ClinVar Miner

List of variants reported as uncertain significance for Primary dilated cardiomyopathy by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 835
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006440.5(TXNRD2):c.1174T>C (p.Tyr392His) rs201971987 0.00052
NM_006393.3(NEBL):c.277A>G (p.Ile93Val) rs762884881 0.00044
NM_006440.5(TXNRD2):c.77T>G (p.Val26Gly) rs925920723 0.00023
NM_006393.3(NEBL):c.2417C>T (p.Thr806Ile) rs200705273 0.00020
NM_006393.3(NEBL):c.14T>C (p.Val5Ala) rs145770601 0.00019
NM_006393.3(NEBL):c.1837C>T (p.Arg613Ter) rs146471913 0.00019
NM_006440.5(TXNRD2):c.221C>G (p.Ser74Cys) rs200942544 0.00019
NM_006440.5(TXNRD2):c.662C>T (p.Thr221Met) rs188258380 0.00019
NM_006393.3(NEBL):c.2101C>A (p.Pro701Thr) rs371551337 0.00016
NM_006393.3(NEBL):c.258+1G>A rs139581346 0.00016
NM_006440.5(TXNRD2):c.2T>C (p.Met1Thr) rs749057584 0.00016
NM_006440.5(TXNRD2):c.591+1G>C rs200610775 0.00016
NM_001318895.3(FHL2):c.523A>C (p.Thr175Pro) rs200116659 0.00014
NM_006393.3(NEBL):c.1227+5G>A rs370026081 0.00014
NM_006393.3(NEBL):c.1864A>C (p.Ser622Arg) rs142157051 0.00014
NM_006440.5(TXNRD2):c.1036C>T (p.Arg346Trp) rs61736941 0.00014
NM_006440.5(TXNRD2):c.199G>A (p.Val67Met) rs372803804 0.00014
NM_006440.5(TXNRD2):c.259G>A (p.Val87Ile) rs201658653 0.00014
NM_001318895.3(FHL2):c.512C>T (p.Thr171Met) rs727504674 0.00013
NM_006440.5(TXNRD2):c.1475G>A (p.Arg492Gln) rs368561764 0.00013
NM_006440.5(TXNRD2):c.821G>A (p.Arg274Gln) rs374364917 0.00013
NM_006393.3(NEBL):c.214C>A (p.Pro72Thr) rs150000482 0.00012
NM_006440.5(TXNRD2):c.623G>A (p.Ser208Asn) rs201531690 0.00012
NM_006393.3(NEBL):c.523G>A (p.Ala175Thr) rs71541562 0.00011
NM_006440.5(TXNRD2):c.1177G>A (p.Asp393Asn) rs369142382 0.00011
NM_006393.3(NEBL):c.1674A>C (p.Arg558Ser) rs376405982 0.00010
NM_006393.3(NEBL):c.2344A>G (p.Met782Val) rs200574474 0.00010
NM_006440.5(TXNRD2):c.236G>A (p.Arg79Gln) rs373979810 0.00010
NM_001318895.3(FHL2):c.392G>A (p.Arg131His) rs371421189 0.00009
NM_001318895.3(FHL2):c.820G>A (p.Asp274Asn) rs145070796 0.00009
NM_006393.3(NEBL):c.1652C>T (p.Thr551Ile) rs191012363 0.00009
NM_006440.5(TXNRD2):c.1549C>T (p.Pro517Ser) rs756196216 0.00009
NM_006440.5(TXNRD2):c.745C>T (p.Arg249Cys) rs557142042 0.00009
NM_006393.3(NEBL):c.1540G>T (p.Ala514Ser) rs781572930 0.00008
NM_006393.3(NEBL):c.1946A>G (p.Gln649Arg) rs770416802 0.00008
NM_006440.5(TXNRD2):c.1030G>T (p.Asp344Tyr) rs373839226 0.00008
NM_006393.3(NEBL):c.1366A>G (p.Ile456Val) rs144402571 0.00007
NM_006393.3(NEBL):c.2848A>G (p.Met950Val) rs201838351 0.00007
NM_006393.3(NEBL):c.535C>T (p.Arg179Ter) rs370153729 0.00007
NM_006440.5(TXNRD2):c.175G>A (p.Ala59Thr) rs752863555 0.00007
NM_006440.5(TXNRD2):c.611A>G (p.Tyr204Cys) rs199765650 0.00007
NM_006393.3(NEBL):c.1225G>A (p.Glu409Lys) rs767565380 0.00006
NM_006393.3(NEBL):c.1258A>G (p.Ile420Val) rs761905318 0.00006
NM_006393.3(NEBL):c.1715C>T (p.Ser572Phe) rs778833975 0.00006
NM_006393.3(NEBL):c.1721T>C (p.Ile574Thr) rs754884291 0.00006
NM_006393.3(NEBL):c.2398G>A (p.Val800Ile) rs367986765 0.00006
NM_006393.3(NEBL):c.326T>C (p.Ile109Thr) rs371620771 0.00006
NM_006393.3(NEBL):c.430G>C (p.Glu144Gln) rs147430943 0.00006
NM_006393.3(NEBL):c.56G>A (p.Gly19Glu) rs727503338 0.00006
NM_006393.3(NEBL):c.740A>G (p.Asn247Ser) rs147901148 0.00006
NM_006440.5(TXNRD2):c.1091G>A (p.Arg364Gln) rs199734322 0.00006
NM_006440.5(TXNRD2):c.1126A>G (p.Arg376Gly) rs371547623 0.00006
NM_006440.5(TXNRD2):c.1157C>A (p.Ser386Tyr) rs377598025 0.00006
NM_006440.5(TXNRD2):c.1559C>G (p.Thr520Arg) rs774708598 0.00006
NM_006440.5(TXNRD2):c.820C>T (p.Arg274Trp) rs571571452 0.00006
NM_001318895.3(FHL2):c.374C>A (p.Thr125Asn) rs773356788 0.00005
NM_001318895.3(FHL2):c.725G>A (p.Arg242Gln) rs188279857 0.00005
NM_006393.3(NEBL):c.1117-3C>T rs376080967 0.00005
NM_006393.3(NEBL):c.2092A>G (p.Ile698Val) rs565742208 0.00005
NM_006393.3(NEBL):c.259-2A>T rs904604682 0.00005
NM_006440.5(TXNRD2):c.1348-2A>G rs768600057 0.00005
NM_006440.5(TXNRD2):c.1413C>T (p.Gly471=) rs753841469 0.00005
NM_006440.5(TXNRD2):c.235C>T (p.Arg79Trp) rs762060966 0.00005
NM_006440.5(TXNRD2):c.850G>C (p.Val284Leu) rs201177571 0.00005
NM_006440.5(TXNRD2):c.917C>T (p.Thr306Met) rs371153395 0.00005
NM_001318895.3(FHL2):c.121G>A (p.Glu41Lys) rs552625336 0.00004
NM_001318895.3(FHL2):c.430A>G (p.Lys144Glu) rs770284685 0.00004
NM_001318895.3(FHL2):c.782G>A (p.Arg261His) rs371759004 0.00004
NM_006393.3(NEBL):c.1205A>C (p.Tyr402Ser) rs375569591 0.00004
NM_006393.3(NEBL):c.1227+4C>T rs373813159 0.00004
NM_006393.3(NEBL):c.1316G>A (p.Arg439Gln) rs755916272 0.00004
NM_006393.3(NEBL):c.1667G>C (p.Ser556Thr) rs373244101 0.00004
NM_006393.3(NEBL):c.182C>T (p.Ser61Phe) rs543765307 0.00004
NM_006393.3(NEBL):c.1997C>T (p.Pro666Leu) rs771905060 0.00004
NM_006393.3(NEBL):c.2006T>C (p.Met669Thr) rs375197621 0.00004
NM_006393.3(NEBL):c.2012C>T (p.Pro671Leu) rs770107953 0.00004
NM_006393.3(NEBL):c.2323del (p.Glu775fs) rs776502857 0.00004
NM_006393.3(NEBL):c.241G>A (p.Gly81Ser) rs369862013 0.00004
NM_006393.3(NEBL):c.2445G>A (p.Val815=) rs578252294 0.00004
NM_006393.3(NEBL):c.2718C>A (p.Ser906Arg) rs768402237 0.00004
NM_006393.3(NEBL):c.310C>T (p.Arg104Trp) rs548671032 0.00004
NM_006393.3(NEBL):c.311G>A (p.Arg104Gln) rs537661572 0.00004
NM_006393.3(NEBL):c.412G>C (p.Asp138His) rs561316471 0.00004
NM_006393.3(NEBL):c.625G>A (p.Ala209Thr) rs142138590 0.00004
NM_006393.3(NEBL):c.715A>G (p.Met239Val) rs1037792824 0.00004
NM_006393.3(NEBL):c.721G>A (p.Asp241Asn) rs372364915 0.00004
