ClinVar Miner

List of variants in gene PMS2 studied for colorectal neoplasm

Included ClinVar conditions (84):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3799
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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.538-223A>G rs2345060 0.21434
NM_000535.5(PMS2):c.-154C>G rs3735296 0.16495
NM_000535.7(PMS2):c.804-243G>A rs2286680 0.16082
NM_000535.7(PMS2):c.903+144G>T rs12702462 0.15665
NM_000535.7(PMS2):c.537+187A>G rs6953340 0.15642
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006 0.13518
NM_000535.7(PMS2):c.2007-4G>A rs1805326 0.12350
NM_000535.7(PMS2):c.2007-7C>T rs55954143 0.12135
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000 0.11447
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_000535.7(PMS2):c.164-108G>C rs12538294 0.06053
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_000535.5(PMS2):c.-195T>C rs2302336 0.04915
NM_000535.7(PMS2):c.903+100T>G rs12534423 0.04879
NM_000535.7(PMS2):c.903+84C>T rs3815383 0.04877
NM_000535.7(PMS2):c.2006+6G>A rs111905775 0.04390
NM_000535.7(PMS2):c.288C>T (p.Ala96=) rs12532895 0.03944
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000535.7(PMS2):c.251-72A>G rs117831773 0.02449
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_000535.7(PMS2):c.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.2182A>G (p.Thr728Ala) rs141893001 0.00203
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter) rs587780057 0.00174
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766 0.00142
NM_000535.7(PMS2):c.2340C>T (p.Pro780=) rs142230276 0.00117
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687 0.00088
NM_000535.7(PMS2):c.251-20T>G rs149343081 0.00086
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_000535.7(PMS2):c.354-34C>G rs200029834 0.00049
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442 0.00048
NM_000535.7(PMS2):c.1199A>C (p.Gln400Pro) rs148069478 0.00045
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813 0.00041
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814 0.00039
NM_000535.7(PMS2):c.1268C>G (p.Ala423Gly) rs756883400 0.00038
NM_000535.7(PMS2):c.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.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.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.2276-10A>G rs573900018 0.00010
NM_000535.7(PMS2):c.2445+14G>T rs913201632 0.00010
NM_000535.7(PMS2):c.340C>T (p.Leu114Phe) rs757441871 0.00010
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr) rs114090343 0.00010
NM_000535.7(PMS2):c.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
NR_136154.1(PMS2):n.13T>C rs746329908 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.2175-13T>C rs748722013 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.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.1197G>A (p.Lys399=) rs757730609 0.00004
NM_000535.7(PMS2):c.11C>G (p.Ala4Gly) rs745361721 0.00004
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg) rs536111818 0.00004
NM_000535.7(PMS2):c.1239A>G (p.Lys413=) rs1244752544 0.00004
NM_000535.7(PMS2):c.1288A>G (p.Thr430Ala) rs587781382 0.00004
NM_000535.7(PMS2):c.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.2287G>A (p.Glu763Lys) rs587780051 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.2496C>G (p.Thr832=) rs746653856 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.706-7T>A rs1459714978 0.00004
NM_000535.7(PMS2):c.765C>T (p.Tyr255=) rs573125799 0.00004
NM_000535.7(PMS2):c.831G>A (p.Thr277=) rs116481522 0.00004
NM_000535.7(PMS2):c.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.2167C>T (p.Leu723Phe) rs1456057054 0.00003
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly) rs587780052 0.00003
NM_000535.7(PMS2):c.23+19C>G rs756178012 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.2521del (p.Trp841fs) rs886039646 0.00003
NM_000535.7(PMS2):c.2535T>C (p.His845=) rs876660464 0.00003
NM_000535.7(PMS2):c.258A>G (p.Lys86=) rs1057520475 0.00003
NM_000535.7(PMS2):c.355G>A (p.Asp119Asn) rs587781913 0.00003
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu) rs761748894 0.00003
NM_000535.7(PMS2):c.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.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.1111A>G (p.Asn371Asp) rs1217473969 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.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.2217G>A (p.Leu739=) rs752718686 0.00002
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671 0.00002
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410 0.00002
NM_000535.7(PMS2):c.23+17G>A rs780132980 0.00002
NM_000535.7(PMS2):c.23+7G>C rs878854047 0.00002
NM_000535.7(PMS2):c.2349C>T (p.Val783=) rs751036491 0.00002
NM_000535.7(PMS2):c.24-3T>C rs749485884 0.00002
NM_000535.7(PMS2):c.2444C>T (p.Ser815Leu) rs587779338 0.00002
NM_000535.7(PMS2):c.2447T>A (p.Val816Glu) rs1060503140 0.00002
NM_000535.7(PMS2):c.2453T>C (p.Ile818Thr) rs786202876 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.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.592A>G (p.Ile198Val) rs774629715 0.00002
NM_000535.7(PMS2):c.598G>A (p.Val200Ile) rs587778620 0.00002
NM_000535.7(PMS2):c.648C>G (p.Cys216Trp) rs762387250 0.00002
NM_000535.7(PMS2):c.702G>A (p.Lys234=) rs876660388 0.00002
NM_000535.7(PMS2):c.705+3A>G rs764334813 0.00002
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633 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.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.1014A>G (p.Pro338=) rs749443737 0.00001
NM_000535.7(PMS2):c.1027A>G (p.Ile343Val) rs1181117995 0.00001
NM_000535.7(PMS2):c.1047G>A (p.Lys349=) rs1422380612 0.00001
NM_000535.7(PMS2):c.1057G>A (p.Ala353Thr) rs587782826 0.00001
NM_000535.7(PMS2):c.1058C>T (p.Ala353Val) rs543676323 0.00001
NM_000535.7(PMS2):c.1060G>T (p.Val354Phe) rs750984324 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.1084A>G (p.Met362Val) rs876659797 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.1136A>T (p.Asp379Val) rs536031711 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.1144+20C>T rs750883624 0.00001
NM_000535.7(PMS2):c.1144+3A>G rs1430015665 0.00001
NM_000535.7(PMS2):c.1144+7A>G rs1783506199 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.1177G>A (p.Glu393Lys) rs1243063129 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.1223C>T (p.Thr408Ile) rs1347299632 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.1250T>C (p.Ile417Thr) rs1451465095 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.1258C>T (p.Leu420=) rs1783155735 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.1267G>T (p.Ala423Ser) rs587778619 0.00001
NM_000535.7(PMS2):c.1281T>A (p.Arg427=) rs570853668 0.00001
NM_000535.7(PMS2):c.1297A>G (p.Lys433Glu) rs863224496 0.00001
NM_000535.7(PMS2):c.1299G>A (p.Lys433=) rs760727820 0.00001
NM_000535.7(PMS2):c.1300C>T (p.Pro434Ser) rs1583321885 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.1345C>G (p.Gln449Glu) rs876661256 0.00001
NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys) rs876660834 0.00001
NM_000535.7(PMS2):c.1356T>C (p.Gly452=) rs786202946 0.00001
NM_000535.7(PMS2):c.1360C>T (p.Leu454=) rs1338448094 0.00001
NM_000535.7(PMS2):c.1361T>C (p.Leu454Pro) rs772659239 0.00001
NM_000535.7(PMS2):c.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.1411C>T (p.Gln471Ter) rs63751228 0.00001
NM_000535.7(PMS2):c.1416A>G (p.Lys472=) rs1273167619 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.1444A>G (p.Ser482Gly) rs786203510 0.00001
NM_000535.7(PMS2):c.1450C>A (p.Pro484Thr) rs752122569 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.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.1494C>T (p.Ser498=) rs770181766 0.00001
NM_000535.7(PMS2):c.14A>T (p.Glu5Val) rs876659080 0.00001
NM_000535.7(PMS2):c.1506T>C (p.Asp502=) rs63750354 0.00001
NM_000535.7(PMS2):c.1508C>A (p.Ser503Tyr) rs777920014 0.00001
NM_000535.7(PMS2):c.1512G>A (p.Glu504=) rs1783067092 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.1542C>T (p.His514=) rs763694602 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.1591G>T (p.Glu531Ter) rs878854037 0.00001
NM_000535.7(PMS2):c.1602C>G (p.Asp534Glu) rs1554297497 0.00001
NM_000535.7(PMS2):c.1617G>T (p.Ala539=) rs776931237 0.00001
NM_000535.7(PMS2):c.1624A>C (p.Thr542Pro) rs1425816147 0.00001
NM_000535.7(PMS2):c.163+3A>G rs763369532 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.164-13T>G rs751134416 0.00001
NM_000535.7(PMS2):c.164-1G>A rs763308607 0.00001
NM_000535.7(PMS2):c.1642G>A (p.Asp548Asn) rs374591423 0.00001
NM_000535.7(PMS2):c.1664A>T (p.Gln555Leu) rs745836140 0.00001
NM_000535.7(PMS2):c.1674C>T (p.Thr558=) rs876658134 0.00001
NM_000535.7(PMS2):c.1678T>A (p.Cys560Ser) rs370455197 0.00001
NM_000535.7(PMS2):c.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.1702C>G (p.Pro568Ala) rs786204115 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.172C>T (p.Leu58Phe) rs1465172427 0.00001
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947 0.00001
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304 0.00001
NM_000535.7(PMS2):c.1761T>G (p.Ser587Arg) rs1311237867 0.00001
NM_000535.7(PMS2):c.1765G>C (p.Asp589His) rs749727182 0.00001
NM_000535.7(PMS2):c.1777A>C (p.Lys593Gln) rs1212790997 0.00001
NM_000535.7(PMS2):c.1797C>T (p.Asp599=) rs1261280629 0.00001
NM_000535.7(PMS2):c.1798A>G (p.Met600Val) rs1304634005 0.00001
NM_000535.7(PMS2):c.1810C>A (p.Gln604Lys) rs1064793426 0.00001
NM_000535.7(PMS2):c.1819G>A (p.Val607Ile) rs786204109 0.00001
NM_000535.7(PMS2):c.182A>G (p.Tyr61Cys) rs773109986 0.00001
NM_000535.7(PMS2):c.1835A>G (p.Asn612Ser) rs1583314932 0.00001
NM_000535.7(PMS2):c.1850C>T (p.Pro617Leu) rs747785888 0.00001
NM_000535.7(PMS2):c.1855G>T (p.Asp619Tyr) rs1179605136 0.00001
NM_000535.7(PMS2):c.1864A>T (p.Met622Leu) rs370853512 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.190G>A (p.Asp64Asn) rs1583410797 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.192T>G (p.Asp64Glu) rs1258284726 0.00001
NM_000535.7(PMS2):c.1931A>G (p.Asn644Ser) rs267608166 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.1967A>G (p.Glu656Gly) rs1481127167 0.00001
NM_000535.7(PMS2):c.1985A>G (p.Asp662Gly) rs1320079782 0.00001
NM_000535.7(PMS2):c.1995A>G (p.Arg665=) rs781780543 0.00001
NM_000535.7(PMS2):c.2000A>C (p.Glu667Ala) rs1404270894 0.00001
NM_000535.7(PMS2):c.2007-10C>T rs878854042 0.00001
NM_000535.7(PMS2):c.2007-2A>C rs587782336 0.00001
NM_000535.7(PMS2):c.2007-9T>C rs1194759833 0.00001
NM_000535.7(PMS2):c.200A>G (p.Glu67Gly) rs1785422471 0.00001
NM_000535.7(PMS2):c.2010A>G (p.Lys670=) rs745305784 0.00001
NM_000535.7(PMS2):c.2013G>A (p.Thr671=) rs771513870 0.00001
NM_000535.7(PMS2):c.2033T>C (p.Ile678Thr) rs587782553 0.00001
NM_000535.7(PMS2):c.2035A>G (p.Ile679Val) rs587780047 0.00001
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr) rs778251286 0.00001
NM_000535.7(PMS2):c.2050C>T (p.Leu684=) rs1410726810 0.00001
NM_000535.7(PMS2):c.2055A>G (p.Gly685=) rs786202005 0.00001
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val) rs1060503144 0.00001
NM_000535.7(PMS2):c.2063T>C (p.Ile688Thr) rs755241829 0.00001
NM_000535.7(PMS2):c.2081A>T (p.Asp694Val) rs1554295876 0.00001
NM_000535.7(PMS2):c.2098C>A (p.Gln700Lys) rs1782451817 0.00001
NM_000535.7(PMS2):c.2106C>T (p.Ala702=) rs786202273 0.00001
NM_000535.7(PMS2):c.2109G>A (p.Thr703=) rs775355718 0.00001
NM_000535.7(PMS2):c.2112C>T (p.Asp704=) rs764735061 0.00001
NM_000535.7(PMS2):c.2128G>A (p.Glu710Lys) rs1060503131 0.00001
NM_000535.7(PMS2):c.2148C>T (p.Thr716=) rs748404138 0.00001
NM_000535.7(PMS2):c.2152C>T (p.Leu718Phe) rs139765160 0.00001
NM_000535.7(PMS2):c.2154C>T (p.Leu718=) rs749554813 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.2175-9G>A rs1057522324 0.00001
NM_000535.7(PMS2):c.2175A>G (p.Ala725=) rs769116749 0.00001
NM_000535.7(PMS2):c.2177C>T (p.Pro726Leu) rs876658439 0.00001
NM_000535.7(PMS2):c.2179C>G (p.Gln727Glu) rs786202202 0.00001
NM_000535.7(PMS2):c.2199T>C (p.Ala733=) rs876658952 0.00001
NM_000535.7(PMS2):c.2207A>C (p.Glu736Ala) rs1060503115 0.00001
NM_000535.7(PMS2):c.2229G>A (p.Leu743=) rs754876436 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.2250C>A (p.Gly750=) rs1199360335 0.00001
NM_000535.7(PMS2):c.2265C>T (p.Ile755=) rs145646046 0.00001
NM_000535.7(PMS2):c.2266G>T (p.Asp756Tyr) rs762206330 0.00001
NM_000535.7(PMS2):c.2271A>G (p.Glu757=) rs1476682377 0.00001
NM_000535.7(PMS2):c.2275+5G>A rs1583285249 0.00001
NM_000535.7(PMS2):c.2276-14T>C rs1178201870 0.00001
NM_000535.7(PMS2):c.2281G>C (p.Val761Leu) rs201914670 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+1G>T rs587782074 0.00001
NM_000535.7(PMS2):c.23+6C>A rs779104357 0.00001
NM_000535.7(PMS2):c.23+8G>A rs369891441 0.00001
NM_000535.7(PMS2):c.23+9G>A rs1046717239 0.00001
NM_000535.7(PMS2):c.2316T>C (p.Thr772=) rs776971541 0.00001
NM_000535.7(PMS2):c.2332T>A (p.Phe778Ile) rs876660374 0.00001
NM_000535.7(PMS2):c.2335G>A (p.Gly779Arg) rs587780053 0.00001
NM_000535.7(PMS2):c.2345A>G (p.Asp782Gly) rs745500014 0.00001
NM_000535.7(PMS2):c.2346C>T (p.Asp782=) rs139031103 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.2373C>T (p.Ser791=) rs864622765 0.00001
NM_000535.7(PMS2):c.2374G>A (p.Asp792Asn) rs587781265 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.2389A>G (p.Met797Val) rs1433888137 0.00001
NM_000535.7(PMS2):c.2396G>A (p.Arg799Gln) rs587780055 0.00001
NM_000535.7(PMS2):c.24-6C>G rs1465940485 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.2431G>A (p.Ala811Thr) rs1169337656 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.2445+11A>C rs1397297067 0.00001
NM_000535.7(PMS2):c.2445+3A>T rs765667554 0.00001
NM_000535.7(PMS2):c.2446-18A>G rs1057522313 0.00001
NM_000535.7(PMS2):c.244G>A (p.Gly82Ser) rs754191682 0.00001
NM_000535.7(PMS2):c.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.2494A>G (p.Thr832Ala) rs587780056 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.2526C>G (p.Asn842Lys) rs755478893 0.00001
NM_000535.7(PMS2):c.2567T>G (p.Leu856Arg) rs587782342 0.00001
NM_000535.7(PMS2):c.2574C>T (p.Val858=) rs1174998538 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.277C>G (p.Gln93Glu) rs1299810000 0.00001
NM_000535.7(PMS2):c.27A>C (p.Thr9=) rs1060504842 0.00001
NM_000535.7(PMS2):c.282G>A (p.Glu94=) rs576942328 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.328G>A (p.Ala110Thr) rs767775907 0.00001
NM_000535.7(PMS2):c.330T>C (p.Ala110=) rs1785367130 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+3G>A rs766373982 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.354-13T>C rs1785236314 0.00001
NM_000535.7(PMS2):c.354-20T>C rs778014939 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.418A>G (p.Asn140Asp) rs35911407 0.00001
NM_000535.7(PMS2):c.434A>T (p.Gln145Leu) rs1064795040 0.00001
NM_000535.7(PMS2):c.438A>T (p.Lys146Asn) rs1396558771 0.00001
NM_000535.7(PMS2):c.448C>G (p.Pro150Ala) rs1060503120 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.45C>G (p.Ile15Met) rs876660499 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.528T>C (p.Asn176=) rs1057523374 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.538-20T>C rs200792426 0.00001
NM_000535.7(PMS2):c.538-2A>G rs758304323 0.00001
NM_000535.7(PMS2):c.541T>A (p.Tyr181Asn) rs863224680 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.575G>A (p.Cys192Tyr) rs772404945 0.00001
NM_000535.7(PMS2):c.577A>G (p.Ile193Val) rs1784819145 0.00001
NM_000535.7(PMS2):c.593dup (p.Arg199fs) rs267608148 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.610A>G (p.Asn204Asp) rs746910555 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.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.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+10G>A rs770203880 0.00001
NM_000535.7(PMS2):c.705+13G>A rs776790763 0.00001
NM_000535.7(PMS2):c.705+8T>C rs775838917 0.00001
NM_000535.7(PMS2):c.706-2A>G rs745487791 0.00001
NM_000535.7(PMS2):c.706-2dup rs1490493105 0.00001
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter) rs1458321358 0.00001
NM_000535.7(PMS2):c.711A>G (p.Gln237=) rs368608818 0.00001
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn) rs1060503111 0.00001
NM_000535.7(PMS2):c.720T>A (p.Ile240=) rs777148436 0.00001
NM_000535.7(PMS2):c.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.778T>A (p.Ser260Thr) rs1259974071 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.794A>G (p.Asn265Ser) rs754164213 0.00001
NM_000535.7(PMS2):c.795T>C (p.Asn265=) rs766667186 0.00001
NM_000535.7(PMS2):c.799T>C (p.Phe267Leu) rs876661158 0.00001
NM_000535.7(PMS2):c.803+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.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.826T>C (p.Cys276Arg) rs1407229027 0.00001
NM_000535.7(PMS2):c.82T>C (p.Ser28Pro) rs587781908 0.00001
NM_000535.7(PMS2):c.844A>G (p.Arg282Gly) rs1554300793 0.00001
NM_000535.7(PMS2):c.846G>A (p.Arg282=) rs753748043 0.00001
NM_000535.7(PMS2):c.847A>C (p.Ser283Arg) rs876660871 0.00001
NM_000535.7(PMS2):c.878A>G (p.Asn293Ser) rs1274671450 0.00001
NM_000535.7(PMS2):c.879C>T (p.Asn293=) rs1208421007 0.00001
NM_000535.7(PMS2):c.87G>A (p.Gly29=) rs876659642 0.00001
NM_000535.7(PMS2):c.880C>T (p.Arg294Trp) rs563433235 0.00001
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln) rs373239341 0.00001
NM_000535.7(PMS2):c.884G>A (p.Arg295Gln) rs369763423 0.00001
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg) rs56203955 0.00001
NM_000535.7(PMS2):c.8G>A (p.Arg3Gln) rs375507981 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.904-5T>G rs1159396042 0.00001
NM_000535.7(PMS2):c.904G>T (p.Val302Phe) rs755960629 0.00001
NM_000535.7(PMS2):c.908G>A (p.Cys303Tyr) rs1562652063 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.959T>A (p.Phe320Tyr) rs1060503121 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.989-14C>A rs1554298839 0.00001
NM_000535.7(PMS2):c.989-5C>T rs1401221727 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
GRCh37/hg19 7p22.1(chr7:6026390-6027251)x3
NC_000007.13:g.(6013174_6017218)_(6037055_6038738)del
NC_000007.13:g.(6018328_6022454)_(6027252_6029430)dup
NC_000007.13:g.(6029587_6031603)_(6042268_6043320)del
NC_000007.13:g.(6031689_6035164)_(6037055_6038738)del
NC_000007.13:g.(6031689_6035164)_(6038907_6042083)del
NC_000007.13:g.(?_6010555)_(6027252_6029430)del
NC_000007.13:g.(?_6010555)_(6037055_6038738)del
NC_000007.13:g.(?_6013020)_(6022632_?)dup
NC_000007.13:g.(?_6013020)_6031698del
NC_000007.13:g.(?_6013024)_(6022628_?)dup
NC_000007.13:g.(?_6013030)_(6013183_?)dup
NC_000007.13:g.(?_6013030)_(6017398_?)del
NC_000007.13:g.(?_6013030)_(6017398_?)dup
NC_000007.13:g.(?_6013030)_(6017408_?)del
NC_000007.13:g.(?_6013030)_(6018337_?)del
NC_000007.13:g.(?_6013030)_(6022642_?)dup
NC_000007.13:g.(?_6017209)_(6017398_?)dup
NC_000007.13:g.(?_6018217)_(6018337_?)dup
NC_000007.13:g.(?_6018217)_(6022632_?)del
NC_000007.13:g.(?_6018217)_(6022632_?)dup
NC_000007.13:g.(?_6022445)_(6022632_?)del
NC_000007.13:g.(?_6022445)_(6022632_?)dup
NC_000007.13:g.(?_6022449)_(6022628_?)del
NC_000007.13:g.(?_6026369)_(6026833_?)del
NC_000007.13:g.(?_6026370)_(6037074_?)del
NC_000007.13:g.(?_6026380)_(6027261_?)dup
NC_000007.13:g.(?_6026380)_(6037064_?)dup
NC_000007.13:g.(?_6026380)_(6038916_?)del
NC_000007.13:g.(?_6026380)_(6038916_?)dup
NC_000007.13:g.(?_6026380)_(6042277_?)del
NC_000007.13:g.(?_6026380)_(6042277_?)dup
NC_000007.13:g.(?_6026380)_(6043699_?)del
NC_000007.13:g.(?_6026384)_(6027257_?)del
NC_000007.13:g.(?_6026384)_(6027257_?)dup
NC_000007.13:g.(?_6026815)_(6032194_?)del
NC_000007.13:g.(?_6031594)_(6037064_?)del
NC_000007.13:g.(?_6031594)_(6043699_?)dup
NC_000007.13:g.(?_6035155)_(6043699_?)del
NC_000007.13:g.(?_6036951)_(6038912_?)dup
NC_000007.13:g.(?_6042074)_(6042321_?)del
NC_000007.13:g.(?_6045513)_(6045672_?)dup
NC_000007.13:g.6035323_6035324insSVA
NC_000007.14:g.(5987621_5989799)_(5989956_5991972)del
NC_000007.14:g.(5987621_5989799)_(5992058_5995533)del
NC_000007.14:g.(?_5970924)_(6009107_?)del
NC_000007.14:g.(?_5973389)_(5973552_?)del
NC_000007.14:g.(?_5973389)_(5978706_?)dup
NC_000007.14:g.(?_5973389)_(5983001_?)del
NC_000007.14:g.(?_5973393)_(5973548_?)del
NC_000007.14:g.(?_5973393)_(5982997_?)del
NC_000007.14:g.(?_5973399)_(5973552_?)del
NC_000007.14:g.(?_5973399)_(5983001_?)del
NC_000007.14:g.(?_5977578)_(5977767_?)del
NC_000007.14:g.(?_5977578)_(5978706_?)del
NC_000007.14:g.(?_5977578)_(5983001_?)del
NC_000007.14:g.(?_5977578)_(5983001_?)dup
NC_000007.14:g.(?_5977582)_(5977763_?)del
NC_000007.14:g.(?_5977582)_(5978702_?)del
NC_000007.14:g.(?_5977582)_(5982997_?)del
NC_000007.14:g.(?_5978586)_(5978706_?)del
NC_000007.14:g.(?_5986749)_(5987630_?)del
NC_000007.14:g.(?_5986749)_(5989965_?)del
NC_000007.14:g.(?_5986749)_(5992067_?)del
NC_000007.14:g.(?_5986749)_(5995643_?)del
NC_000007.14:g.(?_5986749)_(5997433_?)del
NC_000007.14:g.(?_5986749)_(6009116_?)del
NC_000007.14:g.(?_5986753)_(5992063_?)del
NC_000007.14:g.(?_5986753)_(5997429_?)del
NC_000007.14:g.(?_5986753)_(6002642_?)del
NC_000007.14:g.(?_5989790)_(5989965_?)del
NC_000007.14:g.(?_5989790)_(5992067_?)del
NC_000007.14:g.(?_5989790)_(5995643_?)del
NC_000007.14:g.(?_5989790)_(6009029_?)del
NC_000007.14:g.(?_5991963)_(5999285_?)del
NC_000007.14:g.(?_5991963)_(6002646_?)del
NC_000007.14:g.(?_5991963)_(6006041_?)del
NC_000007.14:g.(?_5991967)_(5997429_?)del
NC_000007.14:g.(?_5991973)_(5999275_?)del
NC_000007.14:g.(?_5991973)_(6002636_?)del
NC_000007.14:g.(?_5991973)_(6006031_?)del
NC_000007.14:g.(?_5995524)_(5995643_?)del
NC_000007.14:g.(?_5995524)_(5997433_?)del
NC_000007.14:g.(?_5995524)_(5999285_?)del
NC_000007.14:g.(?_5995528)_(5995639_?)del
NC_000007.14:g.(?_5997316)_(5997433_?)del
NC_000007.14:g.(?_5997316)_(5999285_?)del
NC_000007.14:g.(?_5997316)_(6006041_?)del
NC_000007.14:g.(?_5997326)_(6004058_?)del
NC_000007.14:g.(?_5999098)_(5999285_?)del
NC_000007.14:g.(?_5999098)_(6006041_?)del
NC_000007.14:g.(?_6002443)_(6004068_?)del
NC_000007.14:g.(?_6002447)_(6004064_?)del
NC_000007.14:g.(?_6003680)_(6004068_?)del
NC_000007.14:g.(?_6003680)_(6006041_?)del
NC_000007.14:g.(?_6003690)_(6004058_?)del
NC_000007.14:g.(?_6005882)_(6006041_?)del
NC_000007.14:g.(?_6005886)_(6006037_?)del
NC_000007.14:g.(?_6008987)_(6009029_?)del
NM_000535.5(PMS2):c.(?_-87)_(*160_?)del
NM_000535.5(PMS2):c.(?_-87)_23+?del
NM_000535.5(PMS2):c.(?_989-5)_(2445+5_?)del
NM_000535.5(PMS2):c.-101A>G rs587779325
NM_000535.5(PMS2):c.-93G>A rs6976537
NM_000535.5(PMS2):c.1145-1350_*20545del
NM_000535.5(PMS2):c.354-?_(*160_?)del
NM_000535.5(PMS2):c.538-?_903+?del
NM_000535.5(PMS2):c.804-60_804-59insJN866832.1
NM_000535.5(PMS2):c.804-?_2006+?del
NM_000535.5(PMS2):c.904-10_*10del
NM_000535.5(PMS2):c.904-?_(*160_?)del
NM_000535.5(PMS2):c.904-?_1144+?del
NM_000535.5(PMS2):c.989-?_(*160_?)del
NM_000535.5(PMS2):c.989-?_1144+?del
NM_000535.5:c.(1144+1_1145-1)_(2174+1_2715-1)dup
NM_000535.6(PMS2):c.-48C>A rs886062402
NM_000535.6(PMS2):c.-49C>T rs952806552
NM_000535.6(PMS2):c.-53G>A rs559634583
NM_000535.6(PMS2):c.-87_537+?del
NM_000535.6(PMS2):c.-93G>T rs6976537
NM_000535.6(PMS2):c.1145-?_2174+?del
NM_000535.6(PMS2):c.1145-?_2174+?dup1030
NM_000535.6(PMS2):c.1169_1170ins20 (p.?)
NM_000535.6(PMS2):c.164-?_2006+?del
NM_000535.6(PMS2):c.2007-?_2174+?del
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs) rs1554294508
NM_000535.6(PMS2):c.2276-?_*160+?del
NM_000535.6(PMS2):c.2276-?_2445+?del
NM_000535.6(PMS2):c.24-?_163+?del
NM_000535.6(PMS2):c.354-?_803+?del
NM_000535.6(PMS2):c.706-?_803+?del
NM_000535.6(PMS2):c.736_741delCCCCCTins11 (p.?)
