NM_012203.2(GRHPR):c.288-11C>T
|
rs2736664
|
0.92549
|
NM_012203.2(GRHPR):c.494-68A>G
|
rs309459
|
0.86126
|
NM_012203.2(GRHPR):c.579A>G (p.Ala193=)
|
rs309458
|
0.85807
|
NM_000030.3(AGXT):c.777-44A>G
|
rs12464426
|
0.79262
|
NM_001366110.1(PAX4):c.986A>C (p.His329Pro)
|
rs712701
|
0.74681
|
NM_000030.3(AGXT):c.*289A>C
|
rs4344931
|
0.74589
|
NM_000352.6(ABCC8):c.2820+17A>G
|
rs2106865
|
0.62022
|
NM_175914.5(HNF4A):c.1217-145T>C
|
rs3746574
|
0.46132
|
NM_000352.6(ABCC8):c.4120-27T>C
|
rs739689
|
0.45032
|
NM_000030.3(AGXT):c.846+52G>A
|
rs12695032
|
0.43208
|
NM_000352.6(ABCC8):c.4609-40A>G
|
rs1109591
|
0.36421
|
NM_000030.3(AGXT):c.777-45C>T
|
rs12478859
|
0.32606
|
NM_000030.3(AGXT):c.*41C>A
|
rs4273214
|
0.30802
|
NM_000030.3(AGXT):c.943-117C>T
|
rs10199038
|
0.30790
|
NM_138413.4(HOGA1):c.912C>A (p.Ala304=)
|
rs12261752
|
0.29673
|
NM_000030.3(AGXT):c.524+91C>T
|
rs10196315
|
0.29513
|
NM_002591.4(PCK1):c.*361G>A
|
rs878859807
|
0.28332
|
NM_138413.4(HOGA1):c.212-21A>G
|
rs11817730
|
0.19877
|
NM_138413.4(HOGA1):c.700+67G>A
|
rs2297643
|
0.16278
|
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)
|
rs4426527
|
0.15412
|
NM_000030.3(AGXT):c.264C>T (p.Ala88=)
|
rs35698882
|
0.15328
|
NM_000030.3(AGXT):c.680+17C>T
|
rs11693280
|
0.14843
|
NM_000030.3(AGXT):c.358+13C>T
|
rs34995778
|
0.14826
|
NM_138413.4(HOGA1):c.469-25C>T
|
rs7078003
|
0.14530
|
NM_012203.2(GRHPR):c.579= (p.Ala193=)
|
rs309458
|
0.14193
|
NM_000030.3(AGXT):c.654G>A (p.Ser218=)
|
rs33958047
|
0.12652
|
NM_138413.4(HOGA1):c.469-31C>T
|
rs75929214
|
0.09102
|
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_175914.5(HNF4A):c.1217-151A>C
|
rs74173201
|
0.07406
|
NM_000207.3(INS):c.-18+4_-18+5insTTGC
|
rs3842740
|
0.07357
|
NM_022895.3(C12orf43):c.*2358C>T
|
rs11065390
|
0.05950
|
NM_012203.2(GRHPR):c.734+9G>A
|
rs56401536
|
0.04769
|
NM_001366110.1(PAX4):c.474C>T (p.Gly158=)
|
rs77039439
|
0.04703
|
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val)
|
rs1800467
|
0.03859
|
NM_000891.3(KCNJ2):c.*2753T>C
|
rs1391769255
|
0.03695
|
NM_000891.3(KCNJ2):c.*2759T>C
|
rs906331617
|
0.03578
|
NM_000352.6(ABCC8):c.-49G>C
|
rs77498130
|
0.03452
|
NM_138413.4(HOGA1):c.*360C>T
|
rs114372258
|
0.03441
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_001164277.2(SLC37A4):c.539C>G (p.Ser180Cys)
|
rs374991345
|
0.03070
|
NM_138413.4(HOGA1):c.396G>A (p.Ala132=)
|
rs41290456
|
0.02716
|
NM_000046.4(ARSB):c.-265G>A
|
rs72764913
|
0.02482
|
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr)
|
rs13408961
|
0.02475
|
NM_000030.3(AGXT):c.65A>G (p.Asn22Ser)
|
rs34885252
|
0.02454
|
NM_000891.3(KCNJ2):c.*2754T>C
|
rs9915769
|
0.02225
|
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
NM_000352.6(ABCC8):c.-19A>G
|
rs193922394
|
0.01648
|
NM_006516.2(SLC2A1):c.-424C>G
|
rs867977523
|
0.01606
|
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=)
|
rs5216
|
0.01521
|
NM_138413.4(HOGA1):c.834+42G>T
|
rs115279832
|
0.01504
|
NM_000030.3(AGXT):c.705G>A (p.Thr235=)
|
rs35977912
|
0.01476
|
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=)
|
rs60824529
|
0.01375
|
NM_000030.3(AGXT):c.681-94G>A
|
rs141154272
|
0.01343
|
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_002299.4(LCT):c.*325G>C
|
rs62170085
|
0.01267
|
NM_000507.4(FBP1):c.*121T>G
|
rs2274689
|
0.01225
|
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=)
|
rs73419228
|
0.01181
|
NM_000525.4(KCNJ11):c.*376C>T
|
rs5208
|
0.01164
|
NM_000352.6(ABCC8):c.4119+18A>G
|
rs75967811
|
0.01067
|
NM_012203.2(GRHPR):c.963G>A (p.Pro321=)
|
rs76299266
|
0.01042
|
NM_000027.4(AGA):c.622+13T>C
|
rs75260482
|
0.01039
|
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg)
|
rs34885143
|
0.01036
|
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_000512.5(GALNS):c.*3C>G
|
rs77826920
|
0.01005
|
NM_000293.3(PHKB):c.*1001G>A
|
rs868394484
|
0.00997
|
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys)
|
rs41282930
|
0.00987
|
NM_000512.5(GALNS):c.121-210C>T
|
rs75552025
|
0.00974
|
NM_000208.4(INSR):c.909G>A (p.Gln303=)
|
rs9282757
|
0.00950
|
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)
|
rs61748766
|
0.00948
|
NM_000642.3(AGL):c.3619G>A (p.Ala1207Thr)
|
rs11807956
|
0.00940
|
NM_000642.3(AGL):c.*2058G>A
|
rs12117747
|
0.00930
|
NM_000027.4(AGA):c.1023A>G (p.Glu341=)
|
rs113407270
|
0.00929
|
NM_000404.4(GLB1):c.*319G>A
|
rs139730198
|
0.00851
|
NM_000525.4(KCNJ11):c.*76G>A
|
rs193076739
|
0.00819
|
NM_002299.4(LCT):c.4347T>C (p.Phe1449=)
|
rs17699796
|
0.00774
|
NM_000507.4(FBP1):c.-154C>G
|
rs28382860
|
0.00743
|
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)
|
rs115014558
|
0.00719
|
NM_000298.6(PKLR):c.1269+43T>C
|
rs8177982
|
0.00718
|
NM_175914.5(HNF4A):c.*3086C>T
|
rs551080524
|
0.00706
|
NM_000512.5(GALNS):c.*236C>T
|
rs189375208
|
0.00701
|
NM_005609.4(PYGM):c.1092+6dup
|
rs368602234
|
0.00700
|
NM_000027.4(AGA):c.*220G>C
|
rs12502301
|
0.00696
|
NM_000525.4(KCNJ11):c.*766G>A
|
rs193101892
|
0.00683
|
NM_001370658.1(BTD):c.585C>T (p.Leu195=)
|
rs145388314
|
0.00669
|
NM_000035.4(ALDOB):c.*268T>C
|
rs142431256
|
0.00648
|
NM_000108.5(DLD):c.*1145A>T
|
rs143750422
|
0.00638
|
NM_020897.3(HCN3):c.*1216A>C
|
rs41264939
|
0.00637
|
NM_000525.4(KCNJ11):c.*92C>T
|
rs5212
|
0.00626
|
NM_002103.5(GYS1):c.2013C>T (p.Asp671=)
|
rs5452
|
0.00624
|
NM_153281.2(HYAL1):c.-319T>C
|
rs1429084988
|
0.00618
|
NM_000046.4(ARSB):c.-246C>T
|
rs180784385
|
0.00598
|
NM_000151.4(G6PC1):c.*1454C>T
|
rs148453821
|
0.00598
|
NM_012434.5(SLC17A5):c.*560G>A
|
rs115453489
|
0.00594
|
NM_000525.4(KCNJ11):c.*288G>A
|
rs5209
|
0.00590
|
NM_000525.4(KCNJ11):c.*487A>G
|
rs79457490
|
0.00588
|
NM_003597.5(KLF11):c.-76G>A
|
rs1038766626
|
0.00583
|
NM_000046.5(ARSB):c.*2708G>A
|
rs141667208
|
0.00581
|
NM_002299.4(LCT):c.3006G>A (p.Arg1002=)
|
rs114815229
|
0.00558
|
NM_000046.5(ARSB):c.*1635G>A
|
rs35597782
|
0.00552
|
NM_001041.4(SI):c.123T>C (p.Ile41=)
|
rs146222650
|
0.00551
|
NM_000207.3(INS):c.63A>G (p.Pro21=)
|
rs11564720
|
0.00546
|
NM_000209.4(PDX1):c.-18C>T
|
rs193922351
|
0.00540
|
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser)
|
rs61742739
|
0.00531
|
NM_005609.4(PYGM):c.645G>A (p.Lys215=)
|
rs116315896
|
0.00530
|
NM_000458.3(HNF1B):c.-178G>A
|
rs148442901
|
0.00528
|
NM_000642.3(AGL):c.*2060T>C
|
rs191429370
|
0.00522
|
NM_001041.4(SI):c.1398+12T>C
|
rs115295826
|
0.00514
|
NM_000525.4(KCNJ11):c.*529G>A
|
rs115826080
|
0.00510
|
NM_000525.4(KCNJ11):c.108G>A (p.Val36=)
|
rs112070496
|
0.00509
|
NM_016203.4(PRKAG2):c.-322T>C
|
rs142348760
|
0.00504
|
NM_016203.4(PRKAG2):c.-40C>T
|
rs148715621
|
0.00503
|
NM_000352.6(ABCC8):c.4542C>A (p.Ala1514=)
|
rs113282901
|
0.00497
|
NM_000046.5(ARSB):c.*2408A>G
|
rs13354324
|
0.00491
|
NM_000030.3(AGXT):c.166-14C>T
|
rs180177176
|
0.00486
|
NM_001041.4(SI):c.2923T>C (p.Tyr975His)
|
rs146785675
|
0.00477
|
NM_017721.5(CC2D1A):c.1739C>T (p.Thr580Ile)
|
rs202057391
|
0.00476
|
NM_003619.4(PRSS12):c.*1615C>T
|
rs150249635
|
0.00471
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
NM_001041.4(SI):c.1716-13G>A
|
rs112259253
|
0.00456
|
NM_000027.4(AGA):c.60A>G (p.Leu20=)
|
rs114918706
|
0.00453
|
NM_000151.4(G6PC1):c.*2184T>A
|
rs146025743
|
0.00450
|
NM_021957.4(GYS2):c.*259T>A
|
rs140445396
|
0.00450
|
NM_001064.4(TKT):c.541A>G (p.Ile181Val)
|
rs17052920
|
0.00449
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
|
rs35026927
|
0.00435
|
NM_000352.6(ABCC8):c.354C>T (p.Val118=)
|
rs137873871
|
0.00434
|
NM_012203.2(GRHPR):c.493+27C>T
|
rs146896070
|
0.00432
|
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile)
|
rs8177988
|
0.00414
|
NM_000030.3(AGXT):c.*19G>A
|
rs143458283
|
0.00409
|
NM_018255.4(ELP2):c.2396C>T (p.Ala799Val)
|
rs35629953
|
0.00409
|
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu)
|
rs112454391
|
0.00404
|
NM_021957.4(GYS2):c.*458A>T
|
rs76993768
|
0.00403
|
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr)
|
rs36027220
|
0.00400
|
NM_000507.4(FBP1):c.237C>T (p.Asn79=)
|
rs201591116
|
0.00398
|
NM_000030.3(AGXT):c.976G>A (p.Val326Ile)
|
rs115057148
|
0.00394
|
NM_000340.2(SLC2A2):c.*796T>C
|
rs140738490
|
0.00392
|
NM_000525.4(KCNJ11):c.*1168G>A
|
rs182349583
|
0.00391
|
NM_001041.4(SI):c.1212G>A (p.Ala404=)
|
rs142838612
|
0.00391
|
NM_152419.3(HGSNAT):c.*2068A>G
|
rs141499920
|
0.00389
|
NM_001370658.1(BTD):c.*211G>A
|
rs78601074
|
0.00384
|
NM_000352.6(ABCC8):c.2958G>A (p.Ser986=)
|
rs58820146
|
0.00381
|
NM_002299.4(LCT):c.*10A>C
|
rs200994158
|
0.00375
|
NM_004830.4(MED23):c.4080G>T (p.Val1360=)
|
rs138742804
|
0.00372
|
NM_000027.4(AGA):c.*850C>T
|
rs149021855
|
0.00370
|
NM_000027.4(AGA):c.*718G>A
|
rs72988642
|
0.00364
|
NM_152419.3(HGSNAT):c.*2341G>A
|
rs143662681
|
0.00364
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_005327.7(HADH):c.662G>A (p.Arg221His)
|
rs76476980
|
0.00358
|
NM_005327.4(HADH):c.-102G>A
|
rs182097151
|
0.00354
|
NM_144563.3(RPIA):c.*558G>A
|
rs140371867
|
0.00353
|
NM_000525.4(KCNJ11):c.-498T>C
|
rs529946415
|
0.00352
|
NM_000046.4(ARSB):c.-239T>A
|
rs115264286
|
0.00346
|
NM_000289.6(PFKM):c.*411G>A
|
rs79507126
|
0.00345
|
NM_175914.5(HNF4A):c.*1127T>C
|
rs757386171
|
0.00337
|
NM_000046.5(ARSB):c.*2013G>A
|
rs113059935
|
0.00334
|
NM_000046.5(ARSB):c.*1146G>A
|
rs141001994
|
0.00333
|
NM_000294.3(PHKG2):c.256G>A (p.Gly86Ser)
|
rs143983247
|
0.00332
|
NM_000155.4(GALT):c.*105A>G
|
rs183251779
|
0.00329
|
NM_001159287.1(TPI1):c.50T>G (p.Ile17Arg)
|
rs1800202
|
0.00329
|
NM_000525.4(KCNJ11):c.*686A>G
|
rs147282653
|
0.00324
|
NM_138413.4(HOGA1):c.*101C>T
|
rs41290458
|
0.00319
|
NM_000203.5(IDUA):c.1345C>A (p.His449Asn)
|
rs532731688
|
0.00315
|
NM_002299.4(LCT):c.2763G>A (p.Ala921=)
|
rs116951780
|
0.00313
|
NM_000343.4(SLC5A1):c.*703C>T
|
rs576036983
|
0.00305
|
NM_000512.5(GALNS):c.759-67G>A
|
rs565875595
|
0.00305
|
NM_000162.5(GCK):c.46-12C>T
|
rs142829768
|
0.00296
|
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser)
|
rs45576136
|
0.00296
|
NM_000152.5(GAA):c.917C>T (p.Ser306Leu)
|
rs138097673
|
0.00292
|
NM_000525.4(KCNJ11):c.*848A>G
|
rs5206
|
0.00291
|
NM_000155.4(GALT):c.510C>A (p.Ile170=)
|
rs61735984
|
0.00290
|
NM_000046.5(ARSB):c.*2707C>T
|
rs183918206
|
0.00285
|
NM_000035.4(ALDOB):c.*1119C>T
|
rs41296051
|
0.00284
|
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=)
|
rs75376282
|
0.00284
|
NM_021957.4(GYS2):c.-240A>G
|
rs548363075
|
0.00281
|
NM_000512.5(GALNS):c.-54G>A
|
rs369448232
|
0.00280
|
NM_000046.5(ARSB):c.*1153C>A
|
rs116753785
|
0.00278
|
NM_004563.4(PCK2):c.1756G>A (p.Gly586Ser)
|
rs61737098
|
0.00277
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
NM_022042.4(SLC26A1):c.*877C>T
|
rs200911718
|
0.00276
|
NM_000203.5(IDUA):c.246C>G (p.His82Gln)
|
rs148775298
|
0.00274
|
NM_001365304.2(LOC112694756):c.*1740C>T
|
rs191226606
|
0.00274
|
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser)
|
rs145151396
|
0.00273
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
NM_000352.6(ABCC8):c.-8G>T
|
rs200091822
|
0.00270
|
NM_001352514.2(HLCS):c.*3159_*3162del
|
rs535525635
|
0.00270
|
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys)
|
rs147689373
|
0.00269
|
NM_000199.5(SGSH):c.*93A>G
|
rs111628992
|
0.00267
|
NM_000108.5(DLD):c.*1422C>T
|
rs568479120
|
0.00265
|
NM_000343.4(SLC5A1):c.625G>T (p.Val209Leu)
|
rs150117594
|
0.00264
|
NM_000263.3(NAGLU):c.-144G>A
|
rs538885425
|
0.00263
|
NM_000642.3(AGL):c.*832G>A
|
rs181486858
|
0.00261
|
NM_016219.5(MAN1B1):c.1433A>G (p.Lys478Arg)
|
rs138658585
|
0.00259
|
NM_014806.5(RUSC2):c.1418C>T (p.Pro473Leu)
|
rs61740253
|
0.00257
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_017721.5(CC2D1A):c.1234A>G (p.Ile412Val)
|
rs191830054
|
0.00256
|
NM_000027.4(AGA):c.*8T>C
|
rs112307209
|
0.00255
|
NM_000199.5(SGSH):c.*232T>C
|
rs113462619
|
0.00254
|
NM_000294.3(PHKG2):c.324C>T (p.Asp108=)
|
rs138416154
|
0.00252
|
NM_033159.4(HYAL1):c.*173T>C
|
rs184872974
|
0.00250
|
NM_000046.5(ARSB):c.*2608G>A
|
rs569254528
|
0.00248
|
NM_002294.3(LAMP2):c.*586A>G
|
rs41312757
|
0.00248
|
NM_001041.4(SI):c.2678C>T (p.Ala893Val)
|
rs145893756
|
0.00247
|
NM_152419.3(HGSNAT):c.234+14C>G
|
rs146429523
|
0.00245
|
NM_000152.5(GAA):c.*521A>G
|
rs142506588
|
0.00241
|
NM_000294.3(PHKG2):c.1137T>C (p.Pro379=)
|
rs61731628
|
0.00240
|
NM_003041.4(SLC5A2):c.1297A>G (p.Ile433Val)
|
rs150546732
|
0.00240
|
NM_000030.3(AGXT):c.424-16G>A
|
rs74895925
|
0.00239
|
NM_000158.4(GBE1):c.1134T>G (p.Ser378Arg)
|
rs36099971
|
0.00237
|
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=)
|
rs112751577
|
0.00237
|
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)
|
rs117843968
|
0.00237
|
NM_022895.3(C12orf43):c.*2956C>T
|
rs112986697
|
0.00237
|
NM_001352514.2(HLCS):c.1074G>A (p.Thr358=)
|
rs116985497
|
0.00235
|
NM_000030.3(AGXT):c.680+75G>A
|
rs117619103
|
0.00233
|
NM_002076.4(GNS):c.*2735C>T
|
rs143396704
|
0.00233
|
NM_175914.5(HNF4A):c.*1078G>A
|
rs573432571
|
0.00233
|
NM_000030.3(AGXT):c.423+45T>G
|
rs117357855
|
0.00232
|
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val)
|
rs139570786
|
0.00232
|
NM_000030.3(AGXT):c.423+29C>T
|
rs117043148
|
0.00230
|
NM_000046.5(ARSB):c.317G>A (p.Arg106His)
|
rs150087888
|
0.00230
|
NM_000199.5(SGSH):c.411G>A (p.Ala137=)
|
rs142557761
|
0.00230
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_020066.5(FMN2):c.4619C>T (p.Ser1540Leu)
|
rs150801382
|
0.00221
|
NM_001164277.2(SLC37A4):c.-573C>G
|
rs550169691
|
0.00220
|
NM_002591.4(PCK1):c.1448G>A (p.Arg483Gln)
|
rs41302559
|
0.00218
|
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)
|
rs201036248
|
0.00214
|
NM_003051.4(SLC16A1):c.-92G>T
|
rs144301005
|
0.00214
|
NM_000352.6(ABCC8):c.4545+13C>T
|
rs78338172
|
0.00212
|
NM_000642.3(AGL):c.2390A>G (p.Asn797Ser)
|
rs149210307
|
0.00212
|
NM_000108.5(DLD):c.*1640A>G
|
rs148148357
|
0.00209
|
NM_000642.3(AGL):c.2522C>T (p.Ser841Phe)
|
rs150441555
|
0.00209
|
NM_001352514.2(HLCS):c.*590A>G
|
rs148195019
|
0.00207
|
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser)
|
rs139738333
|
0.00205
|
NM_005908.4(MANBA):c.2191G>A (p.Val731Met)
|
rs150554352
|
0.00205
|
NM_001365304.2(LOC112694756):c.*621+4C>T
|
rs200278984
|
0.00204
|
NM_002300.8(LDHB):c.523A>G (p.Met175Val)
|
rs7966339
|
0.00203
|
NM_000175.5(GPI):c.907A>C (p.Met303Leu)
|
rs143733383
|
0.00202
|
NM_000263.3(NAGLU):c.-81C>T
|
rs189515084
|
0.00202
|
NM_175914.5(HNF4A):c.*1293C>T
|
rs182919150
|
0.00201
|
NM_198586.3(NHLRC1):c.*332G>T
|
rs140122442
|
0.00201
|
NM_001159287.1(TPI1):c.31C>T (p.His11Tyr)
|
rs781949460
|
0.00200
|
NM_001041.4(SI):c.2395A>G (p.Ile799Val)
|
rs150246328
|
0.00198
|
NM_005327.7(HADH):c.643C>A (p.Pro215Thr)
|
rs140413151
|
0.00198
|
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln)
|
rs146321088
|
0.00197
|
NM_005327.7(HADH):c.456G>T (p.Gln152His)
|
rs1051519
|
0.00195
|
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe)
|
rs147437033
|
0.00195
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000642.2(AGL):c.-208C>T
|
rs563389574
|
0.00192
|
NM_175914.5(HNF4A):c.*76G>A
|
rs11574743
|
0.00191
|
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=)
|
rs151013014
|
0.00190
|
NM_003051.4(SLC16A1):c.*629C>T
|
rs540946001
|
0.00189
|
NM_005609.4(PYGM):c.330C>T (p.Asp110=)
|
rs114742918
|
0.00189
|
NM_000027.4(AGA):c.436T>G (p.Leu146Val)
|
rs146381591
|
0.00188
|
NM_000027.4(AGA):c.623-7C>T
|
rs201125635
|
0.00188
|
NM_000525.4(KCNJ11):c.*1197G>A
|
rs191682072
|
0.00187
|
NM_000525.4(KCNJ11):c.1095C>T (p.Arg365=)
|
rs143276279
|
0.00187
|
NM_000046.5(ARSB):c.*994C>A
|
rs190632756
|
0.00186
|
NM_000352.4(ABCC8):c.-215_-214del
|
rs902564696
|
0.00185
|
NM_006488.3(KHK):c.*214G>A
|
rs183949231
|
0.00184
|
NM_017755.6(NSUN2):c.-13G>C
|
rs558458633
|
0.00181
|
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu)
|
rs139029314
|
0.00181
|
NM_021957.4(GYS2):c.*631del
|
rs576845625
|
0.00180
|
NM_002299.4(LCT):c.3341A>G (p.Gln1114Arg)
|
rs148838160
|
0.00178
|
NM_002299.4(LCT):c.4576C>T (p.Leu1526=)
|
rs140074771
|
0.00178
|
NM_024824.5(ZC3H14):c.853A>T (p.Ser285Cys)
|
rs145521296
|
0.00177
|
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn)
|
rs144486825
|
0.00176
|
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile)
|
rs28359542
|
0.00175
|
NM_005609.4(PYGM):c.924C>T (p.Ile308=)
|
rs139726186
|
0.00175
|
NM_175914.5(HNF4A):c.*2006T>C
|
rs150112206
|
0.00175
|
NM_000154.2(GALK1):c.934C>T (p.Arg312Cys)
|
rs201972845
|
0.00173
|
NM_000352.6(ABCC8):c.945C>T (p.Ala315=)
|
rs138521721
|
0.00173
|
NM_000512.5(GALNS):c.1127G>A (p.Arg376Gln)
|
rs150734270
|
0.00173
|
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala)
|
rs150433001
|
0.00173
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
NM_001352514.2(HLCS):c.*1856T>C
|
rs151042283
|
0.00171
|
NM_001008216.2(GALE):c.529-12C>T
|
rs369293480
|
0.00169
|
NM_002299.4(LCT):c.2457C>T (p.His819=)
|
rs149425549
|
0.00168
|
NM_001041.4(SI):c.3234G>A (p.Arg1078=)
|
rs56082035
|
0.00167
|
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu)
|
rs151071780
|
0.00167
|
NM_144563.3(RPIA):c.*256C>T
|
rs574766296
|
0.00167
|
NM_000298.6(PKLR):c.*14C>T
|
rs8177994
|
0.00166
|
NM_000293.3(PHKB):c.574A>G (p.Ile192Val)
|
rs117218785
|
0.00165
|
NM_001041.4(SI):c.1111G>A (p.Val371Met)
|
rs138434001
|
0.00165
|
NM_002103.5(GYS1):c.*301G>A
|
rs147489255
|
0.00165
|
NM_012434.5(SLC17A5):c.*1565C>T
|
rs543558815
|
0.00164
|
NM_017721.5(CC2D1A):c.1357-2A>C
|
rs200557641
|
0.00164
|
NM_000298.6(PKLR):c.814C>G (p.Leu272Val)
|
rs147659527
|
0.00163
|
NM_002103.5(GYS1):c.1848C>T (p.Ala616=)
|
rs145789213
|
0.00163
|
NM_002591.4(PCK1):c.141C>T (p.Asp47=)
|
rs45559338
|
0.00163
|
NM_000289.5(PFKM):c.-177G>C
|
rs78512814
|
0.00162
|
NM_012434.5(SLC17A5):c.*1492C>G
|
rs148144074
|
0.00162
|
NM_153281.2(HYAL1):c.-320_-319del
|
rs782640837
|
0.00162
|
NM_000152.5(GAA):c.-312C>T
|
rs574326920
|
0.00161
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
NM_175914.5(HNF4A):c.*1783G>T
|
rs564110189
|
0.00161
|
NM_000199.5(SGSH):c.*657C>T
|
rs564023302
|
0.00160
|
NM_000352.6(ABCC8):c.3399+13G>A
|
rs182340196
|
0.00160
|
NM_005609.4(PYGM):c.1888G>A (p.Val630Met)
|
rs115347245
|
0.00160
|
NM_005609.4(PYGM):c.1924C>T (p.Arg642Cys)
|
rs116180923
|
0.00160
|
NM_000294.3(PHKG2):c.288C>T (p.Ser96=)
|
rs56029513
|
0.00158
|
NM_000891.3(KCNJ2):c.*2483G>A
|
rs559751598
|
0.00158
|
NM_080749.4(NEURL2):c.-43A>G
|
rs554749359
|
0.00158
|
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)
|
rs142054672
|
0.00157
|
NM_001166290.2(KCNJ11):c.-17+514C>T
|
rs146464426
|
0.00156
|
NM_003041.4(SLC5A2):c.1773G>T (p.Glu591Asp)
|
rs149525864
|
0.00156
|
NM_017721.5(CC2D1A):c.1424C>T (p.Ser475Leu)
|
rs143529486
|
0.00156
|
NM_000027.4(AGA):c.303A>T (p.Ala101=)
|
rs142449515
|
0.00155
|
NM_005566.4(LDHA):c.-64T>C
|
rs200916427
|
0.00155
|
NM_006488.3(KHK):c.*596C>T
|
rs547856736
|
0.00155
|
NM_000458.4(HNF1B):c.*625C>T
|
rs188957129
|
0.00154
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00154
|
NM_006488.3(KHK):c.*469G>A
|
rs187387157
|
0.00154
|
NM_015275.3(WASHC4):c.49G>A (p.Asp17Asn)
|
rs191511427
|
0.00154
|
NM_000152.5(GAA):c.-116C>T
|
rs190152638
|
0.00153
|
NM_000294.3(PHKG2):c.393G>A (p.Arg131=)
|
rs55751949
|
0.00153
|
NM_000404.4(GLB1):c.*423A>G
|
rs79603348
|
0.00153
|
NM_005566.4(LDHA):c.*604A>T
|
rs148774730
|
0.00153
|
NM_004563.4(PCK2):c.1405C>T (p.Arg469Cys)
|
rs141383988
|
0.00152
|
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp)
|
rs35155575
|
0.00151
|
NM_016219.5(MAN1B1):c.1173C>T (p.Ser391=)
|
rs145704211
|
0.00151
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_002299.4(LCT):c.30T>C (p.Ile10=)
|
rs150024239
|
0.00150
|
NM_003477.3(PDHX):c.*331G>C
|
rs555691861
|
0.00150
|
NM_006488.3(KHK):c.790G>A (p.Val264Ile)
|
rs114353144
|
0.00150
|
NM_001041.4(SI):c.4951G>A (p.Val1651Ile)
|
rs139876383
|
0.00149
|
NM_012434.5(SLC17A5):c.*1155T>A
|
rs921762676
|
0.00149
|
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala)
|
rs144461610
|
0.00148
|
NM_005566.4(LDHA):c.439G>T (p.Ala147Ser)
|
rs116841148
|
0.00148
|
NM_003619.4(PRSS12):c.*574A>G
|
rs191638317
|
0.00147
|
NM_175914.5(HNF4A):c.*446G>A
|
rs548013860
|
0.00147
|
NM_002591.4(PCK1):c.1642G>A (p.Ala548Thr)
|
rs148684857
|
0.00146
|
NM_152419.3(HGSNAT):c.*3176G>A
|
rs138613130
|
0.00146
|
NM_000404.4(GLB1):c.1032T>C (p.Thr344=)
|
rs199927127
|
0.00145
|
NM_001543.5(NDST1):c.239G>A (p.Arg80His)
|
rs145390254
|
0.00145
|
NM_000046.4(ARSB):c.-331G>A
|
rs538223324
|
0.00144
|
NM_001160372.4(TRAPPC9):c.3157C>T (p.Arg1053Cys)
|
rs147499593
|
0.00144
|
NM_198586.3(NHLRC1):c.*326C>T
|
rs369668171
|
0.00144
|
NM_000030.3(AGXT):c.866G>A (p.Arg289His)
|
rs61729604
|
0.00143
|
NM_000642.3(AGL):c.1875G>T (p.Thr625=)
|
rs141944878
|
0.00143
|
NM_001352514.2(HLCS):c.*2921A>G
|
rs555149143
|
0.00141
|
NM_001352514.2(HLCS):c.*2243C>T
|
rs554230015
|
0.00140
|
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)
|
rs145062583
|
0.00139
|
NM_001184722.1(GPI):c.7G>A (p.Ala3Thr)
|
rs549433538
|
0.00139
|
NM_001041.4(SI):c.1043C>T (p.Pro348Leu)
|
rs77546399
|
0.00138
|
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile)
|
rs200750044
|
0.00138
|
NM_000151.4(G6PC1):c.-45G>A
|
rs367816430
|
0.00137
|
NM_000352.6(ABCC8):c.822+20C>T
|
rs181998151
|
0.00136
|
NM_002299.4(LCT):c.1113G>A (p.Arg371=)
|
rs148142216
|
0.00135
|
NM_006488.3(KHK):c.820G>A (p.Val274Met)
|
rs138164728
|
0.00135
|
NM_016219.5(MAN1B1):c.635T>G (p.Val212Gly)
|
rs186504463
|
0.00134
|
NM_152419.3(HGSNAT):c.1759G>A (p.Glu587Lys)
|
rs202128129
|
0.00134
|
NM_002863.5(PYGL):c.*78G>A
|
rs190588867
|
0.00133
|
NM_016042.4(EXOSC3):c.*555A>C
|
rs188744146
|
0.00133
|
NM_053013.4(ENO3):c.417G>A (p.Gly139=)
|
rs142390642
|
0.00133
|
NM_152419.3(HGSNAT):c.*871C>A
|
rs151315641
|
0.00133
|
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr)
|
rs150570281
|
0.00132
|
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)
|
rs141212446
|
0.00132
|
NM_000525.4(KCNJ11):c.584G>A (p.Arg195His)
|
rs5217
|
0.00131
|
NM_001739.2(CA5A):c.788G>A (p.Arg263His)
|
rs201195769
|
0.00131
|
NM_012434.5(SLC17A5):c.899C>T (p.Ser300Phe)
|
rs142553916
|
0.00131
|
NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn)
|
rs142272833
|
0.00130
|
NM_012203.2(GRHPR):c.286C>T (p.Arg96Cys)
|
rs78920863
|
0.00130
|
NM_003051.4(SLC16A1):c.*948G>A
|
rs543171131
|
0.00129
|
NM_144563.3(RPIA):c.*783A>G
|
rs184672681
|
0.00129
|
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn)
|
rs149606212
|
0.00128
|
NM_000262.3(NAGA):c.280G>A (p.Asp94Asn)
|
rs73167107
|
0.00128
|
NM_003051.4(SLC16A1):c.*104C>T
|
rs182505461
|
0.00128
|
NM_000365.6(TPI1):c.*219C>T
|
rs376899563
|
0.00127
|
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg)
|
rs150062050
|
0.00126
|
NM_000151.4(G6PC1):c.*120G>A
|
rs150477898
|
0.00126
|
NM_000262.3(NAGA):c.1209C>T (p.Ile403=)
|
rs201582948
|
0.00126
|
NM_000284.4(PDHA1):c.*549A>G
|
rs187525386
|
0.00126
|
NM_001040716.2(PC):c.616G>T (p.Val206Leu)
|
rs147945506
|
0.00126
|
NM_000158.4(GBE1):c.1521T>C (p.Thr507=)
|
rs372821643
|
0.00125
|
NM_000158.4(GBE1):c.15G>A (p.Met5Ile)
|
rs62267114
|
0.00125
|
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=)
|
rs146417316
|
0.00125
|
NM_000151.4(G6PC1):c.*986A>T
|
rs370935410
|
0.00124
|
NM_000151.4(G6PC1):c.340+10C>A
|
rs368450665
|
0.00124
|
NM_000154.2(GALK1):c.593C>T (p.Ala198Val)
|
rs80084721
|
0.00124
|
NM_000162.5(GCK):c.208+11G>A
|
rs77440690
|
0.00124
|
NM_000352.6(ABCC8):c.1177-56G>A
|
rs183921963
|
0.00123
|
NM_000642.3(AGL):c.968G>A (p.Arg323Gln)
|
rs139399527
|
0.00123
|
NM_001040716.2(PC):c.*89G>A
|
rs186152567
|
0.00123
|
NM_020897.3(HCN3):c.*1042A>G
|
rs559809916
|
0.00122
|
NM_000027.4(AGA):c.675T>C (p.Asn225=)
|
rs138699617
|
0.00121
|
NM_000340.2(SLC2A2):c.*1420T>C
|
rs182503337
|
0.00121
|
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_000298.6(PKLR):c.1706G>A (p.Arg569Gln)
|
rs61755431
|
0.00119
|
NM_000352.4(ABCC8):c.-215G>C
|
rs546148657
|
0.00119
|
NM_000035.4(ALDOB):c.*12C>T
|
rs201867948
|
0.00118
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_000181.4(GUSB):c.*94A>G
|
rs536903750
|
0.00118
|
NM_000290.4(PGAM2):c.726C>T (p.Ala242=)
|
rs142209394
|
0.00118
|
NM_000365.6(TPI1):c.463G>A (p.Val155Met)
|
rs188138723
|
0.00118
|
NM_001352514.2(HLCS):c.*3162T>C
|
rs552016201
|
0.00118
|
NM_000293.3(PHKB):c.1459-9G>T
|
rs201995780
|
0.00117
|
NM_003597.5(KLF11):c.*738A>G
|
rs146942100
|
0.00117
|
NM_000158.4(GBE1):c.2074G>A (p.Ala692Thr)
|
rs192877602
|
0.00116
|
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=)
|
rs111967655
|
0.00116
|
NM_000404.4(GLB1):c.1285C>T (p.Pro429Ser)
|
rs180869784
|
0.00116
|
NM_001041.4(SI):c.3972A>G (p.Pro1324=)
|
rs142838806
|
0.00116
|
NM_003619.4(PRSS12):c.966C>T (p.Gly322=)
|
rs144866250
|
0.00116
|
NM_152419.3(HGSNAT):c.*149G>T
|
rs191719106
|
0.00116
|
NM_000352.6(ABCC8):c.4656G>A (p.Lys1552=)
|
rs145386421
|
0.00115
|
NM_000525.4(KCNJ11):c.*862G>T
|
rs547635594
|
0.00115
|
NM_001352514.2(HLCS):c.*2163A>G
|
rs139776215
|
0.00115
|
NM_001807.6(CEL):c.2172del (p.Val725fs)
|
rs780419796
|
0.00115
|
NM_002500.5(NEUROD1):c.*164_*165del
|
rs574102237
|
0.00115
|
NM_000046.3(ARSB):c.-726C>T
|
rs116419942
|
0.00114
|
NM_000284.4(PDHA1):c.*575T>C
|
rs191995452
|
0.00114
|
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser)
|
rs76362149
|
0.00114
|
NM_000152.5(GAA):c.*288G>T
|
rs568131293
|
0.00113
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
NM_000199.5(SGSH):c.1002C>T (p.Ala334=)
|
rs145596938
|
0.00113
|
NM_000642.3(AGL):c.3431T>A (p.Ile1144Asn)
|
rs2230308
|
0.00113
|
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg)
|
rs201186470
|
0.00113
|
NM_005566.4(LDHA):c.183G>A (p.Glu61=)
|
rs149588992
|
0.00113
|
NM_000152.5(GAA):c.2415G>A (p.Val805=)
|
rs150536507
|
0.00112
|
NM_000284.4(PDHA1):c.*1297G>A
|
rs778678656
|
0.00112
|
NM_138413.4(HOGA1):c.*68C>T
|
rs551593998
|
0.00112
|
NM_003477.3(PDHX):c.589C>A (p.Leu197Met)
|
rs139052284
|
0.00111
|
NM_006488.3(KHK):c.507C>T (p.Ser169=)
|
rs148222785
|
0.00111
|
NM_000642.3(AGL):c.*1766G>A
|
rs564167641
|
0.00110
|
NM_001041.4(SI):c.5301G>A (p.Thr1767=)
|
rs150131334
|
0.00110
|
NM_001360016.2(G6PD):c.1048G>C (p.Asp350His)
|
rs34193178
|
0.00110
|
NM_004563.4(PCK2):c.1468+2T>C
|
rs148019349
|
0.00110
|
NM_000293.3(PHKB):c.270C>T (p.Cys90=)
|
rs139431568
|
0.00109
|
NM_000343.4(SLC5A1):c.*1744G>A
|
rs376602365
|
0.00109
|
NM_000528.4(MAN2B1):c.1110-8C>T
|
rs201690866
|
0.00109
|
NM_001041.4(SI):c.2320A>G (p.Arg774Gly)
|
rs147207752
|
0.00108
|
NM_002637.4(PHKA1):c.*553C>T
|
rs782055740
|
0.00108
|
NM_002863.5(PYGL):c.603G>T (p.Val201=)
|
rs138364932
|
0.00108
|
NM_012203.2(GRHPR):c.598+145G>T
|
rs72739643
|
0.00108
|
NM_017721.5(CC2D1A):c.15_23dup (p.7_9PPG[3])
|
rs755038966
|
0.00108
|
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val)
|
rs146636139
|
0.00108
|
NM_000404.4(GLB1):c.623G>A (p.Arg208His)
|
rs111840209
|
0.00106
|
NM_000434.4(NEU1):c.408G>A (p.Gly136=)
|
rs41267074
|
0.00106
|
NM_000642.3(AGL):c.*604A>G
|
rs189939228
|
0.00106
|
NM_003619.4(PRSS12):c.821-1G>A
|
rs147303693
|
0.00106
|
NM_000199.5(SGSH):c.390C>T (p.Thr130=)
|
rs111761143
|
0.00105
|
NM_002591.4(PCK1):c.*363G>A
|
rs1297980275
|
0.00105
|
NM_000642.3(AGL):c.*1558T>C
|
rs773444393
|
0.00104
|
NM_001360016.2(G6PD):c.*520G>A
|
rs782764609
|
0.00104
|
NM_000199.5(SGSH):c.181C>T (p.Arg61Cys)
|
rs142309764
|
0.00103
|
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=)
|
rs146156937
|
0.00103
|
NM_001160372.4(TRAPPC9):c.3149G>A (p.Arg1050Gln)
|
rs111768745
|
0.00103
|
NM_001352514.2(HLCS):c.*2444C>T
|
rs546201018
|
0.00103
|
NM_006755.1(TALDO1):c.-30C>T
|
rs373293125
|
0.00103
|
NM_175914.5(HNF4A):c.*1013G>A
|
rs767537996
|
0.00103
|
NM_000343.4(SLC5A1):c.*649G>A
|
rs544819758
|
0.00102
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
NM_000365.6(TPI1):c.192G>A (p.Ala64=)
|
rs149190846
|
0.00102
|
NM_002591.4(PCK1):c.556G>A (p.Asp186Asn)
|
rs11552146
|
0.00102
|
NM_000046.5(ARSB):c.82C>T (p.Leu28=)
|
rs138587718
|
0.00101
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_000155.4(GALT):c.919T>A (p.Ser307Thr)
|
rs61735983
|
0.00101
|
NM_000162.5(GCK):c.-455A>G
|
rs140894490
|
0.00101
|
NM_005883.3(APC2):c.5108C>A (p.Ala1703Glu)
|
rs200444154
|
0.00100
|
NM_001040716.2(PC):c.1513+13del
|
rs755170894
|
0.00099
|
NM_018444.4(PDP1):c.*1649_*1650insG
|
rs886063184
|
0.00099
|
NM_000027.4(AGA):c.762C>T (p.Ala254=)
|
rs145465919
|
0.00098
|
NM_000352.6(ABCC8):c.1630+10C>T
|
rs188075767
|
0.00098
|
NM_000434.4(NEU1):c.*596G>T
|
rs749671704
|
0.00098
|
NM_000507.3(FBP1):c.-238G>A
|
rs974736435
|
0.00098
|
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala)
|
rs61736727
|
0.00098
|
NM_012434.5(SLC17A5):c.85G>A (p.Ala29Thr)
|
rs141463026
|
0.00098
|
NM_000199.5(SGSH):c.1446C>T (p.Ala482=)
|
rs113679696
|
0.00097
|
NM_000458.4(HNF1B):c.1045+12T>C
|
rs141166864
|
0.00097
|
NM_002294.3(LAMP2):c.*4963del
|
rs754879365
|
0.00097
|
NM_000027.4(AGA):c.*852C>T
|
rs182081300
|
0.00096
|
NM_000199.5(SGSH):c.1322G>A (p.Arg441Gln)
|
rs142599919
|
0.00096
|
NM_003597.5(KLF11):c.*1608T>G
|
rs142746538
|
0.00096
|
NM_000404.4(GLB1):c.1588C>T (p.Arg530Cys)
|
rs371397760
|
0.00095
|
NM_002637.4(PHKA1):c.3068G>A (p.Ser1023Asn)
|
rs782344973
|
0.00095
|
NM_000152.5(GAA):c.*443G>A
|
rs147801821
|
0.00093
|
NM_000512.5(GALNS):c.1247T>C (p.Ile416Thr)
|
rs142822371
|
0.00093
|
NM_000284.4(PDHA1):c.*349A>G
|
rs1013526559
|
0.00092
|
NM_000512.5(GALNS):c.303C>T (p.Asn101=)
|
rs79146426
|
0.00092
|
NM_138413.4(HOGA1):c.*425T>C
|
rs189957405
|
0.00092
|
NM_001352514.2(HLCS):c.331-7170T>A
|
rs181989786
|
0.00091
|
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser)
|
rs147120329
|
0.00091
|
NM_006755.2(TALDO1):c.36G>A (p.Glu12=)
|
rs150420496
|
0.00091
|
NM_000030.3(AGXT):c.166-56C>T
|
rs114401766
|
0.00090
|
NM_002299.4(LCT):c.3848C>T (p.Thr1283Met)
|
rs147755711
|
0.00090
|
NM_000151.4(G6PC1):c.*1039G>T
|
rs549474805
|
0.00089
|
NM_000290.4(PGAM2):c.459C>T (p.Cys153=)
|
rs143809043
|
0.00089
|
NM_000434.4(NEU1):c.432C>T (p.Ser144=)
|
rs114405905
|
0.00089
|
NM_002591.4(PCK1):c.1152G>A (p.Thr384=)
|
rs141878699
|
0.00089
|
NM_005566.4(LDHA):c.*762T>G
|
rs189063205
|
0.00089
|
NM_000046.5(ARSB):c.1078C>T (p.Leu360=)
|
rs140923667
|
0.00088
|
NM_000199.5(SGSH):c.303C>T (p.Phe101=)
|
rs150482611
|
0.00088
|
NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)
|
rs200164758
|
0.00088
|
NM_002294.3(LAMP2):c.*853G>A
|
rs763861761
|
0.00088
|
NM_005908.4(MANBA):c.479G>A (p.Arg160His)
|
rs144917953
|
0.00088
|
NM_006618.5(KDM5B):c.2320A>G (p.Lys774Glu)
|
rs141191327
|
0.00088
|
NM_145262.4(GLYCTK):c.384G>C (p.Met128Ile)
|
rs150662353
|
0.00088
|
NM_000027.4(AGA):c.*457A>G
|
rs3749478
|
0.00087
|
NM_000151.4(G6PC1):c.*1400G>A
|
rs113536060
|
0.00087
|
NM_000263.4(NAGLU):c.1438G>A (p.Ala480Thr)
|
rs147293270
|
0.00087
|
NM_000293.3(PHKB):c.*2075G>A
|
rs189124531
|
0.00087
|
NM_001352514.2(HLCS):c.1695C>T (p.Leu565=)
|
rs138209330
|
0.00087
|
NM_001352514.2(HLCS):c.865G>A (p.Val289Ile)
|
rs149291867
|
0.00087
|
NM_016219.5(MAN1B1):c.304A>C (p.Ile102Leu)
|
rs149322865
|
0.00087
|
NM_175914.5(HNF4A):c.*3153C>A
|
rs569302875
|
0.00087
|
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys)
|
rs35885472
|
0.00086
|
NM_000343.4(SLC5A1):c.35C>T (p.Ala12Val)
|
rs150288967
|
0.00086
|
NM_001041.4(SI):c.*121C>T
|
rs530056606
|
0.00086
|
NM_001370658.1(BTD):c.1041C>T (p.Gly347=)
|
rs142421934
|
0.00086
|
NM_002299.4(LCT):c.2883C>T (p.Ala961=)
|
rs140994860
|
0.00086
|
NM_003041.4(SLC5A2):c.704G>A (p.Gly235Glu)
|
rs138795531
|
0.00086
|
NM_003051.3(SLC16A1):c.-349G>A
|
rs750771668
|
0.00086
|
NM_006488.3(KHK):c.*259T>G
|
rs766868467
|
0.00086
|
NM_002299.4(LCT):c.4026G>A (p.Thr1342=)
|
rs150640616
|
0.00085
|
NM_005327.7(HADH):c.*377G>A
|
rs148809781
|
0.00084
|
NM_175914.5(HNF4A):c.84G>A (p.Ala28=)
|
rs41282026
|
0.00084
|
NM_000154.2(GALK1):c.864G>C (p.Thr288=)
|
rs201247556
|
0.00083
|
NM_000199.5(SGSH):c.*378G>A
|
rs372712517
|
0.00083
|
NM_000340.2(SLC2A2):c.1432C>G (p.Leu478Val)
|
rs5397
|
0.00083
|
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=)
|
rs147623093
|
0.00083
|
NM_000404.4(GLB1):c.1426C>T (p.Leu476=)
|
rs113534264
|
0.00083
|
NM_000528.4(MAN2B1):c.*105C>G
|
rs547349667
|
0.00083
|
NM_002103.5(GYS1):c.*868A>G
|
rs571576339
|
0.00083
|
NM_002299.4(LCT):c.4646A>G (p.Tyr1549Cys)
|
rs147495948
|
0.00082
|
NM_003477.3(PDHX):c.579A>G (p.Glu193=)
|
rs61752926
|
0.00082
|
NM_033159.4(HYAL1):c.679G>A (p.Ala227Thr)
|
rs143176318
|
0.00082
|
NM_152419.3(HGSNAT):c.1880A>G (p.Tyr627Cys)
|
rs192857413
|
0.00082
|
NM_000203.5(IDUA):c.408C>T (p.Ala136=)
|
rs138195998
|
0.00081
|
NM_000352.6(ABCC8):c.4198+18C>T
|
rs373178978
|
0.00081
|
NM_000365.6(TPI1):c.366C>T (p.Leu122=)
|
rs138131191
|
0.00081
|
NM_001041.4(SI):c.3781G>A (p.Asp1261Asn)
|
rs149783130
|
0.00081
|
NM_003619.4(PRSS12):c.2460C>T (p.Ser820=)
|
rs146650218
|
0.00081
|
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser)
|
rs114468011
|
0.00081
|
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile)
|
rs143960563
|
0.00081
|
NM_000108.5(DLD):c.788G>A (p.Arg263His)
|
rs145670503
|
0.00080
|
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr)
|
rs201826605
|
0.00080
|
NM_001040716.2(PC):c.2550C>T (p.Cys850=)
|
rs61749179
|
0.00080
|
NM_000151.4(G6PC1):c.*2800G>A
|
rs886052967
|
0.00079
|
NM_001041.4(SI):c.825C>T (p.Tyr275=)
|
rs139867598
|
0.00079
|
NM_000027.4(AGA):c.376C>G (p.Leu126Val)
|
rs200420067
|
0.00078
|
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser)
|
rs144222167
|
0.00078
|
NM_000203.5(IDUA):c.234C>T (p.Gly78=)
|
rs138932617
|
0.00078
|
NM_000263.3(NAGLU):c.-167G>T
|
rs145830042
|
0.00078
|
NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)
|
rs140473672
|
0.00078
|
NM_000528.4(MAN2B1):c.1230+9G>C
|
rs367590716
|
0.00078
|
NM_012203.2(GRHPR):c.801A>C (p.Gly267=)
|
rs141800325
|
0.00078
|
NM_012434.5(SLC17A5):c.*1533A>G
|
rs530389010
|
0.00078
|
NM_152419.3(HGSNAT):c.*304C>A
|
rs752711559
|
0.00078
|
NM_000512.5(GALNS):c.324C>T (p.Tyr108=)
|
rs150582627
|
0.00077
|
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)
|
rs143318498
|
0.00077
|
NM_001164277.2(SLC37A4):c.-700+9C>T
|
rs534659292
|
0.00077
|
NM_005327.7(HADH):c.*600C>T
|
rs544321475
|
0.00077
|
NM_005609.4(PYGM):c.1787A>G (p.Asn596Ser)
|
rs150622626
|
0.00077
|
NM_016042.4(EXOSC3):c.328G>A (p.Val110Ile)
|
rs138169215
|
0.00077
|
NM_024989.4(PGAP1):c.331A>G (p.Lys111Glu)
|
rs142320636
|
0.00077
|
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=)
|
rs184883937
|
0.00077
|
NM_000027.4(AGA):c.*96A>T
|
rs141424240
|
0.00076
|
NM_000262.3(NAGA):c.*107G>A
|
rs531819016
|
0.00076
|
NM_000291.4(PGK1):c.1048C>T (p.Arg350Trp)
|
rs183087139
|
0.00076
|
NM_000340.2(SLC2A2):c.158G>A (p.Arg53Gln)
|
rs145210664
|
0.00076
|
NM_000512.5(GALNS):c.*523G>A
|
rs181174683
|
0.00076
|
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)
|
rs186476316
|
0.00076
|
NM_002294.3(LAMP2):c.*1413A>G
|
rs773379092
|
0.00076
|
NM_033159.4(HYAL1):c.*434C>T
|
rs182987423
|
0.00076
|
NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln)
|
rs139281846
|
0.00075
|
NM_000642.3(AGL):c.4214A>G (p.Glu1405Gly)
|
rs28730708
|
0.00075
|
NM_000340.2(SLC2A2):c.*1207G>A
|
rs28579899
|
0.00074
|
NM_001352514.2(HLCS):c.1331G>A (p.Arg444Gln)
|
rs146030669
|
0.00074
|
NM_001366110.1(PAX4):c.313C>T (p.Arg105Cys)
|
rs144792551
|
0.00074
|
NM_002076.4(GNS):c.*1681C>G
|
rs142676698
|
0.00074
|
NM_002294.3(LAMP2):c.*3488C>T
|
rs773236667
|
0.00074
|
NM_005327.4(HADH):c.-51delC
|
rs574132278
|
0.00074
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn)
|
rs181795958
|
0.00074
|
NM_000046.5(ARSB):c.*1420G>A
|
rs79166190
|
0.00073
|
NM_000158.4(GBE1):c.*468G>A
|
rs750772386
|
0.00073
|
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_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)
|
rs139631202
|
0.00072
|
NM_001164277.2(SLC37A4):c.785+6A>T
|
rs369358436
|
0.00072
|
NM_017721.5(CC2D1A):c.2657G>A (p.Arg886His)
|
rs201921029
|
0.00072
|
NM_213606.4(SLC16A12):c.472T>C (p.Ser158Pro)
|
rs150800688
|
0.00072
|
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys)
|
rs201758548
|
0.00071
|
NM_000289.6(PFKM):c.453G>A (p.Thr151=)
|
rs144370737
|
0.00071
|
NM_000891.3(KCNJ2):c.*2277C>T
|
rs185701493
|
0.00071
|
NM_000046.5(ARSB):c.*965A>G
|
rs144818735
|
0.00070
|
NM_000294.3(PHKG2):c.-28G>T
|
rs556945561
|
0.00070
|
NM_002300.8(LDHB):c.621G>T (p.Val207=)
|
rs147896432
|
0.00070
|
NM_152419.3(HGSNAT):c.*778T>C
|
rs557848863
|
0.00070
|
NM_175914.5(HNF4A):c.426+6G>A
|
rs182980547
|
0.00070
|
NM_002637.4(PHKA1):c.*1275A>G
|
rs782306248
|
0.00069
|
NM_017721.5(CC2D1A):c.2048G>A (p.Arg683Gln)
|
rs201251295
|
0.00069
|
NM_152419.3(HGSNAT):c.*772C>G
|
rs538483135
|
0.00069
|
NM_198586.3(NHLRC1):c.*442G>C
|
rs555214908
|
0.00069
|
NM_000158.4(GBE1):c.*555G>A
|
rs143820392
|
0.00068
|
NM_000284.4(PDHA1):c.*432C>T
|
rs754719295
|
0.00068
|
NM_000434.4(NEU1):c.402C>T (p.Pro134=)
|
rs142833447
|
0.00068
|
NM_000512.5(GALNS):c.858G>A (p.Thr286=)
|
rs140299014
|
0.00068
|
NM_000642.3(AGL):c.*1610T>C
|
rs184983509
|
0.00068
|
NM_005271.5(GLUD1):c.*1501G>C
|
rs768450394
|
0.00068
|
NM_005908.4(MANBA):c.*8T>G
|
rs199881261
|
0.00068
|
NM_006488.3(KHK):c.562G>A (p.Val188Met)
|
rs41288797
|
0.00068
|
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=)
|
rs78388808
|
0.00068
|
NM_138413.4(HOGA1):c.708G>T (p.Val236=)
|
rs61731946
|
0.00068
|
NM_000365.6(TPI1):c.448G>T (p.Val150Phe)
|
rs150585849
|
0.00067
|
NM_000891.3(KCNJ2):c.*1794C>A
|
rs55864879
|
0.00067
|
NM_000046.5(ARSB):c.1337-3T>A
|
rs183651028
|
0.00066
|
NM_000154.2(GALK1):c.746C>T (p.Ala249Val)
|
rs149825190
|
0.00066
|
NM_000293.3(PHKB):c.1746A>G (p.Leu582=)
|
rs111970242
|
0.00066
|
NM_001041.4(SI):c.5403C>T (p.Asp1801=)
|
rs146830505
|
0.00066
|
NM_001160372.4(TRAPPC9):c.2671A>C (p.Thr891Pro)
|
rs562249191
|
0.00066
|
NM_002299.4(LCT):c.3286G>A (p.Ala1096Thr)
|
rs146467199
|
0.00066
|
NM_003384.3(VRK1):c.1020C>T (p.Asp340=)
|
rs147853760
|
0.00066
|
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val)
|
rs61736659
|
0.00065
|
NM_000458.4(HNF1B):c.*691A>G
|
rs751817675
|
0.00064
|
NM_000642.3(AGL):c.334A>G (p.Ile112Val)
|
rs147024351
|
0.00064
|
NM_014806.5(RUSC2):c.119C>A (p.Thr40Lys)
|
rs146271483
|
0.00064
|
NM_017721.5(CC2D1A):c.1448C>A (p.Pro483His)
|
rs201884654
|
0.00064
|
NM_000181.4(GUSB):c.764T>A (p.Leu255Gln)
|
rs140709901
|
0.00063
|
NM_000263.3(NAGLU):c.-212G>C
|
rs538288877
|
0.00063
|
NM_000263.4(NAGLU):c.1446G>A (p.Arg482=)
|
rs115994665
|
0.00063
|
NM_000507.4(FBP1):c.334-15T>C
|
rs370920869
|
0.00063
|
NM_001360016.2(G6PD):c.582C>G (p.Asp194Glu)
|
rs145247580
|
0.00063
|
NM_003041.4(SLC5A2):c.1692G>A (p.Arg564=)
|
rs147697689
|
0.00063
|
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)
|
rs180984980
|
0.00062
|
NM_001366110.1(PAX4):c.1013C>T (p.Ala338Val)
|
rs2233583
|
0.00062
|
NM_005327.7(HADH):c.*168A>T
|
rs532458283
|
0.00062
|
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)
|
rs141959242
|
0.00062
|
NM_017721.5(CC2D1A):c.1192G>A (p.Val398Met)
|
rs201177183
|
0.00062
|
NM_000030.3(AGXT):c.*39G>A
|
rs369979466
|
0.00061
|
NM_000284.4(PDHA1):c.*321C>T
|
rs886566327
|
0.00061
|
NM_000352.5(ABCC8):c.*118A>G
|
rs142441893
|
0.00061
|
NM_001352514.2(HLCS):c.331-7076C>T
|
rs541806392
|
0.00061
|
NM_002076.4(GNS):c.*1861del
|
rs3832839
|
0.00061
|
NM_002103.5(GYS1):c.*357G>A
|
rs570639504
|
0.00061
|
NM_152419.3(HGSNAT):c.12G>A (p.Ala4=)
|
rs1018475767
|
0.00061
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00061
|
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln)
|
rs137853242
|
0.00060
|
NM_001040716.2(PC):c.496G>A (p.Val166Ile)
|
rs147697454
|
0.00060
|
NM_152419.3(HGSNAT):c.*390G>A
|
rs541493842
|
0.00060
|
NM_001352514.2(HLCS):c.*2814C>T
|
rs146199781
|
0.00059
|
NM_003384.3(VRK1):c.1021C>T (p.Leu341Phe)
|
rs139734064
|
0.00059
|
NM_005908.4(MANBA):c.531T>C (p.His177=)
|
rs149902075
|
0.00059
|
NM_145262.4(GLYCTK):c.791T>A (p.Val264Glu)
|
rs73088796
|
0.00059
|
NM_152419.3(HGSNAT):c.199T>C (p.Leu67=)
|
rs376924663
|
0.00059
|
NM_000208.4(INSR):c.1550A>G (p.Glu517Gly)
|
rs147671523
|
0.00058
|
NM_000512.5(GALNS):c.1242+3A>G
|
rs377067312
|
0.00058
|
NM_001008216.2(GALE):c.*178G>A
|
rs1803612
|
0.00058
|
NM_005609.4(PYGM):c.182G>A (p.Arg61His)
|
rs145514333
|
0.00058
|
NM_018255.4(ELP2):c.1381C>A (p.Leu461Ile)
|
rs35094617
|
0.00058
|
NM_138413.4(HOGA1):c.*950G>A
|
rs190392004
|
0.00058
|
NM_000155.4(GALT):c.687+9G>C
|
rs117998880
|
0.00057
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
NM_000642.2(AGL):c.-134C>G
|
rs548243205
|
0.00057
|
NM_001040716.2(PC):c.3107G>A (p.Arg1036His)
|
rs141237842
|
0.00057
|
NM_002300.8(LDHB):c.767G>A (p.Ser256Asn)
|
rs145355418
|
0.00057
|
NM_006516.2(SLC2A1):c.-368A>C
|
rs528964239
|
0.00057
|
NM_000152.5(GAA):c.2417C>T (p.Thr806Met)
|
rs139850074
|
0.00056
|
NM_000263.4(NAGLU):c.353C>T (p.Pro118Leu)
|
rs530062090
|
0.00056
|
NM_000298.6(PKLR):c.1614A>T (p.Glu538Asp)
|
rs201217064
|
0.00056
|
NM_000343.3(SLC5A1):c.-60C>T
|
rs200410750
|
0.00056
|
NM_000352.4(ABCC8):c.-544G>A
|
rs184908312
|
0.00056
|
NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)
|
rs368834616
|
0.00056
|
NM_001160372.4(TRAPPC9):c.1019C>T (p.Ala340Val)
|
rs143778652
|
0.00056
|
NM_001160372.4(TRAPPC9):c.3175G>A (p.Ala1059Thr)
|
rs150200902
|
0.00056
|
NM_001352514.2(HLCS):c.*2545C>A
|
rs180866987
|
0.00056
|
NM_003051.4(SLC16A1):c.*1654A>G
|
rs761298128
|
0.00056
|
NM_003477.3(PDHX):c.161-6T>C
|
rs200438675
|
0.00056
|
NM_138413.4(HOGA1):c.*292C>T
|
rs771988623
|
0.00056
|
NM_000292.3(PHKA2):c.785T>G (p.Ile262Ser)
|
rs145406549
|
0.00055
|
NM_003597.5(KLF11):c.-83G>A
|
rs943136426
|
0.00055
|
NM_017721.5(CC2D1A):c.1095G>T (p.Gln365His)
|
rs201420492
|
0.00055
|
NM_138413.4(HOGA1):c.*850G>T
|
rs560555907
|
0.00055
|
NM_175914.5(HNF4A):c.*271C>T
|
rs11574745
|
0.00055
|
NM_000158.4(GBE1):c.1877A>G (p.Asn626Ser)
|
rs185631651
|
0.00054
|
NM_002103.5(GYS1):c.1324C>G (p.Pro442Ala)
|
rs142951866
|
0.00054
|
NM_002299.4(LCT):c.1539G>A (p.Glu513=)
|
rs202186209
|
0.00054
|
NM_003597.5(KLF11):c.*2265T>A
|
rs757068768
|
0.00054
|
NM_006765.4(TUSC3):c.38C>T (p.Ala13Val)
|
rs200808372
|
0.00054
|
NM_000151.4(G6PC1):c.*1986T>C
|
rs542411157
|
0.00053
|
NM_000199.5(SGSH):c.1209C>T (p.Tyr403=)
|
rs115750405
|
0.00053
|
NM_000642.3(AGL):c.*698A>G
|
rs537319413
|
0.00053
|
NM_000642.3(AGL):c.1759C>T (p.His587Tyr)
|
rs139488862
|
0.00053
|
NM_001008216.2(GALE):c.611T>C (p.Ile204Thr)
|
rs143924570
|
0.00053
|
NM_005327.4(HADH):c.-115delG
|
rs537335460
|
0.00053
|
NM_012434.5(SLC17A5):c.*1630G>T
|
rs141885984
|
0.00053
|
NM_000046.5(ARSB):c.*3047T>C
|
rs560253823
|
0.00052
|
NM_000108.5(DLD):c.*1307C>T
|
rs568807016
|
0.00052
|
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=)
|
rs200831987
|
0.00052
|
NM_000203.5(IDUA):c.493+7G>A
|
rs200509712
|
0.00052
|
NM_000262.3(NAGA):c.479C>G (p.Ser160Cys)
|
rs121434532
|
0.00052
|
NM_000507.4(FBP1):c.275C>T (p.Thr92Met)
|
rs141270413
|
0.00052
|
NM_138413.4(HOGA1):c.*55T>C
|
rs763365957
|
0.00052
|
NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys)
|
rs151185188
|
0.00051
|
NM_000046.5(ARSB):c.88C>T (p.Leu30=)
|
rs766870239
|
0.00051
|
NM_000199.5(SGSH):c.*499C>T
|
rs886053555
|
0.00051
|
NM_000293.3(PHKB):c.436A>G (p.Thr146Ala)
|
rs146558295
|
0.00051
|
NM_000512.5(GALNS):c.*197C>T
|
rs187469283
|
0.00051
|
NM_000642.3(AGL):c.*595A>G
|
rs763929813
|
0.00051
|
NM_000642.3(AGL):c.1908A>G (p.Ser636=)
|
rs144723143
|
0.00051
|
NM_000925.4(PDHB):c.701-3C>T
|
rs377063331
|
0.00051
|
NM_001040716.2(PC):c.3391G>A (p.Val1131Met)
|
rs116518022
|
0.00051
|
NM_001041.4(SI):c.2892G>A (p.Thr964=)
|
rs145486890
|
0.00051
|
NM_001164277.2(SLC37A4):c.242C>T (p.Ser81Phe)
|
rs181879065
|
0.00051
|
NM_003384.3(VRK1):c.858G>T (p.Met286Ile)
|
rs139476915
|
0.00051
|
NM_006755.2(TALDO1):c.181C>G (p.Leu61Val)
|
rs149640294
|
0.00051
|
NM_000199.5(SGSH):c.1296C>T (p.Tyr432=)
|
rs141153056
|
0.00050
|
NM_000207.3(INS):c.227G>A (p.Ser76Asn)
|
rs139264769
|
0.00050
|
NM_000925.4(PDHB):c.1029A>G (p.Ile343Met)
|
rs149830613
|
0.00050
|
NM_001008216.2(GALE):c.873+13_873+14insA
|
rs765063773
|
0.00050
|
NM_002500.5(NEUROD1):c.*253A>G
|
rs546609239
|
0.00050
|
NM_003477.3(PDHX):c.674C>T (p.Thr225Met)
|
rs148645836
|
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_000046.5(ARSB):c.*810C>T
|
rs777160780
|
0.00048
|
NM_000162.5(GCK):c.483+26C>A
|
rs142668032
|
0.00048
|
NM_000208.4(INSR):c.2573C>T (p.Thr858Met)
|
rs201466857
|
0.00048
|
NM_000262.3(NAGA):c.*176C>G
|
rs191051580
|
0.00048
|
NM_000263.4(NAGLU):c.2157G>A (p.Pro719=)
|
rs114687267
|
0.00048
|
NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe)
|
rs370424471
|
0.00048
|
NM_000293.3(PHKB):c.2195A>G (p.Asn732Ser)
|
rs201360702
|
0.00048
|
NM_001014436.3(DBNL):c.*4099G>A
|
rs201133395
|
0.00048
|
NM_003051.4(SLC16A1):c.*516C>G
|
rs754537571
|
0.00048
|
NM_006755.2(TALDO1):c.68C>G (p.Thr23Ser)
|
rs144787855
|
0.00048
|
NM_016042.4(EXOSC3):c.448A>G (p.Thr150Ala)
|
rs145464176
|
0.00048
|
NM_000147.5(FUCA1):c.1119A>G (p.Lys373=)
|
rs370453371
|
0.00047
|
NM_000512.5(GALNS):c.*573A>G
|
rs551511278
|
0.00047
|
NM_000642.3(AGL):c.1028G>A (p.Arg343Gln)
|
rs137943515
|
0.00047
|
NM_001360016.2(G6PD):c.*75C>T
|
rs938857639
|
0.00047
|
NM_016042.4(EXOSC3):c.430T>C (p.Leu144=)
|
rs138085418
|
0.00047
|
NM_138413.4(HOGA1):c.931C>T (p.Pro311Ser)
|
rs116455504
|
0.00047
|
NM_000046.5(ARSB):c.*2251G>A
|
rs532513960
|
0.00046
|
NM_000108.5(DLD):c.*1791_*1794del
|
rs760145994
|
0.00046
|
NM_000162.5(GCK):c.*11C>T
|
rs200698755
|
0.00046
|
NM_000298.6(PKLR):c.507+14C>A
|
rs201156800
|
0.00046
|
NM_001164277.2(SLC37A4):c.1286A>C (p.Glu429Ala)
|
rs149974794
|
0.00046
|
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)
|
rs148839812
|
0.00046
|
NM_016219.5(MAN1B1):c.1744C>T (p.Arg582Cys)
|
rs142406504
|
0.00046
|
NM_022895.3(C12orf43):c.*1891G>A
|
rs568653423
|
0.00046
|
NM_033159.4(HYAL1):c.1290G>C (p.Glu430Asp)
|
rs147678727
|
0.00046
|
NM_152419.3(HGSNAT):c.765C>T (p.Val255=)
|
rs137963729
|
0.00046
|
NM_000046.5(ARSB):c.406G>A (p.Ala136Thr)
|
rs146704780
|
0.00045
|
NM_000108.5(DLD):c.100A>G (p.Thr34Ala)
|
rs138002793
|
0.00045
|
NM_000154.2(GALK1):c.66G>A (p.Glu22=)
|
rs367558510
|
0.00045
|
NM_000298.6(PKLR):c.-26C>T
|
rs200181342
|
0.00045
|
NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)
|
rs139435774
|
0.00045
|
NM_000642.3(AGL):c.*564T>C
|
rs552782825
|
0.00045
|
NM_001160372.4(TRAPPC9):c.853C>T (p.Arg285Trp)
|
rs141441030
|
0.00045
|
NM_001352514.2(HLCS):c.215A>T (p.Lys72Met)
|
rs191115811
|
0.00045
|
NM_002076.4(GNS):c.876-3C>T
|
rs73323465
|
0.00045
|
NM_022895.3(C12orf43):c.*1649G>A
|
rs56335342
|
0.00045
|
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=)
|
rs146522699
|
0.00044
|
NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His)
|
rs139041112
|
0.00044
|
NM_002863.5(PYGL):c.147C>T (p.Thr49=)
|
rs139338050
|
0.00044
|
NM_012434.5(SLC17A5):c.*762C>T
|
rs768718508
|
0.00044
|
NM_017755.6(NSUN2):c.258C>T (p.His86=)
|
rs141912087
|
0.00044
|
NM_017755.6(NSUN2):c.529C>T (p.His177Tyr)
|
rs149196615
|
0.00044
|
NM_020066.5(FMN2):c.575A>T (p.Gln192Leu)
|
rs150505248
|
0.00044
|
NM_138413.4(HOGA1):c.237C>T (p.Gly79=)
|
rs148094180
|
0.00044
|
NM_000030.3(AGXT):c.35A>G (p.Lys12Arg)
|
rs142969817
|
0.00043
|
NM_000030.3(AGXT):c.865C>T (p.Arg289Cys)
|
rs180177290
|
0.00043
|
NM_000203.5(IDUA):c.494G>A (p.Gly165Asp)
|
rs150763745
|
0.00043
|
NM_000289.6(PFKM):c.*622G>A
|
rs568063197
|
0.00043
|
NM_001352514.2(HLCS):c.1347G>C (p.Arg449Ser)
|
rs142621386
|
0.00043
|
NM_001352514.2(HLCS):c.1390G>T (p.Val464Leu)
|
rs144705277
|
0.00043
|
NM_002076.4(GNS):c.117G>T (p.Gly39=)
|
rs371407400
|
0.00043
|
NM_002299.4(LCT):c.1461G>A (p.Ala487=)
|
rs146206234
|
0.00043
|
NM_002299.4(LCT):c.2760C>T (p.Gly920=)
|
rs200579267
|
0.00043
|
NM_002591.4(PCK1):c.64A>G (p.Ser22Gly)
|
rs140235265
|
0.00043
|
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met)
|
rs199644216
|
0.00043
|
NM_153747.2(PIGC):c.389C>T (p.Thr130Ile)
|
rs146481462
|
0.00043
|
NM_000027.4(AGA):c.*752G>C
|
rs540646864
|
0.00042
|
NM_000155.3(GALT):c.-88G>A
|
rs144505931
|
0.00042
|
NM_001164277.2(SLC37A4):c.205G>T (p.Val69Leu)
|
rs375754042
|
0.00042
|
NM_001370658.1(BTD):c.68A>G (p.His23Arg)
|
rs146011150
|
0.00042
|
NM_003477.3(PDHX):c.*743G>A
|
rs577162977
|
0.00042
|
NM_005609.4(PYGM):c.1692C>T (p.Phe564=)
|
rs116812032
|
0.00042
|
NM_152419.3(HGSNAT):c.*3198G>A
|
rs576281567
|
0.00042
|
NM_000209.4(PDX1):c.211C>A (p.Pro71Thr)
|
rs564129447
|
0.00041
|
NM_000263.4(NAGLU):c.1119G>T (p.Val373=)
|
rs371656965
|
0.00041
|
NM_000293.3(PHKB):c.305+11G>T
|
rs368293023
|
0.00041
|
NM_000525.4(KCNJ11):c.-546G>T
|
rs886048045
|
0.00041
|
NM_001040716.2(PC):c.486G>A (p.Ala162=)
|
rs142416378
|
0.00041
|
NM_001041.4(SI):c.2737G>T (p.Val913Phe)
|
rs200328496
|
0.00041
|
NM_001127628.2(FBP1):c.-24-321C>G
|
rs28382859
|
0.00041
|
NM_001160372.4(TRAPPC9):c.2557-14T>A
|
rs757482428
|
0.00041
|
NM_002076.4(GNS):c.*152G>A
|
rs768957003
|
0.00041
|
NM_002076.4(GNS):c.*357T>C
|
rs554471490
|
0.00041
|
NM_002863.5(PYGL):c.1920G>A (p.Lys640=)
|
rs140296036
|
0.00041
|
NM_003051.3(SLC16A1):c.-248G>T
|
rs762453730
|
0.00041
|
NM_003597.5(KLF11):c.*756C>T
|
rs886054727
|
0.00041
|
NM_004130.4(GYG1):c.68G>A (p.Gly23Glu)
|
rs112622137
|
0.00041
|
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg)
|
rs374826256
|
0.00041
|
NM_012434.5(SLC17A5):c.957C>A (p.Ile319=)
|
rs147732875
|
0.00041
|
NM_017755.6(NSUN2):c.1226+4A>T
|
rs202085420
|
0.00041
|
NM_031229.4(RBCK1):c.173G>C (p.Trp58Ser)
|
rs143804674
|
0.00041
|
NM_053013.4(ENO3):c.865+3G>A
|
rs147327991
|
0.00041
|
NM_175914.5(HNF4A):c.726G>A (p.Val242=)
|
rs145280017
|
0.00041
|
NM_000046.3(ARSB):c.-590A>T
|
rs138175832
|
0.00040
|
NM_000108.5(DLD):c.*1857A>C
|
rs774099916
|
0.00040
|
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=)
|
rs150905331
|
0.00040
|
NM_000298.6(PKLR):c.92C>T (p.Ala31Val)
|
rs150077703
|
0.00040
|
NM_000507.4(FBP1):c.670G>A (p.Val224Ile)
|
rs140222720
|
0.00040
|
NM_002294.3(LAMP2):c.*4757A>G
|
rs767652057
|
0.00040
|
NM_003619.4(PRSS12):c.*920G>C
|
rs567789007
|
0.00040
|
NM_032808.7(LINGO1):c.295G>A (p.Glu99Lys)
|
rs150289554
|
0.00040
|
NM_000046.5(ARSB):c.1123G>A (p.Asp375Asn)
|
rs200040980
|
0.00039
|
NM_000108.5(DLD):c.55C>G (p.Arg19Gly)
|
rs144038427
|
0.00039
|
NM_000158.4(GBE1):c.1237-15C>T
|
rs376809475
|
0.00039
|
NM_000642.3(AGL):c.2941A>G (p.Ile981Val)
|
rs148981763
|
0.00039
|
NM_001041.4(SI):c.4451G>A (p.Arg1484His)
|
rs145246112
|
0.00039
|
NM_001164277.2(SLC37A4):c.*298C>T
|
rs886047745
|
0.00039
|
NM_001164277.2(SLC37A4):c.100G>A (p.Val34Ile)
|
rs782644732
|
0.00039
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_002294.3(LAMP2):c.*4961A>G
|
rs765371462
|
0.00039
|
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val)
|
rs199608903
|
0.00039
|
NM_003041.4(SLC5A2):c.1275G>A (p.Val425=)
|
rs183103554
|
0.00039
|
NM_003041.4(SLC5A2):c.568G>A (p.Val190Met)
|
rs138803748
|
0.00039
|
NM_003477.3(PDHX):c.749C>T (p.Thr250Ile)
|
rs146876119
|
0.00039
|
NM_003619.4(PRSS12):c.1238A>G (p.Asp413Gly)
|
rs753349424
|
0.00039
|
NM_003619.4(PRSS12):c.37G>A (p.Gly13Arg)
|
rs140334007
|
0.00039
|
NM_005609.4(PYGM):c.61G>A (p.Gly21Ser)
|
rs145881639
|
0.00039
|
NM_012434.4(SLC17A5):c.-107C>A
|
rs867617433
|
0.00039
|
NM_016042.4(EXOSC3):c.*954G>A
|
rs530895640
|
0.00039
|
NM_175914.5(HNF4A):c.*2153T>C
|
rs760628227
|
0.00039
|
NM_000030.3(AGXT):c.165+40A>C
|
rs57017537
|
0.00038
|
NM_000152.5(GAA):c.2109C>T (p.Tyr703=)
|
rs150728610
|
0.00038
|
NM_000152.5(GAA):c.257C>G (p.Pro86Arg)
|
rs2229222
|
0.00038
|
NM_000152.5(GAA):c.752C>T (p.Ser251Leu)
|
rs200856561
|
0.00038
|
NM_000162.5(GCK):c.*764C>T
|
rs185418856
|
0.00038
|
NM_000263.3(NAGLU):c.-271A>G
|
rs369458319
|
0.00038
|
NM_000294.3(PHKG2):c.585G>A (p.Ala195=)
|
rs187710792
|
0.00038
|
NM_000352.6(ABCC8):c.486C>T (p.Ile162=)
|
rs149872185
|
0.00038
|
NM_000545.8(HNF1A):c.-5G>A
|
rs370979090
|
0.00038
|
NM_001014436.3(DBNL):c.*4668T>G
|
rs528717273
|
0.00038
|
NM_001041.4(SI):c.2789A>G (p.Gln930Arg)
|
rs150927256
|
0.00038
|
NM_001360016.2(G6PD):c.*281C>T
|
rs975719422
|
0.00038
|
NM_002500.5(NEUROD1):c.*1096T>C
|
rs188774781
|
0.00038
|
NM_003597.5(KLF11):c.-104C>T
|
rs886054718
|
0.00038
|
NM_005609.2(PYGM):c.-789T>C
|
rs143460923
|
0.00038
|
NM_006516.4(SLC2A1):c.*1337A>C
|
rs113441673
|
0.00038
|
NM_012203.2(GRHPR):c.666C>T (p.Thr222=)
|
rs146227450
|
0.00038
|
NM_012434.5(SLC17A5):c.*174G>C
|
rs575300701
|
0.00038
|
NM_016042.4(EXOSC3):c.*795A>G
|
rs558579097
|
0.00038
|
NM_016042.4(EXOSC3):c.52C>T (p.Arg18Cys)
|
rs147135294
|
0.00038
|
NM_016042.4(EXOSC3):c.53G>C (p.Arg18Pro)
|
rs145677716
|
0.00038
|
NM_152419.3(HGSNAT):c.1237C>T (p.Pro413Ser)
|
rs201346206
|
0.00038
|
NM_198586.3(NHLRC1):c.551A>G (p.Asn184Ser)
|
rs138667242
|
0.00038
|
NM_000027.4(AGA):c.885G>A (p.Lys295=)
|
rs34019119
|
0.00037
|
NM_000147.5(FUCA1):c.1274G>A (p.Gly425Glu)
|
rs150422575
|
0.00037
|
NM_000152.5(GAA):c.*64G>T
|
rs187532717
|
0.00037
|
NM_000154.2(GALK1):c.747G>A (p.Ala249=)
|
rs140053358
|
0.00037
|
NM_000545.8(HNF1A):c.1539C>T (p.Thr513=)
|
rs193922584
|
0.00037
|
NM_001039770.3(TMPPE):c.-500C>G
|
rs368944274
|
0.00037
|
NM_001040616.3(LINS1):c.1993G>A (p.Gly665Arg)
|
rs140140023
|
0.00037
|
NM_002294.3(LAMP2):c.*1632A>G
|
rs755434692
|
0.00037
|
NM_002300.7(LDHB):c.-102C>A
|
rs542962114
|
0.00037
|
NM_012434.5(SLC17A5):c.1177G>A (p.Val393Ile)
|
rs140060360
|
0.00037
|
NM_000030.3(AGXT):c.424-4T>C
|
rs369523966
|
0.00036
|
NM_000152.5(GAA):c.2652G>A (p.Thr884=)
|
rs143642048
|
0.00036
|
NM_000208.4(INSR):c.2388G>C (p.Arg796Ser)
|
rs78433961
|
0.00036
|
NM_000293.3(PHKB):c.1286G>A (p.Arg429Gln)
|
rs141379798
|
0.00036
|
NM_000298.6(PKLR):c.*582G>A
|
rs758139094
|
0.00036
|
NM_000340.2(SLC2A2):c.*153A>G
|
rs530625053
|
0.00036
|
NM_001164277.2(SLC37A4):c.1012T>C (p.Phe338Leu)
|
rs200662873
|
0.00036
|
NM_001352514.2(HLCS):c.1811G>A (p.Arg604His)
|
rs74574054
|
0.00036
|
NM_001543.5(NDST1):c.334C>T (p.Arg112Cys)
|
rs138962514
|
0.00036
|
NM_001739.2(CA5A):c.172G>A (p.Val58Met)
|
rs200539625
|
0.00036
|
NM_002103.5(GYS1):c.2014G>A (p.Gly672Ser)
|
rs145448665
|
0.00036
|
NM_002637.4(PHKA1):c.868C>T (p.Arg290Cys)
|
rs138752449
|
0.00036
|
NM_003477.3(PDHX):c.640G>C (p.Glu214Gln)
|
rs146445744
|
0.00036
|
NM_000158.4(GBE1):c.2056T>C (p.Tyr686His)
|
rs754607405
|
0.00035
|
NM_000199.5(SGSH):c.67C>T (p.Arg23Trp)
|
rs529571746
|
0.00035
|
NM_000293.3(PHKB):c.*279C>T
|
rs140112731
|
0.00035
|
NM_000340.2(SLC2A2):c.247G>A (p.Glu83Lys)
|
rs150851401
|
0.00035
|
NM_000545.8(HNF1A):c.1501+6C>T
|
rs374306837
|
0.00035
|
NM_002103.5(GYS1):c.213G>C (p.Gln71His)
|
rs200998100
|
0.00035
|
NM_002637.4(PHKA1):c.2179C>T (p.Arg727Trp)
|
rs151279562
|
0.00035
|
NM_002637.4(PHKA1):c.2756G>T (p.Arg919Leu)
|
rs1349683999
|
0.00035
|
NM_005327.7(HADH):c.349G>C (p.Val117Leu)
|
rs146732064
|
0.00035
|
NM_005609.4(PYGM):c.1925G>A (p.Arg642His)
|
rs150098198
|
0.00035
|
NM_024989.4(PGAP1):c.2375A>G (p.Asn792Ser)
|
rs36086547
|
0.00035
|
NM_138413.4(HOGA1):c.*289C>T
|
rs540860054
|
0.00035
|
NM_152419.3(HGSNAT):c.17G>A (p.Arg6Lys)
|
rs867446205
|
0.00035
|
NM_175914.5(HNF4A):c.826+30dup
|
rs193922478
|
0.00035
|
NM_000027.4(AGA):c.*317T>C
|
rs143028069
|
0.00034
|
NM_000027.4(AGA):c.792G>A (p.Met264Ile)
|
rs369967348
|
0.00034
|
NM_000151.4(G6PC1):c.*1981C>T
|
rs573802724
|
0.00034
|
NM_000151.4(G6PC1):c.*24A>C
|
rs377739870
|
0.00034
|
NM_000151.4(G6PC1):c.*556C>T
|
rs533491939
|
0.00034
|
NM_000199.5(SGSH):c.144G>A (p.Pro48=)
|
rs145970971
|
0.00034
|
NM_000262.3(NAGA):c.*155A>G
|
rs761125179
|
0.00034
|
NM_000290.4(PGAM2):c.501G>T (p.Trp167Cys)
|
rs150235677
|
0.00034
|
NM_000293.3(PHKB):c.3216G>A (p.Ala1072=)
|
rs137869198
|
0.00034
|
NM_000298.6(PKLR):c.111G>T (p.Gly37=)
|
rs141341788
|
0.00034
|
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg)
|
rs138555898
|
0.00034
|
NM_000525.4(KCNJ11):c.27C>T (p.Pro9=)
|
rs374134161
|
0.00034
|
NM_001041.4(SI):c.4099A>G (p.Arg1367Gly)
|
rs143388292
|
0.00034
|
NM_001160372.4(TRAPPC9):c.3055+11G>A
|
rs374709193
|
0.00034
|
NM_001160372.4(TRAPPC9):c.3356G>A (p.Arg1119Gln)
|
rs145503551
|
0.00034
|
NM_002299.4(LCT):c.3285C>T (p.His1095=)
|
rs372534937
|
0.00034
|
NM_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr)
|
rs144813238
|
0.00034
|
NM_005609.4(PYGM):c.1160G>A (p.Arg387His)
|
rs200357590
|
0.00034
|
NM_005609.4(PYGM):c.1859T>C (p.Ile620Thr)
|
rs142008108
|
0.00034
|
NM_005609.4(PYGM):c.761A>T (p.Asn254Ile)
|
rs149067043
|
0.00034
|
NM_006755.2(TALDO1):c.461+14C>T
|
rs373077928
|
0.00034
|
NM_017755.6(NSUN2):c.1602-14G>C
|
rs771558713
|
0.00034
|
NM_031229.4(RBCK1):c.550G>A (p.Gly184Arg)
|
rs147407444
|
0.00034
|
NM_138413.4(HOGA1):c.701-18G>C
|
rs201596675
|
0.00034
|
NM_000030.3(AGXT):c.165+44T>A
|
rs58120546
|
0.00033
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_000263.3(NAGLU):c.-275T>C
|
rs567758523
|
0.00033
|
NM_000284.4(PDHA1):c.*729G>A
|
rs376808450
|
0.00033
|
NM_002076.4(GNS):c.4C>T (p.Arg2Trp)
|
rs200441930
|
0.00033
|
NM_002500.5(NEUROD1):c.*283A>G
|
rs535699215
|
0.00033
|
NM_003597.5(KLF11):c.-146C>T
|
rs886054717
|
0.00033
|
NM_016042.4(EXOSC3):c.-11T>C
|
rs373191549
|
0.00033
|
NM_017755.6(NSUN2):c.*389A>G
|
rs780214753
|
0.00033
|
NM_152419.2(HGSNAT):c.-37C>T
|
rs886062951
|
0.00033
|
NM_152419.3(HGSNAT):c.*2591G>A
|
rs760484403
|
0.00033
|
NM_152419.3(HGSNAT):c.*3086C>T
|
rs531967582
|
0.00033
|
NM_175914.5(HNF4A):c.1176C>T (p.Asn392=)
|
rs141448616
|
0.00033
|
NM_000035.4(ALDOB):c.681C>T (p.Thr227=)
|
rs61757689
|
0.00032
|
NM_000199.5(SGSH):c.89-4G>A
|
rs375536965
|
0.00032
|
NM_000262.3(NAGA):c.*1555C>T
|
rs866446194
|
0.00032
|
NM_000263.4(NAGLU):c.170C>G (p.Ala57Gly)
|
rs181735466
|
0.00032
|
NM_000290.4(PGAM2):c.119G>A (p.Arg40Gln)
|
rs140545494
|
0.00032
|
NM_000294.3(PHKG2):c.21G>A (p.Pro7=)
|
rs200427925
|
0.00032
|
NM_001352514.2(HLCS):c.1621-12T>C
|
rs367728041
|
0.00032
|
NM_002076.4(GNS):c.*2301G>A
|
rs141182054
|
0.00032
|
NM_005609.4(PYGM):c.1885G>T (p.Asp629Tyr)
|
rs137986928
|
0.00032
|
NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln)
|
rs550455609
|
0.00032
|
NM_012434.5(SLC17A5):c.*550G>A
|
rs538417413
|
0.00032
|
NM_012434.5(SLC17A5):c.1295T>C (p.Phe432Ser)
|
rs200632199
|
0.00032
|
NM_152419.3(HGSNAT):c.*1251C>A
|
rs756060730
|
0.00032
|
NM_175914.5(HNF4A):c.*2992C>T
|
rs770250175
|
0.00032
|
NM_000289.5(PFKM):c.-174G>A
|
rs765876195
|
0.00031
|
NM_000294.3(PHKG2):c.*22C>T
|
rs372172604
|
0.00031
|
NM_000343.3(SLC5A1):c.-120C>T
|
rs886057399
|
0.00031
|
NM_000512.5(GALNS):c.*140C>A
|
rs557356503
|
0.00031
|
NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn)
|
rs200033151
|
0.00031
|
NM_000642.3(AGL):c.1333A>G (p.Met445Val)
|
rs140375476
|
0.00031
|
NM_001040716.2(PC):c.3198C>T (p.Ser1066=)
|
rs144087445
|
0.00031
|
NM_003041.4(SLC5A2):c.1433C>T (p.Pro478Leu)
|
rs373902181
|
0.00031
|
NM_003051.4(SLC16A1):c.441C>T (p.Asn147=)
|
rs150246870
|
0.00031
|
NM_003384.3(VRK1):c.901A>G (p.Lys301Glu)
|
rs149661915
|
0.00031
|
NM_012203.2(GRHPR):c.*24G>A
|
rs202111075
|
0.00031
|
NM_012434.5(SLC17A5):c.1059G>A (p.Arg353=)
|
rs149017456
|
0.00031
|
NM_016219.5(MAN1B1):c.26G>C (p.Ser9Thr)
|
rs140568381
|
0.00031
|
NM_021957.4(GYS2):c.1251C>T (p.Asn417=)
|
rs139882761
|
0.00031
|
NM_031229.4(RBCK1):c.703G>A (p.Glu235Lys)
|
rs201030033
|
0.00031
|
NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu)
|
rs143194967
|
0.00031
|
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=)
|
rs886062952
|
0.00031
|
NM_153747.2(PIGC):c.308T>C (p.Ile103Thr)
|
rs61747503
|
0.00031
|
NM_000199.5(SGSH):c.999C>T (p.Tyr333=)
|
rs149139346
|
0.00030
|
NM_000298.6(PKLR):c.1552C>T (p.Arg518Cys)
|
rs139002629
|
0.00030
|
NM_000308.4(CTSA):c.*266T>A
|
rs536094482
|
0.00030
|
NM_000512.5(GALNS):c.121-4G>A
|
rs200008960
|
0.00030
|
NM_000528.4(MAN2B1):c.1906C>T (p.Pro636Ser)
|
rs141276889
|
0.00030
|
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys)
|
rs142702682
|
0.00030
|
NM_001360016.2(G6PD):c.*548C>T
|
rs181015082
|
0.00030
|
NM_017721.5(CC2D1A):c.2707C>T (p.Arg903Trp)
|
rs376443152
|
0.00030
|
NM_138413.4(HOGA1):c.185A>T (p.His62Leu)
|
rs150812556
|
0.00030
|
NM_198586.3(NHLRC1):c.874A>T (p.Thr292Ser)
|
rs200214191
|
0.00030
|
NM_000027.4(AGA):c.979A>G (p.Ser327Gly)
|
rs369035792
|
0.00029
|
NM_000046.5(ARSB):c.*1610G>A
|
rs867100156
|
0.00029
|
NM_000046.5(ARSB):c.*166G>A
|
rs181321349
|
0.00029
|
NM_000108.5(DLD):c.763A>C (p.Met255Leu)
|
rs533405046
|
0.00029
|
NM_000147.4(FUCA1):c.-44G>A
|
rs139832548
|
0.00029
|
NM_000155.4(GALT):c.*8G>A
|
rs370285476
|
0.00029
|
NM_000158.4(GBE1):c.*466G>A
|
rs571158601
|
0.00029
|
NM_000158.4(GBE1):c.986A>G (p.Tyr329Cys)
|
rs80338671
|
0.00029
|
NM_000175.5(GPI):c.317G>A (p.Arg106Gln)
|
rs143827313
|
0.00029
|
NM_000199.5(SGSH):c.*501C>T
|
rs377165572
|
0.00029
|
NM_000199.5(SGSH):c.6C>T (p.Ser2=)
|
rs1043643087
|
0.00029
|
NM_000208.4(INSR):c.39G>C (p.Pro13=)
|
rs771984795
|
0.00029
|
NM_000262.3(NAGA):c.993G>T (p.Leu331=)
|
rs147853281
|
0.00029
|
NM_000263.4(NAGLU):c.1797C>G (p.Ala599=)
|
rs146715254
|
0.00029
|
NM_000293.3(PHKB):c.1364-10T>C
|
rs199899291
|
0.00029
|
NM_000293.3(PHKB):c.1631A>G (p.Asn544Ser)
|
rs139383341
|
0.00029
|
NM_000308.4(CTSA):c.1342G>A (p.Ala448Thr)
|
rs144407534
|
0.00029
|
NM_000458.4(HNF1B):c.*445A>G
|
rs571607314
|
0.00029
|
NM_000507.4(FBP1):c.102G>C (p.Leu34=)
|
rs143832764
|
0.00029
|
NM_000507.4(FBP1):c.495C>T (p.Tyr165=)
|
rs139264724
|
0.00029
|
NM_000525.4(KCNJ11):c.843C>T (p.Leu281=)
|
rs116392938
|
0.00029
|
NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu)
|
rs199967717
|
0.00029
|
NM_000642.3(AGL):c.4331A>G (p.Asn1444Ser)
|
rs143815159
|
0.00029
|
NM_000642.3(AGL):c.82+4A>C
|
rs765098686
|
0.00029
|
NM_001008216.2(GALE):c.369G>A (p.Gly123=)
|
rs138148991
|
0.00029
|
NM_001008216.2(GALE):c.997C>A (p.Leu333Ile)
|
rs199614710
|
0.00029
|
NM_001160372.4(TRAPPC9):c.2556+11A>G
|
rs201489589
|
0.00029
|
NM_001160372.4(TRAPPC9):c.2681G>A (p.Ser894Asn)
|
rs34181302
|
0.00029
|
NM_001352514.2(HLCS):c.*2771C>T
|
rs746169122
|
0.00029
|
NM_001352514.2(HLCS):c.*430T>C
|
rs186680398
|
0.00029
|
NM_002103.5(GYS1):c.1338C>T (p.His446=)
|
rs139974904
|
0.00029
|
NM_002591.4(PCK1):c.-40-14G>A
|
rs533125583
|
0.00029
|
NM_002863.5(PYGL):c.1757C>T (p.Thr586Met)
|
rs144989341
|
0.00029
|
NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser)
|
rs77373295
|
0.00029
|
NM_003597.5(KLF11):c.*2273C>T
|
rs534714754
|
0.00029
|
NM_005566.4(LDHA):c.8C>T (p.Thr3Ile)
|
rs200251957
|
0.00029
|
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg)
|
rs753397854
|
0.00029
|
NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp)
|
rs147428514
|
0.00029
|
NM_006755.2(TALDO1):c.*30C>T
|
rs200971004
|
0.00029
|
NM_014026.6(DCPS):c.550G>A (p.Ala184Thr)
|
rs147353126
|
0.00029
|
NM_016219.5(MAN1B1):c.1991C>T (p.Thr664Met)
|
rs200428790
|
0.00029
|
NM_021957.4(GYS2):c.1644C>T (p.Tyr548=)
|
rs146660038
|
0.00029
|
NM_175914.5(HNF4A):c.*764C>T
|
rs537782818
|
0.00029
|
NM_000027.4(AGA):c.*136T>C
|
rs184905324
|
0.00028
|
NM_000027.4(AGA):c.806+3A>G
|
rs368144874
|
0.00028
|
NM_000046.5(ARSB):c.*212A>G
|
rs561718720
|
0.00028
|
NM_000046.5(ARSB):c.*2559G>A
|
rs975658724
|
0.00028
|
NM_000293.3(PHKB):c.718G>A (p.Gly240Ser)
|
rs147426858
|
0.00028
|
NM_000352.6(ABCC8):c.1923+3G>A
|
rs374869130
|
0.00028
|
NM_000404.4(GLB1):c.1347+10G>A
|
rs199538100
|
0.00028
|
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp)
|
rs200679026
|
0.00028
|
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)
|
rs202039659
|
0.00028
|
NM_001041.4(SI):c.1919A>G (p.Glu640Gly)
|
rs142789249
|
0.00028
|
NM_001715.2(BLK):c.-209C>T
|
rs559867785
|
0.00028
|
NM_002076.4(GNS):c.1434C>G (p.Val478=)
|
rs141958901
|
0.00028
|
NM_002591.4(PCK1):c.*365G>A
|
rs886056802
|
0.00028
|
NM_012203.2(GRHPR):c.701T>C (p.Met234Thr)
|
rs143596402
|
0.00028
|
NM_012434.5(SLC17A5):c.1432G>A (p.Ala478Thr)
|
rs141341430
|
0.00028
|
NM_022895.3(C12orf43):c.*1917C>T
|
rs1039799815
|
0.00028
|
NM_000046.5(ARSB):c.*1951A>G
|
rs149854678
|
0.00027
|
NM_000158.4(GBE1):c.990C>T (p.Ser330=)
|
rs371194644
|
0.00027
|
NM_000512.5(GALNS):c.*29A>C
|
rs377151771
|
0.00027
|
NM_000642.3(AGL):c.4450G>A (p.Val1484Ile)
|
rs75076115
|
0.00027
|
NM_001040716.2(PC):c.*15G>A
|
rs45501894
|
0.00027
|
NM_002591.4(PCK1):c.954C>T (p.Asp318=)
|
rs147943264
|
0.00027
|
NM_002637.4(PHKA1):c.*1865G>T
|
rs782659275
|
0.00027
|
NM_002863.5(PYGL):c.1828-9T>A
|
rs372338710
|
0.00027
|
NM_006279.5(ST3GAL3):c.1079G>A (p.Arg360Gln)
|
rs553120567
|
0.00027
|
NM_006279.5(ST3GAL3):c.362G>A (p.Arg121Gln)
|
rs201287443
|
0.00027
|
NM_000151.4(G6PC1):c.*1970A>G
|
rs192778595
|
0.00026
|
NM_000152.5(GAA):c.*98A>T
|
rs886053548
|
0.00026
|
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg)
|
rs200294882
|
0.00026
|
NM_000152.5(GAA):c.2332-10C>G
|
rs373606162
|
0.00026
|
NM_000152.5(GAA):c.2736G>A (p.Ala912=)
|
rs142472738
|
0.00026
|
NM_000152.5(GAA):c.32G>A (p.Arg11Gln)
|
rs138812846
|
0.00026
|
NM_000154.2(GALK1):c.*85C>T
|
rs542735255
|
0.00026
|
NM_000154.2(GALK1):c.-22T>C
|
rs545362817
|
0.00026
|
NM_000203.5(IDUA):c.-71C>T
|
rs886059748
|
0.00026
|
NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp)
|
rs77938727
|
0.00026
|
NM_000298.6(PKLR):c.6G>A (p.Ser2=)
|
rs139697646
|
0.00026
|
NM_000343.4(SLC5A1):c.*707G>A
|
rs886057409
|
0.00026
|
NM_000352.6(ABCC8):c.3111C>T (p.Thr1037=)
|
rs201662945
|
0.00026
|
NM_000458.4(HNF1B):c.*629C>T
|
rs566057658
|
0.00026
|
NM_000507.4(FBP1):c.906C>T (p.Ala302=)
|
rs28369776
|
0.00026
|
NM_000512.5(GALNS):c.1482+4A>G
|
rs377407678
|
0.00026
|
NM_000525.4(KCNJ11):c.-154G>T
|
rs539975714
|
0.00026
|
NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=)
|
rs372896479
|
0.00026
|
NM_000642.3(AGL):c.854G>A (p.Arg285Gln)
|
rs144817648
|
0.00026
|
NM_000925.4(PDHB):c.97-5G>A
|
rs200429396
|
0.00026
|
NM_001040716.2(PC):c.-282G>A
|
rs886048558
|
0.00026
|
NM_001041.4(SI):c.322T>G (p.Phe108Val)
|
rs146006371
|
0.00026
|
NM_001041.4(SI):c.5367T>C (p.Tyr1789=)
|
rs144206255
|
0.00026
|
NM_001160372.4(TRAPPC9):c.1564G>A (p.Ala522Thr)
|
rs148453804
|
0.00026
|
NM_001352514.2(HLCS):c.*1084C>T
|
rs530869762
|
0.00026
|
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met)
|
rs142524025
|
0.00026
|
NM_001352514.2(HLCS):c.2465A>G (p.His822Arg)
|
rs148868421
|
0.00026
|
NM_002637.4(PHKA1):c.890T>C (p.Leu297Pro)
|
rs138195744
|
0.00026
|
NM_003597.5(KLF11):c.*216_*217insTT
|
rs1553314463
|
0.00026
|
NM_003619.4(PRSS12):c.2179A>G (p.Ile727Val)
|
rs146362932
|
0.00026
|
NM_005609.4(PYGM):c.1870G>A (p.Val624Ile)
|
rs143217651
|
0.00026
|
NM_005609.4(PYGM):c.2268C>T (p.Pro756=)
|
rs144229867
|
0.00026
|
NM_012203.2(GRHPR):c.468C>T (p.Val156=)
|
rs142509393
|
0.00026
|
NM_016219.5(MAN1B1):c.862G>A (p.Gly288Ser)
|
rs138090529
|
0.00026
|
NM_175914.5(HNF4A):c.*1395C>T
|
rs568456380
|
0.00026
|
NM_175914.5(HNF4A):c.*547G>A
|
rs1031904976
|
0.00026
|
NM_000108.5(DLD):c.*1736T>C
|
rs190655078
|
0.00025
|
NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)
|
rs202051939
|
0.00025
|
NM_000294.3(PHKG2):c.920G>A (p.Arg307Gln)
|
rs145390070
|
0.00025
|
NM_000343.4(SLC5A1):c.1280+8C>G
|
rs200130719
|
0.00025
|
NM_000404.4(GLB1):c.1530G>A (p.Thr510=)
|
rs191203702
|
0.00025
|
NM_000434.4(NEU1):c.-42T>C
|
rs373597058
|
0.00025
|
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)
|
rs112829030
|
0.00025
|
NM_001160372.4(TRAPPC9):c.1898C>T (p.Ala633Val)
|
rs375300224
|
0.00025
|
NM_001243177.4(ALDOA):c.679C>T (p.Arg227Cys)
|
rs374042346
|
0.00025
|
NM_001352514.2(HLCS):c.*2541C>T
|
rs184935954
|
0.00025
|
NM_001366110.1(PAX4):c.14-182G>A
|
rs886061971
|
0.00025
|
NM_002076.4(GNS):c.*676A>G
|
rs886049769
|
0.00025
|
NM_002299.4(LCT):c.840C>T (p.Asn280=)
|
rs150722551
|
0.00025
|
NM_002591.4(PCK1):c.*357A>G
|
rs8122025
|
0.00025
|
NM_003041.4(SLC5A2):c.1409T>C (p.Val470Ala)
|
rs139661242
|
0.00025
|
NM_005566.4(LDHA):c.*725T>G
|
rs753218262
|
0.00025
|
NM_005609.4(PYGM):c.612C>T (p.Tyr204=)
|
rs200467937
|
0.00025
|
NM_012434.5(SLC17A5):c.6G>A (p.Arg2=)
|
rs374582872
|
0.00025
|
NM_016203.4(PRKAG2):c.325T>G (p.Ser109Ala)
|
rs139579816
|
0.00025
|
NM_152419.3(HGSNAT):c.*2266G>T
|
rs75120048
|
0.00025
|
NM_000108.5(DLD):c.*845G>A
|
rs750426584
|
0.00024
|
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys)
|
rs144857480
|
0.00024
|
NM_000152.5(GAA):c.1552-14C>T
|
rs199715011
|
0.00024
|
NM_000152.5(GAA):c.2275G>A (p.Gly759Arg)
|
rs138183791
|
0.00024
|
NM_000152.5(GAA):c.922C>T (p.His308Tyr)
|
rs112025212
|
0.00024
|
NM_000154.2(GALK1):c.447G>A (p.Thr149=)
|
rs765744088
|
0.00024
|
NM_000203.5(IDUA):c.1765G>A (p.Gly589Ser)
|
rs144941693
|
0.00024
|
NM_000284.4(PDHA1):c.-79C>T
|
rs942040058
|
0.00024
|
NM_000293.3(PHKB):c.781T>G (p.Ser261Ala)
|
rs137946010
|
0.00024
|
NM_000293.3(PHKB):c.8G>C (p.Gly3Ala)
|
rs145047641
|
0.00024
|
NM_000294.3(PHKG2):c.360A>G (p.Thr120=)
|
rs149163610
|
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_000545.8(HNF1A):c.586A>G (p.Thr196Ala)
|
rs139712739
|
0.00024
|
NM_001008216.2(GALE):c.423C>T (p.Tyr141=)
|
rs138518245
|
0.00024
|
NM_001040716.2(PC):c.715A>G (p.Ile239Val)
|
rs148805312
|
0.00024
|
NM_001160372.4(TRAPPC9):c.140G>A (p.Arg47Gln)
|
rs147182402
|
0.00024
|
NM_001365304.2(LOC112694756):c.*1700C>T
|
rs886051897
|
0.00024
|
NM_002076.4(GNS):c.*1759A>G
|
rs540594590
|
0.00024
|
NM_002076.4(GNS):c.*2099G>A
|
rs553360517
|
0.00024
|
NM_002294.3(LAMP2):c.*5172A>G
|
rs778592348
|
0.00024
|
NM_002637.4(PHKA1):c.*887A>G
|
rs1473576299
|
0.00024
|
NM_002863.5(PYGL):c.1274G>A (p.Arg425His)
|
rs2228499
|
0.00024
|
NM_005271.5(GLUD1):c.*1419T>G
|
rs895697576
|
0.00024
|
NM_006721.4(ADK):c.429C>T (p.Cys143=)
|
rs142477111
|
0.00024
|
NM_012203.2(GRHPR):c.374G>A (p.Arg125Gln)
|
rs199560759
|
0.00024
|
NM_016219.5(MAN1B1):c.881C>T (p.Ala294Val)
|
rs144767615
|
0.00024
|
NM_017721.5(CC2D1A):c.2764C>T (p.Arg922Cys)
|
rs199893133
|
0.00024
|
NM_033159.4(HYAL1):c.*459G>A
|
rs150976767
|
0.00024
|
NM_000152.5(GAA):c.1310G>A (p.Arg437His)
|
rs150868652
|
0.00023
|
NM_000162.5(GCK):c.-102G>A
|
rs781377703
|
0.00023
|
NM_000199.5(SGSH):c.780C>T (p.Ala260=)
|
rs530964770
|
0.00023
|
NM_000284.4(PDHA1):c.894A>G (p.Gly298=)
|
rs1329322647
|
0.00023
|
NM_000290.4(PGAM2):c.288A>G (p.Thr96=)
|
rs139561812
|
0.00023
|
NM_000293.3(PHKB):c.2593C>G (p.Pro865Ala)
|
rs142281844
|
0.00023
|
NM_000404.4(GLB1):c.234C>T (p.Asn78=)
|
rs368796666
|
0.00023
|
NM_002103.5(GYS1):c.*229C>T
|
rs920764718
|
0.00023
|
NM_002103.5(GYS1):c.2043C>T (p.Ala681=)
|
rs142265031
|
0.00023
|
NM_002500.5(NEUROD1):c.750C>A (p.Ser250Arg)
|
rs201293992
|
0.00023
|
NM_003597.5(KLF11):c.1102C>T (p.Pro368Ser)
|
rs144897109
|
0.00023
|
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp)
|
rs946076987
|
0.00023
|
NM_017721.5(CC2D1A):c.2495C>G (p.Ala832Gly)
|
rs187418052
|
0.00023
|
NM_000030.3(AGXT):c.145A>C (p.Met49Leu)
|
rs74205173
|
0.00022
|
NM_000108.5(DLD):c.321A>G (p.Ala107=)
|
rs138398782
|
0.00022
|
NM_000147.5(FUCA1):c.260C>T (p.Pro87Leu)
|
rs138378067
|
0.00022
|
NM_000181.4(GUSB):c.1240C>T (p.Leu414=)
|
rs150686327
|
0.00022
|
NM_000199.5(SGSH):c.676G>A (p.Val226Ile)
|
rs145967352
|
0.00022
|
NM_000289.6(PFKM):c.*452T>C
|
rs563335260
|
0.00022
|
NM_000289.6(PFKM):c.2201A>G (p.His734Arg)
|
rs141570669
|
0.00022
|
NM_000294.3(PHKG2):c.127C>T (p.His43Tyr)
|
rs202177461
|
0.00022
|
NM_000298.6(PKLR):c.965+12G>A
|
rs200039500
|
0.00022
|
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)
|
rs139486832
|
0.00022
|
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val)
|
rs141193981
|
0.00022
|
NM_000642.3(AGL):c.1226T>G (p.Leu409Arg)
|
rs200459772
|
0.00022
|
NM_000891.3(KCNJ2):c.*3536C>T
|
rs529969829
|
0.00022
|
NM_000891.3(KCNJ2):c.*3618A>G
|
rs530574251
|
0.00022
|
NM_000891.3(KCNJ2):c.-228C>T
|
rs765064661
|
0.00022
|
NM_001366110.1(PAX4):c.260G>A (p.Arg87Gln)
|
rs115923648
|
0.00022
|
NM_001370658.1(BTD):c.-148C>T
|
rs774964227
|
0.00022
|
NM_001370658.1(BTD):c.1145A>G (p.Asn382Ser)
|
rs201023772
|
0.00022
|
NM_002103.5(GYS1):c.395A>G (p.Glu132Gly)
|
rs183816843
|
0.00022
|
NM_002300.8(LDHB):c.749A>G (p.Asn250Ser)
|
rs144739734
|
0.00022
|
NM_002500.5(NEUROD1):c.917C>T (p.Ala306Val)
|
rs115159138
|
0.00022
|
NM_002591.4(PCK1):c.898C>T (p.Leu300Phe)
|
rs61760967
|
0.00022
|
NM_003051.3(SLC16A1):c.-360G>A
|
rs758825428
|
0.00022
|
NM_003619.4(PRSS12):c.2488_2489del (p.Met830fs)
|
rs560855452
|
0.00022
|
NM_005271.5(GLUD1):c.*970A>G
|
rs760207211
|
0.00022
|
NM_005566.4(LDHA):c.*817A>C
|
rs527401531
|
0.00022
|
NM_005609.4(PYGM):c.2177+7G>A
|
rs201366697
|
0.00022
|
NM_006755.2(TALDO1):c.930C>T (p.Asp310=)
|
rs181385165
|
0.00022
|
NM_016042.4(EXOSC3):c.*847T>A
|
rs566642894
|
0.00022
|
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His)
|
rs148348866
|
0.00022
|
NM_017755.6(NSUN2):c.486A>G (p.Glu162=)
|
rs147958833
|
0.00022
|
NM_021957.4(GYS2):c.*237T>C
|
rs886049154
|
0.00022
|
NM_022895.3(C12orf43):c.*2791G>A
|
rs547080919
|
0.00022
|
NM_053013.4(ENO3):c.154G>A (p.Gly52Arg)
|
rs757769893
|
0.00022
|
NM_198586.3(NHLRC1):c.969C>T (p.Ser323=)
|
rs142941035
|
0.00022
|
NM_000035.4(ALDOB):c.334G>A (p.Gly112Arg)
|
rs373330514
|
0.00021
|
NM_000108.5(DLD):c.470C>G (p.Thr157Ser)
|
rs142232609
|
0.00021
|
NM_000151.4(G6PC1):c.909C>T (p.Leu303=)
|
rs368282218
|
0.00021
|
NM_000152.5(GAA):c.2152G>A (p.Val718Ile)
|
rs141017311
|
0.00021
|
NM_000152.5(GAA):c.2245G>T (p.Ala749Ser)
|
rs148311222
|
0.00021
|
NM_000152.5(GAA):c.2323C>A (p.Leu775Met)
|
rs147290429
|
0.00021
|
NM_000155.3(GALT):c.-121C>G
|
rs368046870
|
0.00021
|
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp)
|
rs76077021
|
0.00021
|
NM_000208.4(INSR):c.3193C>G (p.Leu1065Val)
|
rs56395521
|
0.00021
|
NM_000263.4(NAGLU):c.2043G>A (p.Ala681=)
|
rs115401566
|
0.00021
|
NM_000289.6(PFKM):c.820A>G (p.Ile274Val)
|
rs142868881
|
0.00021
|
NM_000298.6(PKLR):c.507G>A (p.Gly169=)
|
rs201674983
|
0.00021
|
NM_000340.2(SLC2A2):c.-48G>A
|
rs372965718
|
0.00021
|
NM_000343.4(SLC5A1):c.*2251G>A
|
rs569361272
|
0.00021
|
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=)
|
rs144249535
|
0.00021
|
NM_000512.5(GALNS):c.771C>T (p.Ala257=)
|
rs370586494
|
0.00021
|
NM_000528.4(MAN2B1):c.*41C>T
|
rs371716069
|
0.00021
|
NM_000642.3(AGL):c.622T>C (p.Trp208Arg)
|
rs202084554
|
0.00021
|
NM_001040716.2(PC):c.*373C>T
|
rs189863040
|
0.00021
|
NM_001040716.2(PC):c.1446C>T (p.Asp482=)
|
rs145891535
|
0.00021
|
NM_001739.2(CA5A):c.575C>T (p.Thr192Met)
|
rs145215237
|
0.00021
|
NM_002299.4(LCT):c.2898C>A (p.Leu966=)
|
rs143975097
|
0.00021
|
NM_002299.4(LCT):c.4776C>T (p.Gly1592=)
|
rs183168007
|
0.00021
|
NM_003051.4(SLC16A1):c.-201T>A
|
rs753315328
|
0.00021
|
NM_003051.4(SLC16A1):c.1367A>T (p.Glu456Val)
|
rs554138665
|
0.00021
|
NM_003477.3(PDHX):c.542+10T>C
|
rs368960575
|
0.00021
|
NM_003597.5(KLF11):c.*1155G>A
|
rs886054729
|
0.00021
|
NM_003597.5(KLF11):c.*654C>T
|
rs144723641
|
0.00021
|
NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys)
|
rs140692906
|
0.00021
|
NM_016042.4(EXOSC3):c.322C>T (p.Arg108Trp)
|
rs201178873
|
0.00021
|
NM_017755.6(NSUN2):c.1422G>A (p.Pro474=)
|
rs1055478673
|
0.00021
|
NM_018255.4(ELP2):c.1331T>C (p.Leu444Ser)
|
rs139040517
|
0.00021
|
NM_053013.4(ENO3):c.115G>A (p.Ala39Thr)
|
rs141103742
|
0.00021
|
NM_138413.4(HOGA1):c.299T>C (p.Met100Thr)
|
rs201630144
|
0.00021
|
NM_175914.5(HNF4A):c.427-4G>A
