ClinVar Miner

List of variants in gene JUP reported as uncertain significance for Naxos disease; Arrhythmogenic right ventricular dysplasia 12

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Gene type:
ClinVar version:
Total variants: 565
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.*771G>C rs569650118 0.00130
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817 0.00036
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503 0.00019
NM_002230.4(JUP):c.1582G>A (p.Val528Ile) rs368271628 0.00018
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_002230.4(JUP):c.*413C>T rs559600252 0.00015
NM_002230.4(JUP):c.545C>T (p.Ser182Leu) rs145592971 0.00013
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_002230.4(JUP):c.1565C>T (p.Ala522Val) rs1060502679 0.00010
NM_002230.4(JUP):c.608G>A (p.Arg203His) rs200221163 0.00010
NM_002230.4(JUP):c.926A>G (p.Asn309Ser) rs140606359 0.00010
NM_002230.3(JUP):c.*1136C>T rs539534709 0.00009
NM_002230.4(JUP):c.1372G>A (p.Ala458Thr) rs139559495 0.00009
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) rs752594411 0.00009
NM_002230.4(JUP):c.578T>C (p.Met193Thr) rs139496777 0.00009
NM_002230.4(JUP):c.892G>A (p.Gly298Ser) rs199597864 0.00009
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266 0.00008
NM_002230.4(JUP):c.809T>A (p.Leu270Gln) rs794729040 0.00008
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu) rs782622653 0.00007
NM_002230.4(JUP):c.356C>T (p.Pro119Leu) rs376123010 0.00007
NM_002230.4(JUP):c.427G>A (p.Ala143Thr) rs375788626 0.00007
NM_002230.4(JUP):c.526C>T (p.Arg176Trp) rs368336007 0.00007
NM_002230.4(JUP):c.529C>T (p.Arg177Trp) rs148484473 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_002230.4(JUP):c.109G>A (p.Val37Ile) rs150769772 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_002230.4(JUP):c.2167_2172del (p.Asp723_Tyr724del) rs782439900 0.00006
NM_002230.4(JUP):c.530G>A (p.Arg177Gln) rs371481933 0.00006
NM_002230.4(JUP):c.568G>A (p.Val190Met) rs370143312 0.00006
NM_002230.4(JUP):c.778G>A (p.Ala260Thr) rs149623442 0.00006
NM_002230.4(JUP):c.*906A>C rs569644513 0.00005
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr) rs782301706 0.00005
NM_002230.4(JUP):c.1130G>A (p.Arg377His) rs794729044 0.00005
NM_002230.4(JUP):c.2102A>G (p.Tyr701Cys) rs781857012 0.00005
NM_002230.4(JUP):c.412G>A (p.Glu138Lys) rs150245906 0.00005
NM_002230.4(JUP):c.460G>A (p.Glu154Lys) rs782765314 0.00005
NM_002230.4(JUP):c.989C>A (p.Thr330Asn) rs782145797 0.00005
NM_002230.4(JUP):c.998G>A (p.Arg333His) rs727503099 0.00005
NM_002230.4(JUP):c.1035G>C (p.Lys345Asn) rs150194093 0.00004
NM_002230.4(JUP):c.115A>G (p.Ser39Gly) rs782211863 0.00004
NM_002230.4(JUP):c.1219G>A (p.Val407Ile) rs370913228 0.00004
NM_002230.4(JUP):c.1280C>T (p.Thr427Met) rs781982717 0.00004
NM_002230.4(JUP):c.1331G>A (p.Arg444His) rs369507567 0.00004
NM_002230.4(JUP):c.1359G>T (p.Glu453Asp) rs376608339 0.00004
NM_002230.4(JUP):c.1430G>A (p.Arg477His) rs781788038 0.00004
NM_002230.4(JUP):c.1486C>A (p.Pro496Thr) rs1220042864 0.00004
NM_002230.4(JUP):c.1550C>T (p.Pro517Leu) rs781988240 0.00004
NM_002230.4(JUP):c.161C>T (p.Thr54Met) rs782529328 0.00004
NM_002230.4(JUP):c.1653G>A (p.Thr551=) rs782044013 0.00004
NM_002230.4(JUP):c.1715G>A (p.Arg572Gln) rs397517298 0.00004
NM_002230.4(JUP):c.1880C>T (p.Ser627Leu) rs781883243 0.00004
NM_002230.4(JUP):c.1882G>A (p.Ala628Thr) rs730880114 0.00004
NM_002230.4(JUP):c.1912A>C (p.Asn638His) rs782658008 0.00004
NM_002230.4(JUP):c.2104C>T (p.Arg702Cys) rs545547083 0.00004
NM_002230.4(JUP):c.2105G>A (p.Arg702His) rs200690479 0.00004
NM_002230.4(JUP):c.2122G>A (p.Asp708Asn) rs781804177 0.00004
