ClinVar Miner

List of variants in gene PMS2 reported by Color Diagnostics, LLC DBA Color Health

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1262
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319 0.82058
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_000535.7(PMS2):c.705+17A>G rs62456182 0.33782
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_000535.7(PMS2):c.2007-4G>A rs1805326 0.12350
NM_000535.7(PMS2):c.2007-7C>T rs55954143 0.12135
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000 0.11447
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_000535.7(PMS2):c.164-108G>C rs12538294 0.06053
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_000535.7(PMS2):c.2006+6G>A rs111905775 0.04390
NM_000535.7(PMS2):c.288C>T (p.Ala96=) rs12532895 0.03944
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869 0.01065
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_000535.7(PMS2):c.1609G>A (p.Glu537Lys) rs115052399 0.00370
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_000535.7(PMS2):c.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.2395C>T (p.Arg799Trp) rs149202766 0.00142
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687 0.00088
NM_000535.7(PMS2):c.251-20T>G rs149343081 0.00086
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442 0.00048
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro) rs148069478 0.00045
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813 0.00041
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814 0.00039
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400 0.00038
NM_000535.7(PMS2):c.1864A>G (p.Met622Val) rs370853512 0.00035
NM_000535.7(PMS2):c.988+11T>C rs139969671 0.00032
NM_000535.7(PMS2):c.706-3C>T rs1229860023 0.00030
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000535.7(PMS2):c.1242C>T (p.Asp414=) rs142839559 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_000535.7(PMS2):c.-7T>C rs199660792 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met) rs370196722 0.00016
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp) rs375968016 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_000535.7(PMS2):c.1944T>C (p.Phe648=) rs144011908 0.00015
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000535.7(PMS2):c.240C>T (p.Phe80=) rs143162541 0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys) rs376042544 0.00012
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590 0.00012
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796 0.00012
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364 0.00012
NM_000535.7(PMS2):c.1248C>A (p.Ser416=) rs780709321 0.00011
NM_000535.7(PMS2):c.1533G>A (p.Thr511=) rs542520309 0.00011
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His) rs370236216 0.00011
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00011
NM_000535.7(PMS2):c.1689A>G (p.Arg563=) rs551226281 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000535.7(PMS2):c.340C>T (p.Leu114Phe) rs757441871 0.00010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg) rs151251082 0.00010
NM_000535.7(PMS2):c.823C>G (p.Gln275Glu) rs587780062 0.00010
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023 0.00009
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783 0.00009
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215 0.00009
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile) rs373611083 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_000535.7(PMS2):c.1656T>C (p.His552=) rs113726095 0.00008
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748 0.00008
NM_000535.7(PMS2):c.735G>T (p.Leu245=) rs373366661 0.00008
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704 0.00008
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065 0.00007
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211 0.00007
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln) rs587781909 0.00007
NM_000535.7(PMS2):c.226G>C (p.Glu76Gln) rs371682056 0.00007
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala) rs777095030 0.00007
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459 0.00007
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884 0.00007
NM_000535.7(PMS2):c.1128A>C (p.Pro376=) rs367774545 0.00006
NM_000535.7(PMS2):c.1145-10G>A rs533551639 0.00006
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val) rs587780039 0.00006
NM_000535.7(PMS2):c.1233A>T (p.Glu411Asp) rs587780040 0.00006
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462 0.00006
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg) rs141084758 0.00006
NM_000535.7(PMS2):c.1500C>T (p.Ser500=) rs116094787 0.00006
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln) rs368516768 0.00006
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly) rs143235330 0.00006
NM_000535.7(PMS2):c.1703C>A (p.Pro568Gln) rs869312801 0.00006
NM_000535.7(PMS2):c.1937G>T (p.Arg646Met) rs372341850 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_000535.7(PMS2):c.-4A>G rs544503598 0.00005
NM_000535.7(PMS2):c.101G>T (p.Ser34Ile) rs370612538 0.00005
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly) rs144389038 0.00005
NM_000535.7(PMS2):c.682G>A (p.Gly228Ser) rs376258383 0.00005
NM_000535.7(PMS2):c.71A>C (p.His24Pro) rs139233015 0.00005
NM_000535.7(PMS2):c.738C>G (p.Pro246=) rs202094399 0.00005
NM_000535.7(PMS2):c.1197G>A (p.Lys399=) rs757730609 0.00004
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721 0.00004
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg) rs536111818 0.00004
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala) rs587781382 0.00004
NM_000535.7(PMS2):c.12T>G (p.Ala4=) rs776136427 0.00004
NM_000535.7(PMS2):c.13G>C (p.Glu5Gln) rs372539944 0.00004
NM_000535.7(PMS2):c.1489G>A (p.Gly497Ser) rs749826312 0.00004
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433 0.00004
NM_000535.7(PMS2):c.164-16A>G rs887187101 0.00004
NM_000535.7(PMS2):c.166C>G (p.Leu56Val) rs371011390 0.00004
NM_000535.7(PMS2):c.178G>A (p.Asp60Asn) rs587782176 0.00004
NM_000535.7(PMS2):c.1806C>G (p.Ala602=) rs376046767 0.00004
NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu) rs199700509 0.00004
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln) rs587780044 0.00004
NM_000535.7(PMS2):c.1936A>C (p.Arg646=) rs369582237 0.00004
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr) rs769554577 0.00004
NM_000535.7(PMS2):c.1A>G (p.Met1Val) rs587779333 0.00004
NM_000535.7(PMS2):c.2049C>T (p.Asn683=) rs752950007 0.00004
NM_000535.7(PMS2):c.2334C>T (p.Phe778=) rs768674294 0.00004
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_000535.7(PMS2):c.2358G>C (p.Leu786=) rs535056715 0.00004
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln) rs63751284 0.00004
NM_000535.7(PMS2):c.422G>C (p.Gly141Ala) rs376931673 0.00004
NM_000535.7(PMS2):c.455C>G (p.Pro152Arg) rs876660161 0.00004
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00004
NM_000535.7(PMS2):c.591C>T (p.Gly197=) rs748518694 0.00004
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser) rs777903002 0.00004
NM_000535.7(PMS2):c.705+12C>T rs368486366 0.00004
NM_000535.7(PMS2):c.765C>T (p.Tyr255=) rs573125799 0.00004
NM_000535.7(PMS2):c.831G>A (p.Thr277=) rs116481522 0.00004
NM_000535.7(PMS2):c.916G>A (p.Val306Met) rs587780063 0.00004
NM_000535.7(PMS2):c.961G>A (p.Val321Ile) rs377043696 0.00004
NM_000535.7(PMS2):c.1041G>A (p.Glu347=) rs150515238 0.00003
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057 0.00003
NM_000535.7(PMS2):c.1145-16G>A rs576825560 0.00003
NM_000535.7(PMS2):c.1145-17C>T rs587781110 0.00003
NM_000535.7(PMS2):c.120G>C (p.Lys40Asn) rs1060504843 0.00003
NM_000535.7(PMS2):c.1364C>G (p.Ser455Cys) rs748698776 0.00003
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg) rs146848345 0.00003
NM_000535.7(PMS2):c.1485G>A (p.Gly495=) rs143865305 0.00003
