ClinVar Miner

List of variants in gene PMS2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 523
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HGVS dbSNP
NM_000535.6(PMS2):c.1688_1732del45ins46 (p.?)
NM_000535.6(PMS2):c.2175-?_2445+?del
NM_000535.6(PMS2):c.904-?_988+?dup
NM_000535.7(PMS2):c.*17G>C rs556089649
NM_000535.7(PMS2):c.*3G>A rs776493195
NM_000535.7(PMS2):c.-2C>T rs876658209
NM_000535.7(PMS2):c.-7_-5del rs1064794112
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) 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.101G>T (p.Ser34Ile) rs370612538
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1026A>C (p.Gln342His) rs561993366
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp) rs150515238
NM_000535.7(PMS2):c.1067del (p.Lys356fs) rs587781395
NM_000535.7(PMS2):c.106A>C (p.Ser36Arg) rs587781918
NM_000535.7(PMS2):c.1075T>G (p.Leu359Val) rs730881910
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.107G>A (p.Ser36Asn) rs876661105
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013
NM_000535.7(PMS2):c.1082G>A (p.Gly361Glu) rs1064793540
NM_000535.7(PMS2):c.1092T>A (p.Asp364Glu) rs370066853
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.1103A>G (p.Asn368Ser) rs777814445
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs) rs587779326
NM_000535.7(PMS2):c.1113T>C (p.Asn371=) rs989130272
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.1126C>T (p.Pro376Ser) rs730881911
NM_000535.7(PMS2):c.1131G>A (p.Leu377=) rs1064794687
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248
NM_000535.7(PMS2):c.1144+1G>A rs373885654
NM_000535.7(PMS2):c.1144+1G>C rs373885654
NM_000535.7(PMS2):c.1145G>A (p.Gly382Asp) rs876661243
NM_000535.7(PMS2):c.114G>A (p.Ala38=) rs558032755
NM_000535.7(PMS2):c.1167A>G (p.Ala389=) rs748920792
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val) rs587780039
NM_000535.7(PMS2):c.116del (p.Val39fs) rs1064794152
NM_000535.7(PMS2):c.1171G>T (p.Asp391Tyr) rs1064795020
NM_000535.7(PMS2):c.1177G>A (p.Glu393Lys) rs1243063129
NM_000535.7(PMS2):c.1185C>T (p.Pro395=) rs1562636721
NM_000535.7(PMS2):c.1197G>A (p.Lys399=) rs757730609
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro) rs148069478
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721
NM_000535.7(PMS2):c.1204C>G (p.Gln402Glu) rs587782789
NM_000535.7(PMS2):c.1209C>T (p.Ser403=) rs147399413
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg) rs536111818
NM_000535.7(PMS2):c.1224T>C (p.Thr408=) rs1554298007
NM_000535.7(PMS2):c.1225G>C (p.Gly409Arg) rs864622553
NM_000535.7(PMS2):c.1233A>C (p.Glu411Asp) rs587780040
NM_000535.7(PMS2):c.1233A>T (p.Glu411Asp) rs587780040
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu) rs587778616
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg) rs587780041
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.1240G>T (p.Asp414Tyr) rs370752614
NM_000535.7(PMS2):c.1242C>T (p.Asp414=) rs142839559
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687
NM_000535.7(PMS2):c.1243G>T (p.Val415Leu) rs138387687
NM_000535.7(PMS2):c.1248C>A (p.Ser416=) rs780709321
NM_000535.7(PMS2):c.1253C>T (p.Ser418Phe) rs587782640
NM_000535.7(PMS2):c.1259T>C (p.Leu420Pro) rs747495075
NM_000535.7(PMS2):c.125_127TAG[1] (p.Val43del) rs1064794820
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617
NM_000535.7(PMS2):c.1264G>A (p.Glu422Lys) rs587782175
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser) rs876661186
NM_000535.7(PMS2):c.1275_1279del (p.Leu426fs) rs1554297962
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys) rs376042544
NM_000535.7(PMS2):c.1284C>T (p.His428=)
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala) rs587781382
NM_000535.7(PMS2):c.1298A>C (p.Lys433Thr) rs1064796375
NM_000535.7(PMS2):c.1305C>T (p.His435=) rs763954903
NM_000535.7(PMS2):c.1309C>T (p.Pro437Ser) rs200726484
NM_000535.7(PMS2):c.130G>C (p.Glu44Gln) rs786202669
NM_000535.7(PMS2):c.1319C>T (p.Pro440Leu) rs1064793233
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590
NM_000535.7(PMS2):c.1329A>T (p.Arg443Ser) rs192720342
NM_000535.7(PMS2):c.1345C>G (p.Gln449Glu) rs876661256
