NM_000352.6(ABCC8):c.2256-50T>C
|
rs4148626
|
0.89459
|
NM_000352.6(ABCC8):c.2117-301T>C
|
rs4148622
|
0.75337
|
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser)
|
rs757110
|
0.71935
|
NM_000352.6(ABCC8):c.4608+54G>C
|
rs4148646
|
0.71546
|
NM_000352.6(ABCC8):c.2820+17A>G
|
rs2106865
|
0.62022
|
NM_000352.6(ABCC8):c.207T>C (p.Pro69=)
|
rs1048099
|
0.47531
|
NM_000352.6(ABCC8):c.579+14C>T
|
rs2301703
|
0.46493
|
NM_000352.6(ABCC8):c.1468-105A>G
|
rs2073587
|
0.45483
|
NM_000352.6(ABCC8):c.4120-27T>C
|
rs739689
|
0.45032
|
NM_000352.6(ABCC8):c.412+77G>A
|
rs10400389
|
0.44607
|
NM_000352.6(ABCC8):c.1686C>T (p.His562=)
|
rs1799857
|
0.44260
|
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=)
|
rs1799859
|
0.39734
|
NM_000352.6(ABCC8):c.1011+87A>G
|
rs886291
|
0.38440
|
NM_000352.6(ABCC8):c.823-105A>G
|
rs886290
|
0.38348
|
NM_000352.6(ABCC8):c.2117-3C>T
|
rs1799854
|
0.36733
|
NM_000352.6(ABCC8):c.4609-40A>G
|
rs1109591
|
0.36421
|
NM_000352.6(ABCC8):c.579+254G>A
|
rs4148609
|
0.33478
|
NM_000352.6(ABCC8):c.579+204G>C
|
rs3815066
|
0.32281
|
NM_000352.6(ABCC8):c.412+262T>A
|
rs2237968
|
0.31319
|
NM_000352.6(ABCC8):c.412+312A>C
|
rs2237969
|
0.31148
|
NM_000352.6(ABCC8):c.3754-156C>T
|
rs4148642
|
0.29693
|
NM_000352.6(ABCC8):c.3329+307C>T
|
rs2077655
|
0.28977
|
NM_000352.6(ABCC8):c.3329+268G>C
|
rs2077654
|
0.27248
|
NM_000352.6(ABCC8):c.823-106C>T
|
rs886289
|
0.22723
|
NM_000352.6(ABCC8):c.4119+93G>T
|
rs4148644
|
0.21307
|
NM_000352.6(ABCC8):c.2256-65G>A
|
rs12293228
|
0.21257
|
NM_000352.6(ABCC8):c.4609-82G>A
|
rs41282912
|
0.20727
|
NM_000352.6(ABCC8):c.4608+101T>G
|
rs17846719
|
0.19011
|
NM_000352.6(ABCC8):c.3651-229A>G
|
rs7927686
|
0.18814
|
NM_000352.6(ABCC8):c.1671+308G>A
|
rs4148618
|
0.16559
|
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)
|
rs1799858
|
0.16150
|
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=)
|
rs1805036
|
0.14682
|
NM_000352.6(ABCC8):c.822+92G>A
|
rs2074317
|
0.14581
|
NM_000352.6(ABCC8):c.2820+67C>T
|
rs4148634
|
0.14037
|
NM_000352.6(ABCC8):c.148+119C>T
|
rs77889556
|
0.12683
|
NM_000352.6(ABCC8):c.3558-95C>T
|
rs4757513
|
0.12132
|
NM_000352.6(ABCC8):c.1672-74G>A
|
rs2074308
|
0.11501
|
NM_000352.6(ABCC8):c.1672-97A>C
|
rs8192694
|
0.11268
|
NM_000352.6(ABCC8):c.3558-233T>A
|
rs16934040
|
0.10045
|
NM_000352.6(ABCC8):c.823-107C>A
|
rs76090207
|
0.08430
|
NM_000352.6(ABCC8):c.4119+254C>G
|
rs12288315
|
0.08185
|
NM_000352.6(ABCC8):c.291-62G>T
|
rs11024298
|
0.07952
|
NM_000352.6(ABCC8):c.330C>T (p.Ala110=)
|
rs8192695
|
0.06691
|
NM_000352.6(ABCC8):c.1012-317A>G
|
rs78970117
|
0.06659
|
NM_000352.6(ABCC8):c.4198+62G>A
|
rs8192691
|
0.06520
|
NM_000352.6(ABCC8):c.4412-179C>T
|
rs17846770
|
0.06299
|
NM_000352.6(ABCC8):c.3867+157C>T
|
rs17846764
|
0.05919
|
NM_000352.6(ABCC8):c.412+208G>A
|
rs76542475
|
0.05697
|
NM_000352.6(ABCC8):c.1333-1265A>G
|
rs11821015
|
0.05039
|
NC_000011.10:g.17477214T>A
|
rs36234280
|
0.04704
|
NM_000352.6(ABCC8):c.149-156T>C
|
rs74607324
|
0.04704
|
NM_000352.6(ABCC8):c.291-243C>A
|
rs59060762
|
0.04530
|
NM_000352.6(ABCC8):c.1332+309G>A
|
rs113208965
|
0.04397
|
NM_000352.6(ABCC8):c.-49G>C
|
rs77498130
|
0.03452
|
NM_000352.6(ABCC8):c.2117-261G>A
|
rs73423060
|
0.03394
|
NM_000352.6(ABCC8):c.2695-252C>A
|
rs78483822
|
0.03260
|
NM_000352.6(ABCC8):c.1333-828C>A
|
rs79296881
|
0.03004
|
NM_000352.6(ABCC8):c.579+132A>T
|
rs77462644
|
0.02892
|
NM_000352.6(ABCC8):c.1332+212C>T
|
rs78418682
|
0.02774
|
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=)
|
rs1801261
|
0.02724
|
NM_000352.6(ABCC8):c.291-142C>T
|
rs115955857
|
0.02573
|
NM_000352.6(ABCC8):c.148+308A>T
|
rs115286421
|
0.01969
|
NM_000352.6(ABCC8):c.1011+223C>T
|
rs113325502
|
0.01949
|
NM_000352.6(ABCC8):c.580-314T>C
|
rs111866974
|
0.01943
|
NM_000352.6(ABCC8):c.413-318G>A
|
rs111401304
|
0.01918
|
NM_000352.6(ABCC8):c.2116+145G>T
|
rs78813404
|
0.01912
|
NM_000352.6(ABCC8):c.1012-147T>G
|
rs76391488
|
0.01898
|
NM_000352.6(ABCC8):c.4412-151C>T
|
rs118117634
|
0.01818
|
NM_000352.6(ABCC8):c.2695-322A>C
|
rs118127827
|
0.01783
|
NM_000352.6(ABCC8):c.-19A>G
|
rs193922394
|
0.01648
|
NM_000352.6(ABCC8):c.822+216G>A
|
rs111858608
|
0.01477
|
NM_000352.6(ABCC8):c.1333-333G>T
|
rs59392822
|
0.01453
|
NM_000352.6(ABCC8):c.4411+337G>A
|
rs73419232
|
0.01453
|
NM_000352.6(ABCC8):c.579+286G>T
|
rs76517733
|
0.01451
|
NM_000352.6(ABCC8):c.2116+295A>G
|
rs77330420
|
0.01391
|
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=)
|
rs60824529
|
0.01375
|
NM_000352.6(ABCC8):c.1333-1187C>T
|
rs560908837
|
0.01359
|
NM_000352.6(ABCC8):c.4120-19C>T
|
rs1800853
|
0.01325
|
NM_000352.6(ABCC8):c.3329+6C>T
|
rs113873225
|
0.01304
|
NM_000352.6(ABCC8):c.2041-28C>T
|
rs116419577
|
0.01293
|
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=)
|
rs149861153
|
0.01269
|
NM_000352.6(ABCC8):c.3400-295C>A
|
rs113111413
|
0.01250
|
NM_000352.6(ABCC8):c.1012-106G>A
|
rs74901066
|
0.01210
|
NM_000352.6(ABCC8):c.1333-1032G>A
|
rs11821525
|
0.01157
|
NM_000352.6(ABCC8):c.4119+18A>G
|
rs75967811
|
0.01067
|
NM_000352.6(ABCC8):c.2538C>T (p.His846=)
|
rs73423037
|
0.01028
|
NM_000352.6(ABCC8):c.2556+22G>A
|
rs73423036
|
0.01022
|
NM_000352.6(ABCC8):c.423G>A (p.Val141=)
|
rs116132921
|
0.01009
|
NM_000352.6(ABCC8):c.2255+167T>C
|
rs139042933
|
0.00978
|
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)
|
rs61748766
|
0.00948
|
NM_000352.6(ABCC8):c.3650+288C>A
|
rs113719324
|
0.00898
|
NM_000352.6(ABCC8):c.412+297G>C
|
rs111401552
|
0.00892
|
NM_000352.6(ABCC8):c.2694+246G>A
|
rs117434520
|
0.00887
|
NM_000352.6(ABCC8):c.291-334G>A
|
rs115123841
|
0.00875
|
NM_000352.6(ABCC8):c.4608+187G>C
|
rs117727754
|
0.00832
|
NM_000352.6(ABCC8):c.1012-108A>G
|
rs181101636
|
0.00795
|
NM_000352.6(ABCC8):c.2820+169G>A
|
rs60810507
|
0.00754
|
NM_000352.6(ABCC8):c.4545+191G>A
|
rs112901773
|
0.00685
|
NM_000352.6(ABCC8):c.1332+28G>A
|
rs1800850
|
0.00667
|
NM_000352.6(ABCC8):c.3867+132G>A
|
rs78537444
|
0.00565
|
NM_000352.6(ABCC8):c.3651-349T>C
|
rs112318090
|
0.00545
|
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)
|
rs113282901
|
0.00497
|
NM_000352.6(ABCC8):c.4198+65C>T
|
rs138220289
|
0.00474
|
NM_000352.6(ABCC8):c.579+187G>A
|
rs2301704
|
0.00440
|
NM_000352.6(ABCC8):c.354C>T (p.Val118=)
|
rs137873871
|
0.00434
|
NM_000352.6(ABCC8):c.1671+31G>A
|
rs190600550
|
0.00431
|
NM_000352.6(ABCC8):c.3754-186G>A
|
rs188359981
|
0.00422
|
NM_000352.6(ABCC8):c.2820+122G>A
|
rs12272831
|
0.00399
|
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)
|
rs58820146
|
0.00381
|
NM_000352.6(ABCC8):c.2556+30C>T
|
rs76285388
|
0.00367
|
NM_000352.6(ABCC8):c.2476-74A>T
|
rs78152929
|
0.00366
|
NM_000352.6(ABCC8):c.3557+23G>T
|
rs200089482
|
0.00328
|
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=)
|
rs75376282
|
0.00284
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
NM_000352.6(ABCC8):c.-8G>T
|
rs200091822
|
0.00270
|
NM_000352.6(ABCC8):c.4545+13C>T
|
rs78338172
|
0.00212
|
NM_000352.6(ABCC8):c.4120-131A>G
|
rs190889435
|
0.00205
|
NM_000352.6(ABCC8):c.945C>T (p.Ala315=)
|
rs138521721
|
0.00173
|
NM_000352.6(ABCC8):c.3399+13G>A
|
rs182340196
|
0.00160
|
NM_000352.6(ABCC8):c.822+20C>T
|
rs181998151
|
0.00136
|
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn)
|
rs142272833
|
0.00130
|
NM_000352.6(ABCC8):c.1332+4del
|
rs587783164
|
0.00128
|
NM_000352.6(ABCC8):c.1177-56G>A
|
rs183921963
|
0.00123
|
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=)
|
rs138141427
|
0.00121
|
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)
|
rs111967655
|
0.00116
|
NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=)
|
rs145386421
|
0.00115
|
NM_000352.6(ABCC8):c.1924-17C>T
|
rs117189973
|
0.00105
|
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=)
|
rs146156937
|
0.00103
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
NM_000352.6(ABCC8):c.1630+10C>T
|
rs188075767
|
0.00098
|
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)
|
rs117874766
|
0.00097
|
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val)
|
rs148709148
|
0.00093
|
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)
|
rs147623093
|
0.00083
|
NM_000352.6(ABCC8):c.4198+18C>T
|
rs373178978
|
0.00081
|
NM_000352.6(ABCC8):c.1252T>C (p.Cys418Arg)
|
rs67254669
|
0.00072
|
NM_000352.6(ABCC8):c.2176G>A (p.Ala726Thr)
|
rs138687850
|
0.00072
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
NM_000352.6(ABCC8):c.3867+7G>A
|
rs372198547
|
0.00049
|
NM_000352.6(ABCC8):c.486C>T (p.Ile162=)
|
rs149872185
|
0.00038
|
NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=)
|
rs201662945
|
0.00026
|
NM_000352.6(ABCC8):c.105G>A (p.Pro35=)
|
rs199925058
|
0.00024
|
NM_000352.6(ABCC8):c.1630+8C>T
|
rs200053398
|
0.00024
|
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)
|
rs139486832
|
0.00022
|
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)
|
rs137852672
|
0.00022
|
NM_000352.6(ABCC8):c.1644G>T (p.Thr548=)
|
rs565996783
|
0.00019
|
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met)
|
rs4148619
|
0.00019
|
NM_000352.6(ABCC8):c.3989-9G>A
|
rs151344623
|
0.00019
|
NM_000352.6(ABCC8):c.4368C>T (p.Ile1456=)
|
rs193922403
|
0.00019
|
NM_000352.6(ABCC8):c.2888A>G (p.Asp963Gly)
|
rs538013271
|
0.00017
|
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=)
|
rs186634115
|
0.00017
|
NM_000352.6(ABCC8):c.1919C>T (p.Ala640Val)
|
rs369049969
|
0.00016
|
NM_000352.6(ABCC8):c.3000C>T (p.Cys1000=)
|
rs192863214
|
0.00016
|
NM_000352.6(ABCC8):c.3399+12C>T
|
rs372561049
|
0.00016
|
NM_000352.6(ABCC8):c.4412-14C>T
|
rs193922404
|
0.00016
|
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=)
|
rs145673861
|
0.00016
|
NM_000352.6(ABCC8):c.823-8C>T
|
rs201000679
|
0.00014
|
NM_000352.6(ABCC8):c.1818-6G>A
|
rs368708177
|
0.00013
|
NM_000352.6(ABCC8):c.3984C>T (p.Leu1328=)
|
rs368419322
|
0.00013
|
NM_000352.6(ABCC8):c.4464G>A (p.Leu1488=)
|
rs374880588
|
0.00013
|
NM_000352.6(ABCC8):c.45C>T (p.Tyr15=)
|
rs758231286
|
0.00013
|
NM_000352.6(ABCC8):c.102G>A (p.Val34=)
|
rs189746511
|
0.00011
|
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln)
|
rs368114790
|
0.00011
|
NM_000352.6(ABCC8):c.2060C>T (p.Thr687Met)
|
rs150316347
|
0.00011
|
NM_000352.6(ABCC8):c.4119+15C>T
|
rs58368439
|
0.00011
|
NM_000352.6(ABCC8):c.892C>T (p.Arg298Cys)
|
rs144705160
|
0.00011
|
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)
|
rs367974472
|
0.00010
|
NM_000352.6(ABCC8):c.3513C>T (p.Ala1171=)
|
rs778961697
|
0.00010
|
NM_000352.6(ABCC8):c.4227C>T (p.Ile1409=)
|
rs146584228
|
0.00010
|
NM_000352.6(ABCC8):c.723C>T (p.His241=)
|
rs147276708
|
0.00010
|
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His)
|
rs199763382
|
0.00009
|
NM_000352.6(ABCC8):c.2544C>T (p.Asn848=)
|
rs144200345
|
0.00009
|
NM_000352.6(ABCC8):c.3039G>A (p.Ser1013=)
|
rs17846762
|
0.00009
|
NM_000352.6(ABCC8):c.4425A>G (p.Thr1475=)
|
rs368134766
|
0.00009
|
NM_000352.6(ABCC8):c.1486C>T (p.Leu496=)
|
rs150956385
|
0.00008
|
NM_000352.6(ABCC8):c.1662T>G (p.Ala554=)
|
rs368782953
|
0.00008
|
NM_000352.6(ABCC8):c.3413C>T (p.Thr1138Met)
|
rs201351976
|
0.00008
|
NM_000352.6(ABCC8):c.375C>G (p.His125Gln)
|
rs60637558
|
0.00008
|
NM_000352.6(ABCC8):c.3858C>T (p.Tyr1286=)
|
rs377045545
|
0.00008
|
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=)
|
rs562715858
|
0.00008
|
NM_000352.6(ABCC8):c.4325A>T (p.Glu1442Val)
|
rs562680077
|
0.00008
|
NM_000352.6(ABCC8):c.4360C>T (p.Leu1454=)
|
rs544133684
|
0.00008
|
NM_000352.6(ABCC8):c.4690A>G (p.Lys1564Glu)
|
rs770317560
|
0.00008
|
NM_000352.6(ABCC8):c.765C>T (p.Ile255=)
|
rs753335564
|
0.00008
|
NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln)
|
rs376080397
|
0.00007
|
NM_000352.6(ABCC8):c.2094C>T (p.Asn698=)
|
rs757172850
|
0.00007
|
NM_000352.6(ABCC8):c.3099G>A (p.Leu1033=)
|
rs200693100
|
0.00007
|
NM_000352.6(ABCC8):c.393C>T (p.Asn131=)
|
rs372524091
|
0.00007
|
NM_000352.6(ABCC8):c.1368C>T (p.Leu456=)
|
rs775001123
|
0.00006
|
NM_000352.6(ABCC8):c.1924-13A>G
|
rs369865762
|
0.00006
|
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln)
|
rs146378237
|
0.00006
|
NM_000352.6(ABCC8):c.2222+12A>G
|
rs534103042
|
0.00006
|
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn)
|
rs531684936
|
0.00006
|
NM_000352.6(ABCC8):c.3329+7G>A
|
rs776313489
|
0.00006
|
NM_000352.6(ABCC8):c.3516C>T (p.Ile1172=)
|
rs142155036
|
0.00006
|
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys)
|
rs200563930
|
0.00006
|
NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=)
|
rs373478721
|
0.00006
|
NM_000352.6(ABCC8):c.4719C>T (p.Phe1573=)
|
rs772045105
|
0.00006
|
NM_000352.6(ABCC8):c.4733G>A (p.Arg1578His)
|
rs143557848
|
0.00006
|
NM_000352.6(ABCC8):c.621C>T (p.Pro207=)
|
rs765043940
|
0.00006
|
NM_000352.6(ABCC8):c.647G>A (p.Arg216His)
|
rs199702708
|
0.00006
|