NM_000535.6(PMS2):c.804-?_903+?del
NM_000535.6(PMS2):c.904-?_988+?del
NM_000535.6:c.(803+1_804-1)_(903+1_904-1)del
NM_000535.7(PMS2):c.*92dup rs267608145
NM_000535.7(PMS2):c.1001T>C (p.Ile334Thr) rs1234321567
NM_000535.7(PMS2):c.1002C>T (p.Ile334=)
NM_000535.7(PMS2):c.1004A>C (p.Asn335Thr) rs200513014
NM_000535.7(PMS2):c.1004A>T (p.Asn335Ile) rs200513014
NM_000535.7(PMS2):c.1005T>C (p.Asn335=) rs1057523266
NM_000535.7(PMS2):c.1006G>A (p.Val336Ile)
NM_000535.7(PMS2):c.1008T>G (p.Val336=) rs1057521429
NM_000535.7(PMS2):c.1009dup (p.Thr337fs) rs1214597671
NM_000535.7(PMS2):c.100A>C (p.Ser34Arg) rs730881912
NM_000535.7(PMS2):c.100_112del (p.Ser34fs)
NM_000535.7(PMS2):c.1010C>A (p.Thr337Asn)
NM_000535.7(PMS2):c.1010C>T (p.Thr337Ile)
NM_000535.7(PMS2):c.1011T>C (p.Thr337=) rs1353232685
NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala) rs876660508
NM_000535.7(PMS2):c.1013C>A (p.Pro338Gln)
NM_000535.7(PMS2):c.1013C>T (p.Pro338Leu) rs1554298804
NM_000535.7(PMS2):c.1014_1015delinsTT (p.Asp339Tyr) rs2128748680
NM_000535.7(PMS2):c.1015G>A (p.Asp339Asn) rs780283029
NM_000535.7(PMS2):c.1015G>C (p.Asp339His)
NM_000535.7(PMS2):c.1016A>C (p.Asp339Ala) rs1783546106
NM_000535.7(PMS2):c.1016A>G (p.Asp339Gly) rs1783546106
NM_000535.7(PMS2):c.1017_1018insG (p.Lys340fs)
NM_000535.7(PMS2):c.1018A>G (p.Lys340Glu) rs1783545463
NM_000535.7(PMS2):c.101G>A (p.Ser34Asn) rs370612538
NM_000535.7(PMS2):c.101G>C (p.Ser34Thr) rs370612538
NM_000535.7(PMS2):c.1020_1023delinsTTTC (p.Lys340_Arg341delinsAsnPhe)
NM_000535.7(PMS2):c.1021A>C (p.Arg341=)
NM_000535.7(PMS2):c.1021del (p.Arg341fs) rs63750049
NM_000535.7(PMS2):c.1023G>T (p.Arg341Ser)
NM_000535.7(PMS2):c.1025A>G (p.Gln342Arg) rs1554298797
NM_000535.7(PMS2):c.1025_1027del (p.Gln342_Ile343delinsLeu)
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.1027del (p.Ile343fs) rs1562644987
NM_000535.7(PMS2):c.102T>C (p.Ser34=)
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.1033C>G (p.Leu345Val)
NM_000535.7(PMS2):c.1035dup (p.Gln346fs)
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter) rs1554298786
NM_000535.7(PMS2):c.1037A>C (p.Gln346Pro)
NM_000535.7(PMS2):c.1037A>G (p.Gln346Arg) rs752268571
NM_000535.7(PMS2):c.103C>G (p.Leu35Val)
NM_000535.7(PMS2):c.1040A>G (p.Glu347Gly) rs878854031
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp) rs150515238
NM_000535.7(PMS2):c.1042G>A (p.Glu348Lys) rs1783538909
NM_000535.7(PMS2):c.1042G>C (p.Glu348Gln) rs1783538909
NM_000535.7(PMS2):c.1046A>C (p.Lys349Thr) rs1562644757
NM_000535.7(PMS2):c.1047G>T (p.Lys349Asn) rs1422380612
NM_000535.7(PMS2):c.1048C>A (p.Leu350Ile)
NM_000535.7(PMS2):c.1048C>G (p.Leu350Val) rs587782875
NM_000535.7(PMS2):c.1048del (p.Leu350fs)
NM_000535.7(PMS2):c.1051T>C (p.Leu351=) rs1554298759
NM_000535.7(PMS2):c.1052T>G (p.Leu351Trp) rs1783536235
NM_000535.7(PMS2):c.1052del (p.Leu351fs)
NM_000535.7(PMS2):c.1053G>A (p.Leu351=) rs1060503145
NM_000535.7(PMS2):c.1053G>C (p.Leu351Phe) rs1060503145
NM_000535.7(PMS2):c.1053del (p.Leu351fs) rs1554298756
NM_000535.7(PMS2):c.1054T>C (p.Leu352=) rs1554298752
NM_000535.7(PMS2):c.1055T>C (p.Leu352Ser) rs1060503134
NM_000535.7(PMS2):c.1056_1057delinsAT (p.Ala353Ser) rs2128748122
NM_000535.7(PMS2):c.1057G>T (p.Ala353Ser) rs587782826
NM_000535.7(PMS2):c.1058C>A (p.Ala353Glu) rs543676323
NM_000535.7(PMS2):c.1059A>C (p.Ala353=)
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.1060G>A (p.Val354Ile) rs750984324
NM_000535.7(PMS2):c.1063T>A (p.Leu355Ile) rs1783533003
NM_000535.7(PMS2):c.1063T>G (p.Leu355Val)
NM_000535.7(PMS2):c.1064T>G (p.Leu355Ter) rs1783532593
NM_000535.7(PMS2):c.1067del (p.Lys356fs) rs587781395
NM_000535.7(PMS2):c.1068G>A (p.Lys356=) rs528499793
NM_000535.7(PMS2):c.1068G>T (p.Lys356Asn) rs528499793
NM_000535.7(PMS2):c.1068del (p.Thr357fs) rs1554298741
NM_000535.7(PMS2):c.106A>G (p.Ser36Gly) rs587781918
NM_000535.7(PMS2):c.1070C>A (p.Thr357Asn) rs980612510
NM_000535.7(PMS2):c.1070C>G (p.Thr357Ser) rs980612510
NM_000535.7(PMS2):c.1070C>T (p.Thr357Ile) rs980612510
NM_000535.7(PMS2):c.1071del (p.Ser358fs) rs1783529876
NM_000535.7(PMS2):c.1072T>G (p.Ser358Ala) rs767755376
NM_000535.7(PMS2):c.1073C>G (p.Ser358Cys) rs762299041
NM_000535.7(PMS2):c.1073C>T (p.Ser358Phe) rs762299041
NM_000535.7(PMS2):c.1075T>G (p.Leu359Val) rs730881910
NM_000535.7(PMS2):c.1076T>C (p.Leu359Ser) rs1783527422
NM_000535.7(PMS2):c.1076dup (p.Leu359fs) rs267608156
NM_000535.7(PMS2):c.1077G>T (p.Leu359Phe) rs2128747810
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.1082G>C (p.Gly361Ala) rs1064793540
NM_000535.7(PMS2):c.1085T>A (p.Met362Lys) rs2128747721
NM_000535.7(PMS2):c.1085T>C (p.Met362Thr)
NM_000535.7(PMS2):c.1086G>A (p.Met362Ile) rs1783524610
NM_000535.7(PMS2):c.1087T>G (p.Phe363Val) rs2128747692
NM_000535.7(PMS2):c.1089T>G (p.Phe363Leu)
NM_000535.7(PMS2):c.108C>T (p.Ser36=) rs1368578377
NM_000535.7(PMS2):c.1090G>C (p.Asp364His) rs2128747657
NM_000535.7(PMS2):c.1092T>C (p.Asp364=) rs370066853
NM_000535.7(PMS2):c.1094G>C (p.Ser365Thr) rs1554298690
NM_000535.7(PMS2):c.1097A>G (p.Asp366Gly) rs1357791251
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.109A>G (p.Thr37Ala) rs876659883
NM_000535.7(PMS2):c.109A>T (p.Thr37Ser)
NM_000535.7(PMS2):c.10G>A (p.Ala4Thr)
NM_000535.7(PMS2):c.10G>C (p.Ala4Pro) rs1786257764
NM_000535.7(PMS2):c.10G>T (p.Ala4Ser)
NM_000535.7(PMS2):c.1101C>A (p.Val367=) rs1583334498
NM_000535.7(PMS2):c.1101C>G (p.Val367=) rs1583334498
NM_000535.7(PMS2):c.1104C>G (p.Asn368Lys) rs1554298686
NM_000535.7(PMS2):c.1104C>T (p.Asn368=) rs1554298686
NM_000535.7(PMS2):c.1107G>A (p.Lys369=) rs1554298683
NM_000535.7(PMS2):c.1109T>C (p.Leu370Pro) rs1338014748
NM_000535.7(PMS2):c.1110A>G (p.Leu370=) rs1554298681
NM_000535.7(PMS2):c.1111A>C (p.Asn371His) rs1217473969
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.1113T>G (p.Asn371Lys) rs989130272
NM_000535.7(PMS2):c.1114G>A (p.Val372Ile) rs1554298669
NM_000535.7(PMS2):c.1114G>T (p.Val372Phe)
NM_000535.7(PMS2):c.1117A>G (p.Ser373Gly) rs1060503125
NM_000535.7(PMS2):c.1117dup (p.Ser373fs) rs1783516106
NM_000535.7(PMS2):c.1119T>A (p.Ser373Arg) rs1060503147
NM_000535.7(PMS2):c.1119T>G (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.1121AGC[1] (p.Gln375del) rs1583334101
NM_000535.7(PMS2):c.1123C>G (p.Gln375Glu) rs956005905
NM_000535.7(PMS2):c.1123C>T (p.Gln375Ter) rs956005905
NM_000535.7(PMS2):c.1125G>A (p.Gln375=) rs1060504838
NM_000535.7(PMS2):c.1126C>G (p.Pro376Ala)
NM_000535.7(PMS2):c.1127C>T (p.Pro376Leu)
NM_000535.7(PMS2):c.1129C>A (p.Leu377Met)
NM_000535.7(PMS2):c.1129C>G (p.Leu377Val) rs1583334058
NM_000535.7(PMS2):c.1129CTG[1] (p.Leu378del) rs1783510412
NM_000535.7(PMS2):c.112G>T (p.Ala38Ser) rs1554306427
NM_000535.7(PMS2):c.1130T>C (p.Leu377Pro) rs1583334040
NM_000535.7(PMS2):c.1131G>A (p.Leu377=) rs1064794687
NM_000535.7(PMS2):c.1132C>T (p.Leu378=)
NM_000535.7(PMS2):c.1133T>C (p.Leu378Pro) rs1783510761
NM_000535.7(PMS2):c.1134G>C (p.Leu378=) rs754576828
NM_000535.7(PMS2):c.1136A>C (p.Asp379Ala) rs536031711
NM_000535.7(PMS2):c.1138G>A (p.Val380Ile)
NM_000535.7(PMS2):c.1139T>C (p.Val380Ala) rs748971523
NM_000535.7(PMS2):c.113C>A (p.Ala38Glu) rs148270248
NM_000535.7(PMS2):c.1144+10A>G
NM_000535.7(PMS2):c.1144+11T>A
NM_000535.7(PMS2):c.1144+11T>C rs2128746706
NM_000535.7(PMS2):c.1144+12A>G
NM_000535.7(PMS2):c.1144+13C>G
NM_000535.7(PMS2):c.1144+14A>G rs1201720145
NM_000535.7(PMS2):c.1144+15G>A
NM_000535.7(PMS2):c.1144+16T>A
NM_000535.7(PMS2):c.1144+16T>C
NM_000535.7(PMS2):c.1144+16T>G rs576317272
NM_000535.7(PMS2):c.1144+17G>A
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+20C>G rs750883624
NM_000535.7(PMS2):c.1144+2T>A rs267608158
NM_000535.7(PMS2):c.1144+2T>G
NM_000535.7(PMS2):c.1144+3A>T rs1430015665
NM_000535.7(PMS2):c.1144+4A>G rs1554298642
NM_000535.7(PMS2):c.1144+5G>C rs1783506726
NM_000535.7(PMS2):c.1144+5del rs878854032
NM_000535.7(PMS2):c.1144+6A>G rs990022128
NM_000535.7(PMS2):c.1144+9A>C rs2128746726
NM_000535.7(PMS2):c.1144+9A>T
NM_000535.7(PMS2):c.1144G>A (p.Gly382Ser) rs779512948
NM_000535.7(PMS2):c.1144G>C (p.Gly382Arg) rs779512948
NM_000535.7(PMS2):c.1145-10G>T rs533551639
NM_000535.7(PMS2):c.1145-11C>T rs558565527
NM_000535.7(PMS2):c.1145-14C>A
NM_000535.7(PMS2):c.1145-15T>C rs1783194597
NM_000535.7(PMS2):c.1145-16G>T rs576825560
NM_000535.7(PMS2):c.1145-18C>G rs2128737763
NM_000535.7(PMS2):c.1145-1_2006+2del rs2128719778
NM_000535.7(PMS2):c.1145-24T>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>A rs267608157
NM_000535.7(PMS2):c.1145-5C>G
NM_000535.7(PMS2):c.1145-5C>T rs267608157
NM_000535.7(PMS2):c.1145-6G>A
NM_000535.7(PMS2):c.1145-7T>G rs1554298099
NM_000535.7(PMS2):c.1145-8T>G rs1554298100
NM_000535.7(PMS2):c.1145-982_2006+2del
NM_000535.7(PMS2):c.1145G>A (p.Gly382Asp) rs876661243
NM_000535.7(PMS2):c.1146T>C (p.Gly382=) rs1554298091
NM_000535.7(PMS2):c.1146T>G (p.Gly382=) rs1554298091
NM_000535.7(PMS2):c.1147A>G (p.Asn383Asp) rs1583324090
NM_000535.7(PMS2):c.1148A>G (p.Asn383Ser) rs1562637184
NM_000535.7(PMS2):c.1149C>G (p.Asn383Lys) rs1562637166
NM_000535.7(PMS2):c.114G>T (p.Ala38=) rs558032755
NM_000535.7(PMS2):c.1150T>G (p.Leu384Val)
NM_000535.7(PMS2):c.1151T>A (p.Leu384Ter)
NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter) rs1554298087
NM_000535.7(PMS2):c.1153A>C (p.Ile385Leu)
NM_000535.7(PMS2):c.1154del (p.Ile385fs) rs2128737282
NM_000535.7(PMS2):c.1158_1159del (p.Lys386fs)
NM_000535.7(PMS2):c.1159A>C (p.Met387Leu) rs876658440
NM_000535.7(PMS2):c.1159del (p.Met387fs) rs2128737155
NM_000535.7(PMS2):c.115G>T (p.Val39Leu) rs1785697288
NM_000535.7(PMS2):c.1160T>C (p.Met387Thr)
NM_000535.7(PMS2):c.1160dup (p.Met387fs)
NM_000535.7(PMS2):c.1162C>T (p.His388Tyr) rs1783188601
NM_000535.7(PMS2):c.1163A>G (p.His388Arg) rs1178645647
NM_000535.7(PMS2):c.1164T>C (p.His388=) rs768480216
NM_000535.7(PMS2):c.1164del (p.His388fs) rs1554298082
NM_000535.7(PMS2):c.1165G>A (p.Ala389Thr) rs1562637025
NM_000535.7(PMS2):c.1166C>T (p.Ala389Val) rs1554298076
NM_000535.7(PMS2):c.1168G>T (p.Ala390Ser) rs1583323871
NM_000535.7(PMS2):c.1169C>A (p.Ala390Glu) rs587780039
NM_000535.7(PMS2):c.1169C>G (p.Ala390Gly) rs587780039
NM_000535.7(PMS2):c.116del (p.Val39fs) rs1064794152
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.1172A>C (p.Asp391Ala) rs1583323776
NM_000535.7(PMS2):c.1177G>T (p.Glu393Ter) rs1243063129
NM_000535.7(PMS2):c.1180A>G (p.Lys394Glu) rs1583323711
NM_000535.7(PMS2):c.1181A>G (p.Lys394Arg) rs1583323684
NM_000535.7(PMS2):c.1181del (p.Lys394fs) rs1554298067
NM_000535.7(PMS2):c.1182G>T (p.Lys394Asn) rs1197824645
NM_000535.7(PMS2):c.1184C>G (p.Pro395Arg) rs1783180882
NM_000535.7(PMS2):c.1185C>T (p.Pro395=) rs1562636721
NM_000535.7(PMS2):c.1185del (p.Met396fs) rs786204104
NM_000535.7(PMS2):c.1186A>C (p.Met396Leu)
NM_000535.7(PMS2):c.1187T>C (p.Met396Thr) rs786202704
NM_000535.7(PMS2):c.1187T>G (p.Met396Arg) rs786202704
NM_000535.7(PMS2):c.1188G>A (p.Met396Ile) rs1170825702
NM_000535.7(PMS2):c.1188G>C (p.Met396Ile) rs1170825702
NM_000535.7(PMS2):c.1191A>G (p.Val397=) rs864622595
NM_000535.7(PMS2):c.1195A>G (p.Lys399Glu)
NM_000535.7(PMS2):c.1196A>G (p.Lys399Arg) rs1583323473
NM_000535.7(PMS2):c.1196dup (p.Gln400fs) rs1554298056
NM_000535.7(PMS2):c.1197G>C (p.Lys399Asn)
NM_000535.7(PMS2):c.1197G>T (p.Lys399Asn) rs757730609
NM_000535.7(PMS2):c.1198C>G (p.Gln400Glu)
NM_000535.7(PMS2):c.1199A>G (p.Gln400Arg) rs148069478
NM_000535.7(PMS2):c.119A>C (p.Lys40Thr)
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.1201G>T (p.Asp401Tyr) rs1284362486
NM_000535.7(PMS2):c.1203T>A (p.Asp401Glu) rs1057522327
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.1204C>G (p.Gln402Glu) rs587782789
NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)
NM_000535.7(PMS2):c.1205A>G (p.Gln402Arg) rs1583323301
NM_000535.7(PMS2):c.1206A>G (p.Gln402=)
NM_000535.7(PMS2):c.1206del (p.Gln402fs) rs1562636427
NM_000535.7(PMS2):c.1208C>A (p.Ser403Tyr) rs1004189664
NM_000535.7(PMS2):c.1209C>A (p.Ser403=) rs147399413
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.120G>A (p.Lys40=) rs1060504843
NM_000535.7(PMS2):c.1210C>T (p.Pro404Ser)
NM_000535.7(PMS2):c.1210_1211del (p.Pro404fs) rs2128736116
NM_000535.7(PMS2):c.1211C>T (p.Pro404Leu) rs536111818
NM_000535.7(PMS2):c.1211del (p.Pro404fs)
NM_000535.7(PMS2):c.1212T>C (p.Pro404=)
NM_000535.7(PMS2):c.1213T>C (p.Ser405Pro)
NM_000535.7(PMS2):c.1214C>T (p.Ser405Leu) rs1554298036
NM_000535.7(PMS2):c.1215A>G (p.Ser405=)
NM_000535.7(PMS2):c.1216T>C (p.Leu406=) rs2128736019
NM_000535.7(PMS2):c.1217T>G (p.Leu406Ter)
NM_000535.7(PMS2):c.1218A>G (p.Leu406=) rs1583323141
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.1220G>A (p.Arg407Lys) rs766400994
NM_000535.7(PMS2):c.1220G>C (p.Arg407Thr)
NM_000535.7(PMS2):c.1221G>A (p.Arg407=) rs1305178511
NM_000535.7(PMS2):c.1221del (p.Thr408fs) rs587776715
NM_000535.7(PMS2):c.1222A>G (p.Thr408Ala) rs1783169137
NM_000535.7(PMS2):c.1223del (p.Thr408fs)
NM_000535.7(PMS2):c.1224T>C (p.Thr408=) rs1554298007
NM_000535.7(PMS2):c.1224T>G (p.Thr408=)
NM_000535.7(PMS2):c.1225G>A (p.Gly409Arg) rs864622553
NM_000535.7(PMS2):c.1226G>A (p.Gly409Glu) rs1554298002
NM_000535.7(PMS2):c.1226G>T (p.Gly409Val) rs1554298002
NM_000535.7(PMS2):c.1228G>A (p.Glu410Lys) rs1358586679
NM_000535.7(PMS2):c.122A>G (p.Glu41Gly) rs1562701448
NM_000535.7(PMS2):c.122del (p.Glu41fs)
NM_000535.7(PMS2):c.1231G>A (p.Glu411Lys) rs1159969834
NM_000535.7(PMS2):c.1231_1232delinsTT (p.Glu411Leu) rs786202871
NM_000535.7(PMS2):c.1231dup (p.Glu411fs)
NM_000535.7(PMS2):c.1232A>C (p.Glu411Ala) rs587782832
NM_000535.7(PMS2):c.1232A>G (p.Glu411Gly) rs587782832
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.1237_1239del (p.Lys413del) rs267608159
NM_000535.7(PMS2):c.1237_1239delinsGGG (p.Lys413Gly) rs1562635824
NM_000535.7(PMS2):c.1238A>C (p.Lys413Thr) rs1445088475
NM_000535.7(PMS2):c.1238_1239del (p.Lys413fs)
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg) rs587780041
NM_000535.7(PMS2):c.1239A>C (p.Lys413Asn)
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.123G>A (p.Glu41=) rs1583418794
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del) rs863224676
NM_000535.7(PMS2):c.1240G>A (p.Asp414Asn) rs370752614
NM_000535.7(PMS2):c.1240G>C (p.Asp414His) rs370752614
NM_000535.7(PMS2):c.1241A>T (p.Asp414Val)
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>A (p.Ser416Tyr) rs1554297981
NM_000535.7(PMS2):c.1247C>G (p.Ser416Cys) 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.1249_1253dup (p.Arg419fs)
NM_000535.7(PMS2):c.1251T>G (p.Ile417Met) rs1057521136
NM_000535.7(PMS2):c.1253C>G (p.Ser418Cys) rs587782640
NM_000535.7(PMS2):c.1254C>G (p.Ser418=) rs2128735114
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
NM_000535.7(PMS2):c.1255A>G (p.Arg419Gly) rs1554297975
NM_000535.7(PMS2):c.1256G>C (p.Arg419Thr) rs1783156550
NM_000535.7(PMS2):c.1256G>T (p.Arg419Ile)
NM_000535.7(PMS2):c.1258C>G (p.Leu420Val) rs1783155735
NM_000535.7(PMS2):c.1259T>C (p.Leu420Pro) rs747495075
NM_000535.7(PMS2):c.125TAG[1] (p.Val43del) rs1064794820
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.1264G>T (p.Glu422Ter) rs587782175
NM_000535.7(PMS2):c.1264del (p.Glu422fs)
NM_000535.7(PMS2):c.1265A>G (p.Glu422Gly) rs1562635355
NM_000535.7(PMS2):c.1266G>C (p.Glu422Asp) rs138049175
NM_000535.7(PMS2):c.1266_1281del (p.Glu422fs)
NM_000535.7(PMS2):c.1267G>A (p.Ala423Thr) rs587778619
NM_000535.7(PMS2):c.1268C>T (p.Ala423Val) rs756883400
NM_000535.7(PMS2):c.1269C>G (p.Ala423=) rs921253631
NM_000535.7(PMS2):c.1269C>T (p.Ala423=) rs921253631
NM_000535.7(PMS2):c.1270T>C (p.Phe424Leu) rs1562635229
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser) rs876661186
NM_000535.7(PMS2):c.1273_1274insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGAGAGGCCTTTT (p.Ser425delinsPhePhePhePhePhePhePheXaaXaaXaaXaaTer)
NM_000535.7(PMS2):c.1274C>G (p.Ser425Cys) rs1783150023
NM_000535.7(PMS2):c.1274C>T (p.Ser425Phe)
NM_000535.7(PMS2):c.1275_1279del (p.Leu426fs) rs1554297962
NM_000535.7(PMS2):c.1276C>G (p.Leu426Val)
NM_000535.7(PMS2):c.1276C>T (p.Leu426Phe) rs2128734575
NM_000535.7(PMS2):c.1277T>A (p.Leu426His) rs1783149672
NM_000535.7(PMS2):c.1278T>G (p.Leu426=) rs1554297963
NM_000535.7(PMS2):c.127G>A (p.Val43Ile) rs587780042
NM_000535.7(PMS2):c.1280G>T (p.Arg427Leu)
NM_000535.7(PMS2):c.1281T>C (p.Arg427=) rs570853668
NM_000535.7(PMS2):c.1281del (p.His428fs) rs1783147885
NM_000535.7(PMS2):c.1282C>T (p.His428Tyr) rs1554297948
NM_000535.7(PMS2):c.1283A>G (p.His428Arg) rs1583322096
NM_000535.7(PMS2):c.1284C>T (p.His428=) rs1583322072
NM_000535.7(PMS2):c.1285A>G (p.Thr429Ala) rs1450566410
NM_000535.7(PMS2):c.1285A>T (p.Thr429Ser)
NM_000535.7(PMS2):c.1286C>A (p.Thr429Lys)
NM_000535.7(PMS2):c.1288A>T (p.Thr430Ser) rs587781382
NM_000535.7(PMS2):c.1289C>G (p.Thr430Arg) rs1583322001
NM_000535.7(PMS2):c.1289_1292del (p.Thr430fs)
NM_000535.7(PMS2):c.1293G>A (p.Glu431=) rs2128734164
NM_000535.7(PMS2):c.1295A>G (p.Asn432Ser) rs1583321984
NM_000535.7(PMS2):c.1296C>G (p.Asn432Lys) rs1562635023
NM_000535.7(PMS2):c.1296del (p.Asn432fs)
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter) rs863224496
NM_000535.7(PMS2):c.1298A>C (p.Lys433Thr) rs1064796375
NM_000535.7(PMS2):c.129del (p.Glu44fs) rs1060503148
NM_000535.7(PMS2):c.12T>C (p.Ala4=)
NM_000535.7(PMS2):c.12dup (p.Glu5Ter) rs1282857832
NM_000535.7(PMS2):c.1301C>G (p.Pro434Arg) rs1554297919
NM_000535.7(PMS2):c.1301C>T (p.Pro434Leu) rs1554297919
NM_000535.7(PMS2):c.1303C>T (p.His435Tyr) rs148956636
NM_000535.7(PMS2):c.1304A>G (p.His435Arg)
NM_000535.7(PMS2):c.1305C>G (p.His435Gln)
NM_000535.7(PMS2):c.1306A>G (p.Ser436Gly) rs1583321782
NM_000535.7(PMS2):c.1306dup (p.Ser436fs) rs63750106
NM_000535.7(PMS2):c.1307G>A (p.Ser436Asn) rs876658441
NM_000535.7(PMS2):c.1308C>G (p.Ser436Arg)
NM_000535.7(PMS2):c.130G>T (p.Glu44Ter) rs786202669
NM_000535.7(PMS2):c.1310C>T (p.Pro437Leu) rs1783139001
NM_000535.7(PMS2):c.1311A>G (p.Pro437=) rs1554297898
NM_000535.7(PMS2):c.1312A>C (p.Lys438Gln) rs878854033
NM_000535.7(PMS2):c.1312A>G (p.Lys438Glu) rs878854033
NM_000535.7(PMS2):c.1313dup (p.Thr439fs) rs1562634737
NM_000535.7(PMS2):c.1314G>T (p.Lys438Asn)
NM_000535.7(PMS2):c.1315A>G (p.Thr439Ala)
NM_000535.7(PMS2):c.1318C>A (p.Pro440Thr) rs762894051
NM_000535.7(PMS2):c.1318C>T (p.Pro440Ser)
NM_000535.7(PMS2):c.1319C>T (p.Pro440Leu) rs1064793233
NM_000535.7(PMS2):c.131A>G (p.Glu44Gly) rs876659955
NM_000535.7(PMS2):c.1321G>C (p.Glu441Gln) rs1783135008
NM_000535.7(PMS2):c.1322A>G (p.Glu441Gly) rs1562634610
NM_000535.7(PMS2):c.1324C>A (p.Pro442Thr)
NM_000535.7(PMS2):c.1324C>T (p.Pro442Ser) rs1783134322
NM_000535.7(PMS2):c.1325C>T (p.Pro442Leu)
NM_000535.7(PMS2):c.1326A>G (p.Pro442=) rs878854034
NM_000535.7(PMS2):c.1327A>C (p.Arg443=) rs1222691058
NM_000535.7(PMS2):c.1327A>G (p.Arg443Gly) rs1222691058
NM_000535.7(PMS2):c.1329A>T (p.Arg443Ser) rs192720342
NM_000535.7(PMS2):c.1329_1330dup (p.Arg444fs)
NM_000535.7(PMS2):c.132A>C (p.Glu44Asp)
NM_000535.7(PMS2):c.1331G>T (p.Arg444Met) rs1241272236
NM_000535.7(PMS2):c.1332G>A (p.Arg444=) 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.1336C>G (p.Pro446Ala)
NM_000535.7(PMS2):c.1336C>T (p.Pro446Ser) rs2128733048
NM_000535.7(PMS2):c.1336_1402del (p.Ser445_Pro446insTer) rs1562633331
NM_000535.7(PMS2):c.1338T>C (p.Pro446=) rs786203033
NM_000535.7(PMS2):c.1339C>G (p.Leu447Val) rs1783129874
NM_000535.7(PMS2):c.1341A>G (p.Leu447=) rs1583321424
NM_000535.7(PMS2):c.1342G>A (p.Gly448Arg) rs786203757
NM_000535.7(PMS2):c.1343G>A (p.Gly448Glu) rs1060503118
NM_000535.7(PMS2):c.1343G>C (p.Gly448Ala) rs1060503118
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.1348A>T (p.Lys450Ter) rs1060503142
