ClinVar Miner

List of variants in gene PMS2 studied for Lynch syndrome 4

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 992
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HGVS dbSNP gnomAD frequency
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.2007-4G>A rs1805326 0.12350
NM_000535.7(PMS2):c.2007-7C>T rs55954143 0.12135
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000 0.11447
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_000535.7(PMS2):c.164-108G>C rs12538294 0.06053
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_000535.7(PMS2):c.2006+6G>A rs111905775 0.04390
NM_000535.7(PMS2):c.288C>T (p.Ala96=) rs12532895 0.03944
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869 0.01065
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_000535.7(PMS2):c.*107A>G rs148520351 0.00901
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_000535.7(PMS2):c.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.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.1708A>G (p.Asn570Asp) rs115670442 0.00048
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.706-3C>T rs1229860023 0.00030
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_000535.7(PMS2):c.779C>T (p.Ser260Phe) rs777286241 0.00020
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_000535.7(PMS2):c.-7T>C rs199660792 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722 0.00016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys) rs376042544 0.00012
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796 0.00012
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364 0.00012
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His) rs370236216 0.00011
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00011
NM_000535.7(PMS2):c.1689A>G (p.Arg563=) rs551226281 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000535.7(PMS2):c.2276-10A>G rs573900018 0.00010
NM_000535.7(PMS2):c.340C>T (p.Leu114Phe) rs757441871 0.00010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082 0.00010
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu) rs587780062 0.00010
NC_000007.14:g.6009094A>G rs746329908 0.00009
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.1490G>A (p.Gly497Asp) rs199739859 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.226G>C (p.Glu76Gln) rs371682056 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
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.1510G>C (p.Glu504Gln) rs368516768 0.00006
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly) rs143235330 0.00006
NM_000535.7(PMS2):c.1703C>A (p.Pro568Gln) rs869312801 0.00006
NM_000535.7(PMS2):c.1937G>T (p.Arg646Met) rs372341850 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934 0.00006
NM_000535.7(PMS2):c.803+23A>T rs370719706 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_000535.7(PMS2):c.-4A>G rs544503598 0.00005
NM_000535.7(PMS2):c.101G>T (p.Ser34Ile) rs370612538 0.00005
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly) rs144389038 0.00005
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383 0.00005
NM_000535.7(PMS2):c.71A>C (p.His24Pro) rs139233015 0.00005
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399 0.00005
NM_000535.6(PMS2):c.-46T>A rs765248325 0.00004
NM_000535.7(PMS2):c.*17G>C rs556089649 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.1489G>A (p.Gly497Ser) rs749826312 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.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.2287G>A (p.Glu763Lys) rs587780051 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.320G>A (p.Arg107Gln) rs63751284 0.00004
NM_000535.7(PMS2):c.422G>C (p.Gly141Ala) rs376931673 0.00004
NM_000535.7(PMS2):c.455C>G (p.Pro152Arg) rs876660161 0.00004
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00004
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser) rs777903002 0.00004
NM_000535.7(PMS2):c.916G>A (p.Val306Met) rs587780063 0.00004
NM_000535.7(PMS2):c.961G>A (p.Val321Ile) rs377043696 0.00004
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057 0.00003
NM_000535.7(PMS2):c.120G>C (p.Lys40Asn) rs1060504843 0.00003
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr) rs63750686 0.00003
NM_000535.7(PMS2):c.1675G>A (p.Gly559Arg) rs751153838 0.00003
NM_000535.7(PMS2):c.1732C>A (p.Arg578Ser) rs63750534 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.2288A>G (p.Glu763Gly) rs587780052 0.00003
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser) rs864622274 0.00003
NM_000535.7(PMS2):c.2521del (p.Trp841fs) rs886039646 0.00003
NM_000535.7(PMS2):c.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.751G>A (p.Val251Met) rs142434011 0.00003
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp) rs182246929 0.00003
NM_000535.7(PMS2):c.886C>T (p.Pro296Ser) rs375553553 0.00003
NM_000535.7(PMS2):c.88C>A (p.Gln30Lys) rs141577476 0.00003
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878 0.00003
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp) rs114185660 0.00003
NM_000535.7(PMS2):c.1048C>T (p.Leu350Phe) rs587782875 0.00002
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013 0.00002
NM_000535.7(PMS2):c.1103A>G (p.Asn368Ser) rs777814445 0.00002
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248 0.00002
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 0.00002
NM_000535.7(PMS2):c.133A>G (p.Asn45Asp) rs1402531091 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.1499C>G (p.Ser500Cys) rs375905814 0.00002
NM_000535.7(PMS2):c.149G>A (p.Gly50Asp) rs539285592 0.00002
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451 0.00002
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys) rs778531080 0.00002
NM_000535.7(PMS2):c.2174+6T>C rs587780050 0.00002
