ClinVar Miner

List of variants in gene PMS2 reported as uncertain significance for not provided

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Gene type:
ClinVar version:
Total variants: 666
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HGVS dbSNP gnomAD frequency
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522 0.00192
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp) rs149202766 0.00142
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687 0.00088
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.1199A>C (p.Gln400Pro) rs148069478 0.00045
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.572A>G (p.Tyr191Cys) rs375289386 0.00029
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr) rs63751132 0.00021
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.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys) rs376042544 0.00012
NM_000535.7(PMS2):c.2445G>A (p.Ser815=) rs753199796 0.00012
NM_000535.7(PMS2):c.595C>T (p.Arg199Cys) rs372297364 0.00012
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His) rs370236216 0.00011
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00011
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly) rs116788608 0.00011
NM_000535.7(PMS2):c.340C>T (p.Leu114Phe) rs757441871 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.993C>T (p.Cys331=) rs186577215 0.00009
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile) rs373611083 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748 0.00008
NM_000535.7(PMS2):c.877A>G (p.Asn293Asp) rs530993704 0.00008
NM_000535.7(PMS2):c.1280G>A (p.Arg427His) rs112902065 0.00007
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser) rs63751211 0.00007
NM_000535.7(PMS2):c.2068A>C (p.Lys690Gln) rs587781909 0.00007
NM_000535.7(PMS2):c.226G>C (p.Glu76Gln) rs371682056 0.00007
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala) rs777095030 0.00007
NM_000535.7(PMS2):c.2559C>G (p.Ile853Met) rs371673459 0.00007
NM_000535.7(PMS2):c.1169C>T (p.Ala390Val) rs587780039 0.00006
NM_000535.7(PMS2):c.1233A>T (p.Glu411Asp) rs587780040 0.00006
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462 0.00006
NM_000535.7(PMS2):c.1394A>G (p.Lys465Arg) rs141084758 0.00006
NM_000535.7(PMS2):c.1510G>C (p.Glu504Gln) rs368516768 0.00006
NM_000535.7(PMS2):c.1577A>G (p.Asp526Gly) rs143235330 0.00006
NM_000535.7(PMS2):c.1703C>A (p.Pro568Gln) rs869312801 0.00006
NM_000535.7(PMS2):c.1937G>T (p.Arg646Met) rs372341850 0.00006
NM_000535.7(PMS2):c.353+6A>G rs376449640 0.00006
NM_000535.7(PMS2):c.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.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.1489G>A (p.Gly497Ser) rs749826312 0.00004
NM_000535.7(PMS2):c.1501G>A (p.Val501Met) rs540287433 0.00004
NM_000535.7(PMS2):c.178G>A (p.Asp60Asn) rs587782176 0.00004
NM_000535.7(PMS2):c.1828A>G (p.Lys610Glu) rs199700509 0.00004
NM_000535.7(PMS2):c.1883G>A (p.Arg628Gln) rs587780044 0.00004
NM_000535.7(PMS2):c.197T>C (p.Ile66Thr) rs769554577 0.00004
NM_000535.7(PMS2):c.2287G>A (p.Glu763Lys) rs587780051 0.00004
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile) rs553286217 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_000535.7(PMS2):c.320G>A (p.Arg107Gln) rs63751284 0.00004
NM_000535.7(PMS2):c.422G>C (p.Gly141Ala) rs376931673 0.00004
NM_000535.7(PMS2):c.455C>G (p.Pro152Arg) rs876660161 0.00004
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00004
NM_000535.7(PMS2):c.591C>T (p.Gly197=) rs748518694 0.00004
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser) rs777903002 0.00004
NM_000535.7(PMS2):c.916G>A (p.Val306Met) rs587780063 0.00004
NM_000535.7(PMS2):c.961G>A (p.Val321Ile) rs377043696 0.00004
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057 0.00003