|
rs146751799
|
0.00021
|
NM_198586.3(NHLRC1):c.178C>T (p.His60Tyr)
|
rs539307365
|
0.00021
|
NM_198586.3(NHLRC1):c.990G>A (p.Gln330=)
|
rs148553723
|
0.00021
|
NM_000108.5(DLD):c.*1092C>T
|
rs546777301
|
0.00020
|
NM_000147.5(FUCA1):c.*270T>C
|
rs143441916
|
0.00020
|
NM_000199.5(SGSH):c.1076C>T (p.Ala359Val)
|
rs202150579
|
0.00020
|
NM_000203.5(IDUA):c.1002G>A (p.Leu334=)
|
rs370582480
|
0.00020
|
NM_000203.5(IDUA):c.1332C>T (p.Asp444=)
|
rs545473192
|
0.00020
|
NM_000289.6(PFKM):c.52A>G (p.Ile18Val)
|
rs150405056
|
0.00020
|
NM_000404.4(GLB1):c.1234-11T>A
|
rs145674318
|
0.00020
|
NM_000525.4(KCNJ11):c.568G>A (p.Ala190Thr)
|
rs77131926
|
0.00020
|
NM_000528.4(MAN2B1):c.34G>A (p.Ala12Thr)
|
rs747538432
|
0.00020
|
NM_000545.8(HNF1A):c.1108-4G>A
|
rs372892932
|
0.00020
|
NM_000642.3(AGL):c.1537A>T (p.Thr513Ser)
|
rs143987049
|
0.00020
|
NM_001041.4(SI):c.2828G>C (p.Cys943Ser)
|
rs375113759
|
0.00020
|
NM_002500.5(NEUROD1):c.*548T>A
|
rs886055324
|
0.00020
|
NM_002863.5(PYGL):c.691G>A (p.Val231Met)
|
rs148378112
|
0.00020
|
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys)
|
rs772731615
|
0.00020
|
NM_005327.7(HADH):c.*514A>G
|
rs183594888
|
0.00020
|
NM_006488.3(KHK):c.210-211C>T
|
rs141417422
|
0.00020
|
NM_013995.2(LAMP2):c.-136C>G
|
rs944875305
|
0.00020
|
NM_017755.6(NSUN2):c.*16C>T
|
rs368107079
|
0.00020
|
NM_020066.5(FMN2):c.2200C>T (p.Arg734Trp)
|
rs145706266
|
0.00020
|
NM_022895.3(C12orf43):c.*1796G>A
|
rs927067298
|
0.00020
|
NM_053013.4(ENO3):c.737T>C (p.Val246Ala)
|
rs200479387
|
0.00020
|
NM_198586.3(NHLRC1):c.*38G>T
|
rs377500729
|
0.00020
|
NM_000027.4(AGA):c.*219T>C
|
rs755458807
|
0.00019
|
NM_000027.4(AGA):c.286A>T (p.Thr96Ser)
|
rs184672077
|
0.00019
|
NM_000030.3(AGXT):c.489G>A (p.Leu163=)
|
rs147601535
|
0.00019
|
NM_000046.5(ARSB):c.*933C>T
|
rs924998163
|
0.00019
|
NM_000151.4(G6PC1):c.*17G>A
|
rs34537381
|
0.00019
|
NM_000151.4(G6PC1):c.81G>C (p.Gln27His)
|
rs371611000
|
0.00019
|
NM_000151.4(G6PC1):c.943C>G (p.Pro315Ala)
|
rs143321486
|
0.00019
|
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316
|
0.00019
|
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)
|
rs143347747
|
0.00019
|
NM_000152.5(GAA):c.250G>A (p.Val84Ile)
|
rs139595011
|
0.00019
|
NM_000152.5(GAA):c.693-4G>T
|
rs200088236
|
0.00019
|
NM_000152.5(GAA):c.913G>A (p.Gly305Arg)
|
rs200154987
|
0.00019
|
NM_000199.5(SGSH):c.*890G>A
|
rs111726823
|
0.00019
|
NM_000199.5(SGSH):c.570C>T (p.Tyr190=)
|
rs149951602
|
0.00019
|
NM_000207.3(INS):c.-153C>G
|
rs915076855
|
0.00019
|
NM_000293.3(PHKB):c.*132G>A
|
rs375856403
|
0.00019
|
NM_000293.3(PHKB):c.1204+9G>T
|
rs200832185
|
0.00019
|
NM_000293.3(PHKB):c.2629G>A (p.Gly877Arg)
|
rs150902092
|
0.00019
|
NM_000298.6(PKLR):c.*499G>A
|
rs777573500
|
0.00019
|
NM_000308.4(CTSA):c.1059G>A (p.Pro353=)
|
rs74694805
|
0.00019
|
NM_000308.4(CTSA):c.1088+3G>A
|
rs372830379
|
0.00019
|
NM_000343.4(SLC5A1):c.*1312A>G
|
rs768251081
|
0.00019
|
NM_000343.4(SLC5A1):c.*1995T>C
|
rs999440734
|
0.00019
|
NM_000343.4(SLC5A1):c.1066G>A (p.Gly356Ser)
|
rs141412905
|
0.00019
|
NM_000352.6(ABCC8):c.1644G>T (p.Thr548=)
|
rs565996783
|
0.00019
|
NM_000512.5(GALNS):c.*656T>C
|
rs763539126
|
0.00019
|
NM_000642.3(AGL):c.*2160C>T
|
rs753401733
|
0.00019
|
NM_001040716.2(PC):c.*353A>G
|
rs557595819
|
0.00019
|
NM_001040716.2(PC):c.1266C>T (p.Tyr422=)
|
rs141324828
|
0.00019
|
NM_001040716.2(PC):c.89G>A (p.Arg30Gln)
|
rs199616332
|
0.00019
|
NM_001041.4(SI):c.1285G>A (p.Ala429Thr)
|
rs556583179
|
0.00019
|
NM_001041.4(SI):c.1544G>T (p.Gly515Val)
|
rs144972103
|
0.00019
|
NM_001041.4(SI):c.4239C>T (p.Asp1413=)
|
rs138374817
|
0.00019
|
NM_001041.4(SI):c.556T>C (p.Ser186Pro)
|
rs142447888
|
0.00019
|
NM_001164277.2(SLC37A4):c.-670C>T
|
rs886047754
|
0.00019
|
NM_001164277.2(SLC37A4):c.857G>A (p.Arg286Gln)
|
rs548684318
|
0.00019
|
NM_001243177.4(ALDOA):c.1068C>T (p.Tyr356=)
|
rs200761497
|
0.00019
|
NM_001243177.4(ALDOA):c.668A>G (p.Asn223Ser)
|
rs142957871
|
0.00019
|
NM_001352514.2(HLCS):c.*1852G>T
|
rs551457805
|
0.00019
|
NM_002103.5(GYS1):c.1890G>A (p.Ala630=)
|
rs142457302
|
0.00019
|
NM_003597.5(KLF11):c.*1658G>A
|
rs367805998
|
0.00019
|
NM_003597.5(KLF11):c.*674G>C
|
rs574996537
|
0.00019
|
NM_003619.4(PRSS12):c.1490-15T>C
|
rs746343292
|
0.00019
|
NM_003619.4(PRSS12):c.2503G>A (p.Gly835Arg)
|
rs139833696
|
0.00019
|
NM_004830.4(MED23):c.235C>T (p.Leu79Phe)
|
rs151031376
|
0.00019
|
NM_006895.3(HNMT):c.325G>A (p.Glu109Lys)
|
rs528223406
|
0.00019
|
NM_017755.6(NSUN2):c.2188A>G (p.Asn730Asp)
|
rs140467698
|
0.00019
|
NM_020897.3(HCN3):c.*1243A>G
|
rs886045347
|
0.00019
|
NM_021956.5(GRIK2):c.922G>A (p.Asp308Asn)
|
rs767667188
|
0.00019
|
NM_021957.4(GYS2):c.*654G>A
|
rs770305709
|
0.00019
|
NM_024989.4(PGAP1):c.1953G>A (p.Gly651=)
|
rs148349860
|
0.00019
|
NM_024989.4(PGAP1):c.2642A>G (p.Lys881Arg)
|
rs375115788
|
0.00019
|
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp)
|
rs121918403
|
0.00019
|
NM_138413.4(HOGA1):c.554C>T (p.Thr185Met)
|
rs115282699
|
0.00019
|
NM_145262.4(GLYCTK):c.1460A>G (p.Asn487Ser)
|
rs767047161
|
0.00019
|
NM_152419.3(HGSNAT):c.*2538A>G
|
rs192349256
|
0.00019
|
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=)
|
rs147251143
|
0.00019
|
NM_153281.2(HYAL1):c.-395G>A
|
rs886058699
|
0.00019
|
NM_153281.2(HYAL1):c.-89G>A
|
rs141540659
|
0.00019
|
NM_175914.5(HNF4A):c.*3013A>G
|
rs773868595
|
0.00019
|
NM_175914.5(HNF4A):c.724G>A (p.Val242Met)
|
rs139779712
|
0.00019
|
NM_000046.5(ARSB):c.*1594C>A
|
rs188998831
|
0.00018
|
NM_000046.5(ARSB):c.*1729del
|
rs369595123
|
0.00018
|
NM_000152.5(GAA):c.*310C>T
|
rs550314730
|
0.00018
|
NM_000152.5(GAA):c.1232G>A (p.Arg411Gln)
|
rs372799904
|
0.00018
|
NM_000158.4(GBE1):c.313+15G>A
|
rs184391304
|
0.00018
|
NM_000175.5(GPI):c.1270-9G>A
|
rs191051353
|
0.00018
|
NM_000262.3(NAGA):c.697G>A (p.Val233Met)
|
rs201294991
|
0.00018
|
NM_000284.4(PDHA1):c.*1306G>A
|
rs745566169
|
0.00018
|
NM_000293.3(PHKB):c.*323G>C
|
rs886052024
|
0.00018
|
NM_000293.3(PHKB):c.1568T>C (p.Val523Ala)
|
rs774398701
|
0.00018
|
NM_000294.3(PHKG2):c.921G>T (p.Arg307=)
|
rs201113602
|
0.00018
|
NM_000434.4(NEU1):c.*524C>T
|
rs886061286
|
0.00018
|
NM_000512.5(GALNS):c.1078G>A (p.Asp360Asn)
|
rs202031547
|
0.00018
|
NM_000525.4(KCNJ11):c.354G>A (p.Ser118=)
|
rs140636367
|
0.00018
|
NM_000545.8(HNF1A):c.524A>G (p.Gln175Arg)
|
rs147400498
|
0.00018
|
NM_001041.4(SI):c.3854T>C (p.Ile1285Thr)
|
rs375443860
|
0.00018
|
NM_001041.4(SI):c.3914C>T (p.Thr1305Ile)
|
rs371426683
|
0.00018
|
NM_001352514.2(HLCS):c.*3156A>G
|
rs886738924
|
0.00018
|
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln)
|
rs147474255
|
0.00018
|
NM_001739.2(CA5A):c.433G>A (p.Val145Met)
|
rs138476706
|
0.00018
|
NM_002500.5(NEUROD1):c.*454C>T
|
rs923588837
|
0.00018
|
NM_002500.5(NEUROD1):c.1031G>A (p.Arg344Gln)
|
rs146389992
|
0.00018
|
NM_003619.4(PRSS12):c.1277G>A (p.Arg426Gln)
|
rs138640682
|
0.00018
|
NM_005609.4(PYGM):c.208C>T (p.Arg70Cys)
|
rs765844107
|
0.00018
|
NM_005908.4(MANBA):c.2633T>C (p.Ile878Thr)
|
rs145756079
|
0.00018
|
NM_006488.3(KHK):c.*326G>A
|
rs148558475
|
0.00018
|
NM_006755.2(TALDO1):c.476A>G (p.Gln159Arg)
|
rs147961544
|
0.00018
|
NM_012203.2(GRHPR):c.955G>T (p.Gly319Trp)
|
rs142835989
|
0.00018
|
NM_031229.4(RBCK1):c.-9C>A
|
rs140276089
|
0.00018
|
NM_152419.3(HGSNAT):c.493C>T (p.Pro165Ser)
|
rs371273730
|
0.00018
|
NM_000152.5(GAA):c.131G>T (p.Gly44Val)
|
rs550609502
|
0.00017
|
NM_000152.5(GAA):c.1320G>T (p.Met440Ile)
|
rs550837627
|
0.00017
|
NM_000152.5(GAA):c.2561G>A (p.Arg854Gln)
|
rs149968110
|
0.00017
|
NM_000158.4(GBE1):c.278C>T (p.Pro93Leu)
|
rs200746350
|
0.00017
|
NM_000203.5(IDUA):c.1757C>T (p.Ser586Phe)
|
rs187833337
|
0.00017
|
NM_000203.5(IDUA):c.630C>T (p.Arg210=)
|
rs376012666
|
0.00017
|
NM_000262.3(NAGA):c.493C>T (p.Arg165Trp)
|
rs200080569
|
0.00017
|
NM_000263.4(NAGLU):c.1464G>A (p.Pro488=)
|
rs140956564
|
0.00017
|
NM_000263.4(NAGLU):c.1880C>T (p.Ala627Val)
|
rs140905880
|
0.00017
|
NM_000263.4(NAGLU):c.683G>A (p.Arg228Gln)
|
rs146456266
|
0.00017
|
NM_000293.3(PHKB):c.2540C>T (p.Ala847Val)
|
rs374731360
|
0.00017
|
NM_000294.3(PHKG2):c.224G>A (p.Arg75Gln)
|
rs538127151
|
0.00017
|
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=)
|
rs186634115
|
0.00017
|
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)
|
rs144067930
|
0.00017
|
NM_000528.4(MAN2B1):c.2268-11C>T
|
rs537217370
|
0.00017
|
NM_000545.8(HNF1A):c.1756G>A (p.Ala586Thr)
|
rs373857078
|
0.00017
|
NM_000545.8(HNF1A):c.693G>A (p.Thr231=)
|
rs145240086
|
0.00017
|
NM_000642.3(AGL):c.3884G>A (p.Arg1295His)
|
rs140481863
|
0.00017
|
NM_001008216.2(GALE):c.447C>G (p.Pro149=)
|
rs571625657
|
0.00017
|
NM_001360016.2(G6PD):c.*365G>A
|
rs1034742794
|
0.00017
|
NM_001370658.1(BTD):c.1310T>C (p.Val437Ala)
|
rs149690919
|
0.00017
|
NM_001715.3(BLK):c.*209C>G
|
rs544690947
|
0.00017
|
NM_002591.4(PCK1):c.414C>A (p.Thr138=)
|
rs143220447
|
0.00017
|
NM_003041.4(SLC5A2):c.1645G>A (p.Ala549Thr)
|
rs140508520
|
0.00017
|
NM_003477.3(PDHX):c.1129A>G (p.Ile377Val)
|
rs75430333
|
0.00017
|
NM_003619.4(PRSS12):c.*1141T>C
|
rs574310044
|
0.00017
|
NM_005327.7(HADH):c.809C>T (p.Thr270Met)
|
rs577954688
|
0.00017
|
NM_005908.4(MANBA):c.1682C>T (p.Pro561Leu)
|
rs147023714
|
0.00017
|
NM_005908.4(MANBA):c.2416-3C>T
|
rs375466384
|
0.00017
|
NM_006488.3(KHK):c.48C>T (p.Val16=)
|
rs200769127
|
0.00017
|
NM_138413.4(HOGA1):c.106G>A (p.Ala36Thr)
|
rs573292460
|
0.00017
|
NM_152419.3(HGSNAT):c.1488C>T (p.Tyr496=)
|
rs371042202
|
0.00017
|
NM_152419.3(HGSNAT):c.812G>A (p.Ser271Asn)
|
rs554146681
|
0.00017
|
NM_000030.3(AGXT):c.524+6C>A
|
rs770992934
|
0.00016
|
NM_000035.4(ALDOB):c.*286C>T
|
rs886063291
|
0.00016
|
NM_000046.5(ARSB):c.-15C>T
|
rs779990830
|
0.00016
|
NM_000046.5(ARSB):c.1159C>T (p.Pro387Ser)
|
rs145553034
|
0.00016
|
NM_000046.5(ARSB):c.1546G>A (p.Ala516Thr)
|
rs201234153
|
0.00016
|
NM_000046.5(ARSB):c.312+4C>T
|
rs770927433
|
0.00016
|
NM_000108.5(DLD):c.860G>A (p.Gly287Glu)
|
rs202125745
|
0.00016
|
NM_000181.4(GUSB):c.1291G>A (p.Glu431Lys)
|
rs143040697
|
0.00016
|
NM_000181.4(GUSB):c.695C>G (p.Thr232Ser)
|
rs138618819
|
0.00016
|
NM_000203.5(IDUA):c.1191T>G (p.Asp397Glu)
|
rs1462850727
|
0.00016
|
NM_000203.5(IDUA):c.1863A>C (p.Arg621=)
|
rs762586
|
0.00016
|
NM_000203.5(IDUA):c.365G>A (p.Arg122Lys)
|
rs200237798
|
0.00016
|
NM_000203.5(IDUA):c.663C>G (p.Pro221=)
|
rs368553582
|
0.00016
|
NM_000263.4(NAGLU):c.1662C>T (p.Pro554=)
|
rs368521316
|
0.00016
|
NM_000263.4(NAGLU):c.348C>T (p.Ala116=)
|
rs559674042
|
0.00016
|
NM_000263.4(NAGLU):c.678+4A>G
|
rs368199655
|
0.00016
|
NM_000284.4(PDHA1):c.*1458C>T
|
rs923765752
|
0.00016
|
NM_000308.3(CTSA):c.-52G>A
|
rs373024722
|
0.00016
|
NM_000308.4(CTSA):c.*50C>T
|
rs370691011
|
0.00016
|
NM_000308.4(CTSA):c.160C>T (p.Leu54Phe)
|
rs138615064
|
0.00016
|
NM_000343.4(SLC5A1):c.70C>T (p.Arg24Cys)
|
rs201800716
|
0.00016
|
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_000402.4(G6PD):c.556G>A (p.Glu186Lys)
|
rs137852313
|
0.00016
|
NM_000434.4(NEU1):c.*454A>G
|
rs886061287
|
0.00016
|
NM_000525.4(KCNJ11):c.*546G>A
|
rs886048037
|
0.00016
|
NM_000528.4(MAN2B1):c.1209C>A (p.Arg403=)
|
rs559827776
|
0.00016
|
NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser)
|
rs753397171
|
0.00016
|
NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)
|
rs148945108
|
0.00016
|
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)
|
rs587778397
|
0.00016
|
NM_000642.3(AGL):c.1895T>C (p.Ile632Thr)
|
rs138823746
|
0.00016
|
NM_000642.3(AGL):c.4052A>G (p.Lys1351Arg)
|
rs41285740
|
0.00016
|
NM_000642.3(AGL):c.4575T>A (p.Ile1525=)
|
rs372116308
|
0.00016
|
NM_001014436.3(DBNL):c.*1813T>C
|
rs374509693
|
0.00016
|
NM_001014436.3(DBNL):c.*4645dup
|
rs554686318
|
0.00016
|
NM_001040616.3(LINS1):c.725C>G (p.Thr242Ser)
|
rs149958643
|
0.00016
|
NM_001040716.2(PC):c.2804C>T (p.Ala935Val)
|
rs139540331
|
0.00016
|
NM_001243177.4(ALDOA):c.898C>T (p.His300Tyr)
|
rs144693278
|
0.00016
|
NM_001352514.2(HLCS):c.*2069T>C
|
rs540511044
|
0.00016
|
NM_001360016.2(G6PD):c.1152G>C (p.Gln384His)
|
rs368832453
|
0.00016
|
NM_001931.5(DLAT):c.572C>T (p.Ala191Val)
|
rs200500508
|
0.00016
|
NM_002076.4(GNS):c.5G>C (p.Arg2Pro)
|
rs759075764
|
0.00016
|
NM_002863.5(PYGL):c.1582G>A (p.Asp528Asn)
|
rs138461745
|
0.00016
|
NM_003597.5(KLF11):c.*956C>T
|
rs149067484
|
0.00016
|
NM_003597.5(KLF11):c.992G>T (p.Gly331Val)
|
rs151317435
|
0.00016
|
NM_004130.4(GYG1):c.601T>G (p.Phe201Val)
|
rs142318183
|
0.00016
|
NM_005271.5(GLUD1):c.1402+10G>A
|
rs202067232
|
0.00016
|
NM_005566.4(LDHA):c.*129A>G
|
rs199722017
|
0.00016
|
NM_005609.3(PYGM):c.-146C>A
|
rs764403406
|
0.00016
|
NM_005609.4(PYGM):c.2078T>C (p.Met693Thr)
|
rs200688234
|
0.00016
|
NM_005609.4(PYGM):c.2290A>G (p.Asn764Asp)
|
rs190548494
|
0.00016
|
NM_005609.4(PYGM):c.951C>T (p.Phe317=)
|
rs71581789
|
0.00016
|
NM_006516.4(SLC2A1):c.972+7del
|
rs531385270
|
0.00016
|
NM_006721.4(ADK):c.*349T>C
|
rs896781492
|
0.00016
|
NM_006755.2(TALDO1):c.197T>C (p.Ile66Thr)
|
rs146282855
|
0.00016
|
NM_006755.2(TALDO1):c.982G>A (p.Glu328Lys)
|
rs369679261
|
0.00016
|
NM_006765.4(TUSC3):c.19C>T (p.Pro7Ser)
|
rs201741917
|
0.00016
|
NM_006859.4(LIAS):c.173C>T (p.Thr58Ile)
|
rs141723499
|
0.00016
|
NM_006859.4(LIAS):c.393+4G>A
|
rs368453789
|
0.00016
|
NM_014415.4(ZBTB11):c.709G>A (p.Glu237Lys)
|
rs199936012
|
0.00016
|
NM_014806.5(RUSC2):c.4078C>T (p.Arg1360Trp)
|
rs200798902
|
0.00016
|
NM_016219.5(MAN1B1):c.*553A>G
|
rs754678273
|
0.00016
|
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=)
|
rs150942110
|
0.00016
|
NM_016219.5(MAN1B1):c.514C>T (p.Pro172Ser)
|
rs142144025
|
0.00016
|
NM_017721.5(CC2D1A):c.997G>A (p.Ala333Thr)
|
rs201374643
|
0.00016
|
NM_021957.4(GYS2):c.*359C>T
|
rs542459418
|
0.00016
|
NM_021957.4(GYS2):c.1713C>T (p.Leu571=)
|
rs139122418
|
0.00016
|
NM_053013.4(ENO3):c.249C>T (p.Ser83=)
|
rs145859308
|
0.00016
|
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val)
|
rs201803986
|
0.00016
|
NM_152419.3(HGSNAT):c.145C>A (p.Leu49Met)
|
rs372961495
|
0.00016
|
NM_152419.3(HGSNAT):c.205G>A (p.Val69Ile)
|
rs202001245
|
0.00016
|
NM_175914.5(HNF4A):c.*1087G>C
|
rs540463510
|
0.00016
|
NM_175914.5(HNF4A):c.*2193T>C
|
rs148871044
|
0.00016
|
NM_175914.5(HNF4A):c.50-4753G>A
|
rs566155738
|
0.00016
|
NM_175914.5(HNF4A):c.582+12C>T
|
rs372596032
|
0.00016
|
NM_000152.5(GAA):c.1332T>C (p.Pro444=)
|
rs200007324
|
0.00015
|
NM_000181.4(GUSB):c.13T>C (p.Ser5Pro)
|
rs190496263
|
0.00015
|
NM_000181.4(GUSB):c.157G>A (p.Asp53Asn)
|
rs371314015
|
0.00015
|
NM_000199.5(SGSH):c.276C>G (p.His92Gln)
|
rs201478799
|
0.00015
|
NM_000203.5(IDUA):c.406G>A (p.Ala136Thr)
|
rs112571714
|
0.00015
|
NM_000263.4(NAGLU):c.1467C>T (p.Asp489=)
|
rs115550028
|
0.00015
|
NM_000263.4(NAGLU):c.1495C>T (p.Arg499Trp)
|
rs200981229
|
0.00015
|
NM_000263.4(NAGLU):c.510C>T (p.Gly170=)
|
rs375661192
|
0.00015
|
NM_000291.4(PGK1):c.761G>C (p.Gly254Ala)
|
rs148399096
|
0.00015
|
NM_000404.4(GLB1):c.1095C>T (p.Ile365=)
|
rs200762972
|
0.00015
|
NM_000404.4(GLB1):c.1479+11C>T
|
rs369789589
|
0.00015
|
NM_000458.4(HNF1B):c.73G>T (p.Val25Leu)
|
rs139107479
|
0.00015
|
NM_000545.8(HNF1A):c.-258A>G
|
rs756136537
|
0.00015
|
NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys)
|
rs375330016
|
0.00015
|
NM_001040716.2(PC):c.786G>T (p.Glu262Asp)
|
rs200030109
|
0.00015
|
NM_001160372.4(TRAPPC9):c.3136C>T (p.Arg1046Trp)
|
rs376617920
|
0.00015
|
NM_001370658.1(BTD):c.-105C>T
|
rs184480128
|
0.00015
|
NM_001715.3(BLK):c.-203C>T
|
rs886062592
|
0.00015
|
NM_001715.3(BLK):c.1351G>A (p.Gly451Ser)
|
rs199605698
|
0.00015
|
NM_002103.5(GYS1):c.*370A>C
|
rs185366453
|
0.00015
|
NM_002103.5(GYS1):c.722G>A (p.Arg241Gln)
|
rs192597341
|
0.00015
|
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp)
|
rs730880478
|
0.00015
|
NM_002299.4(LCT):c.4362T>G (p.Ser1454=)
|
rs776712928
|
0.00015
|
NM_002591.4(PCK1):c.577C>T (p.Leu193Phe)
|
rs139125510
|
0.00015
|
NM_002637.4(PHKA1):c.3443T>G (p.Ile1148Ser)
|
rs782365144
|
0.00015
|
NM_003597.5(KLF11):c.-108G>A
|
rs868540286
|
0.00015
|
NM_003597.5(KLF11):c.437C>T (p.Ala146Val)
|
rs148968483
|
0.00015
|
NM_003619.4(PRSS12):c.*233G>C
|
rs886059032
|
0.00015
|
NM_005271.5(GLUD1):c.1403-11T>C
|
rs886047374
|
0.00015
|
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser)
|
rs141919651
|
0.00015
|
NM_138413.4(HOGA1):c.771C>T (p.Cys257=)
|
rs550989147
|
0.00015
|
NM_000027.4(AGA):c.793C>T (p.Arg265Cys)
|
rs146710132
|
0.00014
|
NM_000027.4(AGA):c.941-5C>T
|
rs377622082
|
0.00014
|
NM_000108.5(DLD):c.*739G>A
|
rs181103944
|
0.00014
|
NM_000108.5(DLD):c.74A>C (p.Gln25Pro)
|
rs61749951
|
0.00014
|
NM_000147.5(FUCA1):c.405G>A (p.Thr135=)
|
rs145153173
|
0.00014
|
NM_000151.4(G6PC1):c.*2133C>T
|
rs183542930
|
0.00014
|
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile)
|
rs145172999
|
0.00014
|
NM_000151.4(G6PC1):c.992C>T (p.Ala331Val)
|
rs149486847
|
0.00014
|
NM_000152.5(GAA):c.1888+5G>T
|
rs528282884
|
0.00014
|
NM_000155.4(GALT):c.1132A>G (p.Ile378Val)
|
rs111033819
|
0.00014
|
NM_000155.4(GALT):c.688-4C>T
|
rs374014228
|
0.00014
|
NM_000158.4(GBE1):c.1803G>A (p.Gln601=)
|
rs368793136
|
0.00014
|
NM_000158.4(GBE1):c.429+5T>G
|
rs373240805
|
0.00014
|
NM_000158.4(GBE1):c.45G>A (p.Glu15=)
|
rs370326965
|
0.00014
|
NM_000162.5(GCK):c.213C>T (p.Val71=)
|
rs143128547
|
0.00014
|
NM_000199.4(SGSH):c.-23C>T
|
rs533566888
|
0.00014
|
NM_000262.3(NAGA):c.*572G>A
|
rs538578699
|
0.00014
|
NM_000293.3(PHKB):c.*991A>G
|
rs951718946
|
0.00014
|
NM_000343.4(SLC5A1):c.1809G>A (p.Arg603=)
|
rs200228396
|
0.00014
|
NM_000343.4(SLC5A1):c.36G>A (p.Ala12=)
|
rs148720069
|
0.00014
|
NM_000352.6(ABCC8):c.823-8C>T
|
rs201000679
|
0.00014
|
NM_000404.4(GLB1):c.40G>C (p.Val14Leu)
|
rs376500233
|
0.00014
|
NM_000512.5(GALNS):c.*287T>C
|
rs776880179
|
0.00014
|
NM_000525.4(KCNJ11):c.*697G>A
|
rs117976105
|
0.00014
|
NM_000528.4(MAN2B1):c.1961A>G (p.Asp654Gly)
|
rs191035238
|
0.00014
|
NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys)
|
rs139366493
|
0.00014
|
NM_000528.4(MAN2B1):c.630+6A>T
|
rs372899975
|
0.00014
|
NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)
|
rs766383135
|
0.00014
|
NM_000528.4(MAN2B1):c.718C>T (p.Arg240Trp)
|
rs201448121
|
0.00014
|
NM_000642.3(AGL):c.1261A>G (p.Arg421Gly)
|
rs150637770
|
0.00014
|
NM_000642.3(AGL):c.1846A>G (p.Ile616Val)
|
rs371115206
|
0.00014
|
NM_000642.3(AGL):c.2248G>T (p.Ala750Ser)
|
rs139950099
|
0.00014
|
NM_000642.3(AGL):c.2657C>T (p.Pro886Leu)
|
rs149331873
|
0.00014
|
NM_000642.3(AGL):c.4076G>A (p.Arg1359His)
|
rs201533636
|
0.00014
|
NM_000642.3(AGL):c.846+14G>A
|
rs376827010
|
0.00014
|
NM_000891.3(KCNJ2):c.*1128dup
|
rs777658732
|
0.00014
|
NM_000891.3(KCNJ2):c.*213G>A
|
rs886053326
|
0.00014
|
NM_000891.3(KCNJ2):c.*879C>T
|
rs969533203
|
0.00014
|
NM_001008216.2(GALE):c.376A>G (p.Asn126Asp)
|
rs771656737
|
0.00014
|
NM_001040616.3(LINS1):c.1013C>T (p.Ala338Val)
|
rs763210104
|
0.00014
|
NM_001040716.2(PC):c.190G>A (p.Val64Ile)
|
rs35698729
|
0.00014
|
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val)
|
rs148492494
|
0.00014
|
NM_001041.4(SI):c.2150T>A (p.Val717Asp)
|
rs188320908
|
0.00014
|
NM_001041.4(SI):c.325G>A (p.Val109Ile)
|
rs149498200
|
0.00014
|
NM_001041.4(SI):c.3424-12T>C
|
rs77749967
|
0.00014
|
NM_001041.4(SI):c.4950C>T (p.Tyr1650=)
|
rs370336977
|
0.00014
|
NM_001041.4(SI):c.639T>C (p.Phe213=)
|
rs368517998
|
0.00014
|
NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser)
|
rs200963473
|
0.00014
|
NM_001352514.2(HLCS):c.*1273T>A
|
rs565500474
|
0.00014
|
NM_001352514.2(HLCS):c.1843G>C (p.Val615Leu)
|
rs376210604
|
0.00014
|
NM_001352514.2(HLCS):c.294A>C (p.Gln98His)
|
rs751729789
|
0.00014
|
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr)
|
rs181396238
|
0.00014
|
NM_001739.2(CA5A):c.615T>A (p.His205Gln)
|
rs139816901
|
0.00014
|
NM_001931.5(DLAT):c.1406A>G (p.Glu469Gly)
|
rs376141049
|
0.00014
|
NM_002103.5(GYS1):c.1390G>A (p.Gly464Ser)
|
rs200862074
|
0.00014
|
NM_002103.5(GYS1):c.254C>T (p.Pro85Leu)
|
rs140774115
|
0.00014
|
NM_003041.4(SLC5A2):c.1450-14T>C
|
rs374122696
|
0.00014
|
NM_003619.4(PRSS12):c.*1143C>T
|
rs987189753
|
0.00014
|
NM_003619.4(PRSS12):c.*221A>T
|
rs774121509
|
0.00014
|
NM_005536.4(IMPA1):c.379G>C (p.Glu127Gln)
|
rs376742471
|
0.00014
|
NM_005908.4(MANBA):c.1499G>A (p.Arg500His)
|
rs147542645
|
0.00014
|
NM_005908.4(MANBA):c.1912C>T (p.Arg638Cys)
|
rs746340334
|
0.00014
|
NM_012203.2(GRHPR):c.336C>T (p.Ala112=)
|
rs148778319
|
0.00014
|
NM_012434.5(SLC17A5):c.1365A>G (p.Glu455=)
|
rs192599733
|
0.00014
|
NM_016219.5(MAN1B1):c.1742G>A (p.Gly581Asp)
|
rs376968555
|
0.00014
|
NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His)
|
rs374247020
|
0.00014
|
NM_017755.6(NSUN2):c.*140T>C
|
rs564014439
|
0.00014
|
NM_020897.3(HCN3):c.*1374T>C
|
rs180944719
|
0.00014
|
NM_021957.4(GYS2):c.1924G>A (p.Val642Ile)
|
rs367881123
|
0.00014
|
NM_022895.3(C12orf43):c.*2097G>A
|
rs750496742
|
0.00014
|
NM_031229.4(RBCK1):c.1336C>T (p.Arg446Cys)
|
rs372540581
|
0.00014
|
NM_138413.4(HOGA1):c.*593G>A
|
rs564823369
|
0.00014
|
NM_152419.3(HGSNAT):c.*2472G>C
|
rs773357212
|
0.00014
|
NM_152419.3(HGSNAT):c.*2502A>G
|
rs763278248
|
0.00014
|
NM_175914.5(HNF4A):c.*1364G>A
|
rs187923731
|
0.00014
|
NM_175914.5(HNF4A):c.*3068C>T
|
rs753843962
|
0.00014
|
NM_198586.3(NHLRC1):c.*837G>A
|
rs536257194
|
0.00014
|
NM_000035.4(ALDOB):c.*898T>C
|
rs886063287
|
0.00013
|
NM_000035.4(ALDOB):c.442T>C (p.Trp148Arg)
|
rs118204430
|
0.00013
|
NM_000035.4(ALDOB):c.911G>A (p.Arg304Gln)
|
rs145078268
|
0.00013
|
NM_000046.5(ARSB):c.*2571A>G
|
rs963944156
|
0.00013
|
NM_000046.5(ARSB):c.1533C>T (p.Pro511=)
|
rs528157833
|
0.00013
|
NM_000046.5(ARSB):c.647C>T (p.Thr216Ile)
|
rs200364654
|
0.00013
|
NM_000108.5(DLD):c.-8G>T
|
rs372155330
|
0.00013
|
NM_000152.5(GAA):c.2381G>A (p.Arg794His)
|
rs200505871
|
0.00013
|
NM_000152.5(GAA):c.546+3G>A
|
rs371405931
|
0.00013
|
NM_000155.4(GALT):c.507+12C>T
|
rs199572263
|
0.00013
|
NM_000199.5(SGSH):c.19G>A (p.Ala7Thr)
|
rs548145029
|
0.00013
|
NM_000203.5(IDUA):c.1861C>G (p.Arg621Gly)
|
rs121965025
|
0.00013
|
NM_000209.4(PDX1):c.296C>A (p.Pro99His)
|
rs764870332
|
0.00013
|
NM_000293.3(PHKB):c.2197-10A>T
|
rs750018974
|
0.00013
|
NM_000293.3(PHKB):c.430C>T (p.Arg144Cys)
|
rs762531075
|
0.00013
|
NM_000298.6(PKLR):c.1468C>T (p.Arg490Trp)
|
rs200133000
|
0.00013
|
NM_000308.4(CTSA):c.365A>G (p.Asn122Ser)
|
rs199735882
|
0.00013
|
NM_000343.4(SLC5A1):c.101T>C (p.Ile34Thr)
|
rs139760182
|
0.00013
|
NM_000343.4(SLC5A1):c.1763T>C (p.Ile588Thr)
|
rs201862174
|
0.00013
|
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_000365.6(TPI1):c.543+6C>T
|
rs369693539
|
0.00013
|
NM_000458.4(HNF1B):c.-82G>T
|
rs886052892
|
0.00013
|
NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu)
|
rs766513928
|
0.00013
|
NM_000528.4(MAN2B1):c.2104C>T (p.Arg702Cys)
|
rs988974694
|
0.00013
|
NM_000528.4(MAN2B1):c.28G>A (p.Val10Ile)
|
rs558131886
|
0.00013
|
NM_000891.3(KCNJ2):c.*2887T>G
|
rs770284843
|
0.00013
|
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu)
|
rs373799322
|
0.00013
|
NM_001008216.2(GALE):c.140A>C (p.Glu47Ala)
|
rs367768055
|
0.00013
|
NM_001040616.3(LINS1):c.134C>T (p.Thr45Ile)
|
rs144575104
|
0.00013
|
NM_001041.4(SI):c.4540+4A>G
|
rs201654919
|
0.00013
|
NM_001041.4(SI):c.5108+13T>C
|
rs535082142
|
0.00013
|
NM_001042351.3(G6PD):c.-23G>A
|
rs782577241
|
0.00013
|
NM_001243177.4(ALDOA):c.922G>A (p.Val308Ile)
|
rs142759891
|
0.00013
|
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile)
|
rs575286749
|
0.00013
|
NM_001352514.2(HLCS):c.2407C>T (p.Pro803Ser)
|
rs538159086
|
0.00013
|
NM_001360016.2(G6PD):c.1240A>C (p.Asn414His)
|
rs201794043
|
0.00013
|
NM_001365304.2(LOC112694756):c.*1680C>T
|
rs886051896
|
0.00013
|
NM_001366110.1(PAX4):c.1014C>T (p.Ala338=)
|
rs201607054
|
0.00013
|
NM_002294.3(LAMP2):c.*2476C>T
|
rs776684734
|
0.00013
|
NM_002294.3(LAMP2):c.1093+2532G>A
|
rs730880488
|
0.00013
|
NM_002299.4(LCT):c.*230T>C
|
rs749324196
|
0.00013
|
NM_002637.4(PHKA1):c.3350G>A (p.Arg1117His)
|
rs143802511
|
0.00013
|
NM_003477.3(PDHX):c.*763G>A
|
rs886048250
|
0.00013
|
NM_003619.4(PRSS12):c.2034C>G (p.Phe678Leu)
|
rs142551296
|
0.00013
|
NM_003619.4(PRSS12):c.669G>A (p.Pro223=)
|
rs151271524
|
0.00013
|
NM_004130.4(GYG1):c.284A>G (p.Tyr95Cys)
|
rs139797816
|
0.00013
|
NM_004130.4(GYG1):c.883G>C (p.Asp295His)
|
rs202085215
|
0.00013
|
NM_004130.4(GYG1):c.961C>T (p.Arg321Trp)
|
rs138596591
|
0.00013
|
NM_004563.4(PCK2):c.287G>A (p.Arg96His)
|
rs770940344
|
0.00013
|
NM_005327.7(HADH):c.133-15C>T
|
rs190144364
|
0.00013
|
NM_005566.4(LDHA):c.*660C>T
|
rs765180823
|
0.00013
|
NM_005609.2(PYGM):c.-724C>G
|
rs754685048
|
0.00013
|
NM_005609.4(PYGM):c.2203C>T (p.Arg735Cys)
|
rs559363120
|
0.00013
|
NM_005908.4(MANBA):c.1573A>G (p.Ser525Gly)
|
rs138216864
|
0.00013
|
NM_006279.5(ST3GAL3):c.400A>T (p.Asn134Tyr)
|
rs201834329
|
0.00013
|
NM_006516.4(SLC2A1):c.764A>C (p.Lys255Thr)
|
rs5811
|
0.00013
|
NM_016219.5(MAN1B1):c.1950C>T (p.Pro650=)
|
rs377461918
|
0.00013
|
NM_016219.5(MAN1B1):c.213C>G (p.Cys71Trp)
|
rs575361734
|
0.00013
|
NM_016219.5(MAN1B1):c.770T>C (p.Phe257Ser)
|
rs768668950
|
0.00013
|
NM_017755.6(NSUN2):c.*294C>G
|
rs886060727
|
0.00013
|
NM_017755.6(NSUN2):c.2043G>A (p.Arg681=)
|
rs150785220
|
0.00013
|
NM_020897.3(HCN3):c.*1068G>A
|
rs528740550
|
0.00013
|
NM_021957.4(GYS2):c.1890+12A>G
|
rs192853475
|
0.00013
|
NM_022895.3(C12orf43):c.*2340G>A
|
rs1026422272
|
0.00013
|
NM_031229.4(RBCK1):c.1390C>T (p.Arg464Cys)
|
rs145423115
|
0.00013
|
NM_033159.4(HYAL1):c.168C>T (p.Phe56=)
|
rs369935445
|
0.00013
|
NM_138413.4(HOGA1):c.*290G>A
|
rs144890621
|
0.00013
|
NM_175914.5(HNF4A):c.*1363C>T
|
rs769165584
|
0.00013
|
NM_198586.3(NHLRC1):c.513C>T (p.Ala171=)
|
rs148907696
|
0.00013
|
NM_000046.3(ARSB):c.-848C>T
|
rs571164401
|
0.00012
|
NM_000108.5(DLD):c.549G>A (p.Thr183=)
|
rs150630885
|
0.00012
|
NM_000147.5(FUCA1):c.106C>T (p.Arg36Cys)
|
rs201209052
|
0.00012
|
NM_000152.5(GAA):c.*2C>T
|
rs761162129
|
0.00012
|
NM_000152.5(GAA):c.1288G>A (p.Glu430Lys)
|
rs375433002
|
0.00012
|
NM_000152.5(GAA):c.362A>G (p.Gln121Arg)
|
rs150284874
|
0.00012
|
NM_000154.2(GALK1):c.1044C>T (p.Phe348=)
|
rs372653001
|
0.00012
|
NM_000181.4(GUSB):c.918G>T (p.Gln306His)
|
rs375828604
|
0.00012
|
NM_000199.5(SGSH):c.534C>T (p.His178=)
|
rs139484283
|
0.00012
|
NM_000209.4(PDX1):c.841G>C (p.Glu281Gln)
|
rs1357043267
|
0.00012
|
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys)
|
rs774921979
|
0.00012
|
NM_000290.4(PGAM2):c.16C>G (p.Leu6Val)
|
rs750344114
|
0.00012
|
NM_000293.3(PHKB):c.1350C>T (p.Ile450=)
|
rs199941695
|
0.00012
|
NM_000293.3(PHKB):c.1741G>A (p.Asp581Asn)
|
rs202127217
|
0.00012
|
NM_000294.3(PHKG2):c.1051G>A (p.Asp351Asn)
|
rs151033581
|
0.00012
|
NM_000298.6(PKLR):c.1117-13C>T
|
rs145132664
|
0.00012
|
NM_000343.4(SLC5A1):c.1783C>A (p.Pro595Thr)
|
rs147453689
|
0.00012
|
NM_000507.4(FBP1):c.619G>C (p.Gly207Arg)
|
rs766175621
|
0.00012
|
NM_000528.4(MAN2B1):c.*91C>T
|
rs145108101
|
0.00012
|
NM_000528.4(MAN2B1):c.2161G>A (p.Val721Met)
|
rs148134639
|
0.00012
|
NM_001041.4(SI):c.2159+12G>A
|
rs376831754
|
0.00012
|
NM_001041.4(SI):c.4849G>C (p.Asp1617His)
|
rs202225928
|
0.00012
|
NM_001160372.4(TRAPPC9):c.2653G>A (p.Glu885Lys)
|
rs138928835
|
0.00012
|
NM_001352514.2(HLCS):c.*1827C>A
|
rs768653798
|
0.00012
|
NM_001352514.2(HLCS):c.*2555T>C
|
rs79868396
|
0.00012
|
NM_001352514.2(HLCS):c.2151C>T (p.Asn717=)
|
rs148709879
|
0.00012
|
NM_001352514.2(HLCS):c.2345A>G (p.Tyr782Cys)
|
rs200453837
|
0.00012
|
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)
|
rs141131444
|
0.00012
|
NM_001370658.1(BTD):c.653G>C (p.Gly218Ala)
|
rs144901367
|
0.00012
|
NM_002076.4(GNS):c.*2612G>T
|
rs533328232
|
0.00012
|
NM_002103.5(GYS1):c.553G>A (p.Gly185Ser)
|
rs201248933
|
0.00012
|
NM_003477.3(PDHX):c.622C>T (p.Arg208Trp)
|
rs61752927
|
0.00012
|
NM_006516.4(SLC2A1):c.*1016A>G
|
rs886046334
|
0.00012
|
NM_015028.4(TNIK):c.2869A>G (p.Met957Val)
|
rs200347488
|
0.00012
|
NM_016219.5(MAN1B1):c.1789C>T (p.Arg597Trp)
|
rs374963946
|
0.00012
|
NM_016219.5(MAN1B1):c.768C>T (p.Val256=)
|
rs145906530
|
0.00012
|
NM_017755.6(NSUN2):c.1780G>A (p.Gly594Ser)
|
rs763793795
|
0.00012
|
NM_021957.4(GYS2):c.630G>A (p.Gly210=)
|
rs201503558
|
0.00012
|
NM_033159.4(HYAL1):c.1041C>T (p.Phe347=)
|
rs377105091
|
0.00012
|
NM_053013.4(ENO3):c.1121G>A (p.Gly374Glu)
|
rs121918404
|
0.00012
|
NM_000030.3(AGXT):c.1071+12C>T
|
rs375775541
|
0.00011
|
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys)
|
rs369664123
|
0.00011
|
NM_000030.3(AGXT):c.885G>A (p.Ala295=)
|
rs377132245
|
0.00011
|
NM_000030.3(AGXT):c.949C>T (p.Arg317Trp)
|
rs774030578
|
0.00011
|
NM_000035.4(ALDOB):c.*819A>C
|
rs780375040
|
0.00011
|
NM_000035.4(ALDOB):c.1011G>A (p.Gln337=)
|
rs566549564
|
0.00011
|
NM_000035.4(ALDOB):c.166C>T (p.Arg56Cys)
|
rs201397971
|
0.00011
|
NM_000035.4(ALDOB):c.445C>T (p.Arg149Cys)
|
rs190464963
|
0.00011
|
NM_000046.4(ARSB):c.-187G>A
|
rs529476939
|
0.00011
|
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile)
|
rs768385469
|
0.00011
|
NM_000152.5(GAA):c.2161G>C (p.Glu721Gln)
|
rs140376273
|
0.00011
|
NM_000154.2(GALK1):c.1096C>T (p.Arg366Trp)
|
rs536478616
|
0.00011
|
NM_000155.4(GALT):c.378-12G>A
|
rs151309174
|
0.00011
|
NM_000158.4(GBE1):c.*226T>C
|
rs748963117
|
0.00011
|
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_000199.5(SGSH):c.*126G>A
|
rs546128310
|
0.00011
|
NM_000199.5(SGSH):c.1049C>T (p.Pro350Leu)
|
rs144035603
|
0.00011
|
NM_000203.5(IDUA):c.1343C>A (p.Ala448Asp)
|
rs565375837
|
0.00011
|
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)
|
rs746809894
|
0.00011
|
NM_000209.4(PDX1):c.52T>C (p.Cys18Arg)
|
rs137852785
|
0.00011
|
NM_000262.3(NAGA):c.230T>C (p.Ile77Thr)
|
rs375884363
|
0.00011
|
NM_000284.4(PDHA1):c.319G>A (p.Gly107Ser)
|
rs764996618
|
0.00011
|
NM_000289.6(PFKM):c.*3C>T
|
rs367783282
|
0.00011
|
NM_000289.6(PFKM):c.1063-5C>T
|
rs758178966
|
0.00011
|
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser)
|
rs141550921
|
0.00011
|
NM_000289.6(PFKM):c.2121G>A (p.Ser707=)
|
rs370046842
|
0.00011
|
NM_000289.6(PFKM):c.638+15C>A
|
rs376150217
|
0.00011
|
NM_000290.4(PGAM2):c.480T>C (p.Ile160=)
|
rs780650903
|
0.00011
|
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu)
|
rs199792389
|
0.00011
|
NM_000292.3(PHKA2):c.1927G>C (p.Asp643His)
|
rs369400689
|
0.00011
|
NM_000293.3(PHKB):c.*741G>A
|
rs1041235488
|
0.00011
|
NM_000293.3(PHKB):c.893C>T (p.Pro298Leu)
|
rs558898797
|
0.00011
|
NM_000298.6(PKLR):c.805G>T (p.Val269Phe)
|
rs200695047
|
0.00011
|
NM_000308.4(CTSA):c.*320G>A
|
rs568876316
|
0.00011
|
NM_000308.4(CTSA):c.948+5G>A
|
rs201180372
|
0.00011
|
NM_000343.4(SLC5A1):c.312+3G>A
|
rs200776237
|
0.00011
|
NM_000343.4(SLC5A1):c.97G>A (p.Val33Ile)
|
rs33918436
|
0.00011
|
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_000404.4(GLB1):c.1562G>A (p.Cys521Tyr)
|
rs186781398
|
0.00011
|
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp)
|
rs201807974
|
0.00011
|
NM_000507.4(FBP1):c.*152C>T
|
rs190431674
|
0.00011
|
NM_000507.4(FBP1):c.-130C>A
|
rs1003899519
|
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_000528.4(MAN2B1):c.516G>A (p.Met172Ile)
|
rs144119421
|
0.00011
|
NM_000545.8(HNF1A):c.1624-19G>A
|
rs193922586
|
0.00011
|
NM_000545.8(HNF1A):c.1706G>A (p.Ser569Asn)
|
rs752219487
|
0.00011
|
NM_000642.3(AGL):c.*1103A>G
|
rs138743315
|
0.00011
|
NM_000642.3(AGL):c.3231G>A (p.Lys1077=)
|
rs138063386
|
0.00011
|
NM_000642.3(AGL):c.341G>A (p.Arg114His)
|
rs150146360
|
0.00011
|
NM_000642.3(AGL):c.4462C>T (p.His1488Tyr)
|
rs374651629
|
0.00011
|
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser)
|
rs141035459
|
0.00011
|
NM_000925.3(PDHB):c.-49T>C
|
rs373907802
|
0.00011
|
NM_001040716.2(PC):c.1771G>A (p.Ala591Thr)
|
rs139795235
|
0.00011
|
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln)
|
rs755385132
|
0.00011
|
NM_001040716.2(PC):c.3473G>A (p.Arg1158His)
|
rs149054698
|
0.00011
|
NM_001040716.2(PC):c.904-11C>T
|
rs200473405
|
0.00011
|
NM_001041.4(SI):c.118+10A>G
|
rs200646132
|
0.00011
|
NM_001041.4(SI):c.2599T>C (p.Tyr867His)
|
rs140230726
|
0.00011
|
NM_001041.4(SI):c.4458G>A (p.Thr1486=)
|
rs140287192
|
0.00011
|
NM_001041.4(SI):c.5C>A (p.Ala2Glu)
|
rs201612742
|
0.00011
|
NM_001080510.5(METTL23):c.20C>T (p.Ala7Val)
|
rs201999820
|
0.00011
|
NM_001164277.2(SLC37A4):c.*31C>T
|
rs564775174
|
0.00011
|
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile)
|
rs368124997
|
0.00011
|
NM_001352514.2(HLCS):c.951C>T (p.Ser317=)
|
rs185480832
|
0.00011
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
NM_001543.5(NDST1):c.1360C>T (p.Arg454Cys)
|
rs150009231
|
0.00011
|
NM_001715.3(BLK):c.-76G>A
|
rs957686517
|
0.00011
|
NM_001715.3(BLK):c.809C>T (p.Thr270Met)
|
rs368427116
|
0.00011
|
NM_001739.2(CA5A):c.555G>A (p.Lys185=)
|
rs147623570
|
0.00011
|
NM_001807.6(CEL):c.358G>A (p.Val120Ile)
|
rs201336247
|
0.00011
|
NM_002076.4(GNS):c.*2843C>T
|
rs577545481
|
0.00011
|
NM_002076.4(GNS):c.577C>T (p.Arg193Trp)
|
rs144220755
|
0.00011
|
NM_002103.5(GYS1):c.*824del
|
rs886054565
|
0.00011
|
NM_002103.5(GYS1):c.1121A>G (p.Asn374Ser)
|
rs200672892
|
0.00011
|
NM_002294.3(LAMP2):c.*975A>G
|
rs1179268991
|
0.00011
|
NM_002299.4(LCT):c.21A>G (p.Val7=)
|
rs377228457
|
0.00011
|
NM_002299.4(LCT):c.5656G>A (p.Val1886Ile)
|
rs376732886
|
0.00011
|
NM_002500.4(NEUROD1):c.*1601C>A
|
rs929497632
|
0.00011
|
NM_002591.4(PCK1):c.1211C>T (p.Ser404Leu)
|
rs149472972
|
0.00011
|
NM_002591.4(PCK1):c.521C>T (p.Thr174Met)
|
rs199822253
|
0.00011
|
NM_002637.4(PHKA1):c.2483A>G (p.Tyr828Cys)
|
rs144583035
|
0.00011
|
NM_002863.5(PYGL):c.2540A>T (p.Asn847Ile)
|
rs147863207
|
0.00011
|
NM_003041.4(SLC5A2):c.1145T>C (p.Met382Thr)
|
rs141627694
|
0.00011
|
NM_003051.4(SLC16A1):c.*603T>C
|
rs527658261
|
0.00011
|
NM_003384.3(VRK1):c.845T>C (p.Ile282Thr)
|
rs371024271
|
0.00011
|
NM_003597.5(KLF11):c.*166C>T
|
rs531131204
|
0.00011
|
NM_003619.4(PRSS12):c.*604A>C
|
rs551930250
|
0.00011
|
NM_003619.4(PRSS12):c.2054C>T (p.Thr685Ile)
|
rs201801258
|
0.00011
|
NM_005327.7(HADH):c.*142G>A
|
rs560215584
|
0.00011
|
NM_005609.4(PYGM):c.1272C>A (p.Asp424Glu)
|
rs372851103
|
0.00011
|
NM_005609.4(PYGM):c.2446C>T (p.Arg816Cys)
|
rs143177272
|
0.00011
|
NM_005908.4(MANBA):c.*172G>A
|
rs146374185
|
0.00011
|
NM_005908.4(MANBA):c.1913G>A (p.Arg638His)
|
rs781584789
|
0.00011
|
NM_012203.2(GRHPR):c.149C>T (p.Ala50Val)
|
rs150805048
|
0.00011
|
NM_012203.2(GRHPR):c.296G>A (p.Arg99Gln)
|
rs146603229
|
0.00011
|
NM_012203.2(GRHPR):c.742G>A (p.Val248Ile)
|
rs369950120
|
0.00011
|
NM_015275.3(WASHC4):c.154T>G (p.Ser52Ala)
|
rs376604258
|
0.00011
|
NM_016042.4(EXOSC3):c.*402C>T
|
rs567641975
|
0.00011
|
NM_016219.5(MAN1B1):c.1636A>G (p.Met546Val)
|
rs144672735
|
0.00011
|
NM_016219.5(MAN1B1):c.163A>C (p.Ser55Arg)
|
rs372680556
|
0.00011
|
NM_016219.5(MAN1B1):c.586C>T (p.Arg196Cys)
|
rs373430024
|
0.00011
|
NM_020066.5(FMN2):c.2297G>A (p.Arg766His)
|
rs554313620
|
0.00011
|
NM_021957.4(GYS2):c.1672C>T (p.Arg558Cys)
|
rs148617918
|
0.00011
|
NM_024989.4(PGAP1):c.55T>C (p.Phe19Leu)
|
rs749719250
|
0.00011
|
NM_031229.4(RBCK1):c.1040C>G (p.Pro347Arg)
|
rs370963132
|
0.00011
|
NM_031229.4(RBCK1):c.1090C>T (p.Arg364Cys)
|
rs144018482
|
0.00011
|
NM_031466.8(TRAPPC9):c.-74C>A
|
rs139214686
|
0.00011
|
NM_138413.4(HOGA1):c.700+9C>T
|
rs375091787
|
0.00011
|
NM_144563.3(RPIA):c.789C>T (p.Asp263=)
|
rs368582524
|
0.00011
|
NM_152419.3(HGSNAT):c.715C>T (p.Arg239Cys)
|
rs369292480
|
0.00011
|
NM_175914.5(HNF4A):c.*2374G>C
|
rs373068234
|
0.00011
|
NM_198586.3(NHLRC1):c.478T>C (p.Cys160Arg)
|
rs200595273
|
0.00011
|
NM_000027.4(AGA):c.109A>G (p.Lys37Glu)
|
rs766776902
|
0.00010
|
NM_000046.5(ARSB):c.*1373A>G
|
rs146584784
|
0.00010
|
NM_000046.5(ARSB):c.393G>T (p.Gln131His)
|
rs139174369
|
0.00010
|
NM_000046.5(ARSB):c.914C>T (p.Thr305Ile)
|
rs199931771
|
0.00010
|
NM_000147.5(FUCA1):c.34G>T (p.Gly12Cys)
|
rs530854024
|
0.00010
|
NM_000147.5(FUCA1):c.825A>T (p.Gly275=)
|
rs199675692
|
0.00010
|
NM_000151.4(G6PC1):c.*1652C>T
|
rs765883953
|
0.00010
|
NM_000152.5(GAA):c.-62A>C
|
rs367731841
|
0.00010
|
NM_000152.5(GAA):c.1357G>A (p.Gly453Arg)
|
rs550065979
|
0.00010
|
NM_000152.5(GAA):c.1758G>A (p.Ala586=)
|
rs79795428
|
0.00010
|
NM_000152.5(GAA):c.1920T>G (p.Pro640=)
|
rs144090460
|
0.00010
|
NM_000152.5(GAA):c.2122C>T (p.His708Tyr)
|
rs149916476
|
0.00010
|
NM_000152.5(GAA):c.2319C>T (p.Tyr773=)
|
rs377402848
|
0.00010
|
NM_000152.5(GAA):c.610G>A (p.Ala204Thr)
|
rs780799275
|
0.00010
|
NM_000152.5(GAA):c.725C>A (p.Ala242Glu)
|
rs745861849
|
0.00010
|
NM_000152.5(GAA):c.76C>T (p.Leu26Phe)
|
rs149761650
|
0.00010
|
NM_000152.5(GAA):c.851C>G (p.Ala284Gly)
|
rs147569830
|
0.00010
|
NM_000155.4(GALT):c.864C>T (p.Asn288=)
|
rs372134800
|
0.00010
|
NM_000158.4(GBE1):c.2036G>A (p.Arg679His)
|
rs758188572
|
0.00010
|
NM_000158.4(GBE1):c.584G>A (p.Arg195Gln)
|
rs368555635
|
0.00010
|
NM_000199.5(SGSH):c.*471G>A
|
rs138717045
|
0.00010
|
NM_000199.5(SGSH):c.250-15C>T
|
rs369082713
|
0.00010
|
NM_000199.5(SGSH):c.730G>A (p.Gly244Ser)
|
rs773480617
|
0.00010
|
NM_000199.5(SGSH):c.964A>G (p.Ile322Val)
|
rs151243903
|
0.00010
|
NM_000203.5(IDUA):c.1402+8G>A
|
rs1315308939
|
0.00010
|
NM_000203.5(IDUA):c.1727+4C>T
|
rs1202966289
|
0.00010
|
NM_000203.5(IDUA):c.932C>T (p.Pro311Leu)
|
rs377684568
|
0.00010
|
NM_000207.3(INS):c.*28G>A
|
rs778107057
|
0.00010
|
NM_000209.4(PDX1):c.28G>A (p.Ala10Thr)
|
rs936474667
|
0.00010
|
NM_000262.3(NAGA):c.618G>A (p.Ala206=)
|
rs200770245
|
0.00010
|
NM_000263.4(NAGLU):c.723G>A (p.Val241=)
|
rs140945842
|
0.00010
|
NM_000289.6(PFKM):c.-17G>C
|
rs952485517
|
0.00010
|
NM_000290.4(PGAM2):c.194G>A (p.Arg65His)
|
rs200420235
|
0.00010
|
NM_000293.3(PHKB):c.*345C>T
|
rs757393313
|
0.00010
|
NM_000293.3(PHKB):c.1378A>T (p.Ser460Cys)
|
rs201217052
|
0.00010
|
NM_000293.3(PHKB):c.714G>A (p.Ser238=)
|
rs772326970
|
0.00010
|
NM_000294.3(PHKG2):c.926G>A (p.Arg309Gln)
|
rs572115942
|
0.00010
|
NM_000298.6(PKLR):c.121C>T (p.Arg41Trp)
|
rs375189218
|
0.00010
|
NM_000298.6(PKLR):c.1365C>T (p.Thr455=)
|
rs146708702
|
0.00010
|
NM_000298.6(PKLR):c.727G>A (p.Gly243Ser)
|
rs745797890
|
0.00010
|
NM_000308.4(CTSA):c.977G>A (p.Arg326His)
|
rs554534522
|
0.00010
|
NM_000352.6(ABCC8):c.3112G>A (p.Asp1038Asn)
|
rs367974472
|
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_000365.6(TPI1):c.-11G>A
|
rs199634350
|
0.00010
|
NM_000404.4(GLB1):c.1480-8C>G
|
rs753129246
|
0.00010
|
NM_000404.4(GLB1):c.1529C>T (p.Thr510Met)
|
rs1803198
|
0.00010
|
NM_000507.4(FBP1):c.-59A>T
|
rs913996916
|
0.00010
|
NM_000507.4(FBP1):c.14C>A (p.Ala5Glu)
|
rs759615686
|
0.00010
|
NM_000525.4(KCNJ11):c.-54C>T
|
rs1016780684
|
0.00010
|
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=)
|
rs199606152
|
0.00010
|
NM_000528.4(MAN2B1):c.922C>T (p.Arg308Cys)
|
rs185112259
|
0.00010
|
NM_000545.8(HNF1A):c.185A>G (p.Asn62Ser)
|
rs377129682
|
0.00010
|
NM_000642.3(AGL):c.*1224C>T
|
rs12563807
|
0.00010
|
NM_000642.3(AGL):c.*1691A>G
|
rs886044933
|
0.00010
|
NM_000642.3(AGL):c.1321A>G (p.Met441Val)
|
rs753035763
|
0.00010
|
NM_000642.3(AGL):c.3584C>G (p.Thr1195Arg)
|
rs148930543
|
0.00010
|
NM_000891.3(KCNJ2):c.*2875_*2876del
|
rs561353262
|
0.00010
|
NM_000891.3(KCNJ2):c.*3409A>G
|
rs551384883
|
0.00010
|
NM_000925.4(PDHB):c.10G>A (p.Val4Met)
|
rs201470762
|
0.00010
|
NM_001008216.2(GALE):c.*192T>C
|
rs576468712
|
0.00010
|
NM_001008216.2(GALE):c.307G>T (p.Asp103Tyr)
|
rs542486536
|
0.00010
|
NM_001008216.2(GALE):c.647C>T (p.Ala216Val)
|
rs542192037
|
0.00010
|
NM_001040716.2(PC):c.*185G>A
|
rs573667993
|
0.00010
|
NM_001040716.2(PC):c.2224-14C>T
|
rs780315450
|
0.00010
|
NM_001041.4(SI):c.1378A>T (p.Ser460Cys)
|
rs141450837
|
0.00010
|
NM_001041.4(SI):c.3408A>C (p.Arg1136Ser)
|
rs138927818
|
0.00010
|
NM_001160372.4(TRAPPC9):c.2882C>T (p.Ala961Val)
|
rs769398594
|
0.00010
|
NM_001160372.4(TRAPPC9):c.940G>A (p.Ala314Thr)
|
rs762765901
|
0.00010
|
NM_001164277.2(SLC37A4):c.71A>G (p.Tyr24Cys)
|
rs569831771
|
0.00010
|
NM_001164277.2(SLC37A4):c.871+6C>T
|
rs377101167
|
0.00010
|
NM_001164277.2(SLC37A4):c.956G>A (p.Arg319Gln)
|
rs782703235
|
0.00010
|
NM_001352514.2(HLCS):c.*1594A>G
|
rs776064678
|
0.00010
|
NM_001365304.2(LOC112694756):c.*1676T>G
|
rs886051895
|
0.00010
|
NM_001366110.1(PAX4):c.1024C>T (p.Pro342Ser)
|
rs143084654
|
0.00010
|
NM_001370658.1(BTD):c.382C>T (p.Arg128Cys)
|
rs137877018
|
0.00010
|
NM_001715.3(BLK):c.*229G>C
|
rs1045306871
|
0.00010
|
NM_001715.3(BLK):c.139C>G (p.Leu47Val)
|
rs202045056
|
0.00010
|
NM_001807.6(CEL):c.2092T>G (p.Ser698Ala)
|
rs587780310
|
0.00010
|
NM_002076.4(GNS):c.49C>T (p.Arg17Cys)
|
rs574024349
|
0.00010
|
NM_002591.4(PCK1):c.858C>T (p.Ser286=)
|
rs150928523
|
0.00010
|
NM_002637.4(PHKA1):c.2063G>A (p.Arg688Gln)
|
rs201234013
|
0.00010
|
NM_002863.5(PYGL):c.1729C>T (p.Gln577Ter)
|
rs149096315
|
0.00010
|
NM_003051.4(SLC16A1):c.*1801A>G
|
rs750135904
|
0.00010
|
NM_003384.3(VRK1):c.161-14A>G
|
rs375176918
|
0.00010
|
NM_003477.3(PDHX):c.*259G>T
|
rs771515806
|
0.00010
|
NM_003477.3(PDHX):c.*650G>A
|
rs886048249
|
0.00010
|
NM_003477.3(PDHX):c.577G>C (p.Glu193Gln)
|
rs149337104
|
0.00010
|
NM_003597.5(KLF11):c.*1386A>G
|
rs886054732
|
0.00010
|
NM_003619.4(PRSS12):c.1640C>A (p.Ala547Asp)
|
rs201005601
|
0.00010
|
NM_003619.4(PRSS12):c.2320+6G>C
|
rs369283461
|
0.00010
|
NM_005327.7(HADH):c.676T>C (p.Tyr226His)
|
rs146036912
|
0.00010
|
NM_005609.4(PYGM):c.1465C>T (p.Pro489Ser)
|
rs752622662
|
0.00010
|
NM_005609.4(PYGM):c.1558C>T (p.Arg520Cys)
|
rs200481790
|
0.00010
|
NM_005609.4(PYGM):c.2447G>A (p.Arg816His)
|
rs139230055
|
0.00010
|
NM_005609.4(PYGM):c.284C>T (p.Thr95Met)
|
rs375233791
|
0.00010
|
NM_005609.4(PYGM):c.606C>T (p.His202=)
|
rs79860859
|
0.00010
|
NM_005609.4(PYGM):c.7C>T (p.Arg3Trp)
|
rs199565370
|
0.00010
|
NM_005908.4(MANBA):c.1025A>G (p.Tyr342Cys)
|
rs771658981
|
0.00010
|
NM_006488.3(KHK):c.470A>C (p.Asn157Thr)
|
rs150233686
|
0.00010
|
NM_006516.4(SLC2A1):c.*587A>T
|
rs748209315
|
0.00010
|
NM_016042.4(EXOSC3):c.*63T>G
|
rs753180747
|
0.00010
|
NM_016203.4(PRKAG2):c.425C>T (p.Thr142Ile)
|
rs397517270
|
0.00010
|
NM_017755.6(NSUN2):c.1458T>C (p.His486=)
|
rs200925761
|
0.00010
|
NM_020066.5(FMN2):c.4123C>A (p.Leu1375Ile)
|
rs146873580
|
0.00010
|
NM_021956.5(GRIK2):c.1628G>A (p.Arg543His)
|
rs141189363
|
0.00010
|
NM_021956.5(GRIK2):c.613C>T (p.Pro205Ser)
|
rs56067702
|
0.00010
|
NM_021957.4(GYS2):c.1906T>C (p.Tyr636His)
|
rs143798221
|
0.00010
|
NM_024298.5(MBOAT7):c.1151G>A (p.Arg384Gln)
|
rs545959971
|
0.00010
|
NM_031229.4(RBCK1):c.1189G>A (p.Val397Ile)
|
rs538961301
|
0.00010
|
NM_138413.4(HOGA1):c.910G>A (p.Ala304Thr)
|
rs116527624
|
0.00010
|
NM_152419.3(HGSNAT):c.1228C>A (p.Leu410Met)
|
rs367831580
|
0.00010
|
NM_152419.3(HGSNAT):c.1688T>G (p.Val563Gly)
|
rs773104757
|
0.00010
|
NM_152419.3(HGSNAT):c.32T>C (p.Leu11Pro)
|
rs1025643467
|
0.00010
|
NM_000035.4(ALDOB):c.*568G>A
|
rs978202633
|
0.00009
|
NM_000035.4(ALDOB):c.127C>T (p.Arg43Cys)
|
rs772473508
|
0.00009
|
NM_000035.4(ALDOB):c.488C>T (p.Ala163Val)
|
rs202210810
|
0.00009
|
NM_000046.5(ARSB):c.*2672A>G
|
rs886060780
|
0.00009
|
NM_000046.5(ARSB):c.1122C>T (p.Phe374=)
|
rs149886659
|
0.00009
|
NM_000046.5(ARSB):c.1258C>G (p.Pro420Ala)
|
rs769542268
|
0.00009
|
NM_000046.5(ARSB):c.181G>A (p.Gly61Ser)
|
rs375647920
|
0.00009
|
NM_000108.5(DLD):c.*1877A>G
|
rs182010485
|
0.00009
|
NM_000147.5(FUCA1):c.11C>T (p.Pro4Leu)
|
rs747889861
|
0.00009
|
NM_000151.4(G6PC1):c.*1324C>T
|
rs548787621
|
0.00009
|
NM_000152.5(GAA):c.1630G>A (p.Val544Met)
|
rs567695610
|
0.00009
|
NM_000152.5(GAA):c.546+6C>T
|
rs375727055
|
0.00009
|
NM_000152.5(GAA):c.682G>A (p.Gly228Ser)
|
rs747150907
|
0.00009
|
NM_000152.5(GAA):c.711G>A (p.Ala237=)
|
rs368328598
|
0.00009
|
NM_000154.2(GALK1):c.1116C>T (p.Tyr372=)
|
rs763195503
|
0.00009
|
NM_000158.4(GBE1):c.496C>T (p.Arg166Cys)
|
rs376546162
|
0.00009
|
NM_000162.5(GCK):c.393C>T (p.Ser131=)
|
rs139139350
|
0.00009
|
NM_000181.4(GUSB):c.-10A>T
|
rs540793200
|
0.00009
|
NM_000199.5(SGSH):c.1321C>T (p.Arg441Trp)
|
rs751604358
|
0.00009
|
NM_000199.5(SGSH):c.1328G>A (p.Arg443Gln)
|
rs377605690
|
0.00009
|
NM_000199.5(SGSH):c.349C>T (p.Arg117Cys)
|
rs772732363
|
0.00009
|
NM_000199.5(SGSH):c.417G>A (p.Thr139=)
|
rs142729872
|
0.00009
|
NM_000199.5(SGSH):c.506+9C>T
|
rs376523398
|
0.00009
|
NM_000199.5(SGSH):c.636C>T (p.Pro212=)
|
rs771680187
|
0.00009
|
NM_000199.5(SGSH):c.746-15G>A
|
rs373302525
|
0.00009
|
NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)
|
rs201268637
|
0.00009
|
NM_000263.4(NAGLU):c.1430G>C (p.Ser477Thr)
|
rs369970264
|
0.00009
|
NM_000263.4(NAGLU):c.1435G>A (p.Ala479Thr)
|
rs202115696
|
0.00009
|
NM_000263.4(NAGLU):c.1474G>A (p.Ala492Thr)
|
rs930823153
|
0.00009
|
NM_000263.4(NAGLU):c.788C>T (p.Thr263Met)
|
rs777479452
|
0.00009
|
NM_000293.3(PHKB):c.1307G>A (p.Arg436His)
|
rs143602657
|
0.00009
|
NM_000293.3(PHKB):c.3122G>A (p.Arg1041Gln)
|
rs372327608
|
0.00009
|
NM_000293.3(PHKB):c.491A>G (p.Tyr164Cys)
|
rs144211929
|
0.00009
|
NM_000294.3(PHKG2):c.83A>T (p.Asp28Val)
|
rs777228104
|
0.00009
|
NM_000308.4(CTSA):c.920G>A (p.Arg307His)
|
rs199808601
|
0.00009
|
NM_000340.2(SLC2A2):c.*170G>A
|
rs528459194
|
0.00009
|
NM_000340.2(SLC2A2):c.589G>A (p.Val197Ile)
|
rs121909741
|
0.00009
|
NM_000340.2(SLC2A2):c.995C>T (p.Thr332Met)
|
rs751917665
|
0.00009
|
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_000434.4(NEU1):c.*294G>A
|
rs908745663
|
0.00009
|
NM_000434.4(NEU1):c.1107C>A (p.Gly369=)
|
rs150864071
|
0.00009
|
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=)
|
rs751225159
|
0.00009
|
NM_000458.4(HNF1B):c.1654-9T>A
|
rs200579660
|
0.00009
|
NM_000507.4(FBP1):c.664C>T (p.Pro222Ser)
|
rs1373961798
|
0.00009
|
NM_000512.5(GALNS):c.1375G>A (p.Ala459Thr)
|
rs750739641
|
0.00009
|
NM_000512.5(GALNS):c.857C>T (p.Thr286Met)
|
rs137927658
|
0.00009
|
NM_000525.4(KCNJ11):c.*218G>T
|
rs886048039
|
0.00009
|
NM_000525.4(KCNJ11):c.186G>A (p.Thr62=)
|
rs748877741
|
0.00009
|
NM_000528.4(MAN2B1):c.1417G>A (p.Glu473Lys)
|
rs749371047
|
0.00009
|
NM_000528.4(MAN2B1):c.1622A>G (p.Asn541Ser)
|
rs564296108
|
0.00009
|
NM_000528.4(MAN2B1):c.19G>C (p.Ala7Pro)
|
rs199673719
|
0.00009
|
NM_000528.4(MAN2B1):c.2355+5C>G
|
rs770412137
|
0.00009
|
NM_000528.4(MAN2B1):c.474C>T (p.Asn158=)
|
rs146331898
|
0.00009
|
NM_000528.4(MAN2B1):c.48G>A (p.Leu16=)
|
rs777286610
|
0.00009
|
NM_000528.4(MAN2B1):c.744G>A (p.Pro248=)
|
rs3745649
|
0.00009
|
NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys)
|
rs772222326
|
0.00009
|
NM_000545.8(HNF1A):c.1721G>A (p.Ser574Asn)
|
rs773895173
|
0.00009
|
NM_000642.3(AGL):c.*1720A>C
|
rs111689090
|
0.00009
|
NM_000642.3(AGL):c.1424G>T (p.Gly475Val)
|
rs538916479
|
0.00009
|
NM_000642.3(AGL):c.2771A>C (p.Asp924Ala)
|
rs761479006
|
0.00009
|
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln)
|
rs147977213
|
0.00009
|
NM_000642.3(AGL):c.3026C>T (p.Ala1009Val)
|
rs200129247
|
0.00009
|
NM_000642.3(AGL):c.3400G>A (p.Gly1134Ser)
|
rs146615251
|
0.00009
|
NM_000642.3(AGL):c.3451C>T (p.Arg1151Trp)
|
rs370797337
|
0.00009
|
NM_000642.3(AGL):c.4210G>A (p.Ala1404Thr)
|
rs760699630
|
0.00009
|
NM_000642.3(AGL):c.4262A>G (p.Asp1421Gly)
|
rs761264157
|
0.00009
|
NM_000642.3(AGL):c.766C>T (p.Arg256Cys)
|
rs757347826
|
0.00009
|
NM_000891.3(KCNJ2):c.-195C>G
|
rs544342049
|
0.00009
|
NM_000925.4(PDHB):c.501G>T (p.Gly167=)
|
rs759053641
|
0.00009
|
NM_001008216.2(GALE):c.755T>C (p.Ile252Thr)
|
rs148834880
|
0.00009
|
NM_001041.4(SI):c.*217A>C
|
rs577252976
|
0.00009
|
NM_001041.4(SI):c.1694G>C (p.Ser565Thr)
|
rs149898910
|
0.00009
|
NM_001041.4(SI):c.749G>A (p.Arg250His)
|
rs530009542
|
0.00009
|
NM_001080510.5(METTL23):c.250A>G (p.Ile84Val)
|
rs527442928
|
0.00009
|
NM_001160372.4(TRAPPC9):c.136G>A (p.Val46Met)
|
rs201233141
|
0.00009
|
NM_001160372.4(TRAPPC9):c.2556+7T>G
|
rs185632960
|
0.00009
|
NM_001164277.2(SLC37A4):c.*7T>G
|
rs369243698
|
0.00009
|
NM_001164277.2(SLC37A4):c.-504G>A
|
rs1045560610
|
0.00009
|
NM_001164277.2(SLC37A4):c.230G>T (p.Arg77Leu)
|
rs370839177
|
0.00009
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys)
|
rs776535574
|
0.00009
|
NM_001360016.2(G6PD):c.*25C>T
|
rs781866772
|
0.00009
|
NM_001360016.2(G6PD):c.244A>C (p.Lys82Gln)
|
rs782065240
|
0.00009
|
NM_001365304.2(LOC112694756):c.*1705G>A
|
rs539833998
|
0.00009
|
NM_001366110.1(PAX4):c.488G>A (p.Arg163Gln)
|
rs375269956
|
0.00009
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_001715.3(BLK):c.620-11C>T
|
rs764915190
|
0.00009
|
NM_001739.2(CA5A):c.123G>T (p.Trp41Cys)
|
rs374378501
|
0.00009
|
NM_002076.4(GNS):c.*2656G>A
|
rs577212739
|
0.00009
|
NM_002076.4(GNS):c.624+10A>G
|
rs757526895
|
0.00009
|
NM_002103.5(GYS1):c.1243G>A (p.Asp415Asn)
|
rs573897595
|
0.00009
|
NM_002103.5(GYS1):c.1305G>A (p.Thr435=)
|
rs147610727
|
0.00009
|
NM_002294.3(LAMP2):c.*4763A>T
|
rs761928368
|
0.00009
|
NM_002294.3(LAMP2):c.1093+2544A>G
|
rs777128122
|
0.00009
|
NM_002294.3(LAMP2):c.769A>G (p.Asn257Asp)
|
rs369032377
|
0.00009
|
NM_002299.4(LCT):c.2293C>A (p.Leu765Ile)
|
rs374623829
|
0.00009
|
NM_002299.4(LCT):c.2310A>C (p.Leu770Phe)
|
rs148593528
|
0.00009
|
NM_002500.5(NEUROD1):c.758T>C (p.Leu253Pro)
|
rs147634094
|
0.00009
|
NM_002591.4(PCK1):c.102C>T (p.Asn34=)
|
rs200771350
|
0.00009
|
NM_002591.4(PCK1):c.538G>A (p.Val180Ile)
|
rs367998997
|
0.00009
|
NM_002637.4(PHKA1):c.*1303T>C
|
rs782190105
|
0.00009
|
NM_002637.4(PHKA1):c.*674A>C
|
rs1028190311
|
0.00009
|
NM_002637.4(PHKA1):c.1727C>A (p.Thr576Lys)
|
rs1474761630
|
0.00009
|
NM_003041.4(SLC5A2):c.1791T>C (p.Asn597=)
|
rs143874850
|
0.00009
|
NM_003384.3(VRK1):c.440A>G (p.Lys147Arg)
|
rs149350224
|
0.00009
|
NM_003477.3(PDHX):c.317A>G (p.Asp106Gly)
|
rs146456454
|
0.00009
|
NM_003477.3(PDHX):c.542G>A (p.Arg181Gln)
|
rs148117169
|
0.00009
|
NM_003597.5(KLF11):c.1077G>A (p.Met359Ile)
|
rs146486664
|
0.00009
|
NM_003597.5(KLF11):c.961G>C (p.Ala321Pro)
|
rs776725808
|
0.00009
|
NM_004130.4(GYG1):c.788A>C (p.Gln263Pro)
|
rs746892694
|
0.00009
|
NM_005327.7(HADH):c.-34C>T
|
rs748286204
|
0.00009
|
NM_005566.4(LDHA):c.57C>T (p.Pro19=)
|
rs11553870
|
0.00009
|
NM_005609.4(PYGM):c.-20C>T
|
rs71581796
|
0.00009
|
NM_005609.4(PYGM):c.100C>T (p.Arg34Trp)
|
rs531748591
|
0.00009
|
NM_005609.4(PYGM):c.1403+5G>A
|
rs373040789
|
0.00009
|
NM_005609.4(PYGM):c.1766A>G (p.Asn589Ser)
|
rs140016055
|
0.00009
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
NM_005609.4(PYGM):c.540C>T (p.Ala180=)
|
rs148731983
|
0.00009
|
NM_005609.4(PYGM):c.63C>T (p.Gly21=)
|
rs368124628
|
0.00009
|
NM_005609.4(PYGM):c.776A>G (p.Asn259Ser)
|
rs115690781
|
0.00009
|
NM_005609.4(PYGM):c.877C>T (p.Arg293Trp)
|
rs558267822
|
0.00009
|
NM_005908.4(MANBA):c.1511C>T (p.Thr504Met)
|
rs370002189
|
0.00009
|
NM_005908.4(MANBA):c.1735A>G (p.Ser579Gly)
|
rs376879093
|
0.00009
|
NM_006516.4(SLC2A1):c.*651G>T
|
rs886046337
|
0.00009
|
NM_006516.4(SLC2A1):c.*784A>G
|
rs886046335
|
0.00009
|
NM_006618.5(KDM5B):c.202C>A (p.Pro68Thr)
|
rs369444528
|
0.00009
|
NM_006859.4(LIAS):c.20A>T (p.Asp7Val)
|
rs368786581
|
0.00009
|
NM_012434.5(SLC17A5):c.703A>T (p.Thr235Ser)
|
rs747385791
|
0.00009
|
NM_015275.3(WASHC4):c.2423G>A (p.Arg808Gln)
|
rs746822124
|
0.00009
|
NM_015275.3(WASHC4):c.641A>G (p.Lys214Arg)
|
rs369855750
|
0.00009
|
NM_015957.4(APIP):c.-18G>A
|
rs761199870
|
0.00009
|
NM_016219.5(MAN1B1):c.1753G>A (p.Val585Met)
|
rs150734795
|
0.00009
|
NM_017755.6(NSUN2):c.2282C>T (p.Ala761Val)
|
rs375624381
|
0.00009
|
NM_021957.4(GYS2):c.1436C>A (p.Pro479Gln)
|
rs121918420
|
0.00009
|
NM_024989.4(PGAP1):c.692G>A (p.Arg231Gln)
|
rs368553507
|
0.00009
|
NM_031229.4(RBCK1):c.1337G>A (p.Arg446His)
|
rs150032325
|
0.00009
|
NM_033159.4(HYAL1):c.1201C>T (p.Arg401Trp)
|
rs202067357
|
0.00009
|
NM_053013.4(ENO3):c.240+8G>A
|
rs768540512
|
0.00009
|
NM_053013.4(ENO3):c.934A>C (p.Asn312His)
|
rs145968147
|
0.00009
|
NM_138413.4(HOGA1):c.*1047T>C
|
rs537101942
|
0.00009
|
NM_144563.3(RPIA):c.57C>T (p.Pro19=)
|
rs780586313
|
0.00009
|
NM_145262.4(GLYCTK):c.1313C>T (p.Pro438Leu)
|
rs758823918
|
0.00009
|
NM_145262.4(GLYCTK):c.1478T>G (p.Phe493Cys)
|
rs121909448
|
0.00009
|
NM_145262.4(GLYCTK):c.457C>T (p.Arg153Trp)
|
rs199906865
|
0.00009
|
NM_152419.3(HGSNAT):c.741G>A (p.Arg247=)
|
rs775663094
|
0.00009
|
NM_175914.5(HNF4A):c.*977C>G
|
rs367907885
|
0.00009
|
NM_175914.5(HNF4A):c.427-5C>T
|
rs374703326
|
0.00009
|
NM_175914.5(HNF4A):c.464G>A (p.Arg155Gln)
|
rs142883089
|
0.00009
|
NM_198586.3(NHLRC1):c.1091C>T (p.Ser364Leu)
|
rs78324544
|
0.00009
|
NM_000030.3(AGXT):c.567C>T (p.Gly189=)
|
rs373612587
|
0.00008
|
NM_000035.4(ALDOB):c.352G>A (p.Gly118Arg)
|
rs200382297
|
0.00008
|
NM_000035.4(ALDOB):c.590A>G (p.His197Arg)
|
rs368140282
|
0.00008
|
NM_000147.5(FUCA1):c.484C>T (p.Arg162Trp)
|
rs375270869
|
0.00008
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000152.5(GAA):c.1265G>A (p.Arg422Gln)
|
rs2229224
|
0.00008
|
NM_000152.5(GAA):c.2041-4G>T
|
rs775757700
|
0.00008
|
NM_000152.5(GAA):c.2320G>A (p.Asp774Asn)
|
rs758390382
|
0.00008
|
NM_000152.5(GAA):c.533G>A (p.Arg178His)
|
rs762267535
|
0.00008
|
NM_000152.5(GAA):c.853C>T (p.Pro285Ser)
|
rs886042086
|
0.00008
|
NM_000202.8(IDS):c.1144G>C (p.Asp382His)
|
rs370125505
|
0.00008
|
NM_000203.5(IDUA):c.164C>T (p.Pro55Leu)
|
rs199554923
|
0.00008
|
NM_000203.5(IDUA):c.767T>C (p.Leu256Pro)
|
rs373037758
|
0.00008
|
NM_000262.3(NAGA):c.871G>A (p.Ala291Thr)
|
rs372146176
|
0.00008
|
NM_000263.4(NAGLU):c.1914C>T (p.Tyr638=)
|
rs369789056
|
0.00008
|
NM_000284.4(PDHA1):c.870C>T (p.His290=)
|
rs761411007
|
0.00008
|
NM_000289.6(PFKM):c.1992+5G>A
|
rs180864041
|
0.00008
|
NM_000293.3(PHKB):c.*1783A>G
|
rs886052032
|
0.00008
|
NM_000293.3(PHKB):c.1387G>C (p.Asp463His)
|
rs150683838
|
0.00008
|
NM_000293.3(PHKB):c.932T>C (p.Val311Ala)
|
rs149685822
|
0.00008
|
NM_000294.3(PHKG2):c.253G>A (p.Ala85Thr)
|
rs535265672
|
0.00008
|
NM_000308.4(CTSA):c.1031C>T (p.Pro344Leu)
|
rs368108194
|
0.00008
|
NM_000340.2(SLC2A2):c.*960T>G
|
rs971689457
|
0.00008
|
NM_000343.4(SLC5A1):c.*636A>G
|
rs932433422
|
0.00008
|
NM_000343.4(SLC5A1):c.1556C>T (p.Thr519Met)
|
rs33975915
|
0.00008
|
NM_000343.4(SLC5A1):c.1866G>C (p.Glu622Asp)
|
rs200626260
|
0.00008
|
NM_000352.6(ABCC8):c.1486C>T (p.Leu496=)
|
rs150956385
|
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.973G>A (p.Asp325Asn)
|
rs781480098
|
0.00008
|
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)
|
rs137852328
|
0.00008
|
NM_000404.4(GLB1):c.1601A>G (p.His534Arg)
|
rs770982909
|
0.00008
|
NM_000525.4(KCNJ11):c.1117G>A (p.Val373Met)
|
rs770375846
|
0.00008
|
NM_000525.4(KCNJ11):c.526C>T (p.Arg176Cys)
|
rs201264306
|
0.00008
|
NM_000525.4(KCNJ11):c.934G>A (p.Gly312Ser)
|
rs72554079
|
0.00008
|
NM_000528.4(MAN2B1):c.2020C>T (p.Arg674Cys)
|
rs770791374
|
0.00008
|
NM_000528.4(MAN2B1):c.2341C>T (p.Arg781Trp)
|
rs201600797
|
0.00008
|
NM_000528.4(MAN2B1):c.274A>G (p.Ile92Val)
|
rs751849414
|
0.00008
|
NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=)
|
rs142797984
|
0.00008
|
NM_000642.3(AGL):c.1076C>T (p.Pro359Leu)
|
rs558217174
|
0.00008
|
NM_000642.3(AGL):c.11G>A (p.Ser4Asn)
|
rs1257997077
|
0.00008
|
NM_000642.3(AGL):c.1423+3A>G
|
rs766117687
|
0.00008
|
NM_000642.3(AGL):c.3116A>T (p.His1039Leu)
|
rs1430797073
|
0.00008
|
NM_000642.3(AGL):c.3290G>A (p.Arg1097His)
|
rs185947256
|
0.00008
|
NM_000642.3(AGL):c.3697G>A (p.Glu1233Lys)
|
rs375254875
|
0.00008
|
NM_001041.4(SI):c.3331A>G (p.Ile1111Val)
|
rs145913658
|
0.00008
|
NM_001041.4(SI):c.3905G>C (p.Gly1302Ala)
|
rs780497188
|
0.00008
|
NM_001041.4(SI):c.801T>C (p.Pro267=)
|
rs752564085
|
0.00008
|
NM_001041.4(SI):c.808-14T>A
|
rs762854920
|
0.00008
|
NM_001352514.2(HLCS):c.*1085G>A
|
rs531457233
|
0.00008
|
NM_001352514.2(HLCS):c.601G>C (p.Glu201Gln)
|
rs373822815
|
0.00008
|
NM_001360016.2(G6PD):c.120+7A>C
|
rs369904290
|
0.00008
|
NM_001360016.2(G6PD):c.1287+3G>C
|
rs782786750
|
0.00008
|
NM_001365304.2(LOC112694756):c.*622-5C>T
|
rs752764982
|
0.00008
|
NM_001366110.1(PAX4):c.14-51G>A
|
rs878919319
|
0.00008
|
NM_001370658.1(BTD):c.986A>C (p.Asn329Thr)
|
rs200327983
|
0.00008
|
NM_001715.3(BLK):c.-124C>T
|
rs886062593
|
0.00008
|
NM_002076.4(GNS):c.*3dup
|
rs766104697
|
0.00008
|
NM_002076.4(GNS):c.143A>G (p.Asn48Ser)
|
rs370011049
|
0.00008
|
NM_002076.4(GNS):c.1583A>G (p.Tyr528Cys)
|
rs138355639
|
0.00008
|
NM_002076.4(GNS):c.223G>A (p.Gly75Arg)
|
rs371990029
|
0.00008
|
NM_002076.4(GNS):c.462C>T (p.Tyr154=)
|
rs139536679
|
0.00008
|
NM_002500.5(NEUROD1):c.646G>A (p.Val216Ile)
|
rs755299574
|
0.00008
|
NM_002591.4(PCK1):c.1320T>C (p.Gly440=)
|
rs140553751
|
0.00008
|
NM_002637.4(PHKA1):c.2335C>A (p.Gln779Lys)
|
rs144670958
|
0.00008
|
NM_002637.4(PHKA1):c.742C>T (p.Arg248Cys)
|
rs1382212255
|
0.00008
|
NM_003041.4(SLC5A2):c.*70C>G
|
rs867270650
|
0.00008
|
NM_003041.4(SLC5A2):c.469-3A>T
|
rs369221516
|
0.00008
|
NM_003477.2(PDHX):c.-162C>A
|
rs759318998
|
0.00008
|
NM_003597.5(KLF11):c.608G>A (p.Gly203Glu)
|
rs145588324
|
0.00008
|
NM_004130.4(GYG1):c.610T>C (p.Phe204Leu)
|
rs567161281
|
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_005609.4(PYGM):c.1110G>A (p.Val370=)
|
rs372719040
|
0.00008
|
NM_005609.4(PYGM):c.1363G>A (p.Gly455Ser)
|
rs201042910
|
0.00008
|
NM_005908.4(MANBA):c.1916G>A (p.Arg639His)
|
rs536744758
|
0.00008
|
NM_005908.4(MANBA):c.2311G>T (p.Val771Phe)
|
rs201779762
|
0.00008
|
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=)
|
rs75852730
|
0.00008
|
NM_006516.4(SLC2A1):c.543C>T (p.Gly181=)
|
rs377674001
|
0.00008
|
NM_006755.2(TALDO1):c.-6C>T
|
rs762014857
|
0.00008
|
NM_006755.2(TALDO1):c.475C>G (p.Gln159Glu)
|
rs144914498
|
0.00008
|
NM_006859.4(LIAS):c.637A>G (p.Thr213Ala)
|
rs374709255
|
0.00008
|
NM_012203.2(GRHPR):c.543G>C (p.Leu181=)
|
rs370395134
|
0.00008
|
NM_012203.2(GRHPR):c.690C>A (p.Phe230Leu)
|
rs185747820
|
0.00008
|
NM_016042.4(EXOSC3):c.*611A>G
|
rs939514834
|
0.00008
|
NM_016219.5(MAN1B1):c.1738C>G (p.Pro580Ala)
|
rs200860565
|
0.00008
|
NM_017755.6(NSUN2):c.*202C>T
|
rs932103254
|
0.00008
|
NM_017755.6(NSUN2):c.*622T>A
|
rs757183970
|
0.00008
|
NM_031229.4(RBCK1):c.50G>A (p.Arg17Gln)
|
rs200757913
|
0.00008
|
NM_032808.7(LINGO1):c.70C>G (p.Gln24Glu)
|
rs772748227
|
0.00008
|
NM_053013.4(ENO3):c.1093dup (p.Trp365fs)
|
rs771868807
|
0.00008
|
NM_053013.4(ENO3):c.698C>T (p.Ala233Val)
|
rs142982636
|
0.00008
|
NM_138413.4(HOGA1):c.*550A>G
|
rs991121870
|
0.00008
|
NM_152419.3(HGSNAT):c.1145C>G (p.Ser382Cys)
|
rs201735532
|
0.00008
|
NM_152419.3(HGSNAT):c.479T>C (p.Val160Ala)
|
rs369469113
|
0.00008
|
NM_152419.3(HGSNAT):c.682C>A (p.Pro228Thr)
|
rs369975831
|
0.00008
|
NM_153281.2(HYAL1):c.-90C>T
|
rs886058694
|
0.00008
|
NM_153747.2(PIGC):c.812G>A (p.Arg271His)
|
rs370905635
|
0.00008
|
NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)
|
rs146525143
|
0.00007
|
NM_000035.4(ALDOB):c.*503T>C
|
rs954756064
|
0.00007
|
NM_000035.4(ALDOB):c.991C>T (p.Arg331Trp)
|
rs150407710
|
0.00007
|
NM_000046.5(ARSB):c.667A>G (p.Ile223Val)
|
rs367650121
|
0.00007
|
NM_000108.5(DLD):c.*1505C>T
|
rs1053262850
|
0.00007
|
NM_000147.5(FUCA1):c.1A>G (p.Met1Val)
|
rs558338123
|
0.00007
|
NM_000151.4(G6PC1):c.*680G>A
|
rs973632286
|
0.00007
|
NM_000152.5(GAA):c.1048G>A (p.Val350Met)
|
rs200412003
|
0.00007
|
NM_000152.5(GAA):c.1392G>C (p.Arg464Ser)
|
rs372786811
|
0.00007
|
NM_000152.5(GAA):c.1504A>G (p.Met502Val)
|
rs376067362
|
0.00007
|
NM_000152.5(GAA):c.658G>T (p.Val220Leu)
|
rs530478036
|
0.00007
|
NM_000152.5(GAA):c.857C>T (p.Thr286Met)
|
rs375310352
|
0.00007
|
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)
|
rs375690568
|
0.00007
|
NM_000158.4(GBE1):c.467G>A (p.Arg156His)
|
rs374404487
|
0.00007
|
NM_000199.5(SGSH):c.720C>T (p.Tyr240=)
|
rs367654527
|
0.00007
|
NM_000199.5(SGSH):c.781G>A (p.Gly261Ser)
|
rs149248428
|
0.00007
|
NM_000203.5(IDUA):c.1910C>T (p.Pro637Leu)
|
rs371369206
|
0.00007
|
NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn)
|
rs369102740
|
0.00007
|
NM_000263.4(NAGLU):c.593T>A (p.Phe198Tyr)
|
rs752264680
|
0.00007
|
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala)
|
rs104894030
|
0.00007
|
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe)
|
rs782668224
|
0.00007
|
NM_000292.3(PHKA2):c.1060G>A (p.Ala354Thr)
|
rs746875668
|
0.00007
|
NM_000292.3(PHKA2):c.2665G>A (p.Val889Ile)
|
rs199948654
|
0.00007
|
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)
|
rs145952475
|
0.00007
|
NM_000294.3(PHKG2):c.985C>T (p.Arg329Trp)
|
rs367711698
|
0.00007
|
NM_000298.6(PKLR):c.1379T>C (p.Val460Ala)
|
rs149946271
|
0.00007
|
NM_000308.4(CTSA):c.1088+5G>C
|
rs377189450
|
0.00007
|
NM_000308.4(CTSA):c.1409T>C (p.Met470Thr)
|
rs771327084
|
0.00007
|
NM_000308.4(CTSA):c.938T>C (p.Met313Thr)
|
rs759949142
|
0.00007
|
NM_000343.4(SLC5A1):c.1524C>T (p.Thr508=)
|
rs201895474
|
0.00007
|
NM_000352.3(ABCC8):c.-113G>A
|
rs886048056
|
0.00007
|
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_000404.4(GLB1):c.875C>G (p.Ser292Cys)
|
rs368139032
|
0.00007
|
NM_000525.4(KCNJ11):c.726C>T (p.Asn242=)
|
rs72554078
|
0.00007
|
NM_000528.4(MAN2B1):c.862A>G (p.Asn288Asp)
|
rs927024699
|
0.00007
|
NM_000545.8(HNF1A):c.341G>A (p.Arg114His)
|
rs139016696
|
0.00007
|
NM_000545.8(HNF1A):c.42G>A (p.Ala14=)
|
rs775391034
|
0.00007
|
NM_000642.3(AGL):c.*292A>G
|
rs541731841
|
0.00007
|
NM_000642.3(AGL):c.*400T>C
|
rs541803127
|
0.00007
|
NM_000642.3(AGL):c.1480C>T (p.Arg494Cys)
|
rs199660743
|
0.00007
|
NM_000642.3(AGL):c.2729G>A (p.Arg910Gln)
|
rs369044372
|
0.00007
|
NM_000642.3(AGL):c.3419T>G (p.Leu1140Arg)
|
rs568139822
|
0.00007
|
NM_000642.3(AGL):c.3668G>A (p.Gly1223Asp)
|
rs202046937
|
0.00007
|
NM_000642.3(AGL):c.4271A>T (p.Tyr1424Phe)
|
rs779560460
|
0.00007
|
NM_000642.3(AGL):c.846+8T>A
|
rs372517543
|
0.00007
|
NM_000891.3(KCNJ2):c.*2616A>G
|
rs542407766
|
0.00007
|
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile)
|
rs147750704
|
0.00007
|
NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys)
|
rs202067116
|
0.00007
|
NM_000925.4(PDHB):c.-4C>T
|
rs778465584
|
0.00007
|
NM_000925.4(PDHB):c.477A>C (p.Ser159=)
|
rs569429778
|
0.00007
|
NM_001040716.2(PC):c.1409A>G (p.Gln470Arg)
|
rs940286072
|
0.00007
|
NM_001040716.2(PC):c.50G>A (p.Arg17His)
|
rs375282341
|
0.00007
|
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys)
|
rs11552539
|
0.00007
|
NM_001243177.4(ALDOA):c.223C>T (p.His75Tyr)
|
rs766734350
|
0.00007
|
NM_001243177.4(ALDOA):c.926C>T (p.Thr309Ile)
|
rs368207656
|
0.00007
|
NM_001352514.2(HLCS):c.*2416C>T
|
rs566088233
|
0.00007
|
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile)
|
rs145648338
|
0.00007
|
NM_001370658.1(BTD):c.-65G>T
|
rs199516128
|
0.00007
|
NM_001739.2(CA5A):c.629C>T (p.Ala210Val)
|
rs377314096
|
0.00007
|
NM_002076.4(GNS):c.539A>G (p.Lys180Arg)
|
rs745307029
|
0.00007
|
NM_002103.5(GYS1):c.1436C>T (p.Pro479Leu)
|
rs144681053
|
0.00007
|
NM_002294.3(LAMP2):c.*1191A>T
|
rs1004327482
|
0.00007
|
NM_002294.3(LAMP2):c.*4004C>T
|
rs1001857275
|
0.00007
|
NM_002294.3(LAMP2):c.*4006G>T
|
rs905784906
|
0.00007
|
NM_002294.3(LAMP2):c.515T>C (p.Leu172Pro)
|
rs371174243
|
0.00007
|
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser)
|
rs397516747
|
0.00007
|
NM_002300.8(LDHB):c.130-8G>A
|
rs369064312
|
0.00007
|
NM_002500.5(NEUROD1):c.1013G>C (p.Ser338Thr)
|
rs767837260
|
0.00007
|
NM_002637.4(PHKA1):c.1151A>G (p.Tyr384Cys)
|
rs782509826
|
0.00007
|
NM_002637.4(PHKA1):c.1592A>T (p.Tyr531Phe)
|
rs781878909
|
0.00007
|
NM_002637.4(PHKA1):c.1964G>A (p.Arg655His)
|
rs782528091
|
0.00007
|
NM_002863.5(PYGL):c.1092+11T>G
|
rs781337096
|
0.00007
|
NM_003041.4(SLC5A2):c.1455C>T (p.Ala485=)
|
rs201859484
|
0.00007
|
NM_003477.2(PDHX):c.-155G>A
|
rs886048246
|
0.00007
|
NM_003597.5(KLF11):c.*1301C>G
|
rs886054731
|
0.00007
|
NM_003597.5(KLF11):c.*217G>T
|
rs201145049
|
0.00007
|
NM_003597.5(KLF11):c.266C>T (p.Ala89Val)
|
rs766187124
|
0.00007
|
NM_003619.4(PRSS12):c.*1660T>C
|
rs372099887
|
0.00007
|
NM_003619.4(PRSS12):c.936C>T (p.Ala312=)
|
rs12505679
|
0.00007
|
NM_003805.5(CRADD):c.497G>A (p.Arg166His)
|
rs746685035
|
0.00007
|
NM_005609.4(PYGM):c.1342G>A (p.Ala448Thr)
|
rs749358752
|
0.00007
|
NM_005609.4(PYGM):c.2182A>G (p.Asn728Asp)
|
rs200058475
|
0.00007
|
NM_006516.2(SLC2A1):c.-510G>C
|
rs886046347
|
0.00007
|
NM_006516.4(SLC2A1):c.*560T>C
|
rs545613558
|
0.00007
|
NM_006516.4(SLC2A1):c.*609G>C
|
rs1020397288
|
0.00007
|
NM_006755.2(TALDO1):c.971G>A (p.Arg324Gln)
|
rs186015859
|
0.00007
|
NM_012434.5(SLC17A5):c.1316T>C (p.Val439Ala)
|
rs573439155
|
0.00007
|
NM_016203.4(PRKAG2):c.704T>G (p.Leu235Arg)
|
rs751094298
|
0.00007
|
NM_016219.5(MAN1B1):c.1065+11T>C
|
rs200147487
|
0.00007
|
NM_017721.5(CC2D1A):c.1966G>A (p.Asp656Asn)
|
rs775641463
|
0.00007
|
NM_017721.5(CC2D1A):c.460G>A (p.Ala154Thr)
|
rs202025962
|
0.00007
|
NM_024989.4(PGAP1):c.1475A>G (p.Asn492Ser)
|
rs199809707
|
0.00007
|
NM_024989.4(PGAP1):c.2197C>T (p.Pro733Ser)
|
rs753237558
|
0.00007
|
NM_031229.4(RBCK1):c.226C>T (p.Arg76Cys)
|
rs575392530
|
0.00007
|
NM_031229.4(RBCK1):c.28G>C (p.Glu10Gln)
|
rs376438608
|
0.00007
|
NM_053013.4(ENO3):c.1235+7C>T
|
rs759839410
|
0.00007
|
NM_053013.4(ENO3):c.760A>C (p.Asn254His)
|
rs561878819
|
0.00007
|
NM_138413.4(HOGA1):c.*186C>T
|
rs576078709
|
0.00007
|
NM_138501.6(TECR):c.262G>T (p.Val88Leu)
|
rs753690636
|
0.00007
|
NM_152419.3(HGSNAT):c.*1215C>T
|
rs571287184
|
0.00007
|
NM_152419.3(HGSNAT):c.*1854C>T
|
rs567024411
|
0.00007
|
NM_152419.3(HGSNAT):c.*851A>G
|
rs192792114
|
0.00007
|
NM_175914.5(HNF4A):c.*3018G>A
|
rs533361991
|
0.00007
|
NM_198586.3(NHLRC1):c.*797A>G
|
rs886061250
|
0.00007
|
NM_000027.4(AGA):c.*207T>C
|
rs546644917
|
0.00006
|
NM_000027.4(AGA):c.523C>T (p.Pro175Ser)
|
rs367968495
|
0.00006
|
NM_000027.4(AGA):c.623-13T>G
|
rs778434616
|
0.00006
|
NM_000027.4(AGA):c.794G>A (p.Arg265His)
|
rs375663828
|
0.00006
|
NM_000030.3(AGXT):c.*160G>A
|
rs776483024
|
0.00006
|
NM_000030.3(AGXT):c.214A>C (p.Asn72His)
|
rs754637713
|
0.00006
|
NM_000030.3(AGXT):c.352C>T (p.Arg118Cys)
|
rs376844297
|
0.00006
|
NM_000030.3(AGXT):c.82C>T (p.Pro28Ser)
|
rs376684240
|
0.00006
|
NM_000035.4(ALDOB):c.1027T>C (p.Tyr343His)
|
rs369586696
|
0.00006
|
NM_000035.4(ALDOB):c.226G>A (p.Gly76Ser)
|
rs759204107
|
0.00006
|
NM_000035.4(ALDOB):c.849C>T (p.Asn283=)
|
rs202062631
|
0.00006
|
NM_000046.5(ARSB):c.*1513C>T
|
rs886060786
|
0.00006
|
NM_000046.5(ARSB):c.*2287C>T
|
rs886060782
|
0.00006
|
NM_000046.5(ARSB):c.*2684G>A
|
rs188859845
|
0.00006
|
NM_000046.5(ARSB):c.*635C>G
|
rs534480571
|
0.00006
|
NM_000046.5(ARSB):c.1534G>A (p.Val512Met)
|
rs201928777
|
0.00006
|
NM_000046.5(ARSB):c.550A>G (p.Ile184Val)
|
rs371812342
|
0.00006
|
NM_000108.5(DLD):c.1492A>C (p.Asn498His)
|
rs564889609
|
0.00006
|
NM_000108.5(DLD):c.508G>A (p.Gly170Ser)
|
rs567286177
|
0.00006
|
NM_000151.4(G6PC1):c.*119C>T
|
rs886052957
|
0.00006
|
NM_000151.4(G6PC1):c.*2311C>T
|
rs372226654
|
0.00006
|
NM_000151.4(G6PC1):c.*607G>A
|
rs886052960
|
0.00006
|
NM_000151.4(G6PC1):c.18T>C (p.Asn6=)
|
rs144652516
|
0.00006
|
NM_000151.4(G6PC1):c.193G>T (p.Ala65Ser)
|
rs369472089
|
0.00006
|
NM_000152.5(GAA):c.1124G>A (p.Arg375His)
|
rs142752477
|
0.00006
|
NM_000152.5(GAA):c.1188C>G (p.Phe396Leu)
|
rs756126944
|
0.00006
|
NM_000152.5(GAA):c.1195-15G>A
|
rs373840229
|
0.00006
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
NM_000152.5(GAA):c.1819G>A (p.Gly607Ser)
|
rs940955642
|
0.00006
|
NM_000152.5(GAA):c.1823G>A (p.Arg608Gln)
|
rs377126280
|
0.00006
|
NM_000152.5(GAA):c.197G>A (p.Arg66Gln)
|
rs200202628
|
0.00006
|
NM_000152.5(GAA):c.2051C>T (p.Pro684Leu)
|
rs147327209
|
0.00006
|
NM_000152.5(GAA):c.2456G>A (p.Arg819Gln)
|
rs374687883
|
0.00006
|
NM_000152.5(GAA):c.266G>A (p.Arg89His)
|
rs200586324
|
0.00006
|
NM_000152.5(GAA):c.2800-11C>G
|
rs374571499
|
0.00006
|
NM_000152.5(GAA):c.359C>G (p.Ala120Gly)
|
rs779208773
|
0.00006
|
NM_000152.5(GAA):c.420C>A (p.Asn140Lys)
|
rs560661191
|
0.00006
|
NM_000152.5(GAA):c.43G>A (p.Val15Ile)
|
rs772157487
|
0.00006
|
NM_000152.5(GAA):c.55G>A (p.Val19Met)
|
rs200343198
|
0.00006
|
NM_000152.5(GAA):c.655G>A (p.Gly219Arg)
|
rs370950728
|
0.00006
|
NM_000152.5(GAA):c.761C>T (p.Ser254Leu)
|
rs577915581
|
0.00006
|
NM_000152.5(GAA):c.862G>A (p.Gly288Ser)
|
rs200125735
|
0.00006
|
NM_000154.2(GALK1):c.165+6G>A
|
rs779996721
|
0.00006
|
NM_000154.2(GALK1):c.267G>T (p.Gln89His)
|
rs144915547
|
0.00006
|
NM_000154.2(GALK1):c.742C>T (p.Arg248Trp)
|
rs541580127
|
0.00006
|
NM_000155.4(GALT):c.1128A>T (p.Ala376=)
|
rs781374930
|
0.00006
|
NM_000155.4(GALT):c.211C>T (p.Leu71Phe)
|
rs143994870
|
0.00006
|
NM_000158.4(GBE1):c.*460C>T
|
rs771301034
|
0.00006
|
NM_000158.4(GBE1):c.*558T>C
|
rs886058899
|
0.00006
|
NM_000158.4(GBE1):c.1283G>C (p.Gly428Ala)
|
rs756129254
|
0.00006
|
NM_000158.4(GBE1):c.1406A>G (p.Tyr469Cys)
|
rs760661724
|
0.00006
|
NM_000158.4(GBE1):c.1988T>C (p.Leu663Pro)
|
rs761908536
|
0.00006
|
NM_000158.4(GBE1):c.2035C>T (p.Arg679Cys)
|
rs202158511
|
0.00006
|
NM_000158.4(GBE1):c.527T>A (p.Ile176Lys)
|
rs571116428
|
0.00006
|
NM_000158.4(GBE1):c.555+1G>T
|
rs759707498
|
0.00006
|
NM_000158.4(GBE1):c.785G>A (p.Arg262His)
|
rs369574719
|
0.00006
|
NM_000162.5(GCK):c.363+10G>A
|
rs758495950
|
0.00006
|
NM_000175.5(GPI):c.1325C>T (p.Thr442Met)
|
rs758328180
|
0.00006
|
NM_000181.4(GUSB):c.1065C>T (p.Asp355=)
|
rs758070679
|
0.00006
|
NM_000181.4(GUSB):c.1213G>A (p.Asp405Asn)
|
rs200149500
|
0.00006
|
NM_000181.4(GUSB):c.871T>A (p.Tyr291Asn)
|
rs760452541
|
0.00006
|
NM_000199.5(SGSH):c.*834A>G
|
rs1022741298
|
0.00006
|
NM_000199.5(SGSH):c.1301C>T (p.Ala434Val)
|
rs76375023
|
0.00006
|
NM_000199.5(SGSH):c.1302G>A (p.Ala434=)
|
rs376787615
|
0.00006
|
NM_000199.5(SGSH):c.1364C>T (p.Pro455Leu)
|
rs766272590
|
0.00006
|
NM_000199.5(SGSH):c.1462G>A (p.Glu488Lys)
|
rs145645179
|
0.00006
|
NM_000199.5(SGSH):c.432C>T (p.Ser144=)
|
rs200194908
|
0.00006
|
NM_000202.8(IDS):c.950C>A (p.Ala317Asp)
|
rs374576277
|
0.00006
|
NM_000203.5(IDUA):c.1001T>G (p.Leu334Arg)
|
rs753372554
|
0.00006
|
NM_000203.5(IDUA):c.1339C>T (p.Arg447Cys)
|
rs866224971
|
0.00006
|
NM_000203.5(IDUA):c.1800G>A (p.Ser600=)
|
rs763047621
|
0.00006
|
NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)
|
rs752337969
|
0.00006
|
NM_000203.5(IDUA):c.981G>T (p.Ala327=)
|
rs372379342
|
0.00006
|
NM_000207.3(INS):c.*2C>T
|
rs200306755
|
0.00006
|
NM_000207.3(INS):c.*42C>T
|
rs376867722
|
0.00006
|
NM_000208.4(INSR):c.1628C>T (p.Thr543Met)
|
rs767160876
|
0.00006
|
NM_000262.3(NAGA):c.*1501C>G
|
rs750373836
|
0.00006
|
NM_000262.3(NAGA):c.*55C>T
|
rs1004630693
|
0.00006
|
NM_000262.3(NAGA):c.103C>T (p.Arg35Cys)
|
rs376933189
|
0.00006
|
NM_000262.3(NAGA):c.983T>C (p.Met328Thr)
|
rs140356002
|
0.00006
|
NM_000263.4(NAGLU):c.1192C>A (p.Gln398Lys)
|
rs553293896
|
0.00006
|
NM_000263.4(NAGLU):c.1272C>T (p.Asn424=)
|
rs200715586
|
0.00006
|
NM_000284.4(PDHA1):c.*1347C>T
|
rs1241045421
|
0.00006
|
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)
|
rs768396832
|
0.00006
|
NM_000289.6(PFKM):c.1060G>A (p.Val354Met)
|
rs930337550
|
0.00006
|
NM_000289.6(PFKM):c.2308A>G (p.Ile770Val)
|
rs950246136
|
0.00006
|
NM_000289.6(PFKM):c.857G>A (p.Arg286His)
|
rs768496070
|
0.00006
|
NM_000290.4(PGAM2):c.115A>C (p.Lys39Gln)
|
rs147126221
|
0.00006
|
NM_000290.4(PGAM2):c.148A>C (p.Met50Leu)
|
rs151308911
|
0.00006
|
NM_000290.4(PGAM2):c.256C>T (p.Arg86Cys)
|
rs371509257
|
0.00006
|
NM_000290.4(PGAM2):c.515T>G (p.Val172Gly)
|
rs370003298
|
0.00006
|
NM_000290.4(PGAM2):c.532G>A (p.Gly178Ser)
|
rs772187619
|
0.00006
|
NM_000290.4(PGAM2):c.755C>A (p.Ala252Asp)
|
rs752958758
|
0.00006
|
NM_000291.4(PGK1):c.1192G>A (p.Ala398Thr)
|
rs199644680
|
0.00006
|
NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn)
|
rs782165735
|
0.00006
|
NM_000292.3(PHKA2):c.1657T>C (p.Cys553Arg)
|
rs140703161
|
0.00006
|
NM_000292.3(PHKA2):c.2848G>A (p.Asp950Asn)
|
rs747153540
|
0.00006
|
NM_000293.3(PHKB):c.*1839C>G
|
rs981081630
|
0.00006
|
NM_000293.3(PHKB):c.*1915A>G
|
rs919228154
|
0.00006
|
NM_000293.3(PHKB):c.1114A>G (p.Met372Val)
|
rs758968989
|
0.00006
|
NM_000293.3(PHKB):c.1544T>C (p.Ile515Thr)
|
rs141224055
|
0.00006
|
NM_000293.3(PHKB):c.2136G>A (p.Pro712=)
|
rs200274360
|
0.00006
|
NM_000293.3(PHKB):c.2882A>T (p.Lys961Met)
|
rs371541668
|
0.00006
|
NM_000293.3(PHKB):c.445C>T (p.Leu149Phe)
|
rs370363309
|
0.00006
|
NM_000294.3(PHKG2):c.318G>T (p.Val106=)
|
rs199743139
|
0.00006
|
NM_000294.3(PHKG2):c.353A>G (p.Tyr118Cys)
|
rs370423261
|
0.00006
|
NM_000308.4(CTSA):c.769G>A (p.Val257Met)
|
rs745752655
|
0.00006
|
NM_000308.4(CTSA):c.934C>T (p.Arg312Trp)
|
rs368697828
|
0.00006
|
NM_000343.4(SLC5A1):c.*1053G>A
|
rs376345201
|
0.00006
|
NM_000343.4(SLC5A1):c.*1559C>T
|
rs372572143
|
0.00006
|
NM_000343.4(SLC5A1):c.1012C>G (p.Leu338Val)
|
rs201216997
|
0.00006
|
NM_000343.4(SLC5A1):c.1618A>G (p.Thr540Ala)
|
rs200105476
|
0.00006
|
NM_000343.4(SLC5A1):c.34G>A (p.Ala12Thr)
|
rs202189110
|
0.00006
|
NM_000352.6(ABCC8):c.1368C>T (p.Leu456=)
|
rs775001123
|
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.2389C>T (p.Arg797Trp)
|
rs142620721
|
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.3976G>A (p.Glu1326Lys)
|
rs200563930
|
0.00006
|
NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=)
|
rs373478721
|
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_000365.6(TPI1):c.*253G>T
|
rs782730165
|
0.00006
|
NM_000404.4(GLB1):c.*44C>T
|
rs199659949
|
0.00006
|
NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln)
|
rs780634117
|
0.00006
|
NM_000404.4(GLB1):c.616C>T (p.Arg206Cys)
|
rs766214522
|
0.00006
|
NM_000458.4(HNF1B):c.*701G>A
|
rs886052888
|
0.00006
|
NM_000458.4(HNF1B):c.36C>T (p.Leu12=)
|
rs749370057
|
0.00006
|
NM_000512.5(GALNS):c.1071G>A (p.Pro357=)
|
rs374619390
|
0.00006
|
NM_000512.5(GALNS):c.1186G>A (p.Gly396Arg)
|
rs371459975
|
0.00006
|
NM_000512.5(GALNS):c.1269C>T (p.Asn423=)
|
rs148709901
|
0.00006
|
NM_000512.5(GALNS):c.1364+6T>A
|
rs377120480
|
0.00006
|
NM_000512.5(GALNS):c.665G>A (p.Arg222Gln)
|
rs140162658
|
0.00006
|
NM_000512.5(GALNS):c.887C>T (p.Ala296Val)
|
rs200371805
|
0.00006
|
NM_000512.5(GALNS):c.921G>T (p.Leu307=)
|
rs201986622
|
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_000528.4(MAN2B1):c.2007G>A (p.Pro669=)
|
rs762152042
|
0.00006
|
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)
|
rs80338681
|
0.00006
|
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)
|
rs754733253
|
0.00006
|
NM_000528.4(MAN2B1):c.2785C>T (p.Arg929Cys)
|
rs142248782
|
0.00006
|
NM_000545.8(HNF1A):c.1061C>T (p.Thr354Met)
|
rs757068809
|
0.00006
|
NM_000545.8(HNF1A):c.1729C>G (p.His577Asp)
|
rs376832928
|
0.00006
|
NM_000545.8(HNF1A):c.1849G>A (p.Val617Ile)
|
rs146855738
|
0.00006
|
NM_000545.8(HNF1A):c.954C>T (p.His318=)
|
rs193922607
|
0.00006
|
NM_000545.8(HNF1A):c.99G>A (p.Pro33=)
|
rs538619966
|
0.00006
|
NM_000642.3(AGL):c.*1075T>A
|
rs886044931
|
0.00006
|
NM_000642.3(AGL):c.*1952C>T
|
rs886044934
|
0.00006
|
NM_000642.3(AGL):c.*99del
|
rs886044923
|
0.00006
|
NM_000642.3(AGL):c.-95A>G
|
rs937844168
|
0.00006
|
NM_000642.3(AGL):c.1646A>G (p.Asn549Ser)
|
rs909008103
|
0.00006
|
NM_000642.3(AGL):c.1694A>G (p.Asn565Ser)
|
rs180768312
|
0.00006
|
NM_000642.3(AGL):c.188G>A (p.Arg63His)
|
rs199958942
|
0.00006
|
NM_000642.3(AGL):c.1933A>G (p.Thr645Ala)
|
rs576969969
|
0.00006
|
NM_000642.3(AGL):c.2222A>G (p.Gln741Arg)
|
rs773044002
|
0.00006
|
NM_000642.3(AGL):c.2308G>C (p.Gly770Arg)
|
rs149914040
|
0.00006
|
NM_000642.3(AGL):c.2486A>G (p.Asn829Ser)
|
rs199554089
|
0.00006
|
NM_000642.3(AGL):c.2607A>G (p.Gln869=)