NM_000535.7(PMS2):c.1349A>G (p.Lys450Arg) rs1783126726
NM_000535.7(PMS2):c.134A>G (p.Asn45Ser) rs1554306353
NM_000535.7(PMS2):c.1350A>G (p.Lys450=) rs1057521836
NM_000535.7(PMS2):c.1351del (p.Arg451fs) rs1562634268
NM_000535.7(PMS2):c.1352G>C (p.Arg451Thr) rs876660834
NM_000535.7(PMS2):c.1353G>C (p.Arg451Ser)
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.1354G>T (p.Gly452Cys) rs569947936
NM_000535.7(PMS2):c.1354_1355del (p.Gly452fs)
NM_000535.7(PMS2):c.1355G>C (p.Gly452Ala)
NM_000535.7(PMS2):c.1355G>T (p.Gly452Val) rs1490598044
NM_000535.7(PMS2):c.1356T>G (p.Gly452=) rs786202946
NM_000535.7(PMS2):c.1356del (p.Met453fs) rs1783123619
NM_000535.7(PMS2):c.1357A>T (p.Met453Leu)
NM_000535.7(PMS2):c.1358T>C (p.Met453Thr) rs1060503130
NM_000535.7(PMS2):c.1358T>G (p.Met453Arg) rs1060503130
NM_000535.7(PMS2):c.1359G>A (p.Met453Ile) rs886062401
NM_000535.7(PMS2):c.1359G>T (p.Met453Ile) rs886062401
NM_000535.7(PMS2):c.1360C>G (p.Leu454Val)
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.1366T>G (p.Ser456Ala) rs2128732309
NM_000535.7(PMS2):c.1366del (p.Ser456fs) rs1583320992
NM_000535.7(PMS2):c.1369A>G (p.Ser457Gly) rs2128732252
NM_000535.7(PMS2):c.136A>G (p.Ser46Gly) rs1554306350
NM_000535.7(PMS2):c.1371C>T (p.Ser457=) rs1060504840
NM_000535.7(PMS2):c.1372A>G (p.Thr458Ala) rs779306532
NM_000535.7(PMS2):c.1373C>A (p.Thr458Asn) rs755348833
NM_000535.7(PMS2):c.1373C>T (p.Thr458Ile) rs755348833
NM_000535.7(PMS2):c.1374T>G (p.Thr458=)
NM_000535.7(PMS2):c.1375del (p.Ser459fs) rs1783113930
NM_000535.7(PMS2):c.1376C>A (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter) rs587780724
NM_000535.7(PMS2):c.1376C>T (p.Ser459Leu) 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.1385T>A (p.Ile462Asn) rs1562633639
NM_000535.7(PMS2):c.1386C>G (p.Ile462Met) rs750448069
NM_000535.7(PMS2):c.1390G>C (p.Asp464His)
NM_000535.7(PMS2):c.1391A>T (p.Asp464Val) rs1583320657
NM_000535.7(PMS2):c.1392C>T (p.Asp464=)
NM_000535.7(PMS2):c.1393A>C (p.Lys465Gln) rs1060503135
NM_000535.7(PMS2):c.1394A>C (p.Lys465Thr) rs141084758
NM_000535.7(PMS2):c.1395A>C (p.Lys465Asn) rs1208428952
NM_000535.7(PMS2):c.1396G>A (p.Gly466Ser) rs1783106566
NM_000535.7(PMS2):c.1396G>C (p.Gly466Arg) rs1783106566
NM_000535.7(PMS2):c.1397G>A (p.Gly466Asp) rs1339878885
NM_000535.7(PMS2):c.1397G>T (p.Gly466Val) rs1339878885
NM_000535.7(PMS2):c.1398C>G (p.Gly466=) rs752666485
NM_000535.7(PMS2):c.1399G>C (p.Val467Leu) rs373611083
NM_000535.7(PMS2):c.139C>T (p.Leu47=)
NM_000535.7(PMS2):c.139_146del (p.Leu47fs) rs886039615
NM_000535.7(PMS2):c.13G>A (p.Glu5Lys) rs372539944
NM_000535.7(PMS2):c.1402C>G (p.Leu468Val) rs759306219
NM_000535.7(PMS2):c.1402C>T (p.Leu468=) rs759306219
NM_000535.7(PMS2):c.1405A>C (p.Arg469=) rs2128731402
NM_000535.7(PMS2):c.1406G>A (p.Arg469Lys) rs1783102663
NM_000535.7(PMS2):c.1407_1408inv (p.Pro470Ser)
NM_000535.7(PMS2):c.1408delinsTGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGA (p.Pro470delinsCysLeuLeuAlaLeuGlnValProSerLeuThrLysAlaSerTer)
NM_000535.7(PMS2):c.1409C>T (p.Pro470Leu) rs1783101060
NM_000535.7(PMS2):c.1414A>T (p.Lys472Ter) rs1562633172
NM_000535.7(PMS2):c.1415A>G (p.Lys472Arg)
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.1419G>C (p.Glu473Asp) rs2128731146
NM_000535.7(PMS2):c.141G>A (p.Leu47=) rs2128844174
NM_000535.7(PMS2):c.1420G>A (p.Ala474Thr) rs373114291
NM_000535.7(PMS2):c.1422A>C (p.Ala474=) rs1057522125
NM_000535.7(PMS2):c.1422A>G (p.Ala474=) rs1057522125
NM_000535.7(PMS2):c.1423G>A (p.Val475Met) rs864622579
NM_000535.7(PMS2):c.1423G>T (p.Val475Leu) rs864622579
NM_000535.7(PMS2):c.1424T>A (p.Val475Glu) rs587781827
NM_000535.7(PMS2):c.1424T>G (p.Val475Gly) rs587781827
NM_000535.7(PMS2):c.1425_1428del (p.Ser476fs) rs1554297764
NM_000535.7(PMS2):c.1427G>A (p.Ser476Asn)
NM_000535.7(PMS2):c.1427G>C (p.Ser476Thr) rs1583320215
NM_000535.7(PMS2):c.1428T>C (p.Ser476=) rs1562632936
NM_000535.7(PMS2):c.1429T>A (p.Ser477Thr) rs1554297760
NM_000535.7(PMS2):c.142G>A (p.Asp48Asn) rs755665894
NM_000535.7(PMS2):c.142G>C (p.Asp48His)
NM_000535.7(PMS2):c.142del (p.Asp48fs) rs1064794173
NM_000535.7(PMS2):c.1430C>A (p.Ser477Tyr) rs876661291
NM_000535.7(PMS2):c.1430C>G (p.Ser477Cys)
NM_000535.7(PMS2):c.1430C>T (p.Ser477Phe)
NM_000535.7(PMS2):c.1431C>T (p.Ser477=) rs2128730813
NM_000535.7(PMS2):c.1433G>C (p.Ser478Thr) rs748643694
NM_000535.7(PMS2):c.1433G>T (p.Ser478Ile) rs748643694
NM_000535.7(PMS2):c.1435C>T (p.His479Tyr) rs376344586
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.1442C>A (p.Pro481His) rs1168365577
NM_000535.7(PMS2):c.1442C>G (p.Pro481Arg)
NM_000535.7(PMS2):c.1443C>G (p.Pro481=)
NM_000535.7(PMS2):c.1445G>C (p.Ser482Thr) rs2128730498
NM_000535.7(PMS2):c.1447G>A (p.Asp483Asn) rs1583319965
NM_000535.7(PMS2):c.1449C>G (p.Asp483Glu) rs1583319929
NM_000535.7(PMS2):c.1449C>T (p.Asp483=) rs1583319929
NM_000535.7(PMS2):c.1451C>G (p.Pro484Arg) rs1583319873
NM_000535.7(PMS2):c.1452T>A (p.Pro484=) rs1583319857
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met) rs1805323
NM_000535.7(PMS2):c.1456G>A (p.Asp486Asn)
NM_000535.7(PMS2):c.1456G>C (p.Asp486His) rs2128730228
NM_000535.7(PMS2):c.1457A>G (p.Asp486Gly) rs899935666
NM_000535.7(PMS2):c.1458C>T (p.Asp486=) rs1554297734
NM_000535.7(PMS2):c.1459A>G (p.Arg487Gly)
NM_000535.7(PMS2):c.145G>A (p.Ala49Thr) rs1583418527
NM_000535.7(PMS2):c.145G>C (p.Ala49Pro)
NM_000535.7(PMS2):c.1460G>C (p.Arg487Thr) rs1783084707
NM_000535.7(PMS2):c.1462G>A (p.Ala488Thr) rs1783084396
NM_000535.7(PMS2):c.1463C>G (p.Ala488Gly)
NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys) rs876660060
NM_000535.7(PMS2):c.1467G>C (p.Glu489Asp) rs542522853
NM_000535.7(PMS2):c.1468G>T (p.Val490Leu) rs1783082219
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.1471G>A (p.Glu491Lys) rs1064794577
NM_000535.7(PMS2):c.1471G>C (p.Glu491Gln) rs1064794577
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>C (p.Glu491Asp) rs530105089
NM_000535.7(PMS2):c.1474A>C (p.Lys492Gln) rs1783080233
NM_000535.7(PMS2):c.1474_1476del (p.Lys492del) rs1783079655
NM_000535.7(PMS2):c.1475A>G (p.Lys492Arg) rs1583319590
NM_000535.7(PMS2):c.1476G>A (p.Lys492=) rs766309532
NM_000535.7(PMS2):c.1476G>T (p.Lys492Asn) rs766309532
NM_000535.7(PMS2):c.1477G>C (p.Asp493His) rs148642064
NM_000535.7(PMS2):c.1479C>T (p.Asp493=) rs773048076
NM_000535.7(PMS2):c.147T>C (p.Ala49=)
NM_000535.7(PMS2):c.1481C>A (p.Ser494Ter) rs587782602
NM_000535.7(PMS2):c.1481C>G (p.Ser494Trp) rs587782602
NM_000535.7(PMS2):c.1482G>A (p.Ser494=) rs864622398
NM_000535.7(PMS2):c.1482G>C (p.Ser494=)
NM_000535.7(PMS2):c.1482G>T (p.Ser494=) rs864622398
NM_000535.7(PMS2):c.1483G>C (p.Gly495Arg) rs1554297701
NM_000535.7(PMS2):c.1484G>A (p.Gly495Glu) rs1064793846
NM_000535.7(PMS2):c.1484G>C (p.Gly495Ala) rs1064793846
NM_000535.7(PMS2):c.1485G>T (p.Gly495=) rs143865305
NM_000535.7(PMS2):c.1485dup (p.His496fs)
NM_000535.7(PMS2):c.1486C>A (p.His496Asn) rs1783075126
NM_000535.7(PMS2):c.1486dup (p.His496fs)
NM_000535.7(PMS2):c.1488C>A (p.His496Gln)
NM_000535.7(PMS2):c.1489G>T (p.Gly497Cys) rs749826312
NM_000535.7(PMS2):c.1491C>G (p.Gly497=) rs1783073609
NM_000535.7(PMS2):c.1492_1502del (p.Ser498fs) rs876660459
NM_000535.7(PMS2):c.1493G>A (p.Ser498Asn) rs1783073277
NM_000535.7(PMS2):c.1494C>G (p.Ser498Arg)
NM_000535.7(PMS2):c.1495A>G (p.Thr499Ala) rs1060503117
NM_000535.7(PMS2):c.1496C>G (p.Thr499Ser)
NM_000535.7(PMS2):c.1498T>C (p.Ser500Pro) rs1783071898
NM_000535.7(PMS2):c.1499C>A (p.Ser500Tyr)
NM_000535.7(PMS2):c.149G>T (p.Gly50Val)
NM_000535.7(PMS2):c.149del (p.Gly50fs)
NM_000535.7(PMS2):c.14A>G (p.Glu5Gly) rs876659080
NM_000535.7(PMS2):c.1500_1501delinsTC (p.Val501Leu)
NM_000535.7(PMS2):c.1500del (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1500dup (p.Val501fs) rs759151952
NM_000535.7(PMS2):c.1504G>A (p.Asp502Asn)
NM_000535.7(PMS2):c.1507T>C (p.Ser503Pro) rs864622497
NM_000535.7(PMS2):c.1507T>G (p.Ser503Ala) rs864622497
NM_000535.7(PMS2):c.1508C>T (p.Ser503Phe) rs777920014
NM_000535.7(PMS2):c.1509T>C (p.Ser503=) rs2128729081
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly) rs1254121331
NM_000535.7(PMS2):c.1513G>A (p.Gly505Arg) rs1554297662
NM_000535.7(PMS2):c.1513G>T (p.Gly505Trp) rs1554297662
NM_000535.7(PMS2):c.1514G>A (p.Gly505Glu)
NM_000535.7(PMS2):c.1514G>T (p.Gly505Val) rs1783066325
NM_000535.7(PMS2):c.1515del (p.Phe506fs) rs1583319050
NM_000535.7(PMS2):c.1517T>A (p.Phe506Tyr) rs1325463342
NM_000535.7(PMS2):c.1518C>T (p.Phe506=) rs1554297654
NM_000535.7(PMS2):c.1519A>T (p.Ser507Cys)
NM_000535.7(PMS2):c.151G>A (p.Ala51Thr)
NM_000535.7(PMS2):c.1520G>C (p.Ser507Thr)
NM_000535.7(PMS2):c.1521C>T (p.Ser507=)
NM_000535.7(PMS2):c.1522A>G (p.Ile508Val) rs63750272
NM_000535.7(PMS2):c.1522A>T (p.Ile508Phe) rs63750272
NM_000535.7(PMS2):c.1524C>T (p.Ile508=)
NM_000535.7(PMS2):c.1525C>T (p.Pro509Ser)
NM_000535.7(PMS2):c.1526C>T (p.Pro509Leu) rs63750503
NM_000535.7(PMS2):c.1529A>G (p.Asp510Gly)
NM_000535.7(PMS2):c.152C>A (p.Ala51Asp) rs1583418405
NM_000535.7(PMS2):c.1531A>T (p.Thr511Ser) rs2228007
NM_000535.7(PMS2):c.1532del (p.Thr511fs) rs1554297636
NM_000535.7(PMS2):c.1533G>C (p.Thr511=) rs542520309
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.1534G>T (p.Gly512Cys) rs1060503127
NM_000535.7(PMS2):c.1535G>A (p.Gly512Asp) rs1450081432
NM_000535.7(PMS2):c.1536C>A (p.Gly512=) rs1057523150
NM_000535.7(PMS2):c.1536C>T (p.Gly512=) rs1057523150
NM_000535.7(PMS2):c.1537A>G (p.Ser513Gly) rs1583318731
NM_000535.7(PMS2):c.1537A>T (p.Ser513Cys) rs1583318731
NM_000535.7(PMS2):c.1537del (p.Ser513fs)
NM_000535.7(PMS2):c.1538G>C (p.Ser513Thr) rs1562631126
NM_000535.7(PMS2):c.153C>G (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.1540C>T (p.His514Tyr) rs878854036
NM_000535.7(PMS2):c.1541A>C (p.His514Pro) rs2128728425
NM_000535.7(PMS2):c.1544G>A (p.Cys515Tyr)
NM_000535.7(PMS2):c.1545C>A (p.Cys515Ter)
NM_000535.7(PMS2):c.1545C>T (p.Cys515=) rs1057520347
NM_000535.7(PMS2):c.1546A>G (p.Ser516Gly) rs1554297592
NM_000535.7(PMS2):c.1546_1551del (p.Ser516_Ser517del) rs970418297
NM_000535.7(PMS2):c.1547G>A (p.Ser516Asn) rs2128728322
NM_000535.7(PMS2):c.1548C>A (p.Ser516Arg)
NM_000535.7(PMS2):c.1548C>T (p.Ser516=)
NM_000535.7(PMS2):c.154A>C (p.Thr52Pro)
NM_000535.7(PMS2):c.1550G>A (p.Ser517Asn) rs1562630934
NM_000535.7(PMS2):c.1550G>T (p.Ser517Ile) rs1562630934
NM_000535.7(PMS2):c.1551C>T (p.Ser517=) rs587782479
NM_000535.7(PMS2):c.1552G>C (p.Glu518Gln)
NM_000535.7(PMS2):c.1552G>T (p.Glu518Ter)
NM_000535.7(PMS2):c.1553A>T (p.Glu518Val)
NM_000535.7(PMS2):c.1553del (p.Glu518fs) rs1583318494
NM_000535.7(PMS2):c.1554G>A (p.Glu518=)
NM_000535.7(PMS2):c.1556A>C (p.Tyr519Ser)
NM_000535.7(PMS2):c.1556_1557del (p.Tyr519fs)
NM_000535.7(PMS2):c.1557T>G (p.Tyr519Ter) rs6972869
NM_000535.7(PMS2):c.1558G>A (p.Ala520Thr) rs1554297573
NM_000535.7(PMS2):c.1559del (p.Ala520fs) rs1554297564
NM_000535.7(PMS2):c.155C>G (p.Thr52Ser) rs1583418387
NM_000535.7(PMS2):c.155dup (p.Thr52_Asn53insTer)
NM_000535.7(PMS2):c.1560G>C (p.Ala520=) rs201167814
NM_000535.7(PMS2):c.1561G>A (p.Ala521Thr) rs1164227556
NM_000535.7(PMS2):c.1561G>T (p.Ala521Ser)
NM_000535.7(PMS2):c.1564A>G (p.Ser522Gly) rs1554297553
NM_000535.7(PMS2):c.1564A>T (p.Ser522Cys) rs1554297553
NM_000535.7(PMS2):c.1565G>C (p.Ser522Thr) rs1783049434
NM_000535.7(PMS2):c.1566C>T (p.Ser522=)
NM_000535.7(PMS2):c.1568C>A (p.Ser523Tyr)
NM_000535.7(PMS2):c.1568C>G (p.Ser523Cys) rs1583318261
NM_000535.7(PMS2):c.1568C>T (p.Ser523Phe) rs1583318261
NM_000535.7(PMS2):c.1569C>T (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.156T>C (p.Thr52=) rs2128843815
NM_000535.7(PMS2):c.1571dup (p.Gly525fs) rs1554297534
NM_000535.7(PMS2):c.1572A>G (p.Pro524=) rs1488622375
NM_000535.7(PMS2):c.1573G>A (p.Gly525Arg) rs1265449448
NM_000535.7(PMS2):c.1574G>A (p.Gly525Glu)
NM_000535.7(PMS2):c.1575G>A (p.Gly525=) rs1783045939
NM_000535.7(PMS2):c.1575G>T (p.Gly525=) rs1783045939
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn) rs63750686
NM_000535.7(PMS2):c.1576G>C (p.Asp526His) rs63750686
NM_000535.7(PMS2):c.1576del (p.Asp526fs) rs863224497
NM_000535.7(PMS2):c.1577del (p.Asp526fs)
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.1579A>G (p.Arg527Gly) rs756823316
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs) rs1064793234
NM_000535.7(PMS2):c.1579del (p.Arg527fs) rs1554297523
NM_000535.7(PMS2):c.157A>C (p.Asn53His)
NM_000535.7(PMS2):c.157A>G (p.Asn53Asp) rs1554306309
NM_000535.7(PMS2):c.157A>T (p.Asn53Tyr) rs1554306309
NM_000535.7(PMS2):c.1580G>C (p.Arg527Thr) rs1783042729
NM_000535.7(PMS2):c.1583del (p.Gly528fs) rs1783042060
NM_000535.7(PMS2):c.1584C>T (p.Gly528=) rs1554297515
NM_000535.7(PMS2):c.1587G>T (p.Ser529=) rs786201709
NM_000535.7(PMS2):c.1587dup (p.Gln530fs)
NM_000535.7(PMS2):c.1588C>A (p.Gln530Lys) rs751261543
NM_000535.7(PMS2):c.1588C>G (p.Gln530Glu) rs751261543
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
NM_000535.7(PMS2):c.1589A>G (p.Gln530Arg) rs1783039464
NM_000535.7(PMS2):c.158A>G (p.Asn53Ser) rs1272484713
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup) rs587780043
NM_000535.7(PMS2):c.1594C>T (p.His532Tyr) rs1783037687
NM_000535.7(PMS2):c.1595A>G (p.His532Arg) rs1554297505
NM_000535.7(PMS2):c.1595_1596del (p.His532fs)
NM_000535.7(PMS2):c.1599G>A (p.Val533=)
NM_000535.7(PMS2):c.1600G>T (p.Asp534Tyr) rs1583317784
NM_000535.7(PMS2):c.1604C>A (p.Ser535Tyr)
NM_000535.7(PMS2):c.1604C>T (p.Ser535Phe) rs762579299
NM_000535.7(PMS2):c.1605T>A (p.Ser535=) rs2128726944
NM_000535.7(PMS2):c.1605T>G (p.Ser535=)
NM_000535.7(PMS2):c.1605_1606del (p.Gln536fs) rs2128726933
NM_000535.7(PMS2):c.1606C>G (p.Gln536Glu)
NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter) rs1554297488
NM_000535.7(PMS2):c.1608G>A (p.Gln536=) rs1783033720
NM_000535.7(PMS2):c.160A>G (p.Ile54Val)
NM_000535.7(PMS2):c.1610A>G (p.Glu537Gly)
NM_000535.7(PMS2):c.1613A>G (p.Lys538Arg)
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.1616C>A (p.Ala539Glu)
NM_000535.7(PMS2):c.1617G>A (p.Ala539=) rs776931237
NM_000535.7(PMS2):c.1617G>C (p.Ala539=)
NM_000535.7(PMS2):c.1619C>A (p.Pro540His) rs1562629708
NM_000535.7(PMS2):c.1619C>G (p.Pro540Arg) rs1562629708
NM_000535.7(PMS2):c.161T>C (p.Ile54Thr) rs764565924
NM_000535.7(PMS2):c.1625C>T (p.Thr542Ile)
NM_000535.7(PMS2):c.1628A>G (p.Asp543Gly) rs1060503146
NM_000535.7(PMS2):c.162T>C (p.Ile54=)
NM_000535.7(PMS2):c.162_163insAATT (p.Asp55delinsAsnTer) rs1554306288
NM_000535.7(PMS2):c.163+10G>T
NM_000535.7(PMS2):c.163+12A>G
NM_000535.7(PMS2):c.163+14A>G
NM_000535.7(PMS2):c.163+15G>A
NM_000535.7(PMS2):c.163+19T>A rs1785681524
NM_000535.7(PMS2):c.163+19dup
NM_000535.7(PMS2):c.163+1G>A rs1064795705
NM_000535.7(PMS2):c.163+1G>T rs1064795705
NM_000535.7(PMS2):c.163+2T>C rs587779329
NM_000535.7(PMS2):c.163+5G>C
NM_000535.7(PMS2):c.163+8T>G rs565853848
NM_000535.7(PMS2):c.163+9G>A rs2128843463
NM_000535.7(PMS2):c.163+9G>C rs2128843463
NM_000535.7(PMS2):c.1630G>T (p.Asp544Tyr) rs876660139
NM_000535.7(PMS2):c.1631A>T (p.Asp544Val) rs1562629531
NM_000535.7(PMS2):c.1632C>A (p.Asp544Glu) rs786203439
NM_000535.7(PMS2):c.1632C>G (p.Asp544Glu) rs786203439
NM_000535.7(PMS2):c.1632C>T (p.Asp544=) rs786203439
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.1634_1635del (p.Ser545fs) rs753256070
NM_000535.7(PMS2):c.1636T>A (p.Phe546Ile)
NM_000535.7(PMS2):c.1637T>G (p.Phe546Cys) rs2128726334
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.1639T>C (p.Ser547Pro) rs1554297423
NM_000535.7(PMS2):c.1639dup (p.Ser547fs) rs863224498
NM_000535.7(PMS2):c.164-10A>G
NM_000535.7(PMS2):c.164-11A>C rs763662038
NM_000535.7(PMS2):c.164-1G>C rs763308607
NM_000535.7(PMS2):c.164-1G>T
NM_000535.7(PMS2):c.164-20A>G
NM_000535.7(PMS2):c.164-2A>G rs587779324
NM_000535.7(PMS2):c.164-4C>A rs876658444
NM_000535.7(PMS2):c.164-4C>G rs876658444
NM_000535.7(PMS2):c.164-4C>T
NM_000535.7(PMS2):c.164-518_803+252delinsCG
NM_000535.7(PMS2):c.164-5T>C rs1554305071
NM_000535.7(PMS2):c.164-6T>C rs1060504837
NM_000535.7(PMS2):c.164-8C>T rs2128830941
NM_000535.7(PMS2):c.1641A>C (p.Ser547=) rs773541976
NM_000535.7(PMS2):c.1641A>G (p.Ser547=)
NM_000535.7(PMS2):c.1643A>C (p.Asp548Ala) rs1269515306
NM_000535.7(PMS2):c.1644T>C (p.Asp548=) rs786201630
NM_000535.7(PMS2):c.1645G>A (p.Val549Met) rs1199136734
NM_000535.7(PMS2):c.1646T>C (p.Val549Ala) rs779150753
NM_000535.7(PMS2):c.1646T>G (p.Val549Gly) rs779150753
NM_000535.7(PMS2):c.1647G>A (p.Val549=) rs1554297410
NM_000535.7(PMS2):c.1648G>T (p.Asp550Tyr) rs2128726061
NM_000535.7(PMS2):c.1649A>G (p.Asp550Gly)
NM_000535.7(PMS2):c.164A>T (p.Asp55Val) rs587781846
NM_000535.7(PMS2):c.1651T>C (p.Cys551Arg)
NM_000535.7(PMS2):c.1652G>T (p.Cys551Phe) rs1554297409
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter) rs876659162
NM_000535.7(PMS2):c.1654C>A (p.His552Asn) rs786204114
NM_000535.7(PMS2):c.1654C>G (p.His552Asp) rs786204114
NM_000535.7(PMS2):c.1655A>G (p.His552Arg)
NM_000535.7(PMS2):c.1658C>T (p.Ser553Leu)
NM_000535.7(PMS2):c.1659A>G (p.Ser553=) rs2128725850
NM_000535.7(PMS2):c.1662C>A (p.Asn554Lys)
NM_000535.7(PMS2):c.1663C>A (p.Gln555Lys)
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.1666del (p.Glu556fs)
NM_000535.7(PMS2):c.1667A>G (p.Glu556Gly) rs2128725672
NM_000535.7(PMS2):c.166C>A (p.Leu56Ile) rs371011390
NM_000535.7(PMS2):c.166C>T (p.Leu56=) rs371011390
NM_000535.7(PMS2):c.1670A>G (p.Asp557Gly) rs1562629043
NM_000535.7(PMS2):c.1670A>T (p.Asp557Val) rs1562629043
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.1672A>T (p.Thr558Ser)
NM_000535.7(PMS2):c.1672del (p.Thr558fs) rs1562629003
NM_000535.7(PMS2):c.1673C>T (p.Thr558Ile) rs114037612
NM_000535.7(PMS2):c.1673_1674inv (p.Thr558Arg)
NM_000535.7(PMS2):c.1674C>A (p.Thr558=) rs876658134
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
NM_000535.7(PMS2):c.1677A>T (p.Gly559=) rs2128725481
NM_000535.7(PMS2):c.1679G>A (p.Cys560Tyr) rs757989905
NM_000535.7(PMS2):c.1679G>C (p.Cys560Ser) rs757989905
NM_000535.7(PMS2):c.1681A>G (p.Lys561Glu) rs1583316925
NM_000535.7(PMS2):c.1682A>G (p.Lys561Arg) rs876658481
NM_000535.7(PMS2):c.1684T>C (p.Phe562Leu) rs1583316879
NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu) rs764749700
NM_000535.7(PMS2):c.1687C>G (p.Arg563Gly) rs587778618
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter) rs587778618
NM_000535.7(PMS2):c.1687_1693del (p.Arg563fs) rs1064795345
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln) rs587780725
NM_000535.7(PMS2):c.168A>G (p.Leu56=) rs2128830767
NM_000535.7(PMS2):c.1690G>A (p.Val564Ile)
NM_000535.7(PMS2):c.1693T>G (p.Leu565Val) rs786202870
NM_000535.7(PMS2):c.1694T>A (p.Leu565Ter)
NM_000535.7(PMS2):c.1695G>A (p.Leu565=) rs2128725175
NM_000535.7(PMS2):c.1695G>T (p.Leu565Phe)
NM_000535.7(PMS2):c.1696C>A (p.Pro566Thr)
NM_000535.7(PMS2):c.1698T>C (p.Pro566=) rs2128725104
NM_000535.7(PMS2):c.1699C>T (p.Gln567Ter) rs1554297342
NM_000535.7(PMS2):c.16A>T (p.Ser6Cys) rs1786254768
NM_000535.7(PMS2):c.1700A>G (p.Gln567Arg) rs112104877
NM_000535.7(PMS2):c.1701G>C (p.Gln567His) rs1783006792
NM_000535.7(PMS2):c.1702C>T (p.Pro568Ser) rs786204115
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg) rs869312801
NM_000535.7(PMS2):c.1703C>T (p.Pro568Leu) rs869312801
NM_000535.7(PMS2):c.1705A>C (p.Thr569Pro) rs762151417
NM_000535.7(PMS2):c.1705A>T (p.Thr569Ser)
NM_000535.7(PMS2):c.1707T>A (p.Thr569=) rs2128724949
NM_000535.7(PMS2):c.1707delinsAA (p.Asn570fs)
NM_000535.7(PMS2):c.1708A>C (p.Asn570His) rs115670442
NM_000535.7(PMS2):c.1709A>G (p.Asn570Ser) rs2128724896
NM_000535.7(PMS2):c.1709dup (p.Asn570fs) rs1783004175
NM_000535.7(PMS2):c.170A>C (p.Lys57Thr) rs765474498
NM_000535.7(PMS2):c.1712T>A (p.Leu571His) rs1060503128
NM_000535.7(PMS2):c.1712T>G (p.Leu571Arg) rs1060503128