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.1360_1361delinsTC (p.Leu454Ser) rs587778615
NM_000535.7(PMS2):c.1372A>C (p.Thr458Pro) rs779306532
NM_000535.7(PMS2):c.1376C>A (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1389T>C (p.Ser463=) rs1554297811
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile) rs373611083
NM_000535.7(PMS2):c.139_146del (p.Leu47fs) rs886039615
NM_000535.7(PMS2):c.13G>C (p.Glu5Gln) rs372539944
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser) rs373114291
NM_000535.7(PMS2):c.1424T>A (p.Val475Glu) rs587781827
NM_000535.7(PMS2):c.142del (p.Asp48fs) rs1064794173
NM_000535.7(PMS2):c.1430C>A (p.Ser477Tyr) rs876661291
NM_000535.7(PMS2):c.1435C>G (p.His479Asp) rs376344586
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg) rs146848345
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.1444A>G (p.Ser482Gly) rs786203510
NM_000535.7(PMS2):c.1450C>T (p.Pro484Ser) rs752122569
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met) rs1805323
NM_000535.7(PMS2):c.1457A>G (p.Asp486Gly) rs899935666
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val) rs587779328
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853
NM_000535.7(PMS2):c.1471G>A (p.Glu491Lys) rs1064794577
NM_000535.7(PMS2):c.1477G>A (p.Asp493Asn) rs148642064
NM_000535.7(PMS2):c.1477G>C (p.Asp493His) rs148642064
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu) rs587782602
NM_000535.7(PMS2):c.1484G>C (p.Gly495Ala) rs1064793846
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859
NM_000535.7(PMS2):c.1499C>G (p.Ser500Cys) rs375905814
NM_000535.7(PMS2):c.149G>A (p.Gly50Asp) rs539285592
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433
NM_000535.7(PMS2):c.1507T>G (p.Ser503Ala) rs864622497
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln) rs368516768
NM_000535.7(PMS2):c.1515G>A (p.Gly505=) rs753856135
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811
NM_000535.7(PMS2):c.1532del (p.Thr511fs) rs1554297636
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys) rs376142390
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His) rs370236216
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649
NM_000535.7(PMS2):c.1556_1567delinsGTGTGGCCAGCA (p.Tyr519_Ser523delinsCysValAlaSerThr) rs1554297549
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn) rs63750686
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr) rs63750686
NM_000535.7(PMS2):c.1576del (p.Asp526fs) rs863224497
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly) rs143235330
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs) rs1064793234
NM_000535.7(PMS2):c.1586C>T (p.Ser529Leu) rs876658794
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006
NM_000535.7(PMS2):c.163+1G>A rs1064795705
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.164-11A>T
NM_000535.7(PMS2):c.164-13_164-12del rs1064796250
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.164-5T>C rs1554305071
NM_000535.7(PMS2):c.1646T>C (p.Val549Ala) rs779150753
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter) rs876659162
NM_000535.7(PMS2):c.1653C>T (p.Cys551=)
NM_000535.7(PMS2):c.1656T>C (p.His552=) rs113726095
NM_000535.7(PMS2):c.1668A>G (p.Glu556=) rs876659780
NM_000535.7(PMS2):c.166C>G (p.Leu56Val) rs371011390
NM_000535.7(PMS2):c.1672A>G (p.Thr558Ala) rs781106967
NM_000535.7(PMS2):c.1673C>T (p.Thr558Ile) rs114037612
NM_000535.7(PMS2):c.1674C>T (p.Thr558=) rs876658134
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.1699C>T (p.Gln567Ter) rs1554297342
NM_000535.7(PMS2):c.1700A>G (p.Gln567Arg) rs112104877
NM_000535.7(PMS2):c.1703C>A (p.Pro568Gln) rs869312801
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg) rs869312801
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer) rs1060503126
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val) rs770625733
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211
NM_000535.7(PMS2):c.1720C>T (p.Pro574Ser) rs758018736
NM_000535.7(PMS2):c.1723A>G (p.Asn575Asp) rs142506484
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs) rs1057515572
