NM_000352.6(ABCC8):c.2390+219T>C
|
rs4148632
|
0.89524
|
NM_000352.6(ABCC8):c.2256-50T>C
|
rs4148626
|
0.89459
|
NM_005327.7(HADH):c.257T>C (p.Leu86Pro)
|
rs4956145
|
0.86661
|
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu)
|
rs5219
|
0.72048
|
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser)
|
rs757110
|
0.71935
|
NM_000352.6(ABCC8):c.4608+54G>C
|
rs4148646
|
0.71546
|
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile)
|
rs5215
|
0.71351
|
NM_000352.6(ABCC8):c.2390+123C>T
|
rs4148631
|
0.70926
|
NM_000352.6(ABCC8):c.2390+93C>T
|
rs4148630
|
0.70902
|
NM_003051.4(SLC16A1):c.1470T>A (p.Asp490Glu)
|
rs1049434
|
0.66103
|
NM_003051.4(SLC16A1):c.*1414C>T
|
rs7169
|
0.66095
|
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.4120-27T>C
|
rs739689
|
0.45032
|
NM_000525.4(KCNJ11):c.*215C>T
|
rs5210
|
0.44390
|
NM_000352.6(ABCC8):c.1686C>T (p.His562=)
|
rs1799857
|
0.44260
|
NM_000525.4(KCNJ11):c.*441T>C
|
rs2285676
|
0.43747
|
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=)
|
rs1799859
|
0.39734
|
NM_000352.6(ABCC8):c.2117-3C>T
|
rs1799854
|
0.36733
|
NM_000352.6(ABCC8):c.4609-40A>G
|
rs1109591
|
0.36421
|
NM_000162.5(GCK):c.1253+8C>T
|
rs2908274
|
0.34109
|
NM_003051.4(SLC16A1):c.*1942T>C
|
rs9429505
|
0.31556
|
NM_003051.4(SLC16A1):c.362-21A>C
|
rs201021807
|
0.26702
|
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=)
|
rs5218
|
0.22765
|
NM_000352.6(ABCC8):c.4119+93G>T
|
rs4148644
|
0.21307
|
NM_000162.5(GCK):c.*332G>A
|
rs13306388
|
0.18894
|
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_005327.7(HADH):c.-38T>C
|
rs17550794
|
0.13904
|
NM_005327.7(HADH):c.257= (p.Leu86=)
|
rs4956145
|
0.13339
|
NM_005271.5(GLUD1):c.942A>G (p.Leu314=)
|
rs9421572
|
0.08685
|
NM_005327.7(HADH):c.*109T>A
|
rs221347
|
0.07950
|
NM_000352.6(ABCC8):c.330C>T (p.Ala110=)
|
rs8192695
|
0.06691
|
NM_000162.5(GCK):c.-84C>G
|
rs13306391
|
0.06548
|
NM_000162.5(GCK):c.*477C>T
|
rs2908275
|
0.06179
|
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile)
|
rs8192690
|
0.05059
|
NM_005327.7(HADH):c.636+13G>A
|
rs17511214
|
0.04139
|
NM_005327.4(HADH):c.*818A>G
|
rs17511319
|
0.03973
|
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)
|
rs1800467
|
0.03859
|
NM_000352.6(ABCC8):c.-49G>C
|
rs77498130
|
0.03452
|
NM_005271.5(GLUD1):c.1060-10T>A
|
rs17096421
|
0.03225
|
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=)
|
rs1801261
|
0.02724
|
NM_005327.4(HADH):c.-71C>T
|
rs760202
|
0.02185
|
NM_005327.4(HADH):c.-193G>A
|
rs10017687
|
0.02168
|
NM_000162.5(GCK):c.*797C>T
|
rs2908276
|
0.01885
|
NM_003051.4(SLC16A1):c.*145T>G
|
rs11585690
|
0.01723
|
NM_000352.6(ABCC8):c.-19A>G
|
rs193922394
|
0.01648
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
NM_005271.5(GLUD1):c.342T>C (p.His114=)
|
rs142544510
|
0.01392
|
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=)
|
rs60824529
|
0.01375
|
NM_000352.6(ABCC8):c.4120-19C>T
|
rs1800853
|
0.01325
|
NM_000352.6(ABCC8):c.3329+6C>T
|
rs113873225
|
0.01304
|
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=)
|
rs8175351
|
0.01289
|
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=)
|
rs149861153
|
0.01269
|
NM_003051.4(SLC16A1):c.*1876G>C
|
rs11811205
|
0.01235
|
NM_003051.4(SLC16A1):c.*332T>C
|
rs41306207
|
0.01211
|
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=)
|
rs73419228
|
0.01181
|
NM_000525.4(KCNJ11):c.*376C>T
|
rs5208
|
0.01164
|
NM_005327.4(HADH):c.-65G>A
|
rs28703310
|
0.01115
|
NM_000352.6(ABCC8):c.2538C>T (p.His846=)
|
rs73423037
|
0.01028
|
NM_000352.6(ABCC8):c.423G>A (p.Val141=)
|
rs116132921
|
0.01009
|
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)
|
rs41282930
|
0.00987
|
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)
|
rs61748766
|
0.00948
|
NM_005271.5(GLUD1):c.*852A>G
|
rs150260124
|
0.00846
|
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn)
|
rs139579928
|
0.00843
|
NM_000525.4(KCNJ11):c.*76G>A
|
rs193076739
|
0.00819
|
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=)
|
rs141844887
|
0.00818
|
NM_005271.5(GLUD1):c.*908T>C
|
rs140942830
|
0.00817
|
NM_005327.7(HADH):c.881A>G (p.Asn294Ser)
|
rs36030668
|
0.00738
|
NM_000525.4(KCNJ11):c.*766G>A
|
rs193101892
|
0.00683
|
NM_000162.5(GCK):c.645C>T (p.Tyr215=)
|
rs144723656
|
0.00682
|
NM_000525.4(KCNJ11):c.*92C>T
|
rs5212
|
0.00626
|
NM_003051.4(SLC16A1):c.1002G>A (p.Ala334=)
|
rs114731222
|
0.00609
|
NM_000525.4(KCNJ11):c.*288G>A
|
rs5209
|
0.00590
|
NM_000525.4(KCNJ11):c.*487A>G
|
rs79457490
|
0.00588
|
NM_005327.7(HADH):c.275T>G (p.Phe92Cys)
|
rs61735992
|
0.00516
|
NM_000525.4(KCNJ11):c.*529G>A
|
rs115826080
|
0.00510
|
NM_000525.4(KCNJ11):c.108G>A (p.Val36=)
|
rs112070496
|
0.00509
|
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)
|
rs113282901
|
0.00497
|
NM_000162.5(GCK):c.339C>T (p.Asp113=)
|
rs149412035
|
0.00451
|
NM_000352.6(ABCC8):c.354C>T (p.Val118=)
|
rs137873871
|
0.00434
|
NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val)
|
rs116216229
|
0.00409
|
NM_000162.5(GCK):c.618G>A (p.Thr206=)
|
rs142817246
|
0.00400
|
NM_000525.4(KCNJ11):c.*1168G>A
|
rs182349583
|
0.00391
|
NM_000162.5(GCK):c.*92C>A
|
rs557990162
|
0.00389
|
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)
|
rs58820146
|
0.00381
|
NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
NM_005327.4(HADH):c.-102G>A
|
rs182097151
|
0.00354
|
NM_000525.4(KCNJ11):c.-498T>C
|
rs529946415
|
0.00352
|
NM_005271.5(GLUD1):c.*972G>A
|
rs12980
|
0.00335
|
NM_000525.4(KCNJ11):c.*686A>G
|
rs147282653
|
0.00324
|
NM_000162.5(GCK):c.1019+18G>A
|
rs150914617
|
0.00322
|
NM_000162.5(GCK):c.46-12C>T
|
rs142829768
|
0.00296
|
NM_000525.4(KCNJ11):c.*848A>G
|
rs5206
|
0.00291
|
NM_000162.5(GCK):c.954G>C (p.Gly318=)
|
rs145764627
|
0.00287
|
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_003051.4(SLC16A1):c.*1281T>G
|
rs184445532
|
0.00263
|
NM_000162.5(GCK):c.209-8G>A
|
rs144798843
|
0.00249
|
NM_000162.5(GCK):c.*356G>A
|
rs146107173
|
0.00247
|
NM_000162.5(GCK):c.333C>T (p.Pro111=)
|
rs61736250
|
0.00235
|
NM_005271.5(GLUD1):c.909A>C (p.Thr303=)
|
rs113997422
|
0.00222
|
NM_003051.4(SLC16A1):c.-92G>T
|
rs144301005
|
0.00214
|
NM_005271.5(GLUD1):c.*1282G>C
|
rs181931207
|
0.00208
|
NM_000352.6(ABCC8):c.2391-17G>T
|
rs201484528
|
0.00206
|
NM_005327.7(HADH):c.643C>A (p.Pro215Thr)
|
rs140413151
|
0.00198
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
NM_003051.4(SLC16A1):c.*629C>T
|
rs540946001
|
0.00189
|
NM_000525.4(KCNJ11):c.*1197G>A
|
rs191682072
|
0.00187
|
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=)
|
rs143276279
|
0.00187
|
NM_000352.6(ABCC8):c.3399+13G>A
|
rs182340196
|
0.00160
|
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His)
|
rs5217
|
0.00131
|
NM_003051.4(SLC16A1):c.*948G>A
|
rs543171131
|
0.00129
|
NM_000352.6(ABCC8):c.1332+4del
|
rs587783164
|
0.00128
|
NM_003051.4(SLC16A1):c.*104C>T
|
rs182505461
|
0.00128
|
NM_000162.5(GCK):c.208+11G>A
|
rs77440690
|
0.00124
|
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=)
|
rs138141427
|
0.00121
|
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=)
|
rs5214
|
0.00120
|
NM_000162.5(GCK):c.364-18A>G
|
rs191255582
|
0.00118
|
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)
|
rs111967655
|
0.00116
|
NM_000525.4(KCNJ11):c.*862G>T
|
rs547635594
|
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_000162.5(GCK):c.-455A>G
|
rs140894490
|
0.00101
|
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)
|
rs117874766
|
0.00097
|
NM_000162.5(GCK):c.*847G>A
|
rs76374134
|
0.00096
|
NM_003051.3(SLC16A1):c.-349G>A
|
rs750771668
|
0.00086
|
NM_005327.7(HADH):c.*377G>A
|
rs148809781
|
0.00084
|
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)
|
rs147623093
|
0.00083
|
NM_005327.7(HADH):c.614G>C (p.Gly205Ala)
|
rs144699575
|
0.00079
|
NM_005327.7(HADH):c.*600C>T
|
rs544321475
|
0.00077
|
NM_005327.4(HADH):c.-51delC
|
rs574132278
|
0.00074
|
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_005271.5(GLUD1):c.*1501G>C
|
rs768450394
|
0.00068
|
NM_000162.5(GCK):c.-215A>G
|
rs13306390
|
0.00065
|
NM_005327.7(HADH):c.*168A>T
|
rs532458283
|
0.00062
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
NM_003051.4(SLC16A1):c.*1654A>G
|
rs761298128
|
0.00056
|
NM_005327.4(HADH):c.-115delG
|
rs537335460
|
0.00053
|
NM_000162.5(GCK):c.*510C>T
|
rs141645300
|
0.00050
|
NM_000162.5(GCK):c.-453C>T
|
rs191795044
|
0.00049
|
NM_000352.6(ABCC8):c.3867+7G>A
|
rs372198547
|
0.00049
|
NM_005327.4(HADH):c.-203A>G
|
rs376591232
|
0.00049
|
NM_000162.5(GCK):c.483+26C>A
|
rs142668032
|
0.00048
|
NM_003051.4(SLC16A1):c.*516C>G
|
rs754537571
|
0.00048
|
NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile)
|
rs536012651
|
0.00048
|
NM_000162.5(GCK):c.*11C>T
|
rs200698755
|
0.00046
|
NM_000162.5(GCK):c.46-5598A>T
|
rs13306393
|
0.00046
|
NM_000525.4(KCNJ11):c.-546G>T
|
rs886048045
|
0.00041
|
NM_003051.3(SLC16A1):c.-248G>T
|
rs762453730
|
0.00041
|
NM_000162.5(GCK):c.*735C>A
|
rs556996030
|
0.00038
|
NM_000162.5(GCK):c.*764C>T
|
rs185418856
|
0.00038
|
NM_000352.6(ABCC8):c.486C>T (p.Ile162=)
|
rs149872185
|
0.00038
|
NM_000525.4(KCNJ11):c.852C>A (p.Ile284=)
|
rs1800854
|
0.00038
|
NM_005327.7(HADH):c.99C>G (p.Ile33Met)
|
rs74428123
|
0.00038
|
NM_000352.6(ABCC8):c.2390+17G>C
|
rs200705248
|
0.00035
|
NM_005327.7(HADH):c.349G>C (p.Val117Leu)
|
rs146732064
|
0.00035
|
NM_003051.4(SLC16A1):c.441C>T (p.Asn147=)
|
rs150246870
|
0.00031
|
NM_005271.5(GLUD1):c.*1379C>T
|
rs181813972
|
0.00030
|
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)
|
rs116392938
|
0.00029
|
NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser)
