ClinVar Miner

List of variants in gene JUP reported as likely benign for arrhythmogenic right ventricular dysplasia 12

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 386
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HGVS dbSNP gnomAD frequency
NM_002230.4(JUP):c.425G>A (p.Arg142His) rs41283425 0.03910
NM_002230.4(JUP):c.*709G>C rs56339743 0.03348
NM_002230.4(JUP):c.*286C>T rs73983656 0.03337
NM_002230.4(JUP):c.*853C>T rs55919561 0.01530
NM_002230.4(JUP):c.*623G>A rs55634776 0.01451
NM_002230.4(JUP):c.2047-14C>G rs116666639 0.00819
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.*1027G>C rs147905567 0.00640
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.1774-13C>T rs116772523 0.00553
NM_002230.4(JUP):c.*239G>A rs115919416 0.00526
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640 0.00507
NM_002230.4(JUP):c.2059A>G (p.Ile687Val) rs138366708 0.00074
NM_002230.4(JUP):c.1054+7A>T rs371988639 0.00049
NM_002230.4(JUP):c.510G>A (p.Ser170=) rs140539043 0.00041
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.1507G>A (p.Gly503Ser) rs376051686 0.00021
NM_002230.4(JUP):c.258G>A (p.Arg86=) rs147159111 0.00020
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.1296C>T (p.Asn432=) rs544224850 0.00017
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_002230.4(JUP):c.1924+8G>C rs730880115 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002230.4(JUP):c.2086+13C>T rs199935213 0.00015
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.1959C>T (p.Ser653=) rs375451560 0.00012
NM_002230.4(JUP):c.1159-20G>A rs782463183 0.00011
NM_002230.4(JUP):c.1989C>T (p.Arg663=) rs145175985 0.00011
NM_002230.4(JUP):c.1654-7C>T rs1395283149 0.00010
NM_002230.4(JUP):c.707+20G>A rs782523305 0.00010
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) rs752594411 0.00009
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) rs555499592 0.00008
NM_002230.4(JUP):c.891C>T (p.Tyr297=) rs397517302 0.00008
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_002230.4(JUP):c.2230C>T (p.Leu744=) rs782069599 0.00007
NM_002230.4(JUP):c.958C>T (p.Arg320Cys) rs200740462 0.00007
NM_002230.4(JUP):c.1055-14del rs140002183 0.00006
NM_002230.4(JUP):c.1713C>G (p.Ala571=) rs138446862 0.00006
NM_002230.4(JUP):c.561C>T (p.Ala187=) rs139552714 0.00006
NM_002230.4(JUP):c.762C>T (p.Leu254=) rs781805854 0.00006
NM_002230.4(JUP):c.972T>C (p.Tyr324=) rs781889333 0.00006
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.560C>T (p.Ala187Val) rs782370709 0.00005
NM_002230.4(JUP):c.748C>T (p.Leu250=) rs545386394 0.00005
NM_002230.4(JUP):c.1371C>T (p.Cys457=) rs531692563 0.00004
NM_002230.4(JUP):c.162G>C (p.Thr54=) rs377681053 0.00004
NM_002230.4(JUP):c.1806C>T (p.Arg602=) rs781934535 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.2086+14G>A rs727504485 0.00004
