ClinVar Miner

List of variants in gene PKP2 studied for Cardiovascular phenotype

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Gene type:
ClinVar version:
Total variants: 454
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HGVS dbSNP gnomAD frequency
NM_001005242.3(PKP2):c.1097T>C (p.Leu366Pro) rs1046116 0.20181
NM_001005242.3(PKP2):c.2167+7C>T rs74072938 0.06473
NM_001005242.3(PKP2):c.209G>T (p.Ser70Ile) rs75909145 0.01900
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808 0.00716
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
NM_001005242.3(PKP2):c.819G>A (p.Pro273=) rs3748279 0.00266
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241 0.00255
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_001005242.3(PKP2):c.1171-11T>C rs183414126 0.00239
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855 0.00231
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015 0.00189
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959 0.00148
NM_001005242.3(PKP2):c.1012A>G (p.Thr338Ala) rs139851304 0.00142
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859 0.00096
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
NM_001005242.3(PKP2):c.1379-2067G>A rs138538072 0.00070
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019 0.00060
NM_001005242.3(PKP2):c.1379-2054C>T rs144620127 0.00053
NM_001005242.3(PKP2):c.1379-2109G>A rs139159464 0.00050
NM_001005242.3(PKP2):c.1379-2019C>T rs149930872 0.00049
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197 0.00039
NM_001005242.3(PKP2):c.2355T>C (p.Asp785=) rs142362933 0.00034
NM_001005242.3(PKP2):c.1863G>A (p.Pro621=) rs146144731 0.00030
NM_001005242.3(PKP2):c.696C>T (p.Asp232=) rs375677250 0.00026
NM_001005242.3(PKP2):c.983G>C (p.Gly328Ala) rs144651139 0.00026
NM_001005242.3(PKP2):c.1379-2025G>A rs537458442 0.00023
NM_001005242.3(PKP2):c.198G>A (p.Arg66=) rs144106848 0.00022
NM_001005242.3(PKP2):c.302G>A (p.Arg101His) rs149542398 0.00022
NM_001005242.3(PKP2):c.928G>A (p.Val310Met) rs768396351 0.00017
NM_001005242.3(PKP2):c.1379-2068C>T rs377424658 0.00016
NM_001005242.3(PKP2):c.1504G>A (p.Ala502Thr) rs368740836 0.00016
NM_001005242.3(PKP2):c.1888G>A (p.Val630Met) rs143038626 0.00016
NM_001005242.3(PKP2):c.1951C>T (p.Arg651Cys) rs199583774 0.00016
NM_001005242.3(PKP2):c.307C>A (p.Pro103Thr) rs139215336 0.00016
NM_001005242.3(PKP2):c.195C>T (p.Ala65=) rs397517014 0.00015
NM_001005242.3(PKP2):c.2301C>T (p.Arg767=) rs369166666 0.00015
NM_001005242.3(PKP2):c.1379-2066C>T rs373399921 0.00014
NM_001005242.3(PKP2):c.1379-2018G>A rs369518480 0.00013
NM_001005242.3(PKP2):c.1509T>C (p.Asn503=) rs143782040 0.00013
NM_001005242.3(PKP2):c.1842A>G (p.Gln614=) rs138901574 0.00013
NM_001005242.3(PKP2):c.1379-2005A>G rs397516995 0.00012
NM_001005242.3(PKP2):c.1540G>A (p.Val514Ile) rs376102257 0.00012
NM_001005242.3(PKP2):c.306C>A (p.Ser102=) rs376613662 0.00012
NM_001005242.3(PKP2):c.682G>A (p.Asp228Asn) rs143954425 0.00012
NM_001005242.3(PKP2):c.1323G>T (p.Arg441=) rs3748278 0.00011
NM_001005242.3(PKP2):c.1740G>T (p.Glu580Asp) rs370219248 0.00011
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090 0.00011
NM_001005242.3(PKP2):c.2392G>A (p.Val798Ile) rs368633311 0.00011