|
rs77373295
|
0.00029
|
NM_000352.6(ABCC8):c.1923+3G>A
|
rs374869130
|
0.00028
|
NM_005271.5(GLUD1):c.393C>G (p.Val131=)
|
rs147496974
|
0.00028
|
NM_003051.4(SLC16A1):c.*1624A>G
|
rs140456426
|
0.00027
|
NM_000525.4(KCNJ11):c.-154G>T
|
rs539975714
|
0.00026
|
NM_000162.5(GCK):c.208+17G>A
|
rs199822205
|
0.00024
|
NM_000352.6(ABCC8):c.105G>A (p.Pro35=)
|
rs199925058
|
0.00024
|
NM_000352.6(ABCC8):c.1630+8C>T
|
rs200053398
|
0.00024
|
NM_005271.5(GLUD1):c.*1419T>G
|
rs895697576
|
0.00024
|
NM_000162.5(GCK):c.-102G>A
|
rs781377703
|
0.00023
|
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_003051.3(SLC16A1):c.-360G>A
|
rs758825428
|
0.00022
|
NM_005271.5(GLUD1):c.*970A>G
|
rs760207211
|
0.00022
|
NM_003051.4(SLC16A1):c.-201T>A
|
rs753315328
|
0.00021
|
NM_003051.4(SLC16A1):c.1367A>T (p.Glu456Val)
|
rs554138665
|
0.00021
|
NM_005271.5(GLUD1):c.150G>C (p.Arg50=)
|
rs746606279
|
0.00021
|
NM_005327.7(HADH):c.*514A>G
|
rs183594888
|
0.00020
|
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met)
|
rs4148619
|
0.00019
|
NM_000352.6(ABCC8):c.3989-9G>A
|
rs151344623
|
0.00019
|
NM_005327.7(HADH):c.809C>T (p.Thr270Met)
|
rs577954688
|
0.00017
|
NM_000352.6(ABCC8):c.1919C>T (p.Ala640Val)
|
rs369049969
|
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_000525.4(KCNJ11):c.*546G>A
|
rs886048037
|
0.00016
|
NM_005271.5(GLUD1):c.1402+10G>A
|
rs202067232
|
0.00016
|
NM_005327.7(HADH):c.255C>T (p.Asn85=)
|
rs746650397
|
0.00016
|
NM_005271.5(GLUD1):c.1403-11T>C
|
rs886047374
|
0.00015
|
NM_000162.5(GCK):c.213C>T (p.Val71=)
|
rs143128547
|
0.00014
|
NM_000352.6(ABCC8):c.823-8C>T
|
rs201000679
|
0.00014
|
NM_000525.4(KCNJ11):c.*697G>A
|
rs117976105
|
0.00014
|
NM_005327.7(HADH):c.133-15C>T
|
rs190144364
|
0.00013
|
NM_000162.5(GCK):c.363+9C>T
|
rs200985182
|
0.00011
|
NM_000162.5(GCK):c.649G>A (p.Asp217Asn)
|
rs147065275
|
0.00011
|
NM_000162.5(GCK):c.666C>T (p.Val222=)
|
rs193922318
|
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_000525.4(KCNJ11):c.302C>A (p.Ala101Asp)
|
rs1014454531
|
0.00011
|
NM_000525.4(KCNJ11):c.941G>A (p.Arg314His)
|
rs145935651
|
0.00011
|
NM_003051.4(SLC16A1):c.*603T>C
|
rs527658261
|
0.00011
|
NM_005271.5(GLUD1):c.195C>T (p.Asn65=)
|
rs760817479
|
0.00011
|
NM_005327.7(HADH):c.*142G>A
|
rs560215584
|
0.00011
|
NM_005327.7(HADH):c.144A>C (p.Ala48=)
|
rs79881095
|
0.00011
|
NM_005327.7(HADH):c.827-10C>T
|
rs372610846
|
0.00011
|
NM_000352.6(ABCC8):c.2304C>T (p.Pro768=)
|
rs199541853
|
0.00010
|
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.723C>T (p.His241=)
|
rs147276708
|
0.00010
|
NM_000525.4(KCNJ11):c.-54C>T
|
rs1016780684
|
0.00010
|
NM_003051.4(SLC16A1):c.*1801A>G
|
rs750135904
|
0.00010
|
NM_005327.7(HADH):c.676T>C (p.Tyr226His)
|
rs146036912
|
0.00010
|
NM_000162.5(GCK):c.393C>T (p.Ser131=)
|
rs139139350
|
0.00009
|
NM_000162.5(GCK):c.9C>T (p.Asp3=)
|
rs142553382
|
0.00009
|
NM_000352.6(ABCC8):c.1189A>C (p.Asn397His)
|
rs199763382
|
0.00009
|
NM_000352.6(ABCC8):c.4425A>G (p.Thr1475=)
|
rs368134766
|
0.00009
|
NM_000525.4(KCNJ11):c.*218G>T
|
rs886048039
|
0.00009
|
NM_005271.5(GLUD1):c.102G>C (p.Arg34=)
|
rs896457764
|
0.00009
|
NM_005271.5(GLUD1):c.468G>A (p.Val156=)
|
rs780979729
|
0.00009
|
NM_005327.7(HADH):c.-34C>T
|
rs748286204
|
0.00009
|
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.4690A>G (p.Lys1564Glu)
|
rs770317560
|
0.00008
|
NM_000352.6(ABCC8):c.765C>T (p.Ile255=)
|
rs753335564
|
0.00008
|
NM_000352.6(ABCC8):c.973G>A (p.Asp325Asn)
|
rs781480098
|
0.00008
|
NM_000525.4(KCNJ11):c.934G>A (p.Gly312Ser)
|
rs72554079
|
0.00008
|
NM_005271.5(GLUD1):c.*998C>T
|
rs766730554
|
0.00008
|
NM_005327.7(HADH):c.*305T>A
|
rs3822294
|
0.00008
|
NM_005327.7(HADH):c.240G>A (p.Lys80=)
|
rs748623569
|
0.00008
|
NM_000352.6(ABCC8):c.1457G>A (p.Arg486Gln)
|
rs376080397
|
0.00007
|
NM_000162.5(GCK):c.363+10G>A
|
rs758495950
|
0.00006
|
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln)
|
rs146378237
|
0.00006
|
NM_000352.6(ABCC8):c.2389C>T (p.Arg797Trp)
|
rs142620721
|
0.00006
|
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys)
|
rs202189540
|
0.00006
|
NM_000352.6(ABCC8):c.2635G>A (p.Asp879Asn)
|
rs531684936
|
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.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_000525.4(KCNJ11):c.*1055T>A
|
rs886048032
|
0.00006
|
NM_000525.4(KCNJ11):c.451G>A (p.Val151Met)
|
rs529884745
|
0.00006
|
NM_003051.4(SLC16A1):c.*946G>A
|
rs867810008
|
0.00006
|
NM_005271.5(GLUD1):c.1279-6G>A
|
rs374548261
|
0.00006
|
NM_005271.5(GLUD1):c.1500A>G (p.Ala500=)
|
rs756259685
|
0.00006
|
NM_005271.5(GLUD1):c.1652A>G (p.Asn551Ser)
|
rs373705613
|
0.00006
|
NM_005327.7(HADH):c.*335C>A
|
rs780532720
|
0.00006
|
NM_005327.7(HADH):c.361G>A (p.Val121Met)
|
rs377615662
|
0.00006
|
NM_000162.5(GCK):c.270G>A (p.Lys90=)
|
rs571528578
|
0.00005
|
NM_000352.6(ABCC8):c.1537G>A (p.Ala513Thr)
|
rs761748692
|
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.692G>C (p.Trp231Ser)
|
rs1057517139
|
0.00005
|
NM_003051.4(SLC16A1):c.*657C>A
|
rs911644501
|
0.00005
|
NM_005271.5(GLUD1):c.585T>C (p.Asp195=)
|
rs756647962
|
0.00005
|
NM_005327.7(HADH):c.132+7G>T
|
rs534966818
|
0.00005
|
NM_005327.7(HADH):c.709+18G>A
|
rs369931989
|
0.00005
|
NM_000162.5(GCK):c.*678G>T
|
rs555058443
|
0.00004
|
NM_000162.5(GCK):c.646G>A (p.Glu216Lys)
|
rs778550411
|
0.00004
|
NM_000162.5(GCK):c.834C>T (p.Asp278=)
|
rs200071687
|
0.00004
|
NM_000162.5(GCK):c.836A>G (p.Glu279Gly)
|
rs143484733
|
0.00004
|
NM_000352.6(ABCC8):c.1281G>A (p.Gln427=)
|
rs112488640
|
0.00004
|
NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met)
|
rs763794263
|
0.00004
|
NM_000352.6(ABCC8):c.2041-21G>A
|
rs746714109
|
0.00004
|
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys)
|
rs140068774
|
0.00004
|
NM_000352.6(ABCC8):c.307C>T (p.His103Tyr)
|
rs751209734
|
0.00004
|
NM_000352.6(ABCC8):c.3463G>A (p.Val1155Ile)
|
rs759961510
|
0.00004
|
NM_000352.6(ABCC8):c.3613G>A (p.Glu1205Lys)
|
rs768448830
|
0.00004
|
NM_000352.6(ABCC8):c.3640C>T (p.Arg1214Trp)
|
rs139964066
|
0.00004
|
NM_000352.6(ABCC8):c.3938G>A (p.Arg1313His)
|
rs372153432
|
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.4198G>A (p.Gly1400Arg)
|
rs137852676
|
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.480C>T (p.His160=)
|
rs769858502
|
0.00004
|
NM_000352.6(ABCC8):c.4C>A (p.Pro2Thr)
|
rs756552692
|
0.00004
|
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp)
|
rs200670692
|
0.00004
|
NM_000525.4(KCNJ11):c.80G>A (p.Arg27His)
|
rs774714794
|
0.00004
|
NM_003051.3(SLC16A1):c.-218G>A
|
rs761334745
|
0.00004
|
NM_003051.4(SLC16A1):c.*77C>T
|
rs868304120
|
0.00004
|
NM_005271.5(GLUD1):c.48C>G (p.Pro16=)
|
rs1313982001
|
0.00004
|
NM_005327.7(HADH):c.*59G>A
|
rs529762487
|
0.00004
|
NM_005327.7(HADH):c.324C>T (p.Ser108=)
|
rs373153417
|
0.00004
|
NM_005327.7(HADH):c.384C>T (p.Asn128=)
|
rs369550874
|
0.00004
|
NM_005327.7(HADH):c.710-14C>T
|
rs185267497
|
0.00004
|
NM_005327.7(HADH):c.795C>T (p.Val265=)
|
rs143416676
|
0.00004
|
NM_005327.7(HADH):c.820G>A (p.Val274Met)
|
rs543440046
|
0.00004
|
NM_005327.7(HADH):c.907G>A (p.Gly303Ser)
|
rs201772964
|
0.00004
|
NM_005327.7(HADH):c.908G>T (p.Gly303Val)
|
rs575378007
|
0.00004
|
NM_000162.5(GCK):c.-279C>T
|
rs997877536
|
0.00003
|
NM_000162.5(GCK):c.142G>A (p.Glu48Lys)
|
rs759514960
|
0.00003
|
NM_000162.5(GCK):c.301G>A (p.Val101Met)
|
rs762922697
|
0.00003
|
NM_000352.6(ABCC8):c.1067A>G (p.Tyr356Cys)
|
rs59852838
|
0.00003
|
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln)
|
rs1420601296
|
0.00003
|
NM_000352.6(ABCC8):c.2206G>T (p.Ala736Ser)
|
rs191697443
|
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.3462C>T (p.Ala1154=)
|
rs540122589
|
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.603G>A (p.Pro201=)
|
rs765113879
|
0.00003
|
NM_000352.6(ABCC8):c.787T>G (p.Tyr263Asp)
|
rs778892038
|
0.00003
|
NM_000352.6(ABCC8):c.822+3C>T
|
rs370697909
|
0.00003
|
NM_000352.6(ABCC8):c.822+7G>A
|
rs765890511
|
0.00003
|
NM_000525.4(KCNJ11):c.*311C>T
|
rs886048038
|
0.00003
|
NM_000525.4(KCNJ11):c.*849C>G
|
rs1272490539
|
0.00003
|
NM_000525.4(KCNJ11):c.1034C>T (p.Thr345Met)
|
rs114215135
|
0.00003
|
NM_000525.4(KCNJ11):c.1093C>T (p.Arg365Cys)
|
rs758749160
|
0.00003
|
NM_000525.4(KCNJ11):c.1112G>A (p.Arg371His)
|
rs1233061680
|
0.00003
|
NM_000525.4(KCNJ11):c.47G>A (p.Arg16His)
|
rs770609243
|
0.00003
|
NM_000525.4(KCNJ11):c.575G>A (p.Arg192His)
|
rs750778014
|
0.00003
|
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)
|
rs267607196
|
0.00003
|
NM_000525.4(KCNJ11):c.853G>A (p.Val285Ile)
|
rs149667199
|
0.00003
|
NM_003051.3(SLC16A1):c.-324T>G
|
rs1019615427
|
0.00003
|
NM_003051.4(SLC16A1):c.*1312G>C
|
rs886045059
|
0.00003
|
NM_003051.4(SLC16A1):c.1117G>A (p.Val373Ile)
|
rs200802632
|
0.00003
|
NM_003051.4(SLC16A1):c.1342T>C (p.Leu448=)
|
rs773196238
|
0.00003
|
NM_005271.5(GLUD1):c.*1270C>T
|
rs886047370
|
0.00003
|
NM_005271.5(GLUD1):c.*1464C>T
|
rs886047368
|
0.00003
|
NM_005271.5(GLUD1):c.*1548C>T
|
rs886047366
|
0.00003
|
NM_005271.5(GLUD1):c.1100A>G (p.Tyr367Cys)
|
rs766896575
|
0.00003
|
NM_005271.5(GLUD1):c.1568G>A (p.Arg523His)
|
rs761933718
|
0.00003
|
NM_005327.7(HADH):c.325G>A (p.Val109Ile)
|
rs199810422
|
0.00003
|
NM_005327.7(HADH):c.47C>T (p.Ser16Phe)
|
rs374248298
|
0.00003
|
NM_005327.7(HADH):c.486A>G (p.Arg162=)
|
rs377521547
|
0.00003
|
NM_005327.7(HADH):c.706C>T (p.Arg236Ter)
|
rs375717077
|
0.00003
|
NM_005327.7(HADH):c.714C>T (p.Asp238=)
|
rs201739885
|
0.00003
|
NM_005327.7(HADH):c.889G>A (p.Val297Ile)
|
rs376876153
|
0.00003
|
NM_000162.5(GCK):c.-452G>A
|
rs187173652
|