NM_002230.4(JUP):c.2128C>T (p.Pro710Ser) rs782693565 0.00004
NM_002230.4(JUP):c.257G>A (p.Arg86Gln) rs782341732 0.00004
NM_002230.4(JUP):c.329C>T (p.Ala110Val) rs782770278 0.00004
NM_002230.4(JUP):c.493A>G (p.Ile165Val) rs782461741 0.00004
NM_002230.4(JUP):c.607C>T (p.Arg203Cys) rs147354282 0.00004
NM_002230.4(JUP):c.624C>G (p.Ile208Met) rs566435665 0.00004
NM_002230.4(JUP):c.746C>T (p.Thr249Met) rs377612199 0.00004
NM_002230.4(JUP):c.1099C>G (p.Arg367Gly) rs76416187 0.00003
NM_002230.4(JUP):c.1222C>T (p.Leu408Phe) rs369755953 0.00003
NM_002230.4(JUP):c.1235C>T (p.Thr412Met) rs782551865 0.00003
NM_002230.4(JUP):c.1379G>A (p.Arg460His) rs397517296 0.00003
NM_002230.4(JUP):c.1439A>G (p.Tyr480Cys) rs782756834 0.00003
NM_002230.4(JUP):c.1729C>T (p.Arg577Cys) rs782354654 0.00003
NM_002230.4(JUP):c.1933G>A (p.Ala645Thr) rs727504778 0.00003
NM_002230.4(JUP):c.1996G>A (p.Val666Met) rs372369061 0.00003
NM_002230.4(JUP):c.2021A>G (p.Lys674Arg) rs1914011596 0.00003
NM_002230.4(JUP):c.2189G>A (p.Ser730Asn) rs782261124 0.00003
NM_002230.4(JUP):c.332C>T (p.Thr111Ile) rs782080859 0.00003
NM_002230.4(JUP):c.467C>T (p.Pro156Leu) rs782052422 0.00003
NM_002230.4(JUP):c.509C>T (p.Ser170Leu) rs782284038 0.00003
NM_002230.4(JUP):c.1324A>T (p.Ile442Phe) rs142213474 0.00002
NM_002230.4(JUP):c.1354A>T (p.Thr452Ser) rs794729045 0.00002
NM_002230.4(JUP):c.148G>A (p.Gly50Arg) rs374008304 0.00002
NM_002230.4(JUP):c.1490T>G (p.Leu497Arg) rs1327324458 0.00002
NM_002230.4(JUP):c.1513A>G (p.Ile505Val) rs955019712 0.00002
NM_002230.4(JUP):c.1618C>T (p.Arg540Cys) rs782455234 0.00002
NM_002230.4(JUP):c.1714C>T (p.Arg572Trp) rs559297418 0.00002
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala) rs782653485 0.00002
NM_002230.4(JUP):c.1804C>T (p.Arg602Cys) rs199511559 0.00002
NM_002230.4(JUP):c.1850C>T (p.Ala617Val) rs782465804 0.00002
NM_002230.4(JUP):c.1865A>T (p.Asp622Val) rs1021325325 0.00002
NM_002230.4(JUP):c.2153T>C (p.Met718Thr) rs782336064 0.00002
NM_002230.4(JUP):c.2191G>A (p.Asp731Asn) rs782647137 0.00002
NM_002230.4(JUP):c.2194G>A (p.Gly732Ser) rs781885294 0.00002
NM_002230.4(JUP):c.274G>T (p.Gly92Cys) rs781875765 0.00002
NM_002230.4(JUP):c.286G>A (p.Glu96Lys) rs191683892 0.00002
NM_002230.4(JUP):c.436G>A (p.Glu146Lys) rs146581757 0.00002
NM_002230.4(JUP):c.502C>G (p.Gln168Glu) rs1322804388 0.00002
NM_002230.4(JUP):c.521C>T (p.Ala174Val) rs146786437 0.00002
NM_002230.4(JUP):c.524C>T (p.Ser175Leu) rs782435477 0.00002
NM_002230.4(JUP):c.533C>T (p.Ala178Val) rs781976753 0.00002
NM_002230.4(JUP):c.572G>A (p.Arg191His) rs143502391 0.00002
NM_002230.4(JUP):c.646C>T (p.Arg216Trp) rs1490199319 0.00002
NM_002230.4(JUP):c.675G>A (p.Ser225=) rs782063643 0.00002
NM_002230.4(JUP):c.682A>G (p.Ile228Val) rs374566089 0.00002
NM_002230.4(JUP):c.833A>G (p.Asn278Ser) rs541560189 0.00002
NM_002230.4(JUP):c.951G>C (p.Gln317His) rs782215140 0.00002
NM_002230.4(JUP):c.964T>C (p.Tyr322His) rs557075259 0.00002
NM_002230.4(JUP):c.100G>A (p.Val34Met) rs794729029 0.00001
NM_002230.4(JUP):c.1069C>G (p.Leu357Val) rs1455055075 0.00001
NM_002230.4(JUP):c.107C>T (p.Ser36Phe) rs1555607036 0.00001
NM_002230.4(JUP):c.1096C>A (p.Pro366Thr) rs782690097 0.00001
NM_002230.4(JUP):c.1096C>G (p.Pro366Ala) rs782690097 0.00001
NM_002230.4(JUP):c.1100G>T (p.Arg367Leu) rs782067441 0.00001
NM_002230.4(JUP):c.1129C>A (p.Arg377Ser) rs368564000 0.00001
NM_002230.4(JUP):c.1158+2_1158+4dup rs782280458 0.00001
NM_002230.4(JUP):c.1204G>A (p.Val402Met) rs782241125 0.00001
NM_002230.4(JUP):c.1213G>A (p.Val405Ile) rs200019016 0.00001
NM_002230.4(JUP):c.1236G>A (p.Thr412=) rs376391674 0.00001
NM_002230.4(JUP):c.1262A>G (p.Asn421Ser) rs782135453 0.00001
NM_002230.4(JUP):c.1300G>A (p.Gly434Ser) rs1555602250 0.00001