NM_000535.7(PMS2):c.1714G>T (p.Ala572Ser) rs63751023
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer) rs1060503126
NM_000535.7(PMS2):c.1716A>G (p.Ala572=) rs2128724756
NM_000535.7(PMS2):c.1716_1718delinsCAACTAAAACG (p.Thr573delinsAsnTer)
NM_000535.7(PMS2):c.1717A>G (p.Thr573Ala)
NM_000535.7(PMS2):c.1718C>A (p.Thr573Asn) rs876660076
NM_000535.7(PMS2):c.1719C>A (p.Thr573=) rs2128724704
NM_000535.7(PMS2):c.1719C>G (p.Thr573=)
NM_000535.7(PMS2):c.171G>A (p.Lys57=) rs760031402
NM_000535.7(PMS2):c.1721del (p.Pro574fs) rs1583316404
NM_000535.7(PMS2):c.1721dup (p.Asn575fs)
NM_000535.7(PMS2):c.1723A>C (p.Asn575His)
NM_000535.7(PMS2):c.1726A>T (p.Thr576Ser) rs863224677
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.1730A>T (p.Lys577Met) rs2128724485
NM_000535.7(PMS2):c.1730dup (p.Arg578fs) rs587779330
NM_000535.7(PMS2):c.1731G>A (p.Lys577=) rs1057523469
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.1734T>A (p.Arg578=) rs2128724400
NM_000535.7(PMS2):c.1734T>C (p.Arg578=)
NM_000535.7(PMS2):c.1737del (p.Phe579fs) rs1782994894
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter) rs267608169
NM_000535.7(PMS2):c.1741A>G (p.Lys581Glu) rs63750598
NM_000535.7(PMS2):c.1742A>T (p.Lys581Ile) rs1554297289
NM_000535.7(PMS2):c.1743A>C (p.Lys581Asn)
NM_000535.7(PMS2):c.1743del (p.Glu582fs) rs1057517801
NM_000535.7(PMS2):c.1744G>A (p.Glu582Lys) rs63750739
NM_000535.7(PMS2):c.1744_1745del (p.Glu582fs) rs1782992250
NM_000535.7(PMS2):c.1745A>G (p.Glu582Gly)
NM_000535.7(PMS2):c.1746del (p.Glu583fs) rs1554297285
NM_000535.7(PMS2):c.1748A>T (p.Glu583Val) rs1562627848
NM_000535.7(PMS2):c.1750A>G (p.Ile584Val) rs1782990154
NM_000535.7(PMS2):c.1750del (p.Ile584fs) rs864622600
NM_000535.7(PMS2):c.1750dup (p.Ile584fs) rs864622600
NM_000535.7(PMS2):c.1753C>G (p.Leu585Val)
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.1756del (p.Ser586fs)
NM_000535.7(PMS2):c.1757C>G (p.Ser586Cys) rs1335723102
NM_000535.7(PMS2):c.1758C>T (p.Ser586=) rs1380096472
NM_000535.7(PMS2):c.1759A>C (p.Ser587Arg) rs1554297277
NM_000535.7(PMS2):c.1759A>G (p.Ser587Gly) rs1554297277
NM_000535.7(PMS2):c.175A>G (p.Lys59Glu) rs2128830628
NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile) rs762100304
NM_000535.7(PMS2):c.1762T>G (p.Ser588Ala)
NM_000535.7(PMS2):c.1763C>G (p.Ser588Cys) rs2128723884
NM_000535.7(PMS2):c.1767C>T (p.Asp589=) rs1338436845
NM_000535.7(PMS2):c.1768A>G (p.Ile590Val) rs63750476
NM_000535.7(PMS2):c.1768del (p.Ile590fs) rs63750477
NM_000535.7(PMS2):c.176A>T (p.Lys59Met) rs2128830591
NM_000535.7(PMS2):c.176del (p.Lys59fs) rs1785429311
NM_000535.7(PMS2):c.176dup (p.Asp60fs)
NM_000535.7(PMS2):c.1770T>A (p.Ile590=)
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.1772_1773delinsTG (p.Cys591Leu)
NM_000535.7(PMS2):c.1774C>A (p.Gln592Lys) rs63750994
NM_000535.7(PMS2):c.1774C>G (p.Gln592Glu) rs63750994
NM_000535.7(PMS2):c.1774C>T (p.Gln592Ter)
NM_000535.7(PMS2):c.1775A>G (p.Gln592Arg)
NM_000535.7(PMS2):c.1776A>G (p.Gln592=) rs1583315676
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>A (p.Val595Ile)
NM_000535.7(PMS2):c.1783G>C (p.Val595Leu) rs1171070752
NM_000535.7(PMS2):c.1783G>T (p.Val595Leu)
NM_000535.7(PMS2):c.1784T>C (p.Val595Ala) rs1554297236
NM_000535.7(PMS2):c.1784_1804del (p.Val595_Ser601del) rs1782974131
NM_000535.7(PMS2):c.1785A>G (p.Val595=) rs2128723511
NM_000535.7(PMS2):c.1786A>C (p.Asn596His)
NM_000535.7(PMS2):c.1786A>G (p.Asn596Asp) rs1583315513
NM_000535.7(PMS2):c.1789A>C (p.Thr597Pro) rs1805318
NM_000535.7(PMS2):c.1789A>G (p.Thr597Ala) rs1805318
NM_000535.7(PMS2):c.1789del (p.Thr597fs)
NM_000535.7(PMS2):c.178G>T (p.Asp60Tyr) rs587782176
NM_000535.7(PMS2):c.1790C>G (p.Thr597Ser) rs878854038
NM_000535.7(PMS2):c.1791T>G (p.Thr597=) rs63750278
NM_000535.7(PMS2):c.1792C>T (p.Gln598Ter) rs1782978316
NM_000535.7(PMS2):c.1795G>A (p.Asp599Asn) rs1380574195
NM_000535.7(PMS2):c.1795G>C (p.Asp599His)
NM_000535.7(PMS2):c.1796A>G (p.Asp599Gly) rs878854039
NM_000535.7(PMS2):c.1796A>T (p.Asp599Val) rs878854039
NM_000535.7(PMS2):c.1797C>G (p.Asp599Glu) rs1261280629
NM_000535.7(PMS2):c.1798A>T (p.Met600Leu) rs1304634005
NM_000535.7(PMS2):c.1799T>C (p.Met600Thr)
NM_000535.7(PMS2):c.179A>G (p.Asp60Gly) rs771348650
NM_000535.7(PMS2):c.17G>A (p.Ser6Asn) rs587781112
NM_000535.7(PMS2):c.17G>C (p.Ser6Thr) rs587781112
NM_000535.7(PMS2):c.17G>T (p.Ser6Ile) rs587781112
NM_000535.7(PMS2):c.1800G>A (p.Met600Ile) rs63750260
NM_000535.7(PMS2):c.1800del (p.Met600fs)
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter) rs63750456
NM_000535.7(PMS2):c.1802C>T (p.Ser601Leu)
NM_000535.7(PMS2):c.1803A>G (p.Ser601=) rs864622203
NM_000535.7(PMS2):c.1806C>A (p.Ala602=) rs376046767
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.1809T>C (p.Ser603=)
NM_000535.7(PMS2):c.180del (p.Tyr61fs)
NM_000535.7(PMS2):c.1810C>G (p.Gln604Glu) rs1064793426
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter) rs1064793426
NM_000535.7(PMS2):c.1811A>G (p.Gln604Arg) rs2128723018
NM_000535.7(PMS2):c.1812G>A (p.Gln604=) rs63750788
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.1813G>C (p.Val605Leu)
NM_000535.7(PMS2):c.1815del (p.Asp606fs)
NM_000535.7(PMS2):c.1819G>T (p.Val607Leu) rs786204109
NM_000535.7(PMS2):c.1820T>A (p.Val607Glu)
NM_000535.7(PMS2):c.1820T>C (p.Val607Ala)
NM_000535.7(PMS2):c.1821A>G (p.Val607=) rs1554297205
NM_000535.7(PMS2):c.1823C>T (p.Ala608Val) rs1562627020
NM_000535.7(PMS2):c.1825G>A (p.Val609Met)
NM_000535.7(PMS2):c.1826T>C (p.Val609Ala) rs1583315021
NM_000535.7(PMS2):c.1826_1827del (p.Val609fs)
NM_000535.7(PMS2):c.1827G>A (p.Val609=) rs746940466
NM_000535.7(PMS2):c.1828A>C (p.Lys610Gln) rs199700509
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.1833T>G (p.Ile611Met) rs1554297188
NM_000535.7(PMS2):c.1833TAA[1] (p.Asn612del) rs1583314881
NM_000535.7(PMS2):c.1834A>G (p.Asn612Asp) rs1782966310
NM_000535.7(PMS2):c.1838A>C (p.Lys613Thr)
NM_000535.7(PMS2):c.1838A>T (p.Lys613Met) rs2128722605
NM_000535.7(PMS2):c.1840A>G (p.Lys614Glu)
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.1842A>G (p.Lys614=) rs2128722527
NM_000535.7(PMS2):c.1842A>T (p.Lys614Asn)
NM_000535.7(PMS2):c.1842dup (p.Val615fs) rs1782962828
NM_000535.7(PMS2):c.1843G>A (p.Val615Ile) rs1782962260
NM_000535.7(PMS2):c.1843G>T (p.Val615Phe)
NM_000535.7(PMS2):c.1844T>C (p.Val615Ala) rs1060503112
NM_000535.7(PMS2):c.1845del (p.Val616fs)
NM_000535.7(PMS2):c.1846G>T (p.Val616Leu) rs1782961561
NM_000535.7(PMS2):c.1847T>A (p.Val616Glu)
NM_000535.7(PMS2):c.1847T>C (p.Val616Ala) rs1583314800
NM_000535.7(PMS2):c.1847T>G (p.Val616Gly)
NM_000535.7(PMS2):c.1848G>A (p.Val616=) rs1041715800
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.1850C>G (p.Pro617Arg) rs747785888
NM_000535.7(PMS2):c.1851C>T (p.Pro617=) rs1554297171
NM_000535.7(PMS2):c.1853T>C (p.Leu618Pro) rs63751253
NM_000535.7(PMS2):c.1853del (p.Leu618fs)
NM_000535.7(PMS2):c.1854G>C (p.Leu618=) rs876660784
NM_000535.7(PMS2):c.1855G>A (p.Asp619Asn) rs1179605136
NM_000535.7(PMS2):c.1855del (p.Asp619fs) rs1782958183
NM_000535.7(PMS2):c.1857C>A (p.Asp619Glu) rs876661271
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs) rs756358866
NM_000535.7(PMS2):c.1860T>C (p.Phe620=) rs1583314594
NM_000535.7(PMS2):c.1862C>G (p.Ser621Cys) rs1583314570
NM_000535.7(PMS2):c.1863T>G (p.Ser621=)
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.1868G>A (p.Ser623Asn) rs1562626526
NM_000535.7(PMS2):c.1869T>C (p.Ser623=) rs1583314396
NM_000535.7(PMS2):c.186A>G (p.Gly62=)
NM_000535.7(PMS2):c.1870T>G (p.Ser624Ala) rs63750980
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.1875A>G (p.Leu625=)
NM_000535.7(PMS2):c.1876G>C (p.Ala626Pro) rs587779331
NM_000535.7(PMS2):c.1876G>T (p.Ala626Ser) rs587779331
NM_000535.7(PMS2):c.1876_1880del (p.Ala626fs)
NM_000535.7(PMS2):c.1877C>A (p.Ala626Asp) rs786203121
NM_000535.7(PMS2):c.1879A>G (p.Lys627Glu) rs2128721900
NM_000535.7(PMS2):c.187_192del (p.Val63_Asp64del)
NM_000535.7(PMS2):c.1883G>C (p.Arg628Pro)
NM_000535.7(PMS2):c.1885A>G (p.Ile629Val) rs63751209
NM_000535.7(PMS2):c.1885del (p.Arg628_Ile629insTer) rs1782949480
NM_000535.7(PMS2):c.1886T>C (p.Ile629Thr) rs1782948843
NM_000535.7(PMS2):c.1887A>G (p.Ile629Met) rs1583314135
NM_000535.7(PMS2):c.1890G>C (p.Lys630Asn) rs1782948207
NM_000535.7(PMS2):c.1890G>T (p.Lys630Asn)
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter) rs1060503138
NM_000535.7(PMS2):c.1892_1902delinsTAAA (p.Gln631fs) rs1562626204
NM_000535.7(PMS2):c.1893G>A (p.Gln631=) rs1057524687
NM_000535.7(PMS2):c.1895T>C (p.Leu632Ser) rs2128721689
NM_000535.7(PMS2):c.1895T>G (p.Leu632Ter)
NM_000535.7(PMS2):c.1897C>T (p.His633Tyr) rs1583314065
NM_000535.7(PMS2):c.1897del (p.His633fs) rs1782947222
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.18C>T (p.Ser6=)
NM_000535.7(PMS2):c.1900C>A (p.His634Asn)
NM_000535.7(PMS2):c.1901A>T (p.His634Leu) rs767904893
NM_000535.7(PMS2):c.1902T>C (p.His634=) rs376335675
NM_000535.7(PMS2):c.1903G>A (p.Glu635Lys) rs878854040
NM_000535.7(PMS2):c.1906G>A (p.Ala636Thr) rs876658863
NM_000535.7(PMS2):c.1908A>G (p.Ala636=) rs1583313911
NM_000535.7(PMS2):c.1908del (p.Gln637fs) rs1562626121
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter) rs1554297125
NM_000535.7(PMS2):c.1909_1913del (p.Gln637fs) rs1562626011
NM_000535.7(PMS2):c.190G>T (p.Asp64Tyr)
NM_000535.7(PMS2):c.1910A>C (p.Gln637Pro)
NM_000535.7(PMS2):c.1911G>A (p.Gln637=)
NM_000535.7(PMS2):c.1911_1912delinsAT (p.Gln638Ter) rs1782941753
NM_000535.7(PMS2):c.1912C>T (p.Gln638Ter) rs764342199
NM_000535.7(PMS2):c.1912del (p.Gln638fs) rs1562626070
NM_000535.7(PMS2):c.1914A>C (p.Gln638His) rs1583313823
NM_000535.7(PMS2):c.1915del (p.Ser639fs)
NM_000535.7(PMS2):c.1916G>A (p.Ser639Asn) rs876659769
NM_000535.7(PMS2):c.1916G>C (p.Ser639Thr)
NM_000535.7(PMS2):c.1917T>C (p.Ser639=)
NM_000535.7(PMS2):c.1919A>G (p.Glu640Gly) rs1782938849
NM_000535.7(PMS2):c.191A>G (p.Asp64Gly) rs786203019
NM_000535.7(PMS2):c.1920A>G (p.Glu640=) rs1060503113
NM_000535.7(PMS2):c.1922G>T (p.Gly641Val) rs1554297114
NM_000535.7(PMS2):c.1923G>C (p.Gly641=) rs763278245
NM_000535.7(PMS2):c.1923G>T (p.Gly641=)
NM_000535.7(PMS2):c.1924G>A (p.Glu642Lys) rs752772040
NM_000535.7(PMS2):c.1924del (p.Glu642fs) rs2128721171
NM_000535.7(PMS2):c.1927C>G (p.Gln643Glu) rs63751422
NM_000535.7(PMS2):c.1929_1930del (p.Asn644fs) rs1782935566
NM_000535.7(PMS2):c.1930_1937del (p.Asn644fs)
NM_000535.7(PMS2):c.1932T>C (p.Asn644=)
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.1936A>T (p.Arg646Trp) rs369582237
NM_000535.7(PMS2):c.1936del (p.Arg646fs) rs1782934080
NM_000535.7(PMS2):c.1937G>C (p.Arg646Thr) rs372341850
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>A (p.Leu65Ile) rs1562695468
NM_000535.7(PMS2):c.193C>G (p.Leu65Val) rs1562695468
NM_000535.7(PMS2):c.1940A>G (p.Lys647Arg) rs1554297100
NM_000535.7(PMS2):c.1941G>C (p.Lys647Asn) rs2128720886
NM_000535.7(PMS2):c.1942T>G (p.Phe648Val) rs1782931972
NM_000535.7(PMS2):c.1944T>G (p.Phe648Leu) rs144011908
NM_000535.7(PMS2):c.1947G>A (p.Arg649=)
NM_000535.7(PMS2):c.1948G>A (p.Ala650Thr) rs1782930647
NM_000535.7(PMS2):c.1948G>C (p.Ala650Pro) rs1782930647
NM_000535.7(PMS2):c.1948G>T (p.Ala650Ser)
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.1950A>G (p.Ala650=) rs2128720740
NM_000535.7(PMS2):c.1953G>A (p.Lys651=) rs1488971334
NM_000535.7(PMS2):c.1955T>A (p.Ile652Asn) rs1554297091
NM_000535.7(PMS2):c.1956T>A (p.Ile652=) rs267608168
NM_000535.7(PMS2):c.1956T>C (p.Ile652=) rs267608168
NM_000535.7(PMS2):c.1957T>G (p.Cys653Gly) rs267608162
NM_000535.7(PMS2):c.1958G>C (p.Cys653Ser) rs1782927665
NM_000535.7(PMS2):c.1958G>T (p.Cys653Phe) rs1782927665
NM_000535.7(PMS2):c.1959T>A (p.Cys653Ter) rs1554297082
NM_000535.7(PMS2):c.195T>C (p.Leu65=) rs780080040
NM_000535.7(PMS2):c.1960C>A (p.Pro654Thr)
NM_000535.7(PMS2):c.1960C>G (p.Pro654Ala)
NM_000535.7(PMS2):c.1960C>T (p.Pro654Ser)
NM_000535.7(PMS2):c.1960_1961delinsTA (p.Pro654Tyr) rs1782926608
NM_000535.7(PMS2):c.1961C>T (p.Pro654Leu) rs779587825
NM_000535.7(PMS2):c.1966G>A (p.Glu656Lys) rs876658931
NM_000535.7(PMS2):c.196A>T (p.Ile66Phe) rs1785423536
NM_000535.7(PMS2):c.1970del (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1970dup (p.Asn657fs) rs1064794566
NM_000535.7(PMS2):c.1972C>G (p.Gln658Glu) rs1172837844
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.1977A>G (p.Ala659=) rs1057522418
NM_000535.7(PMS2):c.1978G>A (p.Ala660Thr)
NM_000535.7(PMS2):c.1978G>C (p.Ala660Pro)
NM_000535.7(PMS2):c.1981G>C (p.Glu661Gln)
NM_000535.7(PMS2):c.1981G>T (p.Glu661Ter) rs778531080
NM_000535.7(PMS2):c.1984G>A (p.Asp662Asn) rs1562625087
NM_000535.7(PMS2):c.1985A>T (p.Asp662Val) rs1320079782
NM_000535.7(PMS2):c.1987G>A (p.Glu663Lys) rs1554297061
NM_000535.7(PMS2):c.1987G>T (p.Glu663Ter) rs1554297061
NM_000535.7(PMS2):c.1989A>C (p.Glu663Asp) rs1562625015
NM_000535.7(PMS2):c.198T>C (p.Ile66=) rs1554305014
NM_000535.7(PMS2):c.198_213del (p.Ile66fs) rs1785420264
NM_000535.7(PMS2):c.1990C>G (p.Leu664Val)
NM_000535.7(PMS2):c.1990C>T (p.Leu664=)
NM_000535.7(PMS2):c.1992A>C (p.Leu664=)
NM_000535.7(PMS2):c.1997A>G (p.Lys666Arg)
NM_000535.7(PMS2):c.1998A>T (p.Lys666Asn)
NM_000535.7(PMS2):c.1999G>C (p.Glu667Gln) rs587780045
NM_000535.7(PMS2):c.19T>C (p.Ser7Pro) rs1064793232
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.2001G>A (p.Glu667=) rs1562624926
NM_000535.7(PMS2):c.2001G>C (p.Glu667Asp) rs1562624926
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.2003T>G (p.Ile668Arg) rs1562624877
NM_000535.7(PMS2):c.2004A>G (p.Ile668Met) rs1583312840
NM_000535.7(PMS2):c.2005A>C (p.Ser669Arg) rs1554297049
NM_000535.7(PMS2):c.2005A>T (p.Ser669Cys) rs1554297049
NM_000535.7(PMS2):c.2006+18dup
NM_000535.7(PMS2):c.2006+19A>G rs2128719619
NM_000535.7(PMS2):c.2006+1G>A rs1554297040
NM_000535.7(PMS2):c.2006+1G>C rs1554297040
NM_000535.7(PMS2):c.2006+20C>G rs1554297036
NM_000535.7(PMS2):c.2006+20C>T
NM_000535.7(PMS2):c.2006+3A>G rs1064793866
NM_000535.7(PMS2):c.2006+5del rs1782913891
NM_000535.7(PMS2):c.2006+9T>G
NM_000535.7(PMS2):c.2006G>A (p.Ser669Asn)
NM_000535.7(PMS2):c.2006G>C (p.Ser669Thr) rs1417552718
NM_000535.7(PMS2):c.2006_2006+4del rs771928911
NM_000535.7(PMS2):c.2007-11_2007-7delinsCCTAT
NM_000535.7(PMS2):c.2007-11del
NM_000535.7(PMS2):c.2007-11dup rs1554295996
NM_000535.7(PMS2):c.2007-12T>C
NM_000535.7(PMS2):c.2007-16C>T rs587781111
NM_000535.7(PMS2):c.2007-17A>T
NM_000535.7(PMS2):c.2007-18A>G
NM_000535.7(PMS2):c.2007-18A>T
NM_000535.7(PMS2):c.2007-19del rs2128705199
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.2007-20_2007-17del
NM_000535.7(PMS2):c.2007-2A>G rs587782336
NM_000535.7(PMS2):c.2007-2_2007-1delinsCA rs1782473185
NM_000535.7(PMS2):c.2007-4_2007-1delinsACAC rs1562616355
NM_000535.7(PMS2):c.2007-5T>C rs1583299974
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000535.7(PMS2):c.2007-6C>T rs376018314
NM_000535.7(PMS2):c.2007-7_2007-3delinsTCTGT rs1782474044
NM_000535.7(PMS2):c.2007-8A>G rs1583300037
NM_000535.7(PMS2):c.2007-8_2007-7inv
NM_000535.7(PMS2):c.2007-9T>A
NM_000535.7(PMS2):c.2007-9T>G rs1194759833
NM_000535.7(PMS2):c.2007dup (p.Lys670Ter)
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.2012C>G (p.Thr671Arg) rs587780046
NM_000535.7(PMS2):c.2013G>C (p.Thr671=)
NM_000535.7(PMS2):c.2013G>T (p.Thr671=) rs771513870
NM_000535.7(PMS2):c.2015T>C (p.Met672Thr) rs1554295972
NM_000535.7(PMS2):c.2016G>A (p.Met672Ile) rs2128704802
NM_000535.7(PMS2):c.2016del (p.Met672fs) rs1554295967
NM_000535.7(PMS2):c.2017T>C (p.Phe673Leu) rs1562616167
NM_000535.7(PMS2):c.201A>G (p.Glu67=) rs2128830152
NM_000535.7(PMS2):c.2022A>C (p.Ala674=) rs2128704690
NM_000535.7(PMS2):c.2023G>T (p.Glu675Ter) rs1583299686
NM_000535.7(PMS2):c.2025A>C (p.Glu675Asp) rs1057522947
NM_000535.7(PMS2):c.2025A>G (p.Glu675=) rs1057522947
NM_000535.7(PMS2):c.2025A>T (p.Glu675Asp) rs1057522947
NM_000535.7(PMS2):c.2026A>G (p.Met676Val) rs1554295955
NM_000535.7(PMS2):c.2028_2033del (p.Met676_Glu677del)
NM_000535.7(PMS2):c.2031A>C (p.Glu677Asp) rs1782467652
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu) rs878854041
NM_000535.7(PMS2):c.2032del (p.Ile678fs)
NM_000535.7(PMS2):c.2037T>C (p.Ile679=)
NM_000535.7(PMS2):c.2037T>G (p.Ile679Met) rs63751026
NM_000535.7(PMS2):c.2039G>A (p.Gly680Asp)
NM_000535.7(PMS2):c.2039del (p.Gly680fs)
NM_000535.7(PMS2):c.203T>G (p.Val68Gly)
NM_000535.7(PMS2):c.203_208del (p.Val68_Ser69del) rs864622506
NM_000535.7(PMS2):c.2041C>A (p.Gln681Lys)
NM_000535.7(PMS2):c.2041C>T (p.Gln681Ter) rs1782465728
NM_000535.7(PMS2):c.2042A>G (p.Gln681Arg) rs1782465326
NM_000535.7(PMS2):c.2042A>T (p.Gln681Leu) rs1782465326
NM_000535.7(PMS2):c.2043G>A (p.Gln681=) rs876658953
NM_000535.7(PMS2):c.2043G>C (p.Gln681His)
NM_000535.7(PMS2):c.2043G>T (p.Gln681His) rs876658953
NM_000535.7(PMS2):c.2047A>T (p.Asn683Tyr) rs786202668
NM_000535.7(PMS2):c.2049C>G (p.Asn683Lys) rs752950007
NM_000535.7(PMS2):c.2050del (p.Leu684fs)
NM_000535.7(PMS2):c.2053G>A (p.Gly685Arg) rs1583299418
NM_000535.7(PMS2):c.2054G>A (p.Gly685Glu) rs1554295923
NM_000535.7(PMS2):c.2057T>A (p.Phe686Tyr)
NM_000535.7(PMS2):c.2057T>C (p.Phe686Ser) rs2128704084
NM_000535.7(PMS2):c.2058T>C (p.Phe686=) rs2128704052
NM_000535.7(PMS2):c.205del (p.Ser69fs) rs2128830113
NM_000535.7(PMS2):c.2061A>G (p.Ile687Met) rs1782461393
NM_000535.7(PMS2):c.2062A>T (p.Ile688Leu) rs1060503144
NM_000535.7(PMS2):c.2065A>T (p.Thr689Ser)
NM_000535.7(PMS2):c.2066C>T (p.Thr689Ile) rs1254554953
NM_000535.7(PMS2):c.2067C>A (p.Thr689=) rs1583299269
NM_000535.7(PMS2):c.2067C>T (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.206C>T (p.Ser69Leu) rs730881914
NM_000535.7(PMS2):c.2070A>G (p.Lys690=) rs786201749
NM_000535.7(PMS2):c.2072T>C (p.Leu691Pro) rs1230422041
NM_000535.7(PMS2):c.2075A>G (p.Asn692Ser) rs1562615666
NM_000535.7(PMS2):c.2076T>C (p.Asn692=) rs1554295887
NM_000535.7(PMS2):c.2079G>A (p.Glu693=) rs1583299143
NM_000535.7(PMS2):c.207A>G (p.Ser69=) rs1583410659
NM_000535.7(PMS2):c.2080G>C (p.Asp694His) rs766478637
NM_000535.7(PMS2):c.2081A>G (p.Asp694Gly) rs1554295876
NM_000535.7(PMS2):c.2082T>C (p.Asp694=) rs2128703697
NM_000535.7(PMS2):c.2083A>C (p.Ile695Leu) rs1313824270
NM_000535.7(PMS2):c.2083A>G (p.Ile695Val)
NM_000535.7(PMS2):c.2085C>G (p.Ile695Met) rs757157176
NM_000535.7(PMS2):c.2085C>T (p.Ile695=) rs757157176
NM_000535.7(PMS2):c.2089A>C (p.Ile697Leu) rs1554295859
NM_000535.7(PMS2):c.2089A>G (p.Ile697Val) rs1554295859
NM_000535.7(PMS2):c.208G>C (p.Asp70His)
NM_000535.7(PMS2):c.2090T>C (p.Ile697Thr) rs1583299036
NM_000535.7(PMS2):c.2091A>G (p.Ile697Met) rs1554295855
NM_000535.7(PMS2):c.2094G>T (p.Val698=) rs1583298969
NM_000535.7(PMS2):c.2095G>A (p.Asp699Asn) rs587781317
NM_000535.7(PMS2):c.2095G>C (p.Asp699His) rs587781317
NM_000535.7(PMS2):c.2095G>T (p.Asp699Tyr)
NM_000535.7(PMS2):c.2096A>G (p.Asp699Gly) rs878854043
NM_000535.7(PMS2):c.2097C>G (p.Asp699Glu) rs1064793501
NM_000535.7(PMS2):c.2097C>T (p.Asp699=) rs1064793501
NM_000535.7(PMS2):c.2098C>T (p.Gln700Ter)
NM_000535.7(PMS2):c.209A>G (p.Asp70Gly) rs1554305000
NM_000535.7(PMS2):c.20C>A (p.Ser7Ter)
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.2101C>T (p.His701Tyr) rs763866879
NM_000535.7(PMS2):c.2102A>C (p.His701Pro) rs1583298873
NM_000535.7(PMS2):c.2102A>G (p.His701Arg) rs1583298873
NM_000535.7(PMS2):c.2103T>C (p.His701=) rs1554295826
NM_000535.7(PMS2):c.2104G>A (p.Ala702Thr) rs1554295821
NM_000535.7(PMS2):c.2104G>T (p.Ala702Ser) rs1554295821
NM_000535.7(PMS2):c.2106C>A (p.Ala702=) rs786202273
NM_000535.7(PMS2):c.2109G>C (p.Thr703=) rs775355718
NM_000535.7(PMS2):c.2109G>T (p.Thr703=)
NM_000535.7(PMS2):c.210C>G (p.Asp70Glu) rs1554304997
NM_000535.7(PMS2):c.210C>T (p.Asp70=)