NM_006393.3(NEBL):c.815A>G (p.Asp272Gly) rs778861859 0.00004
NM_006393.3(NEBL):c.872A>G (p.His291Arg) rs147853594 0.00004
NM_006393.3(NEBL):c.903C>T (p.Gly301=) rs200799762 0.00004
NM_006440.5(TXNRD2):c.1001C>T (p.Thr334Ile) rs780014083 0.00004
NM_006440.5(TXNRD2):c.1054C>A (p.Pro352Thr) rs1388529732 0.00004
NM_006440.5(TXNRD2):c.1376T>C (p.Leu459Pro) rs776104767 0.00004
NM_006440.5(TXNRD2):c.139G>A (p.Gly47Arg) rs759298418 0.00004
NM_006440.5(TXNRD2):c.1406A>G (p.Asn469Ser) rs757704344 0.00004
NM_006440.5(TXNRD2):c.1436T>C (p.Leu479Pro) rs756559860 0.00004
NM_006440.5(TXNRD2):c.1514T>A (p.Val505Asp) rs759613137 0.00004
NM_006440.5(TXNRD2):c.1522C>T (p.Arg508Cys) rs368176907 0.00004
NM_006440.5(TXNRD2):c.40C>T (p.Arg14Cys) rs1259706318 0.00004
NM_006440.5(TXNRD2):c.449+4C>T rs755751835 0.00004
NM_006440.5(TXNRD2):c.461A>T (p.Tyr154Phe) rs886509891 0.00004
NM_006440.5(TXNRD2):c.595G>A (p.Glu199Lys) rs763888077 0.00004
NM_006440.5(TXNRD2):c.760C>T (p.Arg254Cys) rs183950022 0.00004
NM_001318895.3(FHL2):c.281C>T (p.Ser94Phe) rs201826187 0.00003
NM_001318895.3(FHL2):c.487G>A (p.Val163Ile) rs753660280 0.00003
NM_001318895.3(FHL2):c.688G>A (p.Gly230Arg) rs534279240 0.00003
NM_006393.3(NEBL):c.113G>T (p.Ser38Ile) rs375265257 0.00003
NM_006393.3(NEBL):c.1639C>T (p.Arg547Ter) rs149647815 0.00003
NM_006393.3(NEBL):c.2041G>A (p.Glu681Lys) rs1060503679 0.00003
NM_006393.3(NEBL):c.2148+1G>A rs762179161 0.00003
NM_006393.3(NEBL):c.2401G>A (p.Val801Met) rs772136984 0.00003
NM_006393.3(NEBL):c.2518+6C>G rs771316603 0.00003
NM_006393.3(NEBL):c.2533C>T (p.Arg845Cys) rs776914197 0.00003
NM_006393.3(NEBL):c.2596C>T (p.Leu866Phe) rs373721327 0.00003
NM_006393.3(NEBL):c.2644C>T (p.Arg882Ter) rs151012132 0.00003
NM_006393.3(NEBL):c.2841G>A (p.Met947Ile) rs745574506 0.00003
NM_006393.3(NEBL):c.536G>A (p.Arg179Gln) rs750476653 0.00003
NM_006393.3(NEBL):c.670A>G (p.Lys224Glu) rs148079637 0.00003
NM_006393.3(NEBL):c.795C>G (p.Ser265Arg) rs368513995 0.00003
NM_006393.3(NEBL):c.798+1G>A rs746179839 0.00003
NM_006393.3(NEBL):c.903+1G>T rs775057540 0.00003
NM_006393.3(NEBL):c.904C>T (p.Arg302Ter) rs149737043 0.00003
NM_006440.5(TXNRD2):c.1037G>A (p.Arg346Gln) rs201349663 0.00003
NM_006440.5(TXNRD2):c.1446G>T (p.Lys482Asn) rs371797598 0.00003
NM_006440.5(TXNRD2):c.1453G>T (p.Ala485Ser) rs960962542 0.00003
NM_006440.5(TXNRD2):c.1535G>A (p.Arg512His) rs375708279 0.00003
NM_006440.5(TXNRD2):c.544G>A (p.Asp182Asn) rs752857898 0.00003
NM_006440.5(TXNRD2):c.572G>A (p.Arg191Gln) rs730880248 0.00003
NM_001318895.3(FHL2):c.175C>T (p.Arg59Trp) rs753335287 0.00002
NM_001318895.3(FHL2):c.274T>C (p.Cys92Arg) rs149138019 0.00002
NM_001318895.3(FHL2):c.275G>A (p.Cys92Tyr) rs765835400 0.00002
NM_001318895.3(FHL2):c.332-6T>A rs754744445 0.00002
NM_001318895.3(FHL2):c.644A>C (p.Asp215Ala) rs758618755 0.00002
NM_006393.3(NEBL):c.1110A>C (p.Gln370His) rs1267119039 0.00002
NM_006393.3(NEBL):c.1279C>T (p.Leu427Phe) rs770142870 0.00002
NM_006393.3(NEBL):c.1429G>C (p.Ala477Pro) rs758358892 0.00002
NM_006393.3(NEBL):c.16T>C (p.Phe6Leu) rs777445403 0.00002
NM_006393.3(NEBL):c.1963-13C>T rs727504904 0.00002
NM_006393.3(NEBL):c.2026G>A (p.Val676Met) rs149878829 0.00002
NM_006393.3(NEBL):c.2044C>T (p.Gln682Ter) rs763512999 0.00002
NM_006393.3(NEBL):c.2104C>T (p.Pro702Ser) rs780795108 0.00002
NM_006393.3(NEBL):c.2108A>G (p.Glu703Gly) rs907637021 0.00002
NM_006393.3(NEBL):c.218T>C (p.Met73Thr) rs374218451 0.00002
NM_006393.3(NEBL):c.2241G>A (p.Ser747=) rs377702958 0.00002
NM_006393.3(NEBL):c.2310G>A (p.Met770Ile) rs200334335 0.00002
NM_006393.3(NEBL):c.2329C>T (p.Gln777Ter) rs752922937 0.00002
NM_006393.3(NEBL):c.2485G>A (p.Val829Met) rs727504979 0.00002
NM_006393.3(NEBL):c.2645G>A (p.Arg882Gln) rs758877499 0.00002
NM_006393.3(NEBL):c.2868A>G (p.Leu956=) rs779415582 0.00002
NM_006393.3(NEBL):c.36A>C (p.Glu12Asp) rs368491819 0.00002
NM_006393.3(NEBL):c.571A>T (p.Ile191Phe) rs746403443 0.00002
NM_006393.3(NEBL):c.599G>C (p.Gly200Ala) rs727503336 0.00002
NM_006393.3(NEBL):c.650A>G (p.Glu217Gly) rs755291598 0.00002
NM_006393.3(NEBL):c.807C>G (p.Tyr269Ter) rs748781067 0.00002
NM_006440.5(TXNRD2):c.104-3C>G rs746380381 0.00002
NM_006440.5(TXNRD2):c.1090C>T (p.Arg364Trp) rs772667712 0.00002
NM_006440.5(TXNRD2):c.1123G>A (p.Gly375Arg) rs757239766 0.00002
NM_006440.5(TXNRD2):c.112C>T (p.Arg38Trp) rs1044687486 0.00002
NM_006440.5(TXNRD2):c.1321C>T (p.Arg441Ter) rs200162480 0.00002
NM_006440.5(TXNRD2):c.1322G>A (p.Arg441Gln) rs759374389 0.00002
NM_006440.5(TXNRD2):c.1348-9G>A rs774694967 0.00002
NM_006440.5(TXNRD2):c.1463C>T (p.Ala488Val) rs752947034 0.00002
NM_006440.5(TXNRD2):c.1534C>T (p.Arg512Cys) rs201943415 0.00002
NM_006440.5(TXNRD2):c.214G>A (p.Glu72Lys) rs779740988 0.00002
NM_006440.5(TXNRD2):c.361G>A (p.Val121Met) rs756368327 0.00002
NM_006440.5(TXNRD2):c.417del (p.Asn140fs) rs780054798 0.00002
NM_006440.5(TXNRD2):c.571C>T (p.Arg191Trp) rs751123675 0.00002
NM_006440.5(TXNRD2):c.847C>T (p.Arg283Trp) rs200981451 0.00002
NM_006440.5(TXNRD2):c.868G>A (p.Gly290Ser) rs777357363 0.00002
NM_006440.5(TXNRD2):c.869G>T (p.Gly290Val) rs543290126 0.00002
NM_006440.5(TXNRD2):c.969A>C (p.Arg323Ser) rs765171416 0.00002
NM_001318895.3(FHL2):c.104T>G (p.Leu35Arg) rs1470032926 0.00001
NM_001318895.3(FHL2):c.130G>A (p.Gly44Arg) rs780938900 0.00001
NM_001318895.3(FHL2):c.176G>A (p.Arg59Gln) rs766070936 0.00001
NM_001318895.3(FHL2):c.193T>C (p.Cys65Arg) rs768709080 0.00001
NM_001318895.3(FHL2):c.211T>G (p.Cys71Gly) rs1255979544 0.00001
