ClinVar Miner

List of variants in gene JUP reported by Ambry Genetics

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 414
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.213T>C (p.Asp71=) rs7405731 0.77675
NM_002230.4(JUP):c.2089A>T (p.Met697Leu) rs1126821 0.66611
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_002230.4(JUP):c.405C>T (p.Asp135=) rs17850807 0.03356
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_002230.4(JUP):c.1942G>A (p.Val648Ile) rs143043662 0.00760
NM_002230.4(JUP):c.1563A>G (p.Ala521=) rs149926974 0.00753
NM_002230.4(JUP):c.*2C>T rs112879398 0.00630
NM_002230.4(JUP):c.1224C>T (p.Leu408=) rs2230408 0.00620
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 0.00259
NM_002230.4(JUP):c.567C>T (p.Val189=) rs35297577 0.00090
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464 0.00049
NM_002230.4(JUP):c.510G>A (p.Ser170=) rs140539043 0.00041
NM_002230.4(JUP):c.1807G>T (p.Val603Leu) rs200327969 0.00038
NM_002230.4(JUP):c.1366G>A (p.Val456Ile) rs78437817 0.00036
NM_002230.4(JUP):c.633C>T (p.Asn211=) rs372145644 0.00036
NM_002230.4(JUP):c.459C>T (p.Asp153=) rs376289528 0.00029
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262 0.00026
NM_002230.4(JUP):c.1910G>A (p.Arg637His) rs142095597 0.00025
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_002230.4(JUP):c.1507G>A (p.Gly503Ser) rs376051686 0.00021
NM_002230.4(JUP):c.258G>A (p.Arg86=) rs147159111 0.00020
NM_002230.4(JUP):c.1941C>T (p.Ala647=) rs368865601 0.00019
NM_002230.4(JUP):c.2069A>G (p.Asn690Ser) rs147628503 0.00019
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_002230.4(JUP):c.1582G>A (p.Val528Ile) rs368271628 0.00018
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662 0.00018
NM_002230.4(JUP):c.426C>T (p.Arg142=) rs142599474 0.00018
NM_002230.4(JUP):c.1296C>T (p.Asn432=) rs544224850 0.00017
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002230.4(JUP):c.527G>A (p.Arg176Gln) rs144171604 0.00016
NM_002230.4(JUP):c.708-4C>G rs201313464 0.00014
NM_002230.4(JUP):c.801C>T (p.Ala267=) rs138397457 0.00014
NM_002230.4(JUP):c.84G>A (p.Ser28=) rs144137028 0.00014
NM_002230.4(JUP):c.1365C>T (p.Ala455=) rs77375949 0.00013
NM_002230.4(JUP):c.545C>T (p.Ser182Leu) rs145592971 0.00013
NM_002230.4(JUP):c.1959C>T (p.Ser653=) rs375451560 0.00012
NM_002230.4(JUP):c.1989C>T (p.Arg663=) rs145175985 0.00011
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_002230.4(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.1982G>A (p.Arg661Gln) rs555499592 0.00008
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.891C>T (p.Tyr297=) rs397517302 0.00008
NM_002230.4(JUP):c.2030C>T (p.Pro677Leu) rs782622653 0.00007
NM_002230.4(JUP):c.2230C>T (p.Leu744=) rs782069599 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.1520A>G (p.Asn507Ser) rs1555599849 0.00006