NM_000535.7(PMS2):c.2110G>A (p.Asp704Asn)
NM_000535.7(PMS2):c.2110G>T (p.Asp704Tyr)
NM_000535.7(PMS2):c.2111A>G (p.Asp704Gly)
NM_000535.7(PMS2):c.2115G>A (p.Glu705=) rs1562615196
NM_000535.7(PMS2):c.2115G>C (p.Glu705Asp) rs1562615196
NM_000535.7(PMS2):c.2117_2131del (p.Lys706_Glu710del)
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.2118G>A (p.Lys706=) rs776238286
NM_000535.7(PMS2):c.2118G>C (p.Lys706Asn) rs776238286
NM_000535.7(PMS2):c.2118_2120dup (p.Tyr707Ter)
NM_000535.7(PMS2):c.2119T>C (p.Tyr707His) rs1583298644
NM_000535.7(PMS2):c.211A>G (p.Asn71Asp)
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
NM_000535.7(PMS2):c.2120A>G (p.Tyr707Cys) rs1554295795
NM_000535.7(PMS2):c.2121T>C (p.Tyr707=) rs1562615123
NM_000535.7(PMS2):c.2123del (p.Asn708fs) rs781078805
NM_000535.7(PMS2):c.2124C>T (p.Asn708=) rs2128703022
NM_000535.7(PMS2):c.2127C>A (p.Phe709Leu)
NM_000535.7(PMS2):c.2127C>G (p.Phe709Leu) rs199943748
NM_000535.7(PMS2):c.2128_2142delinsTCGTATA (p.Glu710fs) rs1562614946
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser) rs587780049
NM_000535.7(PMS2):c.212A>T (p.Asn71Ile) rs587780049
NM_000535.7(PMS2):c.2131A>G (p.Met711Val)
NM_000535.7(PMS2):c.2133G>A (p.Met711Ile) rs2128702895
NM_000535.7(PMS2):c.2134C>T (p.Leu712=) rs1583298448
NM_000535.7(PMS2):c.2135T>C (p.Leu712Pro) rs2128702863
NM_000535.7(PMS2):c.2136G>C (p.Leu712=) rs1554295780
NM_000535.7(PMS2):c.2137C>A (p.Gln713Lys) rs876659900
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter) rs876659900
NM_000535.7(PMS2):c.2139G>C (p.Gln713His)
NM_000535.7(PMS2):c.213T>C (p.Asn71=) rs1554304994
NM_000535.7(PMS2):c.2140C>G (p.Gln714Glu)
NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter) rs1057524433
NM_000535.7(PMS2):c.2141A>T (p.Gln714Leu) rs1160860634
NM_000535.7(PMS2):c.2143C>T (p.His715Tyr) rs747494931
NM_000535.7(PMS2):c.2144A>C (p.His715Pro) rs773913260
NM_000535.7(PMS2):c.2144A>G (p.His715Arg) rs773913260
NM_000535.7(PMS2):c.2145C>T (p.His715=) rs2128702678
NM_000535.7(PMS2):c.2146A>G (p.Thr716Ala) rs772637411
NM_000535.7(PMS2):c.2148C>G (p.Thr716=) rs748404138
NM_000535.7(PMS2):c.2148del (p.Val717fs)
NM_000535.7(PMS2):c.2149G>C (p.Val717Leu)
NM_000535.7(PMS2):c.214G>T (p.Gly72Ter)
NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs) rs1785419483
NM_000535.7(PMS2):c.2151G>A (p.Val717=) rs1583298278
NM_000535.7(PMS2):c.2151G>T (p.Val717=) rs1583298278
NM_000535.7(PMS2):c.2153T>C (p.Leu718Pro) rs755117943
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg) rs587782559
NM_000535.7(PMS2):c.2156del (p.Gln719fs) rs786201062
NM_000535.7(PMS2):c.2159G>A (p.Gly720Glu) rs2128702406
NM_000535.7(PMS2):c.215G>T (p.Gly72Val) rs730881915
NM_000535.7(PMS2):c.2160G>A (p.Gly720=) rs546441038
NM_000535.7(PMS2):c.2160G>T (p.Gly720=)
NM_000535.7(PMS2):c.2160del (p.Gln721fs)
NM_000535.7(PMS2):c.2161C>T (p.Gln721Ter)
NM_000535.7(PMS2):c.2166G>A (p.Arg722=) rs863224367
NM_000535.7(PMS2):c.2167C>G (p.Leu723Val) rs1456057054
NM_000535.7(PMS2):c.2168T>C (p.Leu723Pro) rs1246922900
NM_000535.7(PMS2):c.2169C>A (p.Leu723=)
NM_000535.7(PMS2):c.2169C>T (p.Leu723=) rs1782434028
NM_000535.7(PMS2):c.216A>G (p.Gly72=) rs568370805
NM_000535.7(PMS2):c.2171T>C (p.Ile724Thr) rs1060503123
NM_000535.7(PMS2):c.2172A>G (p.Ile724Met) rs1562614497
NM_000535.7(PMS2):c.2173G>A (p.Ala725Thr) rs1303835934
NM_000535.7(PMS2):c.2173G>C (p.Ala725Pro) rs1303835934
NM_000535.7(PMS2):c.2174+10T>G
NM_000535.7(PMS2):c.2174+13A>G
NM_000535.7(PMS2):c.2174+14G>A rs2128701987
NM_000535.7(PMS2):c.2174+19C>T rs1164283904
NM_000535.7(PMS2):c.2174+1G>C rs267608172
NM_000535.7(PMS2):c.2174+1G>T
NM_000535.7(PMS2):c.2174+20A>G
NM_000535.7(PMS2):c.2174+3G>C rs1400193171
NM_000535.7(PMS2):c.2174+5GT[2] rs2128702022
NM_000535.7(PMS2):c.2174+6T>A rs587780050
NM_000535.7(PMS2):c.2174+8T>G rs1583297956
NM_000535.7(PMS2):c.2174+9G>T rs1782431297
NM_000535.7(PMS2):c.2174C>A (p.Ala725Glu) rs150630090
NM_000535.7(PMS2):c.2175-1024A>G
NM_000535.7(PMS2):c.2175-10del
NM_000535.7(PMS2):c.2175-11G>A
NM_000535.7(PMS2):c.2175-11G>C
NM_000535.7(PMS2):c.2175-11G>T rs538914402
NM_000535.7(PMS2):c.2175-11_2175-8del rs771476654
NM_000535.7(PMS2):c.2175-14T>C
NM_000535.7(PMS2):c.2175-14T>G
NM_000535.7(PMS2):c.2175-17A>G
NM_000535.7(PMS2):c.2175-18C>A
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.2175-3C>T rs1326163718
NM_000535.7(PMS2):c.2175-4del rs1781995910
NM_000535.7(PMS2):c.2175-5T>C rs1583286414
NM_000535.7(PMS2):c.2175-8T>A rs774550382
NM_000535.7(PMS2):c.2175-9_2175-8del
NM_000535.7(PMS2):c.2175A>T (p.Ala725=) rs769116749
NM_000535.7(PMS2):c.2176C>T (p.Pro726Ser) rs1407555810
NM_000535.7(PMS2):c.2178T>G (p.Pro726=)
NM_000535.7(PMS2):c.2179C>T (p.Gln727Ter) rs786202202
NM_000535.7(PMS2):c.2181G>A (p.Gln727=) rs1583286283
NM_000535.7(PMS2):c.2181G>C (p.Gln727His)
NM_000535.7(PMS2):c.2183C>T (p.Thr728Ile) rs1781992282
NM_000535.7(PMS2):c.2184T>C (p.Thr728=)
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.2190C>G (p.Asn730Lys)
NM_000535.7(PMS2):c.2190C>T (p.Asn730=) rs756337875
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.2193A>G (p.Leu731=) rs2128683721
NM_000535.7(PMS2):c.2193_2217delinsT (p.Leu731_Leu739delinsPhe) rs1583285870
NM_000535.7(PMS2):c.2194A>G (p.Thr732Ala) rs587781958
NM_000535.7(PMS2):c.2198C>T (p.Ala733Val)
NM_000535.7(PMS2):c.219_220dup (p.Gly74fs) rs587779336
NM_000535.7(PMS2):c.21G>A (p.Ser7=) rs587780726
NM_000535.7(PMS2):c.21G>C (p.Ser7=) rs587780726
NM_000535.7(PMS2):c.2200G>A (p.Val734Ile) rs1467072152
NM_000535.7(PMS2):c.2200G>C (p.Val734Leu)
NM_000535.7(PMS2):c.2203A>G (p.Asn735Asp) rs1554294476
NM_000535.7(PMS2):c.2207A>T (p.Glu736Val) rs1060503115
NM_000535.7(PMS2):c.2208del (p.Ala737fs) rs2128683310
NM_000535.7(PMS2):c.2209G>A (p.Ala737Thr) rs1583285937
NM_000535.7(PMS2):c.220G>A (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.220G>C (p.Gly74Arg) rs1554304979
NM_000535.7(PMS2):c.2210C>A (p.Ala737Asp) rs2128683245
NM_000535.7(PMS2):c.2211T>C (p.Ala737=) rs2128683220
NM_000535.7(PMS2):c.2211T>G (p.Ala737=)
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe) rs758225108
NM_000535.7(PMS2):c.2212_2213del (p.Val738fs)
NM_000535.7(PMS2):c.2213T>C (p.Val738Ala) rs1583285889
NM_000535.7(PMS2):c.2215C>T (p.Leu739=)
NM_000535.7(PMS2):c.2217G>C (p.Leu739=) rs752718686
NM_000535.7(PMS2):c.2219T>G (p.Ile740Arg)
NM_000535.7(PMS2):c.221G>A (p.Gly74Glu)
NM_000535.7(PMS2):c.221G>T (p.Gly74Val)
NM_000535.7(PMS2):c.2223A>G (p.Glu741=) rs2128682957
NM_000535.7(PMS2):c.2226T>A (p.Asn742Lys)
NM_000535.7(PMS2):c.2227C>T (p.Leu743=) rs1583285770
NM_000535.7(PMS2):c.2228T>C (p.Leu743Pro) rs1583285757
NM_000535.7(PMS2):c.2228T>G (p.Leu743Arg) rs1583285757
NM_000535.7(PMS2):c.222G>A (p.Gly74=)
NM_000535.7(PMS2):c.2233A>C (p.Ile745Leu) rs1562605133
NM_000535.7(PMS2):c.2233A>G (p.Ile745Val) rs1562605133
NM_000535.7(PMS2):c.2235A>G (p.Ile745Met) rs1554294453
NM_000535.7(PMS2):c.2236T>C (p.Phe746Leu)
NM_000535.7(PMS2):c.2237T>A (p.Phe746Tyr)
NM_000535.7(PMS2):c.2238T>C (p.Phe746=) rs2128682695
NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter) rs1554294448
NM_000535.7(PMS2):c.223G>A (p.Val75Ile) rs1554304971
NM_000535.7(PMS2):c.223G>T (p.Val75Leu)
NM_000535.7(PMS2):c.223del (p.Gly74_Val75insTer) rs1554304974
NM_000535.7(PMS2):c.2240G>T (p.Arg747Ile) rs587782671
NM_000535.7(PMS2):c.2241A>G (p.Arg747=) rs2128682604
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs) rs267608173
NM_000535.7(PMS2):c.2244G>A (p.Lys748=) rs1443656360
NM_000535.7(PMS2):c.2244G>C (p.Lys748Asn) rs1443656360
NM_000535.7(PMS2):c.2244G>T (p.Lys748Asn) rs1443656360
NM_000535.7(PMS2):c.2245A>G (p.Asn749Asp) rs878854045
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys) rs200824831
NM_000535.7(PMS2):c.2247T>C (p.Asn749=) rs200824831
NM_000535.7(PMS2):c.2247T>G (p.Asn749Lys)
NM_000535.7(PMS2):c.2248G>A (p.Gly750Ser) rs1781977133
NM_000535.7(PMS2):c.2249G>T (p.Gly750Val)
NM_000535.7(PMS2):c.2249del (p.Gly750fs) rs1583285552
NM_000535.7(PMS2):c.224_232del (p.Val75_Glu77del) rs1785415079
NM_000535.7(PMS2):c.2250C>T (p.Gly750=) rs1199360335
NM_000535.7(PMS2):c.2253_2255delinsCGC (p.Asp752Ala) rs2128682292
NM_000535.7(PMS2):c.2253_2256delinsCGAA (p.Asp752Glu) rs2128682246
NM_000535.7(PMS2):c.2256T>G (p.Asp752Glu)
NM_000535.7(PMS2):c.2258T>C (p.Phe753Ser)
NM_000535.7(PMS2):c.2259T>C (p.Phe753=) rs2128682198
NM_000535.7(PMS2):c.2259_2264del (p.Val754_Ile755del) rs2128682119
NM_000535.7(PMS2):c.2260G>A (p.Val754Ile) rs876658822
NM_000535.7(PMS2):c.2260G>C (p.Val754Leu) rs876658822
NM_000535.7(PMS2):c.2262T>A (p.Val754=)
NM_000535.7(PMS2):c.2262T>C (p.Val754=) rs1583285456
NM_000535.7(PMS2):c.2264T>A (p.Ile755Asn) rs386833410
NM_000535.7(PMS2):c.2265C>A (p.Ile755=) rs145646046
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn) rs762206330
NM_000535.7(PMS2):c.2267A>G (p.Asp756Gly) rs1554294409
NM_000535.7(PMS2):c.2267A>T (p.Asp756Val) rs1554294409
NM_000535.7(PMS2):c.2268T>A (p.Asp756Glu) rs1060503119
NM_000535.7(PMS2):c.2269G>T (p.Glu757Ter) rs1583285344
NM_000535.7(PMS2):c.226GAA[2] (p.Glu78del) rs386833411
NM_000535.7(PMS2):c.2270A>C (p.Glu757Ala) rs1554294402
NM_000535.7(PMS2):c.2274T>C (p.Asn758=) rs1554294398
NM_000535.7(PMS2):c.2275+10T>G rs1583285216
NM_000535.7(PMS2):c.2275+11A>C
NM_000535.7(PMS2):c.2275+11A>T rs983422739
NM_000535.7(PMS2):c.2275+11_2275+12insCC
NM_000535.7(PMS2):c.2275+12_2275+15del rs758812244
NM_000535.7(PMS2):c.2275+14T>C
NM_000535.7(PMS2):c.2275+14T>G
NM_000535.7(PMS2):c.2275+16G>A
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+20T>A
NM_000535.7(PMS2):c.2275+20T>C
NM_000535.7(PMS2):c.2275+2T>C rs1562604682
NM_000535.7(PMS2):c.2275+5G>C rs1583285249
NM_000535.7(PMS2):c.2275+7T>C rs1583285237
NM_000535.7(PMS2):c.2275+8A>G rs878854046
NM_000535.7(PMS2):c.2275+8_2275+9insGAAC
NM_000535.7(PMS2):c.2275G>C (p.Ala759Pro) rs1554294396
NM_000535.7(PMS2):c.2275G>T (p.Ala759Ser) rs1554294396
NM_000535.7(PMS2):c.2276-10A>T rs573900018
NM_000535.7(PMS2):c.2276-113_2445+1596del
NM_000535.7(PMS2):c.2276-12G>A
NM_000535.7(PMS2):c.2276-14T>A
NM_000535.7(PMS2):c.2276-16A>G
NM_000535.7(PMS2):c.2276-17A>G rs1057523755
NM_000535.7(PMS2):c.2276-19C>T
NM_000535.7(PMS2):c.2276-1G>C rs2128676082
NM_000535.7(PMS2):c.2276-2A>C rs1554294019
NM_000535.7(PMS2):c.2276-3T>C rs1583281760
NM_000535.7(PMS2):c.2276-6T>C rs1404301908
NM_000535.7(PMS2):c.2276-7C>G rs1280041126
NM_000535.7(PMS2):c.2276-7C>T rs1280041126
NM_000535.7(PMS2):c.2276-91_2445+790del
NM_000535.7(PMS2):c.2276C>A (p.Ala759Asp) rs1219434769
NM_000535.7(PMS2):c.2276C>T (p.Ala759Val) rs1219434769
NM_000535.7(PMS2):c.2277T>A (p.Ala759=)
NM_000535.7(PMS2):c.2277T>C (p.Ala759=)
NM_000535.7(PMS2):c.2278C>T (p.Pro760Ser) rs763468927
NM_000535.7(PMS2):c.2279C>A (p.Pro760Gln)
NM_000535.7(PMS2):c.2279C>T (p.Pro760Leu)
NM_000535.7(PMS2):c.2280A>G (p.Pro760=) rs1781857172
NM_000535.7(PMS2):c.2281G>A (p.Val761Ile) rs201914670
NM_000535.7(PMS2):c.2281del (p.Val761fs)
NM_000535.7(PMS2):c.2283C>A (p.Val761=) rs1554294008
NM_000535.7(PMS2):c.2283C>T (p.Val761=) rs1554294008
NM_000535.7(PMS2):c.2290A>C (p.Arg764=) rs1583281538
NM_000535.7(PMS2):c.2291G>A (p.Arg764Lys) rs1583281502
NM_000535.7(PMS2):c.2293G>C (p.Ala765Pro) rs2128675666
NM_000535.7(PMS2):c.2294C>G (p.Ala765Gly) rs1295232723
NM_000535.7(PMS2):c.2299C>T (p.Leu767=)
NM_000535.7(PMS2):c.22A>G (p.Ser8Gly)
NM_000535.7(PMS2):c.23+11C>G rs1554308925
NM_000535.7(PMS2):c.23+13C>G
NM_000535.7(PMS2):c.23+13C>T rs2128865603
NM_000535.7(PMS2):c.23+14G>A
NM_000535.7(PMS2):c.23+14G>T
NM_000535.7(PMS2):c.23+15C>T rs1786244608
NM_000535.7(PMS2):c.23+19C>T rs756178012
NM_000535.7(PMS2):c.23+1G>A rs587782074
NM_000535.7(PMS2):c.23+21_23+28del rs1554308880
NM_000535.7(PMS2):c.23+2T>G rs2128865814
NM_000535.7(PMS2):c.23+3G>T rs1408475000
NM_000535.7(PMS2):c.23+4A>C rs1583435174
NM_000535.7(PMS2):c.23+4_23+14dup
NM_000535.7(PMS2):c.23+6C>T rs779104357
NM_000535.7(PMS2):c.23+7G>A rs878854047
NM_000535.7(PMS2):c.23+7G>T rs878854047
NM_000535.7(PMS2):c.23+9G>C rs1046717239
NM_000535.7(PMS2):c.2300T>A (p.Leu767Gln)
NM_000535.7(PMS2):c.2300T>C (p.Leu767Pro) rs1781853056
NM_000535.7(PMS2):c.2300T>G (p.Leu767Arg) rs1781853056
NM_000535.7(PMS2):c.2301G>A (p.Leu767=) rs1554293987
NM_000535.7(PMS2):c.2301G>C (p.Leu767=) rs1554293987
NM_000535.7(PMS2):c.2301G>T (p.Leu767=) rs1554293987
NM_000535.7(PMS2):c.2302A>T (p.Ile768Phe) rs2128675445
NM_000535.7(PMS2):c.2303T>G (p.Ile768Ser)
NM_000535.7(PMS2):c.2305T>C (p.Ser769Pro)
NM_000535.7(PMS2):c.2306C>G (p.Ser769Cys)
NM_000535.7(PMS2):c.2307C>T (p.Ser769=) rs1583281386
NM_000535.7(PMS2):c.230A>G (p.Glu77Gly)
NM_000535.7(PMS2):c.2310G>T (p.Leu770Phe) rs1583281360
NM_000535.7(PMS2):c.2311C>T (p.Pro771Ser) rs2128675272
NM_000535.7(PMS2):c.2312C>A (p.Pro771Gln)
NM_000535.7(PMS2):c.2312C>T (p.Pro771Leu) rs759653526
NM_000535.7(PMS2):c.2314A>C (p.Thr772Pro)
NM_000535.7(PMS2):c.2314A>G (p.Thr772Ala)
NM_000535.7(PMS2):c.2315C>T (p.Thr772Ile) rs1781849852
NM_000535.7(PMS2):c.2317A>G (p.Ser773Gly) rs587781489
NM_000535.7(PMS2):c.2318G>C (p.Ser773Thr)
NM_000535.7(PMS2):c.2319T>C (p.Ser773=) rs1298578676
NM_000535.7(PMS2):c.2319T>G (p.Ser773Arg)
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.2324_2328delinsGCTGA (p.Asn775_Trp776delinsSerTer) rs1554293959
NM_000535.7(PMS2):c.2324_2328delinsGCTGT (p.Asn775_Trp776delinsSerCys)
NM_000535.7(PMS2):c.2324del (p.Asn775fs)
NM_000535.7(PMS2):c.2328G>C (p.Trp776Cys)
NM_000535.7(PMS2):c.232G>C (p.Glu78Gln) rs1785414812
NM_000535.7(PMS2):c.232G>T (p.Glu78Ter)
NM_000535.7(PMS2):c.232_235del (p.Glu78fs) rs1583410315
NM_000535.7(PMS2):c.2330C>G (p.Thr777Ser) rs777728316
NM_000535.7(PMS2):c.2330C>T (p.Thr777Ile) rs777728316
NM_000535.7(PMS2):c.2331C>T (p.Thr777=) rs1583281105
NM_000535.7(PMS2):c.2331dup (p.Phe778fs)
NM_000535.7(PMS2):c.2334C>A (p.Phe778Leu)
NM_000535.7(PMS2):c.2335G>C (p.Gly779Arg)
NM_000535.7(PMS2):c.2335G>T (p.Gly779Ter)
NM_000535.7(PMS2):c.2336G>C (p.Gly779Ala) rs1562601675
NM_000535.7(PMS2):c.2337A>T (p.Gly779=) rs1583280992
NM_000535.7(PMS2):c.2338C>T (p.Pro780Ser) rs1064796041
NM_000535.7(PMS2):c.2339_2343del (p.Pro780fs)
NM_000535.7(PMS2):c.233A>G (p.Glu78Gly) rs2128829529
NM_000535.7(PMS2):c.2340C>A (p.Pro780=)
NM_000535.7(PMS2):c.2341C>A (p.Gln781Lys) rs587780054
NM_000535.7(PMS2):c.2341C>T (p.Gln781Ter) rs587780054
NM_000535.7(PMS2):c.2341del (p.Gln781fs)
NM_000535.7(PMS2):c.2341dup (p.Gln781fs) rs2128674468
NM_000535.7(PMS2):c.2343G>A (p.Gln781=) rs786202531
NM_000535.7(PMS2):c.2345A>T (p.Asp782Val) rs745500014
NM_000535.7(PMS2):c.2345_2347del (p.Asp782del) rs1554293941
NM_000535.7(PMS2):c.2347G>T (p.Val783Phe) rs553286217
NM_000535.7(PMS2):c.2349C>G (p.Val783=) rs751036491
NM_000535.7(PMS2):c.2350G>C (p.Asp784His)
NM_000535.7(PMS2):c.2352T>C (p.Asp784=)
NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter) rs1554293920
NM_000535.7(PMS2):c.2355A>G (p.Glu785=) rs1419416825
NM_000535.7(PMS2):c.2356C>T (p.Leu786=) rs576055272
NM_000535.7(PMS2):c.2357T>C (p.Leu786Pro)
NM_000535.7(PMS2):c.2357_2445+510del rs1562598658
NM_000535.7(PMS2):c.2358G>A (p.Leu786=) rs535056715
NM_000535.7(PMS2):c.2360T>A (p.Ile787Asn) rs1781837155
NM_000535.7(PMS2):c.2360T>C (p.Ile787Thr)
NM_000535.7(PMS2):c.2361C>G (p.Ile787Met) rs1064794923
NM_000535.7(PMS2):c.2361C>T (p.Ile787=)
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs) rs267608160
NM_000535.7(PMS2):c.2364C>T (p.Phe788=) rs2128673667
NM_000535.7(PMS2):c.2365A>G (p.Met789Val) rs377259633
NM_000535.7(PMS2):c.2367G>A (p.Met789Ile) rs766565506
NM_000535.7(PMS2):c.2367G>C (p.Met789Ile)
NM_000535.7(PMS2):c.2368C>T (p.Leu790=) rs1583280484
NM_000535.7(PMS2):c.2369T>A (p.Leu790Gln)
NM_000535.7(PMS2):c.2370G>A (p.Leu790=) rs2128673512
NM_000535.7(PMS2):c.2372G>A (p.Ser791Asn) rs2128673461
NM_000535.7(PMS2):c.2372G>C (p.Ser791Thr) rs2128673461
NM_000535.7(PMS2):c.2373C>G (p.Ser791Arg) rs864622765
NM_000535.7(PMS2):c.2373del (p.Ser791fs)
NM_000535.7(PMS2):c.2377A>G (p.Ser793Gly) rs1781833468
NM_000535.7(PMS2):c.2378G>A (p.Ser793Asn) rs1583280432
NM_000535.7(PMS2):c.2379C>A (p.Ser793Arg) rs1554293887
NM_000535.7(PMS2):c.2379C>T (p.Ser793=) rs1554293887
NM_000535.7(PMS2):c.237C>G (p.Asn79Lys)
NM_000535.7(PMS2):c.237C>T (p.Asn79=)
NM_000535.7(PMS2):c.2380C>G (p.Pro794Ala) rs773393960
NM_000535.7(PMS2):c.2380C>T (p.Pro794Ser) rs773393960
NM_000535.7(PMS2):c.2380_2381dup (p.Gly795fs) rs2128673214
NM_000535.7(PMS2):c.2381C>G (p.Pro794Arg) rs876659030
NM_000535.7(PMS2):c.2382T>C (p.Pro794=) rs1057521269
NM_000535.7(PMS2):c.2383G>A (p.Gly795Arg) rs1423733655
NM_000535.7(PMS2):c.2384G>A (p.Gly795Glu) rs786203838
NM_000535.7(PMS2):c.2385G>A (p.Gly795=) rs372868520
NM_000535.7(PMS2):c.2385G>C (p.Gly795=) rs372868520
NM_000535.7(PMS2):c.2385G>T (p.Gly795=) rs372868520
NM_000535.7(PMS2):c.2386dup (p.Val796fs)
NM_000535.7(PMS2):c.2388C>T (p.Val796=) rs876660875
NM_000535.7(PMS2):c.2389A>T (p.Met797Leu) rs1433888137
NM_000535.7(PMS2):c.2390T>A (p.Met797Lys) rs267608152
NM_000535.7(PMS2):c.2390T>C (p.Met797Thr) rs267608152
NM_000535.7(PMS2):c.2391G>A (p.Met797Ile) rs1554293841
NM_000535.7(PMS2):c.2392T>C (p.Cys798Arg) rs1554293839
NM_000535.7(PMS2):c.2393G>A (p.Cys798Tyr) rs2128672830
NM_000535.7(PMS2):c.2394C>G (p.Cys798Trp)
NM_000535.7(PMS2):c.2394C>T (p.Cys798=) rs1583280086
NM_000535.7(PMS2):c.2395dup (p.Arg799fs)
NM_000535.7(PMS2):c.2397G>A (p.Arg799=) rs1554293832
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs) rs2128672594
NM_000535.7(PMS2):c.2397del (p.Pro800fs)
NM_000535.7(PMS2):c.2399C>T (p.Pro800Leu) rs200629542
NM_000535.7(PMS2):c.2399dup (p.Ser801fs)
NM_000535.7(PMS2):c.239T>G (p.Phe80Cys) rs1064795697
NM_000535.7(PMS2):c.239_242dup (p.Glu81fs) rs2128829368
NM_000535.7(PMS2):c.239_250+2del
NM_000535.7(PMS2):c.23G>A (p.Ser8Asn) rs1352544158
NM_000535.7(PMS2):c.24-11G>T rs1554306632
NM_000535.7(PMS2):c.24-12_107delinsAAAT rs1554306445
NM_000535.7(PMS2):c.24-13C>T
NM_000535.7(PMS2):c.24-14A>G rs2128847501
NM_000535.7(PMS2):c.24-15A>C
NM_000535.7(PMS2):c.24-16T>C
NM_000535.7(PMS2):c.24-1G>A rs1785723689
NM_000535.7(PMS2):c.24-20C>T rs2128847610
NM_000535.7(PMS2):c.24-4C>G rs2345056
NM_000535.7(PMS2):c.24-4C>T
NM_000535.7(PMS2):c.24-6C>A rs1465940485
NM_000535.7(PMS2):c.2403C>G (p.Ser801=) rs1554293820
NM_000535.7(PMS2):c.2404C>A (p.Arg802=) rs63751466
NM_000535.7(PMS2):c.2404C>G (p.Arg802Gly)
NM_000535.7(PMS2):c.2405G>C (p.Arg802Pro)
NM_000535.7(PMS2):c.2406A>G (p.Arg802=) rs1583279849
NM_000535.7(PMS2):c.2407G>A (p.Val803Ile) rs745614929
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.2410A>T (p.Lys804Ter) rs2128672286
NM_000535.7(PMS2):c.2412G>A (p.Lys804=) rs547715146
NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter) rs1554293810
NM_000535.7(PMS2):c.2415G>A (p.Gln805=) rs780866508
NM_000535.7(PMS2):c.2416A>G (p.Met806Val) rs1554293792
NM_000535.7(PMS2):c.2416A>T (p.Met806Leu) rs1554293792
NM_000535.7(PMS2):c.2417T>C (p.Met806Thr) rs1781820682
NM_000535.7(PMS2):c.2418G>A (p.Met806Ile) rs786203096
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.2422G>C (p.Ala808Pro) rs1306035279
NM_000535.7(PMS2):c.2424C>T (p.Ala808=) rs1583279664
NM_000535.7(PMS2):c.2425_2426del (p.Ser809fs)
NM_000535.7(PMS2):c.2426C>G (p.Ser809Cys)
NM_000535.7(PMS2):c.2426C>T (p.Ser809Phe) rs1583279643
NM_000535.7(PMS2):c.2427C>G (p.Ser809=) rs2128671880
NM_000535.7(PMS2):c.2428A>G (p.Arg810Gly) rs1781818536
NM_000535.7(PMS2):c.2429G>A (p.Arg810Lys) rs535705597
NM_000535.7(PMS2):c.2429G>C (p.Arg810Thr) rs535705597
NM_000535.7(PMS2):c.2429G>T (p.Arg810Ile)
NM_000535.7(PMS2):c.2430A>T (p.Arg810Ser) rs1583279606
NM_000535.7(PMS2):c.2432C>T (p.Ala811Val) rs1387206284
