NM_022437.3(ABCG8):c.1411+90del
|
rs10709506
|
0.88215
|
NM_022437.3(ABCG8):c.322+431T>C
|
rs6544713
|
0.75351
|
NM_022437.3(ABCG8):c.1412-152A>G
|
rs4953027
|
0.74128
|
NM_022437.3(ABCG8):c.1412-8C>T
|
rs28517482
|
0.65816
|
NM_022437.3(ABCG8):c.561+43T>C
|
rs4148214
|
0.60441
|
NM_022437.3(ABCG8):c.1488+205G>A
|
rs4953028
|
0.53934
|
NM_022437.3(ABCG8):c.965-260T>C
|
rs3795860
|
0.43216
|
NM_022437.3(ABCG8):c.64-7C>T
|
rs4148210
|
0.41875
|
NM_022437.3(ABCG8):c.161A>G (p.Tyr54Cys)
|
rs4148211
|
0.34608
|
NM_022437.3(ABCG8):c.64-21C>A
|
rs4148209
|
0.34551
|
NM_022437.3(ABCG8):c.1211+137G>A
|
rs4148218
|
0.22450
|
NM_022437.3(ABCG8):c.1489-50T>C
|
rs4148220
|
0.20038
|
NM_022437.3(ABCG8):c.1695C>T (p.Ala565=)
|
rs4148221
|
0.16563
|
NM_022437.3(ABCG8):c.964+317A>G
|
rs6709904
|
0.15809
|
NM_022437.3(ABCG8):c.1212-77T>C
|
rs4245794
|
0.12594
|
NM_022437.3(ABCG8):c.562-183C>A
|
rs72875462
|
0.09512
|
NM_022437.3(ABCG8):c.1212-55G>A
|
rs4245795
|
0.09482
|
NM_022437.3(ABCG8):c.1411+104A>G
|
rs34198326
|
0.09420
|
NM_022437.3(ABCG8):c.322+206T>C
|
rs41360247
|
0.07964
|
NM_022437.3(ABCG8):c.453G>A (p.Val151=)
|
rs56132765
|
0.06877
|
NM_022437.3(ABCG8):c.1488+262T>C
|
rs17031742
|
0.05805
|
NM_022437.3(ABCG8):c.1489-88T>C
|
rs55924588
|
0.05476
|
NM_022437.3(ABCG8):c.64-294T>A
|
rs17031713
|
0.05455
|
NM_022437.3(ABCG8):c.965-58A>G
|
rs55741639
|
0.05402
|
NM_022437.3(ABCG8):c.562-92G>A
|
rs56260466
|
0.05318
|
NM_022437.3(ABCG8):c.1211+189G>A
|
rs41281461
|
0.05301
|
NM_022437.3(ABCG8):c.964+303C>T
|
rs72796748
|
0.04985
|
NM_022437.3(ABCG8):c.694+46C>T
|
rs9282572
|
0.04916
|
NM_022437.3(ABCG8):c.1489-321G>A
|
rs4148219
|
0.04755
|
NM_022437.3(ABCG8):c.675G>A (p.Val225=)
|
rs9282575
|
0.04664
|
NM_022437.3(ABCG8):c.166-209T>C
|
rs17039142
|
0.02517
|
NM_022437.3(ABCG8):c.239G>A (p.Cys80Tyr)
|
rs80025980
|
0.02513
|
NM_022437.3(ABCG8):c.166-141G>A
|
rs75396867
|
0.02504
|
NM_022437.3(ABCG8):c.1488+121C>T
|
rs76814535
|
0.01903
|
NM_022437.3(ABCG8):c.1756+22T>C
|
rs116374521
|
0.01860
|
NM_022437.3(ABCG8):c.964+178G>A
|
rs114197606
|
0.01500
|
NM_022437.3(ABCG8):c.165+13C>T
|
rs75365565
|
0.01403
|
NM_022437.3(ABCG8):c.628G>A (p.Val210Met)
|
rs9282574
|
0.01336
|
NM_022437.3(ABCG8):c.1489-246G>A
|
rs74713051
|
0.01255
|
NM_022437.3(ABCG8):c.1412-174A>G
|
rs6732359
|
0.01214
|
NM_022437.3(ABCG8):c.64-113A>G
|
rs113648443
|
0.01208
|
NM_022437.3(ABCG8):c.1488+46G>A
|
rs117574001
|
0.01174
|
NM_022437.3(ABCG8):c.323-324C>G
|
rs144551004
|
0.00943
|
NM_022437.3(ABCG8):c.94A>G (p.Ser32Gly)
|
rs148370122
|
0.00892
|
NM_022437.3(ABCG8):c.1212-167C>G
|
rs111949421
|
0.00890
|
NM_022437.3(ABCG8):c.165+41G>A
|
rs55726838
|
0.00830
|
NM_022437.3(ABCG8):c.1211+42C>G
|
rs115515507
|
0.00814
|
NM_022437.3(ABCG8):c.1128-32C>T
|
rs111740641
|
0.00811
|
NM_022437.3(ABCG8):c.964+46C>T
|
rs187434446
|
0.00680
|
NM_022437.3(ABCG8):c.1365C>T (p.Ile455=)
|
rs115227860
|
0.00675
|
NM_022437.3(ABCG8):c.154C>G (p.Leu52Val)
|
rs142250628
|
0.00624
|
NM_022437.3(ABCG8):c.1963A>G (p.Met655Val)
|
rs9282573
|
0.00542
|
NM_022437.3(ABCG8):c.1488+45T>C
|
rs59450458
|
0.00514
|
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=)
|
rs145756111
|
0.00437
|
