ClinVar Miner

List of variants in gene PMS2 studied for not specified

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Gene type:
ClinVar version:
Total variants: 645
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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.903+144G>T rs12702462 0.15665
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006 0.13518
NM_000535.7(PMS2):c.2007-4G>A rs1805326 0.12350
NM_000535.7(PMS2):c.2007-7C>T rs55954143 0.12135
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000 0.11447
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys) rs1805323 0.05742
NM_000535.7(PMS2):c.903+100T>G rs12534423 0.04879
NM_000535.7(PMS2):c.903+84C>T rs3815383 0.04877
NM_000535.7(PMS2):c.2175-117T>C rs75973354 0.04731
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.2275+25C>T rs184115126 0.01090
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869 0.01065
NM_000535.7(PMS2):c.705+36C>T rs111908557 0.01046
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_000535.7(PMS2):c.1569C>G (p.Ser523=) rs141458772 0.00560
NM_000535.7(PMS2):c.2445+30A>G rs549704870 0.00490
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.2275+42T>C rs181380255 0.00242
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.988+11T>C rs139969671 0.00032
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000535.7(PMS2):c.1242C>T (p.Asp414=) rs142839559 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
NM_000535.7(PMS2):c.1243G>A (p.Val415Met) rs138387687 0.00019
NM_000535.7(PMS2):c.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.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.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.823C>G (p.Gln275Glu) rs587780062 0.00010
NM_000535.7(PMS2):c.1714G>A (p.Ala572Thr) rs63751023 0.00009
NM_000535.7(PMS2):c.1980C>T (p.Ala660=) rs368928783 0.00009
NM_000535.7(PMS2):c.993C>T (p.Cys331=) rs186577215 0.00009
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_000535.7(PMS2):c.164-48A>G rs779666340 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.230A>C (p.Glu77Ala) rs777095030 0.00007
NM_000535.7(PMS2):c.2446-45G>A rs1017915874 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.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.1937G>T (p.Arg646Met) rs372341850 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln) rs587781934 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_000535.7(PMS2):c.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.-37C>T rs1027005255 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.1288A>G (p.Thr430Ala) rs587781382 0.00004
NM_000535.7(PMS2):c.13G>C (p.Glu5Gln) rs372539944 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.1883G>A (p.Arg628Gln) rs587780044 0.00004
NM_000535.7(PMS2):c.1936A>C (p.Arg646=) rs369582237 0.00004
NM_000535.7(PMS2):c.2049C>T (p.Asn683=) rs752950007 0.00004
NM_000535.7(PMS2):c.2334C>T (p.Phe778=) rs768674294 0.00004
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_000535.7(PMS2):c.2358G>C (p.Leu786=) rs535056715 0.00004
NM_000535.7(PMS2):c.24-43A>G rs367977895 0.00004
NM_000535.7(PMS2):c.2446-26G>A rs1454211746 0.00004
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln) rs63751284 0.00004