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln)
|
rs185040406
|
0.00006
|
NM_000352.6(ABCC8):c.853C>T (p.Arg285Trp)
|
rs773087569
|
0.00006
|
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr)
|
rs761748692
|
0.00005
|
NM_000352.6(ABCC8):c.1704G>A (p.Glu568=)
|
rs745652559
|
0.00005
|
NM_000352.6(ABCC8):c.2870G>A (p.Arg957His)
|
rs775921458
|
0.00005
|
NM_000352.6(ABCC8):c.2883G>A (p.Ser961=)
|
rs556416269
|
0.00005
|
NM_000352.6(ABCC8):c.3073G>A (p.Val1025Ile)
|
rs771882862
|
0.00005
|
NM_000352.6(ABCC8):c.3996G>A (p.Ser1332=)
|
rs746146690
|
0.00005
|
NM_000352.6(ABCC8):c.4059C>T (p.Tyr1353=)
|
rs374602183
|
0.00005
|
NM_000352.6(ABCC8):c.4482C>T (p.Ala1494=)
|
rs374853931
|
0.00005
|
NM_000352.6(ABCC8):c.4546-4G>A
|
rs770984647
|
0.00005
|
NM_000352.6(ABCC8):c.1281G>A (p.Gln427=)
|
rs112488640
|
0.00004
|
NM_000352.6(ABCC8):c.1536C>T (p.Tyr512=)
|
rs765090096
|
0.00004
|
NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met)
|
rs763794263
|
0.00004
|
NM_000352.6(ABCC8):c.1764A>T (p.Thr588=)
|
rs764095167
|
0.00004
|
NM_000352.6(ABCC8):c.1860T>G (p.Arg620=)
|
rs745600400
|
0.00004
|
NM_000352.6(ABCC8):c.1924-10C>T
|
rs200823913
|
0.00004
|
NM_000352.6(ABCC8):c.2041-21G>A
|
rs746714109
|
0.00004
|
NM_000352.6(ABCC8):c.2117-12C>A
|
rs193922398
|
0.00004
|
NM_000352.6(ABCC8):c.2117-16C>T
|
rs780203710
|
0.00004
|
NM_000352.6(ABCC8):c.2274G>A (p.Ala758=)
|
rs761258571
|
0.00004
|
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys)
|
rs140068774
|
0.00004
|
NM_000352.6(ABCC8):c.3087C>A (p.Ile1029=)
|
rs376413488
|
0.00004
|
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)
|
rs759961510
|
0.00004
|
NM_000352.6(ABCC8):c.3492C>T (p.Leu1164=)
|
rs376769951
|
0.00004
|
NM_000352.6(ABCC8):c.3558-7G>A
|
rs900191703
|
0.00004
|
NM_000352.6(ABCC8):c.3564G>A (p.Leu1188=)
|
rs751836972
|
0.00004
|
NM_000352.6(ABCC8):c.3603A>G (p.Ser1201=)
|
rs145874746
|
0.00004
|
NM_000352.6(ABCC8):c.3613G>A (p.Glu1205Lys)
|
rs768448830
|
0.00004
|
NM_000352.6(ABCC8):c.3618C>T (p.Thr1206=)
|
rs775134825
|
0.00004
|
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp)
|
rs139964066
|
0.00004
|
NM_000352.6(ABCC8):c.3885C>T (p.Asn1295=)
|
rs542157938
|
0.00004
|
NM_000352.6(ABCC8):c.3948G>A (p.Gly1316=)
|
rs750535719
|
0.00004
|
NM_000352.6(ABCC8):c.4008G>C (p.Lys1336Asn)
|
rs67767715
|
0.00004
|
NM_000352.6(ABCC8):c.403C>G (p.Leu135Val)
|
rs368450282
|
0.00004
|
NM_000352.6(ABCC8):c.4122C>T (p.Ile1374=)
|
rs75218493
|
0.00004
|
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
|
rs137852676
|
0.00004
|
NM_000352.6(ABCC8):c.4284C>T (p.Pro1428=)
|
rs986616476
|
0.00004
|
NM_000352.6(ABCC8):c.4515C>T (p.Asp1505=)
|
rs751591418
|
0.00004
|
NM_000352.6(ABCC8):c.4647C>T (p.Ile1549=)
|
rs367862706
|
0.00004
|
NM_000352.6(ABCC8):c.4677C>T (p.Phe1559=)
|
rs771106160
|
0.00004
|
NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln)
|
rs374743072
|
0.00004
|
NM_000352.6(ABCC8):c.480C>T (p.His160=)
|
rs769858502
|
0.00004
|
NM_000352.6(ABCC8):c.495G>A (p.Ser165=)
|
rs369136858
|
0.00004
|
NM_000352.6(ABCC8):c.552C>T (p.Leu184=)
|
rs151211613
|
0.00004
|
NM_000352.6(ABCC8):c.627C>T (p.Asp209=)
|
rs80356640
|
0.00004
|
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)
|
rs200670692
|
0.00004
|
NM_000352.6(ABCC8):c.735C>T (p.Ile245=)
|
rs535141079
|
0.00004
|
NM_000352.6(ABCC8):c.90G>A (p.Ala30=)
|
rs377209579
|
0.00004
|
NM_000352.6(ABCC8):c.942C>T (p.Phe314=)
|
rs768582290
|
0.00004
|
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys)
|
rs59852838
|
0.00003
|
NM_000352.6(ABCC8):c.1270G>A (p.Asp424Asn)
|
rs577545383
|
0.00003
|
NM_000352.6(ABCC8):c.1332+9T>C
|
rs775059899
|
0.00003
|
NM_000352.6(ABCC8):c.1407A>C (p.Leu469=)
|
rs751643248
|
0.00003
|
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln)
|
rs1420601296
|
0.00003
|
NM_000352.6(ABCC8):c.1513G>A (p.Gly505Ser)
|
rs200977997
|
0.00003
|
NM_000352.6(ABCC8):c.1923+10C>T
|
rs775087598
|
0.00003
|
NM_000352.6(ABCC8):c.2163G>C (p.Ser721=)
|
rs201724038
|
0.00003
|
NM_000352.6(ABCC8):c.2235C>T (p.Ser745=)
|
rs200708414
|
0.00003
|
NM_000352.6(ABCC8):c.2526C>A (p.Ala842=)
|
rs760401293
|
0.00003
|
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)
|
rs570388861
|
0.00003
|
NM_000352.6(ABCC8):c.2921-9G>A
|
rs757171524
|
0.00003
|
NM_000352.6(ABCC8):c.2977G>A (p.Ala993Thr)
|
rs148342166
|
0.00003
|
NM_000352.6(ABCC8):c.3018C>T (p.Ser1006=)
|
rs149279510
|
0.00003
|
NM_000352.6(ABCC8):c.313C>T (p.His105Tyr)
|
rs766068851
|
0.00003
|
NM_000352.6(ABCC8):c.3308G>A (p.Arg1103Gln)
|
rs765913448
|
0.00003
|
NM_000352.6(ABCC8):c.3439C>T (p.Leu1147=)
|
rs372257088
|
0.00003
|
NM_000352.6(ABCC8):c.3462C>T (p.Ala1154=)
|
rs540122589
|
0.00003
|
NM_000352.6(ABCC8):c.3465C>G (p.Val1155=)
|
rs368044193
|
0.00003
|
NM_000352.6(ABCC8):c.3558-10C>T
|
rs767866373
|
0.00003
|
NM_000352.6(ABCC8):c.3918C>G (p.Leu1306=)
|
rs372186045
|
0.00003
|
NM_000352.6(ABCC8):c.413-15A>G
|
rs758744263
|
0.00003
|
NM_000352.6(ABCC8):c.4178G>A (p.Arg1393His)
|
rs769279368
|
0.00003
|
NM_000352.6(ABCC8):c.4410C>T (p.Leu1470=)
|
rs369810811
|
0.00003
|
NM_000352.6(ABCC8):c.4608+10C>T
|
rs754304889
|
0.00003
|
NM_000352.6(ABCC8):c.603G>A (p.Pro201=)
|
rs765113879
|
0.00003
|
NM_000352.6(ABCC8):c.794G>A (p.Arg265Gln)
|
rs757018137
|
0.00003
|
NM_000352.6(ABCC8):c.822+7G>A
|
rs765890511
|
0.00003
|
NM_000352.6(ABCC8):c.1002C>T (p.Phe334=)
|
rs763978514
|
0.00002
|
NM_000352.6(ABCC8):c.1071C>G (p.Val357=)
|
rs747552453
|
0.00002
|
NM_000352.6(ABCC8):c.1101A>T (p.Leu367=)
|
rs778750377
|
0.00002
|
NM_000352.6(ABCC8):c.1176+7G>A
|
rs1165894128
|
0.00002
|
NM_000352.6(ABCC8):c.1257T>C (p.Asn419=)
|
rs773068195
|
0.00002
|
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)
|
rs372307320
|
0.00002
|
NM_000352.6(ABCC8):c.1668C>T (p.Leu556=)
|
rs1287759139
|
0.00002
|
NM_000352.6(ABCC8):c.1716G>A (p.Ser572=)
|
rs750619309
|
0.00002
|
NM_000352.6(ABCC8):c.1722C>T (p.Ser574=)
|
rs1471889041
|
0.00002
|
NM_000352.6(ABCC8):c.1767G>A (p.Pro589=)
|
rs550788491
|
0.00002
|
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)
|
rs139328569
|
0.00002
|
NM_000352.6(ABCC8):c.1800C>T (p.Thr600=)
|
rs371181016
|
0.00002
|
NM_000352.6(ABCC8):c.1817+8G>A
|
rs781153278
|
0.00002
|
NM_000352.6(ABCC8):c.1970G>A (p.Arg657Gln)
|
rs755707550
|
0.00002
|
NM_000352.6(ABCC8):c.1998G>C (p.Leu666=)
|
rs1191652273
|
0.00002
|
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)
|
rs764349043
|
0.00002
|
NM_000352.6(ABCC8):c.2178A>G (p.Ala726=)
|
rs747902103
|
0.00002
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
NM_000352.6(ABCC8):c.2634C>T (p.Asp878=)
|
rs754554936
|
0.00002
|
NM_000352.6(ABCC8):c.291-3C>T
|
rs764107333
|
0.00002
|
NM_000352.6(ABCC8):c.2921-4G>T
|
rs762652829
|
0.00002
|
NM_000352.6(ABCC8):c.3021C>T (p.Ala1007=)
|
rs556199509
|
0.00002
|
NM_000352.6(ABCC8):c.303C>A (p.Ser101=)
|
rs767866154
|
0.00002
|
NM_000352.6(ABCC8):c.3063C>A (p.Leu1021=)
|
rs372504462
|
0.00002
|
NM_000352.6(ABCC8):c.3117C>T (p.Ser1039=)
|
rs199723884
|
0.00002
|
NM_000352.6(ABCC8):c.3156C>T (p.Leu1052=)
|
rs145811577
|
0.00002
|
NM_000352.6(ABCC8):c.3293G>A (p.Arg1098His)
|
rs1057523131
|
0.00002
|
NM_000352.6(ABCC8):c.3303A>G (p.Leu1101=)
|
rs760668370
|
0.00002
|
NM_000352.6(ABCC8):c.3329+8T>C
|
rs912178241
|
0.00002
|
NM_000352.6(ABCC8):c.3486G>T (p.Val1162=)
|
rs151203959
|
0.00002
|
NM_000352.6(ABCC8):c.3517G>A (p.Val1173Met)
|
rs141322087
|
0.00002
|
NM_000352.6(ABCC8):c.3557+20G>C
|
rs764779784
|
0.00002
|
NM_000352.6(ABCC8):c.3855C>T (p.Thr1285=)
|
rs56924677
|
0.00002
|
NM_000352.6(ABCC8):c.3877T>G (p.Tyr1293Asp)
|
rs368710356
|
0.00002
|
NM_000352.6(ABCC8):c.3960C>T (p.Thr1320=)
|
rs137868047
|
0.00002
|
NM_000352.6(ABCC8):c.4104C>T (p.Ile1368=)
|
rs1345535328
|
0.00002
|
NM_000352.6(ABCC8):c.414C>T (p.Ala138=)
|
rs372766371
|
0.00002
|
NM_000352.6(ABCC8):c.4297G>A (p.Gly1433Ser)
|
rs781090024
|
0.00002
|
NM_000352.6(ABCC8):c.4308-2A>G
|
rs886041391
|
0.00002
|
NM_000352.6(ABCC8):c.4359C>T (p.Ala1453=)
|
rs769435360
|
0.00002
|
NM_000352.6(ABCC8):c.4412-4T>G
|
rs1476016104
|
0.00002
|
NM_000352.6(ABCC8):c.4476C>T (p.Ala1492=)
|
rs776110275
|
0.00002
|
NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=)
|
rs773042150
|
0.00002
|
NM_000352.6(ABCC8):c.4608+9C>G
|
rs757297282
|
0.00002
|
NM_000352.6(ABCC8):c.702C>T (p.Asn234=)
|
rs758289249
|
0.00002
|
NM_000352.6(ABCC8):c.750C>T (p.Ile250=)
|
rs566527939
|
0.00002
|
NM_000352.6(ABCC8):c.813C>T (p.Asp271=)
|
rs569222899
|
0.00002
|
NM_000352.6(ABCC8):c.87C>T (p.Asp29=)
|
rs1166883099
|
0.00002
|
NM_000352.6(ABCC8):c.969C>T (p.Ile323=)
|
rs748659098
|
0.00002
|
NM_000352.4(ABCC8):c.-190C>G
|
rs1395224084
|
0.00001
|
NM_000352.6(ABCC8):c.1023C>T (p.Leu341=)
|
rs199592045
|
0.00001
|
NM_000352.6(ABCC8):c.103C>T (p.Pro35Ser)
|
rs1183465672
|
0.00001
|
NM_000352.6(ABCC8):c.1068C>T (p.Tyr356=)
|
rs776713811
|
0.00001
|
NM_000352.6(ABCC8):c.108C>T (p.His36=)
|
rs757935183
|
0.00001
|
NM_000352.6(ABCC8):c.1095C>T (p.Ala365=)
|
rs1256418853
|
0.00001
|
NM_000352.6(ABCC8):c.1176+2T>C
|
rs750586210
|
0.00001
|
NM_000352.6(ABCC8):c.1176+8G>C
|
rs368435632
|
0.00001
|
NM_000352.6(ABCC8):c.1177-1G>A
|
rs1167993548
|
0.00001
|
NM_000352.6(ABCC8):c.1183A>T (p.Ile395Phe)
|
rs542947894
|
0.00001
|
NM_000352.6(ABCC8):c.1203C>T (p.His401=)
|
rs1591846346
|
0.00001
|
NM_000352.6(ABCC8):c.1212C>T (p.Thr404=)
|
rs138386829
|
0.00001
|
NM_000352.6(ABCC8):c.1242T>C (p.Ala414=)
|
rs563592305
|
0.00001
|
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter)
|
rs768951263
|
0.00001
|
NM_000352.6(ABCC8):c.126C>T (p.Ile42=)
|
rs369059273
|
0.00001
|
NM_000352.6(ABCC8):c.1332+7G>C
|
rs1380934116
|
0.00001
|
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)
|
rs760062120
|
0.00001
|
NM_000352.6(ABCC8):c.134C>T (p.Pro45Leu)
|
rs267606623
|
0.00001
|
NM_000352.6(ABCC8):c.1392A>G (p.Ala464=)
|
rs781312990
|
0.00001
|
NM_000352.6(ABCC8):c.1434C>T (p.Ala478=)
|
rs200303681
|
0.00001
|
NM_000352.6(ABCC8):c.1467+9C>T
|
rs774224706
|
0.00001
|
NM_000352.6(ABCC8):c.148+13A>C
|
rs773823246
|
0.00001
|
NM_000352.6(ABCC8):c.1483C>T (p.Arg495Trp)
|
rs775894336
|
0.00001
|
NM_000352.6(ABCC8):c.149-8C>T
|
rs1480852254
|
0.00001
|
NM_000352.6(ABCC8):c.1497C>G (p.Thr499=)
|
rs745884500
|
0.00001
|
NM_000352.6(ABCC8):c.1500C>T (p.Asn500=)
|
rs779078905
|
0.00001
|
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=)
|
rs148811815
|
0.00001
|
NM_000352.6(ABCC8):c.1527G>A (p.Leu509=)
|
rs765924728
|
0.00001
|
NM_000352.6(ABCC8):c.1531C>G (p.Leu511Val)
|
rs773345085
|
0.00001
|
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro)
|
rs797045206
|
0.00001
|
NM_000352.6(ABCC8):c.1551C>T (p.Ile517=)
|
rs1279186188
|
0.00001
|
NM_000352.6(ABCC8):c.1560G>A (p.Thr520=)
|
rs771102562
|
0.00001
|
NM_000352.6(ABCC8):c.1563G>A (p.Arg521=)
|
rs1481558083
|
0.00001
|
NM_000352.6(ABCC8):c.1576C>T (p.Arg526Cys)
|
rs751279984
|
0.00001
|
NM_000352.6(ABCC8):c.1581G>A (p.Arg527=)
|
rs750360514
|
0.00001
|
NM_000352.6(ABCC8):c.1608T>C (p.Phe536=)
|
rs753618932
|
0.00001
|
NM_000352.6(ABCC8):c.1620C>T (p.Thr540=)
|
rs199822807
|
0.00001
|
NM_000352.6(ABCC8):c.1630+1G>T
|
rs773306994
|
0.00001
|
NM_000352.6(ABCC8):c.165C>T (p.Ser55=)
|
rs1591928903
|
0.00001
|
NM_000352.6(ABCC8):c.1677C>T (p.Phe559=)
|
rs772622250
|
0.00001
|
NM_000352.6(ABCC8):c.1683C>T (p.Gly561=)
|
rs770543163
|
0.00001
|
NM_000352.6(ABCC8):c.1692C>T (p.Ser564=)
|
rs777182988
|
0.00001
|
NM_000352.6(ABCC8):c.170A>G (p.Lys57Arg)
|
rs762919223
|
0.00001
|
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)
|
rs757650373
|
0.00001
|
NM_000352.6(ABCC8):c.1779G>A (p.Leu593=)
|
rs538435990
|
0.00001
|
NM_000352.6(ABCC8):c.1801G>A (p.Val601Ile)
|
rs1955813180
|
0.00001
|
NM_000352.6(ABCC8):c.1817+7G>A
|
rs748084178
|
0.00001
|
NM_000352.6(ABCC8):c.1818-7C>T
|
rs17846731
|
0.00001
|
NM_000352.6(ABCC8):c.1830A>G (p.Leu610=)
|
rs150839950
|
0.00001
|
NM_000352.6(ABCC8):c.1833C>T (p.Ser611=)
|
rs763273046
|
0.00001
|
NM_000352.6(ABCC8):c.1869G>A (p.Gln623=)
|
rs1487225445
|
0.00001
|
NM_000352.6(ABCC8):c.1924-9C>T
|
rs1218098329
|
0.00001
|
NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val)
|
rs149400972
|
0.00001
|
NM_000352.6(ABCC8):c.1980C>T (p.Thr660=)
|
rs766374930
|
0.00001
|
NM_000352.6(ABCC8):c.2022T>C (p.Ala674=)
|
rs371724951
|
0.00001
|
NM_000352.6(ABCC8):c.2061G>A (p.Thr687=)
|
rs1236747090
|
0.00001
|
NM_000352.6(ABCC8):c.2116+2T>C
|
rs786204676
|
0.00001
|
NM_000352.6(ABCC8):c.2145G>A (p.Val715=)
|
rs1258771829
|
0.00001
|
NM_000352.6(ABCC8):c.2169T>C (p.Leu723=)
|
rs1591794603
|
0.00001
|
NM_000352.6(ABCC8):c.2175C>T (p.Ala725=)
|
rs140109097
|
0.00001
|
NM_000352.6(ABCC8):c.2202del (p.Ala736fs)
|
rs1554924035
|
0.00001
|
NM_000352.6(ABCC8):c.2209G>A (p.Val737Ile)
|
rs376206979
|
0.00001
|
NM_000352.6(ABCC8):c.220C>T (p.Arg74Trp)