0.00002
|
NM_000162.5(GCK):c.10G>A (p.Asp4Asn)
|
rs202091228
|
0.00002
|
NM_000162.5(GCK):c.394G>A (p.Asp132Asn)
|
rs762419802
|
0.00002
|
NM_000162.5(GCK):c.435C>G (p.Pro145=)
|
rs773281783
|
0.00002
|
NM_000162.5(GCK):c.483+3G>A
|
rs1311596702
|
0.00002
|
NM_000162.5(GCK):c.784G>A (p.Asp262Asn)
|
rs779460424
|
0.00002
|
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)
|
rs372307320
|
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.1970G>A (p.Arg657Gln)
|
rs755707550
|
0.00002
|
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)
|
rs764349043
|
0.00002
|
NM_000352.6(ABCC8):c.2217G>T (p.Trp739Cys)
|
rs1331539684
|
0.00002
|
NM_000352.6(ABCC8):c.2473C>A (p.Arg825=)
|
rs779736828
|
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.2666A>C (p.Lys889Thr)
|
rs761862121
|
0.00002
|
NM_000352.6(ABCC8):c.291-3C>T
|
rs764107333
|
0.00002
|
NM_000352.6(ABCC8):c.2938G>A (p.Glu980Lys)
|
rs1254230359
|
0.00002
|
NM_000352.6(ABCC8):c.3293G>A (p.Arg1098His)
|
rs1057523131
|
0.00002
|
NM_000352.6(ABCC8):c.3877T>G (p.Tyr1293Asp)
|
rs368710356
|
0.00002
|
NM_000352.6(ABCC8):c.3982C>A (p.Leu1328Ile)
|
rs774965446
|
0.00002
|
NM_000352.6(ABCC8):c.4308-2A>G
|
rs886041391
|
0.00002
|
NM_000352.6(ABCC8):c.4412-4T>G
|
rs1476016104
|
0.00002
|
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu)
|
rs750165947
|
0.00002
|
NM_000352.6(ABCC8):c.702C>T (p.Asn234=)
|
rs758289249
|
0.00002
|
NM_000525.4(KCNJ11):c.*40C>T
|
rs746850899
|
0.00002
|
NM_000525.4(KCNJ11):c.-179C>T
|
rs776949660
|
0.00002
|
NM_000525.4(KCNJ11):c.1040G>A (p.Arg347His)
|
rs771797701
|
0.00002
|
NM_000525.4(KCNJ11):c.292G>A (p.Gly98Ser)
|
rs1554901851
|
0.00002
|
NM_000525.4(KCNJ11):c.353C>T (p.Ser118Leu)
|
rs756424776
|
0.00002
|
NM_000525.4(KCNJ11):c.804C>T (p.Tyr268=)
|
rs778225010
|
0.00002
|
NM_000525.4(KCNJ11):c.91C>T (p.Arg31Trp)
|
rs757621300
|
0.00002
|
NM_000525.4(KCNJ11):c.970G>A (p.Gly324Arg)
|
rs1193170151
|
0.00002
|
NM_003051.4(SLC16A1):c.1281C>T (p.Gly427=)
|
rs779279429
|
0.00002
|
NM_005271.5(GLUD1):c.1494G>A (p.Ser498=)
|
rs759865842
|
0.00002
|
NM_005271.5(GLUD1):c.154C>A (p.His52Asn)
|
rs750420022
|
0.00002
|
NM_005271.5(GLUD1):c.330G>A (p.Lys110=)
|
rs199752396
|
0.00002
|
NM_005271.5(GLUD1):c.432G>T (p.Thr144=)
|
rs1423075857
|
0.00002
|
NM_005271.5(GLUD1):c.526+11G>A
|
rs757850230
|
0.00002
|
NM_005271.5(GLUD1):c.527-4T>G
|
rs779153065
|
0.00002
|
NM_005271.5(GLUD1):c.55C>T (p.Leu19=)
|
rs892387294
|
0.00002
|
NM_005327.7(HADH):c.261+17G>A
|
rs185657456
|
0.00002
|
NM_005327.7(HADH):c.34G>A (p.Val12Met)
|
rs139920805
|
0.00002
|
NM_005327.7(HADH):c.479C>T (p.Thr160Ile)
|
rs780252799
|
0.00002
|
NM_005327.7(HADH):c.757G>A (p.Gly253Ser)
|
rs749276908
|
0.00002
|
NM_005327.7(HADH):c.817A>G (p.Ile273Val)
|
rs1404810726
|
0.00002
|
NM_005327.7(HADH):c.827-9G>A
|
rs1363052334
|
0.00002
|
NM_005327.7(HADH):c.863A>C (p.Gln288Pro)
|
rs751120678
|
0.00002
|
NM_000162.5(GCK):c.*297T>G
|
rs527259972
|
0.00001
|
NM_000162.5(GCK):c.*723A>G
|
rs886062345
|
0.00001
|
NM_000162.5(GCK):c.-449G>A
|
rs1375544246
|
0.00001
|
NM_000162.5(GCK):c.107G>A (p.Arg36Gln)
|
rs193922261
|
0.00001
|
NM_000162.5(GCK):c.1253+12C>T
|
rs768491249
|
0.00001
|
NM_000162.5(GCK):c.1386G>T (p.Met462Ile)
|
rs193922285
|
0.00001
|
NM_000162.5(GCK):c.415A>T (p.Met139Leu)
|
rs368137186
|
0.00001
|
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)
|
rs1085307455
|
0.00001
|
NM_000162.5(GCK):c.580-11C>T
|
rs370016334
|
0.00001
|
NM_000162.5(GCK):c.676G>A (p.Val226Met)
|
rs148311934
|
0.00001
|
NM_000162.5(GCK):c.951C>G (p.His317Gln)
|
rs1379908545
|
0.00001
|
NM_000352.4(ABCC8):c.-190C>G
|
rs1395224084
|
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.1176+2T>C
|
rs750586210
|
0.00001
|
NM_000352.6(ABCC8):c.1177-1G>A
|
rs1167993548
|
0.00001
|
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter)
|
rs768951263
|
0.00001
|
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His)
|
rs760062120
|
0.00001
|
NM_000352.6(ABCC8):c.1337T>C (p.Ile446Thr)
|
rs765529676
|
0.00001
|
NM_000352.6(ABCC8):c.1412C>T (p.Ala471Val)
|
rs780283224
|
0.00001
|
NM_000352.6(ABCC8):c.148+13A>C
|
rs773823246
|
0.00001
|
NM_000352.6(ABCC8):c.148+3G>A
|
rs996321405
|
0.00001
|
NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro)
|
rs1554933168
|
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.1576C>T (p.Arg526Cys)
|
rs751279984
|
0.00001
|
NM_000352.6(ABCC8):c.1581G>A (p.Arg527=)
|
rs750360514
|
0.00001
|
NM_000352.6(ABCC8):c.1613T>C (p.Ile538Thr)
|
rs886048054
|
0.00001
|
NM_000352.6(ABCC8):c.1630+1G>T
|
rs773306994
|
0.00001
|
NM_000352.6(ABCC8):c.1666C>T (p.Leu556Phe)
|
rs1362268812
|
0.00001
|
NM_000352.6(ABCC8):c.1671+1G>C
|
rs1057516509
|
0.00001
|
NM_000352.6(ABCC8):c.1732_1746dup (p.Ala578_Leu582dup)
|
rs757650373
|
0.00001
|
NM_000352.6(ABCC8):c.1924-9C>T
|
rs1218098329
|
0.00001
|
NM_000352.6(ABCC8):c.1942C>T (p.Arg648Cys)
|
rs373175144
|
0.00001
|
NM_000352.6(ABCC8):c.1973G>T (p.Gly658Val)
|
rs149400972
|
0.00001
|
NM_000352.6(ABCC8):c.2116+2T>C
|
rs786204676
|
0.00001
|
NM_000352.6(ABCC8):c.2202del (p.Ala736fs)
|
rs1554924035
|
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.2226T>C (p.Leu742=)
|
rs757507467
|
0.00001
|
NM_000352.6(ABCC8):c.2256-3C>T
|
rs756328102
|
0.00001
|
NM_000352.6(ABCC8):c.2475+19G>A
|
rs373894772
|
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>A
|
rs749271190
|
0.00001
|
NM_000352.6(ABCC8):c.255G>A (p.Leu85=)
|
rs1323334420
|
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.2753G>A (p.Arg918Lys)
|
rs748585974
|
0.00001
|
NM_000352.6(ABCC8):c.2798G>A (p.Arg933Gln)
|
rs745591375
|
0.00001
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
NM_000352.6(ABCC8):c.2916G>A (p.Glu972=)
|
rs1954592292
|
0.00001
|
NM_000352.6(ABCC8):c.2937C>T (p.Ser979=)
|
rs780868010
|
0.00001
|
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)
|
rs769518471
|
0.00001
|
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu)
|
rs775087568
|
0.00001
|
NM_000352.6(ABCC8):c.3126_3127insAGGAACTG (p.Leu1043fs)
|
rs766033867
|
0.00001
|
NM_000352.6(ABCC8):c.3142A>C (p.Arg1048=)
|
rs1387302006
|
0.00001
|
NM_000352.6(ABCC8):c.3158G>A (p.Ser1053Asn)
|
rs767123465
|
0.00001
|
NM_000352.6(ABCC8):c.3224T>C (p.Ile1075Thr)
|
rs745895362
|
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.3493G>A (p.Val1165Met)
|
rs769818698
|
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.3641G>A (p.Arg1214Gln)
|
rs367850779
|
0.00001
|
NM_000352.6(ABCC8):c.3658G>A (p.Ala1220Thr)
|
rs1320499455
|
0.00001
|
NM_000352.6(ABCC8):c.3661C>T (p.Arg1221Trp)
|
rs567382793
|
0.00001
|
NM_000352.6(ABCC8):c.371A>T (p.Tyr124Phe)
|
rs1278920115
|
0.00001
|
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter)
|
rs1057516281
|
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.3951C>G (p.Leu1317=)
|
rs765708759
|
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.4060G>A (p.Asp1354Asn)
|
rs1199684247
|
0.00001
|
NM_000352.6(ABCC8):c.4077G>A (p.Pro1359=)
|
rs547430068
|
0.00001
|
NM_000352.6(ABCC8):c.4135C>A (p.Arg1379Ser)
|
rs137852673
|
0.00001
|
NM_000352.6(ABCC8):c.4141G>A (p.Gly1381Ser)
|
rs773448052
|
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.4236G>A (p.Leu1412=)
|
rs965734923
|
0.00001
|
NM_000352.6(ABCC8):c.4267A>G (p.Ile1423Val)
|
rs748831440
|
0.00001
|
NM_000352.6(ABCC8):c.4285G>A (p.Val1429Ile)
|
rs755577144
|
0.00001
|
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)
|
rs193922402
|
0.00001
|
NM_000352.6(ABCC8):c.4342A>G (p.Ser1448Gly)
|
rs374703754
|
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.4411G>A (p.Asp1471Asn)
|
rs72559716
|
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.4545+9T>C
|
rs775018351
|
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.502C>T (p.Arg168Cys)
|
rs756823374
|
0.00001
|
NM_000352.6(ABCC8):c.507C>T (p.Phe169=)
|
rs755745806
|
0.00001
|
NM_000352.6(ABCC8):c.541A>T (p.Met181Leu)
|
rs368894930
|
0.00001
|
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu)
|
rs933815442
|
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.693G>A (p.Trp231Ter)
|
rs1957198348
|
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.886G>A (p.Gly296Arg)
|
rs148529020
|
0.00001
|
NM_000352.6(ABCC8):c.894C>A (p.Arg298=)
|
rs375094504
|
0.00001
|
NM_000352.6(ABCC8):c.926C>G (p.Ala309Gly)
|
rs149347593
|
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.946G>A (p.Gly316Arg)
|
rs1201126343
|
0.00001
|
NM_000525.4(KCNJ11):c.*1220G>A
|
rs1457465996
|
0.00001
|
NM_000525.4(KCNJ11):c.*1562A>G
|
rs886048031
|
0.00001
|
NM_000525.4(KCNJ11):c.*701A>T
|
rs5207
|
0.00001
|
NM_000525.4(KCNJ11):c.-37C>T
|
rs753392628
|
0.00001
|
NM_000525.4(KCNJ11):c.-515G>A
|
rs886048044
|
0.00001
|
NM_000525.4(KCNJ11):c.100C>T (p.Arg34Cys)
|
rs954727530
|
0.00001
|
NM_000525.4(KCNJ11):c.1016T>G (p.Val339Gly)
|
rs138125678
|
0.00001
|
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His)
|
rs141145502
|
0.00001
|
NM_000525.4(KCNJ11):c.1044G>C (p.Gln348His)
|
rs745379486
|
0.00001
|
NM_000525.4(KCNJ11):c.1064T>C (p.Leu355Pro)
|
rs797045635
|
0.00001
|
NM_000525.4(KCNJ11):c.1094G>A (p.Arg365His)
|
rs750689750
|
0.00001
|
NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu)
|
rs114613745
|
0.00001
|
NM_000525.4(KCNJ11):c.1172G>A (p.Ter391=)
|
rs1450567888
|
0.00001
|
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys)
|
rs766891274
|
0.00001
|
NM_000525.4(KCNJ11):c.407G>A (p.Arg136His)
|
rs1479483693
|
0.00001
|
NM_000525.4(KCNJ11):c.411G>A (p.Met137Ile)
|
rs371977895
|
0.00001
|
NM_000525.4(KCNJ11):c.450C>T (p.Ile150=)
|
rs761588360
|
0.00001
|