NM_002230.4(JUP):c.1308G>T (p.Glu436Asp) rs782594495 0.00001
NM_002230.4(JUP):c.1330C>T (p.Arg444Cys) rs781793865 0.00001
NM_002230.4(JUP):c.1333G>C (p.Ala445Pro) rs782465430 0.00001
NM_002230.4(JUP):c.1336G>T (p.Gly446Cys) rs781876461 0.00001
NM_002230.4(JUP):c.1355C>T (p.Thr452Met) rs781888888 0.00001
NM_002230.4(JUP):c.136G>A (p.Asp46Asn) rs782308879 0.00001
NM_002230.4(JUP):c.1378C>T (p.Arg460Cys) rs782575391 0.00001
NM_002230.4(JUP):c.1391G>A (p.Ser464Asn) rs1060502681 0.00001
NM_002230.4(JUP):c.1394G>A (p.Arg465His) rs369486398 0.00001
NM_002230.4(JUP):c.1400C>T (p.Pro467Leu) rs782667501 0.00001
NM_002230.4(JUP):c.151C>T (p.Arg51Cys) rs782254006 0.00001
NM_002230.4(JUP):c.152G>A (p.Arg51His) rs571707598 0.00001
NM_002230.4(JUP):c.1555C>G (p.Gln519Glu) rs139454583 0.00001
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys) rs782309611 0.00001
NM_002230.4(JUP):c.1586A>T (p.Gln529Leu) rs1914310860 0.00001
NM_002230.4(JUP):c.1606C>G (p.Gln536Glu) rs782683108 0.00001
NM_002230.4(JUP):c.160A>G (p.Thr54Ala) rs781784933 0.00001
NM_002230.4(JUP):c.1619G>T (p.Arg540Leu) rs376881608 0.00001
NM_002230.4(JUP):c.1624G>A (p.Val542Ile) rs571375136 0.00001
NM_002230.4(JUP):c.1631C>T (p.Ala544Val) rs782762751 0.00001
NM_002230.4(JUP):c.1652C>T (p.Thr551Met) rs1038719021 0.00001
NM_002230.4(JUP):c.1667T>C (p.Met556Thr) rs781884735 0.00001
NM_002230.4(JUP):c.1730G>A (p.Arg577His) rs373434456 0.00001
NM_002230.4(JUP):c.1744C>T (p.Arg582Trp) rs782205755 0.00001
NM_002230.4(JUP):c.1760C>T (p.Pro587Leu) rs782490959 0.00001
NM_002230.4(JUP):c.1780T>A (p.Tyr594Asn) rs1555599033 0.00001
NM_002230.4(JUP):c.1787C>T (p.Ser596Leu) rs940226194 0.00001
NM_002230.4(JUP):c.1805G>A (p.Arg602His) rs909955430 0.00001
NM_002230.4(JUP):c.1868C>G (p.Ala623Gly) rs782760341 0.00001
NM_002230.4(JUP):c.1873G>C (p.Gly625Arg) rs1060502678 0.00001
NM_002230.4(JUP):c.1876G>A (p.Ala626Thr) rs782547688 0.00001
NM_002230.4(JUP):c.1883C>T (p.Ala628Val) rs1475273502 0.00001
NM_002230.4(JUP):c.1885C>T (p.Pro629Ser) rs1188860546 0.00001
NM_002230.4(JUP):c.1916A>G (p.Glu639Gly) rs1914057795 0.00001
NM_002230.4(JUP):c.1920C>T (p.Gly640=) rs376699725 0.00001
NM_002230.4(JUP):c.1990G>A (p.Val664Met) rs782695128 0.00001
NM_002230.4(JUP):c.200C>T (p.Pro67Leu) rs1427489722 0.00001
NM_002230.4(JUP):c.2060T>C (p.Ile687Thr) rs1181838480 0.00001
NM_002230.4(JUP):c.2078A>G (p.Tyr693Cys) rs782475413 0.00001
NM_002230.4(JUP):c.2084A>G (p.Asp695Gly) rs781859850 0.00001
NM_002230.4(JUP):c.2099C>T (p.Thr700Ile) rs1913627808 0.00001
NM_002230.4(JUP):c.211G>T (p.Asp71Tyr) rs781869872 0.00001
NM_002230.4(JUP):c.2132T>C (p.Leu711Pro) rs782096012 0.00001
NM_002230.4(JUP):c.2149C>G (p.His717Asp) rs1347008405 0.00001
NM_002230.4(JUP):c.2179G>A (p.Asp727Asn) rs1285789744 0.00001
NM_002230.4(JUP):c.21G>C (p.Met7Ile) rs782076076 0.00001
NM_002230.4(JUP):c.250C>T (p.Arg84Trp) rs782306414 0.00001
NM_002230.4(JUP):c.251G>A (p.Arg84Gln) rs782061304 0.00001
NM_002230.4(JUP):c.256C>T (p.Arg86Trp) rs782240305 0.00001
NM_002230.4(JUP):c.266T>C (p.Met89Thr) rs542745694 0.00001
NM_002230.4(JUP):c.285C>T (p.Gly95=) rs1555605900 0.00001
NM_002230.4(JUP):c.296C>T (p.Ser99Leu) rs554046226 0.00001
NM_002230.4(JUP):c.311C>A (p.Thr104Asn) rs1185864978 0.00001
NM_002230.4(JUP):c.315G>C (p.Gln105His) rs375489362 0.00001
NM_002230.4(JUP):c.335A>G (p.Asn112Ser) rs372364561 0.00001
NM_002230.4(JUP):c.344G>A (p.Arg115Gln) rs369722007 0.00001
NM_002230.4(JUP):c.374C>T (p.Ser125Leu) rs782527770 0.00001
NM_002230.4(JUP):c.406G>A (p.Asp136Asn) rs782392706 0.00001
NM_002230.4(JUP):c.424C>T (p.Arg142Cys) rs199591001 0.00001
NM_002230.4(JUP):c.485C>T (p.Ala162Val) rs369121094 0.00001