NM_000535.7(PMS2):c.1732C>A (p.Arg578Ser) rs63750534
NM_000535.7(PMS2):c.1733G>T (p.Arg578Leu) rs63750770
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1743del (p.Glu582fs) rs1057517801
NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile) rs762100304
NM_000535.7(PMS2):c.1765G>C (p.Asp589His) rs749727182
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318
NM_000535.7(PMS2):c.17G>C (p.Ser6Thr) rs587781112
NM_000535.7(PMS2):c.1806C>G (p.Ala602=) rs376046767
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585
NM_000535.7(PMS2):c.1810C>G (p.Gln604Glu) rs1064793426
NM_000535.7(PMS2):c.1819G>A (p.Val607Ile) rs786204109
NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu) rs199700509
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.1857C>A (p.Asp619Glu) rs876661271
NM_000535.7(PMS2):c.1863del (p.Ser621_Met622insTer) rs1554297164
NM_000535.7(PMS2):c.1864A>G (p.Met622Val) rs370853512
NM_000535.7(PMS2):c.1864A>T (p.Met622Leu) rs370853512
NM_000535.7(PMS2):c.1864_1865del (p.Met622fs) rs1060503137
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.7(PMS2):c.1874_1877delinsAGG (p.Leu625_Ala626delinsTer) rs1554297153
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer) rs786203073
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln) rs587780044
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter) rs1060503138
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter) rs1554297125
NM_000535.7(PMS2):c.1912del (p.Gln638fs) rs1562626070
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys) rs886062400
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422
NM_000535.7(PMS2):c.1929G>T (p.Gln643His) rs786203379
NM_000535.7(PMS2):c.1936A>C (p.Arg646=) rs369582237
NM_000535.7(PMS2):c.1937G>T (p.Arg646Met) rs372341850
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.1944T>C (p.Phe648=) rs144011908
NM_000535.7(PMS2):c.1954A>T (p.Ile652Phe) rs748927376
NM_000535.7(PMS2):c.1963G>A (p.Gly655Arg) rs1064793236
NM_000535.7(PMS2):c.1970dup (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr) rs769554577
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783
NM_000535.7(PMS2):c.1987G>T (p.Glu663Ter) rs1554297061
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys) rs587780045
NM_000535.7(PMS2):c.199G>A (p.Glu67Lys) rs730881913
NM_000535.7(PMS2):c.19T>C (p.Ser7Pro) rs1064793232
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2005del (p.Ser669fs) rs773174603
NM_000535.7(PMS2):c.2006+3A>G rs1064793866
NM_000535.7(PMS2):c.2011A>G (p.Thr671Ala) rs876661087
NM_000535.7(PMS2):c.2012C>G (p.Thr671Arg) rs587780046
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.7(PMS2):c.2035A>G (p.Ile679Val) rs587780047
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr) rs778251286
NM_000535.7(PMS2):c.2049C>G (p.Asn683Lys) rs752950007
NM_000535.7(PMS2):c.2049C>T (p.Asn683=) rs752950007
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln) rs587781909
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.2092G>A (p.Val698Met) rs751551006
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.2097C>G (p.Asp699Glu) rs1064793501
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu) rs587780048
NM_000535.7(PMS2):c.2108C>A (p.Thr703Lys) rs370196722
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722
NM_000535.7(PMS2):c.2112C>T (p.Asp704=) rs764735061
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2121T>C (p.Tyr707=) rs1562615123
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748
NM_000535.7(PMS2):c.2128G>A (p.Glu710Lys) rs1060503131
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser) rs587780049
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter) rs876659900
NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter) rs1057524433
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter) rs876659480
NM_000535.7(PMS2):c.2156del (p.Gln719fs) rs786201062
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915
NM_000535.7(PMS2):c.2166G>A (p.Arg722=) rs863224367
NM_000535.7(PMS2):c.2174+1G>A rs267608172
NM_000535.7(PMS2):c.2174+6T>C rs587780050
