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.538-223A>G
|
rs2345060
|
0.21434
|
NM_000535.5(PMS2):c.-154C>G
|
rs3735296
|
0.16495
|
NM_000535.7(PMS2):c.804-243G>A
|
rs2286680
|
0.16082
|
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_000535.5(PMS2):c.-195T>C
|
rs2302336
|
0.04915
|
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.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.2182A>G (p.Thr728Ala)
|
rs141893001
|
0.00203
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_000535.7(PMS2):c.2340C>T (p.Pro780=)
|
rs142230276
|
0.00117
|
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu)
|
rs200313585
|
0.00088
|
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.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
NM_000535.7(PMS2):c.1560G>A (p.Ala520=)
|
rs201167814
|
0.00039
|
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.1242C>T (p.Asp414=)
|
rs142839559
|
0.00025
|
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)
|
rs17420802
|
0.00025
|
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.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.255G>A (p.Leu85=)
|
rs200491279
|
0.00013
|
NM_000535.7(PMS2):c.1320A>G (p.Pro440=)
|
rs138697590
|
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.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.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.735G>T (p.Leu245=)
|
rs373366661
|
0.00008
|
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp)
|
rs530993704
|
0.00008
|
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)
|
rs63751211
|
0.00007
|
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala)
|
rs777095030
|
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.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.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.632G>A (p.Arg211Gln)
|
rs587781934
|
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.71A>C (p.His24Pro)
|
rs139233015
|
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.13G>C (p.Glu5Gln)
|
rs372539944
|
0.00004
|
NM_000535.7(PMS2):c.1489G>A (p.Gly497Ser)
|
rs749826312
|
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.2347G>A (p.Val783Ile)
|
rs553286217
|
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.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.1041G>A (p.Glu347=)
|
rs150515238
|
0.00003
|
NM_000535.7(PMS2):c.1096G>C (p.Asp366His)
|
rs141769057
|
0.00003
|
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg)
|
rs146848345
|
0.00003
|
NM_000535.7(PMS2):c.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.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.2113G>A (p.Glu705Lys)
|
rs267608161
|
0.00003
|
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser)
|
rs864622274
|
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.88C>A (p.Gln30Lys)
|
rs141577476
|
0.00003
|
NM_000535.7(PMS2):c.903+4T>A
|
rs753803330
|
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.113C>T (p.Ala38Val)
|
rs148270248
|
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.149G>A (p.Gly50Asp)
|
rs539285592
|
0.00002
|
NM_000535.7(PMS2):c.1629C>T (p.Asp543=)
|
rs111673299
|
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.2174C>T (p.Ala725Val)
|
rs150630090
|
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.2444C>T (p.Ser815Leu)
|
rs587779338
|
0.00002
|
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser)
|
rs767775907
|
0.00002
|
NM_000535.7(PMS2):c.433C>A (p.Gln145Lys)
|
rs786204133
|
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.852A>G (p.Ser284=)
|
rs766177007
|
0.00002
|
NM_000535.7(PMS2):c.964G>A (p.Val322Ile)
|
rs587782208
|
0.00002
|
NM_000535.7(PMS2):c.989A>G (p.Glu330Gly)
|
rs761913816
|
0.00002
|
NM_000535.7(PMS2):c.-13G>C
|
rs747488315
|
0.00001
|
NM_000535.7(PMS2):c.-6G>A
|
rs1260600705
|
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.1092T>A (p.Asp364Glu)
|
rs370066853
|
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.1134G>T (p.Leu378=)
|
rs754576828
|
0.00001
|
NM_000535.7(PMS2):c.1136A>T (p.Asp379Val)
|
rs536031711
|
0.00001
|
NM_000535.7(PMS2):c.1144+1G>A
|
rs373885654
|
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.1186A>G (p.Met396Val)
|
rs863224675
|
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.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.1264G>A (p.Glu422Lys)
|
rs587782175
|
0.00001
|
NM_000535.7(PMS2):c.1267G>T (p.Ala423Ser)
|
rs587778619
|
0.00001
|
NM_000535.7(PMS2):c.1297A>G (p.Lys433Glu)
|
rs863224496
|
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.1361T>C (p.Leu454Pro)
|
rs772659239
|
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.1398C>T (p.Gly466=)
|
rs752666485