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr) rs63750686 0.00003
NM_000535.7(PMS2):c.1616C>T (p.Ala539Val) rs138222146 0.00003
NM_000535.7(PMS2):c.1668A>G (p.Glu556=) rs876659780 0.00003
NM_000535.7(PMS2):c.1675G>A (p.Gly559Arg) rs751153838 0.00003
NM_000535.7(PMS2):c.1720C>T (p.Pro574Ser) rs758018736 0.00003
NM_000535.7(PMS2):c.1732C>A (p.Arg578Ser) rs63750534 0.00003
NM_000535.7(PMS2):c.1837A>C (p.Lys613Gln) rs63751230 0.00003
NM_000535.7(PMS2):c.1901A>G (p.His634Arg) rs767904893 0.00003
NM_000535.7(PMS2):c.1954A>T (p.Ile652Phe) rs748927376 0.00003
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys) rs587780045 0.00003
NM_000535.7(PMS2):c.2006+12A>C rs534044419 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly) rs587780052 0.00003
NM_000535.7(PMS2):c.2338C>A (p.Pro780Thr) rs1064796041 0.00003
NM_000535.7(PMS2):c.2517C>T (p.His839=) rs747600189 0.00003
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser) rs864622274 0.00003
NM_000535.7(PMS2):c.355G>A (p.Asp119Asn) rs587781913 0.00003
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu) rs761748894 0.00003
NM_000535.7(PMS2):c.408G>A (p.Met136Ile) rs1064794077 0.00003
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp) rs573374779 0.00003
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp) rs876661233 0.00003
NM_000535.7(PMS2):c.681C>T (p.Ile227=) rs188813057 0.00003
NM_000535.7(PMS2):c.706-4T>C rs769605987 0.00003
NM_000535.7(PMS2):c.751G>A (p.Val251Met) rs142434011 0.00003
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp) rs182246929 0.00003
NM_000535.7(PMS2):c.885G>A (p.Arg295=) rs786201615 0.00003
NM_000535.7(PMS2):c.886C>T (p.Pro296Ser) rs375553553 0.00003
NM_000535.7(PMS2):c.88C>A (p.Gln30Lys) rs141577476 0.00003
NM_000535.7(PMS2):c.903+4T>A rs753803330 0.00003
NM_000535.7(PMS2):c.904-20A>G rs375114786 0.00003
NM_000535.7(PMS2):c.915C>T (p.Leu305=) rs767392742 0.00003
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878 0.00003
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp) rs114185660 0.00003
NM_000535.7(PMS2):c.-1C>A rs369681753 0.00002
NM_000535.7(PMS2):c.1048C>T (p.Leu350Phe) rs587782875 0.00002
NM_000535.7(PMS2):c.1080A>G (p.Ile360Met) rs567102013 0.00002
NM_000535.7(PMS2):c.1103A>G (p.Asn368Ser) rs777814445 0.00002
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248 0.00002
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 0.00002
NM_000535.7(PMS2):c.1309C>T (p.Pro437Ser) rs200726484 0.00002
NM_000535.7(PMS2):c.1318C>G (p.Pro440Ala) rs762894051 0.00002
NM_000535.7(PMS2):c.133A>G (p.Asn45Asp) rs1402531091 0.00002
NM_000535.7(PMS2):c.1357A>G (p.Met453Val) rs587780722 0.00002
NM_000535.7(PMS2):c.1372A>C (p.Thr458Pro) rs779306532 0.00002
NM_000535.7(PMS2):c.139C>G (p.Leu47Val) rs766203500 0.00002
NM_000535.7(PMS2):c.1435C>G (p.His479Asp) rs376344586 0.00002
NM_000535.7(PMS2):c.1470G>A (p.Val490=) rs786203076 0.00002
NM_000535.7(PMS2):c.1480T>G (p.Ser494Ala) rs587782500 0.00002
NM_000535.7(PMS2):c.1499C>G (p.Ser500Cys) rs375905814 0.00002
NM_000535.7(PMS2):c.149G>A (p.Gly50Asp) rs539285592 0.00002
NM_000535.7(PMS2):c.1539T>C (p.Ser513=) rs786202950 0.00002
NM_000535.7(PMS2):c.1598T>C (p.Val533Ala) rs1365849986 0.00002
NM_000535.7(PMS2):c.1629C>T (p.Asp543=) rs111673299 0.00002
NM_000535.7(PMS2):c.164-107G>A rs1368586199 0.00002
NM_000535.7(PMS2):c.1680T>C (p.Cys560=) rs752143026 0.00002
NM_000535.7(PMS2):c.1729A>G (p.Lys577Glu) rs754339271 0.00002
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter) rs63750451 0.00002
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys) rs778531080 0.00002
NM_000535.7(PMS2):c.2174+6T>C rs587780050 0.00002
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val) rs150630090 0.00002
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410 0.00002
NM_000535.7(PMS2):c.23+7G>C rs878854047 0.00002
NM_000535.7(PMS2):c.24-3T>C rs749485884 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000535.7(PMS2):c.290A>G (p.Asp97Gly) rs1175866554 0.00002
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser) rs767775907 0.00002
NM_000535.7(PMS2):c.378C>T (p.His126=) rs768488890 0.00002
NM_000535.7(PMS2):c.412G>C (p.Asp138His) rs863224678 0.00002
NM_000535.7(PMS2):c.433C>A (p.Gln145Lys) rs786204133 0.00002
NM_000535.7(PMS2):c.537+6G>A rs1358613918 0.00002
NM_000535.7(PMS2):c.537+9A>G rs759013264 0.00002
NM_000535.7(PMS2):c.598G>A (p.Val200Ile) rs587778620 0.00002
NM_000535.7(PMS2):c.705+3A>G rs764334813 0.00002
NM_000535.7(PMS2):c.706-13T>C rs730881918 0.00002
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633 0.00002
NM_000535.7(PMS2):c.803+19A>G rs761928990 0.00002
NM_000535.7(PMS2):c.852A>G (p.Ser284=) rs766177007 0.00002
NM_000535.7(PMS2):c.868T>G (p.Phe290Val) rs587782833 0.00002
NM_000535.7(PMS2):c.964G>A (p.Val322Ile) rs587782208 0.00002
NM_000535.7(PMS2):c.972C>A (p.Asn324Lys) rs182085259 0.00002
NM_000535.7(PMS2):c.989A>G (p.Glu330Gly) rs761913816 0.00002
NM_000535.7(PMS2):c.-18G>C rs200624125 0.00001
NM_000535.7(PMS2):c.-19C>T rs769408250 0.00001
NM_000535.7(PMS2):c.-6G>A rs1260600705 0.00001
NM_000535.7(PMS2):c.-7_-5del rs1064794112 0.00001
NM_000535.7(PMS2):c.1027A>G (p.Ile343Val) rs1181117995 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.108C>A (p.Ser36Arg) rs1368578377 0.00001
NM_000535.7(PMS2):c.1092T>A (p.Asp364Glu) rs370066853 0.00001
NM_000535.7(PMS2):c.1095T>C (p.Ser365=) rs763278132 0.00001
NM_000535.7(PMS2):c.1098T>C (p.Asp366=) rs1554298688 0.00001
NM_000535.7(PMS2):c.1113T>C (p.Asn371=) rs989130272 0.00001
NM_000535.7(PMS2):c.1116C>T (p.Val372=) rs876659729 0.00001
NM_000535.7(PMS2):c.1126C>T (p.Pro376Ser) rs730881911 0.00001
NM_000535.7(PMS2):c.1134G>T (p.Leu378=) rs754576828 0.00001
NM_000535.7(PMS2):c.1139T>G (p.Val380Gly) rs748971523 0.00001
NM_000535.7(PMS2):c.114G>A (p.Ala38=) rs558032755 0.00001
NM_000535.7(PMS2):c.1164T>A (p.His388Gln) rs768480216 0.00001
NM_000535.7(PMS2):c.1167A>G (p.Ala389=) rs748920792 0.00001
NM_000535.7(PMS2):c.1183C>T (p.Pro395Ser) rs745306528 0.00001
NM_000535.7(PMS2):c.1186A>G (p.Met396Val) rs863224675 0.00001
NM_000535.7(PMS2):c.1189G>A (p.Val397Ile) rs573123885 0.00001
NM_000535.7(PMS2):c.118A>G (p.Lys40Glu) rs786202542 0.00001
NM_000535.7(PMS2):c.1192G>C (p.Glu398Gln) rs1171400724 0.00001
NM_000535.7(PMS2):c.1201G>C (p.Asp401His) rs1284362486 0.00001
NM_000535.7(PMS2):c.1225G>C (p.Gly409Arg) rs864622553 0.00001
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr) rs370752614 0.00001
NM_000535.7(PMS2):c.1252T>G (p.Ser418Ala) rs1473720483 0.00001
NM_000535.7(PMS2):c.1253C>T (p.Ser418Phe) rs587782640 0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617 0.00001
NM_000535.7(PMS2):c.1262G>A (p.Arg421Gln) rs778482303 0.00001
NM_000535.7(PMS2):c.1264G>A (p.Glu422Lys) rs587782175 0.00001
NM_000535.7(PMS2):c.1281T>A (p.Arg427=) rs570853668 0.00001
NM_000535.7(PMS2):c.1299G>A (p.Lys433=) rs760727820 0.00001
NM_000535.7(PMS2):c.1305C>T (p.His435=) rs763954903 0.00001
NM_000535.7(PMS2):c.130G>C (p.Glu44Gln) rs786202669 0.00001
NM_000535.7(PMS2):c.1316C>T (p.Thr439Ile) rs1187749040 0.00001
NM_000535.7(PMS2):c.1344A>T (p.Gly448=) rs759192470 0.00001
NM_000535.7(PMS2):c.1356T>C (p.Gly452=) rs786202946 0.00001
NM_000535.7(PMS2):c.1361T>C (p.Leu454Pro) rs772659239 0.00001
NM_000535.7(PMS2):c.1363T>C (p.Ser455Pro) rs1554297839 0.00001
NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe) rs748698776 0.00001
NM_000535.7(PMS2):c.1368T>C (p.Ser456=) rs587780723 0.00001
NM_000535.7(PMS2):c.1384A>G (p.Ile462Val) rs200116037 0.00001
NM_000535.7(PMS2):c.1386C>T (p.Ile462=) rs750448069 0.00001
NM_000535.7(PMS2):c.1390G>A (p.Asp464Asn) rs1394213772 0.00001
NM_000535.7(PMS2):c.1397G>C (p.Gly466Ala) rs1339878885 0.00001
NM_000535.7(PMS2):c.1398C>T (p.Gly466=) rs752666485 0.00001
NM_000535.7(PMS2):c.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.1477G>A (p.Asp493Asn) rs148642064 0.00001