NM_002230.4(JUP):c.321G>A (p.Glu107=) rs781978743 0.00004
NM_002230.4(JUP):c.522G>A (p.Ala174=) rs782745301 0.00004
NM_002230.4(JUP):c.945C>T (p.Leu315=) rs146804895 0.00004
NM_002230.4(JUP):c.966C>T (p.Tyr322=) rs200952834 0.00004
NM_002230.4(JUP):c.1218C>T (p.Asn406=) rs782565128 0.00003
NM_002230.4(JUP):c.1290A>G (p.Thr430=) rs897549158 0.00003
NM_002230.4(JUP):c.1497+15C>T rs1208242034 0.00003
NM_002230.4(JUP):c.153C>T (p.Arg51=) rs1002288225 0.00003
NM_002230.4(JUP):c.1653+18G>A rs1057520950 0.00003
NM_002230.4(JUP):c.1995C>T (p.Ser665=) rs782094877 0.00003
NM_002230.4(JUP):c.2087-14C>T rs781839198 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.474G>A (p.Val158=) rs572405296 0.00003
NM_002230.4(JUP):c.66C>T (p.Tyr22=) rs782575179 0.00003
NM_002230.4(JUP):c.707+13G>A rs370998940 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.1086C>T (p.Thr362=) rs781838058 0.00002
NM_002230.4(JUP):c.1152C>T (p.Thr384=) rs782386210 0.00002
NM_002230.4(JUP):c.1407C>T (p.Ala469=) rs782450410 0.00002
NM_002230.4(JUP):c.159C>T (p.Tyr53=) rs370760069 0.00002
NM_002230.4(JUP):c.1924+18A>C rs1057520892 0.00002
NM_002230.4(JUP):c.195G>T (p.Val65=) rs1454514424 0.00002
NM_002230.4(JUP):c.2087-18C>T rs776307936 0.00002
NM_002230.4(JUP):c.2208G>A (p.Pro736=) rs371508357 0.00002
NM_002230.4(JUP):c.351C>T (p.Ala117=) rs397517300 0.00002
NM_002230.4(JUP):c.447A>G (p.Lys149=) rs199853316 0.00002
NM_002230.4(JUP):c.51G>A (p.Gln17=) rs782236888 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.694G>A (p.Val232Ile) rs137989964 0.00002
NM_002230.4(JUP):c.707+14C>T rs1313165709 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.99C>T (p.Cys33=) rs139172952 0.00002
NM_002230.4(JUP):c.1017C>T (p.Ser339=) rs782357007 0.00001
NM_002230.4(JUP):c.1055-12T>A rs782667212 0.00001
NM_002230.4(JUP):c.1055-8T>C rs1394581499 0.00001
NM_002230.4(JUP):c.1059G>A (p.Gly353=) rs782648533 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.1125C>T (p.Thr375=) rs782108002 0.00001
NM_002230.4(JUP):c.1128G>A (p.Leu376=) rs781926392 0.00001
NM_002230.4(JUP):c.1158+10G>T rs199917743 0.00001
NM_002230.4(JUP):c.1165C>T (p.Leu389=) rs1057523570 0.00001
NM_002230.4(JUP):c.1299C>T (p.Ser433=) rs376345105 0.00001
NM_002230.4(JUP):c.1327C>T (p.Leu443=) rs140537908 0.00001
NM_002230.4(JUP):c.1347C>T (p.Asp449=) rs763261901 0.00001
NM_002230.4(JUP):c.1380C>T (p.Arg460=) rs782212737 0.00001
NM_002230.4(JUP):c.1470C>T (p.Asn490=) rs149248322 0.00001
NM_002230.4(JUP):c.1500A>T (p.Ala500=) rs869025443 0.00001
NM_002230.4(JUP):c.1506C>T (p.Ile502=) rs372963143 0.00001
NM_002230.4(JUP):c.1551G>A (p.Pro517=) rs988891105 0.00001
NM_002230.4(JUP):c.1566G>A (p.Ala522=) rs547437428 0.00001
NM_002230.4(JUP):c.1599G>A (p.Lys533=) rs150699961 0.00001
NM_002230.4(JUP):c.1623C>T (p.His541=) rs782477974 0.00001