|
rs201682634
|
0.00001
|
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)
|
rs72559734
|
0.00001
|
NM_000352.6(ABCC8):c.2222+8A>G
|
rs200118912
|
0.00001
|
NM_000352.6(ABCC8):c.2223-4G>T
|
rs1040460617
|
0.00001
|
NM_000352.6(ABCC8):c.2226T>C (p.Leu742=)
|
rs757507467
|
0.00001
|
NM_000352.6(ABCC8):c.222G>T (p.Arg74=)
|
rs745544561
|
0.00001
|
NM_000352.6(ABCC8):c.2232C>T (p.Asp744=)
|
rs1421469992
|
0.00001
|
NM_000352.6(ABCC8):c.2236G>A (p.Glu746Lys)
|
rs753296261
|
0.00001
|
NM_000352.6(ABCC8):c.2270C>G (p.Thr757Arg)
|
rs757961130
|
0.00001
|
NM_000352.6(ABCC8):c.228C>T (p.Ile76=)
|
rs773812588
|
0.00001
|
NM_000352.6(ABCC8):c.2291+7C>T
|
rs770152618
|
0.00001
|
NM_000352.6(ABCC8):c.2291+8G>A
|
rs748169568
|
0.00001
|
NM_000352.6(ABCC8):c.231G>A (p.Leu77=)
|
rs995709683
|
0.00001
|
NM_000352.6(ABCC8):c.2487G>A (p.Leu829=)
|
rs550307286
|
0.00001
|
NM_000352.6(ABCC8):c.2490T>C (p.Ser830=)
|
rs1348144308
|
0.00001
|
NM_000352.6(ABCC8):c.250G>A (p.Val84Ile)
|
rs775776658
|
0.00001
|
NM_000352.6(ABCC8):c.2521C>T (p.Arg841Ter)
|
rs1484689392
|
0.00001
|
NM_000352.6(ABCC8):c.2556+1G>T
|
rs749271190
|
0.00001
|
NM_000352.6(ABCC8):c.255G>A (p.Leu85=)
|
rs1323334420
|
0.00001
|
NM_000352.6(ABCC8):c.2619T>G (p.Leu873=)
|
rs756718678
|
0.00001
|
NM_000352.6(ABCC8):c.2652C>G (p.Val884=)
|
rs749936649
|
0.00001
|
NM_000352.6(ABCC8):c.2694+15G>A
|
rs886048051
|
0.00001
|
NM_000352.6(ABCC8):c.2695-1G>C
|
rs1057517420
|
0.00001
|
NM_000352.6(ABCC8):c.2751G>A (p.Gln917=)
|
rs769982482
|
0.00001
|
NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln)
|
rs745591375
|
0.00001
|
NM_000352.6(ABCC8):c.279C>A (p.Ile93=)
|
rs550990673
|
0.00001
|
NM_000352.6(ABCC8):c.2820+7A>G
|
rs752517462
|
0.00001
|
NM_000352.6(ABCC8):c.282G>C (p.Leu94=)
|
rs757467422
|
0.00001
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
NM_000352.6(ABCC8):c.288T>C (p.Asp96=)
|
rs754396065
|
0.00001
|
NM_000352.6(ABCC8):c.291-8C>T
|
rs370095966
|
0.00001
|
NM_000352.6(ABCC8):c.2916G>A (p.Glu972=)
|
rs1954592292
|
0.00001
|
NM_000352.6(ABCC8):c.2921-10C>T
|
rs774744232
|
0.00001
|
NM_000352.6(ABCC8):c.2937C>T (p.Ser979=)
|
rs780868010
|
0.00001
|
NM_000352.6(ABCC8):c.2973G>A (p.Gln991=)
|
rs369865194
|
0.00001
|
NM_000352.6(ABCC8):c.297C>T (p.Thr99=)
|
rs906180828
|
0.00001
|
NM_000352.6(ABCC8):c.2982G>A (p.Glu994=)
|
rs763160961
|
0.00001
|
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)
|
rs769518471
|
0.00001
|
NM_000352.6(ABCC8):c.3027C>T (p.Ile1009=)
|
rs751662850
|
0.00001
|
NM_000352.6(ABCC8):c.3033C>A (p.Leu1011=)
|
rs1366552614
|
0.00001
|
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu)
|
rs775087568
|
0.00001
|
NM_000352.6(ABCC8):c.30C>T (p.Asn10=)
|
rs1284894054
|
0.00001
|
NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=)
|
rs1387302006
|
0.00001
|
NM_000352.6(ABCC8):c.3189T>C (p.Tyr1063=)
|
rs751097386
|
0.00001
|
NM_000352.6(ABCC8):c.3228G>T (p.Val1076=)
|
rs368587840
|
0.00001
|
NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=)
|
rs771538281
|
0.00001
|
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)
|
rs761749884
|
0.00001
|
NM_000352.6(ABCC8):c.333G>A (p.Gly111=)
|
rs1410838503
|
0.00001
|
NM_000352.6(ABCC8):c.3375A>G (p.Ser1125=)
|
rs1954474434
|
0.00001
|
NM_000352.6(ABCC8):c.3393C>T (p.Ile1131=)
|
rs776975807
|
0.00001
|
NM_000352.6(ABCC8):c.339G>A (p.Ala113=)
|
rs1161988958
|
0.00001
|
NM_000352.6(ABCC8):c.3455C>T (p.Ala1152Val)
|
rs1354859002
|
0.00001
|
NM_000352.6(ABCC8):c.3489C>T (p.Phe1163=)
|
rs1456297535
|
0.00001
|
NM_000352.6(ABCC8):c.3537G>A (p.Lys1179=)
|
rs146574155
|
0.00001
|
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)
|
rs797045209
|
0.00001
|
NM_000352.6(ABCC8):c.3552G>A (p.Ala1184=)
|
rs144207158
|
0.00001
|
NM_000352.6(ABCC8):c.3558-8C>T
|
rs544550330
|
0.00001
|
NM_000352.6(ABCC8):c.3594A>G (p.Pro1198=)
|
rs1242456806
|
0.00001
|
NM_000352.6(ABCC8):c.3606C>T (p.His1202=)
|
rs1288677984
|
0.00001
|
NM_000352.6(ABCC8):c.360C>T (p.Ser120=)
|
rs1374113973
|
0.00001
|
NM_000352.6(ABCC8):c.3619G>A (p.Val1207Ile)
|
rs1227230033
|
0.00001
|
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln)
|
rs367850779
|
0.00001
|
NM_000352.6(ABCC8):c.3651-1G>C
|
rs768820409
|
0.00001
|
NM_000352.6(ABCC8):c.3654T>C (p.Tyr1218=)
|
rs769968875
|
0.00001
|
NM_000352.6(ABCC8):c.3658G>A (p.Ala1220Thr)
|
rs1320499455
|
0.00001
|
NM_000352.6(ABCC8):c.3681C>T (p.Leu1227=)
|
rs370636988
|
0.00001
|
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter)
|
rs1057516281
|
0.00001
|
NM_000352.6(ABCC8):c.3759C>T (p.Tyr1253=)
|
rs1005064056
|
0.00001
|
NM_000352.6(ABCC8):c.3762C>T (p.Ile1254=)
|
rs761017115
|
0.00001
|
NM_000352.6(ABCC8):c.3783C>T (p.Ile1261=)
|
rs1489516654
|
0.00001
|
NM_000352.6(ABCC8):c.3784G>A (p.Ala1262Thr)
|
rs1266053680
|
0.00001
|
NM_000352.6(ABCC8):c.3788C>T (p.Ala1263Val)
|
rs772094360
|
0.00001
|
NM_000352.6(ABCC8):c.382G>A (p.Glu128Lys)
|
rs781617345
|
0.00001
|
NM_000352.6(ABCC8):c.3868-1G>A
|
rs766431403
|
0.00001
|
NM_000352.6(ABCC8):c.3868-5C>T
|
rs1591715618
|
0.00001
|
NM_000352.6(ABCC8):c.3868-6C>A
|
rs751658705
|
0.00001
|
NM_000352.6(ABCC8):c.3909C>T (p.Asp1303=)
|
rs1015622529
|
0.00001
|
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=)
|
rs765708759
|
0.00001
|
NM_000352.6(ABCC8):c.3988+14G>A
|
rs770990642
|
0.00001
|
NM_000352.6(ABCC8):c.3988+2T>C
|
rs745349258
|
0.00001
|
NM_000352.6(ABCC8):c.3989-10C>T
|
rs373737642
|
0.00001
|
NM_000352.6(ABCC8):c.4023A>G (p.Gln1341=)
|
rs1015735730
|
0.00001
|
NM_000352.6(ABCC8):c.4032C>T (p.Ile1344=)
|
rs1230698351
|
0.00001
|
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=)
|
rs547430068
|
0.00001
|
NM_000352.6(ABCC8):c.4092C>T (p.Val1364=)
|
rs150151029
|
0.00001
|
NM_000352.6(ABCC8):c.4095T>C (p.Asn1365=)
|
rs1207446214
|
0.00001
|
NM_000352.6(ABCC8):c.4119+10C>T
|
rs201955628
|
0.00001
|
NM_000352.6(ABCC8):c.412+7G>A
|
rs902557011
|
0.00001
|
NM_000352.6(ABCC8):c.413-6C>T
|
rs373759803
|
0.00001
|
NM_000352.6(ABCC8):c.4131C>T (p.Cys1377=)
|
rs541612031
|
0.00001
|
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser)
|
rs137852673
|
0.00001
|
NM_000352.6(ABCC8):c.4136G>A (p.Arg1379His)
|
rs193922401
|
0.00001
|
NM_000352.6(ABCC8):c.4147G>A (p.Gly1383Arg)
|
rs748233295
|
0.00001
|
NM_000352.6(ABCC8):c.4157C>T (p.Ser1386Phe)
|
rs72559718
|
0.00001
|
NM_000352.6(ABCC8):c.4191G>A (p.Thr1397=)
|
rs758767782
|
0.00001
|
NM_000352.6(ABCC8):c.4194C>T (p.Phe1398=)
|
rs746249607
|
0.00001
|
NM_000352.6(ABCC8):c.4225A>G (p.Ile1409Val)
|
rs776100468
|
0.00001
|
NM_000352.6(ABCC8):c.4230C>T (p.Ala1410=)
|
rs1471646541
|
0.00001
|
NM_000352.6(ABCC8):c.4236G>A (p.Leu1412=)
|
rs965734923
|
0.00001
|
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys)
|
rs1468762603
|
0.00001
|
NM_000352.6(ABCC8):c.428G>A (p.Trp143Ter)
|
rs1395990892
|
0.00001
|
NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=)
|
rs752222583
|
0.00001
|
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)
|
rs193922402
|
0.00001
|
NM_000352.6(ABCC8):c.4307+10A>G
|
rs994328816
|
0.00001
|
NM_000352.6(ABCC8):c.4307+8C>G
|
rs1448472548
|
0.00001
|
NM_000352.6(ABCC8):c.4314C>T (p.Asn1438=)
|
rs752809991
|
0.00001
|
NM_000352.6(ABCC8):c.4342A>G (p.Ser1448Gly)
|
rs374703754
|
0.00001
|
NM_000352.6(ABCC8):c.4344C>T (p.Ser1448=)
|
rs1156980364
|
0.00001
|
NM_000352.6(ABCC8):c.4347A>G (p.Thr1449=)
|
rs1953848786
|
0.00001
|
NM_000352.6(ABCC8):c.4350G>A (p.Leu1450=)
|
rs763277685
|
0.00001
|
NM_000352.6(ABCC8):c.4369G>A (p.Ala1457Thr)
|
rs72559717
|
0.00001
|
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg)
|
rs971604271
|
0.00001
|
NM_000352.6(ABCC8):c.4389G>A (p.Val1463=)
|
rs1014389339
|
0.00001
|
NM_000352.6(ABCC8):c.4411+9T>C
|
rs754903921
|
0.00001
|
NM_000352.6(ABCC8):c.4411G>A (p.Asp1471Asn)
|
rs72559716
|
0.00001
|
NM_000352.6(ABCC8):c.441C>T (p.Phe147=)
|
rs1847961858
|
0.00001
|
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)
|
rs72559715
|
0.00001
|
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)
|
rs28936371
|
0.00001
|
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)
|
rs746480424
|
0.00001
|
NM_000352.6(ABCC8):c.4478G>T (p.Arg1493Leu)
|
rs746480424
|
0.00001
|
NM_000352.6(ABCC8):c.4485C>T (p.Phe1495=)
|
rs267602801
|
0.00001
|
NM_000352.6(ABCC8):c.4497C>G (p.Thr1499=)
|
rs1388321223
|
0.00001
|
NM_000352.6(ABCC8):c.4524G>A (p.Thr1508=)
|
rs553746345
|
0.00001
|
NM_000352.6(ABCC8):c.4545+9T>C
|
rs775018351
|
0.00001
|
NM_000352.6(ABCC8):c.4569G>A (p.Val1523=)
|
rs1953753838
|
0.00001
|
NM_000352.6(ABCC8):c.4588C>T (p.Arg1530Cys)
|
rs148808854
|
0.00001
|
NM_000352.6(ABCC8):c.459G>A (p.Lys153=)
|
rs1847959301
|
0.00001
|
NM_000352.6(ABCC8):c.4607C>T (p.Ala1536Val)
|
rs745918247
|
0.00001
|
NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=)
|
rs1439464815
|
0.00001
|
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)
|
rs72559713
|
0.00001
|
NM_000352.6(ABCC8):c.4653G>A (p.Leu1551=)
|
rs17846721
|
0.00001
|
NM_000352.6(ABCC8):c.4713C>T (p.Ser1571=)
|
rs747402972
|
0.00001
|
NM_000352.6(ABCC8):c.4720G>A (p.Ala1574Thr)
|
rs199736860
|
0.00001
|
NM_000352.6(ABCC8):c.4722C>T (p.Ala1574=)
|
rs1237790382
|
0.00001
|
NM_000352.6(ABCC8):c.487G>A (p.Gly163Ser)
|
rs574487898
|
0.00001
|
NM_000352.6(ABCC8):c.48G>A (p.Arg16=)
|
rs750383415
|
0.00001
|
NM_000352.6(ABCC8):c.502C>T (p.Arg168Cys)
|
rs756823374
|
0.00001
|
NM_000352.6(ABCC8):c.504C>T (p.Arg168=)
|
rs139224499
|
0.00001
|
NM_000352.6(ABCC8):c.507C>T (p.Phe169=)
|
rs755745806
|
0.00001
|
NM_000352.6(ABCC8):c.510C>T (p.Cys170=)
|
rs752679178
|
0.00001
|
NM_000352.6(ABCC8):c.513C>T (p.Leu171=)
|
rs767395738
|
0.00001
|
NM_000352.6(ABCC8):c.519G>C (p.Gly173=)
|
rs759354601
|
0.00001
|
NM_000352.6(ABCC8):c.537T>C (p.Tyr179=)
|
rs761881203
|
0.00001
|
NM_000352.6(ABCC8):c.564T>C (p.Asn188=)
|
rs1410002309
|
0.00001
|
NM_000352.6(ABCC8):c.573G>A (p.Arg191=)
|
rs1246132765
|
0.00001
|
NM_000352.6(ABCC8):c.579+9G>A
|
rs776165640
|
0.00001
|
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu)
|
rs933815442
|
0.00001
|
NM_000352.6(ABCC8):c.63C>T (p.Val21=)
|
rs1848805383
|
0.00001
|
NM_000352.6(ABCC8):c.642G>A (p.Gly214=)
|
rs767485742
|
0.00001
|
NM_000352.6(ABCC8):c.660C>T (p.Pro220=)
|
rs773643362
|
0.00001
|
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)
|
rs768017509
|
0.00001
|
NM_000352.6(ABCC8):c.690C>T (p.Tyr230=)
|
rs1431845959
|
0.00001
|
NM_000352.6(ABCC8):c.693G>A (p.Trp231Ter)
|
rs1957198348
|
0.00001
|
NM_000352.6(ABCC8):c.705C>T (p.Ala235=)
|
rs927085380
|
0.00001
|
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)
|
rs72559730
|
0.00001
|
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)
|
rs1462559571
|
0.00001
|
NM_000352.6(ABCC8):c.793C>T (p.Arg265Trp)
|
rs1057524701
|
0.00001
|
NM_000352.6(ABCC8):c.885C>T (p.Phe295=)
|
rs778990778
|
0.00001
|
NM_000352.6(ABCC8):c.894C>A (p.Arg298=)
|
rs375094504
|
0.00001
|
NM_000352.6(ABCC8):c.927C>T (p.Ala309=)
|
rs543571996
|
0.00001
|
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn)
|
rs769569410
|
0.00001
|
NM_000352.6(ABCC8):c.933G>C (p.Leu311=)
|
rs776498313
|
0.00001
|
NM_000352.6(ABCC8):c.970G>A (p.Val324Met)
|
rs1328072266
|
0.00001
|
NM_000352.6(ABCC8):c.985A>T (p.Lys329Ter)
|
rs1957147183
|
0.00001
|
NM_000352.6(ABCC8):c.987G>A (p.Lys329=)
|
rs1216809389
|
0.00001
|
NM_000352.6(ABCC8):c.993C>T (p.Asn331=)
|
rs752188418
|
0.00001
|
NC_000011.10:g.(?_17416920)_(17432254_?)del
|
|
|
NC_000011.10:g.17395719del
|
rs2133401493
|
|
NC_000011.9:g.(?_17414433)_(17438525_?)del
|
|
|
NC_000011.9:g.(?_17433888)_(17434943_?)del
|
|
|
NC_000011.9:g.(?_17448586)_(17453801_?)del
|
|
|
NC_000011.9:g.(?_17464257)_(17464869_?)del
|
|
|
NC_000011.9:g.(?_17464257)_(17474840_?)del
|
|
|
NC_000011.9:g.(?_17482025)_(17498513_?)del
|
|
|
NM_000352.3:c.85_1011+8del
|
|
|
NM_000352.6(ABCC8):c.-64C>G
|
|
|
NM_000352.6(ABCC8):c.-9_1dup (p.Met1fs)
|
|
|
NM_000352.6(ABCC8):c.1003C>T (p.Gln335Ter)
|
rs2133674070
|
|
NM_000352.6(ABCC8):c.1008C>A (p.Pro336=)
|
rs1199327855
|
|
NM_000352.6(ABCC8):c.1008C>G (p.Pro336=)
|
|
|
NM_000352.6(ABCC8):c.1011+11C>T
|
|
|
NM_000352.6(ABCC8):c.1011+12C>A
|
|
|
NM_000352.6(ABCC8):c.1011+12C>T
|
|
|
NM_000352.6(ABCC8):c.1011+15G>C
|
|
|
NM_000352.6(ABCC8):c.1011+16G>T
|
|
|
NM_000352.6(ABCC8):c.1011+17del
|
|
|
NM_000352.6(ABCC8):c.1011+1G>A
|
|
|
NM_000352.6(ABCC8):c.1011+1G>T
|
rs2133673996
|
|
NM_000352.6(ABCC8):c.1011+20G>A
|
|
|
NM_000352.6(ABCC8):c.1012-16C>T
|
|
|
NM_000352.6(ABCC8):c.1012-17A>T
|
|
|
NM_000352.6(ABCC8):c.1012-19G>A
|
|
|
NM_000352.6(ABCC8):c.1012-19G>T
|
|
|
NM_000352.6(ABCC8):c.1012-20T>C
|
|
|
NM_000352.6(ABCC8):c.1012-6C>T
|
rs764178736
|
|
NM_000352.6(ABCC8):c.1015C>A (p.Gln339Lys)
|
rs2133642509
|
|
NM_000352.6(ABCC8):c.1017A>G (p.Gln339=)
|
|
|
NM_000352.6(ABCC8):c.1041A>C (p.Ser347=)