NM_022437.3(ABCG8):c.1716C>T (p.Leu572=)
|
rs116046586
|
0.00382
|
NM_022437.3(ABCG8):c.1782C>T (p.Ser594=)
|
rs139835626
|
0.00382
|
NM_022437.3(ABCG8):c.165+72A>T
|
rs562598492
|
0.00259
|
NM_022437.3(ABCG8):c.491G>A (p.Arg164Gln)
|
rs74358901
|
0.00232
|
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser)
|
rs144200355
|
0.00179
|
NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met)
|
rs140778634
|
0.00158
|
NM_022437.3(ABCG8):c.1170G>A (p.Thr390=)
|
rs139902223
|
0.00158
|
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=)
|
rs139677898
|
0.00123
|
NM_022437.3(ABCG8):c.1645G>A (p.Ala549Thr)
|
rs140690030
|
0.00103
|
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter)
|
rs137852987
|
0.00102
|
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys)
|
rs34754243
|
0.00100
|
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr)
|
rs113005049
|
0.00096
|
NM_022437.3(ABCG8):c.1941C>G (p.Val647=)
|
rs147991100
|
0.00094
|
NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala)
|
rs114404835
|
0.00093
|
NM_022437.3(ABCG8):c.1656G>A (p.Leu552=)
|
rs145341486
|
0.00092
|
NM_022437.3(ABCG8):c.1411+8T>A
|
rs201991639
|
0.00078
|
NM_022437.3(ABCG8):c.561+14C>T
|
rs201961945
|
0.00070
|
NM_022437.3(ABCG8):c.576C>T (p.Ile192=)
|
rs148058949
|
0.00060
|
NM_022437.3(ABCG8):c.1416C>T (p.Tyr472=)
|
rs144399404
|
0.00051
|
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=)
|
rs147582834
|
0.00051
|
NM_022437.3(ABCG8):c.1225A>G (p.Asn409Asp)
|
rs140373311
|
0.00044
|
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn)
|
rs148456883
|
0.00043
|
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu)
|
rs150654176
|
0.00036
|
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys)
|
rs150890296
|
0.00036
|
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=)
|
rs146046068
|
0.00036
|
NM_022437.3(ABCG8):c.729C>T (p.Leu243=)
|
rs145482605
|
0.00035
|
NM_022437.3(ABCG8):c.1226A>G (p.Asn409Ser)
|
rs150977210
|
0.00026
|
NM_022437.3(ABCG8):c.888G>T (p.Ala296=)
|
rs143182625
|
0.00026
|
NM_022437.3(ABCG8):c.1648G>A (p.Ala550Thr)
|
rs149441561
|
0.00023
|
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg)
|
rs137852988
|
0.00022
|
NM_022437.3(ABCG8):c.322+6G>A
|
rs181319879
|
0.00022
|
NM_022437.3(ABCG8):c.1629G>T (p.Arg543Ser)
|
rs201690654
|
0.00019
|
NM_022437.3(ABCG8):c.1753A>T (p.Thr585Ser)
|
rs371166792
|
0.00019
|
NM_022437.3(ABCG8):c.1486A>G (p.Lys496Glu)
|
rs762225826
|
0.00016
|
NM_022437.3(ABCG8):c.384G>A (p.Lys128=)
|
rs764690028
|
0.00016
|
NM_022437.3(ABCG8):c.1845G>C (p.Met615Ile)
|
rs371711306
|
0.00015
|
NM_022437.3(ABCG8):c.342G>A (p.Leu114=)
|
rs150970273
|
0.00015
|
NM_022437.3(ABCG8):c.1115C>A (p.Thr372Asn)
|
rs756606650
|
0.00013
|
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter)
|
rs137852991
|
0.00013
|
NM_022437.3(ABCG8):c.275G>A (p.Ser92Asn)
|
rs372921526
|
0.00013
|
NM_022437.3(ABCG8):c.578C>T (p.Ala193Val)
|
rs376362072
|
0.00012
|
NM_022437.3(ABCG8):c.1212-7T>A
|
rs759300542
|
0.00011
|
NM_022437.3(ABCG8):c.1549T>C (p.Trp517Arg)
|
rs142165666
|
0.00011
|
NM_022437.3(ABCG8):c.1647C>T (p.Ala549=)
|
rs369736263
|
0.00011
|
NM_022437.3(ABCG8):c.546C>T (p.Ala182=)
|
rs774395087
|
0.00011
|