NM_000535.7(PMS2):c.1438G>A (p.Gly480Arg) rs146848345 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.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.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.2288A>G (p.Glu763Gly) rs587780052 0.00003
NM_000535.7(PMS2):c.2338C>A (p.Pro780Thr) rs1064796041 0.00003
NM_000535.7(PMS2):c.251C>G (p.Thr84Ser) rs864622274 0.00003
NM_000535.7(PMS2):c.355G>A (p.Asp119Asn) rs587781913 0.00003
NM_000535.7(PMS2):c.364A>C (p.Ile122Leu) rs761748894 0.00003
NM_000535.7(PMS2):c.408G>A (p.Met136Ile) rs1064794077 0.00003
NM_000535.7(PMS2):c.58C>T (p.Arg20Trp) rs573374779 0.00003
NM_000535.7(PMS2):c.675A>C (p.Glu225Asp) rs876661233 0.00003
NM_000535.7(PMS2):c.751G>A (p.Val251Met) rs142434011 0.00003
NM_000535.7(PMS2):c.883C>T (p.Arg295Trp) rs182246929 0.00003
NM_000535.7(PMS2):c.886C>T (p.Pro296Ser) rs375553553 0.00003
NM_000535.7(PMS2):c.88C>A (p.Gln30Lys) rs141577476 0.00003
NM_000535.7(PMS2):c.917T>C (p.Val306Ala) rs786201878 0.00003
NM_000535.7(PMS2):c.924G>C (p.Glu308Asp) rs114185660 0.00003
NM_000535.7(PMS2):c.-1C>A rs369681753 0.00002
NM_000535.7(PMS2):c.1048C>T (p.Leu350Phe) rs587782875 0.00002
NM_000535.7(PMS2):c.1103A>G (p.Asn368Ser) rs777814445 0.00002
NM_000535.7(PMS2):c.113C>T (p.Ala38Val) rs148270248 0.00002
NM_000535.7(PMS2):c.1309C>T (p.Pro437Ser) rs200726484 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.1499C>G (p.Ser500Cys) rs375905814 0.00002
NM_000535.7(PMS2):c.149G>A (p.Gly50Asp) rs539285592 0.00002
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys) rs778531080 0.00002
NM_000535.7(PMS2):c.2174+6T>C rs587780050 0.00002
NM_000535.7(PMS2):c.2174C>T (p.Ala725Val) rs150630090 0.00002
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr) rs587782671 0.00002
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410 0.00002
NM_000535.7(PMS2):c.24-3T>C rs749485884 0.00002
NM_000535.7(PMS2):c.2497C>T (p.His833Tyr) rs777470381 0.00002
NM_000535.7(PMS2):c.2560G>A (p.Ala854Thr) rs574371474 0.00002
NM_000535.7(PMS2):c.328G>T (p.Ala110Ser) rs767775907 0.00002
NM_000535.7(PMS2):c.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.592A>G (p.Ile198Val) rs774629715 0.00002
NM_000535.7(PMS2):c.648C>G (p.Cys216Trp) rs762387250 0.00002
NM_000535.7(PMS2):c.766G>A (p.Gly256Ser) rs587782633 0.00002
NM_000535.7(PMS2):c.868T>G (p.Phe290Val) rs587782833 0.00002
NM_000535.7(PMS2):c.901A>G (p.Lys301Glu) rs757409701 0.00002
NM_000535.7(PMS2):c.964G>A (p.Val322Ile) rs587782208 0.00002
NM_000535.7(PMS2):c.972C>A (p.Asn324Lys) rs182085259 0.00002
NM_000535.7(PMS2):c.989A>G (p.Glu330Gly) rs761913816 0.00002
NM_000535.7(PMS2):c.-7_-5del rs1064794112 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.1092T>A (p.Asp364Glu) rs370066853 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.1136A>T (p.Asp379Val) rs536031711 0.00001
NM_000535.7(PMS2):c.1139T>G (p.Val380Gly) rs748971523 0.00001
NM_000535.7(PMS2):c.1164T>A (p.His388Gln) rs768480216 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.1225G>C (p.Gly409Arg) rs864622553 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.1262G>A (p.Arg421Gln) rs778482303 0.00001
NM_000535.7(PMS2):c.1264G>A (p.Glu422Lys) rs587782175 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.1363T>C (p.Ser455Pro) rs1554297839 0.00001
NM_000535.7(PMS2):c.1364C>T (p.Ser455Phe) rs748698776 0.00001
NM_000535.7(PMS2):c.1397G>C (p.Gly466Ala) rs1339878885 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.1463C>T (p.Ala488Val) rs587779328 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.1508C>A (p.Ser503Tyr) rs777920014 0.00001
NM_000535.7(PMS2):c.1519A>G (p.Ser507Gly) rs63751028 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.1586C>T (p.Ser529Leu) rs876658794 0.00001