NM_001005242.3(PKP2):c.45C>T (p.Thr15=) rs759214983 0.00010
NM_001005242.3(PKP2):c.826C>T (p.Pro276Ser) rs201944276 0.00010
NM_001005242.3(PKP2):c.1379-2065G>A rs771856087 0.00009
NM_001005242.3(PKP2):c.2302G>A (p.Asp768Asn) rs200947767 0.00009
NM_001005242.3(PKP2):c.996G>A (p.Leu332=) rs144574595 0.00009
NM_001005242.3(PKP2):c.1379-2038T>C rs781397552 0.00008
NM_001005242.3(PKP2):c.194C>T (p.Ala65Val) rs139924723 0.00008
NM_001005242.3(PKP2):c.888C>T (p.His296=) rs397517029 0.00008
NM_001005242.3(PKP2):c.918C>T (p.Pro306=) rs368656084 0.00008
NM_001005242.3(PKP2):c.795G>T (p.Gly265=) rs375268778 0.00007
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944 0.00006
NM_001005242.3(PKP2):c.1190T>A (p.Ile397Asn) rs772334698 0.00006
NM_001005242.3(PKP2):c.1230C>T (p.Asp410=) rs148364390 0.00006
NM_001005242.3(PKP2):c.1444A>G (p.Thr482Ala) rs397516999 0.00006
NM_001005242.3(PKP2):c.2332A>G (p.Ile778Val) rs145324631 0.00006
NM_001005242.3(PKP2):c.486G>A (p.Thr162=) rs189040311 0.00006
NM_001005242.3(PKP2):c.985A>C (p.Ser329Arg) rs779173447 0.00006
NM_001005242.3(PKP2):c.1137C>T (p.His379=) rs754927123 0.00005
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter) rs372827156 0.00005
NM_001005242.3(PKP2):c.123G>T (p.Ala41=) rs757273590 0.00005
NM_001005242.3(PKP2):c.1372A>G (p.Ile458Val) rs199571473 0.00005
NM_001005242.3(PKP2):c.1379-2000T>A rs769899368 0.00005
NM_001005242.3(PKP2):c.1379-2072C>T rs758950276 0.00005
NM_001005242.3(PKP2):c.1451C>T (p.Thr484Met) rs774942476 0.00005
NM_001005242.3(PKP2):c.1809T>G (p.Cys603Trp) rs767935208 0.00005
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter) rs121434420 0.00005
NM_001005242.3(PKP2):c.576G>A (p.Pro192=) rs373380483 0.00005
NM_001005242.3(PKP2):c.725C>T (p.Thr242Met) rs201580443 0.00005
NM_001005242.3(PKP2):c.895C>T (p.Arg299Cys) rs564987195 0.00005
NM_001005242.3(PKP2):c.974C>T (p.Ala325Val) rs201803918 0.00005
NM_001005242.3(PKP2):c.1010G>A (p.Ser337Asn) rs144401285 0.00004
NM_001005242.3(PKP2):c.1064G>A (p.Arg355Gln) rs370868564 0.00004
NM_001005242.3(PKP2):c.12C>T (p.Pro4=) rs397516991 0.00004
NM_001005242.3(PKP2):c.1379-1997G>A rs781072699 0.00004
NM_001005242.3(PKP2):c.1379-2020G>A rs1415117420 0.00004
NM_001005242.3(PKP2):c.1379-2022G>A rs111450489 0.00004
NM_001005242.3(PKP2):c.1379-2102C>G rs762631031 0.00004
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=) rs727504098 0.00004
NM_001005242.3(PKP2):c.1464C>T (p.Ile488=) rs145387575 0.00004
NM_001005242.3(PKP2):c.1537A>G (p.Asn513Asp) rs200343561 0.00004
NM_001005242.3(PKP2):c.1575C>T (p.Gly525=) rs780049494 0.00004
NM_001005242.3(PKP2):c.1576G>A (p.Ala526Thr) rs558637427 0.00004
NM_001005242.3(PKP2):c.1825A>G (p.Arg609Gly) rs775103879 0.00004
NM_001005242.3(PKP2):c.1874G>C (p.Ser625Thr) rs779926314 0.00004
NM_001005242.3(PKP2):c.1965A>G (p.Gln655=) rs727505293 0.00004
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984 0.00004
NM_001005242.3(PKP2):c.2018C>T (p.Pro673Leu) rs144018320 0.00004
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=) rs147995773 0.00004
NM_001005242.3(PKP2):c.2090G>T (p.Gly697Val) rs143503798 0.00004
NM_001005242.3(PKP2):c.2121G>A (p.Ser707=) rs139098675 0.00004
NM_001005242.3(PKP2):c.213C>T (p.Ser71=) rs1173618581 0.00004