|
|
|
NM_000352.6(ABCC8):c.1059C>T (p.Ala353=)
|
|
|
NM_000352.6(ABCC8):c.105G>C (p.Pro35=)
|
rs199925058
|
|
NM_000352.6(ABCC8):c.1062T>C (p.Asn354=)
|
|
|
NM_000352.6(ABCC8):c.1065C>T (p.Ala355=)
|
rs2133642194
|
|
NM_000352.6(ABCC8):c.1068C>G (p.Tyr356Ter)
|
|
|
NM_000352.6(ABCC8):c.1072T>C (p.Leu358=)
|
|
|
NM_000352.6(ABCC8):c.1074A>G (p.Leu358=)
|
|
|
NM_000352.6(ABCC8):c.1080G>A (p.Val360=)
|
rs2133642076
|
|
NM_000352.6(ABCC8):c.1086G>A (p.Leu362=)
|
|
|
NM_000352.6(ABCC8):c.1098C>T (p.Leu366=)
|
rs2133641985
|
|
NM_000352.6(ABCC8):c.1099C>T (p.Leu367=)
|
|
|
NM_000352.6(ABCC8):c.1106A>G (p.Gln369Arg)
|
rs756808492
|
|
NM_000352.6(ABCC8):c.1113A>G (p.Thr371=)
|
rs2133641898
|
|
NM_000352.6(ABCC8):c.1119G>C (p.Leu373=)
|
|
|
NM_000352.6(ABCC8):c.111C>A (p.Val37=)
|
rs2133737414
|
|
NM_000352.6(ABCC8):c.1125A>G (p.Ala375=)
|
|
|
NM_000352.6(ABCC8):c.1138_1139delinsAA (p.Ala380Asn)
|
|
|
NM_000352.6(ABCC8):c.1140C>T (p.Ala380=)
|
|
|
NM_000352.6(ABCC8):c.1143T>C (p.Ile381=)
|
rs752694285
|
|
NM_000352.6(ABCC8):c.1149T>C (p.Thr383=)
|
|
|
NM_000352.6(ABCC8):c.1159T>C (p.Leu387=)
|
rs2133641674
|
|
NM_000352.6(ABCC8):c.1168G>A (p.Ala390Thr)
|
|
|
NM_000352.6(ABCC8):c.1176+10T>A
|
rs762053701
|
|
NM_000352.6(ABCC8):c.1176+10T>C
|
|
|
NM_000352.6(ABCC8):c.1176+16T>C
|
|
|
NM_000352.6(ABCC8):c.1176+85C>T
|
rs189603359
|
|
NM_000352.6(ABCC8):c.1177-13C>T
|
|
|
NM_000352.6(ABCC8):c.1177-14G>T
|
|
|
NM_000352.6(ABCC8):c.1177-168A>G
|
rs77466400
|
|
NM_000352.6(ABCC8):c.1177-1G>C
|
|
|
NM_000352.6(ABCC8):c.1177-53G>C
|
rs2133617921
|
|
NM_000352.6(ABCC8):c.1177-53_1177-42del
|
rs1306338725
|
|
NM_000352.6(ABCC8):c.1177-53_1177-51del
|
rs1271038564
|
|
NM_000352.6(ABCC8):c.1177-8A>G
|
rs1157706102
|
|
NM_000352.6(ABCC8):c.1178C>T (p.Thr393Ile)
|
rs377104807
|
|
NM_000352.6(ABCC8):c.117A>G (p.Leu39=)
|
rs750318681
|
|
NM_000352.6(ABCC8):c.1188C>T (p.Tyr396=)
|
rs2133617586
|
|
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg)
|
rs1554949242
|
|
NM_000352.6(ABCC8):c.1204C>T (p.Leu402=)
|
|
|
NM_000352.6(ABCC8):c.120C>A (p.Leu40=)
|
|
|
NM_000352.6(ABCC8):c.120C>G (p.Leu40=)
|
|
|
NM_000352.6(ABCC8):c.1220T>A (p.Leu407Gln)
|
rs1564955834
|
|
NM_000352.6(ABCC8):c.1223C>A (p.Ser408Tyr)
|
|
|
NM_000352.6(ABCC8):c.1248G>A (p.Gln416=)
|
|
|
NM_000352.6(ABCC8):c.1258C>T (p.Leu420=)
|
|
|
NM_000352.6(ABCC8):c.1261G>T (p.Val421Phe)
|
|
|
NM_000352.6(ABCC8):c.1266C>T (p.Ala422=)
|
|
|
NM_000352.6(ABCC8):c.1269C>T (p.Ile423=)
|
rs370169777
|
|
NM_000352.6(ABCC8):c.1272C>T (p.Asp424=)
|
rs2133617086
|
|
NM_000352.6(ABCC8):c.1275C>T (p.Thr425=)
|
rs2133617056
|
|
NM_000352.6(ABCC8):c.1277A>G (p.Asn426Ser)
|
|
|
NM_000352.6(ABCC8):c.1284C>T (p.Leu428=)
|
|
|
NM_000352.6(ABCC8):c.1296C>T (p.Phe432=)
|
rs1591845922
|
|
NM_000352.6(ABCC8):c.1302G>A (p.Leu434=)
|
|
|
NM_000352.6(ABCC8):c.1314C>G (p.Leu438=)
|
|
|
NM_000352.6(ABCC8):c.1329A>G (p.Val443=)
|
|
|
NM_000352.6(ABCC8):c.132C>T (p.Phe44=)
|
|
|
NM_000352.6(ABCC8):c.1330C>T (p.Gln444Ter)
|
rs2133616750
|
|
NM_000352.6(ABCC8):c.1332+11G>C
|
|
|
NM_000352.6(ABCC8):c.1332+13C>T
|
|
|
NM_000352.6(ABCC8):c.1332+17G>C
|
rs193922395
|
|
NM_000352.6(ABCC8):c.1332+19G>A
|
|
|
NM_000352.6(ABCC8):c.1333-1013A>G
|
rs980458021
|
|
NM_000352.6(ABCC8):c.1333-1186T>G
|
rs886292
|
|
NM_000352.6(ABCC8):c.1333-20A>C
|
|
|
NM_000352.6(ABCC8):c.1333-328G>A
|
rs59138800
|
|
NM_000352.6(ABCC8):c.1333-4T>C
|
|
|
NM_000352.6(ABCC8):c.1333-725CT[12]
|
rs112019394
|
|
NM_000352.6(ABCC8):c.1344T>C (p.Gly448=)
|
rs2133597932
|
|
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs)
|
rs1554933565
|
|
NM_000352.6(ABCC8):c.1353C>T (p.Leu451=)
|
rs2133597877
|
|
NM_000352.6(ABCC8):c.135C>T (p.Pro45=)
|
rs763901452
|
|
NM_000352.6(ABCC8):c.1363A>G (p.Ile455Val)
|
|
|
NM_000352.6(ABCC8):c.1368C>G (p.Leu456=)
|
|
|
NM_000352.6(ABCC8):c.1369G>T (p.Gly457Ter)
|
rs771959876
|
|
NM_000352.6(ABCC8):c.1391C>T (p.Ala464Val)
|
rs1554933525
|
|
NM_000352.6(ABCC8):c.1401C>T (p.Ile467=)
|
|
|
NM_000352.6(ABCC8):c.1412C>A (p.Ala471Asp)
|
|
|
NM_000352.6(ABCC8):c.1416T>C (p.Pro472=)
|
rs1391155490
|
|
NM_000352.6(ABCC8):c.141C>T (p.Leu47=)
|
|
|
NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg)
|
rs1591834223
|
|
NM_000352.6(ABCC8):c.1428C>T (p.Phe476=)
|
rs867541142
|
|
NM_000352.6(ABCC8):c.1431G>A (p.Val477=)
|
|
|
NM_000352.6(ABCC8):c.1437del (p.Lys480fs)
|
|
|
NM_000352.6(ABCC8):c.144C>T (p.Phe48=)
|
rs1591934251
|
|
NM_000352.6(ABCC8):c.1452_1461del (p.Gln485fs)
|
|
|
NM_000352.6(ABCC8):c.1453C>T (p.Gln485Ter)
|
rs1956391008
|
|
NM_000352.6(ABCC8):c.1455G>A (p.Gln485=)
|
rs2133597391
|
|
NM_000352.6(ABCC8):c.1456C>T (p.Arg486Trp)
|
|
|
NM_000352.6(ABCC8):c.1458G>A (p.Arg486=)
|
|
|
NM_000352.6(ABCC8):c.145A>G (p.Ile49Val)
|
rs1554949196
|
|
NM_000352.6(ABCC8):c.1465C>T (p.Leu489=)
|
rs374289323
|
|
NM_000352.6(ABCC8):c.1467+12A>G
|
|
|
NM_000352.6(ABCC8):c.1467+15G>A
|
|
|
NM_000352.6(ABCC8):c.1467+15G>T
|
|
|
NM_000352.6(ABCC8):c.1467+16T>G
|
|
|
NM_000352.6(ABCC8):c.1467+8C>G
|
rs1218507375
|
|
NM_000352.6(ABCC8):c.1468-10A>G
|
rs769767231
|
|
NM_000352.6(ABCC8):c.1468-10A>T
|
rs769767231
|
|
NM_000352.6(ABCC8):c.1468-15C>G
|
|
|
NM_000352.6(ABCC8):c.1468-15C>T
|
|
|
NM_000352.6(ABCC8):c.1468-16T>A
|
|
|
NM_000352.6(ABCC8):c.1468-48G>A
|
|
|
NM_000352.6(ABCC8):c.1468-4G>A
|
rs2133596225
|
|
NM_000352.6(ABCC8):c.1468-7C>T
|
|
|
NM_000352.6(ABCC8):c.1468-8C>T
|
|
|
NM_000352.6(ABCC8):c.1468-9C>A
|
|
|
NM_000352.6(ABCC8):c.1468-9C>G
|
|
|
NM_000352.6(ABCC8):c.1470G>A (p.Glu490=)
|
rs1023614861
|
|
NM_000352.6(ABCC8):c.1473T>G (p.Tyr491Ter)
|
|
|
NM_000352.6(ABCC8):c.1476C>T (p.Ser492=)
|
rs1956374784
|
|
NM_000352.6(ABCC8):c.148+11G>A
|
|
|
NM_000352.6(ABCC8):c.148+11G>C
|
|
|
NM_000352.6(ABCC8):c.148+11G>T
|
|
|
NM_000352.6(ABCC8):c.148+12C>G
|
|
|
NM_000352.6(ABCC8):c.148+16G>A
|
|
|
NM_000352.6(ABCC8):c.148+16G>T
|
|
|
NM_000352.6(ABCC8):c.148+19C>A
|
|
|
NM_000352.6(ABCC8):c.148+1del
|
rs2133737085
|
|
NM_000352.6(ABCC8):c.148+20C>G
|
|
|
NM_000352.6(ABCC8):c.148+2T>C
|
rs1554949176
|
|
NM_000352.6(ABCC8):c.148+2T>G
|
rs1554949176
|
|
NM_000352.6(ABCC8):c.148+7G>A
|
rs2133737034
|
|
NM_000352.6(ABCC8):c.148+8C>A
|
|
|
NM_000352.6(ABCC8):c.148+8C>T
|
|
|
NM_000352.6(ABCC8):c.148+9G>A
|
|
|
NM_000352.6(ABCC8):c.148+9_148+10delinsTA
|
rs2133737010
|
|
NM_000352.6(ABCC8):c.1482G>A (p.Glu494=)
|
|
|
NM_000352.6(ABCC8):c.149-14G>A
|
|
|
NM_000352.6(ABCC8):c.149-15T>G
|
rs1469422468
|
|
NM_000352.6(ABCC8):c.149-5T>C
|
rs2133729391
|
|
NM_000352.6(ABCC8):c.149-7C>A
|
|
|
NM_000352.6(ABCC8):c.149-7C>T
|
|
|
NM_000352.6(ABCC8):c.1497C>T (p.Thr499=)
|
|
|
NM_000352.6(ABCC8):c.1502A>C (p.Glu501Ala)
|
|
|
NM_000352.6(ABCC8):c.1507C>T (p.Leu503Phe)
|
|
|
NM_000352.6(ABCC8):c.1511G>A (p.Arg504His)
|
|
|
NM_000352.6(ABCC8):c.1512C>G (p.Arg504=)
|
rs148811815
|
|
NM_000352.6(ABCC8):c.1513G>C (p.Gly505Arg)
|
|
|
NM_000352.6(ABCC8):c.152G>A (p.Trp51Ter)
|
rs1591928988
|
|
NM_000352.6(ABCC8):c.1530G>A (p.Lys510=)
|
rs762783893
|
|
NM_000352.6(ABCC8):c.1536C>A (p.Tyr512Ter)
|
rs765090096
|
|
NM_000352.6(ABCC8):c.1548C>T (p.Asn516=)
|
rs776590557
|
|
NM_000352.6(ABCC8):c.1553del (p.Phe518fs)
|
rs2133595741
|
|
NM_000352.6(ABCC8):c.1555C>T (p.Arg519Cys)
|
|
|
NM_000352.6(ABCC8):c.1572G>C (p.Thr524=)
|
|
|
NM_000352.6(ABCC8):c.1572G>T (p.Thr524=)
|
|
|
NM_000352.6(ABCC8):c.1575C>T (p.Thr525=)
|
|
|
NM_000352.6(ABCC8):c.1577G>A (p.Arg526His)
|
|
|
NM_000352.6(ABCC8):c.1577G>T (p.Arg526Leu)
|
rs144481621
|
|
NM_000352.6(ABCC8):c.1584G>A (p.Lys528=)
|
|
|
NM_000352.6(ABCC8):c.1587G>A (p.Glu529=)
|
rs2133595398
|
|
NM_000352.6(ABCC8):c.1593C>A (p.Thr531=)
|
rs2133595358
|
|
NM_000352.6(ABCC8):c.1593C>T (p.Thr531=)
|
rs2133595358
|
|
NM_000352.6(ABCC8):c.1598T>C (p.Leu533Pro)
|
rs1419269417
|
|
NM_000352.6(ABCC8):c.1599C>A (p.Leu533=)
|
|
|
NM_000352.6(ABCC8):c.159T>C (p.Ser53=)
|
|
|
NM_000352.6(ABCC8):c.15C>T (p.Phe5=)
|
rs2133738324
|
|
NM_000352.6(ABCC8):c.1602G>A (p.Arg534=)
|
rs1461602097
|
|
NM_000352.6(ABCC8):c.1605C>T (p.Ala535=)
|
rs886048055
|
|
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)
|
rs193922397
|
|
NM_000352.6(ABCC8):c.1617T>A (p.Tyr539Ter)
|
rs1591832463
|
|
NM_000352.6(ABCC8):c.1617T>C (p.Tyr539=)
|
rs1591832463
|
|
NM_000352.6(ABCC8):c.1630+10C>A
|
rs188075767
|
|
NM_000352.6(ABCC8):c.1630+15C>T
|
|
|
NM_000352.6(ABCC8):c.1630+16A>T
|
|
|
NM_000352.6(ABCC8):c.1630+17C>T
|
rs575209268
|
|
NM_000352.6(ABCC8):c.1630+7T>C
|
|
|
NM_000352.6(ABCC8):c.1630+8C>A
|
|
|
NM_000352.6(ABCC8):c.1630+9A>G
|
|
|
NM_000352.6(ABCC8):c.1631-10T>C
|
|
|
NM_000352.6(ABCC8):c.1631-10_1631-9insTAAACGCCTCCCTGTGCTTT
|
|
|
NM_000352.6(ABCC8):c.1631-13G>A
|
|
|
NM_000352.6(ABCC8):c.1631-13G>C
|
|
|
NM_000352.6(ABCC8):c.1631-19C>G
|
|
|
NM_000352.6(ABCC8):c.1631-4G>A
|
rs2133554706
|
|
NM_000352.6(ABCC8):c.1632T>A (p.Ile544=)
|
|
|
NM_000352.6(ABCC8):c.1634del (p.Phe545fs)
|
rs1260178539
|
|
NM_000352.6(ABCC8):c.1647C>T (p.Ala549=)
|
rs2133554603
|
|
NM_000352.6(ABCC8):c.1647del (p.Ile550fs)
|
rs2133554613
|
|
NM_000352.6(ABCC8):c.1665C>T (p.Val555=)
|
rs773212807
|
|
NM_000352.6(ABCC8):c.1671+11C>G
|
|
|
NM_000352.6(ABCC8):c.1671+8G>T
|
rs962553311
|
|
NM_000352.6(ABCC8):c.1672-12C>T
|
|
|
NM_000352.6(ABCC8):c.1672-13C>A
|
|
|
NM_000352.6(ABCC8):c.1672-13C>G
|
|
|
NM_000352.6(ABCC8):c.1672-15T>G
|
|
|
NM_000352.6(ABCC8):c.1672-16G>A
|
|
|
NM_000352.6(ABCC8):c.1672-20A>G
|
rs931436550
|
|
NM_000352.6(ABCC8):c.1672-20A>T
|
rs931436550
|
|
NM_000352.6(ABCC8):c.1672-5C>T
|
|
|
NM_000352.6(ABCC8):c.1676_1677delinsAA (p.Phe559Ter)
|
|
|
NM_000352.6(ABCC8):c.168C>T (p.Ser56=)
|
rs1848683459
|
|
NM_000352.6(ABCC8):c.1707C>G (p.Ala569=)
|
|
|
NM_000352.6(ABCC8):c.1716G>C (p.Ser572=)
|
rs750619309
|
|
NM_000352.6(ABCC8):c.1716G>T (p.Ser572=)
|
rs750619309
|
|
NM_000352.6(ABCC8):c.1719C>A (p.Pro573=)
|
rs2133549412
|
|
NM_000352.6(ABCC8):c.1719C>T (p.Pro573=)
|
rs2133549412
|
|
NM_000352.6(ABCC8):c.171G>A (p.Lys57=)
|
|
|
NM_000352.6(ABCC8):c.1723G>A (p.Val575Met)
|
|
|
NM_000352.6(ABCC8):c.1725G>A (p.Val575=)
|
|
|
NM_000352.6(ABCC8):c.1728C>G (p.Ala576=)
|
|
|
NM_000352.6(ABCC8):c.1728C>T (p.Ala576=)
|
|
|
NM_000352.6(ABCC8):c.1740C>T (p.Leu580=)
|
|
|
NM_000352.6(ABCC8):c.174G>A (p.Val58=)
|
|
|
NM_000352.6(ABCC8):c.1755C>A (p.Ile585=)
|
rs753888897
|
|
NM_000352.6(ABCC8):c.1758G>A (p.Leu586=)
|
|
|
NM_000352.6(ABCC8):c.1766C>T (p.Pro589Leu)
|
rs1955814875
|
|
NM_000352.6(ABCC8):c.1767G>C (p.Pro589=)
|
rs550788491
|
|
NM_000352.6(ABCC8):c.1767G>T (p.Pro589=)
|
rs550788491
|
|
NM_000352.6(ABCC8):c.1768C>G (p.Leu590Val)
|
|
|
NM_000352.6(ABCC8):c.1769del (p.Leu590fs)
|
|
|
NM_000352.6(ABCC8):c.1773C>G (p.Phe591Leu)
|
rs72559726
|
|
NM_000352.6(ABCC8):c.1774C>T (p.Leu592=)
|
rs2133549120
|
|
NM_000352.6(ABCC8):c.1776G>A (p.Leu592=)
|
rs2133549105
|
|
NM_000352.6(ABCC8):c.1777C>T (p.Leu593=)
|
|
|
NM_000352.6(ABCC8):c.1785T>C (p.Ser595=)
|
|
|
NM_000352.6(ABCC8):c.1788G>A (p.Val596=)
|
|
|
NM_000352.6(ABCC8):c.1788G>T (p.Val596=)
|
rs1371996539
|
|
NM_000352.6(ABCC8):c.1800C>G (p.Thr600=)
|
|
|
NM_000352.6(ABCC8):c.1803C>T (p.Val601=)
|
rs1955813039
|
|
NM_000352.6(ABCC8):c.180C>T (p.Ile60=)
|
rs1213662930
|
|
NM_000352.6(ABCC8):c.1810dup (p.Leu604fs)
|
rs2133548955
|
|
NM_000352.6(ABCC8):c.1812A>T (p.Leu604=)
|
|
|
NM_000352.6(ABCC8):c.1815G>A (p.Val605=)
|
rs2133548914
|
|
NM_000352.6(ABCC8):c.1815G>T (p.Val605=)
|
rs2133548914
|
|
NM_000352.6(ABCC8):c.1817+11G>A
|
|
|
NM_000352.6(ABCC8):c.1817+14C>T
|
|
|
NM_000352.6(ABCC8):c.1817+15C>T
|
|
|
NM_000352.6(ABCC8):c.1817+16G>A
|
|
|
NM_000352.6(ABCC8):c.1817+19C>A
|
|
|
NM_000352.6(ABCC8):c.1817+19C>T
|
|
|
NM_000352.6(ABCC8):c.1817+20G>A
|
|
|
NM_000352.6(ABCC8):c.1817+266del
|
rs370673339
|
|
NM_000352.6(ABCC8):c.1817+267C>A
|
rs72866869
|
|
NM_000352.6(ABCC8):c.1817+2T>C
|
|
|
NM_000352.6(ABCC8):c.1817+442C>T
|
|
|
NM_000352.6(ABCC8):c.1817+9A>G
|
rs2133548812
|
|
NM_000352.6(ABCC8):c.1818-13G>A
|
|
|
NM_000352.6(ABCC8):c.1818-1G>A
|
|
|
NM_000352.6(ABCC8):c.1818-2A>C
|
|
|
NM_000352.6(ABCC8):c.1818-7del
|
rs1955709311
|
|
NM_000352.6(ABCC8):c.1818-8C>T
|
|
|
NM_000352.6(ABCC8):c.1819G>A (p.Val607Met)
|
|
|
NM_000352.6(ABCC8):c.1821G>A (p.Val607=)
|
rs2133540043
|
|
NM_000352.6(ABCC8):c.1824A>G (p.Gln608=)
|
rs2133540040
|
|
NM_000352.6(ABCC8):c.1827G>A (p.Lys609=)
|
rs1218705276
|
|
NM_000352.6(ABCC8):c.1828C>T (p.Leu610=)
|
rs2133540000
|
|
NM_000352.6(ABCC8):c.1840C>T (p.Leu614=)
|
rs2133539879
|
|
NM_000352.6(ABCC8):c.1842G>A (p.Leu614=)
|
|
|
NM_000352.6(ABCC8):c.1842G>C (p.Leu614=)
|
rs776060408
|
|
NM_000352.6(ABCC8):c.1842G>T (p.Leu614=)
|
|
|
NM_000352.6(ABCC8):c.1845C>T (p.Ser615=)
|
rs763650219
|
|
NM_000352.6(ABCC8):c.1848T>C (p.Ser616=)
|
rs2133539790
|
|
NM_000352.6(ABCC8):c.1851A>G (p.Ala617=)
|
rs2133539762
|
|