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val) rs150630090
NM_000535.7(PMS2):c.2175A>G (p.Ala725=) rs769116749
NM_000535.7(PMS2):c.2185C>G (p.Leu729Val) rs1554294503
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535
NM_000535.7(PMS2):c.2190C>T (p.Asn730=)
NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter) rs1060503110
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.2217G>C (p.Leu739=) rs752718686
NM_000535.7(PMS2):c.221G>C (p.Gly74Ala) rs876661272
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys) rs200824831
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn) rs762206330
NM_000535.7(PMS2):c.2266G>T (p.Asp756Tyr) rs762206330
NM_000535.7(PMS2):c.226_228GAA[2] (p.Glu78del) rs386833411
NM_000535.7(PMS2):c.2275+1G>A rs1554294393
NM_000535.7(PMS2):c.2276-10A>G rs573900018
NM_000535.7(PMS2):c.2287G>A (p.Glu763Lys) rs587780051
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly) rs587780052
NM_000535.7(PMS2):c.23+1G>T rs587782074
NM_000535.7(PMS2):c.23+7G>C rs878854047
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala) rs777095030
NM_000535.7(PMS2):c.2319dup (p.Lys774Ter) rs1554293975
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.7(PMS2):c.2332T>A (p.Phe778Ile) rs876660374
NM_000535.7(PMS2):c.2335G>A (p.Gly779Arg) rs587780053
NM_000535.7(PMS2):c.2338C>A (p.Pro780Thr) rs1064796041
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276
NM_000535.7(PMS2):c.2341C>A (p.Gln781Lys) rs587780054
NM_000535.7(PMS2):c.2346C>T (p.Asp782=) rs139031103
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272
NM_000535.7(PMS2):c.2358G>C (p.Leu786=) rs535056715
NM_000535.7(PMS2):c.2359A>T (p.Ile787Phe) rs191300933
NM_000535.7(PMS2):c.2361C>G (p.Ile787Met) rs1064794923
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs) rs267608160
NM_000535.7(PMS2):c.2381C>G (p.Pro794Arg) rs876659030
NM_000535.7(PMS2):c.2385G>A (p.Gly795=) rs372868520
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile) rs368737800
NM_000535.7(PMS2):c.2390T>C (p.Met797Thr) rs267608152
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766
NM_000535.7(PMS2):c.2396G>A (p.Arg799Gln) rs587780055
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.24-12_107delinsAAAT rs1554306445
NM_000535.7(PMS2):c.24-3T>C rs749485884
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466
NM_000535.7(PMS2):c.240C>T (p.Phe80=) rs143162541
NM_000535.7(PMS2):c.2412G>C (p.Lys804Asn) rs547715146
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.2431G>A (p.Ala811Thr) rs1169337656
NM_000535.7(PMS2):c.2435G>T (p.Cys812Phe) rs876661116
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016
NM_000535.7(PMS2):c.2438G>A (p.Arg813Gln) rs587782665
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu) rs587782665
NM_000535.7(PMS2):c.243A>G (p.Glu81=) rs1057521802
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.2446-2A>G rs886039709
NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys) rs587782828
NM_000535.7(PMS2):c.247_250dup (p.Thr84fs) rs1554304940
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter) rs1064794083
NM_000535.7(PMS2):c.2491A>G (p.Ile831Val) rs876661221
NM_000535.7(PMS2):c.2494A>G (p.Thr832Ala) rs587780056
NM_000535.7(PMS2):c.2500_2501del (p.Met834fs) rs876661042
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter) rs786201039
NM_000535.7(PMS2):c.251-10T>A rs1554304817
NM_000535.7(PMS2):c.251-20T>G rs149343081
NM_000535.7(PMS2):c.251-2A>T rs587779340
NM_000535.7(PMS2):c.251-9C>G rs1064793639
NM_000535.7(PMS2):c.2517C>T (p.His839=) rs747600189
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646
NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter) rs876661203
NM_000535.7(PMS2):c.2533del (p.His845fs) rs1064796500
NM_000535.7(PMS2):c.2538A>G (p.Gly846=) rs863224368
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459
NM_000535.7(PMS2):c.2559C>T (p.Ile853=) rs371673459
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279
NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr) rs574371474
NM_000535.7(PMS2):c.2563A>G (p.Asn855Asp) rs1064793328