|
rs747817359
|
0.00006
|
NM_000642.3(AGL):c.293+3A>G
|
rs375459662
|
0.00006
|
NM_000642.3(AGL):c.3133G>C (p.Val1045Leu)
|
rs747339245
|
0.00006
|
NM_000642.3(AGL):c.3985A>G (p.Arg1329Gly)
|
rs777095374
|
0.00006
|
NM_000642.3(AGL):c.4451T>G (p.Val1484Gly)
|
rs774708890
|
0.00006
|
NM_000642.3(AGL):c.609A>G (p.Lys203=)
|
rs186709388
|
0.00006
|
NM_000642.3(AGL):c.847-7T>A
|
rs750785301
|
0.00006
|
NM_000891.3(KCNJ2):c.*2065A>G
|
rs778894111
|
0.00006
|
NM_000891.3(KCNJ2):c.*3353C>T
|
rs886053346
|
0.00006
|
NM_000925.4(PDHB):c.*173C>T
|
rs546485141
|
0.00006
|
NM_000925.4(PDHB):c.38G>A (p.Arg13Gln)
|
rs202185395
|
0.00006
|
NM_000925.4(PDHB):c.937C>G (p.Pro313Ala)
|
rs201105914
|
0.00006
|
NM_001008216.2(GALE):c.760G>A (p.Ala254Thr)
|
rs926654478
|
0.00006
|
NM_001014436.3(DBNL):c.*2021C>T
|
rs372222997
|
0.00006
|
NM_001040616.3(LINS1):c.1481T>C (p.Ile494Thr)
|
rs772460402
|
0.00006
|
NM_001040716.2(PC):c.1512C>T (p.Leu504=)
|
rs763298490
|
0.00006
|
NM_001040716.2(PC):c.1589C>T (p.Pro530Leu)
|
rs370248734
|
0.00006
|
NM_001041.4(SI):c.4873T>G (p.Phe1625Val)
|
rs149414344
|
0.00006
|
NM_001041.4(SI):c.748C>T (p.Arg250Cys)
|
rs200745562
|
0.00006
|
NM_001164277.2(SLC37A4):c.1073C>T (p.Pro358Leu)
|
rs782025581
|
0.00006
|
NM_001164277.2(SLC37A4):c.1125-7_1125-6del
|
rs782342989
|
0.00006
|
NM_001164277.2(SLC37A4):c.377G>A (p.Arg126Gln)
|
rs78735156
|
0.00006
|
NM_001243177.4(ALDOA):c.1107C>T (p.Gly369=)
|
rs142315181
|
0.00006
|
NM_001243177.4(ALDOA):c.382A>C (p.Ile128Leu)
|
rs747788394
|
0.00006
|
NM_001352514.2(HLCS):c.*168G>T
|
rs118099059
|
0.00006
|
NM_001352514.2(HLCS):c.*3253C>T
|
rs529403596
|
0.00006
|
NM_001352514.2(HLCS):c.1278G>A (p.Glu426=)
|
rs548505968
|
0.00006
|
NM_001352514.2(HLCS):c.2352C>T (p.Ile784=)
|
rs150263699
|
0.00006
|
NM_001352514.2(HLCS):c.988C>T (p.Arg330Trp)
|
rs150431185
|
0.00006
|
NM_001360016.2(G6PD):c.1021G>A (p.Val341Ile)
|
rs782174983
|
0.00006
|
NM_001366110.1(PAX4):c.572G>A (p.Arg191His)
|
rs145284016
|
0.00006
|
NM_001370658.1(BTD):c.1225G>A (p.Glu409Lys)
|
rs770633850
|
0.00006
|
NM_001543.5(NDST1):c.1690G>C (p.Val564Leu)
|
rs774976739
|
0.00006
|
NM_001715.3(BLK):c.*324G>A
|
rs886062600
|
0.00006
|
NM_001739.2(CA5A):c.253G>T (p.Val85Phe)
|
rs138938647
|
0.00006
|
NM_001739.2(CA5A):c.543C>T (p.Gly181=)
|
rs534860826
|
0.00006
|
NM_001739.2(CA5A):c.763G>A (p.Ala255Thr)
|
rs756854770
|
0.00006
|
NM_001931.5(DLAT):c.583C>T (p.Pro195Ser)
|
rs149440666
|
0.00006
|
NM_002076.4(GNS):c.876-13T>C
|
rs543570530
|
0.00006
|
NM_002103.4(GYS1):c.-199T>C
|
rs770497351
|
0.00006
|
NM_002103.5(GYS1):c.*1044T>G
|
rs886054564
|
0.00006
|
NM_002103.5(GYS1):c.*659C>T
|
rs367578611
|
0.00006
|
NM_002103.5(GYS1):c.1078C>A (p.Gln360Lys)
|
rs1003071543
|
0.00006
|
NM_002103.5(GYS1):c.1332C>T (p.Cys444=)
|
rs377125421
|
0.00006
|
NM_002103.5(GYS1):c.2065C>T (p.Arg689Cys)
|
rs994882983
|
0.00006
|
NM_002294.3(LAMP2):c.*3689T>C
|
rs975386272
|
0.00006
|
NM_002294.3(LAMP2):c.*721A>C
|
rs887326511
|
0.00006
|
NM_002294.3(LAMP2):c.443A>G (p.Asn148Ser)
|
rs766491800
|
0.00006
|
NM_002299.4(LCT):c.1396G>T (p.Gly466Trp)
|
rs377102890
|
0.00006
|
NM_002299.4(LCT):c.4760G>A (p.Arg1587His)
|
rs146614143
|
0.00006
|
NM_002299.4(LCT):c.4761C>T (p.Arg1587=)
|
rs573401319
|
0.00006
|
NM_002300.8(LDHB):c.585C>T (p.Gly195=)
|
rs141629567
|
0.00006
|
NM_002500.5(NEUROD1):c.*907T>C
|
rs747758950
|
0.00006
|
NM_002591.4(PCK1):c.228G>T (p.Trp76Cys)
|
rs139008325
|
0.00006
|
NM_002591.4(PCK1):c.651G>A (p.Thr217=)
|
rs777897405
|
0.00006
|
NM_002637.4(PHKA1):c.*1151C>T
|
rs782605900
|
0.00006
|
NM_002637.4(PHKA1):c.1714G>A (p.Asp572Asn)
|
rs113352627
|
0.00006
|
NM_002637.4(PHKA1):c.2339C>T (p.Ala780Val)
|
rs782403774
|
0.00006
|
NM_002637.4(PHKA1):c.3149G>A (p.Arg1050His)
|
rs782453258
|
0.00006
|
NM_002863.5(PYGL):c.1617G>A (p.Lys539=)
|
rs17721570
|
0.00006
|
NM_002863.5(PYGL):c.2467C>T (p.Gln823Ter)
|
rs756205397
|
0.00006
|
NM_003041.4(SLC5A2):c.1154T>C (p.Val385Ala)
|
rs371605092
|
0.00006
|
NM_003051.4(SLC16A1):c.*946G>A
|
rs867810008
|
0.00006
|
NM_003384.3(VRK1):c.*107A>G
|
rs375987917
|
0.00006
|
NM_003384.3(VRK1):c.161-3C>T
|
rs746546400
|
0.00006
|
NM_003384.3(VRK1):c.701A>G (p.Asn234Ser)
|
rs369310409
|
0.00006
|
NM_003477.3(PDHX):c.970A>G (p.Ile324Val)
|
rs768103465
|
0.00006
|
NM_003597.5(KLF11):c.1137C>G (p.Ser379Arg)
|
rs199624763
|
0.00006
|
NM_003597.5(KLF11):c.673A>C (p.Ser225Arg)
|
rs200061013
|
0.00006
|
NM_004130.4(GYG1):c.130T>C (p.Ser44Pro)
|
rs527407055
|
0.00006
|
NM_004130.4(GYG1):c.175A>G (p.Ile59Val)
|
rs535548906
|
0.00006
|
NM_004130.4(GYG1):c.67G>C (p.Gly23Arg)
|
rs148083274
|
0.00006
|
NM_004130.4(GYG1):c.683C>T (p.Thr228Ile)
|
rs201672568
|
0.00006
|
NM_004130.4(GYG1):c.700G>A (p.Glu234Lys)
|
rs372805607
|
0.00006
|
NM_004830.4(MED23):c.367C>T (p.Arg123Trp)
|
rs374403178
|
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_005566.4(LDHA):c.*311C>T
|
rs200079157
|
0.00006
|
NM_005566.4(LDHA):c.406G>A (p.Val136Ile)
|
rs184074326
|
0.00006
|
NM_005609.4(PYGM):c.1239+12G>A
|
rs760471706
|
0.00006
|
NM_005609.4(PYGM):c.1357G>A (p.Val453Ile)
|
rs151213354
|
0.00006
|
NM_005609.4(PYGM):c.1436A>G (p.Lys479Arg)
|
rs750032282
|
0.00006
|
NM_005609.4(PYGM):c.1913G>T (p.Gly638Val)
|
rs776881451
|
0.00006
|
NM_005609.4(PYGM):c.2199C>T (p.Tyr733=)
|
rs140102591
|
0.00006
|
NM_005609.4(PYGM):c.502A>C (p.Asn168His)
|
rs760531401
|
0.00006
|
NM_005609.4(PYGM):c.661-599G>T
|
rs963364351
|
0.00006
|
NM_005609.4(PYGM):c.832C>T (p.Arg278Cys)
|
rs762779955
|
0.00006
|
NM_005908.4(MANBA):c.1922G>A (p.Arg641His)
|
rs569997475
|
0.00006
|
NM_005908.4(MANBA):c.418A>G (p.Ile140Val)
|
rs572164146
|
0.00006
|
NM_006488.3(KHK):c.-97G>A
|
rs886055885
|
0.00006
|
NM_006488.3(KHK):c.210-199T>C
|
rs201650300
|
0.00006
|
NM_006488.3(KHK):c.210-334C>T
|
rs368871098
|
0.00006
|
NM_006488.3(KHK):c.687C>T (p.Gly229=)
|
rs142428157
|
0.00006
|
NM_006488.3(KHK):c.688G>A (p.Ala230Thr)
|
rs745997707
|
0.00006
|
NM_006516.4(SLC2A1):c.*750T>A
|
rs886046336
|
0.00006
|
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr)
|
rs141619735
|
0.00006
|
NM_006516.4(SLC2A1):c.18+12G>T
|
rs587781171
|
0.00006
|
NM_006516.4(SLC2A1):c.188C>T (p.Thr63Met)
|
rs200828053
|
0.00006
|
NM_006721.4(ADK):c.66-23885T>A
|
rs370191448
|
0.00006
|
NM_006721.4(ADK):c.66-23966T>C
|
rs886047235
|
0.00006
|
NM_006755.2(TALDO1):c.*12G>A
|
rs369845141
|
0.00006
|
NM_006755.2(TALDO1):c.604G>A (p.Asp202Asn)
|
rs140985565
|
0.00006
|
NM_006765.4(TUSC3):c.25C>G (p.Arg9Gly)
|
rs755808199
|
0.00006
|
NM_006859.4(LIAS):c.108G>T (p.Lys36Asn)
|
rs199942447
|
0.00006
|
NM_006859.4(LIAS):c.751C>T (p.Pro251Ser)
|
rs146513468
|
0.00006
|
NM_006859.4(LIAS):c.80C>T (p.Pro27Leu)
|
rs369125654
|
0.00006
|
NM_012434.5(SLC17A5):c.*1692G>A
|
rs540786941
|
0.00006
|
NM_012434.5(SLC17A5):c.1148G>C (p.Gly383Ala)
|
rs372477546
|
0.00006
|
NM_014806.5(RUSC2):c.737G>A (p.Gly246Glu)
|
rs894040978
|
0.00006
|
NM_016203.4(PRKAG2):c.182G>A (p.Arg61Gln)
|
rs564358410
|
0.00006
|
NM_016219.5(MAN1B1):c.*113G>A
|
rs762819985
|
0.00006
|
NM_016219.5(MAN1B1):c.*86C>T
|
rs771691552
|
0.00006
|
NM_016219.5(MAN1B1):c.1724A>G (p.Asn575Ser)
|
rs375378489
|
0.00006
|
NM_016219.5(MAN1B1):c.1765-9C>T
|
rs977693376
|
0.00006
|
NM_016219.5(MAN1B1):c.1828G>A (p.Val610Ile)
|
rs143449562
|
0.00006
|
NM_016219.5(MAN1B1):c.874A>G (p.Ile292Val)
|
rs573043401
|
0.00006
|
NM_017999.5(RNF31):c.2311G>A (p.Glu771Lys)
|
rs142436858
|
0.00006
|
NM_018297.4(NGLY1):c.1469C>T (p.Ser490Phe)
|
rs144262689
|
0.00006
|
NM_020066.5(FMN2):c.3560C>T (p.Pro1187Leu)
|
rs372947608
|
0.00006
|
NM_021957.4(GYS2):c.1880C>T (p.Ser627Leu)
|
rs182582633
|
0.00006
|
NM_022895.3(C12orf43):c.*2570C>G
|
rs868177605
|
0.00006
|
NM_031229.4(RBCK1):c.1029G>A (p.Ala343=)
|
rs201470953
|
0.00006
|
NM_031229.4(RBCK1):c.1333A>G (p.Met445Val)
|
rs372983302
|
0.00006
|
NM_031229.4(RBCK1):c.1520A>G (p.Gln507Arg)
|
rs969675403
|
0.00006
|
NM_031229.4(RBCK1):c.358C>T (p.Arg120Trp)
|
rs774464341
|
0.00006
|
NM_031229.4(RBCK1):c.5A>G (p.Asp2Gly)
|
rs763445513
|
0.00006
|
NM_031229.4(RBCK1):c.839C>T (p.Ala280Val)
|
rs1331848000
|
0.00006
|
NM_031229.4(RBCK1):c.956C>T (p.Ala319Val)
|
rs1199811720
|
0.00006
|
NM_031229.4(RBCK1):c.992C>T (p.Ser331Leu)
|
rs781592121
|
0.00006
|
NM_033159.4(HYAL1):c.1256G>A (p.Arg419Gln)
|
rs374011925
|
0.00006
|
NM_033159.4(HYAL1):c.587G>A (p.Arg196His)
|
rs782200654
|
0.00006
|
NM_053013.4(ENO3):c.166C>T (p.Arg56Cys)
|
rs139073445
|
0.00006
|
NM_053013.4(ENO3):c.926_929dup (p.Val311fs)
|
rs751624358
|
0.00006
|
NM_080749.4(NEURL2):c.-64C>T
|
rs566739434
|
0.00006
|
NM_138413.4(HOGA1):c.424C>T (p.Arg142Cys)
|
rs201450556
|
0.00006
|
NM_138413.4(HOGA1):c.828C>T (p.Asn276=)
|
rs201683794
|
0.00006
|
NM_144563.3(RPIA):c.*15G>A
|
rs375899017
|
0.00006
|
NM_144563.3(RPIA):c.706G>A (p.Val236Met)
|
rs752477415
|
0.00006
|
NM_152419.3(HGSNAT):c.*1064A>G
|
rs886062958
|
0.00006
|
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp)
|
rs371469177
|
0.00006
|
NM_152419.3(HGSNAT):c.1687G>A (p.Val563Met)
|
rs761054871
|
0.00006
|
NM_152419.3(HGSNAT):c.616G>A (p.Asp206Asn)
|
rs367799225
|
0.00006
|
NM_152419.3(HGSNAT):c.704C>T (p.Ala235Val)
|
rs777641646
|
0.00006
|
NM_152419.3(HGSNAT):c.721C>T (p.Arg241Cys)
|
rs564435701
|
0.00006
|
NM_175914.5(HNF4A):c.*1821C>T
|
rs886056686
|
0.00006
|
NM_175914.5(HNF4A):c.321C>T (p.Ala107=)
|
rs138290205
|
0.00006
|
NM_175914.5(HNF4A):c.361A>G (p.Ser121Gly)
|
rs193922472
|
0.00006
|
NM_175914.5(HNF4A):c.381G>A (p.Leu127=)
|
rs193922473
|
0.00006
|
NM_175914.5(HNF4A):c.624C>T (p.Leu208=)
|
rs759084238
|
0.00006
|
NM_198586.3(NHLRC1):c.740C>T (p.Ala247Val)
|
rs367906378
|
0.00006
|
NM_198586.3(NHLRC1):c.805G>A (p.Val269Met)
|
rs140164729
|
0.00006
|
NM_000046.5(ARSB):c.1450A>G (p.Arg484Gly)
|
rs201101343
|
0.00005
|
NM_000046.5(ARSB):c.475C>T (p.Arg159Cys)
|
rs202134230
|
0.00005
|
NM_000147.5(FUCA1):c.1178C>T (p.Ser393Leu)
|
rs149168482
|
0.00005
|
NM_000147.5(FUCA1):c.37C>T (p.Pro13Ser)
|
rs569701574
|
0.00005
|
NM_000147.5(FUCA1):c.936G>A (p.Leu312=)
|
rs140932886
|
0.00005
|
NM_000151.4(G6PC1):c.*103C>T
|
rs1032152255
|
0.00005
|
NM_000151.4(G6PC1):c.*1313A>G
|
rs886052962
|
0.00005
|
NM_000151.4(G6PC1):c.82G>A (p.Asp28Asn)
|
rs750711451
|
0.00005
|
NM_000152.5(GAA):c.1409A>C (p.Asn470Thr)
|
rs144155165
|
0.00005
|
NM_000152.5(GAA):c.1639G>A (p.Val547Met)
|
rs751102729
|
0.00005
|
NM_000152.5(GAA):c.2092G>A (p.Ala698Thr)
|
rs367632754
|
0.00005
|
NM_000152.5(GAA):c.2408A>G (p.Gln803Arg)
|
rs142487534
|
0.00005
|
NM_000152.5(GAA):c.2418G>A (p.Thr806=)
|
rs371528938
|
0.00005
|
NM_000152.5(GAA):c.2481+15C>T
|
rs771155956
|
0.00005
|
NM_000152.5(GAA):c.2510G>A (p.Arg837His)
|
rs746095374
|
0.00005
|
NM_000152.5(GAA):c.2581G>A (p.Asp861Asn)
|
rs372604133
|
0.00005
|
NM_000152.5(GAA):c.2672G>A (p.Arg891His)
|
rs199524847
|
0.00005
|
NM_000152.5(GAA):c.2725G>A (p.Val909Met)
|
rs138407065
|
0.00005
|
NM_000152.5(GAA):c.510C>T (p.Asp170=)
|
rs564758226
|
0.00005
|
NM_000154.2(GALK1):c.1152C>T (p.Ala384=)
|
rs373041566
|
0.00005
|
NM_000154.2(GALK1):c.830G>A (p.Arg277Gln)
|
rs370029131
|
0.00005
|
NM_000154.2(GALK1):c.856C>T (p.Arg286Trp)
|
rs370987432
|
0.00005
|
NM_000154.2(GALK1):c.935G>A (p.Arg312His)
|
rs181526665
|
0.00005
|
NM_000155.4(GALT):c.611G>A (p.Arg204Gln)
|
rs111033740
|
0.00005
|
NM_000155.4(GALT):c.667C>T (p.Arg223Cys)
|
rs111033750
|
0.00005
|
NM_000158.4(GBE1):c.1392C>T (p.Leu464=)
|
rs563241317
|
0.00005
|
NM_000175.5(GPI):c.671C>T (p.Thr224Met)
|
rs61754634
|
0.00005
|
NM_000181.4(GUSB):c.211-8C>G
|
rs2293340
|
0.00005
|
NM_000181.4(GUSB):c.532C>A (p.Pro178Thr)
|
rs11559281
|
0.00005
|
NM_000199.5(SGSH):c.264G>A (p.Met88Ile)
|
rs1178488696
|
0.00005
|
NM_000203.5(IDUA):c.1728-9C>T
|
rs374775605
|
0.00005
|
NM_000203.5(IDUA):c.682C>T (p.Pro228Ser)
|
rs775641597
|
0.00005
|
NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp)
|
rs200921389
|
0.00005
|
NM_000263.4(NAGLU):c.1441C>T (p.Arg481Trp)
|
rs747529593
|
0.00005
|
NM_000263.4(NAGLU):c.1906G>A (p.Asp636Asn)
|
rs375068243
|
0.00005
|
NM_000263.4(NAGLU):c.750C>T (p.Pro250=)
|
rs539019626
|
0.00005
|
NM_000284.4(PDHA1):c.660C>T (p.Phe220=)
|
rs745607005
|
0.00005
|
NM_000289.6(PFKM):c.722A>G (p.Glu241Gly)
|
rs148544344
|
0.00005
|
NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly)
|
rs929302665
|
0.00005
|
NM_000291.4(PGK1):c.248T>C (p.Val83Ala)
|
rs138851144
|
0.00005
|
NM_000292.3(PHKA2):c.1618G>A (p.Val540Met)
|
rs368594655
|
0.00005
|
NM_000292.3(PHKA2):c.2137+5G>A
|
rs372314504
|
0.00005
|
NM_000292.3(PHKA2):c.4C>G (p.Arg2Gly)
|
rs140014925
|
0.00005
|
NM_000293.3(PHKB):c.*1709G>A
|
rs1007478681
|
0.00005
|
NM_000293.3(PHKB):c.1730C>T (p.Pro577Leu)
|
rs775984009
|
0.00005
|
NM_000293.3(PHKB):c.1972-7G>A
|
rs765332910
|
0.00005
|
NM_000294.3(PHKG2):c.556+5G>T
|
rs369684098
|
0.00005
|
NM_000298.6(PKLR):c.122G>A (p.Arg41Gln)
|
rs374805791
|
0.00005
|
NM_000298.6(PKLR):c.731G>A (p.Gly244Asp)
|
rs774192277
|
0.00005
|
NM_000340.2(SLC2A2):c.*726T>C
|
rs886058172
|
0.00005
|
NM_000343.4(SLC5A1):c.1054G>A (p.Glu352Lys)
|
rs200308405
|
0.00005
|
NM_000343.4(SLC5A1):c.549C>T (p.Leu183=)
|
rs376255565
|
0.00005
|
NM_000343.4(SLC5A1):c.624G>A (p.Thr208=)
|
rs144581584
|
0.00005
|
NM_000343.4(SLC5A1):c.89C>T (p.Ser30Phe)
|
rs201689857
|
0.00005
|
NM_000343.4(SLC5A1):c.928G>A (p.Val310Met)
|
rs200727862
|
0.00005
|
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.3073G>A (p.Val1025Ile)
|
rs771882862
|
0.00005
|
NM_000352.6(ABCC8):c.3996G>A (p.Ser1332=)
|
rs746146690
|
0.00005
|
NM_000352.6(ABCC8):c.4546-4G>A
|
rs770984647
|
0.00005
|
NM_000352.6(ABCC8):c.692G>C (p.Trp231Ser)
|
rs1057517139
|
0.00005
|
NM_000404.4(GLB1):c.1069-4A>G
|
rs781267265
|
0.00005
|
NM_000458.4(HNF1B):c.1654-4G>A
|
rs193922485
|
0.00005
|
NM_000512.5(GALNS):c.1286C>T (p.Thr429Ile)
|
rs768180795
|
0.00005
|
NM_000525.4(KCNJ11):c.894C>T (p.Thr298=)
|
rs933392379
|
0.00005
|
NM_000525.4(KCNJ11):c.903C>T (p.Arg301=)
|
rs200855007
|
0.00005
|
NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln)
|
rs543222535
|
0.00005
|
NM_000528.4(MAN2B1):c.2054T>C (p.Leu685Ser)
|
rs779966472
|
0.00005
|
NM_000545.8(HNF1A):c.1816G>A (p.Gly606Ser)
|
rs753972576
|
0.00005
|
NM_000642.3(AGL):c.*395C>T
|
rs886044925
|
0.00005
|
NM_000642.3(AGL):c.-104C>T
|
rs982037804
|
0.00005
|
NM_000642.3(AGL):c.1065G>A (p.Thr355=)
|
rs764914308
|
0.00005
|
NM_000642.3(AGL):c.261A>G (p.Gln87=)
|
rs370304606
|
0.00005
|
NM_000642.3(AGL):c.2935G>A (p.Gly979Arg)
|
rs752502818
|
0.00005
|
NM_000642.3(AGL):c.4300A>G (p.Asn1434Asp)
|
rs146154694
|
0.00005
|
NM_000891.3(KCNJ2):c.*709A>G
|
rs950748341
|
0.00005
|
NM_000891.3(KCNJ2):c.1222C>G (p.Leu408Val)
|
rs753757610
|
0.00005
|
NM_000891.3(KCNJ2):c.208G>T (p.Ala70Ser)
|
rs375605948
|
0.00005
|
NM_000925.4(PDHB):c.426A>G (p.Ile142Met)
|
rs151247980
|
0.00005
|
NM_000925.4(PDHB):c.448G>T (p.Ala150Ser)
|
rs139242990
|
0.00005
|
NM_001008216.2(GALE):c.506G>A (p.Arg169Gln)
|
rs140878602
|
0.00005
|
NM_001040716.2(PC):c.1233C>T (p.Ser411=)
|
rs747247743
|
0.00005
|
NM_001040716.2(PC):c.1368+11G>A
|
rs371731636
|
0.00005
|
NM_001040716.2(PC):c.1514-6C>T
|
rs745563711
|
0.00005
|
NM_001040716.2(PC):c.751+13G>A
|
rs374607634
|
0.00005
|
NM_001041.4(SI):c.1420T>C (p.Tyr474His)
|
rs771986263
|
0.00005
|
NM_001041.4(SI):c.2074C>T (p.Arg692Cys)
|
rs371618948
|
0.00005
|
NM_001041.4(SI):c.2380G>A (p.Gly794Ser)
|
rs138778317
|
0.00005
|
NM_001041.4(SI):c.2894G>A (p.Gly965Asp)
|
rs144419320
|
0.00005
|
NM_001041.4(SI):c.5300C>T (p.Thr1767Met)
|
rs199881454
|
0.00005
|
NM_001041.4(SI):c.627T>C (p.Gly209=)
|
rs370540330
|
0.00005
|
NM_001164277.2(SLC37A4):c.-64C>T
|
rs150026242
|
0.00005
|
NM_001164277.2(SLC37A4):c.631T>G (p.Leu211Val)
|
rs537115620
|
0.00005
|
NM_001164277.2(SLC37A4):c.80A>G (p.Asn27Ser)
|
rs782308530
|
0.00005
|
NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val)
|
rs782475284
|
0.00005
|
NM_001243177.4(ALDOA):c.375C>G (p.Asn125Lys)
|
rs146976414
|
0.00005
|
NM_001352514.2(HLCS):c.*1756C>T
|
rs748180401
|
0.00005
|
NM_001352514.2(HLCS):c.*1953A>G
|
rs767162730
|
0.00005
|
NM_001352514.2(HLCS):c.*2945C>T
|
rs71332549
|
0.00005
|
NM_001352514.2(HLCS):c.*490C>T
|
rs376741921
|
0.00005
|
NM_001352514.2(HLCS):c.1327G>A (p.Val443Ile)
|
rs200629955
|
0.00005
|
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=)
|
rs759178651
|
0.00005
|
NM_001352514.2(HLCS):c.1910C>T (p.Pro637Leu)
|
rs536067980
|
0.00005
|
NM_001360016.2(G6PD):c.1493G>C (p.Arg498Thr)
|
rs782422580
|
0.00005
|
NM_001360016.2(G6PD):c.337G>A (p.Asp113Asn)
|
rs5030870
|
0.00005
|
NM_001360016.2(G6PD):c.697G>A (p.Val233Ile)
|
rs781948754
|
0.00005
|
NM_001370658.1(BTD):c.383G>A (p.Arg128His)
|
rs367902696
|
0.00005
|
NM_001370658.1(BTD):c.48C>T (p.Tyr16=)
|
rs201823743
|
0.00005
|
NM_001370658.1(BTD):c.565C>T (p.Arg189Cys)
|
rs369102875
|
0.00005
|
NM_001370658.1(BTD):c.847C>T (p.His283Tyr)
|
rs144084212
|
0.00005
|
NM_001543.5(NDST1):c.389G>A (p.Arg130His)
|
rs148227466
|
0.00005
|
NM_001715.3(BLK):c.*376C>T
|
rs886062601
|
0.00005
|
NM_001739.2(CA5A):c.446C>T (p.Ala149Val)
|
rs113386477
|
0.00005
|
NM_001739.2(CA5A):c.623C>T (p.Ala208Val)
|
rs151220382
|
0.00005
|
NM_001739.2(CA5A):c.626G>A (p.Arg209Gln)
|
rs553928413
|
0.00005
|
NM_002076.4(GNS):c.*2278A>C
|
rs1036841344
|
0.00005
|
NM_002076.4(GNS):c.*2844G>A
|
rs534118009
|
0.00005
|
NM_002076.4(GNS):c.1594C>G (p.Pro532Ala)
|
rs202228620
|
0.00005
|
NM_002076.4(GNS):c.791C>T (p.Thr264Met)
|
rs575544204
|
0.00005
|
NM_002103.5(GYS1):c.*395C>T
|
rs112850979
|
0.00005
|
NM_002103.5(GYS1):c.1754A>G (p.Gln585Arg)
|
rs748471233
|
0.00005
|
NM_002103.5(GYS1):c.1879G>A (p.Glu627Lys)
|
rs962330001
|
0.00005
|
NM_002103.5(GYS1):c.1912C>T (p.Arg638Trp)
|
rs768327651
|
0.00005
|
NM_002103.5(GYS1):c.1922C>T (p.Ser641Leu)
|
rs137913986
|
0.00005
|
NM_002103.5(GYS1):c.2035G>A (p.Glu679Lys)
|
rs574739791
|
0.00005
|
NM_002294.3(LAMP2):c.*1672C>T
|
rs1024440041
|
0.00005
|
NM_002294.3(LAMP2):c.*2538A>C
|
rs1057515739
|
0.00005
|
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val)
|
rs3180515
|
0.00005
|
NM_002299.4(LCT):c.4173+5G>A
|
rs575414951
|
0.00005
|
NM_002591.4(PCK1):c.747G>A (p.Arg249=)
|
rs377356631
|
0.00005
|
NM_002637.4(PHKA1):c.*467T>C
|
rs970811941
|
0.00005
|
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln)
|
rs202007590
|
0.00005
|
NM_002637.4(PHKA1):c.3570C>T (p.Asp1190=)
|
rs1033726905
|
0.00005
|
NM_002863.5(PYGL):c.1093-11C>G
|
rs768745213
|
0.00005
|
NM_002863.5(PYGL):c.1884A>G (p.Ala628=)
|
rs374560108
|
0.00005
|
NM_003041.4(SLC5A2):c.1008C>T (p.Arg336=)
|
rs768523615
|
0.00005
|
NM_003041.4(SLC5A2):c.968C>A (p.Thr323Lys)
|
rs764563027
|
0.00005
|
NM_003051.4(SLC16A1):c.*657C>A
|
rs911644501
|
0.00005
|
NM_003384.3(VRK1):c.617C>A (p.Pro206Gln)
|
rs1412431442
|
0.00005
|
NM_003477.3(PDHX):c.242-4G>A
|
rs199583315
|
0.00005
|
NM_003477.3(PDHX):c.402A>G (p.Glu134=)
|
rs768560478
|
0.00005
|
NM_003597.5(KLF11):c.1169G>A (p.Arg390Gln)
|
rs563767876
|
0.00005
|
NM_003597.5(KLF11):c.1304T>A (p.Phe435Tyr)
|
rs752588055
|
0.00005
|
NM_003619.4(PRSS12):c.2149G>C (p.Glu717Gln)
|
rs754704006
|
0.00005
|
NM_003619.4(PRSS12):c.480G>C (p.Trp160Cys)
|
rs753768799
|
0.00005
|
NM_003805.5(CRADD):c.382G>C (p.Gly128Arg)
|
rs387906861
|
0.00005
|
NM_004130.4(GYG1):c.551C>T (p.Pro184Leu)
|
rs746196371
|
0.00005
|
NM_005327.7(HADH):c.132+7G>T
|
rs534966818
|
0.00005
|
NM_005609.4(PYGM):c.1239+9G>A
|
rs374937711
|
0.00005
|
NM_005609.4(PYGM):c.1409A>G (p.Lys470Arg)
|
rs754940511
|
0.00005
|
NM_005609.4(PYGM):c.1882G>A (p.Gly628Arg)
|
rs201591132
|
0.00005
|
NM_005609.4(PYGM):c.193G>A (p.Val65Met)
|
rs149658961
|
0.00005
|
NM_005609.4(PYGM):c.855+4C>T
|
rs199834605
|
0.00005
|
NM_005908.4(MANBA):c.1837C>T (p.Arg613Cys)
|
rs749814120
|
0.00005
|
NM_005908.4(MANBA):c.2138A>T (p.Asp713Val)
|
rs773650770
|
0.00005
|
NM_005908.4(MANBA):c.2438A>T (p.Asp813Val)
|
rs367692761
|
0.00005
|
NM_006488.3(KHK):c.19C>T (p.Leu7=)
|
rs750201072
|
0.00005
|
NM_006516.2(SLC2A1):c.-483G>T
|
rs886046346
|
0.00005
|
NM_006516.4(SLC2A1):c.*368A>C
|
rs946103123
|
0.00005
|
NM_006516.4(SLC2A1):c.*413G>A
|
rs543194486
|
0.00005
|
NM_006859.4(LIAS):c.386C>T (p.Thr129Met)
|
rs142293392
|
0.00005
|
NM_012434.5(SLC17A5):c.710G>A (p.Gly237Glu)
|
rs374659214
|
0.00005
|
NM_013995.2(LAMP2):c.-154T>C
|
rs999307628
|
0.00005
|
NM_014806.5(RUSC2):c.3557G>A (p.Arg1186Gln)
|
rs746338510
|
0.00005
|
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn)
|
rs760826751
|
0.00005
|
NM_016203.4(PRKAG2):c.1679-3C>T
|
rs371543989
|
0.00005
|
NM_016203.4(PRKAG2):c.593C>T (p.Pro198Leu)
|
rs41317142
|
0.00005
|
NM_016219.5(MAN1B1):c.*185T>G
|
rs137960366
|
0.00005
|
NM_016219.5(MAN1B1):c.689C>T (p.Thr230Ile)
|
rs199561708
|
0.00005
|
NM_017755.6(NSUN2):c.*48C>T
|
rs374381984
|
0.00005
|
NM_017755.6(NSUN2):c.2060G>A (p.Arg687Gln)
|
rs756450204
|
0.00005
|
NM_017755.6(NSUN2):c.862A>G (p.Thr288Ala)
|
rs373798103
|
0.00005
|
NM_018444.4(PDP1):c.202G>A (p.Gly68Arg)
|
rs374758737
|
0.00005
|
NM_020066.5(FMN2):c.2753C>T (p.Ala918Val)
|
rs768693892
|
0.00005
|
NM_020987.5(ANK3):c.3139G>A (p.Val1047Ile)
|
rs535526499
|
0.00005
|
NM_021957.4(GYS2):c.1810-3T>C
|
rs375829709
|
0.00005
|
NM_024298.5(MBOAT7):c.1229T>C (p.Met410Thr)
|
rs556354713
|
0.00005
|
NM_031229.4(RBCK1):c.331C>G (p.Gln111Glu)
|
rs746197240
|
0.00005
|
NM_031229.4(RBCK1):c.514C>A (p.Pro172Thr)
|
rs751621844
|
0.00005
|
NM_031229.4(RBCK1):c.808C>G (p.Gln270Glu)
|
rs201645896
|
0.00005
|
NM_033159.4(HYAL1):c.150C>T (p.Asp50=)
|
rs377272298
|
0.00005
|
NM_033159.4(HYAL1):c.545G>C (p.Trp182Ser)
|
rs1346505806
|
0.00005
|
NM_033159.4(HYAL1):c.846G>A (p.Pro282=)
|
rs782094366
|
0.00005
|
NM_053013.4(ENO3):c.832G>A (p.Glu278Lys)
|
rs370822982
|
0.00005
|
NM_138413.4(HOGA1):c.*352T>C
|
rs545072905
|
0.00005
|
NM_138413.4(HOGA1):c.701-7C>T
|
rs372897096
|
0.00005
|
NM_138413.4(HOGA1):c.764G>A (p.Arg255Gln)
|
rs201145417
|
0.00005
|
NM_138413.4(HOGA1):c.811C>T (p.Arg271Cys)
|
rs367741588
|
0.00005
|
NM_144563.3(RPIA):c.*29T>G
|
rs183747347
|
0.00005
|
NM_152419.3(HGSNAT):c.*1034G>A
|
rs886062957
|
0.00005
|
NM_152419.3(HGSNAT):c.*1436A>G
|
rs373032953
|
0.00005
|
NM_152419.3(HGSNAT):c.1495C>T (p.Arg499Trp)
|
rs200238482
|
0.00005
|
NM_152419.3(HGSNAT):c.691T>C (p.Trp231Arg)
|
rs980989948
|
0.00005
|
NM_175914.5(HNF4A):c.*4G>A
|
rs193922468
|
0.00005
|
NM_175914.5(HNF4A):c.1199G>A (p.Arg400Gln)
|
rs202073574
|
0.00005
|
NM_175914.5(HNF4A):c.233G>A (p.Arg78Gln)
|
rs371557531
|
0.00005
|
NM_175914.5(HNF4A):c.83C>T (p.Ala28Val)
|
rs140143857
|
0.00005
|
NM_198586.3(NHLRC1):c.721C>G (p.Leu241Val)
|
rs772155104
|
0.00005
|
NM_000027.4(AGA):c.24T>C (p.Pro8=)
|
rs34413111
|
0.00004
|
NM_000027.4(AGA):c.538G>A (p.Gly180Arg)
|
rs373865451
|
0.00004
|
NM_000030.3(AGXT):c.484G>A (p.Val162Met)
|
rs147497484
|
0.00004
|
NM_000030.3(AGXT):c.795C>T (p.Pro265=)
|
rs760015739
|
0.00004
|
NM_000030.3(AGXT):c.930C>T (p.Phe310=)
|
rs886055842
|
0.00004
|
NM_000035.4(ALDOB):c.401G>A (p.Arg134His)
|
rs145252200
|
0.00004
|
NM_000046.5(ARSB):c.*384T>A
|
rs970465323
|
0.00004
|
NM_000046.5(ARSB):c.105G>A (p.Pro35=)
|
rs1423589060
|
0.00004
|
NM_000046.5(ARSB):c.1086G>A (p.Arg362=)
|
rs144879531
|
0.00004
|
NM_000046.5(ARSB):c.1178A>C (p.His393Pro)
|
rs118203944
|
0.00004
|
NM_000046.5(ARSB):c.1483G>A (p.Val495Ile)
|
rs138643812
|
0.00004
|
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln)
|
rs776814144
|
0.00004
|
NM_000046.5(ARSB):c.510G>C (p.Leu170=)
|
rs768312895
|
0.00004
|
NM_000046.5(ARSB):c.704A>G (p.Tyr235Cys)
|
rs745804096
|
0.00004
|
NM_000046.5(ARSB):c.975C>T (p.Gly325=)
|
rs75766476
|
0.00004
|
NM_000108.5(DLD):c.*1876G>A
|
rs142001971
|
0.00004
|
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)
|
rs757275923
|
0.00004
|
NM_000108.5(DLD):c.764T>C (p.Met255Thr)
|
rs185710460
|
0.00004
|
NM_000108.5(DLD):c.814T>C (p.Phe272Leu)
|
rs942843326
|
0.00004
|
NM_000108.5(DLD):c.82T>C (p.Ser28Pro)
|
rs768123909
|
0.00004
|
NM_000108.5(DLD):c.869A>G (p.Asp290Gly)
|
rs143555186
|
0.00004
|
NM_000147.5(FUCA1):c.1360G>A (p.Ala454Thr)
|
rs377360830
|
0.00004
|
NM_000147.5(FUCA1):c.397G>C (p.Val133Leu)
|
rs1204848910
|
0.00004
|
NM_000147.5(FUCA1):c.517C>T (p.Arg173Trp)
|
rs768069468
|
0.00004
|
NM_000147.5(FUCA1):c.649G>A (p.Asp217Asn)
|
rs781345107
|
0.00004
|
NM_000151.4(G6PC1):c.*1513C>T
|
rs374021788
|
0.00004
|
NM_000151.4(G6PC1):c.447G>A (p.Arg149=)
|
rs549712764
|
0.00004
|
NM_000152.5(GAA):c.*264G>A
|
rs1219851042
|
0.00004
|
NM_000152.5(GAA):c.1198G>A (p.Val400Ile)
|
rs758334520
|
0.00004
|
NM_000152.5(GAA):c.11G>A (p.Arg4Lys)
|
rs372147077
|
0.00004
|
NM_000152.5(GAA):c.1245G>A (p.Thr415=)
|
rs760920034
|
0.00004
|
NM_000152.5(GAA):c.138C>T (p.Ser46=)
|
rs753375900
|
0.00004
|
NM_000152.5(GAA):c.1478C>T (p.Pro493Leu)
|
rs148842275
|
0.00004
|
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr)
|
rs144731405
|
0.00004
|
NM_000152.5(GAA):c.196C>T (p.Arg66Trp)
|
rs371971763
|
0.00004
|
NM_000152.5(GAA):c.2151C>T (p.His717=)
|
rs758725073
|
0.00004
|
NM_000152.5(GAA):c.2330C>T (p.Thr777Met)
|
rs746779016
|
0.00004
|
NM_000152.5(GAA):c.2331G>A (p.Thr777=)
|
rs375311693
|
0.00004
|
NM_000152.5(GAA):c.2423C>T (p.Pro808Leu)
|
rs773498009
|
0.00004
|
NM_000152.5(GAA):c.2671C>T (p.Arg891Cys)
|
rs377249041
|
0.00004
|
NM_000152.5(GAA):c.502C>T (p.Arg168Trp)
|
rs777473001
|
0.00004
|
NM_000152.5(GAA):c.643G>A (p.Glu215Lys)
|
rs201286896
|
0.00004
|
NM_000152.5(GAA):c.781G>A (p.Ala261Thr)
|
rs543360994
|
0.00004
|
NM_000152.5(GAA):c.861C>T (p.Pro287=)
|
rs778580823
|
0.00004
|
NM_000152.5(GAA):c.912C>T (p.Gly304=)
|
rs368741815
|
0.00004
|
NM_000154.2(GALK1):c.1045G>A (p.Gly349Ser)
|
rs754967473
|
0.00004
|
NM_000155.4(GALT):c.1006A>T (p.Met336Leu)
|
rs111033810
|
0.00004
|
NM_000155.4(GALT):c.197C>T (p.Pro66Leu)
|
rs111033656
|
0.00004
|
NM_000155.4(GALT):c.270T>C (p.Asp90=)
|
rs1300102277
|
0.00004
|
NM_000158.4(GBE1):c.*598G>C
|
rs886058898
|
0.00004
|
NM_000158.4(GBE1):c.1270A>G (p.Ile424Val)
|
rs773950053
|
0.00004
|
NM_000158.4(GBE1):c.1672G>A (p.Glu558Lys)
|
rs765212625
|
0.00004
|
NM_000158.4(GBE1):c.1825G>A (p.Glu609Lys)
|
rs772802187
|
0.00004
|
NM_000158.4(GBE1):c.1932G>A (p.Gly644=)
|
rs544906178
|
0.00004
|
NM_000158.4(GBE1):c.23C>T (p.Ala8Val)
|
rs759518868
|
0.00004
|
NM_000158.4(GBE1):c.626A>G (p.His209Arg)
|
rs542346749
|
0.00004
|
NM_000158.4(GBE1):c.760A>G (p.Thr254Ala)
|
rs770427750
|
0.00004
|
NM_000162.5(GCK):c.*678G>T
|
rs555058443
|
0.00004
|
NM_000162.5(GCK):c.203G>A (p.Gly68Asp)
|
rs373418736
|
0.00004
|
NM_000162.5(GCK):c.646G>A (p.Glu216Lys)
|
rs778550411
|
0.00004
|
NM_000162.5(GCK):c.836A>G (p.Glu279Gly)
|
rs143484733
|
0.00004
|
NM_000181.4(GUSB):c.1121G>A (p.Arg374His)
|
rs780716481
|
0.00004
|
NM_000181.4(GUSB):c.1138G>A (p.Ala380Thr)
|
rs377615121
|
0.00004
|
NM_000181.4(GUSB):c.1238C>T (p.Ala413Val)
|
rs752523400
|
0.00004
|
NM_000181.4(GUSB):c.1244C>T (p.Pro415Leu)
|
rs751025746
|
0.00004
|
NM_000181.4(GUSB):c.324G>A (p.Pro108=)
|
rs546131174
|
0.00004
|
NM_000181.4(GUSB):c.766T>C (p.Phe256Leu)
|
rs200941434
|
0.00004
|
NM_000199.5(SGSH):c.1042C>T (p.Leu348Phe)
|
rs146494740
|
0.00004
|
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
NM_000199.5(SGSH):c.1134C>T (p.Ser378=)
|
rs771257931
|
0.00004
|
NM_000199.5(SGSH):c.1135G>A (p.Val379Met)
|
rs541847913
|
0.00004
|
NM_000199.5(SGSH):c.1241G>A (p.Arg414His)
|
rs200320139
|
0.00004
|
NM_000199.5(SGSH):c.166C>T (p.Arg56Cys)
|
rs761780038
|
0.00004
|
NM_000199.5(SGSH):c.314G>A (p.Arg105Gln)
|
rs375058146
|
0.00004
|
NM_000199.5(SGSH):c.792C>T (p.Asn264=)
|
rs147962306
|
0.00004
|
NM_000199.5(SGSH):c.89-10C>T
|
rs766929408
|
0.00004
|
NM_000199.5(SGSH):c.89C>T (p.Ala30Val)
|
rs767227727
|
0.00004
|
NM_000202.8(IDS):c.301C>T (p.Arg101Cys)
|
rs782738754
|
0.00004
|
NM_000202.8(IDS):c.449C>T (p.Pro150Leu)
|
rs1406337035
|
0.00004
|
NM_000203.5(IDUA):c.1031C>G (p.Ala344Gly)
|
rs202191662
|
0.00004
|
NM_000203.5(IDUA):c.1482C>G (p.Val494=)
|
rs999890083
|
0.00004
|
NM_000203.5(IDUA):c.1501T>C (p.Phe501Leu)
|
rs776590488
|
0.00004
|
NM_000203.5(IDUA):c.1633G>A (p.Glu545Lys)
|
rs1257968688
|
0.00004
|
NM_000203.5(IDUA):c.248G>A (p.Arg83His)
|
rs141461803
|
0.00004
|
NM_000203.5(IDUA):c.30G>A (p.Leu10=)
|
rs549738466
|
0.00004
|
NM_000203.5(IDUA):c.340C>A (p.Leu114Met)
|
rs372934646
|
0.00004
|
NM_000203.5(IDUA):c.581C>G (p.Thr194Ser)
|
rs575667885
|
0.00004
|
NM_000203.5(IDUA):c.64C>G (p.Pro22Ala)
|
rs1001972534
|
0.00004
|
NM_000203.5(IDUA):c.812C>T (p.Ser271Phe)
|
rs766950553
|
0.00004
|
NM_000203.5(IDUA):c.957G>C (p.Ala319=)
|
rs748350723
|
0.00004
|
NM_000262.3(NAGA):c.*1724C>G
|
rs892278914
|
0.00004
|
NM_000262.3(NAGA):c.-43C>T
|
rs753592199
|
0.00004
|
NM_000262.3(NAGA):c.324C>T (p.Tyr108=)
|
rs182798205
|
0.00004
|
NM_000262.3(NAGA):c.487G>A (p.Glu163Lys)
|
rs372458856
|
0.00004
|
NM_000262.3(NAGA):c.582C>T (p.Gly194=)
|
rs553977653
|
0.00004
|
NM_000263.4(NAGLU):c.1073C>T (p.Pro358Leu)
|
rs368687817
|
0.00004
|
NM_000263.4(NAGLU):c.1900G>A (p.Glu634Lys)
|
rs147036053
|
0.00004
|
NM_000263.4(NAGLU):c.203G>A (p.Gly68Asp)
|
rs929286583
|
0.00004
|
NM_000263.4(NAGLU):c.208G>C (p.Gly70Arg)
|
rs1329159364
|
0.00004
|
NM_000263.4(NAGLU):c.2185A>C (p.Lys729Gln)
|
rs144807822
|
0.00004
|
NM_000263.4(NAGLU):c.383+7C>T
|
rs768602711
|
0.00004
|
NM_000263.4(NAGLU):c.569A>G (p.Asn190Ser)
|
rs375458666
|
0.00004
|
NM_000289.6(PFKM):c.1770C>T (p.Ala590=)
|
rs751097669
|
0.00004
|
NM_000289.6(PFKM):c.59T>C (p.Val20Ala)
|
rs755992543
|
0.00004
|
NM_000289.6(PFKM):c.978G>A (p.Glu326=)
|
rs550083752
|
0.00004
|
NM_000290.4(PGAM2):c.571C>T (p.Arg191Trp)
|
rs368258088
|
0.00004
|
NM_000292.3(PHKA2):c.1384G>A (p.Val462Ile)
|
rs1389980232
|
0.00004
|
NM_000292.3(PHKA2):c.1561A>G (p.Thr521Ala)
|
rs137958637
|
0.00004
|
NM_000292.3(PHKA2):c.2203T>G (p.Ser735Ala)
|
rs199904295
|
0.00004
|
NM_000292.3(PHKA2):c.2971G>A (p.Gly991Arg)
|
rs750628677
|
0.00004
|
NM_000292.3(PHKA2):c.3326C>A (p.Thr1109Lys)
|
rs780391791
|
0.00004
|
NM_000293.3(PHKB):c.1499T>C (p.Ile500Thr)
|
rs147021608
|
0.00004
|
NM_000293.3(PHKB):c.185T>C (p.Leu62Pro)
|
rs773528597
|
0.00004
|
NM_000293.3(PHKB):c.229G>A (p.Gly77Ser)
|
rs749953598
|
0.00004
|
NM_000293.3(PHKB):c.2626A>G (p.Ile876Val)
|
rs545345880
|
0.00004
|
NM_000293.3(PHKB):c.271G>A (p.Ala91Thr)
|
rs200339326
|
0.00004
|
NM_000293.3(PHKB):c.2995G>A (p.Val999Ile)
|
rs375389167
|
0.00004
|
NM_000293.3(PHKB):c.30A>C (p.Glu10Asp)
|
rs760502380
|
0.00004
|
NM_000293.3(PHKB):c.3175C>T (p.Pro1059Ser)
|
rs746809041
|
0.00004
|
NM_000293.3(PHKB):c.754T>C (p.Phe252Leu)
|
rs373920188
|
0.00004
|
NM_000294.3(PHKG2):c.139G>A (p.Gly47Ser)
|
rs373915359
|
0.00004
|
NM_000294.3(PHKG2):c.227G>A (p.Arg76Gln)
|
rs138299462
|
0.00004
|
NM_000298.6(PKLR):c.*342C>T
|
rs879040355
|
0.00004
|
NM_000298.6(PKLR):c.*346_*348del
|
rs556763356
|
0.00004
|
NM_000308.4(CTSA):c.1009G>C (p.Ala337Pro)
|
rs374059459
|
0.00004
|
NM_000308.4(CTSA):c.1164+7G>A
|
rs775198775
|
0.00004
|
NM_000308.4(CTSA):c.448G>A (p.Ala150Thr)
|
rs779275701
|
0.00004
|
NM_000308.4(CTSA):c.980T>C (p.Met327Thr)
|
rs140321228
|
0.00004
|
NM_000340.2(SLC2A2):c.*1303T>C
|
rs866750823
|
0.00004
|
NM_000340.2(SLC2A2):c.1039G>A (p.Ala347Thr)
|
rs776435170
|
0.00004
|
NM_000340.2(SLC2A2):c.206C>A (p.Thr69Lys)
|
rs779977931
|
0.00004
|
NM_000340.2(SLC2A2):c.612+10C>A
|
rs762632420
|
0.00004
|
NM_000343.3(SLC5A1):c.-51G>A
|
rs199663392
|
0.00004
|
NM_000343.4(SLC5A1):c.*334G>A
|
rs199902294
|
0.00004
|
NM_000343.4(SLC5A1):c.1126A>G (p.Asn376Asp)
|
rs200834101
|
0.00004
|
NM_000343.4(SLC5A1):c.1693A>G (p.Asn565Asp)
|
rs33948878
|
0.00004
|
NM_000343.4(SLC5A1):c.461T>C (p.Ile154Thr)
|
rs565272257
|
0.00004
|
NM_000343.4(SLC5A1):c.813G>A (p.Thr271=)
|
rs200849778
|
0.00004
|
NM_000352.6(ABCC8):c.1643C>T (p.Thr548Met)
|
rs763794263
|
0.00004
|
NM_000352.6(ABCC8):c.1924-10C>T
|
rs200823913
|
0.00004
|
NM_000352.6(ABCC8):c.2117-12C>A
|
rs193922398
|
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.3087C>A (p.Ile1029=)
|
rs376413488
|
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.3618C>T (p.Thr1206=)
|
rs775134825
|
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.4647C>T (p.Ile1549=)
|
rs367862706
|
0.00004
|
NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln)
|
rs374743072
|
0.00004
|
NM_000352.6(ABCC8):c.495G>A (p.Ser165=)
|
rs369136858
|
0.00004
|
NM_000352.6(ABCC8):c.4C>A (p.Pro2Thr)
|
rs756552692
|
0.00004
|
NM_000352.6(ABCC8):c.552C>T (p.Leu184=)
|
rs151211613
|
0.00004
|
NM_000352.6(ABCC8):c.604A>T (p.Arg202Trp)
|
rs751446018
|
0.00004
|
NM_000352.6(ABCC8):c.735C>T (p.Ile245=)
|
rs535141079
|
0.00004
|
NM_000352.6(ABCC8):c.942C>T (p.Phe314=)
|
rs768582290
|
0.00004
|
NM_000365.6(TPI1):c.261C>T (p.Cys87=)
|
rs370863694
|
0.00004
|
NM_000404.4(GLB1):c.*224G>T
|
rs557844974
|
0.00004
|
NM_000404.4(GLB1):c.1052G>A (p.Arg351Gln)
|
rs761601513
|
0.00004
|
NM_000404.4(GLB1):c.1286C>T (p.Pro429Leu)
|
rs201148460
|
0.00004
|
NM_000404.4(GLB1):c.1348-7C>T
|
rs774732235
|
0.00004
|
NM_000404.4(GLB1):c.1910C>T (p.Thr637Met)
|
rs369133124
|
0.00004
|
NM_000404.4(GLB1):c.235G>A (p.Ala79Thr)
|
rs553660803
|
0.00004
|
NM_000434.4(NEU1):c.1170C>T (p.Tyr390=)
|
rs746607723
|
0.00004
|
NM_000434.4(NEU1):c.1189C>T (p.Arg397Trp)
|
rs765074909
|
0.00004
|
NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=)
|
rs780554506
|
0.00004
|
NM_000507.3(FBP1):c.-246G>T
|
rs921192380
|
0.00004
|
NM_000507.4(FBP1):c.477C>G (p.Asn159Lys)
|
rs199531187
|
0.00004
|
NM_000507.4(FBP1):c.567G>A (p.Pro189=)
|
rs376631329
|
0.00004
|
NM_000507.4(FBP1):c.764G>T (p.Arg255Leu)
|
rs28369761
|
0.00004
|
NM_000507.4(FBP1):c.799G>A (p.Ala267Thr)
|
rs576352790
|
0.00004
|
NM_000512.5(GALNS):c.*145C>T
|
rs539285988
|
0.00004
|
NM_000512.5(GALNS):c.*95T>A
|
rs536448022
|
0.00004
|
NM_000512.5(GALNS):c.1475C>T (p.Ala492Val)
|
rs141171091
|
0.00004
|
NM_000512.5(GALNS):c.715G>A (p.Val239Ile)
|
rs145131011
|
0.00004
|
NM_000512.5(GALNS):c.832G>A (p.Ala278Thr)
|
rs377591464
|
0.00004
|
NM_000512.5(GALNS):c.97A>G (p.Ile33Val)
|
rs768296954
|
0.00004
|
NM_000525.4(KCNJ11):c.-6G>A
|
rs554874150
|
0.00004
|
NM_000525.4(KCNJ11):c.54A>G (p.Ala18=)
|
rs193922564
|
0.00004
|
NM_000525.4(KCNJ11):c.567C>T (p.Ile189=)
|
rs114899765
|
0.00004
|
NM_000525.4(KCNJ11):c.80G>A (p.Arg27His)
|
rs774714794
|
0.00004
|
NM_000525.4(KCNJ11):c.912C>T (p.Tyr304=)
|
rs372471215
|
0.00004
|
NM_000528.3(MAN2B1):c.-73G>T
|
rs544325509
|
0.00004
|
NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser)
|
rs767199154
|
0.00004
|
NM_000528.4(MAN2B1):c.1528-3C>A
|
rs752895909
|
0.00004
|
NM_000528.4(MAN2B1):c.1540G>A (p.Val514Ile)
|
rs759767616
|
0.00004
|
NM_000528.4(MAN2B1):c.1645-3G>A
|
rs748206062
|
0.00004
|
NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=)
|
rs369071579
|
0.00004
|
NM_000528.4(MAN2B1):c.2047-4G>A
|
rs768347546
|
0.00004
|
NM_000528.4(MAN2B1):c.2047-5C>T
|
rs200424566
|
0.00004
|
NM_000528.4(MAN2B1):c.2166-8G>A
|
rs774350579
|
0.00004
|
NM_000528.4(MAN2B1):c.2167G>A (p.Asp723Asn)
|
rs749183690
|
0.00004
|
NM_000528.4(MAN2B1):c.2249G>A (p.Arg750Gln)
|
rs373240866
|
0.00004
|
NM_000528.4(MAN2B1):c.2431C>T (p.Leu811Phe)
|
rs367852398
|
0.00004
|
NM_000528.4(MAN2B1):c.282C>T (p.His94=)
|
rs766810849
|
0.00004
|
NM_000528.4(MAN2B1):c.773C>T (p.Pro258Leu)
|
rs1196803371
|
0.00004
|
NM_000545.8(HNF1A):c.1310-12C>T
|
rs193922579
|
0.00004
|
NM_000545.8(HNF1A):c.1498C>A (p.His500Asn)
|
rs921423540
|
0.00004
|
NM_000545.8(HNF1A):c.1624-15G>A
|
rs193922585
|
0.00004
|
NM_000545.8(HNF1A):c.236A>T (p.Glu79Val)
|
rs143753579
|
0.00004
|
NM_000545.8(HNF1A):c.481G>A (p.Ala161Thr)
|
rs201095611
|
0.00004
|
NM_000545.8(HNF1A):c.962G>A (p.Arg321His)
|
rs751761766
|
0.00004
|
NM_000642.3(AGL):c.*562del
|
rs886044926
|
0.00004
|
NM_000642.3(AGL):c.*670A>G
|
rs886044927
|
0.00004
|
NM_000642.3(AGL):c.1049T>C (p.Met350Thr)
|
rs761122742
|
0.00004
|
NM_000642.3(AGL):c.1165A>T (p.Ile389Phe)
|
rs140002583
|
0.00004
|
NM_000642.3(AGL):c.1250G>C (p.Gly417Ala)
|
rs754419745
|
0.00004
|
NM_000642.3(AGL):c.1552A>G (p.Thr518Ala)
|
rs754606378
|
0.00004
|
NM_000642.3(AGL):c.1611+6G>A
|
rs774806852
|
0.00004
|
NM_000642.3(AGL):c.1899+9C>G
|
rs768285138
|
0.00004
|
NM_000642.3(AGL):c.2001+4T>C
|
rs989274141
|
0.00004
|
NM_000642.3(AGL):c.2032A>G (p.Thr678Ala)
|
rs763790850
|
0.00004
|
NM_000642.3(AGL):c.2357C>T (p.Thr786Met)
|
rs147586981
|
0.00004
|
NM_000642.3(AGL):c.241T>C (p.Cys81Arg)
|
rs201584227
|
0.00004
|
NM_000642.3(AGL):c.2558A>G (p.Asp853Gly)
|
rs374531404
|
0.00004
|
NM_000642.3(AGL):c.3258A>T (p.Ala1086=)
|
rs779468425
|
0.00004
|
NM_000642.3(AGL):c.325G>T (p.Val109Leu)
|
rs369068676
|
0.00004
|
NM_000642.3(AGL):c.340C>T (p.Arg114Cys)
|
rs760763834
|
0.00004
|
NM_000642.3(AGL):c.3738A>T (p.Gly1246=)
|
rs780617757
|
0.00004
|
NM_000642.3(AGL):c.4100G>A (p.Gly1367Glu)
|
rs776872571
|
0.00004
|
NM_000642.3(AGL):c.767G>A (p.Arg256His)
|
rs200180652
|
0.00004
|
NM_000642.3(AGL):c.841A>G (p.Met281Val)
|
rs185838959
|
0.00004
|
NM_000642.3(AGL):c.911T>C (p.Val304Ala)
|
rs763076276
|
0.00004
|
NM_000891.3(KCNJ2):c.*1320C>T
|
rs923732685
|
0.00004
|
NM_000891.3(KCNJ2):c.*1440A>T
|
rs886053332
|
0.00004
|
NM_000891.3(KCNJ2):c.*2508G>A
|
rs913851832
|
0.00004
|
NM_000891.3(KCNJ2):c.*2812T>C
|
rs886053344
|
0.00004
|
NM_000891.3(KCNJ2):c.-88C>T
|
rs886053322
|
0.00004
|
NM_000891.3(KCNJ2):c.1199C>T (p.Thr400Met)
|
rs144022753
|
0.00004
|
NM_000891.3(KCNJ2):c.119G>A (p.Arg40Gln)
|
rs766143485
|
0.00004
|
NM_000891.3(KCNJ2):c.511A>G (p.Ile171Val)
|
rs150326473
|
0.00004
|
NM_000925.4(PDHB):c.185A>G (p.Gln62Arg)
|
rs777514148
|
0.00004
|
NM_001008216.2(GALE):c.*69G>A
|
rs543116262
|
0.00004
|
NM_001008216.2(GALE):c.-77+340G>C
|
rs568182391
|
0.00004
|
NM_001008216.2(GALE):c.187G>C (p.Glu63Gln)
|
rs370693766
|
0.00004
|
NM_001008216.2(GALE):c.319G>A (p.Val107Ile)
|
rs770332379
|
0.00004
|
NM_001008216.2(GALE):c.794G>A (p.Arg265Gln)
|
rs377362117
|
0.00004
|
NM_001008216.2(GALE):c.874-9G>A
|
rs764448821
|
0.00004
|
NM_001008216.2(GALE):c.97G>A (p.Asp33Asn)
|
rs727503945
|
0.00004
|
NM_001039770.3(TMPPE):c.-398A>G
|
rs369627064
|
0.00004
|
NM_001040716.2(PC):c.*188G>A
|
rs553630251
|
0.00004
|
NM_001040716.2(PC):c.1370C>G (p.Thr457Ser)
|
rs200676705
|
0.00004
|
NM_001040716.2(PC):c.1607C>T (p.Pro536Leu)
|
rs751657066
|
0.00004
|
NM_001040716.2(PC):c.2899-9G>A
|
rs372755874
|
0.00004
|
NM_001040716.2(PC):c.3137A>G (p.Glu1046Gly)
|
rs771700107
|
0.00004
|
NM_001040716.2(PC):c.3383G>C (p.Gly1128Ala)
|
rs138990904
|
0.00004
|
NM_001040716.2(PC):c.879C>T (p.Ser293=)
|
rs183131461
|
0.00004
|
NM_001041.4(SI):c.1943G>A (p.Arg648Lys)
|
rs375458342
|
0.00004
|
NM_001041.4(SI):c.2891C>T (p.Thr964Met)
|
rs369115304
|
0.00004
|
NM_001041.4(SI):c.3760-7A>G
|
rs367956129
|
0.00004
|
NM_001041.4(SI):c.3955G>A (p.Val1319Ile)
|
rs376972966
|
0.00004
|
NM_001041.4(SI):c.4469G>T (p.Ser1490Ile)
|
rs376437234
|
0.00004
|
NM_001041.4(SI):c.4630C>T (p.Arg1544Cys)
|
rs767701775
|
0.00004
|
NM_001041.4(SI):c.4692+12C>T
|
rs199581970
|
0.00004
|
NM_001041.4(SI):c.4705G>A (p.Ala1569Thr)
|
rs369134336
|
0.00004
|
NM_001041.4(SI):c.5110C>T (p.Arg1704Ter)
|
rs779803851
|
0.00004
|
NM_001041.4(SI):c.695G>A (p.Arg232His)
|
rs747345955
|
0.00004
|
NM_001136035.4(TRMT1):c.1833G>A (p.Glu611=)
|
rs778368877
|
0.00004
|
NM_001160372.4(TRAPPC9):c.3056A>C (p.Asp1019Ala)
|
rs755371528
|
0.00004
|
NM_001164277.2(SLC37A4):c.-183C>T
|
rs145369754
|
0.00004
|
NM_001164277.2(SLC37A4):c.1159A>G (p.Ile387Val)
|
rs782480303
|
0.00004
|
NM_001164277.2(SLC37A4):c.1220G>C (p.Ser407Thr)
|
rs863224212
|
0.00004
|
NM_001164277.2(SLC37A4):c.29G>A (p.Arg10His)
|
rs782500443
|
0.00004
|
NM_001164277.2(SLC37A4):c.700C>T (p.Leu234Phe)
|
rs782616313
|
0.00004
|
NM_001164277.2(SLC37A4):c.703G>T (p.Val235Leu)
|
rs141105181
|
0.00004
|
NM_001164277.2(SLC37A4):c.785+3A>G
|
rs373543021
|
0.00004
|
NM_001164277.2(SLC37A4):c.986-11G>A
|
rs1487063543
|
0.00004
|
NM_001243177.4(ALDOA):c.312G>A (p.Glu104=)
|
rs779556052
|
0.00004
|
NM_001243177.4(ALDOA):c.764G>A (p.Arg255His)
|
rs534264493
|
0.00004
|
NM_001243177.4(ALDOA):c.929C>T (p.Ala310Val)
|
rs201658390
|
0.00004
|
NM_001352514.2(HLCS):c.*1089G>A
|
rs146991267
|
0.00004
|
NM_001352514.2(HLCS):c.*1094T>C
|
rs780432651
|
0.00004
|
NM_001352514.2(HLCS):c.*1097G>A
|
rs886057070
|
0.00004
|
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn)
|
rs149399432
|
0.00004
|
NM_001352514.2(HLCS):c.494-9A>G
|
rs376397597
|
0.00004
|
NM_001352514.2(HLCS):c.574C>G (p.Pro192Ala)
|
rs200950813
|
0.00004
|
NM_001352514.2(HLCS):c.910C>T (p.Leu304Phe)
|
rs763508196
|
0.00004
|
NM_001352514.2(HLCS):c.918A>G (p.Gly306=)
|
rs767988985
|
0.00004
|
NM_001358263.1(HK1):c.4G>A (p.Gly2Arg)
|
rs766565453
|
0.00004
|
NM_001366110.1(PAX4):c.676C>T (p.Arg226Cys)
|
rs369459316
|
0.00004
|
NM_001370658.1(BTD):c.-38G>A
|
rs138473616
|
0.00004
|
NM_001370658.1(BTD):c.1301A>G (p.Tyr434Cys)
|
rs397514345
|
0.00004
|
NM_001370658.1(BTD):c.1536G>A (p.Thr512=)
|
rs774052068
|
0.00004
|
NM_001370658.1(BTD):c.261T>G (p.Ile87Met)
|
rs1024847163
|
0.00004
|
NM_001370658.1(BTD):c.49G>A (p.Val17Met)
|
rs772369148
|
0.00004
|
NM_001543.5(NDST1):c.730C>T (p.Arg244Cys)
|
rs375092472
|
0.00004
|
NM_001715.3(BLK):c.-201G>A
|
rs1468476015
|
0.00004
|
NM_001715.3(BLK):c.-47C>T
|
rs150444590
|
0.00004
|
NM_001715.3(BLK):c.153G>A (p.Pro51=)
|
rs746710451
|
0.00004
|
NM_001715.3(BLK):c.639C>T (p.Cys213=)
|
rs779263158
|
0.00004
|
NM_001715.3(BLK):c.810G>A (p.Thr270=)
|
rs749767699
|
0.00004
|
NM_001739.2(CA5A):c.164C>T (p.Pro55Leu)
|
rs764182711
|
0.00004
|
NM_001739.2(CA5A):c.271T>C (p.Ser91Pro)
|
rs557776920
|
0.00004
|
NM_001739.2(CA5A):c.38C>T (p.Ser13Phe)
|
rs200005306
|
0.00004
|
NM_001739.2(CA5A):c.544G>A (p.Val182Met)
|
rs149854962
|
0.00004
|
NM_001739.2(CA5A):c.668C>A (p.Thr223Asn)
|
rs144744608
|
0.00004
|
NM_001931.5(DLAT):c.1547G>T (p.Ser516Ile)
|
rs782629889
|
0.00004
|
NM_001931.5(DLAT):c.974C>T (p.Pro325Leu)
|
rs782527135
|
0.00004
|
NM_002076.4(GNS):c.*2447G>A
|
rs567930294
|
0.00004
|
NM_002076.4(GNS):c.*319C>T
|
rs368523842
|
0.00004
|
NM_002076.4(GNS):c.*71T>C
|
rs983471422
|
0.00004
|
NM_002076.4(GNS):c.1309-12A>G
|
rs376318831
|
0.00004
|
NM_002076.4(GNS):c.311C>T (p.Pro104Leu)
|
rs1236473511
|
0.00004
|
NM_002076.4(GNS):c.325G>A (p.Val109Ile)
|
rs777717534
|
0.00004
|
NM_002076.4(GNS):c.415A>G (p.Met139Val)
|
rs142588770
|
0.00004
|
NM_002076.4(GNS):c.688G>A (p.Ala230Thr)
|
rs140270805
|
0.00004
|
NM_002076.4(GNS):c.77T>C (p.Leu26Pro)
|
rs899951878
|
0.00004
|
NM_002076.4(GNS):c.793-9A>G
|
rs780164582
|
0.00004
|
NM_002076.4(GNS):c.886C>G (p.Leu296Val)
|
rs755801592
|
0.00004
|
NM_002076.4(GNS):c.968A>G (p.Tyr323Cys)
|
rs888774422
|
0.00004
|
NM_002103.5(GYS1):c.*78C>T
|
rs749720376
|
0.00004
|
NM_002103.5(GYS1):c.*969C>T
|
rs900047388
|
0.00004
|
NM_002103.5(GYS1):c.1049A>G (p.Asn350Ser)
|
rs776808234
|
0.00004
|
NM_002103.5(GYS1):c.1112G>A (p.Arg371Gln)
|
rs369847599
|
0.00004
|
NM_002103.5(GYS1):c.1279A>G (p.Met427Val)
|
rs746669628
|
0.00004
|
NM_002103.5(GYS1):c.1904G>A (p.Arg635His)
|
rs200113836
|
0.00004
|
NM_002103.5(GYS1):c.206C>T (p.Thr69Met)
|
rs760809851
|
0.00004
|
NM_002103.5(GYS1):c.2207G>A (p.Arg736His)
|
rs367919986
|
0.00004
|
NM_002103.5(GYS1):c.251C>T (p.Thr84Ile)
|
rs143186691
|
0.00004
|
NM_002103.5(GYS1):c.303G>A (p.Val101=)
|
rs1391443496
|
0.00004
|
NM_002103.5(GYS1):c.631C>T (p.Arg211Cys)
|
rs150822415
|
0.00004
|
NM_002103.5(GYS1):c.646G>T (p.Gly216Cys)
|
rs141601517
|
0.00004
|
NM_002103.5(GYS1):c.652G>A (p.Val218Met)
|
rs771977818
|
0.00004
|
NM_002103.5(GYS1):c.80C>T (p.Ala27Val)
|
rs759088871
|
0.00004
|
NM_002294.3(LAMP2):c.*4664A>G
|
rs894257602
|
0.00004
|
NM_002294.3(LAMP2):c.29C>T (p.Pro10Leu)
|
rs769378984
|
0.00004
|
NM_002294.3(LAMP2):c.928+6C>T
|
rs769837038
|
0.00004
|
NM_002299.4(LCT):c.4224G>A (p.Thr1408=)
|
rs199901583
|
0.00004
|
NM_002300.8(LDHB):c.375C>T (p.Ile125=)
|
rs141707607
|
0.00004
|
NM_002500.5(NEUROD1):c.*718C>T
|
rs886055320
|
0.00004
|
NM_002500.5(NEUROD1):c.-81C>T
|
rs567688779
|
0.00004
|
NM_002500.5(NEUROD1):c.741C>A (p.His247Gln)
|
rs201542440
|
0.00004
|
NM_002500.5(NEUROD1):c.746A>G (p.Tyr249Cys)
|
rs780520468
|
0.00004
|
NM_002500.5(NEUROD1):c.751G>T (p.Ala251Ser)
|
rs375390710
|
0.00004
|
NM_002591.4(PCK1):c.134T>C (p.Ile45Thr)
|
rs202197769
|
0.00004
|
NM_002637.4(PHKA1):c.*1797A>G
|
rs1296603872
|
0.00004
|
NM_002637.4(PHKA1):c.1067A>G (p.Glu356Gly)
|
rs782036622
|
0.00004
|
NM_002637.4(PHKA1):c.1366A>G (p.Lys456Glu)
|
rs868916849
|
0.00004
|
NM_002637.4(PHKA1):c.751A>G (p.Thr251Ala)
|
rs1318462080
|
0.00004
|
NM_002863.5(PYGL):c.1196G>A (p.Arg399Gln)
|
rs369207678
|
0.00004
|
NM_002863.5(PYGL):c.1519-15C>A
|
rs372886463
|
0.00004
|
NM_002863.5(PYGL):c.1731G>C (p.Gln577His)
|
rs368171220
|
0.00004
|
NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val)
|
rs766548165
|
0.00004
|
NM_003041.4(SLC5A2):c.1877C>T (p.Pro626Leu)
|
rs535031004
|
0.00004
|
NM_003051.3(SLC16A1):c.-218G>A
|
rs761334745
|
0.00004
|
NM_003051.4(SLC16A1):c.*77C>T
|
rs868304120
|
0.00004
|
NM_003384.3(VRK1):c.-11C>T
|
rs1055946372
|
0.00004
|
NM_003384.3(VRK1):c.1150A>G (p.Ile384Val)
|
rs147604836
|
0.00004
|
NM_003384.3(VRK1):c.29G>A (p.Gly10Glu)
|
rs777028935
|
0.00004
|
NM_003384.3(VRK1):c.452G>A (p.Arg151Gln)
|
rs536881543
|
0.00004
|
NM_003384.3(VRK1):c.560A>G (p.Tyr187Cys)
|
rs769507445
|
0.00004
|
NM_003384.3(VRK1):c.683C>T (p.Thr228Met)
|
rs146113610
|
0.00004
|
NM_003384.3(VRK1):c.841A>G (p.Asn281Asp)
|
rs772136738
|
0.00004
|
NM_003597.5(KLF11):c.*1990T>C
|
rs911685125
|
0.00004
|
NM_003597.5(KLF11):c.1259-2_1259-1del
|
rs770555623
|
0.00004
|
NM_003597.5(KLF11):c.689C>T (p.Ser230Phe)
|
rs370039403
|
0.00004
|
NM_003619.4(PRSS12):c.*800G>A
|
rs1368772207
|
0.00004
|
NM_003619.4(PRSS12):c.177G>A (p.Pro59=)
|
rs746966869
|
0.00004
|
NM_003619.4(PRSS12):c.1916+11C>T
|
rs775761093
|
0.00004
|
NM_003619.4(PRSS12):c.2568T>A (p.Pro856=)
|
rs138882049
|
0.00004
|
NM_003619.4(PRSS12):c.511C>T (p.Arg171Ter)
|
rs751423861
|
0.00004
|
NM_003619.4(PRSS12):c.890A>G (p.His297Arg)
|
rs756685819
|
0.00004
|
NM_004130.4(GYG1):c.1009T>A (p.Ser337Thr)
|
rs542123045
|
0.00004
|
NM_004130.4(GYG1):c.614G>T (p.Gly205Val)
|
rs763516254
|
0.00004
|
NM_004130.4(GYG1):c.928G>C (p.Ala310Pro)
|
rs1363436975
|
0.00004
|
NM_004563.4(PCK2):c.424C>T (p.Arg142Ter)
|
rs746104381
|
0.00004
|
NM_005327.7(HADH):c.*59G>A
|
rs529762487
|
0.00004
|
NM_005327.7(HADH):c.710-14C>T
|
rs185267497
|
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_005566.4(LDHA):c.*666C>T
|
rs923756666
|
0.00004
|
NM_005566.4(LDHA):c.*745T>C
|
rs867222703
|
0.00004
|
NM_005609.4(PYGM):c.1075C>T (p.Arg359Trp)
|
rs761807664
|
0.00004
|
NM_005609.4(PYGM):c.1218G>T (p.Glu406Asp)
|
rs757762621
|
0.00004
|
NM_005609.4(PYGM):c.1266C>T (p.Asp422=)
|
rs769602726
|
0.00004
|
NM_005609.4(PYGM):c.131G>A (p.Arg44His)
|
rs567482511
|
0.00004
|
NM_005609.4(PYGM):c.1375A>G (p.Ile459Val)
|
rs377371768
|
0.00004
|
NM_005609.4(PYGM):c.149G>A (p.Arg50Gln)
|
rs758175735
|
0.00004
|
NM_005609.4(PYGM):c.2312G>A (p.Arg771Gln)
|
rs150911354
|
0.00004
|
NM_005609.4(PYGM):c.2375A>G (p.Tyr792Cys)
|
rs757292296
|
0.00004
|
NM_005609.4(PYGM):c.727C>T (p.Arg243Cys)
|
rs141055359
|
0.00004
|
NM_005609.4(PYGM):c.752A>G (p.Asn251Ser)
|
rs143071876
|
0.00004
|
NM_005609.4(PYGM):c.929G>A (p.Arg310His)
|
rs759130375
|
0.00004
|
NM_005908.4(MANBA):c.1131G>C (p.Gln377His)
|
rs762175890
|
0.00004
|
NM_005908.4(MANBA):c.124G>A (p.Gly42Arg)
|
rs776864457
|
0.00004
|
NM_005908.4(MANBA):c.1430A>G (p.Tyr477Cys)
|
rs200133664
|
0.00004
|
NM_005908.4(MANBA):c.2378C>T (p.Pro793Leu)
|
rs376410219
|
0.00004
|
NM_005908.4(MANBA):c.347T>C (p.Ile116Thr)
|
rs775841860
|
0.00004
|
NM_006279.5(ST3GAL3):c.1070A>T (p.Glu357Val)
|
rs141947405
|
0.00004
|
NM_006488.3(KHK):c.-379T>A
|
rs886055883
|
0.00004
|
NM_006488.3(KHK):c.210-253G>A
|
rs780961189
|
0.00004
|
NM_006488.3(KHK):c.473C>A (p.Thr158Asn)
|
rs773003580
|
0.00004
|
NM_006488.3(KHK):c.698T>G (p.Leu233Arg)
|
rs768902999
|
0.00004
|
NM_006516.4(SLC2A1):c.-129G>T
|
rs936174986
|
0.00004
|
NM_006516.4(SLC2A1):c.-192G>C
|
rs886046342
|
0.00004
|
NM_006516.4(SLC2A1):c.-194G>A
|
rs984267596
|
0.00004
|
NM_006516.4(SLC2A1):c.1396G>A (p.Gly466Ser)
|
rs138139624
|
0.00004
|
NM_006721.4(ADK):c.*296G>A
|
rs527621742
|
0.00004
|
NM_006755.2(TALDO1):c.726C>T (p.Gly242=)
|
rs764708645
|
0.00004
|
NM_006765.4(TUSC3):c.557C>T (p.Thr186Met)
|
rs768790010
|
0.00004
|
NM_006859.4(LIAS):c.331T>A (p.Cys111Ser)
|
rs747124026
|
0.00004
|
NM_006859.4(LIAS):c.779G>A (p.Arg260His)
|
rs367701436
|
0.00004
|
NM_012203.2(GRHPR):c.255C>T (p.Ile85=)
|
rs372985143
|
0.00004
|
NM_012203.2(GRHPR):c.384G>A (p.Glu128=)
|
rs372351685
|
0.00004
|
NM_012434.5(SLC17A5):c.*1696T>C
|
rs886061724
|
0.00004
|
NM_012434.5(SLC17A5):c.*373G>A
|
rs886061734
|
0.00004
|
NM_012434.5(SLC17A5):c.646C>G (p.Leu216Val)
|
rs781359811
|
0.00004
|
NM_012434.5(SLC17A5):c.704C>T (p.Thr235Ile)
|
rs540645365
|
0.00004
|
NM_014026.6(DCPS):c.329A>G (p.Asn110Ser)
|
rs375853628
|
0.00004
|
NM_014026.6(DCPS):c.386C>T (p.Thr129Met)
|
rs201550193
|
0.00004
|
NM_014026.6(DCPS):c.541G>A (p.Asp181Asn)
|
rs772776014
|
0.00004
|
NM_014806.5(RUSC2):c.2132G>A (p.Arg711Gln)
|
rs200756109
|
0.00004
|
NM_014806.5(RUSC2):c.3908A>G (p.Lys1303Arg)
|
rs761728678
|
0.00004
|
NM_016203.4(PRKAG2):c.488C>T (p.Pro163Leu)
|
rs876657963
|
0.00004
|
NM_016203.4(PRKAG2):c.581C>T (p.Ser194Leu)
|
rs145669999
|
0.00004
|
NM_016203.4(PRKAG2):c.590C>T (p.Pro197Leu)
|
rs368637364
|
0.00004
|
NM_016219.5(MAN1B1):c.*191G>A
|
rs1035235945
|
0.00004
|
NM_016219.5(MAN1B1):c.1180A>G (p.Thr394Ala)
|
rs369551783
|
0.00004
|
NM_016219.5(MAN1B1):c.1321A>G (p.Met441Val)
|
rs752395239
|
0.00004
|
NM_016219.5(MAN1B1):c.1507G>A (p.Glu503Lys)
|
rs757690679
|
0.00004
|
NM_016219.5(MAN1B1):c.1695G>A (p.Thr565=)
|
rs372125925
|
0.00004
|
NM_016219.5(MAN1B1):c.2079G>A (p.Leu693=)
|
rs558619741
|
0.00004
|
NM_016219.5(MAN1B1):c.2080C>G (p.Pro694Ala)
|
rs575503145
|
0.00004
|
NM_016219.5(MAN1B1):c.426G>A (p.Ala142=)
|
rs199738190
|
0.00004
|
NM_016219.5(MAN1B1):c.620+9C>T
|
rs535697514
|
0.00004
|
NM_017721.5(CC2D1A):c.1442C>T (p.Ala481Val)
|
rs201665162
|
0.00004
|
NM_017721.5(CC2D1A):c.1724G>A (p.Arg575His)
|
rs760191095
|
0.00004
|
NM_017721.5(CC2D1A):c.542G>A (p.Arg181His)
|
rs542798158
|
0.00004
|
NM_017755.6(NSUN2):c.1022-3C>T
|
rs370183139
|
0.00004
|
NM_021956.5(GRIK2):c.1138A>T (p.Thr380Ser)
|
rs555425016
|
0.00004
|
NM_021957.4(GYS2):c.1790A>G (p.Asp597Gly)
|
rs767441371
|
0.00004
|
NM_021957.4(GYS2):c.2004C>T (p.Tyr668=)
|
rs571493564
|
0.00004
|
NM_021957.4(GYS2):c.470C>T (p.Ser157Phe)
|
rs774019135
|
0.00004
|
NM_021957.4(GYS2):c.50A>G (p.Gln17Arg)
|
rs376935348
|
0.00004
|
NM_021957.4(GYS2):c.942-12G>A
|
rs367916210
|
0.00004
|
NM_022124.6(CDH23):c.5692G>A (p.Ala1898Thr)
|
rs548937425
|
0.00004
|
NM_024298.5(MBOAT7):c.1366A>G (p.Lys456Glu)
|
rs774928119
|
0.00004
|
NM_024824.5(ZC3H14):c.1133A>G (p.Lys378Arg)
|
rs778564417
|
0.00004
|
NM_024989.4(PGAP1):c.1721G>A (p.Arg574Gln)
|
rs769577378
|
0.00004
|
NM_024989.4(PGAP1):c.2408G>A (p.Arg803His)
|
rs745554603
|
0.00004
|
NM_031229.4(RBCK1):c.1055G>A (p.Arg352Gln)
|
rs776253021
|
0.00004
|
NM_031229.4(RBCK1):c.132A>T (p.Gln44His)
|
rs145132343
|
0.00004
|
NM_031229.4(RBCK1):c.1480C>T (p.Arg494Cys)
|
rs749184826
|
0.00004
|
NM_031229.4(RBCK1):c.1489G>A (p.Val497Ile)
|
rs371527119
|
0.00004
|
NM_031229.4(RBCK1):c.59C>T (p.Ala20Val)
|
rs780587700
|
0.00004
|
NM_031229.4(RBCK1):c.807C>G (p.Asp269Glu)
|
rs111283441
|
0.00004
|
NM_031229.4(RBCK1):c.833A>T (p.Glu278Val)
|
rs758729708
|
0.00004
|
NM_031229.4(RBCK1):c.940C>T (p.Arg314Cys)
|
rs144105841
|
0.00004
|
NM_031229.4(RBCK1):c.941G>A (p.Arg314His)
|
rs759203606
|
0.00004
|
NM_033159.4(HYAL1):c.1292G>A (p.Arg431Gln)
|
rs368957453
|
0.00004
|
NM_033159.4(HYAL1):c.14T>C (p.Leu5Pro)
|
rs138329304
|
0.00004
|
NM_033159.4(HYAL1):c.483T>C (p.Asp161=)
|
rs368360137
|
0.00004
|
NM_053013.4(ENO3):c.11A>C (p.Gln4Pro)
|
rs138211167
|
0.00004
|
NM_053013.4(ENO3):c.548G>A (p.Arg183His)
|
rs756594079
|
0.00004
|
NM_053013.4(ENO3):c.64G>A (p.Val22Met)
|
rs148673221
|
0.00004
|
NM_053013.4(ENO3):c.806G>A (p.Arg269Gln)
|
rs754758809
|
0.00004
|
NM_053013.4(ENO3):c.83A>C (p.Lys28Thr)
|
rs751639631
|
0.00004
|
NM_138413.4(HOGA1):c.216C>T (p.Phe72=)
|
rs780606715
|
0.00004
|
NM_138413.4(HOGA1):c.269T>A (p.Leu90His)
|
rs373226228
|
0.00004
|
NM_138413.4(HOGA1):c.443C>T (p.Ala148Val)
|
rs149896778
|
0.00004
|
NM_138413.4(HOGA1):c.448C>T (p.Leu150Phe)
|
rs745919223
|
0.00004
|
NM_138413.4(HOGA1):c.538G>A (p.Val180Met)
|
rs114177505
|
0.00004
|
NM_138413.4(HOGA1):c.720C>T (p.Cys240=)
|
rs183301169
|
0.00004
|
NM_138413.4(HOGA1):c.745C>G (p.Gln249Glu)
|
rs368276974
|
0.00004
|
NM_152419.3(HGSNAT):c.*1112C>T
|
rs1403363860
|
0.00004
|
NM_152419.3(HGSNAT):c.*1378C>T
|
rs886062960
|
0.00004
|
NM_152419.3(HGSNAT):c.*2233G>A
|
rs372413542
|
0.00004
|
NM_152419.3(HGSNAT):c.*2643G>A
|
rs141803972
|
0.00004
|
NM_152419.3(HGSNAT):c.-3G>C
|
rs1162962895
|
0.00004
|
NM_152419.3(HGSNAT):c.1003C>T (p.Leu335Phe)
|
rs369280586
|
0.00004
|
NM_152419.3(HGSNAT):c.1250+6C>T
|
rs762012939
|
0.00004
|
NM_152419.3(HGSNAT):c.1793A>G (p.Lys598Arg)
|
rs553588867
|
0.00004
|
NM_152419.3(HGSNAT):c.1805A>G (p.Asn602Ser)
|
rs754415813
|
0.00004
|
NM_152419.3(HGSNAT):c.259G>A (p.Val87Ile)
|
rs374287774
|
0.00004
|
NM_152419.3(HGSNAT):c.277G>T (p.Ala93Ser)
|
rs368452647
|
0.00004
|
NM_152419.3(HGSNAT):c.461C>G (p.Ala154Gly)
|
rs373688314
|
0.00004
|
NM_152419.3(HGSNAT):c.826A>G (p.Thr276Ala)
|
rs201952563
|
0.00004
|
NM_152419.3(HGSNAT):c.827C>G (p.Thr276Arg)
|
rs751331792
|
0.00004
|
NM_152419.3(HGSNAT):c.995A>G (p.Asn332Ser)
|
rs374892647
|
0.00004
|
NM_153281.2(HYAL1):c.-191+15A>G
|
rs886058695
|
0.00004
|
NM_153747.2(PIGC):c.739A>G (p.Ser247Gly)
|
rs751068367
|
0.00004
|
NM_175914.5(HNF4A):c.*1828G>A
|
rs759101859
|
0.00004
|
NM_175914.5(HNF4A):c.*1C>A
|
rs201330472
|
0.00004
|
NM_175914.5(HNF4A):c.*2297C>A
|
rs1341485123
|
0.00004
|
NM_175914.5(HNF4A):c.358T>C (p.Ser120Pro)
|
rs780342162
|
0.00004
|
NM_175914.5(HNF4A):c.445G>A (p.Gly149Arg)
|
rs747928745
|
0.00004
|
NM_175914.5(HNF4A):c.50-4700G>A
|
rs568730599
|
0.00004
|
NM_175914.5(HNF4A):c.68G>A (p.Gly23Asp)
|
rs773661614
|
0.00004
|
NM_175914.5(HNF4A):c.768G>C (p.Glu256Asp)
|
rs193922477
|
0.00004
|
NM_175914.5(HNF4A):c.863G>A (p.Arg288Gln)
|
rs371124358
|
0.00004
|
NM_198586.3(NHLRC1):c.1064C>T (p.Pro355Leu)
|
rs144863228
|
0.00004
|
NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr)
|
rs370044232
|
0.00004
|
NM_198586.3(NHLRC1):c.424G>C (p.Val142Leu)
|
rs376655413
|
0.00004
|
NM_000027.4(AGA):c.854C>T (p.Ala285Val)
|
rs763018918
|
0.00003
|
NM_000030.3(AGXT):c.-14G>A
|
rs376396832
|
0.00003
|
NM_000030.3(AGXT):c.1071+13G>A
|
rs758413374
|
0.00003
|
NM_000030.3(AGXT):c.27C>A (p.Thr9=)
|
rs180177188
|
0.00003
|
NM_000030.3(AGXT):c.551C>T (p.Ser184Leu)
|
rs536205988
|
0.00003
|
NM_000030.3(AGXT):c.742G>T (p.Ala248Ser)
|
rs180177260
|
0.00003
|
NM_000035.4(ALDOB):c.*209C>T
|
rs1038724691
|
0.00003
|
NM_000035.4(ALDOB):c.128G>A (p.Arg43His)
|
rs780442649
|
0.00003
|
NM_000035.4(ALDOB):c.517C>T (p.Arg173Cys)
|
rs778058461
|
0.00003
|
NM_000046.5(ARSB):c.*1326G>T
|
rs974942925
|
0.00003
|
NM_000046.5(ARSB):c.-19G>A
|
rs575001282
|
0.00003
|
NM_000046.5(ARSB):c.1502G>A (p.Arg501His)
|
rs190643827
|
0.00003
|
NM_000046.5(ARSB):c.215T>C (p.Leu72Pro)
|
rs397514441
|
0.00003
|
NM_000046.5(ARSB):c.29C>T (p.Pro10Leu)
|
rs757310157
|
0.00003
|
NM_000046.5(ARSB):c.401A>G (p.Lys134Arg)
|
rs371631385
|
0.00003
|
NM_000046.5(ARSB):c.43C>G (p.Pro15Ala)
|
rs778159305
|
0.00003
|
NM_000046.5(ARSB):c.729G>A (p.Glu243=)
|
rs144029271
|
0.00003
|
NM_000108.5(DLD):c.161A>G (p.Tyr54Cys)
|
rs763303046
|
0.00003
|
NM_000108.5(DLD):c.92C>G (p.Pro31Arg)
|
rs776872575
|
0.00003
|
NM_000147.5(FUCA1):c.*342C>A
|
rs1023386054
|
0.00003
|
NM_000147.5(FUCA1):c.*97T>C
|
rs1639121464
|
0.00003
|
NM_000147.5(FUCA1):c.1190C>T (p.Ala397Val)
|
rs766121368
|
0.00003
|
NM_000147.5(FUCA1):c.492G>C (p.Leu164Phe)
|
rs754110650
|
0.00003
|
NM_000147.5(FUCA1):c.923G>A (p.Arg308His)
|
rs372537257
|
0.00003
|
NM_000151.4(G6PC1):c.993G>A (p.Ala331=)
|
rs369238258
|
0.00003
|
NM_000152.5(GAA):c.1075+12T>G
|
rs370842677
|
0.00003
|
NM_000152.5(GAA):c.1153C>T (p.Arg385Cys)
|
rs767821988
|
0.00003
|
NM_000152.5(GAA):c.1264C>T (p.Arg422Trp)
|
rs776704385
|
0.00003
|
NM_000152.5(GAA):c.1326+1G>A
|
rs1205507761
|
0.00003
|
NM_000152.5(GAA):c.1411G>A (p.Glu471Lys)
|
rs189402693
|
0.00003
|
NM_000152.5(GAA):c.1417G>A (p.Gly473Ser)
|
rs201409613
|
0.00003
|
NM_000152.5(GAA):c.1418G>C (p.Gly473Ala)
|
rs886043976
|
0.00003
|
NM_000152.5(GAA):c.1661C>T (p.Ala554Val)
|
rs772260861
|
0.00003
|
NM_000152.5(GAA):c.17C>T (p.Pro6Leu)
|
rs771409180
|
0.00003
|
NM_000152.5(GAA):c.1849G>A (p.Val617Met)
|
rs767977395
|
0.00003
|
NM_000152.5(GAA):c.1909C>A (p.Leu637Met)
|
rs763301606
|
0.00003
|
NM_000152.5(GAA):c.1930G>T (p.Ala644Ser)
|
rs752735168
|
0.00003
|
NM_000152.5(GAA):c.2069C>T (p.Pro690Leu)
|
rs532624326
|
0.00003
|
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg)
|
rs759292700
|
0.00003
|
NM_000152.5(GAA):c.2154C>T (p.Val718=)
|
rs1800311
|
0.00003
|
NM_000152.5(GAA):c.2190-4G>A
|
rs759974338
|
0.00003
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
NM_000152.5(GAA):c.2365C>G (p.Pro789Ala)
|
rs201485261
|
0.00003
|
NM_000152.5(GAA):c.2455C>T (p.Arg819Trp)
|
rs61736895
|
0.00003
|
NM_000152.5(GAA):c.2656G>A (p.Val886Met)
|
rs372802420
|
0.00003
|
NM_000152.5(GAA):c.2758G>A (p.Gly920Ser)
|
rs375021198
|
0.00003
|
NM_000152.5(GAA):c.277G>A (p.Ala93Thr)
|
rs142481170
|
0.00003
|
NM_000152.5(GAA):c.2799+4A>G
|
rs778032599
|
0.00003
|
NM_000152.5(GAA):c.2842C>T (p.Leu948Phe)
|
rs769312350
|
0.00003
|
NM_000152.5(GAA):c.292A>T (p.Ile98Phe)
|
rs745963730
|
0.00003
|
NM_000152.5(GAA):c.319G>A (p.Gly107Ser)
|
rs151323405
|
0.00003
|
NM_000152.5(GAA):c.31C>T (p.Arg11Trp)
|
rs772394815
|
0.00003
|
NM_000152.5(GAA):c.426C>A (p.Ser142Arg)
|
rs762255493
|
0.00003
|
NM_000152.5(GAA):c.503G>A (p.Arg168Gln)
|
rs376685205
|
0.00003
|
NM_000152.5(GAA):c.686G>A (p.Arg229His)
|
rs776509432
|
0.00003
|
NM_000152.5(GAA):c.767A>G (p.Tyr256Cys)
|
rs200509552
|
0.00003
|
NM_000152.5(GAA):c.955+14C>A
|
rs756921041
|
0.00003
|
NM_000154.2(GALK1):c.-44C>T
|
rs758902207
|
0.00003
|
NM_000154.2(GALK1):c.1024C>T (p.Arg342Cys)
|
rs769167240
|
0.00003
|
NM_000154.2(GALK1):c.382G>A (p.Val128Met)
|
rs767156604
|
0.00003
|
NM_000154.2(GALK1):c.552C>G (p.Ile184Met)
|
rs773416476
|
0.00003
|
NM_000154.2(GALK1):c.94G>A (p.Val32Met)
|
rs104894576
|
0.00003
|
NM_000155.4(GALT):c.200G>A (p.Arg67His)
|
rs758430398
|
0.00003
|
NM_000155.4(GALT):c.640G>A (p.Gly214Arg)
|
rs1413579895
|
0.00003
|
NM_000155.4(GALT):c.857A>G (p.Tyr286Cys)
|
rs367543262
|
0.00003
|
NM_000155.4(GALT):c.904+2T>G
|
rs886063885
|
0.00003
|
NM_000155.4(GALT):c.957C>T (p.His319=)
|
rs111033792
|
0.00003
|
NM_000158.4(GBE1):c.*395A>G
|
rs138608612
|
0.00003
|
NM_000158.4(GBE1):c.1286G>C (p.Gly429Ala)
|
rs745594101
|
0.00003
|
NM_000158.4(GBE1):c.143+6G>A
|
rs371048718
|
0.00003
|
NM_000158.4(GBE1):c.143+8C>G
|
rs750447886
|
0.00003
|
NM_000158.4(GBE1):c.1460A>G (p.Asp487Gly)
|
rs747404758
|
0.00003
|
NM_000158.4(GBE1):c.153G>C (p.Gln51His)
|
rs760281369
|
0.00003
|
NM_000158.4(GBE1):c.20C>T (p.Pro7Leu)
|
rs765422566
|
0.00003
|
NM_000158.4(GBE1):c.293T>G (p.Val98Gly)
|
rs775486403
|
0.00003
|
NM_000158.4(GBE1):c.43G>A (p.Glu15Lys)
|
rs774709930
|
0.00003
|
NM_000158.4(GBE1):c.583C>T (p.Arg195Trp)
|
rs371086146
|
0.00003
|
NM_000162.5(GCK):c.-279C>T
|
rs997877536
|
0.00003
|
NM_000162.5(GCK):c.-5T>C
|
rs193922251
|
0.00003
|
NM_000162.5(GCK):c.142G>A (p.Glu48Lys)
|
rs759514960
|
0.00003
|
NM_000162.5(GCK):c.198A>G (p.Pro66=)
|
rs377410513
|
0.00003
|
NM_000162.5(GCK):c.301G>A (p.Val101Met)
|
rs762922697
|
0.00003
|
NM_000175.5(GPI):c.-9A>G
|
rs552574934
|
0.00003
|
NM_000175.5(GPI):c.475G>A (p.Gly159Ser)
|
rs137853582
|
0.00003
|
NM_000181.4(GUSB):c.-20C>T
|
rs577269089
|
0.00003
|
NM_000181.4(GUSB):c.1796C>T (p.Thr599Met)
|
rs765983374
|
0.00003
|
NM_000181.4(GUSB):c.1831C>T (p.Arg611Trp)
|
rs121918176
|
0.00003
|
NM_000181.4(GUSB):c.323C>T (p.Pro108Leu)
|
rs1268678201
|
0.00003
|
NM_000199.5(SGSH):c.*309G>A
|
rs566654466
|
0.00003
|
NM_000199.5(SGSH):c.*459C>T
|
rs532130517
|
0.00003
|
NM_000199.5(SGSH):c.1303C>T (p.Arg435Cys)
|
rs373496399
|
0.00003
|
NM_000199.5(SGSH):c.1361A>T (p.Asp454Val)
|
rs145490072
|
0.00003
|
NM_000199.5(SGSH):c.1456G>A (p.Val486Ile)
|
rs764585957
|
0.00003
|
NM_000199.5(SGSH):c.391G>A (p.Val131Met)
|
rs370636303
|
0.00003
|
NM_000199.5(SGSH):c.585G>C (p.Glu195Asp)
|
rs756193095
|
0.00003
|
NM_000199.5(SGSH):c.633C>A (p.Thr211=)
|
rs187147954
|
0.00003
|
NM_000199.5(SGSH):c.808T>C (p.Phe270Leu)
|
rs570170198
|
0.00003
|
NM_000199.5(SGSH):c.950-65C>T
|
rs537972451
|
0.00003
|
NM_000202.8(IDS):c.1270G>A (p.Val424Ile)
|
rs373820890
|
0.00003
|
NM_000203.5(IDUA):c.1270G>A (p.Ala424Thr)
|
rs752725918
|
0.00003
|
NM_000203.5(IDUA):c.1622G>T (p.Cys541Phe)
|
rs950213013
|
0.00003
|
NM_000203.5(IDUA):c.1772C>T (p.Ala591Val)
|
rs138826105
|
0.00003
|
NM_000207.3(INS):c.130G>A (p.Gly44Arg)
|
rs765512575
|
0.00003
|
NM_000207.3(INS):c.66C>T (p.Ala22=)
|
rs375371953
|
0.00003
|
NM_000209.4(PDX1):c.719C>G (p.Pro240Arg)
|
rs753881947
|
0.00003
|
NM_000209.4(PDX1):c.820G>T (p.Val274Phe)
|
rs930365498
|
0.00003
|
NM_000262.3(NAGA):c.*1252T>C
|
rs886057593
|
0.00003
|
NM_000262.3(NAGA):c.110G>A (p.Arg37His)
|
rs199834981
|
0.00003
|
NM_000262.3(NAGA):c.638G>A (p.Arg213His)
|
rs781499383
|
0.00003
|
NM_000262.3(NAGA):c.859C>T (p.Arg287Cys)
|
rs368220690
|
0.00003
|
NM_000263.4(NAGLU):c.1285G>A (p.Ala429Thr)
|
rs372165410
|
0.00003
|
NM_000263.4(NAGLU):c.1786G>T (p.Gly596Cys)
|
rs772901588
|
0.00003
|
NM_000263.4(NAGLU):c.1877G>A (p.Arg626Gln)
|
rs376545731
|
0.00003
|
NM_000263.4(NAGLU):c.2159G>A (p.Arg720Gln)
|
rs774971794
|
0.00003
|
NM_000263.4(NAGLU):c.455G>A (p.Arg152Gln)
|
rs141018386
|
0.00003
|
NM_000263.4(NAGLU):c.845C>T (p.Ala282Val)
|
rs144771528
|
0.00003
|
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu)
|
rs750625891
|
0.00003
|
NM_000289.6(PFKM):c.*668G>T
|
rs535423254
|
0.00003
|
NM_000289.6(PFKM):c.1303G>A (p.Val435Ile)
|
rs774425888
|
0.00003
|
NM_000289.6(PFKM):c.500A>G (p.Asn167Ser)
|
rs143485300
|
0.00003
|
NM_000290.4(PGAM2):c.719G>A (p.Arg240Gln)
|
rs369482159
|
0.00003
|
NM_000291.4(PGK1):c.892A>G (p.Thr298Ala)
|
rs782119990
|
0.00003
|
NM_000292.3(PHKA2):c.1576G>A (p.Asp526Asn)
|
rs778051353
|
0.00003
|
NM_000292.3(PHKA2):c.1603G>A (p.Asp535Asn)
|
rs756254299
|
0.00003
|
NM_000292.3(PHKA2):c.200G>A (p.Arg67His)
|
rs768524028
|
0.00003
|
NM_000293.3(PHKB):c.604A>G (p.Ile202Val)
|
rs367667135
|
0.00003
|
NM_000293.3(PHKB):c.914T>C (p.Phe305Ser)
|
rs746454503
|
0.00003
|
NM_000294.3(PHKG2):c.*47G>A
|
rs767591090
|
0.00003
|
NM_000294.3(PHKG2):c.1030C>T (p.Arg344Trp)
|
rs564686049
|
0.00003
|
NM_000294.3(PHKG2):c.152C>T (p.Ala51Val)
|
rs770253840
|
0.00003
|
NM_000294.3(PHKG2):c.911C>A (p.Pro304His)
|
rs781099286
|
0.00003
|
NM_000298.6(PKLR):c.1250C>T (p.Ala417Val)
|
rs756549612
|
0.00003
|
NM_000298.6(PKLR):c.1303C>T (p.Arg435Trp)
|
rs142238268
|
0.00003
|
NM_000298.6(PKLR):c.790C>T (p.Leu264=)
|
rs199959447
|
0.00003
|
NM_000298.6(PKLR):c.918C>A (p.His306Gln)
|
rs141571402
|
0.00003
|
NM_000308.4(CTSA):c.-17G>A
|
rs372800409
|
0.00003
|
NM_000308.4(CTSA):c.-6G>A
|
rs1471695726
|
0.00003
|
NM_000308.4(CTSA):c.1040G>A (p.Arg347Gln)
|
rs375345060
|
0.00003
|
NM_000308.4(CTSA):c.1124G>A (p.Arg375Gln)
|
rs370763298
|
0.00003
|
NM_000308.4(CTSA):c.1268G>A (p.Arg423His)
|
rs754739494
|
0.00003
|
NM_000308.4(CTSA):c.1315G>A (p.Gly439Ser)
|
rs137854547
|
0.00003
|
NM_000308.4(CTSA):c.692+13G>A
|
rs371053390
|
0.00003
|
NM_000343.4(SLC5A1):c.*1842C>T
|
rs1039766018
|
0.00003
|
NM_000343.4(SLC5A1):c.*451A>G
|
rs200434456
|
0.00003
|
NM_000343.4(SLC5A1):c.1232C>T (p.Ala411Val)
|
rs751571109
|
0.00003
|
NM_000343.4(SLC5A1):c.44G>A (p.Arg15Gln)
|
rs142249046
|
0.00003
|
NM_000343.4(SLC5A1):c.919A>G (p.Met307Val)
|
rs767572551
|
0.00003
|
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.1407A>C (p.Leu469=)
|
rs751643248
|
0.00003
|
NM_000352.6(ABCC8):c.1484G>A (p.Arg495Gln)
|
rs1420601296
|
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.2206G>T (p.Ala736Ser)
|
rs191697443
|
0.00003
|
NM_000352.6(ABCC8):c.2977G>A (p.Ala993Thr)
|
rs148342166
|
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.4051G>A (p.Val1351Met)
|
rs149331388
|
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.787T>G (p.Tyr263Asp)
|
rs778892038
|
0.00003
|
NM_000352.6(ABCC8):c.794G>A (p.Arg265Gln)
|
rs757018137
|
0.00003
|
NM_000352.6(ABCC8):c.822+3C>T
|
rs370697909
|
0.00003
|
NM_000365.6(TPI1):c.*260G>A
|
rs782764628
|
0.00003
|
NM_000365.6(TPI1):c.599C>T (p.Ala200Val)
|
rs139532537
|
0.00003
|
NM_000365.6(TPI1):c.617G>A (p.Arg206His)
|
rs782417309
|
0.00003
|
NM_000365.6(TPI1):c.730A>G (p.Ile244Val)
|
rs143000041
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)
|
rs137852342
|
0.00003
|
NM_000404.4(GLB1):c.1915G>A (p.Val639Met)
|
rs1222326938
|
0.00003
|
NM_000404.4(GLB1):c.2016A>G (p.Ser672=)
|
rs756403702
|
0.00003
|
NM_000404.4(GLB1):c.335A>C (p.His112Pro)
|
rs753965226
|
0.00003
|
NM_000404.4(GLB1):c.4C>A (p.Pro2Thr)
|
rs772539129
|
0.00003
|
NM_000404.4(GLB1):c.734-8A>G
|
rs398123357
|
0.00003
|
NM_000434.4(NEU1):c.*269C>T
|
rs886061288
|
0.00003
|
NM_000434.4(NEU1):c.249A>C (p.Thr83=)
|
rs954742285
|
0.00003
|
NM_000458.4(HNF1B):c.100C>T (p.Leu34=)
|
rs373201245
|
0.00003
|
NM_000458.4(HNF1B):c.1207A>T (p.Ile403Phe)
|
rs747110790
|
0.00003
|
NM_000458.4(HNF1B):c.9C>T (p.Ser3=)
|
rs773256244
|
0.00003
|
NM_000507.3(FBP1):c.-215G>C
|
rs987543611
|
0.00003
|
NM_000507.4(FBP1):c.-18G>T
|
rs1006994685
|
0.00003
|
NM_000507.4(FBP1):c.649G>A (p.Ala217Thr)
|
rs569127795
|
0.00003
|
NM_000512.5(GALNS):c.*610G>T
|
rs755706847
|
0.00003
|
NM_000512.5(GALNS):c.1070C>T (p.Pro357Leu)
|
rs769748679
|
0.00003
|
NM_000512.5(GALNS):c.1198G>A (p.Ala400Thr)
|
rs2303270
|
0.00003
|
NM_000512.5(GALNS):c.1238G>A (p.Arg413Lys)
|
rs374798170
|
0.00003
|
NM_000512.5(GALNS):c.1485C>G (p.Asn495Lys)
|
rs886039377
|
0.00003
|
NM_000512.5(GALNS):c.640C>G (p.Leu214Val)
|
rs1424752390
|
0.00003
|
NM_000512.5(GALNS):c.664C>T (p.Arg222Trp)
|
rs146963745
|
0.00003
|
NM_000512.5(GALNS):c.709G>A (p.Ala237Thr)
|
rs550139020
|
0.00003
|
NM_000512.5(GALNS):c.772G>A (p.Val258Ile)
|
rs779257235
|
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.579C>T (p.His193=)
|
rs762089425
|
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_000525.4(KCNJ11):c.936C>T (p.Gly312=)
|
rs139445409
|
0.00003
|
NM_000528.4(MAN2B1):c.1022C>T (p.Ala341Val)
|
rs574049175
|
0.00003
|
NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys)
|
rs370760999
|
0.00003
|
NM_000528.4(MAN2B1):c.1230+5G>T
|
rs1398531876
|
0.00003
|
NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu)
|
rs141650075
|
0.00003
|
NM_000528.4(MAN2B1):c.1444C>T (p.Arg482Trp)
|
rs533428309
|
0.00003
|
NM_000528.4(MAN2B1):c.1753C>T (p.Arg585Cys)
|
rs764543590
|
0.00003
|
NM_000528.4(MAN2B1):c.1779A>G (p.Pro593=)
|
rs146778702
|
0.00003
|
NM_000528.4(MAN2B1):c.179C>T (p.Pro60Leu)
|
rs145163643
|
0.00003
|
NM_000528.4(MAN2B1):c.1A>G (p.Met1Val)
|
rs967834240
|
0.00003
|
NM_000528.4(MAN2B1):c.2145G>A (p.Ser715=)
|
rs776158673
|
0.00003
|
NM_000528.4(MAN2B1):c.2270G>A (p.Arg757Gln)
|
rs772264672
|
0.00003
|
NM_000528.4(MAN2B1):c.2298C>T (p.Asn766=)
|
rs746514019
|
0.00003
|
NM_000528.4(MAN2B1):c.2355+6T>A
|
rs1052970162
|
0.00003
|
NM_000528.4(MAN2B1):c.2639A>G (p.Asn880Ser)
|
rs1466468362
|
0.00003
|
NM_000528.4(MAN2B1):c.2864C>T (p.Thr955Met)
|
rs771210668
|
0.00003
|
NM_000528.4(MAN2B1):c.785A>G (p.Asn262Ser)
|
rs944317989
|
0.00003
|
NM_000528.4(MAN2B1):c.953C>T (p.Ser318Leu)
|
rs774034389
|
0.00003
|
NM_000545.8(HNF1A):c.1322C>A (p.Thr441Lys)
|
rs371544082
|
0.00003
|
NM_000545.8(HNF1A):c.139G>C (p.Gly47Arg)
|
rs373180062
|
0.00003
|
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys)
|
rs483353044
|
0.00003
|
NM_000545.8(HNF1A):c.30G>A (p.Thr10=)
|
rs746020457
|
0.00003
|
NM_000545.8(HNF1A):c.499G>A (p.Val167Ile)
|
rs371759652
|
0.00003
|
NM_000642.3(AGL):c.*1256A>C
|
rs886044932
|
0.00003
|
NM_000642.3(AGL):c.*1359A>G
|
rs919030085
|
0.00003
|
NM_000642.3(AGL):c.*794A>G
|
rs886044929
|
0.00003
|
NM_000642.3(AGL):c.1042G>A (p.Val348Ile)
|
rs544658310
|
0.00003
|
NM_000642.3(AGL):c.1864A>C (p.Met622Leu)
|
rs145517369
|
0.00003
|
NM_000642.3(AGL):c.1936A>G (p.Ile646Val)
|
rs376666809
|
0.00003
|
NM_000642.3(AGL):c.2024G>A (p.Arg675Gln)
|
rs752995564
|
0.00003
|
NM_000642.3(AGL):c.2069G>T (p.Gly690Val)
|
rs749075109
|
0.00003
|
NM_000642.3(AGL):c.224A>G (p.Asp75Gly)
|
rs142368729
|
0.00003
|
NM_000642.3(AGL):c.2402A>G (p.Asp801Gly)
|
rs778492877
|
0.00003
|
NM_000642.3(AGL):c.2488G>C (p.Glu830Gln)
|
rs752153469
|
0.00003
|
NM_000642.3(AGL):c.2575G>A (p.Ala859Thr)
|
rs773083396
|
0.00003
|
NM_000642.3(AGL):c.2654A>G (p.Asp885Gly)
|
rs867149434
|
0.00003
|
NM_000642.3(AGL):c.2903A>G (p.Asp968Gly)
|
rs1447342458
|
0.00003
|
NM_000642.3(AGL):c.294A>G (p.Gly98=)
|
rs746550765
|
0.00003
|
NM_000642.3(AGL):c.2950-5T>G
|
rs760229683
|
0.00003
|
NM_000642.3(AGL):c.30A>T (p.Leu10Phe)
|
rs746137555
|
0.00003
|
NM_000642.3(AGL):c.3242G>A (p.Cys1081Tyr)
|
rs147375385
|
0.00003
|
NM_000642.3(AGL):c.3345A>T (p.Gly1115=)
|
rs758265909
|
0.00003
|
NM_000642.3(AGL):c.3346C>T (p.Arg1116Cys)
|
rs773625464
|
0.00003
|
NM_000642.3(AGL):c.3437C>T (p.Ala1146Val)
|
rs867496787
|
0.00003
|
NM_000642.3(AGL):c.3532C>T (p.Pro1178Ser)
|
rs769812980
|
0.00003
|
NM_000642.3(AGL):c.3546G>T (p.Met1182Ile)
|
rs758562610
|
0.00003
|
NM_000642.3(AGL):c.3611T>C (p.Ile1204Thr)
|
rs777686689
|
0.00003
|
NM_000642.3(AGL):c.3677T>C (p.Ile1226Thr)
|
rs749118487
|
0.00003
|
NM_000642.3(AGL):c.3890T>G (p.Leu1297Trp)
|
rs749445010
|
0.00003
|
NM_000642.3(AGL):c.4124A>G (p.Tyr1375Cys)
|
rs886042149
|
0.00003
|
NM_000642.3(AGL):c.4283A>C (p.Tyr1428Ser)
|
rs150532164
|
0.00003
|
NM_000642.3(AGL):c.736C>G (p.Pro246Ala)
|
rs370391954
|
0.00003
|
NM_000642.3(AGL):c.959-3T>A
|
rs374766709
|
0.00003
|
NM_000891.3(KCNJ2):c.*122G>A
|
rs886053324
|
0.00003
|
NM_000891.3(KCNJ2):c.*124G>A
|
rs886053325
|
0.00003
|
NM_000891.3(KCNJ2):c.*2698T>C
|
rs368668294
|
0.00003
|
NM_000891.3(KCNJ2):c.*3032A>G
|
rs548485707
|
0.00003
|
NM_000891.3(KCNJ2):c.-348G>A
|
rs993406508
|
0.00003
|
NM_000891.3(KCNJ2):c.1205C>T (p.Thr402Met)
|
rs759070406
|
0.00003
|
NM_000891.3(KCNJ2):c.1259C>T (p.Pro420Leu)
|
rs749707062
|
0.00003
|
NM_000891.3(KCNJ2):c.23G>A (p.Arg8His)
|
rs140090605
|
0.00003
|
NM_000891.3(KCNJ2):c.359A>C (p.Lys120Thr)
|
rs375646186
|
0.00003
|
NM_000925.4(PDHB):c.*360A>G
|
rs886058776
|
0.00003
|
NM_000925.4(PDHB):c.641C>T (p.Pro214Leu)
|
rs752056463
|
0.00003
|
NM_001008216.2(GALE):c.652G>A (p.Gly218Arg)
|
rs747453873
|
0.00003
|
NM_001008216.2(GALE):c.923A>G (p.Tyr308Cys)
|
rs780393850
|
0.00003
|
NM_001008216.2(GALE):c.988+7G>A
|
rs200182186
|
0.00003
|
NM_001040616.3(LINS1):c.2032C>T (p.Pro678Ser)
|
rs771451811
|
0.00003
|
NM_001040716.2(PC):c.-272G>A
|
rs927187081
|
0.00003
|
NM_001040716.2(PC):c.1530C>T (p.Asn510=)
|
rs755162836
|
0.00003
|
NM_001040716.2(PC):c.2128G>A (p.Val710Met)
|
rs749176333
|
0.00003
|
NM_001040716.2(PC):c.3064G>A (p.Asp1022Asn)
|
rs747786536
|
0.00003
|
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile)
|
rs201796252
|
0.00003
|
NM_001040716.2(PC):c.3483T>C (p.His1161=)
|
rs190223302
|
0.00003
|
NM_001040716.2(PC):c.841G>A (p.Ala281Thr)
|
rs773369359
|
0.00003
|
NM_001041.4(SI):c.1-15C>A
|
rs201424057
|
0.00003
|
NM_001041.4(SI):c.1715+8C>A
|
rs373673328
|
0.00003
|
NM_001041.4(SI):c.1762C>T (p.Arg588Cys)
|
rs201583834
|
0.00003
|
NM_001041.4(SI):c.2401G>T (p.Glu801Ter)
|
rs200972419
|
0.00003
|
NM_001041.4(SI):c.2566-11A>G
|
rs747570138
|
0.00003
|
NM_001041.4(SI):c.2966G>A (p.Arg989His)
|
rs757155810
|
0.00003
|
NM_001041.4(SI):c.3055C>T (p.Arg1019Cys)
|
rs756776020
|
0.00003
|
NM_001041.4(SI):c.3211C>G (p.Pro1071Ala)
|
rs768100667
|
0.00003
|
NM_001041.4(SI):c.3418C>G (p.Pro1140Ala)
|
rs202077921
|
0.00003
|
NM_001041.4(SI):c.4028T>C (p.Ile1343Thr)
|
rs779805310
|
0.00003
|
NM_001041.4(SI):c.4062+11C>T
|
rs747768310
|
0.00003
|
NM_001041.4(SI):c.417T>G (p.Phe139Leu)
|
rs758407768
|
0.00003
|
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala)
|
rs758043919
|
0.00003
|
NM_001041.4(SI):c.453A>G (p.Gln151=)
|
rs374104171
|
0.00003
|
NM_001041.4(SI):c.5266A>G (p.Ile1756Val)
|
rs535971512
|
0.00003
|
NM_001041.4(SI):c.780T>G (p.Ile260Met)
|
rs758621325
|
0.00003
|
NM_001080510.5(METTL23):c.319G>A (p.Glu107Lys)
|
rs778423082
|
0.00003
|
NM_001160372.4(TRAPPC9):c.1952C>T (p.Pro651Leu)
|
rs143323381
|
0.00003
|
NM_001160372.4(TRAPPC9):c.3013C>A (p.Gln1005Lys)
|
rs913893905
|
0.00003
|
NM_001160372.4(TRAPPC9):c.3137G>A (p.Arg1046Gln)
|
rs545480303
|
0.00003
|
NM_001164277.2(SLC37A4):c.-535G>C
|
rs138523194
|
0.00003
|
NM_001164277.2(SLC37A4):c.141T>G (p.Asp47Glu)
|
rs373540523
|
0.00003
|
NM_001164277.2(SLC37A4):c.515C>T (p.Ser172Phe)
|
rs750732128
|
0.00003
|
NM_001164277.2(SLC37A4):c.544C>T (p.Leu182Phe)
|
rs775311483
|
0.00003
|
NM_001164277.2(SLC37A4):c.590G>A (p.Arg197His)
|
rs377180238
|
0.00003
|
NM_001164277.2(SLC37A4):c.878T>C (p.Leu293Pro)
|
rs886042302
|
0.00003
|
NM_001243177.4(ALDOA):c.1129G>T (p.Ala377Ser)
|
rs148828956
|
0.00003
|
NM_001243177.4(ALDOA):c.219C>T (p.Ile73=)
|
rs773402743
|
0.00003
|
NM_001243177.4(ALDOA):c.226C>T (p.Arg76Cys)
|
rs145582724
|
0.00003
|
NM_001243177.4(ALDOA):c.910G>A (p.Ala304Thr)
|
rs886051893
|
0.00003
|
NM_001352514.2(HLCS):c.*1581T>C
|
rs886057069
|
0.00003
|
NM_001352514.2(HLCS):c.*1761_*1762del
|
rs886057067
|
0.00003
|
NM_001352514.2(HLCS):c.*334A>G
|
rs886057073
|
0.00003
|
NM_001352514.2(HLCS):c.*779A>T
|
rs886057072
|
0.00003
|
NM_001352514.2(HLCS):c.*985C>A
|
rs886057071
|
0.00003
|
NM_001352514.2(HLCS):c.1122A>C (p.Glu374Asp)
|
rs780469041
|
0.00003
|
NM_001352514.2(HLCS):c.1237A>C (p.Thr413Pro)
|
rs747122714
|
0.00003
|
NM_001352514.2(HLCS):c.1328T>G (p.Val443Gly)
|
rs778061862
|
0.00003
|
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser)
|
rs556454789
|
0.00003
|
NM_001352514.2(HLCS):c.1821G>A (p.Leu607=)
|
rs147495853
|
0.00003
|
NM_001352514.2(HLCS):c.206A>G (p.Asp69Gly)
|
rs886057080
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001352514.2(HLCS):c.2584G>A (p.Asp862Asn)
|
rs140014588
|
0.00003
|
NM_001352514.2(HLCS):c.569C>T (p.Pro190Leu)
|
rs534858065
|
0.00003
|
NM_001352514.2(HLCS):c.841G>A (p.Asp281Asn)
|
rs148426470
|
0.00003
|
NM_001360016.2(G6PD):c.*599C>T
|
rs921086000
|
0.00003
|
NM_001360016.2(G6PD):c.864+14C>T
|
rs782416820
|
0.00003
|
NM_001360016.2(G6PD):c.864+5G>A
|
rs372876649
|
0.00003
|
NM_001366110.1(PAX4):c.14-101C>T
|
rs886061970
|
0.00003
|
NM_001366110.1(PAX4):c.14-176C>A
|
rs754931916
|
0.00003
|
NM_001370658.1(BTD):c.1046C>T (p.Pro349Leu)
|
rs397514400
|
0.00003
|
NM_001370658.1(BTD):c.1471C>G (p.Gln491Glu)
|
rs397514427
|
0.00003
|
NM_001370658.1(BTD):c.377C>G (p.Pro126Arg)
|
rs371116229
|
0.00003
|
NM_001370658.1(BTD):c.581A>G (p.Asn194Ser)
|
rs397514377
|
0.00003
|
NM_001370658.1(BTD):c.604G>A (p.Asp202Asn)
|
rs200337373
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_001715.2(BLK):c.-531C>T
|
rs538706235
|
0.00003
|
NM_001715.3(BLK):c.1089G>A (p.Ala363=)
|
rs55836779
|
0.00003
|
NM_001715.3(BLK):c.164A>G (p.His55Arg)
|
rs202053568
|
0.00003
|
NM_001715.3(BLK):c.67T>C (p.Trp23Arg)