NM_002230.4(JUP):c.1692C>T (p.Thr564=) rs781958880 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.1774-16C>T rs371727352 0.00001
NM_002230.4(JUP):c.1774-8C>T rs781837434 0.00001
NM_002230.4(JUP):c.1785G>A (p.Ser595=) rs782816522 0.00001
NM_002230.4(JUP):c.1815C>T (p.Ala605=) rs543862977 0.00001
NM_002230.4(JUP):c.1851G>A (p.Ala617=) rs1031612674 0.00001
NM_002230.4(JUP):c.1854C>T (p.Ala618=) rs782176670 0.00001
NM_002230.4(JUP):c.1908C>T (p.Ser636=) rs782122765 0.00001
NM_002230.4(JUP):c.1924+14G>T rs201959663 0.00001
NM_002230.4(JUP):c.192G>A (p.Gly64=) rs141237794 0.00001
NM_002230.4(JUP):c.2013C>T (p.Ser671=) rs1326867934 0.00001
NM_002230.4(JUP):c.2086+18T>A rs782095299 0.00001
NM_002230.4(JUP):c.2086+7G>C rs727504940 0.00001
NM_002230.4(JUP):c.2087-5C>T rs886052917 0.00001
NM_002230.4(JUP):c.209-12C>G rs201194744 0.00001
NM_002230.4(JUP):c.209-8G>A rs1165044090 0.00001
NM_002230.4(JUP):c.210T>C (p.Gly70=) rs782504602 0.00001
NM_002230.4(JUP):c.2121C>T (p.Ser707=) rs1477036549 0.00001
NM_002230.4(JUP):c.2193C>T (p.Asp731=) rs199683273 0.00001
NM_002230.4(JUP):c.252G>A (p.Arg84=) rs1555605953 0.00001
NM_002230.4(JUP):c.346C>T (p.Leu116=) rs147121864 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.469-12T>C rs782699765 0.00001
NM_002230.4(JUP):c.469-16del rs782421393 0.00001
NM_002230.4(JUP):c.525G>A (p.Ser175=) rs782794110 0.00001
NM_002230.4(JUP):c.591C>T (p.Ser197=) rs781813778 0.00001
NM_002230.4(JUP):c.648G>C (p.Arg216=) rs781795344 0.00001
NM_002230.4(JUP):c.705C>T (p.Leu235=) rs887639693 0.00001
NM_002230.4(JUP):c.707+7A>G rs373101758 0.00001
NM_002230.4(JUP):c.708-12C>G rs781970079 0.00001
NM_002230.4(JUP):c.708-7C>T rs397517301 0.00001
NM_002230.4(JUP):c.750G>A (p.Leu250=) rs148381639 0.00001
NM_002230.4(JUP):c.807G>T (p.Gly269=) rs781992518 0.00001
NM_002230.4(JUP):c.870C>T (p.Asp290=) rs1915903703 0.00001
NM_002230.4(JUP):c.87C>T (p.Gly29=) rs199530395 0.00001
NM_002230.4(JUP):c.910-5C>T rs1750432359 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.969T>C (p.Ser323=) rs868945297 0.00001
NM_002230.4(JUP):c.990C>T (p.Thr330=) rs1057521340 0.00001
NM_002230.4(JUP):c.1029C>T (p.Ser343=) rs2143597754
NM_002230.4(JUP):c.1035G>A (p.Lys345=)
NM_002230.4(JUP):c.1054+14C>T
NM_002230.4(JUP):c.1054+15C>T
NM_002230.4(JUP):c.1054+18G>A rs782112631
NM_002230.4(JUP):c.1054+8T>C rs2143596868
NM_002230.4(JUP):c.1055-11C>A
NM_002230.4(JUP):c.1055-11C>G
NM_002230.4(JUP):c.1055-16C>T
NM_002230.4(JUP):c.1055-4C>A
NM_002230.4(JUP):c.1068C>G (p.Ala356=) rs1915436816
NM_002230.4(JUP):c.1092C>T (p.Asn364=) rs1555603222
NM_002230.4(JUP):c.1107G>A (p.Val369=)
NM_002230.4(JUP):c.111C>T (p.Val37=) rs2143735905
NM_002230.4(JUP):c.1146G>A (p.Val382=) rs782620083
NM_002230.4(JUP):c.1158+11T>C
NM_002230.4(JUP):c.1158+14C>T rs2143591414
NM_002230.4(JUP):c.1158+16G>T