NM_000535.7(PMS2):c.2433C>T (p.Ala811=) rs1583279559
NM_000535.7(PMS2):c.2435G>A (p.Cys812Tyr) rs876661116
NM_000535.7(PMS2):c.2435G>T (p.Cys812Phe) rs876661116
NM_000535.7(PMS2):c.2436C>T (p.Cys812=) rs1583279521
NM_000535.7(PMS2):c.2437C>G (p.Arg813Gly) rs375968016
NM_000535.7(PMS2):c.2438G>A (p.Arg813Gln) rs587782665
NM_000535.7(PMS2):c.2438G>C (p.Arg813Pro)
NM_000535.7(PMS2):c.2439G>A (p.Arg813=)
NM_000535.7(PMS2):c.2439G>C (p.Arg813=)
NM_000535.7(PMS2):c.2442G>A (p.Lys814=) rs1554293745
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+10G>A rs2128671438
NM_000535.7(PMS2):c.2445+11_2445+14del rs778603648
NM_000535.7(PMS2):c.2445+13A>G
NM_000535.7(PMS2):c.2445+14G>A rs913201632
NM_000535.7(PMS2):c.2445+18G>C
NM_000535.7(PMS2):c.2445+19G>A
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.2445+3A>G
NM_000535.7(PMS2):c.2445+5G>C rs1583279335
NM_000535.7(PMS2):c.2445+6T>C rs1170182390
NM_000535.7(PMS2):c.2445+7A>C rs1454935986
NM_000535.7(PMS2):c.2445+7A>G
NM_000535.7(PMS2):c.2445+8A>G rs1057522180
NM_000535.7(PMS2):c.2445+8A>T rs1057522180
NM_000535.7(PMS2):c.2445+9A>G rs1562600132
NM_000535.7(PMS2):c.2445+9A>T
NM_000535.7(PMS2):c.2445+9del rs1064793472
NM_000535.7(PMS2):c.2445G>C (p.Ser815=)
NM_000535.7(PMS2):c.2446-10T>G
NM_000535.7(PMS2):c.2446-11C>T rs1417331861
NM_000535.7(PMS2):c.2446-12T>C rs1781513491
NM_000535.7(PMS2):c.2446-13G>A
NM_000535.7(PMS2):c.2446-13G>C
NM_000535.7(PMS2):c.2446-14T>C
NM_000535.7(PMS2):c.2446-15G>A rs2128659545
NM_000535.7(PMS2):c.2446-15G>T
NM_000535.7(PMS2):c.2446-16T>C
NM_000535.7(PMS2):c.2446-17T>A
NM_000535.7(PMS2):c.2446-17T>C rs1184611724
NM_000535.7(PMS2):c.2446-19C>T rs1390101876
NM_000535.7(PMS2):c.2446-20C>G rs1781514389
NM_000535.7(PMS2):c.2446-20C>T
NM_000535.7(PMS2):c.2446-2A>C rs886039709
NM_000535.7(PMS2):c.2446-3C>T rs1781512229
NM_000535.7(PMS2):c.2446-5C>G rs864622279
NM_000535.7(PMS2):c.2446-5C>T rs864622279
NM_000535.7(PMS2):c.2446-5_2446-2del rs876658344
NM_000535.7(PMS2):c.2446-6A>G rs1554292905
NM_000535.7(PMS2):c.2446-8A>C rs1583270574
NM_000535.7(PMS2):c.2446-8A>T rs1583270574
NM_000535.7(PMS2):c.2446-9C>T rs2128659466
NM_000535.7(PMS2):c.2446G>A (p.Val816Met)
NM_000535.7(PMS2):c.2446G>C (p.Val816Leu)
NM_000535.7(PMS2):c.2446G>T (p.Val816Leu) rs876659479
NM_000535.7(PMS2):c.2447T>G (p.Val816Gly) rs1060503140
NM_000535.7(PMS2):c.2448G>A (p.Val816=) rs1583270439
NM_000535.7(PMS2):c.2448G>C (p.Val816=) rs1583270439
NM_000535.7(PMS2):c.2448GAT[1] (p.Met817del) rs1781510137
NM_000535.7(PMS2):c.2449A>G (p.Met817Val)
NM_000535.7(PMS2):c.2450del (p.Met817fs)
NM_000535.7(PMS2):c.2452A>G (p.Ile818Val)
NM_000535.7(PMS2):c.2452A>T (p.Ile818Phe) rs2128659230
NM_000535.7(PMS2):c.2455G>A (p.Gly819Arg)
NM_000535.7(PMS2):c.2456G>T (p.Gly819Val)
NM_000535.7(PMS2):c.2457G>T (p.Gly819=) rs786203315
NM_000535.7(PMS2):c.2458dup (p.Thr820fs) rs1554292880
NM_000535.7(PMS2):c.2459C>A (p.Thr820Asn) rs1583270329
NM_000535.7(PMS2):c.2462C>G (p.Ala821Gly) rs2128658992
NM_000535.7(PMS2):c.2462_2466delinsGTCTC (p.Ala821Gly)
NM_000535.7(PMS2):c.2464C>G (p.Leu822Val) rs1554292873
NM_000535.7(PMS2):c.2464_2466delinsGTC (p.Leu822Val)
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.2470A>G (p.Thr824Ala) rs1583270215
NM_000535.7(PMS2):c.2471C>A (p.Thr824Lys) rs1354323014
NM_000535.7(PMS2):c.2471C>G (p.Thr824Arg) rs1354323014
NM_000535.7(PMS2):c.2474G>A (p.Ser825Asn) rs1562594318
NM_000535.7(PMS2):c.2475C>G (p.Ser825Arg)
NM_000535.7(PMS2):c.2475C>T (p.Ser825=) rs776460258
NM_000535.7(PMS2):c.2478G>A (p.Glu826=) rs1562594255
NM_000535.7(PMS2):c.2478G>C (p.Glu826Asp) rs1562594255
NM_000535.7(PMS2):c.2479A>G (p.Met827Val) rs876659537
NM_000535.7(PMS2):c.247_250dup (p.Thr84fs) rs1554304940
NM_000535.7(PMS2):c.2483A>C (p.Lys828Thr)
NM_000535.7(PMS2):c.2483A>G (p.Lys828Arg) rs1583270024
NM_000535.7(PMS2):c.2484G>T (p.Lys828Asn) rs1583269995
NM_000535.7(PMS2):c.2485A>C (p.Lys829Gln)
NM_000535.7(PMS2):c.2487A>G (p.Lys829=) rs2128658551
NM_000535.7(PMS2):c.2488C>T (p.Leu830=) rs2128658537
NM_000535.7(PMS2):c.2489T>C (p.Leu830Pro) rs1781502574
NM_000535.7(PMS2):c.2490G>A (p.Leu830=) rs1334620570
NM_000535.7(PMS2):c.2490G>C (p.Leu830=) rs1334620570
NM_000535.7(PMS2):c.2490G>T (p.Leu830=) rs1334620570
NM_000535.7(PMS2):c.2491A>G (p.Ile831Val) rs876661221
NM_000535.7(PMS2):c.2491A>T (p.Ile831Phe)
NM_000535.7(PMS2):c.2493C>T (p.Ile831=) rs1583269924
NM_000535.7(PMS2):c.2495C>G (p.Thr832Ser)
NM_000535.7(PMS2):c.2496C>T (p.Thr832=) rs746653856
NM_000535.7(PMS2):c.2497C>G (p.His833Asp) rs777470381
NM_000535.7(PMS2):c.2499C>G (p.His833Gln) rs876659564
NM_000535.7(PMS2):c.2499C>T (p.His833=) rs876659564
NM_000535.7(PMS2):c.24T>C (p.Ser8=) rs1554306620
NM_000535.7(PMS2):c.24T>G (p.Ser8Arg)
NM_000535.7(PMS2):c.250+10C>G rs368113288
NM_000535.7(PMS2):c.250+10C>T rs368113288
NM_000535.7(PMS2):c.250+12T>C rs1057523757
NM_000535.7(PMS2):c.250+12T>G
NM_000535.7(PMS2):c.250+13T>C
NM_000535.7(PMS2):c.250+16C>G rs1554304924
NM_000535.7(PMS2):c.250+16del
NM_000535.7(PMS2):c.250+17T>G rs1057524040
NM_000535.7(PMS2):c.250+1G>A
NM_000535.7(PMS2):c.250+20T>A rs1357781639
NM_000535.7(PMS2):c.250+20T>C rs1357781639
NM_000535.7(PMS2):c.250+3A>C
NM_000535.7(PMS2):c.250+4A>C
NM_000535.7(PMS2):c.250+4A>G rs1554304934
NM_000535.7(PMS2):c.250+5G>A rs1458809226
NM_000535.7(PMS2):c.250+5G>C rs1458809226
NM_000535.7(PMS2):c.250+6T>G rs1583410029
NM_000535.7(PMS2):c.250+8G>A rs1057520511
NM_000535.7(PMS2):c.250+9A>G rs2128829143
NM_000535.7(PMS2):c.250+9A>T
NM_000535.7(PMS2):c.2500A>C (p.Met834Leu) rs1554292828
NM_000535.7(PMS2):c.2500A>G (p.Met834Val)
NM_000535.7(PMS2):c.2500A>T (p.Met834Leu) rs1554292828
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs) rs587781626
NM_000535.7(PMS2):c.2501T>A (p.Met834Lys)
NM_000535.7(PMS2):c.2501T>C (p.Met834Thr)
NM_000535.7(PMS2):c.2502G>C (p.Met834Ile) rs1554292818
NM_000535.7(PMS2):c.2502G>T (p.Met834Ile) rs1554292818
NM_000535.7(PMS2):c.2504G>A (p.Gly835Glu) rs1454373685
NM_000535.7(PMS2):c.2505G>A (p.Gly835=) rs1583269666
NM_000535.7(PMS2):c.2505G>T (p.Gly835=) rs1583269666
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter) rs786201039
NM_000535.7(PMS2):c.2506del (p.Glu836fs) rs2128658092
NM_000535.7(PMS2):c.2508G>A (p.Glu836=) rs2128658051
NM_000535.7(PMS2):c.2509A>G (p.Met837Val)
NM_000535.7(PMS2):c.2509A>T (p.Met837Leu) rs1583269633
NM_000535.7(PMS2):c.250A>C (p.Thr84Pro) rs1554304938
NM_000535.7(PMS2):c.251-10T>A rs1554304817
NM_000535.7(PMS2):c.251-10T>C rs1554304817
NM_000535.7(PMS2):c.251-11C>T rs761795058
NM_000535.7(PMS2):c.251-11CT[2]
NM_000535.7(PMS2):c.251-13C>T rs1554304821
NM_000535.7(PMS2):c.251-14A>G
NM_000535.7(PMS2):c.251-15T>C
NM_000535.7(PMS2):c.251-15T>G
NM_000535.7(PMS2):c.251-15dup
NM_000535.7(PMS2):c.251-16T>C
NM_000535.7(PMS2):c.251-16T>G
NM_000535.7(PMS2):c.251-18C>G rs766811365
NM_000535.7(PMS2):c.251-18C>T rs766811365
NM_000535.7(PMS2):c.251-19A>C
NM_000535.7(PMS2):c.251-19_251-16del
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.251-2A>G rs587779340
NM_000535.7(PMS2):c.251-5T>C
NM_000535.7(PMS2):c.251-5T>G rs2128827794
NM_000535.7(PMS2):c.251-6_251-3del rs2128827769
NM_000535.7(PMS2):c.251-7C>G rs1583409220
NM_000535.7(PMS2):c.251-7C>T rs1583409220
NM_000535.7(PMS2):c.251-9C>T rs1064793639
NM_000535.7(PMS2):c.2511G>A (p.Met837Ile) rs1554292802
NM_000535.7(PMS2):c.2513A>G (p.Asp838Gly) rs1029895711
NM_000535.7(PMS2):c.2515_2517delinsAGTT (p.His839fs) rs2128657907
NM_000535.7(PMS2):c.2516A>G (p.His839Arg) rs1562593924
NM_000535.7(PMS2):c.2516_2519del (p.His839fs)
NM_000535.7(PMS2):c.2518C>T (p.Pro840Ser) rs1562593877
NM_000535.7(PMS2):c.2519C>T (p.Pro840Leu) rs1554292787
NM_000535.7(PMS2):c.2520C>G (p.Pro840=) rs1583269491
NM_000535.7(PMS2):c.2520C>T (p.Pro840=) rs1583269491
NM_000535.7(PMS2):c.2521T>C (p.Trp841Arg) rs1781493914
NM_000535.7(PMS2):c.2522G>A (p.Trp841Ter) rs876661203
NM_000535.7(PMS2):c.2523del (p.Pro840_Trp841insTer)
NM_000535.7(PMS2):c.2526C>A (p.Asn842Lys) rs755478893
NM_000535.7(PMS2):c.2527T>C (p.Cys843Arg) rs1554292753
NM_000535.7(PMS2):c.2528G>A (p.Cys843Tyr) rs267608174
NM_000535.7(PMS2):c.2528G>C (p.Cys843Ser)
NM_000535.7(PMS2):c.2528G>T (p.Cys843Phe)
NM_000535.7(PMS2):c.2529T>C (p.Cys843=) rs1583269331
NM_000535.7(PMS2):c.2529_2537del (p.Cys843_Gly846delinsTer)
NM_000535.7(PMS2):c.2529del (p.His845fs)
NM_000535.7(PMS2):c.252T>C (p.Thr84=) rs2128827696
NM_000535.7(PMS2):c.252T>G (p.Thr84=)
NM_000535.7(PMS2):c.2530C>A (p.Pro844Thr) rs1781490910
NM_000535.7(PMS2):c.2530C>G (p.Pro844Ala) rs1781490910
NM_000535.7(PMS2):c.2530C>T (p.Pro844Ser) rs1781490910
NM_000535.7(PMS2):c.2531C>A (p.Pro844His) rs587782787
NM_000535.7(PMS2):c.2531C>G (p.Pro844Arg) rs587782787
NM_000535.7(PMS2):c.2532C>G (p.Pro844=) rs1554292744
NM_000535.7(PMS2):c.2532C>T (p.Pro844=) rs1554292744
NM_000535.7(PMS2):c.2533C>G (p.His845Asp) rs1781489538
NM_000535.7(PMS2):c.2533del (p.His845fs) rs1064796500
NM_000535.7(PMS2):c.2534A>C (p.His845Pro) rs1554292741
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.2535T>G (p.His845Gln)
NM_000535.7(PMS2):c.2536G>T (p.Gly846Ter) rs1583269216
NM_000535.7(PMS2):c.2538A>G (p.Gly846=) rs863224368
NM_000535.7(PMS2):c.253C>G (p.Leu85Val) rs1554304801
NM_000535.7(PMS2):c.2540G>C (p.Arg847Thr) rs1583269177
NM_000535.7(PMS2):c.2541del (p.Arg847fs)
NM_000535.7(PMS2):c.2542C>T (p.Pro848Ser)
NM_000535.7(PMS2):c.2543C>T (p.Pro848Leu) rs786201850
NM_000535.7(PMS2):c.2544A>G (p.Pro848=) rs1583269135
NM_000535.7(PMS2):c.2545A>T (p.Thr849Ser)
NM_000535.7(PMS2):c.2546C>G (p.Thr849Ser) rs876660627
NM_000535.7(PMS2):c.2546C>T (p.Thr849Ile) rs876660627
NM_000535.7(PMS2):c.2547C>G (p.Thr849=) rs876660072
NM_000535.7(PMS2):c.2547C>T (p.Thr849=)
NM_000535.7(PMS2):c.2548A>G (p.Met850Val)
NM_000535.7(PMS2):c.2549T>C (p.Met850Thr)
NM_000535.7(PMS2):c.2549T>G (p.Met850Arg) rs1781486223
NM_000535.7(PMS2):c.2550_2552delinsCGCCA (p.Met850fs) rs1064792975
NM_000535.7(PMS2):c.2551A>G (p.Arg851Gly) rs1781485917
NM_000535.7(PMS2):c.2552G>A (p.Arg851Lys)
NM_000535.7(PMS2):c.2552G>C (p.Arg851Thr) rs2128657167
NM_000535.7(PMS2):c.2553A>G (p.Arg851=)
NM_000535.7(PMS2):c.2554C>T (p.His852Tyr) rs754350493
NM_000535.7(PMS2):c.2555dup (p.His852fs) rs2128657099
NM_000535.7(PMS2):c.2556C>A (p.His852Gln) rs1583269042
NM_000535.7(PMS2):c.2556C>G (p.His852Gln) rs1583269042
NM_000535.7(PMS2):c.2556C>T (p.His852=) rs1583269042
NM_000535.7(PMS2):c.2557A>G (p.Ile853Val) rs1188808116
NM_000535.7(PMS2):c.2559C>T (p.Ile853=) rs371673459
NM_000535.7(PMS2):c.2560G>C (p.Ala854Pro) rs574371474
NM_000535.7(PMS2):c.2560G>T (p.Ala854Ser) rs574371474
NM_000535.7(PMS2):c.2562C>G (p.Ala854=) rs1060504841
NM_000535.7(PMS2):c.2562C>T (p.Ala854=) rs1060504841
NM_000535.7(PMS2):c.2565C>T (p.Asn855=) rs864622494
NM_000535.7(PMS2):c.2566C>T (p.Leu856=) rs1421089696
NM_000535.7(PMS2):c.2569G>A (p.Gly857Ser) rs750820328
NM_000535.7(PMS2):c.2569_2570inv (p.Gly857Pro)
NM_000535.7(PMS2):c.256A>C (p.Lys86Gln) rs544441867
NM_000535.7(PMS2):c.256A>G (p.Lys86Glu)
NM_000535.7(PMS2):c.2570G>T (p.Gly857Val) rs1802683
NM_000535.7(PMS2):c.2570_2574delinsCTGTG (p.Gly857Ala)
NM_000535.7(PMS2):c.2572G>A (p.Val858Ile) rs368036201
NM_000535.7(PMS2):c.2574C>A (p.Val858=)
NM_000535.7(PMS2):c.2575A>C (p.Ile859Leu)
NM_000535.7(PMS2):c.2579C>G (p.Ser860Cys) rs1583268744
NM_000535.7(PMS2):c.2580T>G (p.Ser860=) rs2128656646
NM_000535.7(PMS2):c.2582A>G (p.Gln861Arg)
NM_000535.7(PMS2):c.2585A>G (p.Asn862Ser) rs2128656594
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.2588G>T (p.Ter863Leu) rs1554292688
NM_000535.7(PMS2):c.2589A>G (p.Ter863Trp) rs1781477892
NM_000535.7(PMS2):c.2589_*12del (p.Ter863CysextTer?) rs1781476068
NM_000535.7(PMS2):c.259C>T (p.His87Tyr)
NM_000535.7(PMS2):c.260A>G (p.His87Arg) rs1340959686
NM_000535.7(PMS2):c.261_265del (p.His88fs)
NM_000535.7(PMS2):c.262C>T (p.His88Tyr)
NM_000535.7(PMS2):c.262dup (p.His88fs)
NM_000535.7(PMS2):c.263A>G (p.His88Arg) rs1554304774
NM_000535.7(PMS2):c.264C>T (p.His88=) rs1562694128
NM_000535.7(PMS2):c.266C>T (p.Thr89Ile) rs1275124814
NM_000535.7(PMS2):c.267_268insGATA (p.Ser90fs)
NM_000535.7(PMS2):c.269C>A (p.Ser90Tyr) rs770678468
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.270T>C (p.Ser90=)
NM_000535.7(PMS2):c.270T>G (p.Ser90=) rs876660414
NM_000535.7(PMS2):c.270dup (p.Lys91Ter)
NM_000535.7(PMS2):c.271A>G (p.Lys91Glu) rs1785382109
NM_000535.7(PMS2):c.272A>G (p.Lys91Arg) rs1583408934
NM_000535.7(PMS2):c.274A>G (p.Ile92Val) rs1333262869
NM_000535.7(PMS2):c.274A>T (p.Ile92Phe) rs1333262869
NM_000535.7(PMS2):c.275T>G (p.Ile92Ser) rs1554304738
NM_000535.7(PMS2):c.276T>G (p.Ile92Met)
NM_000535.7(PMS2):c.278A>G (p.Gln93Arg) rs1785380060
NM_000535.7(PMS2):c.279A>G (p.Gln93=) rs1554304728
NM_000535.7(PMS2):c.27A>G (p.Thr9=)
NM_000535.7(PMS2):c.280G>A (p.Glu94Lys) rs1583408872
NM_000535.7(PMS2):c.283T>C (p.Phe95Leu) rs1554304717
NM_000535.7(PMS2):c.284T>A (p.Phe95Tyr)
NM_000535.7(PMS2):c.285T>C (p.Phe95=) rs1583408820
NM_000535.7(PMS2):c.285T>G (p.Phe95Leu) rs1583408820
NM_000535.7(PMS2):c.286G>A (p.Ala96Thr) rs772740220
NM_000535.7(PMS2):c.288C>G (p.Ala96=) rs12532895
NM_000535.7(PMS2):c.289G>C (p.Asp97His) rs1395998044
NM_000535.7(PMS2):c.289G>T (p.Asp97Tyr) rs1395998044
NM_000535.7(PMS2):c.291C>A (p.Asp97Glu) rs878854049
NM_000535.7(PMS2):c.291C>G (p.Asp97Glu)
NM_000535.7(PMS2):c.292C>T (p.Leu98=) rs1583408706
NM_000535.7(PMS2):c.294A>C (p.Leu98=)
NM_000535.7(PMS2):c.296C>G (p.Thr99Ser) rs786202835
NM_000535.7(PMS2):c.296C>T (p.Thr99Ile) rs786202835
NM_000535.7(PMS2):c.298C>G (p.Gln100Glu) rs1554304696
NM_000535.7(PMS2):c.298C>T (p.Gln100Ter)
NM_000535.7(PMS2):c.299A>G (p.Gln100Arg) rs747771951
NM_000535.7(PMS2):c.299A>T (p.Gln100Leu) rs747771951
NM_000535.7(PMS2):c.299_301del (p.Gln100_Val101delinsLeu)
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.2T>G (p.Met1Arg) rs587780059
NM_000535.7(PMS2):c.2_3delinsA (p.Met1fs)
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.301G>C (p.Val101Leu)
NM_000535.7(PMS2):c.303T>C (p.Val101=)
NM_000535.7(PMS2):c.304del (p.Glu102fs)
NM_000535.7(PMS2):c.307A>G (p.Thr103Ala)
NM_000535.7(PMS2):c.308C>G (p.Thr103Ser)
NM_000535.7(PMS2):c.308C>T (p.Thr103Ile) rs1562693788
NM_000535.7(PMS2):c.308del (p.Thr103fs)
NM_000535.7(PMS2):c.309T>G (p.Thr103=) rs786202834
NM_000535.7(PMS2):c.30A>G (p.Glu10=) rs876660608
NM_000535.7(PMS2):c.310T>C (p.Phe104Leu) rs1554304677
NM_000535.7(PMS2):c.311T>C (p.Phe104Ser) rs876660295
NM_000535.7(PMS2):c.311T>G (p.Phe104Cys) rs876660295
NM_000535.7(PMS2):c.312T>C (p.Phe104=) rs778519215
NM_000535.7(PMS2):c.312del (p.Phe104fs) rs1785372371
NM_000535.7(PMS2):c.313G>C (p.Gly105Arg) rs1554304666
NM_000535.7(PMS2):c.314G>A (p.Gly105Asp) rs876659413
NM_000535.7(PMS2):c.314G>C (p.Gly105Ala) rs876659413
NM_000535.7(PMS2):c.314G>T (p.Gly105Val)
NM_000535.7(PMS2):c.315C>T (p.Gly105=) rs1472855482
NM_000535.7(PMS2):c.31C>G (p.Pro11Ala) rs1554306608
NM_000535.7(PMS2):c.31C>T (p.Pro11Ser) rs1554306608
NM_000535.7(PMS2):c.320_321insT (p.Glu109fs)
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>A (p.Gly108Arg)
NM_000535.7(PMS2):c.322G>T (p.Gly108Trp) rs750866397
NM_000535.7(PMS2):c.323G>T (p.Gly108Val) rs1785369293
NM_000535.7(PMS2):c.324G>A (p.Gly108=) rs1057522330
NM_000535.7(PMS2):c.324G>T (p.Gly108=)
NM_000535.7(PMS2):c.325G>A (p.Glu109Lys) rs63749862
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.326A>G (p.Glu109Gly) rs1785367984
NM_000535.7(PMS2):c.327A>G (p.Glu109=) rs1554304637
NM_000535.7(PMS2):c.329C>T (p.Ala110Val)
NM_000535.7(PMS2):c.331C>G (p.Leu111Val) rs864622232
NM_000535.7(PMS2):c.332T>C (p.Leu111Pro) rs1554304623
NM_000535.7(PMS2):c.333G>T (p.Leu111=) rs2128826358
NM_000535.7(PMS2):c.334A>G (p.Ser112Gly) rs1254565992
NM_000535.7(PMS2):c.335G>A (p.Ser112Asn)
NM_000535.7(PMS2):c.335G>C (p.Ser112Thr) rs1219157493
NM_000535.7(PMS2):c.336C>T (p.Ser112=) rs1583408255
NM_000535.7(PMS2):c.33T>C (p.Pro11=) rs780178572
NM_000535.7(PMS2):c.33del (p.Ala12fs) rs1554306605
NM_000535.7(PMS2):c.343T>A (p.Cys115Ser) rs1290792398
NM_000535.7(PMS2):c.343T>C (p.Cys115Arg) rs1290792398
NM_000535.7(PMS2):c.343T>G (p.Cys115Gly)
NM_000535.7(PMS2):c.345_346del (p.Ala116fs) rs1785363766
NM_000535.7(PMS2):c.346G>C (p.Ala116Pro)
NM_000535.7(PMS2):c.346G>T (p.Ala116Ser) rs751799116
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.348A>G (p.Ala116=) rs763057312
NM_000535.7(PMS2):c.348A>T (p.Ala116=) rs763057312
NM_000535.7(PMS2):c.349C>A (p.Leu117Met) rs1554304592
NM_000535.7(PMS2):c.349C>G (p.Leu117Val) rs1554304592
NM_000535.7(PMS2):c.349C>T (p.Leu117=) rs1554304592
NM_000535.7(PMS2):c.349_350del (p.Leu117fs)
NM_000535.7(PMS2):c.351G>A (p.Leu117=) rs1583408121
NM_000535.7(PMS2):c.351del (p.Ser118fs)
NM_000535.7(PMS2):c.353+10T>C rs1554304568
NM_000535.7(PMS2):c.353+11A>G
NM_000535.7(PMS2):c.353+14T>G
NM_000535.7(PMS2):c.353+15T>G rs2128825710
NM_000535.7(PMS2):c.353+17A>G
NM_000535.7(PMS2):c.353+17A>T rs2128825676
NM_000535.7(PMS2):c.353+18T>C rs2128825657
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>A
NM_000535.7(PMS2):c.353+2T>C rs111466480
NM_000535.7(PMS2):c.353+2T>G
NM_000535.7(PMS2):c.353+4del rs1785360310
NM_000535.7(PMS2):c.353+7C>G rs1057520512
NM_000535.7(PMS2):c.353+7C>T rs1057520512
NM_000535.7(PMS2):c.353+8A>C
NM_000535.7(PMS2):c.353+8A>G
NM_000535.7(PMS2):c.353+9A>G
NM_000535.7(PMS2):c.353G>A (p.Ser118Asn) rs1394474494
NM_000535.7(PMS2):c.353G>C (p.Ser118Thr)
NM_000535.7(PMS2):c.353G>T (p.Ser118Ile) rs1394474494
NM_000535.7(PMS2):c.354-12A>G rs1554304135
NM_000535.7(PMS2):c.354-12A>T
NM_000535.7(PMS2):c.354-14G>T rs1785236527
NM_000535.7(PMS2):c.354-15G>T rs1250216615
NM_000535.7(PMS2):c.354-17C>G
NM_000535.7(PMS2):c.354-1G>A rs786203954
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.354-3C>G rs587782632
NM_000535.7(PMS2):c.354-3C>T rs587782632
NM_000535.7(PMS2):c.354-41_514del rs2128815961
NM_000535.7(PMS2):c.354-5C>T rs200591010
NM_000535.7(PMS2):c.354-7C>A rs758471869
NM_000535.7(PMS2):c.354-7C>G rs758471869
NM_000535.7(PMS2):c.354-9C>G rs2128819584
NM_000535.7(PMS2):c.354-9C>T rs2128819584
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr) rs587781913
NM_000535.7(PMS2):c.356A>G (p.Asp119Gly) rs2128819431
NM_000535.7(PMS2):c.358_365dup (p.Ile122fs)
NM_000535.7(PMS2):c.359T>C (p.Val120Ala) rs1060503139
NM_000535.7(PMS2):c.35C>A (p.Ala12Asp)
NM_000535.7(PMS2):c.35C>T (p.Ala12Val) rs1562702377
NM_000535.7(PMS2):c.360C>T (p.Val120=) rs767313783
NM_000535.7(PMS2):c.364A>G (p.Ile122Val) rs761748894
NM_000535.7(PMS2):c.364A>T (p.Ile122Phe) rs761748894
NM_000535.7(PMS2):c.366T>C (p.Ile122=) rs2128819275
NM_000535.7(PMS2):c.367dup (p.Ser123fs)
NM_000535.7(PMS2):c.368C>G (p.Ser123Cys) rs1562690595
NM_000535.7(PMS2):c.368del (p.Ser123fs) rs2128819251
NM_000535.7(PMS2):c.370A>G (p.Thr124Ala) rs1554304105
NM_000535.7(PMS2):c.371C>A (p.Thr124Asn) rs1034709810
NM_000535.7(PMS2):c.371C>T (p.Thr124Ile) rs1034709810
NM_000535.7(PMS2):c.372C>T (p.Thr124=) rs1060504836
NM_000535.7(PMS2):c.375C>A (p.Cys125Ter) rs1562690527
NM_000535.7(PMS2):c.375C>T (p.Cys125=) 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.379G>C (p.Ala127Pro)
NM_000535.7(PMS2):c.379G>T (p.Ala127Ser)
NM_000535.7(PMS2):c.37A>G (p.Lys13Glu)
NM_000535.7(PMS2):c.380C>G (p.Ala127Gly)
NM_000535.7(PMS2):c.380C>T (p.Ala127Val)
NM_000535.7(PMS2):c.380dup (p.Ser128fs)
NM_000535.7(PMS2):c.382T>C (p.Ser128Pro) rs1562690462
NM_000535.7(PMS2):c.383C>A (p.Ser128Ter) rs116373169
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.388_390delinsTGTAATTCCAGCCCAAAGTGCCTGTAATTCCAGCACTTTGGGAGGCCAAAGCGAGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCTGTCTCT (p.Lys130delinsCysAsnSerSerProLysCysLeuTer)