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val) rs150630090 0.00002
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000535.7(PMS2):c.2497C>T (p.His833Tyr) rs777470381 0.00002
NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr) rs574371474 0.00002
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser) rs767775907 0.00002
NM_000535.7(PMS2):c.378C>T (p.His126=) rs768488890 0.00002
NM_000535.7(PMS2):c.412G>C (p.Asp138His) rs863224678 0.00002
NM_000535.7(PMS2):c.598G>A (p.Val200Ile) rs587778620 0.00002
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633 0.00002
NM_000535.7(PMS2):c.868T>G (p.Phe290Val) rs587782833 0.00002
NM_000535.7(PMS2):c.901A>G (p.Lys301Glu) rs757409701 0.00002
NM_000535.7(PMS2):c.964G>A (p.Val322Ile) rs587782208 0.00002
NM_000535.7(PMS2):c.972C>A (p.Asn324Lys) rs182085259 0.00002
NM_000535.7(PMS2):c.988+10A>G rs372554253 0.00002
NM_000535.7(PMS2):c.989A>G (p.Glu330Gly) rs761913816 0.00002
NM_000535.7(PMS2):c.1047G>A (p.Lys349=) rs1422380612 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.1084A>G (p.Met362Val) rs876659797 0.00001
NM_000535.7(PMS2):c.1126C>T (p.Pro376Ser) rs730881911 0.00001
NM_000535.7(PMS2):c.1139T>G (p.Val380Gly) rs748971523 0.00001
NM_000535.7(PMS2):c.1144+1G>A rs373885654 0.00001
NM_000535.7(PMS2):c.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.1262G>A (p.Arg421Gln) rs778482303 0.00001
NM_000535.7(PMS2):c.1264G>A (p.Glu422Lys) rs587782175 0.00001
NM_000535.7(PMS2):c.1316C>T (p.Thr439Ile) rs1187749040 0.00001
NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys) rs876660834 0.00001
NM_000535.7(PMS2):c.1390G>A (p.Asp464Asn) rs1394213772 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.1455G>A (p.Thr485=) rs752665758 0.00001
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter) rs1064794577 0.00001
NM_000535.7(PMS2):c.1477G>A (p.Asp493Asn) rs148642064 0.00001
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu) rs587782602 0.00001
NM_000535.7(PMS2):c.14A>T (p.Glu5Val) rs876659080 0.00001
NM_000535.7(PMS2):c.1520G>A (p.Ser507Asn) rs766256390 0.00001
NM_000535.7(PMS2):c.1552G>A (p.Glu518Lys) rs376142390 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.163+4A>G rs864622749 0.00001
NM_000535.7(PMS2):c.164-1G>A rs763308607 0.00001
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val) rs770625733 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.1819G>A (p.Val607Ile) rs786204109 0.00001
NM_000535.7(PMS2):c.182A>G (p.Tyr61Cys) rs773109986 0.00001
NM_000535.7(PMS2):c.1835A>G (p.Asn612Ser) rs1583314932 0.00001
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys) rs886062400 0.00001
NM_000535.7(PMS2):c.1926A>G (p.Glu642=) rs765262682 0.00001
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter) rs63751422 0.00001
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg) rs760629688 0.00001
NM_000535.7(PMS2):c.1929G>T (p.Gln643His) rs786203379 0.00001
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg) rs267608167 0.00001
NM_000535.7(PMS2):c.2007-2A>C rs587782336 0.00001
NM_000535.7(PMS2):c.2033T>C (p.Ile678Thr) rs587782553 0.00001
NM_000535.7(PMS2):c.2035A>G (p.Ile679Val) rs587780047 0.00001
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr) rs778251286 0.00001
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val) rs1060503144 0.00001
NM_000535.7(PMS2):c.2128G>A (p.Glu710Lys) rs1060503131 0.00001
NM_000535.7(PMS2):c.2152C>T (p.Leu718Phe) rs139765160 0.00001
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter) rs876659480 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.2164A>G (p.Arg722Gly) rs1284646352 0.00001
NM_000535.7(PMS2):c.2174+1G>A rs267608172 0.00001
NM_000535.7(PMS2):c.2207A>C (p.Glu736Ala) rs1060503115 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.2266G>T (p.Asp756Tyr) rs762206330 0.00001
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys) rs751235177 0.00001
NM_000535.7(PMS2):c.23+1G>T rs587782074 0.00001
NM_000535.7(PMS2):c.2335G>A (p.Gly779Arg) rs587780053 0.00001
NM_000535.7(PMS2):c.2345A>G (p.Asp782Gly) rs745500014 0.00001
NM_000535.7(PMS2):c.2359A>T (p.Ile787Phe) rs191300933 0.00001
NM_000535.7(PMS2):c.2365A>T (p.Met789Leu) rs377259633 0.00001
NM_000535.7(PMS2):c.2382dup (p.Gly795fs) rs1231406078 0.00001
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile) rs368737800 0.00001
NM_000535.7(PMS2):c.2396G>A (p.Arg799Gln) rs587780055 0.00001
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter) rs63751466 0.00001
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln) rs1060503143 0.00001
NM_000535.7(PMS2):c.2412G>C (p.Lys804Asn) rs547715146 0.00001
NM_000535.7(PMS2):c.2414A>G (p.Gln805Arg) rs967502389 0.00001
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919 0.00001
NM_000535.7(PMS2):c.2422G>A (p.Ala808Thr) rs1306035279 0.00001
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu) rs587782665 0.00001
NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys) rs587782828 0.00001
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter) rs1064794083 0.00001
NM_000535.7(PMS2):c.2506G>A (p.Glu836Lys) rs786201039 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.2567T>G (p.Leu856Arg) rs587782342 0.00001
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala) rs786202383 0.00001
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000535.7(PMS2):c.322G>C (p.Gly108Arg) rs750866397 0.00001
NM_000535.7(PMS2):c.346G>A (p.Ala116Thr) rs751799116 0.00001
NM_000535.7(PMS2):c.353+4A>G rs760538709 0.00001
NM_000535.7(PMS2):c.354-7C>T rs758471869 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.452G>A (p.Arg151His) rs35629870 0.00001
NM_000535.7(PMS2):c.466A>G (p.Thr156Ala) rs786204206 0.00001
NM_000535.7(PMS2):c.473G>T (p.Ser158Ile) rs750354871 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.502G>A (p.Val168Met) rs762645507 0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917 0.00001
