NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu)
|
rs2228006
|
0.86482
|
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.903+144G>T
|
rs12702462
|
0.15665
|
NM_000535.7(PMS2):c.1621= (p.Lys541=)
|
rs2228006
|
0.13518
|
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.1454C>A (p.Thr485Lys)
|
rs1805323
|
0.05742
|
NM_000535.7(PMS2):c.903+100T>G
|
rs12534423
|
0.04879
|
NM_000535.7(PMS2):c.903+84C>T
|
rs3815383
|
0.04877
|
NM_000535.7(PMS2):c.2175-117T>C
|
rs75973354
|
0.04731
|
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.251-72A>G
|
rs117831773
|
0.02449
|
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.2275+25C>T
|
rs184115126
|
0.01090
|
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=)
|
rs6972869
|
0.01065
|
NM_000535.7(PMS2):c.705+36C>T
|
rs111908557
|
0.01046
|
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.2445+30A>G
|
rs549704870
|
0.00490
|
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.2275+42T>C
|
rs181380255
|
0.00242
|
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.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.354-34C>G
|
rs200029834
|
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.988+11T>C
|
rs139969671
|
0.00032
|
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.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
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.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.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
NM_000535.7(PMS2):c.2276-10A>G
|
rs573900018
|
0.00010
|
NM_000535.7(PMS2):c.2445+14G>T
|
rs913201632
|
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.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.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
NM_000535.7(PMS2):c.164-48A>G
|
rs779666340
|
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.230A>C (p.Glu77Ala)
|
rs777095030
|
0.00007
|
NM_000535.7(PMS2):c.2446-45G>A
|
rs1017915874
|
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.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.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.944G>A (p.Arg315Gln)
|
rs116314131
|
0.00006
|
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_000535.6(PMS2):c.-37C>T
|
rs1027005255
|
0.00004
|
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.1288A>G (p.Thr430Ala)
|
rs587781382
|
0.00004
|
NM_000535.7(PMS2):c.13G>C (p.Glu5Gln)
|
rs372539944
|
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.1883G>A (p.Arg628Gln)
|
rs587780044
|
0.00004
|
NM_000535.7(PMS2):c.1936A>C (p.Arg646=)
|
rs369582237
|
0.00004
|
NM_000535.7(PMS2):c.2049C>T (p.Asn683=)
|
rs752950007
|
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.24-43A>G
|
rs367977895
|
0.00004
|
NM_000535.7(PMS2):c.2446-26G>A
|
rs1454211746
|
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.475G>A (p.Val159Met)
|
rs142416537
|
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.706-7T>A
|
rs1459714978
|
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.961G>A (p.Val321Ile)
|
rs377043696
|
0.00004
|
NM_000535.7(PMS2):c.-27C>A
|
rs774137874
|
0.00003
|
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.1438G>A (p.Gly480Arg)
|
rs146848345
|
0.00003
|