NM_002230.4(JUP):c.494T>C (p.Ile165Thr) rs1254146503 0.00001
NM_002230.4(JUP):c.562G>A (p.Ala188Thr) rs782585387 0.00001
NM_002230.4(JUP):c.571C>T (p.Arg191Cys) rs781905238 0.00001
NM_002230.4(JUP):c.592G>A (p.Asp198Asn) rs782799529 0.00001
NM_002230.4(JUP):c.601A>G (p.Thr201Ala) rs781999758 0.00001
NM_002230.4(JUP):c.628C>T (p.His210Tyr) rs1567818128 0.00001
NM_002230.4(JUP):c.647G>A (p.Arg216Gln) rs782498980 0.00001
NM_002230.4(JUP):c.661G>A (p.Ala221Thr) rs782076415 0.00001
NM_002230.4(JUP):c.674C>T (p.Ser225Leu) rs782685734 0.00001
NM_002230.4(JUP):c.680G>A (p.Gly227Asp) rs782010606 0.00001
NM_002230.4(JUP):c.697C>T (p.Arg233Cys) rs529126058 0.00001
NM_002230.4(JUP):c.698G>A (p.Arg233His) rs1304500107 0.00001
NM_002230.4(JUP):c.707+5C>A rs375580484 0.00001
NM_002230.4(JUP):c.71C>T (p.Ser24Leu) rs782460555 0.00001
NM_002230.4(JUP):c.764T>G (p.Leu255Arg) rs878854482 0.00001
NM_002230.4(JUP):c.782A>G (p.Lys261Arg) rs782527507 0.00001
NM_002230.4(JUP):c.788C>T (p.Ala263Val) rs1287470595 0.00001
NM_002230.4(JUP):c.794G>A (p.Arg265His) rs782440692 0.00001
NM_002230.4(JUP):c.818T>C (p.Met273Thr) rs782091454 0.00001
NM_002230.4(JUP):c.849G>T (p.Lys283Asn) rs794729054 0.00001
NM_002230.4(JUP):c.868G>A (p.Asp290Asn) rs982161216 0.00001
NM_002230.4(JUP):c.884T>C (p.Leu295Pro) rs1567815863 0.00001
NM_002230.4(JUP):c.88G>A (p.Ala30Thr) rs782733459 0.00001
NM_002230.4(JUP):c.928G>A (p.Gly310Ser) rs1597808505 0.00001
NM_002230.4(JUP):c.946G>A (p.Val316Met) rs782285849 0.00001
NM_002230.4(JUP):c.950A>T (p.Gln317Leu) rs782509792 0.00001
NM_002230.4(JUP):c.967A>G (p.Ser323Gly) rs781857323 0.00001
NM_002230.4(JUP):c.997C>T (p.Arg333Cys) rs782031185 0.00001
NC_000017.10:g.(?_39911986)_(39928116_?)dup
NC_000017.10:g.(?_39923611)_(39928106_?)dup
NC_000017.11:g.41765066_41765068dup rs1567812900
NM_002230.4(JUP):c.*1026G>A rs187950810
NM_002230.4(JUP):c.1000G>A (p.Val334Met)
NM_002230.4(JUP):c.1013T>C (p.Leu338Pro) rs2143598327
NM_002230.4(JUP):c.1022G>A (p.Cys341Tyr) rs1567812537
NM_002230.4(JUP):c.1028G>A (p.Ser343Asn) rs1597808088
NM_002230.4(JUP):c.1036C>T (p.Pro346Ser)
NM_002230.4(JUP):c.1040C>T (p.Ala347Val) rs1915466603
NM_002230.4(JUP):c.1046T>C (p.Val349Ala)
NM_002230.4(JUP):c.1049A>G (p.Glu350Gly) rs1915464336
NM_002230.4(JUP):c.1054+3G>A
NM_002230.4(JUP):c.1055-3C>G rs1597807473
NM_002230.4(JUP):c.1057G>A (p.Gly353Arg)
NM_002230.4(JUP):c.1072G>A (p.Gly358Ser)
NM_002230.4(JUP):c.1072G>C (p.Gly358Arg) rs1915435636
NM_002230.4(JUP):c.1082T>C (p.Leu361Pro) rs2143593694
NM_002230.4(JUP):c.1085C>G (p.Thr362Ser)
NM_002230.4(JUP):c.1085C>T (p.Thr362Ile) rs1915432778
NM_002230.4(JUP):c.1088G>T (p.Ser363Ile) rs2143593479
NM_002230.4(JUP):c.1095C>A (p.Ser365Arg)
NM_002230.4(JUP):c.1096C>T (p.Pro366Ser)
NM_002230.4(JUP):c.1097C>T (p.Pro366Leu)
NM_002230.4(JUP):c.1099C>T (p.Arg367Cys)
NM_002230.4(JUP):c.1100G>A (p.Arg367His) rs782067441
NM_002230.4(JUP):c.1113C>A (p.Asn371Lys) rs782009178
NM_002230.4(JUP):c.1120T>C (p.Trp374Arg)
NM_002230.4(JUP):c.1127T>C (p.Leu376Pro)
NM_002230.4(JUP):c.1129C>T (p.Arg377Cys) rs368564000
NM_002230.4(JUP):c.1139C>T (p.Ser380Leu)
NM_002230.4(JUP):c.113GCA[1] (p.Ser39del) rs113994176
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup) rs113994176
NM_002230.4(JUP):c.114C>A (p.Ser38Arg) rs782391511
NM_002230.4(JUP):c.1163G>A (p.Gly388Asp) rs1555602470
NM_002230.4(JUP):c.1193A>G (p.Asn398Ser)
NM_002230.4(JUP):c.11T>A (p.Met4Lys)
NM_002230.4(JUP):c.1207G>T (p.Asp403Tyr)
NM_002230.4(JUP):c.1212C>A (p.Asp404Glu) rs1482026041
NM_002230.4(JUP):c.1218C>A (p.Asn406Lys)
NM_002230.4(JUP):c.121G>A (p.Gly41Ser)
NM_002230.4(JUP):c.122G>A (p.Gly41Asp)