NM_001005242.3(PKP2):c.2141G>A (p.Arg714Gln) rs397517020 0.00004
NM_001005242.3(PKP2):c.2233A>G (p.Ile745Val) rs551045165 0.00004
NM_001005242.3(PKP2):c.2352C>T (p.Gly784=) rs727504509 0.00004
NM_001005242.3(PKP2):c.2357+1G>A rs111517471 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001005242.3(PKP2):c.548G>A (p.Ser183Asn) rs373222905 0.00004
NM_001005242.3(PKP2):c.634C>T (p.Arg212Cys) rs766379716 0.00004
NM_001005242.3(PKP2):c.714G>A (p.Pro238=) rs727503372 0.00004
NM_001005242.3(PKP2):c.789G>A (p.Thr263=) rs760432217 0.00004
NM_001005242.3(PKP2):c.950C>T (p.Ala317Val) rs775318947 0.00004
NM_001005242.3(PKP2):c.953A>C (p.His318Pro) rs181098323 0.00004
NM_001005242.3(PKP2):c.963C>T (p.Val321=) rs202207343 0.00004
NM_001005242.3(PKP2):c.1080C>T (p.Leu360=) rs397516984 0.00003
NM_001005242.3(PKP2):c.1379-2011G>A rs140301552 0.00003
NM_001005242.3(PKP2):c.1404T>A (p.Asn468Lys) rs1208347768 0.00003
NM_001005242.3(PKP2):c.146A>G (p.Gln49Arg) rs763492084 0.00003
NM_001005242.3(PKP2):c.1519G>A (p.Asp507Asn) rs763427502 0.00003
NM_001005242.3(PKP2):c.1528A>G (p.Ile510Val) rs397517002 0.00003
NM_001005242.3(PKP2):c.1557-1G>C rs78897684 0.00003
NM_001005242.3(PKP2):c.1679C>T (p.Thr560Met) rs373360192 0.00003
NM_001005242.3(PKP2):c.1796A>G (p.Lys599Arg) rs533659697 0.00003
NM_001005242.3(PKP2):c.1819C>T (p.Arg607Ter) rs751288871 0.00003
NM_001005242.3(PKP2):c.1945A>G (p.Ser649Gly) rs375295635 0.00003
NM_001005242.3(PKP2):c.1968A>T (p.Glu656Asp) rs879210282 0.00003
NM_001005242.3(PKP2):c.1998G>A (p.Thr666=) rs371089832 0.00003
NM_001005242.3(PKP2):c.2014-1G>C rs193922674 0.00003
NM_001005242.3(PKP2):c.2081T>G (p.Leu694Arg) rs794729115 0.00003
NM_001005242.3(PKP2):c.236G>A (p.Arg79Gln) rs766802880 0.00003
NM_001005242.3(PKP2):c.2372A>G (p.Lys791Arg) rs372729739 0.00003
NM_001005242.3(PKP2):c.2487C>T (p.Ala829=) rs747191995 0.00003
NM_001005242.3(PKP2):c.259G>C (p.Val87Leu) rs750028032 0.00003
NM_001005242.3(PKP2):c.591C>T (p.Ser197=) rs769438623 0.00003
NM_001005242.3(PKP2):c.611G>A (p.Arg204His) rs755215178 0.00003
NM_001005242.3(PKP2):c.1127T>C (p.Phe376Ser) rs56869013 0.00002
NM_001005242.3(PKP2):c.1183C>T (p.Arg395Cys) rs761238380 0.00002
NM_001005242.3(PKP2):c.1308A>G (p.Leu436=) rs1439169005 0.00002
NM_001005242.3(PKP2):c.1322G>A (p.Arg441Gln) rs753912985 0.00002
NM_001005242.3(PKP2):c.1379-1972G>A rs779392697 0.00002
NM_001005242.3(PKP2):c.1379-2012C>T rs760461056 0.00002
NM_001005242.3(PKP2):c.1379-2071G>A rs776244945 0.00002
NM_001005242.3(PKP2):c.1379-2103A>G rs764608036 0.00002
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter) rs193922672 0.00002
NM_001005242.3(PKP2):c.1610G>A (p.Gly537Glu) rs866789949 0.00002
NM_001005242.3(PKP2):c.1820G>A (p.Arg607Gln) rs763648594 0.00002
NM_001005242.3(PKP2):c.1857G>A (p.Pro619=) rs760434776 0.00002
NM_001005242.3(PKP2):c.1878C>T (p.Asn626=) rs769943903 0.00002
NM_001005242.3(PKP2):c.1887C>T (p.Gly629=) rs368325383 0.00002
NM_001005242.3(PKP2):c.193G>T (p.Ala65Ser) rs143323961 0.00002
NM_001005242.3(PKP2):c.1943A>G (p.Lys648Arg) rs776915959 0.00002
NM_001005242.3(PKP2):c.1952G>A (p.Arg651His) rs758813231 0.00002
NM_001005242.3(PKP2):c.2234T>C (p.Ile745Thr) rs543233804 0.00002
NM_001005242.3(PKP2):c.2316C>T (p.Thr772=) rs369837002 0.00002