NM_000352.6(ABCC8):c.1857C>A (p.Ile619=)
|
rs2133539733
|
|
NM_000352.6(ABCC8):c.1860T>A (p.Arg620=)
|
|
|
NM_000352.6(ABCC8):c.1866G>A (p.Glu622=)
|
rs2133539644
|
|
NM_000352.6(ABCC8):c.1878C>A (p.Pro626=)
|
|
|
NM_000352.6(ABCC8):c.1878C>G (p.Pro626=)
|
|
|
NM_000352.6(ABCC8):c.1879del (p.His627fs)
|
rs764613146
|
|
NM_000352.6(ABCC8):c.1880A>G (p.His627Arg)
|
|
|
NM_000352.6(ABCC8):c.1896G>A (p.Gln632=)
|
|
|
NM_000352.6(ABCC8):c.1911G>A (p.Lys637=)
|
rs2133539197
|
|
NM_000352.6(ABCC8):c.1914C>A (p.Tyr638Ter)
|
|
|
NM_000352.6(ABCC8):c.1923+11G>A
|
|
|
NM_000352.6(ABCC8):c.1923+11_1923+19del
|
|
|
NM_000352.6(ABCC8):c.1923+13C>A
|
|
|
NM_000352.6(ABCC8):c.1923+19C>A
|
|
|
NM_000352.6(ABCC8):c.1923+19C>G
|
|
|
NM_000352.6(ABCC8):c.1923+20T>C
|
|
|
NM_000352.6(ABCC8):c.1923+9C>G
|
|
|
NM_000352.6(ABCC8):c.1923+9C>T
|
rs2133539044
|
|
NM_000352.6(ABCC8):c.1924-18C>T
|
|
|
NM_000352.6(ABCC8):c.1924-1G>C
|
|
|
NM_000352.6(ABCC8):c.1924-20C>T
|
|
|
NM_000352.6(ABCC8):c.1924-2A>G
|
|
|
NM_000352.6(ABCC8):c.1924-4C>G
|
rs763688900
|
|
NM_000352.6(ABCC8):c.1924-6C>A
|
|
|
NM_000352.6(ABCC8):c.1924-7C>A
|
|
|
NM_000352.6(ABCC8):c.1924-7C>T
|
rs1318035035
|
|
NM_000352.6(ABCC8):c.1926C>A (p.Pro642=)
|
rs75376282
|
|
NM_000352.6(ABCC8):c.1926C>T (p.Pro642=)
|
rs75376282
|
|
NM_000352.6(ABCC8):c.1929C>T (p.Leu643=)
|
rs2133538210
|
|
NM_000352.6(ABCC8):c.1933del (p.Val645fs)
|
|
|
NM_000352.6(ABCC8):c.1938G>A (p.Val646=)
|
rs1591797830
|
|
NM_000352.6(ABCC8):c.1943G>A (p.Arg648His)
|
|
|
NM_000352.6(ABCC8):c.1950T>G (p.Arg650=)
|
rs772259601
|
|
NM_000352.6(ABCC8):c.1955_1958del (p.Ala652fs)
|
|
|
NM_000352.6(ABCC8):c.1960G>T (p.Glu654Ter)
|
|
|
NM_000352.6(ABCC8):c.1969C>A (p.Arg657=)
|
|
|
NM_000352.6(ABCC8):c.1973G>A (p.Gly658Asp)
|
|
|
NM_000352.6(ABCC8):c.1983C>T (p.Gly661=)
|
|
|
NM_000352.6(ABCC8):c.1989G>C (p.Leu663=)
|
|
|
NM_000352.6(ABCC8):c.1995C>T (p.Ser665=)
|
|
|
NM_000352.6(ABCC8):c.1999G>A (p.Val667Ile)
|
|
|
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
|
|
|
NM_000352.6(ABCC8):c.19G>T (p.Gly7Cys)
|
|
|
NM_000352.6(ABCC8):c.1A>G (p.Met1Val)
|
|
|
NM_000352.6(ABCC8):c.1_5del (p.Met1fs)
|
|
|
NM_000352.6(ABCC8):c.2001C>T (p.Val667=)
|
|
|
NM_000352.6(ABCC8):c.2004C>A (p.Pro668=)
|
|
|
NM_000352.6(ABCC8):c.2004del (p.Ser669fs)
|
|
|
NM_000352.6(ABCC8):c.2012A>G (p.Asp671Gly)
|
|
|
NM_000352.6(ABCC8):c.2013T>C (p.Asp671=)
|
rs2133537529
|
|
NM_000352.6(ABCC8):c.2016C>A (p.Gly672=)
|
|
|
NM_000352.6(ABCC8):c.2016C>T (p.Gly672=)
|
|
|
NM_000352.6(ABCC8):c.2017G>A (p.Asp673Asn)
|
|
|
NM_000352.6(ABCC8):c.2019T>C (p.Asp673=)
|
|
|
NM_000352.6(ABCC8):c.201T>C (p.His67=)
|
rs1433641979
|
|
NM_000352.6(ABCC8):c.2031C>A (p.Cys677Ter)
|
|
|
NM_000352.6(ABCC8):c.2031C>T (p.Cys677=)
|
rs1955681356
|
|
NM_000352.6(ABCC8):c.2040+11C>T
|
|
|
NM_000352.6(ABCC8):c.2040+12T>A
|
|
|
NM_000352.6(ABCC8):c.2040+13G>A
|
|
|
NM_000352.6(ABCC8):c.2040+13del
|
|
|
NM_000352.6(ABCC8):c.2040+14C>A
|
|
|
NM_000352.6(ABCC8):c.2040+15C>T
|
|
|
NM_000352.6(ABCC8):c.2040+17C>T
|
|
|
NM_000352.6(ABCC8):c.2040+7C>A
|
|
|
NM_000352.6(ABCC8):c.2041-11G>A
|
|
|
NM_000352.6(ABCC8):c.2041-12C>A
|
rs201419039
|
|
NM_000352.6(ABCC8):c.2041-12C>T
|
rs201419039
|
|
NM_000352.6(ABCC8):c.2041-13_2041-12del
|
rs2133535795
|
|
NM_000352.6(ABCC8):c.2041-14C>T
|
|
|
NM_000352.6(ABCC8):c.2041-21G>C
|
|
|
NM_000352.6(ABCC8):c.2041-25G>C
|
|
|
NM_000352.6(ABCC8):c.2041-5T>C
|
|
|
NM_000352.6(ABCC8):c.2043C>T (p.Ile681=)
|
rs2133535667
|
|
NM_000352.6(ABCC8):c.204C>T (p.Phe68=)
|
rs2133728998
|
|
NM_000352.6(ABCC8):c.2056T>A (p.Phe686Ile)
|
|
|
NM_000352.6(ABCC8):c.2057T>C (p.Phe686Ser)
|
rs1159625966
|
|
NM_000352.6(ABCC8):c.2061G>C (p.Thr687=)
|
rs1236747090
|
|
NM_000352.6(ABCC8):c.2064G>A (p.Trp688Ter)
|
|
|
NM_000352.6(ABCC8):c.2067C>A (p.Thr689=)
|
rs1427395321
|
|
NM_000352.6(ABCC8):c.2068C>G (p.Pro690Ala)
|
|
|
NM_000352.6(ABCC8):c.2070A>G (p.Pro690=)
|
rs1176345615
|
|
NM_000352.6(ABCC8):c.2075G>A (p.Gly692Glu)
|
rs2133535445
|
|
NM_000352.6(ABCC8):c.2082C>G (p.Pro694=)
|
|
|
NM_000352.6(ABCC8):c.2091C>T (p.Ser697=)
|
rs2133535370
|
|
NM_000352.6(ABCC8):c.2095A>G (p.Ile699Val)
|
|
|
NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs)
|
rs1057516542
|
|
NM_000352.6(ABCC8):c.20G>A (p.Gly7Asp)
|
|
|
NM_000352.6(ABCC8):c.2109C>A (p.Ile703=)
|
|
|
NM_000352.6(ABCC8):c.2113C>T (p.Arg705Ter)
|
rs751848086
|
|
NM_000352.6(ABCC8):c.2114del (p.Arg705fs)
|
|
|
NM_000352.6(ABCC8):c.2116+10A>C
|
|
|
NM_000352.6(ABCC8):c.2116+11G>C
|
|
|
NM_000352.6(ABCC8):c.2116+1G>T
|
rs1554924540
|
|
NM_000352.6(ABCC8):c.2116+9C>G
|
|
|
NM_000352.6(ABCC8):c.2117-10C>G
|
|
|
NM_000352.6(ABCC8):c.2117-15C>G
|
|
|
NM_000352.6(ABCC8):c.2117-18C>A
|
|
|
NM_000352.6(ABCC8):c.2117-1G>A
|
rs797045207
|
|
NM_000352.6(ABCC8):c.2117-2A>T
|
rs1476853180
|
|
NM_000352.6(ABCC8):c.2117-3_2117-2inv
|
|
|
NM_000352.6(ABCC8):c.2122C>T (p.Leu708=)
|
|
|
NM_000352.6(ABCC8):c.2124G>A (p.Leu708=)
|
|
|
NM_000352.6(ABCC8):c.2133C>T (p.Ile711=)
|
rs1212155948
|
|
NM_000352.6(ABCC8):c.2134G>T (p.Val712Leu)
|
|
|
NM_000352.6(ABCC8):c.2146G>A (p.Gly716Ser)
|
rs1591794677
|
|
NM_000352.6(ABCC8):c.2147G>A (p.Gly716Asp)
|
rs72559723
|
|
NM_000352.6(ABCC8):c.2147G>T (p.Gly716Val)
|
rs72559723
|
|
NM_000352.6(ABCC8):c.2151C>T (p.Cys717=)
|
rs776027296
|
|
NM_000352.6(ABCC8):c.2153G>T (p.Gly718Val)
|
rs2133531880
|
|
NM_000352.6(ABCC8):c.2160C>G (p.Ser720=)
|
|
|
NM_000352.6(ABCC8):c.2163G>A (p.Ser721=)
|
rs201724038
|
|
NM_000352.6(ABCC8):c.2166C>T (p.Leu722=)
|
|
|
NM_000352.6(ABCC8):c.216C>T (p.Asn72=)
|
|
|
NM_000352.6(ABCC8):c.2178A>C (p.Ala726=)
|
rs747902103
|
|
NM_000352.6(ABCC8):c.2180T>G (p.Leu727Arg)
|
rs1554924079
|
|
NM_000352.6(ABCC8):c.2184G>A (p.Gly728=)
|
|
|
NM_000352.6(ABCC8):c.2191C>G (p.Gln731Glu)
|
|
|
NM_000352.6(ABCC8):c.2193G>A (p.Gln731=)
|
|
|
NM_000352.6(ABCC8):c.2196G>A (p.Lys732=)
|
rs757327236
|
|
NM_000352.6(ABCC8):c.2204G>A (p.Gly735Glu)
|
|
|
NM_000352.6(ABCC8):c.2208T>C (p.Ala736=)
|
rs2133531312
|
|
NM_000352.6(ABCC8):c.2222+15C>A
|
rs377174421
|
|
NM_000352.6(ABCC8):c.2222+15C>T
|
|
|
NM_000352.6(ABCC8):c.2222+17C>T
|
|
|
NM_000352.6(ABCC8):c.2222+1G>A
|
rs1554923999
|
|
NM_000352.6(ABCC8):c.2222+1G>T
|
rs1554923999
|
|
NM_000352.6(ABCC8):c.2222+20G>A
|
|
|
NM_000352.6(ABCC8):c.2222+7C>T
|
|
|
NM_000352.6(ABCC8):c.2222+9T>C
|
|
|
NM_000352.6(ABCC8):c.2223-10G>T
|
rs2133488204
|
|
NM_000352.6(ABCC8):c.2223-16A>G
|
|
|
NM_000352.6(ABCC8):c.2223-19C>T
|
|
|
NM_000352.6(ABCC8):c.2223-20T>C
|
|
|
NM_000352.6(ABCC8):c.2226T>A (p.Leu742=)
|
|
|
NM_000352.6(ABCC8):c.222G>A (p.Arg74=)
|
rs745544561
|
|
NM_000352.6(ABCC8):c.222G>C (p.Arg74=)
|
|
|
NM_000352.6(ABCC8):c.2236G>T (p.Glu746Ter)
|
rs753296261
|
|
NM_000352.6(ABCC8):c.2252_2253dup (p.Ser752fs)
|
rs2133487890
|
|
NM_000352.6(ABCC8):c.2255+11G>C
|
|
|
NM_000352.6(ABCC8):c.2255+12G>A
|
|
|
NM_000352.6(ABCC8):c.2255+13G>A
|
|
|
NM_000352.6(ABCC8):c.2255+20T>A
|
|
|
NM_000352.6(ABCC8):c.2255+20T>C
|
|
|
NM_000352.6(ABCC8):c.2255+2T>C
|
rs1057516589
|
|
NM_000352.6(ABCC8):c.2255+7C>T
|
|
|
NM_000352.6(ABCC8):c.2256-16del
|
rs774508952
|
|
NM_000352.6(ABCC8):c.2256-18T>C
|
|
|
NM_000352.6(ABCC8):c.2256-1G>T
|
|
|
NM_000352.6(ABCC8):c.2256-20C>T
|
|
|
NM_000352.6(ABCC8):c.2256-9C>T
|
rs886048052
|
|
NM_000352.6(ABCC8):c.2259A>G (p.Pro753=)
|
rs1955020359
|
|
NM_000352.6(ABCC8):c.2262G>A (p.Glu754=)
|
rs2133482234
|
|
NM_000352.6(ABCC8):c.2263C>A (p.Arg755=)
|
rs748413285
|
|
NM_000352.6(ABCC8):c.2263C>T (p.Arg755Trp)
|
|
|
NM_000352.6(ABCC8):c.2264G>A (p.Arg755Gln)
|
|
|
NM_000352.6(ABCC8):c.2266G>T (p.Glu756Ter)
|
rs751826777
|
|
NM_000352.6(ABCC8):c.2267A>G (p.Glu756Gly)
|
|
|
NM_000352.6(ABCC8):c.2274G>C (p.Ala758=)
|
|
|
NM_000352.6(ABCC8):c.2277C>A (p.Thr759=)
|
|
|
NM_000352.6(ABCC8):c.2277C>G (p.Thr759=)
|
|
|
NM_000352.6(ABCC8):c.2277_2280del (p.Asp760fs)
|
rs1955018104
|
|
NM_000352.6(ABCC8):c.227del (p.Ile76fs)
|
|
|
NM_000352.6(ABCC8):c.2280C>A (p.Asp760Glu)
|
|
|
NM_000352.6(ABCC8):c.2281T>C (p.Leu761=)
|
rs760684989
|
|
NM_000352.6(ABCC8):c.2291+1G>A
|
rs1160946320
|
|
NM_000352.6(ABCC8):c.2291+20T>A
|
|
|
NM_000352.6(ABCC8):c.2291+7C>A
|
rs770152618
|
|
NM_000352.6(ABCC8):c.2291+7C>G
|
|
|
NM_000352.6(ABCC8):c.234C>A (p.Thr78=)
|
rs1591928554
|
|
NM_000352.6(ABCC8):c.234C>T (p.Thr78=)
|
rs1591928554
|
|
NM_000352.6(ABCC8):c.243G>A (p.Leu81=)
|
rs1192584588
|
|
NM_000352.6(ABCC8):c.246C>T (p.Leu82=)
|
rs2133728642
|
|
NM_000352.6(ABCC8):c.2476-13T>G
|
|
|
NM_000352.6(ABCC8):c.2476-20T>C
|
|
|
NM_000352.6(ABCC8):c.2476-8G>T
|
|
|
NM_000352.6(ABCC8):c.2477G>A (p.Gly826Asp)
|
rs1954875708
|
|
NM_000352.6(ABCC8):c.2496T>C (p.Gly832=)
|
|
|
NM_000352.6(ABCC8):c.249C>T (p.Phe83=)
|
rs1463898525
|
|
NM_000352.6(ABCC8):c.24C>T (p.Ser8=)
|
|
|
NM_000352.6(ABCC8):c.2505G>A (p.Gln835=)
|
rs2133470447
|
|
NM_000352.6(ABCC8):c.2521C>G (p.Arg841Gly)
|
rs1484689392
|
|
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)
|
rs547150342
|
|
NM_000352.6(ABCC8):c.2526C>T (p.Ala842=)
|
|
|
NM_000352.6(ABCC8):c.2527C>G (p.Leu843Val)
|
|
|
NM_000352.6(ABCC8):c.2529C>G (p.Leu843=)
|
|
|
NM_000352.6(ABCC8):c.252C>G (p.Val84=)
|
rs771819362
|
|
NM_000352.6(ABCC8):c.2539G>A (p.Ala847Thr)
|
rs561593131
|
|
NM_000352.6(ABCC8):c.2556+13T>G
|
|
|
NM_000352.6(ABCC8):c.2556+17T>C
|
|
|
NM_000352.6(ABCC8):c.2556+17T>G
|
|
|
NM_000352.6(ABCC8):c.2556+18T>G
|
|
|
NM_000352.6(ABCC8):c.2556+192del
|
rs3214159
|
|
NM_000352.6(ABCC8):c.2556+79C>T
|
rs77655678
|
|
NM_000352.6(ABCC8):c.2556+7G>A
|
|
|
NM_000352.6(ABCC8):c.2557-11del
|
|
|
NM_000352.6(ABCC8):c.2557-12C>A
|
|
|
NM_000352.6(ABCC8):c.2557-13C>T
|
|
|
NM_000352.6(ABCC8):c.2557-15C>A
|
|
|
NM_000352.6(ABCC8):c.2557-4C>T
|
rs2133461625
|
|
NM_000352.6(ABCC8):c.2557-6G>A
|
|
|
NM_000352.6(ABCC8):c.2557-6G>T
|
rs2133461636
|
|
NM_000352.6(ABCC8):c.2562C>A (p.Asp854Glu)
|
|
|
NM_000352.6(ABCC8):c.257T>C (p.Val86Ala)
|
rs193929360
|
|
NM_000352.6(ABCC8):c.2581_2586dup (p.His862_Leu863insIleHis)
|
|
|
NM_000352.6(ABCC8):c.2583C>G (p.Ile861Met)
|
|
|
NM_000352.6(ABCC8):c.2585_2588del (p.His862fs)
|
|
|
NM_000352.6(ABCC8):c.258G>A (p.Val86=)
|
rs755833610
|
|
NM_000352.6(ABCC8):c.2602A>G (p.Met868Val)
|
rs2133461403
|
|
NM_000352.6(ABCC8):c.2625G>A (p.Leu875=)
|
rs2133461235
|
|
NM_000352.6(ABCC8):c.2629C>A (p.Arg877=)
|
|
|
NM_000352.6(ABCC8):c.2646A>G (p.Thr882=)
|
rs2133461092
|
|
NM_000352.6(ABCC8):c.264G>A (p.Glu88=)
|
|
|
NM_000352.6(ABCC8):c.2652C>T (p.Val884=)
|
|
|
NM_000352.6(ABCC8):c.2653T>C (p.Leu885=)
|
rs2133461057
|
|
NM_000352.6(ABCC8):c.2655A>G (p.Leu885=)
|
rs1954760215
|
|
NM_000352.6(ABCC8):c.2668C>T (p.Leu890=)
|
|
|
NM_000352.6(ABCC8):c.2671C>T (p.Gln891Ter)
|
rs2133460957
|
|
NM_000352.6(ABCC8):c.2679G>A (p.Leu893=)
|
|
|
NM_000352.6(ABCC8):c.2679G>T (p.Leu893=)
|
rs1023939014
|
|
NM_000352.6(ABCC8):c.2682C>G (p.Pro894=)
|
|
|
NM_000352.6(ABCC8):c.2685T>C (p.His895=)
|
rs2133460865
|
|
NM_000352.6(ABCC8):c.2691C>T (p.Asp897=)
|
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
NM_000352.6(ABCC8):c.2694+11A>G
|
|
|
NM_000352.6(ABCC8):c.2694+12C>T
|
|
|
NM_000352.6(ABCC8):c.2694+17G>A
|
|
|
NM_000352.6(ABCC8):c.2694+17G>C
|
|
|
NM_000352.6(ABCC8):c.2694+18G>A
|
|
|
NM_000352.6(ABCC8):c.2694+19del
|
|
|
NM_000352.6(ABCC8):c.2694+1G>A
|
|
|
NM_000352.6(ABCC8):c.2694+7G>A
|
rs2133460747
|
|
NM_000352.6(ABCC8):c.2694+7G>C
|
|
|
NM_000352.6(ABCC8):c.2694+9del
|
rs1564898910
|
|
NM_000352.6(ABCC8):c.2695-20G>A
|
|
|
NM_000352.6(ABCC8):c.2695-2A>T
|
rs863225278
|
|
NM_000352.6(ABCC8):c.2695-4C>A
|
|
|
NM_000352.6(ABCC8):c.2695-5T>C
|
|
|
NM_000352.6(ABCC8):c.2700T>G (p.Ile900Met)
|
|
|
NM_000352.6(ABCC8):c.2709G>A (p.Lys903=)
|
rs1591749128
|
|
NM_000352.6(ABCC8):c.2725A>T (p.Arg909Trp)
|
|
|
NM_000352.6(ABCC8):c.2727G>A (p.Arg909=)
|
|
|
NM_000352.6(ABCC8):c.2733T>A (p.Gly911=)
|
|
|
NM_000352.6(ABCC8):c.2736C>T (p.Thr912=)
|
|
|
NM_000352.6(ABCC8):c.273G>A (p.Glu91=)
|
rs1363642618
|
|
NM_000352.6(ABCC8):c.2747T>C (p.Phe916Ser)
|
|
|
NM_000352.6(ABCC8):c.2754G>A (p.Arg918=)
|
|
|
NM_000352.6(ABCC8):c.2764C>T (p.Gln922Ter)
|
rs1954644972
|
|
NM_000352.6(ABCC8):c.276C>T (p.Gly92=)
|
|
|
NM_000352.6(ABCC8):c.2773G>C (p.Glu925Gln)
|
|
|
NM_000352.6(ABCC8):c.2775G>A (p.Glu925=)
|
rs2133452505
|
|
NM_000352.6(ABCC8):c.2787C>G (p.Thr929=)
|
|
|
NM_000352.6(ABCC8):c.27G>A (p.Glu9=)
|
rs2133738203
|
|
NM_000352.6(ABCC8):c.2800C>T (p.Gln934Ter)
|
|
|
NM_000352.6(ABCC8):c.2802G>A (p.Gln934=)
|
|
|
NM_000352.6(ABCC8):c.2803G>A (p.Asp935Asn)
|
rs778384865
|
|
NM_000352.6(ABCC8):c.280C>T (p.Leu94=)
|
rs2133728329
|
|
NM_000352.6(ABCC8):c.2811G>A (p.Glu937=)
|
rs756734449
|
|
NM_000352.6(ABCC8):c.2819_2820+17dup
|
|
|
NM_000352.6(ABCC8):c.2820+19G>A
|
|
|
NM_000352.6(ABCC8):c.2821-11C>G
|
|
|
NM_000352.6(ABCC8):c.2823G>A (p.Glu941=)
|
|
|
NM_000352.6(ABCC8):c.282G>A (p.Leu94=)