NM_002230.4(JUP):c.1158+17G>A
NM_002230.4(JUP):c.1158+20C>G
NM_002230.4(JUP):c.1159-11T>C rs1555602490
NM_002230.4(JUP):c.1159-13C>T rs201627219
NM_002230.4(JUP):c.1159-7C>T rs2143566266
NM_002230.4(JUP):c.1159-8C>A
NM_002230.4(JUP):c.1159-8C>T rs1457861232
NM_002230.4(JUP):c.1170G>T (p.Glu390Asp)
NM_002230.4(JUP):c.1173T>C (p.Ser391=)
NM_002230.4(JUP):c.1179G>A (p.Leu393=)
NM_002230.4(JUP):c.1212C>T (p.Asp404=) rs1482026041
NM_002230.4(JUP):c.1215C>A (p.Val405=)
NM_002230.4(JUP):c.1236G>C (p.Thr412=)
NM_002230.4(JUP):c.1269C>T (p.Ser423=)
NM_002230.4(JUP):c.1281G>A (p.Thr427=) rs373544304
NM_002230.4(JUP):c.1281G>T (p.Thr427=) rs373544304
NM_002230.4(JUP):c.1326C>T (p.Ile442=) rs2143562604
NM_002230.4(JUP):c.132G>A (p.Glu44=)
NM_002230.4(JUP):c.1386C>T (p.Leu462=)
NM_002230.4(JUP):c.1389T>C (p.Thr463=)
NM_002230.4(JUP):c.1395C>T (p.Arg465=)
NM_002230.4(JUP):c.1431T>A (p.Arg477=)
NM_002230.4(JUP):c.1434C>A (p.Leu478=) rs1597801519
NM_002230.4(JUP):c.1440T>C (p.Tyr480=)
NM_002230.4(JUP):c.1446C>T (p.Ile482=) rs1456308434
NM_002230.4(JUP):c.147C>T (p.Cys49=) rs200001999
NM_002230.4(JUP):c.1488A>G (p.Pro496=) rs1285508373
NM_002230.4(JUP):c.1497+16G>A
NM_002230.4(JUP):c.1497+16G>C
NM_002230.4(JUP):c.1498-10T>C
NM_002230.4(JUP):c.1498-15C>A
NM_002230.4(JUP):c.1498-16C>T
NM_002230.4(JUP):c.1498-20A>G
NM_002230.4(JUP):c.1509C>T (p.Gly503=) rs782445315
NM_002230.4(JUP):c.1518G>A (p.Arg506=)
NM_002230.4(JUP):c.1527C>T (p.Ala509=) rs2143460490
NM_002230.4(JUP):c.1528C>T (p.Leu510=) rs782136684
NM_002230.4(JUP):c.1536A>G (p.Pro512=)
NM_002230.4(JUP):c.1548C>G (p.Ala516=)
NM_002230.4(JUP):c.1551G>T (p.Pro517=)
NM_002230.4(JUP):c.156G>A (p.Gln52=) rs1916673290
NM_002230.4(JUP):c.1581C>T (p.Leu527=) rs1555599788
NM_002230.4(JUP):c.1587A>G (p.Gln529=) rs886052919
NM_002230.4(JUP):c.1588C>T (p.Leu530=)
NM_002230.4(JUP):c.1605C>T (p.His535=)
NM_002230.4(JUP):c.162G>T (p.Thr54=)
NM_002230.4(JUP):c.1638A>G (p.Thr546=)
NM_002230.4(JUP):c.1641G>A (p.Gln547=) rs1555599694
NM_002230.4(JUP):c.1653+12G>A rs1049591642
NM_002230.4(JUP):c.1653+16G>A
NM_002230.4(JUP):c.1653+7G>A rs1555599671
NM_002230.4(JUP):c.1653+9G>A
NM_002230.4(JUP):c.1671G>A (p.Glu557=)
NM_002230.4(JUP):c.1692C>G (p.Thr564=)
NM_002230.4(JUP):c.1695A>G (p.Gly565=)
NM_002230.4(JUP):c.1713C>A (p.Ala571=)
NM_002230.4(JUP):c.1713C>T (p.Ala571=)
NM_002230.4(JUP):c.1722C>A (p.Pro574=) rs1016855983
NM_002230.4(JUP):c.1722C>G (p.Pro574=) rs1016855983
NM_002230.4(JUP):c.1722C>T (p.Pro574=) rs1016855983
NM_002230.4(JUP):c.1743C>T (p.Phe581=)
NM_002230.4(JUP):c.1746G>A (p.Arg582=)
NM_002230.4(JUP):c.1749C>T (p.Leu583=)
NM_002230.4(JUP):c.174C>T (p.Thr58=)
NM_002230.4(JUP):c.1764G>T (p.Leu588=) rs541032494
NM_002230.4(JUP):c.1773+19G>A
NM_002230.4(JUP):c.1774-15G>A
NM_002230.4(JUP):c.1774-17A>C
NM_002230.4(JUP):c.1774-4C>T