NM_001005242.3(PKP2):c.2420C>T (p.Thr807Met) rs146118033 0.00002
NM_001005242.3(PKP2):c.2421G>A (p.Thr807=) rs199900632 0.00002
NM_001005242.3(PKP2):c.382G>A (p.Ala128Thr) rs1193697338 0.00002
NM_001005242.3(PKP2):c.387G>A (p.Gln129=) rs768974835 0.00002
NM_001005242.3(PKP2):c.418T>A (p.Ser140Thr) rs727503373 0.00002
NM_001005242.3(PKP2):c.558C>T (p.Ala186=) rs184522105 0.00002
NM_001005242.3(PKP2):c.587G>A (p.Arg196His) rs146566525 0.00002
NM_001005242.3(PKP2):c.600G>A (p.Val200=) rs781305034 0.00002
NM_001005242.3(PKP2):c.663C>A (p.Tyr221Ter) rs767987619 0.00002
NM_001005242.3(PKP2):c.687C>T (p.Thr229=) rs1209406571 0.00002
NM_001005242.3(PKP2):c.68G>A (p.Gly23Glu) rs746530389 0.00002
NM_001005242.3(PKP2):c.804C>T (p.Val268=) rs781271804 0.00002
NM_001005242.3(PKP2):c.976G>A (p.Ala326Thr) rs148480056 0.00002
NM_001005242.3(PKP2):c.1034+1G>A rs869025496 0.00001
NM_001005242.3(PKP2):c.110A>G (p.Lys37Arg) rs781400459 0.00001
NM_001005242.3(PKP2):c.1132C>T (p.Gln378Ter) rs397516986 0.00001
NM_001005242.3(PKP2):c.1138G>A (p.Glu380Lys) rs878898365 0.00001
NM_001005242.3(PKP2):c.1171-2A>G rs794729133 0.00001
NM_001005242.3(PKP2):c.1231G>A (p.Val411Ile) rs192041220 0.00001
NM_001005242.3(PKP2):c.1326G>A (p.Leu442=) rs377076035 0.00001
NM_001005242.3(PKP2):c.1367A>C (p.Lys456Thr) rs750897570 0.00001
NM_001005242.3(PKP2):c.1379-2023C>T rs587781108 0.00001
NM_001005242.3(PKP2):c.1379-2111C>T rs1172703594 0.00001
NM_001005242.3(PKP2):c.1379-2A>T rs1453983744 0.00001
NM_001005242.3(PKP2):c.1379-5T>C rs189036647 0.00001
NM_001005242.3(PKP2):c.1394T>C (p.Leu465Ser) rs374163198 0.00001
NM_001005242.3(PKP2):c.1429A>G (p.Thr477Ala) rs775192286 0.00001
NM_001005242.3(PKP2):c.1446G>A (p.Thr482=) rs370753286 0.00001
NM_001005242.3(PKP2):c.1457A>T (p.Asn486Ile) rs780349259 0.00001
NM_001005242.3(PKP2):c.14G>A (p.Gly5Asp) rs774778142 0.00001
NM_001005242.3(PKP2):c.1515G>A (p.Leu505=) rs148533214 0.00001
NM_001005242.3(PKP2):c.1518C>T (p.Leu506=) rs1320642436 0.00001
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001005242.3(PKP2):c.154A>G (p.Lys52Glu) rs920017662 0.00001
NM_001005242.3(PKP2):c.1579G>A (p.Asp527Asn) rs764193250 0.00001
NM_001005242.3(PKP2):c.158G>A (p.Ser53Asn) rs776363973 0.00001
NM_001005242.3(PKP2):c.165G>T (p.Arg55=) rs1472609900 0.00001
NM_001005242.3(PKP2):c.1760A>G (p.Tyr587Cys) rs1060501183 0.00001
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln) rs755076586 0.00001
NM_001005242.3(PKP2):c.1784C>A (p.Thr595Asn) rs1354122232 0.00001
NM_001005242.3(PKP2):c.192C>A (p.Leu64=) rs768376044 0.00001
NM_001005242.3(PKP2):c.1939G>A (p.Ala647Thr) rs759920696 0.00001
NM_001005242.3(PKP2):c.1958A>G (p.Tyr653Cys) rs778600610 0.00001
NM_001005242.3(PKP2):c.1989G>T (p.Gln663His) rs765884775 0.00001
NM_001005242.3(PKP2):c.2017C>T (p.Pro673Ser) rs757205704 0.00001
NM_001005242.3(PKP2):c.2046G>A (p.Gln682=) rs772622598 0.00001
NM_001005242.3(PKP2):c.2200A>G (p.Ile734Val) rs556563706 0.00001
NM_001005242.3(PKP2):c.2213T>C (p.Val738Ala) rs1555141066 0.00001
NM_001005242.3(PKP2):c.2217G>A (p.Pro739=) rs753226330 0.00001
NM_001005242.3(PKP2):c.2282A>G (p.Asn761Ser) rs1488359220 0.00001
NM_001005242.3(PKP2):c.2317G>A (p.Gly773Arg) rs766775778 0.00001