NM_000535.7(PMS2):c.390G>A (p.Lys130=)
NM_000535.7(PMS2):c.391G>T (p.Val131Phe) rs1583403963
NM_000535.7(PMS2):c.391del (p.Val131fs) rs2128818786
NM_000535.7(PMS2):c.394G>A (p.Gly132Arg)
NM_000535.7(PMS2):c.396A>C (p.Gly132=) rs786201073
NM_000535.7(PMS2):c.396A>G (p.Gly132=) rs786201073
NM_000535.7(PMS2):c.397_406del (p.Thr133fs)
NM_000535.7(PMS2):c.398C>A (p.Thr133Asn) rs1064794097
NM_000535.7(PMS2):c.398C>T (p.Thr133Ile) rs1064794097
NM_000535.7(PMS2):c.399T>G (p.Thr133=) rs1583403902
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.3G>C (p.Met1Ile) rs1554309086
NM_000535.7(PMS2):c.3G>T (p.Met1Ile) rs1554309086
NM_000535.7(PMS2):c.401G>A (p.Arg134Gln) rs771300829
NM_000535.7(PMS2):c.403C>A (p.Leu135Met)
NM_000535.7(PMS2):c.404T>C (p.Leu135Pro) rs2128818545
NM_000535.7(PMS2):c.405G>A (p.Leu135=)
NM_000535.7(PMS2):c.406A>C (p.Met136Leu) rs35690297
NM_000535.7(PMS2):c.406A>T (p.Met136Leu) rs35690297
NM_000535.7(PMS2):c.407T>A (p.Met136Lys)
NM_000535.7(PMS2):c.407T>C (p.Met136Thr) rs1554304050
NM_000535.7(PMS2):c.407del (p.Met136fs)
NM_000535.7(PMS2):c.409T>G (p.Phe137Val) rs1060503141
NM_000535.7(PMS2):c.40G>T (p.Ala14Ser) rs876661039
NM_000535.7(PMS2):c.414T>C (p.Asp138=) rs1785221660
NM_000535.7(PMS2):c.415C>G (p.His139Asp)
NM_000535.7(PMS2):c.415C>T (p.His139Tyr) rs1554304032
NM_000535.7(PMS2):c.416A>G (p.His139Arg) rs876658142
NM_000535.7(PMS2):c.417C>A (p.His139Gln) rs876659919
NM_000535.7(PMS2):c.417C>T (p.His139=) rs876659919
NM_000535.7(PMS2):c.419A>G (p.Asn140Ser) rs876661103
NM_000535.7(PMS2):c.41C>G (p.Ala14Gly) rs750524554
NM_000535.7(PMS2):c.41C>T (p.Ala14Val) rs750524554
NM_000535.7(PMS2):c.420T>A (p.Asn140Lys)
NM_000535.7(PMS2):c.422G>A (p.Gly141Glu) rs376931673
NM_000535.7(PMS2):c.423G>C (p.Gly141=) rs1583403657
NM_000535.7(PMS2):c.425A>T (p.Lys142Ile) rs2128818151
NM_000535.7(PMS2):c.426A>C (p.Lys142Asn) rs1785218841
NM_000535.7(PMS2):c.427A>G (p.Ile143Val) rs1785218471
NM_000535.7(PMS2):c.427del (p.Ile143fs)
NM_000535.7(PMS2):c.429T>C (p.Ile143=)
NM_000535.7(PMS2):c.429T>G (p.Ile143Met)
NM_000535.7(PMS2):c.42C>T (p.Ala14=)
NM_000535.7(PMS2):c.42del (p.Ile15fs) rs2128846824
NM_000535.7(PMS2):c.430A>G (p.Ile144Val) rs876659055
NM_000535.7(PMS2):c.431T>C (p.Ile144Thr) rs2128818030
NM_000535.7(PMS2):c.436A>G (p.Lys146Glu) rs1785215412
NM_000535.7(PMS2):c.439A>C (p.Thr147Pro) rs1583403496
NM_000535.7(PMS2):c.439A>G (p.Thr147Ala) rs1583403496
NM_000535.7(PMS2):c.43A>G (p.Ile15Val) rs878854051
NM_000535.7(PMS2):c.440C>A (p.Thr147Asn) rs1554304012
NM_000535.7(PMS2):c.440C>T (p.Thr147Ile)
NM_000535.7(PMS2):c.441C>T (p.Thr147=) rs1583403457
NM_000535.7(PMS2):c.442C>T (p.Pro148Ser) rs1554304009
NM_000535.7(PMS2):c.444C>G (p.Pro148=) rs1583403410
NM_000535.7(PMS2):c.444del (p.Tyr149fs)
NM_000535.7(PMS2):c.445T>A (p.Tyr149Asn) rs890029950
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.447C>T (p.Tyr149=) rs1224505288
NM_000535.7(PMS2):c.448C>T (p.Pro150Ser) rs1060503120
NM_000535.7(PMS2):c.449C>G (p.Pro150Arg) rs778119115
NM_000535.7(PMS2):c.450C>A (p.Pro150=) rs1554303987
NM_000535.7(PMS2):c.450C>T (p.Pro150=) rs1554303987
NM_000535.7(PMS2):c.451C>G (p.Arg151Gly) rs758561884
NM_000535.7(PMS2):c.451del (p.Arg151fs) rs1562689635
NM_000535.7(PMS2):c.451dup (p.Arg151fs) rs1562689635
NM_000535.7(PMS2):c.452G>C (p.Arg151Pro) rs35629870
NM_000535.7(PMS2):c.452_456del (p.Arg151fs) rs2128817368
NM_000535.7(PMS2):c.452_457delinsCCCC (p.Arg151fs)
NM_000535.7(PMS2):c.452_457delinsCCCCC (p.Arg151fs)
NM_000535.7(PMS2):c.453C>T (p.Arg151=) rs1583403159
NM_000535.7(PMS2):c.454C>A (p.Pro152Thr) rs2128817422
NM_000535.7(PMS2):c.456C>G (p.Pro152=)
NM_000535.7(PMS2):c.456C>T (p.Pro152=) rs1057522031
NM_000535.7(PMS2):c.457A>G (p.Arg153Gly) rs779013546
NM_000535.7(PMS2):c.457A>T (p.Arg153Ter)
NM_000535.7(PMS2):c.457del (p.Arg153fs) rs1785207289
NM_000535.7(PMS2):c.45C>T (p.Ile15=) rs876660499
NM_000535.7(PMS2):c.462G>A (p.Gly154=)
NM_000535.7(PMS2):c.464C>T (p.Thr155Ile) rs2128817131
NM_000535.7(PMS2):c.465C>A (p.Thr155=) rs863224369
NM_000535.7(PMS2):c.465C>G (p.Thr155=) rs863224369
NM_000535.7(PMS2):c.465C>T (p.Thr155=)
NM_000535.7(PMS2):c.466A>C (p.Thr156Pro) rs786204206
NM_000535.7(PMS2):c.467C>T (p.Thr156Ile) rs1554303953
NM_000535.7(PMS2):c.467_468del (p.Thr156fs)
NM_000535.7(PMS2):c.468A>G (p.Thr156=) rs1364918195
NM_000535.7(PMS2):c.468A>T (p.Thr156=) rs1364918195
NM_000535.7(PMS2):c.469G>A (p.Val157Ile) rs1554303946
NM_000535.7(PMS2):c.471C>A (p.Val157=) rs878854052
NM_000535.7(PMS2):c.472A>G (p.Ser158Gly) rs1554303942
NM_000535.7(PMS2):c.472A>T (p.Ser158Cys) rs1554303942
NM_000535.7(PMS2):c.473G>A (p.Ser158Asn) rs750354871
NM_000535.7(PMS2):c.474C>G (p.Ser158Arg) rs767414243
NM_000535.7(PMS2):c.475G>C (p.Val159Leu) rs142416537
NM_000535.7(PMS2):c.475G>T (p.Val159Leu) rs142416537
NM_000535.7(PMS2):c.478C>A (p.Gln160Lys) rs36038802
NM_000535.7(PMS2):c.478C>T (p.Gln160Ter) rs36038802
NM_000535.7(PMS2):c.47A>C (p.Lys16Thr)
NM_000535.7(PMS2):c.47A>T (p.Lys16Ile)
NM_000535.7(PMS2):c.480G>C (p.Gln160His)
NM_000535.7(PMS2):c.480G>T (p.Gln160His) rs1426242773
NM_000535.7(PMS2):c.481C>T (p.Gln161Ter)
NM_000535.7(PMS2):c.482A>C (p.Gln161Pro) rs1554303917
NM_000535.7(PMS2):c.483G>A (p.Gln161=) rs1193294479
NM_000535.7(PMS2):c.484T>A (p.Leu162Ile) rs1554303909
NM_000535.7(PMS2):c.484T>C (p.Leu162=) rs1554303909
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.486A>G (p.Leu162=)
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu) rs587780060
NM_000535.7(PMS2):c.487_497del (p.Phe163fs)
NM_000535.7(PMS2):c.493A>G (p.Thr165Ala) rs1554303902
NM_000535.7(PMS2):c.495A>G (p.Thr165=) rs1057520513
NM_000535.7(PMS2):c.498A>G (p.Leu166=) rs2128816347
NM_000535.7(PMS2):c.499C>G (p.Pro167Ala) rs2128816325
NM_000535.7(PMS2):c.499C>T (p.Pro167Ser)
NM_000535.7(PMS2):c.49C>G (p.Pro17Ala) rs552819358
NM_000535.7(PMS2):c.4G>C (p.Glu2Gln) rs1554309080
NM_000535.7(PMS2):c.4G>T (p.Glu2Ter) rs1554309080
NM_000535.7(PMS2):c.500C>G (p.Pro167Arg) rs1554303894
NM_000535.7(PMS2):c.500C>T (p.Pro167Leu) rs1554303894
NM_000535.7(PMS2):c.501T>C (p.Pro167=) rs1554303891
NM_000535.7(PMS2):c.501T>G (p.Pro167=) rs1554303891
NM_000535.7(PMS2):c.503dup (p.Arg169fs)
NM_000535.7(PMS2):c.504G>A (p.Val168=) rs878854053
NM_000535.7(PMS2):c.505C>T (p.Arg169Cys) rs730881916
NM_000535.7(PMS2):c.506G>T (p.Arg169Leu) rs730881917
NM_000535.7(PMS2):c.507C>T (p.Arg169=) rs1785194379
NM_000535.7(PMS2):c.508C>A (p.His170Asn) rs876661152
NM_000535.7(PMS2):c.509A>G (p.His170Arg) rs1583402418
NM_000535.7(PMS2):c.50C>G (p.Pro17Arg)
NM_000535.7(PMS2):c.512del (p.Lys171fs)
NM_000535.7(PMS2):c.514G>T (p.Glu172Ter)
NM_000535.7(PMS2):c.515A>T (p.Glu172Val)
NM_000535.7(PMS2):c.516A>T (p.Glu172Asp) rs1785191843
NM_000535.7(PMS2):c.519T>C (p.Phe173=) rs2128815882
NM_000535.7(PMS2):c.51_55del (p.Ile18fs)
NM_000535.7(PMS2):c.51del (p.Ile18fs) rs1785715961
NM_000535.7(PMS2):c.520C>G (p.Gln174Glu)
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter) rs1221485925
NM_000535.7(PMS2):c.521A>C (p.Gln174Pro)
NM_000535.7(PMS2):c.524G>A (p.Arg175Lys) rs1562688735
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>T (p.Arg175Ser) rs1554303870
NM_000535.7(PMS2):c.525_534del (p.Asn176fs) rs1785187053
NM_000535.7(PMS2):c.525del (p.Asn176fs) rs2128815756
NM_000535.7(PMS2):c.526A>G (p.Asn176Asp) rs1583402212
NM_000535.7(PMS2):c.527A>T (p.Asn176Ile) rs1785189018
NM_000535.7(PMS2):c.52A>T (p.Ile18Phe) rs63750123
NM_000535.7(PMS2):c.530T>C (p.Ile177Thr) rs769312937
NM_000535.7(PMS2):c.531T>C (p.Ile177=)
NM_000535.7(PMS2):c.531T>G (p.Ile177Met) rs863224679
NM_000535.7(PMS2):c.532AAG[1] (p.Lys179del) rs876661092
NM_000535.7(PMS2):c.534G>C (p.Lys178Asn)
NM_000535.7(PMS2):c.534G>T (p.Lys178Asn) rs1288953417
NM_000535.7(PMS2):c.535A>T (p.Lys179Ter) rs1554303861
NM_000535.7(PMS2):c.536A>T (p.Lys179Met)
NM_000535.7(PMS2):c.537+11T>C rs2128815303
NM_000535.7(PMS2):c.537+12T>G rs2128815288
NM_000535.7(PMS2):c.537+12_537+15del
NM_000535.7(PMS2):c.537+13_537+16del
NM_000535.7(PMS2):c.537+16C>A
NM_000535.7(PMS2):c.537+17C>G
NM_000535.7(PMS2):c.537+1G>A rs863224450
NM_000535.7(PMS2):c.537+1G>T
NM_000535.7(PMS2):c.537+1del rs1064793868
NM_000535.7(PMS2):c.537+20G>A rs2128815224
NM_000535.7(PMS2):c.537+20G>C rs2128815224
NM_000535.7(PMS2):c.537+2T>C
NM_000535.7(PMS2):c.537+3A>G rs876659939
NM_000535.7(PMS2):c.537+4C>G rs864622272
NM_000535.7(PMS2):c.537+5A>G rs1562688519
NM_000535.7(PMS2):c.537+7T>C rs1785183938
NM_000535.7(PMS2):c.537G>A (p.Lys179=) rs864622074
NM_000535.7(PMS2):c.538-12T>G rs1554302551
NM_000535.7(PMS2):c.538-12dup rs1455766004
NM_000535.7(PMS2):c.538-13_538-12del
NM_000535.7(PMS2):c.538-14T>C
NM_000535.7(PMS2):c.538-15G>C rs1554302558
NM_000535.7(PMS2):c.538-18T>C rs1554302567
NM_000535.7(PMS2):c.538-19G>C rs1057521526
NM_000535.7(PMS2):c.538-19_538-18del
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.538-3C>G rs1554302546
NM_000535.7(PMS2):c.538-478_705+456del
NM_000535.7(PMS2):c.538-4A>G
NM_000535.7(PMS2):c.538-5_538-4del rs1060504839
NM_000535.7(PMS2):c.538-65_589delinsGCAACATCCAATTGGT
NM_000535.7(PMS2):c.538-6A>C rs1784835616
NM_000535.7(PMS2):c.538-6A>G rs1784835616
NM_000535.7(PMS2):c.538-8T>C rs922948916
NM_000535.7(PMS2):c.538G>C (p.Glu180Gln) rs876660198
NM_000535.7(PMS2):c.538G>T (p.Glu180Ter)
NM_000535.7(PMS2):c.539A>C (p.Glu180Ala) rs1064793401
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.542A>T (p.Tyr181Phe) rs863224681
NM_000535.7(PMS2):c.543T>C (p.Tyr181=) rs1583387894
NM_000535.7(PMS2):c.543T>G (p.Tyr181Ter) rs1583387894
NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer) rs63751029
NM_000535.7(PMS2):c.544G>A (p.Ala182Thr) rs587779341
NM_000535.7(PMS2):c.545C>G (p.Ala182Gly) rs1562679272
NM_000535.7(PMS2):c.545C>T (p.Ala182Val) rs1562679272
NM_000535.7(PMS2):c.546C>G (p.Ala182=) rs1554302537
NM_000535.7(PMS2):c.546C>T (p.Ala182=) rs1554302537
NM_000535.7(PMS2):c.547A>T (p.Lys183Ter)
NM_000535.7(PMS2):c.549A>C (p.Lys183Asn) rs1784828441
NM_000535.7(PMS2):c.54T>C (p.Ile18=) rs878854054
NM_000535.7(PMS2):c.54del (p.Ile18fs)
NM_000535.7(PMS2):c.550A>G (p.Met184Val) rs1583387809
NM_000535.7(PMS2):c.550del (p.Met184fs)
NM_000535.7(PMS2):c.551T>C (p.Met184Thr) rs1583387794
NM_000535.7(PMS2):c.552G>T (p.Met184Ile) rs764853641
NM_000535.7(PMS2):c.553G>A (p.Val185Ile) rs1583387731
NM_000535.7(PMS2):c.553G>T (p.Val185Phe) rs1583387731
NM_000535.7(PMS2):c.554T>A (p.Val185Asp)
NM_000535.7(PMS2):c.554T>C (p.Val185Ala) rs2128802017
NM_000535.7(PMS2):c.555C>G (p.Val185=) rs759078497
NM_000535.7(PMS2):c.555C>T (p.Val185=) rs759078497
NM_000535.7(PMS2):c.558G>A (p.Gln186=)
NM_000535.7(PMS2):c.558G>C (p.Gln186His) rs769411134
NM_000535.7(PMS2):c.559G>T (p.Val187Phe)
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.563T>C (p.Leu188Ser)
NM_000535.7(PMS2):c.564dup (p.His189fs)
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.566A>G (p.His189Arg) rs876660330
NM_000535.7(PMS2):c.567T>C (p.His189=) rs876660433
NM_000535.7(PMS2):c.568G>A (p.Ala190Thr) rs1784822104
NM_000535.7(PMS2):c.569C>T (p.Ala190Val)
NM_000535.7(PMS2):c.56A>G (p.Asp19Gly) rs1554306564
NM_000535.7(PMS2):c.570A>G (p.Ala190=) rs1784821785
NM_000535.7(PMS2):c.571T>C (p.Tyr191His) rs1784821488
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.574T>C (p.Cys192Arg) rs773752935
NM_000535.7(PMS2):c.575G>C (p.Cys192Ser) rs772404945
NM_000535.7(PMS2):c.576T>C (p.Cys192=) rs1554302497
NM_000535.7(PMS2):c.577A>T (p.Ile193Phe) rs1784819145
NM_000535.7(PMS2):c.580A>G (p.Ile194Val) rs1554302492
NM_000535.7(PMS2):c.582T>G (p.Ile194Met) rs1554302490
NM_000535.7(PMS2):c.584C>A (p.Ser195Ter)
NM_000535.7(PMS2):c.584C>T (p.Ser195Leu) rs2128801488
NM_000535.7(PMS2):c.586G>A (p.Ala196Thr) rs1784818316
NM_000535.7(PMS2):c.586G>C (p.Ala196Pro) rs1784818316
NM_000535.7(PMS2):c.587C>G (p.Ala196Gly)
NM_000535.7(PMS2):c.587C>T (p.Ala196Val) rs1554302485
NM_000535.7(PMS2):c.58C>A (p.Arg20=) rs573374779
NM_000535.7(PMS2):c.58C>G (p.Arg20Gly) rs573374779
NM_000535.7(PMS2):c.590G>A (p.Gly197Asp) rs1260124992
NM_000535.7(PMS2):c.591C>A (p.Gly197=) rs748518694
NM_000535.7(PMS2):c.593T>C (p.Ile198Thr) rs2128801302
NM_000535.7(PMS2):c.596G>C (p.Arg199Pro) rs876658387
NM_000535.7(PMS2):c.596G>T (p.Arg199Leu)
NM_000535.7(PMS2):c.597T>C (p.Arg199=) rs2128801210
NM_000535.7(PMS2):c.598del (p.Arg199_Val200insTer)
NM_000535.7(PMS2):c.59G>C (p.Arg20Pro) rs10254120
NM_000535.7(PMS2):c.5A>G (p.Glu2Gly) rs876658233
NM_000535.7(PMS2):c.600A>C (p.Val200=) rs1583387143
NM_000535.7(PMS2):c.600A>G (p.Val200=) rs1583387143
NM_000535.7(PMS2):c.601A>G (p.Ser201Gly) rs1784814672
NM_000535.7(PMS2):c.602G>C (p.Ser201Thr) rs2128801100
NM_000535.7(PMS2):c.603T>C (p.Ser201=)
NM_000535.7(PMS2):c.605G>A (p.Cys202Tyr)
NM_000535.7(PMS2):c.605G>T (p.Cys202Phe)
NM_000535.7(PMS2):c.606C>T (p.Cys202=) rs1562678720
NM_000535.7(PMS2):c.607A>G (p.Thr203Ala) rs730881907
NM_000535.7(PMS2):c.608C>T (p.Thr203Ile) rs779946576
NM_000535.7(PMS2):c.609_610delinsGG (p.Asn204Asp) rs1554302457
NM_000535.7(PMS2):c.60G>A (p.Arg20=)
NM_000535.7(PMS2):c.60G>C (p.Arg20=) rs1554306548
NM_000535.7(PMS2):c.610A>C (p.Asn204His) rs746910555
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.614A>G (p.Gln205Arg) rs587779342
NM_000535.7(PMS2):c.614A>T (p.Gln205Leu) rs587779342
NM_000535.7(PMS2):c.615G>A (p.Gln205=) rs752499497
NM_000535.7(PMS2):c.615G>C (p.Gln205His) rs752499497
NM_000535.7(PMS2):c.616C>G (p.Leu206Val)
NM_000535.7(PMS2):c.617T>A (p.Leu206His) rs1784810263
NM_000535.7(PMS2):c.617T>C (p.Leu206Pro)
NM_000535.7(PMS2):c.618T>C (p.Leu206=) rs1554302439
NM_000535.7(PMS2):c.619G>A (p.Gly207Arg) rs368847322
NM_000535.7(PMS2):c.619G>C (p.Gly207Arg) rs368847322
NM_000535.7(PMS2):c.620G>C (p.Gly207Ala) rs374704824
NM_000535.7(PMS2):c.621A>G (p.Gly207=) rs2128800715
NM_000535.7(PMS2):c.622C>G (p.Gln208Glu) rs1784808623
NM_000535.7(PMS2):c.622C>T (p.Gln208Ter)
NM_000535.7(PMS2):c.623A>G (p.Gln208Arg) rs1554302423
NM_000535.7(PMS2):c.625G>A (p.Gly209Arg) rs1784808075
NM_000535.7(PMS2):c.627A>G (p.Gly209=) rs754540642
NM_000535.7(PMS2):c.628A>C (p.Lys210Gln)
NM_000535.7(PMS2):c.629A>C (p.Lys210Thr) rs753562256
NM_000535.7(PMS2):c.629A>G (p.Lys210Arg)
NM_000535.7(PMS2):c.630A>C (p.Lys210Asn)
NM_000535.7(PMS2):c.630del (p.Lys210fs) rs1784806713
NM_000535.7(PMS2):c.630dup (p.Arg211fs)
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.632G>C (p.Arg211Pro)
NM_000535.7(PMS2):c.632G>T (p.Arg211Leu) rs587781934
NM_000535.7(PMS2):c.633A>G (p.Arg211=)
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.635A>C (p.Gln212Pro) rs1583386594
NM_000535.7(PMS2):c.635A>G (p.Gln212Arg) rs1583386594
NM_000535.7(PMS2):c.636G>A (p.Gln212=) rs1784804225
NM_000535.7(PMS2):c.636G>C (p.Gln212His) rs1784804225
NM_000535.7(PMS2):c.637C>T (p.Pro213Ser)
NM_000535.7(PMS2):c.638C>G (p.Pro213Arg) rs1784803938
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.63G>T (p.Lys21Asn) rs772643900
NM_000535.7(PMS2):c.640G>A (p.Val214Met)
NM_000535.7(PMS2):c.641T>C (p.Val214Ala)
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.642G>A (p.Val214=) rs2128800346
NM_000535.7(PMS2):c.643G>C (p.Val215Leu) rs1064794017
NM_000535.7(PMS2):c.643G>T (p.Val215Leu)
NM_000535.7(PMS2):c.644T>C (p.Val215Ala) rs1554302383
NM_000535.7(PMS2):c.645A>G (p.Val215=) rs1221117740
NM_000535.7(PMS2):c.646T>C (p.Cys216Arg) rs371402182
NM_000535.7(PMS2):c.648C>A (p.Cys216Ter) rs762387250
NM_000535.7(PMS2):c.648C>T (p.Cys216=) rs762387250
NM_000535.7(PMS2):c.649A>C (p.Thr217Pro) rs1784800451
NM_000535.7(PMS2):c.649A>G (p.Thr217Ala) rs1784800451
NM_000535.7(PMS2):c.650C>A (p.Thr217Lys)
NM_000535.7(PMS2):c.651A>G (p.Thr217=) rs2128800145
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.655G>A (p.Gly219Arg)
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter) rs1064796190
NM_000535.7(PMS2):c.656G>A (p.Gly219Glu) rs749431015
NM_000535.7(PMS2):c.658A>G (p.Ser220Gly) rs2128800007
NM_000535.7(PMS2):c.659G>C (p.Ser220Thr)
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.65C>T (p.Ser22Leu) rs767028531
NM_000535.7(PMS2):c.660C>T (p.Ser220=)
NM_000535.7(PMS2):c.661C>T (p.Pro221Ser)
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.663C>G (p.Pro221=)
NM_000535.7(PMS2):c.663C>T (p.Pro221=) rs878854057
NM_000535.7(PMS2):c.663del (p.Ser222fs) rs2128799910
NM_000535.7(PMS2):c.664A>G (p.Ser222Gly)
NM_000535.7(PMS2):c.665G>C (p.Ser222Thr)
NM_000535.7(PMS2):c.665G>T (p.Ser222Ile) rs560462942
NM_000535.7(PMS2):c.666C>G (p.Ser222Arg) rs1784796294
NM_000535.7(PMS2):c.667A>C (p.Ile223Leu) rs876660067
NM_000535.7(PMS2):c.668T>A (p.Ile223Lys)
NM_000535.7(PMS2):c.668T>C (p.Ile223Thr)
NM_000535.7(PMS2):c.669A>C (p.Ile223=) rs2128799778
NM_000535.7(PMS2):c.66_69del (p.Val23fs)
NM_000535.7(PMS2):c.670A>G (p.Lys224Glu) rs1784795307
NM_000535.7(PMS2):c.671A>G (p.Lys224Arg)
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.673G>C (p.Glu225Gln) rs1562677770
NM_000535.7(PMS2):c.673G>T (p.Glu225Ter) rs1562677770
NM_000535.7(PMS2):c.674A>G (p.Glu225Gly) rs2128799688
NM_000535.7(PMS2):c.675A>G (p.Glu225=) rs876661233
NM_000535.7(PMS2):c.676A>G (p.Asn226Asp) rs587782791
NM_000535.7(PMS2):c.677A>G (p.Asn226Ser) rs778534735
NM_000535.7(PMS2):c.678_681dup (p.Gly228fs) rs1562677687
NM_000535.7(PMS2):c.679A>G (p.Ile227Val) rs1554302326
NM_000535.7(PMS2):c.67G>A (p.Val23Ile)
NM_000535.7(PMS2):c.680T>C (p.Ile227Thr)
NM_000535.7(PMS2):c.680T>G (p.Ile227Ser) rs1583385976
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.684C>T (p.Gly228=) rs371876208
NM_000535.7(PMS2):c.685T>C (p.Ser229Pro) rs730881909
NM_000535.7(PMS2):c.686_687del (p.Ser229fs) rs746766787
NM_000535.7(PMS2):c.688G>A (p.Val230Met) rs1562677528
NM_000535.7(PMS2):c.689T>A (p.Val230Glu) rs1583385769
NM_000535.7(PMS2):c.689_690delinsAT (p.Val230Asp)
NM_000535.7(PMS2):c.68T>G (p.Val23Gly) rs1060503114
NM_000535.7(PMS2):c.68_69del (p.Val23fs)
NM_000535.7(PMS2):c.690G>A (p.Val230=) rs749871098
NM_000535.7(PMS2):c.690G>C (p.Val230=) rs749871098
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.691_694del (p.Phe231fs) rs1784787989
NM_000535.7(PMS2):c.692T>C (p.Phe231Ser)
NM_000535.7(PMS2):c.694G>C (p.Gly232Arg) rs1266098796
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.7(PMS2):c.695G>C (p.Gly232Ala) rs201811667
NM_000535.7(PMS2):c.696G>A (p.Gly232=)
NM_000535.7(PMS2):c.696G>T (p.Gly232=) rs1358310474
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.698A>G (p.Gln233Arg) rs1784786188
NM_000535.7(PMS2):c.69C>T (p.Val23=)
NM_000535.7(PMS2):c.700A>G (p.Lys234Glu) rs1554302295
NM_000535.7(PMS2):c.703C>G (p.Gln235Glu) rs63750261
NM_000535.7(PMS2):c.703C>T (p.Gln235Ter) rs63750261
NM_000535.7(PMS2):c.704A>C (p.Gln235Pro) rs2128798976
NM_000535.7(PMS2):c.705+10del
NM_000535.7(PMS2):c.705+11C>G
NM_000535.7(PMS2):c.705+13G>T
NM_000535.7(PMS2):c.705+17A>C rs62456182
NM_000535.7(PMS2):c.705+1G>A rs267608147
NM_000535.7(PMS2):c.705+1G>C rs267608147
NM_000535.7(PMS2):c.705+1G>T rs267608147
NM_000535.7(PMS2):c.705+20T>A
NM_000535.7(PMS2):c.705+2T>C rs1784783734
NM_000535.7(PMS2):c.705+4G>C rs1784783143
NM_000535.7(PMS2):c.705+5T>C rs763422964
NM_000535.7(PMS2):c.705+5T>G
NM_000535.7(PMS2):c.705+6G>A rs2128798888
NM_000535.7(PMS2):c.705+7A>G
NM_000535.7(PMS2):c.705+9G>A
NM_000535.7(PMS2):c.705G>A (p.Gln235=) rs876660872
NM_000535.7(PMS2):c.705G>C (p.Gln235His) rs876660872
NM_000535.7(PMS2):c.706-10T>C rs1554301593
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>A rs1202370194
NM_000535.7(PMS2):c.706-1G>T
NM_000535.7(PMS2):c.706-2A>T rs745487791
NM_000535.7(PMS2):c.706-3C>A rs1229860023
NM_000535.7(PMS2):c.706-3delinsTA rs1436961952