NM_000535.7(PMS2):c.1481C>T (p.Ser494Leu) rs587782602 0.00001
NM_000535.7(PMS2):c.1494C>T (p.Ser498=) rs770181766 0.00001
NM_000535.7(PMS2):c.14A>T (p.Glu5Val) rs876659080 0.00001
NM_000535.7(PMS2):c.1508C>A (p.Ser503Tyr) rs777920014 0.00001
NM_000535.7(PMS2):c.1515G>A (p.Gly505=) rs753856135 0.00001
NM_000535.7(PMS2):c.1519A>G (p.Ser507Gly) rs63751028 0.00001
NM_000535.7(PMS2):c.1520G>A (p.Ser507Asn) rs766256390 0.00001
NM_000535.7(PMS2):c.1530C>T (p.Asp510=) rs63750826 0.00001
NM_000535.7(PMS2):c.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.1602C>G (p.Asp534Glu) rs1554297497 0.00001
NM_000535.7(PMS2):c.163+4A>G rs864622749 0.00001
NM_000535.7(PMS2):c.1630G>A (p.Asp544Asn) rs876660139 0.00001
NM_000535.7(PMS2):c.164-11A>T rs763662038 0.00001
NM_000535.7(PMS2):c.1642G>A (p.Asp548Asn) rs374591423 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.1686T>G (p.Phe562Leu) rs764749700 0.00001
NM_000535.7(PMS2):c.1687C>A (p.Arg563=) rs587778618 0.00001
NM_000535.7(PMS2):c.1705A>G (p.Thr569Ala) rs762151417 0.00001
NM_000535.7(PMS2):c.1713C>T (p.Leu571=) rs745774944 0.00001
NM_000535.7(PMS2):c.1715C>T (p.Ala572Val) rs770625733 0.00001
NM_000535.7(PMS2):c.1720C>G (p.Pro574Ala) rs758018736 0.00001
NM_000535.7(PMS2):c.1723A>G (p.Asn575Asp) rs142506484 0.00001
NM_000535.7(PMS2):c.1724A>G (p.Asn575Ser) rs1424781748 0.00001
NM_000535.7(PMS2):c.1728A>G (p.Thr576=) rs754542046 0.00001
NM_000535.7(PMS2):c.1729A>C (p.Lys577Gln) rs754339271 0.00001
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947 0.00001
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304 0.00001
NM_000535.7(PMS2):c.1761T>G (p.Ser587Arg) rs1311237867 0.00001
NM_000535.7(PMS2):c.1765G>C (p.Asp589His) rs749727182 0.00001
NM_000535.7(PMS2):c.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.1855G>T (p.Asp619Tyr) rs1179605136 0.00001
NM_000535.7(PMS2):c.1876G>A (p.Ala626Thr) rs587779331 0.00001
NM_000535.7(PMS2):c.187G>A (p.Val63Met) rs772216832 0.00001
NM_000535.7(PMS2):c.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.1935C>T (p.Tyr645=) rs786201737 0.00001
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg) rs267608167 0.00001
NM_000535.7(PMS2):c.1953G>T (p.Lys651Asn) rs1488971334 0.00001
NM_000535.7(PMS2):c.1962T>C (p.Pro654=) rs1782925759 0.00001
NM_000535.7(PMS2):c.1963G>A (p.Gly655Arg) rs1064793236 0.00001
NM_000535.7(PMS2):c.2013G>A (p.Thr671=) rs771513870 0.00001
NM_000535.7(PMS2):c.2035A>G (p.Ile679Val) rs587780047 0.00001
NM_000535.7(PMS2):c.2050C>T (p.Leu684=) rs1410726810 0.00001
NM_000535.7(PMS2):c.2109G>A (p.Thr703=) rs775355718 0.00001
NM_000535.7(PMS2):c.2128G>A (p.Glu710Lys) rs1060503131 0.00001
NM_000535.7(PMS2):c.2148C>T (p.Thr716=) rs748404138 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.2265C>T (p.Ile755=) rs145646046 0.00001
NM_000535.7(PMS2):c.2276-14T>C rs1178201870 0.00001
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys) rs751235177 0.00001
NM_000535.7(PMS2):c.23+11C>T rs1554308925 0.00001
NM_000535.7(PMS2):c.23+21T>C rs751482162 0.00001
NM_000535.7(PMS2):c.23+6C>A rs779104357 0.00001
NM_000535.7(PMS2):c.23+9G>A rs1046717239 0.00001
NM_000535.7(PMS2):c.2335G>A (p.Gly779Arg) rs587780053 0.00001
NM_000535.7(PMS2):c.2346C>T (p.Asp782=) rs139031103 0.00001
NM_000535.7(PMS2):c.2365A>T (p.Met789Leu) rs377259633 0.00001
NM_000535.7(PMS2):c.2373C>T (p.Ser791=) rs864622765 0.00001
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile) rs368737800 0.00001
NM_000535.7(PMS2):c.2396G>A (p.Arg799Gln) rs587780055 0.00001
NM_000535.7(PMS2):c.2412G>C (p.Lys804Asn) rs547715146 0.00001
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919 0.00001
NM_000535.7(PMS2):c.2422G>A (p.Ala808Thr) rs1306035279 0.00001
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu) rs587782665 0.00001
NM_000535.7(PMS2):c.243A>G (p.Glu81=) rs1057521802 0.00001
NM_000535.7(PMS2):c.244G>A (p.Gly82Ser) rs754191682 0.00001
NM_000535.7(PMS2):c.2469C>T (p.Asn823=) rs878854048 0.00001
NM_000535.7(PMS2):c.2476G>A (p.Glu826Lys) rs587782828 0.00001
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter) rs1064794083 0.00001
NM_000535.7(PMS2):c.2506G>A (p.Glu836Lys) rs786201039 0.00001
NM_000535.7(PMS2):c.251-12A>C rs562762722 0.00001
NM_000535.7(PMS2):c.251-2A>T rs587779340 0.00001
NM_000535.7(PMS2):c.251-9C>G rs1064793639 0.00001
NM_000535.7(PMS2):c.25A>G (p.Thr9Ala) rs786202383 0.00001
NM_000535.7(PMS2):c.267A>G (p.Thr89=) rs876659181 0.00001
NM_000535.7(PMS2):c.27A>C (p.Thr9=) rs1060504842 0.00001
NM_000535.7(PMS2):c.289G>A (p.Asp97Asn) rs1395998044 0.00001
NM_000535.7(PMS2):c.299A>C (p.Gln100Pro) rs747771951 0.00001
NM_000535.7(PMS2):c.29A>C (p.Glu10Ala) rs878854050 0.00001
NM_000535.7(PMS2):c.2T>C (p.Met1Thr) rs587780059 0.00001
NM_000535.7(PMS2):c.319C>T (p.Arg107Trp) rs188006077 0.00001
NM_000535.7(PMS2):c.320G>T (p.Arg107Leu) rs63751284 0.00001
NM_000535.7(PMS2):c.322G>C (p.Gly108Arg) rs750866397 0.00001
NM_000535.7(PMS2):c.339A>T (p.Ser113=) rs951573893 0.00001
NM_000535.7(PMS2):c.33T>A (p.Pro11=) rs780178572 0.00001
NM_000535.7(PMS2):c.342T>C (p.Leu114=) rs1205203356 0.00001
NM_000535.7(PMS2):c.346G>A (p.Ala116Thr) rs751799116 0.00001
NM_000535.7(PMS2):c.34G>A (p.Ala12Thr) rs1481967985 0.00001
NM_000535.7(PMS2):c.353+4A>G rs760538709 0.00001
NM_000535.7(PMS2):c.353+7C>A rs1057520512 0.00001
NM_000535.7(PMS2):c.354-5C>G rs200591010 0.00001
NM_000535.7(PMS2):c.354-7C>T rs758471869 0.00001
NM_000535.7(PMS2):c.354C>T (p.Ser118=) rs760615315 0.00001
NM_000535.7(PMS2):c.357T>C (p.Asp119=) rs1269688714 0.00001
NM_000535.7(PMS2):c.381A>G (p.Ala127=) rs1060504835 0.00001
NM_000535.7(PMS2):c.386C>T (p.Ala129Val) rs752284380 0.00001
NM_000535.7(PMS2):c.392T>C (p.Val131Ala) rs1785226633 0.00001
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter) rs63750871 0.00001
NM_000535.7(PMS2):c.403C>G (p.Leu135Val) rs876658423 0.00001
NM_000535.7(PMS2):c.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.473G>T (p.Ser158Ile) rs750354871 0.00001
NM_000535.7(PMS2):c.474C>T (p.Ser158=) rs767414243 0.00001
NM_000535.7(PMS2):c.479A>G (p.Gln160Arg) rs1554303922 0.00001
NM_000535.7(PMS2):c.47A>G (p.Lys16Arg) rs1554306581 0.00001
NM_000535.7(PMS2):c.480G>A (p.Gln160=) rs1426242773 0.00001
NM_000535.7(PMS2):c.494C>T (p.Thr165Ile) rs587781541 0.00001
NM_000535.7(PMS2):c.496C>T (p.Leu166=) rs876659249 0.00001
NM_000535.7(PMS2):c.502G>A (p.Val168Met) rs762645507 0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917 0.00001
NM_000535.7(PMS2):c.513G>A (p.Lys171=) rs1280423254 0.00001
NM_000535.7(PMS2):c.523A>G (p.Arg175Gly) rs1395650223 0.00001
NM_000535.7(PMS2):c.529A>G (p.Ile177Val) rs1377323953 0.00001
NM_000535.7(PMS2):c.537+17C>T rs548285941 0.00001
NM_000535.7(PMS2):c.537+4C>T rs864622272 0.00001
NM_000535.7(PMS2):c.538-16T>G rs763941291 0.00001
NM_000535.7(PMS2):c.538-1G>C rs988423880 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000535.7(PMS2):c.573C>T (p.Tyr191=) rs761134229 0.00001
NM_000535.7(PMS2):c.574T>G (p.Cys192Gly) rs773752935 0.00001
NM_000535.7(PMS2):c.577A>G (p.Ile193Val) rs1784819145 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.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.67G>C (p.Val23Leu) rs374830220 0.00001
NM_000535.7(PMS2):c.687T>C (p.Ser229=) rs786201508 0.00001
NM_000535.7(PMS2):c.6G>A (p.Glu2=) rs774177383 0.00001
NM_000535.7(PMS2):c.705+13G>A rs776790763 0.00001
NM_000535.7(PMS2):c.706-2dup rs1490493105 0.00001
NM_000535.7(PMS2):c.711A>G (p.Gln237=) rs368608818 0.00001
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn) rs1060503111 0.00001
NM_000535.7(PMS2):c.720T>A (p.Ile240=) rs777148436 0.00001
NM_000535.7(PMS2):c.733C>A (p.Leu245Met) rs201375580 0.00001
NM_000535.7(PMS2):c.737C>G (p.Pro246Arg) rs1562670885 0.00001
NM_000535.7(PMS2):c.740C>G (p.Pro247Arg) rs1173245928 0.00001
NM_000535.7(PMS2):c.748T>C (p.Ser250Pro) rs766690351 0.00001