NM_000535.7(PMS2):c.422G>C (p.Gly141Ala) rs376931673 0.00004
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00004
NM_000535.7(PMS2):c.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.961G>A (p.Val321Ile) rs377043696 0.00004
NM_000535.7(PMS2):c.-27C>A rs774137874 0.00003
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.1438G>A (p.Gly480Arg) rs146848345 0.00003
NM_000535.7(PMS2):c.1576G>T (p.Asp526Tyr) rs63750686 0.00003
NM_000535.7(PMS2):c.1668A>G (p.Glu556=) rs876659780 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.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.2275+45C>T rs754969553 0.00003
NM_000535.7(PMS2):c.23+19C>G rs756178012 0.00003
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser) rs864622274 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.58C>T (p.Arg20Trp) rs573374779 0.00003
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp) rs876661233 0.00003
NM_000535.7(PMS2):c.681C>T (p.Ile227=) rs188813057 0.00003
NM_000535.7(PMS2):c.751G>A (p.Val251Met) rs142434011 0.00003
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp) rs182246929 0.00003
NM_000535.7(PMS2):c.885G>A (p.Arg295=) rs786201615 0.00003
NM_000535.7(PMS2):c.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.1080A>G (p.Ile360Met) rs567102013 0.00002
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 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.1480T>G (p.Ser494Ala) rs587782500 0.00002
NM_000535.7(PMS2):c.1539T>C (p.Ser513=) rs786202950 0.00002
NM_000535.7(PMS2):c.1629C>T (p.Asp543=) rs111673299 0.00002
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys) rs778531080 0.00002
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val) rs150630090 0.00002
NM_000535.7(PMS2):c.2217G>A (p.Leu739=) rs752718686 0.00002
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671 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.378C>T (p.His126=) rs768488890 0.00002
NM_000535.7(PMS2):c.537+9A>G rs759013264 0.00002
NM_000535.7(PMS2):c.598G>A (p.Val200Ile) rs587778620 0.00002
NM_000535.7(PMS2):c.702G>A (p.Lys234=) rs876660388 0.00002
NM_000535.7(PMS2):c.705+3A>G rs764334813 0.00002
NM_000535.7(PMS2):c.706-13T>C rs730881918 0.00002
NM_000535.7(PMS2):c.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.*14A>G rs1057520349 0.00001
NM_000535.7(PMS2):c.-18G>C rs200624125 0.00001
NM_000535.7(PMS2):c.-19C>T rs769408250 0.00001
NM_000535.7(PMS2):c.1058C>T (p.Ala353Val) rs543676323 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.1113T>C (p.Asn371=) rs989130272 0.00001
NM_000535.7(PMS2):c.1126C>T (p.Pro376Ser) rs730881911 0.00001
NM_000535.7(PMS2):c.1144+20C>T rs750883624 0.00001
NM_000535.7(PMS2):c.114G>A (p.Ala38=) rs558032755 0.00001
NM_000535.7(PMS2):c.1167A>G (p.Ala389=) rs748920792 0.00001
NM_000535.7(PMS2):c.1240G>T (p.Asp414Tyr) rs370752614 0.00001
NM_000535.7(PMS2):c.1253C>T (p.Ser418Phe) rs587782640 0.00001
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter) rs587778617 0.00001
NM_000535.7(PMS2):c.1305C>T (p.His435=) rs763954903 0.00001
NM_000535.7(PMS2):c.1344A>T (p.Gly448=) rs759192470 0.00001
NM_000535.7(PMS2):c.1360C>T (p.Leu454=) rs1338448094 0.00001
NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe) rs748698776 0.00001
