):c.2434_2437del (p.Cys812fs)
|
|
|
NM_000535.7(PMS2):c.2435G>A (p.Cys812Tyr)
|
rs876661116
|
|
NM_000535.7(PMS2):c.2435G>T (p.Cys812Phe)
|
rs876661116
|
|
NM_000535.7(PMS2):c.2436C>T (p.Cys812=)
|
rs1583279521
|
|
NM_000535.7(PMS2):c.2437C>G (p.Arg813Gly)
|
rs375968016
|
|
NM_000535.7(PMS2):c.2438G>A (p.Arg813Gln)
|
rs587782665
|
|
NM_000535.7(PMS2):c.2438_2442del (p.Arg813fs)
|
|
|
NM_000535.7(PMS2):c.2439G>A (p.Arg813=)
|
|
|
NM_000535.7(PMS2):c.2439del (p.Lys814fs)
|
|
|
NM_000535.7(PMS2):c.2442G>A (p.Lys814=)
|
rs1554293745
|
|
NM_000535.7(PMS2):c.2445+1G>A
|
rs876661113
|
|
NM_000535.7(PMS2):c.2445+1G>C
|
rs876661113
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
|
NM_000535.7(PMS2):c.2445+5G>C
|
rs1583279335
|
|
NM_000535.7(PMS2):c.2446-10T>G
|
|
|
NM_000535.7(PMS2):c.2446-15G>T
|
|
|
NM_000535.7(PMS2):c.2446-1G>A
|
rs774583397
|
|
NM_000535.7(PMS2):c.2446-1G>T
|
rs774583397
|
|
NM_000535.7(PMS2):c.2446-2A>G
|
rs886039709
|
|
NM_000535.7(PMS2):c.2446-5_2446-2del
|
rs876658344
|
|
NM_000535.7(PMS2):c.2446G>A (p.Val816Met)
|
|
|
NM_000535.7(PMS2):c.2446G>C (p.Val816Leu)
|
|
|
NM_000535.7(PMS2):c.2446G>T (p.Val816Leu)
|
rs876659479
|
|
NM_000535.7(PMS2):c.2448G>A (p.Val816=)
|
rs1583270439
|
|
NM_000535.7(PMS2):c.2448G>C (p.Val816=)
|
rs1583270439
|
|
NM_000535.7(PMS2):c.2448G>T (p.Val816=)
|
|
|
NM_000535.7(PMS2):c.2449_2452del (p.Met817fs)
|
|
|
NM_000535.7(PMS2):c.244G>T (p.Gly82Cys)
|
rs754191682
|
|
NM_000535.7(PMS2):c.2452A>G (p.Ile818Val)
|
|
|
NM_000535.7(PMS2):c.2456G>A (p.Gly819Glu)
|
|
|
NM_000535.7(PMS2):c.2457G>A (p.Gly819=)
|
|
|
NM_000535.7(PMS2):c.2457G>T (p.Gly819=)
|
rs786203315
|
|
NM_000535.7(PMS2):c.2459C>A (p.Thr820Asn)
|
rs1583270329
|
|
NM_000535.7(PMS2):c.245G>C (p.Gly82Ala)
|
|
|
NM_000535.7(PMS2):c.245G>T (p.Gly82Val)
|
|
|
NM_000535.7(PMS2):c.2461G>A (p.Ala821Thr)
|
|
|
NM_000535.7(PMS2):c.2461G>T (p.Ala821Ser)
|
|
|
NM_000535.7(PMS2):c.2462C>G (p.Ala821Gly)
|
rs2128658992
|
|
NM_000535.7(PMS2):c.2463T>C (p.Ala821=)
|
rs1583270315
|
|
NM_000535.7(PMS2):c.2464_2466delinsGTC (p.Leu822Val)
|
|
|
NM_000535.7(PMS2):c.2465T>C (p.Leu822Pro)
|
rs587781636
|
|
NM_000535.7(PMS2):c.2466T>G (p.Leu822=)
|
|
|
NM_000535.7(PMS2):c.2467A>T (p.Asn823Tyr)
|
|
|
NM_000535.7(PMS2):c.2469_2473del (p.Asn823fs)
|
rs2128658792
|
|
NM_000535.7(PMS2):c.2470A>G (p.Thr824Ala)
|
rs1583270215
|
|
NM_000535.7(PMS2):c.2471C>G (p.Thr824Arg)
|
rs1354323014
|
|
NM_000535.7(PMS2):c.2471del (p.Thr824fs)
|
rs1583270185
|
|
NM_000535.7(PMS2):c.2474G>A (p.Ser825Asn)
|
rs1562594318
|
|
NM_000535.7(PMS2):c.2475C>A (p.Ser825Arg)
|
|
|
NM_000535.7(PMS2):c.2475C>T (p.Ser825=)
|
rs776460258
|
|
NM_000535.7(PMS2):c.2476G>T (p.Glu826Ter)
|
|
|
NM_000535.7(PMS2):c.2478G>A (p.Glu826=)
|
rs1562594255
|
|
NM_000535.7(PMS2):c.2478G>C (p.Glu826Asp)
|
rs1562594255
|
|
NM_000535.7(PMS2):c.2479A>G (p.Met827Val)
|
rs876659537
|
|
NM_000535.7(PMS2):c.247_250dup (p.Thr84fs)
|
rs1554304940
|
|
NM_000535.7(PMS2):c.2480T>C (p.Met827Thr)
|
|
|
NM_000535.7(PMS2):c.2480T>G (p.Met827Arg)
|
|
|
NM_000535.7(PMS2):c.2481G>A (p.Met827Ile)
|
|
|
NM_000535.7(PMS2):c.2481GAA[1] (p.Lys829del)
|
rs1583269980
|
|
NM_000535.7(PMS2):c.2487A>G (p.Lys829=)
|
rs2128658551
|
|
NM_000535.7(PMS2):c.2488C>T (p.Leu830=)
|
rs2128658537
|
|
NM_000535.7(PMS2):c.2489T>C (p.Leu830Pro)
|
rs1781502574
|
|
NM_000535.7(PMS2):c.2490G>A (p.Leu830=)
|
rs1334620570
|
|
NM_000535.7(PMS2):c.2490G>C (p.Leu830=)
|
rs1334620570
|
|
NM_000535.7(PMS2):c.2491A>G (p.Ile831Val)
|
rs876661221
|
|
NM_000535.7(PMS2):c.2491A>T (p.Ile831Phe)
|
|
|
NM_000535.7(PMS2):c.2492T>A (p.Ile831Asn)
|
|
|
NM_000535.7(PMS2):c.2495C>T (p.Thr832Ile)
|
|
|
NM_000535.7(PMS2):c.2496C>A (p.Thr832=)
|
|
|
NM_000535.7(PMS2):c.2496C>T (p.Thr832=)
|
rs746653856
|
|
NM_000535.7(PMS2):c.2497C>G (p.His833Asp)
|
rs777470381
|
|
NM_000535.7(PMS2):c.2498A>G (p.His833Arg)
|
|
|
NM_000535.7(PMS2):c.2499C>G (p.His833Gln)
|
rs876659564
|
|
NM_000535.7(PMS2):c.2499C>T (p.His833=)
|
rs876659564
|
|
NM_000535.7(PMS2):c.24T>C (p.Ser8=)
|
rs1554306620
|
|
NM_000535.7(PMS2):c.250+12T>C
|
rs1057523757
|
|
NM_000535.7(PMS2):c.250+1G>C
|
|
|
NM_000535.7(PMS2):c.250+20T>C
|
rs1357781639
|
|
NM_000535.7(PMS2):c.250+2T>G
|
|
|
NM_000535.7(PMS2):c.250+4A>C
|
|
|
NM_000535.7(PMS2):c.250+4A>G
|
rs1554304934
|
|
NM_000535.7(PMS2):c.250+5G>A
|
rs1458809226
|
|
NM_000535.7(PMS2):c.250+5G>C
|
rs1458809226
|
|
NM_000535.7(PMS2):c.250+8G>A
|
rs1057520511
|
|
NM_000535.7(PMS2):c.2500A>C (p.Met834Leu)
|
rs1554292828
|
|
NM_000535.7(PMS2):c.2500A>G (p.Met834Val)
|
|
|
NM_000535.7(PMS2):c.2500A>T (p.Met834Leu)
|
rs1554292828
|
|
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)
|
rs587781626
|
|
NM_000535.7(PMS2):c.2502G>A (p.Met834Ile)
|
|
|
NM_000535.7(PMS2):c.2502G>C (p.Met834Ile)
|
rs1554292818
|
|
NM_000535.7(PMS2):c.2503G>A (p.Gly835Arg)
|
rs1583269709
|
|
NM_000535.7(PMS2):c.2503G>T (p.Gly835Trp)
|
|
|
NM_000535.7(PMS2):c.2504G>A (p.Gly835Glu)
|
rs1454373685
|
|
NM_000535.7(PMS2):c.2504G>C (p.Gly835Ala)
|
|
|
NM_000535.7(PMS2):c.2504G>T (p.Gly835Val)
|
|
|
NM_000535.7(PMS2):c.2505G>A (p.Gly835=)
|
rs1583269666
|
|
NM_000535.7(PMS2):c.2505G>T (p.Gly835=)
|
rs1583269666
|
|
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter)
|
rs786201039
|
|
NM_000535.7(PMS2):c.2506del (p.Glu836fs)
|
rs2128658092
|
|
NM_000535.7(PMS2):c.2508G>C (p.Glu836Asp)
|
|
|
NM_000535.7(PMS2):c.2509A>C (p.Met837Leu)
|
|
|
NM_000535.7(PMS2):c.2509A>T (p.Met837Leu)
|
rs1583269633
|
|
NM_000535.7(PMS2):c.250A>C (p.Thr84Pro)
|
rs1554304938
|
|
NM_000535.7(PMS2):c.251-11CT[2]
|
|
|
NM_000535.7(PMS2):c.251-18C>G
|
rs766811365
|
|
NM_000535.7(PMS2):c.251-19_251-16del
|
|
|
NM_000535.7(PMS2):c.251-1G>A
|
|
|
NM_000535.7(PMS2):c.251-1G>T
|
rs764171734
|
|
NM_000535.7(PMS2):c.251-2A>C
|
rs587779340
|
|
NM_000535.7(PMS2):c.251-3C>G
|
|
|
NM_000535.7(PMS2):c.251-3C>T
|
|
|
NM_000535.7(PMS2):c.251-6_251-3del
|
rs2128827769
|
|
NM_000535.7(PMS2):c.251-7C>G
|
rs1583409220
|
|
NM_000535.7(PMS2):c.2511G>A (p.Met837Ile)
|
rs1554292802
|
|
NM_000535.7(PMS2):c.2512G>A (p.Asp838Asn)
|
|
|
NM_000535.7(PMS2):c.2513A>C (p.Asp838Ala)
|
rs1029895711
|
|
NM_000535.7(PMS2):c.2515C>T (p.His839Tyr)
|
|
|
NM_000535.7(PMS2):c.2518C>T (p.Pro840Ser)
|
rs1562593877
|
|
NM_000535.7(PMS2):c.2519C>T (p.Pro840Leu)
|
rs1554292787
|
|
NM_000535.7(PMS2):c.251C>T (p.Thr84Ile)
|
|
|
NM_000535.7(PMS2):c.2520C>T (p.Pro840=)
|
rs1583269491
|
|
NM_000535.7(PMS2):c.2521T>C (p.Trp841Arg)
|
rs1781493914
|
|
NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter)
|
rs876661203
|
|
NM_000535.7(PMS2):c.2523G>C (p.Trp841Cys)
|
|
|
NM_000535.7(PMS2):c.2523G>T (p.Trp841Cys)
|
|
|
NM_000535.7(PMS2):c.2524A>T (p.Asn842Tyr)
|
|
|
NM_000535.7(PMS2):c.2525A>G (p.Asn842Ser)
|
|
|
NM_000535.7(PMS2):c.2526C>A (p.Asn842Lys)
|
rs755478893
|
|
NM_000535.7(PMS2):c.2527T>C (p.Cys843Arg)
|
rs1554292753
|
|
NM_000535.7(PMS2):c.2528G>T (p.Cys843Phe)
|
|
|
NM_000535.7(PMS2):c.2529T>G (p.Cys843Trp)
|
|
|
NM_000535.7(PMS2):c.252T>G (p.Thr84=)
|
|
|
NM_000535.7(PMS2):c.2531C>A (p.Pro844His)
|
rs587782787
|
|
NM_000535.7(PMS2):c.2531C>G (p.Pro844Arg)
|
rs587782787
|
|
NM_000535.7(PMS2):c.2531C>T (p.Pro844Leu)
|
|
|
NM_000535.7(PMS2):c.2532C>A (p.Pro844=)
|
|
|
NM_000535.7(PMS2):c.2532C>T (p.Pro844=)
|
rs1554292744
|
|
NM_000535.7(PMS2):c.2533C>T (p.His845Tyr)
|
|
|
NM_000535.7(PMS2):c.2533del (p.His845fs)
|
rs1064796500
|
|
NM_000535.7(PMS2):c.2534A>C (p.His845Pro)
|
rs1554292741
|
|
NM_000535.7(PMS2):c.2534A>G (p.His845Arg)
|
rs1554292741
|
|
NM_000535.7(PMS2):c.2534A>T (p.His845Leu)