NM_000535.7(PMS2):c.750C>T (p.Ser250=) rs200439295 0.00001
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr) rs775445157 0.00001
NM_000535.7(PMS2):c.771G>A (p.Leu257=) rs746652254 0.00001
NM_000535.7(PMS2):c.791A>G (p.His264Arg) rs1060503129 0.00001
NM_000535.7(PMS2):c.793A>G (p.Asn265Asp) rs1241742968 0.00001
NM_000535.7(PMS2):c.795T>C (p.Asn265=) rs766667186 0.00001
NM_000535.7(PMS2):c.803+4A>G rs756312205 0.00001
NM_000535.7(PMS2):c.804-15A>G rs1448706115 0.00001
NM_000535.7(PMS2):c.804-20A>T rs1057520346 0.00001
NM_000535.7(PMS2):c.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.82T>C (p.Ser28Pro) rs587781908 0.00001
NM_000535.7(PMS2):c.844A>G (p.Arg282Gly) rs1554300793 0.00001
NM_000535.7(PMS2):c.847A>C (p.Ser283Arg) rs876660871 0.00001
NM_000535.7(PMS2):c.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.903+20G>C rs750189082 0.00001
NM_000535.7(PMS2):c.904-11A>G rs748113698 0.00001
NM_000535.7(PMS2):c.904-17C>A rs758503886 0.00001
NM_000535.7(PMS2):c.904G>T (p.Val302Phe) rs755960629 0.00001
NM_000535.7(PMS2):c.913C>G (p.Leu305Val) rs750420143 0.00001
NM_000535.7(PMS2):c.932A>G (p.His311Arg) rs1562651786 0.00001
NM_000535.7(PMS2):c.934A>G (p.Met312Val) rs786202567 0.00001
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter) rs200640585 0.00001
NM_000535.7(PMS2):c.962T>C (p.Val321Ala) rs186448384 0.00001
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly) rs587782852 0.00001
NM_000535.7(PMS2):c.988+4A>G rs763959308 0.00001
NM_000535.7(PMS2):c.994G>A (p.Val332Ile) rs1236095389 0.00001
NM_000535.7(PMS2):c.9A>G (p.Arg3=) rs1554309048 0.00001
NM_000535.7(PMS2):c.*2C>G
NM_000535.7(PMS2):c.*3G>A rs776493195
NM_000535.7(PMS2):c.-12G>A rs1208325722
NM_000535.7(PMS2):c.-13G>A
NM_000535.7(PMS2):c.-14C>G rs757845032
NM_000535.7(PMS2):c.-16A>G rs1786268058
NM_000535.7(PMS2):c.-17G>T rs1017353894
NM_000535.7(PMS2):c.-18G>A rs200624125
NM_000535.7(PMS2):c.-20G>A rs1340897315
NM_000535.7(PMS2):c.-2C>T rs876658209
NM_000535.7(PMS2):c.-5C>A rs786202272
NM_000535.7(PMS2):c.-8_-6del rs755165788
NM_000535.7(PMS2):c.-9G>C rs778155088
NM_000535.7(PMS2):c.1003A>G (p.Asn335Asp) rs1783551937
NM_000535.7(PMS2):c.1004A>T (p.Asn335Ile) rs200513014
NM_000535.7(PMS2):c.1009A>G (p.Thr337Ala)
NM_000535.7(PMS2):c.1011T>G (p.Thr337=)
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.1028T>G (p.Ile343Ser) rs1783541846
NM_000535.7(PMS2):c.1032G>A (p.Leu344=) rs1554298791
NM_000535.7(PMS2):c.1032G>C (p.Leu344Phe) rs1554298791
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter) rs1554298786
NM_000535.7(PMS2):c.1037A>G (p.Gln346Arg) rs752268571
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp) rs150515238
NM_000535.7(PMS2):c.1051T>C (p.Leu351=) rs1554298759
NM_000535.7(PMS2):c.1051T>G (p.Leu351Val) rs1554298759
NM_000535.7(PMS2):c.1052T>G (p.Leu351Trp) rs1783536235
NM_000535.7(PMS2):c.1053G>C (p.Leu351Phe) rs1060503145
NM_000535.7(PMS2):c.1059A>G (p.Ala353=) rs876660930
NM_000535.7(PMS2):c.105A>G (p.Leu35=) rs947238940
NM_000535.7(PMS2):c.1063T>A (p.Leu355Ile) rs1783533003
NM_000535.7(PMS2):c.1068G>A (p.Lys356=) rs528499793
NM_000535.7(PMS2):c.106A>G (p.Ser36Gly) rs587781918
NM_000535.7(PMS2):c.1070C>T (p.Thr357Ile) rs980612510
NM_000535.7(PMS2):c.1072T>A (p.Ser358Thr) rs767755376
NM_000535.7(PMS2):c.1073C>G (p.Ser358Cys) rs762299041
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1079T>A (p.Ile360Lys) rs1554298715
NM_000535.7(PMS2):c.1079T>C (p.Ile360Thr) rs1554298715
NM_000535.7(PMS2):c.1081G>A (p.Gly361Arg) rs1562644325
NM_000535.7(PMS2):c.1090G>A (p.Asp364Asn) rs2128747657
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.1107G>A (p.Lys369=) rs1554298683
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs) rs587779326
NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter) rs1437858319
NM_000535.7(PMS2):c.1123C>G (p.Gln375Glu) rs956005905
NM_000535.7(PMS2):c.1139T>C (p.Val380Ala) rs748971523
NM_000535.7(PMS2):c.1144+14A>G rs1201720145
NM_000535.7(PMS2):c.1144+20C>G rs750883624
NM_000535.7(PMS2):c.1144+4A>G rs1554298642
NM_000535.7(PMS2):c.1145-11C>T rs558565527
NM_000535.7(PMS2):c.1145-13C>T
NM_000535.7(PMS2):c.1145-15T>C rs1783194597
NM_000535.7(PMS2):c.1145-16G>T rs576825560
NM_000535.7(PMS2):c.1145-1G>A
NM_000535.7(PMS2):c.1145-5C>T rs267608157
NM_000535.7(PMS2):c.1145-7T>G rs1554298099
NM_000535.7(PMS2):c.1145-8T>G rs1554298100
NM_000535.7(PMS2):c.1150_1151del (p.Leu384fs) rs2128737358
NM_000535.7(PMS2):c.1164del (p.His388fs) rs1554298082
NM_000535.7(PMS2):c.1167A>C (p.Ala389=) rs748920792
NM_000535.7(PMS2):c.1168G>T (p.Ala390Ser) rs1583323871
NM_000535.7(PMS2):c.1171G>C (p.Asp391His) rs1064795020
NM_000535.7(PMS2):c.1171G>T (p.Asp391Tyr) rs1064795020
NM_000535.7(PMS2):c.1181del (p.Lys394fs) rs1554298067
NM_000535.7(PMS2):c.1182G>T (p.Lys394Asn) rs1197824645
NM_000535.7(PMS2):c.1196dup (p.Gln400fs) rs1554298056
NM_000535.7(PMS2):c.1197G>T (p.Lys399Asn) rs757730609
NM_000535.7(PMS2):c.1199A>G (p.Gln400Arg) rs148069478
NM_000535.7(PMS2):c.11C>A (p.Ala4Asp) rs745361721
NM_000535.7(PMS2):c.11C>T (p.Ala4Val) rs745361721
NM_000535.7(PMS2):c.1201G>A (p.Asp401Asn) rs1284362486
NM_000535.7(PMS2):c.1203T>C (p.Asp401=) rs1057522327
NM_000535.7(PMS2):c.1204C>A (p.Gln402Lys) rs587782789
NM_000535.7(PMS2):c.1206A>G (p.Gln402=)
NM_000535.7(PMS2):c.1206del (p.Gln402fs) rs1562636427
NM_000535.7(PMS2):c.1208C>T (p.Ser403Phe) rs1004189664
NM_000535.7(PMS2):c.1209C>G (p.Ser403=) rs147399413
NM_000535.7(PMS2):c.1209C>T (p.Ser403=) rs147399413
NM_000535.7(PMS2):c.1213T>C (p.Ser405Pro)
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.1221G>T (p.Arg407Ser) rs1305178511
NM_000535.7(PMS2):c.1224T>C (p.Thr408=) rs1554298007
NM_000535.7(PMS2):c.1226G>T (p.Gly409Val) rs1554298002
NM_000535.7(PMS2):c.1233A>C (p.Glu411Asp) rs587780040
NM_000535.7(PMS2):c.1233A>G (p.Glu411=) rs587780040
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu) rs587778616
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg) rs587780041
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.1243G>C (p.Val415Leu) rs138387687
NM_000535.7(PMS2):c.1243G>T (p.Val415Leu) rs138387687
NM_000535.7(PMS2):c.1245G>A (p.Val415=) rs370701800
NM_000535.7(PMS2):c.1247C>T (p.Ser416Phe) rs1554297981
NM_000535.7(PMS2):c.1249A>C (p.Ile417Leu) rs1060503132
NM_000535.7(PMS2):c.1249A>G (p.Ile417Val) rs1060503132
NM_000535.7(PMS2):c.1254C>G (p.Ser418=) rs2128735114
NM_000535.7(PMS2):c.1255A>G (p.Arg419Gly) rs1554297975
NM_000535.7(PMS2):c.1259T>C (p.Leu420Pro) rs747495075
NM_000535.7(PMS2):c.1260G>A (p.Leu420=) rs1554297974
NM_000535.7(PMS2):c.1262G>T (p.Arg421Leu) rs778482303
NM_000535.7(PMS2):c.1265A>G (p.Glu422Gly) rs1562635355
NM_000535.7(PMS2):c.1268C>A (p.Ala423Asp) rs756883400
NM_000535.7(PMS2):c.1268C>T (p.Ala423Val) rs756883400
NM_000535.7(PMS2):c.127G>A (p.Val43Ile) rs587780042
NM_000535.7(PMS2):c.1281del (p.His428fs) rs1783147885
NM_000535.7(PMS2):c.1283A>G (p.His428Arg) rs1583322096
NM_000535.7(PMS2):c.1285A>G (p.Thr429Ala) rs1450566410
NM_000535.7(PMS2):c.1286C>G (p.Thr429Arg) rs1554297938
NM_000535.7(PMS2):c.1296C>G (p.Asn432Lys) rs1562635023
NM_000535.7(PMS2):c.1303C>T (p.His435Tyr) rs148956636
NM_000535.7(PMS2):c.1306A>G (p.Ser436Gly) rs1583321782
NM_000535.7(PMS2):c.1318C>A (p.Pro440Thr) rs762894051
NM_000535.7(PMS2):c.1325C>A (p.Pro442Gln) rs1783133970
NM_000535.7(PMS2):c.1326A>G (p.Pro442=) rs878854034
NM_000535.7(PMS2):c.1327A>G (p.Arg443Gly) rs1222691058
NM_000535.7(PMS2):c.1329A>G (p.Arg443=) rs192720342
NM_000535.7(PMS2):c.1329A>T (p.Arg443Ser) rs192720342
NM_000535.7(PMS2):c.1331G>T (p.Arg444Met) rs1241272236
NM_000535.7(PMS2):c.1332G>C (p.Arg444Ser) rs1554297874
NM_000535.7(PMS2):c.1332del (p.Ser445fs) rs1554297877
NM_000535.7(PMS2):c.1334G>A (p.Ser445Asn) rs1554297872
NM_000535.7(PMS2):c.1335C>T (p.Ser445=) rs1562634446
NM_000535.7(PMS2):c.1338T>C (p.Pro446=) rs786203033
NM_000535.7(PMS2):c.1348A>G (p.Lys450Glu) rs1060503142