NM_001005242.3(PKP2):c.2349A>G (p.Ala783=) rs139258347 0.00001
NM_001005242.3(PKP2):c.2363C>T (p.Ala788Val) rs763663760 0.00001
NM_001005242.3(PKP2):c.2391C>T (p.Ser797=) rs772225819 0.00001
NM_001005242.3(PKP2):c.2428C>T (p.His810Tyr) rs397517023 0.00001
NM_001005242.3(PKP2):c.2446-2A>C rs1060501188 0.00001
NM_001005242.3(PKP2):c.2457G>A (p.Lys819=) rs777477467 0.00001
NM_001005242.3(PKP2):c.35A>G (p.Tyr12Cys) rs763433296 0.00001
NM_001005242.3(PKP2):c.405C>T (p.Ser135=) rs775423741 0.00001
NM_001005242.3(PKP2):c.467C>T (p.Pro156Leu) rs766360871 0.00001
NM_001005242.3(PKP2):c.484A>G (p.Thr162Ala) rs765195368 0.00001
NM_001005242.3(PKP2):c.485C>T (p.Thr162Met) rs759687672 0.00001
NM_001005242.3(PKP2):c.493G>A (p.Asp165Asn) rs886049322 0.00001
NM_001005242.3(PKP2):c.525G>A (p.Gly175=) rs748807540 0.00001
NM_001005242.3(PKP2):c.533dup (p.His179fs) rs769220833 0.00001
NM_001005242.3(PKP2):c.559G>A (p.Ala187Thr) rs200095747 0.00001
NM_001005242.3(PKP2):c.575C>T (p.Pro192Leu) rs748566573 0.00001
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu) rs560220280 0.00001
NM_001005242.3(PKP2):c.746G>A (p.Ser249Asn) rs1085307949 0.00001
NM_001005242.3(PKP2):c.837C>T (p.Pro279=) rs572938229 0.00001
NM_001005242.3(PKP2):c.837_838del (p.Val280fs) rs772220644 0.00001
NM_001005242.3(PKP2):c.838G>A (p.Val280Ile) rs748148237 0.00001
NM_001005242.3(PKP2):c.878G>C (p.Ser293Thr) rs1323074715 0.00001
NM_001005242.3(PKP2):c.893C>A (p.Thr298Asn) rs753271708 0.00001
NM_001005242.3(PKP2):c.903G>A (p.Leu301=) rs934225556 0.00001
NM_001005242.3(PKP2):c.909A>G (p.Glu303=) rs376001513 0.00001
NM_001005242.3(PKP2):c.914G>A (p.Gly305Glu) rs146683466 0.00001
NM_001005242.3(PKP2):c.915G>A (p.Gly305=) rs1274553859 0.00001
NM_001005242.3(PKP2):c.921T>C (p.Ser307=) rs941328238 0.00001
NM_001005242.3(PKP2):c.934T>G (p.Ser312Ala) rs756604557 0.00001
NM_001005242.3(PKP2):c.-3C>A
NM_001005242.3(PKP2):c.-9_12dup (p.Pro4_Gly5insThrGlyProMetAlaAlaPro) rs770443705
NM_001005242.3(PKP2):c.1003G>T (p.Glu335Ter) rs1396519956
NM_001005242.3(PKP2):c.1011C>T (p.Ser337=)
NM_001005242.3(PKP2):c.1017C>T (p.Phe339=)
NM_001005242.3(PKP2):c.101C>G (p.Ser34Cys) rs1957128054
NM_001005242.3(PKP2):c.1029G>A (p.Gln343=)
NM_001005242.3(PKP2):c.1034+1G>C rs869025496
NM_001005242.3(PKP2):c.1035G>A (p.Gly345=) rs905404609
NM_001005242.3(PKP2):c.1048G>A (p.Glu350Lys) rs147264025
NM_001005242.3(PKP2):c.1114G>C (p.Ala372Pro) rs200586695
NM_001005242.3(PKP2):c.111G>A (p.Lys37=)
NM_001005242.3(PKP2):c.1123A>G (p.Thr375Ala)
NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter) rs878898365
NM_001005242.3(PKP2):c.1152A>G (p.Lys384=)
NM_001005242.3(PKP2):c.1162C>G (p.Arg388Gly)
NM_001005242.3(PKP2):c.1170+2T>A rs397516987
NM_001005242.3(PKP2):c.1170+4_1170+7del rs397516988
NM_001005242.3(PKP2):c.1170+5G>A rs794729105
NM_001005242.3(PKP2):c.1177C>T (p.Gln393Ter) rs786204393
NM_001005242.3(PKP2):c.1184G>C (p.Arg395Pro)
NM_001005242.3(PKP2):c.118C>G (p.Leu40Val) rs1039022167
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_001005242.3(PKP2):c.1219C>T (p.Gln407Ter) rs1555145520
NM_001005242.3(PKP2):c.1234C>T (p.Gln412Ter) rs1565590309
NM_001005242.3(PKP2):c.1294G>C (p.Glu432Gln) rs1956689490
NM_001005242.3(PKP2):c.12C>A (p.Pro4=)