|
rs1554292741
|
|
NM_000535.7(PMS2):c.2534del (p.His845fs)
|
|
|
NM_000535.7(PMS2):c.2535T>G (p.His845Gln)
|
|
|
NM_000535.7(PMS2):c.2536G>T (p.Gly846Ter)
|
rs1583269216
|
|
NM_000535.7(PMS2):c.2538A>G (p.Gly846=)
|
rs863224368
|
|
NM_000535.7(PMS2):c.253C>G (p.Leu85Val)
|
rs1554304801
|
|
NM_000535.7(PMS2):c.2540G>A (p.Arg847Lys)
|
rs1583269177
|
|
NM_000535.7(PMS2):c.2541G>C (p.Arg847Ser)
|
|
|
NM_000535.7(PMS2):c.2542C>T (p.Pro848Ser)
|
|
|
NM_000535.7(PMS2):c.2543C>T (p.Pro848Leu)
|
rs786201850
|
|
NM_000535.7(PMS2):c.2544A>G (p.Pro848=)
|
rs1583269135
|
|
NM_000535.7(PMS2):c.2546C>T (p.Thr849Ile)
|
rs876660627
|
|
NM_000535.7(PMS2):c.2547C>G (p.Thr849=)
|
rs876660072
|
|
NM_000535.7(PMS2):c.2547C>T (p.Thr849=)
|
|
|
NM_000535.7(PMS2):c.2549T>G (p.Met850Arg)
|
rs1781486223
|
|
NM_000535.7(PMS2):c.2552G>C (p.Arg851Thr)
|
rs2128657167
|
|
NM_000535.7(PMS2):c.2552_2553del (p.Arg851fs)
|
|
|
NM_000535.7(PMS2):c.2554C>A (p.His852Asn)
|
|
|
NM_000535.7(PMS2):c.2554C>T (p.His852Tyr)
|
rs754350493
|
|
NM_000535.7(PMS2):c.2555del (p.His852fs)
|
|
|
NM_000535.7(PMS2):c.2556C>G (p.His852Gln)
|
rs1583269042
|
|
NM_000535.7(PMS2):c.2556C>T (p.His852=)
|
rs1583269042
|
|
NM_000535.7(PMS2):c.2556_2557del (p.Ile853fs)
|
|
|
NM_000535.7(PMS2):c.2559C>A (p.Ile853=)
|
|
|
NM_000535.7(PMS2):c.2559C>T (p.Ile853=)
|
rs371673459
|
|
NM_000535.7(PMS2):c.2560G>C (p.Ala854Pro)
|
rs574371474
|
|
NM_000535.7(PMS2):c.2561C>A (p.Ala854Asp)
|
|
|
NM_000535.7(PMS2):c.2561C>T (p.Ala854Val)
|
rs1583268949
|
|
NM_000535.7(PMS2):c.2562C>T (p.Ala854=)
|
rs1060504841
|
|
NM_000535.7(PMS2):c.2565C>T (p.Asn855=)
|
rs864622494
|
|
NM_000535.7(PMS2):c.2566C>A (p.Leu856Met)
|
|
|
NM_000535.7(PMS2):c.2566C>T (p.Leu856=)
|
rs1421089696
|
|
NM_000535.7(PMS2):c.2569G>C (p.Gly857Arg)
|
rs750820328
|
|
NM_000535.7(PMS2):c.2569G>T (p.Gly857Cys)
|
|
|
NM_000535.7(PMS2):c.2571T>C (p.Gly857=)
|
|
|
NM_000535.7(PMS2):c.2572G>A (p.Val858Ile)
|
rs368036201
|
|
NM_000535.7(PMS2):c.2574C>A (p.Val858=)
|
|
|
NM_000535.7(PMS2):c.2575A>G (p.Ile859Val)
|
rs587780058
|
|
NM_000535.7(PMS2):c.2576T>C (p.Ile859Thr)
|
|
|
NM_000535.7(PMS2):c.2577T>G (p.Ile859Met)
|
|
|
NM_000535.7(PMS2):c.2579C>T (p.Ser860Phe)
|
|
|
NM_000535.7(PMS2):c.2586C>G (p.Asn862Lys)
|
rs1554292691
|
|
NM_000535.7(PMS2):c.2586C>T (p.Asn862=)
|
rs1554292691
|
|
NM_000535.7(PMS2):c.2587T>C (p.Ter863Arg)
|
|
|
NM_000535.7(PMS2):c.2587T>G (p.Ter863Gly)
|
rs1060503124
|
|
NM_000535.7(PMS2):c.260A>G (p.His87Arg)
|
rs1340959686
|
|
NM_000535.7(PMS2):c.261T>C (p.His87=)
|
|
|
NM_000535.7(PMS2):c.261_265del (p.His88fs)
|
|
|
NM_000535.7(PMS2):c.262C>G (p.His88Asp)
|
rs1243546223
|
|
NM_000535.7(PMS2):c.262C>T (p.His88Tyr)
|
|
|
NM_000535.7(PMS2):c.263A>G (p.His88Arg)
|
rs1554304774
|
|
NM_000535.7(PMS2):c.265A>G (p.Thr89Ala)
|
rs2128827539
|
|
NM_000535.7(PMS2):c.267A>C (p.Thr89=)
|
rs876659181
|
|
NM_000535.7(PMS2):c.267_268insGATA (p.Ser90fs)
|
|
|
NM_000535.7(PMS2):c.269C>G (p.Ser90Cys)
|
rs770678468
|
|
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)
|
rs1554304745
|
|
NM_000535.7(PMS2):c.26C>A (p.Thr9Lys)
|
|
|
NM_000535.7(PMS2):c.26C>T (p.Thr9Ile)
|
rs1210073386
|
|
NM_000535.7(PMS2):c.270T>G (p.Ser90=)
|
rs876660414
|
|
NM_000535.7(PMS2):c.270dup (p.Lys91Ter)
|
|
|
NM_000535.7(PMS2):c.272A>G (p.Lys91Arg)
|
rs1583408934
|
|
NM_000535.7(PMS2):c.272A>T (p.Lys91Met)
|
|
|
NM_000535.7(PMS2):c.274A>G (p.Ile92Val)
|
rs1333262869
|
|
NM_000535.7(PMS2):c.275T>G (p.Ile92Ser)
|
rs1554304738
|
|
NM_000535.7(PMS2):c.279A>G (p.Gln93=)
|
rs1554304728
|
|
NM_000535.7(PMS2):c.281A>T (p.Glu94Val)
|
rs746811649
|
|
NM_000535.7(PMS2):c.286G>A (p.Ala96Thr)
|
rs772740220
|
|
NM_000535.7(PMS2):c.287C>G (p.Ala96Gly)
|
|
|
NM_000535.7(PMS2):c.287C>T (p.Ala96Val)
|
rs1583408790
|
|
NM_000535.7(PMS2):c.289G>C (p.Asp97His)
|
rs1395998044
|
|
NM_000535.7(PMS2):c.28G>T (p.Glu10Ter)
|
|
|
NM_000535.7(PMS2):c.290A>T (p.Asp97Val)
|
|
|
NM_000535.7(PMS2):c.291C>A (p.Asp97Glu)
|
rs878854049
|
|
NM_000535.7(PMS2):c.292C>G (p.Leu98Val)
|
|
|
NM_000535.7(PMS2):c.292C>T (p.Leu98=)
|
rs1583408706
|
|
NM_000535.7(PMS2):c.296C>G (p.Thr99Ser)
|
rs786202835
|
|
NM_000535.7(PMS2):c.296C>T (p.Thr99Ile)
|
rs786202835
|
|
NM_000535.7(PMS2):c.297T>A (p.Thr99=)
|
rs1583408662
|
|
NM_000535.7(PMS2):c.297T>C (p.Thr99=)
|
|
|
NM_000535.7(PMS2):c.299A>G (p.Gln100Arg)
|
rs747771951
|
|
NM_000535.7(PMS2):c.299A>T (p.Gln100Leu)
|
rs747771951
|
|
NM_000535.7(PMS2):c.29A>T (p.Glu10Val)
|
rs878854050
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
NM_000535.7(PMS2):c.2T>G (p.Met1Arg)
|
rs587780059
|
|
NM_000535.7(PMS2):c.300G>A (p.Gln100=)
|
rs1064794102
|
|
NM_000535.7(PMS2):c.300G>C (p.Gln100His)
|
rs1064794102
|
|
NM_000535.7(PMS2):c.300G>T (p.Gln100His)
|
|
|
NM_000535.7(PMS2):c.301G>A (p.Val101Ile)
|
|
|
NM_000535.7(PMS2):c.303T>G (p.Val101=)
|
|
|
NM_000535.7(PMS2):c.304G>T (p.Glu102Ter)
|
|
|
NM_000535.7(PMS2):c.308C>A (p.Thr103Asn)
|
|
|
NM_000535.7(PMS2):c.308C>T (p.Thr103Ile)
|
rs1562693788
|
|
NM_000535.7(PMS2):c.309T>G (p.Thr103=)
|
rs786202834
|
|
NM_000535.7(PMS2):c.30A>G (p.Glu10=)
|
rs876660608
|
|
NM_000535.7(PMS2):c.311T>C (p.Phe104Ser)
|
rs876660295
|
|
NM_000535.7(PMS2):c.312T>C (p.Phe104=)
|
rs778519215
|
|
NM_000535.7(PMS2):c.313G>C (p.Gly105Arg)
|
rs1554304666
|
|
NM_000535.7(PMS2):c.313G>T (p.Gly105Cys)
|
rs1554304666
|
|
NM_000535.7(PMS2):c.314G>A (p.Gly105Asp)
|
rs876659413
|
|
NM_000535.7(PMS2):c.315C>A (p.Gly105=)
|
|
|
NM_000535.7(PMS2):c.315C>T (p.Gly105=)
|
rs1472855482
|
|
NM_000535.7(PMS2):c.319del (p.Arg107fs)
|
|
|
NM_000535.7(PMS2):c.31C>G (p.Pro11Ala)
|
rs1554306608
|
|
NM_000535.7(PMS2):c.320G>C (p.Arg107Pro)
|
rs63751284
|
|
NM_000535.7(PMS2):c.320_321insT (p.Glu109fs)
|
|
|
NM_000535.7(PMS2):c.321G>A (p.Arg107=)
|
rs756420858
|
|
NM_000535.7(PMS2):c.321G>C (p.Arg107=)
|
rs756420858
|
|
NM_000535.7(PMS2):c.321G>T (p.Arg107=)
|
rs756420858
|
|
NM_000535.7(PMS2):c.322G>A (p.Gly108Arg)
|
|
|
NM_000535.7(PMS2):c.322G>T (p.Gly108Trp)
|
rs750866397
|
|
NM_000535.7(PMS2):c.323G>A (p.Gly108Glu)
|
|
|
NM_000535.7(PMS2):c.323G>C (p.Gly108Ala)
|
rs1785369293
|
|
NM_000535.7(PMS2):c.323G>T (p.Gly108Val)
|
rs1785369293
|
|
NM_000535.7(PMS2):c.324G>A (p.Gly108=)
|
rs1057522330
|
|
NM_000535.7(PMS2):c.324_325del (p.Glu109fs)
|
|
|
NM_000535.7(PMS2):c.325G>A (p.Glu109Lys)
|
rs63749862
|
|
NM_000535.7(PMS2):c.325G>T (p.Glu109Ter)
|
rs63749862
|
|
NM_000535.7(PMS2):c.325del (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.325dup (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.326A>G (p.Glu109Gly)
|
rs1785367984
|
|
NM_000535.7(PMS2):c.326A>T (p.Glu109Val)
|
|
|
NM_000535.7(PMS2):c.327del (p.Ala110fs)
|
|
|
NM_000535.7(PMS2):c.329C>T (p.Ala110Val)
|
|
|
NM_000535.7(PMS2):c.331C>A (p.Leu111Met)
|
|
|
NM_000535.7(PMS2):c.331C>G (p.Leu111Val)
|
rs864622232
|
|
NM_000535.7(PMS2):c.332T>A (p.Leu111Gln)
|
rs1554304623
|
|
NM_000535.7(PMS2):c.332T>C (p.Leu111Pro)
|
rs1554304623
|
|
NM_000535.7(PMS2):c.334A>G (p.Ser112Gly)
|
rs1254565992
|
|
NM_000535.7(PMS2):c.335G>A (p.Ser112Asn)
|
|
|
NM_000535.7(PMS2):c.335G>T (p.Ser112Ile)
|
|
|
NM_000535.7(PMS2):c.336C>A (p.Ser112Arg)
|
|
|
NM_000535.7(PMS2):c.336C>T (p.Ser112=)
|
rs1583408255
|
|
NM_000535.7(PMS2):c.338C>G (p.Ser113Ter)
|
|
|
NM_000535.7(PMS2):c.338C>T (p.Ser113Leu)
|
rs1785365441
|
|
NM_000535.7(PMS2):c.33T>C (p.Pro11=)
|
rs780178572
|
|
NM_000535.7(PMS2):c.33del (p.Ala12fs)
|
rs1554306605
|
|
NM_000535.7(PMS2):c.343del (p.Cys115fs)
|
|
|
NM_000535.7(PMS2):c.344G>A (p.Cys115Tyr)
|
|
|
NM_000535.7(PMS2):c.347C>T (p.Ala116Val)