NM_022437.3(ABCG8):c.1763C>A (p.Ala588Glu)
|
rs377433853
|
0.00009
|
NM_022437.3(ABCG8):c.551G>A (p.Arg184His)
|
rs766212636
|
0.00009
|
NM_022437.3(ABCG8):c.870C>T (p.Thr290=)
|
rs117221284
|
0.00009
|
NM_022437.3(ABCG8):c.1200G>A (p.Thr400=)
|
rs369131115
|
0.00008
|
NM_022437.3(ABCG8):c.1386C>T (p.Asn462=)
|
rs371163697
|
0.00008
|
NM_022437.3(ABCG8):c.1650G>A (p.Ala550=)
|
rs145754381
|
0.00008
|
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter)
|
rs137852989
|
0.00008
|
NM_022437.3(ABCG8):c.220C>G (p.Pro74Ala)
|
rs373610655
|
0.00008
|
NM_022437.3(ABCG8):c.370G>A (p.Gly124Ser)
|
rs143276716
|
0.00008
|
NM_022437.3(ABCG8):c.694+5G>C
|
rs557890655
|
0.00008
|
NM_022437.3(ABCG8):c.351G>A (p.Val117=)
|
rs41281459
|
0.00007
|
NM_022437.3(ABCG8):c.450C>T (p.His150=)
|
rs200013237
|
0.00007
|
NM_022437.3(ABCG8):c.586C>T (p.Arg196Trp)
|
rs200433692
|
0.00007
|
NM_022437.3(ABCG8):c.1353C>T (p.Leu451=)
|
rs373560827
|
0.00006
|
NM_022437.3(ABCG8):c.1715T>C (p.Leu572Pro)
|
rs769576789
|
0.00006
|
NM_022437.3(ABCG8):c.1736A>T (p.Asn579Ile)
|
rs767847167
|
0.00006
|
NM_022437.3(ABCG8):c.1752G>C (p.Trp584Cys)
|
rs754182905
|
0.00006
|
NM_022437.3(ABCG8):c.1754C>T (p.Thr585Ile)
|
rs1186922426
|
0.00006
|
NM_022437.3(ABCG8):c.1837T>C (p.Tyr613His)
|
rs189249032
|
0.00006
|
NM_022437.3(ABCG8):c.1869G>T (p.Ala623=)
|
rs775757593
|
0.00006
|
NM_022437.3(ABCG8):c.2013A>G (p.Gln671=)
|
rs373862876
|
0.00006
|
NM_022437.3(ABCG8):c.611G>A (p.Arg204His)
|
rs144730815
|
0.00006
|
NM_022437.3(ABCG8):c.76A>G (p.Arg26Gly)
|
rs138925418
|
0.00006
|
NM_022437.3(ABCG8):c.788G>A (p.Arg263Gln)
|
rs137852990
|
0.00006
|
NM_022437.3(ABCG8):c.64-14C>T
|
rs373055005
|
0.00005
|
NM_022437.3(ABCG8):c.1106A>T (p.Asp369Val)
|
rs148185316
|
0.00004
|
NM_022437.3(ABCG8):c.1269G>T (p.Glu423Asp)
|
rs762861929
|
0.00004
|
NM_022437.3(ABCG8):c.1411+1G>T
|
rs774129955
|
0.00004
|
NM_022437.3(ABCG8):c.331A>C (p.Arg111=)
|
rs752358589
|
0.00004
|
NM_022437.3(ABCG8):c.369C>T (p.His123=)
|
rs139859350
|
0.00004
|
NM_022437.3(ABCG8):c.419C>T (p.Ser140Leu)
|
rs781180097
|
0.00004
|
NM_022437.3(ABCG8):c.709G>A (p.Asp237Asn)
|
rs201868259
|
0.00004
|
NM_022437.3(ABCG8):c.722C>T (p.Ser241Phe)
|
rs547583131
|
0.00004
|
NM_022437.3(ABCG8):c.749A>G (p.Asn250Ser)
|
rs1444249475
|
0.00004
|
NM_022437.3(ABCG8):c.1017G>A (p.Arg339=)
|
rs375807484
|
0.00003
|
NM_022437.3(ABCG8):c.1125A>G (p.Glu375=)
|
rs371968769
|
0.00003
|
NM_022437.3(ABCG8):c.1128-5C>T
|
rs1277250843
|
0.00003
|
NM_022437.3(ABCG8):c.1476T>A (p.Tyr492Ter)
|
rs370422066
|
0.00003
|
NM_022437.3(ABCG8):c.1495G>A (p.Gly499Arg)
|
rs368551459
|
0.00003
|
NM_022437.3(ABCG8):c.1852G>A (p.Gly618Arg)
|
rs200005264
|
0.00003
|
NM_022437.3(ABCG8):c.215A>T (p.Lys72Met)
|
rs766529813
|
0.00003
|
NM_022437.3(ABCG8):c.381C>T (p.Ile127=)
|
rs759080514
|
0.00003
|
NM_022437.3(ABCG8):c.612C>T (p.Arg204=)
|
rs1173124891
|
0.00003
|
NM_022437.3(ABCG8):c.652C>T (p.Arg218Cys)
|
rs763000556
|
0.00003
|
NM_022437.3(ABCG8):c.694+7G>T
|
rs777435511
|
0.00003
|
NM_022437.3(ABCG8):c.863C>T (p.Ser288Phe)
|
rs373586893
|
0.00003
|
NM_022437.3(ABCG8):c.1107C>T (p.Asp369=)
|
rs774622976
|
0.00002
|
NM_022437.3(ABCG8):c.1276C>G (p.Leu426Val)
|
rs763933834
|