NM_001318895.3(FHL2):c.224T>G (p.Leu75Arg) rs1208356626 0.00001
NM_001318895.3(FHL2):c.406A>G (p.Ile136Val) rs780774664 0.00001
NM_001318895.3(FHL2):c.509C>T (p.Thr170Ile) rs750539692 0.00001
NM_001318895.3(FHL2):c.595C>T (p.Arg199Cys) rs373259092 0.00001
NM_001318895.3(FHL2):c.72G>C (p.Glu24Asp) rs781170250 0.00001
NM_001318895.3(FHL2):c.739G>A (p.Asp247Asn) rs769888361 0.00001
NM_001318895.3(FHL2):c.815G>A (p.Cys272Tyr) rs773266937 0.00001
NM_006393.3(NEBL):c.1003A>C (p.Ser335Arg) rs771769135 0.00001
NM_006393.3(NEBL):c.103G>A (p.Glu35Lys) rs878854902 0.00001
NM_006393.3(NEBL):c.1079A>T (p.Tyr360Phe) rs1317887456 0.00001
NM_006393.3(NEBL):c.1130A>G (p.Glu377Gly) rs373129570 0.00001
NM_006393.3(NEBL):c.1144G>A (p.Glu382Lys) rs749629919 0.00001
NM_006393.3(NEBL):c.1207A>G (p.Ile403Val) rs200534792 0.00001
NM_006393.3(NEBL):c.1208T>C (p.Ile403Thr) rs766378863 0.00001
NM_006393.3(NEBL):c.1246T>G (p.Leu416Val) rs1473800986 0.00001
NM_006393.3(NEBL):c.1367T>C (p.Ile456Thr) rs761169055 0.00001
NM_006393.3(NEBL):c.1441G>A (p.Ala481Thr) rs1291010559 0.00001
NM_006393.3(NEBL):c.1442C>T (p.Ala481Val) rs1237891829 0.00001
NM_006393.3(NEBL):c.149G>A (p.Ser50Asn) rs1207801626 0.00001
NM_006393.3(NEBL):c.153+5G>A rs766864066 0.00001
NM_006393.3(NEBL):c.1541C>T (p.Ala514Val) rs1256153819 0.00001
NM_006393.3(NEBL):c.1543T>A (p.Ser515Thr) rs990217100 0.00001
NM_006393.3(NEBL):c.1546G>A (p.Glu516Lys) rs45461595 0.00001
NM_006393.3(NEBL):c.1549A>G (p.Met517Val) rs1430856878 0.00001
NM_006393.3(NEBL):c.157C>T (p.Arg53Cys) rs759216770 0.00001
NM_006393.3(NEBL):c.1608G>T (p.Met536Ile) rs794729078 0.00001
NM_006393.3(NEBL):c.1611A>C (p.Gln537His) rs865956162 0.00001
NM_006393.3(NEBL):c.1613T>A (p.Val538Glu) rs534382445 0.00001
NM_006393.3(NEBL):c.1773T>G (p.Ser591Arg) rs1206155356 0.00001
NM_006393.3(NEBL):c.1776G>A (p.Ala592=) rs113406843 0.00001
NM_006393.3(NEBL):c.1826C>G (p.Pro609Arg) rs942030467 0.00001
NM_006393.3(NEBL):c.1879A>G (p.Lys627Glu) rs766695780 0.00001
NM_006393.3(NEBL):c.1961A>T (p.Asn654Ile) rs1839521789 0.00001
NM_006393.3(NEBL):c.1993A>C (p.Thr665Pro) rs936216558 0.00001
NM_006393.3(NEBL):c.1996C>T (p.Pro666Ser) rs772963438 0.00001
NM_006393.3(NEBL):c.2002A>G (p.Ser668Gly) rs774221912 0.00001
NM_006393.3(NEBL):c.2033G>A (p.Arg678Gln) rs774294999 0.00001
NM_006393.3(NEBL):c.2105C>T (p.Pro702Leu) rs1838860400 0.00001
NM_006393.3(NEBL):c.2174G>C (p.Arg725Thr) rs772956028 0.00001
NM_006393.3(NEBL):c.2241+6T>C rs757456889 0.00001
NM_006393.3(NEBL):c.2297A>T (p.Asp766Val) rs1479921102 0.00001
NM_006393.3(NEBL):c.2308A>G (p.Met770Val) rs745738658 0.00001
NM_006393.3(NEBL):c.2390T>C (p.Phe797Ser) rs1838312385 0.00001
NM_006393.3(NEBL):c.2407G>A (p.Asp803Asn) rs774594552 0.00001
NM_006393.3(NEBL):c.242G>C (p.Gly81Ala) rs1442801795 0.00001
NM_006393.3(NEBL):c.2507G>A (p.Gly836Glu) rs768915725 0.00001
NM_006393.3(NEBL):c.2513T>C (p.Ile838Thr) rs749452317 0.00001
NM_006393.3(NEBL):c.2588C>G (p.Ser863Cys) rs150152361 0.00001
NM_006393.3(NEBL):c.2602A>G (p.Met868Val) rs908360300 0.00001
NM_006393.3(NEBL):c.2611+6A>G rs762305537 0.00001
NM_006393.3(NEBL):c.2668G>A (p.Gly890Ser) rs756192561 0.00001
NM_006393.3(NEBL):c.2681G>A (p.Gly894Glu) rs876657926 0.00001
NM_006393.3(NEBL):c.2704G>A (p.Glu902Lys) rs761425280 0.00001
NM_006393.3(NEBL):c.2761G>C (p.Ala921Pro) rs1057518516 0.00001
NM_006393.3(NEBL):c.2914G>A (p.Glu972Lys) rs1554769095 0.00001
NM_006393.3(NEBL):c.2959A>G (p.Ile987Val) rs746298728 0.00001
NM_006393.3(NEBL):c.2T>C (p.Met1Thr) rs972622200 0.00001
NM_006393.3(NEBL):c.3028A>G (p.Ile1010Val) rs1400947444 0.00001
NM_006393.3(NEBL):c.325A>G (p.Ile109Val) rs750081149 0.00001
NM_006393.3(NEBL):c.340G>T (p.Ala114Ser) rs996144249 0.00001
NM_006393.3(NEBL):c.463A>G (p.Asn155Asp) rs1344682606 0.00001
NM_006393.3(NEBL):c.640C>G (p.Pro214Ala) rs1392632186 0.00001
NM_006393.3(NEBL):c.684A>G (p.Gln228=) rs533225203 0.00001
NM_006393.3(NEBL):c.685-1G>C rs1843486814 0.00001
NM_006393.3(NEBL):c.686T>C (p.Ile229Thr) rs774523404 0.00001
NM_006393.3(NEBL):c.743C>T (p.Pro248Leu) rs1409547551 0.00001
NM_006393.3(NEBL):c.798T>C (p.Asn266=) rs770019579 0.00001
NM_006393.3(NEBL):c.799-4A>G rs773699320 0.00001
NM_006393.3(NEBL):c.834T>A (p.Asp278Glu) rs562939997 0.00001
NM_006393.3(NEBL):c.857T>A (p.Leu286Ter) rs752717041 0.00001
NM_006393.3(NEBL):c.901G>A (p.Gly301Ser) rs773469997 0.00001
NM_006393.3(NEBL):c.903+2dup rs1473850704 0.00001
NM_006393.3(NEBL):c.986G>T (p.Gly329Val) rs776185255 0.00001
NM_006393.3(NEBL):c.989A>G (p.Asn330Ser) rs876657927 0.00001
NM_006440.5(TXNRD2):c.1078G>A (p.Val360Met) rs747350610 0.00001
NM_006440.5(TXNRD2):c.1086+4C>T rs753380240 0.00001
NM_006440.5(TXNRD2):c.1087-2A>G rs1289412583 0.00001
NM_006440.5(TXNRD2):c.113G>A (p.Arg38Gln) rs777384922 0.00001
NM_006440.5(TXNRD2):c.1156T>C (p.Ser386Pro) rs960610186 0.00001
NM_006440.5(TXNRD2):c.1169T>G (p.Met390Arg) rs758236709 0.00001
NM_006440.5(TXNRD2):c.1214A>G (p.Tyr405Cys) rs934895346 0.00001
NM_006440.5(TXNRD2):c.1234G>A (p.Glu412Lys) rs781432469 0.00001
NM_006440.5(TXNRD2):c.1285G>A (p.Ala429Thr) rs767323099 0.00001
NM_006440.5(TXNRD2):c.1289A>C (p.His430Pro) rs376463546 0.00001
NM_006440.5(TXNRD2):c.1331C>G (p.Ser444Cys) rs749643976 0.00001
NM_006440.5(TXNRD2):c.1412G>A (p.Gly471Asp) rs754916024 0.00001
NM_006440.5(TXNRD2):c.1414G>A (p.Glu472Lys) rs766076027 0.00001
NM_006440.5(TXNRD2):c.1417G>A (p.Val473Ile) rs760570314 0.00001
NM_006440.5(TXNRD2):c.1460A>G (p.Tyr487Cys) rs367711380 0.00001