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.1356T>G (p.Gly452=) rs786202946
NM_000535.7(PMS2):c.1359G>T (p.Met453Ile) rs886062401
NM_000535.7(PMS2):c.135C>G (p.Asn45Lys) rs1408915250
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser) rs587778615
NM_000535.7(PMS2):c.1362G>C (p.Leu454=) rs1583321045
NM_000535.7(PMS2):c.1373C>A (p.Thr458Asn) rs755348833
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.1382C>T (p.Ala461Val) rs1060503133
NM_000535.7(PMS2):c.1383C>T (p.Ala461=) rs756335943
NM_000535.7(PMS2):c.1395A>C (p.Lys465Asn) rs1208428952
NM_000535.7(PMS2):c.1397G>A (p.Gly466Asp) rs1339878885
NM_000535.7(PMS2):c.1399G>C (p.Val467Leu) rs373611083
NM_000535.7(PMS2):c.1402C>T (p.Leu468=) rs759306219
NM_000535.7(PMS2):c.1418_1419del (p.Glu473fs) rs1783098862
NM_000535.7(PMS2):c.1423G>A (p.Val475Met) rs864622579
NM_000535.7(PMS2):c.1428T>C (p.Ser476=) rs1562632936
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.143A>T (p.Asp48Val)
NM_000535.7(PMS2):c.1443C>T (p.Pro481=)
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met) rs1805323
NM_000535.7(PMS2):c.1455G>C (p.Thr485=)
NM_000535.7(PMS2):c.1457A>G (p.Asp486Gly) rs899935666
NM_000535.7(PMS2):c.1462G>T (p.Ala488Ser)
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.1471_1473del (p.Glu491del) rs764854869
NM_000535.7(PMS2):c.1472_1485del (p.Glu491fs) rs1562632035
NM_000535.7(PMS2):c.1473G>A (p.Glu491=)
NM_000535.7(PMS2):c.1476G>A (p.Lys492=) rs766309532
NM_000535.7(PMS2):c.1477G>C (p.Asp493His) rs148642064
NM_000535.7(PMS2):c.1479C>G (p.Asp493Glu) rs773048076
NM_000535.7(PMS2):c.1482G>A (p.Ser494=) rs864622398
NM_000535.7(PMS2):c.1482G>T (p.Ser494=) rs864622398
NM_000535.7(PMS2):c.1488C>G (p.His496Gln)
NM_000535.7(PMS2):c.1488_1489insTGCC (p.Gly497fs)
NM_000535.7(PMS2):c.1489G>C (p.Gly497Arg) rs749826312
NM_000535.7(PMS2):c.1491C>G (p.Gly497=) rs1783073609
NM_000535.7(PMS2):c.1496C>T (p.Thr499Ile) rs746064480
NM_000535.7(PMS2):c.1507T>G (p.Ser503Ala) rs864622497
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly) rs1254121331
NM_000535.7(PMS2):c.1513G>T (p.Gly505Trp) rs1554297662
NM_000535.7(PMS2):c.1518C>T (p.Phe506=) rs1554297654
NM_000535.7(PMS2):c.152C>T (p.Ala51Val) rs1583418405
NM_000535.7(PMS2):c.1531A>T (p.Thr511Ser) rs2228007
NM_000535.7(PMS2):c.1531_1532inv (p.Thr511Val)
NM_000535.7(PMS2):c.1533G>T (p.Thr511=) rs542520309
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser) rs1060503127
NM_000535.7(PMS2):c.153C>A (p.Ala51=)
NM_000535.7(PMS2):c.153C>T (p.Ala51=) rs2128843882
NM_000535.7(PMS2):c.1540C>A (p.His514Asn) rs878854036
NM_000535.7(PMS2):c.1545C>T (p.Cys515=) rs1057520347
NM_000535.7(PMS2):c.1546_1551del (p.Ser516_Ser517del) rs970418297
NM_000535.7(PMS2):c.1548C>T (p.Ser516=)
NM_000535.7(PMS2):c.1550G>A (p.Ser517Asn) rs1562630934
NM_000535.7(PMS2):c.1551C>T (p.Ser517=) rs587782479
NM_000535.7(PMS2):c.1554G>C (p.Glu518Asp) rs1562630820
NM_000535.7(PMS2):c.1554G>T (p.Glu518Asp)
NM_000535.7(PMS2):c.1564A>C (p.Ser522Arg) rs1554297553
NM_000535.7(PMS2):c.1569C>T (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1570C>T (p.Pro524Ser) rs756127972
NM_000535.7(PMS2):c.1571C>T (p.Pro524Leu) rs63751257
NM_000535.7(PMS2):c.1574G>A (p.Gly525Glu)
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn) rs63750686
NM_000535.7(PMS2):c.1576del (p.Asp526fs) rs863224497
NM_000535.7(PMS2):c.1578C>G (p.Asp526Glu) rs63750236
NM_000535.7(PMS2):c.1578C>T (p.Asp526=) rs63750236
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs) rs1064793234
NM_000535.7(PMS2):c.157A>G (p.Asn53Asp) rs1554306309
NM_000535.7(PMS2):c.1580G>A (p.Arg527Lys) rs1783042729
NM_000535.7(PMS2):c.1585T>C (p.Ser529Pro) rs1783041110
NM_000535.7(PMS2):c.1587G>T (p.Ser529=) rs786201709
NM_000535.7(PMS2):c.1589A>G (p.Gln530Arg) rs1783039464
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.1597G>A (p.Val533Met) rs1783036349
NM_000535.7(PMS2):c.15G>A (p.Glu5=) rs1554309012
NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter) rs1554297488
NM_000535.7(PMS2):c.1611G>A (p.Glu537=) rs1562629833
NM_000535.7(PMS2):c.1614A>G (p.Lys538=) rs1554297465
NM_000535.7(PMS2):c.1615G>T (p.Ala539Ser) rs1783031685
NM_000535.7(PMS2):c.1617G>A (p.Ala539=) rs776931237
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+1G>A rs1064795705
NM_000535.7(PMS2):c.163+1G>T rs1064795705
NM_000535.7(PMS2):c.1632C>A (p.Asp544Glu) rs786203439
NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys) rs557906137
NM_000535.7(PMS2):c.1639dup (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.164-108G>A rs12538294
NM_000535.7(PMS2):c.164-108G>T rs12538294
NM_000535.7(PMS2):c.164-108_164-107delinsCA rs1785445205
NM_000535.7(PMS2):c.164-109_164-108delinsGC rs1785445943
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.164-5T>G rs1554305071
NM_000535.7(PMS2):c.1646T>C (p.Val549Ala) rs779150753
NM_000535.7(PMS2):c.1647G>A (p.Val549=) rs1554297410
NM_000535.7(PMS2):c.164A>T (p.Asp55Val) rs587781846
NM_000535.7(PMS2):c.1652G>T (p.Cys551Phe) rs1554297409
NM_000535.7(PMS2):c.1664A>G (p.Gln555Arg) rs745836140
NM_000535.7(PMS2):c.1666G>C (p.Glu556Gln) rs786202656
NM_000535.7(PMS2):c.1671T>C (p.Asp557=) rs1554297386
NM_000535.7(PMS2):c.1672A>G (p.Thr558Ala) rs781106967
NM_000535.7(PMS2):c.1673C>A (p.Thr558Asn) rs114037612
NM_000535.7(PMS2):c.1673_1674inv (p.Thr558Arg)
NM_000535.7(PMS2):c.1679G>A (p.Cys560Tyr) rs757989905
NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu) rs764749700
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter) rs587778618
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln) rs587780725
NM_000535.7(PMS2):c.1694T>C (p.Leu565Ser) rs1783008091
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg) rs869312801
NM_000535.7(PMS2):c.1709A>T (p.Asn570Ile)
NM_000535.7(PMS2):c.1714G>T (p.Ala572Ser) rs63751023
NM_000535.7(PMS2):c.1717A>G (p.Thr573Ala)
NM_000535.7(PMS2):c.1718C>A (p.Thr573Asn) rs876660076
NM_000535.7(PMS2):c.171G>C (p.Lys57Asn) rs760031402
NM_000535.7(PMS2):c.1727C>A (p.Thr576Lys)
NM_000535.7(PMS2):c.1727C>T (p.Thr576Ile) rs1554297301
NM_000535.7(PMS2):c.172_173del (p.Lys57_Leu58insTer) rs1785429855
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs) rs1057515572
NM_000535.7(PMS2):c.1732C>T (p.Arg578Cys) rs63750534
NM_000535.7(PMS2):c.1733G>A (p.Arg578His) rs63750770
NM_000535.7(PMS2):c.1733G>T (p.Arg578Leu) rs63750770
NM_000535.7(PMS2):c.1737del (p.Phe579fs) rs1782994894
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1739A>C (p.Lys580Thr) rs1782993888
NM_000535.7(PMS2):c.1743del (p.Glu582fs) rs1057517801
NM_000535.7(PMS2):c.1748A>T (p.Glu583Val) rs1562627848
NM_000535.7(PMS2):c.1753C>T (p.Leu585Phe) rs63750947
NM_000535.7(PMS2):c.1756T>C (p.Ser586Pro) rs1562627766
NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile) rs762100304
NM_000535.7(PMS2):c.1766A>T (p.Asp589Val) rs774767419
NM_000535.7(PMS2):c.1768A>G (p.Ile590Val) rs63750476
NM_000535.7(PMS2):c.176del (p.Lys59fs) rs1785429311
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg) rs764252217
NM_000535.7(PMS2):c.1772G>C (p.Cys591Ser) rs1583315717
NM_000535.7(PMS2):c.1778del (p.Lys593fs) rs766389591
NM_000535.7(PMS2):c.177G>C (p.Lys59Asn) rs1785429079
NM_000535.7(PMS2):c.1783G>C (p.Val595Leu) rs1171070752
NM_000535.7(PMS2):c.1784T>C (p.Val595Ala) rs1554297236
NM_000535.7(PMS2):c.1788_1789delinsGT (p.Asn596_Thr597delinsLysSer) rs1554297233
NM_000535.7(PMS2):c.1789A>C (p.Thr597Pro) rs1805318
NM_000535.7(PMS2):c.1795G>A (p.Asp599Asn) rs1380574195
NM_000535.7(PMS2):c.1796A>G (p.Asp599Gly) rs878854039
NM_000535.7(PMS2):c.179A>G (p.Asp60Gly) rs771348650
NM_000535.7(PMS2):c.1802C>T (p.Ser601Leu)
NM_000535.7(PMS2):c.1806C>T (p.Ala602=) rs376046767
NM_000535.7(PMS2):c.1808C>T (p.Ser603Phe) rs770841005
NM_000535.7(PMS2):c.1812G>C (p.Gln604His) rs63750788
NM_000535.7(PMS2):c.1813G>A (p.Val605Ile) rs1782971627