NM_002230.4(JUP):c.1232C>T (p.Ala411Val) rs1060502680
NM_002230.4(JUP):c.1241C>T (p.Thr414Ile)
NM_002230.4(JUP):c.1243C>G (p.Leu415Val)
NM_002230.4(JUP):c.1247C>T (p.Ser416Phe)
NM_002230.4(JUP):c.1258T>C (p.Cys420Arg)
NM_002230.4(JUP):c.1268G>A (p.Ser423Asn)
NM_002230.4(JUP):c.1273A>G (p.Asn425Asp)
NM_002230.4(JUP):c.127A>G (p.Met43Val) rs1916678676
NM_002230.4(JUP):c.1283T>C (p.Leu428Pro)
NM_002230.4(JUP):c.129G>A (p.Met43Ile) rs1555606996
NM_002230.4(JUP):c.1301G>A (p.Gly434Asp)
NM_002230.4(JUP):c.1306G>A (p.Glu436Lys) rs1915172914
NM_002230.4(JUP):c.1312C>G (p.Leu438Val)
NM_002230.4(JUP):c.1318C>T (p.His440Tyr) rs1555602228
NM_002230.4(JUP):c.1320T>A (p.His440Gln)
NM_002230.4(JUP):c.1322C>A (p.Ala441Asp)
NM_002230.4(JUP):c.1328T>C (p.Leu443Pro)
NM_002230.4(JUP):c.1337G>A (p.Gly446Asp)
NM_002230.4(JUP):c.1339G>A (p.Asp447Asn) rs1915164389
NM_002230.4(JUP):c.133G>A (p.Glu45Lys)
NM_002230.4(JUP):c.1346A>G (p.Asp449Gly)
NM_002230.4(JUP):c.1346A>T (p.Asp449Val) rs1174382765
NM_002230.4(JUP):c.1348G>A (p.Asp450Asn)
NM_002230.4(JUP):c.1351A>G (p.Ile451Val)
NM_002230.4(JUP):c.135G>C (p.Glu45Asp) rs2143735253
NM_002230.4(JUP):c.1360C>T (p.Pro454Ser)
NM_002230.4(JUP):c.136G>T (p.Asp46Tyr)
NM_002230.4(JUP):c.1384C>T (p.Leu462Phe)
NM_002230.4(JUP):c.1388C>G (p.Thr463Ser)
NM_002230.4(JUP):c.1393C>T (p.Arg465Cys)
NM_002230.4(JUP):c.1398C>A (p.His466Gln) rs1555602097
NM_002230.4(JUP):c.1410G>C (p.Glu470Asp) rs2143559758
NM_002230.4(JUP):c.1417C>G (p.Gln473Glu)
NM_002230.4(JUP):c.1429C>T (p.Arg477Cys)
NM_002230.4(JUP):c.142G>C (p.Ala48Pro)
NM_002230.4(JUP):c.1432C>T (p.Leu478Phe)
NM_002230.4(JUP):c.143C>A (p.Ala48Asp) rs2143735114
NM_002230.4(JUP):c.1442G>T (p.Gly481Val)
NM_002230.4(JUP):c.1455C>G (p.Ile485Met)
NM_002230.4(JUP):c.1456G>A (p.Val486Met)
NM_002230.4(JUP):c.1457T>G (p.Val486Gly) rs2143558868
NM_002230.4(JUP):c.1469A>G (p.Asn490Ser)
NM_002230.4(JUP):c.1470C>G (p.Asn490Lys)
NM_002230.4(JUP):c.1479C>G (p.Asn493Lys)
NM_002230.4(JUP):c.1480C>A (p.Gln494Lys)
NM_002230.4(JUP):c.1481A>G (p.Gln494Arg) rs2143558258
NM_002230.4(JUP):c.1482G>C (p.Gln494His) rs1367975995
NM_002230.4(JUP):c.1495A>C (p.Lys499Gln) rs782395614
NM_002230.4(JUP):c.1512G>T (p.Leu504Phe)
NM_002230.4(JUP):c.1525G>T (p.Ala509Ser) rs1555599847
NM_002230.4(JUP):c.1534C>G (p.Pro512Ala)
NM_002230.4(JUP):c.1544A>G (p.His515Arg) rs2143460147
NM_002230.4(JUP):c.1546G>A (p.Ala516Thr) rs2143460021
NM_002230.4(JUP):c.1547C>A (p.Ala516Asp) rs1255846046
NM_002230.4(JUP):c.1549C>T (p.Pro517Ser)
NM_002230.4(JUP):c.154C>A (p.Gln52Lys)
NM_002230.4(JUP):c.1556A>T (p.Gln519Leu) rs1060502677
NM_002230.4(JUP):c.1563_1565dup (p.Ala522_Val523insAla)
NM_002230.4(JUP):c.1565C>A (p.Ala522Glu) rs1060502679
NM_002230.4(JUP):c.1570A>G (p.Ile524Val)
NM_002230.4(JUP):c.1573C>T (p.Pro525Ser) rs1914314355
NM_002230.4(JUP):c.1574C>T (p.Pro525Leu)
NM_002230.4(JUP):c.1576C>A (p.Arg526Ser) rs782309611
NM_002230.4(JUP):c.1597A>G (p.Lys533Glu)
NM_002230.4(JUP):c.1619G>A (p.Arg540His) rs376881608
NM_002230.4(JUP):c.1622A>T (p.His541Leu) rs782449369
NM_002230.4(JUP):c.1625T>C (p.Val542Ala) rs2143457194
NM_002230.4(JUP):c.1634G>A (p.Gly545Asp)
NM_002230.4(JUP):c.1635C>T (p.Gly545=)
NM_002230.4(JUP):c.1642C>G (p.Gln548Glu)
NM_002230.4(JUP):c.1646C>A (p.Pro549His) rs1555599683
NM_002230.4(JUP):c.1653+4T>A
NM_002230.4(JUP):c.1653+5G>C
NM_002230.4(JUP):c.1653G>T (p.Thr551=)
NM_002230.4(JUP):c.1654G>A (p.Asp552Asn) rs2143451579
NM_002230.4(JUP):c.1658G>C (p.Gly553Ala) rs782759301
NM_002230.4(JUP):c.1658G>T (p.Gly553Val)
NM_002230.4(JUP):c.1688G>A (p.Cys563Tyr) rs142006878
NM_002230.4(JUP):c.1697C>G (p.Ala566Gly)
NM_002230.4(JUP):c.1702C>T (p.His568Tyr) rs794729048