NM_000535.7(PMS2):c.1368T>C (p.Ser456=) rs587780723 0.00001
NM_000535.7(PMS2):c.1390G>A (p.Asp464Asn) rs1394213772 0.00001
NM_000535.7(PMS2):c.1397G>C (p.Gly466Ala) rs1339878885 0.00001
NM_000535.7(PMS2):c.1398C>T (p.Gly466=) rs752666485 0.00001
NM_000535.7(PMS2):c.1420G>T (p.Ala474Ser) rs373114291 0.00001
NM_000535.7(PMS2):c.1463C>T (p.Ala488Val) rs587779328 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.1515G>A (p.Gly505=) rs753856135 0.00001
NM_000535.7(PMS2):c.1587G>A (p.Ser529=) rs786201709 0.00001
NM_000535.7(PMS2):c.1602C>G (p.Asp534Glu) rs1554297497 0.00001
NM_000535.7(PMS2):c.1630G>A (p.Asp544Asn) rs876660139 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.1686T>G (p.Phe562Leu) rs764749700 0.00001
NM_000535.7(PMS2):c.1687C>A (p.Arg563=) rs587778618 0.00001
NM_000535.7(PMS2):c.1705A>G (p.Thr569Ala) rs762151417 0.00001
NM_000535.7(PMS2):c.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.1760G>A (p.Ser587Asn) rs762100304 0.00001
NM_000535.7(PMS2):c.1765G>C (p.Asp589His) rs749727182 0.00001
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg) rs760629688 0.00001
NM_000535.7(PMS2):c.2000A>C (p.Glu667Ala) rs1404270894 0.00001
NM_000535.7(PMS2):c.2007-9T>C rs1194759833 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.2036T>C (p.Ile679Thr) rs778251286 0.00001
NM_000535.7(PMS2):c.2081A>T (p.Asp694Val) rs1554295876 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.2174+39A>G rs760327865 0.00001
NM_000535.7(PMS2):c.2175-9G>A rs1057522324 0.00001
NM_000535.7(PMS2):c.2265C>T (p.Ile755=) rs145646046 0.00001
NM_000535.7(PMS2):c.229G>A (p.Glu77Lys) rs751235177 0.00001
NM_000535.7(PMS2):c.23+6C>A rs779104357 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.2346C>T (p.Asp782=) rs139031103 0.00001
NM_000535.7(PMS2):c.2365A>T (p.Met789Leu) rs377259633 0.00001
NM_000535.7(PMS2):c.2373C>T (p.Ser791=) rs864622765 0.00001
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile) rs368737800 0.00001
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln) rs1060503143 0.00001
NM_000535.7(PMS2):c.2412G>C (p.Lys804Asn) rs547715146 0.00001
NM_000535.7(PMS2):c.241G>A (p.Glu81Lys) rs730881919 0.00001
NM_000535.7(PMS2):c.243A>G (p.Glu81=) rs1057521802 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.2476G>A (p.Glu826Lys) rs587782828 0.00001
NM_000535.7(PMS2):c.251-12A>C rs562762722 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.27A>C (p.Thr9=) rs1060504842 0.00001
NM_000535.7(PMS2):c.289G>A (p.Asp97Asn) rs1395998044 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.353+3G>A rs766373982 0.00001
NM_000535.7(PMS2):c.353+7C>A rs1057520512 0.00001
NM_000535.7(PMS2):c.354-5C>G rs200591010 0.00001
NM_000535.7(PMS2):c.354-7C>T rs758471869 0.00001
NM_000535.7(PMS2):c.354C>T (p.Ser118=) rs760615315 0.00001
NM_000535.7(PMS2):c.403C>G (p.Leu135Val) rs876658423 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.46A>G (p.Lys16Glu) rs777845808 0.00001
NM_000535.7(PMS2):c.537+17C>T rs548285941 0.00001
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser) rs779946576 0.00001
NM_000535.7(PMS2):c.630A>G (p.Lys210=) rs765847615 0.00001
NM_000535.7(PMS2):c.647G>T (p.Cys216Phe) rs730881908 0.00001