NM_000535.7(PMS2):c.1823C>T (p.Ala608Val) rs1562627020
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.1832T>C (p.Ile611Thr) rs1782966912
NM_000535.7(PMS2):c.1833T>G (p.Ile611Met) rs1554297188
NM_000535.7(PMS2):c.183T>C (p.Tyr61=) rs1562695554
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter) rs63750490
NM_000535.7(PMS2):c.1841A>G (p.Lys614Arg) rs771892867
NM_000535.7(PMS2):c.1843G>A (p.Val615Ile) rs1782962260
NM_000535.7(PMS2):c.1847T>C (p.Val616Ala) rs1583314800
NM_000535.7(PMS2):c.1849C>T (p.Pro617Ser) rs864622096
NM_000535.7(PMS2):c.184G>A (p.Gly62Arg) rs1182171111
NM_000535.7(PMS2):c.1851C>T (p.Pro617=) rs1554297171
NM_000535.7(PMS2):c.1852C>G (p.Leu618Val) rs1782959405
NM_000535.7(PMS2):c.1854G>C (p.Leu618=) rs876660784
NM_000535.7(PMS2):c.1857C>A (p.Asp619Glu) rs876661271
NM_000535.7(PMS2):c.1860T>C (p.Phe620=) rs1583314594
NM_000535.7(PMS2):c.1867A>T (p.Ser623Cys) rs1562626548
NM_000535.7(PMS2):c.1868G>A (p.Ser623Asn) rs1562626526
NM_000535.7(PMS2):c.1874T>C (p.Leu625Ser) rs63750835
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer) rs786203073
NM_000535.7(PMS2):c.1877C>A (p.Ala626Asp) rs786203121
NM_000535.7(PMS2):c.1882C>G (p.Arg628Gly) rs63750451
NM_000535.7(PMS2):c.1887A>G (p.Ile629Met) rs1583314135
NM_000535.7(PMS2):c.1890G>A (p.Lys630=) rs1782948207
NM_000535.7(PMS2):c.1897C>T (p.His633Tyr) rs1583314065
NM_000535.7(PMS2):c.1898A>G (p.His633Arg) rs63750024
NM_000535.7(PMS2):c.189G>A (p.Val63=) rs786203074
NM_000535.7(PMS2):c.18C>G (p.Ser6Arg) rs1221290124
NM_000535.7(PMS2):c.1902T>C (p.His634=) rs376335675
NM_000535.7(PMS2):c.1906G>A (p.Ala636Thr) rs876658863
NM_000535.7(PMS2):c.1907C>T (p.Ala636Val) rs1782943354
NM_000535.7(PMS2):c.1908del (p.Gln637fs) rs1562626121
NM_000535.7(PMS2):c.1909_1913del (p.Gln637fs) rs1562626011
NM_000535.7(PMS2):c.1916G>A (p.Ser639Asn) rs876659769
NM_000535.7(PMS2):c.1921G>A (p.Gly641Arg) rs1782938207
NM_000535.7(PMS2):c.1922G>T (p.Gly641Val) rs1554297114
NM_000535.7(PMS2):c.1929_1930del (p.Asn644fs) rs1782935566
NM_000535.7(PMS2):c.1934A>G (p.Tyr645Cys) rs786203075
NM_000535.7(PMS2):c.1936A>T (p.Arg646Trp) rs369582237
NM_000535.7(PMS2):c.1937G>C (p.Arg646Thr) rs372341850
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.193C>A (p.Leu65Ile) rs1562695468
NM_000535.7(PMS2):c.193C>G (p.Leu65Val) rs1562695468
NM_000535.7(PMS2):c.1948G>C (p.Ala650Pro) rs1782930647
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg) rs749141001
NM_000535.7(PMS2):c.1955T>A (p.Ile652Asn) rs1554297091
NM_000535.7(PMS2):c.195T>C (p.Leu65=) rs780080040
NM_000535.7(PMS2):c.1966G>A (p.Glu656Lys) rs876658931
NM_000535.7(PMS2):c.1975G>A (p.Ala659Thr) rs786203095
NM_000535.7(PMS2):c.1976C>T (p.Ala659Val)
NM_000535.7(PMS2):c.1984G>C (p.Asp662His) rs1562625087
NM_000535.7(PMS2):c.1985A>T (p.Asp662Val) rs1320079782
NM_000535.7(PMS2):c.1989A>G (p.Glu663=) rs1562625015
NM_000535.7(PMS2):c.198T>C (p.Ile66=) rs1554305014
NM_000535.7(PMS2):c.1A>T (p.Met1Leu) rs587779333
NM_000535.7(PMS2):c.2000A>G (p.Glu667Gly) rs1404270894
NM_000535.7(PMS2):c.2001G>A (p.Glu667=) rs1562624926
NM_000535.7(PMS2):c.2002A>G (p.Ile668Val) rs869320619
NM_000535.7(PMS2):c.2005A>T (p.Ser669Cys) rs1554297049
NM_000535.7(PMS2):c.2006+20C>G rs1554297036
NM_000535.7(PMS2):c.2006+3A>G rs1064793866
NM_000535.7(PMS2):c.2006G>A (p.Ser669Asn)
NM_000535.7(PMS2):c.2007-3C>T
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu) rs878854041
NM_000535.7(PMS2):c.2049C>G (p.Asn683Lys) rs752950007
NM_000535.7(PMS2):c.2067C>A (p.Thr689=) rs1583299269
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.2075A>G (p.Asn692Ser) rs1562615666
NM_000535.7(PMS2):c.2083A>C (p.Ile695Leu) rs1313824270
NM_000535.7(PMS2):c.2085C>T (p.Ile695=) rs757157176
NM_000535.7(PMS2):c.2088C>T (p.Phe696=)
NM_000535.7(PMS2):c.2091A>G (p.Ile697Met) rs1554295855
NM_000535.7(PMS2):c.2092G>A (p.Val698Met) rs751551006
NM_000535.7(PMS2):c.2096A>G (p.Asp699Gly) rs878854043
NM_000535.7(PMS2):c.209A>G (p.Asp70Gly) rs1554305000
NM_000535.7(PMS2):c.20C>G (p.Ser7Trp) rs587780048
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu) rs587780048
NM_000535.7(PMS2):c.2100G>A (p.Gln700=) rs1554295833
NM_000535.7(PMS2):c.2109G>C (p.Thr703=) rs775355718
NM_000535.7(PMS2):c.210C>G (p.Asp70Glu) rs1554304997
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser) rs587780049
NM_000535.7(PMS2):c.2144A>C (p.His715Pro) rs773913260
NM_000535.7(PMS2):c.2148C>G (p.Thr716=) rs748404138
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg) rs587782559
NM_000535.7(PMS2):c.2160G>A (p.Gly720=) rs546441038
NM_000535.7(PMS2):c.2166G>A (p.Arg722=) rs863224367
NM_000535.7(PMS2):c.2167C>A (p.Leu723Ile)
NM_000535.7(PMS2):c.2168T>C (p.Leu723Pro) rs1246922900
NM_000535.7(PMS2):c.216A>G (p.Gly72=) rs568370805
NM_000535.7(PMS2):c.2172A>G (p.Ile724Met) rs1562614497
NM_000535.7(PMS2):c.2174+3G>C rs1400193171
NM_000535.7(PMS2):c.2175-11G>T rs538914402
NM_000535.7(PMS2):c.2175-1G>T
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs) rs63750695
NM_000535.7(PMS2):c.21G>C (p.Ser7=) rs587780726
NM_000535.7(PMS2):c.2205T>G (p.Asn735Lys)
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe) rs758225108
NM_000535.7(PMS2):c.2236T>C (p.Phe746Leu)
NM_000535.7(PMS2):c.223del (p.Gly74_Val75insTer) rs1554304974
NM_000535.7(PMS2):c.2253_2254inv (p.Asp752Asn)
NM_000535.7(PMS2):c.2260G>A (p.Val754Ile) rs876658822
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn) rs762206330
NM_000535.7(PMS2):c.226GAA[2] (p.Glu78del) rs386833411
NM_000535.7(PMS2):c.2275+1G>C rs1554294393
NM_000535.7(PMS2):c.2282T>C (p.Val761Ala)
NM_000535.7(PMS2):c.2290A>C (p.Arg764=) rs1583281538
NM_000535.7(PMS2):c.229G>C (p.Glu77Gln) rs751235177
NM_000535.7(PMS2):c.23+10G>A rs192027828
NM_000535.7(PMS2):c.23+19C>T rs756178012
NM_000535.7(PMS2):c.23+22C>A rs1281963213
NM_000535.7(PMS2):c.23+25G>T
NM_000535.7(PMS2):c.23+29C>T rs372733983
NM_000535.7(PMS2):c.23+3G>C rs1408475000
NM_000535.7(PMS2):c.2303T>G (p.Ile768Ser)
NM_000535.7(PMS2):c.2307C>T (p.Ser769=) rs1583281386
NM_000535.7(PMS2):c.2330C>G (p.Thr777Ser) rs777728316
NM_000535.7(PMS2):c.2338C>T (p.Pro780Ser) rs1064796041
NM_000535.7(PMS2):c.2366T>G (p.Met789Arg)
NM_000535.7(PMS2):c.2367G>A (p.Met789Ile) rs766565506
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.2386G>T (p.Val796Phe)
NM_000535.7(PMS2):c.23G>A (p.Ser8Asn) rs1352544158
NM_000535.7(PMS2):c.23G>C (p.Ser8Thr) rs1352544158
NM_000535.7(PMS2):c.24-11G>C
NM_000535.7(PMS2):c.24-1G>A rs1785723689
NM_000535.7(PMS2):c.24-4C>G rs2345056
NM_000535.7(PMS2):c.2409C>A (p.Val803=) rs2128672300
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.2416A>G (p.Met806Val) rs1554293792
NM_000535.7(PMS2):c.2419T>C (p.Phe807Leu)
NM_000535.7(PMS2):c.241G>C (p.Glu81Gln) rs730881919
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter) rs730881919
NM_000535.7(PMS2):c.2421del (p.Phe807fs)
NM_000535.7(PMS2):c.2438G>A (p.Arg813Gln) rs587782665
NM_000535.7(PMS2):c.2446-10T>G
NM_000535.7(PMS2):c.2446-15G>T
NM_000535.7(PMS2):c.2446G>A (p.Val816Met)
NM_000535.7(PMS2):c.2446G>C (p.Val816Leu)
NM_000535.7(PMS2):c.244G>T (p.Gly82Cys) rs754191682
NM_000535.7(PMS2):c.2456G>A (p.Gly819Glu)
NM_000535.7(PMS2):c.2462C>G (p.Ala821Gly) rs2128658992
NM_000535.7(PMS2):c.2464_2466delinsGTC (p.Leu822Val)
NM_000535.7(PMS2):c.2478G>C (p.Glu826Asp) rs1562594255
NM_000535.7(PMS2):c.2480T>C (p.Met827Thr)
NM_000535.7(PMS2):c.2480T>G (p.Met827Arg)
NM_000535.7(PMS2):c.2492T>A (p.Ile831Asn)
NM_000535.7(PMS2):c.2496C>T (p.Thr832=) rs746653856
NM_000535.7(PMS2):c.24T>C (p.Ser8=) rs1554306620
NM_000535.7(PMS2):c.250+12T>C rs1057523757
NM_000535.7(PMS2):c.250+20T>C rs1357781639
NM_000535.7(PMS2):c.250+4A>G rs1554304934
NM_000535.7(PMS2):c.250+5G>A rs1458809226
NM_000535.7(PMS2):c.2500A>C (p.Met834Leu) rs1554292828
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.2503G>T (p.Gly835Trp)
NM_000535.7(PMS2):c.2504G>A (p.Gly835Glu) rs1454373685