NM_000535.7(PMS2):c.537+17C>T rs548285941 0.00001
NM_000535.7(PMS2):c.538-1G>C rs988423880 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000535.7(PMS2):c.596G>A (p.Arg199His) rs876658387 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.647G>T (p.Cys216Phe) rs730881908 0.00001
NM_000535.7(PMS2):c.650C>T (p.Thr217Ile) rs774519794 0.00001
NM_000535.7(PMS2):c.653G>A (p.Gly218Asp) rs368043334 0.00001
NM_000535.7(PMS2):c.667A>G (p.Ile223Val) rs876660067 0.00001
NM_000535.7(PMS2):c.705+13G>A rs776790763 0.00001
NM_000535.7(PMS2):c.706-2A>G rs745487791 0.00001
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358 0.00001
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn) rs1060503111 0.00001
NM_000535.7(PMS2):c.737C>G (p.Pro246Arg) rs1562670885 0.00001
NM_000535.7(PMS2):c.740C>G (p.Pro247Arg) rs1173245928 0.00001
NM_000535.7(PMS2):c.750C>T (p.Ser250=) rs200439295 0.00001
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr) rs775445157 0.00001
NM_000535.7(PMS2):c.791A>G (p.His264Arg) rs1060503129 0.00001
NM_000535.7(PMS2):c.804-2A>G rs1307026290 0.00001
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter) rs786201047 0.00001
NM_000535.7(PMS2):c.825A>G (p.Gln275=) rs876659736 0.00001
NM_000535.7(PMS2):c.825A>T (p.Gln275His) rs876659736 0.00001
NM_000535.7(PMS2):c.847A>C (p.Ser283Arg) rs876660871 0.00001
NM_000535.7(PMS2):c.878A>G (p.Asn293Ser) rs1274671450 0.00001
NM_000535.7(PMS2):c.880C>T (p.Arg294Trp) rs563433235 0.00001
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln) rs373239341 0.00001
NM_000535.7(PMS2):c.884G>A (p.Arg295Gln) rs369763423 0.00001
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955 0.00001
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln) rs375507981 0.00001
NM_000535.7(PMS2):c.904G>T (p.Val302Phe) rs755960629 0.00001
NM_000535.7(PMS2):c.913C>G (p.Leu305Val) rs750420143 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
GRCh37/hg19 7p22.1(chr7:6026390-6027251)x3
NM_000535.5(PMS2):c.-101A>G rs587779325
NM_000535.6(PMS2):c.-49C>T rs952806552
NM_000535.6(PMS2):c.-53G>A rs559634583
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs) rs1554294508
NM_000535.7(PMS2):c.1004A>T (p.Asn335Ile) rs200513014
NM_000535.7(PMS2):c.1009dup (p.Thr337fs) rs1214597671
NM_000535.7(PMS2):c.100_112del (p.Ser34fs)
NM_000535.7(PMS2):c.1016A>G (p.Asp339Gly) rs1783546106
NM_000535.7(PMS2):c.1017_1018insG (p.Lys340fs)
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1026A>C (p.Gln342His) rs561993366
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter) rs1554298786
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp) rs150515238
NM_000535.7(PMS2):c.1048del (p.Leu350fs)
NM_000535.7(PMS2):c.1067del (p.Lys356fs) rs587781395
NM_000535.7(PMS2):c.1071del (p.Ser358fs) rs1783529876
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.10G>C (p.Ala4Pro) rs1786257764
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs) rs1583334346
NM_000535.7(PMS2):c.1112A>T (p.Asn371Ile) rs1783517960
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs) rs587779326
NM_000535.7(PMS2):c.1114G>A (p.Val372Ile) rs1554298669
NM_000535.7(PMS2):c.1117dup (p.Ser373fs) rs1783516106
NM_000535.7(PMS2):c.1119T>A (p.Ser373Arg) rs1060503147
NM_000535.7(PMS2):c.1119_1122del (p.Gln374fs) rs757679199
NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter) rs1437858319
NM_000535.7(PMS2):c.1123C>T (p.Gln375Ter) rs956005905
NM_000535.7(PMS2):c.1130T>C (p.Leu377Pro) rs1583334040
NM_000535.7(PMS2):c.1144+1G>C rs373885654
NM_000535.7(PMS2):c.1144+1G>T rs373885654
NM_000535.7(PMS2):c.1144+1del rs2128746842
NM_000535.7(PMS2):c.1144+2T>A rs267608158
NM_000535.7(PMS2):c.1144+2T>G
NM_000535.7(PMS2):c.1145-2A>G rs1325835006
NM_000535.7(PMS2):c.1145-2_1145-1del
NM_000535.7(PMS2):c.1145-5C>G
NM_000535.7(PMS2):c.1146_1147dup (p.Asn383fs)
NM_000535.7(PMS2):c.1151T>A (p.Leu384Ter)
NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter) rs1554298087
NM_000535.7(PMS2):c.1158_1159del (p.Lys386fs)
NM_000535.7(PMS2):c.1164del (p.His388fs) rs1554298082
NM_000535.7(PMS2):c.1165G>A (p.Ala389Thr) rs1562637025
NM_000535.7(PMS2):c.116del (p.Val39fs) rs1064794152
NM_000535.7(PMS2):c.1171G>T (p.Asp391Tyr) rs1064795020
NM_000535.7(PMS2):c.1180A>G (p.Lys394Glu) rs1583323711
NM_000535.7(PMS2):c.1181del (p.Lys394fs) rs1554298067
NM_000535.7(PMS2):c.1196dup (p.Gln400fs) rs1554298056
NM_000535.7(PMS2):c.11C>T (p.Ala4Val) rs745361721
NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)
NM_000535.7(PMS2):c.1206del (p.Gln402fs) rs1562636427
NM_000535.7(PMS2):c.1211del (p.Pro404fs)
NM_000535.7(PMS2):c.1214C>T (p.Ser405Leu) rs1554298036
NM_000535.7(PMS2):c.1217T>G (p.Leu406Ter)
NM_000535.7(PMS2):c.1219A>G (p.Arg407Gly) rs776725795
NM_000535.7(PMS2):c.121G>T (p.Glu41Ter) rs3209663
NM_000535.7(PMS2):c.1223del (p.Thr408fs)
NM_000535.7(PMS2):c.1231dup (p.Glu411fs)
NM_000535.7(PMS2):c.1233A>C (p.Glu411Asp) rs587780040
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu) rs587778616
NM_000535.7(PMS2):c.1237_1239del (p.Lys413del) rs267608159
NM_000535.7(PMS2):c.1238_1239del (p.Lys413fs)
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg) rs587780041
NM_000535.7(PMS2):c.1239_1240insT (p.Asp414Ter) rs1562635799
NM_000535.7(PMS2):c.1239del (p.Asp414fs) rs267608159
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.1247C>G (p.Ser416Cys) rs1554297981
NM_000535.7(PMS2):c.1249A>G (p.Ile417Val) rs1060503132
NM_000535.7(PMS2):c.1249_1253dup (p.Arg419fs)
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
NM_000535.7(PMS2):c.1262G>T (p.Arg421Leu) rs778482303
NM_000535.7(PMS2):c.1266_1281del (p.Glu422fs)
NM_000535.7(PMS2):c.1267G>A (p.Ala423Thr) rs587778619