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr)
|
rs63750686
|
0.00003
|
NM_000535.7(PMS2):c.1668A>G (p.Glu556=)
|
rs876659780
|
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.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.2275+45C>T
|
rs754969553
|
0.00003
|
NM_000535.7(PMS2):c.23+19C>G
|
rs756178012
|
0.00003
|
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser)
|
rs864622274
|
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.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.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.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.1080A>G (p.Ile360Met)
|
rs567102013
|
0.00002
|
NM_000535.7(PMS2):c.1170G>A (p.Ala390=)
|
rs755578413
|
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.1480T>G (p.Ser494Ala)
|
rs587782500
|
0.00002
|
NM_000535.7(PMS2):c.1539T>C (p.Ser513=)
|
rs786202950
|
0.00002
|
NM_000535.7(PMS2):c.1629C>T (p.Asp543=)
|
rs111673299
|
0.00002
|
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys)
|
rs778531080
|
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.23+17G>A
|
rs780132980
|
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.378C>T (p.His126=)
|
rs768488890
|
0.00002
|
NM_000535.7(PMS2):c.537+9A>G
|
rs759013264
|
0.00002
|
NM_000535.7(PMS2):c.598G>A (p.Val200Ile)
|
rs587778620
|
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.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.*14A>G
|
rs1057520349
|
0.00001
|
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.1058C>T (p.Ala353Val)
|
rs543676323
|
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.1113T>C (p.Asn371=)
|
rs989130272
|
0.00001
|
NM_000535.7(PMS2):c.1126C>T (p.Pro376Ser)
|
rs730881911
|
0.00001
|
NM_000535.7(PMS2):c.1144+20C>T
|
rs750883624
|
0.00001
|
NM_000535.7(PMS2):c.114G>A (p.Ala38=)
|
rs558032755
|
0.00001
|
NM_000535.7(PMS2):c.1167A>G (p.Ala389=)
|
rs748920792
|
0.00001
|
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr)
|
rs370752614
|
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.1305C>T (p.His435=)
|
rs763954903
|
0.00001
|
NM_000535.7(PMS2):c.1344A>T (p.Gly448=)
|
rs759192470
|
0.00001
|
NM_000535.7(PMS2):c.1360C>T (p.Leu454=)
|
rs1338448094
|
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.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.1420G>T (p.Ala474Ser)
|
rs373114291
|
0.00001
|
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val)
|
rs587779328
|
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.1515G>A (p.Gly505=)
|
rs753856135
|
0.00001
|
NM_000535.7(PMS2):c.1587G>A (p.Ser529=)
|
rs786201709
|
0.00001
|
NM_000535.7(PMS2):c.1602C>G (p.Asp534Glu)
|
rs1554297497
|
0.00001
|
NM_000535.7(PMS2):c.1630G>A (p.Asp544Asn)
|
rs876660139
|
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.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.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.1760G>A (p.Ser587Asn)
|
rs762100304
|
0.00001
|
NM_000535.7(PMS2):c.1765G>C (p.Asp589His)
|
rs749727182
|
0.00001
|
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg)
|
rs760629688
|
0.00001
|
NM_000535.7(PMS2):c.2000A>C (p.Glu667Ala)
|
rs1404270894
|
0.00001
|
NM_000535.7(PMS2):c.2007-9T>C
|
rs1194759833
|
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.2036T>C (p.Ile679Thr)