NM_000525.4(KCNJ11):c.463G>A (p.Val155Met)
|
rs587783668
|
0.00001
|
NM_000525.4(KCNJ11):c.527G>A (p.Arg176His)
|
rs1266231295
|
0.00001
|
NM_000525.4(KCNJ11):c.560C>T (p.Ala187Val)
|
rs1371185696
|
0.00001
|
NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu)
|
rs104894237
|
0.00001
|
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)
|
rs104894248
|
0.00001
|
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys)
|
rs752507753
|
0.00001
|
NM_000525.4(KCNJ11):c.819C>T (p.Ser273=)
|
rs202238153
|
0.00001
|
NM_000525.4(KCNJ11):c.83C>T (p.Ala28Val)
|
rs754683593
|
0.00001
|
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)
|
rs780957825
|
0.00001
|
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His)
|
rs74339576
|
0.00001
|
NM_003051.4(SLC16A1):c.*1018T>G
|
rs774371594
|
0.00001
|
NM_003051.4(SLC16A1):c.*1134G>A
|
rs778106916
|
0.00001
|
NM_003051.4(SLC16A1):c.*137A>T
|
rs1223206132
|
0.00001
|
NM_003051.4(SLC16A1):c.*815G>A
|
rs556305447
|
0.00001
|
NM_003051.4(SLC16A1):c.-163T>C
|
rs886045088
|
0.00001
|
NM_003051.4(SLC16A1):c.-87C>T
|
rs886045087
|
0.00001
|
NM_003051.4(SLC16A1):c.1345G>A (p.Ala449Thr)
|
rs756006376
|
0.00001
|
NM_003051.4(SLC16A1):c.1452G>A (p.Pro484=)
|
rs17852382
|
0.00001
|
NM_003051.4(SLC16A1):c.295G>A (p.Gly99Ser)
|
rs1461742764
|
0.00001
|
NM_003051.4(SLC16A1):c.404T>C (p.Ile135Thr)
|
rs1570620206
|
0.00001
|
NM_003051.4(SLC16A1):c.540T>C (p.Ile180=)
|
rs775755027
|
0.00001
|
NM_003051.4(SLC16A1):c.680A>G (p.His227Arg)
|
rs549501840
|
0.00001
|
NM_005271.5(GLUD1):c.*1181C>A
|
rs542298445
|
0.00001
|
NM_005271.5(GLUD1):c.*1436G>A
|
rs886047369
|
0.00001
|
NM_005271.5(GLUD1):c.*469C>A
|
rs566474794
|
0.00001
|
NM_005271.5(GLUD1):c.*496G>A
|
rs886047372
|
0.00001
|
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu)
|
rs552066337
|
0.00001
|
NM_005271.5(GLUD1):c.1181C>T (p.Pro394Leu)
|
rs777564388
|
0.00001
|
NM_005271.5(GLUD1):c.136G>A (p.Ala46Thr)
|
rs780956934
|
0.00001
|
NM_005271.5(GLUD1):c.1515C>T (p.Ile505=)
|
rs774771496
|
0.00001
|
NM_005271.5(GLUD1):c.168G>A (p.Ala56=)
|
rs930453131
|
0.00001
|
NM_005271.5(GLUD1):c.200T>C (p.Phe67Ser)
|
rs1401755923
|
0.00001
|
NM_005271.5(GLUD1):c.527-12C>T
|
rs780201965
|
0.00001
|
NM_005271.5(GLUD1):c.594G>A (p.Leu198=)
|
rs781638449
|
0.00001
|
NM_005271.5(GLUD1):c.630A>G (p.Ala210=)
|
rs368203417
|
0.00001
|
NM_005271.5(GLUD1):c.635A>G (p.Lys212Arg)
|
rs761375132
|
0.00001
|
NM_005271.5(GLUD1):c.646+3A>G
|
rs1846331910
|
0.00001
|
NM_005327.4(HADH):c.-86G>T
|
rs528952923
|
0.00001
|
NM_005327.7(HADH):c.*279C>A
|
rs1290272212
|
0.00001
|
NM_005327.7(HADH):c.*383G>C
|
rs550706321
|
0.00001
|
NM_005327.7(HADH):c.-36C>T
|
rs746854470
|
0.00001
|
NM_005327.7(HADH):c.126T>G (p.Ile42Met)
|
rs1264862903
|
0.00001
|
NM_005327.7(HADH):c.159A>G (p.Val53=)
|
rs148846625
|
0.00001
|
NM_005327.7(HADH):c.171C>A (p.Asp57Glu)
|
rs137853102
|
0.00001
|
NM_005327.7(HADH):c.266G>A (p.Gly89Asp)
|
rs1292646768
|
0.00001
|
NM_005327.7(HADH):c.280G>C (p.Glu94Gln)
|
rs1274785101
|
0.00001
|
NM_005327.7(HADH):c.283A>G (p.Lys95Glu)
|
rs536173298
|
0.00001
|
NM_005327.7(HADH):c.406A>G (p.Lys136Glu)
|
rs1262186453
|
0.00001
|
NM_005327.7(HADH):c.449C>T (p.Ser150Phe)
|
rs1735809175
|
0.00001
|
NM_005327.7(HADH):c.494G>A (p.Arg165Gln)
|
rs768880930
|
0.00001
|
NM_005327.7(HADH):c.579A>G (p.Thr193=)
|
rs762771153
|
0.00001
|
NM_005327.7(HADH):c.696G>A (p.Arg232=)
|
rs747476251
|
0.00001
|
NM_005327.7(HADH):c.707G>A (p.Arg236Gln)
|
rs748945961
|
0.00001
|
NM_005327.7(HADH):c.72G>A (p.Lys24=)
|
rs781319494
|
0.00001
|
NM_005327.7(HADH):c.761A>G (p.Tyr254Cys)
|
rs771071992
|
0.00001
|
NM_005327.7(HADH):c.823G>A (p.Asp275Asn)
|
rs150766162
|
0.00001
|
GRCh37/hg19 11p15.1(chr11:17448546-17453841)x3
|
|
|
NC_000004.11:g.(?_108816710)_(108955513_?)dup
|
|
|
NC_000004.11:g.(?_108911069)_(108955533_?)dup
|
|
|
NC_000004.12:g.107986495_107992009del
|
|
|
NC_000010.10:g.(?_88811508)_(88822612_?)dup
|
|
|
NC_000010.10:g.(?_88854062)_(88854526_?)del
|
|
|
NM_000162.5(GCK):c.*270C>T
|
rs886062348
|
|
NM_000162.5(GCK):c.*548G>A
|
rs886062347
|
|
NM_000162.5(GCK):c.*721C>T
|
rs886062346
|
|
NM_000162.5(GCK):c.*844A>C
|
rs886062344
|
|
NM_000162.5(GCK):c.-102G>C
|
rs781377703
|
|
NM_000162.5(GCK):c.-137C>G
|
rs2096324530
|
|
NM_000162.5(GCK):c.-217C>G
|
rs73691419
|
|
NM_000162.5(GCK):c.-267G>T
|
rs59914952
|
|
NM_000162.5(GCK):c.-396C>G
|
rs2096324894
|
|
NM_000162.5(GCK):c.-456G>A
|
rs757266656
|
|
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)
|
rs1000236360
|
|
NM_000162.5(GCK):c.1120G>T (p.Val374Leu)
|
rs1415041911
|
|
NM_000162.5(GCK):c.1155del (p.Leu386fs)
|
rs1400535021
|
|
NM_000162.5(GCK):c.1165G>C (p.Val389Leu)
|
rs1350717554
|
|
NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs)
|
|
|
NM_000162.5(GCK):c.1262A>G (p.Glu421Gly)
|
rs1257648811
|
|
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile)
|
rs1185622190
|
|
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln)
|
rs1131691416
|
|
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)
|
rs193922283
|
|
NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup)
|
rs1554334433
|
|
NM_000162.5(GCK):c.1363G>A (p.Val455Met)
|
rs104894012
|
|
NM_000162.5(GCK):c.1367C>T (p.Ala456Val)
|
rs104894014
|
|
NM_000162.5(GCK):c.1A>T (p.Met1Leu)
|
|
|
NM_000162.5(GCK):c.232G>T (p.Asp78Tyr)
|
|
|
NM_000162.5(GCK):c.269A>C (p.Lys90Thr)
|
rs2128822695
|
|
NM_000162.5(GCK):c.271G>Y (p.Val91Leu)
|
|
|
NM_000162.5(GCK):c.278A>C (p.Glu93Ala)
|
|
|
NM_000162.5(GCK):c.363+10G>C
|
rs758495950
|
|
NM_000162.5(GCK):c.391T>C (p.Ser131Pro)
|
rs104894010
|
|
NM_000162.5(GCK):c.469G>A (p.Glu157Lys)
|
rs1554335570
|
|
NM_000162.5(GCK):c.544G>A (p.Val182Met)
|
rs587780345
|
|
NM_000162.5(GCK):c.579+12C>G
|
rs202001955
|
|
NM_000162.5(GCK):c.608T>C (p.Val203Ala)
|
rs1562717053
|
|
NM_000162.5(GCK):c.641A>G (p.Tyr214Cys)
|
rs104894015
|
|
NM_000162.5(GCK):c.660C>A (p.Cys220Ter)
|
rs142952813
|
|
NM_000162.5(GCK):c.667G>A (p.Gly223Ser)
|
rs1360415315
|
|
NM_000162.5(GCK):c.675C>T (p.Ile225=)
|
rs772754004
|
|
NM_000162.5(GCK):c.680-14G>C
|
rs577968084
|
|
NM_000162.5(GCK):c.683C>T (p.Thr228Met)
|
rs80356655
|
|
NM_000162.5(GCK):c.692A>T (p.Asn231Ile)
|
|
|
NM_000162.5(GCK):c.766G>A (p.Glu256Lys)
|
rs769268803
|
|
NM_000162.5(GCK):c.792C>A (p.Gly264=)
|
rs754094813
|
|
NM_000162.5(GCK):c.793G>A (p.Glu265Lys)
|
rs104894011
|
|
NM_000162.5(GCK):c.835G>C (p.Glu279Gln)
|
rs104894005
|
|
NM_000162.5(GCK):c.871A>T (p.Lys291Ter)
|
rs193922335
|
|
NM_000352.4:c.(?_1818)_(1923_?)del
|
|
|
NM_000352.6(ABCC8):c.*93T>A
|
rs886048046
|
|
NM_000352.6(ABCC8):c.1012-2A>G
|
rs1554938866
|
|
NM_000352.6(ABCC8):c.1012-7C>G
|
|
|
NM_000352.6(ABCC8):c.1024G>A (p.Gly342Arg)
|
rs763028380
|
|
NM_000352.6(ABCC8):c.1040C>G (p.Ser347Ter)
|
|
|
NM_000352.6(ABCC8):c.106C>T (p.His36Tyr)
|
|
|
NM_000352.6(ABCC8):c.1073T>A (p.Leu358Ter)
|
|
|
NM_000352.6(ABCC8):c.107A>G (p.His36Arg)
|
|
|
NM_000352.6(ABCC8):c.1096C>T (p.Leu366Phe)
|
rs1956875186
|
|
NM_000352.6(ABCC8):c.1112C>T (p.Thr371Ile)
|
|
|
NM_000352.6(ABCC8):c.1138del (p.Ala380fs)
|
|
|
NM_000352.6(ABCC8):c.115_123del (p.Leu39_Phe41del)
|
rs1554949238
|
|
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg)
|
rs1554949242
|
|
NM_000352.6(ABCC8):c.11C>T (p.Ala4Val)
|
rs2133738359
|
|
NM_000352.6(ABCC8):c.1209del (p.Thr404fs)
|
|
|
NM_000352.6(ABCC8):c.1215C>T (p.Ser405=)
|
rs1956635063
|
|
NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg)
|
rs1564955779
|
|
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=)
|
rs370169777
|
|
NM_000352.6(ABCC8):c.126_146dup (p.Thr43_Ile49dup)
|
rs1554949190
|
|
NM_000352.6(ABCC8):c.1282C>G (p.Leu428Val)
|
rs1956631543
|
|
NM_000352.6(ABCC8):c.1290G>A (p.Trp430Ter)
|
|
|
NM_000352.6(ABCC8):c.1330C>T (p.Gln444Ter)
|
rs2133616750
|
|
NM_000352.6(ABCC8):c.1332+3A>G
|
|
|
NM_000352.6(ABCC8):c.1333-1013A>G
|
rs980458021
|
|
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs)
|
rs1554933565
|
|
NM_000352.6(ABCC8):c.1391C>T (p.Ala464Val)
|
rs1554933525
|
|
NM_000352.6(ABCC8):c.145A>T (p.Ile49Phe)
|
rs1554949196
|
|
NM_000352.6(ABCC8):c.1467+1G>T
|
rs1554933415
|
|
NM_000352.6(ABCC8):c.1467+2T>C
|
rs1057517128
|
|
NM_000352.6(ABCC8):c.1468-2A>C
|
rs1057516946
|
|
NM_000352.6(ABCC8):c.1468-52G>A
|
|
|
NM_000352.6(ABCC8):c.148+1G>A
|
|
|
NM_000352.6(ABCC8):c.148+2T>G
|
rs1554949176
|
|
NM_000352.6(ABCC8):c.149-1G>A
|
rs1554948445
|
|
NM_000352.6(ABCC8):c.1536C>G (p.Tyr512Ter)
|
rs765090096
|
|
NM_000352.6(ABCC8):c.1571C>T (p.Thr524Met)
|
|
|
NM_000352.6(ABCC8):c.1571_1588del (p.Thr524_Glu529del)
|
|
|
NM_000352.6(ABCC8):c.1577G>T (p.Arg526Leu)
|
rs144481621
|
|
NM_000352.6(ABCC8):c.1585_1587del (p.Glu529del)
|
rs1554933031
|
|
NM_000352.6(ABCC8):c.1603_1604insA (p.Ala535fs)
|
rs1057516665
|
|
NM_000352.6(ABCC8):c.1605C>T (p.Ala535=)
|
rs886048055
|
|
NM_000352.6(ABCC8):c.1630+1G>A
|
|
|
NM_000352.6(ABCC8):c.1630+5G>T
|
rs1956364777
|
|
NM_000352.6(ABCC8):c.1634del (p.Phe545fs)
|
rs1260178539
|
|
NM_000352.6(ABCC8):c.1647del (p.Ile550fs)
|
rs2133554613
|
|
NM_000352.6(ABCC8):c.1672-20A>G
|
rs931436550
|
|
NM_000352.6(ABCC8):c.1672-473T>G
|
|
|
NM_000352.6(ABCC8):c.1752del (p.His584fs)
|
rs1554926539
|
|
NM_000352.6(ABCC8):c.1766C>T (p.Pro589Leu)
|
rs1955814875
|
|
NM_000352.6(ABCC8):c.1817+1G>T
|
rs1554926476
|
|
NM_000352.6(ABCC8):c.1817+2T>C
|
|
|
NM_000352.6(ABCC8):c.1817+2_1817+6del
|
rs1554926465
|
|
NM_000352.6(ABCC8):c.1858del (p.Arg620fs)
|
|
|
NM_000352.6(ABCC8):c.1879del (p.His627fs)
|
rs764613146
|
|
NM_000352.6(ABCC8):c.1893del (p.Gln632fs)
|
rs2133539303
|
|
NM_000352.6(ABCC8):c.1895_1913delinsTT (p.Gln632fs)