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.1281del (p.His428fs) rs1783147885
NM_000535.7(PMS2):c.1289_1292del (p.Thr430fs)
NM_000535.7(PMS2):c.1296del (p.Asn432fs)
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter) rs863224496
NM_000535.7(PMS2):c.129del (p.Glu44fs) rs1060503148
NM_000535.7(PMS2):c.1303C>T (p.His435Tyr) rs148956636
NM_000535.7(PMS2):c.131A>G (p.Glu44Gly) rs876659955
NM_000535.7(PMS2):c.1329_1330dup (p.Arg444fs)
NM_000535.7(PMS2):c.1332del (p.Ser445fs) rs1554297877
NM_000535.7(PMS2):c.1344A>G (p.Gly448=) rs759192470
NM_000535.7(PMS2):c.1345C>T (p.Gln449Ter) rs876661256
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg) rs569947936
NM_000535.7(PMS2):c.1354_1355del (p.Gly452fs)
NM_000535.7(PMS2):c.1359G>A (p.Met453Ile) rs886062401
NM_000535.7(PMS2):c.1366del (p.Ser456fs) rs1583320992
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.7(PMS2):c.1393A>C (p.Lys465Gln) rs1060503135
NM_000535.7(PMS2):c.1397G>T (p.Gly466Val) rs1339878885
NM_000535.7(PMS2):c.139_146del (p.Leu47fs) rs886039615
NM_000535.7(PMS2):c.1408delinsTGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGA (p.Pro470delinsCysLeuLeuAlaLeuGlnValProSerLeuThrLysAlaSerTer)
NM_000535.7(PMS2):c.1415_1418del (p.Lys472fs)
NM_000535.7(PMS2):c.1417G>T (p.Glu473Ter)
NM_000535.7(PMS2):c.1418_1419del (p.Glu473fs) rs1783098862
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.1438G>C (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1447G>A (p.Asp483Asn) rs1583319965
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.146C>T (p.Ala49Val) rs786203255
NM_000535.7(PMS2):c.1472_1485del (p.Glu491fs) rs1562632035
NM_000535.7(PMS2):c.1473G>C (p.Glu491Asp) rs530105089
NM_000535.7(PMS2):c.1485dup (p.His496fs)
NM_000535.7(PMS2):c.1486dup (p.His496fs)
NM_000535.7(PMS2):c.1492_1502del (p.Ser498fs) rs876660459
NM_000535.7(PMS2):c.149del (p.Gly50fs)
NM_000535.7(PMS2):c.1500del (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1500dup (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser) rs1060503127
NM_000535.7(PMS2):c.1545C>A (p.Cys515Ter)
NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)
NM_000535.7(PMS2):c.1556_1557del (p.Tyr519fs)
NM_000535.7(PMS2):c.1556_1559delinsGTGT (p.Tyr519_Ala520delinsCysVal)
NM_000535.7(PMS2):c.1557T>G (p.Tyr519Ter) rs6972869
NM_000535.7(PMS2):c.155C>G (p.Thr52Ser) rs1583418387
NM_000535.7(PMS2):c.155dup (p.Thr52_Asn53insTer)
NM_000535.7(PMS2):c.1564A>G (p.Ser522Gly) rs1554297553
NM_000535.7(PMS2):c.1568C>A (p.Ser523Tyr)
NM_000535.7(PMS2):c.1568C>G (p.Ser523Cys) rs1583318261
NM_000535.7(PMS2):c.1571dup (p.Gly525fs) rs1554297534
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn) rs63750686
NM_000535.7(PMS2):c.1577del (p.Asp526fs)
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs) rs1064793234
NM_000535.7(PMS2):c.1579del (p.Arg527fs) rs1554297523
NM_000535.7(PMS2):c.1583del (p.Gly528fs) rs1783042060
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup) rs587780043
NM_000535.7(PMS2):c.1605_1606del (p.Gln536fs) rs2128726933
NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter) rs1554297488
NM_000535.7(PMS2):c.1627G>C (p.Asp543His)
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer) rs1554306288
NM_000535.7(PMS2):c.163+1G>A rs1064795705
NM_000535.7(PMS2):c.163+1G>T rs1064795705
NM_000535.7(PMS2):c.163+5G>C
NM_000535.7(PMS2):c.1633T>C (p.Ser545Pro) rs1247571278
NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys) rs557906137
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.1639dup (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.164-10A>G
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.164-1G>T
NM_000535.7(PMS2):c.164-2A>C
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter) rs876659162
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
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.1693T>G (p.Leu565Val) rs786202870
NM_000535.7(PMS2):c.1694T>A (p.Leu565Ter)
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>G (p.Pro568Arg) rs869312801
NM_000535.7(PMS2):c.1707delinsAA (p.Asn570fs)
NM_000535.7(PMS2):c.1709dup (p.Asn570fs) rs1783004175
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer) rs1060503126
NM_000535.7(PMS2):c.1716_1718delinsCAACTAAAACG (p.Thr573delinsAsnTer)
NM_000535.7(PMS2):c.1721del (p.Pro574fs) rs1583316404
NM_000535.7(PMS2):c.1721dup (p.Asn575fs)
NM_000535.7(PMS2):c.172_173del (p.Lys57_Leu58insTer) rs1785429855
NM_000535.7(PMS2):c.1730dup (p.Arg578fs) rs587779330
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs) rs1057515572
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys) rs63750534
NM_000535.7(PMS2):c.1733G>A (p.Arg578His) rs63750770
NM_000535.7(PMS2):c.1737del (p.Phe579fs) rs1782994894
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1743del (p.Glu582fs) rs1057517801
NM_000535.7(PMS2):c.1756del (p.Ser586fs)
NM_000535.7(PMS2):c.1759A>C (p.Ser587Arg) rs1554297277
NM_000535.7(PMS2):c.1771del (p.Cys591fs)
NM_000535.7(PMS2):c.1775A>G (p.Gln592Arg)
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.1789del (p.Thr597fs)
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter) rs63750456
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter) rs1064793426
NM_000535.7(PMS2):c.1815del (p.Asp606fs)
NM_000535.7(PMS2):c.1823C>T (p.Ala608Val) rs1562627020
NM_000535.7(PMS2):c.182del (p.Tyr61fs) rs63750793
NM_000535.7(PMS2):c.1831delinsTT (p.Ile611fs)
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_000535.7(PMS2):c.1842A>T (p.Lys614Asn)
NM_000535.7(PMS2):c.1844T>C (p.Val615Ala) rs1060503112
NM_000535.7(PMS2):c.1845del (p.Val616fs)
NM_000535.7(PMS2):c.1849C>T (p.Pro617Ser) rs864622096
NM_000535.7(PMS2):c.1855del (p.Asp619fs) rs1782958183
NM_000535.7(PMS2):c.1859T>C (p.Phe620Ser)
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs) rs756358866