|
rs778251286
|
0.00001
|
NM_000535.7(PMS2):c.2081A>T (p.Asp694Val)
|
rs1554295876
|
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.2174+39A>G
|
rs760327865
|
0.00001
|
NM_000535.7(PMS2):c.2175-9G>A
|
rs1057522324
|
0.00001
|
NM_000535.7(PMS2):c.2265C>T (p.Ile755=)
|
rs145646046
|
0.00001
|
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys)
|
rs751235177
|
0.00001
|
NM_000535.7(PMS2):c.23+6C>A
|
rs779104357
|
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.2346C>T (p.Asp782=)
|
rs139031103
|
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.2386G>A (p.Val796Ile)
|
rs368737800
|
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.241G>A (p.Glu81Lys)
|
rs730881919
|
0.00001
|
NM_000535.7(PMS2):c.243A>G (p.Glu81=)
|
rs1057521802
|
0.00001
|
NM_000535.7(PMS2):c.2446-18A>G
|
rs1057522313
|
0.00001
|
NM_000535.7(PMS2):c.244G>A (p.Gly82Ser)
|
rs754191682
|
0.00001
|
NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys)
|
rs587782828
|
0.00001
|
NM_000535.7(PMS2):c.251-12A>C
|
rs562762722
|
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.27A>C (p.Thr9=)
|
rs1060504842
|
0.00001
|
NM_000535.7(PMS2):c.289G>A (p.Asp97Asn)
|
rs1395998044
|
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.353+3G>A
|
rs766373982
|
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.403C>G (p.Leu135Val)
|
rs876658423
|
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.46A>G (p.Lys16Glu)
|
rs777845808
|
0.00001
|
NM_000535.7(PMS2):c.537+17C>T
|
rs548285941
|
0.00001
|
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser)
|
rs779946576
|
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.653G>A (p.Gly218Asp)
|
rs368043334
|
0.00001
|
NM_000535.7(PMS2):c.667A>G (p.Ile223Val)
|
rs876660067
|
0.00001
|
NM_000535.7(PMS2):c.705+10G>A
|
rs770203880
|
0.00001
|
NM_000535.7(PMS2):c.706-48T>C
|
rs765707036
|
0.00001
|
NM_000535.7(PMS2):c.711A>G (p.Gln237=)
|
rs368608818
|
0.00001
|
NM_000535.7(PMS2):c.740C>G (p.Pro247Arg)
|
rs1173245928
|
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.778T>A (p.Ser260Thr)
|
rs1259974071
|
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+22G>C
|
rs775392039
|
0.00001
|
NM_000535.7(PMS2):c.803+9A>G
|
rs1784516917
|
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.87G>A (p.Gly29=)
|
rs876659642
|
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.934A>G (p.Met312Val)
|
rs786202567
|
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.989-14C>A
|
rs1554298839
|
0.00001
|
NC_000007.13:g.(6018328_6022454)_(6048681_?)dup
|
|
|
NC_000007.13:g.(6022623_6026521)_(6026546_6026958)dup
|
|
|
NC_000007.13:g.(?_6010555)_(6027252_6029430)dup
|
|
|
NC_000007.13:g.(?_6010555)_(6048738_?)dup
|
|
|
NM_000535.6(PMS2):c.-33C>A
|
rs562800874
|
|
NM_000535.6(PMS2):c.-49C>T
|
rs952806552
|
|
NM_000535.6(PMS2):c.-50G>T
|
rs557908122
|
|
NM_000535.6(PMS2):c.-77delA
|
rs1057524913
|
|
NM_000535.7(PMS2):c.*2C>T
|
rs764124442
|
|
NM_000535.7(PMS2):c.*3G>A
|
rs776493195
|
|
NM_000535.7(PMS2):c.*8C>T
|
|
|
NM_000535.7(PMS2):c.-1C>T
|
rs369681753
|
|
NM_000535.7(PMS2):c.-24C>G
|
rs748909615
|
|
NM_000535.7(PMS2):c.-25C>G
|
|
|
NM_000535.7(PMS2):c.-29G>A
|
rs1057520893
|
|
NM_000535.7(PMS2):c.-30A>C
|
rs761498916
|
|