|
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.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.1481C>T (p.Ser494Leu)
|
rs587782602
|
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.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.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.1624A>C (p.Thr542Pro)
|
rs1425816147
|
0.00001
|
NM_000535.7(PMS2):c.163+4A>G
|
rs864622749
|
0.00001
|
NM_000535.7(PMS2):c.1674C>T (p.Thr558=)
|
rs876658134
|
0.00001
|
NM_000535.7(PMS2):c.1682A>C (p.Lys561Thr)
|
rs876658481
|
0.00001
|
NM_000535.7(PMS2):c.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.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.1765G>C (p.Asp589His)
|
rs749727182
|
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.1927C>T (p.Gln643Ter)
|
rs63751422
|
0.00001
|
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg)
|
rs760629688
|
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.1963G>A (p.Gly655Arg)
|
rs1064793236
|
0.00001
|
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu)
|
rs730881915
|
0.00001
|
NM_000535.7(PMS2):c.2174+1G>A
|
rs267608172
|
0.00001
|
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys)
|
rs751235177
|
0.00001
|
NM_000535.7(PMS2):c.2382dup (p.Gly795fs)
|
rs1231406078
|
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.241G>A (p.Glu81Lys)
|
rs730881919
|
0.00001
|
NM_000535.7(PMS2):c.243A>G (p.Glu81=)
|
rs1057521802
|
0.00001
|
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)
|
rs1064794083
|
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.25A>G (p.Thr9Ala)
|
rs786202383
|
0.00001
|
NM_000535.7(PMS2):c.267A>G (p.Thr89=)
|
rs876659181
|
0.00001
|
NM_000535.7(PMS2):c.299A>C (p.Gln100Pro)
|
rs747771951
|
0.00001
|
NM_000535.7(PMS2):c.322G>C (p.Gly108Arg)
|
rs750866397
|
0.00001
|
NM_000535.7(PMS2):c.339A>T (p.Ser113=)
|
rs951573893
|
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.354-5C>G
|
rs200591010
|
0.00001
|
NM_000535.7(PMS2):c.354C>T (p.Ser118=)
|
rs760615315
|
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.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.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.466A>G (p.Thr156Ala)
|
rs786204206
|
0.00001
|
NM_000535.7(PMS2):c.46A>G (p.Lys16Glu)
|
rs777845808
|
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.494C>T (p.Thr165Ile)
|
rs587781541
|
0.00001
|
NM_000535.7(PMS2):c.506G>A (p.Arg169His)
|
rs730881917
|
0.00001
|
NM_000535.7(PMS2):c.538-2A>G
|
rs758304323
|
0.00001
|
NM_000535.7(PMS2):c.593dup (p.Arg199fs)
|
rs267608148
|
0.00001
|
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser)
|
rs779946576
|
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.653G>A (p.Gly218Asp)
|
rs368043334
|
0.00001
|
NM_000535.7(PMS2):c.667A>G (p.Ile223Val)
|
rs876660067
|
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.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.755G>A (p.Cys252Tyr)
|
rs775445157
|
0.00001
|
NM_000535.7(PMS2):c.795T>C (p.Asn265=)
|
rs766667186
|
0.00001
|
NM_000535.7(PMS2):c.804-15A>G
|
rs1448706115
|
0.00001
|
NM_000535.7(PMS2):c.825A>G (p.Gln275=)
|
rs876659736
|
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.846G>A (p.Arg282=)
|
rs753748043
|
0.00001
|
NM_000535.7(PMS2):c.847A>C (p.Ser283Arg)
|
rs876660871
|
0.00001
|
NM_000535.7(PMS2):c.879C>T (p.Asn293=)
|
rs1208421007
|
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.904-11A>G
|
rs748113698
|
0.00001
|
NM_000535.7(PMS2):c.904-5T>G
|
rs1159396042
|
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.994G>A (p.Val332Ile)
|
rs1236095389
|
0.00001
|
NC_000007.14:g.(?_5991973)_(5999275_?)del
|
|
|
NC_000007.14:g.(?_5991973)_(6002636_?)del
|
|
|
NC_000007.14:g.(?_5991973)_(6006031_?)del
|
|
|
NC_000007.14:g.(?_5997326)_(6004058_?)del
|
|
|
NC_000007.14:g.(?_6003690)_(6004058_?)del
|
|
|
NM_000535.5(PMS2):c.(?_-87)_(*160_?)del
|
|
|
NM_000535.5(PMS2):c.(?_-87)_23+?del
|
|
|
NM_000535.5(PMS2):c.(?_989-5)_(2445+5_?)del
|
|
|
NM_000535.5(PMS2):c.-93G>A
|
rs6976537
|
|
NM_000535.5(PMS2):c.1145-1350_*20545del
|
|
|
NM_000535.5(PMS2):c.354-?_(*160_?)del
|
|
|
NM_000535.5(PMS2):c.538-?_903+?del
|
|
|
NM_000535.5(PMS2):c.804-60_804-59insJN866832.1
|
|
|
NM_000535.5(PMS2):c.804-?_2006+?del
|
|
|
NM_000535.5(PMS2):c.904-?_(*160_?)del
|
|
|
NM_000535.5(PMS2):c.904-?_1144+?del
|
|
|
NM_000535.5(PMS2):c.989-?_(*160_?)del
|
|
|
NM_000535.5(PMS2):c.989-?_1144+?del
|
|
|
NM_000535.6(PMS2):c.-48C>A
|
rs886062402
|
|
NM_000535.6(PMS2):c.-87_537+?del
|
|
|
NM_000535.6(PMS2):c.-93G>T
|
rs6976537
|
|
NM_000535.6(PMS2):c.1145-?_2174+?del
|
|
|
NM_000535.6(PMS2):c.1145-?_2174+?dup1030
|
|
|
NM_000535.6(PMS2):c.1169_1170ins20 (p.?)