NM_000535.7(PMS2):c.2505G>T (p.Gly835=) rs1583269666
NM_000535.7(PMS2):c.2509A>T (p.Met837Leu) rs1583269633
NM_000535.7(PMS2):c.251-18C>G rs766811365
NM_000535.7(PMS2):c.251-19_251-16del
NM_000535.7(PMS2):c.251-2A>C rs587779340
NM_000535.7(PMS2):c.251-7C>G rs1583409220
NM_000535.7(PMS2):c.2519C>T (p.Pro840Leu) rs1554292787
NM_000535.7(PMS2):c.2531C>G (p.Pro844Arg) rs587782787
NM_000535.7(PMS2):c.2533C>T (p.His845Tyr)
NM_000535.7(PMS2):c.2538A>G (p.Gly846=) rs863224368
NM_000535.7(PMS2):c.2542C>T (p.Pro848Ser)
NM_000535.7(PMS2):c.2559C>A (p.Ile853=)
NM_000535.7(PMS2):c.2559C>T (p.Ile853=) rs371673459
NM_000535.7(PMS2):c.2565C>T (p.Asn855=) rs864622494
NM_000535.7(PMS2):c.2586C>T (p.Asn862=) rs1554292691
NM_000535.7(PMS2):c.2587T>G (p.Ter863Gly) rs1060503124
NM_000535.7(PMS2):c.261_265del (p.His88fs)
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.272A>G (p.Lys91Arg) rs1583408934
NM_000535.7(PMS2):c.281A>T (p.Glu94Val) rs746811649
NM_000535.7(PMS2):c.286G>A (p.Ala96Thr) rs772740220
NM_000535.7(PMS2):c.291C>A (p.Asp97Glu) rs878854049
NM_000535.7(PMS2):c.296C>T (p.Thr99Ile) rs786202835
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.300G>A (p.Gln100=) rs1064794102
NM_000535.7(PMS2):c.300G>C (p.Gln100His) rs1064794102
NM_000535.7(PMS2):c.312T>C (p.Phe104=) rs778519215
NM_000535.7(PMS2):c.313G>T (p.Gly105Cys) rs1554304666
NM_000535.7(PMS2):c.314G>A (p.Gly105Asp) rs876659413
NM_000535.7(PMS2):c.31C>G (p.Pro11Ala) rs1554306608
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.321G>T (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.322G>T (p.Gly108Trp) rs750866397
NM_000535.7(PMS2):c.323G>C (p.Gly108Ala) rs1785369293
NM_000535.7(PMS2):c.323G>T (p.Gly108Val) rs1785369293
NM_000535.7(PMS2):c.325G>A (p.Glu109Lys) rs63749862
NM_000535.7(PMS2):c.325del (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.325dup (p.Glu109fs) rs587781716
NM_000535.7(PMS2):c.329C>T (p.Ala110Val)
NM_000535.7(PMS2):c.332T>A (p.Leu111Gln) rs1554304623
NM_000535.7(PMS2):c.336C>T (p.Ser112=) rs1583408255
NM_000535.7(PMS2):c.338C>T (p.Ser113Leu) rs1785365441
NM_000535.7(PMS2):c.33del (p.Ala12fs) rs1554306605
NM_000535.7(PMS2):c.343del (p.Cys115fs)
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.349C>T (p.Leu117=) rs1554304592
NM_000535.7(PMS2):c.350T>C (p.Leu117Pro) rs1785362083
NM_000535.7(PMS2):c.353+10T>C rs1554304568
NM_000535.7(PMS2):c.353+19C>G rs1189029006
NM_000535.7(PMS2):c.353+1G>A rs113517055
NM_000535.7(PMS2):c.353+20C>T rs1440302333
NM_000535.7(PMS2):c.353+2T>C rs111466480
NM_000535.7(PMS2):c.353+4A>C rs760538709
NM_000535.7(PMS2):c.353+6dup rs1562693353
NM_000535.7(PMS2):c.353+7C>T rs1057520512
NM_000535.7(PMS2):c.354-12A>G rs1554304135
NM_000535.7(PMS2):c.354-14G>T rs1785236527
NM_000535.7(PMS2):c.354-15G>T rs1250216615
NM_000535.7(PMS2):c.354-18_354-15dup rs1785237115
NM_000535.7(PMS2):c.354-3C>T rs587782632
NM_000535.7(PMS2):c.359T>C (p.Val120Ala) rs1060503139
NM_000535.7(PMS2):c.360C>T (p.Val120=) rs767313783
NM_000535.7(PMS2):c.370A>G (p.Thr124Ala) rs1554304105
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.382T>C (p.Ser128Pro) rs1562690462
NM_000535.7(PMS2):c.384G>T (p.Ser128=) rs371342884
NM_000535.7(PMS2):c.385G>A (p.Ala129Thr) rs1785227712
NM_000535.7(PMS2):c.387G>A (p.Ala129=) rs876658275
NM_000535.7(PMS2):c.38A>C (p.Lys13Thr) rs1785719173
NM_000535.7(PMS2):c.391G>A (p.Val131Ile)
NM_000535.7(PMS2):c.391G>T (p.Val131Phe) rs1583403963
NM_000535.7(PMS2):c.396A>G (p.Gly132=) rs786201073
NM_000535.7(PMS2):c.39G>A (p.Lys13=) rs2128846889
NM_000535.7(PMS2):c.3G>A (p.Met1Ile) rs1554309086
NM_000535.7(PMS2):c.401G>A (p.Arg134Gln) rs771300829
NM_000535.7(PMS2):c.406A>G (p.Met136Val)
NM_000535.7(PMS2):c.40G>T (p.Ala14Ser) rs876661039
NM_000535.7(PMS2):c.415C>T (p.His139Tyr) rs1554304032
NM_000535.7(PMS2):c.428T>C (p.Ile143Thr) rs1562690040
NM_000535.7(PMS2):c.430A>T (p.Ile144Phe) rs876659055
NM_000535.7(PMS2):c.43A>C (p.Ile15Leu)
NM_000535.7(PMS2):c.440C>A (p.Thr147Asn) rs1554304012
NM_000535.7(PMS2):c.441C>T (p.Thr147=) rs1583403457
NM_000535.7(PMS2):c.445T>A (p.Tyr149Asn) rs890029950
NM_000535.7(PMS2):c.445del (p.Tyr149fs) rs769742496
NM_000535.7(PMS2):c.447C>T (p.Tyr149=) rs1224505288
NM_000535.7(PMS2):c.448C>T (p.Pro150Ser) rs1060503120
NM_000535.7(PMS2):c.450C>A (p.Pro150=) rs1554303987
NM_000535.7(PMS2):c.451del (p.Arg151fs) rs1562689635
NM_000535.7(PMS2):c.466A>C (p.Thr156Pro) rs786204206
NM_000535.7(PMS2):c.467C>A (p.Thr156Lys) rs1554303953
NM_000535.7(PMS2):c.468A>T (p.Thr156=) rs1364918195
NM_000535.7(PMS2):c.469G>C (p.Val157Leu) rs1554303946
NM_000535.7(PMS2):c.472A>T (p.Ser158Cys) rs1554303942
NM_000535.7(PMS2):c.479A>C (p.Gln160Pro) rs1554303922
NM_000535.7(PMS2):c.480G>T (p.Gln160His) rs1426242773
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu) rs587780060
NM_000535.7(PMS2):c.493A>G (p.Thr165Ala) rs1554303902
NM_000535.7(PMS2):c.500C>G (p.Pro167Arg) rs1554303894
NM_000535.7(PMS2):c.505C>T (p.Arg169Cys) rs730881916
NM_000535.7(PMS2):c.507C>T (p.Arg169=) rs1785194379
NM_000535.7(PMS2):c.51del (p.Ile18fs) rs1785715961
NM_000535.7(PMS2):c.520C>G (p.Gln174Glu)
NM_000535.7(PMS2):c.524G>T (p.Arg175Met) rs1562688735
NM_000535.7(PMS2):c.525G>A (p.Arg175=) rs1554303870
NM_000535.7(PMS2):c.525G>C (p.Arg175Ser) rs1554303870
NM_000535.7(PMS2):c.525G>T (p.Arg175Ser) rs1554303870
NM_000535.7(PMS2):c.525_534del (p.Asn176fs) rs1785187053
NM_000535.7(PMS2):c.531T>G (p.Ile177Met) rs863224679
NM_000535.7(PMS2):c.533A>C (p.Lys178Thr) rs1785187351
NM_000535.7(PMS2):c.537+4C>G rs864622272
NM_000535.7(PMS2):c.537+5A>C
NM_000535.7(PMS2):c.537+5A>G rs1562688519
NM_000535.7(PMS2):c.538-12T>G rs1554302551
NM_000535.7(PMS2):c.538-12dup rs1455766004
NM_000535.7(PMS2):c.538-15G>C rs1554302558
NM_000535.7(PMS2):c.538-18T>G rs1554302567
NM_000535.7(PMS2):c.538-2A>C rs758304323
NM_000535.7(PMS2):c.538-6A>G rs1784835616
NM_000535.7(PMS2):c.538-8T>C rs922948916
NM_000535.7(PMS2):c.538G>A (p.Glu180Lys) rs876660198
NM_000535.7(PMS2):c.540G>A (p.Glu180=) rs1784832714
NM_000535.7(PMS2):c.541T>C (p.Tyr181His) rs863224680
NM_000535.7(PMS2):c.542A>G (p.Tyr181Cys) rs863224681
NM_000535.7(PMS2):c.544G>A (p.Ala182Thr) rs587779341
NM_000535.7(PMS2):c.545C>A (p.Ala182Asp) rs1562679272
NM_000535.7(PMS2):c.549A>G (p.Lys183=) rs1784828441
NM_000535.7(PMS2):c.54T>C (p.Ile18=) rs878854054
NM_000535.7(PMS2):c.552G>A (p.Met184Ile) rs764853641
NM_000535.7(PMS2):c.552G>T (p.Met184Ile) rs764853641
NM_000535.7(PMS2):c.554T>G (p.Val185Gly)
NM_000535.7(PMS2):c.555C>T (p.Val185=) rs759078497
NM_000535.7(PMS2):c.558G>C (p.Gln186His) rs769411134
NM_000535.7(PMS2):c.565C>A (p.His189Asn) rs1583387579
NM_000535.7(PMS2):c.566A>C (p.His189Pro) rs876660330
NM_000535.7(PMS2):c.568G>A (p.Ala190Thr) rs1784822104
NM_000535.7(PMS2):c.570A>G (p.Ala190=) rs1784821785
NM_000535.7(PMS2):c.576T>C (p.Cys192=) rs1554302497
NM_000535.7(PMS2):c.580A>G (p.Ile194Val) rs1554302492
NM_000535.7(PMS2):c.58C>G (p.Arg20Gly) rs573374779
NM_000535.7(PMS2):c.606C>T (p.Cys202=) rs1562678720
NM_000535.7(PMS2):c.60G>C (p.Arg20=) rs1554306548
NM_000535.7(PMS2):c.613C>A (p.Gln205Lys) rs758250810
NM_000535.7(PMS2):c.613C>G (p.Gln205Glu) rs758250810
NM_000535.7(PMS2):c.613C>T (p.Gln205Ter) rs758250810
NM_000535.7(PMS2):c.619G>A (p.Gly207Arg) rs368847322
NM_000535.7(PMS2):c.622C>G (p.Gln208Glu) rs1784808623
NM_000535.7(PMS2):c.62A>G (p.Lys21Arg) rs1458424619
NM_000535.7(PMS2):c.631C>G (p.Arg211Gly) rs760228510
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter) rs760228510
NM_000535.7(PMS2):c.633A>T (p.Arg211=) rs1562678272
NM_000535.7(PMS2):c.634C>T (p.Gln212Ter) rs1562678257
NM_000535.7(PMS2):c.639T>C (p.Pro213=) rs1210294498
NM_000535.7(PMS2):c.63G>A (p.Lys21=) rs772643900
NM_000535.7(PMS2):c.641T>G (p.Val214Gly) rs864622706
NM_000535.7(PMS2):c.643G>A (p.Val215Ile) rs1064794017
NM_000535.7(PMS2):c.648C>T (p.Cys216=) rs762387250