NM_000535.7(PMS2):c.-3T>G
|
|
|
NM_000535.7(PMS2):c.1004A>T (p.Asn335Ile)
|
rs200513014
|
|
NM_000535.7(PMS2):c.1005T>C (p.Asn335=)
|
rs1057523266
|
|
NM_000535.7(PMS2):c.1008T>G (p.Val336=)
|
rs1057521429
|
|
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.1040A>G (p.Glu347Gly)
|
rs878854031
|
|
NM_000535.7(PMS2):c.1044A>G (p.Glu348=)
|
rs1554298767
|
|
NM_000535.7(PMS2):c.1059A>G (p.Ala353=)
|
rs876660930
|
|
NM_000535.7(PMS2):c.1092T>C (p.Asp364=)
|
rs370066853
|
|
NM_000535.7(PMS2):c.1098T>G (p.Asp366Glu)
|
|
|
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile)
|
rs746889239
|
|
NM_000535.7(PMS2):c.1104C>T (p.Asn368=)
|
rs1554298686
|
|
NM_000535.7(PMS2):c.1121AGC[1] (p.Gln375del)
|
rs1583334101
|
|
NM_000535.7(PMS2):c.1131G>A (p.Leu377=)
|
rs1064794687
|
|
NM_000535.7(PMS2):c.1145-10G>T
|
rs533551639
|
|
NM_000535.7(PMS2):c.1145-16G>T
|
rs576825560
|
|
NM_000535.7(PMS2):c.1145-17delinsGGAG
|
rs1562637330
|
|
NM_000535.7(PMS2):c.1145-20C>T
|
rs1057524098
|
|
NM_000535.7(PMS2):c.1185C>T (p.Pro395=)
|
rs1562636721
|
|
NM_000535.7(PMS2):c.1188G>C (p.Met396Ile)
|
rs1170825702
|
|
NM_000535.7(PMS2):c.1191A>G (p.Val397=)
|
rs864622595
|
|
NM_000535.7(PMS2):c.1203T>C (p.Asp401=)
|
rs1057522327
|
|
NM_000535.7(PMS2):c.1209C>T (p.Ser403=)
|
rs147399413
|
|
NM_000535.7(PMS2):c.1214C>T (p.Ser405Leu)
|
rs1554298036
|
|
NM_000535.7(PMS2):c.1215A>C (p.Ser405=)
|
rs1554298028
|
|
NM_000535.7(PMS2):c.1224T>C (p.Thr408=)
|
rs1554298007
|
|
NM_000535.7(PMS2):c.1231_1232delinsTT (p.Glu411Leu)
|
rs786202871
|
|
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu)
|
rs587778616
|
|
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.1249A>C (p.Ile417Leu)
|
rs1060503132
|
|
NM_000535.7(PMS2):c.1251T>C (p.Ile417=)
|
rs1057521136
|
|
NM_000535.7(PMS2):c.1259T>C (p.Leu420Pro)
|
rs747495075
|
|
NM_000535.7(PMS2):c.1267G>A (p.Ala423Thr)
|
rs587778619
|
|
NM_000535.7(PMS2):c.1269C>A (p.Ala423=)
|
rs921253631
|
|
NM_000535.7(PMS2):c.1269C>G (p.Ala423=)
|
rs921253631
|
|
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.127G>A (p.Val43Ile)
|
rs587780042
|
|
NM_000535.7(PMS2):c.1294A>G (p.Asn432Asp)
|
rs1783144549
|
|
NM_000535.7(PMS2):c.1304A>C (p.His435Pro)
|
rs1554297915
|
|
NM_000535.7(PMS2):c.1306A>G (p.Ser436Gly)
|
rs1583321782
|
|
NM_000535.7(PMS2):c.1329A>T (p.Arg443Ser)
|
rs192720342
|
|
NM_000535.7(PMS2):c.1332G>A (p.Arg444=)
|
rs1554297874
|
|
NM_000535.7(PMS2):c.1338T>C (p.Pro446=)
|
rs786203033
|
|
NM_000535.7(PMS2):c.134A>G (p.Asn45Ser)
|
rs1554306353
|
|
NM_000535.7(PMS2):c.1350A>G (p.Lys450=)
|
rs1057521836
|
|
NM_000535.7(PMS2):c.1354G>A (p.Gly452Ser)
|
rs569947936
|
|
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser)
|
rs587778615
|
|
NM_000535.7(PMS2):c.1378G>C (p.Gly460Arg)
|
rs1554297825
|
|
NM_000535.7(PMS2):c.1389T>C (p.Ser463=)
|
rs1554297811
|
|
NM_000535.7(PMS2):c.1401C>G (p.Val467=)
|
rs1554297788
|
|
NM_000535.7(PMS2):c.1422A>C (p.Ala474=)
|
rs1057522125
|
|
NM_000535.7(PMS2):c.142G>A (p.Asp48Asn)
|
rs755665894
|
|
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.1439G>C (p.Gly480Ala)
|
rs373917897
|
|
NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys)
|
rs876660060
|
|
NM_000535.7(PMS2):c.1476G>A (p.Lys492=)
|
rs766309532
|
|