NM_000535.7(PMS2):c.1863del (p.Ser621_Met622insTer) rs1554297164
NM_000535.7(PMS2):c.1864_1865del (p.Met622fs) rs1060503137
NM_000535.7(PMS2):c.1867del (p.Ser623fs)
NM_000535.7(PMS2):c.1874T>C (p.Leu625Ser) rs63750835
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.1876_1880del (p.Ala626fs)
NM_000535.7(PMS2):c.1882_1886dup (p.Lys630fs)
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter) rs1060503138
NM_000535.7(PMS2):c.1895T>G (p.Leu632Ter)
NM_000535.7(PMS2):c.1898A>G (p.His633Arg) rs63750024
NM_000535.7(PMS2):c.1908del (p.Gln637fs) rs1562626121
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter) rs1554297125
NM_000535.7(PMS2):c.190G>T (p.Asp64Tyr)
NM_000535.7(PMS2):c.1912del (p.Gln638fs) rs1562626070
NM_000535.7(PMS2):c.1916G>A (p.Ser639Asn) rs876659769
NM_000535.7(PMS2):c.1921G>T (p.Gly641Trp)
NM_000535.7(PMS2):c.1924del (p.Glu642fs) rs2128721171
NM_000535.7(PMS2):c.1929_1930del (p.Asn644fs) rs1782935566
NM_000535.7(PMS2):c.1930_1937del (p.Asn644fs)
NM_000535.7(PMS2):c.1933del (p.Tyr645fs)
NM_000535.7(PMS2):c.1934A>G (p.Tyr645Cys) rs786203075
NM_000535.7(PMS2):c.1934dup (p.Tyr645Ter)
NM_000535.7(PMS2):c.1936A>G (p.Arg646Gly) rs369582237
NM_000535.7(PMS2):c.1936del (p.Arg646fs) rs1782934080
NM_000535.7(PMS2):c.1938del (p.Lys647fs) rs2128720948
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.193C>G (p.Leu65Val) rs1562695468
NM_000535.7(PMS2):c.1949C>T (p.Ala650Val) rs886062399
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg) rs749141001
NM_000535.7(PMS2):c.1960C>G (p.Pro654Ala)
NM_000535.7(PMS2):c.1970del (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1970dup (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1972C>T (p.Gln658Ter) rs1172837844
NM_000535.7(PMS2):c.1975G>A (p.Ala659Thr) rs786203095
NM_000535.7(PMS2):c.1981G>T (p.Glu661Ter) rs778531080
NM_000535.7(PMS2):c.1985A>T (p.Asp662Val) rs1320079782
NM_000535.7(PMS2):c.1987G>T (p.Glu663Ter) rs1554297061
NM_000535.7(PMS2):c.1998A>T (p.Lys666Asn)
NM_000535.7(PMS2):c.1A>C (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2001_2002del (p.Glu667fs) rs1554297058
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.7(PMS2):c.2006+1G>A rs1554297040
NM_000535.7(PMS2):c.2006+3A>G rs1064793866
NM_000535.7(PMS2):c.2006_2006+4del rs771928911
NM_000535.7(PMS2):c.2007-1G>A rs267608170
NM_000535.7(PMS2):c.2007-1G>C
NM_000535.7(PMS2):c.2007-1_2009del
NM_000535.7(PMS2):c.2007-2A>G rs587782336
NM_000535.7(PMS2):c.2007-4_2007-1delinsACAC rs1562616355
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu) rs1554295980
NM_000535.7(PMS2):c.2011A>G (p.Thr671Ala) rs876661087
NM_000535.7(PMS2):c.2016del (p.Met672fs) rs1554295967
NM_000535.7(PMS2):c.2025A>T (p.Glu675Asp) rs1057522947
NM_000535.7(PMS2):c.2032del (p.Ile678fs)
NM_000535.7(PMS2):c.2039G>A (p.Gly680Asp)
NM_000535.7(PMS2):c.2041C>A (p.Gln681Lys)
NM_000535.7(PMS2):c.2043G>A (p.Gln681=) rs876658953
NM_000535.7(PMS2):c.2043G>C (p.Gln681His)
NM_000535.7(PMS2):c.2050del (p.Leu684fs)
NM_000535.7(PMS2):c.2053G>A (p.Gly685Arg) rs1583299418
NM_000535.7(PMS2):c.205del (p.Ser69fs) rs2128830113
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.2089A>G (p.Ile697Val) rs1554295859
NM_000535.7(PMS2):c.2091A>G (p.Ile697Met) rs1554295855
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.20C>A (p.Ser7Ter)
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu) rs587780048
NM_000535.7(PMS2):c.2101C>T (p.His701Tyr) rs763866879
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
NM_000535.7(PMS2):c.2123del (p.Asn708fs) rs781078805
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser) rs587780049
NM_000535.7(PMS2):c.2135T>C (p.Leu712Pro) rs2128702863
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.2143C>T (p.His715Tyr) rs747494931
NM_000535.7(PMS2):c.2146A>G (p.Thr716Ala) rs772637411
NM_000535.7(PMS2):c.2148del (p.Val717fs)
NM_000535.7(PMS2):c.214G>T (p.Gly72Ter)
NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs) rs1785419483
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg) rs587782559
NM_000535.7(PMS2):c.2156del (p.Gln719fs) rs786201062
NM_000535.7(PMS2):c.2160del (p.Gln721fs)
NM_000535.7(PMS2):c.2168T>C (p.Leu723Pro) rs1246922900
NM_000535.7(PMS2):c.2174+1G>C rs267608172
NM_000535.7(PMS2):c.2174+1G>T
NM_000535.7(PMS2):c.2174+6T>A rs587780050
NM_000535.7(PMS2):c.2174+9G>T rs1782431297
NM_000535.7(PMS2):c.2175-11G>T rs538914402
NM_000535.7(PMS2):c.2175-1G>A
NM_000535.7(PMS2):c.2175-1G>C rs1562605623
NM_000535.7(PMS2):c.2175-2A>G
NM_000535.7(PMS2):c.2179C>T (p.Gln727Ter) rs786202202
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.2192T>A (p.Leu731Ter) rs1060503110
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.2194A>G (p.Thr732Ala) rs587781958
NM_000535.7(PMS2):c.2208del (p.Ala737fs) rs2128683310
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe) rs758225108
NM_000535.7(PMS2):c.2212_2213del (p.Val738fs)
NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)
NM_000535.7(PMS2):c.2233del (p.Ile745fs)
NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter) rs1554294448
NM_000535.7(PMS2):c.223del (p.Gly74_Val75insTer) rs1554304974
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs) rs267608173
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys) rs200824831
NM_000535.7(PMS2):c.2247T>G (p.Asn749Lys)
NM_000535.7(PMS2):c.2249del (p.Gly750fs) rs1583285552
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn) rs762206330
NM_000535.7(PMS2):c.2275+11A>T rs983422739
NM_000535.7(PMS2):c.2275+1G>A rs1554294393
NM_000535.7(PMS2):c.2275+1G>C rs1554294393
NM_000535.7(PMS2):c.2275+1G>T rs1554294393
NM_000535.7(PMS2):c.2275+2T>C rs1562604682
NM_000535.7(PMS2):c.2276-2A>C rs1554294019
NM_000535.7(PMS2):c.2281G>A (p.Val761Ile) rs201914670
NM_000535.7(PMS2):c.2281del (p.Val761fs)