NM_001005242.3(PKP2):c.130_131delinsCC (p.Ser44Pro)
NM_001005242.3(PKP2):c.1358A>C (p.Glu453Ala)
NM_001005242.3(PKP2):c.1359G>A (p.Glu453=) rs1158553343
NM_001005242.3(PKP2):c.1368del (p.Lys456fs) rs1393661338
NM_001005242.3(PKP2):c.1378+1G>C rs397516994
NM_001005242.3(PKP2):c.1378+2T>A rs762103704
NM_001005242.3(PKP2):c.1378+5T>C rs767415624
NM_001005242.3(PKP2):c.1379-1972G>C
NM_001005242.3(PKP2):c.1379-1994A>G
NM_001005242.3(PKP2):c.1379-1997G>C
NM_001005242.3(PKP2):c.1379-2001G>T
NM_001005242.3(PKP2):c.1379-2010A>G rs1382350974
NM_001005242.3(PKP2):c.1379-2026A>G
NM_001005242.3(PKP2):c.1379-2032A>T
NM_001005242.3(PKP2):c.1379-2041C>A
NM_001005242.3(PKP2):c.1379-2042G>A
NM_001005242.3(PKP2):c.1379-2045_1379-1738del rs2137836547
NM_001005242.3(PKP2):c.1379-2068_1379-2066delinsTGT rs886038926
NM_001005242.3(PKP2):c.1379-2091A>T
NM_001005242.3(PKP2):c.1379-2101A>G rs1424035271
NM_001005242.3(PKP2):c.1379-2101A>T
NM_001005242.3(PKP2):c.1395G>C (p.Leu465Phe)
NM_001005242.3(PKP2):c.1415A>G (p.Lys472Arg) rs749926313
NM_001005242.3(PKP2):c.144_165del (p.Gln49fs) rs930283260
NM_001005242.3(PKP2):c.1464C>A (p.Ile488=)
NM_001005242.3(PKP2):c.1485T>C (p.Pro495=) rs879043258
NM_001005242.3(PKP2):c.148_151del (p.Thr50fs) rs397516997
NM_001005242.3(PKP2):c.1511del (p.Gly504fs) rs794729137
NM_001005242.3(PKP2):c.1515G>T (p.Leu505Phe)
NM_001005242.3(PKP2):c.1523T>G (p.Phe508Cys)
NM_001005242.3(PKP2):c.1532del (p.Phe511fs) rs794729127
NM_001005242.3(PKP2):c.1556+1G>A rs397517003
NM_001005242.3(PKP2):c.1594A>T (p.Met532Leu) rs1298544159
NM_001005242.3(PKP2):c.15C>G (p.Gly5=) rs1390632513
NM_001005242.3(PKP2):c.1609G>A (p.Gly537Arg)
NM_001005242.3(PKP2):c.1627del (p.Val543fs) rs397517008
NM_001005242.3(PKP2):c.1636G>A (p.Val546Ile) rs1475361697
NM_001005242.3(PKP2):c.164G>T (p.Arg55Leu)
NM_001005242.3(PKP2):c.1667del (p.Asp556fs) rs794729128
NM_001005242.3(PKP2):c.1689dup (p.Val564fs) rs397517010
NM_001005242.3(PKP2):c.16G>A (p.Ala6Thr)
NM_001005242.3(PKP2):c.173A>G (p.Glu58Gly)
NM_001005242.3(PKP2):c.1744T>A (p.Tyr582Asn) rs794729112
NM_001005242.3(PKP2):c.1769del (p.Asn590fs) rs1064793231
NM_001005242.3(PKP2):c.176A>G (p.Gln59Arg)
NM_001005242.3(PKP2):c.1771del (p.Arg591fs) rs1555142984
NM_001005242.3(PKP2):c.1779C>A (p.Ile593=) rs2137777449
NM_001005242.3(PKP2):c.1788CAA[2] (p.Asn598del) rs750084387
NM_001005242.3(PKP2):c.1788_1789del (p.Asp596fs)
NM_001005242.3(PKP2):c.1795A>G (p.Lys599Glu)
NM_001005242.3(PKP2):c.1804G>A (p.Gly602Arg) rs960192135
NM_001005242.3(PKP2):c.1807_1829del (p.Cys603fs) rs1555142963
NM_001005242.3(PKP2):c.1820_1823dup (p.Ser608fs) rs397517013
NM_001005242.3(PKP2):c.1845C>T (p.Tyr615=)
NM_001005242.3(PKP2):c.1848G>A (p.Gln616=) rs759353036
NM_001005242.3(PKP2):c.1852G>A (p.Val618Met) rs770909247
NM_001005242.3(PKP2):c.1862C>G (p.Pro621Arg) rs773061639
NM_001005242.3(PKP2):c.1881del (p.Lys628fs) rs764817683
NM_001005242.3(PKP2):c.1893G>T (p.Glu631Asp) rs879110663
NM_001005242.3(PKP2):c.1901G>T (p.Trp634Leu) rs1555142907
NM_001005242.3(PKP2):c.190dup (p.Leu64fs) rs762288961
NM_001005242.3(PKP2):c.1957T>G (p.Tyr653Asp)
NM_001005242.3(PKP2):c.1981G>A (p.Ala661Thr) rs1199864691
NM_001005242.3(PKP2):c.1981G>C (p.Ala661Pro)
NM_001005242.3(PKP2):c.1982C>T (p.Ala661Val)