NM_000535.7(PMS2):c.1482G>A (p.Ser494=)
|
rs864622398
|
|
NM_000535.7(PMS2):c.1507T>G (p.Ser503Ala)
|
rs864622497
|
|
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly)
|
rs1254121331
|
|
NM_000535.7(PMS2):c.1533G>T (p.Thr511=)
|
rs542520309
|
|
NM_000535.7(PMS2):c.1536C>T (p.Gly512=)
|
rs1057523150
|
|
NM_000535.7(PMS2):c.1540C>T (p.His514Tyr)
|
rs878854036
|
|
NM_000535.7(PMS2):c.1543T>C (p.Cys515Arg)
|
rs1554297603
|
|
NM_000535.7(PMS2):c.1545C>T (p.Cys515=)
|
rs1057520347
|
|
NM_000535.7(PMS2):c.1556_1559del (p.Tyr519fs)
|
rs876661003
|
|
NM_000535.7(PMS2):c.1569C>T (p.Ser523=)
|
rs141458772
|
|
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn)
|
rs63750686
|
|
NM_000535.7(PMS2):c.1617G>A (p.Ala539=)
|
rs776931237
|
|
NM_000535.7(PMS2):c.163+44TGT[2]
|
|
|
NM_000535.7(PMS2):c.1631A>T (p.Asp544Val)
|
rs1562629531
|
|
NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys)
|
rs557906137
|
|
NM_000535.7(PMS2):c.164-15T>C
|
rs1057522853
|
|
NM_000535.7(PMS2):c.164-38C>T
|
|
|
NM_000535.7(PMS2):c.164-43G>C
|
rs2128831315
|
|
NM_000535.7(PMS2):c.1645G>A (p.Val549Met)
|
rs1199136734
|
|
NM_000535.7(PMS2):c.166C>A (p.Leu56Ile)
|
rs371011390
|
|
NM_000535.7(PMS2):c.1671T>C (p.Asp557=)
|
rs1554297386
|
|
NM_000535.7(PMS2):c.1673C>G (p.Thr558Ser)
|
|
|
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.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.1689_1690del (p.Val564fs)
|
rs876661004
|
|
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg)
|
rs869312801
|
|
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer)
|
rs1060503126
|
|
NM_000535.7(PMS2):c.1731G>A (p.Lys577=)
|
rs1057523469
|
|
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.1760G>C (p.Ser587Thr)
|
|
|
NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile)
|
rs762100304
|
|
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)
|
rs764252217
|
|
NM_000535.7(PMS2):c.1812G>A (p.Gln604=)
|
rs63750788
|
|
NM_000535.7(PMS2):c.1821A>G (p.Val607=)
|
rs1554297205
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
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.1851C>T (p.Pro617=)
|
rs1554297171
|
|
NM_000535.7(PMS2):c.1860T>C (p.Phe620=)
|
rs1583314594
|
|
NM_000535.7(PMS2):c.1874T>C (p.Leu625Ser)
|
rs63750835
|
|
NM_000535.7(PMS2):c.1888A>G (p.Lys630Glu)
|
rs2128721764
|
|
NM_000535.7(PMS2):c.1893G>A (p.Gln631=)
|
rs1057524687
|
|
NM_000535.7(PMS2):c.189G>A (p.Val63=)
|
rs786203074
|
|
NM_000535.7(PMS2):c.1902T>C (p.His634=)
|
rs376335675
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.1942T>G (p.Phe648Val)
|
rs1782931972
|
|
NM_000535.7(PMS2):c.1977A>G (p.Ala659=)
|
rs1057522418
|
|
NM_000535.7(PMS2):c.2003T>G (p.Ile668Arg)
|
rs1562624877
|
|
NM_000535.7(PMS2):c.2006+16T>C
|
rs1554297038
|
|
NM_000535.7(PMS2):c.2006+67del
|
rs1159879425
|
|
NM_000535.7(PMS2):c.2007-11dup
|
rs1554295996
|
|
NM_000535.7(PMS2):c.2007-16C>T
|
rs587781111
|
|
NM_000535.7(PMS2):c.2007-19T>C
|
rs1554295999
|
|
NM_000535.7(PMS2):c.2007-41A>G
|
|
|
NM_000535.7(PMS2):c.2007-43T>C
|
|
|
NM_000535.7(PMS2):c.2007-44A>C
|
rs2128705373
|
|
NM_000535.7(PMS2):c.2007-6C>G
|
rs376018314
|
|
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu)
|
rs1554295980
|
|
NM_000535.7(PMS2):c.2017T>C (p.Phe673Leu)
|
rs1562616167