NM_006440.5(TXNRD2):c.1465C>T (p.Gln489Ter) rs759650391 0.00001
NM_006440.5(TXNRD2):c.1480G>A (p.Val494Met) rs762203465 0.00001
NM_006440.5(TXNRD2):c.172+3A>G rs923193498 0.00001
NM_006440.5(TXNRD2):c.172G>A (p.Ala58Thr) rs764378793 0.00001
NM_006440.5(TXNRD2):c.224C>T (p.Pro75Leu) rs888739263 0.00001
NM_006440.5(TXNRD2):c.238T>C (p.Trp80Arg) rs762714876 0.00001
NM_006440.5(TXNRD2):c.338A>G (p.Tyr113Cys) rs905391308 0.00001
NM_006440.5(TXNRD2):c.380A>G (p.Lys127Arg) rs753524446 0.00001
NM_006440.5(TXNRD2):c.395T>C (p.Val132Ala) rs1449070418 0.00001
NM_006440.5(TXNRD2):c.430C>T (p.Arg144Cys) rs749157073 0.00001
NM_006440.5(TXNRD2):c.449G>A (p.Arg150Lys) rs755356370 0.00001
NM_006440.5(TXNRD2):c.450-1G>A rs755703700 0.00001
NM_006440.5(TXNRD2):c.46C>T (p.Arg16Trp) rs777650793 0.00001
NM_006440.5(TXNRD2):c.497C>T (p.Thr166Met) rs553337931 0.00001
NM_006440.5(TXNRD2):c.508G>A (p.Val170Ile) rs574389555 0.00001
NM_006440.5(TXNRD2):c.529A>G (p.Ile177Val) rs373970291 0.00001
NM_006440.5(TXNRD2):c.575C>T (p.Pro192Leu) rs747572047 0.00001
NM_006440.5(TXNRD2):c.587C>T (p.Thr196Met) rs531899091 0.00001
NM_006440.5(TXNRD2):c.589C>G (p.His197Asp) rs762695606 0.00001
NM_006440.5(TXNRD2):c.591C>T (p.His197=) rs543644944 0.00001
NM_006440.5(TXNRD2):c.662+1G>A rs1317400468 0.00001
NM_006440.5(TXNRD2):c.715G>A (p.Gly239Arg) rs978493213 0.00001
NM_006440.5(TXNRD2):c.720T>G (p.Ile240Met) rs1246351128 0.00001
NM_006440.5(TXNRD2):c.746G>A (p.Arg249His) rs760799626 0.00001
NM_006440.5(TXNRD2):c.775C>A (p.Gln259Lys) rs1939470316 0.00001
NM_006440.5(TXNRD2):c.845C>T (p.Ser282Leu) rs368200536 0.00001
NM_006440.5(TXNRD2):c.860T>G (p.Leu287Arg) rs989125451 0.00001
NM_006440.5(TXNRD2):c.88G>T (p.Ala30Ser) rs1315091228 0.00001
NM_006440.5(TXNRD2):c.904G>A (p.Gly302Ser) rs781228620 0.00001
NM_006440.5(TXNRD2):c.905G>A (p.Gly302Asp) rs757519340 0.00001
NM_006440.5(TXNRD2):c.949+3A>G rs770435568 0.00001
NM_006440.5(TXNRD2):c.965C>A (p.Thr322Asn) rs752178604 0.00001
NC_000002.11:g.(?_105977730)_(106002983_?)dup
NC_000010.10:g.(?_21074676)_(21076257_?)dup
NC_000010.11:g.(?_20828510)_(20828654_?)del
NC_000010.11:g.(?_20828520)_(20828644_?)del
NC_000010.11:g.(?_20840719)_(20840869_?)del
NC_000010.11:g.(?_20840729)_(20840859_?)del
NC_000022.10:g.(?_19743473)_(19929346_?)dup
NC_000022.10:g.(?_19862041)_(19930515_?)dup
NC_000022.10:g.(?_19864618)_(19929336_?)dup
NC_000022.10:g.(?_19864628)_(19883124_?)del
NC_000022.10:g.(?_19918553)_(19969614_?)del
NC_000022.10:g.(?_19929214)_(19929336_?)dup
NC_000022.11:g.(?_19877095)_(19941813_?)del
NC_000022.11:g.(?_19911357)_(19911467_?)del
NC_000022.11:g.(?_19911367)_(19911457_?)del
NC_000022.11:g.(?_19931010)_(19941823_?)del
NM_001318895.3(FHL2):c.109G>A (p.Ala37Thr) rs74575749
NM_001318895.3(FHL2):c.10C>A (p.Arg4Ser)
NM_001318895.3(FHL2):c.11G>C (p.Arg4Pro) rs369109946
NM_001318895.3(FHL2):c.121G>T (p.Glu41Ter) rs552625336
NM_001318895.3(FHL2):c.125A>G (p.Glu42Gly) rs1045395933
NM_001318895.3(FHL2):c.128G>A (p.Cys43Tyr) rs745717988
NM_001318895.3(FHL2):c.139A>G (p.Ile47Val) rs1682314685
NM_001318895.3(FHL2):c.142G>A (p.Gly48Ser) rs777846521
NM_001318895.3(FHL2):c.154A>G (p.Lys52Glu)
NM_001318895.3(FHL2):c.157-3C>T rs112533691
NM_001318895.3(FHL2):c.162G>T (p.Leu54Phe)
NM_001318895.3(FHL2):c.183G>T (p.Trp61Cys) rs772913386
NM_001318895.3(FHL2):c.191C>G (p.Ala64Gly) rs533310258
NM_001318895.3(FHL2):c.191C>T (p.Ala64Val)
NM_001318895.3(FHL2):c.208C>G (p.Gln70Glu)
NM_001318895.3(FHL2):c.210G>T (p.Gln70His)
NM_001318895.3(FHL2):c.218A>G (p.Asn73Ser)
NM_001318895.3(FHL2):c.219C>G (p.Asn73Lys) rs1681256120
NM_001318895.3(FHL2):c.235C>G (p.Pro79Ala)
NM_001318895.3(FHL2):c.235_249del (p.Pro79_Lys83del)
NM_001318895.3(FHL2):c.254A>G (p.Asp85Gly)
NM_001318895.3(FHL2):c.269C>T (p.Thr90Ile)
NM_001318895.3(FHL2):c.278A>T (p.Tyr93Phe)
NM_001318895.3(FHL2):c.285C>G (p.Asn95Lys) rs374383740
NM_001318895.3(FHL2):c.293C>T (p.Ser98Leu) rs982423684
NM_001318895.3(FHL2):c.29G>A (p.Cys10Tyr) rs1682328689
NM_001318895.3(FHL2):c.2T>C (p.Met1Thr)
NM_001318895.3(FHL2):c.307G>A (p.Glu103Lys) rs1681246655
NM_001318895.3(FHL2):c.311G>A (p.Cys104Tyr)
NM_001318895.3(FHL2):c.331+6G>A
NM_001318895.3(FHL2):c.337dup (p.Arg113fs) rs2104507065
NM_001318895.3(FHL2):c.338G>A (p.Arg113His) rs752531815
NM_001318895.3(FHL2):c.338G>T (p.Arg113Leu)
NM_001318895.3(FHL2):c.388C>T (p.His130Tyr) rs983602593
NM_001318895.3(FHL2):c.391C>T (p.Arg131Cys) rs397517959
NM_001318895.3(FHL2):c.462T>G (p.Tyr154Ter)
NM_001318895.3(FHL2):c.475G>A (p.Ala159Thr) rs1680725217
NM_001318895.3(FHL2):c.497A>G (p.Lys166Arg) rs2104506293
NM_001318895.3(FHL2):c.4A>G (p.Thr2Ala)
NM_001318895.3(FHL2):c.501+5C>G
NM_001318895.3(FHL2):c.501+6T>C
NM_001318895.3(FHL2):c.502-1G>C rs2104487265
NM_001318895.3(FHL2):c.521T>A (p.Val174Asp) rs144442113
NM_001318895.3(FHL2):c.521T>C (p.Val174Ala) rs144442113
NM_001318895.3(FHL2):c.529C>T (p.Arg177Trp)
NM_001318895.3(FHL2):c.533A>C (p.Glu178Ala) rs1009986435
NM_001318895.3(FHL2):c.533del (p.Glu178fs) rs1680417431
NM_001318895.3(FHL2):c.550G>A (p.Glu184Lys) rs1573274516
NM_001318895.3(FHL2):c.559G>A (p.Val187Met) rs570903247
NM_001318895.3(FHL2):c.559G>T (p.Val187Leu) rs570903247
NM_001318895.3(FHL2):c.566_593del (p.Thr189fs)
NM_001318895.3(FHL2):c.568G>A (p.Ala190Thr) rs1279971079
NM_001318895.3(FHL2):c.56A>G (p.Tyr19Cys)
NM_001318895.3(FHL2):c.56A>T (p.Tyr19Phe)
NM_001318895.3(FHL2):c.574A>G (p.Arg192Gly)
NM_001318895.3(FHL2):c.596G>A (p.Arg199His)
NM_001318895.3(FHL2):c.610G>A (p.Asp204Asn) rs906250700