NM_000535.7(PMS2):c.1624A>C (p.Thr542Pro) rs1425816147 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.1642G>A (p.Asp548Asn) rs374591423 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.1723A>G (p.Asn575Asp) rs142506484 0.00001
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947 0.00001
NM_000535.7(PMS2):c.1765G>C (p.Asp589His) rs749727182 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.1864A>T (p.Met622Leu) rs370853512 0.00001
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys) rs886062400 0.00001
NM_000535.7(PMS2):c.1929G>T (p.Gln643His) rs786203379 0.00001
NM_000535.7(PMS2):c.1952A>G (p.Lys651Arg) rs267608167 0.00001
NM_000535.7(PMS2):c.1963G>A (p.Gly655Arg) rs1064793236 0.00001
NM_000535.7(PMS2):c.2035A>G (p.Ile679Val) rs587780047 0.00001
NM_000535.7(PMS2):c.2036T>C (p.Ile679Thr) rs778251286 0.00001
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val) rs1060503144 0.00001
NM_000535.7(PMS2):c.2081A>T (p.Asp694Val) rs1554295876 0.00001
NM_000535.7(PMS2):c.2128G>A (p.Glu710Lys) rs1060503131 0.00001
NM_000535.7(PMS2):c.2152C>T (p.Leu718Phe) rs139765160 0.00001
NM_000535.7(PMS2):c.215G>A (p.Gly72Glu) rs730881915 0.00001
NM_000535.7(PMS2):c.2164A>G (p.Arg722Gly) rs1284646352 0.00001
NM_000535.7(PMS2):c.2175A>G (p.Ala725=) rs769116749 0.00001
NM_000535.7(PMS2):c.2179C>G (p.Gln727Glu) rs786202202 0.00001
NM_000535.7(PMS2):c.2207A>C (p.Glu736Ala) rs1060503115 0.00001
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp) rs587779337 0.00001
NM_000535.7(PMS2):c.2266G>T (p.Asp756Tyr) rs762206330 0.00001
NM_000535.7(PMS2):c.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+1369A>G rs970021339 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.2359A>T (p.Ile787Phe) rs191300933 0.00001
NM_000535.7(PMS2):c.2374G>A (p.Asp792Asn) rs587781265 0.00001
NM_000535.7(PMS2):c.2386G>A (p.Val796Ile) rs368737800 0.00001
NM_000535.7(PMS2):c.2396G>A (p.Arg799Gln) rs587780055 0.00001
NM_000535.7(PMS2):c.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.2431G>A (p.Ala811Thr) rs1169337656 0.00001
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu) rs587782665 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.2494A>G (p.Thr832Ala) rs587780056 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.25A>G (p.Thr9Ala) rs786202383 0.00001
NM_000535.7(PMS2):c.27A>C (p.Thr9=) rs1060504842 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.322G>C (p.Gly108Arg) rs750866397 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.354-5C>G rs200591010 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.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.494C>T (p.Thr165Ile) rs587781541 0.00001
NM_000535.7(PMS2):c.502G>A (p.Val168Met) rs762645507 0.00001
NM_000535.7(PMS2):c.506G>A (p.Arg169His) rs730881917 0.00001
NM_000535.7(PMS2):c.537+4C>T rs864622272 0.00001
NM_000535.7(PMS2):c.538-16T>G rs763941291 0.00001
NM_000535.7(PMS2):c.596G>A (p.Arg199His) rs876658387 0.00001
NM_000535.7(PMS2):c.608C>G (p.Thr203Ser) rs779946576 0.00001
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro) rs587779342 0.00001
NM_000535.7(PMS2):c.615G>T (p.Gln205His) rs752499497 0.00001
NM_000535.7(PMS2):c.647G>T (p.Cys216Phe) rs730881908 0.00001
NM_000535.7(PMS2):c.653G>A (p.Gly218Asp) rs368043334 0.00001
NM_000535.7(PMS2):c.687T>C (p.Ser229=) rs786201508 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.755G>A (p.Cys252Tyr) rs775445157 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.825A>T (p.Gln275His) rs876659736 0.00001
NM_000535.7(PMS2):c.844A>G (p.Arg282Gly) rs1554300793 0.00001
NM_000535.7(PMS2):c.847A>C (p.Ser283Arg) rs876660871 0.00001
NM_000535.7(PMS2):c.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.913C>G (p.Leu305Val) rs750420143 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.994G>A (p.Val332Ile) rs1236095389 0.00001