0.00002
|
NM_022437.3(ABCG8):c.130C>A (p.Pro44Thr)
|
rs770421664
|
0.00002
|
NM_022437.3(ABCG8):c.1387G>A (p.Val463Ile)
|
rs144061971
|
0.00002
|
NM_022437.3(ABCG8):c.1452C>T (p.Asp484=)
|
rs185116698
|
0.00002
|
NM_022437.3(ABCG8):c.1463C>A (p.Thr488Asn)
|
rs139612373
|
0.00002
|
NM_022437.3(ABCG8):c.1516G>T (p.Ala506Ser)
|
rs777346950
|
0.00002
|
NM_022437.3(ABCG8):c.1557C>T (p.Ala519=)
|
rs368114257
|
0.00002
|
NM_022437.3(ABCG8):c.1596C>T (p.Phe532=)
|
rs374820261
|
0.00002
|
NM_022437.3(ABCG8):c.165+10C>T
|
rs574722652
|
0.00002
|
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser)
|
rs548098742
|
0.00002
|
NM_022437.3(ABCG8):c.1807C>G (p.Leu603Val)
|
rs763348699
|
0.00002
|
NM_022437.3(ABCG8):c.320C>G (p.Ser107Ter)
|
rs137854891
|
0.00002
|
NM_022437.3(ABCG8):c.385T>A (p.Ser129Thr)
|
rs752367556
|
0.00002
|
NM_022437.3(ABCG8):c.571G>A (p.Val191Met)
|
rs201121311
|
0.00002
|
NM_022437.3(ABCG8):c.632G>A (p.Arg211Gln)
|
rs777288244
|
0.00002
|
NM_022437.3(ABCG8):c.695-7T>C
|
rs374648568
|
0.00002
|
NM_022437.3(ABCG8):c.938G>A (p.Arg313His)
|
rs745365455
|
0.00002
|
NM_022437.3(ABCG8):c.949C>A (p.Pro317Thr)
|
rs762542767
|
0.00002
|
NM_022437.3(ABCG8):c.1059G>C (p.Val353=)
|
rs751866338
|
0.00001
|
NM_022437.3(ABCG8):c.1061G>T (p.Arg354Leu)
|
rs142346631
|
0.00001
|
NM_022437.3(ABCG8):c.1117T>C (p.Cys373Arg)
|
rs554680915
|
0.00001
|
NM_022437.3(ABCG8):c.1211+7A>T
|
rs568899040
|
0.00001
|
NM_022437.3(ABCG8):c.1212-10G>C
|
rs765938367
|
0.00001
|
NM_022437.3(ABCG8):c.1220T>A (p.Ile407Asn)
|
rs992386164
|
0.00001
|
NM_022437.3(ABCG8):c.1333T>G (p.Phe445Val)
|
rs376492876
|
0.00001
|
NM_022437.3(ABCG8):c.1336A>G (p.Met446Val)
|
rs774038687
|
0.00001
|
NM_022437.3(ABCG8):c.1366G>A (p.Gly456Ser)
|
rs1367618593
|
0.00001
|
NM_022437.3(ABCG8):c.1385A>G (p.Asn462Ser)
|
rs769333089
|
0.00001
|
NM_022437.3(ABCG8):c.1429A>G (p.Met477Val)
|
rs373012474
|
0.00001
|
NM_022437.3(ABCG8):c.1444del (p.Leu482fs)
|
rs748233241
|
0.00001
|
NM_022437.3(ABCG8):c.1453G>A (p.Gly485Arg)
|
rs777641236
|
0.00001
|
NM_022437.3(ABCG8):c.1488+9G>A
|
rs200207405
|
0.00001
|
NM_022437.3(ABCG8):c.1513T>C (p.Cys505Arg)
|
rs1020921571
|
0.00001
|
NM_022437.3(ABCG8):c.1533C>T (p.Tyr511=)
|
rs763640657
|
0.00001
|
NM_022437.3(ABCG8):c.1569A>G (p.Pro523=)
|
rs575386215
|
0.00001
|
NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter)
|
rs544500542
|
0.00001
|
NM_022437.3(ABCG8):c.1643C>T (p.Ala548Val)
|
rs201258947
|
0.00001
|
NM_022437.3(ABCG8):c.168G>A (p.Val56=)
|
rs973149684
|
0.00001
|
NM_022437.3(ABCG8):c.1691A>G (p.Asn564Ser)
|
rs749742502
|
0.00001
|
NM_022437.3(ABCG8):c.1743C>A (p.Ser581Arg)
|
rs750730480
|
0.00001
|
NM_022437.3(ABCG8):c.175G>T (p.Ala59Ser)
|
rs779861537
|
0.00001
|
NM_022437.3(ABCG8):c.1762G>A (p.Ala588Thr)
|
rs748833010
|
0.00001
|
NM_022437.3(ABCG8):c.176C>A (p.Ala59Asp)
|
rs749036339
|
0.00001
|
NM_022437.3(ABCG8):c.1789C>A (p.Arg597=)
|
rs776778929
|
0.00001
|
NM_022437.3(ABCG8):c.1923C>T (p.Tyr641=)
|
rs369023184
|
0.00001
|
NM_022437.3(ABCG8):c.1943T>C (p.Ile648Thr)
|
rs1319856628
|
0.00001
|
NM_022437.3(ABCG8):c.1949T>G (p.Leu650Arg)
|
rs1209143268
|
0.00001
|
NM_022437.3(ABCG8):c.322+5C>T
|
rs377340438
|
0.00001
|