NM_002230.4(JUP):c.1713C>G (p.Ala571=) rs138446862 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_002230.4(JUP):c.1912A>C (p.Asn638His) rs782658008 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.561C>T (p.Ala187=) rs139552714 0.00006
NM_002230.4(JUP):c.568G>A (p.Val190Met) rs370143312 0.00006
NM_002230.4(JUP):c.762C>T (p.Leu254=) rs781805854 0.00006
NM_002230.4(JUP):c.778G>A (p.Ala260Thr) rs149623442 0.00006
NM_002230.4(JUP):c.972T>C (p.Tyr324=) rs781889333 0.00006
NM_002230.4(JUP):c.1039G>A (p.Ala347Thr) rs782301706 0.00005
NM_002230.4(JUP):c.1452C>T (p.Ala484=) rs374831874 0.00005
NM_002230.4(JUP):c.1455C>T (p.Ile485=) rs368692517 0.00005
NM_002230.4(JUP):c.1710C>T (p.Leu570=) rs375801194 0.00005
NM_002230.4(JUP):c.1857C>T (p.Asp619=) rs782623854 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.560C>T (p.Ala187Val) rs782370709 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.1371C>T (p.Cys457=) rs531692563 0.00004
NM_002230.4(JUP):c.1486C>A (p.Pro496Thr) rs1220042864 0.00004
NM_002230.4(JUP):c.161C>T (p.Thr54Met) rs782529328 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.1902G>T (p.Leu634=) rs145808264 0.00004
NM_002230.4(JUP):c.1914C>T (p.Asn638=) rs368772249 0.00004
NM_002230.4(JUP):c.1932C>T (p.Tyr644=) rs201704572 0.00004
NM_002230.4(JUP):c.1945C>T (p.Leu649=) rs149148171 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.329C>T (p.Ala110Val) rs782770278 0.00004
NM_002230.4(JUP):c.522G>A (p.Ala174=) rs782745301 0.00004
NM_002230.4(JUP):c.607C>T (p.Arg203Cys) rs147354282 0.00004
NM_002230.4(JUP):c.746C>T (p.Thr249Met) rs377612199 0.00004
NM_002230.4(JUP):c.945C>T (p.Leu315=) rs146804895 0.00004
NM_002230.4(JUP):c.1218C>T (p.Asn406=) rs782565128 0.00003
NM_002230.4(JUP):c.1222C>T (p.Leu408Phe) rs369755953 0.00003
NM_002230.4(JUP):c.1290A>G (p.Thr430=) rs897549158 0.00003
NM_002230.4(JUP):c.1430G>A (p.Arg477His) rs781788038 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.1995C>T (p.Ser665=) rs782094877 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.357G>A (p.Pro119=) rs782579395 0.00003
NM_002230.4(JUP):c.435C>T (p.Pro145=) rs781786854 0.00003
NM_002230.4(JUP):c.467C>T (p.Pro156Leu) rs782052422 0.00003
NM_002230.4(JUP):c.474G>A (p.Val158=) rs572405296 0.00003
NM_002230.4(JUP):c.509C>T (p.Ser170Leu) rs782284038 0.00003
NM_002230.4(JUP):c.66C>T (p.Tyr22=) rs782575179 0.00003
NM_002230.4(JUP):c.723G>A (p.Ser241=) rs564635690 0.00003
NM_002230.4(JUP):c.789C>T (p.Ala263=) rs781822316 0.00003
NM_002230.4(JUP):c.-4C>T rs782493861 0.00002
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.1407C>T (p.Ala469=) rs782450410 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.159C>T (p.Tyr53=) rs370760069 0.00002
NM_002230.4(JUP):c.1618C>T (p.Arg540Cys) rs782455234 0.00002
NM_002230.4(JUP):c.1753A>G (p.Thr585Ala) rs782653485 0.00002
NM_002230.4(JUP):c.1784C>T (p.Ser595Leu) rs782130740 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.2208G>A (p.Pro736=) rs371508357 0.00002