|
|
NM_000535.7(PMS2):c.2025A>G (p.Glu675=)
|
rs1057522947
|
|
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu)
|
rs878854041
|
|
NM_000535.7(PMS2):c.2039G>C (p.Gly680Ala)
|
|
|
NM_000535.7(PMS2):c.203T>C (p.Val68Ala)
|
|
|
NM_000535.7(PMS2):c.2049C>G (p.Asn683Lys)
|
rs752950007
|
|
NM_000535.7(PMS2):c.2076T>C (p.Asn692=)
|
rs1554295887
|
|
NM_000535.7(PMS2):c.2085C>T (p.Ile695=)
|
rs757157176
|
|
NM_000535.7(PMS2):c.2089A>C (p.Ile697Leu)
|
rs1554295859
|
|
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.2112C>A (p.Asp704Glu)
|
rs764735061
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser)
|
rs587780049
|
|
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg)
|
rs587782559
|
|
NM_000535.7(PMS2):c.2160G>A (p.Gly720=)
|
rs546441038
|
|
NM_000535.7(PMS2):c.2160G>C (p.Gly720=)
|
rs546441038
|
|
NM_000535.7(PMS2):c.2165G>A (p.Arg722Lys)
|
|
|
NM_000535.7(PMS2):c.2166G>A (p.Arg722=)
|
rs863224367
|
|
NM_000535.7(PMS2):c.2172A>G (p.Ile724Met)
|
rs1562614497
|
|
NM_000535.7(PMS2):c.2174+3G>C
|
rs1400193171
|
|
NM_000535.7(PMS2):c.2175-65_2175-61del
|
rs1417472000
|
|
NM_000535.7(PMS2):c.2175A>T (p.Ala725=)
|
rs769116749
|
|
NM_000535.7(PMS2):c.2185C>G (p.Leu729Val)
|
rs1554294503
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.218G>A (p.Cys73Tyr)
|
rs1326865470
|
|
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.2212G>C (p.Val738Leu)
|
rs758225108
|
|
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe)
|
rs758225108
|
|
NM_000535.7(PMS2):c.2217G>C (p.Leu739=)
|
rs752718686
|
|
NM_000535.7(PMS2):c.2219T>C (p.Ile740Thr)
|
rs1554294462
|
|
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn)
|
rs762206330
|
|
NM_000535.7(PMS2):c.2274T>C (p.Asn758=)
|
rs1554294398
|
|
NM_000535.7(PMS2):c.2275+46G>A
|
|
|
NM_000535.7(PMS2):c.2275+8A>G
|
rs878854046
|
|
NM_000535.7(PMS2):c.2276-17A>G
|
rs1057523755
|
|
NM_000535.7(PMS2):c.2276-4T>C
|
rs1562602173
|
|
NM_000535.7(PMS2):c.2276-8T>C
|
|
|
NM_000535.7(PMS2):c.2281G>A (p.Val761Ile)
|
rs201914670
|
|
NM_000535.7(PMS2):c.23+19C>T
|
rs756178012
|
|
NM_000535.7(PMS2):c.23+31C>T
|
|
|
NM_000535.7(PMS2):c.23+3G>T
|
rs1408475000
|
|
NM_000535.7(PMS2):c.23+7G>A
|
rs878854047
|
|
NM_000535.7(PMS2):c.23+7G>T
|
rs878854047
|
|
NM_000535.7(PMS2):c.2301G>A (p.Leu767=)
|
rs1554293987
|
|
NM_000535.7(PMS2):c.2310G>T (p.Leu770Phe)
|
rs1583281360
|
|
NM_000535.7(PMS2):c.2317A>G (p.Ser773Gly)
|
rs587781489
|
|
NM_000535.7(PMS2):c.2330C>T (p.Thr777Ile)
|
rs777728316
|
|
NM_000535.7(PMS2):c.2343G>A (p.Gln781=)
|
rs786202531
|
|
NM_000535.7(PMS2):c.2367G>A (p.Met789Ile)
|
rs766565506
|
|
NM_000535.7(PMS2):c.2373C>A (p.Ser791Arg)
|
rs864622765
|
|
NM_000535.7(PMS2):c.2378G>T (p.Ser793Ile)
|
|
|
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.2382T>C (p.Pro794=)
|
rs1057521269
|
|
NM_000535.7(PMS2):c.2385G>A (p.Gly795=)
|
rs372868520
|
|
NM_000535.7(PMS2):c.2388C>T (p.Val796=)
|
rs876660875
|
|
NM_000535.7(PMS2):c.24-11G>A
|
rs1554306632
|
|
NM_000535.7(PMS2):c.24-12_24-11del
|
rs1554306636
|
|
NM_000535.7(PMS2):c.24-18_24-16del
|
rs1064795573
|
|
NM_000535.7(PMS2):c.2418G>A (p.Met806Ile)
|
rs786203096
|
|
NM_000535.7(PMS2):c.2432C>T (p.Ala811Val)
|
rs1387206284
|
|
NM_000535.7(PMS2):c.2437C>G (p.Arg813Gly)
|