|
|
|
NM_000535.6(PMS2):c.164-?_2006+?del
|
|
|
NM_000535.6(PMS2):c.2007-?_2174+?del
|
|
|
NM_000535.6(PMS2):c.2276-?_*160+?del
|
|
|
NM_000535.6(PMS2):c.2276-?_2445+?del
|
|
|
NM_000535.6(PMS2):c.24-?_163+?del
|
|
|
NM_000535.6(PMS2):c.354-?_803+?del
|
|
|
NM_000535.6(PMS2):c.706-?_803+?del
|
|
|
NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)
|
|
|
NM_000535.6(PMS2):c.804-?_903+?del
|
|
|
NM_000535.6(PMS2):c.904-?_988+?del
|
|
|
NM_000535.7(PMS2):c.*92dup
|
rs267608145
|
|
NM_000535.7(PMS2):c.1004A>T (p.Asn335Ile)
|
rs200513014
|
|
NM_000535.7(PMS2):c.100A>C (p.Ser34Arg)
|
rs730881912
|
|
NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala)
|
rs876660508
|
|
NM_000535.7(PMS2):c.1021del (p.Arg341fs)
|
rs63750049
|
|
NM_000535.7(PMS2):c.1026A>C (p.Gln342His)
|
rs561993366
|
|
NM_000535.7(PMS2):c.1026A>G (p.Gln342=)
|
rs561993366
|
|
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp)
|
rs150515238
|
|
NM_000535.7(PMS2):c.1048C>A (p.Leu350Ile)
|
|
|
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.1053G>A (p.Leu351=)
|
rs1060503145
|
|
NM_000535.7(PMS2):c.105A>G (p.Leu35=)
|
rs947238940
|
|
NM_000535.7(PMS2):c.1068G>A (p.Lys356=)
|
rs528499793
|
|
NM_000535.7(PMS2):c.1072T>A (p.Ser358Thr)
|
rs767755376
|
|
NM_000535.7(PMS2):c.1076dup (p.Leu359fs)
|
rs267608156
|
|
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile)
|
rs746889239
|
|
NM_000535.7(PMS2):c.1100T>C (p.Val367Ala)
|
|
|
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)
|
rs587779326
|
|
NM_000535.7(PMS2):c.1119_1122del (p.Gln374fs)
|
rs757679199
|
|
NM_000535.7(PMS2):c.1144+2T>A
|
rs267608158
|
|
NM_000535.7(PMS2):c.1144+5del
|
rs878854032
|
|
NM_000535.7(PMS2):c.1145-11C>T
|
rs558565527
|
|
NM_000535.7(PMS2):c.1145-982_2006+2del
|
|
|
NM_000535.7(PMS2):c.1149C>G (p.Asn383Lys)
|
rs1562637166
|
|
NM_000535.7(PMS2):c.1158A>G (p.Lys386=)
|
|
|
NM_000535.7(PMS2):c.1165G>A (p.Ala389Thr)
|
rs1562637025
|
|
NM_000535.7(PMS2):c.1171G>C (p.Asp391His)
|
rs1064795020
|
|
NM_000535.7(PMS2):c.1185del (p.Met396fs)
|
rs786204104
|
|
NM_000535.7(PMS2):c.1193A>G (p.Glu398Gly)
|
|
|
NM_000535.7(PMS2):c.1196dup (p.Gln400fs)
|
rs1554298056
|
|
NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)
|
|
|
NM_000535.7(PMS2):c.1205A>G (p.Gln402Arg)
|
rs1583323301
|
|
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.1219A>G (p.Arg407Gly)
|
rs776725795
|
|
NM_000535.7(PMS2):c.1221del (p.Thr408fs)
|
rs587776715
|
|
NM_000535.7(PMS2):c.122A>G (p.Glu41Gly)
|
rs1562701448
|
|
NM_000535.7(PMS2):c.122A>T (p.Glu41Val)
|
|
|
NM_000535.7(PMS2):c.1231G>T (p.Glu411Ter)
|
|
|
NM_000535.7(PMS2):c.1238A>G (p.Lys413Arg)
|
|
|
NM_000535.7(PMS2):c.1239dup (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)
|
rs863224676
|
|
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.1254del (p.Arg419fs)
|
|
|
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.1288A>T (p.Thr430Ser)
|
rs587781382
|
|
NM_000535.7(PMS2):c.1306dup (p.Ser436fs)
|
rs63750106
|
|
NM_000535.7(PMS2):c.1322A>G (p.Glu441Gly)
|
rs1562634610
|
|
NM_000535.7(PMS2):c.1325C>A (p.Pro442Gln)
|
rs1783133970
|
|
NM_000535.7(PMS2):c.1332del (p.Ser445fs)