NM_002230.4(JUP):c.1705A>T (p.Ile569Phe) rs370101446
NM_002230.4(JUP):c.1711G>A (p.Ala571Thr) rs397517297
NM_002230.4(JUP):c.1711G>T (p.Ala571Ser) rs397517297
NM_002230.4(JUP):c.1715G>T (p.Arg572Leu) rs397517298
NM_002230.4(JUP):c.1717G>T (p.Asp573Tyr)
NM_002230.4(JUP):c.1725G>T (p.Met575Ile)
NM_002230.4(JUP):c.1738A>T (p.Ile580Phe)
NM_002230.4(JUP):c.1745G>A (p.Arg582Gln) rs781828085
NM_002230.4(JUP):c.1759C>T (p.Pro587Ser)
NM_002230.4(JUP):c.1762C>G (p.Leu588Val)
NM_002230.4(JUP):c.1773+3G>A rs1460748612
NM_002230.4(JUP):c.1774C>G (p.Leu592Val)
NM_002230.4(JUP):c.1778T>A (p.Leu593Gln)
NM_002230.4(JUP):c.1792_1794del (p.Glu598del)
NM_002230.4(JUP):c.1796A>G (p.Asn599Ser) rs1257379135
NM_002230.4(JUP):c.1803G>C (p.Gln601His)
NM_002230.4(JUP):c.1807G>A (p.Val603Met) rs200327969
NM_002230.4(JUP):c.1816G>A (p.Gly606Arg)
NM_002230.4(JUP):c.1816G>C (p.Gly606Arg) rs1371912642
NM_002230.4(JUP):c.1825T>C (p.Cys609Arg)
NM_002230.4(JUP):c.1835C>G (p.Ala612Gly)
NM_002230.4(JUP):c.1842C>G (p.Asp614Glu) rs2143427860
NM_002230.4(JUP):c.1843A>G (p.Lys615Glu)
NM_002230.4(JUP):c.1843_1845del (p.Lys615del)
NM_002230.4(JUP):c.1849G>A (p.Ala617Thr) rs397517299
NM_002230.4(JUP):c.1858G>A (p.Ala620Thr)
NM_002230.4(JUP):c.185C>A (p.Thr62Asn) rs1555606943
NM_002230.4(JUP):c.1861A>G (p.Ile621Val)
NM_002230.4(JUP):c.1870G>C (p.Glu624Gln) rs2143426682
NM_002230.4(JUP):c.1871A>G (p.Glu624Gly) rs1914071758
NM_002230.4(JUP):c.1876G>C (p.Ala626Pro) rs782547688
NM_002230.4(JUP):c.188A>G (p.Gln63Arg)
NM_002230.4(JUP):c.1892T>A (p.Met631Lys)
NM_002230.4(JUP):c.1895A>G (p.Glu632Gly)
NM_002230.4(JUP):c.1910G>T (p.Arg637Leu)
NM_002230.4(JUP):c.1913A>C (p.Asn638Thr) rs561484928
NM_002230.4(JUP):c.1914C>G (p.Asn638Lys)
NM_002230.4(JUP):c.1922C>G (p.Thr641Ser)
NM_002230.4(JUP):c.1927A>G (p.Thr643Ala) rs2143420466
NM_002230.4(JUP):c.1927A>T (p.Thr643Ser) rs2143420466
NM_002230.4(JUP):c.1934C>T (p.Ala645Val)
NM_002230.4(JUP):c.193G>A (p.Val65Met) rs727503100
NM_002230.4(JUP):c.193G>T (p.Val65Leu) rs727503100
NM_002230.4(JUP):c.1948T>C (p.Phe650Leu) rs1208908708
NM_002230.4(JUP):c.1951C>G (p.Arg651Gly)
NM_002230.4(JUP):c.1951C>T (p.Arg651Cys)
NM_002230.4(JUP):c.1954A>G (p.Ile652Val) rs2143419427
NM_002230.4(JUP):c.1960G>A (p.Glu654Lys)
NM_002230.4(JUP):c.1967A>G (p.Lys656Arg)
NM_002230.4(JUP):c.196C>T (p.Pro66Ser)
NM_002230.4(JUP):c.1972C>T (p.Pro658Ser)
NM_002230.4(JUP):c.1976A>G (p.Asp659Gly) rs782124059
NM_002230.4(JUP):c.1979A>G (p.Tyr660Cys) rs1555598672
NM_002230.4(JUP):c.197C>T (p.Pro66Leu)
NM_002230.4(JUP):c.1981C>T (p.Arg661Trp)
NM_002230.4(JUP):c.1987C>T (p.Arg663Cys)
NM_002230.4(JUP):c.1988G>A (p.Arg663His)
NM_002230.4(JUP):c.1990G>C (p.Val664Leu) rs782695128
NM_002230.4(JUP):c.1994C>T (p.Ser665Phe) rs1555598615
NM_002230.4(JUP):c.1996G>T (p.Val666Leu) rs372369061
NM_002230.4(JUP):c.1_6del (p.Met1_Glu2del) rs1916704473
NM_002230.4(JUP):c.2002C>T (p.Leu668Phe)
NM_002230.4(JUP):c.2015T>A (p.Leu672His)
NM_002230.4(JUP):c.2030C>A (p.Pro677Gln)
NM_002230.4(JUP):c.2032G>A (p.Ala678Thr)
NM_002230.4(JUP):c.2035G>T (p.Ala679Ser)
NM_002230.4(JUP):c.203G>A (p.Ser68Asn)
NM_002230.4(JUP):c.2045C>T (p.Ala682Val)
NM_002230.4(JUP):c.2046T>C (p.Ala682=) rs782632671
NM_002230.4(JUP):c.2055C>T (p.Ser685=) rs1913708075
NM_002230.4(JUP):c.2073G>T (p.Glu691Asp) rs1162219431
NM_002230.4(JUP):c.2074C>G (p.Pro692Ala)
NM_002230.4(JUP):c.2078A>C (p.Tyr693Ser) rs782475413
NM_002230.4(JUP):c.209-3del rs560947371
NM_002230.4(JUP):c.209G>A (p.Gly70Asp)
NM_002230.4(JUP):c.2107C>T (p.Pro703Ser)
NM_002230.4(JUP):c.2108C>G (p.Pro703Arg) rs1008749253
NM_002230.4(JUP):c.2110A>G (p.Met704Val)
NM_002230.4(JUP):c.2112G>A (p.Met704Ile) rs1555597505
NM_002230.4(JUP):c.2114A>T (p.Tyr705Phe)