|
rs1554304601
|
|
NM_000535.7(PMS2):c.348A>C (p.Ala116=)
|
rs763057312
|
|
NM_000535.7(PMS2):c.348A>G (p.Ala116=)
|
rs763057312
|
|
NM_000535.7(PMS2):c.349C>T (p.Leu117=)
|
rs1554304592
|
|
NM_000535.7(PMS2):c.350T>C (p.Leu117Pro)
|
rs1785362083
|
|
NM_000535.7(PMS2):c.351G>A (p.Leu117=)
|
rs1583408121
|
|
NM_000535.7(PMS2):c.351del (p.Ser118fs)
|
|
|
NM_000535.7(PMS2):c.352A>G (p.Ser118Gly)
|
|
|
NM_000535.7(PMS2):c.353+10T>C
|
rs1554304568
|
|
NM_000535.7(PMS2):c.353+19C>G
|
rs1189029006
|
|
NM_000535.7(PMS2):c.353+1G>A
|
rs113517055
|
|
NM_000535.7(PMS2):c.353+20C>T
|
rs1440302333
|
|
NM_000535.7(PMS2):c.353+2T>C
|
rs111466480
|
|
NM_000535.7(PMS2):c.353+4A>C
|
rs760538709
|
|
NM_000535.7(PMS2):c.353+5T>C
|
rs1583408041
|
|
NM_000535.7(PMS2):c.353+6dup
|
rs1562693353
|
|
NM_000535.7(PMS2):c.353+7C>T
|
rs1057520512
|
|
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn)
|
rs1394474494
|
|
NM_000535.7(PMS2):c.354-12A>G
|
rs1554304135
|
|
NM_000535.7(PMS2):c.354-14G>T
|
rs1785236527
|
|
NM_000535.7(PMS2):c.354-15G>T
|
rs1250216615
|
|
NM_000535.7(PMS2):c.354-17C>G
|
|
|
NM_000535.7(PMS2):c.354-18_354-15dup
|
rs1785237115
|
|
NM_000535.7(PMS2):c.354-1G>A
|
rs786203954
|
|
NM_000535.7(PMS2):c.354-2A>G
|
rs786202098
|
|
NM_000535.7(PMS2):c.354-3C>G
|
rs587782632
|
|
NM_000535.7(PMS2):c.354-3C>T
|
rs587782632
|
|
NM_000535.7(PMS2):c.354-4A>G
|
|
|
NM_000535.7(PMS2):c.354-5C>T
|
rs200591010
|
|
NM_000535.7(PMS2):c.354C>A (p.Ser118Arg)
|
rs760615315
|
|
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr)
|
rs587781913
|
|
NM_000535.7(PMS2):c.359T>C (p.Val120Ala)
|
rs1060503139
|
|
NM_000535.7(PMS2):c.360C>T (p.Val120=)
|
rs767313783
|
|
NM_000535.7(PMS2):c.363C>T (p.Thr121=)
|
|
|
NM_000535.7(PMS2):c.364A>G (p.Ile122Val)
|
rs761748894
|
|
NM_000535.7(PMS2):c.366T>C (p.Ile122=)
|
rs2128819275
|
|
NM_000535.7(PMS2):c.36T>C (p.Ala12=)
|
|
|
NM_000535.7(PMS2):c.370A>G (p.Thr124Ala)
|
rs1554304105
|
|
NM_000535.7(PMS2):c.371C>A (p.Thr124Asn)
|
rs1034709810
|
|
NM_000535.7(PMS2):c.375C>T (p.Cys125=)
|
rs1562690527
|
|
NM_000535.7(PMS2):c.376C>G (p.His126Asp)
|
rs774135207
|
|
NM_000535.7(PMS2):c.376C>T (p.His126Tyr)
|
rs774135207
|
|
NM_000535.7(PMS2):c.378C>G (p.His126Gln)
|
rs768488890
|
|
NM_000535.7(PMS2):c.379G>T (p.Ala127Ser)
|
|
|
NM_000535.7(PMS2):c.380C>G (p.Ala127Gly)
|
|
|
NM_000535.7(PMS2):c.381A>C (p.Ala127=)
|
rs1060504835
|
|
NM_000535.7(PMS2):c.382T>C (p.Ser128Pro)
|
rs1562690462
|
|
NM_000535.7(PMS2):c.383C>A (p.Ser128Ter)
|
rs116373169
|
|
NM_000535.7(PMS2):c.383del (p.Ser128fs)
|
|
|
NM_000535.7(PMS2):c.384G>C (p.Ser128=)
|
rs371342884
|
|
NM_000535.7(PMS2):c.384G>T (p.Ser128=)
|
rs371342884
|
|
NM_000535.7(PMS2):c.385G>A (p.Ala129Thr)
|
rs1785227712
|
|
NM_000535.7(PMS2):c.386C>A (p.Ala129Glu)
|
|
|
NM_000535.7(PMS2):c.386C>G (p.Ala129Gly)
|
|
|
NM_000535.7(PMS2):c.387G>A (p.Ala129=)
|
rs876658275
|
|
NM_000535.7(PMS2):c.388_390delinsTGTAATTCCAGCCCAAAGTGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCT (p.Lys130delinsCysAsnSerSerProLysCysLeuTer)
|
|
|
NM_000535.7(PMS2):c.38A>C (p.Lys13Thr)
|
rs1785719173
|
|
NM_000535.7(PMS2):c.390G>A (p.Lys130=)
|
|
|
NM_000535.7(PMS2):c.391G>A (p.Val131Ile)
|
|
|
NM_000535.7(PMS2):c.391G>T (p.Val131Phe)
|
rs1583403963
|
|
NM_000535.7(PMS2):c.393T>G (p.Val131=)
|
|
|
NM_000535.7(PMS2):c.394G>A (p.Gly132Arg)
|
|
|
NM_000535.7(PMS2):c.395G>A (p.Gly132Glu)
|
rs1583403941
|
|
NM_000535.7(PMS2):c.395G>C (p.Gly132Ala)
|
rs1583403941
|
|
NM_000535.7(PMS2):c.396A>C (p.Gly132=)
|
rs786201073
|
|
NM_000535.7(PMS2):c.396A>G (p.Gly132=)
|
rs786201073
|
|
NM_000535.7(PMS2):c.398C>A (p.Thr133Asn)
|
rs1064794097
|
|
NM_000535.7(PMS2):c.398C>T (p.Thr133Ile)
|
rs1064794097
|
|
NM_000535.7(PMS2):c.39G>A (p.Lys13=)
|
rs2128846889
|
|
NM_000535.7(PMS2):c.3G>A (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.3_13dup (p.Glu5fs)
|
|
|
NM_000535.7(PMS2):c.401G>A (p.Arg134Gln)
|
rs771300829
|
|
NM_000535.7(PMS2):c.401G>C (p.Arg134Pro)
|
|
|
NM_000535.7(PMS2):c.403C>T (p.Leu135=)
|
rs876658423
|
|
NM_000535.7(PMS2):c.404T>C (p.Leu135Pro)
|
rs2128818545
|
|
NM_000535.7(PMS2):c.404T>G (p.Leu135Arg)
|
|
|
NM_000535.7(PMS2):c.406A>C (p.Met136Leu)
|
rs35690297
|
|
NM_000535.7(PMS2):c.406A>G (p.Met136Val)
|
|
|
NM_000535.7(PMS2):c.406A>T (p.Met136Leu)
|
rs35690297
|
|
NM_000535.7(PMS2):c.409T>G (p.Phe137Val)
|
rs1060503141
|
|
NM_000535.7(PMS2):c.40G>A (p.Ala14Thr)
|
|
|
NM_000535.7(PMS2):c.40G>T (p.Ala14Ser)
|
rs876661039
|
|
NM_000535.7(PMS2):c.414T>C (p.Asp138=)
|
rs1785221660
|
|
NM_000535.7(PMS2):c.415C>G (p.His139Asp)
|
|
|
NM_000535.7(PMS2):c.415C>T (p.His139Tyr)
|
rs1554304032
|
|
NM_000535.7(PMS2):c.416A>G (p.His139Arg)
|
rs876658142
|
|
NM_000535.7(PMS2):c.417C>A (p.His139Gln)
|
rs876659919
|
|
NM_000535.7(PMS2):c.417C>T (p.His139=)
|
rs876659919
|
|
NM_000535.7(PMS2):c.419A>G (p.Asn140Ser)
|
rs876661103
|
|
NM_000535.7(PMS2):c.41C>G (p.Ala14Gly)
|
rs750524554
|
|
NM_000535.7(PMS2):c.41C>T (p.Ala14Val)
|
rs750524554
|
|
NM_000535.7(PMS2):c.422G>T (p.Gly141Val)
|
|
|
NM_000535.7(PMS2):c.423G>C (p.Gly141=)
|
rs1583403657
|
|
NM_000535.7(PMS2):c.423del (p.Ile143fs)
|
|
|
NM_000535.7(PMS2):c.428T>C (p.Ile143Thr)
|
rs1562690040
|
|
NM_000535.7(PMS2):c.429del (p.Ile144fs)
|
|
|
NM_000535.7(PMS2):c.430A>G (p.Ile144Val)
|
rs876659055
|
|
NM_000535.7(PMS2):c.430A>T (p.Ile144Phe)
|
rs876659055
|
|
NM_000535.7(PMS2):c.432C>G (p.Ile144Met)
|
|
|
NM_000535.7(PMS2):c.433C>T (p.Gln145Ter)
|
|
|
NM_000535.7(PMS2):c.438A>C (p.Lys146Asn)
|
rs1396558771
|
|
NM_000535.7(PMS2):c.439A>G (p.Thr147Ala)
|
rs1583403496
|
|
NM_000535.7(PMS2):c.439del (p.Thr147fs)
|
|
|
NM_000535.7(PMS2):c.43A>C (p.Ile15Leu)
|
|
|
NM_000535.7(PMS2):c.43A>G (p.Ile15Val)
|
rs878854051
|
|
NM_000535.7(PMS2):c.440C>A (p.Thr147Asn)
|
rs1554304012
|
|
NM_000535.7(PMS2):c.440C>G (p.Thr147Ser)
|
|
|
NM_000535.7(PMS2):c.440C>T (p.Thr147Ile)
|
|
|
NM_000535.7(PMS2):c.441C>T (p.Thr147=)
|
rs1583403457
|
|
NM_000535.7(PMS2):c.442C>G (p.Pro148Ala)
|
rs1554304009
|
|
NM_000535.7(PMS2):c.442C>T (p.Pro148Ser)
|
rs1554304009
|
|
NM_000535.7(PMS2):c.444C>A (p.Pro148=)
|
rs1583403410
|
|
NM_000535.7(PMS2):c.444C>G (p.Pro148=)
|
rs1583403410
|
|
NM_000535.7(PMS2):c.444C>T (p.Pro148=)
|
|
|
NM_000535.7(PMS2):c.444del (p.Tyr149fs)
|
|
|
NM_000535.7(PMS2):c.445T>A (p.Tyr149Asn)
|
rs890029950
|
|
NM_000535.7(PMS2):c.445T>G (p.Tyr149Asp)
|
|
|
NM_000535.7(PMS2):c.445del (p.Tyr149fs)
|
rs769742496
|
|
NM_000535.7(PMS2):c.446A>C (p.Tyr149Ser)
|
rs1554304003
|
|
NM_000535.7(PMS2):c.447C>A (p.Tyr149Ter)
|
rs1224505288
|
|
NM_000535.7(PMS2):c.447C>T (p.Tyr149=)
|
rs1224505288
|
|
NM_000535.7(PMS2):c.448C>T (p.Pro150Ser)
|
rs1060503120
|
|
NM_000535.7(PMS2):c.450C>A (p.Pro150=)
|
rs1554303987
|
|
NM_000535.7(PMS2):c.450C>T (p.Pro150=)
|
rs1554303987
|
|
NM_000535.7(PMS2):c.451C>A (p.Arg151Ser)
|
|
|
NM_000535.7(PMS2):c.451C>G (p.Arg151Gly)
|
rs758561884
|
|
NM_000535.7(PMS2):c.451del (p.Arg151fs)
|
rs1562689635
|
|
NM_000535.7(PMS2):c.451dup (p.Arg151fs)
|
rs1562689635
|
|
NM_000535.7(PMS2):c.452G>C (p.Arg151Pro)
|
rs35629870
|
|
NM_000535.7(PMS2):c.452_457delinsCCCCG (p.Arg151fs)
|
rs1583403114
|
|
NM_000535.7(PMS2):c.452delinsCA (p.Arg151fs)
|
|
|
NM_000535.7(PMS2):c.453C>G (p.Arg151=)
|
|
|
NM_000535.7(PMS2):c.453C>T (p.Arg151=)
|
rs1583403159
|
|
NM_000535.7(PMS2):c.456C>T (p.Pro152=)
|
rs1057522031
|
|
NM_000535.7(PMS2):c.457A>C (p.Arg153=)
|
|
|
NM_000535.7(PMS2):c.457del (p.Arg153fs)
|
rs1785207289
|
|
NM_000535.7(PMS2):c.460G>A (p.Gly154Arg)
|
rs1583403079
|
|
NM_000535.7(PMS2):c.460G>C (p.Gly154Arg)