|
rs574731221
|
0.00003
|
NM_001739.2(CA5A):c.287G>C (p.Trp96Ser)
|
rs766339583
|
0.00003
|
NM_002076.4(GNS):c.*2032T>A
|
rs886049763
|
0.00003
|
NM_002076.4(GNS):c.*2560T>G
|
rs886049762
|
0.00003
|
NM_002076.4(GNS):c.*2625G>A
|
rs1468841522
|
0.00003
|
NM_002076.4(GNS):c.*2783C>T
|
rs573404754
|
0.00003
|
NM_002076.4(GNS):c.*425G>A
|
rs141736156
|
0.00003
|
NM_002076.4(GNS):c.1153G>A (p.Asp385Asn)
|
rs138335335
|
0.00003
|
NM_002076.4(GNS):c.676T>G (p.Phe226Val)
|
rs1283873163
|
0.00003
|
NM_002103.5(GYS1):c.-171A>T
|
rs766268073
|
0.00003
|
NM_002103.5(GYS1):c.1057C>T (p.Leu353Phe)
|
rs761016746
|
0.00003
|
NM_002103.5(GYS1):c.1077G>A (p.Glu359=)
|
rs756998086
|
0.00003
|
NM_002103.5(GYS1):c.1102A>G (p.Met368Val)
|
rs1239694022
|
0.00003
|
NM_002103.5(GYS1):c.152C>T (p.Ala51Val)
|
rs780821674
|
0.00003
|
NM_002103.5(GYS1):c.178G>A (p.Asp60Asn)
|
rs781563966
|
0.00003
|
NM_002103.5(GYS1):c.2092T>C (p.Ser698Pro)
|
rs147627546
|
0.00003
|
NM_002103.5(GYS1):c.2105C>T (p.Ser702Phe)
|
rs1375243403
|
0.00003
|
NM_002103.5(GYS1):c.2122C>G (p.Arg708Gly)
|
rs776737199
|
0.00003
|
NM_002103.5(GYS1):c.222G>A (p.Arg74=)
|
rs748174034
|
0.00003
|
NM_002103.5(GYS1):c.425C>T (p.Pro142Leu)
|
rs1045006240
|
0.00003
|
NM_002103.5(GYS1):c.500C>A (p.Ala167Glu)
|
rs1199465827
|
0.00003
|
NM_002103.5(GYS1):c.678C>T (p.Asn226=)
|
rs760384808
|
0.00003
|
NM_002103.5(GYS1):c.741G>A (p.Ala247=)
|
rs3745692
|
0.00003
|
NM_002294.3(LAMP2):c.*2147T>C
|
rs1314194515
|
0.00003
|
NM_002294.3(LAMP2):c.*4858A>G
|
rs943561186
|
0.00003
|
NM_002294.3(LAMP2):c.1126C>A (p.Leu376Ile)
|
rs1006753991
|
0.00003
|
NM_002294.3(LAMP2):c.204C>G (p.Asp68Glu)
|
rs376215728
|
0.00003
|
NM_002294.3(LAMP2):c.320C>G (p.Ser107Cys)
|
rs730880497
|
0.00003
|
NM_002294.3(LAMP2):c.398-3T>C
|
rs1045629648
|
0.00003
|
NM_002294.3(LAMP2):c.601A>G (p.Ile201Val)
|
rs1362738445
|
0.00003
|
NM_002294.3(LAMP2):c.640C>A (p.Pro214Thr)
|
rs776101722
|
0.00003
|
NM_002294.3(LAMP2):c.999A>C (p.Lys333Asn)
|
rs1341268966
|
0.00003
|
NM_002299.4(LCT):c.1780C>G (p.Gln594Glu)
|
rs886054867
|
0.00003
|
NM_002299.4(LCT):c.3450C>T (p.Ser1150=)
|
rs777067647
|
0.00003
|
NM_002299.4(LCT):c.5335+5G>A
|
rs747065034
|
0.00003
|
NM_002299.4(LCT):c.5391T>C (p.Asn1797=)
|
rs145827881
|
0.00003
|
NM_002299.4(LCT):c.5493C>T (p.Tyr1831=)
|
rs369410973
|
0.00003
|
NM_002299.4(LCT):c.725C>T (p.Thr242Met)
|
rs757179373
|
0.00003
|
NM_002299.4(LCT):c.89C>T (p.Ser30Phe)
|
rs368308800
|
0.00003
|
NM_002300.8(LDHB):c.719A>G (p.Tyr240Cys)
|
rs369382991
|
0.00003
|
NM_002500.5(NEUROD1):c.964G>A (p.Ala322Thr)
|
rs754458532
|
0.00003
|
NM_002591.4(PCK1):c.*392T>C
|
rs111775670
|
0.00003
|
NM_002591.4(PCK1):c.-64C>T
|
rs886056793
|
0.00003
|
NM_002591.4(PCK1):c.1553G>A (p.Arg518Gln)
|
rs768176085
|
0.00003
|
NM_002591.4(PCK1):c.903C>T (p.Pro301=)
|
rs779245706
|
0.00003
|
NM_002637.4(PHKA1):c.*2110A>G
|
rs1380630404
|
0.00003
|
NM_002637.4(PHKA1):c.1297G>A (p.Val433Ile)
|
rs369136290
|
0.00003
|
NM_002637.4(PHKA1):c.2006C>T (p.Ala669Val)
|
rs1556276769
|
0.00003
|
NM_002637.4(PHKA1):c.2480G>A (p.Arg827Gln)
|
rs370717042
|
0.00003
|
NM_002637.4(PHKA1):c.2725C>G (p.Pro909Ala)
|
rs1179242925
|
0.00003
|
NM_002637.4(PHKA1):c.3371G>A (p.Arg1124His)
|
rs782546754
|
0.00003
|
NM_002637.4(PHKA1):c.3436G>A (p.Gly1146Arg)
|
rs782068991
|
0.00003
|
NM_002637.4(PHKA1):c.3631G>A (p.Val1211Met)
|
rs1025423127
|
0.00003
|
NM_002863.5(PYGL):c.1598G>A (p.Arg533Gln)
|
rs778002035
|
0.00003
|
NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys)
|
rs113993984
|
0.00003
|
NM_002863.5(PYGL):c.2083G>A (p.Gly695Arg)
|
rs368758632
|
0.00003
|
NM_002863.5(PYGL):c.369A>G (p.Leu123=)
|
rs778625321
|
0.00003
|
NM_002863.5(PYGL):c.772+14A>G
|
rs370866175
|
0.00003
|
NM_002863.5(PYGL):c.833G>A (p.Arg278Gln)
|
rs375172368
|
0.00003
|
NM_003041.4(SLC5A2):c.1603T>G (p.Phe535Val)
|
rs199521654
|
0.00003
|
NM_003041.4(SLC5A2):c.26C>T (p.Ser9Leu)
|
rs564249983
|
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_003384.3(VRK1):c.1069-9A>G
|
rs767585930
|
0.00003
|
NM_003384.3(VRK1):c.1117A>G (p.Thr373Ala)
|
rs199759408
|
0.00003
|
NM_003384.3(VRK1):c.1118C>T (p.Thr373Met)
|
rs369917766
|
0.00003
|
NM_003384.3(VRK1):c.1180G>A (p.Val394Ile)
|
rs1392561922
|
0.00003
|
NM_003384.3(VRK1):c.307C>T (p.Arg103Cys)
|
rs755450815
|
0.00003
|
NM_003477.3(PDHX):c.1052A>G (p.Asp351Gly)
|
rs200866298
|
0.00003
|
NM_003597.5(KLF11):c.-159G>A
|
rs1445533585
|
0.00003
|
NM_003597.5(KLF11):c.1396A>T (p.Ser466Cys)
|
rs757875185
|
0.00003
|
NM_003597.5(KLF11):c.23G>A (p.Gly8Asp)
|
rs1553312826
|
0.00003
|
NM_003597.5(KLF11):c.305C>G (p.Ser102Trp)
|
rs576350323
|
0.00003
|
NM_003597.5(KLF11):c.358A>G (p.Arg120Gly)
|
rs201792575
|
0.00003
|
NM_003597.5(KLF11):c.431T>C (p.Val144Ala)
|
rs753049849
|
0.00003
|
NM_003619.4(PRSS12):c.1837+1G>A
|
rs201470712
|
0.00003
|
NM_003619.4(PRSS12):c.1879C>T (p.Arg627Trp)
|
rs754920304
|
0.00003
|
NM_003619.4(PRSS12):c.2088T>C (p.His696=)
|
rs141365421
|
0.00003
|
NM_003619.4(PRSS12):c.2128dup (p.Gln710fs)
|
rs757141803
|
0.00003
|
NM_003619.4(PRSS12):c.781C>T (p.Gln261Ter)
|
rs1205071832
|
0.00003
|
NM_004130.4(GYG1):c.716A>C (p.Asn239Thr)
|
rs759134229
|
0.00003
|
NM_004830.4(MED23):c.3963A>T (p.Leu1321Phe)
|
rs755207439
|
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.889G>A (p.Val297Ile)
|
rs376876153
|
0.00003
|
NM_005566.4(LDHA):c.137A>T (p.Asp46Val)
|
rs201460924
|
0.00003
|
NM_005609.4(PYGM):c.1343C>T (p.Ala448Val)
|
rs370291854
|
0.00003
|
NM_005609.4(PYGM):c.1492C>T (p.Pro498Ser)
|
rs200101718
|
0.00003
|
NM_005609.4(PYGM):c.1580A>G (p.Asp527Gly)
|
rs775496411
|
0.00003
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
NM_005609.4(PYGM):c.2412G>A (p.Arg804=)
|
rs199927544
|
0.00003
|
NM_005609.4(PYGM):c.527A>C (p.Gln176Pro)
|
rs747495987
|
0.00003
|
NM_005609.4(PYGM):c.64G>A (p.Val22Met)
|
rs140731551
|
0.00003
|
NM_005609.4(PYGM):c.780C>T (p.Val260=)
|
rs754415422
|
0.00003
|
NM_005908.4(MANBA):c.163C>G (p.Gln55Glu)
|
rs758643729
|
0.00003
|
NM_005908.4(MANBA):c.2540C>A (p.Thr847Asn)
|
rs376012848
|
0.00003
|
NM_005908.4(MANBA):c.61C>T (p.Leu21Phe)
|
rs139936532
|
0.00003
|
NM_006488.3(KHK):c.*200A>G
|
rs751205514
|
0.00003
|
NM_006516.2(SLC2A1):c.-384G>A
|
rs886046345
|
0.00003
|
NM_006516.4(SLC2A1):c.*1149C>A
|
rs779668330
|
0.00003
|
NM_006516.4(SLC2A1):c.*1246G>A
|
rs886046330
|
0.00003
|
NM_006516.4(SLC2A1):c.*1281A>G
|
rs1057515458
|
0.00003
|
NM_006516.4(SLC2A1):c.*322T>G
|
rs886046340
|
0.00003
|
NM_006516.4(SLC2A1):c.*597G>A
|
rs886046338
|
0.00003
|
NM_006516.4(SLC2A1):c.313G>A (p.Val105Met)
|
rs577667739
|
0.00003
|
NM_006721.4(ADK):c.259A>G (p.Ile87Val)
|
rs201734294
|
0.00003
|
NM_006755.2(TALDO1):c.*33C>T
|
rs375388046
|
0.00003
|
NM_006755.2(TALDO1):c.462-4G>A
|
rs532763032
|
0.00003
|
NM_006755.2(TALDO1):c.575G>A (p.Arg192His)
|
rs151052416
|
0.00003
|
NM_006755.2(TALDO1):c.662A>G (p.Tyr221Cys)
|
rs765872752
|
0.00003
|
NM_006755.2(TALDO1):c.706G>A (p.Ala236Thr)
|
rs375231328
|
0.00003
|
NM_006859.4(LIAS):c.110A>T (p.Glu37Val)
|
rs763606110
|
0.00003
|
NM_006859.4(LIAS):c.122A>G (p.Asn41Ser)
|
rs761295906
|
0.00003
|
NM_006859.4(LIAS):c.376G>A (p.Ala126Thr)
|
rs74528014
|
0.00003
|
NM_006859.4(LIAS):c.473G>C (p.Ser158Thr)
|
rs751421705
|
0.00003
|
NM_006859.4(LIAS):c.877A>G (p.Met293Val)
|
rs943564525
|
0.00003
|
NM_012203.2(GRHPR):c.215-13_215-7del
|
rs780759944
|
0.00003
|
NM_012203.2(GRHPR):c.554G>A (p.Arg185His)
|
rs1327662246
|
0.00003
|
NM_012203.2(GRHPR):c.812C>T (p.Thr271Met)
|
rs750954346
|
0.00003
|
NM_012434.5(SLC17A5):c.-86A>T
|
rs886061737
|
0.00003
|
NM_012434.5(SLC17A5):c.1192A>G (p.Ile398Val)
|
rs374771372
|
0.00003
|
NM_012434.5(SLC17A5):c.56G>A (p.Arg19His)
|
rs772365253
|
0.00003
|
NM_012434.5(SLC17A5):c.804A>G (p.Ser268=)
|
rs750559102
|
0.00003
|
NM_014026.6(DCPS):c.704C>T (p.Pro235Leu)
|
rs151074136
|
0.00003
|
NM_016042.4(EXOSC3):c.37G>C (p.Ala13Pro)
|
rs758230758
|
0.00003
|
NM_016042.4(EXOSC3):c.475-12A>G
|
rs370087266
|
0.00003
|
NM_016042.4(EXOSC3):c.782C>T (p.Thr261Met)
|
rs565320740
|
0.00003
|
NM_016203.4(PRKAG2):c.-397G>C
|
rs886062106
|
0.00003
|
NM_016203.4(PRKAG2):c.361A>G (p.Met121Val)
|
rs760511236
|
0.00003
|
NM_016203.4(PRKAG2):c.66C>T (p.Gly22=)
|
rs730880971
|
0.00003
|
NM_016203.4(PRKAG2):c.945A>G (p.Val315=)
|
rs759393540
|
0.00003
|
NM_016219.5(MAN1B1):c.*62A>G
|
rs963031485
|
0.00003
|
NM_016219.5(MAN1B1):c.1556G>T (p.Ser519Ile)
|
rs763074368
|
0.00003
|
NM_016219.5(MAN1B1):c.1895G>A (p.Arg632Gln)
|
rs368503703
|
0.00003
|
NM_016219.5(MAN1B1):c.302A>G (p.Tyr101Cys)
|
rs748988185
|
0.00003
|
NM_016219.5(MAN1B1):c.488G>A (p.Arg163Gln)
|
rs765008747
|
0.00003
|
NM_016219.5(MAN1B1):c.792C>T (p.Tyr264=)
|
rs777042053
|
0.00003
|
NM_016219.5(MAN1B1):c.936G>T (p.Lys312Asn)
|
rs376305905
|
0.00003
|
NM_016302.4(CRBN):c.724C>T (p.Arg242Cys)
|
rs541404259
|
0.00003
|
NM_017721.5(CC2D1A):c.2776G>C (p.Asp926His)
|
rs576457697
|
0.00003
|
NM_017755.6(NSUN2):c.1039G>A (p.Asp347Asn)
|
rs779298195
|
0.00003
|
NM_017755.6(NSUN2):c.1213C>T (p.His405Tyr)
|
rs766301739
|
0.00003
|
NM_017755.6(NSUN2):c.763G>A (p.Gly255Ser)
|
rs140003855
|
0.00003
|
NM_017755.6(NSUN2):c.914G>A (p.Arg305His)
|
rs368030963
|
0.00003
|
NM_020897.3(HCN3):c.*1004C>T
|
rs937795186
|
0.00003
|
NM_021957.4(GYS2):c.*406T>G
|
rs886445298
|
0.00003
|
NM_021957.4(GYS2):c.1129G>A (p.Val377Met)
|
rs199855783
|
0.00003
|
NM_021957.4(GYS2):c.1549G>C (p.Ala517Pro)
|
rs199936257
|
0.00003
|
NM_021957.4(GYS2):c.1745G>A (p.Arg582Lys)
|
rs369069984
|
0.00003
|
NM_021957.4(GYS2):c.1774C>G (p.Leu592Val)
|
rs202136674
|
0.00003
|
NM_021957.4(GYS2):c.525C>T (p.Val175=)
|
rs77486019
|
0.00003
|
NM_021957.4(GYS2):c.627T>A (p.Leu209=)
|
rs767838400
|
0.00003
|
NM_021957.4(GYS2):c.799G>A (p.Glu267Lys)
|
rs768020573
|
0.00003
|
NM_024735.5(FBXO31):c.996+4A>G
|
rs765703905
|
0.00003
|
NM_024824.5(ZC3H14):c.1280-1856A>G
|
rs538186371
|
0.00003
|
NM_024989.4(PGAP1):c.1089C>T (p.Asn363=)
|
rs766852236
|
0.00003
|
NM_024989.4(PGAP1):c.153A>G (p.Ile51Met)
|
rs777153886
|
0.00003
|
NM_024989.4(PGAP1):c.1558A>G (p.Ile520Val)
|
rs201002323
|
0.00003
|
NM_024989.4(PGAP1):c.1843T>A (p.Tyr615Asn)
|
rs771805552
|
0.00003
|
NM_024989.4(PGAP1):c.659C>T (p.Thr220Met)
|
rs774987863
|
0.00003
|
NM_031229.4(RBCK1):c.1028C>T (p.Ala343Val)
|
rs1232409954
|
0.00003
|
NM_031229.4(RBCK1):c.1285C>T (p.Arg429Trp)
|
rs764244683
|
0.00003
|
NM_031229.4(RBCK1):c.1297G>C (p.Glu433Gln)
|
rs754890674
|
0.00003
|
NM_031229.4(RBCK1):c.1346A>G (p.Gln449Arg)
|
rs371077650
|
0.00003
|
NM_031229.4(RBCK1):c.256G>C (p.Asp86His)
|
rs759833242
|
0.00003
|
NM_031229.4(RBCK1):c.326G>A (p.Arg109Gln)
|
rs568820415
|
0.00003
|
NM_031229.4(RBCK1):c.338C>T (p.Thr113Ile)
|
rs372591105
|
0.00003
|
NM_031229.4(RBCK1):c.473A>G (p.Lys158Arg)
|
rs772796019
|
0.00003
|
NM_031229.4(RBCK1):c.482C>T (p.Thr161Met)
|
rs766841580
|
0.00003
|
NM_031229.4(RBCK1):c.64G>A (p.Gly22Arg)
|
rs546711324
|
0.00003
|
NM_031229.4(RBCK1):c.699C>G (p.Asp233Glu)
|
rs746724862
|
0.00003
|
NM_033159.4(HYAL1):c.108G>C (p.Trp36Cys)
|
rs782450263
|
0.00003
|
NM_053013.4(ENO3):c.1047G>A (p.Ser349=)
|
rs527864393
|
0.00003
|
NM_053013.4(ENO3):c.774T>G (p.Asp258Glu)
|
rs763327091
|
0.00003
|
NM_053013.4(ENO3):c.927G>A (p.Ser309=)
|
rs142501820
|
0.00003
|
NM_138413.4(HOGA1):c.407T>C (p.Val136Ala)
|
rs776292240
|
0.00003
|
NM_138413.4(HOGA1):c.909C>T (p.Arg303=)
|
rs764469579
|
0.00003
|
NM_138413.4(HOGA1):c.943_954dup (p.Glu315_Arg318dup)
|
rs777828182
|
0.00003
|
NM_138413.4(HOGA1):c.953G>A (p.Arg318His)
|
rs201347931
|
0.00003
|
NM_144563.3(RPIA):c.*591G>T
|
rs925199328
|
0.00003
|
NM_144563.3(RPIA):c.*712T>C
|
rs886056425
|
0.00003
|
NM_144563.3(RPIA):c.596+5A>C
|
rs200342264
|
0.00003
|
NM_145262.4(GLYCTK):c.1036C>G (p.Gln346Glu)
|
rs773672318
|
0.00003
|
NM_152419.3(HGSNAT):c.*1137C>T
|
rs142422330
|
0.00003
|
NM_152419.3(HGSNAT):c.1093C>T (p.Leu365Phe)
|
rs995331214
|
0.00003
|
NM_152419.3(HGSNAT):c.1127C>T (p.Ser376Leu)
|
rs762498109
|
0.00003
|
NM_152419.3(HGSNAT):c.1441G>T (p.Val481Leu)
|
rs746875137
|
0.00003
|
NM_152419.3(HGSNAT):c.317A>G (p.Gln106Arg)
|
rs368082613
|
0.00003
|
NM_152419.3(HGSNAT):c.328A>G (p.Ile110Val)
|
rs138736400
|
0.00003
|
NM_152419.3(HGSNAT):c.907C>T (p.Arg303Trp)
|
rs375524490
|
0.00003
|
NM_175914.5(HNF4A):c.*1616G>A
|
rs886056685
|
0.00003
|
NM_175914.5(HNF4A):c.*168G>T
|
rs1045382698
|
0.00003
|
NM_175914.5(HNF4A):c.*2779A>C
|
rs755438203
|
0.00003
|
NM_175914.5(HNF4A):c.*572C>A
|
rs761017274
|
0.00003
|
NM_175914.5(HNF4A):c.1144G>A (p.Val382Ile)
|
rs377151067
|
0.00003
|
NM_175914.5(HNF4A):c.1216+6C>A
|
rs778818487
|
0.00003
|
NM_175914.5(HNF4A):c.1300A>G (p.Ile434Val)
|
rs774111430
|
0.00003
|
NM_175914.5(HNF4A):c.53C>T (p.Thr18Met)
|
rs199796094
|
0.00003
|
NM_175914.5(HNF4A):c.791A>G (p.Tyr264Cys)
|
rs748714111
|
0.00003
|
NM_198586.3(NHLRC1):c.1072A>G (p.Met358Val)
|
rs765443391
|
0.00003
|
NM_198586.3(NHLRC1):c.1087C>G (p.Leu363Val)
|
rs1275828844
|
0.00003
|
NM_198586.3(NHLRC1):c.122C>A (p.Pro41Gln)
|
rs759908693
|
0.00003
|
NM_198586.3(NHLRC1):c.337G>A (p.Ala113Thr)
|
rs570505924
|
0.00003
|
NM_000027.4(AGA):c.598G>A (p.Asp200Asn)
|
rs761243441
|
0.00002
|
NM_000027.4(AGA):c.987G>C (p.Met329Ile)
|
rs774051527
|
0.00002
|
NM_000030.3(AGXT):c.942+14T>G
|
rs886055843
|
0.00002
|
NM_000035.4(ALDOB):c.255C>T (p.Tyr85=)
|
rs761063847
|
0.00002
|
NM_000035.4(ALDOB):c.557T>C (p.Ile186Thr)
|
rs770158282
|
0.00002
|
NM_000035.4(ALDOB):c.910C>T (p.Arg304Trp)
|
rs555935217
|
0.00002
|
NM_000035.4(ALDOB):c.954T>C (p.Ala318=)
|
rs572044496
|
0.00002
|
NM_000046.5(ARSB):c.*2164T>A
|
rs950647700
|
0.00002
|
NM_000046.5(ARSB):c.*2526T>A
|
rs1174387311
|
0.00002
|
NM_000046.5(ARSB):c.*3163T>C
|
rs886060778
|
0.00002
|
NM_000046.5(ARSB):c.*618C>T
|
rs757857543
|
0.00002
|
NM_000046.5(ARSB):c.*990C>T
|
rs886060793
|
0.00002
|
NM_000046.5(ARSB):c.1198G>T (p.Val400Leu)
|
rs570630772
|
0.00002
|
NM_000046.5(ARSB):c.1214G>A (p.Cys405Tyr)
|
rs118203941
|
0.00002
|
NM_000046.5(ARSB):c.1231G>A (p.Ala411Thr)
|
rs886060797
|
0.00002
|
NM_000046.5(ARSB):c.1387C>A (p.Pro463Thr)
|
rs748137130
|
0.00002
|
NM_000046.5(ARSB):c.176A>G (p.Asp59Gly)
|
rs1179935748
|
0.00002
|
NM_000046.5(ARSB):c.246G>A (p.Leu82=)
|
rs1035210606
|
0.00002
|
NM_000046.5(ARSB):c.305G>A (p.Arg102His)
|
rs759356342
|
0.00002
|
NM_000108.5(DLD):c.*355A>G
|
rs886061910
|
0.00002
|
NM_000108.5(DLD):c.1439T>C (p.Ile480Thr)
|
rs140260331
|
0.00002
|
NM_000108.5(DLD):c.1440A>G (p.Ile480Met)
|
rs772512477
|
0.00002
|
NM_000108.5(DLD):c.1503G>A (p.Ala501=)
|
rs766286119
|
0.00002
|
NM_000108.5(DLD):c.226C>T (p.Leu76Phe)
|
rs967089304
|
0.00002
|
NM_000108.5(DLD):c.597A>T (p.Thr199=)
|
rs768248572
|
0.00002
|
NM_000108.5(DLD):c.677T>C (p.Val226Ala)
|
rs750449027
|
0.00002
|
NM_000108.5(DLD):c.901G>A (p.Ala301Thr)
|
rs1466290130
|
0.00002
|
NM_000147.5(FUCA1):c.1260+7A>C
|
rs771229488
|
0.00002
|
NM_000151.4(G6PC1):c.*1311G>A
|
rs1395262885
|
0.00002
|
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg)
|
rs1250172816
|
0.00002
|
NM_000151.4(G6PC1):c.431C>T (p.Pro144Leu)
|
rs1470923557
|
0.00002
|
NM_000151.4(G6PC1):c.553G>A (p.Val185Ile)
|
rs766230068
|
0.00002
|
NM_000151.4(G6PC1):c.922G>A (p.Val308Ile)
|
rs774448424
|
0.00002
|
NM_000152.5(GAA):c.1053G>T (p.Val351=)
|
rs773063199
|
0.00002
|
NM_000152.5(GAA):c.1147A>G (p.Ile383Val)
|
rs794727837
|
0.00002
|
NM_000152.5(GAA):c.1165G>A (p.Glu389Lys)
|
rs749186162
|
0.00002
|
NM_000152.5(GAA):c.1275G>A (p.Pro425=)
|
rs762826072
|
0.00002
|
NM_000152.5(GAA):c.1307G>A (p.Arg436Gln)
|
rs748788550
|
0.00002
|
NM_000152.5(GAA):c.1378G>A (p.Glu460Lys)
|
rs771213237
|
0.00002
|
NM_000152.5(GAA):c.1387C>T (p.Arg463Trp)
|
rs199748889
|
0.00002
|
NM_000152.5(GAA):c.1388G>A (p.Arg463Gln)
|
rs886053545
|
0.00002
|
NM_000152.5(GAA):c.1437+6G>A
|
rs754249803
|
0.00002
|
NM_000152.5(GAA):c.1544T>C (p.Met515Thr)
|
rs1338245575
|
0.00002
|
NM_000152.5(GAA):c.1560C>T (p.Asn520=)
|
rs116322271
|
0.00002
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser)
|
rs1278340100
|
0.00002
|
NM_000152.5(GAA):c.1881C>T (p.Ser627=)
|
rs779328815
|
0.00002
|
NM_000152.5(GAA):c.1936G>A (p.Val646Ile)
|
rs770029932
|
0.00002
|
NM_000152.5(GAA):c.2164A>T (p.Thr722Ser)
|
rs774307734
|
0.00002
|
NM_000152.5(GAA):c.216C>T (p.Pro72=)
|
rs753287841
|
0.00002
|
NM_000152.5(GAA):c.2404G>A (p.Gly802Arg)
|
rs148412962
|
0.00002
|
NM_000152.5(GAA):c.2444A>G (p.Asn815Ser)
|
rs1365945556
|
0.00002
|
NM_000152.5(GAA):c.2458G>T (p.Ala820Ser)
|
rs745378120
|
0.00002
|
NM_000152.5(GAA):c.2597A>T (p.Glu866Val)
|
rs951742543
|
0.00002
|
NM_000152.5(GAA):c.280C>A (p.Pro94Thr)
|
rs749496973
|
0.00002
|
NM_000152.5(GAA):c.309C>T (p.Cys103=)
|
rs373307393
|
0.00002
|
NM_000152.5(GAA):c.317G>A (p.Arg106His)
|
rs772534106
|
0.00002
|
NM_000152.5(GAA):c.370C>G (p.Gln124Glu)
|
rs1291571294
|
0.00002
|
NM_000152.5(GAA):c.412C>G (p.Leu138Val)
|
rs761221259
|
0.00002
|
NM_000152.5(GAA):c.446C>T (p.Thr149Met)
|
rs750628023
|
0.00002
|
NM_000152.5(GAA):c.460C>T (p.Arg154Cys)
|
rs539841659
|
0.00002
|
NM_000152.5(GAA):c.614C>T (p.Pro205Leu)
|
rs775065551
|
0.00002
|
NM_000152.5(GAA):c.67A>G (p.Thr23Ala)
|
rs2289537
|
0.00002
|
NM_000152.5(GAA):c.685C>T (p.Arg229Cys)
|
rs375295347
|
0.00002
|
NM_000152.5(GAA):c.687C>T (p.Arg229=)
|
rs149814041
|
0.00002
|
NM_000152.5(GAA):c.705G>A (p.Thr235=)
|
rs2304846
|
0.00002
|
NM_000152.5(GAA):c.840C>G (p.Asn280Lys)
|
rs747820772
|
0.00002
|
NM_000152.5(GAA):c.858G>A (p.Thr286=)
|
rs201056962
|
0.00002
|
NM_000152.5(GAA):c.859C>T (p.Pro287Ser)
|
rs369735511
|
0.00002
|
NM_000152.5(GAA):c.866C>T (p.Ala289Val)
|
rs145903608
|
0.00002
|
NM_000152.5(GAA):c.868A>G (p.Asn290Asp)
|
rs552929702
|
0.00002
|
NM_000152.5(GAA):c.899C>T (p.Ala300Val)
|
rs1032949450
|
0.00002
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
NM_000152.5(GAA):c.979G>A (p.Ala327Thr)
|
rs756562462
|
0.00002
|
NM_000154.2(GALK1):c.1025G>A (p.Arg342His)
|
rs867405975
|
0.00002
|
NM_000154.2(GALK1):c.116A>G (p.Asn39Ser)
|
rs536209426
|
0.00002
|
NM_000154.2(GALK1):c.289C>T (p.Arg97Cys)
|
rs371641311
|
0.00002
|
NM_000154.2(GALK1):c.703G>A (p.Glu235Lys)
|
rs764167059
|
0.00002
|
NM_000154.2(GALK1):c.836G>A (p.Arg279Gln)
|
rs779054525
|
0.00002
|
NM_000154.2(GALK1):c.863C>T (p.Thr288Met)
|
rs759284637
|
0.00002
|
NM_000154.2(GALK1):c.928A>G (p.Ser310Gly)
|
rs201681295
|
0.00002
|
NM_000155.4(GALT):c.1116C>T (p.Asp372=)
|
rs757314660
|
0.00002
|
NM_000155.4(GALT):c.233C>T (p.Ala78Val)
|
rs981018740
|
0.00002
|
NM_000155.4(GALT):c.268G>C (p.Asp90His)
|
rs201330799
|
0.00002
|
NM_000155.4(GALT):c.507+10G>A
|
rs753052473
|
0.00002
|
NM_000155.4(GALT):c.68C>A (p.Thr23Asn)
|
rs1365354002
|
0.00002
|
NM_000155.4(GALT):c.803C>A (p.Thr268Asn)
|
rs111033847
|
0.00002
|
NM_000158.4(GBE1):c.1204A>G (p.Thr402Ala)
|
rs757297254
|
0.00002
|
NM_000158.4(GBE1):c.1222A>G (p.Ile408Val)
|
rs760095778
|
0.00002
|
NM_000158.4(GBE1):c.1726C>T (p.Arg576Cys)
|
rs183019204
|
0.00002
|
NM_000158.4(GBE1):c.1781A>G (p.Tyr594Cys)
|
rs370246900
|
0.00002
|
NM_000158.4(GBE1):c.1888A>G (p.Ser630Gly)
|
rs758683393
|
0.00002
|
NM_000158.4(GBE1):c.292G>C (p.Val98Leu)
|
rs762945205
|
0.00002
|
NM_000158.4(GBE1):c.535G>A (p.Asp179Asn)
|
rs758425725
|
0.00002
|
NM_000158.4(GBE1):c.556-6C>T
|
rs754051144
|
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_000181.4(GUSB):c.1193G>A (p.Arg398His)
|
rs776843811
|
0.00002
|
NM_000181.4(GUSB):c.1270C>A (p.His424Asn)
|
rs866996794
|
0.00002
|
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)
|
rs774393243
|
0.00002
|
NM_000181.4(GUSB):c.1790-2dup
|
rs764071830
|
0.00002
|
NM_000181.4(GUSB):c.1942A>C (p.Ser648Arg)
|
rs776024156
|
0.00002
|
NM_000181.4(GUSB):c.347G>A (p.Arg116His)
|
rs538431094
|
0.00002
|
NM_000181.4(GUSB):c.553A>C (p.Thr185Pro)
|
rs755465262
|
0.00002
|
NM_000181.4(GUSB):c.697G>A (p.Val233Ile)
|
rs202210104
|
0.00002
|
NM_000188.3(HK1):c.949G>A (p.Gly317Ser)
|
rs202028638
|
0.00002
|
NM_000199.5(SGSH):c.1040C>T (p.Ser347Phe)
|
rs780239925
|
0.00002
|
NM_000199.5(SGSH):c.1259C>T (p.Pro420Leu)
|
rs150222010
|
0.00002
|
NM_000199.5(SGSH):c.1325G>A (p.Ser442Asn)
|
rs1047935424
|
0.00002
|
NM_000199.5(SGSH):c.136G>A (p.Ala46Thr)
|
rs772636496
|
0.00002
|
NM_000199.5(SGSH):c.1371T>C (p.Phe457=)
|
rs867660906
|
0.00002
|
NM_000199.5(SGSH):c.153C>T (p.Asp51=)
|
rs372226239
|
0.00002
|
NM_000199.5(SGSH):c.478C>T (p.Arg160Trp)
|
rs189571889
|
0.00002
|
NM_000199.5(SGSH):c.527C>A (p.Ala176Asp)
|
rs760996554
|
0.00002
|
NM_000199.5(SGSH):c.537C>T (p.Asp179=)
|
rs771440037
|
0.00002
|
NM_000199.5(SGSH):c.574A>G (p.Thr192Ala)
|
rs764278674
|
0.00002
|
NM_000199.5(SGSH):c.65C>T (p.Pro22Leu)
|
rs1212600929
|
0.00002
|
NM_000199.5(SGSH):c.683A>G (p.Asn228Ser)
|
rs771177142
|
0.00002
|
NM_000199.5(SGSH):c.689C>T (p.Pro230Leu)
|
rs748671633
|
0.00002
|
NM_000199.5(SGSH):c.698G>A (p.Arg233Gln)
|
rs370291256
|
0.00002
|
NM_000199.5(SGSH):c.727G>A (p.Val243Ile)
|
rs770944322
|
0.00002
|
NM_000202.8(IDS):c.1261C>T (p.Arg421Cys)
|
rs781825818
|
0.00002
|
NM_000202.8(IDS):c.1478G>A (p.Arg493His)
|
rs782347729
|
0.00002
|
NM_000203.5(IDUA):c.1093C>G (p.Leu365Val)
|
rs527336882
|
0.00002
|
NM_000203.5(IDUA):c.112C>T (p.Arg38Cys)
|
rs950667822
|
0.00002
|
NM_000203.5(IDUA):c.1195G>A (p.Glu399Lys)
|
rs1034769935
|
0.00002
|
NM_000203.5(IDUA):c.1247A>C (p.His416Pro)
|
rs1419725967
|
0.00002
|
NM_000203.5(IDUA):c.1349C>A (p.Pro450His)
|
rs895626490
|
0.00002
|
NM_000203.5(IDUA):c.1529C>T (p.Pro510Leu)
|
rs794727017
|
0.00002
|
NM_000203.5(IDUA):c.1828+5G>A
|
rs565649151
|
0.00002
|
NM_000203.5(IDUA):c.237C>T (p.Ala79=)
|
rs769676234
|
0.00002
|
NM_000203.5(IDUA):c.793-5C>T
|
rs773072991
|
0.00002
|
NM_000203.5(IDUA):c.946G>A (p.Val316Met)
|
rs755445369
|
0.00002
|
NM_000208.4(INSR):c.2121C>T (p.Gly707=)
|
rs753257847
|
0.00002
|
NM_000209.4(PDX1):c.8G>C (p.Gly3Ala)
|
rs1380564366
|
0.00002
|
NM_000262.3(NAGA):c.1111G>A (p.Val371Ile)
|
rs755283571
|
0.00002
|
NM_000262.3(NAGA):c.358G>A (p.Ala120Thr)
|
rs749506008
|
0.00002
|
NM_000263.4(NAGLU):c.1000G>A (p.Val334Ile)
|
rs749140168
|
0.00002
|
NM_000263.4(NAGLU):c.1401A>G (p.Pro467=)
|
rs143938936
|
0.00002
|
NM_000263.4(NAGLU):c.1559G>A (p.Arg520Gln)
|
rs1207098238
|
0.00002
|
NM_000263.4(NAGLU):c.1562C>T (p.Pro521Leu)
|
rs104894595
|
0.00002
|
NM_000263.4(NAGLU):c.1703T>G (p.Val568Gly)
|
rs777283283
|
0.00002
|
NM_000263.4(NAGLU):c.647C>G (p.Pro216Arg)
|
rs750276054
|
0.00002
|
NM_000263.4(NAGLU):c.682C>T (p.Arg228Trp)
|
rs368907396
|
0.00002
|
NM_000284.4(PDHA1):c.854A>G (p.Gln285Arg)
|
rs373275701
|
0.00002
|
NM_000289.6(PFKM):c.1115A>G (p.Lys372Arg)
|
rs375592512
|
0.00002
|
NM_000289.6(PFKM):c.1191+6G>T
|
rs779486374
|
0.00002
|
NM_000289.6(PFKM):c.140G>A (p.Arg47His)
|
rs748718049
|
0.00002
|
NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala)
|
rs121918194
|
0.00002
|
NM_000289.6(PFKM):c.1663C>T (p.Arg555Cys)
|
rs763839998
|
0.00002
|
NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg)
|
rs199528011
|
0.00002
|
NM_000289.6(PFKM):c.262C>T (p.Arg88Trp)
|
rs757746489
|
0.00002
|
NM_000289.6(PFKM):c.514A>G (p.Thr172Ala)
|
rs139800248
|
0.00002
|
NM_000289.6(PFKM):c.817C>A (p.Pro273Thr)
|
rs576835893
|
0.00002
|
NM_000290.4(PGAM2):c.252T>C (p.Thr84=)
|
rs755125202
|
0.00002
|
NM_000290.4(PGAM2):c.365C>T (p.Pro122Leu)
|
rs147273213
|
0.00002
|
NM_000290.4(PGAM2):c.37G>A (p.Glu13Lys)
|
rs1026868358
|
0.00002
|
NM_000291.4(PGK1):c.929G>A (p.Gly310Asp)
|
rs201238498
|
0.00002
|
NM_000292.3(PHKA2):c.1724G>A (p.Gly575Asp)
|
rs757718008
|
0.00002
|
NM_000292.3(PHKA2):c.308A>G (p.Lys103Arg)
|
rs2048680804
|
0.00002
|
NM_000292.3(PHKA2):c.3111+5C>T
|
rs756217257
|
0.00002
|
NM_000292.3(PHKA2):c.448G>A (p.Ala150Thr)
|
rs750886848
|
0.00002
|
NM_000292.3(PHKA2):c.869G>A (p.Arg290His)
|
rs186632999
|
0.00002
|
NM_000293.3(PHKB):c.1120A>G (p.Ile374Val)
|
rs1243574468
|
0.00002
|
NM_000293.3(PHKB):c.1153G>A (p.Val385Ile)
|
rs981615352
|
0.00002
|
NM_000293.3(PHKB):c.134T>A (p.Leu45His)
|
rs762053276
|
0.00002
|
NM_000293.3(PHKB):c.1546C>T (p.Gln516Ter)
|
rs758004953
|
0.00002
|
NM_000293.3(PHKB):c.1894A>G (p.Asn632Asp)
|
rs530842640
|
0.00002
|
NM_000294.3(PHKG2):c.-3A>G
|
rs1049581523
|
0.00002
|
NM_000294.3(PHKG2):c.1054A>G (p.Asn352Asp)
|
rs746361026
|
0.00002
|
NM_000294.3(PHKG2):c.959G>A (p.Arg320Gln)
|
rs756345604
|
0.00002
|
NM_000298.6(PKLR):c.909G>C (p.Pro303=)
|
rs200840994
|
0.00002
|
NM_000308.4(CTSA):c.-12G>C
|
rs770340993
|
0.00002
|
NM_000308.4(CTSA):c.1074A>T (p.Gln358His)
|
rs766994463
|
0.00002
|
NM_000308.4(CTSA):c.1081A>G (p.Met361Val)
|
rs752703552
|
0.00002
|
NM_000308.4(CTSA):c.1343C>T (p.Ala448Val)
|
rs185187245
|
0.00002
|
NM_000308.4(CTSA):c.1361G>T (p.Gly454Val)
|
rs373421813
|
0.00002
|
NM_000308.4(CTSA):c.319G>A (p.Gly107Ser)
|
rs886056713
|
0.00002
|
NM_000308.4(CTSA):c.693-3C>T
|
rs773034222
|
0.00002
|
NM_000308.4(CTSA):c.793C>T (p.Arg265Cys)
|
rs763381306
|
0.00002
|
NM_000340.2(SLC2A2):c.*1004G>A
|
rs1472003372
|
0.00002
|
NM_000340.2(SLC2A2):c.866T>G (p.Val289Gly)
|
rs780873643
|
0.00002
|
NM_000343.4(SLC5A1):c.*2132C>A
|
rs541518106
|
0.00002
|
NM_000343.4(SLC5A1):c.*638T>C
|
rs1049834917
|
0.00002
|
NM_000343.4(SLC5A1):c.1128T>C (p.Asn376=)
|
rs201834537
|
0.00002
|
NM_000343.4(SLC5A1):c.1136G>A (p.Arg379Gln)
|
rs747215838
|
0.00002
|
NM_000343.4(SLC5A1):c.1156A>G (p.Met386Val)
|
rs200964696
|
0.00002
|
NM_000343.4(SLC5A1):c.1267A>G (p.Met423Val)
|
rs773967126
|
0.00002
|
NM_000343.4(SLC5A1):c.1400T>C (p.Ile467Thr)
|
rs199872460
|
0.00002
|
NM_000343.4(SLC5A1):c.1603G>A (p.Ala535Thr)
|
rs759726503
|
0.00002
|
NM_000343.4(SLC5A1):c.1724C>T (p.Ala575Val)
|
rs185883847
|
0.00002
|
NM_000343.4(SLC5A1):c.1725G>A (p.Ala575=)
|
rs368853644
|
0.00002
|
NM_000343.4(SLC5A1):c.188G>A (p.Arg63Gln)
|
rs200352654
|
0.00002
|
NM_000343.4(SLC5A1):c.344T>G (p.Leu115Arg)
|
rs777391124
|
0.00002
|
NM_000343.4(SLC5A1):c.623C>T (p.Thr208Met)
|
rs199872285
|
0.00002
|
NM_000343.4(SLC5A1):c.709A>C (p.Met237Leu)
|
rs766404734
|
0.00002
|
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.1668C>T (p.Leu556=)
|
rs1287759139
|
0.00002
|
NM_000352.6(ABCC8):c.1716G>A (p.Ser572=)
|
rs750619309
|
0.00002
|
NM_000352.6(ABCC8):c.1767G>A (p.Pro589=)
|
rs550788491
|
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.2217G>T (p.Trp739Cys)
|
rs1331539684
|
0.00002
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
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.3517G>A (p.Val1173Met)
|
rs141322087
|
0.00002
|
NM_000352.6(ABCC8):c.3557+20G>C
|
rs764779784
|
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.3982C>A (p.Leu1328Ile)
|
rs774965446
|
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.4412-4T>G
|
rs1476016104
|
0.00002
|
NM_000352.6(ABCC8):c.4581C>T (p.Phe1527=)
|
rs773042150
|
0.00002
|
NM_000352.6(ABCC8):c.620C>T (p.Pro207Leu)
|
rs750165947
|
0.00002
|
NM_000352.6(ABCC8):c.813C>T (p.Asp271=)
|
rs569222899
|
0.00002
|
NM_000365.6(TPI1):c.543+5C>G
|
rs782153322
|
0.00002
|
NM_000404.4(GLB1):c.1143+3A>C
|
rs759517360
|
0.00002
|
NM_000404.4(GLB1):c.1343A>T (p.Asp448Val)
|
rs757926581
|
0.00002
|
NM_000404.4(GLB1):c.146G>A (p.Arg49His)
|
rs780523881
|
0.00002
|
NM_000404.4(GLB1):c.1568A>G (p.His523Arg)
|
rs1175119240
|
0.00002
|
NM_000404.4(GLB1):c.2030T>G (p.Val677Gly)
|
rs767685019
|
0.00002
|
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)
|
rs572237881
|
0.00002
|
NM_000404.4(GLB1):c.859G>A (p.Glu287Lys)
|
rs748853764
|
0.00002
|
NM_000434.4(NEU1):c.*180G>A
|
rs968121109
|
0.00002
|
NM_000434.4(NEU1):c.799-4T>C
|
rs759065536
|
0.00002
|
NM_000458.4(HNF1B):c.1390G>A (p.Gly464Ser)
|
rs982085453
|
0.00002
|
NM_000458.4(HNF1B):c.314A>G (p.Glu105Gly)
|
rs375625110
|
0.00002
|
NM_000507.3(FBP1):c.-219C>T
|
rs1057515693
|
0.00002
|
NM_000507.4(FBP1):c.721T>C (p.Tyr241His)
|
rs757338386
|
0.00002
|
NM_000512.5(GALNS):c.*263T>C
|
rs886052451
|
0.00002
|
NM_000512.5(GALNS):c.1052C>T (p.Ala351Val)
|
rs761386453
|
0.00002
|
NM_000512.5(GALNS):c.1059G>A (p.Ala353=)
|
rs768334388
|
0.00002
|
NM_000512.5(GALNS):c.1087A>G (p.Ile363Val)
|
rs758802414
|
0.00002
|
NM_000512.5(GALNS):c.1100A>G (p.Asn367Ser)
|
rs150111302
|
0.00002
|
NM_000512.5(GALNS):c.1108C>T (p.Pro370Ser)
|
rs749891007
|
0.00002
|
NM_000512.5(GALNS):c.1157G>A (p.Arg386His)
|
rs1221167717
|
0.00002
|
NM_000512.5(GALNS):c.1496C>T (p.Pro499Leu)
|
rs542835085
|
0.00002
|
NM_000512.5(GALNS):c.1540A>G (p.Ile514Val)
|
rs201153945
|
0.00002
|
NM_000512.5(GALNS):c.245-11C>T
|
rs552476248
|
0.00002
|
NM_000512.5(GALNS):c.256C>T (p.Leu86=)
|
rs190707335
|
0.00002
|
NM_000512.5(GALNS):c.304G>A (p.Ala102Thr)
|
rs372585484
|
0.00002
|
NM_000512.5(GALNS):c.47T>G (p.Val16Gly)
|
rs794729202
|
0.00002
|
NM_000512.5(GALNS):c.917T>G (p.Phe306Cys)
|
rs759590432
|
0.00002
|
NM_000512.5(GALNS):c.938C>T (p.Thr313Met)
|
rs894525161
|
0.00002
|
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
|
rs760892654
|
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.285C>T (p.Phe95=)
|
rs774849547
|
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.762G>A (p.Pro254=)
|
rs761931092
|
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_000528.4(MAN2B1):c.1100A>G (p.Asn367Ser)
|
rs771528526
|
0.00002
|
NM_000528.4(MAN2B1):c.1109+10G>A
|
rs779635675
|
0.00002
|
NM_000528.4(MAN2B1):c.1453G>A (p.Gly485Ser)
|
rs377509266
|
0.00002
|
NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser)
|
rs747721968
|
0.00002
|
NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=)
|
rs771761940
|
0.00002
|
NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg)
|
rs864621993
|
0.00002
|
NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys)
|
rs199700264
|
0.00002
|
NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=)
|
rs561895292
|
0.00002
|
NM_000528.4(MAN2B1):c.2659A>G (p.Thr887Ala)
|
rs1186717379
|
0.00002
|
NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)
|
rs768233248
|
0.00002
|
NM_000528.4(MAN2B1):c.2945C>T (p.Pro982Leu)
|
rs376856949
|
0.00002
|
NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys)
|
rs765088432
|
0.00002
|
NM_000528.4(MAN2B1):c.64T>C (p.Trp22Arg)
|
rs1329492928
|
0.00002
|
NM_000528.4(MAN2B1):c.659G>A (p.Arg220His)
|
rs1310537291
|
0.00002
|
NM_000545.8(HNF1A):c.125G>A (p.Gly42Asp)
|
rs1261968643
|
0.00002
|
NM_000545.8(HNF1A):c.1274C>T (p.Thr425Met)
|
rs1401743626
|
0.00002
|
NM_000545.8(HNF1A):c.1400C>T (p.Pro467Leu)
|
rs764483607
|
0.00002
|
NM_000545.8(HNF1A):c.1504C>G (p.Leu502Val)
|
rs924150546
|
0.00002
|
NM_000545.8(HNF1A):c.1533G>A (p.Gln511=)
|
rs147198532
|
0.00002
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
NM_000545.8(HNF1A):c.1592G>C (p.Ser531Thr)
|
rs137853246
|
0.00002
|
NM_000545.8(HNF1A):c.216C>T (p.Asp72=)
|
rs148961412
|
0.00002
|
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met)
|
rs774637975
|
0.00002
|
NM_000545.8(HNF1A):c.923C>T (p.Pro308Leu)
|
rs754306821
|
0.00002
|
NM_000642.3(AGL):c.1033G>A (p.Gly345Ser)
|
rs372121829
|
0.00002
|
NM_000642.3(AGL):c.1187C>T (p.Ala396Val)
|
rs747879201
|
0.00002
|
NM_000642.3(AGL):c.1280C>T (p.Thr427Ile)
|
rs897697440
|
0.00002
|
NM_000642.3(AGL):c.1422G>A (p.Pro474=)
|
rs144714696
|
0.00002
|
NM_000642.3(AGL):c.145A>G (p.Asn49Asp)
|
rs751982392
|
0.00002
|
NM_000642.3(AGL):c.1729A>G (p.Ile577Val)
|
rs762529905
|
0.00002
|
NM_000642.3(AGL):c.2053T>G (p.Leu685Val)
|
rs780518752
|
0.00002
|
NM_000642.3(AGL):c.2125C>T (p.His709Tyr)
|
rs1249716180
|
0.00002
|
NM_000642.3(AGL):c.2209C>T (p.Pro737Ser)
|
rs1369361901
|
0.00002
|
NM_000642.3(AGL):c.2386A>G (p.Ile796Val)
|
rs754127029
|
0.00002
|
NM_000642.3(AGL):c.2413G>A (p.Glu805Lys)
|
rs1368670677
|
0.00002
|
NM_000642.3(AGL):c.2506G>A (p.Glu836Lys)
|
rs781573434
|
0.00002
|
NM_000642.3(AGL):c.2632A>C (p.Ser878Arg)
|
rs146049603
|
0.00002
|
NM_000642.3(AGL):c.2682-7T>C
|
rs375256646
|
0.00002
|
NM_000642.3(AGL):c.2897T>C (p.Met966Thr)
|
rs377540254
|
0.00002
|
NM_000642.3(AGL):c.2944G>A (p.Ala982Thr)
|
rs781463740
|
0.00002
|
NM_000642.3(AGL):c.2966A>G (p.Gln989Arg)
|
rs759461084
|
0.00002
|
NM_000642.3(AGL):c.3013T>G (p.Cys1005Gly)
|
rs1245795149
|
0.00002
|
NM_000642.3(AGL):c.3127G>T (p.Gly1043Cys)
|
rs1422201126
|
0.00002
|
NM_000642.3(AGL):c.3155A>G (p.Lys1052Arg)
|
rs769337147
|
0.00002
|
NM_000642.3(AGL):c.3278C>A (p.Ser1093Tyr)
|
rs1316336745
|
0.00002
|
NM_000642.3(AGL):c.3289C>T (p.Arg1097Cys)
|
rs768133891
|
0.00002
|
NM_000642.3(AGL):c.3452G>A (p.Arg1151Gln)
|
rs376059155
|
0.00002
|
NM_000642.3(AGL):c.3528G>T (p.Lys1176Asn)
|
rs1171460627
|
0.00002
|
NM_000642.3(AGL):c.3548A>G (p.Tyr1183Cys)
|
rs775270593
|
0.00002
|
NM_000642.3(AGL):c.3635T>C (p.Met1212Thr)
|
rs779439947
|
0.00002
|
NM_000642.3(AGL):c.3653G>A (p.Arg1218Gln)
|
rs772774189
|
0.00002
|
NM_000642.3(AGL):c.3751G>A (p.Gly1251Arg)
|
rs745452268
|
0.00002
|
NM_000642.3(AGL):c.3836+3A>G
|
rs372921189
|
0.00002
|
NM_000642.3(AGL):c.3920C>G (p.Pro1307Arg)
|
rs988176424
|
0.00002
|
NM_000642.3(AGL):c.3968C>T (p.Ser1323Leu)
|
rs375493401
|
0.00002
|
NM_000642.3(AGL):c.4186A>G (p.Lys1396Glu)
|
rs539403694
|
0.00002
|
NM_000642.3(AGL):c.4382C>G (p.Ala1461Gly)
|
rs749209422
|
0.00002
|
NM_000642.3(AGL):c.4436T>C (p.Val1479Ala)
|
rs770178156
|
0.00002
|
NM_000642.3(AGL):c.4472A>G (p.His1491Arg)
|
rs760188084
|
0.00002
|
NM_000642.3(AGL):c.467A>G (p.Asn156Ser)
|
rs369767463
|
0.00002
|
NM_000642.3(AGL):c.754A>G (p.Arg252Gly)
|
rs373804474
|
0.00002
|
NM_000642.3(AGL):c.83G>A (p.Gly28Glu)
|
rs752771103
|
0.00002
|
NM_000642.3(AGL):c.880C>T (p.Pro294Ser)
|
rs886044917
|
0.00002
|
NM_000642.3(AGL):c.926C>T (p.Ala309Val)
|
rs762269076
|
0.00002
|
NM_000891.3(KCNJ2):c.*1367T>C
|
rs565257870
|
0.00002
|
NM_000891.3(KCNJ2):c.*1702CT[3]
|
rs1555604187
|
0.00002
|
NM_000891.3(KCNJ2):c.*2001A>G
|
rs886053336
|
0.00002
|
NM_000891.3(KCNJ2):c.1165G>A (p.Asp389Asn)
|
rs140053197
|
0.00002
|
NM_000891.3(KCNJ2):c.128G>A (p.Cys43Tyr)
|
rs774424161
|
0.00002
|
NM_000891.3(KCNJ2):c.236T>C (p.Ile79Thr)
|
rs786205813
|
0.00002
|
NM_000925.4(PDHB):c.1002T>C (p.Tyr334=)
|
rs755616546
|
0.00002
|
NM_000925.4(PDHB):c.106C>T (p.Arg36Cys)
|
rs763842440
|
0.00002
|
NM_000925.4(PDHB):c.841G>T (p.Ala281Ser)
|
rs148957406
|
0.00002
|
NM_000925.4(PDHB):c.956A>T (p.Asp319Val)
|
rs199983136
|
0.00002
|
NM_001008216.2(GALE):c.550C>T (p.Arg184Cys)
|
rs767796512
|
0.00002
|
NM_001008216.2(GALE):c.602C>T (p.Pro201Leu)
|
rs199904829
|
0.00002
|
NM_001008216.2(GALE):c.728A>C (p.His243Pro)
|
rs143015594
|
0.00002
|
NM_001008216.2(GALE):c.809G>A (p.Gly270Asp)
|
rs1226120841
|
0.00002
|
NM_001008216.2(GALE):c.812C>T (p.Thr271Met)
|
rs756331486
|
0.00002
|
NM_001008216.2(GALE):c.878C>T (p.Pro293Leu)
|
rs775072430
|
0.00002
|
NM_001008216.2(GALE):c.979G>C (p.Asp327His)
|
rs150326189
|
0.00002
|
NM_001040716.2(PC):c.*43C>T
|
rs751861809
|
0.00002
|
NM_001040716.2(PC):c.1150G>A (p.Ala384Thr)
|
rs1464614105
|
0.00002
|
NM_001040716.2(PC):c.1354G>A (p.Val452Ile)
|
rs779387492
|
0.00002
|
NM_001040716.2(PC):c.1377C>T (p.Ile459=)
|
rs201776268
|
0.00002
|
NM_001040716.2(PC):c.1514-13G>A
|
rs773976056
|
0.00002
|
NM_001040716.2(PC):c.1664G>A (p.Arg555Gln)
|
rs148613404
|
0.00002
|
NM_001040716.2(PC):c.2707G>A (p.Asp903Asn)
|
rs758910766
|
0.00002
|
NM_001040716.2(PC):c.2890C>T (p.Arg964Cys)
|
rs192822072
|
0.00002
|
NM_001040716.2(PC):c.3008C>T (p.Thr1003Met)
|
rs145046106
|
0.00002
|
NM_001040716.2(PC):c.3034A>G (p.Met1012Val)
|
rs1030212351
|
0.00002
|
NM_001040716.2(PC):c.3213C>T (p.Ala1071=)
|
rs774982916
|
0.00002
|
NM_001040716.2(PC):c.3214G>A (p.Gly1072Ser)
|
rs768048602
|
0.00002
|
NM_001040716.2(PC):c.543C>T (p.His181=)
|
rs139717038
|
0.00002
|
NM_001041.4(SI):c.1106A>G (p.Lys369Arg)
|
rs756534501
|
0.00002
|
NM_001041.4(SI):c.1303C>T (p.Arg435Cys)
|
rs370325800
|
0.00002
|
NM_001041.4(SI):c.1311T>C (p.Asn437=)
|
rs886058149
|
0.00002
|
NM_001041.4(SI):c.1616T>C (p.Met539Thr)
|
rs749835475
|
0.00002
|
NM_001041.4(SI):c.178T>C (p.Ser60Pro)
|
rs755487744
|
0.00002
|
NM_001041.4(SI):c.3197A>G (p.Glu1066Gly)
|
rs760887527
|
0.00002
|
NM_001041.4(SI):c.3242G>A (p.Ser1081Asn)
|
rs376341511
|
0.00002
|
NM_001041.4(SI):c.4203T>G (p.Phe1401Leu)
|
rs574552408
|
0.00002
|
NM_001041.4(SI):c.5109-3T>C
|
rs202110241
|
0.00002
|
NM_001041.4(SI):c.5320G>A (p.Val1774Ile)
|
rs771335037
|
0.00002
|
NM_001041.4(SI):c.636-14C>T
|
rs746808951
|
0.00002
|
NM_001041.4(SI):c.653G>T (p.Gly218Val)
|
rs775308282
|
0.00002
|
NM_001041.4(SI):c.788G>A (p.Arg263Gln)
|
rs143135955
|
0.00002
|
NM_001164277.2(SLC37A4):c.*204C>T
|
rs1299052310
|
0.00002
|
NM_001164277.2(SLC37A4):c.*263T>C
|
rs183965171
|
0.00002
|
NM_001164277.2(SLC37A4):c.-530G>A
|
rs1417861590
|
0.00002
|
NM_001164277.2(SLC37A4):c.1129G>A (p.Gly377Ser)
|
rs782255299
|
0.00002
|
NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn)
|
rs1035199340
|
0.00002
|
NM_001164277.2(SLC37A4):c.1252C>T (p.Arg418Cys)
|
rs376140990
|
0.00002
|
NM_001164277.2(SLC37A4):c.149-7C>T
|
rs1316874319
|
0.00002
|
NM_001164277.2(SLC37A4):c.158C>T (p.Thr53Ile)
|
rs953252068
|
0.00002
|
NM_001164277.2(SLC37A4):c.382-10T>C
|
rs914753772
|
0.00002
|
NM_001164277.2(SLC37A4):c.382-4A>C
|
rs923058912
|
0.00002
|
NM_001164277.2(SLC37A4):c.839C>T (p.Ala280Val)
|
rs555640045
|
0.00002
|
NM_001164277.2(SLC37A4):c.944T>C (p.Met315Thr)
|
rs781834870
|
0.00002
|
NM_001164277.2(SLC37A4):c.955C>T (p.Arg319Trp)
|
rs376730573
|
0.00002
|
NM_001164277.2(SLC37A4):c.985+240_985+241insTA
|
rs782397393
|
0.00002
|
NM_001243177.4(ALDOA):c.475G>T (p.Val159Leu)
|
rs570385246
|
0.00002
|
NM_001243177.4(ALDOA):c.639C>G (p.Pro213=)
|
rs758499704
|
0.00002
|
NM_001243177.4(ALDOA):c.807G>T (p.Lys269Asn)
|
rs1455309434
|
0.00002
|
NM_001271838.2(RSRC1):c.196C>T (p.Arg66Cys)
|
rs772577036
|
0.00002
|
NM_001352514.2(HLCS):c.*1071G>A
|
rs987334114
|
0.00002
|
NM_001352514.2(HLCS):c.*14C>T
|
rs778616712
|
0.00002
|
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)
|
rs781603756
|
0.00002
|
NM_001352514.2(HLCS):c.1810C>T (p.Arg604Cys)
|
rs547391411
|
0.00002
|
NM_001352514.2(HLCS):c.2036C>A (p.Ser679Tyr)
|
rs777373322
|
0.00002
|
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)
|
rs119103228
|
0.00002
|
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=)
|
rs760265551
|
0.00002
|
NM_001352514.2(HLCS):c.2476G>A (p.Ala826Thr)
|
rs376898721
|
0.00002
|
NM_001352514.2(HLCS):c.2545G>A (p.Gly849Ser)
|
rs773752745
|
0.00002
|
NM_001352514.2(HLCS):c.2548G>A (p.Glu850Lys)
|
rs145337682
|
0.00002
|
NM_001352514.2(HLCS):c.941A>G (p.Tyr314Cys)
|
rs778638155
|
0.00002
|
NM_001360016.2(G6PD):c.*466C>G
|
rs1239325414
|
0.00002
|
NM_001360016.2(G6PD):c.1101C>T (p.Ala367=)
|
rs1256250108
|
0.00002
|
NM_001360016.2(G6PD):c.1164C>T (p.Asn388=)
|
rs782623392
|
0.00002
|
NM_001360016.2(G6PD):c.1480G>A (p.Glu494Lys)
|
rs1377337822
|
0.00002
|
NM_001360016.2(G6PD):c.220C>T (p.Arg74Cys)
|
rs781848254
|
0.00002
|
NM_001360016.2(G6PD):c.750C>T (p.Phe250=)
|
rs140496395
|
0.00002
|
NM_001360016.2(G6PD):c.754G>A (p.Glu252Lys)
|
rs782216807
|
0.00002
|
NM_001360016.2(G6PD):c.771-11T>C
|
rs782622284
|
0.00002
|
NM_001370658.1(BTD):c.-87G>T
|
rs755119589
|
0.00002
|
NM_001370658.1(BTD):c.1042G>A (p.Asp348Asn)
|
rs769903360
|
0.00002
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_001370658.1(BTD):c.1406A>C (p.Asn469Thr)
|
rs104893692
|
0.00002
|
NM_001370658.1(BTD):c.1425C>A (p.Ile475=)
|
rs780182371
|
0.00002
|
NM_001370658.1(BTD):c.616A>G (p.Lys206Glu)
|
rs1003975438
|
0.00002
|
NM_001370658.1(BTD):c.635T>G (p.Phe212Cys)
|
rs768097543
|
0.00002
|
NM_001370658.1(BTD):c.751G>T (p.Ala251Ser)
|
rs144575084
|
0.00002
|
NM_001715.3(BLK):c.41C>T (p.Pro14Leu)
|
rs769734763
|
0.00002
|
NM_001715.3(BLK):c.571C>A (p.Pro191Thr)
|
rs769895420
|
0.00002
|
NM_001715.3(BLK):c.773-9C>T
|
rs772158649
|
0.00002
|
NM_001739.2(CA5A):c.445G>A (p.Ala149Thr)
|
rs553819990
|
0.00002
|
NM_001807.6(CEL):c.1402G>A (p.Ala468Thr)
|
rs777913068
|
0.00002
|
NM_001807.6(CEL):c.341-2A>G
|
rs755075929
|
0.00002
|
NM_001807.6(CEL):c.895+2dup
|
rs1027973097
|
0.00002
|
NM_001931.5(DLAT):c.1289G>A (p.Arg430Gln)
|
rs782627956
|
0.00002
|
NM_001931.5(DLAT):c.160G>T (p.Gly54Trp)
|
rs782529801
|
0.00002
|
NM_002076.4(GNS):c.*2740G>A
|
rs886049761
|
0.00002
|
NM_002076.4(GNS):c.148G>A (p.Val50Met)
|
rs776163695
|
0.00002
|
NM_002076.4(GNS):c.1618G>A (p.Gly540Ser)
|
rs771940326
|
0.00002
|
NM_002076.4(GNS):c.285A>G (p.Arg95=)
|
rs545765198
|
0.00002
|
NM_002076.4(GNS):c.463G>A (p.Gly155Arg)
|
rs1402191110
|
0.00002
|
NM_002076.4(GNS):c.578G>A (p.Arg193Gln)
|
rs368261202
|
0.00002
|
NM_002076.4(GNS):c.895G>A (p.Val299Ile)
|
rs1327778268
|
0.00002
|
NM_002103.5(GYS1):c.-26C>T
|
rs202114467
|
0.00002
|
NM_002103.5(GYS1):c.1020C>T (p.Asp340=)
|
rs13306415
|
0.00002
|
NM_002103.5(GYS1):c.1075G>A (p.Glu359Lys)
|
rs778215783
|
0.00002
|
NM_002103.5(GYS1):c.1079A>T (p.Gln360Leu)
|
rs759812102
|
0.00002
|
NM_002103.5(GYS1):c.1236C>G (p.Ser412Arg)
|
rs753922665
|
0.00002
|
NM_002103.5(GYS1):c.1303A>G (p.Thr435Ala)
|
rs775775270
|
0.00002
|
NM_002103.5(GYS1):c.146C>T (p.Thr49Met)
|
rs748894032
|
0.00002
|
NM_002103.5(GYS1):c.1492C>T (p.Arg498Cys)
|
rs766146709
|
0.00002
|
NM_002103.5(GYS1):c.1559C>T (p.Thr520Met)
|
rs747911098
|
0.00002
|
NM_002103.5(GYS1):c.2120A>C (p.Lys707Thr)
|
rs1205499394
|
0.00002
|
NM_002103.5(GYS1):c.584G>A (p.Arg195Gln)
|
rs1465178449
|
0.00002
|
NM_002103.5(GYS1):c.740C>T (p.Ala247Val)
|
rs1318179540
|
0.00002
|
NM_002103.5(GYS1):c.803A>T (p.His268Leu)
|
rs769630976
|
0.00002
|
NM_002103.5(GYS1):c.941+4C>T
|
rs374388103
|
0.00002
|
NM_002103.5(GYS1):c.945T>A (p.His315Gln)
|
rs2038779389
|
0.00002
|
NM_002294.3(LAMP2):c.*3263T>C
|
rs1164559557
|
0.00002
|
NM_002294.3(LAMP2):c.1078G>A (p.Gly360Arg)
|
rs781134467
|
0.00002
|
NM_002294.3(LAMP2):c.1160G>C (p.Gly387Ala)
|
rs2058522449
|
0.00002
|
NM_002294.3(LAMP2):c.183T>C (p.Tyr61=)
|
rs397516736
|
0.00002
|
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg)
|
rs727504953
|
0.00002
|
NM_002294.3(LAMP2):c.284G>T (p.Gly95Val)
|
rs755790073
|
0.00002
|
NM_002294.3(LAMP2):c.340G>A (p.Val114Ile)
|
rs377652722
|
0.00002
|
NM_002294.3(LAMP2):c.64+6T>C
|
rs1921660826
|
0.00002
|
NM_002294.3(LAMP2):c.778C>T (p.His260Tyr)
|
rs778577575
|
0.00002
|
NM_002294.3(LAMP2):c.977G>C (p.Gly326Ala)
|
rs991396612
|
0.00002
|
NM_002299.4(LCT):c.2618C>T (p.Pro873Leu)
|
rs367727872
|
0.00002
|
NM_002299.4(LCT):c.3759G>A (p.Thr1253=)
|
rs764860323
|
0.00002
|
NM_002299.4(LCT):c.3986C>T (p.Thr1329Met)
|
rs555708380
|
0.00002
|
NM_002299.4(LCT):c.4714A>T (p.Ile1572Leu)
|
rs757978538
|
0.00002
|
NM_002299.4(LCT):c.5723G>A (p.Arg1908His)
|
rs577825311
|
0.00002
|
NM_002300.8(LDHB):c.782T>C (p.Ile261Thr)
|
rs775184475
|
0.00002
|
NM_002591.4(PCK1):c.*249G>T
|
rs886056796
|
0.00002
|
NM_002591.4(PCK1):c.*92C>T
|
rs17847706
|
0.00002
|
NM_002591.4(PCK1):c.-3G>A
|
rs780659077
|
0.00002
|
NM_002591.4(PCK1):c.1537C>T (p.His513Tyr)
|
rs267606016
|
0.00002
|
NM_002591.4(PCK1):c.1644C>G (p.Ala548=)
|
rs183812420
|
0.00002
|
NM_002591.4(PCK1):c.955G>A (p.Ala319Thr)
|
rs747438321
|
0.00002
|
NM_002637.4(PHKA1):c.1429C>T (p.Arg477Cys)
|
rs1556296540
|
0.00002
|
NM_002637.4(PHKA1):c.1540C>T (p.Arg514Trp)
|
rs181530232
|
0.00002
|
NM_002637.4(PHKA1):c.184C>T (p.Arg62Trp)
|
rs781996165
|
0.00002
|
NM_002637.4(PHKA1):c.2916C>T (p.Ser972=)
|
rs782102345
|
0.00002
|
NM_002637.4(PHKA1):c.3088A>G (p.Met1030Val)
|
rs782360415
|
0.00002
|
NM_002637.4(PHKA1):c.3166C>T (p.Arg1056Cys)
|
rs782514332
|
0.00002
|
NM_002637.4(PHKA1):c.3257C>A (p.Ser1086Tyr)
|
rs375128462
|
0.00002
|
NM_002637.4(PHKA1):c.3297+5G>A
|
rs781901953
|
0.00002
|
NM_002637.4(PHKA1):c.3622G>A (p.Ala1208Thr)
|
rs782814716
|
0.00002
|
NM_002637.4(PHKA1):c.442A>G (p.Met148Val)
|
rs781837256
|
0.00002
|
NM_002863.5(PYGL):c.1597C>T (p.Arg533Trp)
|
rs757446684
|
0.00002
|
NM_002863.5(PYGL):c.2110G>A (p.Ala704Thr)
|
rs555408487
|
0.00002
|
NM_002863.5(PYGL):c.2204C>T (p.Ala735Val)
|
rs767910015
|
0.00002
|
NM_002863.5(PYGL):c.2215C>A (p.Leu739Met)
|
rs766875279
|
0.00002
|
NM_002863.5(PYGL):c.329A>T (p.Asp110Val)
|
rs774026070
|
0.00002
|
NM_002863.5(PYGL):c.425-5T>G
|
rs1025550045
|
0.00002
|
NM_003041.4(SLC5A2):c.1388T>C (p.Leu463Pro)
|
rs750441217
|
0.00002
|
NM_003041.4(SLC5A2):c.1594G>A (p.Val532Met)
|
rs760834878
|
0.00002
|
NM_003041.4(SLC5A2):c.1895A>C (p.Glu632Ala)
|
rs753477563
|
0.00002
|
NM_003041.4(SLC5A2):c.1902G>A (p.Ala634=)
|
rs372404252
|
0.00002
|
NM_003041.4(SLC5A2):c.19G>A (p.Ala7Thr)
|
rs769746256
|
0.00002
|
NM_003041.4(SLC5A2):c.395G>A (p.Arg132His)
|
rs193920818
|
0.00002
|
NM_003041.4(SLC5A2):c.886G>C (p.Val296Leu)
|
rs778273828
|
0.00002
|
NM_003051.4(SLC16A1):c.1281C>T (p.Gly427=)
|
rs779279429
|
0.00002
|
NM_003384.3(VRK1):c.220C>G (p.Pro74Ala)
|
rs756589419
|
0.00002
|
NM_003384.3(VRK1):c.26C>T (p.Ala9Val)
|
rs771269721
|
0.00002
|
NM_003384.3(VRK1):c.308G>A (p.Arg103His)
|
rs779386449
|
0.00002
|
NM_003477.3(PDHX):c.511G>A (p.Val171Ile)
|
rs142256229
|
0.00002
|
NM_003597.5(KLF11):c.*1320G>A
|
rs555032852
|
0.00002
|
NM_003597.5(KLF11):c.*2081C>T
|
rs886054736
|
0.00002
|
NM_003597.5(KLF11):c.*954C>G
|
rs886054728
|
0.00002
|
NM_003597.5(KLF11):c.811A>C (p.Lys271Gln)
|
rs368207952
|
0.00002
|
NM_003597.5(KLF11):c.994C>T (p.Pro332Ser)
|
rs375265808
|
0.00002
|
NM_003619.4(PRSS12):c.*1573G>A
|
rs931601172
|
0.00002
|
NM_003619.4(PRSS12):c.910G>A (p.Val304Ile)
|
rs781361976
|
0.00002
|
NM_003754.3(EIF3F):c.908C>T (p.Thr303Ile)
|
rs772380740
|
0.00002
|
NM_004130.4(GYG1):c.755T>C (p.Ile252Thr)
|
rs552267180
|
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.55C>T (p.Leu19=)
|
rs892387294
|
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.863A>C (p.Gln288Pro)
|
rs751120678
|
0.00002
|
NM_005566.4(LDHA):c.*835A>G
|
rs886048092
|
0.00002
|
NM_005566.4(LDHA):c.249T>C (p.Tyr83=)
|
rs199653952
|
0.00002
|
NM_005609.4(PYGM):c.1216G>A (p.Glu406Lys)
|
rs781394907
|
0.00002
|
NM_005609.4(PYGM):c.1239+8C>T
|
rs886048461
|
0.00002
|
NM_005609.4(PYGM):c.1315C>T (p.Arg439Cys)
|
rs758774720
|
0.00002
|
NM_005609.4(PYGM):c.1354G>A (p.Ala452Thr)
|
rs746021869
|
0.00002
|
NM_005609.4(PYGM):c.1384G>A (p.Glu462Lys)
|
rs769805782
|
0.00002
|
NM_005609.4(PYGM):c.178G>A (p.Val60Met)
|
rs765962705
|
0.00002
|
NM_005609.4(PYGM):c.1881C>T (p.Ile627=)
|
rs369361532
|
0.00002
|
NM_005609.4(PYGM):c.1918C>T (p.Arg640Cys)
|
rs771016457
|
0.00002
|
NM_005609.4(PYGM):c.2032G>A (p.Gly678Ser)
|
rs755716626
|
0.00002
|
NM_005609.4(PYGM):c.2054A>G (p.Asn685Ser)
|
rs765656412
|
0.00002
|
NM_005609.4(PYGM):c.2107G>A (p.Glu703Lys)
|
rs984250045
|
0.00002
|
NM_005609.4(PYGM):c.2335G>A (p.Glu779Lys)
|
rs1014177089
|
0.00002
|
NM_005609.4(PYGM):c.2398C>T (p.Arg800Trp)
|
rs759260599
|
0.00002
|
NM_005609.4(PYGM):c.346-9C>T
|
rs368998655
|
0.00002
|
NM_005609.4(PYGM):c.347T>C (p.Leu116Pro)
|
rs776680924
|
0.00002
|
NM_005609.4(PYGM):c.481C>T (p.Arg161Cys)
|
rs200038732
|
0.00002
|
NM_005609.4(PYGM):c.658C>A (p.Gln220Lys)
|
rs753533515
|
0.00002
|
NM_005609.4(PYGM):c.818C>T (p.Ala273Val)
|
rs768576604
|
0.00002
|
NM_005609.4(PYGM):c.875T>C (p.Leu292Pro)
|
rs780375860
|
0.00002
|
NM_005908.4(MANBA):c.*447G>A
|
rs1025033156
|
0.00002
|
NM_005908.4(MANBA):c.*516T>C
|
rs562838260
|
0.00002
|
NM_005908.4(MANBA):c.1317+14C>A
|
rs200935345
|
0.00002
|
NM_005908.4(MANBA):c.1339C>T (p.Pro447Ser)
|
rs755785845
|
0.00002
|
NM_005908.4(MANBA):c.1439A>G (p.Asp480Gly)
|
rs201830848
|
0.00002
|
NM_005908.4(MANBA):c.1471G>A (p.Glu491Lys)
|
rs1578882546
|
0.00002
|
NM_005908.4(MANBA):c.1709C>T (p.Ser570Leu)
|
rs542071291
|
0.00002
|
NM_005908.4(MANBA):c.1846A>G (p.Lys616Glu)
|
rs772091430
|
0.00002
|
NM_005908.4(MANBA):c.2389G>A (p.Val797Met)
|
rs747236675
|
0.00002
|
NM_005908.4(MANBA):c.378+1G>A
|
rs142029636
|
0.00002
|
NM_005908.4(MANBA):c.536A>G (p.Asn179Ser)
|
rs202004084
|
0.00002
|
NM_005908.4(MANBA):c.778A>G (p.Thr260Ala)
|
rs762887276
|
0.00002
|
NM_005908.4(MANBA):c.818G>A (p.Arg273Lys)
|
rs774776210
|
0.00002
|
NM_005915.6(MCM6):c.1654A>G (p.Ile552Val)
|
rs776037433
|
0.00002
|
NM_006488.3(KHK):c.*28T>C
|
rs745543858
|
0.00002
|
NM_006488.3(KHK):c.*49C>T
|
rs776688675
|
0.00002
|
NM_006488.3(KHK):c.-15T>G
|
rs763655731
|
0.00002
|
NM_006488.3(KHK):c.210-283C>T
|
rs886055886
|
0.00002
|
NM_006516.2(SLC2A1):c.-225T>G
|
rs886046343
|
0.00002
|
NM_006516.4(SLC2A1):c.*514G>T
|
rs886046339
|
0.00002
|
NM_006516.4(SLC2A1):c.1001G>A (p.Arg334Gln)
|
rs892715050
|
0.00002
|
NM_006516.4(SLC2A1):c.103G>T (p.Ala35Ser)
|
rs796053245
|
0.00002
|
NM_006516.4(SLC2A1):c.136C>G (p.Gln46Glu)
|
rs754791604
|
0.00002
|
NM_006516.4(SLC2A1):c.1445T>C (p.Leu482Pro)
|
rs748340730
|
0.00002
|
NM_006516.4(SLC2A1):c.172C>T (p.Pro58Ser)
|
rs765479065
|
0.00002
|
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met)
|
rs74323945
|
0.00002
|
NM_006516.4(SLC2A1):c.668G>A (p.Arg223Gln)
|
rs397514564
|
0.00002
|
NM_006516.4(SLC2A1):c.790C>T (p.Arg264Cys)
|
rs766376173
|
0.00002
|
NM_006516.4(SLC2A1):c.903G>A (p.Ala301=)
|
rs776461617
|
0.00002
|
NM_006516.4(SLC2A1):c.946G>A (p.Val316Ile)
|
rs920394412
|
0.00002
|
NM_006516.4(SLC2A1):c.967G>A (p.Val323Met)
|
rs749426767
|
0.00002
|
NM_006569.6(CGREF1):c.*570G>A
|
rs1459521395
|
0.00002
|
NM_006721.4(ADK):c.*337T>G
|
rs886047238
|
0.00002
|
NM_006859.4(LIAS):c.101A>G (p.Lys34Arg)
|
rs185737442
|
0.00002
|
NM_006859.4(LIAS):c.403G>C (p.Asp135His)
|
rs772011702
|
0.00002
|
NM_006859.4(LIAS):c.616A>G (p.Lys206Glu)
|
rs1328126199
|
0.00002
|
NM_006859.4(LIAS):c.788A>G (p.Lys263Arg)
|
rs1375530921
|
0.00002
|
NM_006859.4(LIAS):c.890G>A (p.Arg297His)
|
rs756021613
|
0.00002
|
NM_012203.2(GRHPR):c.108G>A (p.Ser36=)
|
rs377072887
|
0.00002
|
NM_012203.2(GRHPR):c.511C>T (p.Arg171Cys)
|
rs370733771
|
0.00002
|
NM_012203.2(GRHPR):c.682A>G (p.Lys228Glu)
|
rs74692381
|
0.00002
|
NM_012203.2(GRHPR):c.866-2A>G
|
rs200316691
|
0.00002
|
NM_012434.5(SLC17A5):c.*1566G>A
|
rs886061726
|
0.00002
|
NM_012434.5(SLC17A5):c.1056A>C (p.Leu352Phe)
|
rs985998169
|
0.00002
|
NM_012434.5(SLC17A5):c.1333A>G (p.Lys445Glu)
|
rs751011039
|
0.00002
|
NM_012434.5(SLC17A5):c.1481G>C (p.Arg494Thr)
|
rs201009218
|
0.00002
|
NM_012434.5(SLC17A5):c.842C>T (p.Pro281Leu)
|
rs138041282
|
0.00002
|
NM_014806.5(RUSC2):c.1568G>A (p.Arg523His)
|
rs753457122
|
0.00002
|
NM_014806.5(RUSC2):c.1747C>T (p.Arg583Trp)
|
rs756124282
|
0.00002
|
NM_016042.4(EXOSC3):c.*194G>C
|
rs886063933
|
0.00002
|
NM_016042.4(EXOSC3):c.324+15C>T
|
rs775818894
|
0.00002
|
NM_016203.4(PRKAG2):c.1051+3A>G
|
rs376499470
|
0.00002
|
NM_016203.4(PRKAG2):c.106C>T (p.His36Tyr)
|
rs377603922
|
0.00002
|
NM_016203.4(PRKAG2):c.113C>T (p.Pro38Leu)
|
rs984007665
|
0.00002
|
NM_016203.4(PRKAG2):c.1432G>A (p.Val478Ile)
|
rs778668093
|
0.00002
|
NM_016203.4(PRKAG2):c.1648A>C (p.Ile550Leu)
|
rs752198913
|
0.00002
|
NM_016203.4(PRKAG2):c.1705G>C (p.Glu569Gln)
|
rs730880983
|
0.00002
|
NM_016203.4(PRKAG2):c.181C>T (p.Arg61Ter)
|
rs770100112
|
0.00002
|
NM_016203.4(PRKAG2):c.431C>T (p.Pro144Leu)
|
rs150140412
|
0.00002
|
NM_016203.4(PRKAG2):c.557G>A (p.Arg186Gln)
|
rs145006140
|
0.00002
|
NM_016219.5(MAN1B1):c.*259G>A
|
rs886063732
|
0.00002
|
NM_016219.5(MAN1B1):c.*489G>A
|
rs572418621
|
0.00002
|
NM_016219.5(MAN1B1):c.1255-13C>T
|
rs765403325
|
0.00002
|
NM_016219.5(MAN1B1):c.1546G>A (p.Gly516Ser)
|
rs760557104
|
0.00002
|
NM_016219.5(MAN1B1):c.2056T>C (p.Phe686Leu)
|
rs754917525
|
0.00002
|
NM_016219.5(MAN1B1):c.603G>A (p.Pro201=)
|
rs779234844
|
0.00002
|
NM_016219.5(MAN1B1):c.657C>T (p.Thr219=)
|
rs564784943
|
0.00002
|
NM_016219.5(MAN1B1):c.776A>G (p.His259Arg)
|
rs201673635
|
0.00002
|
NM_016219.5(MAN1B1):c.975C>T (p.Asp325=)
|
rs202157161
|
0.00002
|
NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp)
|
rs781491587
|
0.00002
|
NM_017755.6(NSUN2):c.2006A>G (p.Asp669Gly)
|
rs762093598
|
0.00002
|
NM_017755.6(NSUN2):c.2283G>A (p.Ala761=)
|
rs752702755
|
0.00002
|
NM_017755.6(NSUN2):c.255-4A>G
|
rs201837443
|
0.00002
|
NM_017950.4(CCDC40):c.3212G>A (p.Arg1071His)
|
rs142135083
|
0.00002
|
NM_018255.4(ELP2):c.178C>T (p.Arg60Ter)
|
rs553697188
|
0.00002
|
NM_018255.4(ELP2):c.2045A>T (p.Lys682Met)
|
rs113810922
|
0.00002
|
NM_018297.4(NGLY1):c.889A>T (p.Asn297Tyr)
|
rs763397227
|
0.00002
|
NM_018444.4(PDP1):c.1355A>G (p.Lys452Arg)
|
rs749767366
|
0.00002
|
NM_021956.5(GRIK2):c.2310G>T (p.Met770Ile)
|
rs745663188
|
0.00002
|
NM_021956.5(GRIK2):c.662G>A (p.Gly221Asp)
|
rs745990822
|
0.00002
|
NM_021957.4(GYS2):c.1279A>C (p.Ile427Leu)
|
rs201855039
|
0.00002
|
NM_021957.4(GYS2):c.1362C>T (p.Asp454=)
|
rs144580757
|
0.00002
|
NM_021957.4(GYS2):c.241T>A (p.Cys81Ser)
|
rs146200724
|
0.00002
|
NM_021957.4(GYS2):c.756T>C (p.Ala252=)
|
rs886049159
|
0.00002
|
NM_024298.5(MBOAT7):c.1126G>A (p.Glu376Lys)
|
rs758805684
|
0.00002
|
NM_024298.5(MBOAT7):c.497C>T (p.Pro166Leu)
|
rs1233952774
|
0.00002
|
NM_024298.5(MBOAT7):c.854+8G>A
|
rs751520193
|
0.00002
|
NM_024989.4(PGAP1):c.2004T>A (p.Asp668Glu)
|
rs200637575
|
0.00002
|
NM_024989.4(PGAP1):c.2174T>A (p.Ile725Asn)
|
rs758283563
|
0.00002
|
NM_024989.4(PGAP1):c.2587A>G (p.Met863Val)
|
rs771720370
|
0.00002
|
NM_024989.4(PGAP1):c.479G>A (p.Gly160Asp)
|
rs771798393
|
0.00002
|
NM_024989.4(PGAP1):c.843C>A (p.Asp281Glu)
|
rs1176534322
|
0.00002
|
NM_030805.4(LMAN2L):c.652G>A (p.Val218Ile)
|
rs753445500
|
0.00002
|
NM_031229.4(RBCK1):c.1117A>T (p.Thr373Ser)
|
rs531364402
|
0.00002
|
NM_031229.4(RBCK1):c.175G>C (p.Val59Leu)
|
rs751582683
|
0.00002
|
NM_031229.4(RBCK1):c.448C>T (p.Arg150Trp)
|
rs778995926
|
0.00002
|
NM_031229.4(RBCK1):c.547C>G (p.Arg183Gly)
|
rs747821371
|
0.00002
|
NM_031229.4(RBCK1):c.674A>G (p.Gln225Arg)
|
rs905456806
|
0.00002
|
NM_031466.8(TRAPPC9):c.-249C>T
|
rs1446002001
|
0.00002
|
NM_033159.4(HYAL1):c.449G>A (p.Arg150His)
|
rs782788446
|
0.00002
|
NM_033159.4(HYAL1):c.734G>A (p.Ser245Asn)
|
rs376502179
|
0.00002
|
NM_033159.4(HYAL1):c.915C>T (p.His305=)
|
rs1290078379
|
0.00002
|
NM_053013.4(ENO3):c.1160G>A (p.Gly387Glu)
|
rs761121808
|
0.00002
|
NM_053013.4(ENO3):c.554G>T (p.Gly185Val)
|
rs200324278
|
0.00002
|
NM_053013.4(ENO3):c.555C>T (p.Gly185=)
|
rs757606682
|
0.00002
|
NM_138413.4(HOGA1):c.*109C>T
|
rs534886813
|
0.00002
|
NM_138413.4(HOGA1):c.208C>T (p.Arg70Ter)
|
rs758304537
|
0.00002
|
NM_138413.4(HOGA1):c.289C>T (p.Arg97Cys)
|
rs267606762
|
0.00002
|
NM_138413.4(HOGA1):c.385G>A (p.Gly129Arg)
|
rs778171847
|
0.00002
|
NM_138413.4(HOGA1):c.39G>A (p.Gly13=)
|
rs200127255
|
0.00002
|
NM_138501.6(TECR):c.161C>G (p.Pro54Arg)
|
rs772297819
|
0.00002
|
NM_144563.3(RPIA):c.218C>G (p.Ser73Cys)
|
rs372920523
|
0.00002
|
NM_144563.3(RPIA):c.527+11T>C
|
rs777127840
|
0.00002
|
NM_152419.3(HGSNAT):c.*619T>C
|
rs1000241712
|
0.00002
|
NM_152419.3(HGSNAT):c.*649A>G
|
rs1333110406
|
0.00002
|
NM_152419.3(HGSNAT):c.1070T>C (p.Phe357Ser)
|
rs749415090
|
0.00002
|
NM_152419.3(HGSNAT):c.1128+3G>A
|
rs1401358094
|
0.00002
|
NM_152419.3(HGSNAT):c.1209G>T (p.Trp403Cys)
|
rs764206492
|
0.00002
|
NM_152419.3(HGSNAT):c.1456G>A (p.Gly486Arg)
|
rs773361163
|
0.00002
|
NM_152419.3(HGSNAT):c.1559C>T (p.Ala520Val)
|
rs374619489
|
0.00002
|
NM_152419.3(HGSNAT):c.1614-10C>T
|
rs755029430
|
0.00002
|
NM_152419.3(HGSNAT):c.1634C>T (p.Thr545Met)
|
rs377050184
|
0.00002
|
NM_152419.3(HGSNAT):c.278C>T (p.Ala93Val)
|
rs372055513
|
0.00002
|
NM_152419.3(HGSNAT):c.370A>T (p.Arg124Trp)
|
rs754875934
|
0.00002
|
NM_152419.3(HGSNAT):c.371+15T>A
|
rs372920077
|
0.00002
|
NM_152419.3(HGSNAT):c.636G>T (p.Glu212Asp)
|
rs774990357
|
0.00002
|
NM_152419.3(HGSNAT):c.748G>A (p.Ala250Thr)
|
rs773638310
|
0.00002
|
NM_175914.5(HNF4A):c.*867G>A
|
rs940169046
|
0.00002
|
NM_175914.5(HNF4A):c.1020C>G (p.Gly340=)
|
rs758836138
|
0.00002
|
NM_175914.5(HNF4A):c.1267C>T (p.Pro423Ser)
|
rs1063239
|
0.00002
|
NM_181503.3(EXOSC8):c.13T>C (p.Phe5Leu)
|
rs200881798
|
0.00002
|
NM_198586.3(NHLRC1):c.*210T>C
|
rs1370146880
|
0.00002
|
NM_198586.3(NHLRC1):c.1027A>G (p.Ile343Val)
|
rs750935925
|
0.00002
|
NM_198586.3(NHLRC1):c.103C>G (p.His35Asp)
|
rs752045674
|
0.00002
|
NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly)
|
rs200201752
|
0.00002
|
NM_198586.3(NHLRC1):c.1174G>A (p.Val392Ile)
|
rs765576968
|
0.00002
|
NM_198586.3(NHLRC1):c.196C>T (p.Leu66Phe)
|
rs553900705
|
0.00002
|
NM_198586.3(NHLRC1):c.234C>G (p.Cys78Trp)
|
rs755232826
|
0.00002
|
NM_198586.3(NHLRC1):c.308C>T (p.Ala103Val)
|
rs774955028
|
0.00002
|
NM_198586.3(NHLRC1):c.481G>A (p.Ala161Thr)
|
rs201476733
|
0.00002
|
NM_198586.3(NHLRC1):c.643T>C (p.Phe215Leu)
|
rs753591736
|
0.00002
|
NM_198586.3(NHLRC1):c.713C>T (p.Ser238Phe)
|
rs747276703
|
0.00002
|
NM_000027.3(AGA):c.-94G>A
|
rs886059264
|
0.00001
|
NM_000027.4(AGA):c.*48G>A
|
rs752452878
|
0.00001
|
NM_000027.4(AGA):c.*635A>G
|
rs1175193567
|
0.00001
|
NM_000027.4(AGA):c.*868C>G
|
rs886059258
|
0.00001
|
NM_000027.4(AGA):c.1030G>C (p.Asp344His)
|
rs776865078
|
0.00001
|
NM_000027.4(AGA):c.115G>A (p.Ala39Thr)
|
rs763326444
|
0.00001
|
NM_000027.4(AGA):c.167C>T (p.Ala56Val)
|
rs758886928
|
0.00001
|
NM_000027.4(AGA):c.178G>A (p.Gly60Ser)
|
rs1489211352
|
0.00001
|
NM_000027.4(AGA):c.28C>G (p.Leu10Val)
|
rs753394137
|
0.00001
|
NM_000027.4(AGA):c.362A>G (p.His121Arg)
|
rs1282622869
|
0.00001
|
NM_000027.4(AGA):c.38C>T (p.Pro13Leu)
|
rs759832068
|
0.00001
|
NM_000027.4(AGA):c.390G>C (p.Glu130Asp)
|
rs770240412
|
0.00001
|
NM_000027.4(AGA):c.515T>C (p.Ile172Thr)
|
rs745924498
|
0.00001
|
NM_000027.4(AGA):c.574A>G (p.Ile192Val)
|
rs189159117
|
0.00001
|
NM_000027.4(AGA):c.604C>T (p.Arg202Cys)
|
rs764539498
|
0.00001
|
NM_000027.4(AGA):c.649C>T (p.His217Tyr)
|
rs763070208
|
0.00001
|
NM_000027.4(AGA):c.657T>C (p.Ala219=)
|
rs886059261
|
0.00001
|
NM_000027.4(AGA):c.770C>T (p.Thr257Ile)
|
rs386833434
|
0.00001
|
NM_000027.4(AGA):c.776A>G (p.Asn259Ser)
|
rs1306999394
|
0.00001
|
NM_000027.4(AGA):c.785T>C (p.Ile262Thr)
|
rs772697272
|
0.00001
|
NM_000027.4(AGA):c.824A>G (p.Tyr275Cys)
|
rs1254844989
|
0.00001
|
NM_000027.4(AGA):c.92T>C (p.Val31Ala)
|
rs886059263
|
0.00001
|
NM_000027.4(AGA):c.940G>A (p.Gly314Ser)
|
rs149870867
|
0.00001
|
NM_000030.3(AGXT):c.*285G>A
|
rs567385270
|
0.00001
|
NM_000030.3(AGXT):c.*52C>G
|
rs547538869
|
0.00001
|
NM_000030.3(AGXT):c.1019T>C (p.Ile340Thr)
|
rs749568989
|
0.00001
|
NM_000030.3(AGXT):c.1174C>T (p.Leu392=)
|
rs180177167
|
0.00001
|
NM_000030.3(AGXT):c.172G>A (p.Asp58Asn)
|
rs774651961
|
0.00001
|
NM_000030.3(AGXT):c.286C>G (p.Pro96Ala)
|
rs1334695460
|
0.00001
|
NM_000030.3(AGXT):c.296C>A (p.Ser99Tyr)
|
rs180177192
|
0.00001
|
NM_000030.3(AGXT):c.40C>T (p.Leu14=)
|
rs2058975287
|
0.00001
|
NM_000030.3(AGXT):c.510G>A (p.Gly170=)
|
rs965707125
|
0.00001
|
NM_000030.3(AGXT):c.537G>C (p.Leu179=)
|
rs565927450
|
0.00001
|
NM_000030.3(AGXT):c.601G>A (p.Asp201Asn)
|
rs886055840
|
0.00001
|
NM_000030.3(AGXT):c.676G>A (p.Ala226Thr)
|
rs749577985
|
0.00001
|
NM_000030.3(AGXT):c.70C>A (p.Leu24Ile)
|
rs754037121
|
0.00001
|
NM_000030.3(AGXT):c.743C>T (p.Ala248Val)
|
rs372482918
|
0.00001
|
NM_000030.3(AGXT):c.846+5A>G
|
rs200916936
|
0.00001
|
NM_000030.3(AGXT):c.882C>T (p.Ala294=)
|
rs757494386
|
0.00001
|
NM_000030.3(AGXT):c.901C>T (p.Arg301Cys)
|
rs886055841
|
0.00001
|
NM_000030.3(AGXT):c.942G>A (p.Pro314=)
|
rs553429935
|
0.00001
|
NM_000035.4(ALDOB):c.136A>T (p.Arg46Trp)
|
rs41281039
|
0.00001
|
NM_000035.4(ALDOB):c.179G>A (p.Arg60Gln)
|
rs141267935
|
0.00001
|
NM_000035.4(ALDOB):c.187C>T (p.Leu63Phe)
|
rs780352710
|
0.00001
|
NM_000035.4(ALDOB):c.243C>T (p.His81=)
|
rs182003715
|
0.00001
|
NM_000035.4(ALDOB):c.270G>A (p.Gln90=)
|
rs1176960115
|
0.00001
|
NM_000035.4(ALDOB):c.309C>T (p.Ile103=)
|
rs747019279
|
0.00001
|
NM_000035.4(ALDOB):c.344C>T (p.Pro115Leu)
|
rs763058812
|
0.00001
|
NM_000035.4(ALDOB):c.523G>A (p.Ala175Thr)
|
rs755134927
|
0.00001
|
NM_000035.4(ALDOB):c.583G>A (p.Gly195Arg)
|
rs777601413
|
0.00001
|
NM_000035.4(ALDOB):c.640T>C (p.Tyr214His)
|
rs748157721
|
0.00001
|
NM_000035.4(ALDOB):c.698T>A (p.Met233Lys)
|
rs777324536
|
0.00001
|
NM_000035.4(ALDOB):c.94G>C (p.Ala32Pro)
|
rs1831207922
|
0.00001
|
NM_000035.4(ALDOB):c.956C>T (p.Ala319Val)
|
rs755508323
|
0.00001
|
NM_000046.3(ARSB):c.-1058A>G
|
rs886060802
|
0.00001
|
NM_000046.4(ARSB):c.-301G>A
|
rs886060799
|
0.00001
|
NM_000046.4(ARSB):c.-507T>C
|
rs886060800
|
0.00001
|
NM_000046.5(ARSB):c.*1169T>C
|
rs886060791
|
0.00001
|
NM_000046.5(ARSB):c.*2680C>T
|
rs1043901041
|
0.00001
|
NM_000046.5(ARSB):c.*2784C>A
|
rs1390008938
|
0.00001
|
NM_000046.5(ARSB):c.*2831T>A
|
rs1225906488
|
0.00001
|
NM_000046.5(ARSB):c.*3152A>G
|
rs886060779
|
0.00001
|
NM_000046.5(ARSB):c.1034G>A (p.Arg345Gln)
|
rs148067062
|
0.00001
|
NM_000046.5(ARSB):c.1195T>C (p.Phe399Leu)
|
rs762979755
|
0.00001
|
NM_000046.5(ARSB):c.1224C>T (p.Asn408=)
|
rs762454192
|
0.00001
|
NM_000046.5(ARSB):c.1232C>T (p.Ala411Val)
|
rs554258996
|
0.00001
|
NM_000046.5(ARSB):c.124A>G (p.Ser42Gly)
|
rs1250729156
|
0.00001
|
NM_000046.5(ARSB):c.1340G>C (p.Cys447Ser)
|
rs1465993279
|
0.00001
|
NM_000046.5(ARSB):c.1397A>G (p.Asp466Gly)
|
rs745885140
|
0.00001
|
NM_000046.5(ARSB):c.1435C>T (p.Arg479Trp)
|
rs758641798
|
0.00001
|
NM_000046.5(ARSB):c.1449A>T (p.Glu483Asp)
|
rs1064793027
|
0.00001
|
NM_000046.5(ARSB):c.1453C>G (p.His485Asp)
|
rs751829762
|
0.00001
|
NM_000046.5(ARSB):c.1468G>A (p.Glu490Lys)
|
rs1226339111
|
0.00001
|
NM_000046.5(ARSB):c.178G>A (p.Val60Ile)
|
rs1438070050
|
0.00001
|
NM_000046.5(ARSB):c.196C>T (p.Arg66Cys)
|
rs951682570
|
0.00001
|
NM_000046.5(ARSB):c.236G>A (p.Gly79Glu)
|
rs1271212818
|
0.00001
|
NM_000046.5(ARSB):c.247G>T (p.Asp83Tyr)
|
rs1247117898
|
0.00001
|
NM_000046.5(ARSB):c.275C>T (p.Thr92Met)
|
rs751010538
|
0.00001
|
NM_000046.5(ARSB):c.293T>C (p.Leu98Pro)
|
rs1554032090
|
0.00001
|
NM_000046.5(ARSB):c.312G>C (p.Gln104His)
|
rs1478202079
|
0.00001
|
NM_000046.5(ARSB):c.499G>A (p.Gly167Arg)
|
rs1554087999
|
0.00001
|
NM_000046.5(ARSB):c.539G>A (p.Arg180His)
|
rs139788949
|
0.00001
|
NM_000046.5(ARSB):c.572G>A (p.Arg191Gln)
|
rs760875018
|
0.00001
|
NM_000046.5(ARSB):c.617A>G (p.Tyr206Cys)
|
rs775204710
|
0.00001
|
NM_000046.5(ARSB):c.723G>A (p.Val241=)
|
rs199858121
|
0.00001
|
NM_000046.5(ARSB):c.74C>A (p.Pro25Gln)
|
rs576541936
|
0.00001
|
NM_000046.5(ARSB):c.784A>G (p.Asn262Asp)
|
rs1561524845
|
0.00001
|
NM_000046.5(ARSB):c.900T>A (p.Asp300Glu)
|
rs1280123243
|
0.00001
|
NM_000108.5(DLD):c.*1401G>T
|
rs1266926415
|
0.00001
|
NM_000108.5(DLD):c.*1724C>G
|
rs886061913
|
0.00001
|
NM_000108.5(DLD):c.*225C>T
|
rs553824101
|
0.00001
|
NM_000108.5(DLD):c.*394A>G
|
rs1246423607
|
0.00001
|
NM_000108.5(DLD):c.116C>T (p.Pro39Leu)
|
rs766396602
|
0.00001
|
NM_000108.5(DLD):c.117G>A (p.Pro39=)
|
rs751621846
|
0.00001
|
NM_000108.5(DLD):c.1228A>C (p.Lys410Gln)
|
rs886061907
|
0.00001
|
NM_000108.5(DLD):c.1266A>G (p.Pro422=)
|
rs766756785
|
0.00001
|
NM_000108.5(DLD):c.1333A>G (p.Lys445Glu)
|
rs1406495040
|
0.00001
|
NM_000108.5(DLD):c.1372C>G (p.Pro458Ala)
|
rs779723449
|
0.00001
|
NM_000108.5(DLD):c.1500T>C (p.Ala500=)
|
rs773097788
|
0.00001
|
NM_000108.5(DLD):c.199-7G>T
|
rs1358100638
|
0.00001
|
NM_000108.5(DLD):c.209T>C (p.Ile70Thr)
|
rs373761188
|
0.00001
|
NM_000108.5(DLD):c.236C>T (p.Thr79Ile)
|
rs1064795549
|
0.00001
|
NM_000108.5(DLD):c.375G>A (p.Glu125=)
|
rs559057715
|
0.00001
|
NM_000108.5(DLD):c.419A>G (p.His140Arg)
|
rs767210810
|
0.00001
|
NM_000108.5(DLD):c.65A>G (p.His22Arg)
|
rs914629774
|
0.00001
|
NM_000147.5(FUCA1):c.*527A>G
|
rs886046322
|
0.00001
|
NM_000147.5(FUCA1):c.1024A>G (p.Thr342Ala)
|
rs769788583
|
0.00001
|
NM_000147.5(FUCA1):c.1075G>A (p.Gly359Arg)
|
rs749269943
|
0.00001
|
NM_000147.5(FUCA1):c.1126C>T (p.Arg376Trp)
|
rs548735209
|
0.00001
|
NM_000147.5(FUCA1):c.1378A>G (p.Ile460Val)
|
rs774128532
|
0.00001
|
NM_000147.5(FUCA1):c.137C>G (p.Ser46Cys)
|
rs367641377
|
0.00001
|
NM_000147.5(FUCA1):c.193G>A (p.Gly65Ser)
|
rs763135982
|
0.00001
|
NM_000147.5(FUCA1):c.30G>C (p.Pro10=)
|
rs886046326
|
0.00001
|
NM_000147.5(FUCA1):c.350C>T (p.Pro117Leu)
|
rs777581303
|
0.00001
|
NM_000147.5(FUCA1):c.388A>G (p.Lys130Glu)
|
rs980153372
|
0.00001
|
NM_000147.5(FUCA1):c.445G>T (p.Val149Leu)
|
rs747625633
|
0.00001
|
NM_000147.5(FUCA1):c.472G>A (p.Val158Met)
|
rs550936524
|
0.00001
|
NM_000147.5(FUCA1):c.485G>A (p.Arg162Gln)
|
rs372045495
|
0.00001
|
NM_000147.5(FUCA1):c.518G>A (p.Arg173Gln)
|
rs148194937
|
0.00001
|
NM_000147.5(FUCA1):c.522G>T (p.Lys174Asn)
|
rs1352828947
|
0.00001
|
NM_000147.5(FUCA1):c.525-3A>G
|
rs766757100
|
0.00001
|
NM_000147.5(FUCA1):c.533G>A (p.Arg178His)
|
rs145537354
|
0.00001
|
NM_000147.5(FUCA1):c.658A>C (p.Asn220His)
|
rs755082816
|
0.00001
|
NM_000147.5(FUCA1):c.677T>G (p.Leu226Arg)
|
rs770733586
|
0.00001
|
NM_000147.5(FUCA1):c.919C>T (p.Arg307Cys)
|
rs773719849
|
0.00001
|
NM_000151.4(G6PC1):c.*1671C>T
|
rs568149292
|
0.00001
|
NM_000151.4(G6PC1):c.*211T>C
|
rs886052958
|
0.00001
|
NM_000151.4(G6PC1):c.*2134G>A
|
rs886052963
|
0.00001
|
NM_000151.4(G6PC1):c.*2847T>C
|
rs139115520
|
0.00001
|
NM_000151.4(G6PC1):c.*2981G>T
|
rs886052968
|
0.00001
|
NM_000151.4(G6PC1):c.1056G>A (p.Pro352=)
|
rs779263877
|
0.00001
|
NM_000151.4(G6PC1):c.109G>A (p.Ala37Thr)
|
rs781064575
|
0.00001
|
NM_000151.4(G6PC1):c.175A>G (p.Ile59Val)
|
rs774215572
|
0.00001
|
NM_000151.4(G6PC1):c.215A>G (p.Asn72Ser)
|
rs753502076
|
0.00001
|
NM_000151.4(G6PC1):c.231-12G>A
|
rs373908549
|
0.00001
|
NM_000151.4(G6PC1):c.231-3T>C
|
rs1233172989
|
0.00001
|
NM_000151.4(G6PC1):c.326G>A (p.Cys109Tyr)
|
rs886052955
|
0.00001
|
NM_000151.4(G6PC1):c.340+7G>A
|
rs570199529
|
0.00001
|
NM_000151.4(G6PC1):c.500G>A (p.Cys167Tyr)
|
rs777552825
|
0.00001
|
NM_000151.4(G6PC1):c.665G>C (p.Gly222Ala)
|
rs515726229
|
0.00001
|
NM_000151.4(G6PC1):c.830C>A (p.Ser277Tyr)
|
rs750048146
|
0.00001
|
NM_000151.4(G6PC1):c.879A>G (p.Pro293=)
|
rs529957748
|
0.00001
|
NM_000151.4(G6PC1):c.888C>G (p.Leu296=)
|
rs1266860369
|
0.00001
|
NM_000151.4(G6PC1):c.895A>G (p.Ile299Val)
|
rs1310542864
|
0.00001
|
NM_000151.4(G6PC1):c.961G>A (p.Val321Ile)
|
rs756241523
|
0.00001
|
NM_000152.5(GAA):c.*163G>T
|
rs761668638
|
0.00001
|
NM_000152.5(GAA):c.*66G>A
|
rs908570853
|
0.00001
|
NM_000152.5(GAA):c.-236C>T
|
rs886053541
|
0.00001
|
NM_000152.5(GAA):c.-32-3C>T
|
rs1055945806
|
0.00001
|
NM_000152.5(GAA):c.1012G>T (p.Asp338Tyr)
|
rs1334402365
|
0.00001
|
NM_000152.5(GAA):c.1047C>T (p.Ser349=)
|
rs138262940
|
0.00001
|
NM_000152.5(GAA):c.1059G>C (p.Gln353His)
|
rs376146090
|
0.00001
|
NM_000152.5(GAA):c.1075+4G>A
|
rs754290055
|
0.00001
|
NM_000152.5(GAA):c.1076-3C>T
|
rs1220435321
|
0.00001
|
NM_000152.5(GAA):c.109C>G (p.Leu37Val)
|
rs369775994
|
0.00001
|
NM_000152.5(GAA):c.1123C>T (p.Arg375Cys)
|
rs372486238
|
0.00001
|
NM_000152.5(GAA):c.1133A>G (p.Tyr378Cys)
|
rs963719602
|
0.00001
|
NM_000152.5(GAA):c.1171A>G (p.Met391Val)
|
rs778634337
|
0.00001
|
NM_000152.5(GAA):c.1184A>T (p.His395Leu)
|
rs775121651
|
0.00001
|
NM_000152.5(GAA):c.1192C>T (p.Leu398=)
|
rs369707231
|
0.00001
|
NM_000152.5(GAA):c.1195-8G>A
|
rs1194778188
|
0.00001
|
NM_000152.5(GAA):c.1229C>T (p.Ser410Phe)
|
rs777431563
|
0.00001
|
NM_000152.5(GAA):c.1231C>T (p.Arg411Trp)
|
rs772730706
|
0.00001
|
NM_000152.5(GAA):c.1274C>T (p.Pro425Leu)
|
rs765235868
|
0.00001
|
NM_000152.5(GAA):c.1298A>G (p.Gln433Arg)
|
rs201463496
|
0.00001
|
NM_000152.5(GAA):c.1306C>T (p.Arg436Trp)
|
rs777372252
|
0.00001
|
NM_000152.5(GAA):c.1319T>C (p.Met440Thr)
|
rs768847441
|
0.00001
|
NM_000152.5(GAA):c.1324G>A (p.Val442Met)
|
rs377559348
|
0.00001
|
NM_000152.5(GAA):c.1326+20G>A
|
rs774138443
|
0.00001
|
NM_000152.5(GAA):c.1347G>A (p.Ser449=)
|
rs756938942
|
0.00001
|
NM_000152.5(GAA):c.1361G>A (p.Ser454Asn)
|
rs2039191738
|
0.00001
|
NM_000152.5(GAA):c.1402A>T (p.Ile468Phe)
|
rs886043148
|
0.00001
|
NM_000152.5(GAA):c.1406C>T (p.Thr469Ile)
|
rs768500880
|
0.00001
|
NM_000152.5(GAA):c.1410C>T (p.Asn470=)
|
rs886043068
|
0.00001
|
NM_000152.5(GAA):c.1438G>A (p.Val480Ile)
|
rs769574574
|
0.00001
|
NM_000152.5(GAA):c.1448G>T (p.Gly483Val)
|
rs2039213206
|
0.00001
|
NM_000152.5(GAA):c.1514A>C (p.Glu505Ala)
|
rs1418481698
|
0.00001
|
NM_000152.5(GAA):c.151G>A (p.Glu51Lys)
|
rs2039030436
|
0.00001
|
NM_000152.5(GAA):c.1537G>A (p.Asp513Asn)
|
rs748047271
|
0.00001
|
NM_000152.5(GAA):c.1594G>A (p.Gly532Ser)
|
rs773576381
|
0.00001
|
NM_000152.5(GAA):c.1607A>G (p.Asn536Ser)
|
rs368568190
|
0.00001
|
NM_000152.5(GAA):c.1626C>G (p.Pro542=)
|
rs947585663
|
0.00001
|
NM_000152.5(GAA):c.1643T>C (p.Val548Ala)
|
rs754686630
|
0.00001
|
NM_000152.5(GAA):c.1660G>C (p.Ala554Pro)
|
rs1283351706
|
0.00001
|
NM_000152.5(GAA):c.1669A>G (p.Ile557Val)
|
rs747150965
|
0.00001
|
NM_000152.5(GAA):c.1755-3C>T
|
rs748327755
|
0.00001
|
NM_000152.5(GAA):c.1757C>T (p.Ala586Val)
|
rs770021831
|
0.00001
|
NM_000152.5(GAA):c.1771C>T (p.Arg591Trp)
|
rs770983413
|
0.00001
|
NM_000152.5(GAA):c.1772G>A (p.Arg591Gln)
|
rs528010457
|
0.00001
|
NM_000152.5(GAA):c.1774G>A (p.Gly592Arg)
|
rs1387345310
|
0.00001
|
NM_000152.5(GAA):c.1796C>A (p.Ser599Tyr)
|
rs753505203
|
0.00001
|
NM_000152.5(GAA):c.1827C>T (p.Tyr609=)
|
rs745754277
|
0.00001
|
NM_000152.5(GAA):c.1842G>A (p.Thr614=)
|
rs373955374
|
0.00001
|
NM_000152.5(GAA):c.1871T>C (p.Leu624Pro)
|
rs2039267331
|
0.00001
|
NM_000152.5(GAA):c.1876T>G (p.Ser626Ala)
|
rs1235035841
|
0.00001
|
NM_000152.5(GAA):c.1886C>T (p.Pro629Leu)
|
rs746961289
|
0.00001
|
NM_000152.5(GAA):c.1889-7C>G
|
rs765713320
|
0.00001
|
NM_000152.5(GAA):c.1958C>A (p.Thr653Asn)
|
rs763456921
|
0.00001
|
NM_000152.5(GAA):c.1989G>T (p.Gln663His)
|
rs1189531783
|
0.00001
|
NM_000152.5(GAA):c.1996G>T (p.Ala666Ser)
|
rs916566117
|
0.00001
|
NM_000152.5(GAA):c.2005C>A (p.Pro669Thr)
|
rs752507985
|
0.00001
|
NM_000152.5(GAA):c.2012T>C (p.Met671Thr)
|
rs398123170
|
0.00001
|
NM_000152.5(GAA):c.2050C>T (p.Pro684Ser)
|
rs776486462
|
0.00001
|
NM_000152.5(GAA):c.206A>G (p.Gln69Arg)
|
rs767191385
|
0.00001
|
NM_000152.5(GAA):c.2078A>G (p.Gln693Arg)
|
rs779338215
|
0.00001
|
NM_000152.5(GAA):c.2137T>C (p.Phe713Leu)
|
rs755618776
|
0.00001
|
NM_000152.5(GAA):c.214C>A (p.Pro72Thr)
|
rs923068950
|
0.00001
|
NM_000152.5(GAA):c.2174G>A (p.Arg725Gln)
|
rs577042191
|
0.00001
|
NM_000152.5(GAA):c.2179C>T (p.Leu727Phe)
|
rs1290010789
|
0.00001
|
NM_000152.5(GAA):c.217G>A (p.Gly73Ser)
|
rs760644219
|
0.00001
|
NM_000152.5(GAA):c.2182T>C (p.Phe728Leu)
|
rs1232306443
|
0.00001
|
NM_000152.5(GAA):c.2198A>G (p.Lys733Arg)
|
rs763612880
|
0.00001
|
NM_000152.5(GAA):c.2218G>T (p.Val740Leu)
|
rs752122499
|
0.00001
|
NM_000152.5(GAA):c.221G>A (p.Arg74His)
|
rs764797280
|
0.00001
|
NM_000152.5(GAA):c.2221G>A (p.Asp741Asn)
|
rs755272974
|
0.00001
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
NM_000152.5(GAA):c.2284G>A (p.Glu762Lys)
|
rs760063214
|
0.00001
|
NM_000152.5(GAA):c.2401G>A (p.Glu801Lys)
|
rs201980859
|
0.00001
|
NM_000152.5(GAA):c.2427C>G (p.Ala809=)
|
rs766325117
|
0.00001
|
NM_000152.5(GAA):c.2459C>T (p.Ala820Val)
|
rs786204304
|
0.00001
|
NM_000152.5(GAA):c.247G>A (p.Asp83Asn)
|
rs771101156
|
0.00001
|
NM_000152.5(GAA):c.2509C>T (p.Arg837Cys)
|
rs752421149
|
0.00001
|
NM_000152.5(GAA):c.2521A>G (p.Met841Val)
|
rs1184116513
|
0.00001
|
NM_000152.5(GAA):c.2536G>A (p.Ala846Thr)
|
rs1464282302
|
0.00001
|
NM_000152.5(GAA):c.2598A>C (p.Glu866Asp)
|
rs1445358978
|
0.00001
|
NM_000152.5(GAA):c.260A>G (p.Asn87Ser)
|
rs117530672
|
0.00001
|
NM_000152.5(GAA):c.2641A>G (p.Arg881Gly)
|
rs769578772
|
0.00001
|
NM_000152.5(GAA):c.2651C>T (p.Thr884Met)
|
rs759144318
|
0.00001
|
NM_000152.5(GAA):c.265C>T (p.Arg89Cys)
|
rs534192892
|
0.00001
|
NM_000152.5(GAA):c.2712G>A (p.Val904=)
|
rs886043848
|
0.00001
|
NM_000152.5(GAA):c.2735C>T (p.Ala912Val)
|
rs778874712
|
0.00001
|
NM_000152.5(GAA):c.2783A>G (p.Tyr928Cys)
|
rs1403885484
|
0.00001
|
NM_000152.5(GAA):c.2803C>T (p.Leu935=)
|
rs746826091
|
0.00001
|
NM_000152.5(GAA):c.2819C>T (p.Ser940Leu)
|
rs1343332597
|
0.00001
|
NM_000152.5(GAA):c.2833G>C (p.Glu945Gln)
|
rs1034101189
|
0.00001
|
NM_000152.5(GAA):c.2845G>A (p.Val949Ile)
|
rs183458422
|
0.00001
|
NM_000152.5(GAA):c.2846T>A (p.Val949Asp)
|
rs1245412108
|
0.00001
|
NM_000152.5(GAA):c.286A>G (p.Lys96Glu)
|
rs778816809
|
0.00001
|
NM_000152.5(GAA):c.298C>A (p.Gln100Lys)
|
rs780027584
|
0.00001
|
NM_000152.5(GAA):c.314C>T (p.Ala105Val)
|
rs761409404
|
0.00001
|
NM_000152.5(GAA):c.316C>T (p.Arg106Cys)
|
rs915675670
|
0.00001
|
NM_000152.5(GAA):c.328T>C (p.Tyr110His)
|
rs761311330
|
0.00001
|
NM_000152.5(GAA):c.347G>T (p.Gly116Val)
|
rs754285414
|
0.00001
|
NM_000152.5(GAA):c.364A>G (p.Met122Val)
|
rs2039040448
|
0.00001
|
NM_000152.5(GAA):c.36C>T (p.Leu12=)
|
rs200548806
|
0.00001
|
NM_000152.5(GAA):c.395G>C (p.Ser132Thr)
|
rs772908626
|
0.00001
|
NM_000152.5(GAA):c.425G>A (p.Ser142Asn)
|
rs754195673
|
0.00001
|
NM_000152.5(GAA):c.435A>T (p.Glu145Asp)
|
rs765586839
|
0.00001
|
NM_000152.5(GAA):c.444C>T (p.Tyr148=)
|
rs886043112
|
0.00001
|
NM_000152.5(GAA):c.461G>A (p.Arg154His)
|
rs781124934
|
0.00001
|
NM_000152.5(GAA):c.472A>G (p.Thr158Ala)
|
rs1598570556
|
0.00001
|
NM_000152.5(GAA):c.488A>T (p.Asp163Val)
|
rs755903462
|
0.00001
|
NM_000152.5(GAA):c.49G>A (p.Ala17Thr)
|
rs751425831
|
0.00001
|
NM_000152.5(GAA):c.503G>T (p.Arg168Leu)
|
rs376685205
|
0.00001
|
NM_000152.5(GAA):c.511G>A (p.Val171Met)
|
rs886053543
|
0.00001
|
NM_000152.5(GAA):c.514A>G (p.Met172Val)
|
rs1307823755
|
0.00001
|
NM_000152.5(GAA):c.530A>C (p.Asn177Thr)
|
rs936395356
|
0.00001
|
NM_000152.5(GAA):c.532C>T (p.Arg178Cys)
|
rs762439362
|
0.00001
|
NM_000152.5(GAA):c.539A>G (p.His180Arg)
|
rs773474041
|
0.00001
|
NM_000152.5(GAA):c.549C>G (p.Ile183Met)
|
rs778132082
|
0.00001
|
NM_000152.5(GAA):c.560C>G (p.Ala187Gly)
|
rs749876645
|
0.00001
|
NM_000152.5(GAA):c.574G>A (p.Glu192Lys)
|
rs1407372901
|
0.00001
|
NM_000152.5(GAA):c.576G>C (p.Glu192Asp)
|
rs760655446
|
0.00001
|
NM_000152.5(GAA):c.607C>T (p.Arg203Trp)
|
rs751286274
|
0.00001
|
NM_000152.5(GAA):c.608G>A (p.Arg203Gln)
|
rs754446365
|
0.00001
|
NM_000152.5(GAA):c.625T>C (p.Tyr209His)
|
rs930808379
|
0.00001
|
NM_000152.5(GAA):c.630C>T (p.Ser210=)
|
rs775568949
|
0.00001
|
NM_000152.5(GAA):c.631G>A (p.Val211Met)
|
rs760995790
|
0.00001
|
NM_000152.5(GAA):c.634G>A (p.Glu212Lys)
|
rs768596085
|
0.00001
|
NM_000152.5(GAA):c.683G>A (p.Gly228Asp)
|
rs1470881018
|
0.00001
|
NM_000152.5(GAA):c.701C>T (p.Thr234Met)
|
rs752054011
|
0.00001
|
NM_000152.5(GAA):c.702G>A (p.Thr234=)
|
rs755337511
|
0.00001
|
NM_000152.5(GAA):c.704C>T (p.Thr235Met)
|
rs752950890
|
0.00001
|
NM_000152.5(GAA):c.706G>T (p.Val236Leu)
|
rs777964427
|
0.00001
|
NM_000152.5(GAA):c.70G>A (p.Ala24Thr)
|
rs139716763
|
0.00001
|
NM_000152.5(GAA):c.723T>G (p.Phe241Leu)
|
rs1160112655
|
0.00001
|
NM_000152.5(GAA):c.745T>C (p.Ser249Pro)
|
rs1386718298
|
0.00001
|
NM_000152.5(GAA):c.74C>T (p.Ala25Val)
|
rs768867363
|
0.00001
|
NM_000152.5(GAA):c.758C>G (p.Pro253Arg)
|
rs1169157671
|
0.00001
|
NM_000152.5(GAA):c.764A>G (p.Gln255Arg)
|
rs1405975877
|
0.00001
|
NM_000152.5(GAA):c.795T>A (p.Ser265Arg)
|
rs779785396
|
0.00001
|
NM_000152.5(GAA):c.804G>A (p.Met268Ile)
|
rs1185610552
|
0.00001
|
NM_000152.5(GAA):c.842G>A (p.Arg281Gln)
|
rs772607616
|
0.00001
|
NM_000152.5(GAA):c.863G>A (p.Gly288Asp)
|
rs769074720
|
0.00001
|
NM_000152.5(GAA):c.900G>A (p.Ala300=)
|
rs759425304
|
0.00001
|
NM_000152.5(GAA):c.906G>A (p.Glu302=)
|
rs1488323868
|
0.00001
|
NM_000152.5(GAA):c.910G>A (p.Gly304Ser)
|
rs140301384
|
0.00001
|
NM_000152.5(GAA):c.918G>A (p.Ser306=)
|
rs373276219
|
0.00001
|
NM_000152.5(GAA):c.955+5G>C
|
rs759508507
|
0.00001
|
NM_000152.5(GAA):c.969G>T (p.Gln323His)
|
rs1266693289
|
0.00001
|
NM_000152.5(GAA):c.993G>A (p.Arg331=)
|
rs749831587
|
0.00001
|
NM_000152.5(GAA):c.995C>T (p.Ser332Leu)
|
rs757608620
|
0.00001
|
NM_000154.2(GALK1):c.104C>T (p.Pro35Leu)
|
rs766223704
|
0.00001
|
NM_000154.2(GALK1):c.1057G>A (p.Val353Met)