NM_001318895.3(FHL2):c.62T>A (p.Leu21Gln) rs755805016
NM_001318895.3(FHL2):c.64C>T (p.Arg22Trp)
NM_001318895.3(FHL2):c.655A>C (p.Lys219Gln)
NM_001318895.3(FHL2):c.65G>A (p.Arg22Gln)
NM_001318895.3(FHL2):c.678C>A (p.Asn226Lys) rs137869171
NM_001318895.3(FHL2):c.687C>T (p.Ser229=)
NM_001318895.3(FHL2):c.689-2A>G rs1231396526
NM_001318895.3(FHL2):c.698_699delinsAA (p.Gly233Glu)
NM_001318895.3(FHL2):c.721G>A (p.Glu241Lys) rs1680249986
NM_001318895.3(FHL2):c.729G>C (p.Gln243His)
NM_001318895.3(FHL2):c.731G>A (p.Trp244Ter) rs2104477866
NM_001318895.3(FHL2):c.738C>G (p.Asn246Lys)
NM_001318895.3(FHL2):c.73dup (p.Ser25fs) rs1682322677
NM_001318895.3(FHL2):c.742T>C (p.Cys248Arg) rs2104477768
NM_001318895.3(FHL2):c.74G>A (p.Ser25Asn)
NM_001318895.3(FHL2):c.756G>T (p.Lys252Asn)
NM_001318895.3(FHL2):c.760T>C (p.Cys254Arg)
NM_001318895.3(FHL2):c.794C>G (p.Thr265Arg)
NM_001318895.3(FHL2):c.805G>A (p.Asp269Asn)
NM_001318895.3(FHL2):c.81C>A (p.Tyr27Ter) rs727503060
NM_001318895.3(FHL2):c.82T>C (p.Cys28Arg)
NM_001318895.3(FHL2):c.86T>C (p.Val29Ala)
NM_006393.3(NEBL):c.1004G>T (p.Ser335Ile) rs1842654577
NM_006393.3(NEBL):c.1008+1G>C
NM_006393.3(NEBL):c.1008+5A>T
NM_006393.3(NEBL):c.1009-6A>G
NM_006393.3(NEBL):c.1009-9C>A rs761381479
NM_006393.3(NEBL):c.1009G>T (p.Val337Leu)
NM_006393.3(NEBL):c.1020del (p.Glu341fs) rs2131052910
NM_006393.3(NEBL):c.1021GAA[1] (p.Glu342del)
NM_006393.3(NEBL):c.1028A>G (p.Tyr343Cys) rs876657925
NM_006393.3(NEBL):c.1037del (p.Asn346fs) rs767349615
NM_006393.3(NEBL):c.1039A>G (p.Lys347Glu) rs1842398385
NM_006393.3(NEBL):c.1062T>G (p.Phe354Leu) rs996916612
NM_006393.3(NEBL):c.1076C>T (p.Ser359Leu) rs1842393771
NM_006393.3(NEBL):c.1088C>T (p.Ser363Leu) rs747086170
NM_006393.3(NEBL):c.1104G>C (p.Lys368Asn) rs2131051844
NM_006393.3(NEBL):c.1112G>A (p.Ser371Asn)
NM_006393.3(NEBL):c.1123del (p.Tyr375fs)
NM_006393.3(NEBL):c.1129G>T (p.Glu377Ter)
NM_006393.3(NEBL):c.113G>A (p.Ser38Asn)
NM_006393.3(NEBL):c.116T>C (p.Met39Thr)
NM_006393.3(NEBL):c.1189T>G (p.Phe397Val)
NM_006393.3(NEBL):c.1195C>T (p.His399Tyr)
NM_006393.3(NEBL):c.1197T>G (p.His399Gln) rs903764018
NM_006393.3(NEBL):c.1212C>T (p.Thr404=)
NM_006393.3(NEBL):c.1227+1G>A rs1841789797
NM_006393.3(NEBL):c.1227+5G>C rs370026081
NM_006393.3(NEBL):c.1228-3T>C rs1588750815
NM_006393.3(NEBL):c.1228-4A>T
NM_006393.3(NEBL):c.1234T>C (p.Tyr412His)
NM_006393.3(NEBL):c.1241A>C (p.Lys414Thr)
NM_006393.3(NEBL):c.1243G>A (p.Asp415Asn)
NM_006393.3(NEBL):c.1244A>C (p.Asp415Ala)
NM_006393.3(NEBL):c.1246T>A (p.Leu416Met)
NM_006393.3(NEBL):c.1259T>C (p.Ile420Thr) rs1841346894
NM_006393.3(NEBL):c.1269A>T (p.Lys423Asn) rs138932199
NM_006393.3(NEBL):c.1274T>C (p.Met425Thr)
NM_006393.3(NEBL):c.1300A>C (p.Ile434Leu)
NM_006393.3(NEBL):c.1315C>T (p.Arg439Ter)
NM_006393.3(NEBL):c.1318G>A (p.Ala440Thr)
NM_006393.3(NEBL):c.1322C>G (p.Ser441Cys) rs1841337096
NM_006393.3(NEBL):c.1339-3C>G
NM_006393.3(NEBL):c.135C>T (p.Cys45=) rs757156256
NM_006393.3(NEBL):c.136A>G (p.Thr46Ala) rs751607557
NM_006393.3(NEBL):c.1378A>G (p.Lys460Glu)
NM_006393.3(NEBL):c.1391_1392delinsGG (p.Ala464Gly) rs2130934659
NM_006393.3(NEBL):c.1401C>G (p.Asp467Glu) rs769479569
NM_006393.3(NEBL):c.1414C>T (p.Gln472Ter)
NM_006393.3(NEBL):c.1424A>G (p.Lys475Arg)
NM_006393.3(NEBL):c.1429G>A (p.Ala477Thr)
NM_006393.3(NEBL):c.1431_1437del (p.Ala477_Ala478insTer)
NM_006393.3(NEBL):c.1439T>C (p.Ile480Thr)
NM_006393.3(NEBL):c.1449+12G>A
NM_006393.3(NEBL):c.1457A>G (p.Tyr486Cys)
NM_006393.3(NEBL):c.1466A>T (p.Asp489Val)
NM_006393.3(NEBL):c.1469T>C (p.Leu490Pro) rs1840423988
NM_006393.3(NEBL):c.1473G>T (p.Glu491Asp)
NM_006393.3(NEBL):c.1478A>G (p.Glu493Gly)
NM_006393.3(NEBL):c.1508_1509del (p.Thr503fs)
NM_006393.3(NEBL):c.1510_1513del (p.Asp504fs) rs745728544
NM_006393.3(NEBL):c.151G>A (p.Asp51Asn) rs1269179367
NM_006393.3(NEBL):c.153+1G>A
NM_006393.3(NEBL):c.1549A>T (p.Met517Leu) rs1430856878
NM_006393.3(NEBL):c.1560+2T>C
NM_006393.3(NEBL):c.1563del (p.Lys521fs) rs1840390408
NM_006393.3(NEBL):c.1572del (p.Lys525fs) rs879600856
NM_006393.3(NEBL):c.1584A>C (p.Glu528Asp) rs1840387740
NM_006393.3(NEBL):c.1597G>A (p.Gly533Arg) rs541364544
NM_006393.3(NEBL):c.1604G>A (p.Gly535Glu)
NM_006393.3(NEBL):c.1616G>A (p.Ser539Asn)
NM_006393.3(NEBL):c.1618A>G (p.Met540Val)
NM_006393.3(NEBL):c.161A>G (p.Tyr54Cys)
NM_006393.3(NEBL):c.161A>T (p.Tyr54Phe)
NM_006393.3(NEBL):c.1621G>T (p.Asp541Tyr)
NM_006393.3(NEBL):c.1636C>T (p.Leu546Phe)
NM_006393.3(NEBL):c.1640G>A (p.Arg547Gln) rs747238199
NM_006393.3(NEBL):c.1643C>G (p.Ala548Gly) rs2130907056
NM_006393.3(NEBL):c.1671+4G>A rs528164655
NM_006393.3(NEBL):c.1671+5G>C
NM_006393.3(NEBL):c.1672-3T>C rs1554779376
NM_006393.3(NEBL):c.1672-5T>G
NM_006393.3(NEBL):c.1672A>C (p.Arg558=) rs944343501
NM_006393.3(NEBL):c.1677G>T (p.Lys559Asn) rs1013844942
NM_006393.3(NEBL):c.1691C>T (p.Ala564Val) rs1840109648
NM_006393.3(NEBL):c.1696A>C (p.Lys566Gln) rs1060503680
NM_006393.3(NEBL):c.1722A>G (p.Ile574Met)
NM_006393.3(NEBL):c.1723G>A (p.Ala575Thr)
NM_006393.3(NEBL):c.1732C>T (p.Pro578Ser)
NM_006393.3(NEBL):c.173_174del (p.Glu57_Phe58insTer) rs1846880633
NM_006393.3(NEBL):c.1756A>G (p.Thr586Ala)
NM_006393.3(NEBL):c.1758_1762del (p.Gln587fs) rs758450195
NM_006393.3(NEBL):c.1775C>T (p.Ala592Val) rs146275785
NM_006393.3(NEBL):c.1783T>G (p.Tyr595Asp) rs2130874323
NM_006393.3(NEBL):c.1810G>A (p.Ala604Thr)
NM_006393.3(NEBL):c.1837C>G (p.Arg613Gly)
NM_006393.3(NEBL):c.1859A>G (p.Asn620Ser)
NM_006393.3(NEBL):c.1869+5G>A rs1346776842