NM_000535.6(PMS2):c.2175-?_2445+?del
NM_000535.6(PMS2):c.904-?_988+?dup
NM_000535.7(PMS2):c.*3G>A rs776493195
NM_000535.7(PMS2):c.*3G>T rs776493195
NM_000535.7(PMS2):c.*5A>G
NM_000535.7(PMS2):c.-2C>T rs876658209
NM_000535.7(PMS2):c.-5C>A rs786202272
NM_000535.7(PMS2):c.1006G>T (p.Val336Phe) rs1783550031
NM_000535.7(PMS2):c.100A>C (p.Ser34Arg) rs730881912
NM_000535.7(PMS2):c.1010C>G (p.Thr337Ser) rs2128748739
NM_000535.7(PMS2):c.1012C>G (p.Pro338Ala) rs876660508
NM_000535.7(PMS2):c.1023G>T (p.Arg341Ser)
NM_000535.7(PMS2):c.1026A>C (p.Gln342His) rs561993366
NM_000535.7(PMS2):c.1032G>C (p.Leu344Phe) rs1554298791
NM_000535.7(PMS2):c.1037A>G (p.Gln346Arg) rs752268571
NM_000535.7(PMS2):c.1041G>C (p.Glu347Asp) rs150515238
NM_000535.7(PMS2):c.1055T>C (p.Leu352Ser) rs1060503134
NM_000535.7(PMS2):c.1068G>A (p.Lys356=) rs528499793
NM_000535.7(PMS2):c.106A>G (p.Ser36Gly) rs587781918
NM_000535.7(PMS2):c.1070C>G (p.Thr357Ser) rs980612510
NM_000535.7(PMS2):c.1072T>A (p.Ser358Thr) rs767755376
NM_000535.7(PMS2):c.1072T>G (p.Ser358Ala) rs767755376
NM_000535.7(PMS2):c.1075T>G (p.Leu359Val) rs730881910
NM_000535.7(PMS2):c.1077G>A (p.Leu359=)
NM_000535.7(PMS2):c.1082G>A (p.Gly361Glu) rs1064793540
NM_000535.7(PMS2):c.1099G>A (p.Val367Ile) rs746889239
NM_000535.7(PMS2):c.1106A>G (p.Lys369Arg) rs2128747431
NM_000535.7(PMS2):c.1113T>G (p.Asn371Lys) rs989130272
NM_000535.7(PMS2):c.1117A>C (p.Ser373Arg) rs1060503125
NM_000535.7(PMS2):c.1121AGC[1] (p.Gln375del) rs1583334101
NM_000535.7(PMS2):c.1123C>G (p.Gln375Glu) rs956005905
NM_000535.7(PMS2):c.1131G>A (p.Leu377=) rs1064794687
NM_000535.7(PMS2):c.1144+4A>G rs1554298642
NM_000535.7(PMS2):c.1144+5G>C rs1783506726
NM_000535.7(PMS2):c.1145G>A (p.Gly382Asp) rs876661243
NM_000535.7(PMS2):c.1156A>G (p.Lys386Glu)
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.1171G>T (p.Asp391Tyr) rs1064795020
NM_000535.7(PMS2):c.1181A>G (p.Lys394Arg) rs1583323684
NM_000535.7(PMS2):c.1182G>T (p.Lys394Asn) rs1197824645
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.1211C>T (p.Pro404Leu) rs536111818
NM_000535.7(PMS2):c.1212T>G (p.Pro404=)
NM_000535.7(PMS2):c.1225G>A (p.Gly409Arg) rs864622553
NM_000535.7(PMS2):c.1231_1232delinsTT (p.Glu411Leu) rs786202871
NM_000535.7(PMS2):c.1232A>C (p.Glu411Ala) rs587782832
NM_000535.7(PMS2):c.1233A>C (p.Glu411Asp) rs587780040
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu) rs587778616
NM_000535.7(PMS2):c.1238_1239delinsGG (p.Lys413Arg) rs587780041
NM_000535.7(PMS2):c.1243G>T (p.Val415Leu) rs138387687
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.124T>G (p.Leu42Val)
NM_000535.7(PMS2):c.1251T>G (p.Ile417Met) rs1057521136
NM_000535.7(PMS2):c.1255A>G (p.Arg419Gly) rs1554297975
NM_000535.7(PMS2):c.1258C>A (p.Leu420Met)
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.1271T>C (p.Phe424Ser) rs876661186
NM_000535.7(PMS2):c.1276C>T (p.Leu426Phe) rs2128734575
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.1298A>C (p.Lys433Thr) rs1064796375
NM_000535.7(PMS2):c.1301C>G (p.Pro434Arg) rs1554297919
NM_000535.7(PMS2):c.1303C>T (p.His435Tyr) rs148956636
NM_000535.7(PMS2):c.1319C>T (p.Pro440Leu) rs1064793233
NM_000535.7(PMS2):c.1329A>T (p.Arg443Ser) rs192720342
NM_000535.7(PMS2):c.1331G>T (p.Arg444Met) rs1241272236
NM_000535.7(PMS2):c.1354G>A (p.Gly452Ser) rs569947936
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg) rs569947936
NM_000535.7(PMS2):c.1358T>C (p.Met453Thr) rs1060503130
NM_000535.7(PMS2):c.1359G>T (p.Met453Ile) rs886062401
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser) rs587778615
NM_000535.7(PMS2):c.1373C>G (p.Thr458Ser) rs755348833
NM_000535.7(PMS2):c.1373C>T (p.Thr458Ile) rs755348833
NM_000535.7(PMS2):c.1376C>T (p.Ser459Leu) rs587780724