|
|
|
NM_000535.7(PMS2):c.464C>T (p.Thr155Ile)
|
rs2128817131
|
|
NM_000535.7(PMS2):c.465C>A (p.Thr155=)
|
rs863224369
|
|
NM_000535.7(PMS2):c.465C>G (p.Thr155=)
|
rs863224369
|
|
NM_000535.7(PMS2):c.465C>T (p.Thr155=)
|
|
|
NM_000535.7(PMS2):c.466A>C (p.Thr156Pro)
|
rs786204206
|
|
NM_000535.7(PMS2):c.467C>A (p.Thr156Lys)
|
rs1554303953
|
|
NM_000535.7(PMS2):c.467C>T (p.Thr156Ile)
|
rs1554303953
|
|
NM_000535.7(PMS2):c.468A>T (p.Thr156=)
|
rs1364918195
|
|
NM_000535.7(PMS2):c.469G>A (p.Val157Ile)
|
rs1554303946
|
|
NM_000535.7(PMS2):c.469G>C (p.Val157Leu)
|
rs1554303946
|
|
NM_000535.7(PMS2):c.469G>T (p.Val157Phe)
|
|
|
NM_000535.7(PMS2):c.472A>G (p.Ser158Gly)
|
rs1554303942
|
|
NM_000535.7(PMS2):c.472A>T (p.Ser158Cys)
|
rs1554303942
|
|
NM_000535.7(PMS2):c.473G>A (p.Ser158Asn)
|
rs750354871
|
|
NM_000535.7(PMS2):c.475G>T (p.Val159Leu)
|
rs142416537
|
|
NM_000535.7(PMS2):c.476T>C (p.Val159Ala)
|
|
|
NM_000535.7(PMS2):c.478C>T (p.Gln160Ter)
|
rs36038802
|
|
NM_000535.7(PMS2):c.479A>C (p.Gln160Pro)
|
rs1554303922
|
|
NM_000535.7(PMS2):c.47A>T (p.Lys16Ile)
|
|
|
NM_000535.7(PMS2):c.480G>T (p.Gln160His)
|
rs1426242773
|
|
NM_000535.7(PMS2):c.481C>G (p.Gln161Glu)
|
|
|
NM_000535.7(PMS2):c.482A>C (p.Gln161Pro)
|
rs1554303917
|
|
NM_000535.7(PMS2):c.482A>G (p.Gln161Arg)
|
rs1554303917
|
|
NM_000535.7(PMS2):c.483G>A (p.Gln161=)
|
rs1193294479
|
|
NM_000535.7(PMS2):c.484T>C (p.Leu162=)
|
rs1554303909
|
|
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)
|
rs1785199575
|
|
NM_000535.7(PMS2):c.486A>C (p.Leu162Phe)
|
rs1479722146
|
|
NM_000535.7(PMS2):c.486A>G (p.Leu162=)
|
|
|
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu)
|
rs587780060
|
|
NM_000535.7(PMS2):c.489T>C (p.Phe163=)
|
|
|
NM_000535.7(PMS2):c.491C>T (p.Ser164Phe)
|
|
|
NM_000535.7(PMS2):c.493A>G (p.Thr165Ala)
|
rs1554303902
|
|
NM_000535.7(PMS2):c.495A>G (p.Thr165=)
|
rs1057520513
|
|
NM_000535.7(PMS2):c.497T>A (p.Leu166Gln)
|
|
|
NM_000535.7(PMS2):c.498A>G (p.Leu166=)
|
rs2128816347
|
|
NM_000535.7(PMS2):c.4G>C (p.Glu2Gln)
|
rs1554309080
|
|
NM_000535.7(PMS2):c.4G>T (p.Glu2Ter)
|
rs1554309080
|
|
NM_000535.7(PMS2):c.500C>G (p.Pro167Arg)
|
rs1554303894
|
|
NM_000535.7(PMS2):c.500C>T (p.Pro167Leu)
|
rs1554303894
|
|
NM_000535.7(PMS2):c.504G>A (p.Val168=)
|
rs878854053
|
|
NM_000535.7(PMS2):c.505C>G (p.Arg169Gly)
|
|
|
NM_000535.7(PMS2):c.505C>T (p.Arg169Cys)
|
rs730881916
|
|
NM_000535.7(PMS2):c.507C>T (p.Arg169=)
|
rs1785194379
|
|
NM_000535.7(PMS2):c.508C>A (p.His170Asn)
|
rs876661152
|
|
NM_000535.7(PMS2):c.509A>C (p.His170Pro)
|
|
|
NM_000535.7(PMS2):c.509A>G (p.His170Arg)
|
rs1583402418
|
|
NM_000535.7(PMS2):c.50C>A (p.Pro17His)
|
rs1554306578
|
|
NM_000535.7(PMS2):c.50C>G (p.Pro17Arg)
|
|
|
NM_000535.7(PMS2):c.510del (p.His170fs)
|
rs1064793365
|
|
NM_000535.7(PMS2):c.511A>G (p.Lys171Glu)
|
|
|
NM_000535.7(PMS2):c.512del (p.Lys171fs)
|
|
|
NM_000535.7(PMS2):c.514G>A (p.Glu172Lys)
|
rs876660196
|
|
NM_000535.7(PMS2):c.514G>T (p.Glu172Ter)
|
|
|
NM_000535.7(PMS2):c.515A>T (p.Glu172Val)
|
|
|
NM_000535.7(PMS2):c.516A>T (p.Glu172Asp)
|
rs1785191843
|
|
NM_000535.7(PMS2):c.51T>C (p.Pro17=)
|
rs786201072
|
|
NM_000535.7(PMS2):c.51_55del (p.Ile18fs)
|
|
|
NM_000535.7(PMS2):c.51del (p.Ile18fs)
|
rs1785715961
|
|
NM_000535.7(PMS2):c.520C>G (p.Gln174Glu)
|
|
|
NM_000535.7(PMS2):c.522A>C (p.Gln174His)
|
rs1554303873
|
|
NM_000535.7(PMS2):c.524G>T (p.Arg175Met)
|
rs1562688735
|
|
NM_000535.7(PMS2):c.525G>A (p.Arg175=)
|
rs1554303870
|
|
NM_000535.7(PMS2):c.525G>C (p.Arg175Ser)
|
rs1554303870
|
|
NM_000535.7(PMS2):c.525G>T (p.Arg175Ser)
|
rs1554303870
|
|
NM_000535.7(PMS2):c.525_534del (p.Asn176fs)
|
rs1785187053
|
|
NM_000535.7(PMS2):c.526A>T (p.Asn176Tyr)
|
|
|
NM_000535.7(PMS2):c.527A>T (p.Asn176Ile)
|
rs1785189018
|
|
NM_000535.7(PMS2):c.531T>G (p.Ile177Met)
|
rs863224679
|
|
NM_000535.7(PMS2):c.533A>C (p.Lys178Thr)
|
rs1785187351
|
|
NM_000535.7(PMS2):c.533A>G (p.Lys178Arg)
|
|
|
NM_000535.7(PMS2):c.534del (p.Lys179fs)
|
|
|
NM_000535.7(PMS2):c.535A>T (p.Lys179Ter)
|
rs1554303861
|
|
NM_000535.7(PMS2):c.536A>T (p.Lys179Met)
|
|
|
NM_000535.7(PMS2):c.537+1G>A
|
rs863224450
|
|
NM_000535.7(PMS2):c.537+1del
|
rs1064793868
|
|
NM_000535.7(PMS2):c.537+2T>C
|
|
|
NM_000535.7(PMS2):c.537+3A>G
|
rs876659939
|
|
NM_000535.7(PMS2):c.537+4C>G
|
rs864622272
|
|
NM_000535.7(PMS2):c.537+5A>C
|
|
|
NM_000535.7(PMS2):c.537+5A>G
|
rs1562688519
|
|
NM_000535.7(PMS2):c.537+9A>T
|
rs759013264
|
|
NM_000535.7(PMS2):c.537G>A (p.Lys179=)
|
rs864622074
|
|
NM_000535.7(PMS2):c.538-12T>G
|
rs1554302551
|
|
NM_000535.7(PMS2):c.538-12dup
|
rs1455766004
|
|
NM_000535.7(PMS2):c.538-15G>C
|
rs1554302558
|
|
NM_000535.7(PMS2):c.538-18T>G
|
rs1554302567
|
|
NM_000535.7(PMS2):c.538-1G>A
|
rs988423880
|
|
NM_000535.7(PMS2):c.538-2A>C
|
rs758304323
|
|
NM_000535.7(PMS2):c.538-3C>G
|
rs1554302546
|
|
NM_000535.7(PMS2):c.538-5A>C
|
|
|
NM_000535.7(PMS2):c.538-6A>G
|
rs1784835616
|
|
NM_000535.7(PMS2):c.538-8T>C
|
rs922948916
|
|
NM_000535.7(PMS2):c.538G>A (p.Glu180Lys)
|
rs876660198
|
|
NM_000535.7(PMS2):c.538G>C (p.Glu180Gln)
|
rs876660198
|
|
NM_000535.7(PMS2):c.538G>T (p.Glu180Ter)
|
|
|
NM_000535.7(PMS2):c.539A>C (p.Glu180Ala)
|
rs1064793401
|
|
NM_000535.7(PMS2):c.540G>A (p.Glu180=)
|
rs1784832714
|
|
NM_000535.7(PMS2):c.540G>T (p.Glu180Asp)
|
|
|
NM_000535.7(PMS2):c.541T>C (p.Tyr181His)
|
rs863224680
|
|
NM_000535.7(PMS2):c.542A>G (p.Tyr181Cys)
|
rs863224681
|
|
NM_000535.7(PMS2):c.542A>T (p.Tyr181Phe)
|
rs863224681
|
|
NM_000535.7(PMS2):c.543T>C (p.Tyr181=)
|
rs1583387894
|
|
NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer)
|
rs63751029
|
|
NM_000535.7(PMS2):c.544G>A (p.Ala182Thr)
|
rs587779341
|
|
NM_000535.7(PMS2):c.545C>A (p.Ala182Asp)
|
rs1562679272
|
|
NM_000535.7(PMS2):c.545C>T (p.Ala182Val)
|
rs1562679272
|
|
NM_000535.7(PMS2):c.546C>T (p.Ala182=)
|
rs1554302537
|
|
NM_000535.7(PMS2):c.546del (p.Met184fs)
|
|
|
NM_000535.7(PMS2):c.548A>G (p.Lys183Arg)
|
|
|
NM_000535.7(PMS2):c.549A>C (p.Lys183Asn)
|
rs1784828441
|
|
NM_000535.7(PMS2):c.549A>G (p.Lys183=)
|
rs1784828441
|
|
NM_000535.7(PMS2):c.54T>C (p.Ile18=)
|
rs878854054
|
|
NM_000535.7(PMS2):c.550A>G (p.Met184Val)
|
rs1583387809
|
|
NM_000535.7(PMS2):c.551T>C (p.Met184Thr)
|
rs1583387794
|
|
NM_000535.7(PMS2):c.552G>A (p.Met184Ile)
|
rs764853641
|
|
NM_000535.7(PMS2):c.552G>T (p.Met184Ile)
|
rs764853641
|
|
NM_000535.7(PMS2):c.553G>A (p.Val185Ile)
|
rs1583387731
|
|
NM_000535.7(PMS2):c.554T>G (p.Val185Gly)
|
|
|
NM_000535.7(PMS2):c.555C>T (p.Val185=)
|
rs759078497
|
|
NM_000535.7(PMS2):c.556C>T (p.Gln186Ter)
|
|
|
NM_000535.7(PMS2):c.556del (p.Gln186fs)
|
|
|
NM_000535.7(PMS2):c.558G>A (p.Gln186=)
|
|
|
NM_000535.7(PMS2):c.558G>C (p.Gln186His)
|
rs769411134
|
|
NM_000535.7(PMS2):c.558G>T (p.Gln186His)
|
|
|
NM_000535.7(PMS2):c.55G>A (p.Asp19Asn)
|
|
|
NM_000535.7(PMS2):c.55G>C (p.Asp19His)
|
rs1554306568
|
|
NM_000535.7(PMS2):c.55G>T (p.Asp19Tyr)
|
rs1554306568
|
|
NM_000535.7(PMS2):c.561C>G (p.Val187=)
|
|
|
NM_000535.7(PMS2):c.565C>A (p.His189Asn)
|
rs1583387579
|
|
NM_000535.7(PMS2):c.566A>C (p.His189Pro)
|
rs876660330
|
|
NM_000535.7(PMS2):c.566A>G (p.His189Arg)
|
rs876660330
|
|
NM_000535.7(PMS2):c.566_567del (p.His189fs)
|
|
|
NM_000535.7(PMS2):c.567T>C (p.His189=)
|
rs876660433
|
|
NM_000535.7(PMS2):c.568G>A (p.Ala190Thr)
|
rs1784822104
|
|
NM_000535.7(PMS2):c.569C>T (p.Ala190Val)
|
|
|
NM_000535.7(PMS2):c.56A>G (p.Asp19Gly)
|
rs1554306564
|
|
NM_000535.7(PMS2):c.570A>G (p.Ala190=)
|
rs1784821785
|
|
NM_000535.7(PMS2):c.575G>C (p.Cys192Ser)