|
rs1554297877
|
|
NM_000535.7(PMS2):c.1336_1402del (p.Ser445_Pro446insTer)
|
rs1562633331
|
|
NM_000535.7(PMS2):c.1338T>C (p.Pro446=)
|
rs786203033
|
|
NM_000535.7(PMS2):c.1351del (p.Arg451fs)
|
rs1562634268
|
|
NM_000535.7(PMS2):c.1354G>A (p.Gly452Ser)
|
rs569947936
|
|
NM_000535.7(PMS2):c.1356T>G (p.Gly452=)
|
rs786202946
|
|
NM_000535.7(PMS2):c.13dup (p.Glu5fs)
|
|
|
NM_000535.7(PMS2):c.1409C>T (p.Pro470Leu)
|
rs1783101060
|
|
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.142G>A (p.Asp48Asn)
|
rs755665894
|
|
NM_000535.7(PMS2):c.1430C>A (p.Ser477Tyr)
|
rs876661291
|
|
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.1454C>T (p.Thr485Met)
|
rs1805323
|
|
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.1472_1485del (p.Glu491fs)
|
rs1562632035
|
|
NM_000535.7(PMS2):c.1476G>A (p.Lys492=)
|
rs766309532
|
|
NM_000535.7(PMS2):c.1488_1489insTGCC (p.Gly497fs)
|
|
|
NM_000535.7(PMS2):c.1497T>C (p.Thr499=)
|
|
|
NM_000535.7(PMS2):c.1500del (p.Val501fs)
|
rs759151952
|
|
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.1535G>A (p.Gly512Asp)
|
rs1450081432
|
|
NM_000535.7(PMS2):c.1551C>T (p.Ser517=)
|
rs587782479
|
|
NM_000535.7(PMS2):c.1569C>T (p.Ser523=)
|
rs141458772
|
|
NM_000535.7(PMS2):c.1571C>T (p.Pro524Leu)
|
rs63751257
|
|
NM_000535.7(PMS2):c.1572A>G (p.Pro524=)
|
rs1488622375
|
|
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.1585T>A (p.Ser529Thr)
|
|
|
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup)
|
rs587780043
|
|
NM_000535.7(PMS2):c.1595A>G (p.His532Arg)
|
rs1554297505
|
|
NM_000535.7(PMS2):c.161T>C (p.Ile54Thr)
|
rs764565924
|
|
NM_000535.7(PMS2):c.1626T>C (p.Thr542=)
|
rs1554297442
|
|
NM_000535.7(PMS2):c.163+2T>C
|
rs587779329
|
|
NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys)
|
rs557906137
|
|
NM_000535.7(PMS2):c.1634_1635del (p.Ser545fs)
|
rs753256070
|
|
NM_000535.7(PMS2):c.1639dup (p.Ser547fs)
|
rs863224498
|
|
NM_000535.7(PMS2):c.164-1G>C
|
rs763308607
|
|
NM_000535.7(PMS2):c.164-2A>G
|
rs587779324
|
|
NM_000535.7(PMS2):c.164-4C>A
|
rs876658444
|
|
NM_000535.7(PMS2):c.164-518_803+252delinsCG
|
|
|
NM_000535.7(PMS2):c.164-6T>C
|
rs1060504837
|
|
NM_000535.7(PMS2):c.1643A>T (p.Asp548Val)
|
|
|
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.1653C>A (p.Cys551Ter)
|
rs876659162
|
|
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>G (p.Thr558Ser)
|
|
|
NM_000535.7(PMS2):c.1674C>G (p.Thr558=)
|
|
|
NM_000535.7(PMS2):c.1679G>A (p.Cys560Tyr)
|
rs757989905
|
|
NM_000535.7(PMS2):c.1682A>G (p.Lys561Arg)
|
rs876658481
|
|
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>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000535.7(PMS2):c.168A>G (p.Leu56=)
|
rs2128830767
|
|
NM_000535.7(PMS2):c.1694T>C (p.Leu565Ser)
|
rs1783008091
|
|
NM_000535.7(PMS2):c.1697C>T (p.Pro566Leu)
|
rs2128725121
|
|
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg)
|
rs869312801
|
|
NM_000535.7(PMS2):c.1703C>T (p.Pro568Leu)
|
rs869312801
|
|
NM_000535.7(PMS2):c.1708A>C (p.Asn570His)
|
rs115670442
|
|
NM_000535.7(PMS2):c.1718C>A (p.Thr573Asn)
|
rs876660076
|
|
NM_000535.7(PMS2):c.1727C>T (p.Thr576Ile)
|