NM_000535.7(PMS2):c.1395A>C (p.Lys465Asn) rs1208428952
NM_000535.7(PMS2):c.1418A>G (p.Glu473Gly)
NM_000535.7(PMS2):c.1424T>A (p.Val475Glu) rs587781827
NM_000535.7(PMS2):c.142G>A (p.Asp48Asn) rs755665894
NM_000535.7(PMS2):c.1430C>A (p.Ser477Tyr) rs876661291
NM_000535.7(PMS2):c.1438G>C (p.Gly480Arg) rs146848345
NM_000535.7(PMS2):c.1439G>C (p.Gly480Ala) rs373917897
NM_000535.7(PMS2):c.143A>G (p.Asp48Gly) rs2128844111
NM_000535.7(PMS2):c.1450C>T (p.Pro484Ser) rs752122569
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met) rs1805323
NM_000535.7(PMS2):c.1457A>G (p.Asp486Gly) rs899935666
NM_000535.7(PMS2):c.1465G>A (p.Glu489Lys) rs876660060
NM_000535.7(PMS2):c.1471G>A (p.Glu491Lys) rs1064794577
NM_000535.7(PMS2):c.1477G>C (p.Asp493His) rs148642064
NM_000535.7(PMS2):c.1484G>C (p.Gly495Ala) rs1064793846
NM_000535.7(PMS2):c.1495A>G (p.Thr499Ala) rs1060503117
NM_000535.7(PMS2):c.1507T>G (p.Ser503Ala) rs864622497
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly) rs1254121331
NM_000535.7(PMS2):c.1513G>T (p.Gly505Trp) rs1554297662
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser) rs1060503127
NM_000535.7(PMS2):c.1534G>T (p.Gly512Cys) rs1060503127
NM_000535.7(PMS2):c.1551C>T (p.Ser517=) rs587782479
NM_000535.7(PMS2):c.1556A>T (p.Tyr519Phe)
NM_000535.7(PMS2):c.1556_1559delinsGTGT (p.Tyr519_Ala520delinsCysVal)
NM_000535.7(PMS2):c.1556_1567delinsGTGTGGCCAGCA (p.Tyr519_Ser523delinsCysValAlaSerThr) rs1554297549
NM_000535.7(PMS2):c.1562C>G (p.Ala521Gly)
NM_000535.7(PMS2):c.1576G>A (p.Asp526Asn) rs63750686
NM_000535.7(PMS2):c.1579A>G (p.Arg527Gly) rs756823316
NM_000535.7(PMS2):c.1589A>G (p.Gln530Arg) rs1783039464
NM_000535.7(PMS2):c.158A>C (p.Asn53Thr)
NM_000535.7(PMS2):c.1595A>G (p.His532Arg) rs1554297505
NM_000535.7(PMS2):c.161T>C (p.Ile54Thr) rs764565924
NM_000535.7(PMS2):c.1632C>A (p.Asp544Glu) rs786203439
NM_000535.7(PMS2):c.163G>T (p.Asp55Tyr)
NM_000535.7(PMS2):c.164-13_164-12del rs1064796250
NM_000535.7(PMS2):c.164-5T>C rs1554305071
NM_000535.7(PMS2):c.1643A>C (p.Asp548Ala) rs1269515306
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.1655A>T (p.His552Leu)
NM_000535.7(PMS2):c.1666G>C (p.Glu556Gln) rs786202656
NM_000535.7(PMS2):c.1672A>G (p.Thr558Ala) rs781106967
NM_000535.7(PMS2):c.1673C>T (p.Thr558Ile) rs114037612
NM_000535.7(PMS2):c.1673_1674inv (p.Thr558Arg)
NM_000535.7(PMS2):c.1679G>A (p.Cys560Tyr) rs757989905
NM_000535.7(PMS2):c.1686T>A (p.Phe562Leu) rs764749700
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1688G>C (p.Arg563Pro) rs63750668
NM_000535.7(PMS2):c.1688_1689delinsAG (p.Arg563Gln) rs587780725
NM_000535.7(PMS2):c.1693T>G (p.Leu565Val) rs786202870
NM_000535.7(PMS2):c.1700A>G (p.Gln567Arg) rs112104877
NM_000535.7(PMS2):c.1703C>G (p.Pro568Arg) rs869312801
NM_000535.7(PMS2):c.170A>C (p.Lys57Thr) rs765474498
NM_000535.7(PMS2):c.1712T>G (p.Leu571Arg) rs1060503128
NM_000535.7(PMS2):c.1714_1717delinsACAT (p.Ala572_Thr573delinsThrSer) rs1060503126
NM_000535.7(PMS2):c.1718C>A (p.Thr573Asn) rs876660076
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.1756T>C (p.Ser586Pro) rs1562627766
NM_000535.7(PMS2):c.1760G>T (p.Ser587Ile) rs762100304
NM_000535.7(PMS2):c.1769T>C (p.Ile590Thr) rs1583315748
NM_000535.7(PMS2):c.1779G>C (p.Lys593Asn) rs1583315597
NM_000535.7(PMS2):c.1786A>G (p.Asn596Asp) rs1583315513
NM_000535.7(PMS2):c.1789A>G (p.Thr597Ala) rs1805318
NM_000535.7(PMS2):c.1795G>A (p.Asp599Asn) rs1380574195
NM_000535.7(PMS2):c.1801T>C (p.Ser601Pro) rs1782975271
NM_000535.7(PMS2):c.1810C>G (p.Gln604Glu) rs1064793426
NM_000535.7(PMS2):c.1823C>G (p.Ala608Gly) rs1562627020
NM_000535.7(PMS2):c.1849C>T (p.Pro617Ser) rs864622096
NM_000535.7(PMS2):c.1852C>G (p.Leu618Val) rs1782959405
NM_000535.7(PMS2):c.1857C>A (p.Asp619Glu) rs876661271
NM_000535.7(PMS2):c.1874T>C (p.Leu625Ser) rs63750835