|
rs749948423
|
0.00001
|
NM_000154.2(GALK1):c.106G>C (p.Gly36Arg)
|
rs1214866139
|
0.00001
|
NM_000154.2(GALK1):c.1097G>A (p.Arg366Gln)
|
rs538714933
|
0.00001
|
NM_000154.2(GALK1):c.1117G>A (p.Gly373Ser)
|
rs773416475
|
0.00001
|
NM_000154.2(GALK1):c.1120G>A (p.Gly374Arg)
|
rs201811960
|
0.00001
|
NM_000154.2(GALK1):c.1175T>C (p.Leu392Ser)
|
rs371755069
|
0.00001
|
NM_000154.2(GALK1):c.202C>T (p.Arg68Cys)
|
rs1365349586
|
0.00001
|
NM_000154.2(GALK1):c.203G>T (p.Arg68Leu)
|
rs754230597
|
0.00001
|
NM_000154.2(GALK1):c.260G>A (p.Arg87Gln)
|
rs572575400
|
0.00001
|
NM_000154.2(GALK1):c.321C>T (p.Ala107=)
|
rs771880802
|
0.00001
|
NM_000154.2(GALK1):c.485C>G (p.Thr162Arg)
|
rs555279924
|
0.00001
|
NM_000154.2(GALK1):c.520G>A (p.Glu174Lys)
|
rs1363497653
|
0.00001
|
NM_000154.2(GALK1):c.587G>A (p.Gly196Asp)
|
rs771717336
|
0.00001
|
NM_000154.2(GALK1):c.716G>A (p.Arg239Gln)
|
rs575139300
|
0.00001
|
NM_000154.2(GALK1):c.786G>A (p.Glu262=)
|
rs756263074
|
0.00001
|
NM_000154.2(GALK1):c.814A>G (p.Lys272Glu)
|
rs558638718
|
0.00001
|
NM_000154.2(GALK1):c.821G>A (p.Gly274Asp)
|
rs959842362
|
0.00001
|
NM_000154.2(GALK1):c.841G>A (p.Val281Met)
|
rs753571180
|
0.00001
|
NM_000154.2(GALK1):c.919_921del (p.Met307del)
|
rs1247635972
|
0.00001
|
NM_000154.2(GALK1):c.995C>T (p.Ala332Val)
|
rs886053419
|
0.00001
|
NM_000155.4(GALT):c.1018G>A (p.Glu340Lys)
|
rs111033806
|
0.00001
|
NM_000155.4(GALT):c.1034C>A (p.Ala345Asp)
|
rs111033815
|
0.00001
|
NM_000155.4(GALT):c.253-6C>T
|
rs753450355
|
0.00001
|
NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)
|
rs111033666
|
0.00001
|
NM_000155.4(GALT):c.328+7T>C
|
rs774350978
|
0.00001
|
NM_000155.4(GALT):c.377+2dup
|
rs763662108
|
0.00001
|
NM_000155.4(GALT):c.378-7C>T
|
rs751084584
|
0.00001
|
NM_000155.4(GALT):c.469G>A (p.Val157Ile)
|
rs1173928130
|
0.00001
|
NM_000155.4(GALT):c.496C>G (p.Pro166Ala)
|
rs367543257
|
0.00001
|
NM_000155.4(GALT):c.590A>G (p.Asp197Gly)
|
rs1554709359
|
0.00001
|
NM_000155.4(GALT):c.607G>A (p.Glu203Lys)
|
rs111033736
|
0.00001
|
NM_000155.4(GALT):c.628A>G (p.Lys210Glu)
|
rs896091797
|
0.00001
|
NM_000155.4(GALT):c.772C>T (p.Arg258Cys)
|
rs368166217
|
0.00001
|
NM_000155.4(GALT):c.773G>A (p.Arg258His)
|
rs773766027
|
0.00001
|
NM_000155.4(GALT):c.787C>T (p.Arg263Trp)
|
rs1448701207
|
0.00001
|
NM_000155.4(GALT):c.788G>A (p.Arg263Gln)
|
rs777023967
|
0.00001
|
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)
|
rs111033766
|
0.00001
|
NM_000155.4(GALT):c.820+4A>C
|
rs398123186
|
0.00001
|
NM_000155.4(GALT):c.843G>A (p.Lys281=)
|
rs368298966
|
0.00001
|
NM_000155.4(GALT):c.851C>A (p.Thr284Asn)
|
rs753364304
|
0.00001
|
NM_000155.4(GALT):c.875C>T (p.Thr292Met)
|
rs369227288
|
0.00001
|
NM_000155.4(GALT):c.883C>A (p.Pro295Thr)
|
rs111033783
|
0.00001
|
NM_000155.4(GALT):c.961C>T (p.His321Tyr)
|
rs367543266
|
0.00001
|
NM_000158.4(GBE1):c.*545G>C
|
rs548648836
|
0.00001
|
NM_000158.4(GBE1):c.-6C>G
|
rs1197683058
|
0.00001
|
NM_000158.4(GBE1):c.1063C>T (p.Arg355Cys)
|
rs780431086
|
0.00001
|
NM_000158.4(GBE1):c.1205C>T (p.Thr402Met)
|
rs751619568
|
0.00001
|
NM_000158.4(GBE1):c.1213C>T (p.Pro405Ser)
|
rs1703871141
|
0.00001
|
NM_000158.4(GBE1):c.1229T>G (p.Ile410Arg)
|
rs771405370
|
0.00001
|
NM_000158.4(GBE1):c.1335+9C>G
|
rs754084067
|
0.00001
|
NM_000158.4(GBE1):c.1444C>G (p.Gln482Glu)
|
rs758786811
|
0.00001
|
NM_000158.4(GBE1):c.1581G>A (p.Thr527=)
|
rs140571802
|
0.00001
|
NM_000158.4(GBE1):c.1604A>G (p.Tyr535Cys)
|
rs886058900
|
0.00001
|
NM_000158.4(GBE1):c.1618+4A>G
|
rs763962659
|
0.00001
|
NM_000158.4(GBE1):c.1647A>C (p.Leu549Phe)
|
rs544404712
|
0.00001
|
NM_000158.4(GBE1):c.1655C>T (p.Pro552Leu)
|
rs777589783
|
0.00001
|
NM_000158.4(GBE1):c.1693C>T (p.Arg565Trp)
|
rs552094593
|
0.00001
|
NM_000158.4(GBE1):c.1694G>A (p.Arg565Gln)
|
rs774619760
|
0.00001
|
NM_000158.4(GBE1):c.169A>G (p.Lys57Glu)
|
rs772910188
|
0.00001
|
NM_000158.4(GBE1):c.1714G>A (p.Asp572Asn)
|
rs775980435
|
0.00001
|
NM_000158.4(GBE1):c.1810G>A (p.Val604Met)
|
rs760015364
|
0.00001
|
NM_000158.4(GBE1):c.1874T>G (p.Phe625Cys)
|
rs769567764
|
0.00001
|
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)
|
rs137852891
|
0.00001
|
NM_000158.4(GBE1):c.200A>G (p.Asp67Gly)
|
rs368256869
|
0.00001
|
NM_000158.4(GBE1):c.2016G>A (p.Glu672=)
|
rs571448518
|
0.00001
|
NM_000158.4(GBE1):c.203A>T (p.Lys68Met)
|
rs779371387
|
0.00001
|
NM_000158.4(GBE1):c.2080A>G (p.Ile694Val)
|
rs1257283055
|
0.00001
|
NM_000158.4(GBE1):c.2081T>A (p.Ile694Asn)
|
rs1209123501
|
0.00001
|
NM_000158.4(GBE1):c.2093T>C (p.Val698Ala)
|
rs1195429833
|
0.00001
|
NM_000158.4(GBE1):c.2107T>G (p.Ter703Gly)
|
rs1400238963
|
0.00001
|
NM_000158.4(GBE1):c.213A>C (p.Arg71Ser)
|
rs755590449
|
0.00001
|
NM_000158.4(GBE1):c.287A>G (p.Glu96Gly)
|
rs1705760375
|
0.00001
|
NM_000158.4(GBE1):c.466C>T (p.Arg156Cys)
|
rs763302311
|
0.00001
|
NM_000158.4(GBE1):c.488A>G (p.Tyr163Cys)
|
rs771447249
|
0.00001
|
NM_000158.4(GBE1):c.548C>T (p.Ser183Leu)
|
rs1327623597
|
0.00001
|
NM_000158.4(GBE1):c.692-6A>G
|
rs757655010
|
0.00001
|
NM_000158.4(GBE1):c.721A>G (p.Met241Val)
|
rs747155575
|
0.00001
|
NM_000158.4(GBE1):c.784C>T (p.Arg262Cys)
|
rs137852893
|
0.00001
|
NM_000158.4(GBE1):c.88A>G (p.Arg30Gly)
|
rs1236771685
|
0.00001
|
NM_000158.4(GBE1):c.955C>T (p.His319Tyr)
|
rs767100121
|
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.35A>G (p.Lys12Arg)
|
rs777958777
|
0.00001
|
NM_000162.5(GCK):c.415A>T (p.Met139Leu)
|
rs368137186
|
0.00001
|
NM_000162.5(GCK):c.580-11C>T
|
rs370016334
|
0.00001
|
NM_000162.5(GCK):c.716A>G (p.Gln239Arg)
|
rs764146649
|
0.00001
|
NM_000162.5(GCK):c.951C>G (p.His317Gln)
|
rs1379908545
|
0.00001
|
NM_000175.5(GPI):c.1498G>A (p.Val500Ile)
|
rs552424309
|
0.00001
|
NM_000175.5(GPI):c.1618G>A (p.Ala540Thr)
|
rs547475819
|
0.00001
|
NM_000175.5(GPI):c.572A>G (p.His191Arg)
|
rs758281551
|
0.00001
|
NM_000175.5(GPI):c.640A>G (p.Thr214Ala)
|
rs536683131
|
0.00001
|
NM_000175.5(GPI):c.880G>A (p.Glu294Lys)
|
rs560277140
|
0.00001
|
NM_000181.4(GUSB):c.-19G>C
|
rs771999951
|
0.00001
|
NM_000181.4(GUSB):c.1050G>A (p.Lys350=)
|
rs121918182
|
0.00001
|
NM_000181.4(GUSB):c.1061C>T (p.Ala354Val)
|
rs121918175
|
0.00001
|
NM_000181.4(GUSB):c.1065+4T>C
|
rs778151820
|
0.00001
|
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)
|
rs398123234
|
0.00001
|
NM_000181.4(GUSB):c.1091C>T (p.Pro364Leu)
|
rs771629102
|
0.00001
|
NM_000181.4(GUSB):c.1222C>T (p.Pro408Ser)
|
rs779091113
|
0.00001
|
NM_000181.4(GUSB):c.1245-4G>A
|
rs548368848
|
0.00001
|
NM_000181.4(GUSB):c.1325C>T (p.Ala442Val)
|
rs763845326
|
0.00001
|
NM_000181.4(GUSB):c.170G>T (p.Arg57Leu)
|
rs769252159
|
0.00001
|
NM_000181.4(GUSB):c.1741G>A (p.Val581Met)
|
rs150304382
|
0.00001
|
NM_000181.4(GUSB):c.1747G>A (p.Gly583Arg)
|
rs757015172
|
0.00001
|
NM_000181.4(GUSB):c.1816A>G (p.Lys606Glu)
|
rs1325465494
|
0.00001
|
NM_000181.4(GUSB):c.1887T>G (p.Ile629Met)
|
rs756035101
|
0.00001
|
NM_000181.4(GUSB):c.196C>T (p.Arg66Trp)
|
rs776085845
|
0.00001
|
NM_000181.4(GUSB):c.200C>T (p.Pro67Leu)
|
rs948834547
|
0.00001
|
NM_000181.4(GUSB):c.210+11G>C
|
rs886062403
|
0.00001
|
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp)
|
rs786205673
|
0.00001
|
NM_000181.4(GUSB):c.352A>G (p.Arg118Gly)
|
rs767239546
|
0.00001
|
NM_000181.4(GUSB):c.394G>A (p.Val132Met)
|
rs769151272
|
0.00001
|
NM_000181.4(GUSB):c.493C>T (p.Arg165Trp)
|
rs771137253
|
0.00001
|
NM_000181.4(GUSB):c.613T>C (p.Tyr205His)
|
rs367989163
|
0.00001
|
NM_000181.4(GUSB):c.658C>G (p.Leu220Val)
|
rs760324067
|
0.00001
|
NM_000181.4(GUSB):c.760A>C (p.Asn254His)
|
rs150086524
|
0.00001
|
NM_000181.4(GUSB):c.7C>T (p.Arg3Trp)
|
rs750955623
|
0.00001
|
NM_000181.4(GUSB):c.955T>C (p.Phe319Leu)
|
rs757549474
|
0.00001
|
NM_000181.4(GUSB):c.959A>C (p.Tyr320Ser)
|
rs886044680
|
0.00001
|
NM_000181.4(GUSB):c.988G>T (p.Ala330Ser)
|
rs561880652
|
0.00001
|
NM_000188.3(HK1):c.1720-3C>T
|
rs1256697528
|
0.00001
|
NM_000188.3(HK1):c.2165G>A (p.Arg722Lys)
|
rs1172702857
|
0.00001
|
NM_000188.3(HK1):c.2519C>T (p.Ala840Val)
|
rs373871387
|
0.00001
|
NM_000199.5(SGSH):c.*1098G>A
|
rs886053551
|
0.00001
|
NM_000199.5(SGSH):c.*369C>T
|
rs886053557
|
0.00001
|
NM_000199.5(SGSH):c.*506C>T
|
rs1011435930
|
0.00001
|
NM_000199.5(SGSH):c.*994G>A
|
rs929179426
|
0.00001
|
NM_000199.5(SGSH):c.1035C>T (p.Gly345=)
|
rs748069998
|
0.00001
|
NM_000199.5(SGSH):c.1037G>A (p.Arg346Gln)
|
rs367883023
|
0.00001
|
NM_000199.5(SGSH):c.1052C>T (p.Ala351Val)
|
rs139075692
|
0.00001
|
NM_000199.5(SGSH):c.1108G>A (p.Val370Ile)
|
rs201061563
|
0.00001
|
NM_000199.5(SGSH):c.1145G>A (p.Arg382Gln)
|
rs779661554
|
0.00001
|
NM_000199.5(SGSH):c.1147C>A (p.His383Asn)
|
rs922205597
|
0.00001
|
NM_000199.5(SGSH):c.1154G>A (p.Arg385His)
|
rs944844493
|
0.00001
|
NM_000199.5(SGSH):c.115G>A (p.Ala39Thr)
|
rs773137508
|
0.00001
|
NM_000199.5(SGSH):c.1190C>T (p.Pro397Leu)
|
rs772080776
|
0.00001
|
NM_000199.5(SGSH):c.1229A>G (p.Asp410Gly)
|
rs748612821
|
0.00001
|
NM_000199.5(SGSH):c.122A>G (p.Asn41Ser)
|
rs2041923714
|
0.00001
|
NM_000199.5(SGSH):c.1240C>T (p.Arg414Cys)
|
rs1354462020
|
0.00001
|
NM_000199.5(SGSH):c.1244C>G (p.Thr415Ser)
|
rs778602791
|
0.00001
|
NM_000199.5(SGSH):c.1262C>T (p.Thr421Met)
|
rs767649680
|
0.00001
|
NM_000199.5(SGSH):c.1270T>C (p.Tyr424His)
|
rs766657191
|
0.00001
|
NM_000199.5(SGSH):c.1304G>A (p.Arg435His)
|
rs370528435
|
0.00001
|
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)
|
rs1057521146
|
0.00001
|
NM_000199.5(SGSH):c.1393C>T (p.Arg465Trp)
|
rs754273400
|
0.00001
|
NM_000199.5(SGSH):c.1419G>C (p.Trp473Cys)
|
rs1453217230
|
0.00001
|
NM_000199.5(SGSH):c.1444G>A (p.Ala482Thr)
|
rs780969693
|
0.00001
|
NM_000199.5(SGSH):c.1445C>T (p.Ala482Val)
|
rs376296818
|
0.00001
|
NM_000199.5(SGSH):c.1453G>A (p.Gly485Ser)
|
rs779083605
|
0.00001
|
NM_000199.5(SGSH):c.1455C>T (p.Gly485=)
|
rs757563981
|
0.00001
|
NM_000199.5(SGSH):c.223G>A (p.Ala75Thr)
|
rs137953179
|
0.00001
|
NM_000199.5(SGSH):c.258T>C (p.Asn86=)
|
rs1425717342
|
0.00001
|
NM_000199.5(SGSH):c.292T>C (p.Phe98Leu)
|
rs777669364
|
0.00001
|
NM_000199.5(SGSH):c.297C>G (p.Asn99Lys)
|
rs755846091
|
0.00001
|
NM_000199.5(SGSH):c.309G>A (p.Lys103=)
|
rs751641089
|
0.00001
|
NM_000199.5(SGSH):c.355+9C>T
|
rs746912493
|
0.00001
|
NM_000199.5(SGSH):c.356-6G>A
|
rs764808311
|
0.00001
|
NM_000199.5(SGSH):c.416C>T (p.Thr139Met)
|
rs775112689
|
0.00001
|
NM_000199.5(SGSH):c.440A>G (p.Gln147Arg)
|
rs1408975480
|
0.00001
|
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)
|
rs1479831530
|
0.00001
|
NM_000199.5(SGSH):c.468G>T (p.Lys156Asn)
|
rs780700374
|
0.00001
|
NM_000199.5(SGSH):c.503A>C (p.Asp168Ala)
|
rs774333201
|
0.00001
|
NM_000199.5(SGSH):c.506+4T>A
|
rs1378763987
|
0.00001
|
NM_000199.5(SGSH):c.523G>A (p.Val175Ile)
|
rs753921560
|
0.00001
|
NM_000199.5(SGSH):c.548G>A (p.Cys183Tyr)
|
rs1329133410
|
0.00001
|
NM_000199.5(SGSH):c.681C>A (p.Pro227=)
|
rs2041774244
|
0.00001
|
NM_000199.5(SGSH):c.688C>T (p.Pro230Ser)
|
rs756437160
|
0.00001
|
NM_000199.5(SGSH):c.75A>C (p.Ala25=)
|
rs1262969566
|
0.00001
|
NM_000199.5(SGSH):c.773G>A (p.Arg258His)
|
rs549606472
|
0.00001
|
NM_000199.5(SGSH):c.798A>G (p.Thr266=)
|
rs199562202
|
0.00001
|
NM_000199.5(SGSH):c.813G>A (p.Thr271=)
|
rs779676466
|
0.00001
|
NM_000199.5(SGSH):c.817G>A (p.Asp273Asn)
|
rs1046551417
|
0.00001
|
NM_000199.5(SGSH):c.88+8C>T
|
rs75720127
|
0.00001
|
NM_000199.5(SGSH):c.886G>T (p.Val296Leu)
|
rs1189287474
|
0.00001
|
NM_000199.5(SGSH):c.896C>T (p.Pro299Leu)
|
rs776306411
|
0.00001
|
NM_000199.5(SGSH):c.911G>T (p.Arg304Leu)
|
rs745884647
|
0.00001
|
NM_000199.5(SGSH):c.937G>T (p.Val313Leu)
|
rs769385447
|
0.00001
|
NM_000199.5(SGSH):c.93T>C (p.Asp31=)
|
rs982161788
|
0.00001
|
NM_000199.5(SGSH):c.942C>T (p.Ser314=)
|
rs759810426
|
0.00001
|
NM_000199.5(SGSH):c.97G>A (p.Gly33Arg)
|
rs398123246
|
0.00001
|
NM_000199.5(SGSH):c.98G>A (p.Gly33Glu)
|
rs762732038
|
0.00001
|
NM_000199.5(SGSH):c.997T>C (p.Tyr333His)
|
rs924984538
|
0.00001
|
NM_000202.8(IDS):c.1046G>A (p.Ser349Asn)
|
rs138918423
|
0.00001
|
NM_000202.8(IDS):c.1123G>A (p.Glu375Lys)
|
rs782634993
|
0.00001
|
NM_000202.8(IDS):c.1184G>C (p.Arg395Thr)
|
rs782475200
|
0.00001
|
NM_000202.8(IDS):c.1483A>G (p.Ile495Val)
|
rs782228221
|
0.00001
|
NM_000202.8(IDS):c.289C>A (p.Pro97Thr)
|
rs1557340273
|
0.00001
|
NM_000202.8(IDS):c.352A>T (p.Thr118Ser)
|
rs2089496220
|
0.00001
|
NM_000202.8(IDS):c.785T>A (p.Val262Glu)
|
rs782053689
|
0.00001
|
NM_000203.5(IDUA):c.1051G>A (p.Ala351Thr)
|
rs772855552
|
0.00001
|
NM_000203.5(IDUA):c.1070C>T (p.Pro357Leu)
|
rs918621189
|
0.00001
|
NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys)
|
rs750496798
|
0.00001
|
NM_000203.5(IDUA):c.1112T>A (p.Val371Asp)
|
rs1475290359
|
0.00001
|
NM_000203.5(IDUA):c.1127C>T (p.Pro376Leu)
|
rs1038727823
|
0.00001
|
NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg)
|
rs1553917309
|
0.00001
|
NM_000203.5(IDUA):c.1163C>A (p.Thr388Lys)
|
rs794727896
|
0.00001
|
NM_000203.5(IDUA):c.1168A>G (p.Met390Val)
|
rs1455637147
|
0.00001
|
NM_000203.5(IDUA):c.1169T>C (p.Met390Thr)
|
rs1157083700
|
0.00001
|
NM_000203.5(IDUA):c.1186C>T (p.Leu396=)
|
rs1011474273
|
0.00001
|
NM_000203.5(IDUA):c.1208C>T (p.Ala403Val)
|
rs1253435204
|
0.00001
|
NM_000203.5(IDUA):c.1226G>A (p.Gly409Glu)
|
rs1465083754
|
0.00001
|
NM_000203.5(IDUA):c.1264G>C (p.Ala422Pro)
|
rs1392555572
|
0.00001
|
NM_000203.5(IDUA):c.1289C>T (p.Pro430Leu)
|
rs1197582697
|
0.00001
|
NM_000203.5(IDUA):c.1398C>T (p.Gly466=)
|
rs1370338557
|
0.00001
|
NM_000203.5(IDUA):c.1403-11A>G
|
rs1335436961
|
0.00001
|
NM_000203.5(IDUA):c.1452C>A (p.Asp484Glu)
|
rs4690224
|
0.00001
|
NM_000203.5(IDUA):c.1490C>A (p.Thr497Lys)
|
rs1436395282
|
0.00001
|
NM_000203.5(IDUA):c.1499A>G (p.Gln500Arg)
|
rs1715216061
|
0.00001
|
NM_000203.5(IDUA):c.159C>T (p.Cys53=)
|
rs758190824
|
0.00001
|
NM_000203.5(IDUA):c.1646G>T (p.Gly549Val)
|
rs1171379194
|
0.00001
|
NM_000203.5(IDUA):c.1651G>C (p.Val551Leu)
|
rs778877259
|
0.00001
|
NM_000203.5(IDUA):c.1716C>G (p.His572Gln)
|
rs1253075699
|
0.00001
|
NM_000203.5(IDUA):c.1717G>T (p.Val573Leu)
|
rs146588560
|
0.00001
|
NM_000203.5(IDUA):c.1744G>A (p.Glu582Lys)
|
rs762037549
|
0.00001
|
NM_000203.5(IDUA):c.1771G>A (p.Ala591Thr)
|
rs398123257
|
0.00001
|
NM_000203.5(IDUA):c.1802C>T (p.Thr601Ile)
|
rs200089576
|
0.00001
|
NM_000203.5(IDUA):c.193G>A (p.Val65Ile)
|
rs762406262
|
0.00001
|
NM_000203.5(IDUA):c.1949C>T (p.Pro650Leu)
|
rs751132616
|
0.00001
|
NM_000203.5(IDUA):c.1957C>T (p.Pro653Ser)
|
rs970991915
|
0.00001
|
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)
|
rs780165694
|
0.00001
|
NM_000203.5(IDUA):c.233G>A (p.Gly78Asp)
|
rs751792135
|
0.00001
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
NM_000203.5(IDUA):c.249C>T (p.Arg83=)
|
rs765563471
|
0.00001
|
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys)
|
rs777698606
|
0.00001
|
NM_000203.5(IDUA):c.300G>T (p.Arg100Ser)
|
rs1340970137
|
0.00001
|
NM_000203.5(IDUA):c.31C>G (p.Leu11Val)
|
rs1423609884
|
0.00001
|
NM_000203.5(IDUA):c.357C>T (p.Asp119=)
|
rs1262464994
|
0.00001
|
NM_000203.5(IDUA):c.497G>C (p.Arg166Thr)
|
rs762623046
|
0.00001
|
NM_000203.5(IDUA):c.557A>G (p.His186Arg)
|
rs758439259
|
0.00001
|
NM_000203.5(IDUA):c.600C>G (p.Asn200Lys)
|
rs763375487
|
0.00001
|
NM_000203.5(IDUA):c.617C>T (p.Ser206Leu)
|
rs756131787
|
0.00001
|
NM_000203.5(IDUA):c.649C>T (p.Arg217Trp)
|
rs1178237301
|
0.00001
|
NM_000203.5(IDUA):c.65C>T (p.Pro22Leu)
|
rs745879759
|
0.00001
|
NM_000203.5(IDUA):c.692C>T (p.Ser231Phe)
|
rs933301757
|
0.00001
|
NM_000203.5(IDUA):c.73C>T (p.Pro25Ser)
|
rs775731864
|
0.00001
|
NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)
|
rs546933529
|
0.00001
|
NM_000203.5(IDUA):c.770A>G (p.Asp257Gly)
|
rs1001962975
|
0.00001
|
NM_000203.5(IDUA):c.784C>T (p.His262Tyr)
|
rs375305122
|
0.00001
|
NM_000203.5(IDUA):c.814A>C (p.Ile272Leu)
|
rs536381533
|
0.00001
|
NM_000203.5(IDUA):c.850C>T (p.Arg284Trp)
|
rs1426919426
|
0.00001
|
NM_000203.5(IDUA):c.90C>G (p.His30Gln)
|
rs553425887
|
0.00001
|
NM_000203.5(IDUA):c.972+8G>A
|
rs774327124
|
0.00001
|
NM_000203.5(IDUA):c.973-4G>A
|
rs745832717
|
0.00001
|
NM_000207.3(INS):c.25C>T (p.Pro9Ser)
|
rs372122432
|
0.00001
|
NM_000208.4(INSR):c.14G>A (p.Gly5Asp)
|
rs886054690
|
0.00001
|
NM_000208.4(INSR):c.2498G>A (p.Arg833Gln)
|
rs777565396
|
0.00001
|
NM_000209.4(PDX1):c.208G>A (p.Val70Met)
|
rs1234749777
|
0.00001
|
NM_000209.4(PDX1):c.98C>A (p.Pro33His)
|
rs767363575
|
0.00001
|
NM_000262.3(NAGA):c.*268G>A
|
rs886057596
|
0.00001
|
NM_000262.3(NAGA):c.1013T>C (p.Leu338Ser)
|
rs778343270
|
0.00001
|
NM_000262.3(NAGA):c.1085G>A (p.Gly362Glu)
|
rs199980021
|
0.00001
|
NM_000262.3(NAGA):c.1142G>A (p.Arg381Gln)
|
rs144771084
|
0.00001
|
NM_000262.3(NAGA):c.12G>A (p.Lys4=)
|
rs776865602
|
0.00001
|
NM_000262.3(NAGA):c.19C>T (p.Leu7Phe)
|
rs886057597
|
0.00001
|
NM_000262.3(NAGA):c.542G>A (p.Arg181His)
|
rs777425990
|
0.00001
|
NM_000262.3(NAGA):c.549C>T (p.Ile183=)
|
rs374984089
|
0.00001
|
NM_000262.3(NAGA):c.646G>A (p.Asp216Asn)
|
rs754849987
|
0.00001
|
NM_000262.3(NAGA):c.802G>A (p.Ala268Thr)
|
rs1569457519
|
0.00001
|
NM_000263.3(NAGLU):c.-228C>G
|
rs554915381
|
0.00001
|
NM_000263.4(NAGLU):c.1004A>G (p.Tyr335Cys)
|
rs768918822
|
0.00001
|
NM_000263.4(NAGLU):c.1028C>T (p.Thr343Ile)
|
rs1469114327
|
0.00001
|
NM_000263.4(NAGLU):c.1086G>A (p.Gly362=)
|
rs754413995
|
0.00001
|
NM_000263.4(NAGLU):c.109G>T (p.Ala37Ser)
|
rs2092906065
|
0.00001
|
NM_000263.4(NAGLU):c.1129C>T (p.Arg377Cys)
|
rs762372103
|
0.00001
|
NM_000263.4(NAGLU):c.1130G>A (p.Arg377His)
|
rs199850748
|
0.00001
|
NM_000263.4(NAGLU):c.1178G>A (p.Arg393His)
|
rs753409259
|
0.00001
|
NM_000263.4(NAGLU):c.1267G>A (p.Val423Met)
|
rs1237047553
|
0.00001
|
NM_000263.4(NAGLU):c.1306T>C (p.Ser436Pro)
|
rs1432587285
|
0.00001
|
NM_000263.4(NAGLU):c.1331C>T (p.Ala444Val)
|
rs767179184
|
0.00001
|
NM_000263.4(NAGLU):c.135G>C (p.Ala45=)
|
rs2092906139
|
0.00001
|
NM_000263.4(NAGLU):c.1442G>A (p.Arg481Gln)
|
rs868244206
|
0.00001
|
NM_000263.4(NAGLU):c.1463C>T (p.Pro488Leu)
|
rs748902330
|
0.00001
|
NM_000263.4(NAGLU):c.1487T>C (p.Leu496Pro)
|
rs569519789
|
0.00001
|
NM_000263.4(NAGLU):c.1501G>A (p.Val501Met)
|
rs1300652650
|
0.00001
|
NM_000263.4(NAGLU):c.1503G>A (p.Val501=)
|
rs537078152
|
0.00001
|
NM_000263.4(NAGLU):c.1565C>T (p.Ser522Phe)
|
rs764446533
|
0.00001
|
NM_000263.4(NAGLU):c.1621C>T (p.Arg541Trp)
|
rs780527821
|
0.00001
|
NM_000263.4(NAGLU):c.1643C>T (p.Pro548Leu)
|
rs1362489439
|
0.00001
|
NM_000263.4(NAGLU):c.1660C>T (p.Pro554Ser)
|
rs1049965915
|
0.00001
|
NM_000263.4(NAGLU):c.1661C>T (p.Pro554Leu)
|
rs1166458645
|
0.00001
|
NM_000263.4(NAGLU):c.176A>G (p.Lys59Arg)
|
rs1217324478
|
0.00001
|
NM_000263.4(NAGLU):c.1772T>C (p.Leu591Pro)
|
rs1215582852
|
0.00001
|
NM_000263.4(NAGLU):c.1783G>A (p.Gly595Arg)
|
rs773277748
|
0.00001
|
NM_000263.4(NAGLU):c.1822G>A (p.Glu608Lys)
|
rs756138287
|
0.00001
|
NM_000263.4(NAGLU):c.1843C>T (p.Arg615Cys)
|
rs199729746
|
0.00001
|
NM_000263.4(NAGLU):c.1858A>G (p.Ser620Gly)
|
rs777994015
|
0.00001
|
NM_000263.4(NAGLU):c.188A>G (p.Asp63Gly)
|
rs1264514990
|
0.00001
|
NM_000263.4(NAGLU):c.1892G>A (p.Ser631Asn)
|
rs1227171021
|
0.00001
|
NM_000263.4(NAGLU):c.1918C>G (p.Gln640Glu)
|
rs753670246
|
0.00001
|
NM_000263.4(NAGLU):c.1948G>A (p.Gly650Arg)
|
rs1197265081
|
0.00001
|
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val)
|
rs746006696
|
0.00001
|
NM_000263.4(NAGLU):c.2026C>T (p.Arg676Trp)
|
rs774918711
|
0.00001
|
NM_000263.4(NAGLU):c.2042C>T (p.Ala681Val)
|
rs540744217
|
0.00001
|
NM_000263.4(NAGLU):c.2083C>T (p.His695Tyr)
|
rs146582131
|
0.00001
|
NM_000263.4(NAGLU):c.2109A>C (p.Gln703His)
|
rs754927686
|
0.00001
|
NM_000263.4(NAGLU):c.2116C>T (p.Gln706Ter)
|
rs752527478
|
0.00001
|
NM_000263.4(NAGLU):c.212G>C (p.Gly71Ala)
|
rs1329966515
|
0.00001
|
NM_000263.4(NAGLU):c.2164G>A (p.Asp722Asn)
|
rs367726645
|
0.00001
|
NM_000263.4(NAGLU):c.2221G>A (p.Gly741Ser)
|
rs553153753
|
0.00001
|
NM_000263.4(NAGLU):c.2222G>A (p.Gly741Asp)
|
rs1455286651
|
0.00001
|
NM_000263.4(NAGLU):c.262G>C (p.Gly88Arg)
|
rs1227387097
|
0.00001
|
NM_000263.4(NAGLU):c.274T>C (p.Tyr92His)
|
rs1555621454
|
0.00001
|
NM_000263.4(NAGLU):c.277C>G (p.Leu93Val)
|
rs1285791183
|
0.00001
|
NM_000263.4(NAGLU):c.383+5C>G
|
rs762932040
|
0.00001
|
NM_000263.4(NAGLU):c.384-10C>G
|
rs772996063
|
0.00001
|
NM_000263.4(NAGLU):c.408C>T (p.Cys136=)
|
rs750741772
|
0.00001
|
NM_000263.4(NAGLU):c.508G>A (p.Gly170Ser)
|
rs762238741
|
0.00001
|
NM_000263.4(NAGLU):c.530G>A (p.Arg177Gln)
|
rs1323850779
|
0.00001
|
NM_000263.4(NAGLU):c.576C>A (p.Phe192Leu)
|
rs765009822
|
0.00001
|
NM_000263.4(NAGLU):c.59G>T (p.Gly20Val)
|
rs1344891508
|
0.00001
|
NM_000263.4(NAGLU):c.604G>A (p.Gly202Arg)
|
rs762576999
|
0.00001
|
NM_000263.4(NAGLU):c.608G>A (p.Arg203Gln)
|
rs904118831
|
0.00001
|
NM_000263.4(NAGLU):c.709G>A (p.Gly237Ser)
|
rs1347490896
|
0.00001
|
NM_000263.4(NAGLU):c.737C>T (p.Ala246Val)
|
rs1405289098
|
0.00001
|
NM_000263.4(NAGLU):c.753G>A (p.Glu251=)
|
rs367604063
|
0.00001
|
NM_000263.4(NAGLU):c.757G>A (p.Val253Ile)
|
rs764452721
|
0.00001
|
NM_000263.4(NAGLU):c.827C>T (p.Ser276Phe)
|
rs769713129
|
0.00001
|
NM_000263.4(NAGLU):c.874G>A (p.Gly292Arg)
|
rs1358994052
|
0.00001
|
NM_000263.4(NAGLU):c.890G>A (p.Arg297Gln)
|
rs200625281
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000278.5(PAX2):c.511T>C (p.Ser171Pro)
|
rs781489326
|
0.00001
|
NM_000284.4(PDHA1):c.*1376C>T
|
rs963546680
|
0.00001
|
NM_000284.4(PDHA1):c.*1779A>T
|
rs758279534
|
0.00001
|
NM_000284.4(PDHA1):c.1000G>A (p.Glu334Lys)
|
rs1269552788
|
0.00001
|
NM_000284.4(PDHA1):c.1066G>A (p.Asp356Asn)
|
rs770669838
|
0.00001
|
NM_000284.4(PDHA1):c.292-23A>G
|
rs1057518702
|
0.00001
|
NM_000284.4(PDHA1):c.522C>T (p.Gly174=)
|
rs769308417
|
0.00001
|
NM_000284.4(PDHA1):c.661A>G (p.Ile221Val)
|
rs1410654779
|
0.00001
|
NM_000284.4(PDHA1):c.82C>T (p.Arg28Cys)
|
rs759062849
|
0.00001
|
NM_000284.4(PDHA1):c.900-2dup
|
rs779132922
|
0.00001
|
NM_000284.4(PDHA1):c.972G>A (p.Met324Ile)
|
rs755945768
|
0.00001
|
NM_000289.6(PFKM):c.*532A>G
|
rs927525907
|
0.00001
|
NM_000289.6(PFKM):c.1005A>G (p.Val335=)
|
rs1454843075
|
0.00001
|
NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys)
|
rs762357629
|
0.00001
|
NM_000289.6(PFKM):c.1109C>G (p.Ala370Gly)
|
rs531875148
|
0.00001
|
NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)
|
rs187131358
|
0.00001
|
NM_000289.6(PFKM):c.1242C>G (p.Gly414=)
|
rs886049454
|
0.00001
|
NM_000289.6(PFKM):c.1412+6T>C
|
rs1417385697
|
0.00001
|
NM_000289.6(PFKM):c.1540C>A (p.Gln514Lys)
|
rs1487607332
|
0.00001
|
NM_000289.6(PFKM):c.2096G>A (p.Arg699Gln)
|
rs770276917
|
0.00001
|
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr)
|
rs373055147
|
0.00001
|
NM_000289.6(PFKM):c.2338G>A (p.Val780Ile)
|
rs537327893
|
0.00001
|
NM_000289.6(PFKM):c.289G>A (p.Gly97Arg)
|
rs768553877
|
0.00001
|
NM_000289.6(PFKM):c.320A>G (p.Lys107Arg)
|
rs763214745
|
0.00001
|
NM_000289.6(PFKM):c.634T>C (p.Cys212Arg)
|
rs755956424
|
0.00001
|
NM_000289.6(PFKM):c.800T>C (p.Ile267Thr)
|
rs748720104
|
0.00001
|
NM_000289.6(PFKM):c.864A>G (p.Gly288=)
|
rs1313998695
|
0.00001
|
NM_000289.6(PFKM):c.935T>C (p.Leu312Pro)
|
rs1251670627
|
0.00001
|
NM_000289.6(PFKM):c.965T>C (p.Met322Thr)
|
rs1225653591
|
0.00001
|
NM_000290.4(PGAM2):c.143C>T (p.Ala48Val)
|
rs1308236739
|
0.00001
|
NM_000290.4(PGAM2):c.19G>A (p.Val7Met)
|
rs774293728
|
0.00001
|
NM_000290.4(PGAM2):c.268C>T (p.Arg90Trp)
|
rs104894034
|
0.00001
|
NM_000290.4(PGAM2):c.374C>T (p.Pro125Leu)
|
rs1385458139
|
0.00001
|
NM_000290.4(PGAM2):c.545T>C (p.Leu182Pro)
|
rs749757183
|
0.00001
|
NM_000290.4(PGAM2):c.611C>T (p.Ala204Val)
|
rs747760221
|
0.00001
|
NM_000291.4(PGK1):c.320C>T (p.Ala107Val)
|
rs1569550806
|
0.00001
|
NM_000291.4(PGK1):c.452G>A (p.Arg151Gln)
|
rs1557247552
|
0.00001
|
NM_000291.4(PGK1):c.575A>T (p.Lys192Met)
|
rs782204187
|
0.00001
|
NM_000291.4(PGK1):c.758T>C (p.Ile253Thr)
|
rs137852534
|
0.00001
|
NM_000291.4(PGK1):c.872A>G (p.Lys291Arg)
|
rs1187663822
|
0.00001
|
NM_000292.3(PHKA2):c.1099C>T (p.Arg367Cys)
|
rs1287580250
|
0.00001
|
NM_000292.3(PHKA2):c.1499G>A (p.Arg500Gln)
|
rs753412659
|
0.00001
|
NM_000292.3(PHKA2):c.2161A>G (p.Lys721Glu)
|
rs368123691
|
0.00001
|
NM_000292.3(PHKA2):c.2407G>A (p.Val803Ile)
|
rs766866500
|
0.00001
|
NM_000292.3(PHKA2):c.2443G>A (p.Gly815Ser)
|
rs747280022
|
0.00001
|
NM_000292.3(PHKA2):c.2462G>T (p.Gly821Val)
|
rs373884791
|
0.00001
|
NM_000292.3(PHKA2):c.2686G>T (p.Val896Phe)
|
rs2047817433
|
0.00001
|
NM_000292.3(PHKA2):c.2789G>A (p.Arg930Gln)
|
rs201611776
|
0.00001
|
NM_000292.3(PHKA2):c.3127T>C (p.Ser1043Pro)
|
rs757379156
|
0.00001
|
NM_000292.3(PHKA2):c.535G>A (p.Ala179Thr)
|
rs749441642
|
0.00001
|
NM_000292.3(PHKA2):c.721A>G (p.Ile241Val)
|
rs367696431
|
0.00001
|
NM_000293.3(PHKB):c.*349C>T
|
rs886052025
|
0.00001
|
NM_000293.3(PHKB):c.*595G>A
|
rs563945926
|
0.00001
|
NM_000293.3(PHKB):c.1274G>A (p.Gly425Asp)
|
rs774768331
|
0.00001
|
NM_000293.3(PHKB):c.1351G>A (p.Ala451Thr)
|
rs745821795
|
0.00001
|
NM_000293.3(PHKB):c.1405C>T (p.Arg469Cys)
|
rs182398740
|
0.00001
|
NM_000293.3(PHKB):c.14C>T (p.Ala5Val)
|
rs778015344
|
0.00001
|
NM_000293.3(PHKB):c.1797+9G>A
|
rs746001808
|
0.00001
|
NM_000293.3(PHKB):c.1862T>C (p.Ile621Thr)
|
rs1042750036
|
0.00001
|
NM_000293.3(PHKB):c.2014C>T (p.Arg672Ter)
|
rs1273669177
|
0.00001
|
NM_000293.3(PHKB):c.203C>T (p.Thr68Ile)
|
rs1555472064
|
0.00001
|
NM_000293.3(PHKB):c.2106C>T (p.Thr702=)
|
rs1248967430
|
0.00001
|
NM_000293.3(PHKB):c.2186A>C (p.Gln729Pro)
|
rs573384357
|
0.00001
|
NM_000293.3(PHKB):c.2196+14A>G
|
rs751084282
|
0.00001
|
NM_000293.3(PHKB):c.2347C>T (p.Arg783Cys)
|
rs143421326
|
0.00001
|
NM_000293.3(PHKB):c.2359G>C (p.Ala787Pro)
|
rs1485645875
|
0.00001
|
NM_000293.3(PHKB):c.245C>G (p.Ala82Gly)
|
rs754835322
|
0.00001
|
NM_000293.3(PHKB):c.2668C>T (p.Arg890Cys)
|
rs555108367
|
0.00001
|
NM_000293.3(PHKB):c.2710C>T (p.Pro904Ser)
|
rs1400548271
|
0.00001
|
NM_000293.3(PHKB):c.2818G>A (p.Gly940Arg)
|
rs929325638
|
0.00001
|
NM_000293.3(PHKB):c.2819G>C (p.Gly940Ala)
|
rs781357865
|
0.00001
|
NM_000293.3(PHKB):c.3030G>A (p.Leu1010=)
|
rs1402815994
|
0.00001
|
NM_000293.3(PHKB):c.31G>A (p.Val11Met)
|
rs1217081596
|
0.00001
|
NM_000293.3(PHKB):c.3214G>A (p.Ala1072Thr)
|
rs769735460
|
0.00001
|
NM_000293.3(PHKB):c.352G>C (p.Ala118Pro)
|
rs121918022
|
0.00001
|
NM_000293.3(PHKB):c.365T>C (p.Met122Thr)
|
rs1970349740
|
0.00001
|
NM_000293.3(PHKB):c.370G>C (p.Gly124Arg)
|
rs749597903
|
0.00001
|
NM_000293.3(PHKB):c.522del (p.Val175fs)
|
rs1242540921
|
0.00001
|
NM_000293.3(PHKB):c.595-5T>G
|
rs369184808
|
0.00001
|
NM_000293.3(PHKB):c.727A>C (p.Lys243Gln)
|
rs190737988
|
0.00001
|
NM_000293.3(PHKB):c.76+2T>C
|
rs1303617854
|
0.00001
|
NM_000293.3(PHKB):c.820C>T (p.Arg274Cys)
|
rs781197907
|
0.00001
|
NM_000293.3(PHKB):c.892C>T (p.Pro298Ser)
|
rs143805637
|
0.00001
|
NM_000294.2(PHKG2):c.-106G>A
|
rs879382458
|
0.00001
|
NM_000294.3(PHKG2):c.1147C>T (p.Pro383Ser)
|
rs920855301
|
0.00001
|
NM_000294.3(PHKG2):c.214G>A (p.Glu72Lys)
|
rs753644625
|
0.00001
|
NM_000294.3(PHKG2):c.244C>T (p.Arg82Cys)
|
rs779594016
|
0.00001
|
NM_000294.3(PHKG2):c.431T>C (p.Leu144Pro)
|
rs1567261889
|
0.00001
|
NM_000294.3(PHKG2):c.469G>A (p.Glu157Lys)
|
rs752961445
|
0.00001
|
NM_000294.3(PHKG2):c.608T>C (p.Met203Thr)
|
rs192866993
|
0.00001
|
NM_000294.3(PHKG2):c.907A>G (p.Thr303Ala)
|
rs780358808
|
0.00001
|
NM_000294.3(PHKG2):c.95+11G>A
|
rs886051910
|
0.00001
|
NM_000294.3(PHKG2):c.958C>T (p.Arg320Ter)
|
rs560414449
|
0.00001
|
NM_000298.6(PKLR):c.*275C>T
|
rs886045350
|
0.00001
|
NM_000298.6(PKLR):c.-31G>A
|
rs778164541
|
0.00001
|
NM_000298.6(PKLR):c.1081A>G (p.Asn361Asp)
|
rs765903674
|
0.00001
|
NM_000298.6(PKLR):c.1088C>A (p.Ala363Glu)
|
rs763466930
|
0.00001
|
NM_000298.6(PKLR):c.1217G>A (p.Gly406Glu)
|
rs779817999
|
0.00001
|
NM_000298.6(PKLR):c.1457G>A (p.Arg486Gln)
|
rs768210809
|
0.00001
|
NM_000308.4(CTSA):c.-42C>T
|
rs765245462
|
0.00001
|
NM_000308.4(CTSA):c.-43T>A
|
rs779305626
|
0.00001
|
NM_000308.4(CTSA):c.1039C>T (p.Arg347Trp)
|
rs1437597214
|
0.00001
|
NM_000308.4(CTSA):c.110G>C (p.Arg37Pro)
|
rs751427255
|
0.00001
|
NM_000308.4(CTSA):c.1111C>T (p.Arg371Cys)
|
rs766490643
|
0.00001
|
NM_000308.4(CTSA):c.1195G>A (p.Val399Ile)
|
rs779857539
|
0.00001
|
NM_000308.4(CTSA):c.11C>G (p.Ala4Gly)
|
rs1986920005
|
0.00001
|
NM_000308.4(CTSA):c.1270C>T (p.Arg424Trp)
|
rs1247403237
|
0.00001
|
NM_000308.4(CTSA):c.1366G>A (p.Gly456Ser)
|
rs200051553
|
0.00001
|
NM_000308.4(CTSA):c.1382C>A (p.Thr461Asn)
|
rs149971062
|
0.00001
|
NM_000308.4(CTSA):c.1435C>G (p.Pro479Ala)
|
rs1411857412
|
0.00001
|
NM_000308.4(CTSA):c.394G>A (p.Val132Met)
|
rs137854545
|
0.00001
|
NM_000308.4(CTSA):c.533G>C (p.Ser178Thr)
|
rs757124963
|
0.00001
|
NM_000308.4(CTSA):c.53T>G (p.Leu18Arg)
|
rs749819661
|
0.00001
|
NM_000308.4(CTSA):c.600+3G>A
|
rs1175825927
|
0.00001
|
NM_000308.4(CTSA):c.692+6G>A
|
rs199997385
|
0.00001
|
NM_000308.4(CTSA):c.699G>A (p.Trp233Ter)
|
rs766114836
|
0.00001
|
NM_000308.4(CTSA):c.724T>A (p.Ser242Thr)
|
rs1381644117
|
0.00001
|
NM_000308.4(CTSA):c.74G>A (p.Arg25Gln)
|
rs746200419
|
0.00001
|
NM_000308.4(CTSA):c.839C>T (p.Pro280Leu)
|
rs778824488
|
0.00001
|
NM_000308.4(CTSA):c.877A>G (p.Lys293Glu)
|
rs779873368
|
0.00001
|
NM_000340.2(SLC2A2):c.*1086G>A
|
rs185726034
|
0.00001
|
NM_000340.2(SLC2A2):c.*11C>G
|
rs761913998
|
0.00001
|
NM_000340.2(SLC2A2):c.*166G>A
|
rs1232606277
|
0.00001
|
NM_000340.2(SLC2A2):c.*568A>T
|
rs886058173
|
0.00001
|
NM_000340.2(SLC2A2):c.1069-10A>G
|
rs1487335649
|
0.00001
|
NM_000340.2(SLC2A2):c.1097G>A (p.Arg366His)
|
rs755000812
|
0.00001
|
NM_000340.2(SLC2A2):c.1169T>G (p.Leu390Arg)
|
rs760200790
|
0.00001
|
NM_000340.2(SLC2A2):c.1221T>C (p.Phe407=)
|
rs775605288
|
0.00001
|
NM_000340.2(SLC2A2):c.1295G>A (p.Arg432His)
|
rs75144723
|
0.00001
|
NM_000340.2(SLC2A2):c.1388C>A (p.Pro463His)
|
rs1272353608
|
0.00001
|
NM_000340.2(SLC2A2):c.1463A>G (p.Lys488Arg)
|
rs777806589
|
0.00001
|
NM_000340.2(SLC2A2):c.188G>C (p.Ser63Thr)
|
rs1373290524
|
0.00001
|
NM_000340.2(SLC2A2):c.495T>C (p.Cys165=)
|
rs5401
|
0.00001
|
NM_000340.2(SLC2A2):c.580C>G (p.Leu194Val)
|
rs779065938
|
0.00001
|
NM_000340.2(SLC2A2):c.683G>A (p.Arg228Gln)
|
rs1560035364
|
0.00001
|
NM_000343.3(SLC5A1):c.-238G>A
|
rs1349973469
|
0.00001
|
NM_000343.4(SLC5A1):c.*1408G>A
|
rs1243897828
|
0.00001
|
NM_000343.4(SLC5A1):c.*1595A>C
|
rs1232699809
|
0.00001
|
NM_000343.4(SLC5A1):c.*1755T>G
|
rs886057413
|
0.00001
|
NM_000343.4(SLC5A1):c.*2201G>A
|
rs1394513769
|
0.00001
|
NM_000343.4(SLC5A1):c.*2694A>G
|
rs1379735549
|
0.00001
|
NM_000343.4(SLC5A1):c.*599C>T
|
rs2094055488
|
0.00001
|
NM_000343.4(SLC5A1):c.1028T>C (p.Ile343Thr)
|
rs774741107
|
0.00001
|
NM_000343.4(SLC5A1):c.1120A>G (p.Met374Val)
|
rs1397555319
|
0.00001
|
NM_000343.4(SLC5A1):c.1127A>G (p.Asn376Ser)
|
rs779179648
|
0.00001
|
NM_000343.4(SLC5A1):c.1256A>G (p.Glu419Gly)
|
rs1414911182
|
0.00001
|
NM_000343.4(SLC5A1):c.1276G>A (p.Gly426Arg)
|
rs1304151494
|
0.00001
|
NM_000343.4(SLC5A1):c.1314C>T (p.Ile438=)
|
rs1229387697
|
0.00001
|
NM_000343.4(SLC5A1):c.1360G>A (p.Asp454Asn)
|
rs202145392
|
0.00001
|
NM_000343.4(SLC5A1):c.154C>T (p.Arg52Cys)
|
rs767673239
|
0.00001
|
NM_000343.4(SLC5A1):c.1642A>T (p.Thr548Ser)
|
rs945722283
|
0.00001
|
NM_000343.4(SLC5A1):c.1673G>A (p.Arg558His)
|
rs201799893
|
0.00001
|
NM_000343.4(SLC5A1):c.1716C>T (p.Asp572=)
|
rs1475148938
|
0.00001
|
NM_000343.4(SLC5A1):c.1765G>T (p.Glu589Ter)
|
rs199727071
|
0.00001
|
NM_000343.4(SLC5A1):c.182C>T (p.Ala61Val)
|
rs1277952619
|
0.00001
|
NM_000343.4(SLC5A1):c.206C>T (p.Pro69Leu)
|
rs199683554
|
0.00001
|
NM_000343.4(SLC5A1):c.207+2dup
|
rs766189236
|
0.00001
|
NM_000343.4(SLC5A1):c.208-13T>A
|
rs200261297
|
0.00001
|
NM_000343.4(SLC5A1):c.325G>T (p.Val109Leu)
|
rs1260871547
|
0.00001
|
NM_000343.4(SLC5A1):c.404G>A (p.Arg135Gln)
|
rs373203939
|
0.00001
|
NM_000343.4(SLC5A1):c.43C>T (p.Arg15Trp)
|
rs33915717
|
0.00001
|
NM_000343.4(SLC5A1):c.477G>A (p.Ser159=)
|
rs775435397
|
0.00001
|
NM_000343.4(SLC5A1):c.609G>A (p.Thr203=)
|
rs200276021
|
0.00001
|
NM_000343.4(SLC5A1):c.650T>C (p.Ile217Thr)
|
rs1253967489
|
0.00001
|
NM_000343.4(SLC5A1):c.691G>A (p.Ala231Thr)
|
rs202020538
|
0.00001
|
NM_000343.4(SLC5A1):c.770C>T (p.Thr257Ile)
|
rs777779839
|
0.00001
|
NM_000343.4(SLC5A1):c.83A>G (p.Asp28Gly)
|
rs121912669
|
0.00001
|
NM_000343.4(SLC5A1):c.938G>A (p.Gly313Asp)
|
rs1336341879
|
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.108C>T (p.His36=)
|
rs757935183
|
0.00001
|
NM_000352.6(ABCC8):c.1095C>T (p.Ala365=)
|
rs1256418853
|
0.00001
|
NM_000352.6(ABCC8):c.1177-1G>A
|
rs1167993548
|
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.1428C>G (p.Phe476Leu)
|
rs867541142
|
0.00001
|
NM_000352.6(ABCC8):c.1467+9C>T
|
rs774224706
|
0.00001
|
NM_000352.6(ABCC8):c.1468-2A>T
|
rs1057516946
|
0.00001
|
NM_000352.6(ABCC8):c.148+3G>A
|
rs996321405
|
0.00001
|
NM_000352.6(ABCC8):c.1483C>T (p.Arg495Trp)
|
rs775894336
|
0.00001
|
NM_000352.6(ABCC8):c.1508T>C (p.Leu503Pro)
|
rs1554933168
|
0.00001
|
NM_000352.6(ABCC8):c.1512C>T (p.Arg504=)
|
rs148811815
|
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.1613T>C (p.Ile538Thr)
|
rs886048054
|
0.00001
|
NM_000352.6(ABCC8):c.165C>T (p.Ser55=)
|
rs1591928903
|
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.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.1818-7C>T
|
rs17846731
|
0.00001
|
NM_000352.6(ABCC8):c.1833C>T (p.Ser611=)
|
rs763273046
|
0.00001
|
NM_000352.6(ABCC8):c.1882G>A (p.Glu628Lys)
|
rs565662182
|
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.1980C>T (p.Thr660=)
|
rs766374930
|
0.00001
|
NM_000352.6(ABCC8):c.2022T>C (p.Ala674=)
|
rs371724951
|
0.00001
|
NM_000352.6(ABCC8):c.2116+2T>C
|
rs786204676
|
0.00001
|
NM_000352.6(ABCC8):c.2169T>C (p.Leu723=)
|
rs1591794603
|
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.2236G>A (p.Glu746Lys)
|
rs753296261
|
0.00001
|
NM_000352.6(ABCC8):c.2256-3C>T
|
rs756328102
|
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.2368G>A (p.Glu790Lys)
|
rs1317396512
|
0.00001
|
NM_000352.6(ABCC8):c.2391-5G>A
|
rs370096884
|
0.00001
|
NM_000352.6(ABCC8):c.2391-6C>T
|
rs556416038
|
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.2556+1G>T
|
rs749271190
|
0.00001
|
NM_000352.6(ABCC8):c.2556+9A>C
|
rs1954870052
|
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.291-8C>T
|
rs370095966
|
0.00001
|
NM_000352.6(ABCC8):c.2937C>T (p.Ser979=)
|
rs780868010
|
0.00001
|
NM_000352.6(ABCC8):c.3053C>T (p.Ser1018Leu)
|
rs775087568
|
0.00001
|
NM_000352.6(ABCC8):c.3076C>G (p.Leu1026Val)
|
rs1354438772
|
0.00001
|
NM_000352.6(ABCC8):c.3147C>T (p.Asn1049=)
|
rs1317881086
|
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.3228G>T (p.Val1076=)
|
rs368587840
|
0.00001
|
NM_000352.6(ABCC8):c.3243G>A (p.Thr1081=)
|
rs771538281
|
0.00001
|
NM_000352.6(ABCC8):c.3455C>T (p.Ala1152Val)
|
rs1354859002
|
0.00001
|
NM_000352.6(ABCC8):c.3493G>A (p.Val1165Met)
|
rs769818698
|
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.3654T>C (p.Tyr1218=)
|
rs769968875
|
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.3868-1G>A
|
rs766431403
|
0.00001
|
NM_000352.6(ABCC8):c.3868-5C>T
|
rs1591715618
|
0.00001
|
NM_000352.6(ABCC8):c.3951C>G (p.Leu1317=)
|
rs765708759
|
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.4095T>C (p.Asn1365=)
|
rs1207446214
|
0.00001
|
NM_000352.6(ABCC8):c.4119+10C>T
|
rs201955628
|
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.4194C>T (p.Phe1398=)
|
rs746249607
|
0.00001
|
NM_000352.6(ABCC8):c.4267A>G (p.Ile1423Val)
|
rs748831440
|
0.00001
|
NM_000352.6(ABCC8):c.4281C>A (p.Asp1427Glu)
|
rs1334003978
|
0.00001
|
NM_000352.6(ABCC8):c.4285G>A (p.Val1429Ile)
|
rs755577144
|
0.00001
|
NM_000352.6(ABCC8):c.4296C>T (p.Ser1432=)
|
rs752222583
|
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.4376T>G (p.Leu1459Arg)
|
rs971604271
|
0.00001
|
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)
|
rs28936371
|
0.00001
|
NM_000352.6(ABCC8):c.4485C>T (p.Phe1495=)
|
rs267602801
|
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.4607C>T (p.Ala1536Val)
|
rs745918247
|
0.00001
|
NM_000352.6(ABCC8):c.4608G>A (p.Ala1536=)
|
rs1439464815
|
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.487G>A (p.Gly163Ser)
|
rs574487898
|
0.00001
|
NM_000352.6(ABCC8):c.496C>A (p.Gln166Lys)
|
rs1591896370
|
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.541A>T (p.Met181Leu)
|
rs368894930
|
0.00001
|
NM_000352.6(ABCC8):c.579+9G>A
|
rs776165640
|
0.00001
|
NM_000352.6(ABCC8):c.686C>T (p.Thr229Ile)
|
rs768017509
|
0.00001
|
NM_000352.6(ABCC8):c.886G>A (p.Gly296Arg)
|
rs148529020
|
0.00001
|
NM_000352.6(ABCC8):c.926C>G (p.Ala309Gly)
|
rs149347593
|
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_000352.6(ABCC8):c.987G>A (p.Lys329=)
|
rs1216809389
|
0.00001
|
NM_000352.6(ABCC8):c.993C>T (p.Asn331=)
|
rs752188418
|
0.00001
|
NM_000365.6(TPI1):c.*239C>T
|
rs886049811
|
0.00001
|
NM_000365.6(TPI1):c.*69C>T
|
rs782061169
|
0.00001
|
NM_000365.6(TPI1):c.1A>G (p.Met1Val)
|
rs201432576
|
0.00001
|
NM_000365.6(TPI1):c.569G>A (p.Arg190Gln)
|
rs1565538350
|
0.00001
|
NM_000365.6(TPI1):c.737A>G (p.Asn246Ser)
|
rs781891192
|
0.00001
|
NM_000404.3(GLB1):c.-73C>T
|
rs530326876
|
0.00001
|
NM_000404.4(GLB1):c.1202T>C (p.Leu401Pro)
|
rs1301956348
|
0.00001
|
NM_000404.4(GLB1):c.1202T>G (p.Leu401Arg)
|
rs1301956348
|
0.00001
|
NM_000404.4(GLB1):c.1241G>A (p.Gly414Glu)
|
rs1399147380
|
0.00001
|
NM_000404.4(GLB1):c.1261A>G (p.Thr421Ala)
|
rs779877504
|
0.00001
|
NM_000404.4(GLB1):c.1438A>G (p.Met480Val)
|
rs1280400930
|
0.00001
|
NM_000404.4(GLB1):c.1444C>T (p.Arg482Cys)
|
rs72555365
|
0.00001
|
NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys)
|
rs1553606400
|
0.00001
|
NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn)
|
rs780232995
|
0.00001
|
NM_000404.4(GLB1):c.1481G>T (p.Gly494Val)
|
rs202007119
|
0.00001
|
NM_000404.4(GLB1):c.1643T>A (p.Leu548His)
|
rs1335107953
|
0.00001
|
NM_000404.4(GLB1):c.1753G>A (p.Gly585Ser)
|
rs1291361971
|
0.00001
|
NM_000404.4(GLB1):c.1772A>G (p.Tyr591Cys)
|
rs72555371
|
0.00001
|
NM_000404.4(GLB1):c.1852G>A (p.Val618Met)
|
rs1375909576
|
0.00001
|
NM_000404.4(GLB1):c.1873C>T (p.Pro625Ser)
|
rs755581184
|
0.00001
|
NM_000404.4(GLB1):c.188T>A (p.Phe63Tyr)
|
rs1228819238
|
0.00001
|
NM_000404.4(GLB1):c.2002A>T (p.Lys668Ter)
|
rs758168173
|
0.00001
|
NM_000404.4(GLB1):c.2009A>G (p.Lys670Arg)
|
rs764348340
|
0.00001
|
NM_000404.4(GLB1):c.20G>C (p.Arg7Pro)
|
rs1484753571
|
0.00001
|
NM_000404.4(GLB1):c.295T>A (p.Ser99Thr)
|
rs968429427
|
0.00001
|
NM_000404.4(GLB1):c.434T>C (p.Ile145Thr)
|
rs1416369501
|
0.00001
|
NM_000404.4(GLB1):c.446C>T (p.Ser149Phe)
|
rs778700089
|
0.00001
|
NM_000404.4(GLB1):c.524A>G (p.Gln175Arg)
|
rs367692210
|
0.00001
|
NM_000404.4(GLB1):c.534G>A (p.Gly178=)
|
rs928862880
|
0.00001
|
NM_000404.4(GLB1):c.553-8A>G
|
rs886058342
|
0.00001
|
NM_000404.4(GLB1):c.703G>A (p.Gly235Ser)
|
rs766019573
|
0.00001
|
NM_000404.4(GLB1):c.797A>G (p.Asn266Ser)
|
rs1214295886
|
0.00001
|
NM_000404.4(GLB1):c.836A>G (p.Gln279Arg)
|
rs1185364016
|
0.00001
|
NM_000404.4(GLB1):c.845C>T (p.Ser282Phe)
|
rs1261599031
|
0.00001
|
NM_000404.4(GLB1):c.850A>G (p.Ile284Val)
|
rs746547573
|
0.00001
|
NM_000404.4(GLB1):c.884A>G (p.Asp295Gly)
|
rs76016860
|
0.00001
|
NM_000404.4(GLB1):c.944C>A (p.Ala315Asp)
|
rs1284882385
|
0.00001
|
NM_000411.8(HLCS):c.-393+7C>T
|
rs886057081
|
0.00001
|
NM_000434.3(NEU1):c.-49C>T
|
rs374172739
|
0.00001
|
NM_000434.4(NEU1):c.-13G>A
|
rs886061291
|
0.00001
|
NM_000434.4(NEU1):c.1089A>G (p.Leu363=)
|
rs757684373
|
0.00001
|
NM_000434.4(NEU1):c.1217T>A (p.Val406Glu)
|
rs1762428314
|
0.00001
|
NM_000434.4(NEU1):c.1247G>C (p.Ter416Ser)
|
rs763212486
|
0.00001
|
NM_000434.4(NEU1):c.474T>G (p.Cys158Trp)
|
rs886061289
|
0.00001
|
NM_000434.4(NEU1):c.826G>A (p.Val276Ile)
|
rs199697301
|
0.00001
|
NM_000434.4(NEU1):c.888T>C (p.Tyr296=)
|
rs754422982
|
0.00001
|
NM_000434.4(NEU1):c.914G>A (p.Arg305His)
|
rs774362886
|
0.00001
|
NM_000458.4(HNF1B):c.*789T>C
|
rs886052887
|
0.00001
|
NM_000458.4(HNF1B):c.1117G>A (p.Ala373Thr)
|
rs759270956
|
0.00001
|
NM_000458.4(HNF1B):c.1305G>T (p.Met435Ile)
|
rs1199229728
|
0.00001
|
NM_000458.4(HNF1B):c.1630A>G (p.Thr544Ala)
|
rs1352906725
|
0.00001
|
NM_000458.4(HNF1B):c.268C>A (p.Pro90Thr)
|
rs772315985
|
0.00001
|
NM_000458.4(HNF1B):c.345-11T>G
|
rs200782591
|
0.00001
|
NM_000458.4(HNF1B):c.592A>C (p.Ser198Arg)
|
rs1321074352
|
0.00001
|
NM_000458.4(HNF1B):c.96G>A (p.Glu32=)
|
rs778229703
|
0.00001
|
NM_000507.4(FBP1):c.397G>A (p.Val133Ile)
|
rs368583779
|
0.00001
|
NM_000507.4(FBP1):c.443C>A (p.Pro148His)
|
rs753167849
|
0.00001
|
NM_000507.4(FBP1):c.668C>A (p.Ala223Asp)
|
rs369420846
|
0.00001
|
NM_000507.4(FBP1):c.705A>G (p.Pro235=)
|
rs112446147
|
0.00001
|
NM_000507.4(FBP1):c.731G>A (p.Arg244Gln)
|
rs775808681
|
0.00001
|
NM_000507.4(FBP1):c.889A>G (p.Thr297Ala)
|
rs758841300
|
0.00001
|
NM_000507.4(FBP1):c.916G>A (p.Val306Ile)
|
rs865779742
|
0.00001
|
NM_000507.4(FBP1):c.970G>A (p.Asp324Asn)
|
rs201508880
|
0.00001
|
NM_000507.4(FBP1):c.977T>C (p.Leu326Pro)
|
rs759227114
|
0.00001
|
NM_000507.4(FBP1):c.997G>A (p.Glu333Lys)
|
rs1564191912
|
0.00001
|
NM_000512.5(GALNS):c.*144T>C
|
rs1157099470
|
0.00001
|
NM_000512.5(GALNS):c.*186C>G
|
rs1032068378
|
0.00001
|
NM_000512.5(GALNS):c.*20C>G
|
rs886052454
|
0.00001
|
NM_000512.5(GALNS):c.*503T>G
|
rs573836350
|
0.00001
|
NM_000512.5(GALNS):c.*639T>G
|
rs1186947306
|
0.00001
|
NM_000512.5(GALNS):c.*86C>T
|
rs897826613
|
0.00001
|
NM_000512.5(GALNS):c.1003-10T>C
|
rs753249472
|
0.00001
|
NM_000512.5(GALNS):c.1008C>T (p.Ser336=)
|
rs886052456
|
0.00001
|
NM_000512.5(GALNS):c.1062C>T (p.Gly354=)
|
rs1910972322
|
0.00001
|
NM_000512.5(GALNS):c.1067C>T (p.Thr356Met)
|
rs1017572961
|
0.00001
|
NM_000512.5(GALNS):c.1105C>T (p.Leu369Phe)
|
rs368784505
|
0.00001
|
NM_000512.5(GALNS):c.1126C>T (p.Arg376Trp)
|
rs762690924
|
0.00001
|
NM_000512.5(GALNS):c.1164C>A (p.Asp388Glu)
|
rs752339162
|
0.00001
|
NM_000512.5(GALNS):c.121-31T>C
|
rs776895500
|
0.00001
|
NM_000512.5(GALNS):c.13G>A (p.Val5Ile)
|
rs1415400985
|
0.00001
|
NM_000512.5(GALNS):c.1441C>T (p.Pro481Ser)
|
rs781512359
|
0.00001
|
NM_000512.5(GALNS):c.1471T>C (p.Trp491Arg)
|
rs753344649
|
0.00001
|
NM_000512.5(GALNS):c.1480A>G (p.Met494Val)
|
rs1401175486
|
0.00001
|
NM_000512.5(GALNS):c.1483-15A>G
|
rs1461992033
|
0.00001
|
NM_000512.5(GALNS):c.1483A>T (p.Asn495Tyr)
|
rs1404888504
|
0.00001
|
NM_000512.5(GALNS):c.1492C>T (p.Pro498Ser)
|
rs1454253268
|
0.00001
|
NM_000512.5(GALNS):c.1498G>A (p.Gly500Ser)
|
rs1303492021
|
0.00001
|
NM_000512.5(GALNS):c.1520G>T (p.Cys507Phe)
|
rs398123433
|
0.00001
|
NM_000512.5(GALNS):c.1558T>C (p.Trp520Arg)
|
rs398123434
|
0.00001
|
NM_000512.5(GALNS):c.167C>A (p.Thr56Asn)
|
rs1967037775
|
0.00001
|
NM_000512.5(GALNS):c.241C>T (p.Pro81Ser)
|
rs765151762
|
0.00001
|
NM_000512.5(GALNS):c.244T>C (p.Ser82Pro)
|
rs1338871013
|
0.00001
|
NM_000512.5(GALNS):c.251C>T (p.Ala84Val)
|
rs141340188
|
0.00001
|
NM_000512.5(GALNS):c.278T>A (p.Ile93Asn)
|
rs1966993165
|
0.00001
|
NM_000512.5(GALNS):c.281G>A (p.Arg94His)
|
rs727503946
|
0.00001
|
NM_000512.5(GALNS):c.394G>A (p.Gly132Ser)
|
rs766859208
|
0.00001
|
NM_000512.5(GALNS):c.406A>C (p.Lys136Gln)
|
rs750953060
|
0.00001
|
NM_000512.5(GALNS):c.53G>C (p.Ser18Thr)
|
rs763093375
|
0.00001
|
NM_000512.5(GALNS):c.567-3C>T
|
rs549597016
|
0.00001
|
NM_000512.5(GALNS):c.578A>G (p.Glu193Gly)
|
rs1427663367
|
0.00001
|
NM_000512.5(GALNS):c.638C>T (p.Ala213Val)
|
rs770239604
|
0.00001
|
NM_000512.5(GALNS):c.641T>C (p.Leu214Pro)
|
rs771810111
|
0.00001
|
NM_000512.5(GALNS):c.66G>T (p.Met22Ile)
|
rs1427287935
|
0.00001
|
NM_000512.5(GALNS):c.757C>T (p.Arg253Trp)
|
rs775300515
|
0.00001
|
NM_000512.5(GALNS):c.758G>A (p.Arg253Gln)
|
rs769560969
|
0.00001
|
NM_000512.5(GALNS):c.759-3C>G
|
rs776430057
|
0.00001
|
NM_000512.5(GALNS):c.763G>A (p.Gly255Arg)
|
rs1336648211
|
0.00001
|
NM_000512.5(GALNS):c.764G>A (p.Gly255Glu)
|
rs1912009292
|
0.00001
|
NM_000512.5(GALNS):c.769G>A (p.Ala257Thr)
|
rs773283163
|
0.00001
|
NM_000512.5(GALNS):c.847G>A (p.Val283Ile)
|
rs772097990
|
0.00001
|
NM_000512.5(GALNS):c.898+4A>G
|
rs774518058
|
0.00001
|
NM_000512.5(GALNS):c.911G>T (p.Gly304Val)
|
rs758439379
|
0.00001
|
NM_000512.5(GALNS):c.947G>A (p.Gly316Glu)
|
rs1057518404
|
0.00001
|
NM_000512.5(GALNS):c.949G>A (p.Gly317Arg)
|
rs556060696
|
0.00001
|
NM_000512.5(GALNS):c.952A>T (p.Met318Leu)
|
rs537013895
|
0.00001
|
NM_000512.5(GALNS):c.988G>A (p.Val330Ile)
|
rs767856715
|
0.00001
|
NM_000512.5(GALNS):c.993T>C (p.Thr331=)
|
rs762154863
|
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.1016T>G (p.Val339Gly)
|
rs138125678
|
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.1077G>A (p.Leu359=)
|
rs777788092
|
0.00001
|
NM_000525.4(KCNJ11):c.1084G>A (p.Ala362Thr)
|
rs755839409
|
0.00001
|
NM_000525.4(KCNJ11):c.1094G>A (p.Arg365His)
|
rs750689750
|
0.00001
|
NM_000525.4(KCNJ11):c.1105C>T (p.Arg369Cys)
|
rs371275937
|
0.00001
|
NM_000525.4(KCNJ11):c.1106G>T (p.Arg369Leu)
|
rs114613745
|
0.00001
|
NM_000525.4(KCNJ11):c.1123A>G (p.Met375Val)
|
rs777540229
|
0.00001
|
NM_000525.4(KCNJ11):c.1172G>A (p.Ter391=)
|
rs1450567888
|
0.00001
|
NM_000525.4(KCNJ11):c.160C>T (p.Arg54Cys)
|
rs375848765
|
0.00001
|
NM_000525.4(KCNJ11):c.174C>T (p.Asp58=)
|
rs1237212288
|
0.00001
|
NM_000525.4(KCNJ11):c.185C>T (p.Thr62Met)
|
rs1057518775
|
0.00001
|
NM_000525.4(KCNJ11):c.291C>T (p.His97=)
|
rs371886780
|
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.463G>A (p.Val155Met)
|
rs587783668
|
0.00001
|
NM_000525.4(KCNJ11):c.480C>T (p.Asn160=)
|
rs568688504
|
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.561G>A (p.Ala187=)
|
rs1260020267
|
0.00001
|
NM_000525.4(KCNJ11):c.636C>T (p.Ser212=)
|
rs759487287
|
0.00001
|
NM_000525.4(KCNJ11):c.661C>T (p.Arg221Cys)
|
rs781450902
|
0.00001
|
NM_000525.4(KCNJ11):c.684C>T (p.Gly228=)
|
rs746308356
|
0.00001
|
NM_000525.4(KCNJ11):c.697C>A (p.Leu233Ile)
|
rs1564865302
|
0.00001
|
NM_000525.4(KCNJ11):c.719T>G (p.Met240Arg)
|
rs886042818
|
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.874G>A (p.Glu292Lys)
|
rs1174593640
|
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_000525.4(KCNJ11):c.992C>G (p.Ser331Cys)
|
rs763728797
|
0.00001
|
NM_000528.4(MAN2B1):c.-19A>G
|
rs886054234
|
0.00001
|
NM_000528.4(MAN2B1):c.1026+8C>T
|
rs199908179
|
0.00001
|
NM_000528.4(MAN2B1):c.1063A>C (p.Thr355Pro)
|
rs864621992
|
0.00001
|
NM_000528.4(MAN2B1):c.1067C>G (p.Pro356Arg)
|
rs121434333
|
0.00001
|
NM_000528.4(MAN2B1):c.1114G>T (p.Val372Leu)
|
rs745579139
|
0.00001
|
NM_000528.4(MAN2B1):c.1136C>T (p.Pro379Leu)
|
rs864621981
|
0.00001
|
NM_000528.4(MAN2B1):c.1142C>T (p.Ala381Val)
|
rs971436574
|
0.00001
|
NM_000528.4(MAN2B1):c.1230G>C (p.Gln410His)
|
rs563097824
|
0.00001
|
NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val)
|
rs772853856
|
0.00001
|
NM_000528.4(MAN2B1):c.1309A>G (p.Asn437Asp)
|
rs370036738
|
0.00001
|
NM_000528.4(MAN2B1):c.1313A>T (p.Glu438Val)
|
rs867708818
|
0.00001
|
NM_000528.4(MAN2B1):c.1337A>C (p.His446Pro)
|
rs1470391256
|
0.00001
|
NM_000528.4(MAN2B1):c.1345G>A (p.Val449Ile)
|
rs764898305
|
0.00001
|
NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys)
|
rs368899357
|
0.00001
|
NM_000528.4(MAN2B1):c.1420G>T (p.Val474Phe)
|
rs1276104443
|
0.00001
|
NM_000528.4(MAN2B1):c.1514A>G (p.Gln505Arg)
|
rs2023977189
|
0.00001
|
NM_000528.4(MAN2B1):c.1568A>C (p.Asn523Thr)
|
rs2023967508
|
0.00001
|
NM_000528.4(MAN2B1):c.1586C>T (p.Pro529Leu)
|
rs1330706618
|
0.00001
|
NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=)
|
rs747081586
|
0.00001
|
NM_000528.4(MAN2B1):c.1774G>A (p.Ala592Thr)
|
rs766021102
|
0.00001
|
NM_000528.4(MAN2B1):c.1889A>G (p.Asn630Ser)
|
rs539124424
|
0.00001
|
NM_000528.4(MAN2B1):c.1893G>T (p.Gln631His)
|
rs775247526
|
0.00001
|
NM_000528.4(MAN2B1):c.1945G>T (p.Gly649Cys)
|
rs1481077295
|
0.00001
|
NM_000528.4(MAN2B1):c.1954G>A (p.Glu652Lys)
|
rs756680048
|
0.00001
|
NM_000528.4(MAN2B1):c.1994A>T (p.Asn665Ile)
|
rs762894770
|
0.00001
|
NM_000528.4(MAN2B1):c.1_2del (p.Met1fs)
|
rs1290585382
|
0.00001
|
NM_000528.4(MAN2B1):c.2065G>A (p.Val689Met)
|
rs778745390
|
0.00001
|
NM_000528.4(MAN2B1):c.2101G>A (p.Val701Ile)
|
rs561720564
|
0.00001
|
NM_000528.4(MAN2B1):c.212C>T (p.Thr71Ile)
|
rs1458969193
|
0.00001
|
NM_000528.4(MAN2B1):c.218A>G (p.Asp73Gly)
|
rs781046464
|
0.00001
|
NM_000528.4(MAN2B1):c.2207C>T (p.Pro736Leu)
|
rs1270784757
|
0.00001
|
NM_000528.4(MAN2B1):c.2225G>A (p.Arg742His)
|
rs370551216
|
0.00001
|
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu)
|
rs746702002
|
0.00001
|
NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys)
|
rs772742355
|
0.00001
|
NM_000528.4(MAN2B1):c.2437-5C>G
|
rs200695002
|
0.00001
|
NM_000528.4(MAN2B1):c.2489T>C (p.Met830Thr)
|
rs1438173166
|
0.00001
|
NM_000528.4(MAN2B1):c.2509T>C (p.Trp837Arg)
|
rs760097655
|
0.00001
|
NM_000528.4(MAN2B1):c.2561C>T (p.Ala854Val)
|
rs775204651
|
0.00001
|
NM_000528.4(MAN2B1):c.2622T>C (p.Gly874=)
|
rs545541738
|
0.00001
|
NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=)
|
rs775212002
|
0.00001
|
NM_000528.4(MAN2B1):c.2671G>A (p.Gly891Arg)
|
rs864621988
|
0.00001
|
NM_000528.4(MAN2B1):c.26G>A (p.Gly9Glu)
|
rs1170799731
|
0.00001
|
NM_000528.4(MAN2B1):c.2737G>A (p.Val913Met)
|
rs929568109
|
0.00001
|
NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile)
|
rs755553683
|
0.00001
|
NM_000528.4(MAN2B1):c.2803G>A (p.Val935Ile)
|
rs765269491
|
0.00001
|
NM_000528.4(MAN2B1):c.2846C>T (p.Thr949Ile)
|
rs377567861
|
0.00001
|
NM_000528.4(MAN2B1):c.2856G>A (p.Gln952=)
|
rs1318861970
|
0.00001
|
NM_000528.4(MAN2B1):c.2885G>A (p.Arg962His)
|
rs750173812
|
0.00001
|
NM_000528.4(MAN2B1):c.2906A>G (p.Lys969Arg)
|
rs1323141015
|
0.00001
|
NM_000528.4(MAN2B1):c.2960C>T (p.Pro987Leu)
|
rs373174565
|
0.00001
|
NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=)
|
rs2023694204
|
0.00001
|
NM_000528.4(MAN2B1):c.309G>A (p.Ser103=)
|
rs1175779934
|
0.00001
|
NM_000528.4(MAN2B1):c.334C>T (p.Pro112Ser)
|
rs1312728452
|
0.00001
|
NM_000528.4(MAN2B1):c.436G>A (p.Gly146Arg)
|
rs767951916
|
0.00001
|
NM_000528.4(MAN2B1):c.469A>T (p.Met157Leu)
|
rs1216161567
|
0.00001
|
NM_000528.4(MAN2B1):c.475G>A (p.Asp159Asn)
|
rs864621976
|
0.00001
|
NM_000528.4(MAN2B1):c.50A>G (p.Asp17Gly)
|
rs755738320
|
0.00001
|
NM_000528.4(MAN2B1):c.55G>A (p.Ala19Thr)
|
rs1346520961
|
0.00001
|
NM_000528.4(MAN2B1):c.565C>A (p.Pro189Thr)
|
rs750137512
|
0.00001
|
NM_000528.4(MAN2B1):c.597C>T (p.Gly199=)
|
rs200872797
|
0.00001
|
NM_000528.4(MAN2B1):c.598C>A (p.His200Asn)
|
rs772108001
|
0.00001
|
NM_000528.4(MAN2B1):c.59G>A (p.Gly20Asp)
|
rs1220611493
|
0.00001
|
NM_000528.4(MAN2B1):c.602C>G (p.Ser201Cys)
|
rs776241681
|
0.00001
|
NM_000528.4(MAN2B1):c.619C>A (p.Leu207Met)
|
rs778300782
|
0.00001
|
NM_000528.4(MAN2B1):c.62C>A (p.Pro21His)
|
rs1408334891
|
0.00001
|
NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)
|
rs763257568
|
0.00001
|
NM_000528.4(MAN2B1):c.767T>G (p.Val256Gly)
|
rs1407251533
|
0.00001
|
NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu)
|
rs746808159
|
0.00001
|
NM_000528.4(MAN2B1):c.81C>T (p.Ala27=)
|
rs1407475487
|
0.00001
|
NM_000528.4(MAN2B1):c.830C>T (p.Pro277Leu)
|
rs779091097
|
0.00001
|
NM_000528.4(MAN2B1):c.843C>T (p.Asp281=)
|
rs886054232
|
0.00001
|
NM_000528.4(MAN2B1):c.855C>T (p.Pro285=)
|
rs139218045
|
0.00001
|
NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)
|
rs772562587
|
0.00001
|
NM_000528.4(MAN2B1):c.914G>A (p.Arg305Gln)
|
rs781394900
|
0.00001
|
NM_000528.4(MAN2B1):c.946A>G (p.Met316Val)
|
rs373636903
|
0.00001
|
NM_000528.4(MAN2B1):c.94C>A (p.Leu32Ile)
|
rs1471471874
|
0.00001
|
NM_000545.8(HNF1A):c.-4A>G
|
rs561269721
|
0.00001
|
NM_000545.8(HNF1A):c.1159C>T (p.His387Tyr)
|
rs1403526456
|
0.00001
|
NM_000545.8(HNF1A):c.140G>A (p.Gly47Glu)
|
rs1391743259
|
0.00001
|
NM_000545.8(HNF1A):c.1494C>A (p.Ser498Arg)
|
rs138145827
|
0.00001
|
NM_000545.8(HNF1A):c.1501G>A (p.Ala501Thr)
|
rs371807951
|
0.00001
|
NM_000545.8(HNF1A):c.1513C>A (p.His505Asn)
|
rs577078110
|
0.00001
|
NM_000545.8(HNF1A):c.1537A>T (p.Thr513Ser)
|
rs753702603
|
0.00001
|
NM_000545.8(HNF1A):c.1555C>T (p.Pro519Ser)
|
rs200639058
|
0.00001
|
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)
|
rs749673816
|
0.00001
|
NM_000545.8(HNF1A):c.1573A>T (p.Thr525Ser)
|
rs759717253
|
0.00001
|
NM_000545.8(HNF1A):c.1583C>T (p.Thr528Ile)
|
rs775608608
|
0.00001
|
NM_000545.8(HNF1A):c.1637A>C (p.Asp546Ala)
|
rs984428675
|
0.00001
|
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe)
|
rs193922587
|
0.00001
|
NM_000545.8(HNF1A):c.1695C>T (p.Leu565=)
|
rs762669462
|
0.00001
|
NM_000545.8(HNF1A):c.1699G>A (p.Val567Ile)
|
rs751368921
|
0.00001
|
NM_000545.8(HNF1A):c.1778G>C (p.Ser593Thr)
|
rs200120574
|
0.00001
|
NM_000545.8(HNF1A):c.1855G>A (p.Glu619Lys)
|
rs1316999782
|
0.00001
|
NM_000545.8(HNF1A):c.257T>A (p.Leu86His)
|
rs200442958
|
0.00001
|
NM_000545.8(HNF1A):c.340C>T (p.Arg114Cys)
|
rs774996577
|
0.00001
|
NM_000545.8(HNF1A):c.503G>A (p.Arg168His)
|
rs377110124
|
0.00001
|
NM_000545.8(HNF1A):c.50T>A (p.Leu17His)
|
rs1480672278
|
0.00001
|
NM_000545.8(HNF1A):c.557T>C (p.Ile186Thr)
|
rs587778396
|
0.00001
|
NM_000545.8(HNF1A):c.713+14C>T
|
rs193922601
|
0.00001
|
NM_000545.8(HNF1A):c.780G>A (p.Thr260=)
|
rs749633685
|
0.00001
|
NM_000545.8(HNF1A):c.865C>A (p.Pro289Thr)
|
rs765829022
|
0.00001
|
NM_000545.8(HNF1A):c.884C>T (p.Pro295Leu)
|
rs747958319
|
0.00001
|
NM_000545.8(HNF1A):c.901G>A (p.Ala301Thr)
|
rs555681479
|
0.00001
|
NM_000545.8(HNF1A):c.932C>A (p.Ala311Asp)
|
rs757574765
|
0.00001
|
NM_000642.3(AGL):c.*1047A>T
|
rs886044930
|
0.00001
|
NM_000642.3(AGL):c.*1860G>T
|
rs1433664193
|
0.00001
|
NM_000642.3(AGL):c.*1971T>C
|
rs139068984
|
0.00001
|
NM_000642.3(AGL):c.*229A>G
|
rs979215337
|
0.00001
|
NM_000642.3(AGL):c.*257C>A
|
rs1355749991
|
0.00001
|
NM_000642.3(AGL):c.*680T>A
|
rs886044928
|
0.00001
|
NM_000642.3(AGL):c.*682A>G
|
rs1177397896
|
0.00001
|
NM_000642.3(AGL):c.101G>A (p.Arg34Gln)
|
rs746265668
|
0.00001
|
NM_000642.3(AGL):c.1050G>A (p.Met350Ile)
|
rs140872573
|
0.00001
|
NM_000642.3(AGL):c.1064C>T (p.Thr355Met)
|
rs557516658
|
0.00001
|
NM_000642.3(AGL):c.1082+4T>A
|
rs781204563
|
0.00001
|
NM_000642.3(AGL):c.1172A>G (p.Tyr391Cys)
|
rs775949246
|
0.00001
|
NM_000642.3(AGL):c.1196G>A (p.Cys399Tyr)
|
rs1336333560
|
0.00001
|
NM_000642.3(AGL):c.1199T>C (p.Leu400Pro)
|
rs1275707003
|
0.00001
|
NM_000642.3(AGL):c.1235A>G (p.His412Arg)
|
rs762046235
|
0.00001
|
NM_000642.3(AGL):c.1241C>T (p.Pro414Leu)
|
rs758882822
|
0.00001
|
NM_000642.3(AGL):c.1255G>A (p.Val419Ile)
|
rs1236981513
|
0.00001
|
NM_000642.3(AGL):c.1283+5_1283+6insA
|
rs1651444028
|
0.00001
|
NM_000642.3(AGL):c.1284-12A>C
|
rs886044918
|
0.00001
|
NM_000642.3(AGL):c.1310T>G (p.Ile437Arg)
|
rs1382017908
|
0.00001
|
NM_000642.3(AGL):c.1372C>A (p.His458Asn)
|
rs1184815690
|
0.00001
|
NM_000642.3(AGL):c.1387A>G (p.Met463Val)
|
rs1557759698
|
0.00001
|
NM_000642.3(AGL):c.1388T>A (p.Met463Lys)
|
rs775358277
|
0.00001
|
NM_000642.3(AGL):c.1389G>A (p.Met463Ile)
|
rs749084039
|
0.00001
|
NM_000642.3(AGL):c.1424-7T>A
|
rs570061109
|
0.00001
|
NM_000642.3(AGL):c.1429G>C (p.Glu477Gln)
|
rs371406517
|
0.00001
|
NM_000642.3(AGL):c.1432G>A (p.Val478Ile)
|
rs527819721
|
0.00001
|
NM_000642.3(AGL):c.1484A>G (p.Tyr495Cys)
|
rs746119079
|
0.00001
|
NM_000642.3(AGL):c.151C>T (p.Pro51Ser)
|
rs367591347
|
0.00001
|
NM_000642.3(AGL):c.1541A>G (p.Glu514Gly)
|
rs766138863
|
0.00001
|
NM_000642.3(AGL):c.1553C>G (p.Thr518Ser)
|
rs1293030648
|
0.00001
|
NM_000642.3(AGL):c.1570C>T (p.Arg524Cys)
|
rs1267203580
|
0.00001
|
NM_000642.3(AGL):c.1577A>G (p.Asp526Gly)
|
rs777393482
|
0.00001
|
NM_000642.3(AGL):c.1650A>G (p.Leu550=)
|
rs778806512
|
0.00001
|
NM_000642.3(AGL):c.1651T>C (p.Tyr551His)
|
rs748270013
|
0.00001
|
NM_000642.3(AGL):c.1667T>C (p.Leu556Pro)
|
rs1367922922
|
0.00001
|
NM_000642.3(AGL):c.1679G>A (p.Ser560Asn)
|
rs1365513585
|
0.00001
|
NM_000642.3(AGL):c.1747G>A (p.Ala583Thr)
|
rs762347255
|
0.00001
|
NM_000642.3(AGL):c.1858C>G (p.Leu620Val)
|
rs200933503
|
0.00001
|
NM_000642.3(AGL):c.1874C>T (p.Thr625Met)
|
rs147569805
|
0.00001
|
NM_000642.3(AGL):c.187C>T (p.Arg63Cys)
|
rs778524671
|
0.00001
|
NM_000642.3(AGL):c.1889G>T (p.Cys630Phe)
|
rs757479682
|
0.00001
|
NM_000642.3(AGL):c.1899+3A>G
|
rs1461972561
|
0.00001
|
NM_000642.3(AGL):c.1909G>A (p.Ala637Thr)
|
rs372501843
|
0.00001
|
NM_000642.3(AGL):c.1910C>T (p.Ala637Val)
|
rs1488937187
|
0.00001
|
NM_000642.3(AGL):c.1939G>A (p.Val647Ile)
|
rs770836797
|
0.00001
|
NM_000642.3(AGL):c.1943C>G (p.Ser648Cys)
|
rs1229397880
|
0.00001
|
NM_000642.3(AGL):c.1963G>A (p.Gly655Arg)
|
rs1651984153
|
0.00001
|
NM_000642.3(AGL):c.1975G>A (p.Gly659Ser)
|
rs773274876
|
0.00001
|
NM_000642.3(AGL):c.1979A>C (p.Tyr660Ser)
|
rs188519129
|
0.00001
|
NM_000642.3(AGL):c.2001+3T>G
|
rs1392738838
|
0.00001
|
NM_000642.3(AGL):c.2002-5T>A
|
rs201718705
|
0.00001
|
NM_000642.3(AGL):c.2011G>A (p.Val671Ile)
|
rs1243258727
|
0.00001
|
NM_000642.3(AGL):c.2023C>T (p.Arg675Trp)
|
rs765749454
|
0.00001
|
NM_000642.3(AGL):c.2040G>T (p.Trp680Cys)
|
rs756760991
|
0.00001
|
NM_000642.3(AGL):c.2051C>T (p.Ala684Val)
|
rs1284824337
|
0.00001
|
NM_000642.3(AGL):c.2068G>T (p.Gly690Cys)
|
rs780205320
|
0.00001
|
NM_000642.3(AGL):c.209C>T (p.Pro70Leu)
|
rs1299427640
|
0.00001
|
NM_000642.3(AGL):c.2114T>C (p.Ile705Thr)
|
rs776037609
|
0.00001
|
NM_000642.3(AGL):c.2147G>A (p.Gly716Asp)
|
rs751975324
|
0.00001
|
NM_000642.3(AGL):c.2157+4A>T
|
rs1178861512
|
0.00001
|
NM_000642.3(AGL):c.2213G>T (p.Ser738Ile)
|
rs1652034728
|
0.00001
|
NM_000642.3(AGL):c.2220T>A (p.His740Gln)
|
rs767062664
|
0.00001
|
NM_000642.3(AGL):c.222A>T (p.Glu74Asp)
|
rs1264891129
|
0.00001
|
NM_000642.3(AGL):c.2270C>T (p.Ser757Leu)
|
rs746130741
|
0.00001
|
NM_000642.3(AGL):c.2308+4A>G
|
rs773741361
|
0.00001
|
NM_000642.3(AGL):c.2314A>C (p.Ile772Leu)
|
rs1237999305
|
0.00001
|
NM_000642.3(AGL):c.2347G>A (p.Glu783Lys)
|
rs769386639
|
0.00001
|
NM_000642.3(AGL):c.2366A>C (p.Tyr789Ser)
|
rs145720433
|
0.00001
|
NM_000642.3(AGL):c.239A>G (p.Tyr80Cys)
|
rs1284127927
|
0.00001
|
NM_000642.3(AGL):c.2441A>C (p.Glu814Ala)
|
rs1316494416
|
0.00001
|
NM_000642.3(AGL):c.2465G>C (p.Gly822Ala)
|
rs752820851
|
0.00001
|
NM_000642.3(AGL):c.248T>G (p.Leu83Arg)
|
rs560703902
|
0.00001
|
NM_000642.3(AGL):c.2576C>T (p.Ala859Val)
|
rs746800661
|
0.00001
|
NM_000642.3(AGL):c.2591G>A (p.Arg864Gln)
|
rs776599112
|
0.00001
|
NM_000642.3(AGL):c.2597A>T (p.His866Leu)
|
rs367713487
|
0.00001
|
NM_000642.3(AGL):c.25A>G (p.Ile9Val)
|
rs1263396578
|
0.00001
|
NM_000642.3(AGL):c.2648A>G (p.Asn883Ser)
|
rs754212372
|
0.00001
|
NM_000642.3(AGL):c.265G>T (p.Gly89Cys)
|
rs778448781
|
0.00001
|
NM_000642.3(AGL):c.2680T>C (p.Ser894Pro)
|
rs200856850
|
0.00001
|
NM_000642.3(AGL):c.2681C>T (p.Ser894Phe)
|
rs866082714
|
0.00001
|
NM_000642.3(AGL):c.2687C>G (p.Ala896Gly)
|
rs777099171
|
0.00001
|
NM_000642.3(AGL):c.2694A>T (p.Arg898Ser)
|
rs757076841
|
0.00001
|
NM_000642.3(AGL):c.2723T>G (p.Leu908Arg)
|
rs772347559
|
0.00001
|
NM_000642.3(AGL):c.2761G>A (p.Gly921Arg)
|
rs199868334
|
0.00001
|
NM_000642.3(AGL):c.2773A>G (p.Ile925Val)
|
rs763812355
|
0.00001
|
NM_000642.3(AGL):c.2798A>G (p.Tyr933Cys)
|
rs756888005
|
0.00001
|
NM_000642.3(AGL):c.2800G>A (p.Ala934Thr)
|
rs1652588223
|
0.00001
|
NM_000642.3(AGL):c.2905T>C (p.Tyr969His)
|
rs1336583652
|
0.00001
|
NM_000642.3(AGL):c.2917C>T (p.Arg973Trp)
|
rs370787356
|
0.00001
|
NM_000642.3(AGL):c.2921T>C (p.Leu974Pro)
|
rs1652882425
|
0.00001
|
NM_000642.3(AGL):c.2942T>C (p.Ile981Thr)
|
rs138333678
|
0.00001
|
NM_000642.3(AGL):c.2950G>A (p.Val984Ile)
|
rs1160721945
|
0.00001
|
NM_000642.3(AGL):c.2972T>C (p.Met991Thr)
|
rs1412424871
|
0.00001
|
NM_000642.3(AGL):c.3047C>G (p.Thr1016Ser)
|
rs1221645372
|
0.00001
|
NM_000642.3(AGL):c.3084-5T>G
|
rs886178367
|
0.00001
|
NM_000642.3(AGL):c.3103A>G (p.Thr1035Ala)
|
rs765807003
|
0.00001
|
NM_000642.3(AGL):c.3119T>C (p.Leu1040Pro)
|
rs900064421
|
0.00001
|
NM_000642.3(AGL):c.311G>T (p.Gly104Val)
|
rs371973678
|
0.00001
|
NM_000642.3(AGL):c.3149T>C (p.Val1050Ala)
|
rs1652977376
|
0.00001
|
NM_000642.3(AGL):c.3164C>G (p.Ser1055Cys)
|
rs749163043
|
0.00001
|
NM_000642.3(AGL):c.317A>T (p.Tyr106Phe)
|
rs201888023
|
0.00001
|
NM_000642.3(AGL):c.318C>T (p.Tyr106=)
|
rs376885398
|
0.00001
|
NM_000642.3(AGL):c.3259+3A>T
|
rs748859491
|
0.00001
|
NM_000642.3(AGL):c.3308C>G (p.Thr1103Ser)
|
rs765984761
|
0.00001
|
NM_000642.3(AGL):c.3316G>A (p.Ala1106Thr)
|
rs753449391
|
0.00001
|
NM_000642.3(AGL):c.3382G>A (p.Ala1128Thr)
|
rs1653752606
|
0.00001
|
NM_000642.3(AGL):c.3416T>G (p.Leu1139Arg)
|
rs1281040074
|
0.00001
|
NM_000642.3(AGL):c.3457G>A (p.Ala1153Thr)
|
rs1021861990
|
0.00001
|
NM_000642.3(AGL):c.3503T>A (p.Val1168Asp)
|
rs1247591998
|
0.00001
|
NM_000642.3(AGL):c.3551C>T (p.Pro1184Leu)
|
rs374498927
|
0.00001
|
NM_000642.3(AGL):c.3642C>T (p.Gly1214=)
|
rs1261746082
|
0.00001
|
NM_000642.3(AGL):c.367C>G (p.Pro123Ala)
|
rs372709840
|
0.00001
|
NM_000642.3(AGL):c.3683G>A (p.Arg1228Gln)
|
rs147214287
|
0.00001
|
NM_000642.3(AGL):c.3692A>G (p.Lys1231Arg)
|
rs750507211
|
0.00001
|
NM_000642.3(AGL):c.3709A>G (p.Ile1237Val)
|
rs1432839313
|
0.00001
|
NM_000642.3(AGL):c.3742G>A (p.Val1248Ile)
|
rs1240157988
|
0.00001
|
NM_000642.3(AGL):c.3746A>T (p.Tyr1249Phe)
|
rs1198709856
|
0.00001
|
NM_000642.3(AGL):c.3757C>A (p.Arg1253Ser)
|
rs375531470
|
0.00001
|
NM_000642.3(AGL):c.3762C>A (p.Phe1254Leu)
|
rs1324875747
|
0.00001
|
NM_000642.3(AGL):c.3771C>T (p.Gly1257=)
|
rs760738241
|
0.00001
|
NM_000642.3(AGL):c.3783T>G (p.Asp1261Glu)
|
rs771249925
|
0.00001
|
NM_000642.3(AGL):c.3812A>G (p.Asn1271Ser)
|
rs892629109
|
0.00001
|
NM_000642.3(AGL):c.3830C>T (p.Thr1277Ile)
|
rs751959174
|
0.00001
|
NM_000642.3(AGL):c.3836+4G>A
|
rs1488570554
|
0.00001
|
NM_000642.3(AGL):c.3840T>G (p.Asp1280Glu)
|
rs778956378
|
0.00001
|
NM_000642.3(AGL):c.3883C>T (p.Arg1295Cys)
|
rs1238498134
|
0.00001
|
NM_000642.3(AGL):c.3894G>A (p.Leu1298=)
|
rs769025250
|
0.00001
|
NM_000642.3(AGL):c.3913A>G (p.Ile1305Val)
|
rs1264514559
|
0.00001
|
NM_000642.3(AGL):c.3976G>A (p.Glu1326Lys)
|
rs1168287000
|
0.00001
|
NM_000642.3(AGL):c.4079G>A (p.Gly1360Asp)
|
rs1361507097
|
0.00001
|
NM_000642.3(AGL):c.40G>A (p.Glu14Lys)
|
rs749411087
|
0.00001
|
NM_000642.3(AGL):c.412G>A (p.Gly138Arg)
|
rs747039991
|
0.00001
|
NM_000642.3(AGL):c.413G>A (p.Gly138Glu)
|
rs773384152
|
0.00001
|
NM_000642.3(AGL):c.4163C>T (p.Ala1388Val)
|
rs752877022
|
0.00001
|
NM_000642.3(AGL):c.4184A>G (p.Glu1395Gly)
|
rs371446246
|
0.00001
|
NM_000642.3(AGL):c.4195A>G (p.Lys1399Glu)
|
rs772026557
|
0.00001
|
NM_000642.3(AGL):c.4255C>T (p.Pro1419Ser)
|
rs532926173
|
0.00001
|
NM_000642.3(AGL):c.4260-3C>T
|
rs1334595745
|
0.00001
|
NM_000642.3(AGL):c.4266G>T (p.Met1422Ile)
|
rs755347576
|
0.00001
|
NM_000642.3(AGL):c.4273T>C (p.Cys1425Arg)
|
rs777134108
|
0.00001
|
NM_000642.3(AGL):c.4301A>G (p.Asn1434Ser)
|
rs775357608
|
0.00001
|
NM_000642.3(AGL):c.4306A>C (p.Asn1436His)
|
rs372262923
|
0.00001
|
NM_000642.3(AGL):c.4313A>G (p.Asn1438Ser)
|
rs766592371
|
0.00001
|
NM_000642.3(AGL):c.4318G>A (p.Ala1440Thr)
|
rs754359314
|
0.00001
|
NM_000642.3(AGL):c.4341A>G (p.Gln1447=)
|
rs376486225
|
0.00001
|
NM_000642.3(AGL):c.4362T>C (p.Pro1454=)
|
rs886044922
|
0.00001
|
NM_000642.3(AGL):c.4363A>T (p.Ile1455Phe)
|
rs766952829
|
0.00001
|
NM_000642.3(AGL):c.4379G>A (p.Arg1460His)
|
rs546855663
|
0.00001
|
NM_000642.3(AGL):c.4412C>T (p.Pro1471Leu)
|
rs566536762
|
0.00001
|
NM_000642.3(AGL):c.4564A>G (p.Ile1522Val)
|
rs556986901
|
0.00001
|
NM_000642.3(AGL):c.4583C>T (p.Thr1528Ile)
|
rs769116515
|
0.00001
|
NM_000642.3(AGL):c.512C>T (p.Ser171Leu)
|
rs760243154
|
0.00001
|
NM_000642.3(AGL):c.515G>C (p.Cys172Ser)
|
rs766234642
|
0.00001
|
NM_000642.3(AGL):c.526G>A (p.Ala176Thr)
|
rs533806773
|
0.00001
|
NM_000642.3(AGL):c.598C>G (p.Leu200Val)
|
rs1171638572
|
0.00001
|
NM_000642.3(AGL):c.656A>G (p.Asn219Ser)
|
rs893488693
|
0.00001
|
NM_000642.3(AGL):c.665C>T (p.Ala222Val)
|
rs762643041
|
0.00001
|
NM_000642.3(AGL):c.681G>C (p.Trp227Cys)
|
rs753914653
|
0.00001
|
NM_000642.3(AGL):c.684C>T (p.Ile228=)
|
rs961563586
|
0.00001
|
NM_000642.3(AGL):c.689A>C (p.Glu230Ala)
|
rs1275008400
|
0.00001
|
NM_000642.3(AGL):c.719A>G (p.Asn240Ser)
|
rs1336588763
|
0.00001
|
NM_000642.3(AGL):c.775T>C (p.Cys259Arg)
|
rs891527554
|
0.00001
|
NM_000642.3(AGL):c.809G>A (p.Gly270Glu)
|
rs1466350775
|
0.00001
|
NM_000642.3(AGL):c.814C>A (p.Pro272Thr)
|
rs754177225
|
0.00001
|
NM_000642.3(AGL):c.818C>G (p.Ala273Gly)
|
rs943273443
|
0.00001
|
NM_000642.3(AGL):c.864T>G (p.Ile288Met)
|
rs771965730
|
0.00001
|
NM_000642.3(AGL):c.872A>G (p.Asp291Gly)
|
rs555262805
|
0.00001
|
NM_000642.3(AGL):c.885G>C (p.Lys295Asn)
|
rs778977370
|
0.00001
|
NM_000642.3(AGL):c.88G>A (p.Glu30Lys)
|
rs932386485
|
0.00001
|
NM_000642.3(AGL):c.8A>G (p.His3Arg)
|
rs752437446
|
0.00001
|
NM_000642.3(AGL):c.931G>A (p.Glu311Lys)
|
rs1553184646
|
0.00001
|
NM_000642.3(AGL):c.958+12A>G
|
rs1227779911
|
0.00001
|
NM_000642.3(AGL):c.996C>A (p.His332Gln)
|
rs780811320
|
0.00001
|
NM_000891.3(KCNJ2):c.*1030C>T
|
rs1310873825
|
0.00001
|
NM_000891.3(KCNJ2):c.*1361C>A
|
rs1191660760
|
0.00001
|
NM_000891.3(KCNJ2):c.*1412G>A
|
rs886053331
|
0.00001
|
NM_000891.3(KCNJ2):c.*3025G>A
|
rs536788614
|
0.00001
|
NM_000891.3(KCNJ2):c.*3352T>A
|
rs886053345
|
0.00001
|
NM_000891.3(KCNJ2):c.*39C>T
|
rs1196218333
|
0.00001
|
NM_000891.3(KCNJ2):c.*687A>C
|
rs886053329
|
0.00001
|
NM_000891.3(KCNJ2):c.-361G>C
|
rs984704301
|
0.00001
|
NM_000891.3(KCNJ2):c.102G>C (p.Lys34Asn)
|
rs1476737505
|
0.00001
|
NM_000891.3(KCNJ2):c.1115A>G (p.Asn372Ser)
|
rs1279418065
|
0.00001
|
NM_000891.3(KCNJ2):c.1207C>A (p.Pro403Thr)
|
rs752406680
|
0.00001
|
NM_000891.3(KCNJ2):c.1211C>G (p.Pro404Arg)
|
rs760459401
|
0.00001
|
NM_000891.3(KCNJ2):c.1268G>A (p.Arg423Gln)
|
rs745372216
|
0.00001
|
NM_000891.3(KCNJ2):c.14G>A (p.Arg5Gln)
|
rs764311511
|
0.00001
|
NM_000891.3(KCNJ2):c.179A>G (p.Asn60Ser)
|
rs1484750176
|
0.00001
|
NM_000891.3(KCNJ2):c.22C>T (p.Arg8Cys)
|
rs529080615
|
0.00001
|
NM_000891.3(KCNJ2):c.302G>T (p.Cys101Phe)
|
rs750630010
|
0.00001
|
NM_000891.3(KCNJ2):c.303T>C (p.Cys101=)
|
rs376921497
|
0.00001
|
NM_000891.3(KCNJ2):c.322C>G (p.Leu108Val)
|
rs371331394
|
0.00001
|
NM_000891.3(KCNJ2):c.389C>T (p.Thr130Met)
|
rs151168735
|
0.00001
|
NM_000891.3(KCNJ2):c.466A>G (p.Ile156Val)
|
rs767934529
|
0.00001
|
NM_000891.3(KCNJ2):c.476T>C (p.Phe159Ser)
|
rs1236228202
|
0.00001
|
NM_000891.3(KCNJ2):c.499G>A (p.Val167Met)
|
rs140147979
|
0.00001
|
NM_000891.3(KCNJ2):c.532G>A (p.Ala178Thr)
|
rs771965504
|
0.00001
|
NM_000891.3(KCNJ2):c.5_6insAAGTGTGCGAACCAACCGCTA (p.Val4_Ser10dup)
|
rs2074383942
|
0.00001
|
NM_000891.3(KCNJ2):c.604G>A (p.Ala202Thr)
|
rs759793133
|
0.00001
|
NM_000891.3(KCNJ2):c.694C>T (p.Leu232Phe)
|
rs779856198
|
0.00001
|
NM_000891.3(KCNJ2):c.752A>G (p.Asn251Ser)
|
rs1261477163
|
0.00001
|
NM_000891.3(KCNJ2):c.781A>G (p.Ile261Val)
|
rs774461588
|
0.00001
|
NM_000891.3(KCNJ2):c.845T>G (p.Leu282Trp)
|
rs758092571
|
0.00001
|
NM_000891.3(KCNJ2):c.859A>C (p.Ile287Leu)
|
rs758054840
|
0.00001
|
NM_000891.3(KCNJ2):c.868G>A (p.Ala290Thr)
|
rs895505794
|
0.00001
|
NM_000891.3(KCNJ2):c.883G>A (p.Val295Met)
|
rs2074389817
|
0.00001
|
NM_000891.3(KCNJ2):c.953A>G (p.Asn318Ser)
|
rs367560052
|
0.00001
|
NM_000891.3(KCNJ2):c.974G>A (p.Arg325His)
|
rs1555604000
|
0.00001
|
NM_000925.4(PDHB):c.*199T>G
|
rs886058777
|
0.00001
|
NM_000925.4(PDHB):c.*365T>A
|
rs1023863848
|
0.00001
|
NM_000925.4(PDHB):c.*77C>T
|
rs766780930
|
0.00001
|
NM_000925.4(PDHB):c.*7C>G
|
rs374476885
|
0.00001
|
NM_000925.4(PDHB):c.-12G>A
|
rs758352130
|
0.00001
|
NM_000925.4(PDHB):c.1069T>C (p.Leu357=)
|
rs768436316
|
0.00001
|
NM_000925.4(PDHB):c.11T>C (p.Val4Ala)
|
rs751921912
|
0.00001
|
NM_000925.4(PDHB):c.212G>A (p.Arg71Gln)
|
rs772939767
|
0.00001
|
NM_000925.4(PDHB):c.239A>G (p.Lys80Arg)
|
rs1455283629
|
0.00001
|
NM_000925.4(PDHB):c.45C>G (p.Val15=)
|
rs747916943
|
0.00001
|
NM_000925.4(PDHB):c.582C>G (p.Asn194Lys)
|
rs994015584
|
0.00001
|
NM_000925.4(PDHB):c.782T>C (p.Val261Ala)
|
rs761614417
|
0.00001
|
NM_000925.4(PDHB):c.826A>T (p.Met276Leu)
|
rs372743787
|
0.00001
|
NM_000925.4(PDHB):c.922A>G (p.Arg308Gly)
|
rs1237258897
|
0.00001
|
NM_001008216.2(GALE):c.-77+168T>G
|
rs924261949
|
0.00001
|
NM_001008216.2(GALE):c.1028G>C (p.Gly343Ala)
|
rs918539847
|
0.00001
|
NM_001008216.2(GALE):c.192G>A (p.Glu64=)
|
rs748354696
|
0.00001
|
NM_001008216.2(GALE):c.194T>C (p.Met65Thr)
|
rs781426540
|
0.00001
|
NM_001008216.2(GALE):c.238-6C>T
|
rs751079525
|
0.00001
|
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp)
|
rs1243531358
|
0.00001
|
NM_001008216.2(GALE):c.382G>A (p.Val128Met)
|
rs778887800
|
0.00001
|
NM_001008216.2(GALE):c.398C>T (p.Ala133Val)
|
rs727503944
|
0.00001
|
NM_001008216.2(GALE):c.449C>T (p.Thr150Met)
|
rs765353795
|
0.00001
|
NM_001008216.2(GALE):c.538G>A (p.Ala180Thr)
|
rs756590751
|
0.00001
|
NM_001008216.2(GALE):c.648G>A (p.Ala216=)
|
rs144723215
|
0.00001
|
NM_001008216.2(GALE):c.658C>T (p.Arg220Trp)
|
rs764909409
|
0.00001
|
NM_001008216.2(GALE):c.659G>C (p.Arg220Pro)
|
rs756780233
|
0.00001
|
NM_001008216.2(GALE):c.668T>C (p.Leu223Pro)
|
rs1457875051
|
0.00001
|
NM_001008216.2(GALE):c.710G>A (p.Gly237Asp)
|
rs756944736
|
0.00001
|
NM_001008216.2(GALE):c.899G>A (p.Arg300Gln)
|
rs1342042645
|
0.00001
|
NM_001008216.2(GALE):c.955G>C (p.Gly319Arg)
|
rs752384408
|
0.00001
|
NM_001008216.2(GALE):c.973G>A (p.Gly325Arg)
|
rs770436207
|
0.00001
|
NM_001040616.3(LINS1):c.1487T>C (p.Leu496Ser)
|
rs576126444
|
0.00001
|
NM_001040616.3(LINS1):c.661G>A (p.Asp221Asn)
|
rs1567718073
|
0.00001
|
NM_001040716.2(PC):c.*161C>T
|
rs886048554
|
0.00001
|
NM_001040716.2(PC):c.1-4C>A
|
rs1313846853
|
0.00001
|
NM_001040716.2(PC):c.1153C>T (p.Arg385Cys)
|
rs773109008
|
0.00001
|
NM_001040716.2(PC):c.1234G>A (p.Ala412Thr)
|
rs773645433
|
0.00001
|
NM_001040716.2(PC):c.127G>A (p.Ala43Thr)
|
rs756621649
|
0.00001
|
NM_001040716.2(PC):c.1524G>A (p.Met508Ile)
|
rs765499560
|
0.00001
|
NM_001040716.2(PC):c.1613C>T (p.Pro538Leu)
|
rs151174961
|
0.00001
|
NM_001040716.2(PC):c.1673G>A (p.Arg558Gln)
|
rs773005705
|
0.00001
|
NM_001040716.2(PC):c.1684G>C (p.Gly562Arg)
|
rs746060650
|
0.00001
|
NM_001040716.2(PC):c.1756G>A (p.Asp586Asn)
|
rs371922891
|
0.00001
|
NM_001040716.2(PC):c.1832C>T (p.Thr611Met)
|
rs757071897
|
0.00001
|
NM_001040716.2(PC):c.2024G>A (p.Arg675His)
|
rs375528540
|
0.00001
|
NM_001040716.2(PC):c.2365G>C (p.Ala789Pro)
|
rs1945435067
|
0.00001
|
NM_001040716.2(PC):c.2740G>A (p.Val914Met)
|
rs775626599
|
0.00001
|
NM_001040716.2(PC):c.2786C>G (p.Ala929Gly)
|
rs565678903
|
0.00001
|
NM_001040716.2(PC):c.3148-14C>T
|
rs773784306
|
0.00001
|
NM_001040716.2(PC):c.331G>A (p.Val111Ile)
|
rs753573264
|
0.00001
|
NM_001040716.2(PC):c.3364G>C (p.Asp1122His)
|
rs745961257
|
0.00001
|
NM_001040716.2(PC):c.374C>T (p.Ala125Val)
|
rs199678394
|
0.00001
|
NM_001040716.2(PC):c.467G>A (p.Arg156Gln)
|
rs119103241
|
0.00001
|
NM_001040716.2(PC):c.487+7A>G
|
rs766680971
|
0.00001
|
NM_001040716.2(PC):c.64G>A (p.Ala22Thr)
|
rs767170503
|
0.00001
|
NM_001040716.2(PC):c.679G>A (p.Ala227Thr)
|
rs773004288
|
0.00001
|
NM_001040716.2(PC):c.784G>A (p.Glu262Lys)
|
rs1324553572
|
0.00001
|
NM_001040716.2(PC):c.78C>A (p.Ser26=)
|
rs1161512784
|
0.00001
|
NM_001040716.2(PC):c.806G>A (p.Arg269Gln)
|
rs1349343839
|
0.00001
|
NM_001040716.2(PC):c.927C>T (p.Thr309=)
|
rs373717650
|
0.00001
|
NM_001041.4(SI):c.1057C>A (p.Leu353Ile)
|
rs539049352
|
0.00001
|
NM_001041.4(SI):c.1147-6T>A
|
rs146539849
|
0.00001
|
NM_001041.4(SI):c.118+11C>T
|
rs767898820
|
0.00001
|
NM_001041.4(SI):c.1217A>C (p.Asn406Thr)
|
rs777261367
|
0.00001
|
NM_001041.4(SI):c.1278+11A>G
|
rs756042084
|
0.00001
|
NM_001041.4(SI):c.1526T>C (p.Val509Ala)
|
rs551453053
|
0.00001
|
NM_001041.4(SI):c.1796C>T (p.Ala599Val)
|
rs747388124
|
0.00001
|
NM_001041.4(SI):c.2338A>G (p.Met780Val)
|
rs770724135
|
0.00001
|
NM_001041.4(SI):c.2455G>A (p.Ala819Thr)
|
rs542969966
|
0.00001
|
NM_001041.4(SI):c.2510C>T (p.Thr837Ile)
|
rs755263405
|
0.00001
|
NM_001041.4(SI):c.2681A>G (p.Glu894Gly)
|
rs756233137
|
0.00001
|
NM_001041.4(SI):c.2738T>C (p.Val913Ala)
|
rs1712193715
|
0.00001
|
NM_001041.4(SI):c.2985A>G (p.Ile995Met)
|
rs766550125
|
0.00001
|
NM_001041.4(SI):c.315G>T (p.Trp105Cys)
|
rs138564183
|
0.00001
|
NM_001041.4(SI):c.3236G>T (p.Arg1079Ile)
|
rs1307836828
|
0.00001
|
NM_001041.4(SI):c.3309G>A (p.Ser1103=)
|
rs765589827
|
0.00001
|
NM_001041.4(SI):c.3359C>T (p.Thr1120Ile)
|
rs140725570
|
0.00001
|
NM_001041.4(SI):c.3423+11A>G
|
rs770815174
|
0.00001
|
NM_001041.4(SI):c.3423+3A>G
|
rs766943944
|
0.00001
|
NM_001041.4(SI):c.3475G>A (p.Glu1159Lys)
|
rs966189337
|
0.00001
|
NM_001041.4(SI):c.3538A>G (p.Thr1180Ala)
|
rs753519683
|
0.00001
|
NM_001041.4(SI):c.4328T>C (p.Ile1443Thr)
|
rs761717351
|
0.00001
|
NM_001041.4(SI):c.4396C>A (p.Pro1466Thr)
|
rs796683088
|
0.00001
|
NM_001041.4(SI):c.5304G>A (p.Arg1768=)
|
rs772347173
|
0.00001
|
NM_001041.4(SI):c.580G>T (p.Val194Phe)
|
rs371768147
|
0.00001
|
NM_001041.4(SI):c.59T>A (p.Val20Asp)
|
rs771580575
|
0.00001
|
NM_001041.4(SI):c.611T>C (p.Ile204Thr)
|
rs377040463
|
0.00001
|
NM_001041.4(SI):c.952G>A (p.Gly318Ser)
|
rs749095854
|
0.00001
|
NM_001041.4(SI):c.963G>A (p.Leu321=)
|
rs562469691
|
0.00001
|
NM_001064.4(TKT):c.1540G>A (p.Glu514Lys)
|
rs762983878
|
0.00001
|
NM_001080510.5(METTL23):c.407+6T>C
|
rs1373087430
|
0.00001
|
NM_001160372.4(TRAPPC9):c.1625A>G (p.His542Arg)
|
rs149274458
|
0.00001
|
NM_001160372.4(TRAPPC9):c.166C>T (p.Arg56Cys)
|
rs1006238101
|
0.00001
|
NM_001160372.4(TRAPPC9):c.1948G>A (p.Val650Ile)
|
rs770244296
|
0.00001
|
NM_001160372.4(TRAPPC9):c.2551G>A (p.Val851Met)
|
rs1029565906
|
0.00001
|
NM_001160372.4(TRAPPC9):c.2597C>T (p.Pro866Leu)
|
rs199948844
|
0.00001
|
NM_001160372.4(TRAPPC9):c.2741C>T (p.Thr914Ile)
|
rs1339133695
|
0.00001
|
NM_001160372.4(TRAPPC9):c.3217C>T (p.His1073Tyr)
|
rs1459705932
|
0.00001
|
NM_001160372.4(TRAPPC9):c.3364G>A (p.Glu1122Lys)
|
rs767963216
|
0.00001
|
NM_001164277.2(SLC37A4):c.*138C>T
|
rs867580827
|
0.00001
|
NM_001164277.2(SLC37A4):c.*1A>G
|
rs782422570
|
0.00001
|
NM_001164277.2(SLC37A4):c.*283T>C
|
rs886047746
|
0.00001
|
NM_001164277.2(SLC37A4):c.*338T>C
|
rs1014083666
|
0.00001
|
NM_001164277.2(SLC37A4):c.-279C>T
|
rs886047752
|
0.00001
|
NM_001164277.2(SLC37A4):c.-499C>T
|
rs1236559416
|
0.00001
|
NM_001164277.2(SLC37A4):c.-50T>G
|
rs886047750
|
0.00001
|
NM_001164277.2(SLC37A4):c.-522G>A
|
rs1375919926
|
0.00001
|
NM_001164277.2(SLC37A4):c.-527C>T
|
rs1290401578
|
0.00001
|
NM_001164277.2(SLC37A4):c.1018T>G (p.Phe340Val)
|
rs1474838395
|
0.00001
|
NM_001164277.2(SLC37A4):c.1084T>G (p.Cys362Gly)
|
rs958173659
|
0.00001
|
NM_001164277.2(SLC37A4):c.1103T>C (p.Ile368Thr)
|
rs370696612
|
0.00001
|
NM_001164277.2(SLC37A4):c.1118C>G (p.Ala373Gly)
|
rs193302901
|
0.00001
|
NM_001164277.2(SLC37A4):c.1124+2dup
|
rs1459811938
|
0.00001
|
NM_001164277.2(SLC37A4):c.1125-6T>C
|
rs782323567
|
0.00001
|
NM_001164277.2(SLC37A4):c.1130G>A (p.Gly377Asp)
|
rs782665493
|
0.00001
|
NM_001164277.2(SLC37A4):c.1142G>C (p.Gly381Ala)
|
rs1157093654
|
0.00001
|
NM_001164277.2(SLC37A4):c.1208T>C (p.Ile403Thr)
|
rs1555190374
|
0.00001
|
NM_001164277.2(SLC37A4):c.1214C>T (p.Ala405Val)
|
rs782753044
|
0.00001
|
NM_001164277.2(SLC37A4):c.145T>G (p.Leu49Val)