|
|
|
NM_000352.6(ABCC8):c.1913A>C (p.Tyr638Ser)
|
|
|
NM_000352.6(ABCC8):c.1945A>T (p.Lys649Ter)
|
|
|
NM_000352.6(ABCC8):c.1973del (p.Gly658fs)
|
|
|
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
|
|
|
NM_000352.6(ABCC8):c.1del (p.Met1fs)
|
rs2133738442
|
|
NM_000352.6(ABCC8):c.2041-12C>A
|
rs201419039
|
|
NM_000352.6(ABCC8):c.2041-12C>T
|
rs201419039
|
|
NM_000352.6(ABCC8):c.2041-1G>A
|
rs1554924630
|
|
NM_000352.6(ABCC8):c.2041-25G>A
|
rs1554924660
|
|
NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly)
|
rs1955658642
|
|
NM_000352.6(ABCC8):c.206del (p.Pro69fs)
|
|
|
NM_000352.6(ABCC8):c.2070del (p.Asp691fs)
|
|
|
NM_000352.6(ABCC8):c.208G>C (p.Gly70Arg)
|
rs764349043
|
|
NM_000352.6(ABCC8):c.2098_2099del (p.Thr700fs)
|
rs1057516542
|
|
NM_000352.6(ABCC8):c.2105G>A (p.Arg702His)
|
|
|
NM_000352.6(ABCC8):c.2113C>T (p.Arg705Ter)
|
rs751848086
|
|
NM_000352.6(ABCC8):c.2116+1G>A
|
rs1554924540
|
|
NM_000352.6(ABCC8):c.2116+1G>T
|
rs1554924540
|
|
NM_000352.6(ABCC8):c.2117-1G>A
|
rs797045207
|
|
NM_000352.6(ABCC8):c.2117-2A>T
|
rs1476853180
|
|
NM_000352.6(ABCC8):c.2124_2127del (p.Leu708_Thr709insTer)
|
rs786204717
|
|
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met)
|
rs1554924142
|
|
NM_000352.6(ABCC8):c.2147G>T (p.Gly716Val)
|
rs72559723
|
|
NM_000352.6(ABCC8):c.2151C>A (p.Cys717Ter)
|
|
|
NM_000352.6(ABCC8):c.2163G>T (p.Ser721=)
|
rs201724038
|
|
NM_000352.6(ABCC8):c.2164C>T (p.Leu722Phe)
|
|
|
NM_000352.6(ABCC8):c.2169_2171del (p.Leu724del)
|
rs760520781
|
|
NM_000352.6(ABCC8):c.2171T>C (p.Leu724Pro)
|
rs1402090677
|
|
NM_000352.6(ABCC8):c.2180T>G (p.Leu727Arg)
|
rs1554924079
|
|
NM_000352.6(ABCC8):c.2222+15C>A
|
rs377174421
|
|
NM_000352.6(ABCC8):c.2222+1G>A
|
rs1554923999
|
|
NM_000352.6(ABCC8):c.2222+1G>T
|
rs1554923999
|
|
NM_000352.6(ABCC8):c.2255+2T>C
|
rs1057516589
|
|
NM_000352.6(ABCC8):c.2256-16del
|
rs774508952
|
|
NM_000352.6(ABCC8):c.2256-9C>T
|
rs886048052
|
|
NM_000352.6(ABCC8):c.2292-1G>A
|
rs1564905676
|
|
NM_000352.6(ABCC8):c.2295_2307delinsAA (p.Arg766fs)
|
rs1554917411
|
|
NM_000352.6(ABCC8):c.2318C>A (p.Ser773Ter)
|
|
|
NM_000352.6(ABCC8):c.2319G>C (p.Ser773=)
|
rs766321878
|
|
NM_000352.6(ABCC8):c.2350GAG[1] (p.Glu785del)
|
|
|
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)
|
rs797045208
|
|
NM_000352.6(ABCC8):c.2454_2456del (p.Asp818_Gln819delinsGlu)
|
rs1554916621
|
|
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln)
|
rs547150342
|
|
NM_000352.6(ABCC8):c.2539G>A (p.Ala847Thr)
|
rs561593131
|
|
NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn)
|
rs1954765607
|
|
NM_000352.6(ABCC8):c.259_262del (p.Cys87fs)
|
rs2133728495
|
|
NM_000352.6(ABCC8):c.267del (p.Ile89fs)
|
rs2133728449
|
|
NM_000352.6(ABCC8):c.2683dup (p.His895fs)
|
rs1057517019
|
|
NM_000352.6(ABCC8):c.2684A>T (p.His895Leu)
|
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
NM_000352.6(ABCC8):c.2694+1G>C
|
rs774574576
|
|
NM_000352.6(ABCC8):c.2694+3G>A
|
rs1554914779
|
|
NM_000352.6(ABCC8):c.2694+4A>T
|
rs1554914771
|
|
NM_000352.6(ABCC8):c.2694G>A (p.Trp898Ter)
|
rs2133460799
|
|
NM_000352.6(ABCC8):c.2699T>C (p.Ile900Thr)
|
|
|
NM_000352.6(ABCC8):c.2800C>T (p.Gln934Ter)
|
|
|
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)
|
rs1554913069
|
|
NM_000352.6(ABCC8):c.2858A>C (p.Gln953Pro)
|
rs761960758
|
|
NM_000352.6(ABCC8):c.2869C>G (p.Arg957Gly)
|
rs761160857
|
|
NM_000352.6(ABCC8):c.290+2T>C
|
rs1554948310
|
|
NM_000352.6(ABCC8):c.291-2A>G
|
rs786204695
|
|
NM_000352.6(ABCC8):c.2921-1G>A
|
rs772682942
|
|
NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr)
|
rs568576108
|
|
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro)
|
rs201499958
|
|
NM_000352.6(ABCC8):c.2980G>T (p.Glu994Ter)
|
|
|
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro)
|
rs776248166
|
|
NM_000352.6(ABCC8):c.3000C>A (p.Cys1000Ter)
|
rs192863214
|
|
NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=)
|
rs1354438772
|
|
NM_000352.6(ABCC8):c.3088G>A (p.Asp1030Asn)
|
rs1225850029
|
|
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.3124_3126delinsCAGCCAGGAACTG (p.Thr1042fs)
|
rs786204542
|
|
NM_000352.6(ABCC8):c.3126_3129delinsTC (p.Leu1043fs)
|
|
|
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs)
|
rs886041392
|
|
NM_000352.6(ABCC8):c.3151_3162+15del
|
rs1554912381
|
|
NM_000352.6(ABCC8):c.3163-1G>A
|
|
|
NM_000352.6(ABCC8):c.3243_3251del (p.Ser1082_Thr1084del)
|
rs1271445653
|
|
NM_000352.6(ABCC8):c.3264_3265insTTTTATAGAT (p.Gly1089fs)
|
|
|
NM_000352.6(ABCC8):c.3269_3270del (p.Leu1090fs)
|
|
|
NM_000352.6(ABCC8):c.326del (p.Pro109fs)
|
|
|
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro)
|
rs1352191146
|
|
NM_000352.6(ABCC8):c.3330-13G>A
|
|
|
NM_000352.6(ABCC8):c.3351dup (p.Gly1118fs)
|
|
|
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val)
|
rs2133711315
|
|
NM_000352.6(ABCC8):c.3398A>G (p.Gln1133Arg)
|
|
|
NM_000352.6(ABCC8):c.3399+1G>A
|
rs1554911369
|
|
NM_000352.6(ABCC8):c.3400-1G>A
|
rs576684889
|
|
NM_000352.6(ABCC8):c.3414G>A (p.Thr1138=)
|
rs762412267
|
|
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=)
|
rs371089976
|
|
NM_000352.6(ABCC8):c.343A>G (p.Met115Val)
|
rs146695489
|
|
NM_000352.6(ABCC8):c.3440T>G (p.Leu1147Arg)
|
|
|
NM_000352.6(ABCC8):c.3447T>A (p.Cys1149Ter)
|
|
|
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs)
|
rs1263082097
|
|
NM_000352.6(ABCC8):c.3454del (p.Ala1152fs)
|
|
|
NM_000352.6(ABCC8):c.3470_3472del (p.Ser1157del)
|
rs1554910736
|
|
NM_000352.6(ABCC8):c.3508_3509insA (p.Leu1170fs)
|
|
|
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs)
|
rs587783169
|
|
NM_000352.6(ABCC8):c.3525C>G (p.Tyr1175Ter)
|
rs1057516439
|
|
NM_000352.6(ABCC8):c.3551C>A (p.Ala1184Glu)
|
|
|
NM_000352.6(ABCC8):c.3553_3557dup (p.Arg1186fs)
|
rs1554910621
|
|
NM_000352.6(ABCC8):c.3557+1G>A
|
rs1554910610
|
|
NM_000352.6(ABCC8):c.3557+1G>T
|
rs1554910610
|
|
NM_000352.6(ABCC8):c.3557+1del
|
rs1554910616
|
|
NM_000352.6(ABCC8):c.3558-6C>G
|
rs886048050
|
|
NM_000352.6(ABCC8):c.3574del (p.Asp1192fs)
|
rs1057516317
|
|
NM_000352.6(ABCC8):c.3575dup (p.Asp1192fs)
|
rs2133430623
|
|
NM_000352.6(ABCC8):c.3649A>G (p.Arg1217Gly)
|
rs770028071
|
|
NM_000352.6(ABCC8):c.3650+2T>A
|
rs1057517274
|
|
NM_000352.6(ABCC8):c.3650+4C>G
|
rs374315114
|
|
NM_000352.6(ABCC8):c.3673_3676del (p.Lys1225fs)
|
|
|
NM_000352.6(ABCC8):c.369_370dup (p.Tyr124fs)
|
rs1554946437
|
|
NM_000352.6(ABCC8):c.3705T>C (p.Ile1235=)
|
rs886048049
|
|
NM_000352.6(ABCC8):c.3733A>T (p.Arg1245Ter)
|
|
|
NM_000352.6(ABCC8):c.3736T>C (p.Trp1246Arg)
|
rs1554906790
|
|
NM_000352.6(ABCC8):c.3753+1G>A
|
rs1554906786
|
|
NM_000352.6(ABCC8):c.3753+1G>T
|
|
|
NM_000352.6(ABCC8):c.3754-1G>A
|
rs1554906449
|
|
NM_000352.6(ABCC8):c.3754-2A>G
|
rs1554906450
|
|
NM_000352.6(ABCC8):c.3759_3767dup (p.Ile1254_Ala1256dup)
|
rs1554906427
|
|
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.3788C>A (p.Ala1263Glu)
|
rs772094360
|
|
NM_000352.6(ABCC8):c.3828del (p.Ala1277fs)
|
|
|
NM_000352.6(ABCC8):c.3842del (p.Gly1281fs)
|
|
|
NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser)
|
rs763104338
|
|
NM_000352.6(ABCC8):c.3881_3882del (p.Leu1294fs)
|
|
|
NM_000352.6(ABCC8):c.3905C>T (p.Ala1302Val)
|
rs1340859533
|
|
NM_000352.6(ABCC8):c.3919C>T (p.Gln1307Ter)
|
|
|
NM_000352.6(ABCC8):c.3921del (p.Gln1307fs)
|
|
|
NM_000352.6(ABCC8):c.3928G>T (p.Ala1310Ser)
|
|
|
NM_000352.6(ABCC8):c.3958del (p.Thr1320fs)
|
|
|
NM_000352.6(ABCC8):c.3988+19G>C
|
rs576340695
|
|
NM_000352.6(ABCC8):c.3989-3C>G
|
rs1324242791
|
|
NM_000352.6(ABCC8):c.3995C>A (p.Ser1332Ter)
|
|
|
NM_000352.6(ABCC8):c.4012T>A (p.Trp1338Arg)
|
rs1554905805
|
|
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter)
|
rs1057516718
|
|
NM_000352.6(ABCC8):c.4026_4027insC (p.Lys1343fs)
|
rs1554905787
|
|
NM_000352.6(ABCC8):c.4028A>T (p.Lys1343Met)
|
rs886039301
|
|
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)
|
rs28936370
|
|
NM_000352.6(ABCC8):c.4072_4073delinsT (p.Lys1358fs)
|
rs1057516890
|
|
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
|
|
|
NM_000352.6(ABCC8):c.4090G>A (p.Val1364Ile)
|
rs138642224
|
|
NM_000352.6(ABCC8):c.4090G>T (p.Val1364Phe)
|
rs138642224
|
|
NM_000352.6(ABCC8):c.4096G>A (p.Ala1366Thr)
|
rs1554905695
|
|
NM_000352.6(ABCC8):c.4097C>A (p.Ala1366Asp)
|
rs746811190
|
|
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu)
|
rs1554905662
|
|
NM_000352.6(ABCC8):c.4114C>T (p.Gln1372Ter)
|
|
|
NM_000352.6(ABCC8):c.4115AGA[1] (p.Lys1373del)
|
rs1554905655
|
|
NM_000352.6(ABCC8):c.4119+1G>A
|
rs797045211
|
|
NM_000352.6(ABCC8):c.4119+1del
|
rs1057517050
|
|
NM_000352.6(ABCC8):c.4120-1G>T
|
rs1057517406
|
|
NM_000352.6(ABCC8):c.4123G>A (p.Gly1375Arg)
|
|
|
NM_000352.6(ABCC8):c.413-2A>G
|
rs1057517015
|
|
NM_000352.6(ABCC8):c.413-5G>A
|
rs186946111
|
|
NM_000352.6(ABCC8):c.413-5G>C
|
rs186946111
|
|
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg)
|
rs925231098
|
|
NM_000352.6(ABCC8):c.4146T>G (p.Ser1382Arg)
|
rs886039877
|
|
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.415del (p.Leu139fs)
|
rs1057516591
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
NM_000352.6(ABCC8):c.4168G>C (p.Ala1390Pro)
|
|
|
NM_000352.6(ABCC8):c.4171T>G (p.Phe1391Val)
|
rs1953897394
|
|
NM_000352.6(ABCC8):c.4199-8C>T
|
rs886048048
|
|
NM_000352.6(ABCC8):c.421G>A (p.Val141Met)
|
|
|
NM_000352.6(ABCC8):c.4220_4221insACAGG (p.Asp1408fs)
|
|
|
NM_000352.6(ABCC8):c.4253G>A (p.Arg1418His)
|
rs1446306735
|
|
NM_000352.6(ABCC8):c.4253G>T (p.Arg1418Leu)
|
rs1446306735
|
|
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)
|
rs28938469
|
|