|
rs757467422
|
|
NM_000352.6(ABCC8):c.2832A>G (p.Thr944=)
|
|
|
NM_000352.6(ABCC8):c.2835G>A (p.Glu945=)
|
rs754757951
|
|
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)
|
rs1554913069
|
|
NM_000352.6(ABCC8):c.2856C>A (p.Pro952=)
|
rs1284352811
|
|
NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro)
|
rs761960758
|
|
NM_000352.6(ABCC8):c.285T>A (p.Ser95=)
|
|
|
NM_000352.6(ABCC8):c.2880C>T (p.Ser960=)
|
rs774603418
|
|
NM_000352.6(ABCC8):c.2883G>C (p.Ser961=)
|
|
|
NM_000352.6(ABCC8):c.2884A>C (p.Arg962=)
|
rs2133449165
|
|
NM_000352.6(ABCC8):c.2887G>C (p.Asp963His)
|
|
|
NM_000352.6(ABCC8):c.2889T>C (p.Asp963=)
|
rs1399055404
|
|
NM_000352.6(ABCC8):c.2895_2897del (p.Leu966del)
|
rs751964033
|
|
NM_000352.6(ABCC8):c.290+12_290+15del
|
|
|
NM_000352.6(ABCC8):c.290+17G>A
|
|
|
NM_000352.6(ABCC8):c.290+18del
|
|
|
NM_000352.6(ABCC8):c.290+1G>A
|
rs2133728249
|
|
NM_000352.6(ABCC8):c.290+8A>T
|
|
|
NM_000352.6(ABCC8):c.291-18T>C
|
|
|
NM_000352.6(ABCC8):c.291-20G>A
|
|
|
NM_000352.6(ABCC8):c.291-250A>G
|
rs142378629
|
|
NM_000352.6(ABCC8):c.291-2A>G
|
rs786204695
|
|
NM_000352.6(ABCC8):c.291-5C>T
|
rs2133711631
|
|
NM_000352.6(ABCC8):c.291-6T>A
|
|
|
NM_000352.6(ABCC8):c.291-7A>G
|
|
|
NM_000352.6(ABCC8):c.2910A>G (p.Glu970=)
|
|
|
NM_000352.6(ABCC8):c.2913G>A (p.Glu971=)
|
|
|
NM_000352.6(ABCC8):c.2920+10dup
|
|
|
NM_000352.6(ABCC8):c.2920+11T>C
|
|
|
NM_000352.6(ABCC8):c.2920+13G>T
|
|
|
NM_000352.6(ABCC8):c.2920+17T>C
|
|
|
NM_000352.6(ABCC8):c.2921-19G>A
|
|
|
NM_000352.6(ABCC8):c.2921-1G>A
|
rs772682942
|
|
NM_000352.6(ABCC8):c.2921-4G>A
|
|
|
NM_000352.6(ABCC8):c.2925G>A (p.Glu975=)
|
rs1954581539
|
|
NM_000352.6(ABCC8):c.2928A>G (p.Ala976=)
|
rs370703902
|
|
NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr)
|
rs568576108
|
|
NM_000352.6(ABCC8):c.2941G>A (p.Glu981Lys)
|
|
|
NM_000352.6(ABCC8):c.2941G>T (p.Glu981Ter)
|
|
|
NM_000352.6(ABCC8):c.2949C>T (p.Asp983=)
|
rs2133448234
|
|
NM_000352.6(ABCC8):c.2953C>T (p.Leu985=)
|
rs2133448216
|
|
NM_000352.6(ABCC8):c.2953del (p.Leu985fs)
|
|
|
NM_000352.6(ABCC8):c.2969A>G (p.His990Arg)
|
rs2133448138
|
|
NM_000352.6(ABCC8):c.2971C>T (p.Gln991Ter)
|
rs1954577994
|
|
NM_000352.6(ABCC8):c.2973G>C (p.Gln991His)
|
|
|
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro)
|
rs201499958
|
|
NM_000352.6(ABCC8):c.2979T>A (p.Ala993=)
|
rs2133448070
|
|
NM_000352.6(ABCC8):c.297C>A (p.Thr99=)
|
rs906180828
|
|
NM_000352.6(ABCC8):c.298G>A (p.Glu100Lys)
|
|
|
NM_000352.6(ABCC8):c.298G>T (p.Glu100Ter)
|
|
|
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro)
|
rs776248166
|
|
NM_000352.6(ABCC8):c.2T>C (p.Met1Thr)
|
|
|
NM_000352.6(ABCC8):c.3000C>A (p.Cys1000Ter)
|
rs192863214
|
|
NM_000352.6(ABCC8):c.3009C>T (p.Tyr1003=)
|
|
|
NM_000352.6(ABCC8):c.300A>G (p.Glu100=)
|
|
|
NM_000352.6(ABCC8):c.3015C>T (p.Ser1005=)
|
|
|
NM_000352.6(ABCC8):c.3018C>A (p.Ser1006=)
|
rs149279510
|
|
NM_000352.6(ABCC8):c.3027C>A (p.Ile1009=)
|
|
|
NM_000352.6(ABCC8):c.3038C>A (p.Ser1013Ter)
|
|
|
NM_000352.6(ABCC8):c.3039G>T (p.Ser1013=)
|
|
|
NM_000352.6(ABCC8):c.3040T>C (p.Leu1014=)
|
|
|
NM_000352.6(ABCC8):c.3043C>T (p.Leu1015=)
|
rs72559719
|
|
NM_000352.6(ABCC8):c.3047T>C (p.Val1016Ala)
|
|
|
NM_000352.6(ABCC8):c.306C>T (p.His102=)
|
rs759952645
|
|
NM_000352.6(ABCC8):c.3075C>A (p.Val1025=)
|
|
|
NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=)
|
rs1354438772
|
|
NM_000352.6(ABCC8):c.3078G>A (p.Leu1026=)
|
|
|
NM_000352.6(ABCC8):c.3078G>C (p.Leu1026=)
|
rs1954569008
|
|
NM_000352.6(ABCC8):c.3081G>A (p.Val1027=)
|
rs745860035
|
|
NM_000352.6(ABCC8):c.3081G>T (p.Val1027=)
|
rs745860035
|
|
NM_000352.6(ABCC8):c.3082del (p.Ala1028fs)
|
rs1954568421
|
|
NM_000352.6(ABCC8):c.3087C>T (p.Ile1029=)
|
rs376413488
|
|
NM_000352.6(ABCC8):c.3095G>A (p.Trp1032Ter)
|
|
|
NM_000352.6(ABCC8):c.3097C>T (p.Leu1033=)
|
|
|
NM_000352.6(ABCC8):c.3102C>G (p.Ala1034=)
|
rs749093430
|
|
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)
|
rs755259997
|
|
NM_000352.6(ABCC8):c.3108G>A (p.Trp1036Ter)
|
rs1057516585
|
|
NM_000352.6(ABCC8):c.3114C>T (p.Asp1038=)
|
rs2133447045
|
|
NM_000352.6(ABCC8):c.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs)
|
rs786204542
|
|
NM_000352.6(ABCC8):c.3129G>A (p.Leu1043=)
|
rs1591744434
|
|
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)
|
rs886041392
|
|
NM_000352.6(ABCC8):c.3132C>G (p.Thr1044=)
|
|
|
NM_000352.6(ABCC8):c.3135T>C (p.Pro1045=)
|
rs763608511
|
|
NM_000352.6(ABCC8):c.3142A>G (p.Arg1048Gly)
|
|
|
NM_000352.6(ABCC8):c.3153C>T (p.Ser1051=)
|
rs2133446558
|
|
NM_000352.6(ABCC8):c.3154C>T (p.Leu1052Phe)
|
|
|
NM_000352.6(ABCC8):c.3159C>T (p.Ser1053=)
|
|
|
NM_000352.6(ABCC8):c.3162+11C>T
|
|
|
NM_000352.6(ABCC8):c.3162+12G>A
|
|
|
NM_000352.6(ABCC8):c.3162+14C>T
|
|
|
NM_000352.6(ABCC8):c.3162+19G>A
|
|
|
NM_000352.6(ABCC8):c.3162+9G>A
|
|
|
NM_000352.6(ABCC8):c.3163-10G>T
|
|
|
NM_000352.6(ABCC8):c.3163-14C>T
|
|
|
NM_000352.6(ABCC8):c.3163-18C>T
|
|
|
NM_000352.6(ABCC8):c.3163-20A>C
|
|
|
NM_000352.6(ABCC8):c.3163-5T>A
|
|
|
NM_000352.6(ABCC8):c.3163-6G>A
|
|
|
NM_000352.6(ABCC8):c.3163-8C>G
|
|
|
NM_000352.6(ABCC8):c.3163-8C>T
|
rs1489967666
|
|
NM_000352.6(ABCC8):c.3163-9C>A
|
|
|
NM_000352.6(ABCC8):c.3168C>T (p.Cys1056=)
|
rs1799860
|
|
NM_000352.6(ABCC8):c.3171C>A (p.Thr1057=)
|
rs1251688793
|
|
NM_000352.6(ABCC8):c.3171C>T (p.Thr1057=)
|
|
|
NM_000352.6(ABCC8):c.3174C>T (p.Leu1058=)
|
rs778240883
|
|
NM_000352.6(ABCC8):c.318G>A (p.Leu106=)
|
rs762615496
|
|
NM_000352.6(ABCC8):c.318G>C (p.Leu106=)
|
|
|
NM_000352.6(ABCC8):c.3192C>T (p.Ala1064=)
|
rs1361537195
|
|
NM_000352.6(ABCC8):c.3193A>T (p.Met1065Leu)
|
|
|
NM_000352.6(ABCC8):c.3198G>A (p.Val1066=)
|
|
|
NM_000352.6(ABCC8):c.3204G>C (p.Thr1068=)
|
rs760793070
|
|
NM_000352.6(ABCC8):c.3204G>T (p.Thr1068=)
|
|
|
NM_000352.6(ABCC8):c.3231G>A (p.Leu1077=)
|
rs2133445595
|
|
NM_000352.6(ABCC8):c.3237C>G (p.Leu1079=)
|
|
|
NM_000352.6(ABCC8):c.3237C>T (p.Leu1079=)
|
rs888495082
|
|
NM_000352.6(ABCC8):c.3243G>T (p.Thr1081=)
|
rs771538281
|
|
NM_000352.6(ABCC8):c.3249C>T (p.Val1083=)
|
|
|
NM_000352.6(ABCC8):c.3264A>G (p.Thr1088=)
|
|
|
NM_000352.6(ABCC8):c.3270G>A (p.Leu1090=)
|
rs1054629799
|
|
NM_000352.6(ABCC8):c.3283A>T (p.Arg1095Ter)
|
|
|
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro)
|
rs1352191146
|
|
NM_000352.6(ABCC8):c.3292C>T (p.Arg1098Cys)
|
rs150368331
|
|
NM_000352.6(ABCC8):c.3307C>A (p.Arg1103=)
|
|
|
NM_000352.6(ABCC8):c.3309G>A (p.Arg1103=)
|
rs1321810156
|
|
NM_000352.6(ABCC8):c.3309G>T (p.Arg1103=)
|
rs1321810156
|
|
NM_000352.6(ABCC8):c.3312C>T (p.Ile1104=)
|
|
|
NM_000352.6(ABCC8):c.3318A>G (p.Leu1106=)
|
rs750430789
|
|
NM_000352.6(ABCC8):c.3324C>T (p.Pro1108=)
|
rs2133445127
|
|
NM_000352.6(ABCC8):c.3329+11C>A
|
|
|
NM_000352.6(ABCC8):c.3329+11C>T
|
|
|
NM_000352.6(ABCC8):c.3329+13C>A
|
|
|
NM_000352.6(ABCC8):c.3329+17G>A
|
|
|
NM_000352.6(ABCC8):c.3329+184G>C
|
rs78444979
|
|
NM_000352.6(ABCC8):c.3329+19C>G
|
|
|
NM_000352.6(ABCC8):c.3329+9C>T
|
|
|
NM_000352.6(ABCC8):c.332G>A (p.Gly111Glu)
|
rs2133711374
|
|
NM_000352.6(ABCC8):c.3330-19T>C
|
|
|
NM_000352.6(ABCC8):c.3330-8C>T
|
rs765173606
|
|
NM_000352.6(ABCC8):c.3339G>A (p.Glu1113=)
|
rs757191246
|
|
NM_000352.6(ABCC8):c.333del (p.Met112fs)
|
rs2133711362
|
|
NM_000352.6(ABCC8):c.3342C>T (p.Thr1114=)
|
|
|
NM_000352.6(ABCC8):c.3345G>T (p.Thr1115=)
|
rs186634115
|
|
NM_000352.6(ABCC8):c.3351T>A (p.Leu1117=)
|
|
|
NM_000352.6(ABCC8):c.3361C>T (p.Leu1121=)
|
rs2133441964
|
|
NM_000352.6(ABCC8):c.3366C>T (p.Asn1122=)
|
rs2133441940
|
|
NM_000352.6(ABCC8):c.3372T>C (p.Phe1124=)
|
|
|
NM_000352.6(ABCC8):c.3378T>C (p.Ser1126=)
|
|
|
NM_000352.6(ABCC8):c.3378del (p.Asp1127fs)
|
rs1954474111
|
|
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)
|
rs2133711315
|
|
NM_000352.6(ABCC8):c.3396C>T (p.Asp1132=)
|
rs2133441796
|
|
NM_000352.6(ABCC8):c.3399+12C>G
|
|
|
NM_000352.6(ABCC8):c.3399+13G>C
|
rs182340196
|
|
NM_000352.6(ABCC8):c.3399+13dup
|
|
|
NM_000352.6(ABCC8):c.3399+2T>C
|
|
|
NM_000352.6(ABCC8):c.3399+45C>A
|
rs200276273
|
|
NM_000352.6(ABCC8):c.3399+8G>A
|
|
|
NM_000352.6(ABCC8):c.3399+8G>T
|
rs1954472055
|
|
NM_000352.6(ABCC8):c.3400-11G>A
|
|
|
NM_000352.6(ABCC8):c.3400-12C>T
|
|
|
NM_000352.6(ABCC8):c.3400-14C>A
|
|
|
NM_000352.6(ABCC8):c.3400-14C>G
|
|
|
NM_000352.6(ABCC8):c.3400-14C>T
|
rs745575417
|
|
NM_000352.6(ABCC8):c.3400-16C>T
|
|
|
NM_000352.6(ABCC8):c.3400-18C>T
|
|
|
NM_000352.6(ABCC8):c.3400-1G>A
|
rs576684889
|
|
NM_000352.6(ABCC8):c.3400-20C>T
|
|
|
NM_000352.6(ABCC8):c.3400-21_3400-18del
|
|
|
NM_000352.6(ABCC8):c.3400-6C>T
|
|
|
NM_000352.6(ABCC8):c.3400-7C>G
|
|
|
NM_000352.6(ABCC8):c.3400-8T>C
|
|
|
NM_000352.6(ABCC8):c.3408A>G (p.Pro1136=)
|
|
|
NM_000352.6(ABCC8):c.3414G>A (p.Thr1138=)
|
rs762412267
|
|
NM_000352.6(ABCC8):c.342C>T (p.Phe114=)
|
rs2133711281
|
|
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=)
|
rs371089976
|
|
NM_000352.6(ABCC8):c.3439del (p.Leu1147fs)
|
rs2133439017
|
|
NM_000352.6(ABCC8):c.343A>G (p.Met115Val)
|
rs146695489
|
|
NM_000352.6(ABCC8):c.3444C>T (p.Leu1148=)
|
|
|
NM_000352.6(ABCC8):c.3456C>A (p.Ala1152=)
|
rs1044800524
|
|
NM_000352.6(ABCC8):c.3456C>G (p.Ala1152=)
|
rs1044800524
|
|
NM_000352.6(ABCC8):c.3456C>T (p.Ala1152=)
|
|
|
NM_000352.6(ABCC8):c.3459G>A (p.Leu1153=)
|
|
|
NM_000352.6(ABCC8):c.3465C>T (p.Val1155=)
|
rs368044193
|
|
NM_000352.6(ABCC8):c.3474T>C (p.Tyr1158=)
|
|
|
NM_000352.6(ABCC8):c.3480A>G (p.Thr1160=)
|
rs1954419460
|
|
NM_000352.6(ABCC8):c.3486G>A (p.Val1162=)
|
rs151203959
|
|
NM_000352.6(ABCC8):c.3495G>A (p.Val1165=)
|
|
|
NM_000352.6(ABCC8):c.3495G>T (p.Val1165=)
|
rs1431596946
|
|
NM_000352.6(ABCC8):c.3498C>T (p.Ala1166=)
|
|
|
NM_000352.6(ABCC8):c.3501C>G (p.Leu1167=)
|
rs781026423
|
|
NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=)
|
rs565968675
|
|
NM_000352.6(ABCC8):c.3504G>A (p.Leu1168=)
|
|
|
NM_000352.6(ABCC8):c.3505C>T (p.Pro1169Ser)
|
|
|
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs)
|
rs587783169
|
|
NM_000352.6(ABCC8):c.3510G>A (p.Leu1170=)
|
|
|
NM_000352.6(ABCC8):c.3513C>A (p.Ala1171=)
|
rs778961697
|
|
NM_000352.6(ABCC8):c.351T>C (p.Ala117=)
|
rs779259385
|
|
NM_000352.6(ABCC8):c.3531C>T (p.Ile1177=)
|
|
|
NM_000352.6(ABCC8):c.3540C>T (p.Tyr1180=)
|
|
|
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln)
|
rs193922400
|
|
NM_000352.6(ABCC8):c.3545G>T (p.Arg1182Leu)
|
|
|
NM_000352.6(ABCC8):c.3546G>A (p.Arg1182=)
|
rs2133438266
|
|
NM_000352.6(ABCC8):c.3551C>T (p.Ala1184Val)
|
rs137852675
|
|
NM_000352.6(ABCC8):c.3557+118_3557+121del
|
rs4148637
|
|
NM_000352.6(ABCC8):c.3557+11C>T
|
|
|
NM_000352.6(ABCC8):c.3557+12del
|
|
|
NM_000352.6(ABCC8):c.3557+14G>T
|
|
|
NM_000352.6(ABCC8):c.3557+16G>A
|
|
|
NM_000352.6(ABCC8):c.3557+16G>T
|
|
|
NM_000352.6(ABCC8):c.3557+17T>A
|
|
|
NM_000352.6(ABCC8):c.3557+1G>A
|
rs1554910610
|
|
NM_000352.6(ABCC8):c.3557+1G>T
|
rs1554910610
|
|
NM_000352.6(ABCC8):c.3557+7G>A
|
rs2133438141
|
|
NM_000352.6(ABCC8):c.3557+8C>A
|
rs1954411444
|
|
NM_000352.6(ABCC8):c.3557+9C>T
|
|
|
NM_000352.6(ABCC8):c.3558-12dup
|
|
|
NM_000352.6(ABCC8):c.3558-14G>A
|
|
|
NM_000352.6(ABCC8):c.3558-17T>A
|
|
|
NM_000352.6(ABCC8):c.3568C>T (p.Gln1190Ter)
|
|
|
NM_000352.6(ABCC8):c.3573G>A (p.Leu1191=)
|
rs1038735802
|
|
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)
|
rs1057516317
|
|
NM_000352.6(ABCC8):c.3579C>T (p.Asp1193=)
|
rs2133430587
|
|
NM_000352.6(ABCC8):c.3582C>T (p.Thr1194=)
|
rs2133430540
|
|
NM_000352.6(ABCC8):c.3585C>T (p.Thr1195=)
|
|
|
NM_000352.6(ABCC8):c.3591T>G (p.Leu1197=)
|
|
|
NM_000352.6(ABCC8):c.35C>A (p.Ser12Ter)
|
rs1283621955
|
|
NM_000352.6(ABCC8):c.3600C>T (p.Leu1200=)
|
|
|
NM_000352.6(ABCC8):c.3603A>T (p.Ser1201=)
|
rs145874746
|
|
NM_000352.6(ABCC8):c.3609T>C (p.Phe1203=)
|
|
|
NM_000352.6(ABCC8):c.3612C>G (p.Ala1204=)
|
rs149861153
|
|
NM_000352.6(ABCC8):c.3627A>T (p.Gly1209=)
|
rs2133430260
|
|
NM_000352.6(ABCC8):c.363G>T (p.Val121=)
|
|
|
NM_000352.6(ABCC8):c.3642G>A (p.Arg1214=)
|
rs2133430175
|
|
NM_000352.6(ABCC8):c.3645C>A (p.Ala1215=)
|
|
|
NM_000352.6(ABCC8):c.3645C>T (p.Ala1215=)
|
|
|
NM_000352.6(ABCC8):c.3650+14T>C
|
|
|
NM_000352.6(ABCC8):c.3650+1G>T
|
|
|
NM_000352.6(ABCC8):c.3650+4C>G
|
rs374315114
|
|
NM_000352.6(ABCC8):c.3650+5G>A
|
|
|
NM_000352.6(ABCC8):c.3650+6_3650+7dup
|
rs1451699241
|
|
NM_000352.6(ABCC8):c.3650+7G>C
|
|
|
NM_000352.6(ABCC8):c.3650+9C>A
|
rs1591730796
|
|
NM_000352.6(ABCC8):c.3650+9C>G
|
|
|
NM_000352.6(ABCC8):c.3651-17T>C
|
|
|
NM_000352.6(ABCC8):c.3651-19C>T
|
|
|
NM_000352.6(ABCC8):c.3651-4C>G
|
rs1954058406
|
|
NM_000352.6(ABCC8):c.3651-4C>T
|
rs1954058406
|
|
NM_000352.6(ABCC8):c.3660C>T (p.Ala1220=)
|
rs1954057293
|
|
NM_000352.6(ABCC8):c.3663G>A (p.Arg1221=)
|
|
|
NM_000352.6(ABCC8):c.3669G>A (p.Gln1223=)
|
rs2133413976
|
|