NM_000535.7(PMS2):c.653G>A (p.Gly218Asp) rs368043334 0.00001
NM_000535.7(PMS2):c.667A>G (p.Ile223Val) rs876660067 0.00001
NM_000535.7(PMS2):c.705+10G>A rs770203880 0.00001
NM_000535.7(PMS2):c.706-48T>C rs765707036 0.00001
NM_000535.7(PMS2):c.711A>G (p.Gln237=) rs368608818 0.00001
NM_000535.7(PMS2):c.740C>G (p.Pro247Arg) rs1173245928 0.00001
NM_000535.7(PMS2):c.750C>T (p.Ser250=) rs200439295 0.00001
NM_000535.7(PMS2):c.755G>A (p.Cys252Tyr) rs775445157 0.00001
NM_000535.7(PMS2):c.778T>A (p.Ser260Thr) rs1259974071 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+22G>C rs775392039 0.00001
NM_000535.7(PMS2):c.803+9A>G rs1784516917 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.87G>A (p.Gly29=) rs876659642 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.934A>G (p.Met312Val) rs786202567 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.989-14C>A rs1554298839 0.00001
NC_000007.13:g.(6018328_6022454)_(6048681_?)dup
NC_000007.13:g.(6022623_6026521)_(6026546_6026958)dup
NC_000007.13:g.(?_6010555)_(6027252_6029430)dup
NC_000007.13:g.(?_6010555)_(6048738_?)dup
NM_000535.6(PMS2):c.-33C>A rs562800874
NM_000535.6(PMS2):c.-49C>T rs952806552
NM_000535.6(PMS2):c.-50G>T rs557908122
NM_000535.6(PMS2):c.-77delA rs1057524913
NM_000535.7(PMS2):c.*2C>T rs764124442
NM_000535.7(PMS2):c.*3G>A rs776493195
NM_000535.7(PMS2):c.*8C>T
NM_000535.7(PMS2):c.-1C>T rs369681753
NM_000535.7(PMS2):c.-24C>G rs748909615
NM_000535.7(PMS2):c.-25C>G
NM_000535.7(PMS2):c.-29G>A rs1057520893
NM_000535.7(PMS2):c.-30A>C rs761498916
NM_000535.7(PMS2):c.-3T>G
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.1008T>G (p.Val336=) rs1057521429
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.1040A>G (p.Glu347Gly) rs878854031
NM_000535.7(PMS2):c.1044A>G (p.Glu348=) rs1554298767
NM_000535.7(PMS2):c.1059A>G (p.Ala353=) rs876660930
NM_000535.7(PMS2):c.1092T>C (p.Asp364=) rs370066853
NM_000535.7(PMS2):c.1098T>G (p.Asp366Glu)
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.1104C>T (p.Asn368=) rs1554298686
NM_000535.7(PMS2):c.1121AGC[1] (p.Gln375del) rs1583334101
NM_000535.7(PMS2):c.1131G>A (p.Leu377=) rs1064794687
NM_000535.7(PMS2):c.1145-10G>T rs533551639
NM_000535.7(PMS2):c.1145-16G>T rs576825560
NM_000535.7(PMS2):c.1145-17delinsGGAG rs1562637330
NM_000535.7(PMS2):c.1145-20C>T rs1057524098
NM_000535.7(PMS2):c.1185C>T (p.Pro395=) rs1562636721
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.1203T>C (p.Asp401=) rs1057522327
NM_000535.7(PMS2):c.1209C>T (p.Ser403=) rs147399413
NM_000535.7(PMS2):c.1214C>T (p.Ser405Leu) rs1554298036
NM_000535.7(PMS2):c.1215A>C (p.Ser405=) rs1554298028
NM_000535.7(PMS2):c.1224T>C (p.Thr408=) rs1554298007
NM_000535.7(PMS2):c.1231_1232delinsTT (p.Glu411Leu) rs786202871
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu) rs587778616
NM_000535.7(PMS2):c.1243G>T (p.Val415Leu) rs138387687
NM_000535.7(PMS2):c.1245G>A (p.Val415=) rs370701800
NM_000535.7(PMS2):c.1249A>C (p.Ile417Leu) rs1060503132
NM_000535.7(PMS2):c.1251T>C (p.Ile417=) rs1057521136
NM_000535.7(PMS2):c.1259T>C (p.Leu420Pro) rs747495075
NM_000535.7(PMS2):c.1267G>A (p.Ala423Thr) rs587778619
NM_000535.7(PMS2):c.1269C>A (p.Ala423=) rs921253631