NM_006393.3(NEBL):c.1869A>G (p.Ser623=)
NM_006393.3(NEBL):c.1870-1G>T rs112010030
NM_006393.3(NEBL):c.1895A>G (p.His632Arg)
NM_006393.3(NEBL):c.1906A>G (p.Ile636Val) rs1564356559
NM_006393.3(NEBL):c.1916C>T (p.Pro639Leu)
NM_006393.3(NEBL):c.1928del (p.Lys643fs) rs754334553
NM_006393.3(NEBL):c.1933G>A (p.Val645Ile) rs1169892636
NM_006393.3(NEBL):c.1940A>G (p.Glu647Gly)
NM_006393.3(NEBL):c.1943dup (p.Asn648fs)
NM_006393.3(NEBL):c.1948A>G (p.Lys650Glu)
NM_006393.3(NEBL):c.1952A>C (p.Asn651Thr)
NM_006393.3(NEBL):c.1987A>C (p.Lys663Gln) rs751064460
NM_006393.3(NEBL):c.1990G>T (p.Ala664Ser) rs2130827997
NM_006393.3(NEBL):c.2015A>T (p.Glu672Val)
NM_006393.3(NEBL):c.2020G>A (p.Glu674Lys)
NM_006393.3(NEBL):c.2024G>A (p.Arg675Lys) rs1839060822
NM_006393.3(NEBL):c.2032C>T (p.Arg678Ter)
NM_006393.3(NEBL):c.2041_2043dup (p.Glu681_Gln682insGlu)
NM_006393.3(NEBL):c.2050A>C (p.Ser684Arg)
NM_006393.3(NEBL):c.2051G>A (p.Ser684Asn)
NM_006393.3(NEBL):c.2063A>T (p.Tyr688Phe)
NM_006393.3(NEBL):c.2066A>G (p.Lys689Arg) rs1838865198
NM_006393.3(NEBL):c.2110C>G (p.Leu704Val) rs751282061
NM_006393.3(NEBL):c.2122A>C (p.Lys708Gln)
NM_006393.3(NEBL):c.2147A>G (p.Asn716Ser)
NM_006393.3(NEBL):c.2148+2T>A
NM_006393.3(NEBL):c.2149-2A>C rs367588562
NM_006393.3(NEBL):c.2155T>G (p.Tyr719Asp) rs1427758049
NM_006393.3(NEBL):c.2164C>A (p.Gln722Lys) rs1459943747
NM_006393.3(NEBL):c.2177C>A (p.Ala726Asp)
NM_006393.3(NEBL):c.2183C>T (p.Thr728Ile)
NM_006393.3(NEBL):c.2191G>A (p.Val731Ile)
NM_006393.3(NEBL):c.2192dup (p.Thr732fs)
NM_006393.3(NEBL):c.2230A>C (p.Asn744His) rs2130804609
NM_006393.3(NEBL):c.2237G>C (p.Ser746Thr)
NM_006393.3(NEBL):c.2242-1G>A
NM_006393.3(NEBL):c.2252C>T (p.Thr751Ile)
NM_006393.3(NEBL):c.2262_2275del (p.His754fs)
NM_006393.3(NEBL):c.2266C>T (p.Gln756Ter)
NM_006393.3(NEBL):c.2275G>C (p.Gly759Arg)
NM_006393.3(NEBL):c.2287C>G (p.Leu763Val) rs768389033
NM_006393.3(NEBL):c.2313A>T (p.Arg771Ser)
NM_006393.3(NEBL):c.2315A>T (p.His772Leu)
NM_006393.3(NEBL):c.2332A>T (p.Asn778Tyr)
NM_006393.3(NEBL):c.2335C>A (p.His779Asn) rs1438423663
NM_006393.3(NEBL):c.2346+5G>A
NM_006393.3(NEBL):c.2347G>A (p.Val783Ile)
NM_006393.3(NEBL):c.2363A>G (p.Asp788Gly)
NM_006393.3(NEBL):c.2365T>A (p.Phe789Ile) rs1564345984
NM_006393.3(NEBL):c.2391T>G (p.Phe797Leu) rs1060503681
NM_006393.3(NEBL):c.241G>T (p.Gly81Cys) rs369862013
NM_006393.3(NEBL):c.2428A>G (p.Arg810Gly)
NM_006393.3(NEBL):c.242G>A (p.Gly81Asp) rs1442801795
NM_006393.3(NEBL):c.242del (p.Gly81fs)
NM_006393.3(NEBL):c.2446G>A (p.Val816Ile) rs2130787684
NM_006393.3(NEBL):c.2452G>A (p.Asp818Asn)
NM_006393.3(NEBL):c.2465A>T (p.Lys822Ile)
NM_006393.3(NEBL):c.2468G>A (p.Gly823Glu) rs2130787472
NM_006393.3(NEBL):c.2470G>C (p.Val824Leu)
NM_006393.3(NEBL):c.2480A>G (p.His827Arg) rs372763596
NM_006393.3(NEBL):c.2481C>G (p.His827Gln)
NM_006393.3(NEBL):c.2483T>A (p.Ile828Asn) rs2130787312
NM_006393.3(NEBL):c.2499G>T (p.Arg833Ser) rs727505285
NM_006393.3(NEBL):c.2501G>A (p.Arg834Lys)
NM_006393.3(NEBL):c.250A>T (p.Ile84Phe)
NM_006393.3(NEBL):c.2517T>G (p.Val839=)
NM_006393.3(NEBL):c.2519-1G>A
NM_006393.3(NEBL):c.2519-1G>T
NM_006393.3(NEBL):c.2519-2A>G
NM_006393.3(NEBL):c.2519-3A>G rs1396613955
NM_006393.3(NEBL):c.2534G>A (p.Arg845His) rs761052528
NM_006393.3(NEBL):c.2543C>T (p.Pro848Leu) rs1837961214
NM_006393.3(NEBL):c.258+3A>G
NM_006393.3(NEBL):c.259-2A>G
NM_006393.3(NEBL):c.259-7C>G rs201590910
NM_006393.3(NEBL):c.2599C>T (p.His867Tyr)
NM_006393.3(NEBL):c.259G>A (p.Ala87Thr) rs368856187
NM_006393.3(NEBL):c.2612-6A>G rs377317796
NM_006393.3(NEBL):c.2618C>T (p.Ala873Val)
NM_006393.3(NEBL):c.2645G>T (p.Arg882Leu) rs758877499
NM_006393.3(NEBL):c.2653T>C (p.Ser885Pro)
NM_006393.3(NEBL):c.2658C>G (p.Ser886Arg)
NM_006393.3(NEBL):c.2674G>T (p.Gly892Cys)
NM_006393.3(NEBL):c.2683GAC[1] (p.Asp896del) rs1837836867
NM_006393.3(NEBL):c.2686G>A (p.Asp896Asn)
NM_006393.3(NEBL):c.2686dup (p.Asp896fs) rs766320208
NM_006393.3(NEBL):c.2689A>G (p.Arg897Gly) rs2130760889
NM_006393.3(NEBL):c.2699_2700delinsAA (p.Ile900Lys)
NM_006393.3(NEBL):c.2725T>C (p.Cys909Arg)
NM_006393.3(NEBL):c.2726G>A (p.Cys909Tyr)
NM_006393.3(NEBL):c.2734G>A (p.Glu912Lys)
NM_006393.3(NEBL):c.2737G>A (p.Val913Ile) rs1564341986
NM_006393.3(NEBL):c.2740A>T (p.Thr914Ser) rs1369499702
NM_006393.3(NEBL):c.2747C>T (p.Pro916Leu) rs143149169
NM_006393.3(NEBL):c.275C>G (p.Thr92Ser)
NM_006393.3(NEBL):c.2771T>A (p.Leu924His)
NM_006393.3(NEBL):c.2776G>A (p.Gly926Arg)
NM_006393.3(NEBL):c.2777G>C (p.Gly926Ala)
NM_006393.3(NEBL):c.2778A>T (p.Gly926=) rs1835500948
NM_006393.3(NEBL):c.2813A>G (p.Tyr938Cys) rs1024719266
NM_006393.3(NEBL):c.2816T>A (p.Met939Lys)
NM_006393.3(NEBL):c.2830G>A (p.Val944Met)
NM_006393.3(NEBL):c.2833_2841del (p.Ser945_Met947del)
NM_006393.3(NEBL):c.2839A>C (p.Met947Leu)
NM_006393.3(NEBL):c.2849T>C (p.Met950Thr) rs1835493262
NM_006393.3(NEBL):c.284C>G (p.Ala95Gly) rs769868347
NM_006393.3(NEBL):c.2851C>T (p.Gln951Ter) rs2131619034
NM_006393.3(NEBL):c.2864dup (p.Asn955fs) rs2131618949
NM_006393.3(NEBL):c.2890G>A (p.Asp964Asn)
NM_006393.3(NEBL):c.2897G>T (p.Ser966Ile)
NM_006393.3(NEBL):c.28A>G (p.Lys10Glu)
NM_006393.3(NEBL):c.2905G>T (p.Asp969Tyr) rs1588586303
NM_006393.3(NEBL):c.2906A>G (p.Asp969Gly) rs2131613917
NM_006393.3(NEBL):c.2932G>A (p.Gly978Ser) rs1835362564
NM_006393.3(NEBL):c.2935G>A (p.Asp979Asn)
NM_006393.3(NEBL):c.2947A>G (p.Asn983Asp) rs1835360345
NM_006393.3(NEBL):c.2955G>T (p.Gln985His) rs201571938
NM_006393.3(NEBL):c.2965G>A (p.Asp989Asn)
NM_006393.3(NEBL):c.2966A>G (p.Asp989Gly)