NM_022437.3(ABCG8):c.326G>A (p.Cys109Tyr)
|
rs1037114607
|
0.00001
|
NM_022437.3(ABCG8):c.462C>A (p.His154Gln)
|
rs1325379182
|
0.00001
|
NM_022437.3(ABCG8):c.579G>A (p.Ala193=)
|
rs747555833
|
0.00001
|
NM_022437.3(ABCG8):c.593G>T (p.Arg198Met)
|
rs777258651
|
0.00001
|
NM_022437.3(ABCG8):c.600C>T (p.Cys200=)
|
rs770511598
|
0.00001
|
NM_022437.3(ABCG8):c.619A>G (p.Asn207Asp)
|
rs141605800
|
0.00001
|
NM_022437.3(ABCG8):c.64-2A>G
|
rs934115584
|
0.00001
|
NM_022437.3(ABCG8):c.647G>A (p.Gly216Asp)
|
rs775262569
|
0.00001
|
NM_022437.3(ABCG8):c.64G>A (p.Gly22Ser)
|
rs373228989
|
0.00001
|
NM_022437.3(ABCG8):c.695-18C>T
|
rs1390675561
|
0.00001
|
NM_022437.3(ABCG8):c.710A>T (p.Asp237Val)
|
rs1163985023
|
0.00001
|
NM_022437.3(ABCG8):c.714A>G (p.Glu238=)
|
rs1326764043
|
0.00001
|
NM_022437.3(ABCG8):c.787C>T (p.Arg263Trp)
|
rs775957691
|
0.00001
|
NM_022437.3(ABCG8):c.811C>T (p.Gln271Ter)
|
rs371646728
|
0.00001
|
NM_022437.3(ABCG8):c.860C>T (p.Thr287Met)
|
rs201133496
|
0.00001
|
NM_022437.3(ABCG8):c.954T>A (p.Ala318=)
|
rs1342511943
|
0.00001
|
NM_022437.3(ABCG8):c.977G>A (p.Ser326Asn)
|
rs202030766
|
0.00001
|
NM_022437.3(ABCG8):c.992G>A (p.Ser331Asn)
|
rs751950437
|
0.00001
|
GRCh37/hg19 2p21(chr2:44087491-44109281)x3
|
|
|
NC_000002.11:g.(?_44099095)_(44105052_?)dup
|
|
|
NC_000002.11:g.(?_44100916)_(44105062_?)del
|
|
|
NM_022437.3(ABCG8):c.*6G>A
|
rs1296583671
|
|
NM_022437.3(ABCG8):c.1002G>A (p.Gln334=)
|
|
|
NM_022437.3(ABCG8):c.1007T>C (p.Leu336Ser)
|
|
|
NM_022437.3(ABCG8):c.100A>G (p.Asn34Asp)
|
|
|
NM_022437.3(ABCG8):c.1024G>T (p.Ala342Ser)
|
rs145373839
|
|
NM_022437.3(ABCG8):c.1028A>G (p.Gln343Arg)
|
rs2104945080
|
|
NM_022437.3(ABCG8):c.1046T>A (p.Phe349Tyr)
|
|
|
NM_022437.3(ABCG8):c.1070A>G (p.Asp357Gly)
|
rs1232951681
|
|
NM_022437.3(ABCG8):c.1073A>G (p.Asp358Gly)
|
rs1193359721
|
|
NM_022437.3(ABCG8):c.1078C>G (p.Leu360Val)
|
|
|
NM_022437.3(ABCG8):c.1127+14C>T
|
|
|
NM_022437.3(ABCG8):c.1127+15G>A
|
|
|
NM_022437.3(ABCG8):c.1127+5G>A
|
|
|
NM_022437.3(ABCG8):c.1127+6G>A
|
|
|
NM_022437.3(ABCG8):c.1128-4C>T
|
|
|
NM_022437.3(ABCG8):c.1131C>T (p.Ser377=)
|
|
|
NM_022437.3(ABCG8):c.1139C>T (p.Pro380Leu)
|
|
|
NM_022437.3(ABCG8):c.1140A>G (p.Pro380=)
|
|
|
NM_022437.3(ABCG8):c.1152C>G (p.Asn384Lys)
|
|
|
NM_022437.3(ABCG8):c.1169C>G (p.Thr390Arg)
|
rs761465379
|
|
NM_022437.3(ABCG8):c.1170G>T (p.Thr390=)
|
rs139902223
|
|
NM_022437.3(ABCG8):c.1180G>C (p.Gly394Arg)
|
rs374156864
|
|
NM_022437.3(ABCG8):c.1185G>A (p.Ala395=)
|
|
|
NM_022437.3(ABCG8):c.1197T>C (p.Phe399=)
|
|
|
NM_022437.3(ABCG8):c.1199C>A (p.Thr400Lys)
|
rs4148217
|
|
NM_022437.3(ABCG8):c.1203G>A (p.Thr401=)
|
rs886056033
|
|
NM_022437.3(ABCG8):c.120C>A (p.Tyr40Ter)
|
rs1000291485
|
|
NM_022437.3(ABCG8):c.1211+10T>C
|
rs201268110
|
|
NM_022437.3(ABCG8):c.1211+10T>G
|
|
|
NM_022437.3(ABCG8):c.1211+14A>C
|
|
|
NM_022437.3(ABCG8):c.1211+9C>G
|
|
|
NM_022437.3(ABCG8):c.1212-13T>C
|
|
|
NM_022437.3(ABCG8):c.1212-15C>T
|
|
|
NM_022437.3(ABCG8):c.1212-8T>A
|
|
|
NM_022437.3(ABCG8):c.1212-9G>C
|
|
|
NM_022437.3(ABCG8):c.1213C>T (p.Arg405Cys)
|
rs199553576
|
|
NM_022437.3(ABCG8):c.1227C>T (p.Asn409=)
|
|
|
NM_022437.3(ABCG8):c.122G>A (p.Ser41Asn)
|
rs772660192
|
|