NM_002230.4(JUP):c.2115C>T (p.Tyr705=)
NM_002230.4(JUP):c.2118dup (p.Ser707fs) rs1913623011
NM_002230.4(JUP):c.2129C>A (p.Pro710His)
NM_002230.4(JUP):c.2137C>A (p.Pro713Thr) rs1555597496
NM_002230.4(JUP):c.2138C>T (p.Pro713Leu)
NM_002230.4(JUP):c.2141T>C (p.Leu714Pro) rs2143373822
NM_002230.4(JUP):c.2146A>G (p.Met716Val)
NM_002230.4(JUP):c.2152A>G (p.Met718Val)
NM_002230.4(JUP):c.2155G>C (p.Asp719His)
NM_002230.4(JUP):c.2156A>G (p.Asp719Gly) rs1283154446
NM_002230.4(JUP):c.2158A>G (p.Met720Val)
NM_002230.4(JUP):c.2162A>G (p.Asp721Gly)
NM_002230.4(JUP):c.2165G>T (p.Gly722Val)
NM_002230.4(JUP):c.2185T>A (p.Tyr729Asn) rs1555597428
NM_002230.4(JUP):c.2186A>T (p.Tyr729Phe)
NM_002230.4(JUP):c.2188A>G (p.Ser730Gly) rs1009184280
NM_002230.4(JUP):c.2197C>T (p.Leu733Phe)
NM_002230.4(JUP):c.21G>A (p.Met7Ile) rs782076076
NM_002230.4(JUP):c.2203C>T (p.Pro735Ser)
NM_002230.4(JUP):c.2204C>G (p.Pro735Arg) rs782574785
NM_002230.4(JUP):c.2204C>T (p.Pro735Leu) rs782574785
NM_002230.4(JUP):c.2215A>G (p.Thr739Ala)
NM_002230.4(JUP):c.2219C>T (p.Ala740Val)
NM_002230.4(JUP):c.2227A>G (p.Met743Val) rs1913591137
NM_002230.4(JUP):c.226A>G (p.Met76Val) rs782730235
NM_002230.4(JUP):c.228G>A (p.Met76Ile) rs202091411
NM_002230.4(JUP):c.230C>T (p.Ser77Phe)
NM_002230.4(JUP):c.232A>G (p.Thr78Ala) rs1916308035
NM_002230.4(JUP):c.238G>A (p.Ala80Thr)
NM_002230.4(JUP):c.248A>G (p.Lys83Arg)
NM_002230.4(JUP):c.250C>G (p.Arg84Gly) rs782306414
NM_002230.4(JUP):c.253G>C (p.Val85Leu) rs782425952
NM_002230.4(JUP):c.25C>G (p.Gln9Glu)
NM_002230.4(JUP):c.262_263delinsAA (p.Ala88Asn) rs1916297521
NM_002230.4(JUP):c.266T>A (p.Met89Lys)
NM_002230.4(JUP):c.269G>T (p.Cys90Phe)
NM_002230.4(JUP):c.272C>T (p.Pro91Leu) rs1567819889
NM_002230.4(JUP):c.275G>A (p.Gly92Asp) rs782737074
NM_002230.4(JUP):c.275G>C (p.Gly92Ala)
NM_002230.4(JUP):c.278T>G (p.Val93Gly) rs1916292032
NM_002230.4(JUP):c.289G>C (p.Asp97His) rs2143696352
NM_002230.4(JUP):c.292A>G (p.Ser98Gly)
NM_002230.4(JUP):c.293G>A (p.Ser98Asn) rs1555605891
NM_002230.4(JUP):c.298C>T (p.Leu100Phe) rs1555605883
NM_002230.4(JUP):c.308C>G (p.Ala103Gly) rs2143695852
NM_002230.4(JUP):c.314A>G (p.Gln105Arg)
NM_002230.4(JUP):c.315G>T (p.Gln105His)
NM_002230.4(JUP):c.328G>A (p.Ala110Thr) rs1916275770
NM_002230.4(JUP):c.344G>T (p.Arg115Leu)
NM_002230.4(JUP):c.35A>G (p.Lys12Arg)
NM_002230.4(JUP):c.365T>C (p.Leu122Pro) rs2143694308
NM_002230.4(JUP):c.373T>C (p.Ser125Pro)
NM_002230.4(JUP):c.379A>G (p.Ile127Val) rs1205967739
NM_002230.4(JUP):c.386A>C (p.His129Pro)
NM_002230.4(JUP):c.389TCA[1] (p.Ile131del) rs781818082
NM_002230.4(JUP):c.401A>G (p.Gln134Arg) rs1057518313
NM_002230.4(JUP):c.401A>T (p.Gln134Leu)
NM_002230.4(JUP):c.403G>C (p.Asp135His) rs1555605721
NM_002230.4(JUP):c.406G>C (p.Asp136His) rs782392706
NM_002230.4(JUP):c.406G>T (p.Asp136Tyr) rs782392706
NM_002230.4(JUP):c.450_451delinsCA (p.Leu151Ile) rs2143691917
NM_002230.4(JUP):c.455A>G (p.Asn152Ser) rs1555605656
NM_002230.4(JUP):c.457G>A (p.Asp153Asn)
NM_002230.4(JUP):c.468+4T>C rs782412433
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753
NM_002230.4(JUP):c.468G>T (p.Pro156=)
NM_002230.4(JUP):c.476T>C (p.Val159Ala)
NM_002230.4(JUP):c.484G>A (p.Ala162Thr)
NM_002230.4(JUP):c.484G>T (p.Ala162Ser) rs1555605437
NM_002230.4(JUP):c.487G>A (p.Ala163Thr) rs782239920
NM_002230.4(JUP):c.49C>A (p.Gln17Lys)
NM_002230.4(JUP):c.500A>T (p.Asn167Ile) rs2143684902
NM_002230.4(JUP):c.501C>G (p.Asn167Lys)
NM_002230.4(JUP):c.504G>C (p.Gln168His)
NM_002230.4(JUP):c.505C>G (p.Leu169Val) rs1916178629
NM_002230.4(JUP):c.511AAG[1] (p.Lys172del) rs2143684447
NM_002230.4(JUP):c.512A>G (p.Lys171Arg)
NM_002230.4(JUP):c.515A>G (p.Lys172Arg) rs2143684482