NM_000535.7(PMS2):c.652G>A (p.Gly218Ser) rs878854055
NM_000535.7(PMS2):c.652G>C (p.Gly218Arg) rs878854055
NM_000535.7(PMS2):c.656G>A (p.Gly219Glu) rs749431015
NM_000535.7(PMS2):c.659G>T (p.Ser220Ile) rs769967916
NM_000535.7(PMS2):c.662C>G (p.Pro221Arg) rs878854056
NM_000535.7(PMS2):c.662C>T (p.Pro221Leu) rs878854056
NM_000535.7(PMS2):c.669A>G (p.Ile223Met)
NM_000535.7(PMS2):c.672G>C (p.Lys224Asn) rs748141595
NM_000535.7(PMS2):c.673G>A (p.Glu225Lys) rs1562677770
NM_000535.7(PMS2):c.681C>A (p.Ile227=) rs188813057
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.688G>A (p.Val230Met) rs1562677528
NM_000535.7(PMS2):c.690G>T (p.Val230=) rs749871098
NM_000535.7(PMS2):c.690_691del (p.Phe231fs) rs1064795447
NM_000535.7(PMS2):c.693T>C (p.Phe231=) rs2128799215
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter) rs587779343
NM_000535.7(PMS2):c.704A>C (p.Gln235Pro) rs2128798976
NM_000535.7(PMS2):c.705+1G>A rs267608147
NM_000535.7(PMS2):c.705+2T>C rs1784783734
NM_000535.7(PMS2):c.706-11T>C rs1185117521
NM_000535.7(PMS2):c.706-13T>G
NM_000535.7(PMS2):c.706-18T>A rs1562671759
NM_000535.7(PMS2):c.706-24_706-20delinsAA rs1784554126
NM_000535.7(PMS2):c.706-24_706-22del rs1163257444
NM_000535.7(PMS2):c.706-3del rs770480662
NM_000535.7(PMS2):c.706-3delinsTA rs1436961952
NM_000535.7(PMS2):c.706-4_706-3delinsA rs1554301576
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.706-4dup rs60794673
NM_000535.7(PMS2):c.706-5T>C rs1203452929
NM_000535.7(PMS2):c.706-5_706-4del rs60794673
NM_000535.7(PMS2):c.706-6_706-4del rs60794673
NM_000535.7(PMS2):c.706-7_706-6insG rs570998668
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.712A>G (p.Ser238Gly) rs1060503149
NM_000535.7(PMS2):c.712del (p.Ser238fs) rs1554301561
NM_000535.7(PMS2):c.71A>G (p.His24Arg) rs139233015
NM_000535.7(PMS2):c.726T>A (p.Phe242Leu) rs1346863182
NM_000535.7(PMS2):c.726T>C (p.Phe242=) rs1346863182
NM_000535.7(PMS2):c.727G>C (p.Val243Leu) rs867655834
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>G (p.Leu245Val) rs201375580
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.737C>A (p.Pro246His) rs1562670885
NM_000535.7(PMS2):c.739C>A (p.Pro247Thr) rs878854058
NM_000535.7(PMS2):c.739C>T (p.Pro247Ser) rs878854058
NM_000535.7(PMS2):c.73C>T (p.Gln25Ter) rs1554306528
NM_000535.7(PMS2):c.743G>C (p.Ser248Thr) rs1784535776
NM_000535.7(PMS2):c.744T>C (p.Ser248=) rs1554301489
NM_000535.7(PMS2):c.746_753del (p.Asp249fs) rs587782710
NM_000535.7(PMS2):c.751G>C (p.Val251Leu) rs142434011
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer) rs1064794905
NM_000535.7(PMS2):c.758A>C (p.Glu253Ala) rs876661002
NM_000535.7(PMS2):c.75G>A (p.Gln25=) rs1554306525
NM_000535.7(PMS2):c.75G>T (p.Gln25His) rs1554306525
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.766G>C (p.Gly256Arg) rs587782633
NM_000535.7(PMS2):c.770T>G (p.Leu257Trp) rs1554301463
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.775T>C (p.Cys259Arg) rs1554301455
NM_000535.7(PMS2):c.779_780delinsTG (p.Ser260Leu) rs730881920
NM_000535.7(PMS2):c.779_780inv (p.Ser260Trp)
NM_000535.7(PMS2):c.77T>C (p.Ile26Thr) rs1583419301
NM_000535.7(PMS2):c.780C>A (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.780C>T (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.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.78_107del (p.Cys27_Ser36del) rs1554306440
NM_000535.7(PMS2):c.797T>C (p.Leu266Pro) rs2128786412
NM_000535.7(PMS2):c.801T>A (p.Phe267Leu) rs1554301382
NM_000535.7(PMS2):c.802del (p.Tyr268fs) rs267608149
NM_000535.7(PMS2):c.803+11dup rs1554301378
NM_000535.7(PMS2):c.803A>G (p.Tyr268Cys) rs1347758423
NM_000535.7(PMS2):c.804-11A>G
NM_000535.7(PMS2):c.804-13T>C rs1562664935
NM_000535.7(PMS2):c.804-13T>G rs1562664935
NM_000535.7(PMS2):c.804-16T>C rs1264781818
NM_000535.7(PMS2):c.804-1G>A rs1562664845
NM_000535.7(PMS2):c.804-4A>C rs1475598645
NM_000535.7(PMS2):c.804-6G>A rs1784318449
NM_000535.7(PMS2):c.804-9G>A rs780427536
NM_000535.7(PMS2):c.811G>A (p.Gly271Ser) rs1583364895
NM_000535.7(PMS2):c.816C>G (p.Phe272Leu)
NM_000535.7(PMS2):c.817A>G (p.Ile273Val) rs587778621
NM_000535.7(PMS2):c.822A>C (p.Ser274=)
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.829A>T (p.Thr277Ser) rs1583364586
NM_000535.7(PMS2):c.829dup (p.Thr277fs)
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.831G>T (p.Thr277=) rs116481522
NM_000535.7(PMS2):c.832C>T (p.His278Tyr) rs1554300796
NM_000535.7(PMS2):c.833A>G (p.His278Arg) rs1562664434
NM_000535.7(PMS2):c.848G>A (p.Ser283Asn) rs1784307166
NM_000535.7(PMS2):c.849T>C (p.Ser283=) rs1277038817
NM_000535.7(PMS2):c.851C>T (p.Ser284Leu) rs587782898
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu) rs201921616
NM_000535.7(PMS2):c.860G>A (p.Arg287Lys) rs1060503122
NM_000535.7(PMS2):c.861A>T (p.Arg287Ser) rs1554300756
NM_000535.7(PMS2):c.861_864del (p.Arg287fs) rs267608154
NM_000535.7(PMS2):c.862C>T (p.Gln288Ter) rs1583363851
NM_000535.7(PMS2):c.862_863del (p.Gln288fs) rs63750246
NM_000535.7(PMS2):c.864G>T (p.Gln288His) rs990212889
NM_000535.7(PMS2):c.865T>C (p.Phe289Leu) rs771787834
NM_000535.7(PMS2):c.869T>A (p.Phe290Tyr) rs1031512870
NM_000535.7(PMS2):c.869T>C (p.Phe290Ser) rs1031512870
NM_000535.7(PMS2):c.881G>T (p.Arg294Leu) rs373239341
NM_000535.7(PMS2):c.885G>T (p.Arg295=) rs786201615
NM_000535.7(PMS2):c.889T>G (p.Cys297Gly) rs1562663507
NM_000535.7(PMS2):c.88C>G (p.Gln30Glu) rs141577476
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter) rs141577476
NM_000535.7(PMS2):c.890G>C (p.Cys297Ser) rs869312802
NM_000535.7(PMS2):c.896C>T (p.Pro299Leu) rs1402108044
NM_000535.7(PMS2):c.899C>A (p.Ala300Glu) rs1554300702
NM_000535.7(PMS2):c.8G>T (p.Arg3Leu) rs375507981
NM_000535.7(PMS2):c.903+11T>A rs766296823
NM_000535.7(PMS2):c.903+17T>A rs1784288209
NM_000535.7(PMS2):c.903+17dup rs1562663194
NM_000535.7(PMS2):c.903+1G>T rs1554300689
NM_000535.7(PMS2):c.903+20_903+21del rs746861817
NM_000535.7(PMS2):c.903+4T>C rs753803330
NM_000535.7(PMS2):c.903G>T (p.Lys301Asn) rs267608153
NM_000535.7(PMS2):c.904-13G>T rs1783816031
NM_000535.7(PMS2):c.904-14T>A rs1064795266
NM_000535.7(PMS2):c.904-14T>C rs1064795266
NM_000535.7(PMS2):c.904-14T>G rs1064795266
NM_000535.7(PMS2):c.904-17_904-15del rs749482906
NM_000535.7(PMS2):c.904-2A>G rs587781339
NM_000535.7(PMS2):c.909C>T (p.Cys303=) rs1199497563
NM_000535.7(PMS2):c.915C>A (p.Leu305=) rs767392742
NM_000535.7(PMS2):c.915C>G (p.Leu305=) rs767392742
NM_000535.7(PMS2):c.91G>T (p.Val31Leu) rs786203763
NM_000535.7(PMS2):c.922G>A (p.Glu308Lys) rs587781358
NM_000535.7(PMS2):c.933C>T (p.His311=) rs1057521069
NM_000535.7(PMS2):c.935T>C (p.Met312Thr) rs530021751
NM_000535.7(PMS2):c.939T>A (p.Tyr313Ter) rs1562651617
NM_000535.7(PMS2):c.93G>T (p.Val31=) rs2128845564
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.951G>A (p.Gln317=) rs1783798592
NM_000535.7(PMS2):c.955C>T (p.Pro319Ser) rs1248142939
NM_000535.7(PMS2):c.967C>G (p.Leu323Val) rs1554299391
NM_000535.7(PMS2):c.96A>G (p.Val32=) rs746089731
NM_000535.7(PMS2):c.970A>T (p.Asn324Tyr) rs1562651233
NM_000535.7(PMS2):c.973A>G (p.Ile325Val)
NM_000535.7(PMS2):c.979G>A (p.Val327Ile) rs1257825900
NM_000535.7(PMS2):c.97C>G (p.Leu33Val) rs878854061
NM_000535.7(PMS2):c.97C>T (p.Leu33=) rs878854061
NM_000535.7(PMS2):c.984T>C (p.Asp328=) rs2128755014
NM_000535.7(PMS2):c.988+1G>T rs757110564
NM_000535.7(PMS2):c.988G>C (p.Glu330Gln) rs1370798039
NM_000535.7(PMS2):c.989-1G>T rs587780064
NM_000535.7(PMS2):c.989-21_989-20del rs745927005
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_000535.7(PMS2):c.989-3T>C rs1156325177
NM_000535.7(PMS2):c.989-6C>T rs1554298834
NM_000535.7(PMS2):c.989-8dup rs1333503820
NM_000535.7(PMS2):c.989-9T>A rs2128749159
NM_000535.7(PMS2):c.992G>A (p.Cys331Tyr) rs1184563006
NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)
NM_000535.7(PMS2):c.99G>A (p.Leu33=) rs1562701736

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