NM_022437.3(ABCG8):c.1256_1257delinsAA (p.Ile419Lys)
|
rs2104947166
|
|
NM_022437.3(ABCG8):c.1265C>T (p.Ala422Val)
|
|
|
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val)
|
rs147194762
|
|
NM_022437.3(ABCG8):c.1288del (p.Thr430fs)
|
|
|
NM_022437.3(ABCG8):c.1291A>G (p.Ile431Val)
|
|
|
NM_022437.3(ABCG8):c.1293C>A (p.Ile431=)
|
rs202176869
|
|
NM_022437.3(ABCG8):c.1294G>A (p.Gly432Ser)
|
|
|
NM_022437.3(ABCG8):c.1320C>T (p.Ser440=)
|
|
|
NM_022437.3(ABCG8):c.1335C>T (p.Phe445=)
|
|
|
NM_022437.3(ABCG8):c.1340A>G (p.Asp447Gly)
|
rs989938038
|
|
NM_022437.3(ABCG8):c.1346C>T (p.Ala449Val)
|
rs138711636
|
|
NM_022437.3(ABCG8):c.1347C>T (p.Ala449=)
|
|
|
NM_022437.3(ABCG8):c.1356G>T (p.Leu452Phe)
|
|
|
NM_022437.3(ABCG8):c.1379C>G (p.Pro460Arg)
|
|
|
NM_022437.3(ABCG8):c.1405_1406del (p.Ser469fs)
|
|
|
NM_022437.3(ABCG8):c.1406C>A (p.Ser469Tyr)
|
rs1553383620
|
|
NM_022437.3(ABCG8):c.1412-116T>A
|
rs4952689
|
|
NM_022437.3(ABCG8):c.1412-116T>G
|
rs4952689
|
|
NM_022437.3(ABCG8):c.1412-129dup
|
rs368762671
|
|
NM_022437.3(ABCG8):c.1412-2A>G
|
rs2104947953
|
|
NM_022437.3(ABCG8):c.1412-3dup
|
|
|
NM_022437.3(ABCG8):c.1412-9_1412-8insT
|
rs138296512
|
|
NM_022437.3(ABCG8):c.1412-9_1412-8insTT
|
|
|
NM_022437.3(ABCG8):c.1423A>T (p.Arg475Trp)
|
|
|
NM_022437.3(ABCG8):c.144G>A (p.Glu48=)
|
|
|
NM_022437.3(ABCG8):c.1455G>T (p.Gly485=)
|
|
|
NM_022437.3(ABCG8):c.1469G>C (p.Gly490Ala)
|
rs1262203792
|
|
NM_022437.3(ABCG8):c.1488+251dup
|
rs142666542
|
|
NM_022437.3(ABCG8):c.1488+2T>G
|
|
|
NM_022437.3(ABCG8):c.1488+31_1488+33dup
|
rs3841852
|
|
NM_022437.3(ABCG8):c.1488+32_1488+33dup
|
rs3841852
|
|
NM_022437.3(ABCG8):c.1488+33dup
|
rs3841852
|
|
NM_022437.3(ABCG8):c.1488+5C>T
|
|
|
NM_022437.3(ABCG8):c.1488+89T>C
|
rs13405698
|
|
NM_022437.3(ABCG8):c.1489-20G>T
|
|
|
NM_022437.3(ABCG8):c.1489-4G>A
|
|
|
NM_022437.3(ABCG8):c.1489-5T>C
|
|
|
NM_022437.3(ABCG8):c.1494C>G (p.Leu498=)
|
|
|
NM_022437.3(ABCG8):c.1505C>T (p.Pro502Leu)
|
|
|
NM_022437.3(ABCG8):c.1522A>G (p.Ile508Val)
|
rs1553383983
|
|
NM_022437.3(ABCG8):c.1539G>A (p.Met513Ile)
|
|
|
NM_022437.3(ABCG8):c.1568C>T (p.Pro523Leu)
|
rs558635043
|
|
NM_022437.3(ABCG8):c.1571G>A (p.Gly524Asp)
|
|
|
NM_022437.3(ABCG8):c.1590G>A (p.Leu530=)
|
|
|
NM_022437.3(ABCG8):c.1599G>T (p.Leu533=)
|
rs1019461053
|
|
NM_022437.3(ABCG8):c.1611G>A (p.Leu537=)
|
rs772981807
|
|
NM_022437.3(ABCG8):c.1619T>C (p.Phe540Ser)
|
|
|
NM_022437.3(ABCG8):c.1625G>A (p.Cys542Tyr)
|
|
|
NM_022437.3(ABCG8):c.1637C>T (p.Ala546Val)
|
rs1025595416
|
|
NM_022437.3(ABCG8):c.1644C>T (p.Ala548=)
|
|
|
NM_022437.3(ABCG8):c.165+105G>C
|
rs4148213
|
|
NM_022437.3(ABCG8):c.165+86A>C
|
rs4148212
|
|
NM_022437.3(ABCG8):c.165+9A>G
|
|
|
NM_022437.3(ABCG8):c.1653C>A (p.Ala551=)
|
|
|
NM_022437.3(ABCG8):c.1657C>T (p.Leu553Phe)
|
rs1273558414
|
|
NM_022437.3(ABCG8):c.166-17C>A
|
rs766274717
|
|
NM_022437.3(ABCG8):c.1662C>T (p.Pro554=)
|
|
|
NM_022437.3(ABCG8):c.1665C>G (p.Thr555=)
|
rs781613870
|
|
NM_022437.3(ABCG8):c.1679C>T (p.Ser560Phe)
|
|
|
NM_022437.3(ABCG8):c.1703A>C (p.Asn568Thr)
|
rs1467158220
|
|
NM_022437.3(ABCG8):c.1705T>C (p.Ser569Pro)
|
|
|
NM_022437.3(ABCG8):c.1709_1711del (p.Phe570del)
|
|
|
NM_022437.3(ABCG8):c.1717G>A (p.Ala573Thr)
|
|