NM_000352.6(ABCC8):c.3674del (p.Lys1225fs)
|
|
|
NM_000352.6(ABCC8):c.3678T>G (p.Leu1226=)
|
|
|
NM_000352.6(ABCC8):c.3681C>G (p.Leu1227=)
|
rs370636988
|
|
NM_000352.6(ABCC8):c.3682del (p.Glu1228fs)
|
|
|
NM_000352.6(ABCC8):c.3687C>T (p.Tyr1229=)
|
rs2133413841
|
|
NM_000352.6(ABCC8):c.3696C>T (p.Ser1232=)
|
rs953395303
|
|
NM_000352.6(ABCC8):c.36G>A (p.Ser12=)
|
|
|
NM_000352.6(ABCC8):c.36G>T (p.Ser12=)
|
|
|
NM_000352.6(ABCC8):c.3714C>G (p.Leu1238=)
|
|
|
NM_000352.6(ABCC8):c.3714C>T (p.Leu1238=)
|
rs779489003
|
|
NM_000352.6(ABCC8):c.3717C>T (p.Phe1239=)
|
rs1210628924
|
|
NM_000352.6(ABCC8):c.3723A>T (p.Thr1241=)
|
rs2133413704
|
|
NM_000352.6(ABCC8):c.3729C>T (p.Ala1243=)
|
rs753473058
|
|
NM_000352.6(ABCC8):c.3732C>T (p.Asn1244=)
|
rs763659404
|
|
NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg)
|
rs1554906790
|
|
NM_000352.6(ABCC8):c.3737G>A (p.Trp1246Ter)
|
|
|
NM_000352.6(ABCC8):c.3737G>T (p.Trp1246Leu)
|
rs2133413622
|
|
NM_000352.6(ABCC8):c.3738G>A (p.Trp1246Ter)
|
|
|
NM_000352.6(ABCC8):c.3753+10A>G
|
rs1591718533
|
|
NM_000352.6(ABCC8):c.3753+11T>C
|
|
|
NM_000352.6(ABCC8):c.3753+11T>G
|
|
|
NM_000352.6(ABCC8):c.3753+269C>A
|
rs17846760
|
|
NM_000352.6(ABCC8):c.3753+2C>T
|
rs760196276
|
|
NM_000352.6(ABCC8):c.3753+6T>C
|
|
|
NM_000352.6(ABCC8):c.3754-12C>G
|
|
|
NM_000352.6(ABCC8):c.3754-12C>T
|
|
|
NM_000352.6(ABCC8):c.3754-14C>T
|
|
|
NM_000352.6(ABCC8):c.3754-1G>A
|
rs1554906449
|
|
NM_000352.6(ABCC8):c.3754-6C>T
|
rs1591717230
|
|
NM_000352.6(ABCC8):c.3754-8C>T
|
rs2133411706
|
|
NM_000352.6(ABCC8):c.3756G>A (p.Glu1252=)
|
|
|
NM_000352.6(ABCC8):c.375_376del (p.His125fs)
|
|
|
NM_000352.6(ABCC8):c.3763G>A (p.Gly1255Ser)
|
rs1185034563
|
|
NM_000352.6(ABCC8):c.3765T>A (p.Gly1255=)
|
rs775699878
|
|
NM_000352.6(ABCC8):c.3773dup (p.Val1259fs)
|
rs2133411551
|
|
NM_000352.6(ABCC8):c.3775G>A (p.Val1259Met)
|
|
|
NM_000352.6(ABCC8):c.3777G>A (p.Val1259=)
|
rs150679949
|
|
NM_000352.6(ABCC8):c.3784G>C (p.Ala1262Pro)
|
|
|
NM_000352.6(ABCC8):c.378C>T (p.Asn126=)
|
rs2133711004
|
|
NM_000352.6(ABCC8):c.3795C>T (p.Thr1265=)
|
rs572134560
|
|
NM_000352.6(ABCC8):c.3800T>C (p.Ile1267Thr)
|
|
|
NM_000352.6(ABCC8):c.381C>T (p.Ile127=)
|
rs753235776
|
|
NM_000352.6(ABCC8):c.3822G>A (p.Glu1274=)
|
rs2133411157
|
|
NM_000352.6(ABCC8):c.3825C>A (p.Leu1275=)
|
|
|
NM_000352.6(ABCC8):c.3827_3828del (p.Ser1276fs)
|
|
|
NM_000352.6(ABCC8):c.3839T>C (p.Val1280Ala)
|
|
|
NM_000352.6(ABCC8):c.3843C>A (p.Gly1281=)
|
|
|
NM_000352.6(ABCC8):c.3862C>T (p.Leu1288=)
|
rs1045246716
|
|
NM_000352.6(ABCC8):c.3867+12T>C
|
|
|
NM_000352.6(ABCC8):c.3867+15G>A
|
|
|
NM_000352.6(ABCC8):c.3867+16C>A
|
|
|
NM_000352.6(ABCC8):c.3867+16C>T
|
|
|
NM_000352.6(ABCC8):c.3867+1G>A
|
|
|
NM_000352.6(ABCC8):c.3867+7G>C
|
rs372198547
|
|
NM_000352.6(ABCC8):c.3868-10C>A
|
|
|
NM_000352.6(ABCC8):c.3868-10C>T
|
rs2133409266
|
|
NM_000352.6(ABCC8):c.3868-11G>A
|
|
|
NM_000352.6(ABCC8):c.3868-4A>C
|
|
|
NM_000352.6(ABCC8):c.3868-4A>G
|
rs1953988886
|
|
NM_000352.6(ABCC8):c.3870C>T (p.Val1290=)
|
rs2133409188
|
|
NM_000352.6(ABCC8):c.3872_3873dup (p.Asn1292fs)
|
rs1953988179
|
|
NM_000352.6(ABCC8):c.3903G>T (p.Leu1301=)
|
rs2133408961
|
|
NM_000352.6(ABCC8):c.3921G>A (p.Gln1307=)
|
|
|
NM_000352.6(ABCC8):c.3926G>A (p.Gly1309Glu)
|
|
|
NM_000352.6(ABCC8):c.3927G>A (p.Gly1309=)
|
rs1409484250
|
|
NM_000352.6(ABCC8):c.3933G>A (p.Val1311=)
|
rs2133408756
|
|
NM_000352.6(ABCC8):c.3936G>A (p.Lys1312=)
|
rs1237687512
|
|
NM_000352.6(ABCC8):c.3942C>T (p.Ile1314=)
|
rs755241300
|
|
NM_000352.6(ABCC8):c.3945T>C (p.His1315=)
|
rs762899017
|
|
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu)
|
rs80356637
|
|
NM_000352.6(ABCC8):c.3952del (p.Leu1317_Leu1318insTer)
|
rs2133408572
|
|
NM_000352.6(ABCC8):c.3960C>G (p.Thr1320=)
|
|
|
NM_000352.6(ABCC8):c.3961G>T (p.Glu1321Ter)
|
rs1953981445
|
|
NM_000352.6(ABCC8):c.3963G>A (p.Glu1321=)
|
rs2133408497
|
|
NM_000352.6(ABCC8):c.3966_3972del (p.Glu1323fs)
|
rs2133408466
|
|
NM_000352.6(ABCC8):c.3967G>A (p.Glu1323Lys)
|
|
|
NM_000352.6(ABCC8):c.3978G>A (p.Glu1326=)
|
|
|
NM_000352.6(ABCC8):c.3984C>G (p.Leu1328=)
|
|
|
NM_000352.6(ABCC8):c.3985C>T (p.Leu1329=)
|
|
|
NM_000352.6(ABCC8):c.3988+11C>G
|
rs1953979149
|
|
NM_000352.6(ABCC8):c.3988+14G>C
|
|
|
NM_000352.6(ABCC8):c.3988+18del
|
|
|
NM_000352.6(ABCC8):c.3988+19G>C
|
rs576340695
|
|
NM_000352.6(ABCC8):c.3988+20G>T
|
|
|
NM_000352.6(ABCC8):c.3989-12C>A
|
|
|
NM_000352.6(ABCC8):c.3989-4C>T
|
rs2133407554
|
|
NM_000352.6(ABCC8):c.3989-8G>A
|
|
|
NM_000352.6(ABCC8):c.398C>G (p.Pro133Arg)
|
|
|
NM_000352.6(ABCC8):c.39C>T (p.Ala13=)
|
|
|
NM_000352.6(ABCC8):c.4001_4019dup (p.Gln1341fs)
|
rs2133407387
|
|
NM_000352.6(ABCC8):c.4011C>T (p.Asn1337=)
|
|
|
NM_000352.6(ABCC8):c.4012T>C (p.Trp1338Arg)
|
rs1554905805
|
|
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter)
|
rs1057516718
|
|
NM_000352.6(ABCC8):c.4026G>A (p.Gly1342=)
|
|
|
NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met)
|
rs886039301
|
|
NM_000352.6(ABCC8):c.4029G>A (p.Lys1343=)
|
rs1953966288
|
|
NM_000352.6(ABCC8):c.4038C>A (p.Ile1346=)
|
rs1363346196
|
|
NM_000352.6(ABCC8):c.4047G>A (p.Leu1349=)
|
|
|
NM_000352.6(ABCC8):c.4050C>T (p.Ser1350=)
|
|
|
NM_000352.6(ABCC8):c.4053G>A (p.Val1351=)
|
rs2133407169
|
|
NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His)
|
rs28936370
|
|
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)
|
rs28936370
|
|
NM_000352.6(ABCC8):c.4057T>C (p.Tyr1353His)
|
|
|
NM_000352.6(ABCC8):c.4059C>A (p.Tyr1353Ter)
|
rs374602183
|
|
NM_000352.6(ABCC8):c.405G>C (p.Leu135=)
|
rs1591916038
|
|
NM_000352.6(ABCC8):c.4062C>T (p.Asp1354=)
|
rs1591714060
|
|
NM_000352.6(ABCC8):c.406C>T (p.Leu136=)
|
rs2133710797
|
|
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
|
|
|
NM_000352.6(ABCC8):c.4089C>T (p.His1363=)
|
rs1211875269
|
|
NM_000352.6(ABCC8):c.408A>G (p.Leu136=)
|
|
|
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)
|
rs138642224
|
|
NM_000352.6(ABCC8):c.4097C>T (p.Ala1366Val)
|
|
|
NM_000352.6(ABCC8):c.4098C>T (p.Ala1366=)
|
|
|
NM_000352.6(ABCC8):c.4101C>T (p.Leu1367=)
|
rs1213265524
|
|
NM_000352.6(ABCC8):c.4105G>A (p.Ala1369Thr)
|
|
|
NM_000352.6(ABCC8):c.4107C>T (p.Ala1369=)
|
|
|
NM_000352.6(ABCC8):c.4119+11G>A
|
|
|
NM_000352.6(ABCC8):c.4119+11G>C
|
|
|
NM_000352.6(ABCC8):c.4119+13G>A
|
|
|
NM_000352.6(ABCC8):c.4119+19C>T
|
|
|
NM_000352.6(ABCC8):c.4119+1del
|
rs1057517050
|
|
NM_000352.6(ABCC8):c.4119+7G>A
|
rs753193265
|
|
NM_000352.6(ABCC8):c.412+239G>A
|
rs60229062
|
|
NM_000352.6(ABCC8):c.412+8A>G
|
rs2133710710
|
|
NM_000352.6(ABCC8):c.4120-144T>A
|
rs143751658
|
|
NM_000352.6(ABCC8):c.4120-8C>G
|
rs2133402775
|
|
NM_000352.6(ABCC8):c.4125G>C (p.Gly1375=)
|
|
|
NM_000352.6(ABCC8):c.413-15A>C
|
|
|
NM_000352.6(ABCC8):c.413-5G>A
|
rs186946111
|
|
NM_000352.6(ABCC8):c.413-5G>C
|
rs186946111
|
|
NM_000352.6(ABCC8):c.413-5G>T
|
rs186946111
|
|
NM_000352.6(ABCC8):c.413-8C>T
|
rs756765109
|
|
NM_000352.6(ABCC8):c.4132G>A (p.Gly1378Ser)
|
rs925231098
|
|
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg)
|
rs925231098
|
|
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys)
|
rs137852673
|
|
NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu)
|
rs193922401
|
|
NM_000352.6(ABCC8):c.4137C>A (p.Arg1379=)
|
rs2133402635
|
|
NM_000352.6(ABCC8):c.4138_4140delinsCA (p.Thr1380fs)
|
rs1953899672
|
|
NM_000352.6(ABCC8):c.4140C>G (p.Thr1380=)
|
rs574684578
|
|
NM_000352.6(ABCC8):c.4140C>T (p.Thr1380=)
|
rs574684578
|
|
NM_000352.6(ABCC8):c.4143C>A (p.Gly1381=)
|
|
|
NM_000352.6(ABCC8):c.4146T>C (p.Ser1382=)
|
|
|
NM_000352.6(ABCC8):c.4147G>C (p.Gly1383Arg)
|
|
|
NM_000352.6(ABCC8):c.4148G>A (p.Gly1383Glu)
|
|
|
NM_000352.6(ABCC8):c.4149G>A (p.Gly1383=)
|
rs2133402516
|
|
NM_000352.6(ABCC8):c.4151_4152del (p.Lys1384fs)
|
rs1554905145
|
|
NM_000352.6(ABCC8):c.4152G>A (p.Lys1384=)
|
rs1250433233
|
|
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro)
|
rs2133402479
|
|
NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del)
|
rs387906408
|
|
NM_000352.6(ABCC8):c.4155C>A (p.Ser1385=)
|
rs1007114942
|
|
NM_000352.6(ABCC8):c.4155C>G (p.Ser1385=)
|
|
|
NM_000352.6(ABCC8):c.4155C>T (p.Ser1385=)
|
rs1007114942
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
NM_000352.6(ABCC8):c.4161C>T (p.Phe1387=)
|
rs2133402417
|
|
NM_000352.6(ABCC8):c.4164T>C (p.Ser1388=)
|
|
|
NM_000352.6(ABCC8):c.4174T>G (p.Phe1392Val)
|
rs587783171
|
|
NM_000352.6(ABCC8):c.4177C>G (p.Arg1393Gly)
|
|
|
NM_000352.6(ABCC8):c.4177C>T (p.Arg1393Cys)
|
|
|
NM_000352.6(ABCC8):c.4178G>T (p.Arg1393Leu)
|
|
|
NM_000352.6(ABCC8):c.417G>A (p.Leu139=)
|
rs2133687795
|
|
NM_000352.6(ABCC8):c.4180A>G (p.Met1394Val)
|
rs562677120
|
|
NM_000352.6(ABCC8):c.4181T>G (p.Met1394Arg)
|
|
|
NM_000352.6(ABCC8):c.4185G>A (p.Val1395=)
|
|
|
NM_000352.6(ABCC8):c.4198+12G>A
|
|
|
NM_000352.6(ABCC8):c.4198+14C>G
|
|
|
NM_000352.6(ABCC8):c.4198+14C>T
|
|
|
NM_000352.6(ABCC8):c.4198+15G>A
|
|
|
NM_000352.6(ABCC8):c.4198+16G>T
|
|
|
NM_000352.6(ABCC8):c.4198+20C>A
|
|
|
NM_000352.6(ABCC8):c.4198+9T>C
|
rs2133402113
|
|
NM_000352.6(ABCC8):c.4199-10A>C
|
|
|
NM_000352.6(ABCC8):c.4199-14T>C
|
|
|
NM_000352.6(ABCC8):c.4199-15C>T
|
|
|
NM_000352.6(ABCC8):c.4199-19del
|
|
|
NM_000352.6(ABCC8):c.4199-20C>T
|
|
|
NM_000352.6(ABCC8):c.4199-2A>G
|
rs1953885548
|
|
NM_000352.6(ABCC8):c.4199-6A>G
|
rs1591710040
|
|
NM_000352.6(ABCC8):c.4199-8C>T
|
rs886048048
|
|
NM_000352.6(ABCC8):c.4199-9C>T
|
rs1234950562
|
|
NM_000352.6(ABCC8):c.4207A>G (p.Ile1403Val)
|
|
|
NM_000352.6(ABCC8):c.4208T>C (p.Ile1403Thr)
|
rs2133401418
|
|
NM_000352.6(ABCC8):c.420G>T (p.Leu140=)
|
rs1399568824
|
|
NM_000352.6(ABCC8):c.4210_4212del (p.Ile1404del)
|
|
|
NM_000352.6(ABCC8):c.4215T>C (p.Asp1405=)
|
rs2133401360
|
|
NM_000352.6(ABCC8):c.4224C>T (p.Asp1408=)
|
rs2133401318
|
|
NM_000352.6(ABCC8):c.4228G>A (p.Ala1410Thr)
|
|
|
NM_000352.6(ABCC8):c.4238C>T (p.Pro1413Leu)
|
|
|
NM_000352.6(ABCC8):c.4239G>A (p.Pro1413=)
|
rs373478721
|
|
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)
|
rs1446306735
|
|
NM_000352.6(ABCC8):c.4257A>T (p.Ser1419=)
|
rs2133401058
|
|
NM_000352.6(ABCC8):c.4258C>A (p.Arg1420Ser)
|
rs28938469
|
|
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)
|
rs28938469
|
|
NM_000352.6(ABCC8):c.4268T>G (p.Ile1423Ser)
|
rs1564874456
|
|
NM_000352.6(ABCC8):c.4269C>A (p.Ile1423=)
|
|
|
NM_000352.6(ABCC8):c.426T>C (p.Tyr142=)
|
rs2133687754
|
|
NM_000352.6(ABCC8):c.4273del (p.Leu1425fs)
|
|
|
NM_000352.6(ABCC8):c.4274T>C (p.Leu1425Pro)
|
rs1953879871
|
|
NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs)
|
rs1554904904
|
|
NM_000352.6(ABCC8):c.4280A>T (p.Asp1427Val)
|
rs1591709652
|
|
NM_000352.6(ABCC8):c.4281C>T (p.Asp1427=)
|
rs1334003978
|
|
NM_000352.6(ABCC8):c.4284C>G (p.Pro1428=)
|
rs986616476
|
|
NM_000352.6(ABCC8):c.4284del (p.Val1429fs)
|
|
|
NM_000352.6(ABCC8):c.4298G>A (p.Gly1433Asp)
|
|
|
NM_000352.6(ABCC8):c.429G>A (p.Trp143Ter)
|
|
|
NM_000352.6(ABCC8):c.4302C>A (p.Thr1434=)
|
|
|
NM_000352.6(ABCC8):c.4307+13A>G
|
rs886048047
|
|
NM_000352.6(ABCC8):c.4307+16C>G
|
|
|
NM_000352.6(ABCC8):c.4307+17C>T
|
|
|
NM_000352.6(ABCC8):c.4307+19C>T
|
|
|
NM_000352.6(ABCC8):c.4307+20del
|
|
|
NM_000352.6(ABCC8):c.4307+9del
|
rs1564874257
|
|
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)
|
rs387906407
|
|
NM_000352.6(ABCC8):c.4308-10C>T
|
rs2133398967
|
|
NM_000352.6(ABCC8):c.4308-19C>T
|
|
|
NM_000352.6(ABCC8):c.4308-56G>C
|
rs739690
|
|
NM_000352.6(ABCC8):c.4317G>A (p.Leu1439=)
|
|
|
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs)
|
rs758844607
|
|
NM_000352.6(ABCC8):c.4326G>A (p.Glu1442=)
|
rs1237313905
|
|
NM_000352.6(ABCC8):c.4329G>A (p.Arg1443=)
|
|
|
NM_000352.6(ABCC8):c.433C>T (p.Leu145=)
|
|
|
NM_000352.6(ABCC8):c.4348C>T (p.Leu1450=)
|
|
|
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)
|
rs1057516404
|
|
NM_000352.6(ABCC8):c.4368C>G (p.Ile1456Met)
|
rs193922403
|
|
NM_000352.6(ABCC8):c.4370C>T (p.Ala1457Val)
|
rs2133398429
|
|
NM_000352.6(ABCC8):c.4372C>G (p.Gln1458Glu)
|
rs2133398414
|
|
NM_000352.6(ABCC8):c.4374G>A (p.Gln1458=)
|
rs2133398398
|
|
NM_000352.6(ABCC8):c.4376T>C (p.Leu1459Pro)
|
|
|
NM_000352.6(ABCC8):c.4380G>A (p.Lys1460=)
|
rs1953845952
|
|
NM_000352.6(ABCC8):c.4389G>T (p.Val1463=)
|
rs1014389339
|
|
NM_000352.6(ABCC8):c.438C>T (p.Ala146=)
|
|
|
NM_000352.6(ABCC8):c.4392G>A (p.Lys1464=)
|
rs2133398226
|
|
NM_000352.6(ABCC8):c.4396C>T (p.Leu1466=)
|
rs774418147
|
|
NM_000352.6(ABCC8):c.4400C>T (p.Pro1467Leu)
|
|
|
NM_000352.6(ABCC8):c.4400del (p.Pro1467fs)
|
|
|
NM_000352.6(ABCC8):c.4407C>A (p.Gly1469=)
|
rs2133398118
|
|
NM_000352.6(ABCC8):c.4411+14G>C
|
|
|
NM_000352.6(ABCC8):c.4411+18T>C
|
|
|
NM_000352.6(ABCC8):c.4411+2T>C
|
rs1953843456
|
|
NM_000352.6(ABCC8):c.4411+8C>T
|
rs2133398070
|
|
NM_000352.6(ABCC8):c.4411G>C (p.Asp1471His)