NM_002230.4(JUP):c.1774-5C>G rs1555599040
NM_002230.4(JUP):c.1777C>T (p.Leu593=)
NM_002230.4(JUP):c.1779G>A (p.Leu593=)
NM_002230.4(JUP):c.177C>G (p.Thr59=)
NM_002230.4(JUP):c.177C>T (p.Thr59=)
NM_002230.4(JUP):c.1785G>C (p.Ser595=)
NM_002230.4(JUP):c.1815C>G (p.Ala605=)
NM_002230.4(JUP):c.1824G>A (p.Leu608=) rs376043057
NM_002230.4(JUP):c.1830G>A (p.Glu610=)
NM_002230.4(JUP):c.1854C>G (p.Ala618=) rs782176670
NM_002230.4(JUP):c.1878C>T (p.Ala626=)
NM_002230.4(JUP):c.1890C>T (p.Leu630=)
NM_002230.4(JUP):c.1924+11G>A
NM_002230.4(JUP):c.1924+16G>T
NM_002230.4(JUP):c.1924+7T>C
NM_002230.4(JUP):c.1924+8G>T rs730880115
NM_002230.4(JUP):c.1925-17C>T rs1555598762
NM_002230.4(JUP):c.1925-8C>T rs2143420758
NM_002230.4(JUP):c.1929C>G (p.Thr643=) rs1555598746
NM_002230.4(JUP):c.1938T>C (p.Ala646=) rs2143420014
NM_002230.4(JUP):c.1944C>G (p.Val648=)
NM_002230.4(JUP):c.1974A>G (p.Pro658=) rs782733127
NM_002230.4(JUP):c.1989C>G (p.Arg663=)
NM_002230.4(JUP):c.2016C>T (p.Leu672=)
NM_002230.4(JUP):c.2019C>T (p.Phe673=)
NM_002230.4(JUP):c.2022G>A (p.Lys674=) rs1914011102
NM_002230.4(JUP):c.2028C>T (p.Asp676=)
NM_002230.4(JUP):c.2046+10C>T
NM_002230.4(JUP):c.2046+15T>G
NM_002230.4(JUP):c.2046+19A>G
NM_002230.4(JUP):c.2046T>A (p.Ala682=) rs782632671
NM_002230.4(JUP):c.2047-11T>C
NM_002230.4(JUP):c.2047-14C>T rs116666639
NM_002230.4(JUP):c.2047-17TC[3]
NM_002230.4(JUP):c.2055C>T (p.Ser685=) rs1913708075
NM_002230.4(JUP):c.2079T>C (p.Tyr693=) rs1555597744
NM_002230.4(JUP):c.208+11C>T rs2143733221
NM_002230.4(JUP):c.208+14G>A
NM_002230.4(JUP):c.208+15G>A
NM_002230.4(JUP):c.2086+19C>T
NM_002230.4(JUP):c.2087-17C>T
NM_002230.4(JUP):c.2087-19C>A rs1913635624
NM_002230.4(JUP):c.2087-8G>A
NM_002230.4(JUP):c.2087-9_2087-8delinsCT rs2143375848
NM_002230.4(JUP):c.209-14C>A
NM_002230.4(JUP):c.209-18T>C
NM_002230.4(JUP):c.209-4C>G rs1555605999
NM_002230.4(JUP):c.2100C>G (p.Thr700=)
NM_002230.4(JUP):c.2130C>A (p.Pro710=) rs2143374346
NM_002230.4(JUP):c.2139G>A (p.Pro713=) rs782165431
NM_002230.4(JUP):c.2145G>A (p.Glu715=)
NM_002230.4(JUP):c.2190C>T (p.Ser730=)
NM_002230.4(JUP):c.2208G>T (p.Pro736=) rs371508357
NM_002230.4(JUP):c.2211C>T (p.Tyr737=) rs2143370644
NM_002230.4(JUP):c.2214C>A (p.Pro738=) rs781848758
NM_002230.4(JUP):c.2220A>G (p.Ala740=) rs142102308
NM_002230.4(JUP):c.2238G>A (p.Ter746=)
NM_002230.4(JUP):c.240C>T (p.Ala80=) rs782139792
NM_002230.4(JUP):c.279G>A (p.Val93=) rs1208581123
NM_002230.4(JUP):c.294C>T (p.Ser98=) rs2143696152
NM_002230.4(JUP):c.315G>A (p.Gln105=) rs375489362
NM_002230.4(JUP):c.318G>T (p.Val106=)
NM_002230.4(JUP):c.337C>T (p.Leu113=)
NM_002230.4(JUP):c.33C>T (p.Ile11=) rs2143738156
NM_002230.4(JUP):c.351C>G (p.Ala117=) rs397517300
NM_002230.4(JUP):c.357G>T (p.Pro119=) rs782579395
NM_002230.4(JUP):c.372G>A (p.Lys124=)
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.381T>C (p.Ile127=)