|
NM_022437.3(ABCG8):c.172C>G (p.Leu58Val)
|
rs769533045
|
|
NM_022437.3(ABCG8):c.1749G>A (p.Leu583=)
|
|
|
NM_022437.3(ABCG8):c.1756+14C>T
|
|
|
NM_022437.3(ABCG8):c.1756+15C>A
|
|
|
NM_022437.3(ABCG8):c.1756+15C>T
|
rs78577353
|
|
NM_022437.3(ABCG8):c.1756+16G>A
|
|
|
NM_022437.3(ABCG8):c.1756+6G>A
|
rs375563605
|
|
NM_022437.3(ABCG8):c.1756+6G>T
|
rs375563605
|
|
NM_022437.3(ABCG8):c.1756+82C>T
|
rs4148222
|
|
NM_022437.3(ABCG8):c.1757-14C>T
|
|
|
NM_022437.3(ABCG8):c.1757-15G>A
|
|
|
NM_022437.3(ABCG8):c.1757-2A>G
|
|
|
NM_022437.3(ABCG8):c.1757-4C>G
|
rs765522418
|
|
NM_022437.3(ABCG8):c.1757-87_1757-86del
|
rs10609687
|
|
NM_022437.3(ABCG8):c.1761C>T (p.Pro587=)
|
|
|
NM_022437.3(ABCG8):c.1815G>A (p.Lys605=)
|
|
|
NM_022437.3(ABCG8):c.1817T>C (p.Ile606Thr)
|
rs1553384611
|
|
NM_022437.3(ABCG8):c.1829GAA[1] (p.Arg611del)
|
rs767706636
|
|
NM_022437.3(ABCG8):c.1832G>A (p.Arg611Lys)
|
|
|
NM_022437.3(ABCG8):c.1832G>C (p.Arg611Thr)
|
|
|
NM_022437.3(ABCG8):c.1852G>C (p.Gly618Arg)
|
rs200005264
|
|
NM_022437.3(ABCG8):c.1858C>A (p.Leu620Ile)
|
|
|
NM_022437.3(ABCG8):c.1866C>A (p.Ile622=)
|
rs1333721350
|
|
NM_022437.3(ABCG8):c.1875A>G (p.Ser625=)
|
|
|
NM_022437.3(ABCG8):c.1877G>T (p.Gly626Val)
|
|
|
NM_022437.3(ABCG8):c.1884+10G>A
|
|
|
NM_022437.3(ABCG8):c.1884+10del
|
|
|
NM_022437.3(ABCG8):c.1884+9G>A
|
rs759152941
|
|
NM_022437.3(ABCG8):c.1885-20C>G
|
|
|
NM_022437.3(ABCG8):c.1885-7T>C
|
rs1485558944
|
|
NM_022437.3(ABCG8):c.1894_1895inv (p.Val632Thr)
|
|
|
NM_022437.3(ABCG8):c.1895T>C (p.Val632Ala)
|
rs6544718
|
|
NM_022437.3(ABCG8):c.1912T>C (p.Tyr638His)
|
|
|
NM_022437.3(ABCG8):c.1941C>T (p.Val647=)
|
rs147991100
|
|
NM_022437.3(ABCG8):c.1957G>A (p.Gly653Ser)
|
|
|
NM_022437.3(ABCG8):c.196G>T (p.Glu66Ter)
|
|
|
NM_022437.3(ABCG8):c.223T>G (p.Trp75Gly)
|
rs2104912471
|
|
NM_022437.3(ABCG8):c.255G>T (p.Glu85Asp)
|
|
|
NM_022437.3(ABCG8):c.271C>T (p.Leu91=)
|
|
|
NM_022437.3(ABCG8):c.272T>G (p.Leu91Arg)
|
|
|
NM_022437.3(ABCG8):c.282A>C (p.Lys94Asn)
|
|
|
NM_022437.3(ABCG8):c.284T>G (p.Val95Gly)
|
rs2104912533
|
|
NM_022437.3(ABCG8):c.291T>C (p.Ser97=)
|
|
|
NM_022437.3(ABCG8):c.322+10A>G
|
rs766026570
|
|
NM_022437.3(ABCG8):c.322+18C>T
|
|
|
NM_022437.3(ABCG8):c.322+19G>A
|
|
|
NM_022437.3(ABCG8):c.322+20C>T
|
|
|
NM_022437.3(ABCG8):c.323-10G>A
|
|
|
NM_022437.3(ABCG8):c.323-4G>T
|
|
|
NM_022437.3(ABCG8):c.330G>A (p.Gly110=)
|
rs764929713
|
|
NM_022437.3(ABCG8):c.345A>G (p.Leu115=)
|
|
|
NM_022437.3(ABCG8):c.361C>T (p.Arg121Ter)
|
rs375005392
|
|
NM_022437.3(ABCG8):c.371G>A (p.Gly124Asp)
|
|
|
NM_022437.3(ABCG8):c.373G>A (p.Gly125Ser)
|
|
|
NM_022437.3(ABCG8):c.386C>A (p.Ser129Ter)
|
|
|
NM_022437.3(ABCG8):c.389G>T (p.Gly130Val)
|
rs968485818
|
|
NM_022437.3(ABCG8):c.390C>G (p.Gly130=)
|
|
|
NM_022437.3(ABCG8):c.408del (p.Gln137fs)
|
|
|
NM_022437.3(ABCG8):c.420G>A (p.Ser140=)
|
|
|
NM_022437.3(ABCG8):c.450C>A (p.His150Gln)
|
|
|
NM_022437.3(ABCG8):c.451G>A (p.Val151Met)
|
|
|
NM_022437.3(ABCG8):c.470T>A (p.Leu157Gln)
|
rs1553378066
|
|
NM_022437.3(ABCG8):c.474C>G (p.Leu158=)
|
rs1317610779
|
|
NM_022437.3(ABCG8):c.474C>T (p.Leu158=)
|
|
|
NM_022437.3(ABCG8):c.479A>C (p.Asn160Thr)
|
|
|
NM_022437.3(ABCG8):c.490C>T (p.Arg164Ter)
|