NM_000535.7(PMS2):c.1883G>C (p.Arg628Pro)
NM_000535.7(PMS2):c.1890G>C (p.Lys630Asn) rs1782948207
NM_000535.7(PMS2):c.1920A>G (p.Glu640=) rs1060503113
NM_000535.7(PMS2):c.1924G>A (p.Glu642Lys) rs752772040
NM_000535.7(PMS2):c.1942T>G (p.Phe648Val) rs1782931972
NM_000535.7(PMS2):c.1945A>G (p.Arg649Gly)
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.1955T>A (p.Ile652Asn) rs1554297091
NM_000535.7(PMS2):c.1987G>A (p.Glu663Lys) rs1554297061
NM_000535.7(PMS2):c.199G>A (p.Glu67Lys) rs730881913
NM_000535.7(PMS2):c.19T>C (p.Ser7Pro) rs1064793232
NM_000535.7(PMS2):c.2006+3A>G rs1064793866
NM_000535.7(PMS2):c.2007-6C>G rs376018314
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.202G>T (p.Val68Phe)
NM_000535.7(PMS2):c.2034C>T (p.Ile678=) rs2128704468
NM_000535.7(PMS2):c.2042A>G (p.Gln681Arg) rs1782465326
NM_000535.7(PMS2):c.2049C>G (p.Asn683Lys) rs752950007
NM_000535.7(PMS2):c.2062A>T (p.Ile688Leu) rs1060503144
NM_000535.7(PMS2):c.2069A>G (p.Lys690Arg) rs876661164
NM_000535.7(PMS2):c.206C>T (p.Ser69Leu) rs730881914
NM_000535.7(PMS2):c.2089A>G (p.Ile697Val) rs1554295859
NM_000535.7(PMS2):c.2092G>A (p.Val698Met) rs751551006
NM_000535.7(PMS2):c.2093T>C (p.Val698Ala) rs1085308060
NM_000535.7(PMS2):c.2097C>G (p.Asp699Glu) rs1064793501
NM_000535.7(PMS2):c.20C>T (p.Ser7Leu) rs587780048
NM_000535.7(PMS2):c.2104G>T (p.Ala702Ser) rs1554295821
NM_000535.7(PMS2):c.2108C>A (p.Thr703Lys) rs370196722
NM_000535.7(PMS2):c.210C>G (p.Asp70Glu) rs1554304997
NM_000535.7(PMS2):c.2118G>C (p.Lys706Asn) rs776238286
NM_000535.7(PMS2):c.212A>G (p.Asn71Ser) rs587780049
NM_000535.7(PMS2):c.2141A>G (p.Gln714Arg)
NM_000535.7(PMS2):c.2144A>C (p.His715Pro) rs773913260
NM_000535.7(PMS2):c.2153T>C (p.Leu718Pro) rs755117943
NM_000535.7(PMS2):c.215G>C (p.Gly72Ala) rs730881915
NM_000535.7(PMS2):c.2168T>C (p.Leu723Pro) rs1246922900
NM_000535.7(PMS2):c.2174+6T>A rs587780050
NM_000535.7(PMS2):c.2175-3C>T rs1326163718
NM_000535.7(PMS2):c.2194A>G (p.Thr732Ala) rs587781958
NM_000535.7(PMS2):c.2200G>A (p.Val734Ile) rs1467072152
NM_000535.7(PMS2):c.2203A>G (p.Asn735Asp) rs1554294476
NM_000535.7(PMS2):c.221G>C (p.Gly74Ala) rs876661272
NM_000535.7(PMS2):c.2247T>A (p.Asn749Lys) rs200824831
NM_000535.7(PMS2):c.2253T>A (p.Phe751Leu)
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn) rs762206330
NM_000535.7(PMS2):c.226GAA[2] (p.Glu78del) rs386833411
NM_000535.7(PMS2):c.2275+9_2275+11delinsGAACTTACC
NM_000535.7(PMS2):c.2275G>T (p.Ala759Ser) rs1554294396
NM_000535.7(PMS2):c.2281G>A (p.Val761Ile) rs201914670
NM_000535.7(PMS2):c.2284A>G (p.Thr762Ala)
NM_000535.7(PMS2):c.23+3G>T rs1408475000
NM_000535.7(PMS2):c.2324A>T (p.Asn775Ile) rs17420802
NM_000535.7(PMS2):c.2326T>C (p.Trp776Arg) rs2128674890
NM_000535.7(PMS2):c.2338C>T (p.Pro780Ser) rs1064796041
NM_000535.7(PMS2):c.2339C>G (p.Pro780Arg) rs779971866
NM_000535.7(PMS2):c.2341C>A (p.Gln781Lys) rs587780054
NM_000535.7(PMS2):c.2361C>G (p.Ile787Met) rs1064794923
NM_000535.7(PMS2):c.2362T>G (p.Phe788Val) rs876658480
NM_000535.7(PMS2):c.2367G>A (p.Met789Ile) rs766565506
NM_000535.7(PMS2):c.2378G>A (p.Ser793Asn) rs1583280432
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.2381C>G (p.Pro794Arg) rs876659030
NM_000535.7(PMS2):c.2383G>A (p.Gly795Arg) rs1423733655
NM_000535.7(PMS2):c.2389A>T (p.Met797Leu) rs1433888137
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.2399C>T (p.Pro800Leu) rs200629542
NM_000535.7(PMS2):c.239T>G (p.Phe80Cys) rs1064795697
NM_000535.7(PMS2):c.240C>A (p.Phe80Leu) rs143162541
NM_000535.7(PMS2):c.240C>G (p.Phe80Leu) rs143162541
NM_000535.7(PMS2):c.2416A>T (p.Met806Leu) rs1554293792
NM_000535.7(PMS2):c.2422G>C (p.Ala808Pro) rs1306035279
NM_000535.7(PMS2):c.2426C>T (p.Ser809Phe) rs1583279643
NM_000535.7(PMS2):c.2428A>G (p.Arg810Gly) rs1781818536