NM_000535.7(PMS2):c.23+1G>A rs587782074
NM_000535.7(PMS2):c.23+6C>T rs779104357
NM_000535.7(PMS2):c.2300T>C (p.Leu767Pro) rs1781853056
NM_000535.7(PMS2):c.2314A>G (p.Thr772Ala)
NM_000535.7(PMS2):c.2315C>T (p.Thr772Ile) rs1781849852
NM_000535.7(PMS2):c.2318G>C (p.Ser773Thr)
NM_000535.7(PMS2):c.2319dup (p.Lys774Ter) rs1554293975
NM_000535.7(PMS2):c.2320_2321insT (p.Lys774fs)
NM_000535.7(PMS2):c.2324A>T (p.Asn775Ile) rs17420802
NM_000535.7(PMS2):c.2324del (p.Asn775fs)
NM_000535.7(PMS2):c.2324dup (p.Asn775fs)
NM_000535.7(PMS2):c.2326_2327del (p.Trp776fs)
NM_000535.7(PMS2):c.232G>C (p.Glu78Gln) rs1785414812
NM_000535.7(PMS2):c.232G>T (p.Glu78Ter)
NM_000535.7(PMS2):c.2331dup (p.Phe778fs)
NM_000535.7(PMS2):c.2335G>T (p.Gly779Ter)
NM_000535.7(PMS2):c.2339C>T (p.Pro780Leu) rs779971866
NM_000535.7(PMS2):c.233A>G (p.Glu78Gly) rs2128829529
NM_000535.7(PMS2):c.2341C>T (p.Gln781Ter) rs587780054
NM_000535.7(PMS2):c.2341del (p.Gln781fs)
NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter) rs1554293920
NM_000535.7(PMS2):c.2360T>C (p.Ile787Thr)
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs) rs267608160
NM_000535.7(PMS2):c.2365A>G (p.Met789Val) rs377259633
NM_000535.7(PMS2):c.236_239del (p.Asn79fs)
NM_000535.7(PMS2):c.2373del (p.Ser791fs)
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser) rs773393960
NM_000535.7(PMS2):c.2381C>G (p.Pro794Arg) rs876659030
NM_000535.7(PMS2):c.2384G>A (p.Gly795Glu) rs786203838
NM_000535.7(PMS2):c.2386dup (p.Val796fs)
NM_000535.7(PMS2):c.2389A>T (p.Met797Leu) rs1433888137
NM_000535.7(PMS2):c.2392T>C (p.Cys798Arg) rs1554293839
NM_000535.7(PMS2):c.2395dup (p.Arg799fs)
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs) rs2128672594
NM_000535.7(PMS2):c.2397del (p.Pro800fs)
NM_000535.7(PMS2):c.24-12_107delinsAAAT rs1554306445
NM_000535.7(PMS2):c.24-1G>A rs1785723689
NM_000535.7(PMS2):c.24-5_26del
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.2410A>T (p.Lys804Ter) rs2128672286
NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter) rs1554293810
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.2425_2426del (p.Ser809fs)
NM_000535.7(PMS2):c.2426C>T (p.Ser809Phe) rs1583279643
NM_000535.7(PMS2):c.2428A>G (p.Arg810Gly) rs1781818536
NM_000535.7(PMS2):c.2435G>T (p.Cys812Phe) rs876661116
NM_000535.7(PMS2):c.2438G>C (p.Arg813Pro)
NM_000535.7(PMS2):c.2444C>A (p.Ser815Ter) rs587779338
NM_000535.7(PMS2):c.2444_2445insTT (p.Val816fs) rs2128671557
NM_000535.7(PMS2):c.2445+1G>A rs876661113
NM_000535.7(PMS2):c.2445+1G>C rs876661113
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.2450del (p.Met817fs)
NM_000535.7(PMS2):c.2464C>G (p.Leu822Val) rs1554292873
NM_000535.7(PMS2):c.2465T>C (p.Leu822Pro) rs587781636
NM_000535.7(PMS2):c.2469_2473del (p.Asn823fs) rs2128658792
NM_000535.7(PMS2):c.2471C>A (p.Thr824Lys) rs1354323014
NM_000535.7(PMS2):c.247_250dup (p.Thr84fs) rs1554304940
NM_000535.7(PMS2):c.2489T>C (p.Leu830Pro) rs1781502574
NM_000535.7(PMS2):c.250+4A>G rs1554304934
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.2501T>C (p.Met834Thr)
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter) rs786201039
NM_000535.7(PMS2):c.2506del (p.Glu836fs) rs2128658092
NM_000535.7(PMS2):c.2509A>G (p.Met837Val)
NM_000535.7(PMS2):c.250A>C (p.Thr84Pro) rs1554304938
NM_000535.7(PMS2):c.251-1G>C
NM_000535.7(PMS2):c.251-1G>T rs764171734
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.2516_2519del (p.His839fs)
NM_000535.7(PMS2):c.2519C>T (p.Pro840Leu) rs1554292787
NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter) rs876661203
NM_000535.7(PMS2):c.2528G>C (p.Cys843Ser)
NM_000535.7(PMS2):c.2529T>A (p.Cys843Ter)
NM_000535.7(PMS2):c.2529_2537del (p.Cys843_Gly846delinsTer)
NM_000535.7(PMS2):c.2529del (p.His845fs)
NM_000535.7(PMS2):c.2531C>A (p.Pro844His) rs587782787
NM_000535.7(PMS2):c.2533del (p.His845fs) rs1064796500
NM_000535.7(PMS2):c.2534A>G (p.His845Arg) rs1554292741
NM_000535.7(PMS2):c.2534A>T (p.His845Leu) rs1554292741
NM_000535.7(PMS2):c.2534del (p.His845fs)
NM_000535.7(PMS2):c.2535T>G (p.His845Gln)
NM_000535.7(PMS2):c.2543C>T (p.Pro848Leu) rs786201850
NM_000535.7(PMS2):c.2549T>C (p.Met850Thr)
NM_000535.7(PMS2):c.2549T>G (p.Met850Arg) rs1781486223
NM_000535.7(PMS2):c.2554C>T (p.His852Tyr) rs754350493
NM_000535.7(PMS2):c.2560G>C (p.Ala854Pro) rs574371474
NM_000535.7(PMS2):c.256A>C (p.Lys86Gln) rs544441867
NM_000535.7(PMS2):c.2587T>G (p.Ter863Gly) rs1060503124
NM_000535.7(PMS2):c.261_265del (p.His88fs)
NM_000535.7(PMS2):c.262dup (p.His88fs)
NM_000535.7(PMS2):c.267_268insGATA (p.Ser90fs)
NM_000535.7(PMS2):c.269C>G (p.Ser90Cys) rs770678468
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs) rs1554304745
NM_000535.7(PMS2):c.26C>T (p.Thr9Ile) rs1210073386
NM_000535.7(PMS2):c.270dup (p.Lys91Ter)
NM_000535.7(PMS2):c.274A>G (p.Ile92Val) rs1333262869
NM_000535.7(PMS2):c.288dup (p.Asp97fs)
NM_000535.7(PMS2):c.296C>T (p.Thr99Ile) rs786202835
NM_000535.7(PMS2):c.298C>T (p.Gln100Ter)
NM_000535.7(PMS2):c.2T>A (p.Met1Lys) rs587780059
NM_000535.7(PMS2):c.2T>G (p.Met1Arg) rs587780059
NM_000535.7(PMS2):c.300G>C (p.Gln100His) rs1064794102
NM_000535.7(PMS2):c.304del (p.Glu102fs)
NM_000535.7(PMS2):c.307A>G (p.Thr103Ala)
NM_000535.7(PMS2):c.311T>C (p.Phe104Ser) rs876660295
NM_000535.7(PMS2):c.312del (p.Phe104fs) rs1785372371
NM_000535.7(PMS2):c.314G>A (p.Gly105Asp) rs876659413
NM_000535.7(PMS2):c.325G>T (p.Glu109Ter) rs63749862
NM_000535.7(PMS2):c.325del (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.325dup (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.332T>C (p.Leu111Pro) rs1554304623
NM_000535.7(PMS2):c.33del (p.Ala12fs) rs1554306605
NM_000535.7(PMS2):c.351del (p.Ser118fs)
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_000535.7(PMS2):c.353+2T>C rs111466480
NM_000535.7(PMS2):c.353+7C>G rs1057520512