|
rs1277675258
|
0.00001
|
NM_001164277.2(SLC37A4):c.149-3C>T
|
rs782625122
|
0.00001
|
NM_001164277.2(SLC37A4):c.149-6C>G
|
rs1407509189
|
0.00001
|
NM_001164277.2(SLC37A4):c.185T>G (p.Ile62Ser)
|
rs1555191621
|
0.00001
|
NM_001164277.2(SLC37A4):c.202G>T (p.Gly68Trp)
|
rs193302885
|
0.00001
|
NM_001164277.2(SLC37A4):c.21C>G (p.Gly7=)
|
rs370153031
|
0.00001
|
NM_001164277.2(SLC37A4):c.22T>C (p.Tyr8His)
|
rs782578166
|
0.00001
|
NM_001164277.2(SLC37A4):c.23A>G (p.Tyr8Cys)
|
rs782446107
|
0.00001
|
NM_001164277.2(SLC37A4):c.264C>T (p.Gly88=)
|
rs782292086
|
0.00001
|
NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)
|
rs121908976
|
0.00001
|
NM_001164277.2(SLC37A4):c.291C>G (p.Ser97Arg)
|
rs561054469
|
0.00001
|
NM_001164277.2(SLC37A4):c.297A>G (p.Thr99=)
|
rs1273132953
|
0.00001
|
NM_001164277.2(SLC37A4):c.310G>A (p.Ala104Thr)
|
rs781808875
|
0.00001
|
NM_001164277.2(SLC37A4):c.323T>C (p.Phe108Ser)
|
rs1210339491
|
0.00001
|
NM_001164277.2(SLC37A4):c.376C>T (p.Arg126Trp)
|
rs946341075
|
0.00001
|
NM_001164277.2(SLC37A4):c.433A>G (p.Met145Val)
|
rs863224210
|
0.00001
|
NM_001164277.2(SLC37A4):c.465G>C (p.Leu155=)
|
rs776272750
|
0.00001
|
NM_001164277.2(SLC37A4):c.479C>G (p.Ala160Gly)
|
rs1438731101
|
0.00001
|
NM_001164277.2(SLC37A4):c.503C>T (p.Thr168Met)
|
rs754982680
|
0.00001
|
NM_001164277.2(SLC37A4):c.578A>G (p.Asp193Gly)
|
rs777627677
|
0.00001
|
NM_001164277.2(SLC37A4):c.606G>T (p.Met202Ile)
|
rs764654621
|
0.00001
|
NM_001164277.2(SLC37A4):c.625G>C (p.Gly209Arg)
|
rs1272300904
|
0.00001
|
NM_001164277.2(SLC37A4):c.68T>A (p.Leu23Gln)
|
rs781982938
|
0.00001
|
NM_001164277.2(SLC37A4):c.761A>G (p.Glu254Gly)
|
rs781834348
|
0.00001
|
NM_001164277.2(SLC37A4):c.76T>C (p.Phe26Leu)
|
rs1468641405
|
0.00001
|
NM_001164277.2(SLC37A4):c.781G>A (p.Val261Ile)
|
rs561701030
|
0.00001
|
NM_001164277.2(SLC37A4):c.786-7A>G
|
rs781887799
|
0.00001
|
NM_001164277.2(SLC37A4):c.7G>C (p.Ala3Pro)
|
rs1555191906
|
0.00001
|
NM_001164277.2(SLC37A4):c.81T>A (p.Asn27Lys)
|
rs193302889
|
0.00001
|
NM_001164277.2(SLC37A4):c.833T>A (p.Ile278Asn)
|
rs193302900
|
0.00001
|
NM_001164277.2(SLC37A4):c.872-11T>C
|
rs1265857875
|
0.00001
|
NM_001164277.2(SLC37A4):c.872-6C>G
|
rs781985446
|
0.00001
|
NM_001164277.2(SLC37A4):c.886T>G (p.Tyr296Asp)
|
rs763008231
|
0.00001
|
NM_001164277.2(SLC37A4):c.923T>C (p.Met308Thr)
|
rs1555190738
|
0.00001
|
NM_001164277.2(SLC37A4):c.931A>G (p.Met311Val)
|
rs957014690
|
0.00001
|
NM_001164277.2(SLC37A4):c.93C>G (p.Phe31Leu)
|
rs955402383
|
0.00001
|
NM_001164277.2(SLC37A4):c.940T>C (p.Ser314Pro)
|
rs1365079218
|
0.00001
|
NM_001164277.2(SLC37A4):c.985+259G>C
|
rs1384684015
|
0.00001
|
NM_001164277.2(SLC37A4):c.985+271A>C
|
rs1313690608
|
0.00001
|
NM_001164277.2(SLC37A4):c.986-12T>C
|
rs1180556897
|
0.00001
|
NM_001164277.2(SLC37A4):c.986-15C>T
|
rs782640506
|
0.00001
|
NM_001164277.2(SLC37A4):c.986-8C>T
|
rs782425309
|
0.00001
|
NM_001164277.2(SLC37A4):c.989G>C (p.Trp330Ser)
|
rs782282206
|
0.00001
|
NM_001243177.4(ALDOA):c.1069G>A (p.Gly357Ser)
|
rs746068220
|
0.00001
|
NM_001243177.4(ALDOA):c.1120A>T (p.Asn374Tyr)
|
rs886051894
|
0.00001
|
NM_001243177.4(ALDOA):c.1134G>A (p.Ala378=)
|
rs530089317
|
0.00001
|
NM_001243177.4(ALDOA):c.217A>G (p.Ile73Val)
|
rs929389001
|
0.00001
|
NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys)
|
rs199852002
|
0.00001
|
NM_001243177.4(ALDOA):c.436C>T (p.Arg146Cys)
|
rs776187312
|
0.00001
|
NM_001243177.4(ALDOA):c.520A>G (p.Asn174Asp)
|
rs775705038
|
0.00001
|
NM_001243177.4(ALDOA):c.563G>A (p.Arg188His)
|
rs778814633
|
0.00001
|
NM_001243177.4(ALDOA):c.572A>T (p.Gln191Leu)
|
rs1283845684
|
0.00001
|
NM_001243177.4(ALDOA):c.644C>T (p.Ala215Val)
|
rs1463243958
|
0.00001
|
NM_001243177.4(ALDOA):c.821A>G (p.His274Arg)
|
rs760807537
|
0.00001
|
NM_001243177.4(ALDOA):c.937C>T (p.Arg313Cys)
|
rs779421883
|
0.00001
|
NM_001271838.2(RSRC1):c.11G>A (p.Arg4Gln)
|
rs749608883
|
0.00001
|
NM_001352514.2(HLCS):c.*1766G>A
|
rs537534748
|
0.00001
|
NM_001352514.2(HLCS):c.*2434G>T
|
rs886057062
|
0.00001
|
NM_001352514.2(HLCS):c.*2700C>T
|
rs140135359
|
0.00001
|
NM_001352514.2(HLCS):c.*2847G>A
|
rs1269300334
|
0.00001
|
NM_001352514.2(HLCS):c.*3043A>G
|
rs539444862
|
0.00001
|
NM_001352514.2(HLCS):c.*3209C>T
|
rs886057059
|
0.00001
|
NM_001352514.2(HLCS):c.*448G>C
|
rs772947158
|
0.00001
|
NM_001352514.2(HLCS):c.1192A>G (p.Thr398Ala)
|
rs1259711297
|
0.00001
|
NM_001352514.2(HLCS):c.1369G>A (p.Glu457Lys)
|
rs763927037
|
0.00001
|
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
|
rs148814769
|
0.00001
|
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)
|
rs1261821166
|
0.00001
|
NM_001352514.2(HLCS):c.1918A>G (p.Met640Val)
|
rs772156741
|
0.00001
|
NM_001352514.2(HLCS):c.1943G>A (p.Arg648Gln)
|
rs886057076
|
0.00001
|
NM_001352514.2(HLCS):c.1951G>A (p.Glu651Lys)
|
rs1035549573
|
0.00001
|
NM_001352514.2(HLCS):c.2076G>A (p.Met692Ile)
|
rs1460453809
|
0.00001
|
NM_001352514.2(HLCS):c.2135G>A (p.Arg712Gln)
|
rs769446135
|
0.00001
|
NM_001352514.2(HLCS):c.2225A>G (p.Tyr742Cys)
|
rs1464046978
|
0.00001
|
NM_001352514.2(HLCS):c.2266C>T (p.Pro756Ser)
|
rs1285498636
|
0.00001
|
NM_001352514.2(HLCS):c.2313C>G (p.His771Gln)
|
rs1376040224
|
0.00001
|
NM_001352514.2(HLCS):c.2339C>T (p.Ala780Val)
|
rs763760775
|
0.00001
|
NM_001352514.2(HLCS):c.2371C>G (p.Leu791Val)
|
rs748447457
|
0.00001
|
NM_001352514.2(HLCS):c.2443G>A (p.Val815Ile)
|
rs144116568
|
0.00001
|
NM_001352514.2(HLCS):c.2451-1G>A
|
rs1158898827
|
0.00001
|
NM_001352514.2(HLCS):c.2485C>A (p.Pro829Thr)
|
rs1417729542
|
0.00001
|
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala)
|
rs764148793
|
0.00001
|
NM_001352514.2(HLCS):c.2567C>T (p.Pro856Leu)
|
rs1260631800
|
0.00001
|
NM_001352514.2(HLCS):c.2568G>A (p.Pro856=)
|
rs745670538
|
0.00001
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
NM_001352514.2(HLCS):c.442A>G (p.Met148Val)
|
rs764841449
|
0.00001
|
NM_001352514.2(HLCS):c.445G>A (p.Glu149Lys)
|
rs148981273
|
0.00001
|
NM_001352514.2(HLCS):c.494-8T>A
|
rs778287214
|
0.00001
|
NM_001352514.2(HLCS):c.500A>G (p.His167Arg)
|
rs577182758
|
0.00001
|
NM_001352514.2(HLCS):c.529A>G (p.Lys177Glu)
|
rs759396333
|
0.00001
|
NM_001352514.2(HLCS):c.609C>T (p.Asp203=)
|
rs370118884
|
0.00001
|
NM_001352514.2(HLCS):c.723C>A (p.Gly241=)
|
rs886057077
|
0.00001
|
NM_001352514.2(HLCS):c.790A>G (p.Ile264Val)
|
rs1342427477
|
0.00001
|
NM_001352514.2(HLCS):c.840C>T (p.Tyr280=)
|
rs779907293
|
0.00001
|
NM_001352514.2(HLCS):c.970G>A (p.Gly324Ser)
|
rs574778377
|
0.00001
|
NM_001354741.2(PFKM):c.-81+1955A>G
|
rs755094329
|
0.00001
|
NM_001360016.2(G6PD):c.*535G>T
|
rs1057515820
|
0.00001
|
NM_001360016.2(G6PD):c.242G>A (p.Arg81His)
|
rs782308266
|
0.00001
|
NM_001360016.2(G6PD):c.251G>A (p.Ser84Asn)
|
rs141830127
|
0.00001
|
NM_001360016.2(G6PD):c.485+13G>A
|
rs781898381
|
0.00001
|
NM_001360016.2(G6PD):c.574C>T (p.Arg192Cys)
|
rs1557230370
|
0.00001
|
NM_001360016.2(G6PD):c.645-12C>T
|
rs1020037412
|
0.00001
|
NM_001360016.2(G6PD):c.660C>G (p.Ile220Met)
|
rs782771682
|
0.00001
|
NM_001360016.2(G6PD):c.775G>A (p.Val259Met)
|
rs782690505
|
0.00001
|
NM_001360016.2(G6PD):c.973G>A (p.Asp325Asn)
|
rs781906610
|
0.00001
|
NM_001365304.2(LOC112694756):c.*621+5G>A
|
rs774939475
|
0.00001
|
NM_001366110.1(PAX4):c.179G>A (p.Arg60His)
|
rs370095957
|
0.00001
|
NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln)
|
rs587780414
|
0.00001
|
NM_001366110.1(PAX4):c.771+6C>T
|
rs377152445
|
0.00001
|
NM_001370658.1(BTD):c.*57T>A
|
rs886058118
|
0.00001
|
NM_001370658.1(BTD):c.-59T>A
|
rs768258310
|
0.00001
|
NM_001370658.1(BTD):c.-74G>A
|
rs200884349
|
0.00001
|
NM_001370658.1(BTD):c.1013A>G (p.His338Arg)
|
rs1379845261
|
0.00001
|
NM_001370658.1(BTD):c.1043A>C (p.Asp348Ala)
|
rs886058115
|
0.00001
|
NM_001370658.1(BTD):c.1051T>C (p.Cys351Arg)
|
rs775369290
|
0.00001
|
NM_001370658.1(BTD):c.1112C>T (p.Pro371Leu)
|
rs375239909
|
0.00001
|
NM_001370658.1(BTD):c.1144A>G (p.Asn382Asp)
|
rs147188293
|
0.00001
|
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile)
|
rs397514405
|
0.00001
|
NM_001370658.1(BTD):c.1159C>T (p.Pro387Ser)
|
rs777799585
|
0.00001
|
NM_001370658.1(BTD):c.1189G>A (p.Val397Ile)
|
rs397514409
|
0.00001
|
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)
|
rs397514412
|
0.00001
|
NM_001370658.1(BTD):c.1246G>A (p.Glu416Lys)
|
rs749460715
|
0.00001
|
NM_001370658.1(BTD):c.1292G>A (p.Gly431Asp)
|
rs397514419
|
0.00001
|
NM_001370658.1(BTD):c.1333G>T (p.Gly445Cys)
|
rs746099217
|
0.00001
|
NM_001370658.1(BTD):c.1334G>T (p.Gly445Val)
|
rs1223614917
|
0.00001
|
NM_001370658.1(BTD):c.136C>A (p.Pro46Thr)
|
rs778785164
|
0.00001
|
NM_001370658.1(BTD):c.1379G>A (p.Gly460Glu)
|
rs558477960
|
0.00001
|
NM_001370658.1(BTD):c.140C>G (p.Ser47Cys)
|
rs747489101
|
0.00001
|
NM_001370658.1(BTD):c.1473G>C (p.Gln491His)
|
rs764375610
|
0.00001
|
NM_001370658.1(BTD):c.1543C>G (p.Leu515Val)
|
rs771537277
|
0.00001
|
NM_001370658.1(BTD):c.176G>A (p.Arg59His)
|
rs397514343
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.296A>G (p.Asn99Ser)
|
rs397514353
|
0.00001
|
NM_001370658.1(BTD):c.320C>T (p.Pro107Leu)
|
rs575787457
|
0.00001
|
NM_001370658.1(BTD):c.385T>C (p.Phe129Leu)
|
rs397514359
|
0.00001
|
NM_001370658.1(BTD):c.409C>T (p.Arg137Cys)
|
rs397514363
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)
|
rs397514364
|
0.00001
|
NM_001370658.1(BTD):c.455A>G (p.Asn152Ser)
|
rs397514366
|
0.00001
|
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly)
|
rs541012569
|
0.00001
|
NM_001370658.1(BTD):c.523A>G (p.Asn175Asp)
|
rs397514370
|
0.00001
|
NM_001370658.1(BTD):c.545A>G (p.Asn182Ser)
|
rs397514376
|
0.00001
|
NM_001370658.1(BTD):c.572G>A (p.Arg191His)
|
rs112195009
|
0.00001
|
NM_001370658.1(BTD):c.591T>G (p.Phe197Leu)
|
rs767750851
|
0.00001
|
NM_001370658.1(BTD):c.649G>A (p.Ala217Thr)
|
rs397514381
|
0.00001
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
NM_001370658.1(BTD):c.697C>T (p.Pro233Ser)
|
rs397514383
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_001370658.1(BTD):c.875G>A (p.Gly292Asp)
|
rs377651057
|
0.00001
|
NM_001370658.1(BTD):c.912C>G (p.Asp304Glu)
|
rs1449860088
|
0.00001
|
NM_001370658.1(BTD):c.917A>G (p.Glu306Gly)
|
rs747059644
|
0.00001
|
NM_001370658.1(BTD):c.944C>T (p.Ala315Val)
|
rs1465883743
|
0.00001
|
NM_001543.5(NDST1):c.388C>T (p.Arg130Cys)
|
rs746465319
|
0.00001
|
NM_001543.5(NDST1):c.883G>A (p.Val295Met)
|
rs747017483
|
0.00001
|
NM_001715.2(BLK):c.-267C>T
|
rs886062591
|
0.00001
|
NM_001715.2(BLK):c.-375G>A
|
rs886062590
|
0.00001
|
NM_001715.2(BLK):c.-484G>A
|
rs761744676
|
0.00001
|
NM_001715.3(BLK):c.*366G>A
|
rs977140703
|
0.00001
|
NM_001715.3(BLK):c.*461G>A
|
rs1204192053
|
0.00001
|
NM_001715.3(BLK):c.1046C>T (p.Ala349Val)
|
rs759976637
|
0.00001
|
NM_001715.3(BLK):c.1142T>C (p.Leu381Ser)
|
rs142803179
|
0.00001
|
NM_001715.3(BLK):c.1252G>A (p.Val418Met)
|
rs373565757
|
0.00001
|
NM_001715.3(BLK):c.1308C>T (p.Tyr436=)
|
rs886062596
|
0.00001
|
NM_001715.3(BLK):c.677A>C (p.Gln226Pro)
|
rs551088779
|
0.00001
|
NM_001715.3(BLK):c.892C>T (p.Arg298Ter)
|
rs745877998
|
0.00001
|
NM_001739.2(CA5A):c.110G>A (p.Arg37His)
|
rs775785856
|
0.00001
|
NM_001739.2(CA5A):c.235C>G (p.Gln79Glu)
|
rs773608071
|
0.00001
|
NM_001739.2(CA5A):c.412G>A (p.Glu138Lys)
|
rs747262976
|
0.00001
|
NM_001739.2(CA5A):c.427C>G (p.His143Asp)
|
rs1407821429
|
0.00001
|
NM_001739.2(CA5A):c.473A>C (p.His158Pro)
|
rs754607374
|
0.00001
|
NM_001739.2(CA5A):c.697T>C (p.Ser233Pro)
|
rs587777316
|
0.00001
|
NM_001807.6(CEL):c.217+34C>T
|
rs778382071
|
0.00001
|
NM_001931.5(DLAT):c.1202C>T (p.Pro401Leu)
|
rs781794850
|
0.00001
|
NM_001931.5(DLAT):c.1285C>A (p.Arg429Ser)
|
rs782233322
|
0.00001
|
NM_001931.5(DLAT):c.1399A>C (p.Ile467Leu)
|
rs1221769620
|
0.00001
|
NM_001931.5(DLAT):c.1447G>C (p.Ala483Pro)
|
rs1555181965
|
0.00001
|
NM_001931.5(DLAT):c.1535G>A (p.Ser512Asn)
|
rs113521778
|
0.00001
|
NM_001931.5(DLAT):c.1645A>G (p.Arg549Gly)
|
rs147456178
|
0.00001
|
NM_001931.5(DLAT):c.1664C>A (p.Pro555Gln)
|
rs1864460439
|
0.00001
|
NM_001931.5(DLAT):c.1669G>A (p.Glu557Lys)
|
rs1864460815
|
0.00001
|
NM_001931.5(DLAT):c.1677+4G>C
|
rs782793536
|
0.00001
|
NM_001931.5(DLAT):c.325G>A (p.Ala109Thr)
|
rs782271482
|
0.00001
|
NM_001931.5(DLAT):c.32A>C (p.Asn11Thr)
|
rs1035034726
|
0.00001
|
NM_001931.5(DLAT):c.343G>A (p.Glu115Lys)
|
rs200147835
|
0.00001
|
NM_001931.5(DLAT):c.381+5_381+6insC
|
rs782376838
|
0.00001
|
NM_001931.5(DLAT):c.381+6T>G
|
rs1555179251
|
0.00001
|
NM_001931.5(DLAT):c.898A>G (p.Ile300Val)
|
rs1198304536
|
0.00001
|
NM_001931.5(DLAT):c.983C>T (p.Ala328Val)
|
rs781861956
|
0.00001
|
NM_002076.3(GNS):c.-161T>C
|
rs769119181
|
0.00001
|
NM_002076.4(GNS):c.*1435G>A
|
rs547333907
|
0.00001
|
NM_002076.4(GNS):c.*2571T>C
|
rs995044057
|
0.00001
|
NM_002076.4(GNS):c.*2699G>C
|
rs867153534
|
0.00001
|
NM_002076.4(GNS):c.*334C>T
|
rs886049771
|
0.00001
|
NM_002076.4(GNS):c.*764G>A
|
rs886049767
|
0.00001
|
NM_002076.4(GNS):c.*826G>A
|
rs886049766
|
0.00001
|
NM_002076.4(GNS):c.*86A>T
|
rs1868866389
|
0.00001
|
NM_002076.4(GNS):c.*985A>G
|
rs531715804
|
0.00001
|
NM_002076.4(GNS):c.-83G>C
|
rs1290374156
|
0.00001
|
NM_002076.4(GNS):c.1104G>T (p.Leu368=)
|
rs766168524
|
0.00001
|
NM_002076.4(GNS):c.1147G>A (p.Gly383Ser)
|
rs756633427
|
0.00001
|
NM_002076.4(GNS):c.1204G>A (p.Gly402Ser)
|
rs1364524364
|
0.00001
|
NM_002076.4(GNS):c.1251A>G (p.Gln417=)
|
rs1324161117
|
0.00001
|
NM_002076.4(GNS):c.1261C>T (p.Arg421Cys)
|
rs1177531995
|
0.00001
|
NM_002076.4(GNS):c.1262G>A (p.Arg421His)
|
rs774084161
|
0.00001
|
NM_002076.4(GNS):c.1321G>A (p.Asp441Asn)
|
rs1345511245
|
0.00001
|
NM_002076.4(GNS):c.1452C>T (p.Asp484=)
|
rs1252524521
|
0.00001
|
NM_002076.4(GNS):c.1578C>T (p.Pro526=)
|
rs753472052
|
0.00001
|
NM_002076.4(GNS):c.1597C>T (p.Arg533Cys)
|
rs1430079019
|
0.00001
|
NM_002076.4(GNS):c.1603A>G (p.Met535Val)
|
rs1320846022
|
0.00001
|
NM_002076.4(GNS):c.160A>G (p.Thr54Ala)
|
rs768291103
|
0.00001
|
NM_002076.4(GNS):c.1616G>A (p.Arg539His)
|
rs766615352
|
0.00001
|
NM_002076.4(GNS):c.1634G>A (p.Arg545Gln)
|
rs756752200
|
0.00001
|
NM_002076.4(GNS):c.1658A>G (p.Ter553Trp)
|
rs766745346
|
0.00001
|
NM_002076.4(GNS):c.337A>G (p.Thr113Ala)
|
rs886049772
|
0.00001
|
NM_002076.4(GNS):c.531G>T (p.Lys177Asn)
|
rs1435047831
|
0.00001
|
NM_002076.4(GNS):c.653A>G (p.Tyr218Cys)
|
rs777980972
|
0.00001
|
NM_002076.4(GNS):c.682A>G (p.Met228Val)
|
rs1338194520
|
0.00001
|
NM_002076.4(GNS):c.73G>A (p.Ala25Thr)
|
rs540537083
|
0.00001
|
NM_002076.4(GNS):c.746A>C (p.Gln249Pro)
|
rs756406058
|
0.00001
|
NM_002076.4(GNS):c.850T>C (p.Phe284Leu)
|
rs978501400
|
0.00001
|
NM_002076.4(GNS):c.980A>G (p.Asn327Ser)
|
rs778927646
|
0.00001
|
NM_002103.5(GYS1):c.*110G>A
|
rs1008518917
|
0.00001
|
NM_002103.5(GYS1):c.*413G>A
|
rs1296511627
|
0.00001
|
NM_002103.5(GYS1):c.*472G>A
|
rs886054566
|
0.00001
|
NM_002103.5(GYS1):c.1012G>C (p.Gly338Arg)
|
rs1214342035
|
0.00001
|
NM_002103.5(GYS1):c.1021G>A (p.Val341Ile)
|
rs751121252
|
0.00001
|
NM_002103.5(GYS1):c.1043G>A (p.Arg348Gln)
|
rs767829857
|
0.00001
|
NM_002103.5(GYS1):c.1052A>G (p.Tyr351Cys)
|
rs769215150
|
0.00001
|
NM_002103.5(GYS1):c.1062+5G>A
|
rs199937247
|
0.00001
|
NM_002103.5(GYS1):c.1169+13C>T
|
rs775362871
|
0.00001
|
NM_002103.5(GYS1):c.1177G>A (p.Ala393Thr)
|
rs1234293707
|
0.00001
|
NM_002103.5(GYS1):c.117G>C (p.Lys39Asn)
|
rs1340897578
|
0.00001
|
NM_002103.5(GYS1):c.1184C>T (p.Thr395Met)
|
rs748765779
|
0.00001
|
NM_002103.5(GYS1):c.1242C>T (p.Pro414=)
|
rs751382433
|
0.00001
|
NM_002103.5(GYS1):c.1261G>C (p.Asp421His)
|
rs763908374
|
0.00001
|
NM_002103.5(GYS1):c.1308+5G>A
|
rs779587345
|
0.00001
|
NM_002103.5(GYS1):c.1318T>C (p.Phe440Leu)
|
rs756191455
|
0.00001
|
NM_002103.5(GYS1):c.135G>A (p.Thr45=)
|
rs558436703
|
0.00001
|
NM_002103.5(GYS1):c.1385G>A (p.Arg462Gln)
|
rs774914573
|
0.00001
|
NM_002103.5(GYS1):c.1475A>T (p.Asp492Val)
|
rs949286022
|
0.00001
|
NM_002103.5(GYS1):c.1493G>A (p.Arg498His)
|
rs757918424
|
0.00001
|
NM_002103.5(GYS1):c.1544C>T (p.Thr515Ile)
|
rs1395831465
|
0.00001
|
NM_002103.5(GYS1):c.1547C>T (p.Pro516Leu)
|
rs907999376
|
0.00001
|
NM_002103.5(GYS1):c.1548G>A (p.Pro516=)
|
rs1460204907
|
0.00001
|
NM_002103.5(GYS1):c.1594T>A (p.Ser532Thr)
|
rs2038555927
|
0.00001
|
NM_002103.5(GYS1):c.1624A>G (p.Ile542Val)
|
rs768029465
|
0.00001
|
NM_002103.5(GYS1):c.1718G>A (p.Ser573Asn)
|
rs1207102551
|
0.00001
|
NM_002103.5(GYS1):c.1810-14C>T
|
rs2038529046
|
0.00001
|
NM_002103.5(GYS1):c.1810T>A (p.Tyr604Asn)
|
rs2038528451
|
0.00001
|
NM_002103.5(GYS1):c.1834G>C (p.Ala612Pro)
|
rs763358013
|
0.00001
|
NM_002103.5(GYS1):c.1859A>G (p.His620Arg)
|
rs2038526603
|
0.00001
|
NM_002103.5(GYS1):c.1870G>A (p.Glu624Lys)
|
rs757274657
|
0.00001
|
NM_002103.5(GYS1):c.1872G>A (p.Glu624=)
|
rs1421512196
|
0.00001
|
NM_002103.5(GYS1):c.1910C>T (p.Pro637Leu)
|
rs2038521859
|
0.00001
|
NM_002103.5(GYS1):c.1961C>T (p.Pro654Leu)
|
rs886054569
|
0.00001
|
NM_002103.5(GYS1):c.1990C>T (p.Arg664Trp)
|
rs886054568
|
0.00001
|
NM_002103.5(GYS1):c.2008G>A (p.Glu670Lys)
|
rs1177489919
|
0.00001
|
NM_002103.5(GYS1):c.2009A>G (p.Glu670Gly)
|
rs1416976109
|
0.00001
|
NM_002103.5(GYS1):c.200C>T (p.Pro67Leu)
|
rs376369611
|
0.00001
|
NM_002103.5(GYS1):c.2012A>T (p.Asp671Val)
|
rs780892427
|
0.00001
|
NM_002103.5(GYS1):c.2017G>A (p.Glu673Lys)
|
rs1024472621
|
0.00001
|
NM_002103.5(GYS1):c.2027_2028del (p.Asp676fs)
|
rs2038518269
|
0.00001
|
NM_002103.5(GYS1):c.2038G>A (p.Glu680Lys)
|
rs754310863
|
0.00001
|
NM_002103.5(GYS1):c.2110A>G (p.Ser704Gly)
|
rs1201413420
|
0.00001
|
NM_002103.5(GYS1):c.216C>T (p.Gly72=)
|
rs773065230
|
0.00001
|
NM_002103.5(GYS1):c.217G>A (p.Val73Met)
|
rs370035815
|
0.00001
|
NM_002103.5(GYS1):c.21G>C (p.Leu7Phe)
|
rs1437155160
|
0.00001
|
NM_002103.5(GYS1):c.2203G>C (p.Glu735Gln)
|
rs546920953
|
0.00001
|
NM_002103.5(GYS1):c.2206C>T (p.Arg736Cys)
|
rs1369955206
|
0.00001
|
NM_002103.5(GYS1):c.2209A>T (p.Asn737Tyr)
|
rs1042146137
|
0.00001
|
NM_002103.5(GYS1):c.2214A>T (p.Ter738Tyr)
|
rs1310157370
|
0.00001
|
NM_002103.5(GYS1):c.278C>T (p.Ser93Phe)
|
rs754411503
|
0.00001
|
NM_002103.5(GYS1):c.300+3G>A
|
rs199823455
|
0.00001
|
NM_002103.5(GYS1):c.310G>A (p.Gly104Arg)
|
rs763807232
|
0.00001
|
NM_002103.5(GYS1):c.314G>A (p.Arg105His)
|
rs775388088
|
0.00001
|
NM_002103.5(GYS1):c.362C>T (p.Ala121Val)
|
rs778349716
|
0.00001
|
NM_002103.5(GYS1):c.383G>A (p.Arg128His)
|
rs755470149
|
0.00001
|
NM_002103.5(GYS1):c.418G>A (p.Gly140Arg)
|
rs754705699
|
0.00001
|
NM_002103.5(GYS1):c.448G>A (p.Asp150Asn)
|
rs548135246
|
0.00001
|
NM_002103.5(GYS1):c.505A>G (p.Ser169Gly)
|
rs2038838431
|
0.00001
|
NM_002103.5(GYS1):c.578C>T (p.Ala193Val)
|
rs750379099
|
0.00001
|
NM_002103.5(GYS1):c.581G>A (p.Arg194Gln)
|
rs1044957678
|
0.00001
|
NM_002103.5(GYS1):c.620C>T (p.Thr207Met)
|
rs760191000
|
0.00001
|
NM_002103.5(GYS1):c.683A>G (p.Asn228Ser)
|
rs761764430
|
0.00001
|
NM_002103.5(GYS1):c.754G>A (p.Ala252Thr)
|
rs376523274
|
0.00001
|
NM_002103.5(GYS1):c.760G>A (p.Val254Ile)
|
rs757728625
|
0.00001
|
NM_002103.5(GYS1):c.793G>A (p.Glu265Lys)
|
rs138606563
|
0.00001
|
NM_002103.5(GYS1):c.942-9G>A
|
rs762629200
|
0.00001
|
NM_002294.3(LAMP2):c.*238G>A
|
rs2058520973
|
0.00001
|
NM_002294.3(LAMP2):c.*3276C>T
|
rs1043524915
|
0.00001
|
NM_002294.3(LAMP2):c.1001A>G (p.Glu334Gly)
|
rs1319752625
|
0.00001
|
NM_002294.3(LAMP2):c.1006A>T (p.Thr336Ser)
|
rs1343337245
|
0.00001
|
NM_002294.3(LAMP2):c.1067A>G (p.Asn356Ser)
|
rs775416221
|
0.00001
|
NM_002294.3(LAMP2):c.1069G>A (p.Val357Met)
|
rs886038907
|
0.00001
|
NM_002294.3(LAMP2):c.10T>C (p.Phe4Leu)
|
rs1375151119
|
0.00001
|
NM_002294.3(LAMP2):c.178A>G (p.Thr60Ala)
|
rs1207512652
|
0.00001
|
NM_002294.3(LAMP2):c.188C>T (p.Thr63Ile)
|
rs1358581771
|
0.00001
|
NM_002294.3(LAMP2):c.205C>T (p.His69Tyr)
|
rs776875696
|
0.00001
|
NM_002294.3(LAMP2):c.209G>T (p.Gly70Val)
|
rs1340367353
|
0.00001
|
NM_002294.3(LAMP2):c.214G>A (p.Val72Met)
|
rs778193991
|
0.00001
|
NM_002294.3(LAMP2):c.23C>T (p.Pro8Leu)
|
rs878854484
|
0.00001
|
NM_002294.3(LAMP2):c.253G>A (p.Gly85Ser)
|
rs371149731
|
0.00001
|
NM_002294.3(LAMP2):c.373A>G (p.Thr125Ala)
|
rs748494547
|
0.00001
|
NM_002294.3(LAMP2):c.376T>C (p.Phe126Leu)
|
rs1921041200
|
0.00001
|
NM_002294.3(LAMP2):c.520C>A (p.Gln174Lys)
|
rs104894857
|
0.00001
|
NM_002294.3(LAMP2):c.556+13T>A
|
rs1380200946
|
0.00001
|
NM_002294.3(LAMP2):c.556+14A>G
|
rs1180149958
|
0.00001
|
NM_002294.3(LAMP2):c.566G>A (p.Cys189Tyr)
|
rs750457485
|
0.00001
|
NM_002294.3(LAMP2):c.572A>T (p.Lys191Ile)
|
rs767918596
|
0.00001
|
NM_002294.3(LAMP2):c.605A>C (p.His202Pro)
|
rs730880475
|
0.00001
|
NM_002294.3(LAMP2):c.611C>T (p.Thr204Ile)
|
rs1459886510
|
0.00001
|
NM_002294.3(LAMP2):c.697C>G (p.Leu233Val)
|
rs772577020
|
0.00001
|
NM_002294.3(LAMP2):c.709A>G (p.Met237Val)
|
rs746678211
|
0.00001
|
NM_002294.3(LAMP2):c.773C>T (p.Thr258Ile)
|
rs111703410
|
0.00001
|
NM_002294.3(LAMP2):c.805A>G (p.Thr269Ala)
|
rs1131691290
|
0.00001
|
NM_002294.3(LAMP2):c.958T>A (p.Tyr320Asn)
|
rs1271107737
|
0.00001
|
NM_002294.3(LAMP2):c.980G>T (p.Ser327Ile)
|
rs960241982
|
0.00001
|
NM_002299.4(LCT):c.*275A>G
|
rs1008625417
|
0.00001
|
NM_002299.4(LCT):c.1004C>G (p.Thr335Ser)
|
rs1428765941
|
0.00001
|
NM_002299.4(LCT):c.1116G>A (p.Ala372=)
|
rs200277615
|
0.00001
|
NM_002299.4(LCT):c.1902C>T (p.Pro634=)
|
rs202014246
|
0.00001
|
NM_002299.4(LCT):c.1931C>T (p.Thr644Ile)
|
rs546741050
|
0.00001
|
NM_002299.4(LCT):c.2177G>A (p.Arg726His)
|
rs886054866
|
0.00001
|
NM_002299.4(LCT):c.280G>A (p.Ala94Thr)
|
rs139740186
|
0.00001
|
NM_002299.4(LCT):c.319G>A (p.Glu107Lys)
|
rs761296720
|
0.00001
|
NM_002299.4(LCT):c.3483C>T (p.Asn1161=)
|
rs143927262
|
0.00001
|
NM_002299.4(LCT):c.3599C>T (p.Thr1200Met)
|
rs148317168
|
0.00001
|
NM_002299.4(LCT):c.4922T>C (p.Val1641Ala)
|
rs557029000
|
0.00001
|
NM_002299.4(LCT):c.5529C>T (p.Pro1843=)
|
rs761696901
|
0.00001
|
NM_002299.4(LCT):c.5655C>T (p.Tyr1885=)
|
rs1483785677
|
0.00001
|
NM_002299.4(LCT):c.5771T>C (p.Val1924Ala)
|
rs886054861
|
0.00001
|
NM_002299.4(LCT):c.643G>A (p.Gly215Arg)
|
rs886054869
|
0.00001
|
NM_002299.4(LCT):c.677T>C (p.Ile226Thr)
|
rs747805112
|
0.00001
|
NM_002300.8(LDHB):c.129+11A>G
|
rs886049166
|
0.00001
|
NM_002300.8(LDHB):c.421+7T>C
|
rs375249355
|
0.00001
|
NM_002300.8(LDHB):c.422-10A>G
|
rs886049165
|
0.00001
|
NM_002300.8(LDHB):c.727A>G (p.Ile243Val)
|
rs750220072
|
0.00001
|
NM_002300.8(LDHB):c.826A>G (p.Thr276Ala)
|
rs200158121
|
0.00001
|
NM_002500.4(NEUROD1):c.*1583T>C
|
rs1035423254
|
0.00001
|
NM_002500.4(NEUROD1):c.-102G>A
|
rs886055328
|
0.00001
|
NM_002500.5(NEUROD1):c.*370_*371insT
|
rs886055326
|
0.00001
|
NM_002500.5(NEUROD1):c.1055C>A (p.Ala352Asp)
|
rs774325551
|
0.00001
|
NM_002500.5(NEUROD1):c.37G>A (p.Glu13Lys)
|
rs763871039
|
0.00001
|
NM_002500.5(NEUROD1):c.418A>G (p.Ile140Val)
|
rs369575066
|
0.00001
|
NM_002500.5(NEUROD1):c.473G>A (p.Arg158His)
|
rs1422349580
|
0.00001
|
NM_002500.5(NEUROD1):c.761A>C (p.Glu254Ala)
|
rs767219230
|
0.00001
|
NM_002500.5(NEUROD1):c.79C>T (p.Leu27Phe)
|
rs766645933
|
0.00001
|
NM_002500.5(NEUROD1):c.841G>T (p.Gly281Cys)
|
rs1284904822
|
0.00001
|
NM_002591.4(PCK1):c.*528C>G
|
rs886056803
|
0.00001
|
NM_002591.4(PCK1):c.407-11G>A
|
rs775923881
|
0.00001
|
NM_002637.4(PHKA1):c.1136G>A (p.Arg379Lys)
|
rs782491605
|
0.00001
|
NM_002637.4(PHKA1):c.1214C>T (p.Ser405Phe)
|
rs199582889
|
0.00001
|
NM_002637.4(PHKA1):c.1318G>A (p.Val440Ile)
|
rs782651487
|
0.00001
|
NM_002637.4(PHKA1):c.1348G>A (p.Glu450Lys)
|
rs782310573
|
0.00001
|
NM_002637.4(PHKA1):c.1384G>A (p.Val462Met)
|
rs782400389
|
0.00001
|
NM_002637.4(PHKA1):c.1459+4A>G
|
rs1203297354
|
0.00001
|
NM_002637.4(PHKA1):c.1698C>A (p.Ile566=)
|
rs369728544
|
0.00001
|
NM_002637.4(PHKA1):c.2404C>T (p.Arg802Trp)
|
rs782789642
|
0.00001
|
NM_002637.4(PHKA1):c.2912G>A (p.Arg971Gln)
|
rs782702439
|
0.00001
|
NM_002637.4(PHKA1):c.3034-6T>A
|
rs199530028
|
0.00001
|
NM_002637.4(PHKA1):c.3043C>T (p.Arg1015Cys)
|
rs782191011
|
0.00001
|
NM_002637.4(PHKA1):c.3170G>A (p.Arg1057Gln)
|
rs184743934
|
0.00001
|
NM_002637.4(PHKA1):c.3250G>A (p.Gly1084Arg)
|
rs1181595611
|
0.00001
|
NM_002637.4(PHKA1):c.3331G>A (p.Val1111Met)
|
rs782099054
|
0.00001
|
NM_002637.4(PHKA1):c.3550A>G (p.Ile1184Val)
|
rs1162142066
|
0.00001
|
NM_002637.4(PHKA1):c.3626C>T (p.Thr1209Ile)
|
rs782528795
|
0.00001
|
NM_002637.4(PHKA1):c.44C>G (p.Ala15Gly)
|
rs782659023
|
0.00001
|
NM_002637.4(PHKA1):c.835A>G (p.Thr279Ala)
|
rs1185410324
|
0.00001
|
NM_002863.5(PYGL):c.1396A>G (p.Thr466Ala)
|
rs2050436450
|
0.00001
|
NM_002863.5(PYGL):c.1403T>A (p.Val468Glu)
|
rs143571464
|
0.00001
|
NM_002863.5(PYGL):c.1454A>G (p.Asn485Ser)
|
rs138888959
|
0.00001
|
NM_002863.5(PYGL):c.1463C>G (p.Thr488Ser)
|
rs202149628
|
0.00001
|
NM_002863.5(PYGL):c.1748A>G (p.His583Arg)
|
rs375136222
|
0.00001
|
NM_002863.5(PYGL):c.2182G>A (p.Glu728Lys)
|
rs535447490
|
0.00001
|
NM_002863.5(PYGL):c.2380-15A>G
|
rs886050537
|
0.00001
|
NM_002863.5(PYGL):c.2481C>T (p.Asn827=)
|
rs755274555
|
0.00001
|
NM_002863.5(PYGL):c.275T>C (p.Met92Thr)
|
rs767745350
|
0.00001
|
NM_002863.5(PYGL):c.298A>G (p.Met100Val)
|
rs1273055538
|
0.00001
|
NM_002863.5(PYGL):c.401A>G (p.Asn134Ser)
|
rs780574052
|
0.00001
|
NM_002863.5(PYGL):c.481C>T (p.Arg161Trp)
|
rs749811385
|
0.00001
|
NM_002863.5(PYGL):c.704T>C (p.Met235Thr)
|
rs200920293
|
0.00001
|
NM_002863.5(PYGL):c.809G>A (p.Arg270Gln)
|
rs755488866
|
0.00001
|
NM_002863.5(PYGL):c.910A>G (p.Thr304Ala)
|
rs774143179
|
0.00001
|
NM_003041.4(SLC5A2):c.1007G>A (p.Arg336His)
|
rs779993355
|
0.00001
|
NM_003041.4(SLC5A2):c.1021+14C>T
|
rs1349979357
|
0.00001
|
NM_003041.4(SLC5A2):c.1130G>C (p.Gly377Ala)
|
rs534057160
|
0.00001
|
NM_003041.4(SLC5A2):c.1137C>T (p.Arg379=)
|
rs761863294
|
0.00001
|
NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys)
|
rs907643541
|
0.00001
|
NM_003041.4(SLC5A2):c.1449+13C>A
|
rs769589113
|
0.00001
|
NM_003041.4(SLC5A2):c.1719G>T (p.Leu573=)
|
rs767926604
|
0.00001
|
NM_003041.4(SLC5A2):c.1792+12T>C
|
rs886051963
|
0.00001
|
NM_003041.4(SLC5A2):c.1844G>C (p.Cys615Ser)
|
rs201073991
|
0.00001
|
NM_003041.4(SLC5A2):c.1845T>C (p.Cys615=)
|
rs755803144
|
0.00001
|
NM_003041.4(SLC5A2):c.1982T>C (p.Met661Thr)
|
rs775638719
|
0.00001
|
NM_003041.4(SLC5A2):c.227T>A (p.Ile76Asn)
|
rs762905275
|
0.00001
|
NM_003041.4(SLC5A2):c.371C>T (p.Thr124Met)
|
rs771307472
|
0.00001
|
NM_003041.4(SLC5A2):c.389G>A (p.Arg130His)
|
rs886051960
|
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.540T>C (p.Ile180=)
|
rs775755027
|
0.00001
|
NM_003051.4(SLC16A1):c.680A>G (p.His227Arg)
|
rs549501840
|
0.00001
|
NM_003384.3(VRK1):c.*281G>A
|
rs1889257279
|
0.00001
|
NM_003384.3(VRK1):c.*302T>C
|
rs1294884447
|
0.00001
|
NM_003384.3(VRK1):c.1064C>G (p.Thr355Arg)
|
rs1322207018
|
0.00001
|
NM_003384.3(VRK1):c.1099G>C (p.Glu367Gln)
|
rs145241983
|
0.00001
|
NM_003384.3(VRK1):c.1142A>G (p.Glu381Gly)
|
rs549505565
|
0.00001
|
NM_003384.3(VRK1):c.1159+5G>C
|
rs372052354
|
0.00001
|
NM_003384.3(VRK1):c.1159C>T (p.Arg387Cys)
|
rs149083861
|
0.00001
|
NM_003384.3(VRK1):c.1166G>A (p.Arg389Lys)
|
rs766501031
|
0.00001
|
NM_003384.3(VRK1):c.1175A>G (p.Lys392Arg)
|
rs759541730
|
0.00001
|
NM_003384.3(VRK1):c.127A>G (p.Ile43Val)
|
rs777420974
|
0.00001
|
NM_003384.3(VRK1):c.134A>G (p.Gln45Arg)
|
rs1372198425
|
0.00001
|
NM_003384.3(VRK1):c.151A>G (p.Ile51Val)
|
rs1237038231
|
0.00001
|
NM_003384.3(VRK1):c.176C>T (p.Ser59Leu)
|
rs1474265077
|
0.00001
|
NM_003384.3(VRK1):c.203G>A (p.Cys68Tyr)
|
rs768889718
|
0.00001
|
NM_003384.3(VRK1):c.302G>A (p.Arg101His)
|
rs372646027
|
0.00001
|
NM_003384.3(VRK1):c.362A>G (p.Lys121Arg)
|
rs1064796973
|
0.00001
|
NM_003384.3(VRK1):c.397C>T (p.Arg133Cys)
|
rs387906830
|
0.00001
|
NM_003384.3(VRK1):c.398G>A (p.Arg133His)
|
rs758978677
|
0.00001
|
NM_003384.3(VRK1):c.466C>A (p.Gln156Lys)
|
rs201936978
|
0.00001
|
NM_003384.3(VRK1):c.533T>C (p.Ile178Thr)
|
rs1888016669
|
0.00001
|
NM_003384.3(VRK1):c.550C>T (p.Leu184Phe)
|
rs1452833653
|
0.00001
|
NM_003384.3(VRK1):c.576+9A>G
|
rs978347799
|
0.00001
|
NM_003384.3(VRK1):c.577-4A>G
|
rs1194395636
|
0.00001
|
NM_003384.3(VRK1):c.583T>G (p.Leu195Val)
|
rs779770049
|
0.00001
|
NM_003384.3(VRK1):c.607C>T (p.Arg203Trp)
|
rs144600646
|
0.00001
|
NM_003384.3(VRK1):c.704G>A (p.Gly235Asp)
|
rs1311364931
|
0.00001
|
NM_003384.3(VRK1):c.721C>T (p.Arg241Cys)
|
rs141703130
|
0.00001
|
NM_003384.3(VRK1):c.733G>C (p.Glu245Gln)
|
rs1200170208
|
0.00001
|
NM_003384.3(VRK1):c.772C>T (p.His258Tyr)
|
rs761905254
|
0.00001
|
NM_003384.3(VRK1):c.7C>T (p.Arg3Cys)
|
rs747692654
|
0.00001
|
NM_003384.3(VRK1):c.828T>C (p.Ile276=)
|
rs1334577291
|
0.00001
|
NM_003384.3(VRK1):c.82A>G (p.Ile28Val)
|
rs1210199221
|
0.00001
|
NM_003384.3(VRK1):c.830+10A>G
|
rs544437757
|
0.00001
|
NM_003384.3(VRK1):c.860A>G (p.Asp287Gly)
|
rs1449338678
|
0.00001
|
NM_003384.3(VRK1):c.863A>G (p.Lys288Arg)
|
rs1310616396
|
0.00001
|
NM_003384.3(VRK1):c.884A>G (p.Lys295Arg)
|
rs1340163417
|
0.00001
|
NM_003384.3(VRK1):c.889+4G>C
|
rs761286112
|
0.00001
|
NM_003477.3(PDHX):c.*742C>T
|
rs577566893
|
0.00001
|
NM_003477.3(PDHX):c.-7C>T
|
rs751680964
|
0.00001
|
NM_003477.3(PDHX):c.1034A>T (p.Asp345Val)
|
rs556425857
|
0.00001
|
NM_003477.3(PDHX):c.1164A>G (p.Glu388=)
|
rs766725349
|
0.00001
|
NM_003477.3(PDHX):c.1450A>G (p.Thr484Ala)
|
rs748511132
|
0.00001
|
NM_003477.3(PDHX):c.44G>A (p.Arg15His)
|
rs387906998
|
0.00001
|
NM_003597.5(KLF11):c.*131G>A
|
rs545836068
|
0.00001
|
NM_003597.5(KLF11):c.*1463A>G
|
rs1572448681
|
0.00001
|
NM_003597.5(KLF11):c.*1636C>T
|
rs886054735
|
0.00001
|
NM_003597.5(KLF11):c.*1725G>C
|
rs374263399
|
0.00001
|
NM_003597.5(KLF11):c.*2103G>A
|
rs1056465665
|
0.00001
|
NM_003597.5(KLF11):c.-31G>A
|
rs886054721
|
0.00001
|
NM_003597.5(KLF11):c.1046C>T (p.Pro349Leu)
|
rs886054723
|
0.00001
|
NM_003597.5(KLF11):c.1049C>T (p.Pro350Leu)
|
rs775364750
|
0.00001
|
NM_003597.5(KLF11):c.1486G>A (p.Ala496Thr)
|
rs868399686
|
0.00001
|
NM_003597.5(KLF11):c.18C>T (p.Phe6=)
|
rs886054722
|
0.00001
|
NM_003597.5(KLF11):c.259A>G (p.Met87Val)
|
rs757905542
|
0.00001
|
NM_003597.5(KLF11):c.25C>T (p.Pro9Ser)
|
rs1377863567
|
0.00001
|
NM_003597.5(KLF11):c.501C>T (p.Pro167=)
|
rs377399356
|
0.00001
|
NM_003597.5(KLF11):c.928T>C (p.Ser310Pro)
|
rs759266535
|
0.00001
|
NM_003619.4(PRSS12):c.*1435A>G
|
rs1247361243
|
0.00001
|
NM_003619.4(PRSS12):c.*1499A>G
|
rs748542086
|
0.00001
|
NM_003619.4(PRSS12):c.*658C>T
|
rs549172615
|
0.00001
|
NM_003619.4(PRSS12):c.*904A>T
|
rs1025703450
|
0.00001
|
NM_003619.4(PRSS12):c.1195C>T (p.Arg399Cys)
|
rs139059047
|
0.00001
|
NM_003619.4(PRSS12):c.1293-10A>G
|
rs374374471
|
0.00001
|
NM_003619.4(PRSS12):c.1903A>G (p.Lys635Glu)
|
rs937952328
|
0.00001
|
NM_003619.4(PRSS12):c.1975C>T (p.Leu659Phe)
|
rs377739049
|
0.00001
|
NM_003619.4(PRSS12):c.315C>T (p.Phe105=)
|
rs776809807
|
0.00001
|
NM_003619.4(PRSS12):c.518G>A (p.Arg173His)
|
rs764862487
|
0.00001
|
NM_003619.4(PRSS12):c.821-12C>G
|
rs373973695
|
0.00001
|
NM_003805.5(CRADD):c.-2A>G
|
rs1431834925
|
0.00001
|
NM_003805.5(CRADD):c.-6-7T>C
|
rs756888040
|
0.00001
|
NM_004130.4(GYG1):c.1040C>A (p.Thr347Asn)
|
rs533834445
|
0.00001
|
NM_004130.4(GYG1):c.109G>A (p.Val37Met)
|
rs913039791
|
0.00001
|
NM_004130.4(GYG1):c.124C>A (p.Gln42Lys)
|
rs1330476252
|
0.00001
|
NM_004130.4(GYG1):c.171A>T (p.Glu57Asp)
|
rs1477619940
|
0.00001
|
NM_004130.4(GYG1):c.206C>G (p.Ser69Cys)
|
rs1483682431
|
0.00001
|
NM_004130.4(GYG1):c.220T>G (p.Leu74Val)
|
rs1398931853
|
0.00001
|
NM_004130.4(GYG1):c.2T>A (p.Met1Lys)
|
rs1176650262
|
0.00001
|
NM_004130.4(GYG1):c.403G>A (p.Gly135Arg)
|
rs566956486
|
0.00001
|
NM_004130.4(GYG1):c.55G>T (p.Ala19Ser)
|
rs148954947
|
0.00001
|
NM_004130.4(GYG1):c.609-19A>G
|
rs748162789
|
0.00001
|
NM_004130.4(GYG1):c.61G>A (p.Val21Ile)
|
rs1372925900
|
0.00001
|
NM_004130.4(GYG1):c.66G>A (p.Leu22=)
|
rs1234846583
|
0.00001
|
NM_004130.4(GYG1):c.809C>T (p.Thr270Ile)
|
rs1198924627
|
0.00001
|
NM_004130.4(GYG1):c.818A>T (p.Tyr273Phe)
|
rs1211466583
|
0.00001
|
NM_004130.4(GYG1):c.828+5G>A
|
rs200878347
|
0.00001
|
NM_004130.4(GYG1):c.872G>T (p.Cys291Phe)
|
rs75284499
|
0.00001
|
NM_004130.4(GYG1):c.878A>G (p.Lys293Arg)
|
rs975170441
|
0.00001
|
NM_004130.4(GYG1):c.926C>T (p.Pro309Leu)
|
rs1014772125
|
0.00001
|
NM_004830.4(MED23):c.3980T>G (p.Leu1327Arg)
|
rs751590798
|
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.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.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.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
|
NM_005536.4(IMPA1):c.613A>G (p.Thr205Ala)
|
rs149824165
|
0.00001
|
NM_005566.4(LDHA):c.*175C>T
|
rs886048089
|
0.00001
|
NM_005566.4(LDHA):c.*228G>A
|
rs1341687956
|
0.00001
|
NM_005566.4(LDHA):c.*253G>A
|
rs758268446
|
0.00001
|
NM_005566.4(LDHA):c.*312G>A
|
rs200982215
|
0.00001
|
NM_005566.4(LDHA):c.*706G>A
|
rs757942016
|
0.00001
|
NM_005566.4(LDHA):c.*914A>G
|
rs147174554
|
0.00001
|
NM_005566.4(LDHA):c.163G>A (p.Glu55Lys)
|
rs144856598
|
0.00001
|
NM_005566.4(LDHA):c.222A>G (p.Thr74=)
|
rs201254300
|
0.00001
|
NM_005566.4(LDHA):c.285G>A (p.Thr95=)
|
rs202160072
|
0.00001
|
NM_005566.4(LDHA):c.30T>C (p.Tyr10=)
|
rs768444502
|
0.00001
|
NM_005566.4(LDHA):c.47A>G (p.Glu16Gly)
|
rs1264619847
|
0.00001
|
NM_005566.4(LDHA):c.833A>C (p.Lys278Thr)
|
rs1244071770
|
0.00001
|
NM_005566.4(LDHA):c.944G>A (p.Arg315His)
|
rs140090654
|
0.00001
|
NM_005609.3(PYGM):c.-234C>T
|
rs886048466
|
0.00001
|
NM_005609.4(PYGM):c.*80G>A
|
rs1245399507
|
0.00001
|
NM_005609.4(PYGM):c.1011G>A (p.Gln337=)
|
rs767039732
|
0.00001
|
NM_005609.4(PYGM):c.107T>G (p.Leu36Arg)
|
rs1394188143
|
0.00001
|
NM_005609.4(PYGM):c.1092+15C>T
|
rs1319046232
|
0.00001
|
NM_005609.4(PYGM):c.1175T>C (p.Leu392Pro)
|
rs759336535
|
0.00001
|
NM_005609.4(PYGM):c.1193C>T (p.Pro398Leu)
|
rs773204705
|
0.00001
|
NM_005609.4(PYGM):c.1196G>A (p.Arg399Gln)
|
rs548646628
|
0.00001
|
NM_005609.4(PYGM):c.1247C>T (p.Ala416Val)
|
rs767347157
|
0.00001
|
NM_005609.4(PYGM):c.1280G>A (p.Arg427Gln)
|
rs756303162
|
0.00001
|
NM_005609.4(PYGM):c.1349C>T (p.Ser450Leu)
|
rs756251887
|
0.00001
|
NM_005609.4(PYGM):c.1520G>A (p.Arg507His)
|
rs575153481
|
0.00001
|
NM_005609.4(PYGM):c.1540T>G (p.Ser514Ala)
|
rs1287109702
|
0.00001
|
NM_005609.4(PYGM):c.1620+3G>T
|
rs548943016
|
0.00001
|
NM_005609.4(PYGM):c.1702G>A (p.Val568Met)
|
rs757791045
|
0.00001
|
NM_005609.4(PYGM):c.1708C>T (p.Arg570Trp)
|
rs377225525
|
0.00001
|
NM_005609.4(PYGM):c.1723A>G (p.Lys575Glu)
|
rs1315020035
|
0.00001
|
NM_005609.4(PYGM):c.1748A>G (p.His583Arg)
|
rs760543538
|
0.00001
|
NM_005609.4(PYGM):c.2024C>T (p.Ser675Leu)
|
rs794727189
|
0.00001
|
NM_005609.4(PYGM):c.2082C>T (p.Asp694=)
|
rs773543072
|
0.00001
|
NM_005609.4(PYGM):c.2204G>A (p.Arg735His)
|
rs760277933
|
0.00001
|
NM_005609.4(PYGM):c.224A>G (p.Tyr75Cys)
|
rs1449944847
|
0.00001
|
NM_005609.4(PYGM):c.2278A>C (p.Lys760Gln)
|
rs754822104
|
0.00001
|
NM_005609.4(PYGM):c.2322C>T (p.Val774=)
|
rs1045215677
|
0.00001
|
NM_005609.4(PYGM):c.2389G>C (p.Glu797Gln)
|
rs577589879
|
0.00001
|
NM_005609.4(PYGM):c.2396C>T (p.Thr799Met)
|
rs377401213
|
0.00001
|
NM_005609.4(PYGM):c.2437T>C (p.Ser813Pro)
|
rs1213033233
|
0.00001
|
NM_005609.4(PYGM):c.2465C>A (p.Ala822Asp)
|
rs747567834
|
0.00001
|
NM_005609.4(PYGM):c.2494C>T (p.Arg832Cys)
|
rs757670205
|
0.00001
|
NM_005609.4(PYGM):c.256C>T (p.Leu86=)
|
rs541817643
|
0.00001
|
NM_005609.4(PYGM):c.338C>T (p.Thr113Ile)
|
rs147571836
|
0.00001
|
NM_005609.4(PYGM):c.346C>G (p.Leu116Val)
|
rs759361512
|
0.00001
|
NM_005609.4(PYGM):c.389C>T (p.Ala130Val)
|
rs200430286
|
0.00001
|
NM_005609.4(PYGM):c.463G>A (p.Ala155Thr)
|
rs753687960
|
0.00001
|
NM_005609.4(PYGM):c.475G>A (p.Gly159Arg)
|
rs760654579
|
0.00001
|
NM_005609.4(PYGM):c.541G>A (p.Asp181Asn)
|
rs551666681
|
0.00001
|
NM_005609.4(PYGM):c.553C>T (p.Arg185Cys)
|
rs749507354
|
0.00001
|
NM_005609.4(PYGM):c.580C>T (p.Arg194Trp)
|
rs376581557
|
0.00001
|
NM_005609.4(PYGM):c.589T>C (p.Phe197Leu)
|
rs773595572
|
0.00001
|
NM_005609.4(PYGM):c.618T>A (p.His206Gln)
|
rs371343340
|
0.00001
|
NM_005609.4(PYGM):c.704G>A (p.Arg235His)
|
rs371247639
|
0.00001
|
NM_005609.4(PYGM):c.735G>T (p.Trp245Cys)
|
rs779706675
|
0.00001
|
NM_005609.4(PYGM):c.8G>A (p.Arg3Gln)
|
rs374812974
|
0.00001
|
NM_005609.4(PYGM):c.928C>T (p.Arg310Cys)
|
rs778061067
|
0.00001
|
NM_005609.4(PYGM):c.98A>G (p.Asn33Ser)
|
rs886048463
|
0.00001
|
NM_005645.4(TAF13):c.122A>G (p.Tyr41Cys)
|
rs773661572
|
0.00001
|
NM_005670.4(EPM2A):c.524A>G (p.His175Arg)
|
rs1264840627
|
0.00001
|
NM_005908.4(MANBA):c.*184A>G
|
rs886058967
|
0.00001
|
NM_005908.4(MANBA):c.1057A>G (p.Lys353Glu)
|
rs779705524
|
0.00001
|
NM_005908.4(MANBA):c.1072A>G (p.Ile358Val)
|
rs199966543
|
0.00001
|
NM_005908.4(MANBA):c.1112+8A>C
|
rs752741187
|
0.00001
|
NM_005908.4(MANBA):c.1113-3C>T
|
rs919183854
|
0.00001
|
NM_005908.4(MANBA):c.1117C>T (p.Arg373Trp)
|
rs369478532
|
0.00001
|
NM_005908.4(MANBA):c.111G>T (p.Ser37=)
|
rs927918838
|
0.00001
|
NM_005908.4(MANBA):c.1300G>A (p.Ala434Thr)
|
rs753441236
|
0.00001
|
NM_005908.4(MANBA):c.1382C>T (p.Ala461Val)
|
rs775701916
|
0.00001
|
NM_005908.4(MANBA):c.1403A>G (p.His468Arg)
|
rs776769550
|
0.00001
|
NM_005908.4(MANBA):c.1421G>A (p.Arg474Gln)
|
rs779506935
|
0.00001
|
NM_005908.4(MANBA):c.1477G>A (p.Val493Ile)
|
rs561172083
|
0.00001
|
NM_005908.4(MANBA):c.1522A>G (p.Thr508Ala)
|
rs778853902
|
0.00001
|
NM_005908.4(MANBA):c.1610T>A (p.Ile537Asn)
|
rs558710124
|
0.00001
|
NM_005908.4(MANBA):c.1746A>T (p.Ser582=)
|
rs1730293546
|
0.00001
|
NM_005908.4(MANBA):c.177+4T>C
|
rs755493385
|
0.00001
|
NM_005908.4(MANBA):c.1865C>T (p.Thr622Ile)
|
rs201866934
|
0.00001
|
NM_005908.4(MANBA):c.1927G>A (p.Glu643Lys)
|
rs1167564128
|
0.00001
|
NM_005908.4(MANBA):c.1952C>T (p.Thr651Met)
|
rs774565122
|
0.00001
|
NM_005908.4(MANBA):c.2115T>C (p.Tyr705=)
|
rs180816849
|
0.00001
|
NM_005908.4(MANBA):c.2207C>T (p.Thr736Ile)
|
rs202100945
|
0.00001
|
NM_005908.4(MANBA):c.2470G>A (p.Val824Ile)
|
rs1246857426
|
0.00001
|
NM_005908.4(MANBA):c.2542G>A (p.Glu848Lys)
|
rs536554772
|
0.00001
|
NM_005908.4(MANBA):c.2632A>G (p.Ile878Val)
|
rs1409396131
|
0.00001
|
NM_005908.4(MANBA):c.469G>C (p.Ala157Pro)
|
rs768261895
|
0.00001
|
NM_005908.4(MANBA):c.50C>T (p.Thr17Ile)
|
rs765795629
|
0.00001
|
NM_005908.4(MANBA):c.617G>A (p.Arg206Lys)
|
rs756414140
|
0.00001
|
NM_005908.4(MANBA):c.649T>C (p.Tyr217His)
|
rs757677635
|
0.00001
|
NM_005908.4(MANBA):c.700G>A (p.Glu234Lys)
|
rs762976551
|
0.00001
|
NM_005908.4(MANBA):c.847A>C (p.Lys283Gln)
|
rs777309946
|
0.00001
|
NM_005908.4(MANBA):c.935G>C (p.Gly312Ala)
|
rs1483686622
|
0.00001
|
NM_005915.6(MCM6):c.1402C>T (p.Arg468Trp)
|
rs138808270
|
0.00001
|
NM_006488.3(KHK):c.*52C>T
|
rs747976594
|
0.00001
|
NM_006488.3(KHK):c.*791G>A
|
rs886055894
|
0.00001
|
NM_006488.3(KHK):c.*810A>C
|
rs543665606
|
0.00001
|
NM_006488.3(KHK):c.101C>A (p.Ser34Tyr)
|
rs746381366
|
0.00001
|
NM_006488.3(KHK):c.210-200A>G
|
rs1482514899
|
0.00001
|
NM_006488.3(KHK):c.463G>A (p.Ala155Thr)
|
rs776211460
|
0.00001
|
NM_006488.3(KHK):c.499C>T (p.Arg167Trp)
|
rs886055887
|
0.00001
|
NM_006488.3(KHK):c.818G>A (p.Ser273Asn)
|
rs575951862
|
0.00001
|
NM_006488.3(KHK):c.866G>A (p.Cys289Tyr)
|
rs201037118
|
0.00001
|
NM_006516.2(SLC2A1):c.-272G>A
|
rs886046344
|
0.00001
|
NM_006516.4(SLC2A1):c.*107G>A
|
rs1643432524
|
0.00001
|
NM_006516.4(SLC2A1):c.*1205C>T
|
rs886046331
|
0.00001
|
NM_006516.4(SLC2A1):c.*1321T>A
|
rs1222650517
|
0.00001
|
NM_006516.4(SLC2A1):c.*775A>G
|
rs779010320
|
0.00001
|
NM_006516.4(SLC2A1):c.1060G>A (p.Ala354Thr)
|
rs780529723
|
0.00001
|
NM_006516.4(SLC2A1):c.1062G>A (p.Ala354=)
|
rs748983257
|
0.00001
|
NM_006516.4(SLC2A1):c.1171G>A (p.Val391Met)
|
rs764168088
|
0.00001
|
NM_006516.4(SLC2A1):c.1407G>C (p.Gln469His)
|
rs201748668
|
0.00001
|
NM_006516.4(SLC2A1):c.1418G>A (p.Ser473Asn)
|
rs774241047
|
0.00001
|
NM_006516.4(SLC2A1):c.152G>A (p.Arg51His)
|
rs201815571
|
0.00001
|
NM_006516.4(SLC2A1):c.192C>G (p.Leu64=)
|
rs762583668
|
0.00001
|
NM_006516.4(SLC2A1):c.266G>A (p.Arg89His)
|
rs370031715
|
0.00001
|
NM_006516.4(SLC2A1):c.31C>T (p.Arg11Cys)
|
rs1333609390
|
0.00001
|
NM_006516.4(SLC2A1):c.332G>T (p.Gly111Val)
|
rs1399284513
|
0.00001
|
NM_006516.4(SLC2A1):c.338C>T (p.Ser113Leu)
|
rs774348625
|
0.00001
|
NM_006516.4(SLC2A1):c.374G>C (p.Gly125Ala)
|
rs781521534
|
0.00001
|
NM_006516.4(SLC2A1):c.392T>C (p.Val131Ala)
|
rs987202561
|
0.00001
|
NM_006516.4(SLC2A1):c.511G>A (p.Ala171Thr)
|
rs1017082606
|
0.00001
|
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly)
|
rs1050933017
|
0.00001
|
NM_006516.4(SLC2A1):c.625G>A (p.Glu209Lys)
|
rs1387203768
|
0.00001
|
NM_006516.4(SLC2A1):c.679+5G>A
|
rs771386274
|
0.00001
|
NM_006516.4(SLC2A1):c.680-10G>T
|
rs587784394
|
0.00001
|
NM_006516.4(SLC2A1):c.697G>A (p.Gly233Arg)
|
rs375853334
|
0.00001
|
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu)
|
rs1302959508
|
0.00001
|
NM_006516.4(SLC2A1):c.902C>T (p.Ala301Val)
|
rs1425773776
|
0.00001
|
NM_006516.4(SLC2A1):c.907G>T (p.Val303Leu)
|
rs1205631854
|
0.00001
|
NM_006516.4(SLC2A1):c.953C>T (p.Thr318Met)
|
rs746091725
|
0.00001
|
NM_006516.4(SLC2A1):c.991G>A (p.Ala331Thr)
|
rs1040371265
|
0.00001
|
NM_006569.6(CGREF1):c.*628A>C
|
rs1276594858
|
0.00001
|
NM_006618.5(KDM5B):c.3592G>A (p.Ala1198Thr)
|
rs549414130
|
0.00001
|
NM_006721.4(ADK):c.*114T>C
|
rs560409958
|
0.00001
|
NM_006721.4(ADK):c.*729T>G
|
rs1307744498
|
0.00001
|
NM_006721.4(ADK):c.220A>G (p.Lys74Glu)
|
rs201786575
|
0.00001
|
NM_006721.4(ADK):c.66-24009G>T
|
rs886047234
|
0.00001
|
NM_006721.4(ADK):c.71A>T (p.Asn24Ile)
|
rs1271395440
|
0.00001
|
NM_006721.4(ADK):c.763-9T>C
|
rs780824505
|
0.00001
|
NM_006755.1(TALDO1):c.-37T>C
|
rs886048655
|
0.00001
|
NM_006755.2(TALDO1):c.293A>T (p.Lys98Met)
|
rs758756190
|
0.00001
|
NM_006755.2(TALDO1):c.402C>T (p.Ile134=)
|
rs886048663
|
0.00001
|
NM_006755.2(TALDO1):c.480C>T (p.His160=)
|
rs200500899
|
0.00001
|
NM_006755.2(TALDO1):c.48C>T (p.Asp16=)
|
rs886048658
|
0.00001
|
NM_006755.2(TALDO1):c.871G>A (p.Glu291Lys)
|
rs567606097
|
0.00001
|
NM_006765.4(TUSC3):c.187C>T (p.Arg63Cys)
|
rs751785405
|
0.00001
|
NM_006765.4(TUSC3):c.308+3A>G
|
rs778993933
|
0.00001
|
NM_006765.4(TUSC3):c.309-3C>G
|
rs776386983
|
0.00001
|
NM_006765.4(TUSC3):c.31A>G (p.Arg11Gly)
|
rs778667759
|
0.00001
|
NM_006765.4(TUSC3):c.67G>A (p.Gly23Arg)
|
rs1454870259
|
0.00001
|
NM_006859.4(LIAS):c.1012C>T (p.Leu338Phe)
|
rs771693497
|
0.00001
|
NM_006859.4(LIAS):c.1048C>T (p.Arg350Cys)
|
rs760106768
|
0.00001
|
NM_006859.4(LIAS):c.1049G>A (p.Arg350His)
|
rs779790258
|
0.00001
|
NM_006859.4(LIAS):c.10C>T (p.Arg4Cys)
|
rs1299862454
|
0.00001
|
NM_006859.4(LIAS):c.140A>G (p.Asp47Gly)
|
rs1184621128
|
0.00001
|
NM_006859.4(LIAS):c.14G>C (p.Cys5Ser)
|
rs1250162017
|
0.00001
|
NM_006859.4(LIAS):c.19G>A (p.Asp7Asn)
|
rs761633225
|
0.00001
|
NM_006859.4(LIAS):c.218G>C (p.Arg73Thr)
|
rs1172950083
|
0.00001
|
NM_006859.4(LIAS):c.23C>T (p.Ala8Val)
|
rs1467308371
|
0.00001
|
NM_006859.4(LIAS):c.25G>T (p.Ala9Ser)
|
rs999105881
|
0.00001
|
NM_006859.4(LIAS):c.266A>T (p.Asn89Ile)
|
rs1230898917
|
0.00001
|
NM_006859.4(LIAS):c.29G>A (p.Arg10His)
|
rs1370681479
|
0.00001
|
NM_006859.4(LIAS):c.329G>A (p.Arg110Gln)
|
rs773238728
|
0.00001
|
NM_006859.4(LIAS):c.348G>C (p.Glu116Asp)
|
rs753615027
|
0.00001
|
NM_006859.4(LIAS):c.354G>C (p.Trp118Cys)
|
rs754927642
|
0.00001
|
NM_006859.4(LIAS):c.361G>A (p.Gly121Arg)
|
rs778779575
|
0.00001
|
NM_006859.4(LIAS):c.37G>A (p.Gly13Arg)
|
rs1320749254
|
0.00001
|
NM_006859.4(LIAS):c.38G>A (p.Gly13Glu)
|
rs1187910864
|
0.00001
|
NM_006859.4(LIAS):c.425G>A (p.Arg142Lys)
|
rs760870251
|
0.00001
|
NM_006859.4(LIAS):c.446C>G (p.Ala149Gly)
|
rs977337132
|
0.00001
|
NM_006859.4(LIAS):c.44G>A (p.Arg15Gln)
|
rs184218786
|
0.00001
|
NM_006859.4(LIAS):c.488C>T (p.Thr163Ile)
|
rs1485721291
|
0.00001
|
NM_006859.4(LIAS):c.542A>T (p.Asp181Val)
|
rs1553934355
|
0.00001
|
NM_006859.4(LIAS):c.563G>C (p.Gly188Ala)
|
rs1210720598
|
0.00001
|
NM_006859.4(LIAS):c.589G>A (p.Val197Ile)
|
rs143321910
|
0.00001
|
NM_006859.4(LIAS):c.620T>G (p.Ile207Ser)
|
rs1196873747
|
0.00001
|
NM_006859.4(LIAS):c.645T>A (p.Asp215Glu)
|
rs869312808
|
0.00001
|
NM_006859.4(LIAS):c.650G>A (p.Arg217Gln)
|
rs570807277
|
0.00001
|
NM_006859.4(LIAS):c.66C>G (p.Cys22Trp)
|
rs529501318
|
0.00001
|
NM_006859.4(LIAS):c.706C>T (p.His236Tyr)
|
rs1426782379
|
0.00001
|
NM_006859.4(LIAS):c.746G>A (p.Arg249His)
|
rs144133667
|
0.00001
|
NM_006859.4(LIAS):c.754C>T (p.Arg252Trp)
|
rs775053206
|
0.00001
|
NM_006859.4(LIAS):c.769C>G (p.Gln257Glu)
|
rs1427248293
|
0.00001
|
NM_006859.4(LIAS):c.850G>A (p.Glu284Lys)
|
rs796052699
|
0.00001
|
NM_006859.4(LIAS):c.872C>T (p.Ala291Val)
|
rs769256159
|
0.00001
|
NM_006859.4(LIAS):c.883G>A (p.Ala295Thr)
|
rs774997711
|
0.00001
|
NM_006859.4(LIAS):c.884C>T (p.Ala295Val)
|
rs1028624548
|
0.00001
|
NM_006859.4(LIAS):c.89C>T (p.Ser30Phe)
|
rs796052701
|
0.00001
|
NM_006859.4(LIAS):c.905A>G (p.Asp302Gly)
|
rs1206469888
|
0.00001
|
NM_006859.4(LIAS):c.930G>A (p.Met310Ile)
|
rs796052700
|
0.00001
|
NM_006859.4(LIAS):c.954+2dup
|
rs1744972353
|
0.00001
|
NM_006859.4(LIAS):c.988T>C (p.Tyr330His)
|
rs1481336454
|
0.00001
|
NM_012203.2(GRHPR):c.14G>A (p.Arg5Gln)
|
rs760538945
|
0.00001
|
NM_012203.2(GRHPR):c.487C>T (p.Arg163Cys)
|
rs760782027
|
0.00001
|
NM_012203.2(GRHPR):c.551G>A (p.Gly184Glu)
|
rs1823271331
|
0.00001
|
NM_012203.2(GRHPR):c.759C>G (p.Asp253Glu)
|
rs770585067
|
0.00001
|
NM_012203.2(GRHPR):c.86G>A (p.Cys29Tyr)
|
rs758049256
|
0.00001
|
NM_012203.2(GRHPR):c.958G>T (p.Glu320Ter)
|
rs1331106064
|
0.00001
|
NM_012434.5(SLC17A5):c.*1206G>A
|
rs1239251189
|
0.00001
|
NM_012434.5(SLC17A5):c.*1450G>A
|
rs886061727
|
0.00001
|
NM_012434.5(SLC17A5):c.*478C>T
|
rs886061733
|
0.00001
|
NM_012434.5(SLC17A5):c.*488G>A
|
rs1216079110
|
0.00001
|
NM_012434.5(SLC17A5):c.*587C>T
|
rs1303568875
|
0.00001
|
NM_012434.5(SLC17A5):c.*817G>A
|
rs886061731
|
0.00001
|
NM_012434.5(SLC17A5):c.*837C>T
|
rs886061730
|
0.00001
|
NM_012434.5(SLC17A5):c.*901C>T
|
rs886061729
|
0.00001
|
NM_012434.5(SLC17A5):c.-2T>C
|
rs752551425
|
0.00001
|
NM_012434.5(SLC17A5):c.1021T>C (p.Cys341Arg)
|
rs142972941
|
0.00001
|
NM_012434.5(SLC17A5):c.1138G>A (p.Val380Ile)
|
rs201724072
|
0.00001
|
NM_012434.5(SLC17A5):c.1154T>C (p.Ile385Thr)
|
rs758772703
|
0.00001
|
NM_012434.5(SLC17A5):c.1160G>C (p.Cys387Ser)
|
rs373162864
|
0.00001
|
NM_012434.5(SLC17A5):c.1261T>A (p.Tyr421Asn)
|
rs775750187
|
0.00001
|
NM_012434.5(SLC17A5):c.1272C>A (p.Ile424=)
|
rs374241516
|
0.00001
|
NM_012434.5(SLC17A5):c.1322C>T (p.Pro441Leu)
|
rs1214170788
|
0.00001
|
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)
|
rs1234745577
|
0.00001
|
NM_012434.5(SLC17A5):c.137C>G (p.Ala46Gly)
|
rs371810705
|
0.00001
|
NM_012434.5(SLC17A5):c.1387G>A (p.Ala463Thr)
|
rs367852327
|
0.00001
|
NM_012434.5(SLC17A5):c.146G>T (p.Gly49Val)
|
rs754877029
|
0.00001
|
NM_012434.5(SLC17A5):c.338G>A (p.Gly113Asp)
|
rs750771008
|
0.00001
|
NM_012434.5(SLC17A5):c.500T>C (p.Leu167Pro)
|
rs587779410
|
0.00001
|
NM_012434.5(SLC17A5):c.542C>G (p.Ala181Gly)
|
rs1303660578
|
0.00001
|
NM_012434.5(SLC17A5):c.572C>A (p.Pro191His)
|
rs1772993961
|
0.00001
|
NM_012434.5(SLC17A5):c.573C>G (p.Pro191=)
|
rs924683894
|
0.00001
|
NM_012434.5(SLC17A5):c.574C>T (p.Pro192Ser)
|
rs149233119
|
0.00001
|
NM_012434.5(SLC17A5):c.660T>G (p.Ile220Met)
|
rs201408081
|
0.00001
|
NM_012434.5(SLC17A5):c.724C>A (p.Leu242Ile)
|
rs757218186
|
0.00001
|
NM_012434.5(SLC17A5):c.762A>C (p.Lys254Asn)
|
rs767502652
|
0.00001
|
NM_012434.5(SLC17A5):c.93C>T (p.Ala31=)
|
rs1347154246
|
0.00001
|
NM_012434.5(SLC17A5):c.95-13A>G
|
rs1181668892
|
0.00001
|
NM_014026.6(DCPS):c.201+4C>G
|
rs746334180
|
0.00001
|
NM_014168.4(METTL5):c.362A>G (p.Asp121Gly)
|
rs760916142
|
0.00001
|
NM_014415.4(ZBTB11):c.1342A>C (p.Ser448Arg)
|
rs760062265
|
0.00001
|
NM_014806.5(RUSC2):c.2324C>T (p.Ser775Leu)
|
rs763555777
|
0.00001
|
NM_014806.5(RUSC2):c.2614C>T (p.Arg872Trp)
|
rs201335495
|
0.00001
|
NM_014806.5(RUSC2):c.2626G>A (p.Glu876Lys)
|
rs1486315197
|
0.00001
|
NM_014806.5(RUSC2):c.2959T>G (p.Ser987Ala)
|
rs145303576
|
0.00001
|
NM_014806.5(RUSC2):c.3044G>A (p.Arg1015Gln)
|
rs1041188721
|
0.00001
|
NM_014806.5(RUSC2):c.853A>G (p.Ser285Gly)
|
rs1444513149
|
0.00001
|
NM_015275.3(WASHC4):c.2767A>G (p.Met923Val)
|
rs779313558
|
0.00001
|
NM_015275.3(WASHC4):c.443C>G (p.Ser148Cys)
|
rs1880398314
|
0.00001
|
NM_015957.4(APIP):c.-1C>T
|
rs774565620
|
0.00001
|
NM_016042.4(EXOSC3):c.*312T>G
|
rs1044154281
|
0.00001
|
NM_016042.4(EXOSC3):c.325-6T>C
|
rs375827861
|
0.00001
|
NM_016042.4(EXOSC3):c.557G>A (p.Arg186Gln)
|
rs748839685
|
0.00001
|
NM_016203.4(PRKAG2):c.1003A>G (p.Met335Val)
|
rs769428744
|
0.00001
|
NM_016203.4(PRKAG2):c.1052-6A>G
|
rs772764664
|
0.00001
|
NM_016203.4(PRKAG2):c.1112T>A (p.Phe371Tyr)
|
rs769892556
|
0.00001
|
NM_016203.4(PRKAG2):c.1172T>C (p.Ile391Thr)
|
rs1425296851
|
0.00001
|
NM_016203.4(PRKAG2):c.119T>A (p.Leu40Gln)
|
rs139653890
|
0.00001
|
NM_016203.4(PRKAG2):c.1238C>G (p.Ser413Cys)
|
rs758756757
|
0.00001
|
NM_016203.4(PRKAG2):c.1255G>A (p.Ala419Thr)
|
rs373919593
|
0.00001
|
NM_016203.4(PRKAG2):c.1295C>T (p.Thr432Met)
|
rs760879406
|
0.00001
|
NM_016203.4(PRKAG2):c.1315A>G (p.Ile439Val)
|
rs370257703
|
0.00001
|
NM_016203.4(PRKAG2):c.131C>T (p.Ala44Val)
|
rs730880984
|
0.00001
|
NM_016203.4(PRKAG2):c.1324G>A (p.Asp442Asn)
|
rs199863116
|
0.00001
|
NM_016203.4(PRKAG2):c.1361A>G (p.Glu454Gly)
|
rs940818676
|
0.00001
|
NM_016203.4(PRKAG2):c.1367G>A (p.Arg456Gln)
|
rs730880980
|
0.00001
|
NM_016203.4(PRKAG2):c.137C>T (p.Pro46Leu)
|
rs373477232
|
0.00001
|
NM_016203.4(PRKAG2):c.1390G>A (p.Asp464Asn)
|
rs397517264
|
0.00001
|
NM_016203.4(PRKAG2):c.1438-3C>A
|
rs773864390
|
0.00001
|
NM_016203.4(PRKAG2):c.1475T>A (p.Ile492Asn)
|
rs186114650
|
0.00001
|
NM_016203.4(PRKAG2):c.148G>A (p.Gly50Arg)
|
rs1430071393
|
0.00001
|
NM_016203.4(PRKAG2):c.1502G>A (p.Arg501His)
|
rs144077131
|
0.00001
|
NM_016203.4(PRKAG2):c.1508A>G (p.Gln503Arg)
|
rs727504337
|
0.00001
|
NM_016203.4(PRKAG2):c.1529A>G (p.Lys510Arg)
|
rs370899599
|
0.00001
|
NM_016203.4(PRKAG2):c.161G>A (p.Gly54Asp)
|
rs878855019
|
0.00001
|
NM_016203.4(PRKAG2):c.1655A>G (p.Gln552Arg)
|
rs1335765564
|
0.00001
|
NM_016203.4(PRKAG2):c.1687C>T (p.Gln563Ter)
|
rs397517267
|
0.00001
|
NM_016203.4(PRKAG2):c.186+7C>T
|
rs886062102
|
0.00001
|
NM_016203.4(PRKAG2):c.186G>T (p.Lys62Asn)
|
rs369687307
|
0.00001
|
NM_016203.4(PRKAG2):c.187-3C>T
|
rs972389122
|
0.00001
|
NM_016203.4(PRKAG2):c.202G>A (p.Gly68Ser)
|
rs730880970
|
0.00001
|
NM_016203.4(PRKAG2):c.262C>A (p.Pro88Thr)
|
rs1300640443
|
0.00001
|
NM_016203.4(PRKAG2):c.275C>A (p.Pro92His)
|
rs375398155
|
0.00001
|
NM_016203.4(PRKAG2):c.292A>G (p.Ser98Gly)
|
rs1243030792
|
0.00001
|
NM_016203.4(PRKAG2):c.31A>G (p.Lys11Glu)
|
rs1041124171
|
0.00001
|
NM_016203.4(PRKAG2):c.320C>T (p.Pro107Leu)
|
rs730880985
|
0.00001
|
NM_016203.4(PRKAG2):c.355C>T (p.Arg119Ter)
|
rs1177945294
|
0.00001
|
NM_016203.4(PRKAG2):c.359G>T (p.Arg120Leu)
|
rs775756069
|
0.00001
|
NM_016203.4(PRKAG2):c.376A>G (p.Ile126Val)
|
rs1379819489
|
0.00001
|
NM_016203.4(PRKAG2):c.382C>T (p.Arg128Cys)
|
rs2076651870
|
0.00001
|
NM_016203.4(PRKAG2):c.395A>G (p.Lys132Arg)
|
rs779753891
|
0.00001
|
NM_016203.4(PRKAG2):c.40G>C (p.Val14Leu)
|
rs150188173
|
0.00001
|
NM_016203.4(PRKAG2):c.418C>T (p.Pro140Ser)
|
rs755782342
|
0.00001
|
NM_016203.4(PRKAG2):c.428C>T (p.Ser143Leu)
|
rs397517271
|
0.00001
|
NM_016203.4(PRKAG2):c.466+2T>G
|
rs962806505
|
0.00001
|
NM_016203.4(PRKAG2):c.475C>T (p.Leu159Phe)
|
rs1832795622
|
0.00001
|
NM_016203.4(PRKAG2):c.482C>T (p.Ser161Phe)
|
rs748557485
|
0.00001
|
NM_016203.4(PRKAG2):c.500C>T (p.Thr167Ile)
|
rs766578540
|
0.00001
|
NM_016203.4(PRKAG2):c.515A>C (p.Gln172Pro)
|
rs969117866
|
0.00001
|
NM_016203.4(PRKAG2):c.541A>C (p.Lys181Gln)
|
rs765259437
|
0.00001
|
NM_016203.4(PRKAG2):c.569G>A (p.Arg190His)
|
rs551795395
|
0.00001
|
NM_016203.4(PRKAG2):c.587C>T (p.Ser196Phe)
|
rs267601424
|
0.00001
|
NM_016203.4(PRKAG2):c.629A>G (p.Gln210Arg)
|
rs1585679990
|
0.00001
|
NM_016203.4(PRKAG2):c.64G>A (p.Gly22Ser)
|
rs1057524523
|
0.00001
|
NM_016203.4(PRKAG2):c.659C>T (p.Pro220Leu)
|
rs200181419
|
0.00001
|
NM_016203.4(PRKAG2):c.679A>G (p.Lys227Glu)
|
rs766460601
|
0.00001
|
NM_016203.4(PRKAG2):c.684C>T (p.Ala228=)
|
rs151108625
|
0.00001
|
NM_016203.4(PRKAG2):c.685-1G>A
|
rs1824685527
|
0.00001
|
NM_016203.4(PRKAG2):c.685-3C>T
|
rs1057520353
|
0.00001
|
NM_016203.4(PRKAG2):c.691C>G (p.Leu231Val)
|
rs745772277
|
0.00001
|
NM_016203.4(PRKAG2):c.739G>C (p.Glu247Gln)
|
rs397517281
|
0.00001
|
NM_016203.4(PRKAG2):c.755-1G>A
|
rs778614872
|
0.00001
|
NM_016203.4(PRKAG2):c.979C>G (p.Leu327Val)
|
rs730880988
|
0.00001
|
NM_016203.4(PRKAG2):c.997T>G (p.Ser333Ala)
|
rs775005432
|
0.00001
|
NM_016219.5(MAN1B1):c.*389C>G
|
rs1489403973
|
0.00001
|
NM_016219.5(MAN1B1):c.*404T>C
|
rs759863657
|
0.00001
|
NM_016219.5(MAN1B1):c.*587C>G
|
rs946716926
|
0.00001
|
NM_016219.5(MAN1B1):c.1001G>A (p.Arg334His)
|
rs1476136894
|
0.00001
|
NM_016219.5(MAN1B1):c.1042G>T (p.Asp348Tyr)
|
rs184782012
|
0.00001
|
NM_016219.5(MAN1B1):c.1110C>G (p.Ser370=)
|
rs776601946
|
0.00001
|
NM_016219.5(MAN1B1):c.1189G>A (p.Glu397Lys)
|
rs387906885
|
0.00001
|
NM_016219.5(MAN1B1):c.1216C>T (p.Arg406Trp)
|
rs1037141680
|
0.00001
|
NM_016219.5(MAN1B1):c.1428C>T (p.Gly476=)
|
rs751469511
|
0.00001
|
NM_016219.5(MAN1B1):c.1565T>C (p.Met522Thr)
|
rs764475116
|
0.00001
|
NM_016219.5(MAN1B1):c.1626C>T (p.Pro542=)
|
rs754107444
|
0.00001
|
NM_016219.5(MAN1B1):c.1687A>G (p.Met563Val)
|
rs770987752
|
0.00001
|
NM_016219.5(MAN1B1):c.1765-20G>C
|
rs1225685090
|
0.00001
|
NM_016219.5(MAN1B1):c.1811T>G (p.Leu604Arg)
|
rs776114448
|
0.00001
|
NM_016219.5(MAN1B1):c.1897G>T (p.Val633Phe)
|
rs777270726
|
0.00001
|
NM_016219.5(MAN1B1):c.1976T>G (p.Phe659Cys)
|
rs756140103
|
0.00001
|
NM_016219.5(MAN1B1):c.1998G>A (p.Lys666=)
|
rs150436630
|
0.00001
|
NM_016219.5(MAN1B1):c.2016C>T (p.Phe672=)
|
rs746212127
|
0.00001
|
NM_016219.5(MAN1B1):c.2083A>G (p.Ile695Val)
|
rs963979748
|
0.00001
|
NM_016219.5(MAN1B1):c.41C>T (p.Ser14Phe)
|
rs776658507
|
0.00001
|
NM_016219.5(MAN1B1):c.430A>G (p.Thr144Ala)
|
rs763520482
|
0.00001
|
NM_016219.5(MAN1B1):c.431C>T (p.Thr144Ile)
|
rs763744643
|
0.00001
|
NM_016219.5(MAN1B1):c.466-12A>G
|
rs760066464
|
0.00001
|
NM_016219.5(MAN1B1):c.561A>C (p.Lys187Asn)
|
rs534967836
|
0.00001
|
NM_016219.5(MAN1B1):c.678A>C (p.Ala226=)
|
rs1430903884
|
0.00001
|
NM_016219.5(MAN1B1):c.780A>G (p.Ala260=)
|
rs151136979
|
0.00001
|
NM_016219.5(MAN1B1):c.7G>T (p.Ala3Ser)
|
rs573766677
|
0.00001
|
NM_016219.5(MAN1B1):c.882G>A (p.Ala294=)
|
rs750236367
|
0.00001
|
NM_016219.5(MAN1B1):c.905G>A (p.Gly302Asp)
|
rs777884272
|
0.00001
|
NM_017721.5(CC2D1A):c.1584G>C (p.Lys528Asn)
|
rs1180111779
|
0.00001
|
NM_017721.5(CC2D1A):c.1597A>G (p.Met533Val)
|
rs529368098
|
0.00001
|
NM_017721.5(CC2D1A):c.1948C>T (p.Pro650Ser)
|
rs746894472
|
0.00001
|
NM_017721.5(CC2D1A):c.2159G>A (p.Arg720His)
|
rs1194702277
|
0.00001
|
NM_017755.6(NSUN2):c.*85G>A
|
rs1429279900
|
0.00001
|
NM_017755.6(NSUN2):c.1310A>G (p.Lys437Arg)
|
rs375923267
|
0.00001
|
NM_017755.6(NSUN2):c.2059C>T (p.Arg687Ter)
|
rs886060728
|
0.00001
|
NM_017755.6(NSUN2):c.989C>G (p.Ala330Gly)
|
rs373663619
|
0.00001
|
NM_018217.3(EDEM2):c.1271G>A (p.Arg424His)
|
rs996131573
|
0.00001
|
NM_018255.4(ELP2):c.2236T>C (p.Cys746Arg)
|
rs1414536488
|
0.00001
|
NM_018255.4(ELP2):c.918A>T (p.Arg306Ser)
|
rs1389450136
|
0.00001
|
NM_018297.4(NGLY1):c.354G>C (p.Lys118Asn)
|
rs752256415
|
0.00001
|
NM_020066.5(FMN2):c.2240C>T (p.Ser747Phe)
|
rs776610158
|
0.00001
|
NM_020066.5(FMN2):c.4865T>C (p.Ile1622Thr)
|
rs1298917573
|
0.00001
|
NM_020066.5(FMN2):c.629A>G (p.Gln210Arg)
|
rs1458799973
|
0.00001
|
NM_020897.3(HCN3):c.*1330G>T
|
rs886045348
|
0.00001
|
NM_020897.3(HCN3):c.*832C>T
|
rs917244300
|
0.00001
|
NM_021956.5(GRIK2):c.1073G>T (p.Arg358Leu)
|
rs560817419
|
0.00001
|
NM_021957.4(GYS2):c.*408A>G
|
rs1180052815
|
0.00001
|
NM_021957.4(GYS2):c.*520A>G
|
rs886049153
|
0.00001
|
NM_021957.4(GYS2):c.-109G>A
|
rs1424660561
|
0.00001
|
NM_021957.4(GYS2):c.1111A>G (p.Lys371Glu)
|
rs1489497076
|
0.00001
|
NM_021957.4(GYS2):c.1229+6T>C
|
rs775446055
|
0.00001
|
NM_021957.4(GYS2):c.1230-5T>G
|
rs777032042
|
0.00001
|
NM_021957.4(GYS2):c.1331C>A (p.Thr444Asn)
|
rs759192462
|
0.00001
|
NM_021957.4(GYS2):c.1334C>T (p.Thr445Met)
|
rs776104371
|
0.00001
|
NM_021957.4(GYS2):c.1405C>T (p.Arg469Cys)
|
rs765248902
|
0.00001
|
NM_021957.4(GYS2):c.1423-1G>A
|
rs202043849
|
0.00001
|
NM_021957.4(GYS2):c.154G>A (p.Ala52Thr)
|
rs886049162
|
0.00001
|
NM_021957.4(GYS2):c.1829A>G (p.His610Arg)
|
rs751455210
|
0.00001
|
NM_021957.4(GYS2):c.1974dup (p.Val659fs)
|
rs1181756742
|
0.00001
|
NM_021957.4(GYS2):c.257A>G (p.Asp86Gly)
|
rs1944495395
|
0.00001
|
NM_021957.4(GYS2):c.427C>T (p.Pro143Ser)
|
rs376712209
|
0.00001
|
NM_021957.4(GYS2):c.534A>G (p.Gln178=)
|
rs750100480
|
0.00001
|
NM_021957.4(GYS2):c.612C>A (p.Thr204=)
|
rs758427436
|
0.00001
|
NM_021957.4(GYS2):c.653T>C (p.Ile218Thr)
|
rs1169286490
|
0.00001
|
NM_021957.4(GYS2):c.841G>A (p.Gly281Ser)
|
rs767722149
|
0.00001
|
NM_021957.4(GYS2):c.942-7del
|
rs537907545
|
0.00001
|
NM_021957.4(GYS2):c.948C>T (p.Leu316=)
|
rs374841625
|
0.00001
|
NM_022042.4(SLC26A1):c.*874C>T
|
rs775172497
|
0.00001
|
NM_022042.4(SLC26A1):c.*876C>T
|
rs546988577
|
0.00001
|
NM_022895.3(C12orf43):c.*1871A>G
|
rs1045819255
|
0.00001
|
NM_024298.5(MBOAT7):c.763G>A (p.Gly255Ser)
|
rs761791932
|
0.00001
|
NM_024298.5(MBOAT7):c.968C>T (p.Thr323Met)
|
rs139499369
|
0.00001
|
NM_024824.5(ZC3H14):c.311G>A (p.Arg104Gln)
|
rs772949764
|
0.00001
|
NM_024989.4(PGAP1):c.100G>A (p.Glu34Lys)
|
rs752507663
|
0.00001
|
NM_024989.4(PGAP1):c.1274A>G (p.Tyr425Cys)
|
rs1291611574
|
0.00001
|
NM_024989.4(PGAP1):c.1352T>A (p.Phe451Tyr)
|
rs780043187
|
0.00001
|
NM_024989.4(PGAP1):c.2276A>G (p.Tyr759Cys)
|
rs776817075
|
0.00001
|
NM_024989.4(PGAP1):c.2525+5G>A
|
rs759133146
|
0.00001
|
NM_024989.4(PGAP1):c.2551C>T (p.Pro851Ser)
|
rs765007097
|
0.00001
|
NM_024989.4(PGAP1):c.2643G>C (p.Lys881Asn)
|
rs776985592
|
0.00001
|
NM_024989.4(PGAP1):c.478-3T>C
|
rs773139555
|
0.00001
|
NM_024989.4(PGAP1):c.695A>G (p.His232Arg)
|
rs749729836
|
0.00001
|
NM_025083.5(EDC3):c.778C>T (p.Arg260Trp)
|
rs748142645
|
0.00001
|
NM_030805.4(LMAN2L):c.187+4A>C
|
rs2078596924
|
0.00001
|
NM_030805.4(LMAN2L):c.785-273A>G
|
rs1469575298
|
0.00001
|
NM_031229.4(RBCK1):c.1091G>A (p.Arg364His)
|
rs562488006
|
0.00001
|
NM_031229.4(RBCK1):c.113G>A (p.Arg38Gln)
|
rs773934109
|
0.00001
|
NM_031229.4(RBCK1):c.1209+2_1209+3insA
|
rs774461310
|
0.00001
|
NM_031229.4(RBCK1):c.1261C>T (p.Arg421Trp)
|
rs771360977
|
0.00001
|
NM_031229.4(RBCK1):c.1264G>A (p.Ala422Thr)
|
rs776994199
|
0.00001
|
NM_031229.4(RBCK1):c.1308+3G>A
|
rs757924227
|
0.00001
|
NM_031229.4(RBCK1):c.1381G>A (p.Asp461Asn)
|
rs1201022654
|
0.00001
|
NM_031229.4(RBCK1):c.1411G>A (p.Glu471Lys)
|
rs1342598444
|
0.00001
|
NM_031229.4(RBCK1):c.1438C>T (p.Arg480Cys)
|
rs1436848446
|
0.00001
|
NM_031229.4(RBCK1):c.1452G>A (p.Gly484=)
|
rs780470011
|
0.00001
|
NM_031229.4(RBCK1):c.1471G>A (p.Gly491Arg)
|
rs770973545
|
0.00001
|
NM_031229.4(RBCK1):c.154A>G (p.Thr52Ala)
|
rs755353013
|
0.00001
|
NM_031229.4(RBCK1):c.202A>G (p.Thr68Ala)
|
rs779621384
|
0.00001
|
NM_031229.4(RBCK1):c.203C>T (p.Thr68Ile)
|
rs753472058
|
0.00001
|
NM_031229.4(RBCK1):c.21A>G (p.Lys7=)
|
rs1288403973
|
0.00001
|
NM_031229.4(RBCK1):c.245C>T (p.Ala82Val)
|
rs544518686
|
0.00001
|
NM_031229.4(RBCK1):c.300G>C (p.Gln100His)
|
rs752266924
|
0.00001
|
NM_031229.4(RBCK1):c.400C>T (p.Arg134Cys)
|
rs146325218
|
0.00001
|
NM_031229.4(RBCK1):c.433C>T (p.Arg145Trp)
|
rs751068368
|
0.00001
|
NM_031229.4(RBCK1):c.449G>A (p.Arg150Gln)
|
rs748158080
|
0.00001
|
NM_031229.4(RBCK1):c.542C>A (p.Pro181His)
|
rs952034182
|
0.00001
|
NM_031229.4(RBCK1):c.581C>T (p.Pro194Leu)
|
rs1165538930
|
0.00001
|
NM_031229.4(RBCK1):c.653G>A (p.Arg218Gln)
|
rs764357407
|
0.00001
|
NM_031229.4(RBCK1):c.666G>C (p.Glu222Asp)
|
rs754967314
|
0.00001
|
NM_031229.4(RBCK1):c.682G>A (p.Ala228Thr)
|
rs752666659
|
0.00001
|
NM_031229.4(RBCK1):c.709C>G (p.Arg237Gly)
|
rs762315366
|
0.00001
|
NM_031229.4(RBCK1):c.710G>C (p.Arg237Pro)
|
rs770302308
|
0.00001
|
NM_031229.4(RBCK1):c.71A>C (p.Glu24Ala)
|
rs773247812
|
0.00001
|
NM_031229.4(RBCK1):c.743G>A (p.Arg248His)
|
rs1385885540
|
0.00001
|
NM_031229.4(RBCK1):c.800A>G (p.Gln267Arg)
|
rs1055669487
|
0.00001
|
NM_031229.4(RBCK1):c.82A>G (p.Met28Val)
|
rs909682858
|
0.00001
|
NM_031229.4(RBCK1):c.838G>A (p.Ala280Thr)
|
rs367600993
|
0.00001
|
NM_031229.4(RBCK1):c.916A>C (p.Arg306=)
|
rs1438078445
|
0.00001
|
NM_032808.7(LINGO1):c.1825G>A (p.Ala609Thr)
|
rs367728067
|
0.00001
|
NM_033159.4(HYAL1):c.-5G>A
|
rs368638384
|
0.00001
|
NM_033159.4(HYAL1):c.1047G>C (p.Leu349=)
|
rs782279681
|
0.00001
|
NM_033159.4(HYAL1):c.1112G>A (p.Arg371His)
|
rs587595632
|
0.00001
|
NM_033159.4(HYAL1):c.1280C>T (p.Pro427Leu)
|
rs782298295
|
0.00001
|
NM_033159.4(HYAL1):c.1291C>T (p.Arg431Trp)
|
rs782616691
|
0.00001
|
NM_033159.4(HYAL1):c.200G>A (p.Arg67His)
|
rs782491043
|
0.00001
|
NM_033159.4(HYAL1):c.28G>A (p.Ala10Thr)
|
rs782713825
|
0.00001
|
NM_033159.4(HYAL1):c.355G>T (p.Ala119Ser)
|
rs587647302
|
0.00001
|
NM_033159.4(HYAL1):c.463G>T (p.Val155Leu)
|
rs1473371417
|
0.00001
|
NM_033159.4(HYAL1):c.539G>A (p.Arg180Gln)
|
rs782751421
|
0.00001
|
NM_033159.4(HYAL1):c.630T>C (p.Tyr210=)
|
rs781838448
|
0.00001
|
NM_033159.4(HYAL1):c.796G>A (p.Val266Met)
|
rs782299729
|
0.00001
|
NM_033159.4(HYAL1):c.802G>A (p.Glu268Lys)
|
rs104893743
|
0.00001
|
NM_033159.4(HYAL1):c.952G>A (p.Val318Met)
|
rs1553712745
|
0.00001
|
NM_053013.4(ENO3):c.1046C>T (p.Ser349Leu)
|
rs777965106
|
0.00001
|
NM_053013.4(ENO3):c.1180A>C (p.Lys394Gln)
|
rs1322216100
|
0.00001
|
NM_053013.4(ENO3):c.1198C>T (p.Arg400Cys)
|
rs534374372
|
0.00001
|
NM_053013.4(ENO3):c.159C>A (p.Asp53Glu)
|
rs746259097
|
0.00001
|
NM_053013.4(ENO3):c.182G>A (p.Gly61Glu)
|
rs1971599259
|
0.00001
|
NM_053013.4(ENO3):c.340G>A (p.Val114Met)
|
rs761323443
|
0.00001
|
NM_053013.4(ENO3):c.363G>A (p.Ala121=)
|
rs201872558
|
0.00001
|
NM_053013.4(ENO3):c.403G>A (p.Ala135Thr)
|
rs747456400
|
0.00001
|
NM_053013.4(ENO3):c.493A>G (p.Met165Val)
|
rs781694580
|
0.00001
|
NM_053013.4(ENO3):c.559G>A (p.Glu187Lys)
|
rs772218199
|
0.00001
|
NM_053013.4(ENO3):c.716A>G (p.Lys239Arg)
|
rs764872268
|
0.00001
|
NM_053013.4(ENO3):c.724A>T (p.Ile242Phe)
|
rs1368067716
|
0.00001
|
NM_053013.4(ENO3):c.736G>A (p.Val246Met)
|
rs756256626
|
0.00001
|
NM_053013.4(ENO3):c.785A>G (p.Lys262Arg)
|
rs886053166
|
0.00001
|
NM_053013.4(ENO3):c.79G>A (p.Ala27Thr)
|
rs766310955
|
0.00001
|
NM_053013.4(ENO3):c.866T>C (p.Val289Ala)
|
rs780704553
|
0.00001
|
NM_053013.4(ENO3):c.908C>T (p.Thr303Ile)
|
rs772062073
|
0.00001
|
NM_080749.4(NEURL2):c.-101G>C
|
rs558829056
|
0.00001
|
NM_080749.4(NEURL2):c.-98del
|
rs886056711
|
0.00001
|
NM_138413.4(HOGA1):c.-224G>A
|
rs1176162564
|
0.00001
|
NM_138413.4(HOGA1):c.133C>G (p.Pro45Ala)
|
rs1380918472
|
0.00001
|
NM_138413.4(HOGA1):c.212-6T>C
|
rs372066473
|
0.00001
|
NM_138413.4(HOGA1):c.221T>G (p.Val74Gly)
|
rs796052084
|
0.00001
|
NM_138413.4(HOGA1):c.238G>A (p.Glu80Lys)
|
rs772441887
|
0.00001
|
NM_138413.4(HOGA1):c.260G>C (p.Ser87Thr)
|
rs1167209340
|
0.00001
|
NM_138413.4(HOGA1):c.294G>A (p.Gln98=)
|
rs777208958
|
0.00001
|
NM_138413.4(HOGA1):c.317T>A (p.Leu106Gln)
|
rs892512382
|
0.00001
|
NM_138413.4(HOGA1):c.33G>T (p.Arg11Ser)
|
rs778696295
|
0.00001
|
NM_138413.4(HOGA1):c.398C>T (p.Ala133Val)
|
rs374367160
|
0.00001
|
NM_138413.4(HOGA1):c.420C>T (p.Tyr140=)
|
rs749899995
|
0.00001
|
NM_138413.4(HOGA1):c.529G>T (p.Asp177Tyr)
|
rs777601935
|
0.00001
|
NM_138413.4(HOGA1):c.533T>A (p.Leu178Gln)
|
rs796052090
|
0.00001
|
NM_138413.4(HOGA1):c.634A>G (p.Thr212Ala)
|
rs779492256
|
0.00001
|
NM_138413.4(HOGA1):c.818T>C (p.Ile273Thr)
|
rs758795356
|
0.00001
|
NM_138413.4(HOGA1):c.832G>A (p.Ala278Thr)
|
rs748335042
|
0.00001
|
NM_138413.4(HOGA1):c.933C>T (p.Pro311=)
|
rs561984280
|
0.00001
|
NM_138775.3(ALKBH8):c.1105C>T (p.Arg369Trp)
|
rs745922825
|
0.00001
|
NM_138775.3(ALKBH8):c.844A>T (p.Met282Leu)
|
rs763543231
|
0.00001
|
NM_138801.3(GALM):c.661_663del (p.Ala221del)
|
rs1666556107
|
0.00001
|
NM_144563.3(RPIA):c.*728T>C
|
rs1006392866
|
0.00001
|
NM_144563.3(RPIA):c.443A>G (p.Asp148Gly)
|
rs773038072
|
0.00001
|
NM_144563.3(RPIA):c.55C>A (p.Pro19Thr)
|
rs756750653
|
0.00001
|
NM_144563.3(RPIA):c.596+3A>G
|
rs373335890
|
0.00001
|
NM_144563.3(RPIA):c.790C>T (p.Arg264Trp)
|
rs201938367
|
0.00001
|
NM_152419.3(HGSNAT):c.*160C>T
|
rs886062955
|
0.00001
|
NM_152419.3(HGSNAT):c.*1841G>A
|
rs886062962
|
0.00001
|
NM_152419.3(HGSNAT):c.*2305A>G
|
rs886062963
|
0.00001
|
NM_152419.3(HGSNAT):c.*2756G>A
|
rs564747354
|
0.00001
|
NM_152419.3(HGSNAT):c.*2801C>G
|
rs886062964
|
0.00001
|
NM_152419.3(HGSNAT):c.*2967C>T
|
rs549454910
|
0.00001
|
NM_152419.3(HGSNAT):c.*3241A>G
|
rs886062966
|
0.00001
|
NM_152419.3(HGSNAT):c.1075G>A (p.Val359Ile)
|
rs1200184747
|
0.00001
|
NM_152419.3(HGSNAT):c.1099G>A (p.Ala367Thr)
|
rs1476919967
|
0.00001
|
NM_152419.3(HGSNAT):c.110C>T (p.Pro37Leu)
|
rs1465935790
|
0.00001
|
NM_152419.3(HGSNAT):c.111G>A (p.Pro37=)
|
rs886062953
|
0.00001
|
NM_152419.3(HGSNAT):c.1128G>A (p.Ser376=)
|
rs770462636
|
0.00001
|
NM_152419.3(HGSNAT):c.1160C>T (p.Thr387Met)
|
rs370653879
|
0.00001
|
NM_152419.3(HGSNAT):c.1218G>T (p.Leu406Phe)
|
rs1425393733
|
0.00001
|
NM_152419.3(HGSNAT):c.1220C>T (p.Thr407Ile)
|
rs1410211396
|
0.00001
|
NM_152419.3(HGSNAT):c.1231C>A (p.Pro411Thr)
|
rs1804531287
|
0.00001
|
NM_152419.3(HGSNAT):c.1264C>T (p.Pro422Ser)
|
rs538620581
|
0.00001
|
NM_152419.3(HGSNAT):c.1313C>T (p.Ala438Val)
|
rs1016164503
|
0.00001
|
NM_152419.3(HGSNAT):c.1345dup (p.Asp449fs)
|
rs483352894
|
0.00001
|
NM_152419.3(HGSNAT):c.1410C>T (p.Pro470=)
|
rs779611596
|
0.00001
|
NM_152419.3(HGSNAT):c.1474A>G (p.Ile492Val)
|
rs766052009
|
0.00001
|
NM_152419.3(HGSNAT):c.1492G>C (p.Ala498Pro)
|
rs1433404175
|
0.00001
|
NM_152419.3(HGSNAT):c.1535G>C (p.Cys512Ser)
|
rs762252722
|
0.00001
|
NM_152419.3(HGSNAT):c.1565C>T (p.Thr522Met)
|
rs561701894
|
0.00001
|
NM_152419.3(HGSNAT):c.1591A>C (p.Ile531Leu)
|
rs1804772048
|
0.00001
|
NM_152419.3(HGSNAT):c.1768G>A (p.Glu590Lys)
|
rs1163166400
|
0.00001
|
NM_152419.3(HGSNAT):c.1850C>T (p.Ala617Val)
|
rs776791119
|
0.00001
|
NM_152419.3(HGSNAT):c.185T>C (p.Leu62Pro)
|
rs1304780108
|
0.00001
|
NM_152419.3(HGSNAT):c.1865T>C (p.Ile622Thr)
|
rs1240119393
|
0.00001
|
NM_152419.3(HGSNAT):c.1871A>G (p.Tyr624Cys)
|
rs773631016
|
0.00001
|
NM_152419.3(HGSNAT):c.234C>T (p.His78=)
|
rs760790643
|
0.00001
|
NM_152419.3(HGSNAT):c.322G>A (p.Gly108Arg)
|
rs1427202401
|
0.00001
|
NM_152419.3(HGSNAT):c.326C>A (p.Ser109Tyr)
|
rs768887468
|
0.00001
|
NM_152419.3(HGSNAT):c.338T>C (p.Leu113Pro)
|
rs765211666
|
0.00001
|
NM_152419.3(HGSNAT):c.444A>C (p.Glu148Asp)
|
rs1399122628
|
0.00001
|
NM_152419.3(HGSNAT):c.493+4C>T
|
rs372471081
|
0.00001
|
NM_152419.3(HGSNAT):c.493+5G>A
|
rs781408761
|
0.00001
|
NM_152419.3(HGSNAT):c.533T>G (p.Ile178Ser)
|
rs752128693
|
0.00001
|
NM_152419.3(HGSNAT):c.563+3A>G
|
rs753027018
|
0.00001
|
NM_152419.3(HGSNAT):c.591T>C (p.Ser197=)
|
rs1355715592
|
0.00001
|
NM_152419.3(HGSNAT):c.594A>T (p.Lys198Asn)
|
rs763403091
|
0.00001
|
NM_152419.3(HGSNAT):c.619C>T (p.Arg207Cys)
|
rs199861011
|
0.00001
|
NM_152419.3(HGSNAT):c.659A>G (p.Asp220Gly)
|
rs1803591916
|
0.00001
|
NM_152419.3(HGSNAT):c.664C>T (p.Leu222Phe)
|
rs1358373785
|
0.00001
|
NM_152419.3(HGSNAT):c.688A>G (p.Thr230Ala)
|
rs758464800
|
0.00001
|
NM_152419.3(HGSNAT):c.695G>A (p.Arg232His)
|
rs371869844
|
0.00001
|
NM_152419.3(HGSNAT):c.713C>T (p.Pro238Leu)
|
rs1218261294
|
0.00001
|
NM_152419.3(HGSNAT):c.722G>A (p.Arg241His)
|
rs1231838743
|
0.00001
|
NM_152419.3(HGSNAT):c.762G>A (p.Met254Ile)
|
rs751701983
|
0.00001
|
NM_152419.3(HGSNAT):c.7G>C (p.Gly3Arg)
|
rs1387365931
|
0.00001
|
NM_152419.3(HGSNAT):c.838C>T (p.Leu280Phe)
|
rs1245295975
|
0.00001
|
NM_152419.3(HGSNAT):c.841G>A (p.Val281Met)
|
rs1287447019
|
0.00001
|
NM_152419.3(HGSNAT):c.852G>T (p.Trp284Cys)
|
rs777146364
|
0.00001
|
NM_152419.3(HGSNAT):c.887C>T (p.Ser296Leu)
|
rs372933126
|
0.00001
|
NM_152419.3(HGSNAT):c.89G>C (p.Gly30Ala)
|
rs1490698793
|
0.00001
|
NM_152419.3(HGSNAT):c.940A>G (p.Ile314Val)
|
rs1446334240
|
0.00001
|
NM_153747.2(PIGC):c.574C>T (p.Arg192Cys)
|
rs768479943
|
0.00001
|
NM_175914.5(HNF4A):c.*2511A>G
|
rs1277613130
|
0.00001
|
NM_175914.5(HNF4A):c.*2558T>C
|
rs886056688
|
0.00001
|
NM_175914.5(HNF4A):c.*2639T>G
|
rs886056690
|
0.00001
|
NM_175914.5(HNF4A):c.*3120T>C
|
rs886056704
|
0.00001
|
NM_175914.5(HNF4A):c.*765G>A
|
rs886056681
|
0.00001
|
NM_175914.5(HNF4A):c.*782G>A
|
rs886056682
|
0.00001
|
NM_175914.5(HNF4A):c.-79C>T
|
rs373143621
|
0.00001
|
NM_175914.5(HNF4A):c.1138G>A (p.Val380Ile)
|
rs137853337
|
0.00001
|
NM_175914.5(HNF4A):c.1177G>A (p.Gly393Arg)
|
rs757897768
|
0.00001
|
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser)
|
rs150776703
|
0.00001
|
NM_175914.5(HNF4A):c.196G>A (p.Val66Met)
|
rs369182343
|
0.00001
|
NM_175914.5(HNF4A):c.232C>T (p.Arg78Trp)
|
rs780813696
|
0.00001
|
NM_175914.5(HNF4A):c.341G>A (p.Arg114Gln)
|
rs149611886
|
0.00001
|
NM_175914.5(HNF4A):c.481A>G (p.Ser161Gly)
|
rs779555087
|
0.00001
|
NM_175914.5(HNF4A):c.562G>A (p.Glu188Lys)
|
rs771156648
|
0.00001
|
NM_175914.5(HNF4A):c.582+4A>G
|
rs376287515
|
0.00001
|
NM_175914.5(HNF4A):c.587C>A (p.Ala196Asp)
|
rs1032164393
|
0.00001
|
NM_175914.5(HNF4A):c.714G>C (p.Glu238Asp)
|
rs1259110384
|
0.00001
|
NM_175914.5(HNF4A):c.723G>C (p.Arg241=)
|
rs372639360
|
0.00001
|
NM_175914.5(HNF4A):c.76C>A (p.Leu26Ile)
|
rs753285226
|
0.00001
|
NM_175914.5(HNF4A):c.844G>A (p.Asp282Asn)
|
rs145902391
|
0.00001
|
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)
|
rs193922479
|
0.00001
|
NM_198586.3(NHLRC1):c.*537T>C
|
rs935643502
|
0.00001
|
NM_198586.3(NHLRC1):c.*61C>A
|
rs886061252
|
0.00001
|
NM_198586.3(NHLRC1):c.1013C>T (p.Thr338Ile)
|
rs1388505858
|
0.00001
|
NM_198586.3(NHLRC1):c.1053G>C (p.Glu351Asp)
|
rs377395116
|
0.00001
|
NM_198586.3(NHLRC1):c.1058C>T (p.Pro353Leu)
|
rs1440601226
|
0.00001
|
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp)
|
rs372993582
|
0.00001
|
NM_198586.3(NHLRC1):c.1132C>G (p.Leu378Val)
|
rs778364234
|
0.00001
|
NM_198586.3(NHLRC1):c.1165G>T (p.Val389Phe)
|
rs541460675
|
0.00001
|
NM_198586.3(NHLRC1):c.1166T>A (p.Val389Asp)
|
rs562100142
|
0.00001
|
NM_198586.3(NHLRC1):c.218G>A (p.Arg73Gln)
|
rs1280991443
|
0.00001
|
NM_198586.3(NHLRC1):c.243C>A (p.Ser81Arg)
|
rs1174745955
|
0.00001
|
NM_198586.3(NHLRC1):c.254C>G (p.Pro85Arg)
|
rs371218834
|
0.00001
|
NM_198586.3(NHLRC1):c.307G>T (p.Ala103Ser)
|
rs568131096
|
0.00001
|
NM_198586.3(NHLRC1):c.313C>A (p.Arg105Ser)
|
rs909097062
|
0.00001
|
NM_198586.3(NHLRC1):c.322C>T (p.Pro108Ser)
|
rs1467326281
|
0.00001
|
NM_198586.3(NHLRC1):c.374C>A (p.Thr125Asn)
|
rs1085307861
|
0.00001
|
NM_198586.3(NHLRC1):c.389C>A (p.Thr130Asn)
|
rs1294825458
|
0.00001
|
NM_198586.3(NHLRC1):c.415G>A (p.Gly139Arg)
|
rs1783749311
|
0.00001
|
NM_198586.3(NHLRC1):c.418C>T (p.Arg140Cys)
|
rs148035405
|
0.00001
|
NM_198586.3(NHLRC1):c.48G>A (p.Met16Ile)
|
rs1233490914
|
0.00001
|
NM_198586.3(NHLRC1):c.49C>A (p.Arg17Ser)
|
rs368134036
|
0.00001
|
NM_198586.3(NHLRC1):c.52G>C (p.Glu18Gln)
|
rs771805307
|
0.00001
|
NM_198586.3(NHLRC1):c.584A>G (p.Asp195Gly)
|
rs367649330
|
0.00001
|
NM_198586.3(NHLRC1):c.599T>C (p.Val200Ala)
|
rs746239356
|
0.00001
|
NM_198586.3(NHLRC1):c.5C>A (p.Ala2Glu)
|
rs963295265
|
0.00001
|
NM_198586.3(NHLRC1):c.612T>G (p.Phe204Leu)
|
rs201058506
|
0.00001
|
NM_198586.3(NHLRC1):c.659G>A (p.Gly220Asp)
|
rs1449381352
|
0.00001
|
NM_198586.3(NHLRC1):c.713C>G (p.Ser238Cys)
|
rs747276703
|
0.00001
|
NM_198586.3(NHLRC1):c.755G>A (p.Arg252Gln)
|
rs371072212
|
0.00001
|
NM_198586.3(NHLRC1):c.773A>G (p.Gln258Arg)
|
rs377025668
|
0.00001
|
NM_198586.3(NHLRC1):c.782T>C (p.Leu261Pro)
|
rs879745047
|
0.00001
|
NM_198586.3(NHLRC1):c.787A>C (p.Asn263His)
|
rs749287999
|
0.00001
|
NM_198586.3(NHLRC1):c.791C>G (p.Pro264Arg)
|
rs796052756
|
0.00001
|
NM_198586.3(NHLRC1):c.808T>G (p.Ser270Ala)
|
rs755474952
|
0.00001
|
NM_198586.3(NHLRC1):c.821G>T (p.Gly274Val)
|
rs1281512045
|
0.00001
|
NM_198586.3(NHLRC1):c.913G>A (p.Gly305Ser)
|
rs752220824
|
0.00001
|
NM_198586.3(NHLRC1):c.970G>A (p.Ala324Thr)
|
rs776454075
|
0.00001
|
NM_213606.4(SLC16A12):c.122C>A (p.Ser41Tyr)
|
rs1235291781
|
0.00001
|
NM_213606.4(SLC16A12):c.305-9T>C
|
rs749441853
|
0.00001
|
NM_213606.4(SLC16A12):c.610C>T (p.Arg204Trp)
|
rs758404955
|
0.00001
|
NM_213606.4(SLC16A12):c.758C>T (p.Ser253Phe)
|
rs773706712
|
0.00001
|
G6PD NARA
|
rs587776730
|
|
GCK:c.864-159_864-149del
|
rs386134235
|
|
GRCh37/hg19 11p15.1(chr11:17448546-17453841)x3
|
|
|
GRCh38/hg38 Xq27.3-28(chrX:143293592-149749234)
|
|
|
NC_000001.10:g.(?_100314640)_(100390579_?)dup
|
|
|
NC_000001.10:g.(?_100316579)_(100387227_?)dup
|
|
|
NC_000001.10:g.(?_100327039)_(100330165_?)del
|
|
|
NC_000001.10:g.(?_24172205)_(24172683_?)dup
|
|
|
NC_000001.10:g.(?_24172205)_(24194776_?)dup
|
|
|
NC_000003.11:g.(?_15643358)_(15643421_?)dup
|
|
|
NC_000003.11:g.(?_15643358)_(15687154_?)dup
|
|
|
NC_000003.11:g.(?_168802697)_(172835521_?)dup
|
|
|
NC_000003.11:g.(?_57130421)_(58520833_?)del
|
|
|
NC_000003.11:g.(?_58419338)_(58419536_?)dup
|
|
|
NC_000003.11:g.(?_81539558)_(81754784_?)dup
|
|
|
NC_000003.11:g.(?_81539558)_(81810668_?)dup
|
|
|
NC_000003.11:g.(?_81548251)_(81548388_?)dup
|
|
|
NC_000003.11:g.(?_81691912)_(81810668_?)dup
|
|
|
NC_000003.12:g.(?_58428014)_(58431813_?)del
|
|
|
NC_000003.12:g.33097285A>C
|
|
|
NC_000004.11:g.(?_108816710)_(108955513_?)dup
|
|
|
NC_000004.11:g.(?_108911069)_(108955533_?)dup
|
|
|
NC_000004.11:g.(?_178352862)_(178363529_?)dup
|
|
|
NC_000004.11:g.(?_38765721)_(41750627_?)dup
|
|
|
NC_000004.11:g.(?_39459814)_(39528725_?)dup
|
|
|
NC_000004.11:g.(?_39460510)_(39460802_?)dup
|
|
|
NC_000004.11:g.(?_39460718)_(39478755_?)dup
|
|
|
NC_000004.11:g.(?_39460738)_(39478735_?)dup
|
|
|
NC_000004.11:g.(?_980871)_(981050_?)dup
|
|
|
NC_000004.11:g.(?_980871)_(985491_?)dup
|
|
|
NC_000004.12:g.(?_102650517)_(102726703_?)del
|
|
|
NC_000004.12:g.(?_177431688)_(177442395_?)dup
|
|
|
NC_000005.9:g.(?_78135159)_(78281071_?)dup
|
|
|
NC_000006.11:g.(?_74189435)_(74363609_?)dup
|
|
|
NC_000006.11:g.(?_74304780)_(74363629_?)dup
|
|
|
NC_000006.11:g.(?_74304800)_(74310184_?)dup
|
|
|
NC_000007.13:g.(?_150642453)_(151573705_?)del
|
|
|
NC_000007.13:g.(?_151252200)_(151575316_?)del
|
|
|
NC_000007.13:g.(?_151252200)_(151575316_?)dup
|
|
|
NC_000007.13:g.(?_151254277)_(151254328_?)del
|
|
|
NC_000007.13:g.(?_151262800)_(152373170_?)del
|
|
|
NC_000007.13:g.(?_151372486)_(151372743_?)del
|
|
|
NC_000007.13:g.(?_151372486)_(151372743_?)dup
|
|
|
NC_000007.13:g.(?_151372486)_(151483647_?)dup
|
|
|
NC_000007.13:g.(?_151478218)_(151483647_?)del
|
|
|
NC_000007.13:g.(?_151478218)_(151573705_?)dup
|
|
|
NC_000007.13:g.(?_151478228)_(151573715_?)dup
|
|
|
NC_000007.13:g.(?_151573582)_(151573715_?)dup
|
|
|
NC_000007.13:g.(?_44102363)_(44105128_?)dup
|
|
|
NC_000007.13:g.(?_65425884)_(65447170_?)dup
|
|
|
NC_000007.14:g.(?_65960877)_(65982203_?)dup
|
|
|
NC_000008.10:g.(?_15397940)_(15615318_?)dup
|
|
|
NC_000008.10:g.(?_15588155)_(15615318_?)del
|
|
|
NC_000008.10:g.(?_15601027)_(15621747_?)dup
|
|
|
NC_000008.10:g.(?_42958672)_(43054732_?)dup