|
rs72559716
|
|
NM_000352.6(ABCC8):c.4412-10C>T
|
|
|
NM_000352.6(ABCC8):c.4412-13G>A
|
rs1008906426
|
|
NM_000352.6(ABCC8):c.4412-14del
|
|
|
NM_000352.6(ABCC8):c.4412-15C>T
|
|
|
NM_000352.6(ABCC8):c.4412-18T>C
|
|
|
NM_000352.6(ABCC8):c.4412-7T>A
|
|
|
NM_000352.6(ABCC8):c.4413T>C (p.Asp1471=)
|
rs2133395419
|
|
NM_000352.6(ABCC8):c.4419C>T (p.Ile1473=)
|
rs2133395390
|
|
NM_000352.6(ABCC8):c.4429G>C (p.Gly1477Arg)
|
|
|
NM_000352.6(ABCC8):c.4431C>A (p.Gly1477=)
|
rs145673861
|
|
NM_000352.6(ABCC8):c.4434G>A (p.Gly1478=)
|
rs1953794808
|
|
NM_000352.6(ABCC8):c.4434G>C (p.Gly1478=)
|
rs1953794808
|
|
NM_000352.6(ABCC8):c.4437G>A (p.Glu1479=)
|
|
|
NM_000352.6(ABCC8):c.4439A>C (p.Asn1480Thr)
|
rs2133395261
|
|
NM_000352.6(ABCC8):c.4443C>T (p.Phe1481=)
|
rs2133395252
|
|
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg)
|
rs1554904107
|
|
NM_000352.6(ABCC8):c.4456_4457del (p.Arg1486fs)
|
rs863225279
|
|
NM_000352.6(ABCC8):c.4464G>C (p.Leu1488=)
|
|
|
NM_000352.6(ABCC8):c.4467C>T (p.Phe1489=)
|
rs1453693995
|
|
NM_000352.6(ABCC8):c.4470C>T (p.Cys1490=)
|
|
|
NM_000352.6(ABCC8):c.4477del (p.Arg1493fs)
|
rs1953791177
|
|
NM_000352.6(ABCC8):c.4478G>C (p.Arg1493Pro)
|
rs746480424
|
|
NM_000352.6(ABCC8):c.447C>T (p.Thr149=)
|
rs1847960688
|
|
NM_000352.6(ABCC8):c.4488G>A (p.Val1496=)
|
rs2133394964
|
|
NM_000352.6(ABCC8):c.4491G>A (p.Arg1497=)
|
|
|
NM_000352.6(ABCC8):c.4494G>A (p.Lys1498=)
|
|
|
NM_000352.6(ABCC8):c.4513G>A (p.Asp1505Asn)
|
rs2133394860
|
|
NM_000352.6(ABCC8):c.4515C>G (p.Asp1505Glu)
|
rs751591418
|
|
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)
|
rs137852671
|
|
NM_000352.6(ABCC8):c.4518G>A (p.Glu1506=)
|
|
|
NM_000352.6(ABCC8):c.4521C>T (p.Ala1507=)
|
rs1391041542
|
|
NM_000352.6(ABCC8):c.4532T>A (p.Ile1511Asn)
|
rs2133394768
|
|
NM_000352.6(ABCC8):c.4532T>C (p.Ile1511Thr)
|
|
|
NM_000352.6(ABCC8):c.4533T>A (p.Ile1511=)
|
|
|
NM_000352.6(ABCC8):c.4536C>T (p.Asp1512=)
|
|
|
NM_000352.6(ABCC8):c.453C>T (p.Thr151=)
|
|
|
NM_000352.6(ABCC8):c.4544C>T (p.Thr1515Met)
|
rs769989185
|
|
NM_000352.6(ABCC8):c.4545+11G>A
|
|
|
NM_000352.6(ABCC8):c.4545+13C>A
|
|
|
NM_000352.6(ABCC8):c.4545+14C>G
|
|
|
NM_000352.6(ABCC8):c.4545+16C>T
|
|
|
NM_000352.6(ABCC8):c.4545+19C>G
|
|
|
NM_000352.6(ABCC8):c.4545+1G>C
|
|
|
NM_000352.6(ABCC8):c.4545+1del
|
rs2133394678
|
|
NM_000352.6(ABCC8):c.4546-10C>A
|
|
|
NM_000352.6(ABCC8):c.4546-12C>T
|
|
|
NM_000352.6(ABCC8):c.4546-13C>A
|
|
|
NM_000352.6(ABCC8):c.4546-14C>T
|
|
|
NM_000352.6(ABCC8):c.4546-18G>A
|
|
|
NM_000352.6(ABCC8):c.4546-1G>A
|
|
|
NM_000352.6(ABCC8):c.4546-6T>A
|
rs2133393272
|
|
NM_000352.6(ABCC8):c.4546-8C>T
|
rs1273503048
|
|
NM_000352.6(ABCC8):c.4547A>G (p.Glu1516Gly)
|
rs2133393241
|
|
NM_000352.6(ABCC8):c.4555C>T (p.Leu1519Phe)
|
rs2133393193
|
|
NM_000352.6(ABCC8):c.4588del (p.Arg1530fs)
|
rs2133393098
|
|
NM_000352.6(ABCC8):c.4593T>A (p.Thr1531=)
|
rs1591703934
|
|
NM_000352.6(ABCC8):c.4593T>C (p.Thr1531=)
|
rs1591703934
|
|
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)
|
rs758231286
|
|
NM_000352.6(ABCC8):c.4601C>A (p.Thr1534Asn)
|
|
|
NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=)
|
rs780203284
|
|
NM_000352.6(ABCC8):c.4606G>A (p.Ala1536Thr)
|
|
|
NM_000352.6(ABCC8):c.4608+11C>T
|
|
|
NM_000352.6(ABCC8):c.4608+13T>C
|
|
|
NM_000352.6(ABCC8):c.4608+18G>A
|
|
|
NM_000352.6(ABCC8):c.4608+1G>A
|
rs2133392952
|
|
NM_000352.6(ABCC8):c.4608+20G>A
|
|
|
NM_000352.6(ABCC8):c.4608+7G>A
|
|
|
NM_000352.6(ABCC8):c.4608+8del
|
|
|
NM_000352.6(ABCC8):c.4608+9C>A
|
rs757297282
|
|
NM_000352.6(ABCC8):c.4608+9C>T
|
|
|
NM_000352.6(ABCC8):c.4609-103del
|
rs1799731
|
|
NM_000352.6(ABCC8):c.4609-10C>T
|
rs2133390334
|
|
NM_000352.6(ABCC8):c.4609-16C>T
|
|
|
NM_000352.6(ABCC8):c.4609-16del
|
|
|
NM_000352.6(ABCC8):c.4609-17C>T
|
|
|
NM_000352.6(ABCC8):c.4609-20C>A
|
|
|
NM_000352.6(ABCC8):c.4609-7_4609-3del
|
|
|
NM_000352.6(ABCC8):c.460T>G (p.Phe154Val)
|
rs2133687586
|
|
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)
|
rs1411638309
|
|
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln)
|
rs1564869850
|
|
NM_000352.6(ABCC8):c.4614A>T (p.Arg1538=)
|
|
|
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met)
|
rs193922408
|
|
NM_000352.6(ABCC8):c.4620C>T (p.His1540=)
|
|
|
NM_000352.6(ABCC8):c.4623C>T (p.Thr1541=)
|
|
|
NM_000352.6(ABCC8):c.4650C>T (p.Val1550=)
|
|
|
NM_000352.6(ABCC8):c.4651C>T (p.Leu1551=)
|
|
|
NM_000352.6(ABCC8):c.4653G>T (p.Leu1551=)
|
|
|
NM_000352.6(ABCC8):c.4657C>T (p.Arg1553Trp)
|
|
|
NM_000352.6(ABCC8):c.4659G>C (p.Arg1553=)
|
rs2133390140
|
|
NM_000352.6(ABCC8):c.4661G>A (p.Gly1554Asp)
|
|
|
NM_000352.6(ABCC8):c.4661G>T (p.Gly1554Val)
|
|
|
NM_000352.6(ABCC8):c.4662T>C (p.Gly1554=)
|
|
|
NM_000352.6(ABCC8):c.4671T>C (p.Leu1557=)
|
|
|
NM_000352.6(ABCC8):c.4674G>A (p.Glu1558=)
|
rs2133390078
|
|
NM_000352.6(ABCC8):c.4674G>C (p.Glu1558Asp)
|
|
|
NM_000352.6(ABCC8):c.4683G>A (p.Lys1561=)
|
|
|
NM_000352.6(ABCC8):c.4686A>G (p.Pro1562=)
|
|
|
NM_000352.6(ABCC8):c.4698C>T (p.Leu1566=)
|
|
|
NM_000352.6(ABCC8):c.4702C>A (p.Arg1568=)
|
|
|
NM_000352.6(ABCC8):c.4704G>A (p.Arg1568=)
|
|
|
NM_000352.6(ABCC8):c.4704G>C (p.Arg1568=)
|
|
|
NM_000352.6(ABCC8):c.4707G>A (p.Lys1569=)
|
rs192371917
|
|
NM_000352.6(ABCC8):c.4710C>T (p.Asp1570=)
|
|
|
NM_000352.6(ABCC8):c.4722C>G (p.Ala1574=)
|
|
|
NM_000352.6(ABCC8):c.4729G>A (p.Val1577Ile)
|
|
|
NM_000352.6(ABCC8):c.4733G>C (p.Arg1578Pro)
|
|
|
NM_000352.6(ABCC8):c.483C>T (p.Ala161=)
|
|
|
NM_000352.6(ABCC8):c.486C>A (p.Ile162=)
|
|
|
NM_000352.6(ABCC8):c.494C>A (p.Ser165Ter)
|
rs758754046
|
|
NM_000352.6(ABCC8):c.496C>T (p.Gln166Ter)
|
rs1591896370
|
|
NM_000352.6(ABCC8):c.498G>A (p.Gln166=)
|
|
|
NM_000352.6(ABCC8):c.501A>G (p.Leu167=)
|
rs1426055182
|
|
NM_000352.6(ABCC8):c.501A>T (p.Leu167=)
|
rs1426055182
|
|
NM_000352.6(ABCC8):c.503G>C (p.Arg168Pro)
|
rs1002070797
|
|
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala)
|
rs764950519
|
|
NM_000352.6(ABCC8):c.522G>T (p.Leu174=)
|
|
|
NM_000352.6(ABCC8):c.525G>C (p.Leu175=)
|
rs1847952465
|
|
NM_000352.6(ABCC8):c.528G>T (p.Val176=)
|
|
|
NM_000352.6(ABCC8):c.534C>T (p.Leu178=)
|
rs2133687056
|
|
NM_000352.6(ABCC8):c.536A>G (p.Tyr179Cys)
|
rs919281813
|
|
NM_000352.6(ABCC8):c.536_539del (p.Leu178_Tyr179insTer)
|
rs770664202
|
|
NM_000352.6(ABCC8):c.544del (p.Leu182fs)
|
rs2133686985
|
|
NM_000352.6(ABCC8):c.546G>A (p.Leu182=)
|
rs1591896019
|
|
NM_000352.6(ABCC8):c.553G>A (p.Val185Met)
|
|
|
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)
|
rs797045213
|
|
NM_000352.6(ABCC8):c.56del (p.Gln19fs)
|
rs2133738006
|
|
NM_000352.6(ABCC8):c.576G>A (p.Val192=)
|
rs2133686785
|
|
NM_000352.6(ABCC8):c.579+11C>T
|
|
|
NM_000352.6(ABCC8):c.579+15T>A
|
|
|
NM_000352.6(ABCC8):c.579+15T>C
|
|
|
NM_000352.6(ABCC8):c.579+19C>T
|
|
|
NM_000352.6(ABCC8):c.579+1G>A
|
|
|
NM_000352.6(ABCC8):c.579+2T>C
|
rs1449198328
|
|
NM_000352.6(ABCC8):c.580-15C>G
|
|
|
NM_000352.6(ABCC8):c.580-16_580-14del
|
|
|
NM_000352.6(ABCC8):c.580-17G>A
|
|
|
NM_000352.6(ABCC8):c.580-20A>G
|
|
|
NM_000352.6(ABCC8):c.580-5C>T
|
|
|
NM_000352.6(ABCC8):c.580-7C>A
|
rs771196330
|
|
NM_000352.6(ABCC8):c.580-7C>T
|
rs771196330
|
|
NM_000352.6(ABCC8):c.582A>G (p.Arg194=)
|
|
|
NM_000352.6(ABCC8):c.588C>A (p.Ile196=)
|
rs2133680708
|
|
NM_000352.6(ABCC8):c.594C>T (p.Phe198=)
|
|
|
NM_000352.6(ABCC8):c.609G>A (p.Glu203=)
|
rs267602802
|
|
NM_000352.6(ABCC8):c.60G>A (p.Gly20=)
|
rs775688352
|
|
NM_000352.6(ABCC8):c.61G>T (p.Val21Phe)
|
|
|
NM_000352.6(ABCC8):c.621C>A (p.Pro207=)
|
rs765043940
|
|
NM_000352.6(ABCC8):c.622G>A (p.Glu208Lys)
|
rs2133680513
|
|
NM_000352.6(ABCC8):c.625G>A (p.Asp209Asn)
|
rs2133680501
|
|
NM_000352.6(ABCC8):c.628C>T (p.Leu210=)
|
|
|
NM_000352.6(ABCC8):c.631C>A (p.Gln211Lys)
|
rs193929366
|
|
NM_000352.6(ABCC8):c.639G>A (p.Leu213=)
|
rs1483834388
|
|
NM_000352.6(ABCC8):c.639G>C (p.Leu213=)
|
rs1483834388
|
|
NM_000352.6(ABCC8):c.63C>A (p.Val21=)
|
|
|
NM_000352.6(ABCC8):c.640G>A (p.Gly214Arg)
|
rs1274656446
|
|
NM_000352.6(ABCC8):c.643del (p.Val215fs)
|
rs1957201685
|
|
NM_000352.6(ABCC8):c.645A>G (p.Val215=)
|
rs759728510
|
|
NM_000352.6(ABCC8):c.647G>C (p.Arg216Pro)
|
|
|
NM_000352.6(ABCC8):c.652C>T (p.Leu218=)
|
|
|
NM_000352.6(ABCC8):c.653T>C (p.Leu218Pro)
|
rs2133680172
|
|
NM_000352.6(ABCC8):c.654G>A (p.Leu218=)
|
|
|
NM_000352.6(ABCC8):c.655C>T (p.Gln219Ter)
|
rs2133680142
|
|
NM_000352.6(ABCC8):c.657G>A (p.Gln219=)
|
|
|
NM_000352.6(ABCC8):c.663C>T (p.Phe221=)
|
rs770293918
|
|
NM_000352.6(ABCC8):c.678C>T (p.Ser226=)
|
rs2133679955
|
|
NM_000352.6(ABCC8):c.67A>C (p.Asn23His)
|
|
|
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)
|
rs863225280
|
|
NM_000352.6(ABCC8):c.685A>G (p.Thr229Ala)
|
|
|
NM_000352.6(ABCC8):c.687C>T (p.Thr229=)
|
|
|
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)
|
rs1564977373
|
|
NM_000352.6(ABCC8):c.696G>A (p.Trp232Ter)
|
rs2133679771
|
|
NM_000352.6(ABCC8):c.6C>T (p.Pro2=)
|
|
|
NM_000352.6(ABCC8):c.725del (p.Lys242fs)
|
rs1957196622
|
|
NM_000352.6(ABCC8):c.72C>A (p.Asn24Lys)
|
rs771075821
|
|
NM_000352.6(ABCC8):c.72C>T (p.Asn24=)
|
rs771075821
|
|
NM_000352.6(ABCC8):c.741G>A (p.Leu247=)
|
rs2133679465
|
|
NM_000352.6(ABCC8):c.750C>A (p.Ile250=)
|
rs566527939
|
|
NM_000352.6(ABCC8):c.757C>T (p.Leu253=)
|
rs1191286588
|
|
NM_000352.6(ABCC8):c.759G>A (p.Leu253=)
|
|
|
NM_000352.6(ABCC8):c.762C>T (p.Pro254=)
|
rs2133679286
|
|
NM_000352.6(ABCC8):c.768C>T (p.Ala256=)
|
rs1048093
|
|
NM_000352.6(ABCC8):c.76del (p.Cys26fs)
|
rs2133737797
|
|
NM_000352.6(ABCC8):c.790C>T (p.Gln264Ter)
|
rs2133679133
|
|
NM_000352.6(ABCC8):c.795G>A (p.Arg265=)
|
rs1386314454
|
|
NM_000352.6(ABCC8):c.795G>T (p.Arg265=)
|
rs1386314454
|
|
NM_000352.6(ABCC8):c.797T>C (p.Leu266Pro)
|
|
|
NM_000352.6(ABCC8):c.79T>G (p.Phe27Val)
|
rs1202763483
|
|
NM_000352.6(ABCC8):c.801C>T (p.Cys267=)
|
|
|
NM_000352.6(ABCC8):c.804G>A (p.Glu268=)
|
|
|
NM_000352.6(ABCC8):c.805del (p.Ala269fs)
|
rs1564976749
|
|
NM_000352.6(ABCC8):c.806C>T (p.Ala269Val)
|
rs372930264
|
|
NM_000352.6(ABCC8):c.80T>C (p.Phe27Ser)
|
|
|
NM_000352.6(ABCC8):c.817del (p.Gln273fs)
|
rs2133678848
|
|
NM_000352.6(ABCC8):c.81dup (p.Val28fs)
|
rs2133737748
|
|
NM_000352.6(ABCC8):c.822+11G>A
|
|
|
NM_000352.6(ABCC8):c.822+14C>A
|
|
|
NM_000352.6(ABCC8):c.822+15A>G
|
|
|
NM_000352.6(ABCC8):c.822+16G>A
|
|
|
NM_000352.6(ABCC8):c.822+18C>G
|
|
|
NM_000352.6(ABCC8):c.822+2T>C
|
|
|
NM_000352.6(ABCC8):c.822+8G>A
|
|
|
NM_000352.6(ABCC8):c.822+9G>A
|
rs1007498516
|
|
NM_000352.6(ABCC8):c.823-10C>T
|
rs1276799856
|
|
NM_000352.6(ABCC8):c.823-14G>T
|
|
|
NM_000352.6(ABCC8):c.823-17A>G
|
|
|
NM_000352.6(ABCC8):c.823-19C>T
|
|
|
NM_000352.6(ABCC8):c.823-49G>A
|
rs146679656
|
|
NM_000352.6(ABCC8):c.823-4G>A
|
|
|
NM_000352.6(ABCC8):c.823C>T (p.Arg275Trp)
|
|
|
NM_000352.6(ABCC8):c.825G>C (p.Arg275=)
|
|
|
NM_000352.6(ABCC8):c.828G>A (p.Lys276=)
|
|
|
NM_000352.6(ABCC8):c.843T>C (p.Thr281=)
|
|
|
NM_000352.6(ABCC8):c.849T>C (p.Gly283=)
|
|
|
NM_000352.6(ABCC8):c.84G>A (p.Val28=)
|
|
|
NM_000352.6(ABCC8):c.851C>T (p.Ala284Val)
|
|
|
NM_000352.6(ABCC8):c.854G>A (p.Arg285Gln)
|
|
|
NM_000352.6(ABCC8):c.856dup (p.Ala286fs)
|
|
|
NM_000352.6(ABCC8):c.863G>A (p.Trp288Ter)
|
rs2133675152
|
|
NM_000352.6(ABCC8):c.867G>A (p.Gln289=)
|
|
|
NM_000352.6(ABCC8):c.873C>G (p.Leu291=)
|
rs2133675101
|
|
NM_000352.6(ABCC8):c.876C>T (p.Ser292=)
|
|
|
NM_000352.6(ABCC8):c.895C>T (p.Leu299=)
|
rs2133674906
|
|
NM_000352.6(ABCC8):c.897G>A (p.Leu299=)
|
rs2133674894
|
|
NM_000352.6(ABCC8):c.8del (p.Leu3fs)
|
rs940471335
|
|
NM_000352.6(ABCC8):c.90G>T (p.Ala30=)
|
|
|
NM_000352.6(ABCC8):c.916C>A (p.Arg306Ser)
|
rs751228166
|
|
NM_000352.6(ABCC8):c.916C>T (p.Arg306Cys)
|
|
|
NM_000352.6(ABCC8):c.917G>A (p.Arg306His)
|
rs1409900082
|
|
NM_000352.6(ABCC8):c.917G>T (p.Arg306Leu)
|
|
|
NM_000352.6(ABCC8):c.921C>A (p.Ile307=)
|
|
|
NM_000352.6(ABCC8):c.921C>T (p.Ile307=)
|
|
|
NM_000352.6(ABCC8):c.922T>C (p.Leu308=)
|
|
|
NM_000352.6(ABCC8):c.927C>G (p.Ala309=)
|
|
|
NM_000352.6(ABCC8):c.933G>T (p.Leu311=)
|
|
|
NM_000352.6(ABCC8):c.939C>T (p.Gly313=)
|
rs2133674606
|
|
NM_000352.6(ABCC8):c.951A>G (p.Pro317=)
|
rs1591885314
|
|
NM_000352.6(ABCC8):c.952C>T (p.Leu318=)
|
rs2133674471
|
|
NM_000352.6(ABCC8):c.954G>A (p.Leu318=)
|
rs771014822
|
|
NM_000352.6(ABCC8):c.954G>C (p.Leu318=)
|
rs771014822
|
|
NM_000352.6(ABCC8):c.957C>T (p.Cys319=)
|
|
|
NM_000352.6(ABCC8):c.95A>G (p.Asn32Ser)
|
|
|
NM_000352.6(ABCC8):c.960C>T (p.Ile320=)
|
rs941342929
|
|
NM_000352.6(ABCC8):c.96C>G (p.Asn32Lys)
|
|
|
NM_000352.6(ABCC8):c.975C>T (p.Asp325=)
|
rs1752153530
|
|
NM_000352.6(ABCC8):c.984G>T (p.Gly328=)
|
|
|
NM_000352.6(ABCC8):c.990G>A (p.Glu330=)
|
rs45522932
|
|
NM_000352.6(ABCC8):c.996C>T (p.Asp332=)
|
rs538923562
|
|
NM_000352.6(ABCC8):c.99G>C (p.Val33=)
|
|
|