|
rs772404945
|
|
NM_000535.7(PMS2):c.575G>T (p.Cys192Phe)
|
|
|
NM_000535.7(PMS2):c.576T>C (p.Cys192=)
|
rs1554302497
|
|
NM_000535.7(PMS2):c.576del (p.Tyr191_Cys192insTer)
|
|
|
NM_000535.7(PMS2):c.579C>T (p.Ile193=)
|
|
|
NM_000535.7(PMS2):c.580A>G (p.Ile194Val)
|
rs1554302492
|
|
NM_000535.7(PMS2):c.582T>G (p.Ile194Met)
|
rs1554302490
|
|
NM_000535.7(PMS2):c.585A>G (p.Ser195=)
|
|
|
NM_000535.7(PMS2):c.586G>A (p.Ala196Thr)
|
rs1784818316
|
|
NM_000535.7(PMS2):c.586G>C (p.Ala196Pro)
|
rs1784818316
|
|
NM_000535.7(PMS2):c.587C>T (p.Ala196Val)
|
rs1554302485
|
|
NM_000535.7(PMS2):c.589G>A (p.Gly197Ser)
|
|
|
NM_000535.7(PMS2):c.58C>A (p.Arg20=)
|
rs573374779
|
|
NM_000535.7(PMS2):c.58C>G (p.Arg20Gly)
|
rs573374779
|
|
NM_000535.7(PMS2):c.590G>A (p.Gly197Asp)
|
rs1260124992
|
|
NM_000535.7(PMS2):c.593T>C (p.Ile198Thr)
|
rs2128801302
|
|
NM_000535.7(PMS2):c.595C>A (p.Arg199Ser)
|
|
|
NM_000535.7(PMS2):c.595dup (p.Arg199fs)
|
|
|
NM_000535.7(PMS2):c.596G>C (p.Arg199Pro)
|
rs876658387
|
|
NM_000535.7(PMS2):c.598del (p.Arg199_Val200insTer)
|
|
|
NM_000535.7(PMS2):c.59G>C (p.Arg20Pro)
|
rs10254120
|
|
NM_000535.7(PMS2):c.5A>G (p.Glu2Gly)
|
rs876658233
|
|
NM_000535.7(PMS2):c.5A>T (p.Glu2Val)
|
rs876658233
|
|
NM_000535.7(PMS2):c.606C>T (p.Cys202=)
|
rs1562678720
|
|
NM_000535.7(PMS2):c.607A>C (p.Thr203Pro)
|
|
|
NM_000535.7(PMS2):c.607A>G (p.Thr203Ala)
|
rs730881907
|
|
NM_000535.7(PMS2):c.608C>T (p.Thr203Ile)
|
rs779946576
|
|
NM_000535.7(PMS2):c.609C>A (p.Thr203=)
|
|
|
NM_000535.7(PMS2):c.609_610delinsGG (p.Asn204Asp)
|
rs1554302457
|
|
NM_000535.7(PMS2):c.60G>C (p.Arg20=)
|
rs1554306548
|
|
NM_000535.7(PMS2):c.613C>A (p.Gln205Lys)
|
rs758250810
|
|
NM_000535.7(PMS2):c.613C>G (p.Gln205Glu)
|
rs758250810
|
|
NM_000535.7(PMS2):c.613C>T (p.Gln205Ter)
|
rs758250810
|
|
NM_000535.7(PMS2):c.615G>C (p.Gln205His)
|
rs752499497
|
|
NM_000535.7(PMS2):c.616C>G (p.Leu206Val)
|
|
|
NM_000535.7(PMS2):c.616C>T (p.Leu206Phe)
|
|
|
NM_000535.7(PMS2):c.617T>C (p.Leu206Pro)
|
|
|
NM_000535.7(PMS2):c.618T>C (p.Leu206=)
|
rs1554302439
|
|
NM_000535.7(PMS2):c.619G>A (p.Gly207Arg)
|
rs368847322
|
|
NM_000535.7(PMS2):c.619G>C (p.Gly207Arg)
|
rs368847322
|
|
NM_000535.7(PMS2):c.621A>T (p.Gly207=)
|
|
|
NM_000535.7(PMS2):c.622C>A (p.Gln208Lys)
|
|
|
NM_000535.7(PMS2):c.622C>G (p.Gln208Glu)
|
rs1784808623
|
|
NM_000535.7(PMS2):c.623A>G (p.Gln208Arg)
|
rs1554302423
|
|
NM_000535.7(PMS2):c.625G>T (p.Gly209Ter)
|
|
|
NM_000535.7(PMS2):c.627A>G (p.Gly209=)
|
rs754540642
|
|
NM_000535.7(PMS2):c.629A>C (p.Lys210Thr)
|
rs753562256
|
|
NM_000535.7(PMS2):c.62A>G (p.Lys21Arg)
|
rs1458424619
|
|
NM_000535.7(PMS2):c.630dup (p.Arg211fs)
|
|
|
NM_000535.7(PMS2):c.631C>G (p.Arg211Gly)
|
rs760228510
|
|
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter)
|
rs760228510
|
|
NM_000535.7(PMS2):c.632G>T (p.Arg211Leu)
|
rs587781934
|
|
NM_000535.7(PMS2):c.633A>T (p.Arg211=)
|
rs1562678272
|
|
NM_000535.7(PMS2):c.634C>T (p.Gln212Ter)
|
rs1562678257
|
|
NM_000535.7(PMS2):c.636G>A (p.Gln212=)
|
rs1784804225
|
|
NM_000535.7(PMS2):c.638C>A (p.Pro213His)
|
|
|
NM_000535.7(PMS2):c.639T>C (p.Pro213=)
|
rs1210294498
|
|
NM_000535.7(PMS2):c.63G>A (p.Lys21=)
|
rs772643900
|
|
NM_000535.7(PMS2):c.63G>C (p.Lys21Asn)
|
|
|
NM_000535.7(PMS2):c.63G>T (p.Lys21Asn)
|
rs772643900
|
|
NM_000535.7(PMS2):c.641T>G (p.Val214Gly)
|
rs864622706
|
|
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs)
|
rs1784802468
|
|
NM_000535.7(PMS2):c.642G>A (p.Val214=)
|
rs2128800346
|
|
NM_000535.7(PMS2):c.643G>A (p.Val215Ile)
|
rs1064794017
|
|
NM_000535.7(PMS2):c.644T>C (p.Val215Ala)
|
rs1554302383
|
|
NM_000535.7(PMS2):c.645A>G (p.Val215=)
|
rs1221117740
|
|
NM_000535.7(PMS2):c.646T>C (p.Cys216Arg)
|
rs371402182
|
|
NM_000535.7(PMS2):c.647G>A (p.Cys216Tyr)
|
|
|
NM_000535.7(PMS2):c.648C>T (p.Cys216=)
|
rs762387250
|
|
NM_000535.7(PMS2):c.649A>C (p.Thr217Pro)
|
rs1784800451
|
|
NM_000535.7(PMS2):c.651A>T (p.Thr217=)
|
|
|
NM_000535.7(PMS2):c.652G>A (p.Gly218Ser)
|
rs878854055
|
|
NM_000535.7(PMS2):c.652G>C (p.Gly218Arg)
|
rs878854055
|
|
NM_000535.7(PMS2):c.654T>G (p.Gly218=)
|
rs1583386307
|
|
NM_000535.7(PMS2):c.655G>A (p.Gly219Arg)
|
|
|
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter)
|
rs1064796190
|
|
NM_000535.7(PMS2):c.656G>A (p.Gly219Glu)
|
rs749431015
|
|
NM_000535.7(PMS2):c.659G>A (p.Ser220Asn)
|
rs769967916
|
|
NM_000535.7(PMS2):c.659G>T (p.Ser220Ile)
|
rs769967916
|
|
NM_000535.7(PMS2):c.65C>A (p.Ser22Ter)
|
rs767028531
|
|
NM_000535.7(PMS2):c.65C>G (p.Ser22Ter)
|
rs767028531
|
|
NM_000535.7(PMS2):c.662C>G (p.Pro221Arg)
|
rs878854056
|
|
NM_000535.7(PMS2):c.662C>T (p.Pro221Leu)
|
rs878854056
|
|
NM_000535.7(PMS2):c.665G>A (p.Ser222Asn)
|
rs560462942
|
|
NM_000535.7(PMS2):c.665G>T (p.Ser222Ile)
|
rs560462942
|
|
NM_000535.7(PMS2):c.666C>A (p.Ser222Arg)
|
|
|
NM_000535.7(PMS2):c.666C>G (p.Ser222Arg)
|
rs1784796294
|
|
NM_000535.7(PMS2):c.666C>T (p.Ser222=)
|
|
|
NM_000535.7(PMS2):c.669A>G (p.Ile223Met)
|
|
|
NM_000535.7(PMS2):c.66A>G (p.Ser22=)
|
|
|
NM_000535.7(PMS2):c.672G>C (p.Lys224Asn)
|
rs748141595
|
|
NM_000535.7(PMS2):c.673G>A (p.Glu225Lys)
|
rs1562677770
|
|
NM_000535.7(PMS2):c.674A>G (p.Glu225Gly)
|
rs2128799688
|
|
NM_000535.7(PMS2):c.675A>G (p.Glu225=)
|
rs876661233
|
|
NM_000535.7(PMS2):c.676A>C (p.Asn226His)
|
rs587782791
|
|
NM_000535.7(PMS2):c.677A>G (p.Asn226Ser)
|
rs778534735
|
|
NM_000535.7(PMS2):c.678T>C (p.Asn226=)
|
|
|
NM_000535.7(PMS2):c.679A>C (p.Ile227Leu)
|
|
|
NM_000535.7(PMS2):c.679A>G (p.Ile227Val)
|
rs1554302326
|
|
NM_000535.7(PMS2):c.679_689dup (p.Phe231fs)
|
|
|
NM_000535.7(PMS2):c.67G>T (p.Val23Phe)
|
|
|
NM_000535.7(PMS2):c.680T>A (p.Ile227Asn)
|
|
|
NM_000535.7(PMS2):c.680T>G (p.Ile227Ser)
|
rs1583385976
|
|
NM_000535.7(PMS2):c.681C>A (p.Ile227=)
|
rs188813057
|
|
NM_000535.7(PMS2):c.681C>G (p.Ile227Met)
|
|
|
NM_000535.7(PMS2):c.683G>A (p.Gly228Asp)
|
|
|
NM_000535.7(PMS2):c.683G>T (p.Gly228Val)
|
rs1554302319
|
|
NM_000535.7(PMS2):c.684C>A (p.Gly228=)
|
|
|
NM_000535.7(PMS2):c.684C>T (p.Gly228=)
|
rs371876208
|
|
NM_000535.7(PMS2):c.685T>C (p.Ser229Pro)
|
rs730881909
|
|
NM_000535.7(PMS2):c.686_687del (p.Ser229fs)
|
rs746766787
|
|
NM_000535.7(PMS2):c.688G>A (p.Val230Met)
|
rs1562677528
|
|
NM_000535.7(PMS2):c.688G>C (p.Val230Leu)
|
|
|
NM_000535.7(PMS2):c.689T>C (p.Val230Ala)
|
|
|
NM_000535.7(PMS2):c.690G>A (p.Val230=)
|
rs749871098
|
|
NM_000535.7(PMS2):c.690G>C (p.Val230=)
|
rs749871098
|
|
NM_000535.7(PMS2):c.690G>T (p.Val230=)
|
rs749871098
|
|
NM_000535.7(PMS2):c.690_691del (p.Phe231fs)
|
rs1064795447
|
|
NM_000535.7(PMS2):c.693T>C (p.Phe231=)
|
rs2128799215
|
|
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu)
|
rs201811667
|
|
NM_000535.7(PMS2):c.696G>A (p.Gly232=)
|
|
|
NM_000535.7(PMS2):c.696G>T (p.Gly232=)
|
rs1358310474
|
|
NM_000535.7(PMS2):c.697C>G (p.Gln233Glu)
|
rs587779343
|
|
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter)
|
rs587779343
|
|
NM_000535.7(PMS2):c.699G>A (p.Gln233=)
|
|
|
NM_000535.7(PMS2):c.69C>G (p.Val23=)
|
|
|
NM_000535.7(PMS2):c.6G>C (p.Glu2Asp)
|
|
|
NM_000535.7(PMS2):c.700A>T (p.Lys234Ter)
|
|
|
NM_000535.7(PMS2):c.703C>T (p.Gln235Ter)
|
rs63750261
|
|
NM_000535.7(PMS2):c.704A>C (p.Gln235Pro)
|
rs2128798976
|
|
NM_000535.7(PMS2):c.704A>G (p.Gln235Arg)
|
|
|
NM_000535.7(PMS2):c.705+1G>A
|
rs267608147
|
|
NM_000535.7(PMS2):c.705+1G>C
|
rs267608147
|
|
NM_000535.7(PMS2):c.705+1G>T
|
rs267608147
|
|
NM_000535.7(PMS2):c.705+1del
|
|
|
NM_000535.7(PMS2):c.705+2T>C
|
rs1784783734
|
|
NM_000535.7(PMS2):c.705+5T>G
|
|
|