NM_000535.7(PMS2):c.2430A>T (p.Arg810Ser) rs1583279606
NM_000535.7(PMS2):c.2435G>T (p.Cys812Phe) rs876661116
NM_000535.7(PMS2):c.2438G>A (p.Arg813Gln) rs587782665
NM_000535.7(PMS2):c.2445+6T>C rs1170182390
NM_000535.7(PMS2):c.2446G>C (p.Val816Leu)
NM_000535.7(PMS2):c.2455G>A (p.Gly819Arg)
NM_000535.7(PMS2):c.2456G>A (p.Gly819Glu)
NM_000535.7(PMS2):c.2467_2468delinsG (p.Asn823fs) rs2128658902
NM_000535.7(PMS2):c.2470A>G (p.Thr824Ala) rs1583270215
NM_000535.7(PMS2):c.2475C>G (p.Ser825Arg)
NM_000535.7(PMS2):c.2475C>T (p.Ser825=) rs776460258
NM_000535.7(PMS2):c.2491A>G (p.Ile831Val) rs876661221
NM_000535.7(PMS2):c.2497C>G (p.His833Asp) rs777470381
NM_000535.7(PMS2):c.2500A>T (p.Met834Leu) rs1554292828
NM_000535.7(PMS2):c.250A>C (p.Thr84Pro) rs1554304938
NM_000535.7(PMS2):c.251-10T>A rs1554304817
NM_000535.7(PMS2):c.251-6_251-3del rs2128827769
NM_000535.7(PMS2):c.2516A>G (p.His839Arg) rs1562593924
NM_000535.7(PMS2):c.2518C>T (p.Pro840Ser) rs1562593877
NM_000535.7(PMS2):c.2525A>G (p.Asn842Ser)
NM_000535.7(PMS2):c.2527T>C (p.Cys843Arg) rs1554292753
NM_000535.7(PMS2):c.2534A>T (p.His845Leu) rs1554292741
NM_000535.7(PMS2):c.2534del (p.His845fs)
NM_000535.7(PMS2):c.2537G>C (p.Gly846Ala) rs2128657397
NM_000535.7(PMS2):c.2540G>A (p.Arg847Lys) rs1583269177
NM_000535.7(PMS2):c.2543C>T (p.Pro848Leu) rs786201850
NM_000535.7(PMS2):c.2546C>T (p.Thr849Ile) rs876660627
NM_000535.7(PMS2):c.2554C>T (p.His852Tyr) rs754350493
NM_000535.7(PMS2):c.2560G>C (p.Ala854Pro) rs574371474
NM_000535.7(PMS2):c.2562C>T (p.Ala854=) rs1060504841
NM_000535.7(PMS2):c.2563A>G (p.Asn855Asp) rs1064793328
NM_000535.7(PMS2):c.2564A>G (p.Asn855Ser) rs2128656929
NM_000535.7(PMS2):c.2567T>C (p.Leu856Pro)
NM_000535.7(PMS2):c.2572G>A (p.Val858Ile) rs368036201
NM_000535.7(PMS2):c.2573T>A (p.Val858Asp)
NM_000535.7(PMS2):c.2575A>G (p.Ile859Val) rs587780058
NM_000535.7(PMS2):c.2580T>C (p.Ser860=)
NM_000535.7(PMS2):c.260A>G (p.His87Arg) rs1340959686
NM_000535.7(PMS2):c.265A>G (p.Thr89Ala) rs2128827539
NM_000535.7(PMS2):c.26C>T (p.Thr9Ile) rs1210073386
NM_000535.7(PMS2):c.283T>C (p.Phe95Leu) rs1554304717
NM_000535.7(PMS2):c.300G>C (p.Gln100His) rs1064794102
NM_000535.7(PMS2):c.310T>C (p.Phe104Leu) rs1554304677
NM_000535.7(PMS2):c.31C>G (p.Pro11Ala) rs1554306608
NM_000535.7(PMS2):c.320G>C (p.Arg107Pro) rs63751284
NM_000535.7(PMS2):c.321G>C (p.Arg107=) rs756420858
NM_000535.7(PMS2):c.353+6dup rs1562693353
NM_000535.7(PMS2):c.353+7C>T rs1057520512
NM_000535.7(PMS2):c.354-2A>G rs786202098
NM_000535.7(PMS2):c.354-3C>T rs587782632
NM_000535.7(PMS2):c.354-7C>A rs758471869
NM_000535.7(PMS2):c.355G>T (p.Asp119Tyr) rs587781913
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.391G>T (p.Val131Phe) rs1583403963
NM_000535.7(PMS2):c.395G>C (p.Gly132Ala) rs1583403941
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.401G>A (p.Arg134Gln) rs771300829
NM_000535.7(PMS2):c.404T>C (p.Leu135Pro) rs2128818545
NM_000535.7(PMS2):c.406A>T (p.Met136Leu) rs35690297
NM_000535.7(PMS2):c.40G>T (p.Ala14Ser) rs876661039
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.434A>G (p.Gln145Arg) rs1064795040
NM_000535.7(PMS2):c.440C>A (p.Thr147Asn) rs1554304012
NM_000535.7(PMS2):c.443C>T (p.Pro148Leu)
NM_000535.7(PMS2):c.457A>G (p.Arg153Gly) rs779013546
NM_000535.7(PMS2):c.469G>A (p.Val157Ile) rs1554303946
NM_000535.7(PMS2):c.473G>A (p.Ser158Asn) rs750354871
NM_000535.7(PMS2):c.487T>C (p.Phe163Leu) rs587780060
NM_000535.7(PMS2):c.4G>C (p.Glu2Gln) rs1554309080
NM_000535.7(PMS2):c.505C>T (p.Arg169Cys) rs730881916
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.516A>T (p.Glu172Asp) rs1785191843
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.539A>C (p.Glu180Ala) rs1064793401
NM_000535.7(PMS2):c.551T>C (p.Met184Thr) rs1583387794
NM_000535.7(PMS2):c.555C>T (p.Val185=) rs759078497