|
|
|
NC_000008.10:g.(?_42958692)_(43016670_?)dup
|
|
|
NC_000008.10:g.(?_42958692)_(43054712_?)dup
|
|
|
NC_000008.10:g.(?_43002091)_(43159912_?)dup
|
|
|
NC_000008.10:g.(?_43013698)_(43054712_?)dup
|
|
|
NC_000008.10:g.(?_43024296)_(43054712_?)dup
|
|
|
NC_000008.10:g.(?_43027433)_(43054712_?)dup
|
|
|
NC_000008.10:g.(?_43033197)_(43054712_?)dup
|
|
|
NC_000008.10:g.(?_43037268)_(43054712_?)dup
|
|
|
NC_000008.10:g.(?_43046597)_(43054712_?)dup
|
|
|
NC_000008.10:g.(?_43052071)_(43054712_?)dup
|
|
|
NC_000008.11:g.(?_43083118)_(43304769_?)dup
|
|
|
NC_000008.11:g.(?_43139449)_(43203827_?)dup
|
|
|
NC_000008.11:g.(?_43140487)_(43199579_?)dup
|
|
|
NC_000009.11:g.(?_135139626)_(140034216_?)dup
|
|
|
NC_000009.11:g.(?_140000557)_(140003043_?)dup
|
|
|
NC_000009.11:g.(?_32453279)_(37785041_?)dup
|
|
|
NC_000009.11:g.(?_97365663)_(97372363_?)dup
|
|
|
NC_000009.11:g.(?_97365663)_(97401592_?)dup
|
|
|
NC_000009.12:g.34646581A>C
|
|
|
NC_000010.10:g.(?_88811508)_(88822612_?)dup
|
|
|
NC_000010.10:g.(?_88854062)_(88854526_?)del
|
|
|
NC_000011.10:g.17476889C>A
|
rs886048056
|
|
NC_000011.10:g.17477161C>A
|
rs1052653345
|
|
NC_000011.9:g.(?_111171709)_(112104278_?)dup
|
|
|
NC_000011.9:g.(?_111896177)_(111922093_?)del
|
|
|
NC_000011.9:g.(?_111896197)_(111899689_?)del
|
|
|
NC_000011.9:g.(?_111896197)_(111922093_?)dup
|
|
|
NC_000011.9:g.(?_117856768)_(118972385_?)dup
|
|
|
NC_000011.9:g.(?_118895600)_(118972385_?)dup
|
|
|
NC_000011.9:g.(?_18301429)_(18428828_?)dup
|
|
|
NC_000011.9:g.(?_18420958)_(18428828_?)dup
|
|
|
NC_000011.9:g.(?_18428644)_(18428828_?)dup
|
|
|
NC_000011.9:g.(?_64520525)_(64523631_?)dup
|
|
|
NC_000012.11:g.(?_65110521)_(65153056_?)dup
|
|
|
NC_000012.12:g.(?_64747692)_(64747938_?)del
|
|
|
NC_000014.8:g.(?_51379727)_(51387805_?)dup
|
|
|
NC_000016.9:g.(?_29802081)_(30199917_?)del
|
|
|
NC_000016.9:g.(?_29802081)_(30199917_?)dup
|
|
|
NC_000016.9:g.(?_30066083)_(30081533_?)dup
|
|
|
NC_000016.9:g.(?_46694384)_(48258199_?)dup
|
|
|
NC_000016.9:g.(?_47531290)_(47531419_?)dup
|
|
|
NC_000016.9:g.(?_47682424)_(47684852_?)del
|
|
|
NC_000016.9:g.(?_47682424)_(47684852_?)dup
|
|
|
NC_000016.9:g.(?_47722932)_(47733277_?)dup
|
|
|
NC_000016.9:g.(?_87960334)_(87960571_?)del
|
|
|
NC_000016.9:g.(?_88798723)_(88909257_?)dup
|
|
|
NC_000016.9:g.(?_88908285)_(88908399_?)dup
|
|
|
NC_000017.10:g.(?_40688291)_(40690793_?)dup
|
|
|
NC_000017.10:g.(?_40688291)_(40729741_?)dup
|
|
|
NC_000017.10:g.(?_41052894)_(41053143_?)dup
|
|
|
NC_000017.10:g.(?_41059520)_(41063443_?)dup
|
|
|
NC_000017.10:g.(?_68171181)_(68172464_?)del
|
|
|
NC_000017.10:g.(?_68171181)_(68172464_?)dup
|
|
|
NC_000017.10:g.(?_78078341)_(78093140_?)dup
|
|
|
NC_000017.10:g.(?_78078341)_(78093150_?)dup
|
|
|
NC_000017.10:g.(?_78090747)_(78110154_?)dup
|
|
|
NC_000017.10:g.(?_78090757)_(78093140_?)dup
|
|
|
NC_000017.10:g.(?_78109289)_(78272338_?)dup
|
|
|
NC_000017.10:g.(?_78187951)_(78247223_?)dup
|
|
|
NC_000017.10:g.(?_78188394)_(78194112_?)dup
|
|
|
NC_000019.10:g.(?_48977904)_(48993132_?)dup
|
|
|
NC_000019.10:g.(?_48977914)_(48993363_?)dup
|
|
|
NC_000019.10:g.(?_48987184)_(48987395_?)del
|
|
|
NC_000019.9:g.(?_10828919)_(13482613_?)dup
|
|
|
NC_000019.9:g.(?_12772054)_(12777515_?)dup
|
|
|
NC_000019.9:g.(?_49472545)_(49486114_?)dup
|
|
|
NC_000019.9:g.(?_49472545)_(49496369_?)dup
|
|
|
NC_000019.9:g.(?_49481161)_(49489312_?)del
|
|
|
NC_000019.9:g.(?_49494539)_(49496369_?)dup
|
|
|
NC_000020.10:g.(?_389363)_(411094_?)dup
|
|
|
NC_000020.10:g.(?_389402)_(390689_?)dup
|
|
|
NC_000020.10:g.(?_401495)_(443049_?)dup
|
|
|
NC_000020.11:g.(?_408719)_(765794_?)dup
|
|
|
NC_000021.8:g.(?_37133458)_(38311203_?)dup
|
|
|
NC_000021.9:g.(?_36930231)_(36930453_?)dup
|
|
|
NC_000022.10:g.(?_32439269)_(32464607_?)dup
|
|
|
NC_000022.10:g.(?_32439269)_(32506200_?)dup
|
|
|
NC_000022.10:g.(?_32477833)_(32506200_?)dup
|
|
|
NC_000022.10:g.(?_32500753)_(32894517_?)dup
|
|
|
NC_000023.10:g.(?_118986730)_(119603030_?)dup
|
|
|
NC_000023.10:g.(?_119565178)_(119565337_?)dup
|
|
|
NC_000023.10:g.(?_119565178)_(119581900_?)dup
|
|
|
NC_000023.10:g.(?_119602955)_(119603030_?)dup
|
|
|
NC_000023.10:g.(?_148564257)_(148586687_?)dup
|
|
|
NC_000023.10:g.(?_148564277)_(148564769_?)dup
|
|
|
NC_000023.10:g.(?_148564277)_(148586667_?)dup
|
|
|
NC_000023.10:g.(?_148579628)_(148579848_?)dup
|
|
|
NC_000023.10:g.(?_148582460)_(148586667_?)dup
|
|
|
NC_000023.10:g.(?_153640181)_(153775961_?)dup
|
|
|
NC_000023.10:g.(?_153760215)_(153764413_?)dup
|
|
|
NC_000023.10:g.(?_153760215)_(153775961_?)dup
|
|
|
NC_000023.10:g.(?_153762230)_(153775961_?)dup
|
|
|
NC_000023.10:g.(?_17393881)_(20284750_?)dup
|
|
|
NC_000023.10:g.(?_19368035)_(19377771_?)dup
|
|
|
NC_000023.10:g.(?_71854985)_(71933728_?)dup
|
|
|
NC_000023.10:g.(?_71875950)_(71925114_?)dup
|
|
|
NC_000023.11:g.(?_120431313)_(120469179_?)dup
|
|
|
NC_000023.11:g.154534338dup
|
rs2148330517
|
|
NC_000023.11:g.18905859_18905861del
|
rs2047801126
|
|
NG_008005.1:g.8384_8763AACATGCAGGNGGAGGAGGGTGAGAGTTCGTG[29-32]
|
|
|
NM_000027.3(AGA):c.-127_-123delGGGAC
|
rs886059265
|
|
NM_000027.4(AGA):c.*13G>C
|
rs1736640377
|
|
NM_000027.4(AGA):c.*35G>C
|
rs767154296
|
|
NM_000027.4(AGA):c.*3C>T
|
rs1736640740
|
|
NM_000027.4(AGA):c.*680G>A
|
rs886059259
|
|
NM_000027.4(AGA):c.*819CT[2]
|
rs146345347
|
|
NM_000027.4(AGA):c.*851G>A
|
rs186184411
|
|
NM_000027.4(AGA):c.*856C>G
|
rs1736607561
|
|
NM_000027.4(AGA):c.*915G>A
|
rs745380599
|
|
NM_000027.4(AGA):c.1000G>A (p.Glu334Lys)
|
|
|
NM_000027.4(AGA):c.1000G>T (p.Glu334Ter)
|
|
|
NM_000027.4(AGA):c.1006A>C (p.Asn336His)
|
rs151105390
|
|
NM_000027.4(AGA):c.1007del (p.Asn336fs)
|
|
|
NM_000027.4(AGA):c.1007dup (p.Asn336fs)
|
|
|
NM_000027.4(AGA):c.1033T>C (p.Cys345Arg)
|
|
|
NM_000027.4(AGA):c.104C>T (p.Pro35Leu)
|
|
|
NM_000027.4(AGA):c.127+5G>A
|
rs1327701669
|
|
NM_000027.4(AGA):c.128-7dup
|
rs1736960600
|
|
NM_000027.4(AGA):c.128C>T (p.Ala43Val)
|
|
|
NM_000027.4(AGA):c.14C>T (p.Ser5Leu)
|
|
|
NM_000027.4(AGA):c.179G>A (p.Gly60Asp)
|
rs121964907
|
|
NM_000027.4(AGA):c.197G>C (p.Arg66Thr)
|
|
|
NM_000027.4(AGA):c.224T>C (p.Phe75Ser)
|
rs757065230
|
|
NM_000027.4(AGA):c.230G>A (p.Gly77Glu)
|
|
|
NM_000027.4(AGA):c.238G>C (p.Asp80His)
|
|
|
NM_000027.4(AGA):c.243A>T (p.Glu81Asp)
|
|
|
NM_000027.4(AGA):c.248G>A (p.Gly83Glu)
|
rs903884327
|
|
NM_000027.4(AGA):c.276G>A (p.Met92Ile)
|
|
|
NM_000027.4(AGA):c.279T>A (p.Asp93Glu)
|
|
|
NM_000027.4(AGA):c.280G>C (p.Gly94Arg)
|
|
|
NM_000027.4(AGA):c.281+12_281+13delinsAG
|
|
|
NM_000027.4(AGA):c.290T>C (p.Met97Thr)
|
|
|
NM_000027.4(AGA):c.292G>T (p.Asp98Tyr)
|
|
|
NM_000027.4(AGA):c.308G>A (p.Gly103Glu)
|
rs1736932419
|
|
NM_000027.4(AGA):c.308_310del (p.Gly103del)
|
rs1553994762
|
|
NM_000027.4(AGA):c.311A>T (p.Asp104Val)
|
|
|
NM_000027.4(AGA):c.312T>G (p.Asp104Glu)
|
|
|
NM_000027.4(AGA):c.334A>G (p.Ile112Val)
|
rs925345330
|
|
NM_000027.4(AGA):c.338G>A (p.Gly113Asp)
|
|
|
NM_000027.4(AGA):c.340G>A (p.Val114Met)
|
|
|
NM_000027.4(AGA):c.34G>C (p.Val12Leu)
|
rs74626221
|
|
NM_000027.4(AGA):c.34G>T (p.Val12Leu)
|
rs74626221
|
|
NM_000027.4(AGA):c.365C>A (p.Thr122Lys)
|
rs771563230
|
|
NM_000027.4(AGA):c.394+6T>C
|
|
|
NM_000027.4(AGA):c.428A>G (p.Asn143Ser)
|
|
|
NM_000027.4(AGA):c.449C>T (p.Ala150Val)
|
rs1202403932
|
|
NM_000027.4(AGA):c.454C>A (p.Gln152Lys)
|
|
|
NM_000027.4(AGA):c.46C>T (p.Leu16Phe)
|
|
|
NM_000027.4(AGA):c.481C>T (p.Arg161Trp)
|
|
|
NM_000027.4(AGA):c.507+5G>C
|
rs1472514068
|
|
NM_000027.4(AGA):c.530A>G (p.Lys177Arg)
|
rs1189458949
|
|
NM_000027.4(AGA):c.535T>C (p.Cys179Arg)
|
rs1187962299
|
|
NM_000027.4(AGA):c.537C>A (p.Cys179Ter)
|
rs748171793
|
|
NM_000027.4(AGA):c.545A>G (p.Tyr182Cys)
|
|
|
NM_000027.4(AGA):c.557G>C (p.Gly186Ala)
|
|
|
NM_000027.4(AGA):c.559A>G (p.Ile187Val)
|
rs2111015706
|
|
NM_000027.4(AGA):c.571G>C (p.Asp191His)
|
rs766110192
|
|
NM_000027.4(AGA):c.585T>C (p.His195=)
|
rs1736860088
|
|
NM_000027.4(AGA):c.611A>T (p.His204Leu)
|
|
|
NM_000027.4(AGA):c.620T>C (p.Ile207Thr)
|
|
|
NM_000027.4(AGA):c.623-3T>C
|
|
|
NM_000027.4(AGA):c.693A>G (p.Ile231Met)
|
rs1579042146
|
|
NM_000027.4(AGA):c.698+1G>T
|
rs1057517175
|
|
NM_000027.4(AGA):c.699-7C>T
|
rs886059260
|
|
NM_000027.4(AGA):c.700C>T (p.Arg234Cys)
|
|
|
NM_000027.4(AGA):c.701G>A (p.Arg234His)
|
|
|
NM_000027.4(AGA):c.705A>C (p.Val235=)
|
|
|
NM_000027.4(AGA):c.719T>C (p.Ile240Thr)
|
rs1288215227
|
|
NM_000027.4(AGA):c.722C>A (p.Pro241His)
|
|
|
NM_000027.4(AGA):c.745G>A (p.Asp249Asn)
|
|
|
NM_000027.4(AGA):c.755G>A (p.Gly252Glu)
|
rs386833433
|
|
NM_000027.4(AGA):c.757G>A (p.Ala253Thr)
|
rs1736735409
|
|
NM_000027.4(AGA):c.763G>A (p.Ala255Thr)
|
|
|
NM_000027.4(AGA):c.76C>T (p.Pro26Ser)
|
|
|
NM_000027.4(AGA):c.776A>T (p.Asn259Ile)
|
|
|
NM_000027.4(AGA):c.791T>C (p.Met264Thr)
|
rs1404090170
|
|
NM_000027.4(AGA):c.806+13_806+16del
|
rs369977700
|
|
NM_000027.4(AGA):c.807-3C>T
|
|
|
NM_000027.4(AGA):c.809A>G (p.Tyr270Cys)
|
|
|
NM_000027.4(AGA):c.833GAG[1] (p.Gly279del)
|
rs764622951
|
|
NM_000027.4(AGA):c.844C>G (p.Pro282Ala)
|
rs2111006963
|
|
NM_000027.4(AGA):c.854C>G (p.Ala285Gly)
|
|
|
NM_000027.4(AGA):c.865G>A (p.Val289Met)
|
|
|
NM_000027.4(AGA):c.874A>G (p.Arg292Gly)
|
|
|
NM_000027.4(AGA):c.900C>A (p.Phe300Leu)
|
rs2111006859
|
|
NM_000027.4(AGA):c.902T>G (p.Phe301Cys)
|
rs35916166
|
|
NM_000027.4(AGA):c.914T>A (p.Ile305Lys)
|
|
|
NM_000027.4(AGA):c.914T>G (p.Ile305Arg)
|
|
|
NM_000027.4(AGA):c.915A>G (p.Ile305Met)
|
|
|
NM_000027.4(AGA):c.923A>G (p.Asn308Ser)
|
|
|
NM_000027.4(AGA):c.935G>A (p.Ser312Asn)
|
|
|
NM_000027.4(AGA):c.938dup (p.Tyr313Ter)
|
|
|
NM_000027.4(AGA):c.939C>T (p.Tyr313=)
|
|
|
NM_000027.4(AGA):c.95A>C (p.Asn32Thr)
|
rs886059262
|
|
NM_000027.4(AGA):c.978T>G (p.Phe326Leu)
|
rs373878347
|
|
NM_000030.3(AGXT):c.*162A>G
|
rs886055844
|
|
NM_000030.3(AGXT):c.*194A>T
|
rs2059043450
|
|
NM_000030.3(AGXT):c.1046G>A (p.Gly349Asp)
|
rs2059038329
|
|
NM_000030.3(AGXT):c.1065G>A (p.Thr355=)
|
rs143488099
|
|
NM_000030.3(AGXT):c.1065G>C (p.Thr355=)
|
rs143488099
|
|
NM_000030.3(AGXT):c.1072-91G>A
|
rs180177159
|
|
NM_000030.3(AGXT):c.165+12G>C
|
rs201989825
|
|
NM_000030.3(AGXT):c.165+16A>G
|
rs66494441
|
|
NM_000030.3(AGXT):c.165+19_166-48dup
|
rs180177174
|
|
NM_000030.3(AGXT):c.166-47T>C
|
rs180177178
|
|
NM_000030.3(AGXT):c.166-54C>T
|
rs180177179
|
|
NM_000030.3(AGXT):c.166-57C>T
|
rs180177175
|
|
NM_000030.3(AGXT):c.174C>A (p.Asp58Glu)
|
rs761756536
|
|
NM_000030.3(AGXT):c.224C>A (p.Thr75Lys)
|
|
|
NM_000030.3(AGXT):c.260_271del (p.Glu87_Leu90del)
|
rs1553648333
|
|
NM_000030.3(AGXT):c.265G>A (p.Ala89Thr)
|
|
|
NM_000030.3(AGXT):c.285G>T (p.Glu95Asp)
|
|
|
NM_000030.3(AGXT):c.28C>G (p.Pro10Ala)
|
rs180177191
|
|
NM_000030.3(AGXT):c.31C>G (p.Pro11Ala)
|
rs375712696
|
|
NM_000030.3(AGXT):c.32C>A (p.Pro11His)
|
rs34116584
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000030.3(AGXT):c.341A>G (p.Asp114Gly)
|
rs1395056195
|
|
NM_000030.3(AGXT):c.353G>C (p.Arg118Pro)
|
|
|
NM_000030.3(AGXT):c.358+56_358+64del
|
rs180177209
|
|
NM_000030.3(AGXT):c.358G>A (p.Gly120Arg)
|
rs747043550
|
|
NM_000030.3(AGXT):c.385G>C (p.Asp129His)
|
rs180177212
|
|
NM_000030.3(AGXT):c.423+36A>C
|
rs180177216
|
|
NM_000030.3(AGXT):c.423G>C (p.Glu141Asp)
|
rs180177217
|
|
NM_000030.3(AGXT):c.424-12dup
|
rs398122323
|
|
NM_000030.3(AGXT):c.491A>T (p.Gln164Leu)
|
rs528938116
|
|
NM_000030.3(AGXT):c.506T>C (p.Phe169Ser)
|
|
|
NM_000030.3(AGXT):c.524+3G>A
|
rs886055839
|
|
NM_000030.3(AGXT):c.52C>T (p.Leu18Phe)
|
|
|
NM_000030.3(AGXT):c.536T>C (p.Leu179Pro)
|
|
|
NM_000030.3(AGXT):c.637G>A (p.Ala213Thr)
|
rs1200591457
|
|
NM_000030.3(AGXT):c.683AGA[3] (p.Lys229dup)
|
rs1553648979
|
|
NM_000030.3(AGXT):c.710C>T (p.Pro237Leu)
|
|
|
NM_000030.3(AGXT):c.774G>T (p.Arg258Ser)
|
|
|
NM_000030.3(AGXT):c.781C>G (p.His261Asp)
|
rs778567956
|
|
NM_000030.3(AGXT):c.799A>T (p.Ile267Phe)
|
|
|
NM_000030.3(AGXT):c.809A>G (p.Tyr270Cys)
|
|
|
NM_000030.3(AGXT):c.80G>A (p.Gly27Glu)
|
|
|
NM_000030.3(AGXT):c.815T>C (p.Leu272Pro)
|
|
|
NM_000030.3(AGXT):c.827T>A (p.Leu276Gln)
|
|
|
NM_000030.3(AGXT):c.837T>G (p.Ile279Met)
|
rs180177277
|
|
NM_000030.3(AGXT):c.839C>T (p.Ala280Val)
|
rs73106685
|
|
NM_000030.3(AGXT):c.845A>G (p.Gln282Arg)
|
rs180177280
|
|
NM_000030.3(AGXT):c.876C>A (p.Arg292=)
|
rs763852365
|
|
NM_000030.3(AGXT):c.950G>A (p.Arg317Gln)
|
rs200317876
|
|
NM_000035.4(ALDOB):c.*145A>G
|
rs552865615
|
|
NM_000035.4(ALDOB):c.*150del
|
rs200345626
|
|
NM_000035.4(ALDOB):c.*26C>T
|
rs1831050459
|
|
NM_000035.4(ALDOB):c.*289C>G
|
rs886063290
|
|
NM_000035.4(ALDOB):c.*683T>C
|
rs1831039987
|
|
NM_000035.4(ALDOB):c.*714A>G
|
rs886063289
|
|
NM_000035.4(ALDOB):c.*729G>C
|
rs1831039466
|
|
NM_000035.4(ALDOB):c.*802A>G
|
rs886063288
|
|
NM_000035.4(ALDOB):c.1063C>T (p.Gln355Ter)
|
rs1554702065
|
|
NM_000035.4(ALDOB):c.113-7A>C
|
rs1588172399
|
|
NM_000035.4(ALDOB):c.137G>A (p.Arg46Lys)
|
rs199920124
|
|
NM_000035.4(ALDOB):c.178C>A (p.Arg60=)
|
rs118204429
|
|
NM_000035.4(ALDOB):c.221T>C (p.Ile74Thr)
|
rs781023784
|
|
NM_000035.4(ALDOB):c.264C>A (p.Asp88Glu)
|
rs200585150
|
|
NM_000035.4(ALDOB):c.264C>T (p.Asp88=)
|
rs200585150
|
|
NM_000035.4(ALDOB):c.282C>T (p.Phe94=)
|
rs549682194
|
|
NM_000035.4(ALDOB):c.306_317dup (p.Val104_Ile107dup)
|
rs1376128325
|
|
NM_000035.4(ALDOB):c.341C>T (p.Ala114Val)
|
|
|
NM_000035.4(ALDOB):c.346C>T (p.Leu116Phe)
|
|
|
NM_000035.4(ALDOB):c.375T>C (p.Ile125=)
|
rs886063292
|
|
NM_000035.4(ALDOB):c.37A>C (p.Lys13Gln)
|
|
|
NM_000035.4(ALDOB):c.466G>A (p.Asp156Asn)
|
rs752810910
|
|
NM_000035.4(ALDOB):c.472T>A (p.Cys158Ser)
|
rs1386846765
|
|
NM_000035.4(ALDOB):c.486C>G (p.Leu162=)
|
rs773334784
|
|
NM_000035.4(ALDOB):c.486C>T (p.Leu162=)
|
rs773334784
|
|
NM_000035.4(ALDOB):c.505A>G (p.Asn169Asp)
|
rs1460923575
|
|
NM_000035.4(ALDOB):c.508G>A (p.Ala170Thr)
|
|
|
NM_000035.4(ALDOB):c.529A>C (p.Ile177Leu)
|
rs139442303
|
|
NM_000035.4(ALDOB):c.529A>G (p.Ile177Val)
|
rs139442303
|
|
NM_000035.4(ALDOB):c.556A>G (p.Ile186Val)
|
|
|
NM_000035.4(ALDOB):c.664G>T (p.Val222Phe)
|
rs1554702442
|
|
NM_000035.4(ALDOB):c.680C>A (p.Thr227Asn)
|
rs371219301
|
|
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro)
|
rs1554702433
|
|
NM_000035.4(ALDOB):c.733A>G (p.Thr245Ala)
|
rs748031490
|
|
NM_000035.4(ALDOB):c.759C>T (p.Thr253=)
|
rs146360505
|
|
NM_000035.4(ALDOB):c.76A>T (p.Asn26Tyr)
|
|
|
NM_000035.4(ALDOB):c.794T>C (p.Val265Ala)
|
|
|
NM_000035.4(ALDOB):c.806_808del (p.Cys269del)
|
rs1159180033
|
|
NM_000035.4(ALDOB):c.934G>A (p.Ala312Thr)
|
|
|
NM_000035.4(ALDOB):c.971C>T (p.Thr324Ile)
|
rs2118341906
|
|
NM_000035.4(ALDOB):c.992G>A (p.Arg331Gln)
|
rs371526091
|
|
NM_000046.3(ARSB):c.-1015A>G
|
rs886060801
|
|
NM_000046.3(ARSB):c.-855dup
|
rs574333268
|
|
NM_000046.4(ARSB):c.-112G>C
|
rs886060798
|
|
NM_000046.4(ARSB):c.-276T>C
|
rs534158632
|
|
NM_000046.5(ARSB):c.*1147G>A
|
rs886060792
|
|
NM_000046.5(ARSB):c.*1276C>G
|
rs886060790
|
|
NM_000046.5(ARSB):c.*1286C>T
|
rs886060789
|
|
NM_000046.5(ARSB):c.*1360T>A
|
rs886060788
|
|
NM_000046.5(ARSB):c.*1372dup
|
rs551749278
|
|
NM_000046.5(ARSB):c.*1387C>T
|
rs555581069
|
|
NM_000046.5(ARSB):c.*1499C>G
|
rs886060787
|
|
NM_000046.5(ARSB):c.*1539dup
|
rs886060785
|
|
NM_000046.5(ARSB):c.*1899dup
|
rs886060784
|
|
NM_000046.5(ARSB):c.*1989C>T
|
rs878926507
|
|
NM_000046.5(ARSB):c.*2080G>A
|
rs886060783
|
|
NM_000046.5(ARSB):c.*2092A>T
|
rs1748827572
|
|
NM_000046.5(ARSB):c.*2155C>T
|
rs1748825888
|
|
NM_000046.5(ARSB):c.*2158C>T
|
rs1463642631
|
|
NM_000046.5(ARSB):c.*2524A>T
|
rs868066675
|
|
NM_000046.5(ARSB):c.*2525A>T
|
rs867923783
|
|
NM_000046.5(ARSB):c.*2543_*2545dup
|
rs397976147
|
|
NM_000046.5(ARSB):c.*2578A>T
|
rs548093605
|
|
NM_000046.5(ARSB):c.*2593T>G
|
rs1748811214
|
|
NM_000046.5(ARSB):c.*2637_*2639dup
|
rs886060781
|
|
NM_000046.5(ARSB):c.*3147G>A
|
rs1425606069
|
|
NM_000046.5(ARSB):c.*3174T>G
|
rs886060777
|
|
NM_000046.5(ARSB):c.*3181T>A
|
rs11750774
|
|
NM_000046.5(ARSB):c.*340A>C
|
rs1234619423
|
|
NM_000046.5(ARSB):c.*420A>G
|
rs1748876744
|
|
NM_000046.5(ARSB):c.*608G>A
|
rs886060796
|
|
NM_000046.5(ARSB):c.*619G>T
|
rs886060795
|
|
NM_000046.5(ARSB):c.*793T>A
|
rs886060794
|
|
NM_000046.5(ARSB):c.*922C>T
|
rs201284766
|
|
NM_000046.5(ARSB):c.1001G>T (p.Ser334Ile)
|
rs1554079311
|
|
NM_000046.5(ARSB):c.1024G>A (p.Val342Met)
|
|
|
NM_000046.5(ARSB):c.1028A>T (p.Lys343Met)
|
rs1554079305
|
|
NM_000046.5(ARSB):c.1032C>G (p.Asn344Lys)
|
rs1554079304
|
|
NM_000046.5(ARSB):c.1033C>T (p.Arg345Trp)
|
|
|
NM_000046.5(ARSB):c.1046A>T (p.His349Leu)
|
|
|
NM_000046.5(ARSB):c.1057T>A (p.Trp353Arg)
|
rs1554079297
|
|
NM_000046.5(ARSB):c.1090C>T (p.His364Tyr)
|
rs1457848169
|
|
NM_000046.5(ARSB):c.1115A>G (p.Asp372Gly)
|
rs1554079277
|
|
NM_000046.5(ARSB):c.1143-22011C>A
|
|
|
NM_000046.5(ARSB):c.1163G>C (p.Arg388Thr)
|
rs1554074134
|
|
NM_000046.5(ARSB):c.1178A>G (p.His393Arg)
|
rs118203944
|
|
NM_000046.5(ARSB):c.1181A>G (p.Asn394Ser)
|
|
|
NM_000046.5(ARSB):c.1190C>T (p.Pro397Leu)
|
|
|
NM_000046.5(ARSB):c.11G>T (p.Arg4Leu)
|
|
|
NM_000046.5(ARSB):c.1208C>T (p.Ser403Leu)
|
|
|
NM_000046.5(ARSB):c.1211C>T (p.Pro404Leu)
|
|
|
NM_000046.5(ARSB):c.1213+5G>A
|
rs1554074119
|
|
NM_000046.5(ARSB):c.1214-15A>T
|
rs1353542088
|
|
NM_000046.5(ARSB):c.1247A>T (p.Asp416Val)
|
|
|
NM_000046.5(ARSB):c.1250C>T (p.Ser417Phe)
|
|
|
NM_000046.5(ARSB):c.1288C>A (p.His430Asn)
|
rs1554069785
|
|
NM_000046.5(ARSB):c.1291G>C (p.Ala431Pro)
|
|
|
NM_000046.5(ARSB):c.1292C>A (p.Ala431Asp)
|
rs1748937951
|
|
NM_000046.5(ARSB):c.1301G>T (p.Arg434Ile)
|
rs1252936336
|
|
NM_000046.5(ARSB):c.1315A>G (p.Lys439Glu)
|
rs1554069778
|
|
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)
|
rs1057520739
|
|
NM_000046.5(ARSB):c.1334C>T (p.Pro445Leu)
|
rs1554069775
|
|
NM_000046.5(ARSB):c.1336+4G>T
|
|
|
NM_000046.5(ARSB):c.1336G>A (p.Gly446Ser)
|
rs1554069772
|
|
NM_000046.5(ARSB):c.1336G>C (p.Gly446Arg)
|
rs1554069772
|
|
NM_000046.5(ARSB):c.1340G>T (p.Cys447Phe)
|
rs1465993279
|
|
NM_000046.5(ARSB):c.1342G>A (p.Gly448Ser)
|
|
|
NM_000046.5(ARSB):c.1349G>T (p.Trp450Leu)
|
rs1554069685
|
|
NM_000046.5(ARSB):c.136C>T (p.His46Tyr)
|
|
|
NM_000046.5(ARSB):c.1442C>T (p.Pro481Leu)
|
rs906245021
|
|
NM_000046.5(ARSB):c.1457A>T (p.Asp486Val)
|
rs1554069670
|
|
NM_000046.5(ARSB):c.1466G>A (p.Arg489Lys)
|
rs1748894464
|
|
NM_000046.5(ARSB):c.1491G>C (p.Lys497Asn)
|
|
|
NM_000046.5(ARSB):c.1499C>T (p.Ser500Phe)
|
|
|
NM_000046.5(ARSB):c.1515C>T (p.Tyr505=)
|
rs1554069663
|
|
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs)
|
rs1310996698
|
|
NM_000046.5(ARSB):c.1554C>A (p.Asp518Glu)
|
rs1233108073
|
|
NM_000046.5(ARSB):c.1558C>T (p.Arg520Cys)
|
|
|
NM_000046.5(ARSB):c.1562G>A (p.Cys521Tyr)
|
rs1554069661
|
|
NM_000046.5(ARSB):c.1582_1596del (p.Val528_Trp532del)
|
rs1554069658
|
|
NM_000046.5(ARSB):c.1592C>G (p.Pro531Arg)
|
rs1554069659
|
|
NM_000046.5(ARSB):c.1600T>C (p.Ter534Gln)
|
rs1554069657
|
|
NM_000046.5(ARSB):c.1601A>G (p.Ter534Trp)
|
rs1554069655
|
|
NM_000046.5(ARSB):c.167G>A (p.Gly56Asp)
|
rs1554032211
|
|
NM_000046.5(ARSB):c.171G>C (p.Trp57Cys)
|
rs1554032205
|
|
NM_000046.5(ARSB):c.175G>A (p.Asp59Asn)
|
rs1236509896
|
|
NM_000046.5(ARSB):c.194C>T (p.Ser65Phe)
|
rs1233331806
|
|
NM_000046.5(ARSB):c.206C>T (p.Thr69Met)
|
rs1554032175
|
|
NM_000046.5(ARSB):c.215T>A (p.Leu72Gln)
|
rs397514441
|
|
NM_000046.5(ARSB):c.241C>T (p.Leu81Phe)
|
|
|
NM_000046.5(ARSB):c.260C>G (p.Thr87Arg)
|
rs1413561387
|
|
NM_000046.5(ARSB):c.264G>C (p.Gln88His)
|
rs750947605
|
|
NM_000046.5(ARSB):c.271T>C (p.Cys91Arg)
|
rs1554032113
|
|
NM_000046.5(ARSB):c.271T>G (p.Cys91Gly)
|
|
|
NM_000046.5(ARSB):c.272G>A (p.Cys91Tyr)
|
rs1554032112
|
|
NM_000046.5(ARSB):c.275C>A (p.Thr92Lys)
|
rs751010538
|
|
NM_000046.5(ARSB):c.277C>T (p.Pro93Ser)
|
rs1554032104
|
|
NM_000046.5(ARSB):c.278C>T (p.Pro93Leu)
|
rs1339096448
|
|
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg)
|
rs1554032095
|
|
NM_000046.5(ARSB):c.291G>C (p.Gln97His)
|
|
|
NM_000046.5(ARSB):c.302G>A (p.Gly101Asp)
|
rs2112580877
|
|
NM_000046.5(ARSB):c.323G>T (p.Gly108Val)
|
rs768802200
|
|
NM_000046.5(ARSB):c.332A>C (p.His111Pro)
|
rs1554088096
|
|
NM_000046.5(ARSB):c.347C>A (p.Pro116His)
|
rs775780931
|
|
NM_000046.5(ARSB):c.34G>C (p.Gly12Arg)
|
|
|
NM_000046.5(ARSB):c.356_358del (p.Pro119_Ser120delinsArg)
|
rs1554088087
|
|
NM_000046.5(ARSB):c.361T>C (p.Cys121Arg)
|
rs1554088083
|
|
NM_000046.5(ARSB):c.384_386del (p.Leu129del)
|
rs1180227844
|
|
NM_000046.5(ARSB):c.389C>T (p.Pro130Leu)
|
rs1435155976
|
|
NM_000046.5(ARSB):c.410G>A (p.Gly137Asp)
|
|
|
NM_000046.5(ARSB):c.410G>T (p.Gly137Val)
|
rs118203938
|
|
NM_000046.5(ARSB):c.413A>G (p.Tyr138Cys)
|
rs1554088061
|
|
NM_000046.5(ARSB):c.418A>C (p.Thr140Pro)
|
rs1554088058
|
|
NM_000046.5(ARSB):c.426G>C (p.Met142Ile)
|
rs1554088053
|
|
NM_000046.5(ARSB):c.436T>C (p.Trp146Arg)
|
rs1554088037
|
|
NM_000046.5(ARSB):c.437G>C (p.Trp146Ser)
|
rs1554088034
|
|
NM_000046.5(ARSB):c.437G>T (p.Trp146Leu)
|
rs1554088034
|
|
NM_000046.5(ARSB):c.440A>C (p.His147Pro)
|
rs1554088030
|
|
NM_000046.5(ARSB):c.448A>G (p.Met150Val)
|
|
|
NM_000046.5(ARSB):c.44C>T (p.Pro15Leu)
|
|
|
NM_000046.5(ARSB):c.464G>A (p.Cys155Tyr)
|
rs1554088019
|
|
NM_000046.5(ARSB):c.46C>G (p.Arg16Gly)
|
|
|
NM_000046.5(ARSB):c.489_491del (p.Thr164del)
|
rs1214445569
|
|
NM_000046.5(ARSB):c.499+5T>C
|
|
|
NM_000046.5(ARSB):c.499+6G>A
|
|
|
NM_000046.5(ARSB):c.499G>C (p.Gly167Arg)
|
|
|
NM_000046.5(ARSB):c.523T>C (p.Tyr175His)
|
|
|
NM_000046.5(ARSB):c.523T>G (p.Tyr175Asp)
|
rs748739839
|
|
NM_000046.5(ARSB):c.532_533inv (p.His178Cys)
|
|
|
NM_000046.5(ARSB):c.538C>T (p.Arg180Cys)
|
|
|
NM_000046.5(ARSB):c.556G>A (p.Ala186Thr)
|
|
|
NM_000046.5(ARSB):c.593A>G (p.Asp198Gly)
|
rs1406969234
|
|
NM_000046.5(ARSB):c.5G>A (p.Gly2Asp)
|
|
|
NM_000046.5(ARSB):c.625A>T (p.Met209Leu)
|
|
|
NM_000046.5(ARSB):c.635C>T (p.Thr212Ile)
|
rs1554087409
|
|
NM_000046.5(ARSB):c.666C>T (p.Leu222=)
|
rs1752122294
|
|
NM_000046.5(ARSB):c.680C>A (p.Pro227Gln)
|
|
|
NM_000046.5(ARSB):c.683C>T (p.Pro228Leu)
|
|
|
NM_000046.5(ARSB):c.689A>G (p.Lys230Arg)
|
|
|
NM_000046.5(ARSB):c.707T>C (p.Leu236Pro)
|
rs118203940
|
|
NM_000046.5(ARSB):c.713T>A (p.Leu238His)
|
|
|
NM_000046.5(ARSB):c.716A>G (p.Gln239Arg)
|
rs1554086431
|
|
NM_000046.5(ARSB):c.719C>T (p.Ser240Phe)
|
rs1554086430
|
|
NM_000046.5(ARSB):c.725A>C (p.His242Pro)
|
rs1554086428
|
|
NM_000046.5(ARSB):c.729_730delinsTT (p.Glu243_Pro244delinsAspSer)
|
rs2112484265
|
|
NM_000046.5(ARSB):c.755T>G (p.Leu252Trp)
|
|
|
NM_000046.5(ARSB):c.76CTG[6] (p.Leu32_Ala33insLeu)
|
|
|
NM_000046.5(ARSB):c.76CTG[7] (p.Leu32_Ala33insLeuLeu)
|
|
|
NM_000046.5(ARSB):c.790C>A (p.His264Asn)
|
rs558569339
|
|
NM_000046.5(ARSB):c.797A>C (p.Tyr266Ser)
|
rs1554086402
|
|
NM_000046.5(ARSB):c.7C>T (p.Pro3Ser)
|
rs887343928
|
|
NM_000046.5(ARSB):c.803G>T (p.Gly268Val)
|
rs1554086400
|
|
NM_000046.5(ARSB):c.806T>C (p.Met269Thr)
|
|
|
NM_000046.5(ARSB):c.838G>A (p.Val280Ile)
|
|
|
NM_000046.5(ARSB):c.847G>C (p.Ala283Pro)
|
|
|
NM_000046.5(ARSB):c.873C>A (p.Asn291Lys)
|
rs2112483415
|
|
NM_000046.5(ARSB):c.886A>C (p.Ile296Leu)
|
rs1440962115
|
|
NM_000046.5(ARSB):c.891T>G (p.Phe297Leu)
|
|
|
NM_000046.5(ARSB):c.896C>T (p.Thr299Ile)
|
rs2112483313
|
|
NM_000046.5(ARSB):c.900T>G (p.Asp300Glu)
|
rs1280123243
|
|
NM_000046.5(ARSB):c.904G>A (p.Gly302Arg)
|
rs779378413
|
|
NM_000046.5(ARSB):c.904_905inv (p.Gly302Pro)
|
|
|
NM_000046.5(ARSB):c.917T>C (p.Leu306Ser)
|
|
|
NM_000046.5(ARSB):c.91TTG[1] (p.Leu32del)
|
rs535493472
|
|
NM_000046.5(ARSB):c.922G>A (p.Gly308Arg)
|
rs1554079335
|
|
NM_000046.5(ARSB):c.923G>A (p.Gly308Glu)
|
rs1554079333
|
|
NM_000046.5(ARSB):c.925G>A (p.Gly309Ser)
|
|
|
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp)
|
rs1402584432
|
|
NM_000046.5(ARSB):c.92T>C (p.Leu31Ser)
|
|
|
NM_000046.5(ARSB):c.937C>T (p.Pro313Ser)
|
rs749989641
|
|
NM_000046.5(ARSB):c.944G>C (p.Arg315Pro)
|
rs727503809
|
|
NM_000046.5(ARSB):c.951A>G (p.Arg317=)
|
rs1318270777
|
|
NM_000046.5(ARSB):c.960C>G (p.Ser320Arg)
|
rs762614315
|
|
NM_000046.5(ARSB):c.976G>A (p.Val326Ile)
|
|
|
NM_000046.5(ARSB):c.980G>A (p.Arg327Gln)
|
|
|
NM_000108.5(DLD):c.*1027T>G
|
rs372098056
|
|
NM_000108.5(DLD):c.*1088A>G
|
rs886061912
|
|
NM_000108.5(DLD):c.*1231A>G
|
rs2032385167
|
|
NM_000108.5(DLD):c.*167T>C
|
rs886061909
|
|
NM_000108.5(DLD):c.*374G>T
|
rs576270082
|
|
NM_000108.5(DLD):c.*470G>A
|
rs111619940
|
|
NM_000108.5(DLD):c.*498T>G
|
rs886061911
|
|
NM_000108.5(DLD):c.*898C>T
|
rs2032373871
|
|
NM_000108.5(DLD):c.-10C>T
|
rs1269120569
|
|
NM_000108.5(DLD):c.1006A>G (p.Arg336Gly)
|
rs776547214
|
|
NM_000108.5(DLD):c.1052A>G (p.Tyr351Cys)
|
|
|
NM_000108.5(DLD):c.1065T>G (p.Asp355Glu)
|
|
|
NM_000108.5(DLD):c.1148A>G (p.His383Arg)
|
|
|
NM_000108.5(DLD):c.118+12A>G
|
|
|
NM_000108.5(DLD):c.1212A>C (p.Lys404Asn)
|
|
|
NM_000108.5(DLD):c.1218A>C (p.Glu406Asp)
|
|
|
NM_000108.5(DLD):c.1236+5G>A
|
|
|
NM_000108.5(DLD):c.1313T>C (p.Met438Thr)
|
rs2032312825
|
|
NM_000108.5(DLD):c.1337C>T (p.Ser446Leu)
|
|
|
NM_000108.5(DLD):c.1343A>G (p.Asp448Gly)
|
|
|
NM_000108.5(DLD):c.1357G>A (p.Ala453Thr)
|
|
|
NM_000108.5(DLD):c.1373C>T (p.Pro458Leu)
|
|
|
NM_000108.5(DLD):c.13A>G (p.Ser5Gly)
|
|
|
NM_000108.5(DLD):c.140T>G (p.Ile47Arg)
|
|
|
NM_000108.5(DLD):c.1463del (p.Pro488fs)
|
rs1554400720
|
|
NM_000108.5(DLD):c.1464G>A (p.Pro488=)
|
|
|
NM_000108.5(DLD):c.1465-7C>G
|
rs886061908
|
|
NM_000108.5(DLD):c.1471T>C (p.Ser491Pro)
|
rs2032348536
|
|
NM_000108.5(DLD):c.1502C>T (p.Ala501Val)
|
|
|
NM_000108.5(DLD):c.1517C>T (p.Ser506Leu)
|
|
|
NM_000108.5(DLD):c.1528T>C (p.Ter510Arg)
|
rs1554400769
|
|
NM_000108.5(DLD):c.161A>T (p.Tyr54Phe)
|
|
|
NM_000108.5(DLD):c.163G>A (p.Val55Ile)
|
rs2116207217
|
|
NM_000108.5(DLD):c.191G>C (p.Gly64Ala)
|
rs2031883055
|
|
NM_000108.5(DLD):c.194T>A (p.Phe65Tyr)
|
|
|
NM_000108.5(DLD):c.217A>C (p.Asn73His)
|
rs796051949
|
|
NM_000108.5(DLD):c.267+15del
|
rs886061906
|
|
NM_000108.5(DLD):c.268-3T>A
|
rs2031928500
|
|
NM_000108.5(DLD):c.29C>T (p.Ser10Phe)
|
|
|
NM_000108.5(DLD):c.305A>T (p.His102Leu)
|
rs893865374
|
|
NM_000108.5(DLD):c.30C>A (p.Ser10=)
|
rs779166996
|
|
NM_000108.5(DLD):c.340T>G (p.Ser114Ala)
|
|
|
NM_000108.5(DLD):c.361G>A (p.Asp121Asn)
|
rs780305161
|
|
NM_000108.5(DLD):c.367A>G (p.Met123Val)
|
rs111352707
|
|
NM_000108.5(DLD):c.39+3G>C
|
rs2031564629
|
|
NM_000108.5(DLD):c.40-3T>A
|
|
|
NM_000108.5(DLD):c.40-3T>C
|
rs2116162419
|
|
NM_000108.5(DLD):c.439-6G>C
|
rs369208046
|
|
NM_000108.5(DLD):c.499G>A (p.Ala167Thr)
|
rs2116221690
|
|
NM_000108.5(DLD):c.511A>C (p.Thr171Pro)
|
|
|
NM_000108.5(DLD):c.520A>G (p.Ile174Val)
|
rs2031981415
|
|
NM_000108.5(DLD):c.53A>G (p.Asn18Ser)
|
|
|
NM_000108.5(DLD):c.542T>C (p.Ile181Thr)
|
rs1291809324
|
|
NM_000108.5(DLD):c.581C>T (p.Thr194Met)
|
|
|
NM_000108.5(DLD):c.58A>G (p.Ile20Val)
|
|
|
NM_000108.5(DLD):c.596C>A (p.Thr199Lys)
|
rs1336962180
|
|
NM_000108.5(DLD):c.597A>G (p.Thr199=)
|
rs768248572
|
|
NM_000108.5(DLD):c.656T>C (p.Ile219Thr)
|
rs2032006962
|
|
NM_000108.5(DLD):c.675_676inv (p.Val226Ile)
|
|
|
NM_000108.5(DLD):c.6G>C (p.Gln2His)
|
|
|
NM_000108.5(DLD):c.765G>A (p.Met255Ile)
|
|
|
NM_000108.5(DLD):c.787C>T (p.Arg263Cys)
|
|
|
NM_000108.5(DLD):c.79C>T (p.Leu27Phe)
|
rs2116162795
|
|
NM_000108.5(DLD):c.803A>G (p.Gln268Arg)
|
|
|
NM_000108.5(DLD):c.831G>T (p.Lys277Asn)
|
|
|
NM_000108.5(DLD):c.857A>G (p.Asp286Gly)
|
rs192349677
|
|
NM_000108.5(DLD):c.866T>C (p.Ile289Thr)
|
rs2116264648
|
|
NM_000108.5(DLD):c.884C>T (p.Ala295Val)
|
|
|
NM_000108.5(DLD):c.901G>C (p.Ala301Pro)
|
|
|
NM_000108.5(DLD):c.919G>A (p.Asp307Asn)
|
rs2032282601
|
|
NM_000108.5(DLD):c.966G>C (p.Leu322Phe)
|
|
|
NM_000108.5(DLD):c.991C>G (p.Leu331Val)
|
|
|
NM_000147.5(FUCA1):c.*286C>A
|
rs886046324
|
|
NM_000147.5(FUCA1):c.*438_*442del
|
rs886046323
|
|
NM_000147.5(FUCA1):c.*544T>A
|
rs886046321
|
|
NM_000147.5(FUCA1):c.1016T>C (p.Ile339Thr)
|
|
|
NM_000147.5(FUCA1):c.1048A>G (p.Ile350Val)
|
|
|
NM_000147.5(FUCA1):c.1076G>A (p.Gly359Glu)
|
rs1393793214
|
|
NM_000147.5(FUCA1):c.1082G>T (p.Trp361Leu)
|
|
|
NM_000147.5(FUCA1):c.1102G>A (p.Ala368Thr)
|
|
|
NM_000147.5(FUCA1):c.1123T>C (p.Trp375Arg)
|
|
|
NM_000147.5(FUCA1):c.1136G>C (p.Trp379Ser)
|
|
|
NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln)
|
rs80358195
|
|
NM_000147.5(FUCA1):c.1174G>A (p.Gly392Arg)
|
rs1639135764
|
|
NM_000147.5(FUCA1):c.1180G>A (p.Ala394Thr)
|
|
|
NM_000147.5(FUCA1):c.1183G>A (p.Val395Ile)
|
|
|
NM_000147.5(FUCA1):c.1192A>G (p.Ile398Val)
|
|
|
NM_000147.5(FUCA1):c.1214A>T (p.Asn405Ile)
|
|
|
NM_000147.5(FUCA1):c.1226A>T (p.Asn409Ile)
|
|
|
NM_000147.5(FUCA1):c.1237C>T (p.Pro413Ser)
|
|
|
NM_000147.5(FUCA1):c.1249T>G (p.Ser417Ala)
|
|
|
NM_000147.5(FUCA1):c.1286A>G (p.Asp429Gly)
|
|
|
NM_000147.5(FUCA1):c.1295G>A (p.Trp432Ter)
|
rs1639127458
|
|
NM_000147.5(FUCA1):c.1309G>C (p.Asp437His)
|
rs1639125891
|
|
NM_000147.5(FUCA1):c.1384C>A (p.Leu462Met)
|
rs770042348
|
|
NM_000147.5(FUCA1):c.1392A>T (p.Gly464=)
|
rs2148436869
|
|
NM_000147.5(FUCA1):c.167C>G (p.Ala56Gly)
|
rs886046325
|
|
NM_000147.5(FUCA1):c.16A>G (p.Met6Val)
|
|
|
NM_000147.5(FUCA1):c.185T>G (p.Ile62Ser)
|
rs2148450635
|
|
NM_000147.5(FUCA1):c.187C>T (p.His63Tyr)
|
rs2148450632
|
|
NM_000147.5(FUCA1):c.209C>T (p.Pro70Leu)
|
rs770492031
|
|
NM_000147.5(FUCA1):c.212C>T (p.Ala71Val)
|
rs1224396509
|
|
NM_000147.5(FUCA1):c.266A>T (p.Tyr89Phe)
|
|
|
NM_000147.5(FUCA1):c.31G>T (p.Ala11Ser)
|
rs1455700210
|
|
NM_000147.5(FUCA1):c.343T>C (p.Phe115Leu)
|
rs1639658693
|
|
NM_000147.5(FUCA1):c.360G>T (p.Trp120Cys)
|
rs758745364
|
|
NM_000147.5(FUCA1):c.377C>T (p.Ala126Val)
|
rs780117609
|
|
NM_000147.5(FUCA1):c.385G>T (p.Ala129Ser)
|
|
|
NM_000147.5(FUCA1):c.389+15G>C
|
rs1395597191
|
|
NM_000147.5(FUCA1):c.389+4A>C
|
|
|
NM_000147.5(FUCA1):c.389+6T>C
|
rs577790391
|
|
NM_000147.5(FUCA1):c.400T>G (p.Leu134Val)
|
|
|
NM_000147.5(FUCA1):c.404C>A (p.Thr135Lys)
|
rs779017131
|
|
NM_000147.5(FUCA1):c.404C>G (p.Thr135Arg)
|
rs779017131
|
|
NM_000147.5(FUCA1):c.404C>T (p.Thr135Met)
|
|
|
NM_000147.5(FUCA1):c.420A>C (p.Glu140Asp)
|
rs1639606764
|
|
NM_000147.5(FUCA1):c.422G>C (p.Gly141Ala)
|
|
|
NM_000147.5(FUCA1):c.422G>T (p.Gly141Val)
|
rs753232669
|
|
NM_000147.5(FUCA1):c.437C>G (p.Pro146Arg)
|
|
|
NM_000147.5(FUCA1):c.46_48dup (p.Leu20_Phe21insLeu)
|
|
|
NM_000147.5(FUCA1):c.489T>C (p.Asp163=)
|
rs1639604269
|
|
NM_000147.5(FUCA1):c.48GCT[5] (p.Leu20dup)
|
rs756742678
|
|
NM_000147.5(FUCA1):c.4C>A (p.Arg2=)
|
rs2070955
|
|
NM_000147.5(FUCA1):c.4C>G (p.Arg2Gly)
|
rs2070955
|
|
NM_000147.5(FUCA1):c.524+4_524+5del
|
rs1158652644
|
|
NM_000147.5(FUCA1):c.55_60dup (p.Leu20_Phe21insLeuLeu)
|
|
|
NM_000147.5(FUCA1):c.574C>G (p.Leu192Val)
|
rs2148447710
|
|
NM_000147.5(FUCA1):c.580C>A (p.Leu194Ile)
|
rs1639545879
|
|
NM_000147.5(FUCA1):c.5G>A (p.Arg2Gln)
|
|
|
NM_000147.5(FUCA1):c.606A>C (p.Lys202Asn)
|
|
|
NM_000147.5(FUCA1):c.614A>G (p.His205Arg)
|
rs2148447684
|
|
NM_000147.5(FUCA1):c.655G>T (p.Val219Phe)
|
|
|
NM_000147.5(FUCA1):c.662+3A>G
|
|
|
NM_000147.5(FUCA1):c.663-3C>T
|
|
|
NM_000147.5(FUCA1):c.70G>A (p.Ala24Thr)
|
|
|
NM_000147.5(FUCA1):c.755A>G (p.Asp252Gly)
|
rs779515820
|
|
NM_000147.5(FUCA1):c.775G>T (p.Val259Leu)
|
|
|
NM_000147.5(FUCA1):c.781G>A (p.Val261Ile)
|
|
|
NM_000147.5(FUCA1):c.7G>A (p.Ala3Thr)
|
rs61996282
|
|
NM_000147.5(FUCA1):c.82del (p.Val28fs)
|
rs1639666186
|
|
NM_000147.5(FUCA1):c.849C>A (p.Phe283Leu)
|
rs754452752
|
|
NM_000147.5(FUCA1):c.863T>G (p.Leu288Trp)
|
|
|
NM_000147.5(FUCA1):c.86G>T (p.Arg29Leu)
|
rs1639666097
|
|
NM_000147.5(FUCA1):c.871C>G (p.His291Asp)
|
rs2148442832
|
|
NM_000147.5(FUCA1):c.89G>C (p.Arg30Pro)
|
|
|
NM_000147.5(FUCA1):c.8C>T (p.Ala3Val)
|
|
|
NM_000147.5(FUCA1):c.905T>C (p.Phe302Ser)
|
|
|
NM_000147.5(FUCA1):c.908C>T (p.Ser303Phe)
|
|
|
NM_000147.5(FUCA1):c.910T>C (p.Trp304Arg)
|
rs2148442806
|
|
NM_000147.5(FUCA1):c.917A>G (p.Tyr306Cys)
|
|
|
NM_000147.5(FUCA1):c.917A>T (p.Tyr306Phe)
|
rs749790121
|
|
NM_000147.5(FUCA1):c.91G>A (p.Ala31Thr)
|
rs774539460
|
|
NM_000147.5(FUCA1):c.920G>A (p.Arg307His)
|
|
|
NM_000147.5(FUCA1):c.943G>A (p.Val315Ile)
|
rs746590345
|
|
NM_000147.5(FUCA1):c.949G>A (p.Glu317Lys)
|
|
|
NM_000147.5(FUCA1):c.969+5G>A
|
|
|
NM_000147.5(FUCA1):c.969G>A (p.Ser323=)
|
|
|
NM_000147.5(FUCA1):c.971A>G (p.Glu324Gly)
|
|
|
NM_000147.5(FUCA1):c.998G>A (p.Gly333Asp)
|
|
|
NM_000151.4(G6PC1):c.*1458C>T
|
rs2056105397
|
|
NM_000151.4(G6PC1):c.*1466T>C
|
rs2056105442
|
|
NM_000151.4(G6PC1):c.*1514G>A
|
rs111309126
|
|
NM_000151.4(G6PC1):c.*1527C>T
|
rs966575521
|
|
NM_000151.4(G6PC1):c.*1550G>T
|
rs1324359967
|
|
NM_000151.4(G6PC1):c.*1552A>T
|
rs138968865
|
|
NM_000151.4(G6PC1):c.*1640G>T
|
rs556943624
|
|
NM_000151.4(G6PC1):c.*1901A>G
|
rs2056108046
|
|
NM_000151.4(G6PC1):c.*2081T>A
|
rs2056108904
|
|
NM_000151.4(G6PC1):c.*2501C>G
|
rs886052964
|
|
NM_000151.4(G6PC1):c.*2519G>T
|
rs886052965
|
|
NM_000151.4(G6PC1):c.*251C>T
|
rs753206089
|
|
NM_000151.4(G6PC1):c.*2611C>T
|
rs186556135
|
|
NM_000151.4(G6PC1):c.*2687del
|
rs113390675
|
|
NM_000151.4(G6PC1):c.*2857C>T
|
rs2056113291
|
|
NM_000151.4(G6PC1):c.*286A>G
|
rs886052959
|
|
NM_000151.4(G6PC1):c.*2980A>G
|
rs2056113916
|
|
NM_000151.4(G6PC1):c.*492A>C
|
rs532485841
|
|
NM_000151.4(G6PC1):c.*703G>A
|
rs375295552
|
|
NM_000151.4(G6PC1):c.*714A>G
|
rs886052961
|
|
NM_000151.4(G6PC1):c.*887T>C
|
rs2056101326
|
|
NM_000151.4(G6PC1):c.1012G>A (p.Val338Ile)
|
rs367727229
|
|
NM_000151.4(G6PC1):c.1018_1027delinsA (p.Val340_Tyr343delinsAsn)
|
rs1555560204
|
|
NM_000151.4(G6PC1):c.1036G>A (p.Ala346Thr)
|
|
|
NM_000151.4(G6PC1):c.1037C>T (p.Ala346Val)
|
|
|
NM_000151.4(G6PC1):c.103G>A (p.Val35Met)
|
|
|
NM_000151.4(G6PC1):c.1042del (p.Val348fs)
|
|
|
NM_000151.4(G6PC1):c.1055C>T (p.Pro352Leu)
|
|
|
NM_000151.4(G6PC1):c.1064A>G (p.Lys355Arg)
|
|
|
NM_000151.4(G6PC1):c.1065G>T (p.Lys355Asn)
|
rs746978011
|
|
NM_000151.4(G6PC1):c.1066T>C (p.Ser356Pro)
|
|
|
NM_000151.4(G6PC1):c.1067C>A (p.Ser356Ter)
|
rs1555560217
|
|
NM_000151.4(G6PC1):c.1070_1072del (p.Leu357del)
|
|
|
NM_000151.4(G6PC1):c.121A>G (p.Asn41Asp)
|
|
|
NM_000151.4(G6PC1):c.127T>C (p.Phe43Leu)
|
|
|
NM_000151.4(G6PC1):c.133G>A (p.Val45Ile)
|
rs145749644
|
|
NM_000151.4(G6PC1):c.133G>C (p.Val45Leu)
|
|
|
NM_000151.4(G6PC1):c.141C>G (p.Phe47Leu)
|
|
|
NM_000151.4(G6PC1):c.142C>T (p.Pro48Ser)
|
|
|
NM_000151.4(G6PC1):c.155A>T (p.His52Leu)
|
|
|
NM_000151.4(G6PC1):c.167C>A (p.Ala56Asp)
|
|
|
NM_000151.4(G6PC1):c.172G>A (p.Gly58Ser)
|
|
|
NM_000151.4(G6PC1):c.189G>C (p.Trp63Cys)
|
|
|
NM_000151.4(G6PC1):c.18T>A (p.Asn6Lys)
|
rs144652516
|
|
NM_000151.4(G6PC1):c.193G>C (p.Ala65Pro)
|
rs369472089
|
|
NM_000151.4(G6PC1):c.209G>C (p.Trp70Ser)
|
rs1567702823
|
|
NM_000151.4(G6PC1):c.230+11T>C
|
rs756151664
|
|
NM_000151.4(G6PC1):c.231-4A>G
|
rs1200297208
|
|
NM_000151.4(G6PC1):c.250C>T (p.Pro84Ser)
|
|
|
NM_000151.4(G6PC1):c.256T>C (p.Trp86Arg)
|
rs2056043139
|
|
NM_000151.4(G6PC1):c.269A>G (p.Asp90Gly)
|
|
|
NM_000151.4(G6PC1):c.27T>A (p.His9Gln)
|
|
|
NM_000151.4(G6PC1):c.295G>A (p.Val99Met)
|
|
|
NM_000151.4(G6PC1):c.338C>T (p.Pro113Leu)
|
|
|
NM_000151.4(G6PC1):c.341G>A (p.Gly114Glu)
|
rs544563908
|
|
NM_000151.4(G6PC1):c.341G>C (p.Gly114Ala)
|
rs544563908
|
|
NM_000151.4(G6PC1):c.361A>G (p.Met121Val)
|
rs1555559733
|
|
NM_000151.4(G6PC1):c.368C>A (p.Thr123Lys)
|
rs765306500
|
|
NM_000151.4(G6PC1):c.368C>T (p.Thr123Ile)
|
rs765306500
|
|
NM_000151.4(G6PC1):c.383A>G (p.Tyr128Cys)
|
rs2056069622
|
|
NM_000151.4(G6PC1):c.395C>T (p.Thr132Ile)
|
|
|
NM_000151.4(G6PC1):c.408C>T (p.Ser136=)
|
|
|
NM_000151.4(G6PC1):c.440G>A (p.Arg147Lys)
|
|
|
NM_000151.4(G6PC1):c.445C>T (p.Arg149Trp)
|
|
|
NM_000151.4(G6PC1):c.446G>A (p.Arg149Gln)
|
|
|
NM_000151.4(G6PC1):c.473G>A (p.Gly158Glu)
|
rs2151931742
|
|
NM_000151.4(G6PC1):c.47C>G (p.Thr16Arg)
|
rs1555558914
|
|
NM_000151.4(G6PC1):c.497T>C (p.Val166Ala)
|
rs104894571
|
|
NM_000151.4(G6PC1):c.532C>G (p.Pro178Ala)
|
|
|
NM_000151.4(G6PC1):c.562+4T>A
|
|
|
NM_000151.4(G6PC1):c.563-3C>T
|
rs1597991608
|
|
NM_000151.4(G6PC1):c.563G>A (p.Gly188Asp)
|
|
|
NM_000151.4(G6PC1):c.577G>C (p.Glu193Gln)
|
rs886052956
|
|
NM_000151.4(G6PC1):c.580A>G (p.Thr194Ala)
|
rs1597991619
|
|
NM_000151.4(G6PC1):c.59A>G (p.Gln20Arg)
|
rs2056021410
|
|
NM_000151.4(G6PC1):c.634A>G (p.Ile212Val)
|
rs756944737
|
|
NM_000151.4(G6PC1):c.634A>T (p.Ile212Phe)
|
rs756944737
|
|
NM_000151.4(G6PC1):c.638C>T (p.Thr213Ile)
|
rs201649392
|
|
NM_000151.4(G6PC1):c.643T>C (p.Phe215Leu)
|
rs780212338
|
|
NM_000151.4(G6PC1):c.646C>T (p.Leu216=)
|
rs749665480
|
|
NM_000151.4(G6PC1):c.674T>C (p.Leu225Pro)
|
rs1555560128
|
|
NM_000151.4(G6PC1):c.685G>A (p.Gly229Arg)
|
|
|
NM_000151.4(G6PC1):c.6_7delinsAA (p.Glu3Lys)
|
rs2151929052
|
|
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)
|
rs2056092151
|
|
NM_000151.4(G6PC1):c.735C>T (p.Cys245=)
|
|
|
NM_000151.4(G6PC1):c.736G>A (p.Glu246Lys)
|
|
|
NM_000151.4(G6PC1):c.780C>A (p.Ser260Arg)
|
rs748610705
|
|
NM_000151.4(G6PC1):c.781CTC[1] (p.Leu262del)
|
rs1305819623
|
|
NM_000151.4(G6PC1):c.792C>A (p.Asn264Lys)
|
rs1555560149
|
|
NM_000151.4(G6PC1):c.796G>A (p.Gly266Ser)
|
rs2151932313
|
|
NM_000151.4(G6PC1):c.800C>G (p.Thr267Arg)
|
|
|
NM_000151.4(G6PC1):c.836T>C (p.Met279Thr)
|
|
|
NM_000151.4(G6PC1):c.856G>A (p.Gly286Arg)
|
|
|
NM_000151.4(G6PC1):c.85T>A (p.Trp29Arg)
|
|
|
NM_000151.4(G6PC1):c.896T>C (p.Ile299Thr)
|
|
|
NM_000151.4(G6PC1):c.91A>T (p.Ile31Phe)
|
|
|
NM_000151.4(G6PC1):c.928G>A (p.Asp310Asn)
|
|
|
NM_000151.4(G6PC1):c.92T>A (p.Ile31Asn)
|
rs538960604
|
|
NM_000151.4(G6PC1):c.944C>T (p.Pro315Leu)
|
|
|
NM_000151.4(G6PC1):c.964T>G (p.Phe322Val)
|
rs1567706564
|
|
NM_000151.4(G6PC1):c.965T>A (p.Phe322Tyr)
|
rs863224022
|
|
NM_000151.4(G6PC1):c.970G>A (p.Val324Ile)
|
|
|
NM_000151.4(G6PC1):c.977C>G (p.Ser326Cys)
|
|
|
NM_000151.4(G6PC1):c.98T>A (p.Val33Glu)
|
|
|
NM_000151.4(G6PC1):c.990T>G (p.Ser330Arg)
|
rs748053431
|
|
NM_000151.4(G6PC1):c.993G>C (p.Ala331=)
|
rs369238258
|
|
NM_000152.5(GAA):c.*128T>C
|
rs886053549
|
|
NM_000152.5(GAA):c.*219G>A
|
rs1216535924
|
|
NM_000152.5(GAA):c.*309C>T
|
rs886053550
|
|
NM_000152.5(GAA):c.*313C>G
|
rs926145648
|
|
NM_000152.5(GAA):c.*82C>T
|
rs745999686
|
|
NM_000152.5(GAA):c.-32-13T>C
|
rs386834236
|
|
NM_000152.5(GAA):c.-32-3del
|
|
|
NM_000152.5(GAA):c.-325C>T
|
rs1402918119
|
|
NM_000152.5(GAA):c.1000G>A (p.Gly334Ser)
|
rs886042960
|
|
NM_000152.5(GAA):c.1007T>C (p.Ile336Thr)
|
|
|
NM_000152.5(GAA):c.1033C>T (p.Pro345Ser)
|
|
|
NM_000152.5(GAA):c.1036G>C (p.Glu346Gln)
|
|
|
NM_000152.5(GAA):c.1039C>T (p.Pro347Ser)
|
rs2039144354
|
|
NM_000152.5(GAA):c.1049T>C (p.Val350Ala)
|
rs2039144934
|
|
NM_000152.5(GAA):c.1054C>A (p.Gln352Lys)
|
|
|
NM_000152.5(GAA):c.1069G>A (p.Val357Ile)
|
rs754449703
|
|
NM_000152.5(GAA):c.1069G>T (p.Val357Phe)
|
rs754449703
|
|
NM_000152.5(GAA):c.1075+5G>A
|
|
|
NM_000152.5(GAA):c.1076-11T>C
|
|
|
NM_000152.5(GAA):c.1076-15G>C
|
rs370414054
|
|
NM_000152.5(GAA):c.1089G>A (p.Met363Ile)
|
|
|
NM_000152.5(GAA):c.1090C>T (p.Pro364Ser)
|
|
|
NM_000152.5(GAA):c.1091C>T (p.Pro364Leu)
|
|
|
NM_000152.5(GAA):c.1097A>C (p.Tyr366Ser)
|
rs2143854757
|
|
NM_000152.5(GAA):c.1099T>C (p.Trp367Arg)
|
rs1555600061
|
|
NM_000152.5(GAA):c.1103G>T (p.Gly368Val)
|
rs368244038
|
|
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)
|
rs2039149745
|
|
NM_000152.5(GAA):c.1118T>G (p.Leu373Arg)
|
rs2039150286
|
|
NM_000152.5(GAA):c.1129G>A (p.Gly377Ser)
|
rs752002666
|
|
NM_000152.5(GAA):c.1129G>T (p.Gly377Cys)
|
rs752002666
|
|
NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn)
|
|
|
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr)
|
rs1598577393
|
|
NM_000152.5(GAA):c.1135TCC[1] (p.Ser380del)
|
|
|
NM_000152.5(GAA):c.1136C>A (p.Ser379Tyr)
|
rs377233099
|
|
NM_000152.5(GAA):c.1136C>T (p.Ser379Phe)
|
rs377233099
|
|
NM_000152.5(GAA):c.1144G>A (p.Ala382Thr)
|
rs1193750279
|
|
NM_000152.5(GAA):c.1158G>T (p.Gln386His)
|
rs1400466814
|
|
NM_000152.5(GAA):c.115C>A (p.Pro39Thr)
|
rs759236536
|
|
NM_000152.5(GAA):c.1160T>C (p.Val387Ala)
|
|
|
NM_000152.5(GAA):c.1160TGG[1] (p.Val388del)
|
|
|
NM_000152.5(GAA):c.1172T>A (p.Met391Lys)
|
|
|
NM_000152.5(GAA):c.1173G>A (p.Met391Ile)
|
rs2143855905
|
|
NM_000152.5(GAA):c.1178G>C (p.Arg393Thr)
|
|
|
NM_000152.5(GAA):c.1180G>A (p.Ala394Thr)
|
rs190889375
|
|
NM_000152.5(GAA):c.1184A>G (p.His395Arg)
|
rs775121651
|
|
NM_000152.5(GAA):c.118C>G (p.Arg40Gly)
|
rs767409395
|
|
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)
|
rs776008078
|
|
NM_000152.5(GAA):c.1192C>A (p.Leu398Met)
|
rs369707231
|
|
NM_000152.5(GAA):c.1194+3G>T
|
rs368539333
|
|
NM_000152.5(GAA):c.1194+6T>C
|
rs1470004759
|
|
NM_000152.5(GAA):c.1216G>A (p.Asp406Asn)
|
rs1555600179
|
|
NM_000152.5(GAA):c.1219T>C (p.Tyr407His)
|
rs727503939
|
|
NM_000152.5(GAA):c.1228T>C (p.Ser410Pro)
|
rs2039157992
|
|
NM_000152.5(GAA):c.1232G>C (p.Arg411Pro)
|
rs372799904
|
|
NM_000152.5(GAA):c.1234_1236dup (p.Arg412dup)
|
rs2143857460
|
|
NM_000152.5(GAA):c.1240T>C (p.Phe414Leu)
|
rs886042630
|
|
NM_000152.5(GAA):c.1242_1244del (p.Phe414_Thr415delinsLeu)
|
rs1555600194
|
|
NM_000152.5(GAA):c.1246T>G (p.Phe416Val)
|
|
|
NM_000152.5(GAA):c.1253A>G (p.Lys418Arg)
|
rs2039159106
|
|
NM_000152.5(GAA):c.1254G>A (p.Lys418=)
|
rs769131433
|
|
NM_000152.5(GAA):c.1256A>G (p.Asp419Gly)
|
rs1397577545
|
|
NM_000152.5(GAA):c.1267G>A (p.Asp423Asn)
|
|
|
NM_000152.5(GAA):c.1273C>A (p.Pro425Thr)
|
rs1283810246
|
|
NM_000152.5(GAA):c.1273C>T (p.Pro425Ser)
|
rs1283810246
|
|
NM_000152.5(GAA):c.1276G>A (p.Ala426Thr)
|
rs2143857881
|
|
NM_000152.5(GAA):c.1280T>C (p.Met427Thr)
|
rs1555600212
|
|
NM_000152.5(GAA):c.1303G>A (p.Gly435Ser)
|
|
|
NM_000152.5(GAA):c.1315A>G (p.Met439Val)
|
|
|
NM_000152.5(GAA):c.1317G>A (p.Met439Ile)
|
rs991245388
|
|
NM_000152.5(GAA):c.1317GAT[1] (p.Met440del)
|
rs1555600235
|
|
NM_000152.5(GAA):c.1320G>A (p.Met440Ile)
|
|
|
NM_000152.5(GAA):c.1320G>C (p.Met440Ile)
|
rs550837627
|
|
NM_000152.5(GAA):c.1326+6T>C
|
rs1199225255
|
|
NM_000152.5(GAA):c.1326G>A (p.Val442=)
|
|
|
NM_000152.5(GAA):c.1327-7T>G
|
rs774490566
|
|
NM_000152.5(GAA):c.1336A>G (p.Ile446Val)
|
rs775612060
|
|
NM_000152.5(GAA):c.1336_1356dup (p.Ile446_Ala452dup)
|
rs1555600488
|
|
NM_000152.5(GAA):c.133T>G (p.Ser45Ala)
|
rs1322709296
|
|
NM_000152.5(GAA):c.1343G>T (p.Ser448Ile)
|
rs145712232
|
|
NM_000152.5(GAA):c.1345T>G (p.Ser449Ala)
|
|
|
NM_000152.5(GAA):c.134C>T (p.Ser45Phe)
|
rs1179395024
|
|
NM_000152.5(GAA):c.1358G>A (p.Gly453Glu)
|
rs2039191662
|
|
NM_000152.5(GAA):c.1370C>T (p.Pro457Leu)
|
rs2039191855
|
|
NM_000152.5(GAA):c.1372T>C (p.Tyr458His)
|
rs1567832012
|
|
NM_000152.5(GAA):c.1375G>A (p.Asp459Asn)
|
rs535644999
|
|
NM_000152.5(GAA):c.1375G>C (p.Asp459His)
|
rs535644999
|
|
NM_000152.5(GAA):c.1375G>T (p.Asp459Tyr)
|
rs535644999
|
|
NM_000152.5(GAA):c.1380G>C (p.Glu460Asp)
|
|
|
NM_000152.5(GAA):c.1382G>A (p.Gly461Asp)
|
rs1277491722
|
|
NM_000152.5(GAA):c.1385T>C (p.Leu462Pro)
|
rs2143866454
|
|
NM_000152.5(GAA):c.1388_1405del (p.Arg463_Thr469delinsPro)
|
rs2039192921
|
|
NM_000152.5(GAA):c.1390A>T (p.Arg464Trp)
|
rs2039193001
|
|
NM_000152.5(GAA):c.1392_1393delinsTT (p.Arg464_Gly465delinsSerTrp)
|
|
|
NM_000152.5(GAA):c.1393G>C (p.Gly465Arg)
|
|
|
NM_000152.5(GAA):c.1393G>T (p.Gly465Trp)
|
|
|
NM_000152.5(GAA):c.1396G>C (p.Val466Leu)
|
rs375006053
|
|
NM_000152.5(GAA):c.1398_1400dup (p.Phe467dup)
|
rs2039193694
|
|
NM_000152.5(GAA):c.1402A>C (p.Ile468Leu)
|
rs886043148
|
|
NM_000152.5(GAA):c.1409A>G (p.Asn470Ser)
|
|
|
NM_000152.5(GAA):c.1410C>A (p.Asn470Lys)
|
rs886043068
|
|
NM_000152.5(GAA):c.1416C>G (p.Thr472=)
|
rs368492669
|
|
NM_000152.5(GAA):c.1424C>T (p.Pro475Leu)
|
|
|
NM_000152.5(GAA):c.1426C>A (p.Leu476Met)
|
rs756613882
|
|
NM_000152.5(GAA):c.1427T>C (p.Leu476Pro)
|
rs2039195201
|
|
NM_000152.5(GAA):c.1431T>G (p.Ile477Met)
|
rs1598580369
|
|
NM_000152.5(GAA):c.1434G>A (p.Gly478=)
|
rs886043285
|
|
NM_000152.5(GAA):c.1438-10C>G
|
rs1029231930
|
|
NM_000152.5(GAA):c.1438-7_1438-5del
|
rs764583466
|
|
NM_000152.5(GAA):c.1439T>A (p.Val480Glu)
|
|
|
NM_000152.5(GAA):c.1439T>C (p.Val480Ala)
|
rs1224298513
|
|
NM_000152.5(GAA):c.1453A>C (p.Thr485Pro)
|
rs1337100943
|
|
NM_000152.5(GAA):c.1454C>T (p.Thr485Ile)
|
rs2143872073
|
|
NM_000152.5(GAA):c.1456G>A (p.Ala486Thr)
|
rs1283045273
|
|
NM_000152.5(GAA):c.1457C>T (p.Ala486Val)
|
rs2039213698
|
|
NM_000152.5(GAA):c.1468T>C (p.Phe490Leu)
|
rs2143872278
|
|
NM_000152.5(GAA):c.1469T>G (p.Phe490Cys)
|
|
|
NM_000152.5(GAA):c.1472_1474del (p.Thr491del)
|
|
|
NM_000152.5(GAA):c.1484C>T (p.Ala495Val)
|
|
|
NM_000152.5(GAA):c.148G>A (p.Glu50Lys)
|
rs1555598609
|
|
NM_000152.5(GAA):c.1498G>A (p.Glu500Lys)
|
rs1473805095
|
|
NM_000152.5(GAA):c.1502A>G (p.Asp501Gly)
|
rs2143872652
|
|
NM_000152.5(GAA):c.1508T>C (p.Val503Ala)
|
|
|
NM_000152.5(GAA):c.1518C>G (p.Phe506Leu)
|
rs1464913441
|
|
NM_000152.5(GAA):c.1532C>T (p.Pro511Leu)
|
|
|
NM_000152.5(GAA):c.1536C>A (p.Phe512Leu)
|
rs143491365
|
|
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser)
|
rs777571608
|
|
NM_000152.5(GAA):c.1546T>C (p.Trp516Arg)
|
|
|
NM_000152.5(GAA):c.1551+4A>C
|
|
|
NM_000152.5(GAA):c.1551+5G>A
|
rs2039217485
|
|
NM_000152.5(GAA):c.1551+6T>C
|
|
|
NM_000152.5(GAA):c.1552-14_1552-1del
|
rs1567833173
|
|
NM_000152.5(GAA):c.1552-3C>T
|
rs375470378
|
|
NM_000152.5(GAA):c.1553_1555dup (p.Asp518_Met519insAsn)
|
rs2039221468
|
|
NM_000152.5(GAA):c.1559A>G (p.Asn520Ser)
|
rs1555600852
|
|
NM_000152.5(GAA):c.1562A>T (p.Glu521Val)
|
rs1455277014
|
|
NM_000152.5(GAA):c.1568C>G (p.Ser523Cys)
|
rs2039222579
|
|
NM_000152.5(GAA):c.1572C>G (p.Asn524Lys)
|
rs1417304813
|
|
NM_000152.5(GAA):c.1576A>G (p.Ile526Val)
|
rs2039222806
|
|
NM_000152.5(GAA):c.1579A>G (p.Arg527Gly)
|
|
|
NM_000152.5(GAA):c.1580G>A (p.Arg527Lys)
|
|
|
NM_000152.5(GAA):c.1594G>C (p.Gly532Arg)
|
|
|
NM_000152.5(GAA):c.1594G>T (p.Gly532Cys)
|
rs773576381
|
|
NM_000152.5(GAA):c.159C>A (p.His53Gln)
|
|
|
NM_000152.5(GAA):c.1601C>G (p.Pro534Arg)
|
rs1039935633
|
|
NM_000152.5(GAA):c.1601C>T (p.Pro534Leu)
|
rs1039935633
|
|
NM_000152.5(GAA):c.1605C>A (p.Asn535Lys)
|
rs1351247900
|
|
NM_000152.5(GAA):c.1606A>G (p.Asn536Asp)
|
rs2039224225
|
|
NM_000152.5(GAA):c.1608T>G (p.Asn536Lys)
|
rs2039224372
|
|
NM_000152.5(GAA):c.1611G>T (p.Glu537Asp)
|
|
|
NM_000152.5(GAA):c.1619A>G (p.Asn540Ser)
|
rs2039224662
|
|
NM_000152.5(GAA):c.161C>T (p.Pro54Leu)
|
rs768898668
|
|
NM_000152.5(GAA):c.1625C>T (p.Pro542Leu)
|
rs1598582130
|
|
NM_000152.5(GAA):c.1628A>G (p.Tyr543Cys)
|
rs1160583761
|
|
NM_000152.5(GAA):c.1629_1630delinsTA (p.Val544Met)
|
rs1598582152
|
|
NM_000152.5(GAA):c.1631T>A (p.Val544Glu)
|
rs1567833361
|
|
NM_000152.5(GAA):c.1635T>A (p.Pro545=)
|
|
|
NM_000152.5(GAA):c.1636+9G>T
|
rs200302174
|
|
NM_000152.5(GAA):c.1637-10_1637-9delinsGA
|
rs2143882002
|
|
NM_000152.5(GAA):c.1637-12_1637-9del
|
|
|
NM_000152.5(GAA):c.1638G>A (p.Gly546=)
|
rs1260256483
|
|
NM_000152.5(GAA):c.1638_1639delinsCA (p.Val547Met)
|
|
|
NM_000152.5(GAA):c.1642G>T (p.Val548Phe)
|
rs1567834141
|
|
NM_000152.5(GAA):c.1646G>C (p.Gly549Ala)
|
rs2039246325
|
|
NM_000152.5(GAA):c.1649G>T (p.Gly550Val)
|
rs2039246464
|
|
NM_000152.5(GAA):c.1658A>G (p.Gln553Arg)
|
rs746401921
|
|
NM_000152.5(GAA):c.1669A>T (p.Ile557Phe)
|
rs747150965
|
|
NM_000152.5(GAA):c.166C>A (p.His56Asn)
|
|
|
NM_000152.5(GAA):c.1679C>T (p.Ser560Phe)
|
rs576056187
|
|
NM_000152.5(GAA):c.167A>T (p.His56Leu)
|
rs113740017
|
|
NM_000152.5(GAA):c.1692T>G (p.Phe564Leu)
|
rs886043997
|
|
NM_000152.5(GAA):c.1693C>T (p.Leu565Phe)
|
|
|
NM_000152.5(GAA):c.1699A>C (p.Thr567Pro)
|
rs543222774
|
|
NM_000152.5(GAA):c.16C>T (p.Pro6Ser)
|
rs1424116613
|
|
NM_000152.5(GAA):c.1704C>G (p.His568Gln)
|
rs776882059
|
|
NM_000152.5(GAA):c.1711C>G (p.Leu571Val)
|
|
|
NM_000152.5(GAA):c.1715A>C (p.His572Pro)
|
rs1424756308
|
|
NM_000152.5(GAA):c.1719C>A (p.Asn573Lys)
|
rs1175728529
|
|
NM_000152.5(GAA):c.1722C>T (p.Leu574=)
|
rs561357893
|
|
NM_000152.5(GAA):c.1727G>A (p.Gly576Asp)
|
rs1555601255
|
|
NM_000152.5(GAA):c.1734C>T (p.Thr578=)
|
rs149384771
|
|
NM_000152.5(GAA):c.1739C>T (p.Ala580Val)
|
rs909561836
|
|
NM_000152.5(GAA):c.1741A>G (p.Ile581Val)
|
rs559258217
|
|
NM_000152.5(GAA):c.1743C>G (p.Ile581Met)
|
rs527970795
|
|
NM_000152.5(GAA):c.1744G>A (p.Ala582Thr)
|
rs369098202
|
|
NM_000152.5(GAA):c.1744G>C (p.Ala582Pro)
|
|
|
NM_000152.5(GAA):c.1750C>A (p.His584Asn)
|
rs780475756
|
|
NM_000152.5(GAA):c.1753A>T (p.Arg585Trp)
|
rs1555601273
|
|
NM_000152.5(GAA):c.1754+6G>C
|
rs1282791373
|
|
NM_000152.5(GAA):c.1762G>A (p.Val588Met)
|
rs370138790
|
|
NM_000152.5(GAA):c.1780C>T (p.Arg594Cys)
|
rs1428112902
|
|
NM_000152.5(GAA):c.1784C>T (p.Pro595Leu)
|
rs763772240
|
|
NM_000152.5(GAA):c.1794C>G (p.Ile598Met)
|
rs2039262568
|
|
NM_000152.5(GAA):c.17C>A (p.Pro6Gln)
|
rs771409180
|
|
NM_000152.5(GAA):c.1805C>T (p.Thr602Ile)
|
|
|
NM_000152.5(GAA):c.1817A>C (p.His606Pro)
|
rs1311698018
|
|
NM_000152.5(GAA):c.1819_1836dup (p.Gly607_His612dup)
|
rs1555601409
|
|
NM_000152.5(GAA):c.1822C>G (p.Arg608Gly)
|
|
|
NM_000152.5(GAA):c.1823G>T (p.Arg608Leu)
|
rs377126280
|
|
NM_000152.5(GAA):c.1825T>C (p.Tyr609His)
|
|
|
NM_000152.5(GAA):c.1826A>T (p.Tyr609Phe)
|
rs2039264297
|
|
NM_000152.5(GAA):c.1832G>A (p.Gly611Asp)
|
rs1057517105
|
|
NM_000152.5(GAA):c.1834C>A (p.His612Asn)
|
rs2039264895
|
|
NM_000152.5(GAA):c.1837T>C (p.Trp613Arg)
|
|
|
NM_000152.5(GAA):c.1851G>A (p.Val617=)
|
rs886042906
|
|
NM_000152.5(GAA):c.1867C>G (p.Gln623Glu)
|
rs2143889579
|
|
NM_000152.5(GAA):c.1869G>T (p.Gln623His)
|
|
|
NM_000152.5(GAA):c.1870C>T (p.Leu624Phe)
|
rs764377962
|
|
NM_000152.5(GAA):c.1873G>A (p.Ala625Thr)
|
|
|
NM_000152.5(GAA):c.1873G>T (p.Ala625Ser)
|
rs757445420
|
|
NM_000152.5(GAA):c.1876T>C (p.Ser626Pro)
|
rs1235035841
|
|
NM_000152.5(GAA):c.1880C>G (p.Ser627Cys)
|
|
|
NM_000152.5(GAA):c.1880C>T (p.Ser627Phe)
|
rs1024137874
|
|
NM_000152.5(GAA):c.1882G>A (p.Val628Met)
|
rs745911962
|
|
NM_000152.5(GAA):c.1882G>C (p.Val628Leu)
|
|
|
NM_000152.5(GAA):c.1882G>T (p.Val628Leu)
|
rs745911962
|
|
NM_000152.5(GAA):c.1885C>T (p.Pro629Ser)
|
|
|
NM_000152.5(GAA):c.1888+5G>C
|
|
|
NM_000152.5(GAA):c.1888+6_1888+14del
|
rs2039268703
|
|
NM_000152.5(GAA):c.1889-5C>T
|
rs794727115
|
|
NM_000152.5(GAA):c.1895T>C (p.Leu632Pro)
|
|
|
NM_000152.5(GAA):c.1898A>C (p.Gln633Pro)
|
rs2039274878
|
|
NM_000152.5(GAA):c.1919C>T (p.Pro640Leu)
|
|
|
NM_000152.5(GAA):c.1926C>A (p.Val642=)
|
rs1346499760
|
|
NM_000152.5(GAA):c.1941C>T (p.Cys647=)
|
rs776948121
|
|
NM_000152.5(GAA):c.1947C>A (p.Phe649Leu)
|
rs770248553
|
|
NM_000152.5(GAA):c.1948C>A (p.Leu650Met)
|
rs1359573192
|
|
NM_000152.5(GAA):c.194C>A (p.Pro65His)
|
rs1482530928
|
|
NM_000152.5(GAA):c.194C>T (p.Pro65Leu)
|
|
|
NM_000152.5(GAA):c.1952G>A (p.Gly651Asp)
|
rs939350425
|
|
NM_000152.5(GAA):c.1964A>G (p.Glu655Gly)
|
rs1269689890
|
|
NM_000152.5(GAA):c.1968G>C (p.Glu656Asp)
|
|
|
NM_000152.5(GAA):c.1972T>G (p.Cys658Gly)
|
rs2039278476
|
|
NM_000152.5(GAA):c.1975G>C (p.Val659Leu)
|
rs2143892513
|
|
NM_000152.5(GAA):c.1985C>T (p.Thr662Ile)
|
rs2039278795
|
|
NM_000152.5(GAA):c.1996G>A (p.Ala666Thr)
|
rs916566117
|
|
NM_000152.5(GAA):c.1999T>C (p.Phe667Leu)
|
rs2039279293
|
|
NM_000152.5(GAA):c.2003A>G (p.Tyr668Cys)
|
rs1555601633
|
|
NM_000152.5(GAA):c.2005C>G (p.Pro669Ala)
|
|
|
NM_000152.5(GAA):c.2018A>C (p.Asn673Thr)
|
rs1598585837
|
|
NM_000152.5(GAA):c.2030T>A (p.Leu677Gln)
|
rs886053546
|
|
NM_000152.5(GAA):c.2035A>G (p.Ser679Gly)
|
rs1567835990
|
|
NM_000152.5(GAA):c.2040+19_2040+20inv
|
|
|
NM_000152.5(GAA):c.2040+4G>C
|
rs1598585909
|
|
NM_000152.5(GAA):c.2041C>T (p.Pro681Ser)
|
rs2039286160
|
|
NM_000152.5(GAA):c.2045A>G (p.Gln682Arg)
|
rs1484576607
|
|
NM_000152.5(GAA):c.2053_2070del (p.Tyr685_Pro690del)
|
rs1555601721
|
|
NM_000152.5(GAA):c.2057_2058delinsAA (p.Ser686Lys)
|
rs1598586309
|
|
NM_000152.5(GAA):c.205C>G (p.Gln69Glu)
|
rs370174315
|
|
NM_000152.5(GAA):c.2064C>A (p.Ser688Arg)
|
|
|
NM_000152.5(GAA):c.2064C>T (p.Ser688=)
|
rs140996643
|
|
NM_000152.5(GAA):c.2077C>A (p.Gln693Lys)
|
rs2039287681
|
|
NM_000152.5(GAA):c.2084T>C (p.Met695Thr)
|
rs2143895805
|
|
NM_000152.5(GAA):c.2093C>T (p.Ala698Val)
|
rs1001458871
|
|
NM_000152.5(GAA):c.2099C>T (p.Thr700Ile)
|
rs2039288481
|
|
NM_000152.5(GAA):c.209C>A (p.Ala70Glu)
|
rs775376321
|
|
NM_000152.5(GAA):c.2101C>G (p.Leu701Val)
|
|
|
NM_000152.5(GAA):c.2105G>C (p.Arg702Pro)
|
rs398123172
|
|
NM_000152.5(GAA):c.2108A>G (p.Tyr703Cys)
|
|
|
NM_000152.5(GAA):c.2110G>A (p.Ala704Thr)
|
rs375681364
|
|
NM_000152.5(GAA):c.2110G>C (p.Ala704Pro)
|
rs375681364
|
|
NM_000152.5(GAA):c.2110G>T (p.Ala704Ser)
|
rs375681364
|
|
NM_000152.5(GAA):c.2112A>C (p.Ala704=)
|
rs1449566083
|
|
NM_000152.5(GAA):c.2120C>T (p.Pro707Leu)
|
rs139009731
|
|
NM_000152.5(GAA):c.2122C>A (p.His708Asn)
|
rs149916476
|
|
NM_000152.5(GAA):c.2122C>G (p.His708Asp)
|
rs149916476
|
|
NM_000152.5(GAA):c.2124C>G (p.His708Gln)
|
rs751187069
|
|
NM_000152.5(GAA):c.212A>G (p.His71Arg)
|
rs760205477
|
|
NM_000152.5(GAA):c.2132_2133delinsGG (p.Thr711Arg)
|
rs1555601773
|
|
NM_000152.5(GAA):c.2132_2133inv (p.Thr711Met)
|
|
|
NM_000152.5(GAA):c.2140C>T (p.His714Tyr)
|
rs1332887976
|
|
NM_000152.5(GAA):c.2152G>C (p.Val718Leu)
|
|
|
NM_000152.5(GAA):c.2155G>A (p.Ala719Thr)
|
rs143324027
|
|
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser)
|
rs143324027
|
|
NM_000152.5(GAA):c.2156C>T (p.Ala719Val)
|
rs146762316
|
|
NM_000152.5(GAA):c.2170G>A (p.Ala724Thr)
|
rs1393059819
|
|
NM_000152.5(GAA):c.217G>T (p.Gly73Cys)
|
rs760644219
|
|
NM_000152.5(GAA):c.2189+3G>C
|
rs2143897458
|
|
NM_000152.5(GAA):c.2189+5_2189+8del
|
rs2039293139
|
|
NM_000152.5(GAA):c.2190-10C>A
|
rs1567838707
|
|
NM_000152.5(GAA):c.2203T>A (p.Ser735Thr)
|
rs1377188867
|
|
NM_000152.5(GAA):c.2204C>G (p.Ser735Cys)
|
|
|
NM_000152.5(GAA):c.2204C>T (p.Ser735Phe)
|
|
|
NM_000152.5(GAA):c.2207G>A (p.Ser736Asn)
|
rs553430197
|
|
NM_000152.5(GAA):c.2210C>T (p.Thr737Ile)
|
|
|
NM_000152.5(GAA):c.2215A>G (p.Thr739Ala)
|
rs578245757
|
|
NM_000152.5(GAA):c.2218G>A (p.Val740Met)
|
rs752122499
|
|
NM_000152.5(GAA):c.2223C>G (p.Asp741Glu)
|
rs767773929
|
|
NM_000152.5(GAA):c.2230C>T (p.Leu744Phe)
|
rs1347832021
|
|
NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)
|
rs1479740763
|
|
NM_000152.5(GAA):c.2237G>T (p.Trp746Leu)
|
rs752921215
|
|
NM_000152.5(GAA):c.2239G>T (p.Gly747Trp)
|
rs778981088
|
|
NM_000152.5(GAA):c.223C>T (p.Pro75Ser)
|
rs755561471
|
|
NM_000152.5(GAA):c.2242G>A (p.Glu748Lys)
|
rs1057516363
|
|
NM_000152.5(GAA):c.224C>G (p.Pro75Arg)
|
rs1555598675
|
|
NM_000152.5(GAA):c.2266C>T (p.Leu756Phe)
|
|
|
NM_000152.5(GAA):c.2270A>G (p.Gln757Arg)
|
rs768165130
|
|
NM_000152.5(GAA):c.2280G>T (p.Lys760Asn)
|
rs2143919634
|
|
NM_000152.5(GAA):c.2294G>T (p.Gly765Val)
|
rs1292367136
|
|
NM_000152.5(GAA):c.229G>T (p.Ala77Ser)
|
rs781365881
|
|
NM_000152.5(GAA):c.2306T>C (p.Leu769Ser)
|
rs2039369551
|
|
NM_000152.5(GAA):c.2307G>A (p.Leu769=)
|
rs372800172
|
|
NM_000152.5(GAA):c.2307G>C (p.Leu769Phe)
|
rs372800172
|
|
NM_000152.5(GAA):c.2314T>C (p.Trp772Arg)
|
rs1555602703
|
|
NM_000152.5(GAA):c.2316G>T (p.Trp772Cys)
|
rs1057524664
|
|
NM_000152.5(GAA):c.2327A>G (p.Gln776Arg)
|
|
|
NM_000152.5(GAA):c.2330_2331+4dup
|
rs762245732
|
|
NM_000152.5(GAA):c.2331+4A>C
|
rs2039371081
|
|
NM_000152.5(GAA):c.2331+6T>G
|
|
|
NM_000152.5(GAA):c.2332-16C>T
|
rs2039383167
|
|
NM_000152.5(GAA):c.2338G>C (p.Val780Leu)
|
rs1126690
|
|
NM_000152.5(GAA):c.2341G>A (p.Glu781Lys)
|
|
|
NM_000152.5(GAA):c.2345C>T (p.Ala782Val)
|
rs994916972
|
|
NM_000152.5(GAA):c.2347C>T (p.Leu783Phe)
|
rs762310752
|
|
NM_000152.5(GAA):c.2354G>T (p.Ser785Ile)
|
|
|
NM_000152.5(GAA):c.2359C>A (p.Pro787Thr)
|
|
|
NM_000152.5(GAA):c.235C>T (p.Pro79Ser)
|
rs756342288
|
|
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr)
|
rs2039384789
|
|
NM_000152.5(GAA):c.2362C>T (p.Pro788Ser)
|
|
|
NM_000152.5(GAA):c.2363C>A (p.Pro788His)
|
|
|
NM_000152.5(GAA):c.2366C>A (p.Pro789Gln)
|
rs773629231
|
|
NM_000152.5(GAA):c.2368C>T (p.Pro790Ser)
|
rs776111131
|
|
NM_000152.5(GAA):c.2380C>T (p.Arg794Cys)
|
|
|
NM_000152.5(GAA):c.2381G>C (p.Arg794Pro)
|
rs200505871
|
|
NM_000152.5(GAA):c.2389G>A (p.Ala797Thr)
|
rs539031621
|
|
NM_000152.5(GAA):c.2391C>T (p.Ala797=)
|
rs767494597
|
|
NM_000152.5(GAA):c.2405G>A (p.Gly802Glu)
|
|
|
NM_000152.5(GAA):c.2410T>C (p.Trp804Arg)
|
rs2143925115
|
|
NM_000152.5(GAA):c.2416A>C (p.Thr806Pro)
|
|
|
NM_000152.5(GAA):c.2428C>T (p.Pro810Ser)
|
rs774470696
|
|
NM_000152.5(GAA):c.2431C>G (p.Leu811Val)
|
|
|
NM_000152.5(GAA):c.2444A>C (p.Asn815Thr)
|
rs1365945556
|
|
NM_000152.5(GAA):c.244T>C (p.Cys82Arg)
|
rs1252748852
|
|
NM_000152.5(GAA):c.2452C>T (p.Leu818Phe)
|
|
|
NM_000152.5(GAA):c.2453T>C (p.Leu818Pro)
|
|
|
NM_000152.5(GAA):c.2459_2461del (p.Ala820del)
|
rs1182634884
|
|
NM_000152.5(GAA):c.2463G>C (p.Gly821=)
|
|
|
NM_000152.5(GAA):c.2467A>G (p.Ile823Val)
|
|
|
NM_000152.5(GAA):c.2467A>T (p.Ile823Phe)
|
rs758038288
|
|
NM_000152.5(GAA):c.2474C>T (p.Pro825Leu)
|
rs886042703
|
|
NM_000152.5(GAA):c.2480A>G (p.Gln827Arg)
|
rs1555602967
|
|
NM_000152.5(GAA):c.2481+4C>G
|
|
|
NM_000152.5(GAA):c.2481+5C>G
|
rs1598592432
|
|
NM_000152.5(GAA):c.2481+6T>C
|
rs1479232207
|
|
NM_000152.5(GAA):c.2482-5T>C
|
rs1290870969
|
|
NM_000152.5(GAA):c.2486C>G (p.Pro829Arg)
|
rs778187006
|
|
NM_000152.5(GAA):c.2488G>C (p.Gly830Arg)
|
rs1598593166
|
|
NM_000152.5(GAA):c.2489G>C (p.Gly830Ala)
|
|
|
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile)
|
rs1555603057
|
|
NM_000152.5(GAA):c.2498C>T (p.Thr833Ile)
|
|
|
NM_000152.5(GAA):c.2505G>C (p.Glu835Asp)
|
rs771259598
|
|
NM_000152.5(GAA):c.2515C>A (p.Gln839Lys)
|
rs920085419
|
|
NM_000152.5(GAA):c.2518C>G (p.Pro840Ala)
|
rs930247743
|
|
NM_000152.5(GAA):c.2522T>C (p.Met841Thr)
|
rs758016479
|
|
NM_000152.5(GAA):c.2523G>C (p.Met841Ile)
|
rs1555603087
|
|
NM_000152.5(GAA):c.2525C>T (p.Ala842Val)
|
rs2143929732
|
|
NM_000152.5(GAA):c.2527C>G (p.Leu843Val)
|
rs2143929760
|
|
NM_000152.5(GAA):c.2528T>C (p.Leu843Pro)
|
rs775524898
|
|
NM_000152.5(GAA):c.2540T>G (p.Leu847Arg)
|
rs1555603096
|
|
NM_000152.5(GAA):c.2552G>A (p.Gly851Glu)
|
rs764943318
|
|
NM_000152.5(GAA):c.2555A>G (p.Glu852Gly)
|
rs2039404008
|
|
NM_000152.5(GAA):c.2566G>A (p.Glu856Lys)
|
rs1039438307
|
|
NM_000152.5(GAA):c.2581G>C (p.Asp861His)
|
|
|
NM_000152.5(GAA):c.2584G>A (p.Gly862Arg)
|
rs1555603113
|
|
NM_000152.5(GAA):c.2597A>C (p.Glu866Ala)
|
rs951742543
|
|
NM_000152.5(GAA):c.259A>C (p.Asn87His)
|
|
|
NM_000152.5(GAA):c.261C>G (p.Asn87Lys)
|
rs1052555748
|
|
NM_000152.5(GAA):c.2637G>A (p.Leu879=)
|
rs2039406388
|
|
NM_000152.5(GAA):c.2645A>G (p.Asn882Ser)
|
|
|
NM_000152.5(GAA):c.2646+3G>A
|
|
|
NM_000152.5(GAA):c.2646+4A>C
|
|
|
NM_000152.5(GAA):c.2646+4A>G
|
|
|
NM_000152.5(GAA):c.2647-20T>G
|
rs1555603208
|
|
NM_000152.5(GAA):c.2647-23del
|
rs749000061
|
|
NM_000152.5(GAA):c.264C>G (p.Ser88Arg)
|
|
|
NM_000152.5(GAA):c.2672G>C (p.Arg891Pro)
|
rs199524847
|
|
NM_000152.5(GAA):c.2672G>T (p.Arg891Leu)
|
rs199524847
|
|
NM_000152.5(GAA):c.2678C>T (p.Thr893Ile)
|
|
|
NM_000152.5(GAA):c.2684A>G (p.Glu895Gly)
|
|
|
NM_000152.5(GAA):c.268T>A (p.Phe90Ile)
|
rs755402236
|
|
NM_000152.5(GAA):c.2696T>G (p.Leu899Arg)
|
|
|
NM_000152.5(GAA):c.26C>T (p.Ser9Phe)
|
rs1598568879
|
|
NM_000152.5(GAA):c.2705A>G (p.Gln902Arg)
|
|
|
NM_000152.5(GAA):c.2714C>G (p.Thr905Ser)
|
|
|
NM_000152.5(GAA):c.271G>T (p.Asp91Tyr)
|
rs1800299
|
|
NM_000152.5(GAA):c.2722G>A (p.Gly908Ser)
|
|
|
NM_000152.5(GAA):c.2722G>T (p.Gly908Cys)
|
rs2039415739
|
|
NM_000152.5(GAA):c.2723G>T (p.Gly908Val)
|
rs2143933949
|
|
NM_000152.5(GAA):c.2729C>T (p.Ala910Val)
|
|
|
NM_000152.5(GAA):c.2732C>T (p.Thr911Met)
|
rs1027032995
|
|
NM_000152.5(GAA):c.2741A>C (p.Gln914Pro)
|
|
|
NM_000152.5(GAA):c.2744A>C (p.Gln915Pro)
|
rs1555603272
|
|
NM_000152.5(GAA):c.2745G>C (p.Gln915His)
|
rs2143934282
|
|
NM_000152.5(GAA):c.2746G>T (p.Val916Phe)
|
rs1221948995
|
|
NM_000152.5(GAA):c.2753C>T (p.Ser918Phe)
|
rs773667152
|
|
NM_000152.5(GAA):c.2757del (p.Asn919fs)
|
rs1555603283
|
|
NM_000152.5(GAA):c.2758G>T (p.Gly920Cys)
|
|
|
NM_000152.5(GAA):c.2759G>A (p.Gly920Asp)
|
|
|
NM_000152.5(GAA):c.2761G>T (p.Val921Phe)
|
rs1555603286
|
|
NM_000152.5(GAA):c.2776T>C (p.Phe926Leu)
|
rs1555603301
|
|
NM_000152.5(GAA):c.2788C>A (p.Pro930Thr)
|
rs1598594483
|
|
NM_000152.5(GAA):c.2790C>T (p.Pro930=)
|
rs2039418269
|
|
NM_000152.5(GAA):c.2791G>A (p.Asp931Asn)
|
rs756199247
|
|
NM_000152.5(GAA):c.2798A>G (p.Lys933Arg)
|
|
|
NM_000152.5(GAA):c.2799+2C>A
|
rs1555603318
|
|
NM_000152.5(GAA):c.2799+2C>T
|
rs1555603318
|
|
NM_000152.5(GAA):c.2799+4A>T
|
|
|
NM_000152.5(GAA):c.2799+5G>A
|
|
|
NM_000152.5(GAA):c.2800-15CT[3]
|
rs770227589
|
|
NM_000152.5(GAA):c.2800-1G>A
|
|
|
NM_000152.5(GAA):c.2800-9C>G
|
rs886053547
|
|
NM_000152.5(GAA):c.2811C>G (p.Ile937Met)
|
rs2039429760
|
|
NM_000152.5(GAA):c.2811_2819del (p.Ile937_Ser940delinsMet)
|
rs1555603411
|
|
NM_000152.5(GAA):c.2815_2816del (p.Val939fs)
|
rs763359208
|
|
NM_000152.5(GAA):c.2829G>A (p.Met943Ile)
|
rs2039430526
|
|
NM_000152.5(GAA):c.2853G>A (p.Trp951Ter)
|
rs1555603436
|
|
NM_000152.5(GAA):c.2855G>T (p.Cys952Phe)
|
|
|
NM_000152.5(GAA):c.2857T>C (p.Ter953Gln)
|
|
|
NM_000152.5(GAA):c.2858A>G (p.Ter953Trp)
|
rs958648168
|
|
NM_000152.5(GAA):c.2859G>T (p.Ter953Tyr)
|
rs1334316018
|
|
NM_000152.5(GAA):c.289G>A (p.Ala97Thr)
|
rs2143827017
|
|
NM_000152.5(GAA):c.298C>G (p.Gln100Glu)
|
|
|
NM_000152.5(GAA):c.29A>T (p.His10Leu)
|
|
|
NM_000152.5(GAA):c.310G>A (p.Glu104Lys)
|
rs201902338
|
|
NM_000152.5(GAA):c.310G>C (p.Glu104Gln)
|
rs201902338
|
|
NM_000152.5(GAA):c.311_313del (p.Glu104del)
|
rs2039038181
|
|
NM_000152.5(GAA):c.318_323dup (p.Gly107_Cys108dup)
|
rs2143827403
|
|
NM_000152.5(GAA):c.31C>G (p.Arg11Gly)
|
rs772394815
|
|
NM_000152.5(GAA):c.32G>T (p.Arg11Leu)
|
rs138812846
|
|
NM_000152.5(GAA):c.341A>G (p.Lys114Arg)
|
|
|
NM_000152.5(GAA):c.347G>A (p.Gly116Glu)
|
rs754285414
|
|
NM_000152.5(GAA):c.347G>C (p.Gly116Ala)
|
rs754285414
|
|
NM_000152.5(GAA):c.355G>A (p.Gly119Arg)
|
rs1555598802
|
|
NM_000152.5(GAA):c.368G>T (p.Gly123Val)
|
rs138034915
|
|
NM_000152.5(GAA):c.383T>C (p.Phe128Ser)
|
rs2039041547
|
|
NM_000152.5(GAA):c.391CCCAGCTAC[3] (p.131PSY[3])
|
rs1555598846
|
|
NM_000152.5(GAA):c.396C>G (p.Ser132Arg)
|
rs2143828304
|
|
NM_000152.5(GAA):c.407A>G (p.Tyr136Cys)
|
|
|
NM_000152.5(GAA):c.415G>A (p.Glu139Lys)
|
|
|
NM_000152.5(GAA):c.419A>T (p.Asn140Ile)
|
|
|
NM_000152.5(GAA):c.41C>T (p.Ala14Val)
|
rs1221096819
|
|
NM_000152.5(GAA):c.421C>A (p.Leu141Met)
|
rs1379595858
|
|
NM_000152.5(GAA):c.427T>G (p.Ser143Ala)
|
rs1423110429
|
|
NM_000152.5(GAA):c.433G>A (p.Glu145Lys)
|
rs2143828679
|
|
NM_000152.5(GAA):c.446C>A (p.Thr149Lys)
|
|
|
NM_000152.5(GAA):c.448G>A (p.Ala150Thr)
|
rs991177340
|
|
NM_000152.5(GAA):c.452C>T (p.Thr151Ile)
|
rs1567826289
|
|
NM_000152.5(GAA):c.460_465del (p.Arg154_Thr155del)
|
rs1555598888
|
|
NM_000152.5(GAA):c.466A>T (p.Thr156Ser)
|
rs1598570529
|
|
NM_000152.5(GAA):c.467C>A (p.Thr156Asn)
|
rs1394741472
|
|
NM_000152.5(GAA):c.467C>T (p.Thr156Ile)
|
rs1394741472
|
|
NM_000152.5(GAA):c.482C>A (p.Pro161His)
|
|
|
NM_000152.5(GAA):c.485A>G (p.Lys162Arg)
|
|
|
NM_000152.5(GAA):c.487G>A (p.Asp163Asn)
|
rs1204103099
|
|
NM_000152.5(GAA):c.497C>T (p.Thr166Ile)
|
|
|
NM_000152.5(GAA):c.49G>T (p.Ala17Ser)
|
rs751425831
|
|
NM_000152.5(GAA):c.503G>C (p.Arg168Pro)
|
rs376685205
|
|
NM_000152.5(GAA):c.515T>C (p.Met172Thr)
|
|
|
NM_000152.5(GAA):c.52C>T (p.Leu18Phe)
|
|
|
NM_000152.5(GAA):c.531C>T (p.Asn177=)
|
rs886053544
|
|
NM_000152.5(GAA):c.545C>G (p.Thr182Arg)
|
rs200524747
|
|
NM_000152.5(GAA):c.545C>T (p.Thr182Met)
|
rs200524747
|
|
NM_000152.5(GAA):c.546+5G>A
|
|
|
NM_000152.5(GAA):c.546+5G>T
|
rs756024023
|
|
NM_000152.5(GAA):c.547-5_547-4delinsGG
|
|
|
NM_000152.5(GAA):c.547A>G (p.Ile183Val)
|
|
|
NM_000152.5(GAA):c.54C>T (p.Leu18=)
|
rs886053542
|
|
NM_000152.5(GAA):c.557C>A (p.Pro186Gln)
|
|
|
NM_000152.5(GAA):c.566G>A (p.Arg189Lys)
|
rs1598571878
|
|
NM_000152.5(GAA):c.569G>T (p.Arg190Leu)
|
rs528367092
|
|
NM_000152.5(GAA):c.571T>G (p.Tyr191Asp)
|
rs149295512
|
|
NM_000152.5(GAA):c.572A>G (p.Tyr191Cys)
|
|
|
NM_000152.5(GAA):c.583T>G (p.Leu195Val)
|
rs1323831512
|
|
NM_000152.5(GAA):c.58T>A (p.Ser20Thr)
|
|
|
NM_000152.5(GAA):c.590C>A (p.Thr197Asn)
|
rs761890037
|
|
NM_000152.5(GAA):c.590C>T (p.Thr197Ile)
|
rs761890037
|
|
NM_000152.5(GAA):c.593C>A (p.Pro198Gln)
|
rs765075888
|
|
NM_000152.5(GAA):c.593C>T (p.Pro198Leu)
|
|
|
NM_000152.5(GAA):c.595_596inv (p.His199Cys)
|
|
|
NM_000152.5(GAA):c.596A>T (p.His199Leu)
|
|
|
NM_000152.5(GAA):c.598G>T (p.Val200Phe)
|
|
|
NM_000152.5(GAA):c.599T>A (p.Val200Asp)
|
|
|
NM_000152.5(GAA):c.59C>G (p.Ser20Cys)
|
rs752449306
|
|
NM_000152.5(GAA):c.5G>C (p.Gly2Ala)
|
rs1245992455
|
|
NM_000152.5(GAA):c.613C>G (p.Pro205Ala)
|
|
|
NM_000152.5(GAA):c.613C>T (p.Pro205Ser)
|
|
|
NM_000152.5(GAA):c.616T>C (p.Ser206Pro)
|
|
|
NM_000152.5(GAA):c.619C>T (p.Pro207Ser)
|
|
|
NM_000152.5(GAA):c.623T>C (p.Leu208Pro)
|
rs2039071572
|
|
NM_000152.5(GAA):c.626A>G (p.Tyr209Cys)
|
|
|
NM_000152.5(GAA):c.632_643del (p.Val211_Ser214del)
|
rs1555599099
|
|
NM_000152.5(GAA):c.637T>C (p.Phe213Leu)
|
|
|
NM_000152.5(GAA):c.649C>T (p.Pro217Ser)
|
rs1567827215
|
|
NM_000152.5(GAA):c.663C>G (p.Ile221Met)
|
rs142878958
|
|
NM_000152.5(GAA):c.667C>T (p.Arg223Cys)
|
rs886043961
|
|
NM_000152.5(GAA):c.667_668delinsTA (p.Arg223Tyr)
|
rs2143834814
|
|
NM_000152.5(GAA):c.679G>T (p.Asp227Tyr)
|
rs1477774826
|
|
NM_000152.5(GAA):c.686G>C (p.Arg229Pro)
|
rs776509432
|
|
NM_000152.5(GAA):c.688G>A (p.Val230Met)
|
rs145866792
|
|
NM_000152.5(GAA):c.688G>C (p.Val230Leu)
|
rs145866792
|
|
NM_000152.5(GAA):c.68C>T (p.Thr23Ile)
|
rs2039027538
|
|
NM_000152.5(GAA):c.693-5C>G
|
rs763538104
|
|
NM_000152.5(GAA):c.703A>G (p.Thr235Ala)
|
rs781731240
|
|
NM_000152.5(GAA):c.710C>T (p.Ala237Val)
|
rs121907944
|
|
NM_000152.5(GAA):c.712C>T (p.Pro238Ser)
|
rs1294294268
|
|
NM_000152.5(GAA):c.716T>C (p.Leu239Pro)
|
rs2143845990
|
|
NM_000152.5(GAA):c.725C>T (p.Ala242Val)
|
rs745861849
|
|
NM_000152.5(GAA):c.732G>C (p.Gln244His)
|
rs1178922366
|
|
NM_000152.5(GAA):c.733T>G (p.Phe245Val)
|
|
|
NM_000152.5(GAA):c.737T>G (p.Leu246Arg)
|
rs1555599608
|
|
NM_000152.5(GAA):c.750C>T (p.Thr250=)
|
rs2143846283
|
|
NM_000152.5(GAA):c.752C>G (p.Ser251Trp)
|
|
|
NM_000152.5(GAA):c.757C>T (p.Pro253Ser)
|
rs2143846362
|
|
NM_000152.5(GAA):c.769A>G (p.Ile257Val)
|
rs199674786
|
|
NM_000152.5(GAA):c.775G>A (p.Gly259Ser)
|
rs2143846660
|
|
NM_000152.5(GAA):c.77T>G (p.Leu26Arg)
|
rs1385098269
|
|
NM_000152.5(GAA):c.781G>C (p.Ala261Pro)
|
rs543360994
|
|
NM_000152.5(GAA):c.782C>T (p.Ala261Val)
|
rs2143846719
|
|
NM_000152.5(GAA):c.787C>T (p.His263Tyr)
|
rs1555599660
|
|
NM_000152.5(GAA):c.790C>T (p.Leu264Phe)
|
|
|
NM_000152.5(GAA):c.794G>A (p.Ser265Asn)
|
rs772002851
|
|
NM_000152.5(GAA):c.796C>A (p.Pro266Thr)
|
rs1555599667
|
|
NM_000152.5(GAA):c.809G>A (p.Ser270Asn)
|
rs1429834723
|
|
NM_000152.5(GAA):c.816C>G (p.Ser272Arg)
|
|
|
NM_000152.5(GAA):c.821C>T (p.Thr274Ile)
|
|
|
NM_000152.5(GAA):c.830C>T (p.Thr277Ile)
|
rs1598575278
|
|
NM_000152.5(GAA):c.840_842dup (p.Arg281dup)
|
rs2039123030
|
|
NM_000152.5(GAA):c.851C>A (p.Ala284Glu)
|
|
|
NM_000152.5(GAA):c.851C>T (p.Ala284Val)
|
rs147569830
|
|
NM_000152.5(GAA):c.858+10C>T
|
rs758283022
|
|
NM_000152.5(GAA):c.858+4C>G
|
rs886042706
|
|
NM_000152.5(GAA):c.858+5A>G
|
rs2039124887
|
|
NM_000152.5(GAA):c.858+7_858+8insAGCGGGCGGCGGGC
|
rs3071247
|
|
NM_000152.5(GAA):c.859-10C>T
|
rs2143848802
|
|
NM_000152.5(GAA):c.859-3C>T
|
rs1356743231
|
|
NM_000152.5(GAA):c.859-8T>G
|
rs2143848824
|
|
NM_000152.5(GAA):c.866C>A (p.Ala289Glu)
|
|
|
NM_000152.5(GAA):c.883C>A (p.His295Asn)
|
rs751639773
|
|
NM_000152.5(GAA):c.883C>T (p.His295Tyr)
|
rs751639773
|
|
NM_000152.5(GAA):c.899C>A (p.Ala300Glu)
|
rs1032949450
|
|
NM_000152.5(GAA):c.8T>C (p.Val3Ala)
|
rs1037603957
|
|
NM_000152.5(GAA):c.924C>A (p.His308Gln)
|
rs370105640
|
|
NM_000152.5(GAA):c.928G>A (p.Val310Met)
|
|
|
NM_000152.5(GAA):c.928G>T (p.Val310Leu)
|
rs941586376
|
|
NM_000152.5(GAA):c.93_95del (p.Leu32del)
|
rs1278892703
|
|
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
NM_000152.5(GAA):c.954G>A (p.Met318Ile)
|
rs2143850104
|
|
NM_000152.5(GAA):c.955+5G>A
|
rs759508507
|
|
NM_000152.5(GAA):c.955G>A (p.Asp319Asn)
|
rs1359009455
|
|
NM_000152.5(GAA):c.956-3C>T
|
rs1421879461
|
|
NM_000152.5(GAA):c.956-8C>A
|
rs369149976
|
|
NM_000152.5(GAA):c.956A>G (p.Asp319Gly)
|
|
|
NM_000152.5(GAA):c.958_959delinsAG (p.Val320Arg)
|
|
|
NM_000152.5(GAA):c.960G>A (p.Val320=)
|
rs2143852588
|
|
NM_000152.5(GAA):c.961G>A (p.Val321Ile)
|
rs895612400
|
|
NM_000152.5(GAA):c.961G>T (p.Val321Phe)
|
|
|
NM_000152.5(GAA):c.971C>G (p.Pro324Arg)
|
|
|
NM_000152.5(GAA):c.974G>A (p.Ser325Asn)
|
rs905633601
|
|
NM_000152.5(GAA):c.976C>T (p.Pro326Ser)
|
rs2039142344
|
|
NM_000152.5(GAA):c.982C>T (p.Leu328Phe)
|
rs1555599956
|
|
NM_000152.5(GAA):c.98A>G (p.His33Arg)
|
rs773479616
|
|
NM_000154.2(GALK1):c.-27A>C
|
rs767223937
|
|
NM_000154.2(GALK1):c.-33_-20dup
|
rs1555748974
|
|
NM_000154.2(GALK1):c.1012dup (p.Val338fs)
|
rs1555747776
|
|
NM_000154.2(GALK1):c.1055C>A (p.Thr352Lys)
|
|
|
NM_000154.2(GALK1):c.1094T>C (p.Met365Thr)
|
rs2061563511
|
|
NM_000154.2(GALK1):c.1096C>G (p.Arg366Gly)
|
rs536478616
|
|
NM_000154.2(GALK1):c.1132T>G (p.Phe378Val)
|
|
|
NM_000154.2(GALK1):c.116A>C (p.Asn39Thr)
|
rs536209426
|
|
NM_000154.2(GALK1):c.117C>T (p.Asn39=)
|
rs1599336904
|
|
NM_000154.2(GALK1):c.121A>T (p.Ile41Phe)
|
rs1185378925
|
|
NM_000154.2(GALK1):c.130C>T (p.His44Tyr)
|
rs1555748926
|
|
NM_000154.2(GALK1):c.163A>G (p.Met55Val)
|
rs925336919
|
|
NM_000154.2(GALK1):c.270T>G (p.Phe90Leu)
|
|
|
NM_000154.2(GALK1):c.37C>A (p.Leu13Met)
|
rs1001223598
|
|
NM_000154.2(GALK1):c.396A>G (p.Ser132=)
|
rs766401384
|
|
NM_000154.2(GALK1):c.406G>C (p.Gly136Arg)
|
|
|
NM_000154.2(GALK1):c.409G>C (p.Gly137Arg)
|
rs1555748630
|
|
NM_000154.2(GALK1):c.42C>G (p.Ala14=)
|
rs905607688
|
|
NM_000154.2(GALK1):c.442G>T (p.Ala148Ser)
|
|
|
NM_000154.2(GALK1):c.479C>T (p.Ser160Leu)
|
rs575077063
|
|
NM_000154.2(GALK1):c.511CAG[1] (p.Gln172del)
|
rs1555748595
|
|
NM_000154.2(GALK1):c.56C>A (p.Ala19Asp)
|
|
|
NM_000154.2(GALK1):c.658G>A (p.Val220Met)
|
|
|
NM_000154.2(GALK1):c.719G>A (p.Arg240Gln)
|
|
|
NM_000154.2(GALK1):c.787C>T (p.Leu263=)
|
rs886053420
|
|
NM_000154.2(GALK1):c.796G>A (p.Ala266Thr)
|
|
|
NM_000154.2(GALK1):c.826C>T (p.Arg276Trp)
|
|
|
NM_000154.2(GALK1):c.82C>T (p.Pro28Ser)
|
rs104894572
|
|
NM_000154.2(GALK1):c.859C>T (p.Arg287Cys)
|
|
|
NM_000154.2(GALK1):c.864G>A (p.Thr288=)
|
rs201247556
|
|
NM_000154.2(GALK1):c.866C>T (p.Ala289Val)
|
|
|
NM_000154.2(GALK1):c.919A>C (p.Met307Leu)
|
rs2061566977
|
|
NM_000154.2(GALK1):c.949G>A (p.Asp317Asn)
|
|
|
NM_000154.2(GALK1):c.998T>G (p.Leu333Arg)
|
rs2061565422
|
|
NM_000155.3(GALT):c.-130_-129insCAGT
|
rs111033640
|
|
NM_000155.3(GALT):c.-38G>A
|
rs886063883
|
|
NM_000155.3(GALT):c.-96T>G
|
rs1554709099
|
|
NM_000155.4(GALT):c.*138C>T
|
rs1821232966
|
|
NM_000155.4(GALT):c.*18C>G
|
rs771618527
|
|
NM_000155.4(GALT):c.*96A>C
|
rs967576667
|
|
NM_000155.4(GALT):c.-11C>A
|
rs1821109207
|
|
NM_000155.4(GALT):c.1008G>A (p.Met336Ile)
|
rs770770917
|
|
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)
|
rs111033836
|
|
NM_000155.4(GALT):c.1024C>A (p.Leu342Ile)
|
rs111033812
|
|
NM_000155.4(GALT):c.1042G>A (p.Asp348Asn)
|
|
|
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn)
|
rs775317639
|
|
NM_000155.4(GALT):c.1055A>G (p.Glu352Gly)
|
rs1821203474
|
|
NM_000155.4(GALT):c.1060-331G>C
|
rs2132347271
|
|
NM_000155.4(GALT):c.1085C>T (p.Pro362Leu)
|
rs1821228380
|
|
NM_000155.4(GALT):c.1094A>G (p.His365Arg)
|
rs1821228599
|
|
NM_000155.4(GALT):c.1108C>T (p.Gln370Ter)
|
rs111033823
|
|
NM_000155.4(GALT):c.1117_1118del (p.Arg373fs)
|
|
|
NM_000155.4(GALT):c.152G>A (p.Arg51Gln)
|
rs111033648
|
|
NM_000155.4(GALT):c.157T>A (p.Trp53Arg)
|
rs1131691837
|
|
NM_000155.4(GALT):c.157T>C (p.Trp53Arg)
|
rs1131691837
|
|
NM_000155.4(GALT):c.172G>A (p.Glu58Lys)
|
rs1554709147
|
|
NM_000155.4(GALT):c.173A>T (p.Glu58Val)
|
|
|
NM_000155.4(GALT):c.194T>C (p.Val65Ala)
|
|
|
NM_000155.4(GALT):c.19G>T (p.Asp7Tyr)
|
rs1469998825
|
|
NM_000155.4(GALT):c.203A>C (p.His68Pro)
|
rs193922247
|
|
NM_000155.4(GALT):c.203A>G (p.His68Arg)
|
rs193922247
|
|
NM_000155.4(GALT):c.211C>G (p.Leu71Val)
|
rs143994870
|
|
NM_000155.4(GALT):c.247G>A (p.Gly83Arg)
|
rs111033660
|
|
NM_000155.4(GALT):c.252G>A (p.Glu84=)
|
|
|
NM_000155.4(GALT):c.253-6C>A
|
rs753450355
|
|
NM_000155.4(GALT):c.253-6C>G
|
|
|
NM_000155.4(GALT):c.278T>C (p.Phe93Ser)
|
rs1821135918
|
|
NM_000155.4(GALT):c.27G>C (p.Gln9His)
|
rs111033637
|
|
NM_000155.4(GALT):c.285T>G (p.Phe95Leu)
|
rs111033668
|
|
NM_000155.4(GALT):c.295T>A (p.Phe99Ile)
|
rs1223049216
|
|
NM_000155.4(GALT):c.298C>G (p.Pro100Ala)
|
|
|
NM_000155.4(GALT):c.299C>G (p.Pro100Arg)
|
rs1057524572
|
|
NM_000155.4(GALT):c.302C>G (p.Ala101Gly)
|
|
|
NM_000155.4(GALT):c.31C>G (p.Arg11Gly)
|
|
|
NM_000155.4(GALT):c.328+33G>A
|
rs767197888
|
|
NM_000155.4(GALT):c.32G>A (p.Arg11His)
|
rs757632977
|
|
NM_000155.4(GALT):c.336T>G (p.Ser112Arg)
|
rs367543254
|
|
NM_000155.4(GALT):c.346C>A (p.Leu116Ile)
|
rs1554709252
|
|
NM_000155.4(GALT):c.346C>G (p.Leu116Val)
|
rs1554709252
|
|
NM_000155.4(GALT):c.371G>T (p.Gly124Val)
|
|
|
NM_000155.4(GALT):c.377+26A>G
|
|
|
NM_000155.4(GALT):c.377+7A>G
|
rs376026879
|
|
NM_000155.4(GALT):c.389G>A (p.Cys130Tyr)
|
rs367543255
|
|
NM_000155.4(GALT):c.394C>T (p.His132Tyr)
|
rs111033688
|
|
NM_000155.4(GALT):c.405G>A (p.Ser135=)
|
rs141232328
|
|
NM_000155.4(GALT):c.409G>A (p.Val137Ile)
|
rs1821146618
|
|
NM_000155.4(GALT):c.40G>A (p.Ala14Thr)
|
|
|
NM_000155.4(GALT):c.413C>G (p.Thr138Arg)
|
rs111033686
|
|
NM_000155.4(GALT):c.419C>T (p.Pro140Leu)
|
rs1821147228
|
|
NM_000155.4(GALT):c.430G>C (p.Val144Leu)
|
rs2132343177
|
|
NM_000155.4(GALT):c.450T>A (p.Val150=)
|
rs886063884
|
|
NM_000155.4(GALT):c.452T>C (p.Val151Ala)
|
rs111033701
|
|
NM_000155.4(GALT):c.457G>A (p.Ala153Thr)
|
|
|
NM_000155.4(GALT):c.499T>G (p.Trp167Gly)
|
rs111033708
|
|
NM_000155.4(GALT):c.502_504del (p.Val168del)
|
rs1219976432
|
|
NM_000155.4(GALT):c.507+5G>A
|
rs886043775
|
|
NM_000155.4(GALT):c.508-29del
|
rs111033711
|
|
NM_000155.4(GALT):c.527C>T (p.Ala176Val)
|
rs1554709329
|
|
NM_000155.4(GALT):c.529A>G (p.Met177Val)
|
|
|
NM_000155.4(GALT):c.542C>A (p.Ser181Tyr)
|
rs367543259
|
|
NM_000155.4(GALT):c.547C>A (p.Pro183Thr)
|
rs111033721
|
|
NM_000155.4(GALT):c.550C>T (p.His184Tyr)
|
rs111033716
|
|
NM_000155.4(GALT):c.552C>A (p.His184Gln)
|
rs111033717
|
|
NM_000155.4(GALT):c.554C>T (p.Pro185Leu)
|
rs111033722
|
|
NM_000155.4(GALT):c.560G>A (p.Cys187Tyr)
|
|
|
NM_000155.4(GALT):c.565-13T>A
|
rs2132344016
|
|
NM_000155.4(GALT):c.572C>A (p.Ala191Asp)
|
rs794727838
|
|
NM_000155.4(GALT):c.572C>T (p.Ala191Val)
|
rs794727838
|
|
NM_000155.4(GALT):c.584T>G (p.Leu195Arg)
|
rs111033728
|
|
NM_000155.4(GALT):c.630G>A (p.Lys210=)
|
rs367543260
|
|
NM_000155.4(GALT):c.652C>G (p.Leu218Val)
|
rs2070075
|
|
NM_000155.4(GALT):c.676C>G (p.Leu226Val)
|
rs111033751
|
|
NM_000155.4(GALT):c.687G>A (p.Lys229=)
|
rs111033753
|
|
NM_000155.4(GALT):c.697G>T (p.Val233Phe)
|
|
|
NM_000155.4(GALT):c.715T>C (p.Trp239Arg)
|
rs1336294207
|
|
NM_000155.4(GALT):c.727G>A (p.Val243Ile)
|
rs1403255940
|
|
NM_000155.4(GALT):c.745T>C (p.Trp249Arg)
|
rs111033757
|
|
NM_000155.4(GALT):c.748C>T (p.Pro250Ser)
|
|
|
NM_000155.4(GALT):c.752A>G (p.Tyr251Cys)
|
rs111033755
|
|
NM_000155.4(GALT):c.754C>A (p.Gln252Lys)
|
rs1564101859
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