NM_000535.7(PMS2):c.705G>A (p.Gln235=)
|
rs876660872
|
|
NM_000535.7(PMS2):c.705G>C (p.Gln235His)
|
rs876660872
|
|
NM_000535.7(PMS2):c.705G>T (p.Gln235His)
|
|
|
NM_000535.7(PMS2):c.706-10_706-4del
|
|
|
NM_000535.7(PMS2):c.706-11T>C
|
rs1185117521
|
|
NM_000535.7(PMS2):c.706-13T>G
|
|
|
NM_000535.7(PMS2):c.706-18T>A
|
rs1562671759
|
|
NM_000535.7(PMS2):c.706-1G>A
|
rs1202370194
|
|
NM_000535.7(PMS2):c.706-1G>C
|
|
|
NM_000535.7(PMS2):c.706-1G>T
|
|
|
NM_000535.7(PMS2):c.706-24_706-20delinsAA
|
rs1784554126
|
|
NM_000535.7(PMS2):c.706-24_706-22del
|
rs1163257444
|
|
NM_000535.7(PMS2):c.706-24_706-23del
|
|
|
NM_000535.7(PMS2):c.706-2A>C
|
rs745487791
|
|
NM_000535.7(PMS2):c.706-3C>A
|
rs1229860023
|
|
NM_000535.7(PMS2):c.706-3del
|
rs770480662
|
|
NM_000535.7(PMS2):c.706-3delinsTA
|
rs1436961952
|
|
NM_000535.7(PMS2):c.706-4_706-3del
|
|
|
NM_000535.7(PMS2):c.706-4_706-3delinsA
|
rs1554301576
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-5T>C
|
rs1203452929
|
|
NM_000535.7(PMS2):c.706-5_706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-5_706-4dup
|
|
|
NM_000535.7(PMS2):c.706-6_706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-7_706-6insG
|
rs570998668
|
|
NM_000535.7(PMS2):c.707_709del (p.Leu236_Gln237delinsTer)
|
|
|
NM_000535.7(PMS2):c.708G>A (p.Leu236=)
|
rs201395630
|
|
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)
|
rs201395630
|
|
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu)
|
rs587780061
|
|
NM_000535.7(PMS2):c.710_714del (p.Gln237fs)
|
rs1784546407
|
|
NM_000535.7(PMS2):c.710_718delinsT (p.Gln237fs)
|
|
|
NM_000535.7(PMS2):c.712A>G (p.Ser238Gly)
|
rs1060503149
|
|
NM_000535.7(PMS2):c.712del (p.Ser238fs)
|
rs1554301561
|
|
NM_000535.7(PMS2):c.713G>T (p.Ser238Ile)
|
|
|
NM_000535.7(PMS2):c.716T>A (p.Leu239His)
|
|
|
NM_000535.7(PMS2):c.716T>G (p.Leu239Arg)
|
rs1060503136
|
|
NM_000535.7(PMS2):c.717C>T (p.Leu239=)
|
|
|
NM_000535.7(PMS2):c.717_723dup (p.Phe242fs)
|
rs1583375182
|
|
NM_000535.7(PMS2):c.718A>G (p.Ile240Val)
|
|
|
NM_000535.7(PMS2):c.718A>T (p.Ile240Phe)
|
rs746592049
|
|
NM_000535.7(PMS2):c.719T>C (p.Ile240Thr)
|
|
|
NM_000535.7(PMS2):c.71A>G (p.His24Arg)
|
rs139233015
|
|
NM_000535.7(PMS2):c.720T>C (p.Ile240=)
|
rs777148436
|
|
NM_000535.7(PMS2):c.721C>G (p.Pro241Ala)
|
rs779411667
|
|
NM_000535.7(PMS2):c.721C>T (p.Pro241Ser)
|
|
|
NM_000535.7(PMS2):c.722C>G (p.Pro241Arg)
|
rs1554301523
|
|
NM_000535.7(PMS2):c.722C>T (p.Pro241Leu)
|
rs1554301523
|
|
NM_000535.7(PMS2):c.723T>G (p.Pro241=)
|
|
|
NM_000535.7(PMS2):c.726T>A (p.Phe242Leu)
|
rs1346863182
|
|
NM_000535.7(PMS2):c.726T>C (p.Phe242=)
|
rs1346863182
|
|
NM_000535.7(PMS2):c.726del (p.Phe242fs)
|
rs1583375132
|
|
NM_000535.7(PMS2):c.727G>C (p.Val243Leu)
|
rs867655834
|
|
NM_000535.7(PMS2):c.727G>T (p.Val243Phe)
|
rs867655834
|
|
NM_000535.7(PMS2):c.730C>A (p.Gln244Lys)
|
|
|
NM_000535.7(PMS2):c.730C>G (p.Gln244Glu)
|
rs1562671039
|
|
NM_000535.7(PMS2):c.730C>T (p.Gln244Ter)
|
rs1562671039
|
|
NM_000535.7(PMS2):c.730del (p.Gln244fs)
|
rs1583375062
|
|
NM_000535.7(PMS2):c.731A>G (p.Gln244Arg)
|
|
|
NM_000535.7(PMS2):c.732G>A (p.Gln244=)
|
|
|
NM_000535.7(PMS2):c.733C>G (p.Leu245Val)
|
rs201375580
|
|
NM_000535.7(PMS2):c.734T>C (p.Leu245Pro)
|
|
|
NM_000535.7(PMS2):c.736C>A (p.Pro246Thr)
|
rs765668173
|
|
NM_000535.7(PMS2):c.736C>T (p.Pro246Ser)
|
rs765668173
|
|
NM_000535.7(PMS2):c.736_741delinsGTGTGTGTGAA (p.Pro246fs)
|
|
|
NM_000535.7(PMS2):c.736_741delinsGTTGTGAAG (p.Pro246_Pro247delinsValValLys)
|
rs267608150
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.737C>A (p.Pro246His)
|
rs1562670885
|
|
NM_000535.7(PMS2):c.737C>T (p.Pro246Leu)
|
|
|
NM_000535.7(PMS2):c.739C>A (p.Pro247Thr)
|
rs878854058
|
|
NM_000535.7(PMS2):c.739C>G (p.Pro247Ala)
|
rs878854058
|
|
NM_000535.7(PMS2):c.739C>T (p.Pro247Ser)
|
rs878854058
|
|
NM_000535.7(PMS2):c.73C>G (p.Gln25Glu)
|
|
|
NM_000535.7(PMS2):c.73C>T (p.Gln25Ter)
|
rs1554306528
|
|
NM_000535.7(PMS2):c.740C>T (p.Pro247Leu)
|
|
|
NM_000535.7(PMS2):c.740del (p.Pro247fs)
|
|
|
NM_000535.7(PMS2):c.740dup (p.Pro247_Ser248insTer)
|
|
|
NM_000535.7(PMS2):c.741T>A (p.Pro247=)
|
|
|
NM_000535.7(PMS2):c.741_742insTGAAG (p.Ser248Ter)
|
rs756653193
|
|
NM_000535.7(PMS2):c.741del (p.Ser248fs)
|
rs1583374709
|
|
NM_000535.7(PMS2):c.742dup (p.Ser248fs)
|
rs1784536095
|
|
NM_000535.7(PMS2):c.743G>C (p.Ser248Thr)
|
rs1784535776
|
|
NM_000535.7(PMS2):c.744T>C (p.Ser248=)
|
rs1554301489
|
|
NM_000535.7(PMS2):c.746_753del (p.Asp249fs)
|
rs587782710
|
|
NM_000535.7(PMS2):c.748_749del (p.Ser250fs)
|
rs1554301486
|
|
NM_000535.7(PMS2):c.749C>T (p.Ser250Phe)
|
|
|
NM_000535.7(PMS2):c.750C>A (p.Ser250=)
|
|
|
NM_000535.7(PMS2):c.751G>C (p.Val251Leu)
|
rs142434011
|
|
NM_000535.7(PMS2):c.752_757delinsCGTGTGTT (p.Val251fs)
|
rs1583374436
|
|
NM_000535.7(PMS2):c.753G>A (p.Val251=)
|
rs762836049
|
|
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs1064794905
|
|
NM_000535.7(PMS2):c.756_757dup (p.Glu253fs)
|
|
|
NM_000535.7(PMS2):c.758A>C (p.Glu253Ala)
|
rs876661002
|
|
NM_000535.7(PMS2):c.758_759del (p.Glu253fs)
|
rs1583374404
|
|
NM_000535.7(PMS2):c.759A>G (p.Glu253=)
|
rs745720298
|
|
NM_000535.7(PMS2):c.759_764del (p.Glu253_Tyr255delinsAsp)
|
rs1562670309
|
|
NM_000535.7(PMS2):c.75G>A (p.Gln25=)
|
rs1554306525
|
|
NM_000535.7(PMS2):c.75G>T (p.Gln25His)
|
rs1554306525
|
|
NM_000535.7(PMS2):c.760G>T (p.Glu254Ter)
|
|
|
NM_000535.7(PMS2):c.763T>A (p.Tyr255Asn)
|
rs1554301471
|
|
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)
|
rs573125799
|
|
NM_000535.7(PMS2):c.765C>G (p.Tyr255Ter)
|
|
|
NM_000535.7(PMS2):c.766G>C (p.Gly256Arg)
|
rs587782633
|
|
NM_000535.7(PMS2):c.767G>A (p.Gly256Asp)
|
|
|
NM_000535.7(PMS2):c.767del (p.Gly256fs)
|
|
|
NM_000535.7(PMS2):c.768T>C (p.Gly256=)
|
rs876660396
|
|
NM_000535.7(PMS2):c.769T>C (p.Leu257=)
|
rs1304403166
|
|
NM_000535.7(PMS2):c.770T>G (p.Leu257Trp)
|
rs1554301463
|
|
NM_000535.7(PMS2):c.771G>C (p.Leu257Phe)
|
|
|
NM_000535.7(PMS2):c.773G>A (p.Ser258Asn)
|
rs587780727
|
|
NM_000535.7(PMS2):c.774C>A (p.Ser258Arg)
|
|
|
NM_000535.7(PMS2):c.774_780delinsTACG (p.Cys259_Ser260delinsThr)
|
rs1554301436
|
|
NM_000535.7(PMS2):c.775T>C (p.Cys259Arg)
|
rs1554301455
|
|
NM_000535.7(PMS2):c.776G>A (p.Cys259Tyr)
|
|
|
NM_000535.7(PMS2):c.778T>C (p.Ser260Pro)
|
|
|
NM_000535.7(PMS2):c.778_780delinsCG (p.Ser260fs)
|
|
|
NM_000535.7(PMS2):c.778_781del (p.Ser260fs)
|
|
|
NM_000535.7(PMS2):c.779C>G (p.Ser260Cys)
|
rs777286241
|
|
NM_000535.7(PMS2):c.779_780delinsTG (p.Ser260Leu)
|
rs730881920
|
|
NM_000535.7(PMS2):c.779_780inv (p.Ser260Trp)
|
|
|
NM_000535.7(PMS2):c.77T>C (p.Ile26Thr)
|
rs1583419301
|
|
NM_000535.7(PMS2):c.780C>A (p.Ser260=)
|
rs1805319
|
|
NM_000535.7(PMS2):c.780C>T (p.Ser260=)
|
rs1805319
|
|
NM_000535.7(PMS2):c.780del (p.Asp261fs)
|
rs587779344
|
|
NM_000535.7(PMS2):c.781G>A (p.Asp261Asn)
|
rs1060503150
|
|
NM_000535.7(PMS2):c.782A>G (p.Asp261Gly)
|
rs1562669887
|
|
NM_000535.7(PMS2):c.783T>C (p.Asp261=)
|
|
|
NM_000535.7(PMS2):c.784G>A (p.Ala262Thr)
|
rs779625900
|
|
NM_000535.7(PMS2):c.784G>T (p.Ala262Ser)
|
rs779625900
|
|
NM_000535.7(PMS2):c.785C>T (p.Ala262Val)
|
|
|
NM_000535.7(PMS2):c.786T>G (p.Ala262=)
|
|
|
NM_000535.7(PMS2):c.787C>G (p.Leu263Val)
|
rs587779345
|
|
NM_000535.7(PMS2):c.787C>T (p.Leu263=)
|
rs587779345
|
|
NM_000535.7(PMS2):c.789G>A (p.Leu263=)
|
rs755394319
|
|
NM_000535.7(PMS2):c.789G>T (p.Leu263=)
|
|
|
NM_000535.7(PMS2):c.78_107del (p.Cys27_Ser36del)
|
rs1554306440
|
|
NM_000535.7(PMS2):c.790C>T (p.His264Tyr)
|
rs2128786522
|
|
NM_000535.7(PMS2):c.792T>G (p.His264Gln)
|