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn) rs1394474494
NM_000535.7(PMS2):c.354-1G>A rs786203954
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr) rs587781913
NM_000535.7(PMS2):c.358_365dup (p.Ile122fs)
NM_000535.7(PMS2):c.364A>G (p.Ile122Val) rs761748894
NM_000535.7(PMS2):c.368del (p.Ser123fs) rs2128819251
NM_000535.7(PMS2):c.370A>G (p.Thr124Ala) rs1554304105
NM_000535.7(PMS2):c.375C>A (p.Cys125Ter) rs1562690527
NM_000535.7(PMS2):c.376C>G (p.His126Asp) rs774135207
NM_000535.7(PMS2):c.376C>T (p.His126Tyr) rs774135207
NM_000535.7(PMS2):c.378C>G (p.His126Gln) rs768488890
NM_000535.7(PMS2):c.383C>A (p.Ser128Ter) rs116373169
NM_000535.7(PMS2):c.397_406del (p.Thr133fs)
NM_000535.7(PMS2):c.3G>A (p.Met1Ile) rs1554309086
NM_000535.7(PMS2):c.3G>T (p.Met1Ile) rs1554309086
NM_000535.7(PMS2):c.406A>T (p.Met136Leu) rs35690297
NM_000535.7(PMS2):c.407del (p.Met136fs)
NM_000535.7(PMS2):c.40G>T (p.Ala14Ser) rs876661039
NM_000535.7(PMS2):c.42del (p.Ile15fs) rs2128846824
NM_000535.7(PMS2):c.439A>C (p.Thr147Pro) rs1583403496
NM_000535.7(PMS2):c.444del (p.Tyr149fs)
NM_000535.7(PMS2):c.445del (p.Tyr149fs) rs769742496
NM_000535.7(PMS2):c.446A>C (p.Tyr149Ser) rs1554304003
NM_000535.7(PMS2):c.447C>G (p.Tyr149Ter)
NM_000535.7(PMS2):c.449C>G (p.Pro150Arg) rs778119115
NM_000535.7(PMS2):c.451C>G (p.Arg151Gly) rs758561884
NM_000535.7(PMS2):c.451del (p.Arg151fs) rs1562689635
NM_000535.7(PMS2):c.452G>C (p.Arg151Pro) rs35629870
NM_000535.7(PMS2):c.452G>T (p.Arg151Leu)
NM_000535.7(PMS2):c.452_457delinsCCCC (p.Arg151fs)
NM_000535.7(PMS2):c.452_457delinsCCCCC (p.Arg151fs)
NM_000535.7(PMS2):c.457del (p.Arg153fs) rs1785207289
NM_000535.7(PMS2):c.467_468del (p.Thr156fs)
NM_000535.7(PMS2):c.478C>T (p.Gln160Ter) rs36038802
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter) rs1785199575
NM_000535.7(PMS2):c.486A>C (p.Leu162Phe) rs1479722146
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu) rs587780060
NM_000535.7(PMS2):c.487_497del (p.Phe163fs)
NM_000535.7(PMS2):c.4G>T (p.Glu2Ter) rs1554309080
NM_000535.7(PMS2):c.503dup (p.Arg169fs)
NM_000535.7(PMS2):c.511A>G (p.Lys171Glu)
NM_000535.7(PMS2):c.512del (p.Lys171fs)
NM_000535.7(PMS2):c.51_55del (p.Ile18fs)
NM_000535.7(PMS2):c.51del (p.Ile18fs) rs1785715961
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter) rs1221485925
NM_000535.7(PMS2):c.525_534del (p.Asn176fs) rs1785187053
NM_000535.7(PMS2):c.525del (p.Asn176fs) rs2128815756
NM_000535.7(PMS2):c.527A>T (p.Asn176Ile) rs1785189018
NM_000535.7(PMS2):c.535A>T (p.Lys179Ter) rs1554303861
NM_000535.7(PMS2):c.537+1G>A rs863224450
NM_000535.7(PMS2):c.537+1del rs1064793868
NM_000535.7(PMS2):c.538-1G>A rs988423880
NM_000535.7(PMS2):c.538-2A>C rs758304323
NM_000535.7(PMS2):c.538-2A>T
NM_000535.7(PMS2):c.538-4A>G
NM_000535.7(PMS2):c.538-65_589delinsGCAACATCCAATTGGT
NM_000535.7(PMS2):c.538-8T>C rs922948916
NM_000535.7(PMS2):c.538G>T (p.Glu180Ter)
NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer) rs63751029
NM_000535.7(PMS2):c.551T>C (p.Met184Thr) rs1583387794
NM_000535.7(PMS2):c.554T>G (p.Val185Gly)
NM_000535.7(PMS2):c.555C>T (p.Val185=) rs759078497
NM_000535.7(PMS2):c.556C>T (p.Gln186Ter)
NM_000535.7(PMS2):c.55G>C (p.Asp19His) rs1554306568
NM_000535.7(PMS2):c.55G>T (p.Asp19Tyr) rs1554306568
NM_000535.7(PMS2):c.564dup (p.His189fs)
NM_000535.7(PMS2):c.56A>G (p.Asp19Gly) rs1554306564
NM_000535.7(PMS2):c.572A>C (p.Tyr191Ser) rs375289386
NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)
NM_000535.7(PMS2):c.573C>G (p.Tyr191Ter) rs761134229
NM_000535.7(PMS2):c.580A>G (p.Ile194Val) rs1554302492
NM_000535.7(PMS2):c.584C>A (p.Ser195Ter)
NM_000535.7(PMS2):c.587C>T (p.Ala196Val) rs1554302485
NM_000535.7(PMS2):c.596G>T (p.Arg199Leu)
NM_000535.7(PMS2):c.598del (p.Arg199_Val200insTer)
NM_000535.7(PMS2):c.613C>T (p.Gln205Ter) rs758250810
NM_000535.7(PMS2):c.615G>C (p.Gln205His) rs752499497
NM_000535.7(PMS2):c.622C>T (p.Gln208Ter)
NM_000535.7(PMS2):c.624A>T (p.Gln208His)
NM_000535.7(PMS2):c.629A>G (p.Lys210Arg)
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter) rs760228510
NM_000535.7(PMS2):c.634C>T (p.Gln212Ter) rs1562678257
NM_000535.7(PMS2):c.636G>A (p.Gln212=) rs1784804225
NM_000535.7(PMS2):c.641T>G (p.Val214Gly) rs864622706
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs) rs1784802468
NM_000535.7(PMS2):c.652G>C (p.Gly218Arg) rs878854055
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter) rs1064796190
NM_000535.7(PMS2):c.659G>T (p.Ser220Ile) rs769967916
NM_000535.7(PMS2):c.65C>A (p.Ser22Ter) rs767028531
NM_000535.7(PMS2):c.65C>G (p.Ser22Ter) rs767028531
NM_000535.7(PMS2):c.662C>T (p.Pro221Leu) rs878854056
NM_000535.7(PMS2):c.663del (p.Ser222fs) rs2128799910
NM_000535.7(PMS2):c.671A>G (p.Lys224Arg)
NM_000535.7(PMS2):c.672G>C (p.Lys224Asn) rs748141595
NM_000535.7(PMS2):c.677A>G (p.Asn226Ser) rs778534735
NM_000535.7(PMS2):c.685T>C (p.Ser229Pro) rs730881909
NM_000535.7(PMS2):c.688G>A (p.Val230Met) rs1562677528
NM_000535.7(PMS2):c.68_69del (p.Val23fs)
NM_000535.7(PMS2):c.690_691del (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.703C>T (p.Gln235Ter) rs63750261
NM_000535.7(PMS2):c.705+1G>A rs267608147
NM_000535.7(PMS2):c.705+1G>T rs267608147
NM_000535.7(PMS2):c.705+2T>C rs1784783734
NM_000535.7(PMS2):c.705G>A (p.Gln235=) rs876660872
NM_000535.7(PMS2):c.706-11T>C rs1185117521
NM_000535.7(PMS2):c.706-14T>A rs1057523232
NM_000535.7(PMS2):c.706-1G>C
NM_000535.7(PMS2):c.706-1G>T
NM_000535.7(PMS2):c.706-2A>T rs745487791
NM_000535.7(PMS2):c.706-3delinsTA rs1436961952
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.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu) rs587780061
NM_000535.7(PMS2):c.715C>T (p.Leu239Phe) rs1554301543
NM_000535.7(PMS2):c.716T>G (p.Leu239Arg) rs1060503136
NM_000535.7(PMS2):c.717_723dup (p.Phe242fs) rs1583375182