NM_001005242.3(PKP2):c.1993del (p.Leu665fs)
NM_001005242.3(PKP2):c.1997C>T (p.Thr666Met) rs397517016
NM_001005242.3(PKP2):c.199A>G (p.Lys67Glu) rs1555149950
NM_001005242.3(PKP2):c.2003G>A (p.Gly668Glu) rs1348373466
NM_001005242.3(PKP2):c.2006G>A (p.Ser669Asn)
NM_001005242.3(PKP2):c.2013A>G (p.Pro671=) rs1956373944
NM_001005242.3(PKP2):c.2017C>A (p.Pro673Thr)
NM_001005242.3(PKP2):c.2024C>T (p.Ser675Leu)
NM_001005242.3(PKP2):c.2037A>G (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.2037A>T (p.Thr679=) rs377504106
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs) rs397517021
NM_001005242.3(PKP2):c.2067C>T (p.His689=) rs2137725631
NM_001005242.3(PKP2):c.206G>T (p.Arg69Leu) rs1388260138
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter) rs121434421
NM_001005242.3(PKP2):c.2098A>G (p.Ser700Gly)
NM_001005242.3(PKP2):c.20C>A (p.Pro7Gln)
NM_001005242.3(PKP2):c.2123T>G (p.Leu708Arg)
NM_001005242.3(PKP2):c.2124G>T (p.Leu708=)
NM_001005242.3(PKP2):c.2167+1G>A rs794729116
NM_001005242.3(PKP2):c.2167+1G>T rs794729116
NM_001005242.3(PKP2):c.2168-4G>C rs376231586
NM_001005242.3(PKP2):c.2168-4G>T rs376231586
NM_001005242.3(PKP2):c.2171A>G (p.Lys724Arg)
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs) rs1064794350
NM_001005242.3(PKP2):c.2181C>T (p.Leu727=) rs1032835001
NM_001005242.3(PKP2):c.218dup (p.Asn74fs) rs1257456477
NM_001005242.3(PKP2):c.2203C>G (p.Pro735Ala)
NM_001005242.3(PKP2):c.2222C>T (p.Thr741Ile)
NM_001005242.3(PKP2):c.2234T>A (p.Ile745Asn) rs543233804
NM_001005242.3(PKP2):c.224-1639_274del
NM_001005242.3(PKP2):c.224-3C>G rs786204387
NM_001005242.3(PKP2):c.2248T>G (p.Ser750Ala) rs1431341096
NM_001005242.3(PKP2):c.2254T>C (p.Cys752Arg) rs794729098
NM_001005242.3(PKP2):c.2287T>C (p.Tyr763His)
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.2299C>T (p.Arg767Cys) rs139734328
NM_001005242.3(PKP2):c.230T>C (p.Leu77Pro) rs754446972
NM_001005242.3(PKP2):c.234C>T (p.His78=) rs1591829350
NM_001005242.3(PKP2):c.2352C>A (p.Gly784=)
NM_001005242.3(PKP2):c.2357+2dup
NM_001005242.3(PKP2):c.2357+5G>A rs1555141020
NM_001005242.3(PKP2):c.2357C>A (p.Ala786Asp) rs1057518582
NM_001005242.3(PKP2):c.2377del (p.Ser793fs) rs727504432
NM_001005242.3(PKP2):c.2385del (p.Ala796fs)
NM_001005242.3(PKP2):c.2395C>G (p.Leu799Val)
NM_001005242.3(PKP2):c.2415A>G (p.Ala805=)
NM_001005242.3(PKP2):c.2418C>T (p.His806=) rs756749174
NM_001005242.3(PKP2):c.2429A>T (p.His810Leu) rs886039193
NM_001005242.3(PKP2):c.2485G>T (p.Ala829Ser) rs1046323987
NM_001005242.3(PKP2):c.2499C>A (p.His833Gln) rs202094467
NM_001005242.3(PKP2):c.252T>G (p.Pro84=) rs1591829338
NM_001005242.3(PKP2):c.253G>C (p.Glu85Gln)
NM_001005242.3(PKP2):c.253G>T (p.Glu85Ter) rs2137953226
NM_001005242.3(PKP2):c.253_256del (p.Glu85fs) rs786204388
NM_001005242.3(PKP2):c.257dup (p.Tyr86Ter) rs1555148271
NM_001005242.3(PKP2):c.263A>G (p.Tyr88Cys)
NM_001005242.3(PKP2):c.270_273delinsTGGTTGTAGATGATT (p.His91delinsGlyCysArgTer)
NM_001005242.3(PKP2):c.273C>T (p.His91=)
NM_001005242.3(PKP2):c.274T>G (p.Leu92Val) rs773851296
NM_001005242.3(PKP2):c.292G>A (p.Val98Ile)
NM_001005242.3(PKP2):c.296G>A (p.Gly99Glu)
NM_001005242.3(PKP2):c.302G>T (p.Arg101Leu)
NM_001005242.3(PKP2):c.307C>G (p.Pro103Ala) rs139215336