rs1554297301
|
|
NM_000535.7(PMS2):c.1730dup (p.Arg578fs)
|
rs587779330
|
|
NM_000535.7(PMS2):c.1731G>A (p.Lys577=)
|
rs1057523469
|
|
NM_000535.7(PMS2):c.1734T>A (p.Arg578=)
|
rs2128724400
|
|
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)
|
rs267608169
|
|
NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile)
|
rs762100304
|
|
NM_000535.7(PMS2):c.1768del (p.Ile590fs)
|
rs63750477
|
|
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg)
|
rs764252217
|
|
NM_000535.7(PMS2):c.1774C>G (p.Gln592Glu)
|
rs63750994
|
|
NM_000535.7(PMS2):c.1778del (p.Lys593fs)
|
rs766389591
|
|
NM_000535.7(PMS2):c.1789A>G (p.Thr597Ala)
|
rs1805318
|
|
NM_000535.7(PMS2):c.1796A>G (p.Asp599Gly)
|
rs878854039
|
|
NM_000535.7(PMS2):c.1796A>T (p.Asp599Val)
|
rs878854039
|
|
NM_000535.7(PMS2):c.1802C>T (p.Ser601Leu)
|
|
|
NM_000535.7(PMS2):c.182del (p.Tyr61fs)
|
rs63750793
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)
|
rs63750490
|
|
NM_000535.7(PMS2):c.1841A>G (p.Lys614Arg)
|
rs771892867
|
|
NM_000535.7(PMS2):c.1846G>T (p.Val616Leu)
|
rs1782961561
|
|
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer)
|
rs786203073
|
|
NM_000535.7(PMS2):c.1876G>C (p.Ala626Pro)
|
rs587779331
|
|
NM_000535.7(PMS2):c.1882C>A (p.Arg628=)
|
|
|
NM_000535.7(PMS2):c.1883G>C (p.Arg628Pro)
|
|
|
NM_000535.7(PMS2):c.189G>A (p.Val63=)
|
rs786203074
|
|
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)
|
rs1554297125
|
|
NM_000535.7(PMS2):c.1910A>C (p.Gln637Pro)
|
|
|
NM_000535.7(PMS2):c.1924G>A (p.Glu642Lys)
|
rs752772040
|
|
NM_000535.7(PMS2):c.1934A>G (p.Tyr645Cys)
|
rs786203075
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg)
|
rs749141001
|
|
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.1970del (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.1997A>G (p.Lys666Arg)
|
|
|
NM_000535.7(PMS2):c.2006G>A (p.Ser669Asn)
|
|
|
NM_000535.7(PMS2):c.2007-1G>A
|
rs267608170
|
|
NM_000535.7(PMS2):c.2029G>T (p.Glu677Ter)
|
|
|
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu)
|
rs878854041
|
|
NM_000535.7(PMS2):c.2075A>G (p.Asn692Ser)
|
rs1562615666
|
|
NM_000535.7(PMS2):c.20C>G (p.Ser7Trp)
|
rs587780048
|
|
NM_000535.7(PMS2):c.210C>G (p.Asp70Glu)
|
rs1554304997
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs)
|
rs1785419483
|
|
NM_000535.7(PMS2):c.2167C>G (p.Leu723Val)
|
rs1456057054
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.219_220dup (p.Gly74fs)
|
rs587779336
|
|
NM_000535.7(PMS2):c.21G>C (p.Ser7=)
|
rs587780726
|
|
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.2239A>T (p.Arg747Ter)
|
rs1554294448
|
|
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs)
|
rs267608173
|
|
NM_000535.7(PMS2):c.2276-113_2445+1596del
|
|
|
NM_000535.7(PMS2):c.2276-91_2445+790del
|
|
|
NM_000535.7(PMS2):c.23+21_23+28del
|
rs1554308880
|
|
NM_000535.7(PMS2):c.23+24G>A
|
|
|
NM_000535.7(PMS2):c.23+29C>T
|
rs372733983
|
|
NM_000535.7(PMS2):c.2350del (p.Asp784fs)
|
|
|
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)
|
rs267608160
|
|
NM_000535.7(PMS2):c.239T>G (p.Phe80Cys)
|
rs1064795697
|
|
NM_000535.7(PMS2):c.24-12_107delinsAAAT
|
rs1554306445
|
|