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.7(PMS2):c.2575A>G (p.Ile859Val) rs587780058
NM_000535.7(PMS2):c.282G>A (p.Glu94=) rs576942328
NM_000535.7(PMS2):c.283T>C (p.Phe95Leu) rs1554304717
NM_000535.7(PMS2):c.285T>C (p.Phe95=)
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059
NM_000535.7(PMS2):c.300G>C (p.Gln100His) rs1064794102
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln) rs63751284
NM_000535.7(PMS2):c.320G>C (p.Arg107Pro) rs63751284
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.322G>C (p.Gly108Arg) rs750866397
NM_000535.7(PMS2):c.325del (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.325dup (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser) rs767775907
NM_000535.7(PMS2):c.33del (p.Ala12fs) rs1554306605
NM_000535.7(PMS2):c.346G>A (p.Ala116Thr) rs751799116
NM_000535.7(PMS2):c.348A>C (p.Ala116=) rs763057312
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_000535.7(PMS2):c.353+4A>G rs760538709
NM_000535.7(PMS2):c.353+6A>G rs376449640
NM_000535.7(PMS2):c.353+9A>C rs139990791
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.354-5C>G rs200591010
NM_000535.7(PMS2):c.354-7C>T rs758471869
NM_000535.7(PMS2):c.354C>T (p.Ser118=) rs760615315
NM_000535.7(PMS2):c.355G>A (p.Asp119Asn) rs587781913
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr) rs587781913
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu) rs761748894
NM_000535.7(PMS2):c.375C>A (p.Cys125Ter) rs1562690527
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
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.3G>A (p.Met1Ile) rs1554309086
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871
NM_000535.7(PMS2):c.401G>A (p.Arg134Gln) rs771300829
NM_000535.7(PMS2):c.406A>T (p.Met136Leu) rs35690297
NM_000535.7(PMS2):c.408G>A (p.Met136Ile) rs1064794077
NM_000535.7(PMS2):c.40G>T (p.Ala14Ser) rs876661039
NM_000535.7(PMS2):c.412G>C (p.Asp138His) rs863224678
NM_000535.7(PMS2):c.418A>G (p.Asn140Asp) rs35911407
NM_000535.7(PMS2):c.419A>G (p.Asn140Ser) rs876661103
NM_000535.7(PMS2):c.41C>T (p.Ala14Val) rs750524554
NM_000535.7(PMS2):c.422G>C (p.Gly141Ala) rs376931673
NM_000535.7(PMS2):c.433C>A (p.Gln145Lys) rs786204133
NM_000535.7(PMS2):c.434A>G (p.Gln145Arg) rs1064795040
NM_000535.7(PMS2):c.445del (p.Tyr149fs) rs769742496
NM_000535.7(PMS2):c.452G>A (p.Arg151His) rs35629870
NM_000535.7(PMS2):c.452del (p.Arg151fs) rs745763201
NM_000535.7(PMS2):c.457A>G (p.Arg153Gly) rs779013546
NM_000535.7(PMS2):c.466A>G (p.Thr156Ala) rs786204206
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687
NM_000535.7(PMS2):c.502G>A (p.Val168Met) rs762645507
NM_000535.7(PMS2):c.505C>T (p.Arg169Cys) rs730881916
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917
NM_000535.7(PMS2):c.508C>A (p.His170Asn) rs876661152
NM_000535.7(PMS2):c.510del (p.His170fs) rs1064793365
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.531T>G (p.Ile177Met) rs863224679
NM_000535.7(PMS2):c.532_534AAG[1] (p.Lys179del) rs876661092
NM_000535.7(PMS2):c.537+1G>C rs863224450
NM_000535.7(PMS2):c.537+1del rs1064793868
NM_000535.7(PMS2):c.538-16T>G rs763941291
NM_000535.7(PMS2):c.539A>C (p.Glu180Ala) rs1064793401
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.566A>C (p.His189Pro) rs876660330
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.7(PMS2):c.607A>G (p.Thr203Ala) rs730881907
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser) rs779946576
NM_000535.7(PMS2):c.610A>C (p.Asn204His) rs746910555
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.7(PMS2):c.630A>G (p.Lys210=) rs765847615
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter) rs760228510
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934
NM_000535.7(PMS2):c.632G>T (p.Arg211Leu) rs587781934
NM_000535.7(PMS2):c.641T>G (p.Val214Gly) rs864622706
NM_000535.7(PMS2):c.643G>A (p.Val215Ile) rs1064794017
NM_000535.7(PMS2):c.647G>T (p.Cys216Phe) rs730881908
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter) rs1064796190
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp) rs876661233
NM_000535.7(PMS2):c.681C>T (p.Ile227=) rs188813057
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383