NM_001005242.3(PKP2):c.307C>T (p.Pro103Ser) rs139215336
NM_001005242.3(PKP2):c.323A>G (p.Tyr108Cys)
NM_001005242.3(PKP2):c.32G>A (p.Gly11Asp)
NM_001005242.3(PKP2):c.337-2A>T rs786204389
NM_001005242.3(PKP2):c.337-4G>A rs751175344
NM_001005242.3(PKP2):c.365G>T (p.Arg122Leu) rs201306582
NM_001005242.3(PKP2):c.368G>A (p.Trp123Ter) rs760576804
NM_001005242.3(PKP2):c.369G>A (p.Trp123Ter) rs774663443
NM_001005242.3(PKP2):c.36C>T (p.Tyr12=)
NM_001005242.3(PKP2):c.397C>T (p.Gln133Ter) rs794729132
NM_001005242.3(PKP2):c.405C>G (p.Ser135=)
NM_001005242.3(PKP2):c.406G>A (p.Val136Met) rs567795321
NM_001005242.3(PKP2):c.429T>A (p.His143Gln)
NM_001005242.3(PKP2):c.451del (p.Ser151fs)
NM_001005242.3(PKP2):c.459C>G (p.Asp153Glu)
NM_001005242.3(PKP2):c.465C>T (p.Ser155=)
NM_001005242.3(PKP2):c.474G>A (p.Arg158=)
NM_001005242.3(PKP2):c.476C>T (p.Ala159Val)
NM_001005242.3(PKP2):c.486G>C (p.Thr162=)
NM_001005242.3(PKP2):c.486G>T (p.Thr162=)
NM_001005242.3(PKP2):c.529A>G (p.Thr177Ala) rs1956954122
NM_001005242.3(PKP2):c.533T>C (p.Leu178Pro)
NM_001005242.3(PKP2):c.549_551del (p.Ser183del) rs1358236902
NM_001005242.3(PKP2):c.558C>A (p.Ala186=)
NM_001005242.3(PKP2):c.56A>C (p.Gln19Pro)
NM_001005242.3(PKP2):c.592G>A (p.Glu198Lys) rs1040585677
NM_001005242.3(PKP2):c.597C>T (p.Ile199=) rs866985131
NM_001005242.3(PKP2):c.613G>C (p.Ala205Pro)
NM_001005242.3(PKP2):c.623del (p.Thr208fs) rs794729122
NM_001005242.3(PKP2):c.625A>G (p.Ser209Gly)
NM_001005242.3(PKP2):c.629G>A (p.Arg210Lys) rs1555148132
NM_001005242.3(PKP2):c.635G>T (p.Arg212Leu)
NM_001005242.3(PKP2):c.656G>A (p.Arg219Lys)
NM_001005242.3(PKP2):c.671G>T (p.Gly224Val)
NM_001005242.3(PKP2):c.672C>T (p.Gly224=) rs2137948758
NM_001005242.3(PKP2):c.6A>C (p.Ala2=)
NM_001005242.3(PKP2):c.717C>T (p.Ala239=) rs143777637
NM_001005242.3(PKP2):c.730C>G (p.Pro244Ala) rs756376477
NM_001005242.3(PKP2):c.743C>T (p.Thr248Ile)
NM_001005242.3(PKP2):c.749G>A (p.Arg250His) rs369332786
NM_001005242.3(PKP2):c.749G>T (p.Arg250Leu) rs369332786
NM_001005242.3(PKP2):c.750C>T (p.Arg250=) rs1327751203
NM_001005242.3(PKP2):c.755T>C (p.Met252Thr)
NM_001005242.3(PKP2):c.771G>A (p.Glu257=) rs1060504159
NM_001005242.3(PKP2):c.795_811dup (p.Val271fs) rs1555148090
NM_001005242.3(PKP2):c.810G>A (p.Gln270=)
NM_001005242.3(PKP2):c.822G>C (p.Leu274=)
NM_001005242.3(PKP2):c.823G>A (p.Val275Met)
NM_001005242.3(PKP2):c.887A>C (p.His296Pro)
NM_001005242.3(PKP2):c.899C>T (p.Thr300Met) rs553098424
NM_001005242.3(PKP2):c.916C>T (p.Pro306Ser) rs1209340253
NM_001005242.3(PKP2):c.949G>A (p.Ala317Thr)
NM_001005242.3(PKP2):c.959C>T (p.Thr320Ile)
NM_001005242.3(PKP2):c.963del (p.Gly322fs)
NM_001005242.3(PKP2):c.964G>T (p.Gly322Cys) rs200069860
NM_001005242.3(PKP2):c.964_977del (p.Gly322fs)
NM_001005242.3(PKP2):c.968_971inv (p.Gln323_Ala324delinsArgLeu)
NM_001005242.3(PKP2):c.969G>C (p.Gln323His) rs879170191
NM_001005242.3(PKP2):c.971_972insT (p.Ala325fs)
NM_001005242.3(PKP2):c.974C>G (p.Ala325Gly)
NM_001005242.3(PKP2):c.980G>C (p.Gly327Ala) rs759660796
NM_001005242.3(PKP2):c.980G>T (p.Gly327Val) rs759660796
NM_001005242.3(PKP2):c.985A>G (p.Ser329Gly) rs779173447
NM_001005242.3(PKP2):c.989G>A (p.Gly330Glu) rs373041797
NM_001005242.3(PKP2):c.991A>G (p.Asn331Asp)

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