NM_000535.7(PMS2):c.558G>C (p.Gln186His) rs769411134
NM_000535.7(PMS2):c.55G>C (p.Asp19His) rs1554306568
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.568G>A (p.Ala190Thr) rs1784822104
NM_000535.7(PMS2):c.586G>A (p.Ala196Thr) rs1784818316
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.5A>G (p.Glu2Gly) rs876658233
NM_000535.7(PMS2):c.607A>G (p.Thr203Ala) rs730881907
NM_000535.7(PMS2):c.610A>C (p.Asn204His) rs746910555
NM_000535.7(PMS2):c.620G>C (p.Gly207Ala) rs374704824
NM_000535.7(PMS2):c.632G>T (p.Arg211Leu) rs587781934
NM_000535.7(PMS2):c.63G>A (p.Lys21=) rs772643900
NM_000535.7(PMS2):c.641T>G (p.Val214Gly) rs864622706
NM_000535.7(PMS2):c.643G>A (p.Val215Ile) rs1064794017
NM_000535.7(PMS2):c.646T>C (p.Cys216Arg) rs371402182
NM_000535.7(PMS2):c.649A>C (p.Thr217Pro) rs1784800451
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.659G>C (p.Ser220Thr)
NM_000535.7(PMS2):c.659G>T (p.Ser220Ile) rs769967916
NM_000535.7(PMS2):c.665G>A (p.Ser222Asn) rs560462942
NM_000535.7(PMS2):c.672G>C (p.Lys224Asn) rs748141595
NM_000535.7(PMS2):c.683G>T (p.Gly228Val) rs1554302319
NM_000535.7(PMS2):c.685T>C (p.Ser229Pro) rs730881909
NM_000535.7(PMS2):c.692T>C (p.Phe231Ser)
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.706-3C>A rs1229860023
NM_000535.7(PMS2):c.706-3del rs770480662
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe) rs201395630
NM_000535.7(PMS2):c.710A>T (p.Gln237Leu) rs587780061
NM_000535.7(PMS2):c.713G>C (p.Ser238Thr)
NM_000535.7(PMS2):c.721C>G (p.Pro241Ala) rs779411667
NM_000535.7(PMS2):c.727G>T (p.Val243Phe) rs867655834
NM_000535.7(PMS2):c.731A>G (p.Gln244Arg)
NM_000535.7(PMS2):c.740C>T (p.Pro247Leu)
NM_000535.7(PMS2):c.742A>C (p.Ser248Arg) rs2128787818
NM_000535.7(PMS2):c.758A>C (p.Glu253Ala) rs876661002
NM_000535.7(PMS2):c.770T>G (p.Leu257Trp) rs1554301463
NM_000535.7(PMS2):c.773G>A (p.Ser258Asn) rs587780727
NM_000535.7(PMS2):c.774_780delinsTACG (p.Cys259_Ser260delinsThr) rs1554301436
NM_000535.7(PMS2):c.779_780delinsTG (p.Ser260Leu) rs730881920
NM_000535.7(PMS2):c.77T>C (p.Ile26Thr) rs1583419301
NM_000535.7(PMS2):c.781G>C (p.Asp261His) rs1060503150
NM_000535.7(PMS2):c.784G>A (p.Ala262Thr) rs779625900
NM_000535.7(PMS2):c.787C>G (p.Leu263Val) rs587779345
NM_000535.7(PMS2):c.792T>A (p.His264Gln) rs1554301398
NM_000535.7(PMS2):c.804-8T>C rs1562664890
NM_000535.7(PMS2):c.805A>G (p.Ile269Val) rs1554300825
NM_000535.7(PMS2):c.817A>C (p.Ile273Leu)
NM_000535.7(PMS2):c.824A>G (p.Gln275Arg) rs546966892
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.836G>T (p.Gly279Val) rs587782668
NM_000535.7(PMS2):c.849T>A (p.Ser283Arg) rs1277038817
NM_000535.7(PMS2):c.851C>T (p.Ser284Leu) rs587782898
NM_000535.7(PMS2):c.858C>A (p.Asp286Glu) rs201921616
NM_000535.7(PMS2):c.865T>C (p.Phe289Leu) rs771787834
NM_000535.7(PMS2):c.868T>C (p.Phe290Leu) rs587782833
NM_000535.7(PMS2):c.869T>C (p.Phe290Ser) rs1031512870
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.896C>T (p.Pro299Leu) rs1402108044
NM_000535.7(PMS2):c.899C>A (p.Ala300Glu) rs1554300702
NM_000535.7(PMS2):c.903+1G>A rs1554300689
NM_000535.7(PMS2):c.904-14T>A rs1064795266
NM_000535.7(PMS2):c.914T>C (p.Leu305Pro) rs1583345706
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.925G>T (p.Val309Phe) rs763718441
NM_000535.7(PMS2):c.92T>C (p.Val31Ala)
NM_000535.7(PMS2):c.935T>C (p.Met312Thr) rs530021751
NM_000535.7(PMS2):c.938A>G (p.Tyr313Cys) rs587782513
NM_000535.7(PMS2):c.949C>A (p.Gln317Lys) rs143277125
NM_000535.7(PMS2):c.94G>T (p.Val32Leu) rs977251189
NM_000535.7(PMS2):c.967C>T (p.Leu323Phe)
NM_000535.7(PMS2):c.979G>A (p.Val327Ile) rs1257825900
NM_000535.7(PMS2):c.988+5G>A rs1783785796
NM_000535.7(PMS2):c.989-8dup rs1333503820

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