rs1554301398
|
|
NM_000535.7(PMS2):c.796C>G (p.Leu266Val)
|
rs1583373747
|
|
NM_000535.7(PMS2):c.797T>C (p.Leu266Pro)
|
rs2128786412
|
|
NM_000535.7(PMS2):c.798_803+15delinsGTAGTTCT
|
|
|
NM_000535.7(PMS2):c.799_800insAAAT (p.Phe267Ter)
|
|
|
NM_000535.7(PMS2):c.79del (p.Cys27fs)
|
|
|
NM_000535.7(PMS2):c.7C>A (p.Arg3=)
|
rs763939668
|
|
NM_000535.7(PMS2):c.7C>T (p.Arg3Ter)
|
rs763939668
|
|
NM_000535.7(PMS2):c.801T>A (p.Phe267Leu)
|
rs1554301382
|
|
NM_000535.7(PMS2):c.801T>C (p.Phe267=)
|
|
|
NM_000535.7(PMS2):c.801_802del (p.Phe267fs)
|
|
|
NM_000535.7(PMS2):c.802T>C (p.Tyr268His)
|
rs1583373654
|
|
NM_000535.7(PMS2):c.802del (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.802dup (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.803+11dup
|
rs1554301378
|
|
NM_000535.7(PMS2):c.803+1G>T
|
rs1562669585
|
|
NM_000535.7(PMS2):c.803+2T>A
|
|
|
NM_000535.7(PMS2):c.803+2T>G
|
|
|
NM_000535.7(PMS2):c.803+3A>G
|
|
|
NM_000535.7(PMS2):c.803+5G>A
|
rs939641251
|
|
NM_000535.7(PMS2):c.803A>G (p.Tyr268Cys)
|
rs1347758423
|
|
NM_000535.7(PMS2):c.803_804insAAATA (p.Tyr268Ter)
|
|
|
NM_000535.7(PMS2):c.804-10T>G
|
rs267608151
|
|
NM_000535.7(PMS2):c.804-11A>G
|
|
|
NM_000535.7(PMS2):c.804-13T>C
|
rs1562664935
|
|
NM_000535.7(PMS2):c.804-13T>G
|
rs1562664935
|
|
NM_000535.7(PMS2):c.804-16T>C
|
rs1264781818
|
|
NM_000535.7(PMS2):c.804-1G>A
|
rs1562664845
|
|
NM_000535.7(PMS2):c.804-1G>C
|
|
|
NM_000535.7(PMS2):c.804-1G>T
|
|
|
NM_000535.7(PMS2):c.804-3T>A
|
|
|
NM_000535.7(PMS2):c.804-4A>C
|
rs1475598645
|
|
NM_000535.7(PMS2):c.804-6G>A
|
rs1784318449
|
|
NM_000535.7(PMS2):c.804-9G>A
|
rs780427536
|
|
NM_000535.7(PMS2):c.805A>G (p.Ile269Val)
|
rs1554300825
|
|
NM_000535.7(PMS2):c.807C>G (p.Ile269Met)
|
rs1784316728
|
|
NM_000535.7(PMS2):c.808T>C (p.Ser270Pro)
|
|
|
NM_000535.7(PMS2):c.809C>A (p.Ser270Ter)
|
|
|
NM_000535.7(PMS2):c.811G>A (p.Gly271Ser)
|
rs1583364895
|
|
NM_000535.7(PMS2):c.811G>C (p.Gly271Arg)
|
|
|
NM_000535.7(PMS2):c.812G>A (p.Gly271Asp)
|
rs1583364867
|
|
NM_000535.7(PMS2):c.812G>T (p.Gly271Val)
|
rs1583364867
|
|
NM_000535.7(PMS2):c.813_826del (p.Phe272fs)
|
|
|
NM_000535.7(PMS2):c.815del (p.Phe272fs)
|
|
|
NM_000535.7(PMS2):c.816C>A (p.Phe272Leu)
|
|
|
NM_000535.7(PMS2):c.816C>G (p.Phe272Leu)
|
|
|
NM_000535.7(PMS2):c.817A>G (p.Ile273Val)
|
rs587778621
|
|
NM_000535.7(PMS2):c.81C>A (p.Cys27Ter)
|
|
|
NM_000535.7(PMS2):c.81C>T (p.Cys27=)
|
|
|
NM_000535.7(PMS2):c.821C>G (p.Ser274Ter)
|
|
|
NM_000535.7(PMS2):c.822A>C (p.Ser274=)
|
|
|
NM_000535.7(PMS2):c.822A>G (p.Ser274=)
|
rs1583364821
|
|
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)
|
rs587780062
|
|
NM_000535.7(PMS2):c.824A>G (p.Gln275Arg)
|
rs546966892
|
|
NM_000535.7(PMS2):c.826T>A (p.Cys276Ser)
|
rs1407229027
|
|
NM_000535.7(PMS2):c.826T>G (p.Cys276Gly)
|
|
|
NM_000535.7(PMS2):c.827G>A (p.Cys276Tyr)
|
rs1554300806
|
|
NM_000535.7(PMS2):c.828C>A (p.Cys276Ter)
|
rs757324104
|
|
NM_000535.7(PMS2):c.828C>G (p.Cys276Trp)
|
|
|
NM_000535.7(PMS2):c.828C>T (p.Cys276=)
|
rs757324104
|
|
NM_000535.7(PMS2):c.829A>C (p.Thr277Pro)
|
rs1583364586
|
|
NM_000535.7(PMS2):c.829A>T (p.Thr277Ser)
|
rs1583364586
|
|
NM_000535.7(PMS2):c.829dup (p.Thr277fs)
|
|
|
NM_000535.7(PMS2):c.82T>G (p.Ser28Ala)
|
rs587781908
|
|
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)
|
rs1805322
|
|
NM_000535.7(PMS2):c.830C>G (p.Thr277Arg)
|
|
|
NM_000535.7(PMS2):c.830C>T (p.Thr277Met)
|
rs1805322
|
|
NM_000535.7(PMS2):c.830_831insA (p.His278fs)
|
|
|
NM_000535.7(PMS2):c.831G>T (p.Thr277=)
|
rs116481522
|
|
NM_000535.7(PMS2):c.831del (p.His278fs)
|
|
|
NM_000535.7(PMS2):c.832C>A (p.His278Asn)
|
rs1554300796
|
|
NM_000535.7(PMS2):c.832C>T (p.His278Tyr)
|
rs1554300796
|
|
NM_000535.7(PMS2):c.833A>G (p.His278Arg)
|
rs1562664434
|
|
NM_000535.7(PMS2):c.833A>T (p.His278Leu)
|
|
|
NM_000535.7(PMS2):c.836G>T (p.Gly279Val)
|
rs587782668
|
|
NM_000535.7(PMS2):c.838G>A (p.Val280Ile)
|
|
|
NM_000535.7(PMS2):c.83C>T (p.Ser28Phe)
|
rs1785707505
|
|
NM_000535.7(PMS2):c.842G>A (p.Gly281Glu)
|
rs2128775853
|
|
NM_000535.7(PMS2):c.846_848del (p.Arg282del)
|
rs776688670
|
|
NM_000535.7(PMS2):c.848G>A (p.Ser283Asn)
|
rs1784307166
|
|
NM_000535.7(PMS2):c.849T>A (p.Ser283Arg)
|
rs1277038817
|
|
NM_000535.7(PMS2):c.849T>C (p.Ser283=)
|
rs1277038817
|
|
NM_000535.7(PMS2):c.84del (p.Gln30fs)
|
|
|
NM_000535.7(PMS2):c.850T>G (p.Ser284Ala)
|
|
|
NM_000535.7(PMS2):c.851C>G (p.Ser284Ter)
|
rs587782898
|
|
NM_000535.7(PMS2):c.851C>T (p.Ser284Leu)
|
rs587782898
|
|
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer)
|
rs876658964
|
|
NM_000535.7(PMS2):c.852_855del (p.Arg287fs)
|
|
|
NM_000535.7(PMS2):c.854C>A (p.Thr285Lys)
|
rs1583364029
|
|
NM_000535.7(PMS2):c.854C>T (p.Thr285Ile)
|
rs1583364029
|
|
NM_000535.7(PMS2):c.855A>T (p.Thr285=)
|
|
|
NM_000535.7(PMS2):c.856G>C (p.Asp286His)
|
|
|
NM_000535.7(PMS2):c.857_864del (p.Asp286fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu)
|
rs201921616
|
|
NM_000535.7(PMS2):c.859A>G (p.Arg287Gly)
|
rs876658712
|
|
NM_000535.7(PMS2):c.859A>T (p.Arg287Ter)
|
|
|
NM_000535.7(PMS2):c.859dup (p.Arg287fs)
|
rs1554300763
|
|
NM_000535.7(PMS2):c.85G>A (p.Gly29Arg)
|
rs1583419271
|
|
NM_000535.7(PMS2):c.860G>A (p.Arg287Lys)
|
rs1060503122
|
|
NM_000535.7(PMS2):c.861A>G (p.Arg287=)
|
|
|
NM_000535.7(PMS2):c.861A>T (p.Arg287Ser)
|
rs1554300756
|
|
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.862C>T (p.Gln288Ter)
|
rs1583363851
|
|
NM_000535.7(PMS2):c.862_863del (p.Gln288fs)
|
rs63750246
|
|
NM_000535.7(PMS2):c.863A>G (p.Gln288Arg)
|
rs1784301984
|
|
NM_000535.7(PMS2):c.864G>A (p.Gln288=)
|
rs990212889
|
|
NM_000535.7(PMS2):c.864G>T (p.Gln288His)
|
rs990212889
|
|
NM_000535.7(PMS2):c.865T>C (p.Phe289Leu)
|
rs771787834
|
|
NM_000535.7(PMS2):c.865_866insCTGT (p.Phe289fs)
|
|
|
NM_000535.7(PMS2):c.866T>G (p.Phe289Cys)
|
|
|
NM_000535.7(PMS2):c.868T>C (p.Phe290Leu)
|
rs587782833
|
|
NM_000535.7(PMS2):c.869T>A (p.Phe290Tyr)
|
rs1031512870
|
|
NM_000535.7(PMS2):c.869T>C (p.Phe290Ser)
|
rs1031512870
|
|
NM_000535.7(PMS2):c.869del (p.Phe290fs)
|
rs2128775109
|
|
NM_000535.7(PMS2):c.870C>T (p.Phe290=)
|
|
|
NM_000535.7(PMS2):c.871T>C (p.Phe291Leu)
|
|
|
NM_000535.7(PMS2):c.873del (p.Phe291fs)
|
rs1261282733
|
|
NM_000535.7(PMS2):c.874A>T (p.Ile292Phe)
|
rs587781281
|
|
NM_000535.7(PMS2):c.878A>C (p.Asn293Thr)
|
rs1274671450
|
|
NM_000535.7(PMS2):c.878dup (p.Asn293fs)
|
rs1344095646
|
|
NM_000535.7(PMS2):c.87G>T (p.Gly29=)
|
rs876659642
|
|
NM_000535.7(PMS2):c.880C>A (p.Arg294=)
|
|
|
NM_000535.7(PMS2):c.881G>C (p.Arg294Pro)
|
|
|
NM_000535.7(PMS2):c.881G>T (p.Arg294Leu)
|
rs373239341
|
|
NM_000535.7(PMS2):c.883C>A (p.Arg295=)
|
|
|
NM_000535.7(PMS2):c.885G>T (p.Arg295=)
|
rs786201615
|
|
NM_000535.7(PMS2):c.886C>G (p.Pro296Ala)
|
rs375553553
|
|
NM_000535.7(PMS2):c.887C>A (p.Pro296His)
|
rs1562663523
|
|
NM_000535.7(PMS2):c.888T>C (p.Pro296=)
|
|
|
NM_000535.7(PMS2):c.889T>G (p.Cys297Gly)
|
rs1562663507
|
|
NM_000535.7(PMS2):c.88C>G (p.Gln30Glu)
|
rs141577476
|
|
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)
|
rs141577476
|
|
NM_000535.7(PMS2):c.890G>A (p.Cys297Tyr)
|
rs869312802
|
|
NM_000535.7(PMS2):c.890G>C (p.Cys297Ser)
|
rs869312802
|
|
NM_000535.7(PMS2):c.892G>A (p.Asp298Asn)
|
rs876660955
|
|
NM_000535.7(PMS2):c.892_893insT (p.Asp298fs)
|
|
|
NM_000535.7(PMS2):c.893A>G (p.Asp298Gly)
|
rs876658970
|
|
NM_000535.7(PMS2):c.894C>A (p.Asp298Glu)
|
|
|
NM_000535.7(PMS2):c.895C>A (p.Pro299Thr)
|
rs1562663421
|
|
NM_000535.7(PMS2):c.895C>T (p.Pro299Ser)
|
|
|
NM_000535.7(PMS2):c.896C>A (p.Pro299Gln)