NM_000535.7(PMS2):c.683G>T (p.Gly228Val) rs1554302319
NM_000535.7(PMS2):c.685T>C (p.Ser229Pro) rs730881909
NM_000535.7(PMS2):c.687T>C (p.Ser229=) rs786201508
NM_000535.7(PMS2):c.688_689GT[1] (p.Phe231fs) rs1064795447
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.706-2A>T
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu) rs587780061
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082
NM_000535.7(PMS2):c.71A>C (p.His24Pro) rs139233015
NM_000535.7(PMS2):c.727G>T (p.Val243Phe) rs867655834
NM_000535.7(PMS2):c.730C>T (p.Gln244Ter) rs1562671039
NM_000535.7(PMS2):c.733C>A (p.Leu245Met) rs201375580
NM_000535.7(PMS2):c.735G>T (p.Leu245=) rs373366661
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer) rs267608150
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399
NM_000535.7(PMS2):c.746_753del (p.Asp249fs) rs587782710
NM_000535.7(PMS2):c.751G>A (p.Val251Met) rs142434011
NM_000535.7(PMS2):c.752_753TG[2] (p.Cys252_Glu253delinsTer) rs1064794905
NM_000535.7(PMS2):c.758A>C (p.Glu253Ala) rs876661002
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.765C>T (p.Tyr255=) rs573125799
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633
NM_000535.7(PMS2):c.773G>A (p.Ser258Asn) rs587780727
NM_000535.7(PMS2):c.774_780delinsTACG (p.Cys259_Ser260delinsThr) rs1554301436
NM_000535.7(PMS2):c.779_780delinsTG (p.Ser260Leu) rs730881920
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319
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.792T>A (p.His264Gln) rs1554301398
NM_000535.7(PMS2):c.795T>C (p.Asn265=) rs766667186
NM_000535.7(PMS2):c.799T>C (p.Phe267Leu) rs876661158
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.803+19A>G rs761928990
NM_000535.7(PMS2):c.804-10T>G rs267608151
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter) rs786201047
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu) rs587780062
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.825A>G (p.Gln275=) rs876659736
NM_000535.7(PMS2):c.828C>A (p.Cys276Ter) 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.836G>T (p.Gly279Val) rs587782668
NM_000535.7(PMS2):c.847A>C (p.Ser283Arg) rs876660871
NM_000535.7(PMS2):c.851C>G (p.Ser284Ter) rs587782898
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer) rs876658964
NM_000535.7(PMS2):c.853_856ACAG[2] (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.855A>G (p.Thr285=) rs1554300771
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu) rs201921616
NM_000535.7(PMS2):c.862_863del (p.Gln288fs) rs63750246
NM_000535.7(PMS2):c.865T>C (p.Phe289Leu) rs771787834
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704
NM_000535.7(PMS2):c.880C>T (p.Arg294Trp) rs563433235
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln) rs373239341
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp) rs182246929
NM_000535.7(PMS2):c.884G>A (p.Arg295Gln) rs369763423
NM_000535.7(PMS2):c.886C>T (p.Pro296Ser) rs375553553
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955
NM_000535.7(PMS2):c.901A>G (p.Lys301Glu) rs757409701
NM_000535.7(PMS2):c.903+4T>A rs753803330
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.904-14T>A rs1064795266
NM_000535.7(PMS2):c.916G>A (p.Val306Met) rs587780063
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878
NM_000535.7(PMS2):c.922G>A (p.Glu308Lys) rs587781358
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp) rs114185660
NM_000535.7(PMS2):c.935T>C (p.Met312Thr) rs530021751
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys) rs143277125
NM_000535.7(PMS2):c.94G>T (p.Val32Leu) rs977251189
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000535.7(PMS2):c.961G>A (p.Val321Ile) rs377043696
NM_000535.7(PMS2):c.962T>C (p.Val321Ala) rs186448384
NM_000535.7(PMS2):c.964G>A (p.Val322Ile) rs587782208
NM_000535.7(PMS2):c.96A>G (p.Val32=) rs746089731
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852
NM_000535.7(PMS2):c.986C>G (p.Ser329Ter) rs1461669945
NM_000535.7(PMS2):c.989-1G>T rs587780064
NM_000535.7(PMS2):c.994G>A (p.Val332Ile) rs1236095389

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