NM_002230.4(JUP):c.390C>G (p.Leu130=) rs1555605734
NM_002230.4(JUP):c.396C>T (p.Asn132=) rs782797349
NM_002230.4(JUP):c.408T>C (p.Asp136=)
NM_002230.4(JUP):c.433C>T (p.Pro145Ser)
NM_002230.4(JUP):c.456C>T (p.Asn152=) rs781907298
NM_002230.4(JUP):c.468+19T>G rs2143690687
NM_002230.4(JUP):c.468+7G>A rs1916226554
NM_002230.4(JUP):c.468+8A>G
NM_002230.4(JUP):c.469-13dup
NM_002230.4(JUP):c.486G>T (p.Ala162=)
NM_002230.4(JUP):c.501C>T (p.Asn167=)
NM_002230.4(JUP):c.537G>A (p.Leu179=)
NM_002230.4(JUP):c.549C>G (p.Pro183=) rs112787493
NM_002230.4(JUP):c.555G>A (p.Leu185=) rs1555605299
NM_002230.4(JUP):c.564T>C (p.Ala188=)
NM_002230.4(JUP):c.57A>G (p.Thr19=)
NM_002230.4(JUP):c.588C>T (p.Thr196=) rs1597823864
NM_002230.4(JUP):c.597G>A (p.Leu199=) rs2143682126
NM_002230.4(JUP):c.639C>T (p.Ser213=) rs782266138
NM_002230.4(JUP):c.642C>T (p.His214=) rs2143681143
NM_002230.4(JUP):c.648G>A (p.Arg216=)
NM_002230.4(JUP):c.655C>T (p.Leu219=)
NM_002230.4(JUP):c.657G>A (p.Leu219=)
NM_002230.4(JUP):c.660C>G (p.Leu220=)
NM_002230.4(JUP):c.669C>T (p.Phe223=)
NM_002230.4(JUP):c.707+12T>C rs782282188
NM_002230.4(JUP):c.707+19T>G
NM_002230.4(JUP):c.707+20G>T
NM_002230.4(JUP):c.707+9C>G rs561653700
NM_002230.4(JUP):c.708-11C>T
NM_002230.4(JUP):c.708-13C>A
NM_002230.4(JUP):c.708-3dup rs782230165
NM_002230.4(JUP):c.708-6C>T rs782704213
NM_002230.4(JUP):c.708-8C>T
NM_002230.4(JUP):c.708-9C>A rs1915931667
NM_002230.4(JUP):c.708-9C>T rs1915931667
NM_002230.4(JUP):c.726C>T (p.Val242=) rs2143652970
NM_002230.4(JUP):c.729G>A (p.Leu243=) rs2143652897
NM_002230.4(JUP):c.729G>C (p.Leu243=)
NM_002230.4(JUP):c.747G>A (p.Thr249=)
NM_002230.4(JUP):c.762C>G (p.Leu254=) rs781805854
NM_002230.4(JUP):c.763C>T (p.Leu255=) rs1005433215
NM_002230.4(JUP):c.798G>A (p.Leu266=)
NM_002230.4(JUP):c.813A>G (p.Gln271=) rs1597817544
NM_002230.4(JUP):c.828G>C (p.Leu276=)
NM_002230.4(JUP):c.831C>T (p.Leu277=) rs1915911159
NM_002230.4(JUP):c.84G>C (p.Ser28=) rs144137028
NM_002230.4(JUP):c.852C>T (p.Phe284=)
NM_002230.4(JUP):c.855G>A (p.Leu285=)
NM_002230.4(JUP):c.855G>C (p.Leu285=) rs1392149768
NM_002230.4(JUP):c.909+10C>T rs2143648785
NM_002230.4(JUP):c.909+20C>T rs2143648546
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002230.4(JUP):c.910-14C>T
NM_002230.4(JUP):c.910-16C>T
NM_002230.4(JUP):c.910-19A>G
NM_002230.4(JUP):c.910-19A>T
NM_002230.4(JUP):c.910-7C>T rs782066434
NM_002230.4(JUP):c.910-9T>A
NM_002230.4(JUP):c.910-9T>C rs1915494472
NM_002230.4(JUP):c.915C>A (p.Ile305=)
NM_002230.4(JUP):c.927T>C (p.Asn309=) rs571363075
NM_002230.4(JUP):c.93C>T (p.Asn31=) rs1597835146
NM_002230.4(JUP):c.96C>T (p.Thr32=)
NM_002230.4(JUP):c.981G>A (p.Leu327=) rs1295630627
NM_002230.4(JUP):c.984C>T (p.Leu328=)
NM_002230.4(JUP):c.9G>C (p.Val3=)

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