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.2445+1G>C
|
rs876661113
|
|
NM_000535.7(PMS2):c.2445+1G>T
|
rs876661113
|
|
NM_000535.7(PMS2):c.2458dup (p.Thr820fs)
|
rs1554292880
|
|
NM_000535.7(PMS2):c.247_250dup (p.Thr84fs)
|
rs1554304940
|
|
NM_000535.7(PMS2):c.250+8G>A
|
rs1057520511
|
|
NM_000535.7(PMS2):c.2502G>T (p.Met834Ile)
|
rs1554292818
|
|
NM_000535.7(PMS2):c.250A>C (p.Thr84Pro)
|
rs1554304938
|
|
NM_000535.7(PMS2):c.251-2A>G
|
rs587779340
|
|
NM_000535.7(PMS2):c.2533del (p.His845fs)
|
rs1064796500
|
|
NM_000535.7(PMS2):c.259C>T (p.His87Tyr)
|
|
|
NM_000535.7(PMS2):c.26C>T (p.Thr9Ile)
|
rs1210073386
|
|
NM_000535.7(PMS2):c.296C>T (p.Thr99Ile)
|
rs786202835
|
|
NM_000535.7(PMS2):c.299A>G (p.Gln100Arg)
|
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.304G>T (p.Glu102Ter)
|
|
|
NM_000535.7(PMS2):c.30A>G (p.Glu10=)
|
rs876660608
|
|
NM_000535.7(PMS2):c.315C>T (p.Gly105=)
|
rs1472855482
|
|
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.325dup (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.338C>A (p.Ser113Ter)
|
|
|
NM_000535.7(PMS2):c.33T>C (p.Pro11=)
|
rs780178572
|
|
NM_000535.7(PMS2):c.343T>A (p.Cys115Ser)
|
rs1290792398
|
|
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.353+2T>C
|
rs111466480
|
|
NM_000535.7(PMS2):c.353G>T (p.Ser118Ile)
|
rs1394474494
|
|
NM_000535.7(PMS2):c.354-15G>T
|
rs1250216615
|
|
NM_000535.7(PMS2):c.354-2A>G
|
rs786202098
|
|
NM_000535.7(PMS2):c.370A>G (p.Thr124Ala)
|
rs1554304105
|
|
NM_000535.7(PMS2):c.371C>T (p.Thr124Ile)
|
rs1034709810
|
|
NM_000535.7(PMS2):c.378C>G (p.His126Gln)
|
rs768488890
|
|
NM_000535.7(PMS2):c.380C>G (p.Ala127Gly)
|
|
|
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.396A>G (p.Gly132=)
|
rs786201073
|
|
NM_000535.7(PMS2):c.398C>T (p.Thr133Ile)
|
rs1064794097
|
|
NM_000535.7(PMS2):c.408G>T (p.Met136Ile)
|
|
|
NM_000535.7(PMS2):c.40G>T (p.Ala14Ser)
|
rs876661039
|
|
NM_000535.7(PMS2):c.416A>G (p.His139Arg)
|
rs876658142
|
|
NM_000535.7(PMS2):c.433C>T (p.Gln145Ter)
|
|
|
NM_000535.7(PMS2):c.446A>G (p.Tyr149Cys)
|
|
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NM_000535.7(PMS2):c.451C>A (p.Arg151Ser)
|
|
|
NM_000535.7(PMS2):c.467C>T (p.Thr156Ile)
|
rs1554303953
|
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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.475G>C (p.Val159Leu)
|
rs142416537
|
|
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu)
|
rs587780060
|
|
NM_000535.7(PMS2):c.535A>T (p.Lys179Ter)
|
rs1554303861
|
|
NM_000535.7(PMS2):c.537+5A>G
|
rs1562688519
|
|
NM_000535.7(PMS2):c.537G>A (p.Lys179=)
|
rs864622074
|
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NM_000535.7(PMS2):c.538-478_705+456del
|
|
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NM_000535.7(PMS2):c.541T>C (p.Tyr181His)
|
rs863224680
|
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NM_000535.7(PMS2):c.543T>G (p.Tyr181Ter)
|
rs1583387894
|
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NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer)
|
rs63751029
|
|
NM_000535.7(PMS2):c.552G>T (p.Met184Ile)
|
rs764853641
|