NM_002230.4(JUP):c.274G>T (p.Gly92Cys) rs781875765 0.00002
NM_002230.4(JUP):c.351C>T (p.Ala117=) rs397517300 0.00002
NM_002230.4(JUP):c.436G>A (p.Glu146Lys) rs146581757 0.00002
NM_002230.4(JUP):c.447A>G (p.Lys149=) rs199853316 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.654G>A (p.Gly218=) rs112105828 0.00002
NM_002230.4(JUP):c.660C>T (p.Leu220=) rs782771003 0.00002
NM_002230.4(JUP):c.682A>G (p.Ile228Val) rs374566089 0.00002
NM_002230.4(JUP):c.694G>A (p.Val232Ile) rs137989964 0.00002
NM_002230.4(JUP):c.765G>A (p.Leu255=) rs782535119 0.00002
NM_002230.4(JUP):c.804C>T (p.Asp268=) rs782667629 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.99C>T (p.Cys33=) rs139172952 0.00002
NM_002230.4(JUP):c.100G>A (p.Val34Met) rs794729029 0.00001
NM_002230.4(JUP):c.1080C>T (p.His360=) rs1406214813 0.00001
NM_002230.4(JUP):c.108C>T (p.Ser36=) rs371142035 0.00001
NM_002230.4(JUP):c.1096C>A (p.Pro366Thr) rs782690097 0.00001
NM_002230.4(JUP):c.1128G>A (p.Leu376=) rs781926392 0.00001
NM_002230.4(JUP):c.1129C>A (p.Arg377Ser) rs368564000 0.00001
NM_002230.4(JUP):c.1165C>T (p.Leu389=) rs1057523570 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.1308G>T (p.Glu436Asp) rs782594495 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.1347C>T (p.Asp449=) rs763261901 0.00001
NM_002230.4(JUP):c.1378C>T (p.Arg460Cys) rs782575391 0.00001
NM_002230.4(JUP):c.1380C>T (p.Arg460=) rs782212737 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.1506C>T (p.Ile502=) rs372963143 0.00001
NM_002230.4(JUP):c.151C>T (p.Arg51Cys) rs782254006 0.00001
NM_002230.4(JUP):c.1555C>G (p.Gln519Glu) rs139454583 0.00001
NM_002230.4(JUP):c.1566G>A (p.Ala522=) rs547437428 0.00001
NM_002230.4(JUP):c.1576C>T (p.Arg526Cys) rs782309611 0.00001
NM_002230.4(JUP):c.1623C>T (p.His541=) rs782477974 0.00001
NM_002230.4(JUP):c.1624G>A (p.Val542Ile) rs571375136 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.1762C>T (p.Leu588=) rs781900856 0.00001
NM_002230.4(JUP):c.1770G>A (p.Val590=) rs782444566 0.00001
NM_002230.4(JUP):c.1785G>A (p.Ser595=) rs782816522 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.1815C>T (p.Ala605=) rs543862977 0.00001
NM_002230.4(JUP):c.1854C>T (p.Ala618=) rs782176670 0.00001
NM_002230.4(JUP):c.1868C>G (p.Ala623Gly) rs782760341 0.00001
NM_002230.4(JUP):c.1876G>A (p.Ala626Thr) rs782547688 0.00001
NM_002230.4(JUP):c.1908C>T (p.Ser636=) rs782122765 0.00001
NM_002230.4(JUP):c.192G>A (p.Gly64=) rs141237794 0.00001
NM_002230.4(JUP):c.1990G>A (p.Val664Met) rs782695128 0.00001
NM_002230.4(JUP):c.2060T>C (p.Ile687Thr) rs1181838480 0.00001
NM_002230.4(JUP):c.2084A>G (p.Asp695Gly) rs781859850 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.2193C>T (p.Asp731=) rs199683273 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.343C>T (p.Arg115Ter) rs782203227 0.00001
NM_002230.4(JUP):c.411C>T (p.Ala137=) rs782089101 0.00001