NM_000535.7(PMS2):c.1269C>G (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.127G>A (p.Val43Ile) rs587780042
NM_000535.7(PMS2):c.1294A>G (p.Asn432Asp) rs1783144549
NM_000535.7(PMS2):c.1304A>C (p.His435Pro) rs1554297915
NM_000535.7(PMS2):c.1306A>G (p.Ser436Gly) rs1583321782
NM_000535.7(PMS2):c.1329A>T (p.Arg443Ser) rs192720342
NM_000535.7(PMS2):c.1332G>A (p.Arg444=) rs1554297874
NM_000535.7(PMS2):c.1338T>C (p.Pro446=) rs786203033
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.1354G>A (p.Gly452Ser) rs569947936
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser) rs587778615
NM_000535.7(PMS2):c.1378G>C (p.Gly460Arg) rs1554297825
NM_000535.7(PMS2):c.1389T>C (p.Ser463=) rs1554297811
NM_000535.7(PMS2):c.1401C>G (p.Val467=) rs1554297788
NM_000535.7(PMS2):c.1422A>C (p.Ala474=) rs1057522125
NM_000535.7(PMS2):c.142G>A (p.Asp48Asn) rs755665894
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.1439G>C (p.Gly480Ala) rs373917897
NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys) rs876660060
NM_000535.7(PMS2):c.1476G>A (p.Lys492=) rs766309532
NM_000535.7(PMS2):c.1482G>A (p.Ser494=) rs864622398
NM_000535.7(PMS2):c.1507T>G (p.Ser503Ala) rs864622497
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly) rs1254121331
NM_000535.7(PMS2):c.1533G>T (p.Thr511=) rs542520309
NM_000535.7(PMS2):c.1536C>T (p.Gly512=) rs1057523150
NM_000535.7(PMS2):c.1540C>T (p.His514Tyr) rs878854036
NM_000535.7(PMS2):c.1543T>C (p.Cys515Arg) rs1554297603
NM_000535.7(PMS2):c.1545C>T (p.Cys515=) rs1057520347
NM_000535.7(PMS2):c.1556_1559del (p.Tyr519fs) rs876661003
NM_000535.7(PMS2):c.1569C>T (p.Ser523=) rs141458772
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn) rs63750686
NM_000535.7(PMS2):c.1617G>A (p.Ala539=) rs776931237
NM_000535.7(PMS2):c.163+44TGT[2]
NM_000535.7(PMS2):c.1631A>T (p.Asp544Val) rs1562629531
NM_000535.7(PMS2):c.1634C>G (p.Ser545Cys) rs557906137
NM_000535.7(PMS2):c.164-15T>C rs1057522853
NM_000535.7(PMS2):c.164-38C>T
NM_000535.7(PMS2):c.164-43G>C rs2128831315
NM_000535.7(PMS2):c.1645G>A (p.Val549Met) rs1199136734
NM_000535.7(PMS2):c.166C>A (p.Leu56Ile) rs371011390
NM_000535.7(PMS2):c.1671T>C (p.Asp557=) rs1554297386
NM_000535.7(PMS2):c.1673C>G (p.Thr558Ser)
NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu) rs764749700
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter) rs587778618
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln) rs587780725
NM_000535.7(PMS2):c.1689_1690del (p.Val564fs) rs876661004
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg) rs869312801
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer) rs1060503126
NM_000535.7(PMS2):c.1731G>A (p.Lys577=) rs1057523469
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.1760G>C (p.Ser587Thr)
NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile) rs762100304
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg) rs764252217
NM_000535.7(PMS2):c.1812G>A (p.Gln604=) rs63750788
NM_000535.7(PMS2):c.1821A>G (p.Val607=) rs1554297205
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
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.1851C>T (p.Pro617=) rs1554297171
NM_000535.7(PMS2):c.1860T>C (p.Phe620=) rs1583314594
NM_000535.7(PMS2):c.1874T>C (p.Leu625Ser) rs63750835