NM_000535.7(PMS2):c.722C>T (p.Pro241Leu) rs1554301523
NM_000535.7(PMS2):c.726del (p.Phe242fs) rs1583375132
NM_000535.7(PMS2):c.730C>G (p.Gln244Glu) rs1562671039
NM_000535.7(PMS2):c.730C>T (p.Gln244Ter) rs1562671039
NM_000535.7(PMS2):c.735dup (p.Pro246fs) rs2128788145
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.739C>A (p.Pro247Thr) rs878854058
NM_000535.7(PMS2):c.73C>T (p.Gln25Ter) rs1554306528
NM_000535.7(PMS2):c.740dup (p.Pro247_Ser248insTer)
NM_000535.7(PMS2):c.741_742insTGAAG (p.Ser248Ter) rs756653193
NM_000535.7(PMS2):c.741del (p.Ser248fs) rs1583374709
NM_000535.7(PMS2):c.742dup (p.Ser248fs) rs1784536095
NM_000535.7(PMS2):c.745_746insCTGCCCACAC (p.Asp249fs)
NM_000535.7(PMS2):c.746_753del (p.Asp249fs) rs587782710
NM_000535.7(PMS2):c.746_755del (p.Asp249fs)
NM_000535.7(PMS2):c.748_749del (p.Ser250fs) rs1554301486
NM_000535.7(PMS2):c.750del (p.Val251fs)
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer) rs1064794905
NM_000535.7(PMS2):c.757G>T (p.Glu253Ter)
NM_000535.7(PMS2):c.75G>C (p.Gln25His) rs1554306525
NM_000535.7(PMS2):c.75G>T (p.Gln25His) rs1554306525
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.765C>G (p.Tyr255Ter)
NM_000535.7(PMS2):c.767del (p.Gly256fs)
NM_000535.7(PMS2):c.769_778del (p.Leu257fs)
NM_000535.7(PMS2):c.770T>G (p.Leu257Trp) rs1554301463
NM_000535.7(PMS2):c.774_776del (p.Cys259del)
NM_000535.7(PMS2):c.774_780delinsTACG (p.Cys259_Ser260delinsThr) rs1554301436
NM_000535.7(PMS2):c.778_780delinsACG (p.Ser260Thr)
NM_000535.7(PMS2):c.778_781del (p.Ser260fs)
NM_000535.7(PMS2):c.779C>A (p.Ser260Tyr) rs777286241
NM_000535.7(PMS2):c.781del (p.Asp261fs)
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.790_803+5del
NM_000535.7(PMS2):c.793_803+7del
NM_000535.7(PMS2):c.79del (p.Cys27fs)
NM_000535.7(PMS2):c.7C>T (p.Arg3Ter) rs763939668
NM_000535.7(PMS2):c.802del (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.802dup (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.803+1G>A rs1562669585
NM_000535.7(PMS2):c.803+1G>T rs1562669585
NM_000535.7(PMS2):c.803+2T>G
NM_000535.7(PMS2):c.803+3A>T
NM_000535.7(PMS2):c.803+7_803+8insCTTTTTTAGTAAGTACTA
NM_000535.7(PMS2):c.804-10T>G rs267608151
NM_000535.7(PMS2):c.804-11A>G
NM_000535.7(PMS2):c.804-12A>G rs1221537446
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.804-1G>C
NM_000535.7(PMS2):c.804-1G>T
NM_000535.7(PMS2):c.812del (p.Gly271fs)
NM_000535.7(PMS2):c.817A>G (p.Ile273Val) rs587778621
NM_000535.7(PMS2):c.821C>G (p.Ser274Ter)
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter) rs587780062
NM_000535.7(PMS2):c.827G>A (p.Cys276Tyr) rs1554300806
NM_000535.7(PMS2):c.828C>A (p.Cys276Ter) rs757324104
NM_000535.7(PMS2):c.82T>G (p.Ser28Ala) rs587781908
NM_000535.7(PMS2):c.832C>A (p.His278Asn) rs1554300796
NM_000535.7(PMS2):c.832dup (p.His278fs)
NM_000535.7(PMS2):c.841G>T (p.Gly281Ter)
NM_000535.7(PMS2):c.846del (p.Ser283fs) rs1057515571
NM_000535.7(PMS2):c.848G>C (p.Ser283Thr)
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.857_864del (p.Asp286fs) rs267608154
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu) rs201921616
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.862C>T (p.Gln288Ter) rs1583363851
NM_000535.7(PMS2):c.862_863del (p.Gln288fs) rs63750246
NM_000535.7(PMS2):c.863A>G (p.Gln288Arg) rs1784301984
NM_000535.7(PMS2):c.868T>C (p.Phe290Leu) rs587782833
NM_000535.7(PMS2):c.869del (p.Phe290fs) rs2128775109
NM_000535.7(PMS2):c.870del (p.Phe291fs) rs1784299649
NM_000535.7(PMS2):c.873del (p.Phe291fs) rs1261282733
NM_000535.7(PMS2):c.874A>T (p.Ile292Phe) rs587781281
NM_000535.7(PMS2):c.878dup (p.Asn293fs) rs1344095646
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
NM_000535.7(PMS2):c.890G>C (p.Cys297Ser) rs869312802
NM_000535.7(PMS2):c.893A>G (p.Asp298Gly) rs876658970
NM_000535.7(PMS2):c.895C>A (p.Pro299Thr) rs1562663421
NM_000535.7(PMS2):c.8G>T (p.Arg3Leu) rs375507981
NM_000535.7(PMS2):c.903+1G>A rs1554300689
NM_000535.7(PMS2):c.903+1G>C rs1554300689
NM_000535.7(PMS2):c.903+1G>T rs1554300689
NM_000535.7(PMS2):c.903+20_903+21del rs746861817
NM_000535.7(PMS2):c.903+2T>C rs878854059
NM_000535.7(PMS2):c.903+3A>G rs1562663258
NM_000535.7(PMS2):c.903G>A (p.Lys301=) rs267608153
NM_000535.7(PMS2):c.903G>C (p.Lys301Asn)
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.904-1G>A rs779064342
NM_000535.7(PMS2):c.904-2A>C rs587781339
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.909C>A (p.Cys303Ter)
NM_000535.7(PMS2):c.917T>A (p.Val306Glu) rs786201878
NM_000535.7(PMS2):c.91G>T (p.Val31Leu) rs786203763
NM_000535.7(PMS2):c.925G>T (p.Val309Phe) rs763718441
NM_000535.7(PMS2):c.929A>G (p.Tyr310Cys) rs372172981
NM_000535.7(PMS2):c.938A>G (p.Tyr313Cys) rs587782513
NM_000535.7(PMS2):c.939T>A (p.Tyr313Ter) rs1562651617
NM_000535.7(PMS2):c.939T>G (p.Tyr313Ter) rs1562651617
NM_000535.7(PMS2):c.942T>A (p.Asn314Lys)
NM_000535.7(PMS2):c.947_948del (p.His316fs) rs878854060
NM_000535.7(PMS2):c.947dup (p.His316fs)
NM_000535.7(PMS2):c.948C>A (p.His316Gln) rs1219573982
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys) rs143277125
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter) rs143277125
NM_000535.7(PMS2):c.94G>T (p.Val32Leu) rs977251189
NM_000535.7(PMS2):c.955C>T (p.Pro319Ser) rs1248142939
NM_000535.7(PMS2):c.960del (p.Phe320fs)
NM_000535.7(PMS2):c.972del (p.Asn324fs)
NM_000535.7(PMS2):c.985T>C (p.Ser329Pro)
NM_000535.7(PMS2):c.986C>G (p.Ser329Ter) rs1461669945
NM_000535.7(PMS2):c.988+1G>C rs757110564
NM_000535.7(PMS2):c.988+1G>T rs757110564
NM_000535.7(PMS2):c.989-1G>C
NM_000535.7(PMS2):c.989-1G>T rs587780064
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)
NM_000535.7:c.(1144+1_1145-1)_(2174+1_2175-1)dup
NM_000535.7:c.804-70_2445+71del

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