NM_006393.3(NEBL):c.297T>G (p.Asn99Lys) rs1363794425
NM_006393.3(NEBL):c.3013C>T (p.Leu1005Phe)
NM_006393.3(NEBL):c.3031G>A (p.Glu1011Lys) rs375208825
NM_006393.3(NEBL):c.3043T>C (p.Ter1015Gln) rs763015983
NM_006393.3(NEBL):c.311G>T (p.Arg104Leu)
NM_006393.3(NEBL):c.344_346del (p.Gly115del) rs773042028
NM_006393.3(NEBL):c.359T>C (p.Leu120Pro)
NM_006393.3(NEBL):c.366T>A (p.Ser122Arg)
NM_006393.3(NEBL):c.369+1G>A
NM_006393.3(NEBL):c.369+4G>A
NM_006393.3(NEBL):c.370-2A>G
NM_006393.3(NEBL):c.373G>A (p.Ala125Thr)
NM_006393.3(NEBL):c.383A>G (p.Gln128Arg) rs139809958
NM_006393.3(NEBL):c.418G>C (p.Ala140Pro) rs2131316427
NM_006393.3(NEBL):c.419C>G (p.Ala140Gly)
NM_006393.3(NEBL):c.434C>T (p.Pro145Leu) rs1845953617
NM_006393.3(NEBL):c.439G>A (p.Glu147Lys)
NM_006393.3(NEBL):c.448C>T (p.His150Tyr)
NM_006393.3(NEBL):c.451G>A (p.Ala151Thr)
NM_006393.3(NEBL):c.454A>G (p.Met152Val)
NM_006393.3(NEBL):c.455T>C (p.Met152Thr)
NM_006393.3(NEBL):c.456G>A (p.Met152Ile) rs1238447316
NM_006393.3(NEBL):c.464A>G (p.Asn155Ser)
NM_006393.3(NEBL):c.479A>G (p.Asn160Ser)
NM_006393.3(NEBL):c.480T>G (p.Asn160Lys)
NM_006393.3(NEBL):c.481-14C>G
NM_006393.3(NEBL):c.496G>C (p.Asp166His) rs780036701
NM_006393.3(NEBL):c.498C>A (p.Asp166Glu) rs371105861
NM_006393.3(NEBL):c.502C>G (p.Gln168Glu)
NM_006393.3(NEBL):c.505_526dup (p.Glu176fs)
NM_006393.3(NEBL):c.509C>T (p.Thr170Ile) rs1564404256
NM_006393.3(NEBL):c.515C>T (p.Thr172Met) rs548438161
NM_006393.3(NEBL):c.53T>C (p.Ile18Thr)
NM_006393.3(NEBL):c.574A>G (p.Ile192Val) rs758465790
NM_006393.3(NEBL):c.58G>A (p.Glu20Lys) rs2131413901
NM_006393.3(NEBL):c.590A>G (p.Tyr197Cys)
NM_006393.3(NEBL):c.614A>G (p.Asn205Ser) rs794729077
NM_006393.3(NEBL):c.641C>T (p.Pro214Leu)
NM_006393.3(NEBL):c.647T>C (p.Phe216Ser)
NM_006393.3(NEBL):c.652C>T (p.His218Tyr)
NM_006393.3(NEBL):c.658G>A (p.Val220Met) rs571563897
NM_006393.3(NEBL):c.658G>T (p.Val220Leu) rs571563897
NM_006393.3(NEBL):c.65A>G (p.Glu22Gly)
NM_006393.3(NEBL):c.67_72del (p.Asn23_Glu24del) rs778962398
NM_006393.3(NEBL):c.687T>G (p.Ile229Met) rs768661641
NM_006393.3(NEBL):c.692A>T (p.Tyr231Phe) rs920640841
NM_006393.3(NEBL):c.700A>G (p.Lys234Glu) rs568662113
NM_006393.3(NEBL):c.709A>G (p.Asn237Asp) rs1588846853
NM_006393.3(NEBL):c.722A>T (p.Asp241Val)
NM_006393.3(NEBL):c.72AGA[1] (p.Glu25del) rs794729080
NM_006393.3(NEBL):c.732T>A (p.His244Gln) rs1843479030
NM_006393.3(NEBL):c.738C>G (p.Tyr246Ter) rs778455217
NM_006393.3(NEBL):c.755C>T (p.Ala252Val) rs2131146354
NM_006393.3(NEBL):c.765_766delinsAA (p.Gln256Lys) rs1843470481
NM_006393.3(NEBL):c.773A>G (p.Gln258Arg) rs924565857
NM_006393.3(NEBL):c.791C>T (p.Ala264Val) rs548922223
NM_006393.3(NEBL):c.801G>T (p.Val267=)
NM_006393.3(NEBL):c.814G>C (p.Asp272His)
NM_006393.3(NEBL):c.826A>G (p.Met276Val) rs1373986579
NM_006393.3(NEBL):c.828G>A (p.Met276Ile)
NM_006393.3(NEBL):c.838G>A (p.Val280Ile)
NM_006393.3(NEBL):c.853A>G (p.Asn285Asp) rs1843299381
NM_006393.3(NEBL):c.858G>C (p.Leu286Phe)
NM_006393.3(NEBL):c.858G>T (p.Leu286Phe) rs765274802
NM_006393.3(NEBL):c.858GTT[1] (p.Leu287del) rs757466908
NM_006393.3(NEBL):c.863T>C (p.Phe288Ser)
NM_006393.3(NEBL):c.903+1G>A rs775057540
NM_006393.3(NEBL):c.903+2del rs1588839902
NM_006393.3(NEBL):c.903+4dup rs1564391383
NM_006393.3(NEBL):c.905G>A (p.Arg302Gln)
NM_006393.3(NEBL):c.940A>G (p.Met314Val)
NM_006393.3(NEBL):c.942G>A (p.Met314Ile)
NM_006393.3(NEBL):c.959A>G (p.Asp320Gly)
NM_006393.3(NEBL):c.962C>T (p.Ala321Val) rs1842659148
NM_006393.3(NEBL):c.976C>T (p.His326Tyr) rs1232048555
NM_006393.3(NEBL):c.980A>G (p.His327Arg)
NM_006440.5(TXNRD2):c.1009G>A (p.Asp337Asn)
NM_006440.5(TXNRD2):c.1011C>A (p.Asp337Glu) rs1569073275
NM_006440.5(TXNRD2):c.1032C>A (p.Asp344Glu)
NM_006440.5(TXNRD2):c.103G>C (p.Ala35Pro)
NM_006440.5(TXNRD2):c.104-14A>T
NM_006440.5(TXNRD2):c.104-1G>A rs781473800
NM_006440.5(TXNRD2):c.1058A>C (p.His353Pro) rs1307604976
NM_006440.5(TXNRD2):c.1058A>G (p.His353Arg) rs1307604976
NM_006440.5(TXNRD2):c.1066G>A (p.Ala356Thr) rs576244023
NM_006440.5(TXNRD2):c.1070T>C (p.Ile357Thr)
NM_006440.5(TXNRD2):c.1078G>C (p.Val360Leu)
NM_006440.5(TXNRD2):c.1091G>T (p.Arg364Leu) rs199734322
NM_006440.5(TXNRD2):c.1106C>A (p.Pro369His) rs1489194482
NM_006440.5(TXNRD2):c.1117A>G (p.Met373Val) rs2145933186
NM_006440.5(TXNRD2):c.1118T>C (p.Met373Thr) rs1938732295
NM_006440.5(TXNRD2):c.1123G>C (p.Gly375Arg) rs757239766
NM_006440.5(TXNRD2):c.1124G>T (p.Gly375Val)
NM_006440.5(TXNRD2):c.1142G>A (p.Arg381Gln) rs774909194
NM_006440.5(TXNRD2):c.1150G>C (p.Gly384Arg) rs192869629
NM_006440.5(TXNRD2):c.1153G>A (p.Gly385Arg) rs528059873
NM_006440.5(TXNRD2):c.1154G>C (p.Gly385Ala) rs1938727490
NM_006440.5(TXNRD2):c.1178A>G (p.Asp393Gly) rs2145932871
NM_006440.5(TXNRD2):c.1180A>G (p.Asn394Asp)
NM_006440.5(TXNRD2):c.1182T>C (p.Asn394=) rs1938724361
NM_006440.5(TXNRD2):c.1183-10_1183-7del rs1569070709
NM_006440.5(TXNRD2):c.1183-4T>C
NM_006440.5(TXNRD2):c.11T>C (p.Met4Thr) rs1429174414
NM_006440.5(TXNRD2):c.1205C>T (p.Pro402Leu)
NM_006440.5(TXNRD2):c.1252C>T (p.Arg418Cys)
NM_006440.5(TXNRD2):c.1253G>A (p.Arg418His) rs1388670551
NM_006440.5(TXNRD2):c.1258G>A (p.Gly420Arg)
NM_006440.5(TXNRD2):c.1262A>G (p.Gln421Arg)
NM_006440.5(TXNRD2):c.1266G>C (p.Glu422Asp) rs1569070557
NM_006440.5(TXNRD2):c.1275+6G>A
NM_006440.5(TXNRD2):c.1276-1G>A rs2145927925
NM_006440.5(TXNRD2):c.1280A>G (p.Tyr427Cys) rs1938608628
NM_006440.5(TXNRD2):c.1301T>C (p.Leu434Pro) rs2145927851
NM_006440.5(TXNRD2):c.1310C>T (p.Thr437Met)
NM_006440.5(TXNRD2):c.1334A>G (p.Gln445Arg) rs1938606140