NM_002230.4(JUP):c.414G>A (p.Glu138=) rs370003514 0.00001
NM_002230.4(JUP):c.424C>T (p.Arg142Cys) rs199591001 0.00001
NM_002230.4(JUP):c.525G>A (p.Ser175=) rs782794110 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.591C>T (p.Ser197=) rs781813778 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.680G>A (p.Gly227Asp) rs782010606 0.00001
NM_002230.4(JUP):c.698G>A (p.Arg233His) rs1304500107 0.00001
NM_002230.4(JUP):c.705C>T (p.Leu235=) rs887639693 0.00001
NM_002230.4(JUP):c.707+5C>A rs375580484 0.00001
NM_002230.4(JUP):c.793C>T (p.Arg265Cys) rs782761197 0.00001
NM_002230.4(JUP):c.794G>A (p.Arg265His) rs782440692 0.00001
NM_002230.4(JUP):c.802G>A (p.Asp268Asn) rs794729039 0.00001
NM_002230.4(JUP):c.807G>T (p.Gly269=) rs781992518 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.87C>T (p.Gly29=) rs199530395 0.00001
NM_002230.4(JUP):c.884T>C (p.Leu295Pro) rs1567815863 0.00001
NM_002230.4(JUP):c.928G>A (p.Gly310Ser) rs1597808505 0.00001
NM_002230.4(JUP):c.936C>G (p.Pro312=) rs375094290 0.00001
NM_002230.4(JUP):c.942C>T (p.Ala314=) rs782573436 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.969T>C (p.Ser323=) rs868945297 0.00001
NM_002230.4(JUP):c.990C>T (p.Thr330=) rs1057521340 0.00001
NM_002230.4(JUP):c.-2C>T
NM_002230.4(JUP):c.-3_6delinsCCA (p.Met1_Glu2del)
NM_002230.4(JUP):c.1012C>T (p.Leu338=)
NM_002230.4(JUP):c.1046T>A (p.Val349Glu)
NM_002230.4(JUP):c.1066G>A (p.Ala356Thr)
NM_002230.4(JUP):c.1080C>A (p.His360Gln)
NM_002230.4(JUP):c.1104G>C (p.Leu368=) rs1555603199
NM_002230.4(JUP):c.1113C>A (p.Asn371Lys) rs782009178
NM_002230.4(JUP):c.1129C>T (p.Arg377Cys) rs368564000
NM_002230.4(JUP):c.1134C>G (p.Asn378Lys)
NM_002230.4(JUP):c.113GCA[1] (p.Ser39del) rs113994176
NM_002230.4(JUP):c.1183A>G (p.Ile395Val)
NM_002230.4(JUP):c.1208A>G (p.Asp403Gly)
NM_002230.4(JUP):c.1212C>T (p.Asp404=) rs1482026041
NM_002230.4(JUP):c.1233C>A (p.Ala411=)
NM_002230.4(JUP):c.1246T>A (p.Ser416Thr)
NM_002230.4(JUP):c.1247C>T (p.Ser416Phe)
NM_002230.4(JUP):c.1260C>G (p.Cys420Trp)
NM_002230.4(JUP):c.1269C>G (p.Ser423Arg)
NM_002230.4(JUP):c.1271A>C (p.Lys424Thr)
NM_002230.4(JUP):c.1281G>A (p.Thr427=) rs373544304
NM_002230.4(JUP):c.1292A>G (p.Gln431Arg)
NM_002230.4(JUP):c.1317C>T (p.Ile439=)
NM_002230.4(JUP):c.1328T>C (p.Leu443Pro)
NM_002230.4(JUP):c.1346A>G (p.Asp449Gly)
NM_002230.4(JUP):c.1356G>A (p.Thr452=)
NM_002230.4(JUP):c.1386C>T (p.Leu462=)
NM_002230.4(JUP):c.1429C>T (p.Arg477Cys)
NM_002230.4(JUP):c.1470C>G (p.Asn490Lys)
NM_002230.4(JUP):c.147C>T (p.Cys49=) rs200001999
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.1497+4C>G
NM_002230.4(JUP):c.1498G>A (p.Ala500Thr)
NM_002230.4(JUP):c.1509C>T (p.Gly503=) rs782445315
NM_002230.4(JUP):c.1525G>T (p.Ala509Ser) rs1555599847
NM_002230.4(JUP):c.1528C>G (p.Leu510Val)
NM_002230.4(JUP):c.152G>T (p.Arg51Leu)
NM_002230.4(JUP):c.1534C>G (p.Pro512Ala)