NM_000535.7(PMS2):c.1888A>G (p.Lys630Glu) rs2128721764
NM_000535.7(PMS2):c.1893G>A (p.Gln631=) rs1057524687
NM_000535.7(PMS2):c.189G>A (p.Val63=) rs786203074
NM_000535.7(PMS2):c.1902T>C (p.His634=) rs376335675
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter) rs201451115
NM_000535.7(PMS2):c.1942T>G (p.Phe648Val) rs1782931972
NM_000535.7(PMS2):c.1977A>G (p.Ala659=) rs1057522418
NM_000535.7(PMS2):c.2003T>G (p.Ile668Arg) rs1562624877
NM_000535.7(PMS2):c.2006+16T>C rs1554297038
NM_000535.7(PMS2):c.2006+67del rs1159879425
NM_000535.7(PMS2):c.2007-11dup rs1554295996
NM_000535.7(PMS2):c.2007-16C>T rs587781111
NM_000535.7(PMS2):c.2007-19T>C rs1554295999
NM_000535.7(PMS2):c.2007-41A>G
NM_000535.7(PMS2):c.2007-43T>C
NM_000535.7(PMS2):c.2007-44A>C rs2128705373
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000535.7(PMS2):c.2008A>G (p.Lys670Glu) rs1554295980
NM_000535.7(PMS2):c.2017T>C (p.Phe673Leu) rs1562616167
NM_000535.7(PMS2):c.2025A>G (p.Glu675=) rs1057522947
NM_000535.7(PMS2):c.2032A>C (p.Ile678Leu) rs878854041
NM_000535.7(PMS2):c.2039G>C (p.Gly680Ala)
NM_000535.7(PMS2):c.203T>C (p.Val68Ala)
NM_000535.7(PMS2):c.2049C>G (p.Asn683Lys) rs752950007
NM_000535.7(PMS2):c.2076T>C (p.Asn692=) rs1554295887
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.20C>T (p.Ser7Leu) rs587780048
NM_000535.7(PMS2):c.2100G>A (p.Gln700=) rs1554295833
NM_000535.7(PMS2):c.2112C>A (p.Asp704Glu) rs764735061
NM_000535.7(PMS2):c.2117del (p.Lys706fs) rs587782704
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser) rs587780049
NM_000535.7(PMS2):c.2156A>G (p.Gln719Arg) rs587782559
NM_000535.7(PMS2):c.2160G>A (p.Gly720=) rs546441038
NM_000535.7(PMS2):c.2160G>C (p.Gly720=) rs546441038
NM_000535.7(PMS2):c.2165G>A (p.Arg722Lys)
NM_000535.7(PMS2):c.2166G>A (p.Arg722=) rs863224367
NM_000535.7(PMS2):c.2172A>G (p.Ile724Met) rs1562614497
NM_000535.7(PMS2):c.2174+3G>C rs1400193171
NM_000535.7(PMS2):c.2175-65_2175-61del rs1417472000
NM_000535.7(PMS2):c.2175A>T (p.Ala725=) rs769116749
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.21G>A (p.Ser7=) rs587780726
NM_000535.7(PMS2):c.21G>C (p.Ser7=) rs587780726
NM_000535.7(PMS2):c.2212G>C (p.Val738Leu) rs758225108
NM_000535.7(PMS2):c.2212G>T (p.Val738Phe) rs758225108
NM_000535.7(PMS2):c.2217G>C (p.Leu739=) rs752718686
NM_000535.7(PMS2):c.2219T>C (p.Ile740Thr) rs1554294462
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn) rs762206330
NM_000535.7(PMS2):c.2274T>C (p.Asn758=) rs1554294398
NM_000535.7(PMS2):c.2275+46G>A
NM_000535.7(PMS2):c.2275+8A>G rs878854046
NM_000535.7(PMS2):c.2276-17A>G rs1057523755
NM_000535.7(PMS2):c.2276-4T>C rs1562602173
NM_000535.7(PMS2):c.2276-8T>C
NM_000535.7(PMS2):c.2281G>A (p.Val761Ile) rs201914670
NM_000535.7(PMS2):c.23+19C>T rs756178012
NM_000535.7(PMS2):c.23+31C>T
NM_000535.7(PMS2):c.23+3G>T rs1408475000
NM_000535.7(PMS2):c.23+7G>A rs878854047
NM_000535.7(PMS2):c.23+7G>T rs878854047
NM_000535.7(PMS2):c.2301G>A (p.Leu767=) rs1554293987
NM_000535.7(PMS2):c.2310G>T (p.Leu770Phe) rs1583281360
NM_000535.7(PMS2):c.2317A>G (p.Ser773Gly) rs587781489
NM_000535.7(PMS2):c.2330C>T (p.Thr777Ile) rs777728316
NM_000535.7(PMS2):c.2343G>A (p.Gln781=) rs786202531
NM_000535.7(PMS2):c.2367G>A (p.Met789Ile) rs766565506