NM_000535.7(PMS2):c.706-3dup
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.706-73_748del
NM_000535.7(PMS2):c.706-7T>G rs1459714978
NM_000535.7(PMS2):c.706-7_706-6insG rs570998668
NM_000535.7(PMS2):c.706-8T>G
NM_000535.7(PMS2):c.706T>C (p.Leu236=) rs2128788793
NM_000535.7(PMS2):c.708G>A (p.Leu236=) rs201395630
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.709C>G (p.Gln237Glu)
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu) rs587780061
NM_000535.7(PMS2):c.710_714del (p.Gln237fs) rs1784546407
NM_000535.7(PMS2):c.712A>G (p.Ser238Gly) rs1060503149
NM_000535.7(PMS2):c.712A>T (p.Ser238Cys)
NM_000535.7(PMS2):c.713del (p.Ser238fs) rs2128788650
NM_000535.7(PMS2):c.715C>G (p.Leu239Val) rs1554301543
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.717C>A (p.Leu239=) rs7809954
NM_000535.7(PMS2):c.717_723dup (p.Phe242fs) rs1583375182
NM_000535.7(PMS2):c.718A>T (p.Ile240Phe) rs746592049
NM_000535.7(PMS2):c.719T>A (p.Ile240Asn)
NM_000535.7(PMS2):c.71A>G (p.His24Arg) rs139233015
NM_000535.7(PMS2):c.71A>T (p.His24Leu) rs139233015
NM_000535.7(PMS2):c.720T>C (p.Ile240=) rs777148436
NM_000535.7(PMS2):c.721C>A (p.Pro241Thr)
NM_000535.7(PMS2):c.721C>G (p.Pro241Ala) rs779411667
NM_000535.7(PMS2):c.722C>G (p.Pro241Arg) rs1554301523
NM_000535.7(PMS2):c.722C>T (p.Pro241Leu) rs1554301523
NM_000535.7(PMS2):c.723T>A (p.Pro241=) rs1554301521
NM_000535.7(PMS2):c.726T>A (p.Phe242Leu) rs1346863182
NM_000535.7(PMS2):c.726del (p.Phe242fs) rs1583375132
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>G (p.Gln244Glu) rs1562671039
NM_000535.7(PMS2):c.730C>T (p.Gln244Ter) rs1562671039
NM_000535.7(PMS2):c.731A>G (p.Gln244Arg)
NM_000535.7(PMS2):c.732del (p.Gln244fs) rs2128788235
NM_000535.7(PMS2):c.733_741delinsGCTGTGCTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer) rs1554301495
NM_000535.7(PMS2):c.733_741delinsGCTGTGTTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer) rs1554301495
NM_000535.7(PMS2):c.735dup (p.Pro246fs) rs2128788145
NM_000535.7(PMS2):c.736C>A (p.Pro246Thr) rs765668173
NM_000535.7(PMS2):c.736C>T (p.Pro246Ser) 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.738C>A (p.Pro246=)
NM_000535.7(PMS2):c.738C>T (p.Pro246=) rs202094399
NM_000535.7(PMS2):c.739C>A (p.Pro247Thr) rs878854058
NM_000535.7(PMS2):c.739C>G (p.Pro247Ala) rs878854058
NM_000535.7(PMS2):c.739C>T (p.Pro247Ser) rs878854058
NM_000535.7(PMS2):c.740dup (p.Pro247_Ser248insTer)
NM_000535.7(PMS2):c.741T>C (p.Pro247=)
NM_000535.7(PMS2):c.741_742insGTGTGAAG (p.Ser248delinsValTer)
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.744T>A (p.Ser248Arg) rs1554301489
NM_000535.7(PMS2):c.744T>G (p.Ser248Arg) rs1554301489
NM_000535.7(PMS2):c.745G>C (p.Asp249His) rs1244322338
NM_000535.7(PMS2):c.746_753del (p.Asp249fs) rs587782710
NM_000535.7(PMS2):c.746_755del (p.Asp249fs)
NM_000535.7(PMS2):c.747C>T (p.Asp249=) rs2128787680
NM_000535.7(PMS2):c.748_749del (p.Ser250fs) rs1554301486
NM_000535.7(PMS2):c.749C>G (p.Ser250Cys) rs2128787602
NM_000535.7(PMS2):c.750del (p.Val251fs)
NM_000535.7(PMS2):c.751G>C (p.Val251Leu) rs142434011
NM_000535.7(PMS2):c.751G>T (p.Val251Leu) rs142434011
NM_000535.7(PMS2):c.753G>A (p.Val251=) rs762836049
NM_000535.7(PMS2):c.753G>C (p.Val251=)
NM_000535.7(PMS2):c.753G>T (p.Val251=) rs762836049
NM_000535.7(PMS2):c.754T>A (p.Cys252Ser)
NM_000535.7(PMS2):c.754T>C (p.Cys252Arg) rs1784532607
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.758A>C (p.Glu253Ala) rs876661002
NM_000535.7(PMS2):c.759A>G (p.Glu253=) rs745720298
NM_000535.7(PMS2):c.759_764del (p.Glu253_Tyr255delinsAsp) rs1562670309
NM_000535.7(PMS2):c.75G>A (p.Gln25=) rs1554306525
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.761A>G (p.Glu254Gly) rs1784530360
NM_000535.7(PMS2):c.761A>T (p.Glu254Val)
NM_000535.7(PMS2):c.762G>T (p.Glu254Asp) rs1784530093
NM_000535.7(PMS2):c.763T>A (p.Tyr255Asn) rs1554301471
NM_000535.7(PMS2):c.764A>G (p.Tyr255Cys) rs1268217925
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter) rs573125799
NM_000535.7(PMS2):c.765C>G (p.Tyr255Ter)
NM_000535.7(PMS2):c.766G>C (p.Gly256Arg) rs587782633
NM_000535.7(PMS2):c.767G>A (p.Gly256Asp)
NM_000535.7(PMS2):c.767del (p.Gly256fs)
NM_000535.7(PMS2):c.768T>C (p.Gly256=) rs876660396
NM_000535.7(PMS2):c.769T>C (p.Leu257=) rs1304403166
NM_000535.7(PMS2):c.769_778del (p.Leu257fs)
NM_000535.7(PMS2):c.76A>C (p.Ile26Leu) rs1412094620
NM_000535.7(PMS2):c.76A>T (p.Ile26Phe) rs1412094620
NM_000535.7(PMS2):c.770T>C (p.Leu257Ser) rs1554301463
NM_000535.7(PMS2):c.770T>G (p.Leu257Trp) rs1554301463
NM_000535.7(PMS2):c.772A>G (p.Ser258Gly) rs2128787031
NM_000535.7(PMS2):c.773G>A (p.Ser258Asn) rs587780727
NM_000535.7(PMS2):c.774C>G (p.Ser258Arg) rs1784526585
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.775T>C (p.Cys259Arg) rs1554301455
NM_000535.7(PMS2):c.776G>A (p.Cys259Tyr)
NM_000535.7(PMS2):c.776G>C (p.Cys259Ser)
NM_000535.7(PMS2):c.778_780delinsACG (p.Ser260Thr)
NM_000535.7(PMS2):c.779C>A (p.Ser260Tyr) rs777286241
NM_000535.7(PMS2):c.779C>G (p.Ser260Cys) rs777286241
NM_000535.7(PMS2):c.779_780delinsAG (p.Ser260Ter) rs730881920
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.780_781delinsGA (p.Asp261Asn) rs1784522955
NM_000535.7(PMS2):c.780del (p.Asp261fs) rs587779344
NM_000535.7(PMS2):c.781G>A (p.Asp261Asn) rs1060503150
NM_000535.7(PMS2):c.781del (p.Asp261fs)
NM_000535.7(PMS2):c.782A>G (p.Asp261Gly) rs1562669887
NM_000535.7(PMS2):c.784G>A (p.Ala262Thr) rs779625900
NM_000535.7(PMS2):c.784G>T (p.Ala262Ser) rs779625900
NM_000535.7(PMS2):c.787C>G (p.Leu263Val) rs587779345
NM_000535.7(PMS2):c.787C>T (p.Leu263=) rs587779345
NM_000535.7(PMS2):c.787del (p.Leu263fs)
NM_000535.7(PMS2):c.789G>A (p.Leu263=) rs755394319
NM_000535.7(PMS2):c.789_790delinsTT (p.His264Tyr)
NM_000535.7(PMS2):c.790C>T (p.His264Tyr) rs2128786522
NM_000535.7(PMS2):c.790_803+5del
NM_000535.7(PMS2):c.791A>C (p.His264Pro) rs1060503129
NM_000535.7(PMS2):c.792T>G (p.His264Gln) rs1554301398
NM_000535.7(PMS2):c.793_803+7del
NM_000535.7(PMS2):c.796C>G (p.Leu266Val) rs1583373747
NM_000535.7(PMS2):c.796_797del (p.Leu266fs)
NM_000535.7(PMS2):c.79del (p.Cys27fs)
NM_000535.7(PMS2):c.7C>G (p.Arg3Gly)
NM_000535.7(PMS2):c.7C>T (p.Arg3Ter) rs763939668
NM_000535.7(PMS2):c.800T>G (p.Phe267Cys)
NM_000535.7(PMS2):c.801T>G (p.Phe267Leu) rs1554301382
NM_000535.7(PMS2):c.802T>C (p.Tyr268His) rs1583373654
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+5G>A rs939641251
NM_000535.7(PMS2):c.803+8G>T rs2128786200
NM_000535.7(PMS2):c.803+9A>C
NM_000535.7(PMS2):c.804-10T>C
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.804-13T>A rs1562664935
NM_000535.7(PMS2):c.804-13T>C rs1562664935
NM_000535.7(PMS2):c.804-13T>G rs1562664935
NM_000535.7(PMS2):c.804-14T>C
NM_000535.7(PMS2):c.804-16T>C rs1264781818
NM_000535.7(PMS2):c.804-17A>G
NM_000535.7(PMS2):c.804-18C>T rs749782840
NM_000535.7(PMS2):c.804-19C>A
NM_000535.7(PMS2):c.804-19C>T
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.804-20dup
NM_000535.7(PMS2):c.804-3T>C rs1562664868
NM_000535.7(PMS2):c.804-3T>G rs1562664868
NM_000535.7(PMS2):c.804-4A>C rs1475598645
NM_000535.7(PMS2):c.804-4A>G rs1475598645
NM_000535.7(PMS2):c.804-7T>C rs2128776567
NM_000535.7(PMS2):c.804-8T>C rs1562664890
NM_000535.7(PMS2):c.804-9G>A rs780427536
NM_000535.7(PMS2):c.804-9G>T
NM_000535.7(PMS2):c.805A>G (p.Ile269Val) rs1554300825
NM_000535.7(PMS2):c.807C>G (p.Ile269Met) rs1784316728
NM_000535.7(PMS2):c.807C>T (p.Ile269=) rs1784316728
NM_000535.7(PMS2):c.80G>A (p.Cys27Tyr) rs2128845886
NM_000535.7(PMS2):c.80G>T (p.Cys27Phe) rs2128845886
NM_000535.7(PMS2):c.811G>A (p.Gly271Ser) rs1583364895
NM_000535.7(PMS2):c.811G>C (p.Gly271Arg)
NM_000535.7(PMS2):c.812G>A (p.Gly271Asp) rs1583364867
NM_000535.7(PMS2):c.817A>G (p.Ile273Val) rs587778621
NM_000535.7(PMS2):c.821C>G (p.Ser274Ter)
NM_000535.7(PMS2):c.821C>T (p.Ser274Leu)
NM_000535.7(PMS2):c.822A>G (p.Ser274=) rs1583364821
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.827G>A (p.Cys276Tyr) rs1554300806
NM_000535.7(PMS2):c.828C>A (p.Cys276Ter) rs757324104
NM_000535.7(PMS2):c.828C>T (p.Cys276=) rs757324104
NM_000535.7(PMS2):c.829A>T (p.Thr277Ser) rs1583364586
NM_000535.7(PMS2):c.82T>G (p.Ser28Ala) rs587781908
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.832C>A (p.His278Asn) rs1554300796
NM_000535.7(PMS2):c.833A>C (p.His278Pro) rs1562664434
NM_000535.7(PMS2):c.833A>G (p.His278Arg) rs1562664434
NM_000535.7(PMS2):c.834T>A (p.His278Gln) rs2128776000
NM_000535.7(PMS2):c.836G>A (p.Gly279Glu) rs587782668
NM_000535.7(PMS2):c.836G>T (p.Gly279Val) rs587782668
NM_000535.7(PMS2):c.838G>A (p.Val280Ile)
NM_000535.7(PMS2):c.838G>T (p.Val280Phe)
NM_000535.7(PMS2):c.839T>A (p.Val280Asp) rs1159880186
NM_000535.7(PMS2):c.83C>T (p.Ser28Phe) rs1785707505
NM_000535.7(PMS2):c.841G>A (p.Gly281Arg) rs1784309424
NM_000535.7(PMS2):c.841G>T (p.Gly281Ter)
NM_000535.7(PMS2):c.842G>A (p.Gly281Glu) rs2128775853
NM_000535.7(PMS2):c.845G>A (p.Arg282Lys) rs2128775792
NM_000535.7(PMS2):c.846G>C (p.Arg282Ser)
NM_000535.7(PMS2):c.846_848del (p.Arg282del) rs776688670
NM_000535.7(PMS2):c.846del (p.Ser283fs) rs1057515571
NM_000535.7(PMS2):c.849T>A (p.Ser283Arg) rs1277038817
NM_000535.7(PMS2):c.849T>C (p.Ser283=) rs1277038817
NM_000535.7(PMS2):c.849_850inv (p.Ser283_Ser284delinsArgThr)
NM_000535.7(PMS2):c.850T>C (p.Ser284Pro)
NM_000535.7(PMS2):c.851C>G (p.Ser284Ter) rs587782898
NM_000535.7(PMS2):c.851C>T (p.Ser284Leu) rs587782898
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer) rs876658964
NM_000535.7(PMS2):c.852A>C (p.Ser284=)
NM_000535.7(PMS2):c.852_855del (p.Arg287fs)
NM_000535.7(PMS2):c.853A>G (p.Thr285Ala) rs760448660
NM_000535.7(PMS2):c.854C>A (p.Thr285Lys) rs1583364029
NM_000535.7(PMS2):c.854C>T (p.Thr285Ile) rs1583364029
NM_000535.7(PMS2):c.856G>C (p.Asp286His)
NM_000535.7(PMS2):c.856_861del (p.Asp286_Arg287del) rs2128775321
NM_000535.7(PMS2):c.857A>T (p.Asp286Val)
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.859A>G (p.Arg287Gly) rs876658712
NM_000535.7(PMS2):c.859dup (p.Arg287fs) rs1554300763
NM_000535.7(PMS2):c.85G>A (p.Gly29Arg) rs1583419271
NM_000535.7(PMS2):c.860G>A (p.Arg287Lys) rs1060503122
NM_000535.7(PMS2):c.860dup (p.Gln288fs) rs2128775362
NM_000535.7(PMS2):c.861A>G (p.Arg287=)
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.864G>A (p.Gln288=) rs990212889
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.865T>G (p.Phe289Val) rs771787834
NM_000535.7(PMS2):c.868T>C (p.Phe290Leu) rs587782833
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.869del (p.Phe290fs) rs2128775109
NM_000535.7(PMS2):c.870C>G (p.Phe290Leu)
NM_000535.7(PMS2):c.870del (p.Phe291fs) rs1784299649
NM_000535.7(PMS2):c.873T>C (p.Phe291=)
NM_000535.7(PMS2):c.873del (p.Phe291fs) rs1261282733
NM_000535.7(PMS2):c.874A>G (p.Ile292Val) rs587781281
NM_000535.7(PMS2):c.874A>T (p.Ile292Phe) rs587781281
NM_000535.7(PMS2):c.877A>T (p.Asn293Tyr) rs530993704
NM_000535.7(PMS2):c.878A>C (p.Asn293Thr) rs1274671450
NM_000535.7(PMS2):c.878dup (p.Asn293fs) rs1344095646
NM_000535.7(PMS2):c.87G>T (p.Gly29=) rs876659642
NM_000535.7(PMS2):c.884G>C (p.Arg295Pro)
NM_000535.7(PMS2):c.884G>T (p.Arg295Leu)
NM_000535.7(PMS2):c.885G>T (p.Arg295=) rs786201615
NM_000535.7(PMS2):c.886C>G (p.Pro296Ala) rs375553553
NM_000535.7(PMS2):c.887C>A (p.Pro296His) rs1562663523
NM_000535.7(PMS2):c.887C>T (p.Pro296Leu) rs1562663523
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>A (p.Cys297Tyr) rs869312802
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.894C>A (p.Asp298Glu)
NM_000535.7(PMS2):c.895C>A (p.Pro299Thr) rs1562663421
NM_000535.7(PMS2):c.896C>G (p.Pro299Arg) rs1402108044
NM_000535.7(PMS2):c.896C>T (p.Pro299Leu) rs1402108044
NM_000535.7(PMS2):c.898G>C (p.Ala300Pro) rs771561768
NM_000535.7(PMS2):c.899C>T (p.Ala300Val) rs1554300702
NM_000535.7(PMS2):c.8G>C (p.Arg3Pro) rs375507981
NM_000535.7(PMS2):c.8G>T (p.Arg3Leu) rs375507981
NM_000535.7(PMS2):c.902dup (p.Val302fs) rs1784291698
NM_000535.7(PMS2):c.903+10A>T rs2128774146
NM_000535.7(PMS2):c.903+10del rs1562663219
NM_000535.7(PMS2):c.903+11T>A rs766296823
NM_000535.7(PMS2):c.903+12T>A
NM_000535.7(PMS2):c.903+13T>G
NM_000535.7(PMS2):c.903+17T>A rs1784288209
NM_000535.7(PMS2):c.903+17del
NM_000535.7(PMS2):c.903+17dup rs1562663194
NM_000535.7(PMS2):c.903+18G>C
NM_000535.7(PMS2):c.903+18G>T
NM_000535.7(PMS2):c.903+19T>C
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+20G>T rs750189082
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.903+4T>C rs753803330
NM_000535.7(PMS2):c.903+5T>A rs1419635604
NM_000535.7(PMS2):c.903+5T>C rs1419635604
NM_000535.7(PMS2):c.903+5T>G
NM_000535.7(PMS2):c.903+6T>C rs1784289590
NM_000535.7(PMS2):c.903+8A>T rs1554300686
NM_000535.7(PMS2):c.903+9A>C rs1583363044
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.904-10T>C
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.904-15_904-14del
NM_000535.7(PMS2):c.904-16C>T
NM_000535.7(PMS2):c.904-17C>T
NM_000535.7(PMS2):c.904-17_904-15del rs749482906
NM_000535.7(PMS2):c.904-18T>C rs2128756604
NM_000535.7(PMS2):c.904-18_904-16delinsGAG
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.904-3C>T
NM_000535.7(PMS2):c.904-6G>A rs1172293746
NM_000535.7(PMS2):c.904-6G>T rs1172293746
NM_000535.7(PMS2):c.904-7T>C rs2128756503
NM_000535.7(PMS2):c.904G>A (p.Val302Ile) rs755960629
NM_000535.7(PMS2):c.906C>T (p.Val302=) rs2128756399
NM_000535.7(PMS2):c.909C>A (p.Cys303Ter)
NM_000535.7(PMS2):c.909C>T (p.Cys303=) rs1199497563
NM_000535.7(PMS2):c.90G>A (p.Gln30=)
NM_000535.7(PMS2):c.910A>C (p.Arg304=)
NM_000535.7(PMS2):c.910A>G (p.Arg304Gly) rs1583345773
NM_000535.7(PMS2):c.911G>A (p.Arg304Lys) rs1562652035
NM_000535.7(PMS2):c.912A>G (p.Arg304=) rs1490717599
NM_000535.7(PMS2):c.912A>T (p.Arg304Ser)
NM_000535.7(PMS2):c.913C>T (p.Leu305Phe) rs750420143
NM_000535.7(PMS2):c.914T>A (p.Leu305His)
NM_000535.7(PMS2):c.914T>G (p.Leu305Arg) rs1583345706
NM_000535.7(PMS2):c.915C>G (p.Leu305=) rs767392742
NM_000535.7(PMS2):c.916G>C (p.Val306Leu) rs587780063
NM_000535.7(PMS2):c.917T>A (p.Val306Glu) rs786201878
NM_000535.7(PMS2):c.919A>G (p.Asn307Asp)
NM_000535.7(PMS2):c.91G>A (p.Val31Met) rs786203763
NM_000535.7(PMS2):c.91G>T (p.Val31Leu) rs786203763
NM_000535.7(PMS2):c.920A>C (p.Asn307Thr) rs1583345602
NM_000535.7(PMS2):c.920A>G (p.Asn307Ser) rs1583345602
NM_000535.7(PMS2):c.921T>G (p.Asn307Lys) rs587779346
NM_000535.7(PMS2):c.922G>A (p.Glu308Lys) rs587781358
NM_000535.7(PMS2):c.923A>C (p.Glu308Ala) rs1305296572
NM_000535.7(PMS2):c.925G>A (p.Val309Ile) rs763718441
NM_000535.7(PMS2):c.925G>T (p.Val309Phe) rs763718441
NM_000535.7(PMS2):c.927C>T (p.Val309=) rs2128755961
NM_000535.7(PMS2):c.928T>C (p.Tyr310His) rs2128755950
NM_000535.7(PMS2):c.929A>G (p.Tyr310Cys) rs372172981
NM_000535.7(PMS2):c.929A>T (p.Tyr310Phe) rs372172981
NM_000535.7(PMS2):c.92_99del (p.Val31fs) rs2128845440
NM_000535.7(PMS2):c.930C>T (p.Tyr310=) rs1405625567
NM_000535.7(PMS2):c.931C>G (p.His311Asp)
NM_000535.7(PMS2):c.931C>T (p.His311Tyr) rs2128755904
NM_000535.7(PMS2):c.933C>G (p.His311Gln) rs1057521069
NM_000535.7(PMS2):c.933C>T (p.His311=) rs1057521069
NM_000535.7(PMS2):c.934A>T (p.Met312Leu) rs786202567
NM_000535.7(PMS2):c.935T>C (p.Met312Thr) rs530021751
NM_000535.7(PMS2):c.938A>C (p.Tyr313Ser) rs587782513
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.93G>A (p.Val31=)
NM_000535.7(PMS2):c.93G>T (p.Val31=) rs2128845564
NM_000535.7(PMS2):c.942T>A (p.Asn314Lys)
NM_000535.7(PMS2):c.943C>G (p.Arg315Gly) rs200640585
NM_000535.7(PMS2):c.944G>T (p.Arg315Leu)
NM_000535.7(PMS2):c.946C>T (p.His316Tyr) rs2128755632
NM_000535.7(PMS2):c.947_948del (p.His316fs) rs878854060
NM_000535.7(PMS2):c.948C>A (p.His316Gln) rs1219573982
NM_000535.7(PMS2):c.948C>G (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.950A>G (p.Gln317Arg) rs537024768
NM_000535.7(PMS2):c.951G>A (p.Gln317=) rs1783798592
NM_000535.7(PMS2):c.954T>A (p.Tyr318Ter) rs2128755485
NM_000535.7(PMS2):c.954T>C (p.Tyr318=)
NM_000535.7(PMS2):c.955C>A (p.Pro319Thr) rs1248142939
NM_000535.7(PMS2):c.955C>T (p.Pro319Ser) rs1248142939
NM_000535.7(PMS2):c.956C>G (p.Pro319Arg) rs1562651380
NM_000535.7(PMS2):c.956C>T (p.Pro319Leu) rs1562651380
NM_000535.7(PMS2):c.957A>G (p.Pro319=) rs2128755431
NM_000535.7(PMS2):c.959T>C (p.Phe320Ser) rs1060503121
NM_000535.7(PMS2):c.959T>G (p.Phe320Cys) rs1060503121
NM_000535.7(PMS2):c.95T>C (p.Val32Ala)
NM_000535.7(PMS2):c.960del (p.Phe320fs)
NM_000535.7(PMS2):c.961GTT[1] (p.Val322del)
NM_000535.7(PMS2):c.964G>T (p.Val322Phe) rs587782208
NM_000535.7(PMS2):c.967C>G (p.Leu323Val) rs1554299391
NM_000535.7(PMS2):c.969T>A (p.Leu323=) rs1583344922
NM_000535.7(PMS2):c.969T>G (p.Leu323=) rs1583344922
NM_000535.7(PMS2):c.96A>C (p.Val32=) rs746089731
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.971A>C (p.Asn324Thr) rs1554299388
NM_000535.7(PMS2):c.971A>G (p.Asn324Ser) rs1554299388
NM_000535.7(PMS2):c.972C>G (p.Asn324Lys) rs182085259
NM_000535.7(PMS2):c.972del (p.Asn324fs)
NM_000535.7(PMS2):c.973A>G (p.Ile325Val)
NM_000535.7(PMS2):c.975T>G (p.Ile325Met) rs1583344828
NM_000535.7(PMS2):c.976T>C (p.Ser326Pro) rs2128755123
NM_000535.7(PMS2):c.977C>G (p.Ser326Cys) rs2128755117
NM_000535.7(PMS2):c.979G>A (p.Val327Ile) rs1257825900
NM_000535.7(PMS2):c.979G>C (p.Val327Leu) rs1257825900
NM_000535.7(PMS2):c.97C>T (p.Leu33=) rs878854061
NM_000535.7(PMS2):c.982G>A (p.Asp328Asn)
NM_000535.7(PMS2):c.984T>C (p.Asp328=) rs2128755014
NM_000535.7(PMS2):c.986C>A (p.Ser329Ter) rs1461669945
NM_000535.7(PMS2):c.986C>G (p.Ser329Ter) rs1461669945
NM_000535.7(PMS2):c.986C>T (p.Ser329Leu) rs1461669945
NM_000535.7(PMS2):c.987A>G (p.Ser329=) rs1783788450
NM_000535.7(PMS2):c.987dup (p.Glu330fs) rs2128754982
NM_000535.7(PMS2):c.988+10_988+11insCCC rs2128754830
NM_000535.7(PMS2):c.988+16A>G
NM_000535.7(PMS2):c.988+1G>C rs757110564
NM_000535.7(PMS2):c.988+1G>T rs757110564
NM_000535.7(PMS2):c.988+20C>T
NM_000535.7(PMS2):c.988+3A>G rs751329878
NM_000535.7(PMS2):c.988+4A>C rs763959308
NM_000535.7(PMS2):c.988+5G>A rs1783785796
NM_000535.7(PMS2):c.988+8C>A rs2128754860
NM_000535.7(PMS2):c.988+8C>T
NM_000535.7(PMS2):c.988+9C>T rs1783785508
NM_000535.7(PMS2):c.989-107_989-106insA
NM_000535.7(PMS2):c.989-11T>A
NM_000535.7(PMS2):c.989-11T>G
NM_000535.7(PMS2):c.989-14C>G
NM_000535.7(PMS2):c.989-14_989-10del
NM_000535.7(PMS2):c.989-18T>C
NM_000535.7(PMS2):c.989-19G>A
NM_000535.7(PMS2):c.989-1G>A
NM_000535.7(PMS2):c.989-1G>C
NM_000535.7(PMS2):c.989-1G>T rs587780064
NM_000535.7(PMS2):c.989-20T>A rs772522605
NM_000535.7(PMS2):c.989-20T>C rs772522605
NM_000535.7(PMS2):c.989-21_989-20del rs745927005
NM_000535.7(PMS2):c.989-296_1144+706del
NM_000535.7(PMS2):c.989-2A>G rs587779347
NM_000535.7(PMS2):c.989-3T>C rs1156325177
NM_000535.7(PMS2):c.989-8T>A rs1583336015
NM_000535.7(PMS2):c.989-8del rs1333503820
NM_000535.7(PMS2):c.989-8dup rs1333503820
NM_000535.7(PMS2):c.990A>G (p.Glu330=) rs2128749040
NM_000535.7(PMS2):c.991T>G (p.Cys331Gly) rs1554298831
NM_000535.7(PMS2):c.992G>A (p.Cys331Tyr) rs1184563006
NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)
NM_000535.7(PMS2):c.994G>C (p.Val332Leu) rs1236095389
NM_000535.7(PMS2):c.995T>A (p.Val332Asp) rs2128748950
NM_000535.7(PMS2):c.996T>C (p.Val332=) rs2128748933
NM_000535.7(PMS2):c.998A>C (p.Asp333Ala) rs1187390273
NM_000535.7(PMS2):c.99G>C (p.Leu33=)
NM_000535.7(PMS2):c.99G>T (p.Leu33=) rs1562701736
NM_000535.7(PMS2):c.9_23+7del rs1562711587
NM_000535.7:(PMS2):c.(1144+1_1145-1)_(2445+1_2446-1)del (p.Asn383Aspfs*7)
NM_000535.7:c.(1144+1_1145-1)_(2174+1_2175-1)dup
NM_000535.7:c.(23+1_24-1)_(988+1_989-1)del
NM_000535.7:c.804-70_2445+71del
Single allele

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