rs375968016
|
|
NM_000535.7(PMS2):c.2442G>A (p.Lys814=)
|
rs1554293745
|
|
NM_000535.7(PMS2):c.2445+13A>T
|
rs1057522244
|
|
NM_000535.7(PMS2):c.2445+14G>A
|
rs913201632
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
|
NM_000535.7(PMS2):c.2445+29C>T
|
|
|
NM_000535.7(PMS2):c.2445+8A>G
|
rs1057522180
|
|
NM_000535.7(PMS2):c.2445+9A>G
|
rs1562600132
|
|
NM_000535.7(PMS2):c.2445+9del
|
rs1064793472
|
|
NM_000535.7(PMS2):c.2446-19C>T
|
rs1390101876
|
|
NM_000535.7(PMS2):c.2446-5C>G
|
rs864622279
|
|
NM_000535.7(PMS2):c.2446-6A>G
|
rs1554292905
|
|
NM_000535.7(PMS2):c.2452A>G (p.Ile818Val)
|
|
|
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.2475C>T (p.Ser825=)
|
rs776460258
|
|
NM_000535.7(PMS2):c.2489dup (p.Ile831fs)
|
|
|
NM_000535.7(PMS2):c.250+12T>C
|
rs1057523757
|
|
NM_000535.7(PMS2):c.250+16C>G
|
rs1554304924
|
|
NM_000535.7(PMS2):c.250+17T>G
|
rs1057524040
|
|
NM_000535.7(PMS2):c.250+5G>C
|
rs1458809226
|
|
NM_000535.7(PMS2):c.250+8G>A
|
rs1057520511
|
|
NM_000535.7(PMS2):c.2503G>T (p.Gly835Trp)
|
|
|
NM_000535.7(PMS2):c.2506G>C (p.Glu836Gln)
|
|
|
NM_000535.7(PMS2):c.251-11CT[2]
|
|
|
NM_000535.7(PMS2):c.251-18C>T
|
rs766811365
|
|
NM_000535.7(PMS2):c.251-33A>C
|
|
|
NM_000535.7(PMS2):c.251-34G>A
|
|
|
NM_000535.7(PMS2):c.2538A>G (p.Gly846=)
|
rs863224368
|
|
NM_000535.7(PMS2):c.2541G>T (p.Arg847Ser)
|
rs2128657332
|
|
NM_000535.7(PMS2):c.2543C>T (p.Pro848Leu)
|
rs786201850
|
|
NM_000535.7(PMS2):c.2559C>T (p.Ile853=)
|
rs371673459
|
|
NM_000535.7(PMS2):c.2565C>T (p.Asn855=)
|
rs864622494
|
|
NM_000535.7(PMS2):c.2566C>T (p.Leu856=)
|
rs1421089696
|
|
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.311T>C (p.Phe104Ser)
|
rs876660295
|
|
NM_000535.7(PMS2):c.321G>A (p.Arg107=)
|
rs756420858
|
|
NM_000535.7(PMS2):c.321G>T (p.Arg107=)
|
rs756420858
|
|
NM_000535.7(PMS2):c.324G>A (p.Gly108=)
|
rs1057522330
|
|
NM_000535.7(PMS2):c.32C>T (p.Pro11Leu)
|
rs1291217267
|
|
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.354-19G>A
|
rs888344650
|
|
NM_000535.7(PMS2):c.356A>G (p.Asp119Gly)
|
rs2128819431
|
|
NM_000535.7(PMS2):c.372C>G (p.Thr124=)
|
rs1060504836
|
|
NM_000535.7(PMS2):c.384G>T (p.Ser128=)
|
rs371342884
|
|
NM_000535.7(PMS2):c.387G>A (p.Ala129=)
|
rs876658275
|
|
NM_000535.7(PMS2):c.411T>C (p.Phe137=)
|
rs1785222735
|
|
NM_000535.7(PMS2):c.426A>C (p.Lys142Asn)
|
rs1785218841
|
|
NM_000535.7(PMS2):c.447C>T (p.Tyr149=)
|
rs1224505288
|
|
NM_000535.7(PMS2):c.468A>T (p.Thr156=)
|
rs1364918195
|
|
NM_000535.7(PMS2):c.475G>T (p.Val159Leu)
|
rs142416537
|
|
NM_000535.7(PMS2):c.479A>C (p.Gln160Pro)
|
rs1554303922
|
|
NM_000535.7(PMS2):c.495A>G (p.Thr165=)
|
rs1057520513
|
|
NM_000535.7(PMS2):c.524G>T (p.Arg175Met)
|
rs1562688735
|
|
NM_000535.7(PMS2):c.531T>G (p.Ile177Met)
|
rs863224679
|
|
NM_000535.7(PMS2):c.537+16C>T
|
rs1057521052
|
|
NM_000535.7(PMS2):c.537+37T>C
|
|
|
NM_000535.7(PMS2):c.538-12dup
|
rs1455766004
|
|
NM_000535.7(PMS2):c.538-15G>C
|
rs1554302558
|
|
NM_000535.7(PMS2):c.538-19G>C
|
rs1057521526
|
|
NM_000535.7(PMS2):c.538-53_538-42dup
|
rs775465039
|
|
NM_000535.7(PMS2):c.555C>G (p.Val185=)
|
rs759078497
|
|
NM_000535.7(PMS2):c.566A>C (p.His189Pro)
|
rs876660330
|
|
NM_000535.7(PMS2):c.576T>C (p.Cys192=)
|
rs1554302497
|
|