NM_002230.4(JUP):c.1547C>A (p.Ala516Asp) rs1255846046
NM_002230.4(JUP):c.1577G>A (p.Arg526His)
NM_002230.4(JUP):c.1605C>T (p.His535=)
NM_002230.4(JUP):c.1622A>C (p.His541Pro)
NM_002230.4(JUP):c.1622A>T (p.His541Leu) rs782449369
NM_002230.4(JUP):c.1678G>A (p.Val560Met)
NM_002230.4(JUP):c.1685G>A (p.Gly562Asp)
NM_002230.4(JUP):c.1697C>G (p.Ala566Gly)
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.1722C>G (p.Pro574=) rs1016855983
NM_002230.4(JUP):c.1725G>T (p.Met575Ile)
NM_002230.4(JUP):c.1745G>A (p.Arg582Gln) rs781828085
NM_002230.4(JUP):c.1773+3G>A rs1460748612
NM_002230.4(JUP):c.1774C>G (p.Leu592Val)
NM_002230.4(JUP):c.178_186del (p.Thr60_Thr62del)
NM_002230.4(JUP):c.1797C>T (p.Asn599=)
NM_002230.4(JUP):c.1814C>T (p.Ala605Val) rs954113545
NM_002230.4(JUP):c.1815C>G (p.Ala605=)
NM_002230.4(JUP):c.1816G>A (p.Gly606Arg)
NM_002230.4(JUP):c.1816G>C (p.Gly606Arg) rs1371912642
NM_002230.4(JUP):c.1817G>A (p.Gly606Glu)
NM_002230.4(JUP):c.1824G>A (p.Leu608=) rs376043057
NM_002230.4(JUP):c.1835C>G (p.Ala612Gly)
NM_002230.4(JUP):c.1858G>A (p.Ala620Thr)
NM_002230.4(JUP):c.185C>G (p.Thr62Ser)
NM_002230.4(JUP):c.1863T>C (p.Ile621=)
NM_002230.4(JUP):c.1873G>A (p.Gly625Arg)
NM_002230.4(JUP):c.1879T>C (p.Ser627Pro)
NM_002230.4(JUP):c.1881G>A (p.Ser627=)
NM_002230.4(JUP):c.1907C>T (p.Ser636Phe)
NM_002230.4(JUP):c.1910G>T (p.Arg637Leu)
NM_002230.4(JUP):c.1915G>A (p.Glu639Lys)
NM_002230.4(JUP):c.1924+1G>A rs1597781765
NM_002230.4(JUP):c.1927A>G (p.Thr643Ala) rs2143420466
NM_002230.4(JUP):c.1955T>A (p.Ile652Asn)
NM_002230.4(JUP):c.1956C>T (p.Ile652=)
NM_002230.4(JUP):c.197C>T (p.Pro66Leu)
NM_002230.4(JUP):c.1981C>T (p.Arg661Trp)
NM_002230.4(JUP):c.1996G>T (p.Val666Leu) rs372369061
NM_002230.4(JUP):c.203G>A (p.Ser68Asn)
NM_002230.4(JUP):c.2046T>A (p.Ala682=) rs782632671
NM_002230.4(JUP):c.2056A>G (p.Met686Val)
NM_002230.4(JUP):c.2087-4C>A
NM_002230.4(JUP):c.2095G>T (p.Ala699Ser)
NM_002230.4(JUP):c.211_213delinsTAC (p.Asp71Tyr)
NM_002230.4(JUP):c.2125G>A (p.Val709Met)
NM_002230.4(JUP):c.2139G>A (p.Pro713=) rs782165431
NM_002230.4(JUP):c.2146A>G (p.Met716Val)
NM_002230.4(JUP):c.2151C>T (p.His717=)
NM_002230.4(JUP):c.2158A>G (p.Met720Val)
NM_002230.4(JUP):c.2162A>G (p.Asp721Gly)
NM_002230.4(JUP):c.2188A>G (p.Ser730Gly) rs1009184280
NM_002230.4(JUP):c.2190C>T (p.Ser730=)
NM_002230.4(JUP):c.2204C>T (p.Pro735Leu) rs782574785
NM_002230.4(JUP):c.2208G>T (p.Pro736=) rs371508357
NM_002230.4(JUP):c.2212C>T (p.Pro738Ser)
NM_002230.4(JUP):c.2214C>T (p.Pro738=)
NM_002230.4(JUP):c.2215A>G (p.Thr739Ala)
NM_002230.4(JUP):c.2220A>G (p.Ala740=) rs142102308
NM_002230.4(JUP):c.2222A>G (p.Asp741Gly)
NM_002230.4(JUP):c.2227A>G (p.Met743Val) rs1913591137
NM_002230.4(JUP):c.228G>A (p.Met76Ile) rs202091411
NM_002230.4(JUP):c.238G>A (p.Ala80Thr)
NM_002230.4(JUP):c.250C>G (p.Arg84Gly) rs782306414
NM_002230.4(JUP):c.275G>A (p.Gly92Asp) rs782737074
NM_002230.4(JUP):c.285C>A (p.Gly95=)