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NM_000535.7(PMS2):c.559dup (p.Val187fs)
|
|
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NM_000535.7(PMS2):c.566A>G (p.His189Arg)
|
rs876660330
|
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NM_000535.7(PMS2):c.568G>A (p.Ala190Thr)
|
rs1784822104
|
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NM_000535.7(PMS2):c.580A>G (p.Ile194Val)
|
rs1554302492
|
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NM_000535.7(PMS2):c.58C>G (p.Arg20Gly)
|
rs573374779
|
|
NM_000535.7(PMS2):c.5A>T (p.Glu2Val)
|
rs876658233
|
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NM_000535.7(PMS2):c.60G>C (p.Arg20=)
|
rs1554306548
|
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NM_000535.7(PMS2):c.615G>C (p.Gln205His)
|
rs752499497
|
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NM_000535.7(PMS2):c.619G>A (p.Gly207Arg)
|
rs368847322
|
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NM_000535.7(PMS2):c.627A>G (p.Gly209=)
|
rs754540642
|
|
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter)
|
rs760228510
|
|
NM_000535.7(PMS2):c.63_75del (p.Ser22fs)
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|
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NM_000535.7(PMS2):c.641T>G (p.Val214Gly)
|
rs864622706
|
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NM_000535.7(PMS2):c.652G>A (p.Gly218Ser)
|
rs878854055
|
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NM_000535.7(PMS2):c.656G>A (p.Gly219Glu)
|
rs749431015
|
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NM_000535.7(PMS2):c.662C>T (p.Pro221Leu)
|
rs878854056
|
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NM_000535.7(PMS2):c.670A>G (p.Lys224Glu)
|
rs1784795307
|
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NM_000535.7(PMS2):c.673G>A (p.Glu225Lys)
|
rs1562677770
|
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NM_000535.7(PMS2):c.679A>C (p.Ile227Leu)
|
|
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NM_000535.7(PMS2):c.681C>A (p.Ile227=)
|
rs188813057
|
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NM_000535.7(PMS2):c.684C>T (p.Gly228=)
|
rs371876208
|
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NM_000535.7(PMS2):c.685T>C (p.Ser229Pro)
|
rs730881909
|
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NM_000535.7(PMS2):c.690G>A (p.Val230=)
|
rs749871098
|
|
NM_000535.7(PMS2):c.690G>T (p.Val230=)
|
rs749871098
|
|
NM_000535.7(PMS2):c.691_694del (p.Phe231fs)
|
rs1784787989
|
|
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.697C>T (p.Gln233Ter)
|
rs587779343
|
|
NM_000535.7(PMS2):c.703C>T (p.Gln235Ter)
|
rs63750261
|
|
NM_000535.7(PMS2):c.705+1G>T
|
rs267608147
|
|
NM_000535.7(PMS2):c.706-1G>T
|
|
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NM_000535.7(PMS2):c.706-3_706-2insT
|
|
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NM_000535.7(PMS2):c.706-3del
|
rs770480662
|
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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.721C>G (p.Pro241Ala)
|
rs779411667
|
|
NM_000535.7(PMS2):c.727G>T (p.Val243Phe)
|
rs867655834
|
|