NM_006440.5(TXNRD2):c.136G>A (p.Gly46Ser)
NM_006440.5(TXNRD2):c.1370dup (p.Gln458fs) rs758790391
NM_006440.5(TXNRD2):c.1378G>A (p.Val460Met) rs770442788
NM_006440.5(TXNRD2):c.1407C>G (p.Asn469Lys) rs200063300
NM_006440.5(TXNRD2):c.1420A>G (p.Thr474Ala)
NM_006440.5(TXNRD2):c.1445+7C>A
NM_006440.5(TXNRD2):c.1445A>C (p.Lys482Thr) rs763072970
NM_006440.5(TXNRD2):c.1451G>A (p.Gly484Glu) rs1409074647
NM_006440.5(TXNRD2):c.1460A>C (p.Tyr487Ser)
NM_006440.5(TXNRD2):c.1471A>G (p.Met491Val)
NM_006440.5(TXNRD2):c.1478C>T (p.Thr493Ile)
NM_006440.5(TXNRD2):c.1484G>T (p.Gly495Val)
NM_006440.5(TXNRD2):c.1492C>T (p.Pro498Ser) rs1569068105
NM_006440.5(TXNRD2):c.1499_1500delinsAA (p.Cys500Ter)
NM_006440.5(TXNRD2):c.14C>G (p.Ala5Gly)
NM_006440.5(TXNRD2):c.14C>T (p.Ala5Val) rs775392322
NM_006440.5(TXNRD2):c.1514T>C (p.Val505Ala) rs759613137
NM_006440.5(TXNRD2):c.1522C>G (p.Arg508Gly) rs368176907
NM_006440.5(TXNRD2):c.1546G>C (p.Asp516His) rs1221993025
NM_006440.5(TXNRD2):c.1553C>T (p.Thr518Met)
NM_006440.5(TXNRD2):c.1575A>C (p.Ter525Tyr)
NM_006440.5(TXNRD2):c.177_178delinsTT (p.Gln60Ter) rs1940808459
NM_006440.5(TXNRD2):c.187A>G (p.Arg63Gly) rs2146049658
NM_006440.5(TXNRD2):c.1A>G (p.Met1Val)
NM_006440.5(TXNRD2):c.205G>T (p.Asp69Tyr) rs768403549
NM_006440.5(TXNRD2):c.20C>G (p.Ala7Gly)
NM_006440.5(TXNRD2):c.211G>A (p.Val71Met)
NM_006440.5(TXNRD2):c.230-2A>G
NM_006440.5(TXNRD2):c.236G>T (p.Arg79Leu) rs373979810
NM_006440.5(TXNRD2):c.247G>A (p.Gly83Ser)
NM_006440.5(TXNRD2):c.26G>C (p.Arg9Pro)
NM_006440.5(TXNRD2):c.284A>G (p.Lys95Arg)
NM_006440.5(TXNRD2):c.299C>A (p.Ala100Glu) rs767878935
NM_006440.5(TXNRD2):c.299C>T (p.Ala100Val)
NM_006440.5(TXNRD2):c.29G>C (p.Gly10Ala) rs1159919237
NM_006440.5(TXNRD2):c.313G>A (p.Gly105Ser) rs1429132177
NM_006440.5(TXNRD2):c.335A>G (p.Asn112Ser)
NM_006440.5(TXNRD2):c.335A>T (p.Asn112Ile) rs758941896
NM_006440.5(TXNRD2):c.337T>C (p.Tyr113His) rs869025560
NM_006440.5(TXNRD2):c.364C>A (p.Pro122Thr)
NM_006440.5(TXNRD2):c.364C>T (p.Pro122Ser) rs1432720365
NM_006440.5(TXNRD2):c.365C>T (p.Pro122Leu)
NM_006440.5(TXNRD2):c.382A>T (p.Met128Leu) rs1940724639
NM_006440.5(TXNRD2):c.385G>A (p.Ala129Thr)
NM_006440.5(TXNRD2):c.392C>G (p.Ala131Gly) rs368359642
NM_006440.5(TXNRD2):c.392C>T (p.Ala131Val) rs368359642
NM_006440.5(TXNRD2):c.403del (p.His135fs) rs1940723314
NM_006440.5(TXNRD2):c.406G>A (p.Val136Met) rs749100112
NM_006440.5(TXNRD2):c.413C>T (p.Ser138Phe)
NM_006440.5(TXNRD2):c.41_42delinsTT (p.Arg14Leu) rs2146120283
NM_006440.5(TXNRD2):c.428A>G (p.His143Arg)
NM_006440.5(TXNRD2):c.431G>A (p.Arg144His) rs748674090
NM_006440.5(TXNRD2):c.431G>C (p.Arg144Pro) rs748674090
NM_006440.5(TXNRD2):c.431G>T (p.Arg144Leu)
NM_006440.5(TXNRD2):c.43T>A (p.Phe15Ile)
NM_006440.5(TXNRD2):c.449+2T>G
NM_006440.5(TXNRD2):c.449+3A>G rs754205571
NM_006440.5(TXNRD2):c.450-2A>G
NM_006440.5(TXNRD2):c.462C>G (p.Tyr154Ter) rs182857388
NM_006440.5(TXNRD2):c.479G>A (p.Ser160Asn) rs1255947483
NM_006440.5(TXNRD2):c.51G>C (p.Trp17Cys) rs2146120227
NM_006440.5(TXNRD2):c.528+2T>C rs775856560
NM_006440.5(TXNRD2):c.529-3_529-2del
NM_006440.5(TXNRD2):c.52C>T (p.Arg18Trp) rs1060501404
NM_006440.5(TXNRD2):c.553A>G (p.Ile185Val)
NM_006440.5(TXNRD2):c.56C>T (p.Thr19Met)
NM_006440.5(TXNRD2):c.58C>T (p.Gln20Ter)
NM_006440.5(TXNRD2):c.591+1G>A rs200610775
NM_006440.5(TXNRD2):c.591+4_591+5del
NM_006440.5(TXNRD2):c.592-2_602del
NM_006440.5(TXNRD2):c.593T>C (p.Ile198Thr)
NM_006440.5(TXNRD2):c.599G>A (p.Gly200Asp) rs112854076
NM_006440.5(TXNRD2):c.59A>T (p.Gln20Leu)
NM_006440.5(TXNRD2):c.631A>G (p.Ile211Val)
NM_006440.5(TXNRD2):c.64G>A (p.Val22Met) rs370819229
NM_006440.5(TXNRD2):c.64G>T (p.Val22Leu) rs370819229
NM_006440.5(TXNRD2):c.650C>T (p.Ser217Phe)
NM_006440.5(TXNRD2):c.655G>C (p.Gly219Arg) rs1940404247
NM_006440.5(TXNRD2):c.662+6G>A rs887858049
NM_006440.5(TXNRD2):c.663-3C>T rs778588418
NM_006440.5(TXNRD2):c.670G>T (p.Val224Phe)
NM_006440.5(TXNRD2):c.677C>T (p.Ala226Val)
NM_006440.5(TXNRD2):c.682+5C>G
NM_006440.5(TXNRD2):c.682+6C>A
NM_006440.5(TXNRD2):c.692T>C (p.Leu231Pro)
NM_006440.5(TXNRD2):c.704G>C (p.Gly235Ala) rs1259831281
NM_006440.5(TXNRD2):c.70_76dup (p.Val26fs)
NM_006440.5(TXNRD2):c.722G>A (p.Gly241Glu)
NM_006440.5(TXNRD2):c.737T>C (p.Ile246Thr)
NM_006440.5(TXNRD2):c.751A>G (p.Ile251Val)
NM_006440.5(TXNRD2):c.754C>G (p.Pro252Ala)
NM_006440.5(TXNRD2):c.769G>A (p.Asp257Asn)
NM_006440.5(TXNRD2):c.774+6G>T
NM_006440.5(TXNRD2):c.775-1G>A rs2145970512
NM_006440.5(TXNRD2):c.77T>C (p.Val26Ala) rs925920723
NM_006440.5(TXNRD2):c.77_83dup (p.Ala30fs) rs1162449700
NM_006440.5(TXNRD2):c.789G>A (p.Met263Ile) rs1939469611
NM_006440.5(TXNRD2):c.812A>G (p.His271Arg)
NM_006440.5(TXNRD2):c.839C>T (p.Ala280Val) rs2145970224
NM_006440.5(TXNRD2):c.83G>T (p.Gly28Val)
NM_006440.5(TXNRD2):c.848G>A (p.Arg283Gln)
NM_006440.5(TXNRD2):c.87_98del (p.27RGAA[1]) rs766448975
NM_006440.5(TXNRD2):c.87_98dup (p.27RGAA[3]) rs766448975
NM_006440.5(TXNRD2):c.8C>T (p.Ala3Val)
NM_006440.5(TXNRD2):c.90_101dup (p.27_30RGAA[3]) rs1008629337
NM_006440.5(TXNRD2):c.917C>G (p.Thr306Arg)
NM_006440.5(TXNRD2):c.92G>C (p.Arg31Pro)
NM_006440.5(TXNRD2):c.934G>A (p.Val312Ile)
NM_006440.5(TXNRD2):c.955G>A (p.Val319Ile)
NM_006440.5(TXNRD2):c.958C>T (p.Pro320Ser) rs1938879786
NM_006440.5(TXNRD2):c.965C>G (p.Thr322Ser) rs752178604
NM_006440.5(TXNRD2):c.967A>G (p.Arg323Gly)
NM_006440.5(TXNRD2):c.974T>C (p.Leu325Pro) rs759476139
NM_213569.2(NEBL):c.358-4751_358-4740del rs2130816665

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.