NM_002230.4(JUP):c.328G>T (p.Ala110Ser)
NM_002230.4(JUP):c.330C>T (p.Ala110=)
NM_002230.4(JUP):c.370A>T (p.Lys124Ter)
NM_002230.4(JUP):c.375G>A (p.Ser125=) rs111344340
NM_002230.4(JUP):c.375G>C (p.Ser125=) rs111344340
NM_002230.4(JUP):c.382G>A (p.Val128Met)
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.408T>C (p.Asp136=)
NM_002230.4(JUP):c.436G>T (p.Glu146Ter) rs146581757
NM_002230.4(JUP):c.456C>T (p.Asn152=) rs781907298
NM_002230.4(JUP):c.457G>A (p.Asp153Asn)
NM_002230.4(JUP):c.462G>A (p.Glu154=)
NM_002230.4(JUP):c.468+4T>C rs782412433
NM_002230.4(JUP):c.468G>A (p.Pro156=) rs886037753
NM_002230.4(JUP):c.476T>C (p.Val159Ala)
NM_002230.4(JUP):c.484G>T (p.Ala162Ser) rs1555605437
NM_002230.4(JUP):c.527G>T (p.Arg176Leu)
NM_002230.4(JUP):c.539T>G (p.Met180Arg)
NM_002230.4(JUP):c.542G>T (p.Gly181Val) rs1555605325
NM_002230.4(JUP):c.544T>G (p.Ser182Ala)
NM_002230.4(JUP):c.549C>G (p.Pro183=) rs112787493
NM_002230.4(JUP):c.54G>C (p.Gln18His)
NM_002230.4(JUP):c.568G>C (p.Val190Leu) rs370143312
NM_002230.4(JUP):c.579G>A (p.Met193Ile) rs1916162051
NM_002230.4(JUP):c.595del (p.Leu199fs)
NM_002230.4(JUP):c.622A>G (p.Ile208Val)
NM_002230.4(JUP):c.631_633del (p.Asn211del) rs1916151526
NM_002230.4(JUP):c.634C>G (p.Leu212Val)
NM_002230.4(JUP):c.639C>T (p.Ser213=) rs782266138
NM_002230.4(JUP):c.643C>T (p.His215Tyr)
NM_002230.4(JUP):c.652G>C (p.Gly218Arg) rs1597823588
NM_002230.4(JUP):c.67G>A (p.Asp23Asn)
NM_002230.4(JUP):c.691C>G (p.Leu231Val)
NM_002230.4(JUP):c.693G>T (p.Leu231=)
NM_002230.4(JUP):c.69C>G (p.Asp23Glu)
NM_002230.4(JUP):c.707+2T>C
NM_002230.4(JUP):c.707+3delinsGAGCCCATCAGTGAG
NM_002230.4(JUP):c.708-3dup rs782230165
NM_002230.4(JUP):c.716T>C (p.Val239Ala)
NM_002230.4(JUP):c.717G>C (p.Val239=)
NM_002230.4(JUP):c.722C>T (p.Ser241Leu)
NM_002230.4(JUP):c.731T>C (p.Phe244Ser) rs1915926866
NM_002230.4(JUP):c.73G>A (p.Gly25Ser)
NM_002230.4(JUP):c.743C>A (p.Thr248Asn)
NM_002230.4(JUP):c.747G>A (p.Thr249=)
NM_002230.4(JUP):c.75T>G (p.Gly25=)
NM_002230.4(JUP):c.762C>G (p.Leu254=) rs781805854
NM_002230.4(JUP):c.773A>G (p.Glu258Gly) rs794729052
NM_002230.4(JUP):c.78C>G (p.Ile26Met)
NM_002230.4(JUP):c.798G>A (p.Leu266=)
NM_002230.4(JUP):c.800C>A (p.Ala267Asp)
NM_002230.4(JUP):c.813A>G (p.Gln271=) rs1597817544
NM_002230.4(JUP):c.820G>A (p.Val274Met) rs1555604537
NM_002230.4(JUP):c.825C>G (p.Pro275=)
NM_002230.4(JUP):c.831C>G (p.Leu277=)
NM_002230.4(JUP):c.862A>G (p.Thr288Ala)
NM_002230.4(JUP):c.87C>G (p.Gly29=)
NM_002230.4(JUP):c.880C>T (p.Leu294Phe)
NM_002230.4(JUP):c.909+1del
NM_002230.4(JUP):c.916A>G (p.Ile306Val)
NM_002230.4(JUP):c.916del (p.Ile306fs)
NM_002230.4(JUP):c.927T>A (p.Asn309Lys)
NM_002230.4(JUP):c.941C>G (p.Ala314Gly) rs201214805
NM_002230.4(JUP):c.957G>A (p.Met319Ile)
NM_002230.4(JUP):c.959G>A (p.Arg320His) rs781965392
NM_002230.4(JUP):c.95C>T (p.Thr32Ile)

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