NM_000535.7(PMS2):c.2373C>A (p.Ser791Arg) rs864622765
NM_000535.7(PMS2):c.2378G>T (p.Ser793Ile)
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.2382T>C (p.Pro794=) rs1057521269
NM_000535.7(PMS2):c.2385G>A (p.Gly795=) rs372868520
NM_000535.7(PMS2):c.2388C>T (p.Val796=) rs876660875
NM_000535.7(PMS2):c.24-11G>A rs1554306632
NM_000535.7(PMS2):c.24-12_24-11del rs1554306636
NM_000535.7(PMS2):c.24-18_24-16del rs1064795573
NM_000535.7(PMS2):c.2418G>A (p.Met806Ile) rs786203096
NM_000535.7(PMS2):c.2432C>T (p.Ala811Val) rs1387206284
NM_000535.7(PMS2):c.2437C>G (p.Arg813Gly) rs375968016
NM_000535.7(PMS2):c.2442G>A (p.Lys814=) rs1554293745
NM_000535.7(PMS2):c.2445+13A>T rs1057522244
NM_000535.7(PMS2):c.2445+14G>A rs913201632
NM_000535.7(PMS2):c.2445+1G>T rs876661113
NM_000535.7(PMS2):c.2445+29C>T
NM_000535.7(PMS2):c.2445+8A>G rs1057522180
NM_000535.7(PMS2):c.2445+9A>G rs1562600132
NM_000535.7(PMS2):c.2445+9del rs1064793472
NM_000535.7(PMS2):c.2446-19C>T rs1390101876
NM_000535.7(PMS2):c.2446-5C>G rs864622279
NM_000535.7(PMS2):c.2446-6A>G rs1554292905
NM_000535.7(PMS2):c.2452A>G (p.Ile818Val)
NM_000535.7(PMS2):c.2462C>G (p.Ala821Gly) rs2128658992
NM_000535.7(PMS2):c.2463T>C (p.Ala821=) rs1583270315
NM_000535.7(PMS2):c.2475C>T (p.Ser825=) rs776460258
NM_000535.7(PMS2):c.2489dup (p.Ile831fs)
NM_000535.7(PMS2):c.250+12T>C rs1057523757
NM_000535.7(PMS2):c.250+16C>G rs1554304924
NM_000535.7(PMS2):c.250+17T>G rs1057524040
NM_000535.7(PMS2):c.250+5G>C rs1458809226
NM_000535.7(PMS2):c.250+8G>A rs1057520511
NM_000535.7(PMS2):c.2503G>T (p.Gly835Trp)
NM_000535.7(PMS2):c.2506G>C (p.Glu836Gln)
NM_000535.7(PMS2):c.251-11CT[2]
NM_000535.7(PMS2):c.251-18C>T rs766811365
NM_000535.7(PMS2):c.251-33A>C
NM_000535.7(PMS2):c.251-34G>A
NM_000535.7(PMS2):c.2538A>G (p.Gly846=) rs863224368
NM_000535.7(PMS2):c.2541G>T (p.Arg847Ser) rs2128657332
NM_000535.7(PMS2):c.2543C>T (p.Pro848Leu) rs786201850
NM_000535.7(PMS2):c.2559C>T (p.Ile853=) rs371673459
NM_000535.7(PMS2):c.2565C>T (p.Asn855=) rs864622494
NM_000535.7(PMS2):c.2566C>T (p.Leu856=) rs1421089696
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.311T>C (p.Phe104Ser) rs876660295
NM_000535.7(PMS2):c.321G>A (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.321G>T (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.324G>A (p.Gly108=) rs1057522330
NM_000535.7(PMS2):c.32C>T (p.Pro11Leu) rs1291217267
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.354-19G>A rs888344650
NM_000535.7(PMS2):c.356A>G (p.Asp119Gly) rs2128819431
NM_000535.7(PMS2):c.372C>G (p.Thr124=) rs1060504836
NM_000535.7(PMS2):c.384G>T (p.Ser128=) rs371342884
NM_000535.7(PMS2):c.387G>A (p.Ala129=) rs876658275
NM_000535.7(PMS2):c.411T>C (p.Phe137=) rs1785222735
NM_000535.7(PMS2):c.426A>C (p.Lys142Asn) rs1785218841
NM_000535.7(PMS2):c.447C>T (p.Tyr149=) rs1224505288
NM_000535.7(PMS2):c.468A>T (p.Thr156=) rs1364918195
NM_000535.7(PMS2):c.475G>T (p.Val159Leu) rs142416537
NM_000535.7(PMS2):c.479A>C (p.Gln160Pro) rs1554303922
NM_000535.7(PMS2):c.495A>G (p.Thr165=) rs1057520513
NM_000535.7(PMS2):c.524G>T (p.Arg175Met) rs1562688735
NM_000535.7(PMS2):c.531T>G (p.Ile177Met) rs863224679
NM_000535.7(PMS2):c.537+16C>T rs1057521052
NM_000535.7(PMS2):c.537+37T>C