NM_000535.7(PMS2):c.732G>C (p.Gln244His)
|
rs1390756677
|
|
NM_000535.7(PMS2):c.733_741delinsGCTGTGCTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer)
|
rs1554301495
|
|
NM_000535.7(PMS2):c.736C>A (p.Pro246Thr)
|
rs765668173
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.740C>T (p.Pro247Leu)
|
|
|
NM_000535.7(PMS2):c.741del (p.Ser248fs)
|
rs1583374709
|
|
NM_000535.7(PMS2):c.75G>A (p.Gln25=)
|
rs1554306525
|
|
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)
|
rs573125799
|
|
NM_000535.7(PMS2):c.770T>G (p.Leu257Trp)
|
rs1554301463
|
|
NM_000535.7(PMS2):c.780del (p.Asp261fs)
|
rs587779344
|
|
NM_000535.7(PMS2):c.784G>A (p.Ala262Thr)
|
rs779625900
|
|
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.802del (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.802dup (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.803+5G>A
|
rs939641251
|
|
NM_000535.7(PMS2):c.804-1G>A
|
rs1562664845
|
|
NM_000535.7(PMS2):c.804-9G>A
|
rs780427536
|
|
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)
|
rs587780062
|
|
NM_000535.7(PMS2):c.824A>T (p.Gln275Leu)
|
|
|
NM_000535.7(PMS2):c.829dup (p.Thr277fs)
|
|
|
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.851del (p.Ser283_Ser284insTer)
|
rs876658964
|
|
NM_000535.7(PMS2):c.85G>A (p.Gly29Arg)
|
rs1583419271
|
|
NM_000535.7(PMS2):c.860dup (p.Gln288fs)
|
rs2128775362
|
|
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.862_863del (p.Gln288fs)
|
rs63750246
|
|
NM_000535.7(PMS2):c.864G>T (p.Gln288His)
|
rs990212889
|
|
NM_000535.7(PMS2):c.869T>C (p.Phe290Ser)
|
rs1031512870
|
|
NM_000535.7(PMS2):c.881G>C (p.Arg294Pro)
|
|
|
NM_000535.7(PMS2):c.885G>T (p.Arg295=)
|
rs786201615
|
|
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.894C>A (p.Asp298Glu)
|
|
|
NM_000535.7(PMS2):c.8G>T (p.Arg3Leu)
|
rs375507981
|
|
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.904-14T>C
|
rs1064795266
|
|
NM_000535.7(PMS2):c.904-17_904-15del
|
rs749482906
|
|
NM_000535.7(PMS2):c.920A>G (p.Asn307Ser)
|
rs1583345602
|
|
NM_000535.7(PMS2):c.929A>G (p.Tyr310Cys)
|
rs372172981
|
|
NM_000535.7(PMS2):c.930C>T (p.Tyr310=)
|
rs1405625567
|
|
NM_000535.7(PMS2):c.931C>A (p.His311Asn)
|
|
|
NM_000535.7(PMS2):c.931C>T (p.His311Tyr)
|
rs2128755904
|
|
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.949C>A (p.Gln317Lys)
|
rs143277125
|
|
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)
|
rs143277125
|
|
NM_000535.7(PMS2):c.955C>T (p.Pro319Ser)
|
rs1248142939
|
|
NM_000535.7(PMS2):c.96A>G (p.Val32=)
|
rs746089731
|
|
NM_000535.7(PMS2):c.97C>T (p.Leu33=)
|
rs878854061
|
|
NM_000535.7(PMS2):c.988+1G>T
|
rs757110564
|
|
NM_000535.7(PMS2):c.988+2T>C
|
|
|
NM_000535.7(PMS2):c.988G>C (p.Glu330Gln)
|
rs1370798039
|
|
NM_000535.7(PMS2):c.989-1G>T
|
rs587780064
|
|
NM_000535.7(PMS2):c.989-296_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.989-8dup
|
rs1333503820
|
|
NM_000535.7(PMS2):c.992G>A (p.Cys331Tyr)
|
rs1184563006
|
|
NM_000535.7(PMS2):c.998A>T (p.Asp333Val)
|
rs1187390273
|
|
NM_000535.7:(PMS2):c.(1144+1_1145-1)_(2445+1_2446-1)del (p.Asn383Aspfs*7)
|
|
|
NM_000535.7:c.(23+1_24-1)_(988+1_989-1)del
|
|
|
Single allele
|
|
|