|
|
|
NM_000535.7(PMS2):c.896C>T (p.Pro299Leu)
|
rs1402108044
|
|
NM_000535.7(PMS2):c.898G>A (p.Ala300Thr)
|
rs771561768
|
|
NM_000535.7(PMS2):c.899C>A (p.Ala300Glu)
|
rs1554300702
|
|
NM_000535.7(PMS2):c.899C>T (p.Ala300Val)
|
rs1554300702
|
|
NM_000535.7(PMS2):c.899_903+5delinsTAACAC
|
|
|
NM_000535.7(PMS2):c.899dup (p.Val302fs)
|
|
|
NM_000535.7(PMS2):c.8G>C (p.Arg3Pro)
|
rs375507981
|
|
NM_000535.7(PMS2):c.8G>T (p.Arg3Leu)
|
rs375507981
|
|
NM_000535.7(PMS2):c.902A>C (p.Lys301Thr)
|
rs1554300696
|
|
NM_000535.7(PMS2):c.902A>G (p.Lys301Arg)
|
|
|
NM_000535.7(PMS2):c.902dup (p.Val302fs)
|
rs1784291698
|
|
NM_000535.7(PMS2):c.903+11T>A
|
rs766296823
|
|
NM_000535.7(PMS2):c.903+17T>A
|
rs1784288209
|
|
NM_000535.7(PMS2):c.903+17dup
|
rs1562663194
|
|
NM_000535.7(PMS2):c.903+1G>A
|
rs1554300689
|
|
NM_000535.7(PMS2):c.903+1G>C
|
rs1554300689
|
|
NM_000535.7(PMS2):c.903+1G>T
|
rs1554300689
|
|
NM_000535.7(PMS2):c.903+20_903+21del
|
rs746861817
|
|
NM_000535.7(PMS2):c.903+2T>A
|
|
|
NM_000535.7(PMS2):c.903+2T>C
|
rs878854059
|
|
NM_000535.7(PMS2):c.903+4T>C
|
rs753803330
|
|
NM_000535.7(PMS2):c.903+5T>G
|
|
|
NM_000535.7(PMS2):c.903G>A (p.Lys301=)
|
rs267608153
|
|
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn)
|
rs267608153
|
|
NM_000535.7(PMS2):c.904-13G>T
|
rs1783816031
|
|
NM_000535.7(PMS2):c.904-14T>A
|
rs1064795266
|
|
NM_000535.7(PMS2):c.904-14T>C
|
rs1064795266
|
|
NM_000535.7(PMS2):c.904-14T>G
|
rs1064795266
|
|
NM_000535.7(PMS2):c.904-17_904-15del
|
rs749482906
|
|
NM_000535.7(PMS2):c.904-1G>T
|
|
|
NM_000535.7(PMS2):c.904-2A>C
|
rs587781339
|
|
NM_000535.7(PMS2):c.904-2A>G
|
rs587781339
|
|
NM_000535.7(PMS2):c.904-4G>T
|
rs1583345874
|
|
NM_000535.7(PMS2):c.904-7T>C
|
rs2128756503
|
|
NM_000535.7(PMS2):c.904G>A (p.Val302Ile)
|
rs755960629
|
|
NM_000535.7(PMS2):c.907T>C (p.Cys303Arg)
|
|
|
NM_000535.7(PMS2):c.909C>T (p.Cys303=)
|
rs1199497563
|
|
NM_000535.7(PMS2):c.910A>G (p.Arg304Gly)
|
rs1583345773
|
|
NM_000535.7(PMS2):c.911G>A (p.Arg304Lys)
|
rs1562652035
|
|
NM_000535.7(PMS2):c.911_912del (p.Arg304fs)
|
|
|
NM_000535.7(PMS2):c.912A>G (p.Arg304=)
|
rs1490717599
|
|
NM_000535.7(PMS2):c.913C>T (p.Leu305Phe)
|
rs750420143
|
|
NM_000535.7(PMS2):c.915C>A (p.Leu305=)
|
rs767392742
|
|
NM_000535.7(PMS2):c.915C>G (p.Leu305=)
|
rs767392742
|
|
NM_000535.7(PMS2):c.916G>C (p.Val306Leu)
|
rs587780063
|
|
NM_000535.7(PMS2):c.917T>A (p.Val306Glu)
|
rs786201878
|
|
NM_000535.7(PMS2):c.919A>G (p.Asn307Asp)
|
|
|
NM_000535.7(PMS2):c.91G>A (p.Val31Met)
|
rs786203763
|
|
NM_000535.7(PMS2):c.91G>T (p.Val31Leu)
|
rs786203763
|
|
NM_000535.7(PMS2):c.920A>C (p.Asn307Thr)
|
rs1583345602
|
|
NM_000535.7(PMS2):c.920A>G (p.Asn307Ser)
|
rs1583345602
|
|
NM_000535.7(PMS2):c.922G>A (p.Glu308Lys)
|
rs587781358
|
|
NM_000535.7(PMS2):c.922_933delinsA (p.Glu308fs)
|
rs1554299430
|
|
NM_000535.7(PMS2):c.923A>C (p.Glu308Ala)
|
rs1305296572
|
|
NM_000535.7(PMS2):c.924G>A (p.Glu308=)
|
|
|
NM_000535.7(PMS2):c.925G>T (p.Val309Phe)
|
rs763718441
|
|
NM_000535.7(PMS2):c.927C>A (p.Val309=)
|
|
|
NM_000535.7(PMS2):c.929A>G (p.Tyr310Cys)
|
rs372172981
|
|
NM_000535.7(PMS2):c.92T>C (p.Val31Ala)
|
|
|
NM_000535.7(PMS2):c.92T>G (p.Val31Gly)
|
|
|
NM_000535.7(PMS2):c.930C>A (p.Tyr310Ter)
|
|
|
NM_000535.7(PMS2):c.930C>T (p.Tyr310=)
|
rs1405625567
|
|
NM_000535.7(PMS2):c.931C>T (p.His311Tyr)
|
rs2128755904
|
|
NM_000535.7(PMS2):c.932_934delinsGCG (p.His311_Met312delinsArgVal)
|
|
|
NM_000535.7(PMS2):c.933C>G (p.His311Gln)
|
rs1057521069
|
|
NM_000535.7(PMS2):c.933C>T (p.His311=)
|
rs1057521069
|
|
NM_000535.7(PMS2):c.934A>T (p.Met312Leu)
|
rs786202567
|
|
NM_000535.7(PMS2):c.935T>C (p.Met312Thr)
|
rs530021751
|
|
NM_000535.7(PMS2):c.936_958del (p.Met312fs)
|
|
|
NM_000535.7(PMS2):c.938A>G (p.Tyr313Cys)
|
rs587782513
|
|
NM_000535.7(PMS2):c.939T>A (p.Tyr313Ter)
|
rs1562651617
|
|
NM_000535.7(PMS2):c.939T>C (p.Tyr313=)
|
|
|
NM_000535.7(PMS2):c.939T>G (p.Tyr313Ter)
|
rs1562651617
|
|
NM_000535.7(PMS2):c.93G>T (p.Val31=)
|
rs2128845564
|
|
NM_000535.7(PMS2):c.940A>G (p.Asn314Asp)
|
|
|
NM_000535.7(PMS2):c.941A>C (p.Asn314Thr)
|
|
|
NM_000535.7(PMS2):c.942T>A (p.Asn314Lys)
|
|
|
NM_000535.7(PMS2):c.943C>A (p.Arg315=)
|
|
|
NM_000535.7(PMS2):c.948C>A (p.His316Gln)
|
rs1219573982
|
|
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys)
|
rs143277125
|
|
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)
|
rs143277125
|
|
NM_000535.7(PMS2):c.94G>A (p.Val32Ile)
|
rs977251189
|
|
NM_000535.7(PMS2):c.94G>T (p.Val32Leu)
|
rs977251189
|
|
NM_000535.7(PMS2):c.950A>G (p.Gln317Arg)
|
rs537024768
|
|
NM_000535.7(PMS2):c.951G>A (p.Gln317=)
|
rs1783798592
|
|
NM_000535.7(PMS2):c.952T>C (p.Tyr318His)
|
|
|
NM_000535.7(PMS2):c.955C>A (p.Pro319Thr)
|
rs1248142939
|
|
NM_000535.7(PMS2):c.955C>T (p.Pro319Ser)
|
rs1248142939
|
|
NM_000535.7(PMS2):c.956C>T (p.Pro319Leu)
|
rs1562651380
|
|
NM_000535.7(PMS2):c.959T>G (p.Phe320Cys)
|
rs1060503121
|
|
NM_000535.7(PMS2):c.95T>C (p.Val32Ala)
|
|
|
NM_000535.7(PMS2):c.960T>A (p.Phe320Leu)
|
|
|
NM_000535.7(PMS2):c.960del (p.Phe320fs)
|
|
|
NM_000535.7(PMS2):c.965T>C (p.Val322Ala)
|
rs1554299392
|
|
NM_000535.7(PMS2):c.966T>C (p.Val322=)
|
|
|
NM_000535.7(PMS2):c.967C>G (p.Leu323Val)
|
rs1554299391
|
|
NM_000535.7(PMS2):c.967_969del (p.Leu323del)
|
|
|
NM_000535.7(PMS2):c.968T>G (p.Leu323Arg)
|
|
|
NM_000535.7(PMS2):c.96A>C (p.Val32=)
|
rs746089731
|
|
NM_000535.7(PMS2):c.96A>G (p.Val32=)
|
rs746089731
|
|
NM_000535.7(PMS2):c.970A>T (p.Asn324Tyr)
|
rs1562651233
|
|
NM_000535.7(PMS2):c.971A>C (p.Asn324Thr)
|
rs1554299388
|
|
NM_000535.7(PMS2):c.971A>G (p.Asn324Ser)
|
rs1554299388
|
|
NM_000535.7(PMS2):c.973A>G (p.Ile325Val)
|
|
|
NM_000535.7(PMS2):c.975T>G (p.Ile325Met)
|
rs1583344828
|
|
NM_000535.7(PMS2):c.977C>G (p.Ser326Cys)
|
rs2128755117
|
|
NM_000535.7(PMS2):c.977C>T (p.Ser326Phe)
|
|
|
NM_000535.7(PMS2):c.979G>A (p.Val327Ile)
|
rs1257825900
|
|
NM_000535.7(PMS2):c.97C>G (p.Leu33Val)
|
rs878854061
|
|
NM_000535.7(PMS2):c.97C>T (p.Leu33=)
|
rs878854061
|
|
NM_000535.7(PMS2):c.984T>C (p.Asp328=)
|
rs2128755014
|
|
NM_000535.7(PMS2):c.985T>A (p.Ser329Thr)
|
rs1583344749
|
|
NM_000535.7(PMS2):c.986C>G (p.Ser329Ter)
|
rs1461669945
|
|
NM_000535.7(PMS2):c.987A>G (p.Ser329=)
|
rs1783788450
|
|
NM_000535.7(PMS2):c.988+1G>C
|
rs757110564
|
|
NM_000535.7(PMS2):c.988+1G>T
|
rs757110564
|
|
NM_000535.7(PMS2):c.988+1del
|
rs876660075
|
|
NM_000535.7(PMS2):c.988+2T>C
|
|
|
NM_000535.7(PMS2):c.988+3A>C
|
rs751329878
|
|
NM_000535.7(PMS2):c.988+3A>G
|
rs751329878
|
|
NM_000535.7(PMS2):c.988G>C (p.Glu330Gln)
|
rs1370798039
|
|
NM_000535.7(PMS2):c.989-1G>T
|
rs587780064
|
|
NM_000535.7(PMS2):c.989-21_989-20del
|
rs745927005
|
|
NM_000535.7(PMS2):c.989-296_1144+706del
|
|
|
NM_000535.7(PMS2):c.989-2A>G
|
rs587779347
|
|
NM_000535.7(PMS2):c.989-3T>C
|
rs1156325177
|
|
NM_000535.7(PMS2):c.989-5C>G
|
|
|
NM_000535.7(PMS2):c.989-6C>T
|
rs1554298834
|
|
NM_000535.7(PMS2):c.989-8dup
|
rs1333503820
|
|
NM_000535.7(PMS2):c.989-9T>A
|
rs2128749159
|
|
NM_000535.7(PMS2):c.98T>G (p.Leu33Arg)
|
rs1554306467
|
|
NM_000535.7(PMS2):c.991T>C (p.Cys331Arg)
|
|
|
NM_000535.7(PMS2):c.991T>G (p.Cys331Gly)
|
rs1554298831
|
|
NM_000535.7(PMS2):c.992G>A (p.Cys331Tyr)
|
rs1184563006
|
|
NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)
|
|
|
NM_000535.7(PMS2):c.998A>C (p.Asp333Ala)
|
rs1187390273
|
|
NM_000535.7(PMS2):c.998A>T (p.Asp333Val)
|
rs1187390273
|
|
NM_000535.7(PMS2):c.999T>C (p.Asp333=)
|
|
|
NM_000535.7(PMS2):c.99G>A (p.Leu33=)
|
rs1562701736
|
|
NM_000535.7(PMS2):c.9A>T (p.Arg3=)
|
|
|