NM_000535.7(PMS2):c.538-12dup rs1455766004
NM_000535.7(PMS2):c.538-15G>C rs1554302558
NM_000535.7(PMS2):c.538-19G>C rs1057521526
NM_000535.7(PMS2):c.538-53_538-42dup rs775465039
NM_000535.7(PMS2):c.555C>G (p.Val185=) rs759078497
NM_000535.7(PMS2):c.566A>C (p.His189Pro) rs876660330
NM_000535.7(PMS2):c.576T>C (p.Cys192=) rs1554302497
NM_000535.7(PMS2):c.593T>C (p.Ile198Thr) rs2128801302
NM_000535.7(PMS2):c.652G>A (p.Gly218Ser) rs878854055
NM_000535.7(PMS2):c.659G>T (p.Ser220Ile) rs769967916
NM_000535.7(PMS2):c.662C>G (p.Pro221Arg) rs878854056
NM_000535.7(PMS2):c.672G>A (p.Lys224=) rs748141595
NM_000535.7(PMS2):c.684C>T (p.Gly228=) rs371876208
NM_000535.7(PMS2):c.690G>C (p.Val230=) rs749871098
NM_000535.7(PMS2):c.695G>A (p.Gly232Glu) rs201811667
NM_000535.7(PMS2):c.697C>G (p.Gln233Glu) rs587779343
NM_000535.7(PMS2):c.705+13G>C rs776790763
NM_000535.7(PMS2):c.706-14T>A rs1057523232
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.706-4dup rs60794673
NM_000535.7(PMS2):c.706-5_706-4del rs60794673
NM_000535.7(PMS2):c.706-5_706-4dup
NM_000535.7(PMS2):c.706-6T>C rs2128788984
NM_000535.7(PMS2):c.706-6_706-4del rs60794673
NM_000535.7(PMS2):c.706-7_706-4del rs60794673
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.730C>G (p.Gln244Glu) rs1562671039
NM_000535.7(PMS2):c.753G>A (p.Val251=) rs762836049
NM_000535.7(PMS2):c.75G>A (p.Gln25=) rs1554306525
NM_000535.7(PMS2):c.774_776del (p.Cys259del)
NM_000535.7(PMS2):c.774_777delinsA (p.Ser258_Cys259delinsArg)
NM_000535.7(PMS2):c.774_778delinsTA (p.Cys259_Ser260delinsThr) rs1784525754
NM_000535.7(PMS2):c.779_780inv (p.Ser260Trp)
NM_000535.7(PMS2):c.780C>A (p.Ser260=) rs1805319
NM_000535.7(PMS2):c.787C>G (p.Leu263Val) rs587779345
NM_000535.7(PMS2):c.789G>A (p.Leu263=) rs755394319
NM_000535.7(PMS2):c.789G>C (p.Leu263=)
NM_000535.7(PMS2):c.7C>A (p.Arg3=) rs763939668
NM_000535.7(PMS2):c.803+11T>C rs767551713
NM_000535.7(PMS2):c.803+11dup rs1554301378
NM_000535.7(PMS2):c.803+7A>G rs1562669544
NM_000535.7(PMS2):c.804-21T>C rs1481725459
NM_000535.7(PMS2):c.817A>G (p.Ile273Val) rs587778621
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>T (p.Cys276=) rs757324104
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000535.7(PMS2):c.830C>T (p.Thr277Met) rs1805322
NM_000535.7(PMS2):c.833A>G (p.His278Arg) rs1562664434
NM_000535.7(PMS2):c.851C>T (p.Ser284Leu) rs587782898
NM_000535.7(PMS2):c.855A>G (p.Thr285=) rs1554300771
NM_000535.7(PMS2):c.869T>C (p.Phe290Ser) rs1031512870
NM_000535.7(PMS2):c.896C>T (p.Pro299Leu) rs1402108044
NM_000535.7(PMS2):c.903+11T>A rs766296823
NM_000535.7(PMS2):c.903+23A>G
NM_000535.7(PMS2):c.904-17_904-15del rs749482906
NM_000535.7(PMS2):c.904-19C>T rs1057522355
NM_000535.7(PMS2):c.904-25T>G
NM_000535.7(PMS2):c.917T>A (p.Val306Glu) rs786201878
NM_000535.7(PMS2):c.922G>A (p.Glu308Lys) rs587781358
NM_000535.7(PMS2):c.929A>T (p.Tyr310Phe) rs372172981
NM_000535.7(PMS2):c.933C>T (p.His311=) rs1057521069
NM_000535.7(PMS2):c.935T>C (p.Met312Thr) rs530021751
NM_000535.7(PMS2):c.950A>G (p.Gln317Arg) rs537024768
NM_000535.7(PMS2):c.989-21_989-20del rs745927005
NM_000535.7(PMS2):c.989-8dup rs1333503820
NM_000535.7(PMS2):c.[1556A>G;1559C>T1567T>A]

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