NM_002230.4(JUP):c.523T>C (p.Ser175Pro)
NM_002230.4(JUP):c.527G>T (p.Arg176Leu)
NM_002230.4(JUP):c.536T>A (p.Leu179Gln)
NM_002230.4(JUP):c.538A>C (p.Met180Leu)
NM_002230.4(JUP):c.542G>T (p.Gly181Val) rs1555605325
NM_002230.4(JUP):c.542_556dup (p.Gly181_Leu185dup) rs1555605296
NM_002230.4(JUP):c.54G>C (p.Gln18His)
NM_002230.4(JUP):c.559G>A (p.Ala187Thr)
NM_002230.4(JUP):c.55A>G (p.Thr19Ala)
NM_002230.4(JUP):c.563C>G (p.Ala188Gly)
NM_002230.4(JUP):c.565G>C (p.Val189Leu)
NM_002230.4(JUP):c.568G>C (p.Val190Leu) rs370143312
NM_002230.4(JUP):c.568G>T (p.Val190Leu) rs370143312
NM_002230.4(JUP):c.579G>A (p.Met193Ile) rs1916162051
NM_002230.4(JUP):c.593A>C (p.Asp198Ala) rs1916158675
NM_002230.4(JUP):c.599A>C (p.Asp200Ala)
NM_002230.4(JUP):c.599A>G (p.Asp200Gly)
NM_002230.4(JUP):c.602C>T (p.Thr201Ile) rs1916155693
NM_002230.4(JUP):c.605C>T (p.Ala202Val) rs782337928
NM_002230.4(JUP):c.622A>G (p.Ile208Val)
NM_002230.4(JUP):c.626T>A (p.Leu209Gln)
NM_002230.4(JUP):c.62C>A (p.Thr21Asn)
NM_002230.4(JUP):c.631A>C (p.Asn211His)
NM_002230.4(JUP):c.631_633del (p.Asn211del) rs1916151526
NM_002230.4(JUP):c.634C>G (p.Leu212Val)
NM_002230.4(JUP):c.643C>T (p.His215Tyr)
NM_002230.4(JUP):c.650A>G (p.Glu217Gly) rs2143680736
NM_002230.4(JUP):c.652G>A (p.Gly218Arg) rs1597823588
NM_002230.4(JUP):c.652G>C (p.Gly218Arg) rs1597823588
NM_002230.4(JUP):c.664A>G (p.Ile222Val)
NM_002230.4(JUP):c.67G>A (p.Asp23Asn)
NM_002230.4(JUP):c.692T>C (p.Leu231Pro) rs782109462
NM_002230.4(JUP):c.700A>G (p.Met234Val)
NM_002230.4(JUP):c.722C>T (p.Ser241Leu)
NM_002230.4(JUP):c.724G>T (p.Val242Phe)
NM_002230.4(JUP):c.731T>C (p.Phe244Ser) rs1915926866
NM_002230.4(JUP):c.743C>A (p.Thr248Asn)
NM_002230.4(JUP):c.745A>C (p.Thr249Pro) rs2143652715
NM_002230.4(JUP):c.751C>T (p.His251Tyr)
NM_002230.4(JUP):c.754A>G (p.Asn252Asp) rs1915923358
NM_002230.4(JUP):c.758T>C (p.Leu253Pro)
NM_002230.4(JUP):c.766T>C (p.Tyr256His) rs1915921460
NM_002230.4(JUP):c.76A>C (p.Ile26Leu)
NM_002230.4(JUP):c.772G>C (p.Glu258Gln) rs1915920461
NM_002230.4(JUP):c.78C>G (p.Ile26Met)
NM_002230.4(JUP):c.790G>A (p.Val264Met)
NM_002230.4(JUP):c.796C>G (p.Leu266Val) rs2143651347
NM_002230.4(JUP):c.805G>A (p.Gly269Arg) rs1915915013
NM_002230.4(JUP):c.805G>C (p.Gly269Arg)
NM_002230.4(JUP):c.817A>T (p.Met273Leu) rs2143650846
NM_002230.4(JUP):c.820G>A (p.Val274Met) rs1555604537
NM_002230.4(JUP):c.823C>T (p.Pro275Ser)
NM_002230.4(JUP):c.824C>A (p.Pro275His)
NM_002230.4(JUP):c.839A>G (p.Asn280Ser)
NM_002230.4(JUP):c.83C>T (p.Ser28Leu) rs782713414
NM_002230.4(JUP):c.856G>A (p.Ala286Thr) rs1915907385
NM_002230.4(JUP):c.859A>G (p.Ile287Val) rs1567815934
NM_002230.4(JUP):c.865_866delinsCT (p.Thr289Leu) rs1915905294
NM_002230.4(JUP):c.871T>C (p.Cys291Arg) rs2143649566
NM_002230.4(JUP):c.872G>A (p.Cys291Tyr) rs1915903369
NM_002230.4(JUP):c.874C>G (p.Leu292Val) rs1915903019
NM_002230.4(JUP):c.875T>C (p.Leu292Pro)
NM_002230.4(JUP):c.886G>T (p.Ala296Ser)
NM_002230.4(JUP):c.899A>G (p.Gln300Arg)
NM_002230.4(JUP):c.909+5G>T
NM_002230.4(JUP):c.909+6C>A
NM_002230.4(JUP):c.926A>T (p.Asn309Ile) rs140606359
NM_002230.4(JUP):c.931G>A (p.Gly311Arg) rs1915488679
NM_002230.4(JUP):c.941C>G (p.Ala314Gly) rs201214805
NM_002230.4(JUP):c.947T>G (p.Val316Gly) rs1915485566
NM_002230.4(JUP):c.952A>G (p.Ile318Val)
NM_002230.4(JUP):c.954_956del (p.Ile318del)
NM_002230.4(JUP):c.958C>A (p.Arg320Ser)
NM_002230.4(JUP):c.959G>A (p.Arg320His) rs781965392
NM_002230.4(JUP):c.959G>T (p.Arg320Leu)
NM_002230.4(JUP):c.970T>A (p.Tyr324Asn)
NM_002230.4(JUP):c.970T>C (p.Tyr324His)
NM_002230.4(JUP):c.98G>T (p.Cys33Phe)
NM_002230.4(JUP):c.995G>A (p.Ser332Asn) rs1915476254

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