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)
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rs1940723314
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NM_006440.5(TXNRD2):c.406G>A (p.Val136Met)
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rs749100112
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NM_006440.5(TXNRD2):c.413C>T (p.Ser138Phe)
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NM_006440.5(TXNRD2):c.41_42delinsTT (p.Arg14Leu)
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rs2146120283
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NM_006440.5(TXNRD2):c.428A>G (p.His143Arg)
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NM_006440.5(TXNRD2):c.431G>A (p.Arg144His)
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rs748674090
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NM_006440.5(TXNRD2):c.431G>C (p.Arg144Pro)
|
rs748674090
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NM_006440.5(TXNRD2):c.431G>T (p.Arg144Leu)
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NM_006440.5(TXNRD2):c.43T>A (p.Phe15Ile)
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NM_006440.5(TXNRD2):c.449+2T>G
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NM_006440.5(TXNRD2):c.449+3A>G
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rs754205571
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NM_006440.5(TXNRD2):c.450-2A>G
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NM_006440.5(TXNRD2):c.462C>G (p.Tyr154Ter)
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rs182857388
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NM_006440.5(TXNRD2):c.479G>A (p.Ser160Asn)
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rs1255947483
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NM_006440.5(TXNRD2):c.51G>C (p.Trp17Cys)
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rs2146120227
|
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NM_006440.5(TXNRD2):c.528+2T>C
|
rs775856560
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NM_006440.5(TXNRD2):c.529-3_529-2del
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NM_006440.5(TXNRD2):c.52C>T (p.Arg18Trp)
|
rs1060501404
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NM_006440.5(TXNRD2):c.553A>G (p.Ile185Val)
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NM_006440.5(TXNRD2):c.56C>T (p.Thr19Met)
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NM_006440.5(TXNRD2):c.58C>T (p.Gln20Ter)
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NM_006440.5(TXNRD2):c.591+1G>A
|
rs200610775
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NM_006440.5(TXNRD2):c.591+4_591+5del
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NM_006440.5(TXNRD2):c.592-2_602del
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NM_006440.5(TXNRD2):c.593T>C (p.Ile198Thr)
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NM_006440.5(TXNRD2):c.599G>A (p.Gly200Asp)
|
rs112854076
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NM_006440.5(TXNRD2):c.59A>T (p.Gln20Leu)
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NM_006440.5(TXNRD2):c.631A>G (p.Ile211Val)
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NM_006440.5(TXNRD2):c.64G>A (p.Val22Met)
|
rs370819229
|
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NM_006440.5(TXNRD2):c.64G>T (p.Val22Leu)
|
rs370819229
|
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NM_006440.5(TXNRD2):c.650C>T (p.Ser217Phe)
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NM_006440.5(TXNRD2):c.655G>C (p.Gly219Arg)
|
rs1940404247
|
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NM_006440.5(TXNRD2):c.662+6G>A
|
rs887858049
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NM_006440.5(TXNRD2):c.663-3C>T
|
rs778588418
|
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NM_006440.5(TXNRD2):c.670G>T (p.Val224Phe)
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NM_006440.5(TXNRD2):c.677C>T (p.Ala226Val)
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NM_006440.5(TXNRD2):c.682+5C>G
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NM_006440.5(TXNRD2):c.682+6C>A
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NM_006440.5(TXNRD2):c.692T>C (p.Leu231Pro)
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NM_006440.5(TXNRD2):c.704G>C (p.Gly235Ala)
|
rs1259831281
|
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NM_006440.5(TXNRD2):c.70_76dup (p.Val26fs)
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NM_006440.5(TXNRD2):c.722G>A (p.Gly241Glu)
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NM_006440.5(TXNRD2):c.737T>C (p.Ile246Thr)
|
|
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NM_006440.5(TXNRD2):c.751A>G (p.Ile251Val)
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NM_006440.5(TXNRD2):c.754C>G (p.Pro252Ala)
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NM_006440.5(TXNRD2):c.769G>A (p.Asp257Asn)
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NM_006440.5(TXNRD2):c.774+6G>T
|
|
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NM_006440.5(TXNRD2):c.775-1G>A
|
rs2145970512
|
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NM_006440.5(TXNRD2):c.77T>C (p.Val26Ala)
|
rs925920723
|
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NM_006440.5(TXNRD2):c.77_83dup (p.Ala30fs)
|
rs1162449700
|
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NM_006440.5(TXNRD2):c.789G>A (p.Met263Ile)
|
rs1939469611
|
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NM_006440.5(TXNRD2):c.812A>G (p.His271Arg)
|
|
|
NM_006440.5(TXNRD2):c.839C>T (p.Ala280Val)
|
rs2145970224
|
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NM_006440.5(TXNRD2):c.83G>T (p.Gly28Val)
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|
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NM_006440.5(TXNRD2):c.848G>A (p.Arg283Gln)
|
|
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NM_006440.5(TXNRD2):c.87_98del (p.27RGAA[1])
|
rs766448975
|
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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
|
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NM_006440.5(TXNRD2):c.917C>G (p.Thr306Arg)
|
|
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NM_006440.5(TXNRD2):c.92G>C (p.Arg31Pro)
|
|
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NM_006440.5(TXNRD2):c.934G>A (p.Val312Ile)
|
|
|
NM_006440.5(TXNRD2):c.955G>A (p.Val319Ile)
|
|
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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)
|
|
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NM_006440.5(TXNRD2):c.974T>C (p.Leu325Pro)
|
rs759476139
|
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NM_213569.2(NEBL):c.358-4751_358-4740del
|
rs2130816665
|
|