NM_000352.6(ABCC8):c.4259G>A (p.Arg1420His)
|
|
|
NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs)
|
rs1554904904
|
|
NM_000352.6(ABCC8):c.4307+13A>C
|
rs886048047
|
|
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)
|
rs387906407
|
|
NM_000352.6(ABCC8):c.4322del (p.Pro1441fs)
|
rs758844607
|
|
NM_000352.6(ABCC8):c.4324G>A (p.Glu1442Lys)
|
|
|
NM_000352.6(ABCC8):c.4340_4362del (p.Asp1447fs)
|
rs1554904554
|
|
NM_000352.6(ABCC8):c.4349T>C (p.Leu1450Pro)
|
rs1554904565
|
|
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)
|
rs1057516404
|
|
NM_000352.6(ABCC8):c.4361T>G (p.Leu1454Arg)
|
rs2133398519
|
|
NM_000352.6(ABCC8):c.4366A>G (p.Ile1456Val)
|
rs1953847411
|
|
NM_000352.6(ABCC8):c.4383_4384dup (p.Val1462fs)
|
|
|
NM_000352.6(ABCC8):c.4412-13G>A
|
rs1008906426
|
|
NM_000352.6(ABCC8):c.4412-2A>G
|
rs1554904136
|
|
NM_000352.6(ABCC8):c.4434G>A (p.Gly1478=)
|
rs1953794808
|
|
NM_000352.6(ABCC8):c.4438A>G (p.Asn1480Asp)
|
rs1591705863
|
|
NM_000352.6(ABCC8):c.4446C>A (p.Ser1482Arg)
|
rs1554904107
|
|
NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg)
|
rs1554904102
|
|
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu)
|
rs193922405
|
|
NM_000352.6(ABCC8):c.4451G>T (p.Gly1484Val)
|
rs193922405
|
|
NM_000352.6(ABCC8):c.4453C>T (p.Gln1485Ter)
|
|
|
NM_000352.6(ABCC8):c.4456_4461del (p.Arg1486_Gln1487del)
|
rs1554904088
|
|
NM_000352.6(ABCC8):c.4474del (p.Ala1492fs)
|
rs1057516655
|
|
NM_000352.6(ABCC8):c.4486G>A (p.Val1496Met)
|
|
|
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)
|
rs137852671
|
|
NM_000352.6(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup)
|
rs797045212
|
|
NM_000352.6(ABCC8):c.4532T>C (p.Ile1511Thr)
|
|
|
NM_000352.6(ABCC8):c.4545+2T>G
|
rs1554904006
|
|
NM_000352.6(ABCC8):c.4563G>C (p.Lys1521Asn)
|
rs142272833
|
|
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter)
|
rs758231286
|
|
NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=)
|
rs780203284
|
|
NM_000352.6(ABCC8):c.4612C>T (p.Arg1538Ter)
|
rs1411638309
|
|
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met)
|
rs193922408
|
|
NM_000352.6(ABCC8):c.4649T>A (p.Val1550Asp)
|
|
|
NM_000352.6(ABCC8):c.4685del (p.Pro1562fs)
|
rs1554903370
|
|
NM_000352.6(ABCC8):c.480_481insAGATGTGTATAAGAGACAG (p.Ala161delinsArgCysValTer)
|
|
|
NM_000352.6(ABCC8):c.50T>C (p.Val17Ala)
|
rs764950519
|
|
NM_000352.6(ABCC8):c.512dup (p.Thr172fs)
|
rs1564980510
|
|
NM_000352.6(ABCC8):c.524T>A (p.Leu175Gln)
|
rs1554943599
|
|
NM_000352.6(ABCC8):c.526dup (p.Val176fs)
|
rs1847952281
|
|
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.55C>T (p.Gln19Ter)
|
|
|
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)
|
rs797045213
|
|
NM_000352.6(ABCC8):c.579+2T>A
|
rs1449198328
|
|
NM_000352.6(ABCC8):c.580-7C>A
|
rs771196330
|
|
NM_000352.6(ABCC8):c.584dup (p.Tyr195Ter)
|
rs1057517199
|
|
NM_000352.6(ABCC8):c.587T>A (p.Ile196Asn)
|
rs1957204723
|
|
NM_000352.6(ABCC8):c.589TTC[1] (p.Phe198del)
|
rs772409200
|
|
NM_000352.6(ABCC8):c.598del (p.Thr200fs)
|
rs1591890137
|
|
NM_000352.6(ABCC8):c.61G>A (p.Val21Ile)
|
|
|
NM_000352.6(ABCC8):c.61del (p.Val21fs)
|
rs2133737961
|
|
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)
|
rs863225280
|
|
NM_000352.6(ABCC8):c.689A>G (p.Tyr230Cys)
|
|
|
NM_000352.6(ABCC8):c.691T>C (p.Trp231Arg)
|
rs1554942704
|
|
NM_000352.6(ABCC8):c.692G>A (p.Trp231Ter)
|
rs1057517139
|
|
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)
|
rs1564977373
|
|
NM_000352.6(ABCC8):c.698_699del (p.Met233fs)
|
|
|
NM_000352.6(ABCC8):c.707_708del (p.Phe236fs)
|
|
|
NM_000352.6(ABCC8):c.72C>A (p.Asn24Lys)
|
rs771075821
|
|
NM_000352.6(ABCC8):c.734T>C (p.Ile245Thr)
|
rs1433841842
|
|
NM_000352.6(ABCC8):c.74G>T (p.Gly25Val)
|
rs763302648
|
|
NM_000352.6(ABCC8):c.752_753del (p.Gly251fs)
|
|
|
NM_000352.6(ABCC8):c.771_772insGAAACCCA (p.Arg258fs)
|
|
|
NM_000352.6(ABCC8):c.795G>T (p.Arg265=)
|
rs1386314454
|
|
NM_000352.6(ABCC8):c.795dup (p.Leu266fs)
|
rs1057516654
|
|
NM_000352.6(ABCC8):c.805del (p.Ala269fs)
|
rs1564976749
|
|
NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp)
|
rs372930264
|
|
NM_000352.6(ABCC8):c.823-1G>A
|
rs1247430874
|
|
NM_000352.6(ABCC8):c.823-7T>A
|
rs1554942148
|
|
NM_000352.6(ABCC8):c.878A>C (p.His293Pro)
|
rs587783175
|
|
NM_000352.6(ABCC8):c.916C>A (p.Arg306Ser)
|
rs751228166
|
|
NM_000352.6(ABCC8):c.917G>A (p.Arg306His)
|
rs1409900082
|
|
NM_000352.6(ABCC8):c.929A>T (p.Asp310Val)
|
|
|
NM_000352.6(ABCC8):c.966del (p.Ile323fs)
|
|
|
NM_000352.6(ABCC8):c.97G>T (p.Val33Leu)
|
rs768372267
|
|
NM_000352.6(ABCC8):c.992_993delinsTCTT (p.Asn331fs)
|
|
|
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys)
|
rs1440128889
|
|
NM_000525.4(KCNJ11):c.*1037G>T
|
rs767140617
|
|
NM_000525.4(KCNJ11):c.*1415G>A
|
rs955060881
|
|
NM_000525.4(KCNJ11):c.*50G>A
|
rs886048041
|
|
NM_000525.4(KCNJ11):c.*62G>A
|
rs5213
|
|
NM_000525.4(KCNJ11):c.*678C>T
|
rs886048036
|
|
NM_000525.4(KCNJ11):c.*732C>T
|
rs886048035
|
|
NM_000525.4(KCNJ11):c.*842C>G
|
rs1591693562
|
|
NM_000525.4(KCNJ11):c.*937C>T
|
rs886048033
|
|
NM_000525.4(KCNJ11):c.*99C>G
|
rs886048040
|
|
NM_000525.4(KCNJ11):c.-134G>T
|
rs387906398
|
|
NM_000525.4(KCNJ11):c.-135_-134insCT
|
rs1554901983
|
|
NM_000525.4(KCNJ11):c.-150G>A
|
rs886048043
|
|
NM_000525.4(KCNJ11):c.-424C>T
|
rs1953601577
|
|
NM_000525.4(KCNJ11):c.-559G>C
|
rs547932593
|
|
NM_000525.4(KCNJ11):c.1046T>C (p.Leu349Pro)
|
|
|
NM_000525.4(KCNJ11):c.1058A>G (p.His353Arg)
|
|
|
NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs)
|
rs1337406718
|
|
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys)
|
rs543286136
|
|
NM_000525.4(KCNJ11):c.112A>G (p.Lys38Glu)
|
|
|
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp)
|
rs1001873841
|
|
NM_000525.4(KCNJ11):c.154C>T (p.Gln52Ter)
|
rs879253757
|
|
NM_000525.4(KCNJ11):c.156G>A (p.Gln52=)
|
rs1953591194
|
|
NM_000525.4(KCNJ11):c.161G>A (p.Arg54His)
|
rs587783666
|
|
NM_000525.4(KCNJ11):c.264G>T (p.Met88Ile)
|
rs1554901866
|
|
NM_000525.4(KCNJ11):c.290dup (p.His97fs)
|
rs1554901854
|
|
NM_000525.4(KCNJ11):c.363_366del (p.Leu122fs)
|
rs1554901829
|
|
NM_000525.4(KCNJ11):c.365T>C (p.Leu122Pro)
|
rs1591695840
|
|
NM_000525.4(KCNJ11):c.36C>A (p.Tyr12Ter)
|
rs104894236
|
|
NM_000525.4(KCNJ11):c.440T>C (p.Leu147Pro)
|
rs28936678
|
|
NM_000525.4(KCNJ11):c.466G>A (p.Gly156Arg)
|
rs1404429785
|
|
NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter)
|
rs587783669
|
|
NM_000525.4(KCNJ11):c.525C>A (p.His175Gln)
|
rs865963367
|
|
NM_000525.4(KCNJ11):c.617G>A (p.Arg206His)
|
rs1554901747
|
|
NM_000525.4(KCNJ11):c.617G>T (p.Arg206Leu)
|
rs1554901747
|
|
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His)
|
rs768909861
|
|
NM_000525.4(KCNJ11):c.66_67inv (p.Lys23Glu)
|
|
|
NM_000525.4(KCNJ11):c.718dup (p.Met240fs)
|
rs1554901718
|
|
NM_000525.4(KCNJ11):c.741C>T (p.Asn247=)
|
rs886048042
|
|
NM_000525.4(KCNJ11):c.765_771dup (p.Tyr258fs)
|
rs1554901690
|
|
NM_000525.4(KCNJ11):c.797C>T (p.Pro266Leu)
|
rs1554901679
|
|
NM_000525.4(KCNJ11):c.841_843del (p.Leu281del)
|
rs1554901658
|
|
NM_000525.4(KCNJ11):c.866G>C (p.Gly289Ala)
|
rs797045637
|
|
NM_000525.4(KCNJ11):c.866G>T (p.Gly289Val)
|
rs797045637
|
|
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met)
|
rs750414160
|
|
NM_000525.4(KCNJ11):c.889ACC[1] (p.Thr298del)
|
rs1953574433
|
|
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile)
|
rs761575495
|
|
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser)
|
rs550315112
|
|
NM_000525.4(KCNJ11):c.99C>T (p.Ala33=)
|
rs1489389760
|
|
NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp)
|
rs137853245
|
|
NM_003051.3(SLC16A1):c.-214C>G
|
rs183726141
|
|
NM_003051.3(SLC16A1):c.-226G>A
|
rs886045089
|
|
NM_003051.3(SLC16A1):c.-249C>G
|
rs60953496
|
|
NM_003051.3(SLC16A1):c.-249C>T
|
rs60953496
|
|
NM_003051.3(SLC16A1):c.-313T>C
|
rs886045090
|
|
NM_003051.3(SLC16A1):c.-314A>G
|
rs886045091
|
|
NM_003051.3(SLC16A1):c.-316G>A
|
rs1313637478
|
|
NM_003051.3(SLC16A1):c.-391_-390insACGCCGGTCACGTGGCGGGGTGGGG
|
rs606231172
|
|
NM_003051.4(SLC16A1):c.*1044T>G
|
rs1190989254
|
|
NM_003051.4(SLC16A1):c.*1051G>A
|
rs886045064
|
|
NM_003051.4(SLC16A1):c.*1064G>T
|
rs886045063
|
|
NM_003051.4(SLC16A1):c.*1071T>C
|
rs1648368024
|
|
NM_003051.4(SLC16A1):c.*1072G>T
|
rs886045062
|
|
NM_003051.4(SLC16A1):c.*361G>T
|
rs1407575522
|
|
NM_003051.4(SLC16A1):c.*739T>C
|
rs570060559
|
|
NM_003051.4(SLC16A1):c.*739T>G
|
rs570060559
|
|
NM_003051.4(SLC16A1):c.-202G>A
|
rs387906403
|
|
NM_003051.4(SLC16A1):c.1228+6G>A
|
rs190615745
|
|
NM_003051.4(SLC16A1):c.1430T>C (p.Val477Ala)
|
rs886045067
|
|
NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter)
|
rs1570623881
|
|
NM_003051.4(SLC16A1):c.362-58TATT[8]
|
rs149491709
|
|
NM_003051.4(SLC16A1):c.489C>A (p.Pro163=)
|
rs145916504
|
|
NM_003051.4(SLC16A1):c.508G>A (p.Gly170Ser)
|
rs200143982
|
|
NM_003051.4(SLC16A1):c.527G>A (p.Gly176Glu)
|
rs766830652
|
|
NM_003051.4(SLC16A1):c.72T>A (p.Ile24=)
|
rs760137043
|
|
NM_003051.4(SLC16A1):c.785G>C (p.Gly262Ala)
|
|
|
NM_003051.4(SLC16A1):c.982C>T (p.Arg328Ter)
|
rs606231310
|
|
NM_003051.4(SLC16A1):c.983G>T (p.Arg328Leu)
|
rs774823539
|
|
NM_005271.5(GLUD1):c.*1139T>C
|
rs1845608491
|
|
NM_005271.5(GLUD1):c.*1211T>C
|
rs1845605578
|
|
NM_005271.5(GLUD1):c.*1252T>C
|
rs886047371
|
|
NM_005271.5(GLUD1):c.*1515A>G
|
rs1845594094
|
|
NM_005271.5(GLUD1):c.*1545C>T
|
rs886047367
|
|
NM_005271.5(GLUD1):c.*205A>G
|
rs886047373
|
|
NM_005271.5(GLUD1):c.*355T>G
|
rs569595849
|
|
NM_005271.5(GLUD1):c.*64T>C
|
rs760101776
|
|
NM_005271.5(GLUD1):c.*64T>G
|
rs760101776
|
|
NM_005271.5(GLUD1):c.*868A>C
|
rs1430742705