|
|
NM_022437.3(ABCG8):c.512C>A (p.Ala171Asp)
|
|
|
NM_022437.3(ABCG8):c.521G>T (p.Arg174Leu)
|
|
|
NM_022437.3(ABCG8):c.547del (p.Gln183fs)
|
rs387906323
|
|
NM_022437.3(ABCG8):c.561+18G>A
|
|
|
NM_022437.3(ABCG8):c.562-14C>T
|
|
|
NM_022437.3(ABCG8):c.562-1G>C
|
|
|
NM_022437.3(ABCG8):c.562-204C>T
|
rs74732112
|
|
NM_022437.3(ABCG8):c.570C>T (p.Asp190=)
|
|
|
NM_022437.3(ABCG8):c.576C>A (p.Ile192=)
|
rs148058949
|
|
NM_022437.3(ABCG8):c.577G>A (p.Ala193Thr)
|
|
|
NM_022437.3(ABCG8):c.583C>T (p.Leu195=)
|
rs1427466962
|
|
NM_022437.3(ABCG8):c.584T>A (p.Leu195Gln)
|
|
|
NM_022437.3(ABCG8):c.598T>C (p.Cys200Arg)
|
|
|
NM_022437.3(ABCG8):c.610C>T (p.Arg204Cys)
|
|
|
NM_022437.3(ABCG8):c.613G>A (p.Val205Met)
|
|
|
NM_022437.3(ABCG8):c.613G>C (p.Val205Leu)
|
rs373723529
|
|
NM_022437.3(ABCG8):c.622A>G (p.Met208Val)
|
|
|
NM_022437.3(ABCG8):c.627C>T (p.Tyr209=)
|
|
|
NM_022437.3(ABCG8):c.634G>T (p.Gly212Trp)
|
rs746527671
|
|
NM_022437.3(ABCG8):c.642G>A (p.Ser214=)
|
rs202198142
|
|
NM_022437.3(ABCG8):c.647_657dup (p.Arg220fs)
|
rs1456237152
|
|
NM_022437.3(ABCG8):c.647del (p.Gly216fs)
|
rs2104919976
|
|
NM_022437.3(ABCG8):c.653G>A (p.Arg218His)
|
|
|
NM_022437.3(ABCG8):c.687G>A (p.Trp229Ter)
|
rs141909291
|
|
NM_022437.3(ABCG8):c.694+12G>T
|
|
|
NM_022437.3(ABCG8):c.694+17C>T
|
|
|
NM_022437.3(ABCG8):c.694+21_694+30dup
|
|
|
NM_022437.3(ABCG8):c.695-17CT[2]
|
rs9282576
|
|
NM_022437.3(ABCG8):c.702T>C (p.Leu234=)
|
rs1025227490
|
|
NM_022437.3(ABCG8):c.708C>G (p.Leu236=)
|
|
|
NM_022437.3(ABCG8):c.711C>T (p.Asp237=)
|
|
|
NM_022437.3(ABCG8):c.715C>T (p.Pro239Ser)
|
|
|
NM_022437.3(ABCG8):c.726G>C (p.Gly242=)
|
|
|
NM_022437.3(ABCG8):c.72_73delinsC (p.Gln24fs)
|
rs1558796310
|
|
NM_022437.3(ABCG8):c.730G>A (p.Asp244Asn)
|
|
|
NM_022437.3(ABCG8):c.742G>A (p.Ala248Thr)
|
|
|
NM_022437.3(ABCG8):c.743C>T (p.Ala248Val)
|
rs533359544
|
|
NM_022437.3(ABCG8):c.745C>G (p.His249Asp)
|
rs1553378371
|
|
NM_022437.3(ABCG8):c.751del (p.Leu251fs)
|
rs763568449
|
|
NM_022437.3(ABCG8):c.768C>T (p.Ser256=)
|
rs1558811634
|
|
NM_022437.3(ABCG8):c.785A>G (p.Asn262Ser)
|
rs1558811693
|
|
NM_022437.3(ABCG8):c.797T>C (p.Leu266Pro)
|
|
|
NM_022437.3(ABCG8):c.804C>G (p.Ser268=)
|
|
|
NM_022437.3(ABCG8):c.807C>T (p.Leu269=)
|
|
|
NM_022437.3(ABCG8):c.818G>A (p.Arg273His)
|
|
|
NM_022437.3(ABCG8):c.860C>A (p.Thr287Lys)
|
|
|
NM_022437.3(ABCG8):c.866G>A (p.Gly289Asp)
|
rs769842021
|
|
NM_022437.3(ABCG8):c.888G>A (p.Ala296=)
|
rs143182625
|
|
NM_022437.3(ABCG8):c.914C>A (p.Thr305Lys)
|
rs536828373
|
|
NM_022437.3(ABCG8):c.918C>T (p.Ala306=)
|
|
|
NM_022437.3(ABCG8):c.921C>T (p.Ile307=)
|
|
|
NM_022437.3(ABCG8):c.922G>T (p.Gly308Cys)
|
|
|
NM_022437.3(ABCG8):c.964+14G>A
|
|
|
NM_022437.3(ABCG8):c.964+1G>T
|
|
|
NM_022437.3(ABCG8):c.964+235A>G
|
rs72796747
|
|
NM_022437.3(ABCG8):c.964+3G>A
|
rs1356721220
|
|
NM_022437.3(ABCG8):c.965-11C>T
|
rs748803910
|
|
NM_022437.3(ABCG8):c.965-19C>T
|
|
|
NM_022437.3(ABCG8):c.965-1G>C
|
rs957176669
|
|
NM_022437.3(ABCG8):c.965-289G>T
|
rs72798837
|
|
NM_022437.3(ABCG8):c.968A>T (p.Asp323Val)
|
|
|
NM_022437.3(ABCG8):c.977G>T (p.Ser326Ile)
|
|
|
NM_022437.3(ABCG8):c.984C>T (p.Asp328=)
|
|
|
NM_022437.3(ABCG8):c.997G>A (p.Glu333Lys)
|
|
|