NM_000535.7(PMS2):c.593T>C (p.Ile198Thr)
|
rs2128801302
|
|
NM_000535.7(PMS2):c.652G>A (p.Gly218Ser)
|
rs878854055
|
|
NM_000535.7(PMS2):c.659G>T (p.Ser220Ile)
|
rs769967916
|
|
NM_000535.7(PMS2):c.662C>G (p.Pro221Arg)
|
rs878854056
|
|
NM_000535.7(PMS2):c.672G>A (p.Lys224=)
|
rs748141595
|
|
NM_000535.7(PMS2):c.684C>T (p.Gly228=)
|
rs371876208
|
|
NM_000535.7(PMS2):c.690G>C (p.Val230=)
|
rs749871098
|
|
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu)
|
rs201811667
|
|
NM_000535.7(PMS2):c.697C>G (p.Gln233Glu)
|
rs587779343
|
|
NM_000535.7(PMS2):c.705+13G>C
|
rs776790763
|
|
NM_000535.7(PMS2):c.706-14T>A
|
rs1057523232
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-5_706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-5_706-4dup
|
|
|
NM_000535.7(PMS2):c.706-6T>C
|
rs2128788984
|
|
NM_000535.7(PMS2):c.706-6_706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-7_706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)
|
rs201395630
|
|
NM_000535.7(PMS2):c.730C>G (p.Gln244Glu)
|
rs1562671039
|
|
NM_000535.7(PMS2):c.753G>A (p.Val251=)
|
rs762836049
|
|
NM_000535.7(PMS2):c.75G>A (p.Gln25=)
|
rs1554306525
|
|
NM_000535.7(PMS2):c.774_776del (p.Cys259del)
|
|
|
NM_000535.7(PMS2):c.774_777delinsA (p.Ser258_Cys259delinsArg)
|
|
|
NM_000535.7(PMS2):c.774_778delinsTA (p.Cys259_Ser260delinsThr)
|
rs1784525754
|
|
NM_000535.7(PMS2):c.779_780inv (p.Ser260Trp)
|
|
|
NM_000535.7(PMS2):c.780C>A (p.Ser260=)
|
rs1805319
|
|
NM_000535.7(PMS2):c.787C>G (p.Leu263Val)
|
rs587779345
|
|
NM_000535.7(PMS2):c.789G>A (p.Leu263=)
|
rs755394319
|
|
NM_000535.7(PMS2):c.789G>C (p.Leu263=)
|
|
|
NM_000535.7(PMS2):c.7C>A (p.Arg3=)
|
rs763939668
|
|
NM_000535.7(PMS2):c.803+11T>C
|
rs767551713
|
|
NM_000535.7(PMS2):c.803+11dup
|
rs1554301378
|
|
NM_000535.7(PMS2):c.803+7A>G
|
rs1562669544
|
|
NM_000535.7(PMS2):c.804-21T>C
|
rs1481725459
|
|
NM_000535.7(PMS2):c.817A>G (p.Ile273Val)
|
rs587778621
|
|
NM_000535.7(PMS2):c.824A>G (p.Gln275Arg)
|
rs546966892
|
|
NM_000535.7(PMS2):c.827G>A (p.Cys276Tyr)
|
rs1554300806
|
|
NM_000535.7(PMS2):c.828C>T (p.Cys276=)
|
rs757324104
|
|
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys)
|
rs1805322
|
|
NM_000535.7(PMS2):c.830C>T (p.Thr277Met)
|
rs1805322
|
|
NM_000535.7(PMS2):c.833A>G (p.His278Arg)
|
rs1562664434
|
|
NM_000535.7(PMS2):c.851C>T (p.Ser284Leu)
|
rs587782898
|
|
NM_000535.7(PMS2):c.855A>G (p.Thr285=)
|
rs1554300771
|
|
NM_000535.7(PMS2):c.869T>C (p.Phe290Ser)
|
rs1031512870
|
|
NM_000535.7(PMS2):c.896C>T (p.Pro299Leu)
|
rs1402108044
|
|
NM_000535.7(PMS2):c.903+11T>A
|
rs766296823
|
|
NM_000535.7(PMS2):c.903+23A>G
|
|
|
NM_000535.7(PMS2):c.904-17_904-15del
|
rs749482906
|
|
NM_000535.7(PMS2):c.904-19C>T
|
rs1057522355
|
|
NM_000535.7(PMS2):c.904-25T>G
|
|
|
NM_000535.7(PMS2):c.917T>A (p.Val306Glu)
|
rs786201878
|
|
NM_000535.7(PMS2):c.922G>A (p.Glu308Lys)
|
rs587781358
|
|
NM_000535.7(PMS2):c.929A>T (p.Tyr310Phe)
|
rs372172981
|
|
NM_000535.7(PMS2):c.933C>T (p.His311=)
|
rs1057521069
|
|
NM_000535.7(PMS2):c.935T>C (p.Met312Thr)
|
rs530021751
|
|
NM_000535.7(PMS2):c.950A>G (p.Gln317Arg)
|
rs537024768
|
|
NM_000535.7(PMS2):c.989-21_989-20del
|
rs745927005
|
|
NM_000535.7(PMS2):c.989-8dup
|
rs1333503820
|
|
NM_000535.7(PMS2):c.[1556A>G;1559C>T1567T>A]
|
|
|