|
|
NM_005271.5(GLUD1):c.-44C>T
|
rs886047379
|
|
NM_005271.5(GLUD1):c.1006A>G (p.Ser336Gly)
|
|
|
NM_005271.5(GLUD1):c.1026T>C (p.Gly342=)
|
|
|
NM_005271.5(GLUD1):c.1046A>C (p.Glu349Ala)
|
rs121909735
|
|
NM_005271.5(GLUD1):c.1063C>T (p.His355Tyr)
|
|
|
NM_005271.5(GLUD1):c.1070C>T (p.Ser357Phe)
|
|
|
NM_005271.5(GLUD1):c.1078_1079insAGTCCATTCTGG (p.Leu359_Gly360insGluSerIleLeu)
|
rs1845910499
|
|
NM_005271.5(GLUD1):c.107A>G (p.Gln36Arg)
|
|
|
NM_005271.5(GLUD1):c.108G>A (p.Gln36=)
|
|
|
NM_005271.5(GLUD1):c.1111A>G (p.Ile371Val)
|
rs2133795523
|
|
NM_005271.5(GLUD1):c.1122C>T (p.Ala374=)
|
|
|
NM_005271.5(GLUD1):c.1132A>G (p.Ile378Val)
|
rs1589358775
|
|
NM_005271.5(GLUD1):c.1175A>G (p.Asn392Ser)
|
|
|
NM_005271.5(GLUD1):c.1197+20C>G
|
|
|
NM_005271.5(GLUD1):c.1197+5C>A
|
|
|
NM_005271.5(GLUD1):c.1198-11CT[2]
|
rs753448342
|
|
NM_005271.5(GLUD1):c.1198-9C>G
|
rs201421730
|
|
NM_005271.5(GLUD1):c.1198-9C>T
|
|
|
NM_005271.5(GLUD1):c.1209A>G (p.Glu403=)
|
|
|
NM_005271.5(GLUD1):c.122_148del (p.Pro41_Ala49del)
|
|
|
NM_005271.5(GLUD1):c.1249T>A (p.Phe417Ile)
|
rs2133794123
|
|
NM_005271.5(GLUD1):c.1279-19G>T
|
|
|
NM_005271.5(GLUD1):c.1279-3T>C
|
rs1845868081
|
|
NM_005271.5(GLUD1):c.133C>T (p.Leu45=)
|
rs2133875409
|
|
NM_005271.5(GLUD1):c.1344T>C (p.His448=)
|
rs1845866673
|
|
NM_005271.5(GLUD1):c.1358G>A (p.Arg453His)
|
|
|
NM_005271.5(GLUD1):c.1379G>C (p.Arg460Thr)
|
rs2133792215
|
|
NM_005271.5(GLUD1):c.1402A>C (p.Met468Leu)
|
rs2133792192
|
|
NM_005271.5(GLUD1):c.1403-11dup
|
rs550609501
|
|
NM_005271.5(GLUD1):c.1442A>T (p.His481Leu)
|
rs1169592069
|
|
NM_005271.5(GLUD1):c.1454T>C (p.Ile485Thr)
|
rs2133788934
|
|
NM_005271.5(GLUD1):c.1466C>G (p.Pro489Arg)
|
|
|
NM_005271.5(GLUD1):c.1466C>T (p.Pro489Leu)
|
rs2133788907
|
|
NM_005271.5(GLUD1):c.1479C>A (p.Phe493Leu)
|
rs2133788865
|
|
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu)
|
rs121909731
|
|
NM_005271.5(GLUD1):c.1495-14C>A
|
rs2133777461
|
|
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser)
|
rs121909733
|
|
NM_005271.5(GLUD1):c.1496G>A (p.Gly499Asp)
|
rs121909734
|
|
NM_005271.5(GLUD1):c.1496G>C (p.Gly499Ala)
|
rs121909734
|
|
NM_005271.5(GLUD1):c.1496G>T (p.Gly499Val)
|
rs121909734
|
|
NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr)
|
rs797045597
|
|
NM_005271.5(GLUD1):c.1501T>C (p.Ser501Pro)
|
rs121909732
|
|
NM_005271.5(GLUD1):c.1507A>G (p.Lys503Glu)
|
rs2133777379
|
|
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr)
|
rs121909730
|
|
NM_005271.5(GLUD1):c.1557+12G>A
|
rs201872390
|
|
NM_005271.5(GLUD1):c.1558-5T>A
|
|
|
NM_005271.5(GLUD1):c.1593A>T (p.Gly531=)
|
|
|
NM_005271.5(GLUD1):c.1617T>C (p.Tyr539=)
|
|
|
NM_005271.5(GLUD1):c.1637T>C (p.Val546Ala)
|
rs2133773089
|
|
NM_005271.5(GLUD1):c.1647G>A (p.Val549=)
|
rs756484571
|
|
NM_005271.5(GLUD1):c.1647G>C (p.Val549=)
|
|
|
NM_005271.5(GLUD1):c.174C>A (p.Ala58=)
|
|
|
NM_005271.5(GLUD1):c.178C>A (p.Arg60Ser)
|
|
|
NM_005271.5(GLUD1):c.203A>G (p.Lys68Arg)
|
|
|
NM_005271.5(GLUD1):c.212A>C (p.Glu71Ala)
|
|
|
NM_005271.5(GLUD1):c.226C>T (p.Arg76Cys)
|
rs1841666156
|
|
NM_005271.5(GLUD1):c.240C>G (p.Ile80Met)
|
rs2133874774
|
|
NM_005271.5(GLUD1):c.247G>A (p.Asp83Asn)
|
|
|
NM_005271.5(GLUD1):c.273C>T (p.Thr91=)
|
|
|
NM_005271.5(GLUD1):c.297G>C (p.Arg99=)
|
|
|
NM_005271.5(GLUD1):c.307C>G (p.Arg103Gly)
|
|
|
NM_005271.5(GLUD1):c.37C>T (p.Arg13Trp)
|
|
|
NM_005271.5(GLUD1):c.3G>A (p.Met1Ile)
|
rs1294286511
|
|
NM_005271.5(GLUD1):c.406C>A (p.Arg136=)
|
rs1405119017
|
|
NM_005271.5(GLUD1):c.415C>T (p.His139Tyr)
|
rs2133873984
|
|
NM_005271.5(GLUD1):c.446-5634T>C
|
rs1841280208
|
|
NM_005271.5(GLUD1):c.446-7CCA[4]
|
rs753723749
|
|
NM_005271.5(GLUD1):c.446-9C>T
|
rs1846404467
|
|
NM_005271.5(GLUD1):c.452G>C (p.Arg151Pro)
|
rs777627931
|
|
NM_005271.5(GLUD1):c.456C>T (p.Tyr152=)
|
rs1846403678
|
|
NM_005271.5(GLUD1):c.526+10C>T
|
|
|
NM_005271.5(GLUD1):c.534G>T (p.Pro178=)
|
rs764675203
|
|
NM_005271.5(GLUD1):c.53C>T (p.Ala18Val)
|
|
|
NM_005271.5(GLUD1):c.546T>C (p.Ala182=)
|
rs886047378
|
|
NM_005271.5(GLUD1):c.582+18A>G
|
|
|
NM_005271.5(GLUD1):c.582+7A>G
|
|
|
NM_005271.5(GLUD1):c.615C>G (p.Phe205Leu)
|
|
|
NM_005271.5(GLUD1):c.646+16_646+17del
|
rs201141455
|
|
NM_005271.5(GLUD1):c.647-14C>T
|
|
|
NM_005271.5(GLUD1):c.647-5C>G
|
rs201611802
|
|
NM_005271.5(GLUD1):c.655A>G (p.Ile219Val)
|
|
|
NM_005271.5(GLUD1):c.677T>G (p.Met226Arg)
|
rs886047377
|
|
NM_005271.5(GLUD1):c.719A>G (p.Tyr240Cys)
|
|
|
NM_005271.5(GLUD1):c.739T>C (p.Tyr247His)
|
rs2133811373
|
|
NM_005271.5(GLUD1):c.742-8del
|
|
|
NM_005271.5(GLUD1):c.756C>T (p.His252=)
|
|
|
NM_005271.5(GLUD1):c.757G>A (p.Ala253Thr)
|
|
|
NM_005271.5(GLUD1):c.771T>G (p.Gly257=)
|
rs144831842
|
|
NM_005271.5(GLUD1):c.78G>A (p.Ser26=)
|
|
|
NM_005271.5(GLUD1):c.803G>A (p.Arg268His)
|
|
|
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys)
|
rs56275071
|
|
NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr)
|
rs1845968579
|
|
NM_005271.5(GLUD1):c.859G>A (p.Ala287Thr)
|
|
|
NM_005271.5(GLUD1):c.919C>T (p.Gln307Ter)
|
rs886047375
|
|
NM_005271.5(GLUD1):c.943C>T (p.His315Tyr)
|
|
|
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys)
|
rs121909736
|
|
NM_005271.5(GLUD1):c.953G>C (p.Arg318Thr)
|
rs121909736
|
|
NM_005271.5(GLUD1):c.955T>A (p.Tyr319Asn)
|
|
|
NM_005271.5(GLUD1):c.962A>G (p.His321Arg)
|
|
|
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)
|
rs121909737
|
|
NM_005327.4(HADH):c.-195A>C
|
rs886058979
|
|
NM_005327.4(HADH):c.-195A>G
|
rs886058979
|
|
NM_005327.4(HADH):c.-56C>A
|
rs770197760
|
|
NM_005327.7(HADH):c.*660_*661del
|
|
|
NM_005327.7(HADH):c.*661dup
|
rs886058981
|
|
NM_005327.7(HADH):c.100G>A (p.Gly34Ser)
|
rs779135938
|
|
NM_005327.7(HADH):c.100G>C (p.Gly34Arg)
|
rs779135938
|
|
NM_005327.7(HADH):c.106G>C (p.Gly36Arg)
|
rs994692222
|
|
NM_005327.7(HADH):c.117C>G (p.Gly39=)
|
|
|
NM_005327.7(HADH):c.118G>A (p.Ala40Thr)
|
rs137853101
|
|
NM_005327.7(HADH):c.120C>T (p.Ala40=)
|
|
|
NM_005327.7(HADH):c.123C>T (p.Gly41=)
|
|
|
NM_005327.7(HADH):c.126T>C (p.Ile42=)
|
|
|
NM_005327.7(HADH):c.130C>T (p.Gln44Ter)
|
|
|
NM_005327.7(HADH):c.132+15C>A
|
|
|
NM_005327.7(HADH):c.132+16T>A
|
|
|
NM_005327.7(HADH):c.132+19A>G
|
|
|
NM_005327.7(HADH):c.132+6C>G
|
rs772843585
|
|
NM_005327.7(HADH):c.133-19T>C
|
|
|
NM_005327.7(HADH):c.133-20T>G
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NM_005327.7(HADH):c.134T>C (p.Val45Ala)
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NM_005327.7(HADH):c.141A>G (p.Ala47=)
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NM_005327.7(HADH):c.144A>T (p.Ala48=)
|
rs79881095
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NM_005327.7(HADH):c.156A>G (p.Thr52=)
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NM_005327.7(HADH):c.162G>A (p.Val54=)
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NM_005327.7(HADH):c.163T>C (p.Leu55=)
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NM_005327.7(HADH):c.166_169del (p.Val56fs)
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NM_005327.7(HADH):c.180G>A (p.Glu60=)
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NM_005327.7(HADH):c.18G>A (p.Arg6=)
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NM_005327.7(HADH):c.203dup (p.Ile70fs)
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NM_005327.7(HADH):c.21G>A (p.Gln7=)
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rs886058980
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NM_005327.7(HADH):c.220C>T (p.Leu74Phe)
|
rs1735422340
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NM_005327.7(HADH):c.235AAG[2] (p.Lys81del)
|
rs763318550
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NM_005327.7(HADH):c.237G>A (p.Lys79=)
|
rs150930917
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NM_005327.7(HADH):c.243G>T (p.Lys81Asn)
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NM_005327.7(HADH):c.246T>C (p.Phe82=)
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NM_005327.7(HADH):c.249A>G (p.Ala83=)
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NM_005327.7(HADH):c.261+10T>C
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NM_005327.7(HADH):c.261+12T>C
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NM_005327.7(HADH):c.261+15T>A
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NM_005327.7(HADH):c.261+16C>A
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NM_005327.7(HADH):c.261+16C>G
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NM_005327.7(HADH):c.261+16C>T
|
rs71601073
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NM_005327.7(HADH):c.261+18A>T
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NM_005327.7(HADH):c.261+19T>A
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NM_005327.7(HADH):c.261+1G>A
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rs1398546361
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NM_005327.7(HADH):c.261+20G>A
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NM_005327.7(HADH):c.261+2T>A
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NM_005327.7(HADH):c.261+7T>A
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NM_005327.7(HADH):c.261+8C>G
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NM_005327.7(HADH):c.261+8C>T
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NM_005327.7(HADH):c.262-19C>T
|
rs2126229206
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NM_005327.7(HADH):c.262-2A>G
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NM_005327.7(HADH):c.262-5A>C
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NM_005327.7(HADH):c.262-5A>G
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NM_005327.7(HADH):c.262-6C>T
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NM_005327.7(HADH):c.262-8T>C
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NM_005327.7(HADH):c.264C>T (p.Ala88=)
|
rs201324954
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NM_005327.7(HADH):c.267C>T (p.Gly89=)
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NM_005327.7(HADH):c.291G>T (p.Leu97=)
|
rs552317372
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NM_005327.7(HADH):c.304_307dup (p.Ser103fs)
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NM_005327.7(HADH):c.306C>G (p.Thr102=)
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NM_005327.7(HADH):c.311C>T (p.Thr104Met)
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NM_005327.7(HADH):c.312G>A (p.Thr104=)
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NM_005327.7(HADH):c.315T>C (p.Asp105=)
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NM_005327.7(HADH):c.316G>A (p.Ala106Thr)
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NM_005327.7(HADH):c.327T>C (p.Val109=)
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NM_005327.7(HADH):c.32C>T (p.Ser11Phe)
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NM_005327.7(HADH):c.336C>T (p.Ser112=)
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NM_005327.7(HADH):c.351G>A (p.Val117=)
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NM_005327.7(HADH):c.360C>T (p.Ile120=)
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NM_005327.7(HADH):c.366G>A (p.Glu122=)
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NM_005327.7(HADH):c.369del (p.Asn123_Leu124insTer)
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NM_005327.7(HADH):c.374_375insTTCA (p.Lys125fs)
|
rs766656997
|
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NM_005327.7(HADH):c.380A>G (p.Lys127Arg)
|
rs1735626197
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NM_005327.7(HADH):c.381A>G (p.Lys127=)
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NM_005327.7(HADH):c.388C>T (p.Leu130Phe)
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NM_005327.7(HADH):c.390C>T (p.Leu130=)
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NM_005327.7(HADH):c.39C>T (p.Ser13=)
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NM_005327.7(HADH):c.419+12C>G
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NM_005327.7(HADH):c.419+14G>A
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NM_005327.7(HADH):c.419+16A>T
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NM_005327.7(HADH):c.419+18A>G
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NM_005327.7(HADH):c.419+19A>G
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NM_005327.7(HADH):c.419+1G>A
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NM_005327.7(HADH):c.419+1G>C
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NM_005327.7(HADH):c.420-10C>T
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NM_005327.7(HADH):c.420-17A>G
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NM_005327.7(HADH):c.420-19C>T
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NM_005327.7(HADH):c.420-4A>G
|
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NM_005327.7(HADH):c.420A>T (p.Glu140Asp)
|
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NM_005327.7(HADH):c.422A>G (p.His141Arg)
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NM_005327.7(HADH):c.424dup (p.Thr142fs)
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NM_005327.7(HADH):c.426A>G (p.Thr142=)
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NM_005327.7(HADH):c.427A>G (p.Ile143Val)
|
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NM_005327.7(HADH):c.434C>A (p.Ala145Asp)
|
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NM_005327.7(HADH):c.443C>T (p.Thr148Ile)
|
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NM_005327.7(HADH):c.450C>T (p.Ser150=)
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NM_005327.7(HADH):c.489A>G (p.Gln163=)
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NM_005327.7(HADH):c.48C>T (p.Ser16=)
|
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NM_005327.7(HADH):c.493C>T (p.Arg165Ter)
|
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NM_005327.7(HADH):c.497T>A (p.Phe166Tyr)
|
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|
NM_005327.7(HADH):c.498C>T (p.Phe166=)
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|
NM_005327.7(HADH):c.50C>T (p.Thr17Ile)
|
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|
NM_005327.7(HADH):c.516del (p.Phe172fs)
|
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|
NM_005327.7(HADH):c.525G>A (p.Val175=)
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|
NM_005327.7(HADH):c.533T>A (p.Met178Lys)
|
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NM_005327.7(HADH):c.540T>C (p.Leu180=)
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NM_005327.7(HADH):c.546+13C>T
|
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|
NM_005327.7(HADH):c.546+15G>T
|
|
|
NM_005327.7(HADH):c.546+18dup
|
rs2126232168
|
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NM_005327.7(HADH):c.546+9G>A
|
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|
NM_005327.7(HADH):c.547-10G>T
|
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|
NM_005327.7(HADH):c.547-19C>A
|
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|
NM_005327.7(HADH):c.547-3_549del
|
rs2126234459
|
|
NM_005327.7(HADH):c.54C>A (p.Ala18=)
|
|
|
NM_005327.7(HADH):c.567C>T (p.Thr189=)
|
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|
NM_005327.7(HADH):c.587del (p.Ser196fs)
|
rs745727504
|
|
NM_005327.7(HADH):c.594A>G (p.Val198=)
|
|
|
NM_005327.7(HADH):c.600T>C (p.Phe200=)
|
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|
NM_005327.7(HADH):c.612A>G (p.Leu204=)
|
|
|
NM_005327.7(HADH):c.615A>G (p.Gly205=)
|
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|
NM_005327.7(HADH):c.636+16G>A
|
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|
NM_005327.7(HADH):c.636+16G>T
|
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|
NM_005327.7(HADH):c.636+18T>C
|
|
|
NM_005327.7(HADH):c.636+20G>A
|
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|
NM_005327.7(HADH):c.636+2T>C
|
|
|
NM_005327.7(HADH):c.636+2_636+3insCT
|
rs2126234552
|
|
NM_005327.7(HADH):c.636+471G>T
|
rs786200932
|
|
NM_005327.7(HADH):c.636+7G>C
|
|
|
NM_005327.7(HADH):c.637-10C>T
|
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|
NM_005327.7(HADH):c.637-18T>C
|
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|
NM_005327.7(HADH):c.637-20T>C
|
|
|
NM_005327.7(HADH):c.637-7A>C
|
|
|
NM_005327.7(HADH):c.639C>T (p.Asp213=)
|
|
|
NM_005327.7(HADH):c.642T>C (p.Thr214=)
|
|
|
NM_005327.7(HADH):c.643C>T (p.Pro215Ser)
|
rs140413151
|
|
NM_005327.7(HADH):c.64del (p.Ala22fs)
|
|
|
NM_005327.7(HADH):c.651T>C (p.Phe217=)
|
|
|
NM_005327.7(HADH):c.663C>T (p.Arg221=)
|
|
|
NM_005327.7(HADH):c.664_668del (p.Leu222fs)
|
|
|
NM_005327.7(HADH):c.688G>A (p.Ala230Thr)
|
rs780574282
|
|
NM_005327.7(HADH):c.705A>C (p.Glu235Asp)
|
|
|
NM_005327.7(HADH):c.709+17G>A
|
|
|
NM_005327.7(HADH):c.709+2T>C
|
|
|
NM_005327.7(HADH):c.709+8T>A
|
rs2126237037
|
|
NM_005327.7(HADH):c.710-11T>A
|
|
|
NM_005327.7(HADH):c.710-11T>G
|
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|
NM_005327.7(HADH):c.710-13G>A
|
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|
NM_005327.7(HADH):c.710-14_710-11dup
|
|
|
NM_005327.7(HADH):c.710-15C>T
|
|
|
NM_005327.7(HADH):c.710-18C>T
|
|
|
NM_005327.7(HADH):c.710-19G>A
|
|
|
NM_005327.7(HADH):c.710-822C>A
|
rs183387994
|
|
NM_005327.7(HADH):c.715G>T (p.Ala239Ser)
|
rs746680125
|
|
NM_005327.7(HADH):c.725A>G (p.Glu242Gly)
|
rs1736337186
|
|
NM_005327.7(HADH):c.740C>T (p.Ala247Val)
|
rs1736337431
|
|
NM_005327.7(HADH):c.756C>G (p.Ala252=)
|
|
|
NM_005327.7(HADH):c.756C>T (p.Ala252=)
|
|
|
NM_005327.7(HADH):c.765C>G (p.Pro255=)
|
|
|
NM_005327.7(HADH):c.771C>T (p.Gly257=)
|
|
|
NM_005327.7(HADH):c.773C>T (p.Pro258Leu)
|
rs137853103
|
|
NM_005327.7(HADH):c.774A>G (p.Pro258=)
|
|
|
NM_005327.7(HADH):c.805A>G (p.Thr269Ala)
|
rs1736341112
|
|
NM_005327.7(HADH):c.806C>G (p.Thr269Ser)
|
rs754403207
|
|
NM_005327.7(HADH):c.810G>A (p.Thr270=)
|
|
|
NM_005327.7(HADH):c.819C>T (p.Ile273=)
|
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|
NM_005327.7(HADH):c.825T>C (p.Asp275=)
|
|
|
NM_005327.7(HADH):c.825T>G (p.Asp275Glu)
|
rs1736344235
|
|
NM_005327.7(HADH):c.826+13del
|
|
|
NM_005327.7(HADH):c.826+8T>C
|
|
|
NM_005327.7(HADH):c.827-18C>T
|
|
|
NM_005327.7(HADH):c.827-20C>G
|
|
|
NM_005327.7(HADH):c.827-20C>T
|
|
|
NM_005327.7(HADH):c.827-4A>C
|
rs1381056065
|
|
NM_005327.7(HADH):c.828G>A (p.Gly276=)
|
|
|
NM_005327.7(HADH):c.832C>T (p.His278Tyr)
|
|
|
NM_005327.7(HADH):c.846A>G (p.Ala282=)
|
|
|
NM_005327.7(HADH):c.873A>G (p.Pro291=)
|
|
|
NM_005327.7(HADH):c.875C>T (p.Ser292Phe)
|
|
|
NM_005327.7(HADH):c.87C>T (p.His29=)
|
|
|
NM_005327.7(HADH):c.897G>A (p.Glu299=)
|
|
|
NM_005327.7(HADH):c.8T>C (p.Phe3Ser)
|
rs2126215379
|
|
NM_005327.7(HADH):c.906C>G (p.Phe302Leu)
|
|
|
NM_005327.7(HADH):c.906C>T (p.Phe302=)
|
|
|
NM_005327.7(HADH):c.909C>T (p.Gly303=)
|
|
|
NM_005327.7(HADH):c.921A>T (p.Gly307=)
|
|
|
NM_005327.7(HADH):c.93G>A (p.Thr31=)
|
|
|
NM_005327.7(HADH):c.99C>T (p.Ile33=)
|
rs74428123
|
|
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)
|
rs1555813319
|
|
NM_175914.5(HNF4A):c.47dup (p.Tyr16Ter)
|
rs2146127847
|
|
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup)
|
rs776489992
|
|