NM_000155.4(GALT):c.779_790del (p.His260_Arg263del)
|
rs111033762
|
|
NM_000155.4(GALT):c.785GGC[3] (p.Arg263dup)
|
rs1554709431
|
|
NM_000155.4(GALT):c.793C>G (p.Pro265Ala)
|
rs111033764
|
|
NM_000155.4(GALT):c.797A>G (p.Glu266Gly)
|
rs1821178890
|
|
NM_000155.4(GALT):c.820+16A>C
|
rs1414791300
|
|
NM_000155.4(GALT):c.827C>G (p.Ala276Gly)
|
rs1564102003
|
|
NM_000155.4(GALT):c.82G>A (p.Asp28Asn)
|
rs111033636
|
|
NM_000155.4(GALT):c.844C>G (p.Leu282Val)
|
rs111033772
|
|
NM_000155.4(GALT):c.863A>G (p.Asn288Ser)
|
rs1821184031
|
|
NM_000155.4(GALT):c.885_886insATGGCGTCCTTTCCC (p.Pro295_Tyr296insMetAlaSerPhePro)
|
rs886043498
|
|
NM_000155.4(GALT):c.887A>G (p.Tyr296Cys)
|
rs775789069
|
|
NM_000155.4(GALT):c.904+7C>A
|
rs1564102104
|
|
NM_000155.4(GALT):c.91C>A (p.His31Asn)
|
rs111033643
|
|
NM_000155.4(GALT):c.931G>T (p.Ala311Ser)
|
|
|
NM_000155.4(GALT):c.936C>G (p.Asn312Lys)
|
rs771975129
|
|
NM_000155.4(GALT):c.950A>C (p.Gln317Pro)
|
|
|
NM_000155.4(GALT):c.970C>T (p.Pro324Ser)
|
rs111033798
|
|
NM_000155.4(GALT):c.976C>T (p.Leu326Phe)
|
rs1821199784
|
|
NM_000158.3(GBE1):c.-195G>T
|
rs886058904
|
|
NM_000158.4(GBE1):c.*12T>C
|
|
|
NM_000158.4(GBE1):c.*388T>A
|
rs1702416693
|
|
NM_000158.4(GBE1):c.*44T>A
|
rs1702420526
|
|
NM_000158.4(GBE1):c.*494A>C
|
rs145934828
|
|
NM_000158.4(GBE1):c.-4G>A
|
rs1283709127
|
|
NM_000158.4(GBE1):c.1027A>G (p.Arg343Gly)
|
|
|
NM_000158.4(GBE1):c.1031G>T (p.Trp344Leu)
|
rs773381709
|
|
NM_000158.4(GBE1):c.1048C>T (p.Arg350Cys)
|
|
|
NM_000158.4(GBE1):c.1070A>G (p.Asp357Gly)
|
rs1703917500
|
|
NM_000158.4(GBE1):c.107C>A (p.Pro36Gln)
|
|
|
NM_000158.4(GBE1):c.1088T>C (p.Leu363Pro)
|
rs965176553
|
|
NM_000158.4(GBE1):c.1109G>A (p.Gly370Asp)
|
|
|
NM_000158.4(GBE1):c.1112A>G (p.Gln371Arg)
|
|
|
NM_000158.4(GBE1):c.1144G>A (p.Gly382Arg)
|
|
|
NM_000158.4(GBE1):c.1148T>A (p.Leu383Gln)
|
rs777291512
|
|
NM_000158.4(GBE1):c.1148T>C (p.Leu383Pro)
|
|
|
NM_000158.4(GBE1):c.1183T>G (p.Leu395Val)
|
rs1269189934
|
|
NM_000158.4(GBE1):c.1202A>G (p.His401Arg)
|
|
|
NM_000158.4(GBE1):c.1216G>A (p.Asp406Asn)
|
rs1434653319
|
|
NM_000158.4(GBE1):c.1264T>A (p.Ser422Thr)
|
rs2106945255
|
|
NM_000158.4(GBE1):c.1283G>A (p.Gly428Glu)
|
|
|
NM_000158.4(GBE1):c.1285G>A (p.Gly429Ser)
|
|
|
NM_000158.4(GBE1):c.1309A>G (p.Met437Val)
|
rs1288041902
|
|
NM_000158.4(GBE1):c.1315A>G (p.Ile439Val)
|
rs1357214851
|
|
NM_000158.4(GBE1):c.1322A>G (p.Asp441Gly)
|
rs1703799830
|
|
NM_000158.4(GBE1):c.1335+3A>C
|
|
|
NM_000158.4(GBE1):c.1336-1G>A
|
rs375253942
|
|
NM_000158.4(GBE1):c.1368C>G (p.Asn456Lys)
|
rs2106938616
|
|
NM_000158.4(GBE1):c.1375G>A (p.Asp459Asn)
|
rs752100789
|
|
NM_000158.4(GBE1):c.1388C>T (p.Thr463Met)
|
|
|
NM_000158.4(GBE1):c.1402C>A (p.Arg468Ser)
|
rs776526697
|
|
NM_000158.4(GBE1):c.1403G>A (p.Arg468His)
|
|
|
NM_000158.4(GBE1):c.144-7T>C
|
rs886058902
|
|
NM_000158.4(GBE1):c.1454T>C (p.Val485Ala)
|
rs771241994
|
|
NM_000158.4(GBE1):c.1466C>T (p.Ser489Leu)
|
|
|
NM_000158.4(GBE1):c.146A>G (p.Tyr49Cys)
|
|
|
NM_000158.4(GBE1):c.1471G>A (p.Ala491Thr)
|
rs772670028
|
|
NM_000158.4(GBE1):c.1484T>C (p.Met495Thr)
|
rs1456579860
|
|
NM_000158.4(GBE1):c.1528A>T (p.Thr510Ser)
|
rs751466558
|
|
NM_000158.4(GBE1):c.1534G>C (p.Val512Leu)
|
|
|
NM_000158.4(GBE1):c.1563A>C (p.Lys521Asn)
|
|
|
NM_000158.4(GBE1):c.1570C>G (p.Arg524Gly)
|
rs137852888
|
|
NM_000158.4(GBE1):c.1592G>A (p.Gly531Asp)
|
rs2106933633
|
|
NM_000158.4(GBE1):c.159C>A (p.Ser53Arg)
|
|
|
NM_000158.4(GBE1):c.1601G>T (p.Gly534Val)
|
rs2106933621
|
|
NM_000158.4(GBE1):c.1615A>T (p.Met539Leu)
|
|
|
NM_000158.4(GBE1):c.1618+3_1618+6del
|
|
|
NM_000158.4(GBE1):c.1619-3C>T
|
|
|
NM_000158.4(GBE1):c.162A>C (p.Gln54His)
|
|
|
NM_000158.4(GBE1):c.1644G>C (p.Trp548Cys)
|
rs1703086549
|
|
NM_000158.4(GBE1):c.1656A>C (p.Pro552=)
|
rs1340229013
|
|
NM_000158.4(GBE1):c.1666A>G (p.Asn556Asp)
|
|
|
NM_000158.4(GBE1):c.1676G>T (p.Ser559Ile)
|
rs1703085718
|
|
NM_000158.4(GBE1):c.1706del (p.His568_Leu569insTer)
|
rs1367364158
|
|
NM_000158.4(GBE1):c.1712A>T (p.Asp571Val)
|
|
|
NM_000158.4(GBE1):c.1720C>T (p.Leu574Phe)
|
rs2106872197
|
|
NM_000158.4(GBE1):c.1727G>A (p.Arg576His)
|
|
|
NM_000158.4(GBE1):c.1757A>G (p.Asp586Gly)
|
|
|
NM_000158.4(GBE1):c.1759A>G (p.Met587Val)
|
|
|
NM_000158.4(GBE1):c.1771G>A (p.Glu591Lys)
|
|
|
NM_000158.4(GBE1):c.1788G>A (p.Trp596Ter)
|
rs201029706
|
|
NM_000158.4(GBE1):c.1803+5G>T
|
|
|
NM_000158.4(GBE1):c.1804-6T>G
|
rs753097564
|
|
NM_000158.4(GBE1):c.1814G>A (p.Ser605Asn)
|
|
|
NM_000158.4(GBE1):c.1831A>C (p.Asn611His)
|
rs2106869674
|
|
NM_000158.4(GBE1):c.1842T>A (p.Ile614=)
|
rs774354874
|
|
NM_000158.4(GBE1):c.1844C>A (p.Ala615Asp)
|
|
|
NM_000158.4(GBE1):c.1848T>G (p.Phe616Leu)
|
|
|
NM_000158.4(GBE1):c.1910G>A (p.Arg637Gln)
|
|
|
NM_000158.4(GBE1):c.193G>A (p.Gly65Ser)
|
|
|
NM_000158.4(GBE1):c.1970A>G (p.Tyr657Cys)
|
|
|
NM_000158.4(GBE1):c.19C>T (p.Pro7Ser)
|
rs1401990930
|
|
NM_000158.4(GBE1):c.1_18dup (p.Thr6_Pro7insMetAlaAlaProMetThr)
|
|
|
NM_000158.4(GBE1):c.2010T>G (p.Phe670Leu)
|
rs2106809858
|
|
NM_000158.4(GBE1):c.2067C>G (p.Ser689Arg)
|
|
|
NM_000158.4(GBE1):c.2095G>T (p.Asp699Tyr)
|
rs1337608522
|
|
NM_000158.4(GBE1):c.227T>C (p.Phe76Ser)
|
rs1267044758
|
|
NM_000158.4(GBE1):c.22G>A (p.Ala8Thr)
|
|
|
NM_000158.4(GBE1):c.22G>T (p.Ala8Ser)
|
rs1297879927
|
|
NM_000158.4(GBE1):c.232G>A (p.Val78Ile)
|
|
|
NM_000158.4(GBE1):c.259T>C (p.Tyr87His)
|
rs1705760813
|
|
NM_000158.4(GBE1):c.283G>A (p.Ala95Thr)
|
|
|
NM_000158.4(GBE1):c.289G>A (p.Gly97Arg)
|
|
|
NM_000158.4(GBE1):c.333G>A (p.Ser111=)
|
rs374518318
|
|
NM_000158.4(GBE1):c.343A>G (p.Lys115Glu)
|
rs1705180182
|
|
NM_000158.4(GBE1):c.3G>C (p.Met1Ile)
|
|
|
NM_000158.4(GBE1):c.406G>A (p.Val136Met)
|
|
|
NM_000158.4(GBE1):c.429G>T (p.Lys143Asn)
|
|
|
NM_000158.4(GBE1):c.451G>A (p.Gly151Arg)
|
|
|
NM_000158.4(GBE1):c.497G>A (p.Arg166His)
|
|
|
NM_000158.4(GBE1):c.521A>T (p.Asp174Val)
|
|
|
NM_000158.4(GBE1):c.526A>T (p.Ile176Leu)
|
|
|
NM_000158.4(GBE1):c.534G>C (p.Trp178Cys)
|
|
|
NM_000158.4(GBE1):c.56A>G (p.Asn19Ser)
|
|
|
NM_000158.4(GBE1):c.574A>C (p.Lys192Gln)
|
|
|
NM_000158.4(GBE1):c.599A>G (p.Tyr200Cys)
|
|
|
NM_000158.4(GBE1):c.610G>T (p.Val204Leu)
|
rs2107072252
|
|
NM_000158.4(GBE1):c.640G>T (p.Ala214Ser)
|
|
|
NM_000158.4(GBE1):c.647A>G (p.Tyr216Cys)
|
rs886058901
|
|
NM_000158.4(GBE1):c.665A>G (p.Asn222Ser)
|
rs1350258947
|
|
NM_000158.4(GBE1):c.697A>G (p.Asn233Asp)
|
|
|
NM_000158.4(GBE1):c.713T>C (p.Met238Thr)
|
|
|
NM_000158.4(GBE1):c.718A>G (p.Ile240Val)
|
rs868766244
|
|
NM_000158.4(GBE1):c.733T>C (p.Tyr245His)
|
rs2107066005
|
|
NM_000158.4(GBE1):c.748G>T (p.Gly250Cys)
|
|
|
NM_000158.4(GBE1):c.757A>G (p.Ile253Val)
|
rs2107065942
|
|
NM_000158.4(GBE1):c.776C>G (p.Ala259Gly)
|
rs1576183525
|
|
NM_000158.4(GBE1):c.791G>A (p.Gly264Glu)
|
rs754525424
|
|
NM_000158.4(GBE1):c.793A>G (p.Thr265Ala)
|
|
|
NM_000158.4(GBE1):c.808C>A (p.Gln270Lys)
|
|
|
NM_000158.4(GBE1):c.809A>T (p.Gln270Leu)
|
|
|
NM_000158.4(GBE1):c.826G>C (p.Ala276Pro)
|
rs2107059765
|
|
NM_000158.4(GBE1):c.841A>T (p.Ile281Phe)
|
rs2107059729
|
|
NM_000158.4(GBE1):c.905T>C (p.Met302Thr)
|
rs1189654498
|
|
NM_000158.4(GBE1):c.906G>A (p.Met302Ile)
|
rs1309818317
|
|
NM_000158.4(GBE1):c.919G>C (p.Asp307His)
|
|
|
NM_000158.4(GBE1):c.950G>A (p.Gly317Glu)
|
rs1253319926
|
|
NM_000158.4(GBE1):c.969T>C (p.Asp323=)
|
rs555689284
|
|
NM_000158.4(GBE1):c.981T>A (p.Phe327Leu)
|
|
|
NM_000158.4(GBE1):c.992+2T>G
|
rs772349876
|
|
NM_000158.4(GBE1):c.998A>G (p.Glu333Gly)
|
rs1553684545
|
|
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.-396C>G
|
rs2096324894
|
|
NM_000162.5(GCK):c.-429G>A
|
|
|
NM_000162.5(GCK):c.-456G>A
|
rs757266656
|
|
NM_000162.5(GCK):c.1019+16G>A
|
rs193922256
|
|
NM_000162.5(GCK):c.1019G>T (p.Ser340Ile)
|
rs1376631949
|
|
NM_000162.5(GCK):c.1020-10C>A
|
rs193922257
|
|
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro)
|
rs1000236360
|
|
NM_000162.5(GCK):c.1030G>T (p.Asp344Tyr)
|
rs864321656
|
|
NM_000162.5(GCK):c.1079C>T (p.Ser360Leu)
|
|
|
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn)
|
rs1064793134
|
|
NM_000162.5(GCK):c.1120G>T (p.Val374Leu)
|
rs1415041911
|
|
NM_000162.5(GCK):c.1129C>A (p.Arg377Ser)
|
|
|
NM_000162.5(GCK):c.1130G>A (p.Arg377His)
|
rs193922264
|
|
NM_000162.5(GCK):c.1133C>G (p.Ala378Gly)
|
rs193929374
|
|
NM_000162.5(GCK):c.1139A>C (p.His380Pro)
|
rs2128819280
|
|
NM_000162.5(GCK):c.1150G>A (p.Ala384Thr)
|
rs1376620210
|
|
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro)
|
rs193922268
|
|
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp)
|
rs2096271482
|
|
NM_000162.5(GCK):c.1207C>G (p.Arg403Gly)
|
rs193922271
|
|
NM_000162.5(GCK):c.1254-20_1312del
|
rs2096270578
|
|
NM_000162.5(GCK):c.1262A>G (p.Glu421Gly)
|
rs1257648811
|
|
NM_000162.5(GCK):c.1264C>T (p.Arg422Trp)
|
|
|
NM_000162.5(GCK):c.1270C>T (p.His424Tyr)
|
|
|
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln)
|
rs193922274
|
|
NM_000162.5(GCK):c.1280_1283dup (p.Arg429fs)
|
rs2096270699
|
|
NM_000162.5(GCK):c.1283_1284del (p.Arg428fs)
|
rs193922275
|
|
NM_000162.5(GCK):c.1284_1362del (p.Arg429fs)
|
rs2096270423
|
|
NM_000162.5(GCK):c.1288C>G (p.Leu430Val)
|
|
|
NM_000162.5(GCK):c.1310C>G (p.Thr437Ser)
|
rs1185622190
|
|
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile)
|
rs1185622190
|
|
NM_000162.5(GCK):c.1332del (p.Ser445fs)
|
rs193922280
|
|
NM_000162.5(GCK):c.1348G>T (p.Ala450Ser)
|
|
|
NM_000162.5(GCK):c.1350_1361del (p.Leu451_Ala454del)
|
rs1583590383
|
|
NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup)
|
rs1554334433
|
|
NM_000162.5(GCK):c.1360del (p.Ala454fs)
|
rs1583590393
|
|
NM_000162.5(GCK):c.1372_1373del (p.Lys458fs)
|
rs193922284
|
|
NM_000162.5(GCK):c.149A>T (p.His50Leu)
|
|
|
NM_000162.5(GCK):c.179C>T (p.Thr60Ile)
|
rs747783371
|
|
NM_000162.5(GCK):c.207A>G (p.Ser69=)
|
rs779548342
|
|
NM_000162.5(GCK):c.208+9T>A
|
rs193922288
|
|
NM_000162.5(GCK):c.232G>T (p.Asp78Tyr)
|
|
|
NM_000162.5(GCK):c.255G>T (p.Arg85Ser)
|
rs1554335758
|
|
NM_000162.5(GCK):c.278A>C (p.Glu93Ala)
|
|
|
NM_000162.5(GCK):c.295T>C (p.Trp99Arg)
|
rs1554335751
|
|
NM_000162.5(GCK):c.356C>G (p.Ala119Gly)
|
|
|
NM_000162.5(GCK):c.363+10G>C
|
rs758495950
|
|
NM_000162.5(GCK):c.364-41dup
|
rs193922293
|
|
NM_000162.5(GCK):c.364-49dup
|
rs193922294
|
|
NM_000162.5(GCK):c.374A>G (p.Tyr125Cys)
|
|
|
NM_000162.5(GCK):c.397T>G (p.Phe133Val)
|
|
|
NM_000162.5(GCK):c.45+3A>G
|
rs1554340088
|
|
NM_000162.5(GCK):c.458C>A (p.Pro153His)
|
|
|
NM_000162.5(GCK):c.463A>G (p.Arg155Gly)
|
rs193922301
|
|
NM_000162.5(GCK):c.478G>C (p.Asp160His)
|
|
|
NM_000162.5(GCK):c.484G>A (p.Gly162Ser)
|
|
|
NM_000162.5(GCK):c.524G>A (p.Gly175Glu)
|
|
|
NM_000162.5(GCK):c.524G>C (p.Gly175Ala)
|
rs2128821624
|
|
NM_000162.5(GCK):c.524G>T (p.Gly175Val)
|
|
|
NM_000162.5(GCK):c.529_530delinsTT (p.Glu177Leu)
|
rs2096278772
|
|
NM_000162.5(GCK):c.535A>G (p.Asn179Asp)
|
|
|
NM_000162.5(GCK):c.554T>G (p.Leu185Arg)
|
rs1583599749
|
|
NM_000162.5(GCK):c.577G>C (p.Gly193Arg)
|
rs376050856
|
|
NM_000162.5(GCK):c.579+4del
|
|
|
NM_000162.5(GCK):c.57C>A (p.Ile19=)
|
rs193922308
|
|
NM_000162.5(GCK):c.580-3C>A
|
|
|
NM_000162.5(GCK):c.580-3del
|
|
|
NM_000162.5(GCK):c.580-9T>G
|
|
|
NM_000162.5(GCK):c.601G>T (p.Ala201Ser)
|
rs794727775
|
|
NM_000162.5(GCK):c.604A>G (p.Met202Val)
|
rs193922310
|
|
NM_000162.5(GCK):c.630G>T (p.Met210Ile)
|
rs193922313
|
|
NM_000162.5(GCK):c.635_637del (p.Ser212del)
|
rs193922314
|
|
NM_000162.5(GCK):c.675C>G (p.Ile225Met)
|
rs772754004
|
|
NM_000162.5(GCK):c.675C>T (p.Ile225=)
|
rs772754004
|
|
NM_000162.5(GCK):c.680-14G>C
|
rs577968084
|
|
NM_000162.5(GCK):c.680-94dup
|
rs193922321
|
|
NM_000162.5(GCK):c.680G>A (p.Gly227Asp)
|
rs2128820681
|
|
NM_000162.5(GCK):c.682A>G (p.Thr228Ala)
|
rs1332966015
|
|
NM_000162.5(GCK):c.692A>T (p.Asn231Ile)
|
|
|
NM_000162.5(GCK):c.709G>A (p.Glu237Lys)
|
rs1176858193
|
|
NM_000162.5(GCK):c.730G>A (p.Val244Met)
|
rs1240035630
|
|
NM_000162.5(GCK):c.737G>C (p.Gly246Ala)
|
rs1583596522
|
|
NM_000162.5(GCK):c.748C>T (p.Arg250Cys)
|
rs1057524904
|
|
NM_000162.5(GCK):c.773G>A (p.Gly258Asp)
|
rs747662793
|
|
NM_000162.5(GCK):c.792C>A (p.Gly264=)
|
rs754094813
|
|
NM_000162.5(GCK):c.799G>C (p.Asp267His)
|
|
|
NM_000162.5(GCK):c.808CTG[1] (p.Leu271del)
|
rs2096275478
|
|
NM_000162.5(GCK):c.82G>A (p.Glu28Lys)
|
rs2128823215
|
|
NM_000162.5(GCK):c.835G>C (p.Glu279Gln)
|
rs104894005
|
|
NM_000162.5(GCK):c.863+3A>G
|
rs193922334
|
|
NM_000162.5(GCK):c.871A>C (p.Lys291Gln)
|
|
|
NM_000162.5(GCK):c.878T>C (p.Ile293Thr)
|
rs2128820046
|
|
NM_000162.5(GCK):c.917T>C (p.Leu306Pro)
|
rs193922337
|
|
NM_000162.5(GCK):c.941T>C (p.Leu314Pro)
|
rs1554334886
|
|
NM_000162.5(GCK):c.950A>C (p.His317Pro)
|
|
|
NM_000162.5(GCK):c.989T>C (p.Phe330Ser)
|
rs1554334872
|
|
NM_000162.5(GCK):c.98T>A (p.Val33Glu)
|
rs1554335954
|
|
NM_000175.5(GPI):c.1022A>G (p.Tyr341Cys)
|
|
|
NM_000175.5(GPI):c.1081G>A (p.Gly361Arg)
|
|
|
NM_000175.5(GPI):c.1238A>G (p.Gln413Arg)
|
|
|
NM_000175.5(GPI):c.1366C>G (p.Pro456Ala)
|
|
|
NM_000175.5(GPI):c.1594A>G (p.Ser532Gly)
|
|
|
NM_000175.5(GPI):c.1595G>C (p.Ser532Thr)
|
rs139035514
|
|
NM_000175.5(GPI):c.1614C>G (p.His538Gln)
|
rs537943038
|
|
NM_000175.5(GPI):c.1640A>G (p.Asn547Ser)
|
|
|
NM_000175.5(GPI):c.16C>T (p.Arg6Trp)
|
|
|
NM_000175.5(GPI):c.190G>A (p.Val64Met)
|
|
|
NM_000175.5(GPI):c.241C>T (p.Arg81Trp)
|
|
|
NM_000175.5(GPI):c.287G>A (p.Arg96Gln)
|
|
|
NM_000175.5(GPI):c.413G>A (p.Ser138Asn)
|
|
|
NM_000175.5(GPI):c.418G>A (p.Asp140Asn)
|
|
|
NM_000175.5(GPI):c.637T>A (p.Phe213Ile)
|
rs2145365520
|
|
NM_000175.5(GPI):c.695C>T (p.Ala232Val)
|
|
|
NM_000175.5(GPI):c.719C>T (p.Ala240Val)
|
|
|
NM_000175.5(GPI):c.805T>C (p.Trp269Arg)
|
|
|
NM_000175.5(GPI):c.833C>T (p.Ser278Leu)
|
|
|
NM_000175.5(GPI):c.851T>C (p.Ile284Thr)
|
|
|
NM_000175.5(GPI):c.885G>T (p.Gln295His)
|
|
|
NM_000175.5(GPI):c.892T>G (p.Ser298Ala)
|
|
|
NM_000175.5(GPI):c.91G>C (p.Asp31His)
|
|
|
NM_000175.5(GPI):c.926C>T (p.Thr309Met)
|
|
|
NM_000181.4(GUSB):c.*12A>G
|
rs769514976
|
|
NM_000181.4(GUSB):c.*148A>G
|
rs568655640
|
|
NM_000181.4(GUSB):c.*154G>A
|
rs1790427973
|
|
NM_000181.4(GUSB):c.*208T>C
|
rs190201470
|
|
NM_000181.4(GUSB):c.*208T>G
|
rs190201470
|
|
NM_000181.4(GUSB):c.1046A>G (p.Asn349Ser)
|
|
|
NM_000181.4(GUSB):c.10G>A (p.Gly4Arg)
|
|
|
NM_000181.4(GUSB):c.112T>C (p.Cys38Arg)
|
|
|
NM_000181.4(GUSB):c.1135A>T (p.Asn379Tyr)
|
rs1207640167
|
|
NM_000181.4(GUSB):c.1136A>G (p.Asn379Ser)
|
rs1289930946
|
|
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)
|
|
|
NM_000181.4(GUSB):c.11G>C (p.Gly4Ala)
|
rs1355624664
|
|
NM_000181.4(GUSB):c.1232G>A (p.Gly411Asp)
|
|
|
NM_000181.4(GUSB):c.1245-4G>T
|
rs548368848
|
|
NM_000181.4(GUSB):c.1273C>A (p.His425Asn)
|
|
|
NM_000181.4(GUSB):c.1285G>A (p.Val429Met)
|
|
|
NM_000181.4(GUSB):c.1285G>T (p.Val429Leu)
|
|
|
NM_000181.4(GUSB):c.1288A>C (p.Met430Leu)
|
rs768428238
|
|
NM_000181.4(GUSB):c.1300G>A (p.Val434Met)
|
|
|
NM_000181.4(GUSB):c.1330G>A (p.Val444Met)
|
|
|
NM_000181.4(GUSB):c.1349A>G (p.Asn450Ser)
|
rs2115949680
|
|
NM_000181.4(GUSB):c.1358C>T (p.Ala453Val)
|
rs912985278
|
|
NM_000181.4(GUSB):c.1382A>T (p.Tyr461Phe)
|
|
|
NM_000181.4(GUSB):c.1391+5G>A
|
|
|
NM_000181.4(GUSB):c.1412A>C (p.Lys471Thr)
|
rs1302470051
|
|
NM_000181.4(GUSB):c.1415C>A (p.Ser472Tyr)
|
|
|
NM_000181.4(GUSB):c.1421A>G (p.Asp474Gly)
|
|
|
NM_000181.4(GUSB):c.1423C>A (p.Pro475Thr)
|
|
|
NM_000181.4(GUSB):c.1430G>A (p.Arg477Gln)
|
|
|
NM_000181.4(GUSB):c.1468G>A (p.Asp490Asn)
|
|
|
NM_000181.4(GUSB):c.1476+3G>A
|
rs886042522
|
|
NM_000181.4(GUSB):c.1484A>G (p.Tyr495Cys)
|
rs121918178
|
|
NM_000181.4(GUSB):c.14C>T (p.Ser5Leu)
|
|
|
NM_000181.4(GUSB):c.1506C>A (p.Asn502Lys)
|
rs1159683641
|
|
NM_000181.4(GUSB):c.1527C>A (p.His509Gln)
|
|
|
NM_000181.4(GUSB):c.1574T>C (p.Phe525Ser)
|
|
|
NM_000181.4(GUSB):c.1614G>C (p.Gln538His)
|
|
|
NM_000181.4(GUSB):c.1654-3T>C
|
|
|
NM_000181.4(GUSB):c.1654-7A>G
|
|
|
NM_000181.4(GUSB):c.169C>G (p.Arg57Gly)
|
rs772676579
|
|
NM_000181.4(GUSB):c.1703A>G (p.Gln568Arg)
|
|
|
NM_000181.4(GUSB):c.1729C>T (p.Arg577Cys)
|
|
|
NM_000181.4(GUSB):c.1742T>C (p.Val581Ala)
|
|
|
NM_000181.4(GUSB):c.1790-18dup
|
rs750022485
|
|
NM_000181.4(GUSB):c.1792C>G (p.Pro598Ala)
|
|
|
NM_000181.4(GUSB):c.17C>A (p.Ala6Glu)
|
|
|
NM_000181.4(GUSB):c.1820G>C (p.Gly607Ala)
|
|
|
NM_000181.4(GUSB):c.1829C>T (p.Thr610Ile)
|
|
|
NM_000181.4(GUSB):c.1834del (p.Gln612fs)
|
rs1085307069
|
|
NM_000181.4(GUSB):c.185A>C (p.Gln62Pro)
|
|
|
NM_000181.4(GUSB):c.185A>G (p.Gln62Arg)
|
rs571736757
|
|
NM_000181.4(GUSB):c.1877A>G (p.Tyr626Cys)
|
|
|
NM_000181.4(GUSB):c.1883A>C (p.Lys628Thr)
|
|
|
NM_000181.4(GUSB):c.1886T>C (p.Ile629Thr)
|
|
|
NM_000181.4(GUSB):c.1912T>C (p.Ser638Pro)
|
rs1790444883
|
|
NM_000181.4(GUSB):c.1916_1918dup (p.Val639dup)
|
rs770237165
|
|
NM_000181.4(GUSB):c.1927C>T (p.Gln643Ter)
|
|
|
NM_000181.4(GUSB):c.210+5G>A
|
|
|
NM_000181.4(GUSB):c.210+5G>C
|
|
|
NM_000181.4(GUSB):c.229A>G (p.Met77Val)
|
|
|
NM_000181.4(GUSB):c.22G>T (p.Ala8Ser)
|
rs376505707
|
|
NM_000181.4(GUSB):c.230T>G (p.Met77Arg)
|
rs751845855
|
|
NM_000181.4(GUSB):c.238C>G (p.Pro80Ala)
|
|
|
NM_000181.4(GUSB):c.245G>A (p.Ser82Asn)
|
|
|
NM_000181.4(GUSB):c.251A>G (p.Asn84Ser)
|
|
|
NM_000181.4(GUSB):c.338A>G (p.Gln113Arg)
|
rs1791915416
|
|
NM_000181.4(GUSB):c.366G>C (p.Arg122Ser)
|
rs1583946993
|
|
NM_000181.4(GUSB):c.373A>C (p.Ser125Arg)
|
rs2116040590
|
|
NM_000181.4(GUSB):c.380A>G (p.His127Arg)
|
rs765699404
|
|
NM_000181.4(GUSB):c.383C>T (p.Ser128Phe)
|
|
|
NM_000181.4(GUSB):c.388G>A (p.Ala130Thr)
|
|
|
NM_000181.4(GUSB):c.38G>A (p.Gly13Glu)
|
rs1237078772
|
|
NM_000181.4(GUSB):c.429G>T (p.Glu143Asp)
|
|
|
NM_000181.4(GUSB):c.430G>T (p.Gly144Trp)
|
|
|
NM_000181.4(GUSB):c.450G>C (p.Glu150Asp)
|
rs764486500
|
|
NM_000181.4(GUSB):c.45G>A (p.Leu15=)
|
rs886062404
|
|
NM_000181.4(GUSB):c.464_475del (p.Asn155_Val159delinsMet)
|
|
|
NM_000181.4(GUSB):c.465C>G (p.Asn155Lys)
|
|
|
NM_000181.4(GUSB):c.531C>A (p.Thr177=)
|
rs1392513223
|
|
NM_000181.4(GUSB):c.532C>T (p.Pro178Ser)
|
rs11559281
|
|
NM_000181.4(GUSB):c.536C>T (p.Thr179Ile)
|
rs1427132394
|
|
NM_000181.4(GUSB):c.556A>C (p.Ile186Leu)
|
|
|
NM_000181.4(GUSB):c.581+9C>T
|
|
|
NM_000181.4(GUSB):c.582-3T>G
|
|
|
NM_000181.4(GUSB):c.614A>G (p.Tyr205Cys)
|
rs2116029247
|
|
NM_000181.4(GUSB):c.694A>G (p.Thr232Ala)
|
rs1332406445
|
|
NM_000181.4(GUSB):c.695C>T (p.Thr232Ile)
|
|
|
NM_000181.4(GUSB):c.781C>G (p.Arg261Gly)
|
|
|
NM_000181.4(GUSB):c.805G>C (p.Val269Leu)
|
rs755211573
|
|
NM_000181.4(GUSB):c.808G>A (p.Val270Met)
|
|
|
NM_000181.4(GUSB):c.812C>A (p.Ala271Glu)
|
|
|
NM_000181.4(GUSB):c.812C>T (p.Ala271Val)
|
|
|
NM_000181.4(GUSB):c.875T>C (p.Leu292Pro)
|
|
|
NM_000181.4(GUSB):c.883G>A (p.Glu295Lys)
|
|
|
NM_000181.4(GUSB):c.896A>G (p.Tyr299Cys)
|
rs1271320539
|
|
NM_000181.4(GUSB):c.953A>G (p.Asp318Gly)
|
|
|
NM_000181.4(GUSB):c.970G>A (p.Val324Met)
|
|
|
NM_000181.4(GUSB):c.979C>T (p.Arg327Cys)
|
|
|
NM_000181.4(GUSB):c.980G>T (p.Arg327Leu)
|
rs1583924426
|
|
NM_000188.3(HK1):c.1871dup (p.Ala625fs)
|
rs754451671
|
|
NM_000199.5(SGSH):c.*1008C>T
|
rs886053553
|
|
NM_000199.5(SGSH):c.*1078A>G
|
rs886053552
|
|
NM_000199.5(SGSH):c.*452G>A
|
rs886053556
|
|
NM_000199.5(SGSH):c.*69C>T
|
rs576879796
|
|
NM_000199.5(SGSH):c.*712G>T
|
rs1360057013
|
|
NM_000199.5(SGSH):c.*891A>G
|
rs903251344
|
|
NM_000199.5(SGSH):c.*95A>T
|
rs2041585066
|
|
NM_000199.5(SGSH):c.*978C>T
|
rs886053554
|
|
NM_000199.5(SGSH):c.-12G>A
|
rs1598772757
|
|
NM_000199.5(SGSH):c.-12GCC[5] (p.Met1_Ser2insAla)
|
rs1555624208
|
|
NM_000199.5(SGSH):c.1004T>C (p.Ile335Thr)
|
|
|
NM_000199.5(SGSH):c.1013C>T (p.Ser338Leu)
|
|
|
NM_000199.5(SGSH):c.1015A>G (p.Lys339Glu)
|
|
|
NM_000199.5(SGSH):c.1024C>G (p.His342Asp)
|
|
|
NM_000199.5(SGSH):c.1027C>T (p.Leu343Phe)
|
|
|
NM_000199.5(SGSH):c.1043T>C (p.Leu348Pro)
|
rs886321925
|
|
NM_000199.5(SGSH):c.1045_1071del (p.Leu349_Leu357del)
|
rs1555620306
|
|
NM_000199.5(SGSH):c.1066C>A (p.Pro356Thr)
|
|
|
NM_000199.5(SGSH):c.1073G>T (p.Trp358Leu)
|
|
|
NM_000199.5(SGSH):c.1079C>A (p.Thr360Asn)
|
|
|
NM_000199.5(SGSH):c.1084T>G (p.Phe362Val)
|
rs1555620294
|
|
NM_000199.5(SGSH):c.1090A>G (p.Ser364Gly)
|
rs2144696405
|
|
NM_000199.5(SGSH):c.1092C>A (p.Ser364Arg)
|
rs1428699412
|
|
NM_000199.5(SGSH):c.111T>A (p.Ser37Arg)
|
rs1434209913
|
|
NM_000199.5(SGSH):c.1127T>C (p.Met376Thr)
|
rs775729169
|
|
NM_000199.5(SGSH):c.1130G>T (p.Arg377Leu)
|
rs746037899
|
|
NM_000199.5(SGSH):c.1144C>T (p.Arg382Trp)
|
|
|
NM_000199.5(SGSH):c.1153C>T (p.Arg385Cys)
|
|
|
NM_000199.5(SGSH):c.1159G>C (p.Val387Leu)
|
|
|
NM_000199.5(SGSH):c.1159G>T (p.Val387Leu)
|
rs62620232
|
|
NM_000199.5(SGSH):c.1162C>T (p.His388Tyr)
|
|
|
NM_000199.5(SGSH):c.116C>T (p.Ala39Val)
|
|
|
NM_000199.5(SGSH):c.1172A>G (p.Asn391Ser)
|
rs2041614381
|
|
NM_000199.5(SGSH):c.1173_1178del (p.Asn391_Phe392del)
|
rs2041613993
|
|
NM_000199.5(SGSH):c.1183C>T (p.Pro395Ser)
|
|
|
NM_000199.5(SGSH):c.1195G>A (p.Asp399Asn)
|
rs1064794815
|
|
NM_000199.5(SGSH):c.119A>C (p.Tyr40Ser)
|
rs1555623007
|
|
NM_000199.5(SGSH):c.119ACA[2] (p.Asn42del)
|
|
|
NM_000199.5(SGSH):c.11C>T (p.Pro4Leu)
|
|
|
NM_000199.5(SGSH):c.1208A>G (p.Tyr403Cys)
|
|
|
NM_000199.5(SGSH):c.123C>A (p.Asn41Lys)
|
rs1230391147
|
|
NM_000199.5(SGSH):c.1240C>G (p.Arg414Gly)
|
|
|
NM_000199.5(SGSH):c.1241G>T (p.Arg414Leu)
|
|
|
NM_000199.5(SGSH):c.1241_1244dup (p.Thr416fs)
|
rs1412408576
|
|
NM_000199.5(SGSH):c.1253G>C (p.Gly418Ala)
|
|
|
NM_000199.5(SGSH):c.1268G>C (p.Trp423Ser)
|
rs886053559
|
|
NM_000199.5(SGSH):c.1280_1285del (p.Leu427_Arg428del)
|
rs2144692301
|
|
NM_000199.5(SGSH):c.1282C>T (p.Arg428Cys)
|
|
|
NM_000199.5(SGSH):c.1286A>T (p.His429Leu)
|
|
|
NM_000199.5(SGSH):c.1287_1289del (p.Tyr432del)
|
rs1555620148
|
|
NM_000199.5(SGSH):c.1295_1303del (p.Tyr432_Arg435delinsCys)
|
rs1567914835
|
|
NM_000199.5(SGSH):c.1304G>T (p.Arg435Leu)
|
rs370528435
|
|
NM_000199.5(SGSH):c.1316A>G (p.Tyr439Cys)
|
rs900198526
|
|
NM_000199.5(SGSH):c.1318G>A (p.Asp440Asn)
|
rs886053558
|
|
NM_000199.5(SGSH):c.1320C>A (p.Asp440Glu)
|
|
|
NM_000199.5(SGSH):c.1327C>T (p.Arg443Trp)
|
|
|
NM_000199.5(SGSH):c.1338C>G (p.His446Gln)
|
rs762208419
|
|
NM_000199.5(SGSH):c.1343C>T (p.Thr448Ile)
|
rs980620540
|
|
NM_000199.5(SGSH):c.1366C>T (p.Arg456Cys)
|
|
|
NM_000199.5(SGSH):c.1380del (p.Leu461fs)
|
rs1555620092
|
|
NM_000199.5(SGSH):c.1394G>A (p.Arg465Gln)
|
|
|
NM_000199.5(SGSH):c.1403T>C (p.Leu468Pro)
|
rs2041599125
|
|
NM_000199.5(SGSH):c.140C>T (p.Thr47Ile)
|
|
|
NM_000199.5(SGSH):c.1416G>C (p.Gln472His)
|
rs1555620072
|
|
NM_000199.5(SGSH):c.1424C>G (p.Thr475Ser)
|
rs2144689101
|
|
NM_000199.5(SGSH):c.1438G>T (p.Val480Leu)
|
rs1474556145
|
|
NM_000199.5(SGSH):c.143C>T (p.Pro48Leu)
|
|
|
NM_000199.5(SGSH):c.1444G>T (p.Ala482Ser)
|
rs780969693
|
|
NM_000199.5(SGSH):c.1445_1446insT (p.Asp484fs)
|
rs1555620043
|
|
NM_000199.5(SGSH):c.1450G>A (p.Asp484Asn)
|
|
|
NM_000199.5(SGSH):c.1456G>C (p.Val486Leu)
|
rs764585957
|
|
NM_000199.5(SGSH):c.1462GAG[1] (p.Glu489del)
|
rs1252944094
|
|
NM_000199.5(SGSH):c.146A>G (p.His49Arg)
|
rs1598757846
|
|
NM_000199.5(SGSH):c.1474T>C (p.Ser492Pro)
|
|
|
NM_000199.5(SGSH):c.1481A>G (p.Gln494Arg)
|
rs562445330
|
|
NM_000199.5(SGSH):c.1486C>T (p.Gln496Ter)
|
rs1232231848
|
|
NM_000199.5(SGSH):c.1490C>T (p.Pro497Leu)
|
rs1281022554
|
|
NM_000199.5(SGSH):c.1499A>G (p.Asn500Ser)
|
rs779856036
|
|
NM_000199.5(SGSH):c.151G>A (p.Asp51Asn)
|
rs2144782205
|
|
NM_000199.5(SGSH):c.164G>A (p.Arg55His)
|
|
|
NM_000199.5(SGSH):c.169A>G (p.Ser57Gly)
|
|
|
NM_000199.5(SGSH):c.171C>G (p.Ser57Arg)
|
rs1131691434
|
|
NM_000199.5(SGSH):c.175C>T (p.Leu59Phe)
|
rs1555622928
|
|
NM_000199.5(SGSH):c.182G>A (p.Arg61His)
|
|
|
NM_000199.5(SGSH):c.182G>T (p.Arg61Leu)
|
|
|
NM_000199.5(SGSH):c.184A>G (p.Asn62Asp)
|
|
|
NM_000199.5(SGSH):c.185A>G (p.Asn62Ser)
|
rs1396883948
|
|
NM_000199.5(SGSH):c.188C>T (p.Ala63Val)
|
rs985515930
|
|
NM_000199.5(SGSH):c.205A>G (p.Ser69Gly)
|
|
|
NM_000199.5(SGSH):c.211T>C (p.Ser71Pro)
|
rs398123245
|
|
NM_000199.5(SGSH):c.223G>T (p.Ala75Ser)
|
|
|
NM_000199.5(SGSH):c.232C>T (p.Leu78Phe)
|
|
|
NM_000199.5(SGSH):c.23G>A (p.Cys8Tyr)
|
rs2144833092
|
|
NM_000199.5(SGSH):c.244C>A (p.Pro82Thr)
|
rs1385318543
|
|
NM_000199.5(SGSH):c.244C>T (p.Pro82Ser)
|
rs1385318543
|
|
NM_000199.5(SGSH):c.251A>G (p.His84Arg)
|
rs2144755254
|
|
NM_000199.5(SGSH):c.272T>C (p.Leu91Pro)
|
rs2144755037
|
|
NM_000199.5(SGSH):c.278A>G (p.Gln93Arg)
|
rs2041839563
|
|
NM_000199.5(SGSH):c.288C>A (p.His96Gln)
|
|
|
NM_000199.5(SGSH):c.299C>A (p.Ser100Tyr)
|
|
|
NM_000199.5(SGSH):c.299C>T (p.Ser100Phe)
|
rs2144754691
|
|
NM_000199.5(SGSH):c.304G>A (p.Asp102Asn)
|
|
|
NM_000199.5(SGSH):c.308A>G (p.Lys103Arg)
|
|
|
NM_000199.5(SGSH):c.313C>T (p.Arg105Trp)
|
|
|
NM_000199.5(SGSH):c.323C>T (p.Pro108Leu)
|
|
|
NM_000199.5(SGSH):c.323_331del (p.Pro108_Leu110del)
|
|
|
NM_000199.5(SGSH):c.335G>C (p.Ser112Thr)
|
rs773947080
|
|
NM_000199.5(SGSH):c.344G>C (p.Gly115Ala)
|
rs770321343
|
|
NM_000199.5(SGSH):c.344G>T (p.Gly115Val)
|
|
|
NM_000199.5(SGSH):c.350G>A (p.Arg117His)
|
|
|
NM_000199.5(SGSH):c.356-3C>G
|
rs1361176382
|
|
NM_000199.5(SGSH):c.359_360delinsAT (p.Ile120Asn)
|
|
|
NM_000199.5(SGSH):c.35T>G (p.Leu12Arg)
|
|
|
NM_000199.5(SGSH):c.367AAG[1] (p.Lys124del)
|
rs1555621974
|
|
NM_000199.5(SGSH):c.376G>A (p.Val126Met)
|
rs775553760
|
|
NM_000199.5(SGSH):c.376G>C (p.Val126Leu)
|
rs775553760
|
|
NM_000199.5(SGSH):c.380G>A (p.Gly127Glu)
|
|
|
NM_000199.5(SGSH):c.385G>C (p.Glu129Gln)
|
|
|
NM_000199.5(SGSH):c.389C>T (p.Thr130Ile)
|
|
|
NM_000199.5(SGSH):c.38T>C (p.Leu13Pro)
|
|
|
NM_000199.5(SGSH):c.398C>T (p.Pro133Leu)
|
rs781743238
|
|
NM_000199.5(SGSH):c.406T>A (p.Phe136Ile)
|
|
|
NM_000199.5(SGSH):c.415A>T (p.Thr139Ser)
|
rs760564328
|
|
NM_000199.5(SGSH):c.430T>A (p.Ser144Thr)
|
|
|
NM_000199.5(SGSH):c.433G>A (p.Val145Ile)
|
|
|
NM_000199.5(SGSH):c.437T>C (p.Leu146Pro)
|
rs749358773
|
|
NM_000199.5(SGSH):c.475G>A (p.Val159Ile)
|
|
|
NM_000199.5(SGSH):c.479G>A (p.Arg160Gln)
|
|
|
NM_000199.5(SGSH):c.479G>T (p.Arg160Leu)
|
|
|
NM_000199.5(SGSH):c.483A>G (p.Lys161=)
|
rs2144748407
|
|
NM_000199.5(SGSH):c.48_50dup (p.Leu17dup)
|
rs1555624091
|
|
NM_000199.5(SGSH):c.506+13G>T
|
rs201177560
|
|
NM_000199.5(SGSH):c.506+3A>G
|
rs1460108613
|
|
NM_000199.5(SGSH):c.508C>G (p.Pro170Ala)
|
|
|
NM_000199.5(SGSH):c.526G>A (p.Ala176Thr)
|
|
|
NM_000199.5(SGSH):c.527C>G (p.Ala176Gly)
|
rs760996554
|
|
NM_000199.5(SGSH):c.52T>G (p.Cys18Gly)
|
rs1171316652
|
|
NM_000199.5(SGSH):c.532C>G (p.His178Asp)
|
rs1598748596
|
|
NM_000199.5(SGSH):c.535G>A (p.Asp179Asn)
|
|
|
NM_000199.5(SGSH):c.542A>G (p.His181Arg)
|
rs776228545
|
|
NM_000199.5(SGSH):c.563C>T (p.Pro188Leu)
|
|
|
NM_000199.5(SGSH):c.580T>C (p.Cys194Arg)
|
|
|
NM_000199.5(SGSH):c.58G>C (p.Ala20Pro)
|
|
|
NM_000199.5(SGSH):c.607G>A (p.Gly203Ser)
|
|
|
NM_000199.5(SGSH):c.617G>A (p.Arg206His)
|
|
|
NM_000199.5(SGSH):c.61C>A (p.Arg21Ser)
|
|
|
NM_000199.5(SGSH):c.622C>T (p.Pro208Ser)
|
|
|
NM_000199.5(SGSH):c.628T>C (p.Trp210Arg)
|
rs1268158872
|
|
NM_000199.5(SGSH):c.632C>T (p.Thr211Ile)
|
|
|
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys)
|
rs200644359
|
|
NM_000199.5(SGSH):c.637C>G (p.Gln213Glu)
|
|
|
NM_000199.5(SGSH):c.643T>C (p.Tyr215His)
|
|
|
NM_000199.5(SGSH):c.658G>A (p.Val220Met)
|
rs150508741
|
|
NM_000199.5(SGSH):c.658G>C (p.Val220Leu)
|
rs150508741
|
|
NM_000199.5(SGSH):c.658G>T (p.Val220Leu)
|
rs150508741
|
|
NM_000199.5(SGSH):c.659T>G (p.Val220Gly)
|
rs2144741986
|
|
NM_000199.5(SGSH):c.663+3A>G
|
rs2144741879
|
|
NM_000199.5(SGSH):c.663+3dup
|
|
|
NM_000199.5(SGSH):c.675C>G (p.Phe225Leu)
|
rs34520362
|
|
NM_000199.5(SGSH):c.67C>G (p.Arg23Gly)
|
|
|
NM_000199.5(SGSH):c.697C>G (p.Arg233Gly)
|
rs374621913
|
|
NM_000199.5(SGSH):c.712G>A (p.Ala238Thr)
|
|
|
NM_000199.5(SGSH):c.718T>A (p.Tyr240Asn)
|
rs886053560
|
|
NM_000199.5(SGSH):c.721A>G (p.Thr241Ala)
|
|
|
NM_000199.5(SGSH):c.722C>T (p.Thr241Ile)
|
rs774439487
|
|
NM_000199.5(SGSH):c.726C>T (p.Thr242=)
|
rs1347877363
|
|
NM_000199.5(SGSH):c.734G>T (p.Arg245Leu)
|
rs104894635
|
|
NM_000199.5(SGSH):c.736A>G (p.Met246Val)
|
|
|
NM_000199.5(SGSH):c.745G>A (p.Gly249Arg)
|
|
|
NM_000199.5(SGSH):c.746-5_746-4inv
|
|
|
NM_000199.5(SGSH):c.746-6C>G
|
|
|
NM_000199.5(SGSH):c.748G>T (p.Val250Phe)
|
rs1481986186
|
|
NM_000199.5(SGSH):c.749T>A (p.Val250Asp)
|
rs765180942
|
|
NM_000199.5(SGSH):c.751G>A (p.Gly251Arg)
|
|
|
NM_000199.5(SGSH):c.772C>G (p.Arg258Gly)
|
rs1314742501
|
|
NM_000199.5(SGSH):c.772C>T (p.Arg258Cys)
|
|
|
NM_000199.5(SGSH):c.778G>A (p.Ala260Thr)
|
|
|
NM_000199.5(SGSH):c.784G>A (p.Val262Ile)
|
|
|
NM_000199.5(SGSH):c.793G>A (p.Asp265Asn)
|
rs1350874932
|
|
NM_000199.5(SGSH):c.803T>C (p.Val268Ala)
|
|
|
NM_000199.5(SGSH):c.821A>G (p.Asn274Ser)
|
rs2144716819
|
|
NM_000199.5(SGSH):c.823G>A (p.Gly275Arg)
|
rs765361603
|
|
NM_000199.5(SGSH):c.828C>G (p.Ile276Met)
|
rs2041694208
|
|
NM_000199.5(SGSH):c.841G>A (p.Gly281Ser)
|
|
|
NM_000199.5(SGSH):c.841G>T (p.Gly281Cys)
|
rs541222703
|
|
NM_000199.5(SGSH):c.863C>T (p.Pro288Leu)
|
|
|
NM_000199.5(SGSH):c.87C>A (p.Leu29=)
|
|
|
NM_000199.5(SGSH):c.88+5G>C
|
rs2144831735
|
|
NM_000199.5(SGSH):c.88G>A (p.Ala30Thr)
|
|
|
NM_000199.5(SGSH):c.88G>T (p.Ala30Ser)
|
|
|
NM_000199.5(SGSH):c.89-18_89-15del
|
rs768357480
|
|
NM_000199.5(SGSH):c.899A>C (p.Glu300Ala)
|
|
|
NM_000199.5(SGSH):c.90G>A (p.Ala30=)
|
|
|
NM_000199.5(SGSH):c.910C>T (p.Arg304Cys)
|
|
|
NM_000199.5(SGSH):c.911G>A (p.Arg304His)
|
|
|
NM_000199.5(SGSH):c.911G>C (p.Arg304Pro)
|
|
|
NM_000199.5(SGSH):c.916G>T (p.Gly306Cys)
|
rs1598742412
|
|
NM_000199.5(SGSH):c.927C>G (p.Ser309Arg)
|
rs1385473515
|
|
NM_000199.5(SGSH):c.928G>A (p.Glu310Lys)
|
|
|
NM_000199.5(SGSH):c.932C>A (p.Ala311Asp)
|
rs753934983
|
|
NM_000199.5(SGSH):c.935A>G (p.Tyr312Cys)
|
|
|
NM_000199.5(SGSH):c.935A>T (p.Tyr312Phe)
|
|
|
NM_000199.5(SGSH):c.937G>C (p.Val313Leu)
|
rs769385447
|
|
NM_000199.5(SGSH):c.937_939dup (p.Val313dup)
|
rs1555620723
|
|
NM_000199.5(SGSH):c.941G>A (p.Ser314Asn)
|
|
|
NM_000199.5(SGSH):c.949+4_949+5insA
|
|
|
NM_000199.5(SGSH):c.952C>A (p.Leu318Ile)
|
rs747197522
|
|
NM_000199.5(SGSH):c.952C>T (p.Leu318Phe)
|
|
|
NM_000199.5(SGSH):c.956C>T (p.Thr319Met)
|
|
|
NM_000199.5(SGSH):c.961A>G (p.Thr321Ala)
|
rs758756630
|
|
NM_000199.5(SGSH):c.962C>T (p.Thr321Ile)
|
rs2144699541
|
|
NM_000199.5(SGSH):c.96C>A (p.Asp32Glu)
|
rs139850991
|
|
NM_000199.5(SGSH):c.980C>T (p.Ser327Leu)
|
|
|
NM_000199.5(SGSH):c.981G>A (p.Ser327=)
|
rs143223388
|
|
NM_000202.8(IDS):c.1018G>A (p.Gly340Ser)
|
|
|
NM_000202.8(IDS):c.101C>A (p.Thr34Lys)
|
|
|
NM_000202.8(IDS):c.1057G>T (p.Val353Phe)
|
|
|
NM_000202.8(IDS):c.106G>A (p.Ala36Thr)
|
|
|
NM_000202.8(IDS):c.1072C>A (p.Pro358Thr)
|
|
|
NM_000202.8(IDS):c.1090C>G (p.Pro364Ala)
|
|
|
NM_000202.8(IDS):c.1090C>T (p.Pro364Ser)
|
rs2124005937
|
|
NM_000202.8(IDS):c.1121G>T (p.Gly374Val)
|
rs2124005760
|
|
NM_000202.8(IDS):c.1147C>A (p.Pro383Thr)
|
rs2089341258
|
|
NM_000202.8(IDS):c.116T>A (p.Val39Asp)
|
|
|
NM_000202.8(IDS):c.1177C>G (p.Pro393Ala)
|
|
|
NM_000202.8(IDS):c.1199T>C (p.Leu400Pro)
|
|
|
NM_000202.8(IDS):c.119T>C (p.Leu40Pro)
|
|
|
NM_000202.8(IDS):c.1207C>G (p.Leu403Val)
|
|
|
NM_000202.8(IDS):c.1214C>T (p.Ser405Phe)
|
|
|
NM_000202.8(IDS):c.121_123del (p.Leu41del)
|
rs2124066296
|
|
NM_000202.8(IDS):c.124A>G (p.Ile42Val)
|
rs2089505177
|
|
NM_000202.8(IDS):c.1253T>C (p.Val418Ala)
|
|
|
NM_000202.8(IDS):c.1255C>A (p.Pro419Thr)
|
|
|
NM_000202.8(IDS):c.1264T>C (p.Cys422Arg)
|
rs199422229
|
|
NM_000202.8(IDS):c.1295G>T (p.Cys432Phe)
|
|
|
NM_000202.8(IDS):c.1297A>G (p.Arg433Gly)
|
rs2089307094
|
|
NM_000202.8(IDS):c.1303G>T (p.Gly435Cys)
|
|
|
NM_000202.8(IDS):c.1327C>G (p.Arg443Gly)
|
|
|
NM_000202.8(IDS):c.1350T>A (p.Asp450Glu)
|
rs2123994624
|
|
NM_000202.8(IDS):c.1364G>T (p.Gly455Val)
|
|
|
NM_000202.8(IDS):c.1373G>A (p.Arg458His)
|
|
|
NM_000202.8(IDS):c.1387T>C (p.Tyr463His)
|
rs1365886210
|
|
NM_000202.8(IDS):c.1388A>G (p.Tyr463Cys)
|
|
|
NM_000202.8(IDS):c.1400C>T (p.Pro467Leu)
|
rs1602725808
|
|
NM_000202.8(IDS):c.1409C>T (p.Ser470Leu)
|
|
|
NM_000202.8(IDS):c.1411G>A (p.Asp471Asn)
|
|
|
NM_000202.8(IDS):c.1417C>T (p.Pro473Ser)
|
rs2123994315
|
|
NM_000202.8(IDS):c.142C>T (p.Arg48Cys)
|
|
|
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu)
|
rs2123994251
|
|
NM_000202.8(IDS):c.1447A>G (p.Lys483Glu)
|
rs2123994225
|
|
NM_000202.8(IDS):c.1466G>C (p.Gly489Ala)
|
rs104894863
|
|
NM_000202.8(IDS):c.1472C>A (p.Ser491Tyr)
|
|
|
NM_000202.8(IDS):c.1494del (p.Arg498fs)
|
|
|
NM_000202.8(IDS):c.1498A>G (p.Thr500Ala)
|
|
|
NM_000202.8(IDS):c.1504T>A (p.Trp502Arg)
|
|
|
NM_000202.8(IDS):c.1610A>G (p.Asn537Ser)
|
|
|
NM_000202.8(IDS):c.1621G>T (p.Gly541Cys)
|
|
|
NM_000202.8(IDS):c.1630C>A (p.Leu544Ile)
|
|
|
NM_000202.8(IDS):c.1649C>A (p.Pro550His)
|
|
|
NM_000202.8(IDS):c.1649C>G (p.Pro550Arg)
|
|
|
NM_000202.8(IDS):c.166G>A (p.Asp56Asn)
|
|
|
NM_000202.8(IDS):c.187A>G (p.Asn63Asp)
|
rs193302909
|
|
NM_000202.8(IDS):c.200T>C (p.Leu67Pro)
|
|
|
NM_000202.8(IDS):c.214CTC[1] (p.Leu73del)
|
|
|
NM_000202.8(IDS):c.227A>G (p.Asn76Ser)
|
|
|
NM_000202.8(IDS):c.236C>T (p.Ala79Val)
|
rs368513342
|
|
NM_000202.8(IDS):c.240+3A>G
|
rs2124065632
|
|
NM_000202.8(IDS):c.241-4A>G
|
|
|
NM_000202.8(IDS):c.248T>G (p.Val83Gly)
|
rs1569560525
|
|
NM_000202.8(IDS):c.28C>T (p.Leu10Phe)
|
|
|
NM_000202.8(IDS):c.331G>C (p.Val111Leu)
|
rs1602748386
|
|
NM_000202.8(IDS):c.337G>A (p.Ala113Thr)
|
|
|
NM_000202.8(IDS):c.346T>G (p.Phe116Val)
|
rs2124063192
|
|
NM_000202.8(IDS):c.364T>G (p.Tyr122Asp)
|
|
|
NM_000202.8(IDS):c.380G>A (p.Gly127Asp)
|
|
|
NM_000202.8(IDS):c.383A>C (p.Tyr128Ser)
|
rs2124063021
|
|
NM_000202.8(IDS):c.388A>G (p.Thr130Ala)
|
|
|
NM_000202.8(IDS):c.389C>T (p.Thr130Ile)
|
rs1557340233
|
|
NM_000202.8(IDS):c.418+34G>T
|
rs1463289439
|
|
NM_000202.8(IDS):c.418+4C>G
|
rs782011209
|
|
NM_000202.8(IDS):c.418+6_418+7del
|
|
|
NM_000202.8(IDS):c.419-3A>G
|
|
|
NM_000202.8(IDS):c.421A>G (p.Ile141Val)
|
|
|
NM_000202.8(IDS):c.469C>T (p.Pro157Ser)
|
rs864622774
|
|
NM_000202.8(IDS):c.470C>G (p.Pro157Arg)
|
|
|
NM_000202.8(IDS):c.482C>G (p.Ser161Cys)
|
|
|
NM_000202.8(IDS):c.482C>T (p.Ser161Phe)
|
|
|
NM_000202.8(IDS):c.500A>G (p.Asn167Ser)
|
|
|
NM_000202.8(IDS):c.525T>A (p.Asp175Glu)
|
rs2089452549
|
|
NM_000202.8(IDS):c.551G>A (p.Cys184Tyr)
|
|
|
NM_000202.8(IDS):c.553C>T (p.Pro185Ser)
|
|
|
NM_000202.8(IDS):c.575C>G (p.Pro192Arg)
|
|
|
NM_000202.8(IDS):c.577G>C (p.Glu193Gln)
|
|
|
NM_000202.8(IDS):c.58G>C (p.Val20Leu)
|
|
|
NM_000202.8(IDS):c.608A>T (p.Glu203Val)
|
rs2124046817
|
|
NM_000202.8(IDS):c.64G>A (p.Val22Ile)
|
|
|
NM_000202.8(IDS):c.664G>T (p.Ala222Ser)
|
|
|
NM_000202.8(IDS):c.674A>G (p.Tyr225Cys)
|
|
|
NM_000202.8(IDS):c.699A>G (p.Arg233=)
|
|
|
NM_000202.8(IDS):c.708+6G>T
|
|
|
NM_000202.8(IDS):c.749C>T (p.Ala250Val)
|
|
|
NM_000202.8(IDS):c.754G>T (p.Asp252Tyr)
|
rs146458524
|
|
NM_000202.8(IDS):c.771T>A (p.Asp257Glu)
|
|
|
NM_000202.8(IDS):c.773G>A (p.Gly258Asp)
|
rs2124041717
|
|
NM_000202.8(IDS):c.781C>T (p.Pro261Ser)
|
rs141720810
|
|
NM_000202.8(IDS):c.782C>T (p.Pro261Leu)
|
|
|
NM_000202.8(IDS):c.806A>G (p.Asp269Gly)
|
rs1085308006
|
|
NM_000202.8(IDS):c.833C>T (p.Ala278Val)
|
|
|
NM_000202.8(IDS):c.866C>T (p.Pro289Leu)
|
|
|
NM_000202.8(IDS):c.876T>G (p.Phe292Leu)
|
|
|
NM_000202.8(IDS):c.878A>G (p.Gln293Arg)
|
rs2089435877
|
|
NM_000202.8(IDS):c.880-72A>G
|
rs782031668
|
|
NM_000202.8(IDS):c.880C>T (p.Arg294Trp)
|
|
|
NM_000202.8(IDS):c.890G>A (p.Arg297His)
|
|
|
NM_000202.8(IDS):c.898T>G (p.Tyr300Asp)
|
rs2089380312
|
|
NM_000202.8(IDS):c.904G>T (p.Ala302Ser)
|
|
|
NM_000202.8(IDS):c.931G>T (p.Val311Phe)
|
|
|
NM_000202.8(IDS):c.934G>A (p.Gly312Ser)
|
rs903259179
|
|
NM_000202.8(IDS):c.958G>A (p.Asp320Asn)
|
rs2089379111
|
|
NM_000202.8(IDS):c.970G>A (p.Ala324Thr)
|
|
|
NM_000202.8(IDS):c.98C>T (p.Thr33Ile)
|
|
|
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys)
|
rs370442463
|
|
NM_000203.5(IDUA):c.*100A>G
|
rs1049376214
|
|
NM_000203.5(IDUA):c.-2C>T
|
rs1472246458
|
|
NM_000203.5(IDUA):c.1007A>C (p.Asn336Thr)
|
|
|
NM_000203.5(IDUA):c.1016C>T (p.Ser339Phe)
|
|
|
NM_000203.5(IDUA):c.1030G>C (p.Ala344Pro)
|
rs754095810
|
|
NM_000203.5(IDUA):c.1033C>T (p.Leu345Phe)
|
|
|
NM_000203.5(IDUA):c.103G>A (p.Asp35Asn)
|
rs886059750
|
|
NM_000203.5(IDUA):c.1042_1062dup (p.Ser354_Tyr355insAsnAspAsnAlaPheLeuSer)
|
|
|
NM_000203.5(IDUA):c.1045G>C (p.Asp349His)
|
|
|
NM_000203.5(IDUA):c.1048A>G (p.Asn350Asp)
|
|
|
NM_000203.5(IDUA):c.1049A>G (p.Asn350Ser)
|
rs1577541140
|
|
NM_000203.5(IDUA):c.1052C>T (p.Ala351Val)
|
rs1715142270
|
|
NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)
|
rs1214495121
|
|
NM_000203.5(IDUA):c.1090A>G (p.Thr364Ala)
|
rs1216054018
|
|
NM_000203.5(IDUA):c.1099_1100delinsTT (p.Ala367Leu)
|
|
|
NM_000203.5(IDUA):c.1105T>C (p.Phe369Leu)
|
rs1715147247
|
|
NM_000203.5(IDUA):c.1109A>G (p.Gln370Arg)
|
|
|
NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser)
|
rs1553917304
|
|
NM_000203.5(IDUA):c.1115ACA[1] (p.Asn373del)
|
rs1715148258
|
|
NM_000203.5(IDUA):c.1123C>T (p.Arg375Cys)
|
|
|
NM_000203.5(IDUA):c.1140G>T (p.Gln380His)
|
|
|
NM_000203.5(IDUA):c.1149C>T (p.Arg383=)
|
rs767632084
|
|
NM_000203.5(IDUA):c.1152G>C (p.Lys384Asn)
|
rs1244370377
|
|
NM_000203.5(IDUA):c.1153C>T (p.Pro385Ser)
|
|
|
NM_000203.5(IDUA):c.1160T>C (p.Leu387Pro)
|
rs1553917310
|
|
NM_000203.5(IDUA):c.1163C>T (p.Thr388Met)
|
rs794727896
|
|
NM_000203.5(IDUA):c.1183CTG[1] (p.Leu396del)
|
|
|
NM_000203.5(IDUA):c.1188G>A (p.Leu396=)
|
rs747406598
|
|
NM_000203.5(IDUA):c.1189+5G>A
|
rs1553917318
|
|
NM_000203.5(IDUA):c.1190-10C>A
|
rs1443642527
|
|
NM_000203.5(IDUA):c.1207G>A (p.Ala403Thr)
|
rs1715176840
|
|
NM_000203.5(IDUA):c.1213G>A (p.Val405Met)
|
|
|
NM_000203.5(IDUA):c.1214T>G (p.Val405Gly)
|
|
|
NM_000203.5(IDUA):c.1228A>C (p.Thr410Pro)
|
|
|
NM_000203.5(IDUA):c.1230_1257delinsG (p.Asp413_Leu421del)
|
rs1553917376
|
|
NM_000203.5(IDUA):c.1238_1264del (p.Asp413_Leu421del)
|
rs1168660379
|
|
NM_000203.5(IDUA):c.1244A>G (p.Asn415Ser)
|
|
|
NM_000203.5(IDUA):c.1249_1275del (p.Thr417_His425del)
|
rs1450080299
|
|
NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys)
|
rs1464048268
|
|
NM_000203.5(IDUA):c.1258G>T (p.Val420Phe)
|
|
|
NM_000203.5(IDUA):c.1303C>G (p.Arg435Gly)
|
rs1188900288
|
|
NM_000203.5(IDUA):c.1303C>T (p.Arg435Cys)
|
|
|
NM_000203.5(IDUA):c.1309G>C (p.Ala437Pro)
|
|
|
NM_000203.5(IDUA):c.130C>A (p.Arg44=)
|
rs558851990
|
|
NM_000203.5(IDUA):c.1331A>G (p.Asp444Gly)
|
|
|
NM_000203.5(IDUA):c.1331_1342dup (p.Arg447_Ala448insAspAspThrArg)
|
|
|
NM_000203.5(IDUA):c.1334A>G (p.Asp445Gly)
|
|
|
NM_000203.5(IDUA):c.1340G>A (p.Arg447His)
|
|
|
NM_000203.5(IDUA):c.1349C>G (p.Pro450Arg)
|
rs895626490
|
|
NM_000203.5(IDUA):c.134G>C (p.Arg45Pro)
|
rs1448806369
|
|
NM_000203.5(IDUA):c.1358G>A (p.Ser453Asn)
|
rs2153022656
|
|
NM_000203.5(IDUA):c.1366_1389del (p.Val456_Val463del)
|
rs1553917418
|
|
NM_000203.5(IDUA):c.1367T>G (p.Val456Gly)
|
rs1715192601
|
|
NM_000203.5(IDUA):c.1375C>T (p.Arg459Trp)
|
rs2153022668
|
|
NM_000203.5(IDUA):c.1376G>T (p.Arg459Leu)
|
rs1715193201
|
|
NM_000203.5(IDUA):c.1387G>C (p.Val463Leu)
|
|
|
NM_000203.5(IDUA):c.1390C>G (p.Pro464Ala)
|
rs888528622
|
|
NM_000203.5(IDUA):c.1391C>T (p.Pro464Leu)
|
|
|
NM_000203.5(IDUA):c.1402+5G>A
|
|
|
NM_000203.5(IDUA):c.1424_1426del (p.Tyr475del)
|
rs1553917455
|
|
NM_000203.5(IDUA):c.142A>G (p.Arg48Gly)
|
rs2153015259
|
|
NM_000203.5(IDUA):c.1435G>A (p.Gly479Arg)
|
|
|
NM_000203.5(IDUA):c.143G>A (p.Arg48Lys)
|
|
|
NM_000203.5(IDUA):c.1447C>A (p.Pro483Thr)
|
|
|
NM_000203.5(IDUA):c.1460G>T (p.Trp487Leu)
|
rs1715210316
|
|
NM_000203.5(IDUA):c.1474C>T (p.Arg492Trp)
|
rs778314567
|
|
NM_000203.5(IDUA):c.1475G>T (p.Arg492Leu)
|
|
|
NM_000203.5(IDUA):c.1477C>A (p.Pro493Thr)
|
rs894585162
|
|
NM_000203.5(IDUA):c.1478C>G (p.Pro493Arg)
|
rs375819348
|
|
NM_000203.5(IDUA):c.1478C>T (p.Pro493Leu)
|
|
|
NM_000203.5(IDUA):c.1479C>A (p.Pro493=)
|
rs370394527
|
|
NM_000203.5(IDUA):c.1483T>C (p.Phe495Leu)
|
|
|
NM_000203.5(IDUA):c.1485C>A (p.Phe495Leu)
|
|
|
NM_000203.5(IDUA):c.1489A>G (p.Thr497Ala)
|
|
|
NM_000203.5(IDUA):c.1491G>A (p.Thr497=)
|
rs374102243
|
|
NM_000203.5(IDUA):c.1498C>G (p.Gln500Glu)
|
|
|
NM_000203.5(IDUA):c.1503C>A (p.Phe501Leu)
|
|
|
NM_000203.5(IDUA):c.1504C>T (p.Arg502Trp)
|
|
|
NM_000203.5(IDUA):c.1505G>A (p.Arg502Gln)
|
rs769566506
|
|
NM_000203.5(IDUA):c.1507C>T (p.Arg503Cys)
|
|
|
NM_000203.5(IDUA):c.1509_1511del (p.Met504del)
|
|
|
NM_000203.5(IDUA):c.1525-3dup
|
rs762593235
|
|
NM_000203.5(IDUA):c.1537_1538delinsTT (p.Ala513Leu)
|
|
|
NM_000203.5(IDUA):c.1543C>T (p.Pro515Ser)
|
|
|
NM_000203.5(IDUA):c.1547G>A (p.Arg516His)
|
|
|
NM_000203.5(IDUA):c.1550C>G (p.Pro517Arg)
|
|
|
NM_000203.5(IDUA):c.1550C>T (p.Pro517Leu)
|
rs1051249739
|
|
NM_000203.5(IDUA):c.1558G>C (p.Ala520Pro)
|
|
|
NM_000203.5(IDUA):c.1561G>A (p.Gly521Ser)
|
|
|
NM_000203.5(IDUA):c.1568G>T (p.Arg523Leu)
|
|
|
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu)
|
rs1421520718
|
|
NM_000203.5(IDUA):c.1588C>A (p.Leu530Met)
|
rs749053703
|
|
NM_000203.5(IDUA):c.158G>C (p.Cys53Ser)
|
|
|
NM_000203.5(IDUA):c.1592G>A (p.Arg531Gln)
|
|
|
NM_000203.5(IDUA):c.1603C>T (p.Leu535Phe)
|
rs1577543849
|
|
NM_000203.5(IDUA):c.161C>T (p.Pro54Leu)
|
rs2153015595
|
|
NM_000203.5(IDUA):c.1627C>A (p.Arg543Ser)
|
|
|
NM_000203.5(IDUA):c.1628G>A (p.Arg543His)
|
|
|
NM_000203.5(IDUA):c.1650+12T>C
|
rs1715248390
|
|
NM_000203.5(IDUA):c.1651-10C>T
|
rs548878643
|
|
NM_000203.5(IDUA):c.1651-7C>A
|
rs934115207
|
|
NM_000203.5(IDUA):c.1652T>A (p.Val551Asp)
|
|
|
NM_000203.5(IDUA):c.1658G>T (p.Arg553Leu)
|
|
|
NM_000203.5(IDUA):c.1664G>A (p.Arg555His)
|
|
|
NM_000203.5(IDUA):c.1666G>A (p.Ala556Thr)
|
|
|
NM_000203.5(IDUA):c.1666G>C (p.Ala556Pro)
|
rs771540729
|
|
NM_000203.5(IDUA):c.1670T>A (p.Leu557Gln)
|
rs2153023010
|
|
NM_000203.5(IDUA):c.1679C>A (p.Thr560Asn)
|
rs773249605
|
|
NM_000203.5(IDUA):c.1679C>T (p.Thr560Ile)
|
|
|
NM_000203.5(IDUA):c.167T>C (p.Leu56Pro)
|
rs2153015609
|
|
NM_000203.5(IDUA):c.1694T>C (p.Val565Ala)
|
|
|
NM_000203.5(IDUA):c.1708G>C (p.Asp570His)
|
rs1553917627
|
|
NM_000203.5(IDUA):c.1724C>T (p.Ser575Phe)
|
|
|
NM_000203.5(IDUA):c.1727+6T>A
|
|
|
NM_000203.5(IDUA):c.1727+9G>T
|
rs771420258
|
|
NM_000203.5(IDUA):c.1728-3C>G
|
|
|
NM_000203.5(IDUA):c.1765G>T (p.Gly589Cys)
|
rs144941693
|
|
NM_000203.5(IDUA):c.1784T>G (p.Val595Gly)
|
|
|
NM_000203.5(IDUA):c.1799C>G (p.Ser600Trp)
|
|
|
NM_000203.5(IDUA):c.179A>C (p.Gln60Pro)
|
|
|
NM_000203.5(IDUA):c.179A>G (p.Gln60Arg)
|
|
|
NM_000203.5(IDUA):c.1828+4C>T
|
|
|
NM_000203.5(IDUA):c.1829-3C>T
|
|
|
NM_000203.5(IDUA):c.1855C>G (p.Arg619Gly)
|
rs121965031
|
|
NM_000203.5(IDUA):c.1862G>A (p.Arg621Gln)
|
|
|
NM_000203.5(IDUA):c.1862G>C (p.Arg621Pro)
|
rs762399936
|
|
NM_000203.5(IDUA):c.1873T>C (p.Tyr625His)
|
rs1715312209
|
|
NM_000203.5(IDUA):c.1888G>A (p.Gly630Ser)
|
rs1553917753
|
|
NM_000203.5(IDUA):c.1894T>A (p.Phe632Ile)
|
rs2153023304
|
|
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs)
|
rs1715314710
|
|
NM_000203.5(IDUA):c.1910C>G (p.Pro637Arg)
|
|
|
NM_000203.5(IDUA):c.1914C>G (p.Tyr638Ter)
|
rs768467230
|
|
NM_000203.5(IDUA):c.1918G>T (p.Glu640Ter)
|
rs1553917764
|
|
NM_000203.5(IDUA):c.1928T>C (p.Val643Ala)
|
|
|
NM_000203.5(IDUA):c.1938_1947dup (p.Pro650fs)
|
|
|
NM_000203.5(IDUA):c.1938del (p.Pro648fs)
|
|
|
NM_000203.5(IDUA):c.1942C>T (p.Pro648Ser)
|
|
|
NM_000203.5(IDUA):c.1946C>T (p.Ser649Phe)
|
|
|
NM_000203.5(IDUA):c.1952G>A (p.Gly651Asp)
|
rs750609855
|
|
NM_000203.5(IDUA):c.1955A>G (p.Asn652Ser)
|
|
|
NM_000203.5(IDUA):c.199A>G (p.Ser67Gly)
|
rs370442463
|
|
NM_000203.5(IDUA):c.22G>T (p.Ala8Ser)
|
rs1441549249
|
|
NM_000203.5(IDUA):c.230T>C (p.Val77Ala)
|
rs1560532674
|
|
NM_000203.5(IDUA):c.241C>T (p.Pro81Ser)
|
|
|
NM_000203.5(IDUA):c.247C>T (p.Arg83Cys)
|
rs771733089
|
|
NM_000203.5(IDUA):c.250G>A (p.Gly84Ser)
|
rs564306004
|
|
NM_000203.5(IDUA):c.251G>C (p.Gly84Ala)
|
|
|
NM_000203.5(IDUA):c.25_26delinsAT (p.Ala9Met)
|
|
|
NM_000203.5(IDUA):c.269C>T (p.Thr90Ile)
|
|
|
NM_000203.5(IDUA):c.26C>G (p.Ala9Gly)
|
rs1369414449
|
|
NM_000203.5(IDUA):c.287T>G (p.Leu96Arg)
|
rs1713872403
|
|
NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)
|
|
|
NM_000203.5(IDUA):c.300-3C>G
|
rs1226056948
|
|
NM_000203.5(IDUA):c.301G>A (p.Gly101Arg)
|
rs2153021609
|
|
NM_000203.5(IDUA):c.313C>T (p.Arg105Trp)
|
|
|
NM_000203.5(IDUA):c.314G>C (p.Arg105Pro)
|
|
|
NM_000203.5(IDUA):c.316G>C (p.Gly106Arg)
|
|
|
NM_000203.5(IDUA):c.322A>T (p.Ser108Cys)
|
rs1715015091
|
|
NM_000203.5(IDUA):c.348G>A (p.Gly116=)
|
rs1715016939
|
|
NM_000203.5(IDUA):c.34_45dup (p.Ala15_Ser16insAlaLeuLeuAla)
|
rs1553914754
|
|
NM_000203.5(IDUA):c.356A>C (p.Asp119Ala)
|
|
|
NM_000203.5(IDUA):c.367G>A (p.Glu123Lys)
|
rs577729544
|
|
NM_000203.5(IDUA):c.36_44dup (p.Ala15_Ser16insLeuLeuAla)
|
|
|
NM_000203.5(IDUA):c.399G>C (p.Met133Ile)
|
rs558683362
|
|
NM_000203.5(IDUA):c.410C>G (p.Ser137Trp)
|
rs769949390
|
|
NM_000203.5(IDUA):c.410C>T (p.Ser137Leu)
|
rs769949390
|
|
NM_000203.5(IDUA):c.413G>A (p.Gly138Asp)
|
rs866656054
|
|
NM_000203.5(IDUA):c.416A>C (p.His139Pro)
|
rs2153021706
|
|
NM_000203.5(IDUA):c.438G>C (p.Lys146Asn)
|
|
|
NM_000203.5(IDUA):c.44C>T (p.Ala15Val)
|
rs886059749
|
|
NM_000203.5(IDUA):c.452A>G (p.Glu151Gly)
|
|
|
NM_000203.5(IDUA):c.462C>G (p.Asp154Glu)
|
rs2153021723
|
|
NM_000203.5(IDUA):c.46_57dup (p.Ala19_Ala20insSerLeuLeuAla)
|
|
|
NM_000203.5(IDUA):c.471C>T (p.Ser157=)
|
|
|
NM_000203.5(IDUA):c.485G>A (p.Arg162Lys)
|
rs1553916949
|
|
NM_000203.5(IDUA):c.493+4G>A
|
|
|
NM_000203.5(IDUA):c.493+6C>G
|
rs376738689
|
|
NM_000203.5(IDUA):c.493+6C>T
|
rs376738689
|
|
NM_000203.5(IDUA):c.493G>C (p.Gly165Arg)
|
rs748326989
|
|
NM_000203.5(IDUA):c.494-43C>T
|
|
|
NM_000203.5(IDUA):c.502G>C (p.Gly168Arg)
|
rs753308650
|
|
NM_000203.5(IDUA):c.509C>T (p.Ala170Val)
|
|
|
NM_000203.5(IDUA):c.512A>G (p.His171Arg)
|
|
|
NM_000203.5(IDUA):c.532G>C (p.Glu178Gln)
|
|
|
NM_000203.5(IDUA):c.548C>G (p.Pro183Arg)
|
rs1238128027
|
|
NM_000203.5(IDUA):c.553C>G (p.His185Asp)
|
|
|
NM_000203.5(IDUA):c.556C>T (p.His186Tyr)
|
|
|
NM_000203.5(IDUA):c.55G>C (p.Ala19Pro)
|
rs1713786448
|
|
NM_000203.5(IDUA):c.569A>G (p.Asn190Ser)
|
|
|
NM_000203.5(IDUA):c.575C>G (p.Ser192Cys)
|
rs1189807498
|
|
NM_000203.5(IDUA):c.579G>A (p.Met193Ile)
|
rs2153021918
|
|
NM_000203.5(IDUA):c.590G>A (p.Gly197Asp)
|
rs770087890
|
|
NM_000203.5(IDUA):c.5G>C (p.Arg2Pro)
|
|
|
NM_000203.5(IDUA):c.601TAC[3] (p.Tyr202dup)
|
rs1553917091
|
|
NM_000203.5(IDUA):c.60_61delinsAT (p.Pro21Ser)
|
|
|
NM_000203.5(IDUA):c.613T>A (p.Cys205Ser)
|
|
|
NM_000203.5(IDUA):c.618G>A (p.Ser206=)
|
rs377312287
|
|
NM_000203.5(IDUA):c.61C>A (p.Pro21Thr)
|
|
|
NM_000203.5(IDUA):c.621G>T (p.Glu207Asp)
|
|
|
NM_000203.5(IDUA):c.629G>A (p.Arg210His)
|
|
|
NM_000203.5(IDUA):c.629_630delinsAG (p.Arg210Gln)
|
|
|
NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup)
|
rs760582777
|
|
NM_000203.5(IDUA):c.640_642dup (p.Pro214dup)
|
rs764105238
|
|
NM_000203.5(IDUA):c.641C>G (p.Pro214Arg)
|
|
|
NM_000203.5(IDUA):c.64C>T (p.Pro22Ser)
|
rs1001972534
|
|
NM_000203.5(IDUA):c.655G>C (p.Gly219Arg)
|
|
|
NM_000203.5(IDUA):c.667G>T (p.Asp223Tyr)
|
rs183347428
|
|
NM_000203.5(IDUA):c.669C>G (p.Asp223Glu)
|
|
|
NM_000203.5(IDUA):c.670T>C (p.Ser224Pro)
|
|
|
NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del)
|
rs1553914780
|
|
NM_000203.5(IDUA):c.709C>G (p.Leu237Val)
|
|
|
NM_000203.5(IDUA):c.715C>A (p.Arg239Ser)
|
rs1715096263
|
|
NM_000203.5(IDUA):c.718C>A (p.His240Asn)
|
rs1374359136
|
|
NM_000203.5(IDUA):c.720C>G (p.His240Gln)
|
rs1715096917
|
|
NM_000203.5(IDUA):c.727G>A (p.Asp243Asn)
|
rs1460797649
|
|
NM_000203.5(IDUA):c.734C>T (p.Thr245Ile)
|
rs1226615259
|
|
NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del)
|
rs764800004
|
|
NM_000203.5(IDUA):c.741C>A (p.Phe247Leu)
|
|
|
NM_000203.5(IDUA):c.746C>T (p.Thr249Ile)
|
|
|
NM_000203.5(IDUA):c.74C>T (p.Pro25Leu)
|
|
|
NM_000203.5(IDUA):c.775A>C (p.Ile259Leu)
|
rs2153022099
|
|
NM_000203.5(IDUA):c.793-10C>G
|
rs886059754
|
|
NM_000203.5(IDUA):c.793-9C>A
|
|
|
NM_000203.5(IDUA):c.793-9C>T
|
rs375798875
|
|
NM_000203.5(IDUA):c.794G>A (p.Gly265Asp)
|
|
|
NM_000203.5(IDUA):c.826_828del (p.Glu276del)
|
|
|
NM_000203.5(IDUA):c.828G>C (p.Glu276Asp)
|
|
|
NM_000203.5(IDUA):c.837C>T (p.Val279=)
|
rs758749484
|
|
NM_000203.5(IDUA):c.860T>G (p.Phe287Cys)
|
rs748239393
|
|
NM_000203.5(IDUA):c.86C>G (p.Pro29Arg)
|
|
|
NM_000203.5(IDUA):c.870C>A (p.Phe290Leu)
|
rs1715117568
|
|
NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup)
|
rs1553917216
|
|
NM_000203.5(IDUA):c.894C>A (p.Asp298Glu)
|
|
|
NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)
|
rs121965030
|
|
NM_000203.5(IDUA):c.8C>A (p.Pro3His)
|
|
|
NM_000203.5(IDUA):c.904C>A (p.Pro302Thr)
|
rs1715120993
|
|
NM_000203.5(IDUA):c.916T>G (p.Trp306Gly)
|
|
|
NM_000203.5(IDUA):c.917G>T (p.Trp306Leu)
|
|
|
NM_000203.5(IDUA):c.920C>T (p.Ser307Phe)
|
|
|
NM_000203.5(IDUA):c.932C>G (p.Pro311Arg)
|
|
|
NM_000203.5(IDUA):c.940G>A (p.Ala314Thr)
|
rs1715123919
|
|
NM_000203.5(IDUA):c.94G>T (p.Val32Leu)
|
rs566741452
|
|
NM_000203.5(IDUA):c.950C>T (p.Thr317Ile)
|
|
|
NM_000203.5(IDUA):c.952T>C (p.Tyr318His)
|
|
|
NM_000203.5(IDUA):c.958G>A (p.Ala320Thr)
|
|
|
NM_000203.5(IDUA):c.964G>T (p.Val322Leu)
|
rs1433608644
|
|
NM_000203.5(IDUA):c.973-13T>G
|
|
|
NM_000203.5(IDUA):c.975_980del (p.Ile326_Ala327del)
|
rs1553917253
|
|
NM_000203.5(IDUA):c.977T>C (p.Ile326Thr)
|
rs1461992821
|
|
NM_000203.5(IDUA):c.984G>C (p.Gln328His)
|
|
|
NM_000203.5(IDUA):c.995T>C (p.Leu332Pro)
|
rs1222686614
|
|
NM_000207.2(INS):c.-187_-164del
|
rs1135401727
|
|
NM_000207.3(INS):c.-18+3C>G
|
rs886048112
|
|
NM_000207.3(INS):c.125T>C (p.Val42Ala)
|
rs886037863
|
|
NM_000207.3(INS):c.137G>A (p.Arg46Gln)
|
rs121908260
|
|
NM_000207.3(INS):c.140G>T (p.Gly47Val)
|
rs80356667
|
|
NM_000207.3(INS):c.155C>A (p.Pro52His)
|
rs145038693
|
|
NM_000207.3(INS):c.187+15C>A
|
rs754089310
|
|
NM_000207.3(INS):c.187+241G>A
|
rs886041083
|
|
NM_000207.3(INS):c.188-3C>A
|
rs886048111
|
|
NM_000207.3(INS):c.250G>A (p.Gly84Arg)
|
rs121908274
|
|
NM_000207.3(INS):c.265C>T (p.Arg89Cys)
|
rs80356669
|
|
NM_000207.3(INS):c.268G>T (p.Gly90Cys)
|
rs80356670
|
|
NM_000207.3(INS):c.274G>T (p.Val92Leu)
|
rs121918102
|
|
NM_000207.3(INS):c.287G>A (p.Cys96Tyr)
|
rs80356671
|
|
NM_000207.3(INS):c.3G>A (p.Met1Ile)
|
rs397515521
|
|
NM_000207.3(INS):c.85C>G (p.His29Asp)
|
rs121908272
|
|
NM_000207.3(INS):c.94G>A (p.Gly32Ser)
|
rs80356664
|
|
NM_000208.4(INSR):c.1973T>G (p.Phe658Cys)
|
|
|
NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr)
|
rs775854644
|
|
NM_000208.4(INSR):c.704G>T (p.Cys235Phe)
|
|
|
NM_000209.4(PDX1):c.-50CTCCCGG[5]
|
rs193922352
|
|
NM_000209.4(PDX1):c.107T>G (p.Leu36Arg)
|
rs936861677
|
|
NM_000209.4(PDX1):c.190G>T (p.Asp64Tyr)
|
|
|
NM_000209.4(PDX1):c.282C>G (p.His94Gln)
|
rs2137502663
|
|
NM_000209.4(PDX1):c.363G>T (p.Trp121Cys)
|
|
|
NM_000209.4(PDX1):c.569T>C (p.Ile190Thr)
|
|
|
NM_000209.4(PDX1):c.593G>T (p.Arg198Leu)
|
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
NM_000209.4(PDX1):c.677A>C (p.Asp226Ala)
|
|
|
NM_000209.4(PDX1):c.769C>T (p.Arg257Ter)
|
rs1236618998
|
|
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr)
|
rs192902098
|
|
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala)
|
rs192902098
|
|
NM_000213.5(ITGB4):c.5179_5200del (p.Pro1726_Glu1727insTer)
|
rs759412123
|
|
NM_000213.5(ITGB4):c.5218+2T>C
|
rs780675808
|
|
NM_000213.5(ITGB4):c.5247_5251del (p.Gly1750fs)
|
rs1555746537
|
|
NM_000213.5(ITGB4):c.5350C>T (p.Gln1784Ter)
|
rs1443010160
|
|
NM_000262.3(NAGA):c.*1090G>A
|
rs886057594
|
|
NM_000262.3(NAGA):c.*1299C>T
|
rs886057592
|
|
NM_000262.3(NAGA):c.*1484A>G
|
rs1433090840
|
|
NM_000262.3(NAGA):c.*1789del
|
rs10713176
|
|
NM_000262.3(NAGA):c.*1862C>A
|
rs1926176961
|
|
NM_000262.3(NAGA):c.*730T>C
|
rs1926239462
|
|
NM_000262.3(NAGA):c.*926C>G
|
rs886057595
|
|
NM_000262.3(NAGA):c.-306C>A
|
rs886057598
|
|
NM_000262.3(NAGA):c.-496G>C
|
rs886057599
|
|
NM_000262.3(NAGA):c.-502A>C
|
rs886057600
|
|
NM_000262.3(NAGA):c.1009G>A (p.Ala337Thr)
|
|
|
NM_000262.3(NAGA):c.1036G>A (p.Asp346Asn)
|
|
|
NM_000262.3(NAGA):c.104G>A (p.Arg35His)
|
rs1926874320
|
|
NM_000262.3(NAGA):c.1066G>A (p.Gly356Ser)
|
|
|
NM_000262.3(NAGA):c.1141C>T (p.Arg381Ter)
|
|
|
NM_000262.3(NAGA):c.1172A>C (p.Asn391Thr)
|
rs752717782
|
|
NM_000262.3(NAGA):c.1172A>G (p.Asn391Ser)
|
|
|
NM_000262.3(NAGA):c.1208T>C (p.Ile403Thr)
|
|
|
NM_000262.3(NAGA):c.1224_1225insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACNNNNNNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACCTGGAGATG (p.Ser409fs)
|
rs1926286045
|
|
NM_000262.3(NAGA):c.1225T>A (p.Ser409Thr)
|
rs1569456853
|
|
NM_000262.3(NAGA):c.123C>G (p.Asn41Lys)
|
|
|
NM_000262.3(NAGA):c.16G>A (p.Val6Met)
|
rs1602499597
|
|
NM_000262.3(NAGA):c.256G>A (p.Asp86Asn)
|
|
|
NM_000262.3(NAGA):c.289C>G (p.Arg97Gly)
|
rs140775168
|
|
NM_000262.3(NAGA):c.295C>G (p.Pro99Ala)
|
|
|
NM_000262.3(NAGA):c.314T>A (p.Leu105Gln)
|
|
|
NM_000262.3(NAGA):c.337G>T (p.Gly113Cys)
|
|
|
NM_000262.3(NAGA):c.365T>C (p.Met122Thr)
|
rs1435943514
|
|
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn)
|
rs186173534
|
|
NM_000262.3(NAGA):c.406G>C (p.Asp136His)
|
rs186173534
|
|
NM_000262.3(NAGA):c.486C>G (p.Pro162=)
|
rs760003063
|
|
NM_000262.3(NAGA):c.491A>C (p.Glu164Ala)
|
|
|
NM_000262.3(NAGA):c.541C>T (p.Arg181Cys)
|
|
|
NM_000262.3(NAGA):c.563G>C (p.Ser188Thr)
|
|
|
NM_000262.3(NAGA):c.592C>T (p.Pro198Ser)
|
rs139027070
|
|
NM_000262.3(NAGA):c.730G>A (p.Gly244Ser)
|
|
|
NM_000262.3(NAGA):c.759+17G>T
|
|
|
NM_000262.3(NAGA):c.819G>T (p.Trp273Cys)
|
|
|
NM_000262.3(NAGA):c.833C>T (p.Ala278Val)
|
rs762474603
|
|
NM_000262.3(NAGA):c.838C>G (p.Leu280Val)
|
|
|
NM_000262.3(NAGA):c.91C>G (p.Leu31Val)
|
|
|
NM_000262.3(NAGA):c.925C>T (p.Pro309Ser)
|
|
|
NM_000263.3(NAGLU):c.-78C>G
|
rs886052951
|
|
NM_000263.3(NAGLU):c.-82T>C
|
rs886052950
|
|
NM_000263.4(NAGLU):c.*174A>G
|
rs896549130
|
|
NM_000263.4(NAGLU):c.*198del
|
rs747726415
|
|
NM_000263.4(NAGLU):c.1000G>T (p.Val334Phe)
|
rs749140168
|
|
NM_000263.4(NAGLU):c.100G>C (p.Ala34Pro)
|
rs2092906031
|
|
NM_000263.4(NAGLU):c.1016C>T (p.Thr339Ile)
|
|
|
NM_000263.4(NAGLU):c.1041G>T (p.Trp347Cys)
|
|
|
NM_000263.4(NAGLU):c.1052G>C (p.Gly351Ala)
|
|
|
NM_000263.4(NAGLU):c.1057C>G (p.Leu353Val)
|
|
|
NM_000263.4(NAGLU):c.1063C>T (p.Gln355Ter)
|
|
|
NM_000263.4(NAGLU):c.1072C>T (p.Pro358Ser)
|
|
|
NM_000263.4(NAGLU):c.1090G>A (p.Ala364Thr)
|
|
|
NM_000263.4(NAGLU):c.1090G>T (p.Ala364Ser)
|
rs1459252305
|
|
NM_000263.4(NAGLU):c.1106T>C (p.Val369Ala)
|
rs2143107785
|
|
NM_000263.4(NAGLU):c.1112G>A (p.Gly371Glu)
|
|
|
NM_000263.4(NAGLU):c.111_120delinsAGCC (p.Arg38_Leu40delinsAla)
|
rs2143075726
|
|
NM_000263.4(NAGLU):c.1123C>T (p.Arg375Cys)
|
|
|
NM_000263.4(NAGLU):c.1132C>T (p.Leu378Phe)
|
rs2143107974
|
|
NM_000263.4(NAGLU):c.1141C>G (p.Leu381Val)
|
|
|
NM_000263.4(NAGLU):c.1142T>C (p.Leu381Pro)
|
rs2143108019
|
|
NM_000263.4(NAGLU):c.1144G>T (p.Asp382Tyr)
|
rs1599260473
|
|
NM_000263.4(NAGLU):c.1163_1177del (p.Gln388_Thr392del)
|
rs1555622266
|
|
NM_000263.4(NAGLU):c.1177C>T (p.Arg393Cys)
|
|
|
NM_000263.4(NAGLU):c.1178G>C (p.Arg393Pro)
|
|
|
NM_000263.4(NAGLU):c.1184C>G (p.Ala395Gly)
|
rs1599260536
|
|
NM_000263.4(NAGLU):c.1189T>G (p.Phe397Val)
|
|
|
NM_000263.4(NAGLU):c.1199A>C (p.Gln400Pro)
|
|
|
NM_000263.4(NAGLU):c.119T>G (p.Leu40Arg)
|
|
|
NM_000263.4(NAGLU):c.1212G>C (p.Trp404Cys)
|
rs777670507
|
|
NM_000263.4(NAGLU):c.1229T>A (p.Phe410Tyr)
|
|
|
NM_000263.4(NAGLU):c.1229T>C (p.Phe410Ser)
|
rs574688121
|
|
NM_000263.4(NAGLU):c.1264G>A (p.Ala422Thr)
|
|
|
NM_000263.4(NAGLU):c.1272C>A (p.Asn424Lys)
|
|
|
NM_000263.4(NAGLU):c.1273G>A (p.Gly425Arg)
|
|
|
NM_000263.4(NAGLU):c.1288G>T (p.Ala430Ser)
|
|
|
NM_000263.4(NAGLU):c.1291C>T (p.Arg431Cys)
|
|
|
NM_000263.4(NAGLU):c.1304A>C (p.Asn435Thr)
|
rs764815033
|
|
NM_000263.4(NAGLU):c.1304A>G (p.Asn435Ser)
|
rs764815033
|
|
NM_000263.4(NAGLU):c.1305C>G (p.Asn435Lys)
|
|
|
NM_000263.4(NAGLU):c.1314G>C (p.Met438Ile)
|
rs886493431
|
|
NM_000263.4(NAGLU):c.1318G>C (p.Gly440Arg)
|
rs2143109259
|
|
NM_000263.4(NAGLU):c.1328T>C (p.Met443Thr)
|
|
|
NM_000263.4(NAGLU):c.1329G>A (p.Met443Ile)
|
rs1370763282
|
|
NM_000263.4(NAGLU):c.1336G>A (p.Glu446Lys)
|
rs114625063
|
|
NM_000263.4(NAGLU):c.1348C>G (p.Gln450Glu)
|
|
|
NM_000263.4(NAGLU):c.1391G>A (p.Arg464Gln)
|
|
|
NM_000263.4(NAGLU):c.1391G>C (p.Arg464Pro)
|
|
|
NM_000263.4(NAGLU):c.1395_1397del (p.Lys465_Asp466delinsAsn)
|
rs1555622346
|
|
NM_000263.4(NAGLU):c.1405C>G (p.Pro469Ala)
|
rs894998392
|
|
NM_000263.4(NAGLU):c.1409A>T (p.Asp470Val)
|
|
|
NM_000263.4(NAGLU):c.1439C>T (p.Ala480Val)
|
|
|
NM_000263.4(NAGLU):c.1445G>A (p.Arg482Gln)
|
rs200909691
|
|
NM_000263.4(NAGLU):c.144C>G (p.Phe48Leu)
|
rs104894599
|
|
NM_000263.4(NAGLU):c.1453G>C (p.Val485Leu)
|
rs1332288767
|
|
NM_000263.4(NAGLU):c.145_147del (p.Ser49del)
|
rs2092906185
|
|
NM_000263.4(NAGLU):c.1461C>A (p.His487Gln)
|
rs965655357
|
|
NM_000263.4(NAGLU):c.146C>T (p.Ser49Phe)
|
|
|
NM_000263.4(NAGLU):c.1472G>A (p.Gly491Glu)
|
|
|
NM_000263.4(NAGLU):c.1477G>A (p.Ala493Thr)
|
|
|
NM_000263.4(NAGLU):c.1484G>A (p.Arg495Lys)
|
|
|
NM_000263.4(NAGLU):c.1484G>T (p.Arg495Met)
|
|
|
NM_000263.4(NAGLU):c.1485G>T (p.Arg495Ser)
|
rs2143110806
|
|
NM_000263.4(NAGLU):c.148G>C (p.Val50Leu)
|
|
|
NM_000263.4(NAGLU):c.1490T>C (p.Leu497Pro)
|
rs2092927686
|
|
NM_000263.4(NAGLU):c.1496G>A (p.Arg499Gln)
|
|
|
NM_000263.4(NAGLU):c.14C>T (p.Ala5Val)
|
rs2092905670
|
|
NM_000263.4(NAGLU):c.1508A>G (p.Asn503Ser)
|
|
|
NM_000263.4(NAGLU):c.1509C>A (p.Asn503Lys)
|
rs781603010
|
|
NM_000263.4(NAGLU):c.1522G>T (p.Ala508Ser)
|
|
|
NM_000263.4(NAGLU):c.1531G>A (p.Gly511Ser)
|
rs770129454
|
|
NM_000263.4(NAGLU):c.1538A>G (p.Asn513Ser)
|
|
|
NM_000263.4(NAGLU):c.1540C>T (p.Arg514Cys)
|
|
|
NM_000263.4(NAGLU):c.1541G>A (p.Arg514His)
|
|
|
NM_000263.4(NAGLU):c.1543A>G (p.Ser515Gly)
|
|
|
NM_000263.4(NAGLU):c.1546C>T (p.Pro516Ser)
|
rs1599261339
|
|
NM_000263.4(NAGLU):c.1556G>A (p.Arg519Lys)
|
|
|
NM_000263.4(NAGLU):c.1585A>G (p.Ile529Val)
|
|
|
NM_000263.4(NAGLU):c.1598G>A (p.Arg533Gln)
|
|
|
NM_000263.4(NAGLU):c.1601C>T (p.Ser534Phe)
|
rs2092928280
|
|
NM_000263.4(NAGLU):c.1612G>C (p.Glu538Gln)
|
|
|
NM_000263.4(NAGLU):c.1622G>A (p.Arg541Gln)
|
|
|
NM_000263.4(NAGLU):c.1623G>A (p.Arg541=)
|
rs146438251
|
|
NM_000263.4(NAGLU):c.1639G>A (p.Ala547Thr)
|
|
|
NM_000263.4(NAGLU):c.163G>A (p.Ala55Thr)
|
|
|
NM_000263.4(NAGLU):c.1650G>A (p.Leu550=)
|
|
|
NM_000263.4(NAGLU):c.1655C>T (p.Thr552Ile)
|
|
|
NM_000263.4(NAGLU):c.1663G>A (p.Ala555Thr)
|
|
|
NM_000263.4(NAGLU):c.1664C>T (p.Ala555Val)
|
|
|
NM_000263.4(NAGLU):c.1670G>A (p.Arg557His)
|
|
|
NM_000263.4(NAGLU):c.1694G>T (p.Arg565Leu)
|
rs104894598
|
|
NM_000263.4(NAGLU):c.1699G>T (p.Ala567Ser)
|
rs2092928703
|
|
NM_000263.4(NAGLU):c.1710G>T (p.Glu570Asp)
|
rs2092928775
|
|
NM_000263.4(NAGLU):c.1717A>G (p.Ser573Gly)
|
|
|
NM_000263.4(NAGLU):c.172G>A (p.Ala58Thr)
|
|
|
NM_000263.4(NAGLU):c.172G>C (p.Ala58Pro)
|
|
|
NM_000263.4(NAGLU):c.1735G>A (p.Ala579Thr)
|
|
|
NM_000263.4(NAGLU):c.1737AAG[1] (p.Arg580del)
|
|
|
NM_000263.4(NAGLU):c.1744G>A (p.Ala582Thr)
|
rs144238669
|
|
NM_000263.4(NAGLU):c.176A>T (p.Lys59Met)
|
rs1217324478
|
|
NM_000263.4(NAGLU):c.1778G>A (p.Arg593Lys)
|
rs1274337932
|
|
NM_000263.4(NAGLU):c.1781C>T (p.Ala594Val)
|
rs886052952
|
|
NM_000263.4(NAGLU):c.1789G>A (p.Val597Ile)
|
rs759978970
|
|
NM_000263.4(NAGLU):c.1789G>C (p.Val597Leu)
|
rs759978970
|
|
NM_000263.4(NAGLU):c.1804C>A (p.Leu602Met)
|
|
|
NM_000263.4(NAGLU):c.1822G>C (p.Glu608Gln)
|
|
|
NM_000263.4(NAGLU):c.1825G>A (p.Val609Met)
|
|
|
NM_000263.4(NAGLU):c.1828C>A (p.Leu610Met)
|
|
|
NM_000263.4(NAGLU):c.1851G>T (p.Leu617Phe)
|
rs1555622482
|
|
NM_000263.4(NAGLU):c.1853T>C (p.Leu618Pro)
|
rs2143114107
|
|
NM_000263.4(NAGLU):c.1864C>G (p.Leu622Val)
|
|
|
NM_000263.4(NAGLU):c.1879G>A (p.Ala627Thr)
|
|
|
NM_000263.4(NAGLU):c.1883C>T (p.Ala628Val)
|
|
|
NM_000263.4(NAGLU):c.1888G>A (p.Val630Ile)
|
|
|
NM_000263.4(NAGLU):c.1888G>T (p.Val630Phe)
|
rs764322586
|
|
NM_000263.4(NAGLU):c.1889T>G (p.Val630Gly)
|
|
|
NM_000263.4(NAGLU):c.1903G>A (p.Ala635Thr)
|
|
|
NM_000263.4(NAGLU):c.1909T>C (p.Phe637Leu)
|
|
|
NM_000263.4(NAGLU):c.190A>G (p.Thr64Ala)
|
|
|
NM_000263.4(NAGLU):c.1911C>G (p.Phe637Leu)
|
|
|
NM_000263.4(NAGLU):c.1913A>G (p.Tyr638Cys)
|
rs2143114630
|
|
NM_000263.4(NAGLU):c.1915G>A (p.Glu639Lys)
|
|
|
NM_000263.4(NAGLU):c.1915G>C (p.Glu639Gln)
|
|
|
NM_000263.4(NAGLU):c.1921A>T (p.Asn641Tyr)
|
|
|
NM_000263.4(NAGLU):c.1923C>G (p.Asn641Lys)
|
|
|
NM_000263.4(NAGLU):c.1928G>A (p.Arg643His)
|
rs104894593
|
|
NM_000263.4(NAGLU):c.1930T>G (p.Tyr644Asp)
|
rs2143114887
|
|
NM_000263.4(NAGLU):c.193T>C (p.Tyr65His)
|
rs2143076321
|
|
NM_000263.4(NAGLU):c.1940C>T (p.Thr647Ile)
|
|
|
NM_000263.4(NAGLU):c.1967T>C (p.Leu656Pro)
|
rs2092930000
|
|
NM_000263.4(NAGLU):c.1969G>C (p.Asp657His)
|
rs1599262171
|
|
NM_000263.4(NAGLU):c.197G>A (p.Ser66Asn)
|
|
|
NM_000263.4(NAGLU):c.200T>G (p.Leu67Arg)
|
|
|
NM_000263.4(NAGLU):c.2015C>T (p.Thr672Ile)
|
rs1358789110
|
|
NM_000263.4(NAGLU):c.2027G>T (p.Arg676Leu)
|
rs1341421909
|
|
NM_000263.4(NAGLU):c.202G>A (p.Gly68Ser)
|
|
|
NM_000263.4(NAGLU):c.202_203insCCG (p.Leu67_Gly68insAla)
|
rs1469781984
|
|
NM_000263.4(NAGLU):c.2032T>C (p.Phe678Leu)
|
rs2143115795
|
|
NM_000263.4(NAGLU):c.203GCG[5] (p.Gly71dup)
|
rs1186888836
|
|
NM_000263.4(NAGLU):c.203GCG[6] (p.Gly70_Gly71dup)
|
rs1186888836
|
|
NM_000263.4(NAGLU):c.2042C>G (p.Ala681Gly)
|
|
|
NM_000263.4(NAGLU):c.2053A>C (p.Ser685Arg)
|
|
|
NM_000263.4(NAGLU):c.2053A>G (p.Ser685Gly)
|
rs2143115890
|
|
NM_000263.4(NAGLU):c.2054G>C (p.Ser685Thr)
|
|
|
NM_000263.4(NAGLU):c.2059G>A (p.Ala687Thr)
|
|
|
NM_000263.4(NAGLU):c.2068A>G (p.Ile690Val)
|
|
|
NM_000263.4(NAGLU):c.2068A>T (p.Ile690Phe)
|
rs143906118
|
|
NM_000263.4(NAGLU):c.2076C>G (p.Phe692Leu)
|
rs2092930476
|
|
NM_000263.4(NAGLU):c.2085C>G (p.His695Gln)
|
rs1038367205
|
|
NM_000263.4(NAGLU):c.2092G>A (p.Asp698Asn)
|
rs897126193
|
|
NM_000263.4(NAGLU):c.2099A>G (p.Asn700Ser)
|
|
|
NM_000263.4(NAGLU):c.20_31dup (p.Ala7_Val10dup)
|
rs1555621404
|
|
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)
|
rs1364203992
|
|
NM_000263.4(NAGLU):c.2123_2205del (p.Phe708fs)
|
|
|
NM_000263.4(NAGLU):c.2124C>G (p.Phe708Leu)
|
rs139195906
|
|
NM_000263.4(NAGLU):c.2125G>A (p.Val709Ile)
|
|
|
NM_000263.4(NAGLU):c.2131A>G (p.Ser711Gly)
|
rs1482294617
|
|
NM_000263.4(NAGLU):c.2137dup (p.Gln713fs)
|
|
|
NM_000263.4(NAGLU):c.2139G>C (p.Gln713His)
|
|
|
NM_000263.4(NAGLU):c.2146C>T (p.Pro716Ser)
|
rs2092930793
|
|
NM_000263.4(NAGLU):c.214G>C (p.Ala72Pro)
|
rs2143076526
|
|
NM_000263.4(NAGLU):c.2158C>T (p.Arg720Ter)
|
rs1555622589
|
|
NM_000263.4(NAGLU):c.217G>A (p.Ala73Thr)
|
|
|
NM_000263.4(NAGLU):c.2183AGA[1] (p.Lys729del)
|
rs1216052074
|
|
NM_000263.4(NAGLU):c.2191T>C (p.Phe731Leu)
|
rs760180817
|
|
NM_000263.4(NAGLU):c.2201A>G (p.Tyr734Cys)
|
rs2143116999
|
|
NM_000263.4(NAGLU):c.2201_2204dup (p.Tyr735Ter)
|
rs2092930997
|
|
NM_000263.4(NAGLU):c.2205C>A (p.Tyr735Ter)
|
|
|
NM_000263.4(NAGLU):c.2207C>T (p.Pro736Leu)
|
|
|
NM_000263.4(NAGLU):c.2209C>T (p.Arg737Cys)
|
rs86312
|
|
NM_000263.4(NAGLU):c.2210G>A (p.Arg737His)
|
|
|
NM_000263.4(NAGLU):c.2215G>A (p.Val739Met)
|
|
|
NM_000263.4(NAGLU):c.2218G>A (p.Ala740Thr)
|
|
|
NM_000263.4(NAGLU):c.2229G>A (p.Trp743Ter)
|
rs749371796
|
|
NM_000263.4(NAGLU):c.222C>G (p.Arg74=)
|
rs2143076606
|
|
NM_000263.4(NAGLU):c.2232A>G (p.Ter744Trp)
|
rs1555622606
|
|
NM_000263.4(NAGLU):c.223G>A (p.Val75Met)
|
|
|
NM_000263.4(NAGLU):c.223G>C (p.Val75Leu)
|
rs1460838744
|
|
NM_000263.4(NAGLU):c.239C>T (p.Ser80Phe)
|
rs2092906616
|
|
NM_000263.4(NAGLU):c.241A>G (p.Thr81Ala)
|
rs2092906625
|
|
NM_000263.4(NAGLU):c.242C>T (p.Thr81Met)
|
|
|
NM_000263.4(NAGLU):c.257_262dup (p.Ala86_Ala87dup)
|
rs1555621450
|
|
NM_000263.4(NAGLU):c.259G>T (p.Ala87Ser)
|
|
|
NM_000263.4(NAGLU):c.26C>G (p.Ala9Gly)
|
rs1176961335
|
|
NM_000263.4(NAGLU):c.26C>T (p.Ala9Val)
|
|
|
NM_000263.4(NAGLU):c.26_31del (p.Ala9_Val10del)
|
rs1555621405
|
|
NM_000263.4(NAGLU):c.277C>A (p.Leu93Met)
|
rs1285791183
|
|
NM_000263.4(NAGLU):c.278T>C (p.Leu93Pro)
|
|
|
NM_000263.4(NAGLU):c.28G>A (p.Val10Met)
|
rs1248922504
|
|
NM_000263.4(NAGLU):c.28G>C (p.Val10Leu)
|
|
|
NM_000263.4(NAGLU):c.304G>A (p.Ala102Thr)
|
|
|
NM_000263.4(NAGLU):c.311C>A (p.Ser104Tyr)
|
rs2143077245
|
|
NM_000263.4(NAGLU):c.313G>A (p.Gly105Ser)
|
rs1181544224
|
|
NM_000263.4(NAGLU):c.314G>C (p.Gly105Ala)
|
|
|
NM_000263.4(NAGLU):c.317C>T (p.Ser106Phe)
|
|
|
NM_000263.4(NAGLU):c.31G>C (p.Gly11Arg)
|
|
|
NM_000263.4(NAGLU):c.326G>A (p.Arg109His)
|
rs1224387286
|
|
NM_000263.4(NAGLU):c.326G>T (p.Arg109Leu)
|
|
|
NM_000263.4(NAGLU):c.32G>T (p.Gly11Val)
|
rs1217361905
|
|
NM_000263.4(NAGLU):c.332C>T (p.Pro111Leu)
|
rs1567890347
|
|
NM_000263.4(NAGLU):c.348C>A (p.Ala116=)
|
|
|
NM_000263.4(NAGLU):c.349G>C (p.Val117Leu)
|
|
|
NM_000263.4(NAGLU):c.355G>A (p.Gly119Arg)
|
rs1240470839
|
|
NM_000263.4(NAGLU):c.359A>G (p.Glu120Gly)
|
|
|
NM_000263.4(NAGLU):c.362T>C (p.Leu121Pro)
|
|
|
NM_000263.4(NAGLU):c.370_375del (p.Ala124_Thr125del)
|
rs1555621469
|
|
NM_000263.4(NAGLU):c.377C>T (p.Pro126Leu)
|
|
|
NM_000263.4(NAGLU):c.379A>C (p.Asn127His)
|
rs2143077833
|
|
NM_000263.4(NAGLU):c.37C>T (p.Leu13Phe)
|
|
|
NM_000263.4(NAGLU):c.380A>G (p.Asn127Ser)
|
|
|
NM_000263.4(NAGLU):c.383+3A>G
|
|
|
NM_000263.4(NAGLU):c.383+5C>A
|
rs762932040
|
|
NM_000263.4(NAGLU):c.383+5C>T
|
|
|
NM_000263.4(NAGLU):c.383+6G>T
|
|
|
NM_000263.4(NAGLU):c.384-3C>A
|
rs1216280532
|
|
NM_000263.4(NAGLU):c.392A>G (p.Tyr131Cys)
|
rs762337946
|
|
NM_000263.4(NAGLU):c.40C>A (p.Leu14Ile)
|
|
|
NM_000263.4(NAGLU):c.410C>T (p.Thr137Met)
|
|
|
NM_000263.4(NAGLU):c.422C>T (p.Ser141Phe)
|
rs886043785
|
|
NM_000263.4(NAGLU):c.423_425del (p.Phe142del)
|
rs1555621579
|
|
NM_000263.4(NAGLU):c.437A>T (p.Asp146Val)
|
rs2143082071
|
|
NM_000263.4(NAGLU):c.446G>C (p.Arg149Pro)
|
|
|
NM_000263.4(NAGLU):c.446G>T (p.Arg149Leu)
|
|
|
NM_000263.4(NAGLU):c.453G>T (p.Glu151Asp)
|
|
|
NM_000263.4(NAGLU):c.455G>T (p.Arg152Leu)
|
rs141018386
|
|
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)
|
rs770684838
|
|
NM_000263.4(NAGLU):c.465_467del (p.Asp155_Trp156delinsGlu)
|
rs1238423614
|
|
NM_000263.4(NAGLU):c.472G>T (p.Ala158Ser)
|
|
|
NM_000263.4(NAGLU):c.474_475delinsAA (p.Leu159Met)
|
rs2143082294
|
|
NM_000263.4(NAGLU):c.502T>C (p.Trp168Arg)
|
rs2092910000
|
|
NM_000263.4(NAGLU):c.503G>C (p.Trp168Ser)
|
rs398123281
|
|
NM_000263.4(NAGLU):c.512AGG[1] (p.Glu172del)
|
rs1555621605
|
|
NM_000263.4(NAGLU):c.526C>A (p.Gln176Lys)
|
|
|
NM_000263.4(NAGLU):c.527A>G (p.Gln176Arg)
|
|
|
NM_000263.4(NAGLU):c.541G>T (p.Ala181Ser)
|
|
|
NM_000263.4(NAGLU):c.546G>C (p.Leu182Phe)
|
|
|
NM_000263.4(NAGLU):c.547G>C (p.Gly183Arg)
|
rs1056643237
|
|
NM_000263.4(NAGLU):c.56G>A (p.Gly19Glu)
|
|
|
NM_000263.4(NAGLU):c.59G>A (p.Gly20Asp)
|
rs1344891508
|
|
NM_000263.4(NAGLU):c.5A>G (p.Glu2Gly)
|
|
|
NM_000263.4(NAGLU):c.5_10dup (p.Glu2_Ala3dup)
|
rs1555621396
|
|
NM_000263.4(NAGLU):c.610A>G (p.Met204Val)
|
rs2143086735
|
|
NM_000263.4(NAGLU):c.612G>T (p.Met204Ile)
|
|
|
NM_000263.4(NAGLU):c.614G>C (p.Gly205Ala)
|
|
|
NM_000263.4(NAGLU):c.617A>G (p.Asn206Ser)
|
rs1291552393
|
|
NM_000263.4(NAGLU):c.619C>G (p.Leu207Val)
|
|
|
NM_000263.4(NAGLU):c.626C>T (p.Thr209Ile)
|
rs2143086833
|
|
NM_000263.4(NAGLU):c.643C>T (p.Pro215Ser)
|
|
|
NM_000263.4(NAGLU):c.647C>A (p.Pro216His)
|
|
|
NM_000263.4(NAGLU):c.680A>C (p.His227Pro)
|
rs747155746
|
|
NM_000263.4(NAGLU):c.683G>C (p.Arg228Pro)
|
rs146456266
|
|
NM_000263.4(NAGLU):c.689_694del (p.Leu230_Asp231del)
|
rs2143087937
|
|
NM_000263.4(NAGLU):c.703T>C (p.Ser235Pro)
|
rs2143088010
|
|
NM_000263.4(NAGLU):c.707T>C (p.Phe236Ser)
|
|
|
NM_000263.4(NAGLU):c.718C>T (p.Pro240Ser)
|
|
|
NM_000263.4(NAGLU):c.719C>T (p.Pro240Leu)
|
|
|
NM_000263.4(NAGLU):c.721G>T (p.Val241Leu)
|
|
|
NM_000263.4(NAGLU):c.725T>C (p.Leu242Pro)
|
|
|
NM_000263.4(NAGLU):c.733T>C (p.Phe245Leu)
|
|
|
NM_000263.4(NAGLU):c.737C>A (p.Ala246Glu)
|
|
|
NM_000263.4(NAGLU):c.73G>A (p.Glu25Lys)
|
|
|
NM_000263.4(NAGLU):c.745G>A (p.Val249Ile)
|
rs2092914005
|
|
NM_000263.4(NAGLU):c.74A>G (p.Glu25Gly)
|
|
|
NM_000263.4(NAGLU):c.761C>T (p.Thr254Ile)
|
|
|
NM_000263.4(NAGLU):c.763A>C (p.Arg255=)
|
|
|
NM_000263.4(NAGLU):c.763A>T (p.Arg255Trp)
|
|
|
NM_000263.4(NAGLU):c.764+5G>A
|
|
|
NM_000263.4(NAGLU):c.764G>C (p.Arg255Thr)
|
rs2143088503
|
|
NM_000263.4(NAGLU):c.772C>T (p.Pro258Ser)
|
|
|
NM_000263.4(NAGLU):c.77C>A (p.Ala26Asp)
|
rs988433554
|
|
NM_000263.4(NAGLU):c.77C>T (p.Ala26Val)
|
rs988433554
|
|
NM_000263.4(NAGLU):c.782A>G (p.Asn261Ser)
|
|
|
NM_000263.4(NAGLU):c.787A>G (p.Thr263Ala)
|
rs2143097981
|
|
NM_000263.4(NAGLU):c.7G>T (p.Ala3Ser)
|
rs968875282
|
|
NM_000263.4(NAGLU):c.80_82dup (p.Arg27_Glu28insGly)
|
|
|
NM_000263.4(NAGLU):c.818G>A (p.Cys273Tyr)
|
|
|
NM_000263.4(NAGLU):c.824A>G (p.Tyr275Cys)
|
rs1025860195
|
|
NM_000263.4(NAGLU):c.82_114del (p.Glu28_Arg38del)
|
rs2092905949
|
|
NM_000263.4(NAGLU):c.830_832del (p.Cys277del)
|
rs398123282
|
|
NM_000263.4(NAGLU):c.849G>A (p.Pro283=)
|
|
|
NM_000263.4(NAGLU):c.854A>T (p.Asp285Val)
|
|
|
NM_000263.4(NAGLU):c.857C>T (p.Pro286Leu)
|
|
|
NM_000263.4(NAGLU):c.859A>G (p.Ile287Val)
|
rs2143098654
|
|
NM_000263.4(NAGLU):c.878G>A (p.Ser293Asn)
|
|
|
NM_000263.4(NAGLU):c.884T>G (p.Phe295Cys)
|
|
|
NM_000263.4(NAGLU):c.886C>A (p.Leu296Met)
|
|
|
NM_000263.4(NAGLU):c.899T>C (p.Ile300Thr)
|
|
|
NM_000263.4(NAGLU):c.8C>T (p.Ala3Val)
|
rs2092905628
|
|
NM_000263.4(NAGLU):c.92C>G (p.Ala31Gly)
|
|
|
NM_000263.4(NAGLU):c.933C>G (p.Ala311=)
|
rs115888189
|
|
NM_000263.4(NAGLU):c.946G>A (p.Glu316Lys)
|
rs2143099484
|
|
NM_000263.4(NAGLU):c.949A>G (p.Met317Val)
|
|
|
NM_000263.4(NAGLU):c.951G>A (p.Met317Ile)
|
|
|
NM_000263.4(NAGLU):c.951G>C (p.Met317Ile)
|
|
|
NM_000263.4(NAGLU):c.959C>T (p.Pro320Leu)
|
|
|
NM_000263.4(NAGLU):c.95T>C (p.Val32Ala)
|
|
|
NM_000263.4(NAGLU):c.962C>T (p.Ser321Phe)
|
|
|
NM_000263.4(NAGLU):c.971C>T (p.Pro324Leu)
|
|
|
NM_000263.4(NAGLU):c.979C>T (p.Leu327Phe)
|
|
|
NM_000263.4(NAGLU):c.985G>A (p.Ala329Thr)
|
|
|
NM_000263.4(NAGLU):c.994A>G (p.Thr332Ala)
|
|
|
NM_000263.4(NAGLU):c.9GGTGGC[3] (p.4VA[3])
|
rs1024697806
|
|
NM_000284.4(PDHA1):c.*10_*12del
|
rs752082232
|
|
NM_000284.4(PDHA1):c.*1624T>C
|
rs2063283398
|
|
NM_000284.4(PDHA1):c.*198G>A
|
rs1003909173
|
|
NM_000284.4(PDHA1):c.1008+4C>T
|
|
|
NM_000284.4(PDHA1):c.1010A>C (p.Glu337Ala)
|
|
|
NM_000284.4(PDHA1):c.1014_1034dup (p.Lys344_Glu345insAspAspValGluValArgLys)
|
rs2063244761
|
|
NM_000284.4(PDHA1):c.1021G>C (p.Glu341Gln)
|
|
|
NM_000284.4(PDHA1):c.1031A>G (p.Lys344Arg)
|
rs1244401639
|
|
NM_000284.4(PDHA1):c.1033_1035dup (p.Glu345_Ile346insGlu)
|
|
|
NM_000284.4(PDHA1):c.1035G>T (p.Glu345Asp)
|
|
|
NM_000284.4(PDHA1):c.1042_1053del (p.Asp348_Gln351del)
|
|
|
NM_000284.4(PDHA1):c.1091T>G (p.Leu364Arg)
|
|
|
NM_000284.4(PDHA1):c.1103_1108dup (p.Tyr369_Ser370insPheTyr)
|
|
|
NM_000284.4(PDHA1):c.1109_1122del (p.Ser370fs)
|
|
|
NM_000284.4(PDHA1):c.1117_1128del (p.Pro373_Glu376del)
|
rs1602233040
|
|
NM_000284.4(PDHA1):c.1142A>G (p.Asn381Ser)
|
rs2063247814
|
|
NM_000284.4(PDHA1):c.1143T>G (p.Asn381Lys)
|
|
|
NM_000284.4(PDHA1):c.1144C>A (p.Gln382Lys)
|
|
|
NM_000284.4(PDHA1):c.1159_1164dup (p.Ser388_Val389insLysSer)
|
|
|
NM_000284.4(PDHA1):c.118A>G (p.Lys40Glu)
|
|
|
NM_000284.4(PDHA1):c.133C>T (p.Arg45Trp)
|
|
|
NM_000284.4(PDHA1):c.194A>C (p.Tyr65Ser)
|
|
|
NM_000284.4(PDHA1):c.231A>T (p.Lys77Asn)
|
rs2147174771
|
|
NM_000284.4(PDHA1):c.239A>C (p.Gln80Pro)
|
|
|
NM_000284.4(PDHA1):c.250C>A (p.Gln84Lys)
|
|
|
NM_000284.4(PDHA1):c.265G>A (p.Gly89Ser)
|
rs1569190092
|
|
NM_000284.4(PDHA1):c.335_349del (p.Asp112_Thr116del)
|
|
|
NM_000284.4(PDHA1):c.397G>A (p.Glu133Lys)
|
|
|
NM_000284.4(PDHA1):c.427G>A (p.Gly143Arg)
|
rs1057518695
|
|
NM_000284.4(PDHA1):c.434G>A (p.Cys145Tyr)
|
rs1555933946
|
|
NM_000284.4(PDHA1):c.47C>T (p.Ser16Phe)
|
|
|
NM_000284.4(PDHA1):c.499G>C (p.Val167Leu)
|
rs2063174067
|
|
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu)
|
rs1602226867
|
|
NM_000284.4(PDHA1):c.531T>G (p.Ile177Met)
|
rs2063182775
|
|
NM_000284.4(PDHA1):c.535C>G (p.Leu179Val)
|
rs2147179733
|
|
NM_000284.4(PDHA1):c.536T>C (p.Leu179Pro)
|
rs1555934165
|
|
NM_000284.4(PDHA1):c.548A>G (p.Tyr183Cys)
|
rs2147179754
|
|
NM_000284.4(PDHA1):c.57+2505C>G
|
|
|
NM_000284.4(PDHA1):c.630G>T (p.Met210Ile)
|
rs2147180753
|
|
NM_000284.4(PDHA1):c.65G>C (p.Arg22Thr)
|
rs1057518756
|
|
NM_000284.4(PDHA1):c.707C>T (p.Ala236Val)
|
rs863224145
|
|
NM_000284.4(PDHA1):c.734G>C (p.Arg245Thr)
|
|
|
NM_000284.4(PDHA1):c.739G>A (p.Asp247Asn)
|
rs2063189797
|
|
NM_000284.4(PDHA1):c.759+26G>A
|
rs1555934413
|
|
NM_000284.4(PDHA1):c.766G>A (p.Gly256Arg)
|
|
|
NM_000284.4(PDHA1):c.769A>G (p.Met257Val)
|
|
|
NM_000284.4(PDHA1):c.784G>T (p.Val262Phe)
|
|
|
NM_000284.4(PDHA1):c.790G>A (p.Glu264Lys)
|
|
|
NM_000284.4(PDHA1):c.821G>C (p.Arg274Thr)
|
rs2063192867
|
|
NM_000284.4(PDHA1):c.832-6T>C
|
rs2063212957
|
|
NM_000284.4(PDHA1):c.839T>G (p.Ile280Ser)
|
rs1602229682
|
|
NM_000284.4(PDHA1):c.900-12_936dup
|
|
|
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala)
|
rs1602231489
|
|
NM_000284.4(PDHA1):c.946C>G (p.Pro316Ala)
|
|
|
NM_000284.4(PDHA1):c.953T>A (p.Met318Lys)
|
|
|
NM_000284.4(PDHA1):c.963_977dup (p.Lys321_Val325dup)
|
rs2063233021
|
|
NM_000284.4(PDHA1):c.98A>T (p.Asp33Val)
|
|
|
NM_000284.4(PDHA1):c.998_1008+20dup
|
rs2063233544
|
|
NM_000289.5(PFKM):c.-176C>T
|
rs886049451
|
|
NM_000289.5(PFKM):c.-64C>T
|
rs886049452
|
|
NM_000289.6(PFKM):c.*134G>A
|
rs886049456
|
|
NM_000289.6(PFKM):c.*489T>A
|
rs886049457
|
|
NM_000289.6(PFKM):c.*503G>T
|
rs747797192
|
|
NM_000289.6(PFKM):c.*564G>A
|
rs1951034681
|
|
NM_000289.6(PFKM):c.*98G>A
|
rs886049455
|
|
NM_000289.6(PFKM):c.1028C>A (p.Ala343Asp)
|
|
|
NM_000289.6(PFKM):c.1034G>A (p.Arg345His)
|
|
|
NM_000289.6(PFKM):c.1043T>C (p.Leu348Pro)
|
rs1203659685
|
|
NM_000289.6(PFKM):c.1060G>T (p.Val354Leu)
|
|
|
NM_000289.6(PFKM):c.1063-6C>A
|
rs371033104
|
|
NM_000289.6(PFKM):c.1063-7C>T
|
rs776228408
|
|
NM_000289.6(PFKM):c.1064C>A (p.Thr355Asn)
|
|
|
NM_000289.6(PFKM):c.1114A>G (p.Lys372Glu)
|
rs1950380994
|
|
NM_000289.6(PFKM):c.1127+6G>T
|
|
|
NM_000289.6(PFKM):c.1177C>T (p.Pro393Ser)
|
|
|
NM_000289.6(PFKM):c.1191+12T>G
|
rs2135983216
|
|
NM_000289.6(PFKM):c.1191+3A>G
|
|
|
NM_000289.6(PFKM):c.1192-3_1192-2del
|
rs780969059
|
|
NM_000289.6(PFKM):c.1193G>A (p.Ser398Asn)
|
|
|
NM_000289.6(PFKM):c.1199C>T (p.Ser400Leu)
|
|
|
NM_000289.6(PFKM):c.1208T>C (p.Val403Ala)
|
|
|
NM_000289.6(PFKM):c.1226G>T (p.Gly409Val)
|
|
|
NM_000289.6(PFKM):c.1255G>A (p.Val419Ile)
|
rs1266995508
|
|
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln)
|
rs374824469
|
|
NM_000289.6(PFKM):c.133G>A (p.Gly45Ser)
|
|
|
NM_000289.6(PFKM):c.1342-15G>A
|
|
|
NM_000289.6(PFKM):c.1439A>G (p.Gln480Arg)
|
|
|
NM_000289.6(PFKM):c.1441A>T (p.Ile481Phe)
|
|
|
NM_000289.6(PFKM):c.1451A>G (p.Asn484Ser)
|
|
|
NM_000289.6(PFKM):c.1453A>G (p.Ile485Val)
|
|
|
NM_000289.6(PFKM):c.1487T>C (p.Ile496Thr)
|
|
|
NM_000289.6(PFKM):c.1514G>T (p.Gly505Val)
|
rs774891977
|
|
NM_000289.6(PFKM):c.1565T>C (p.Phe522Ser)
|
|
|
NM_000289.6(PFKM):c.160-13A>G
|
|
|
NM_000289.6(PFKM):c.1618G>A (p.Val540Ile)
|
|
|
NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg)
|
rs1950621584
|
|
NM_000289.6(PFKM):c.1654-54_1654-46del
|
|
|
NM_000289.6(PFKM):c.1711G>A (p.Glu571Lys)
|
|
|
NM_000289.6(PFKM):c.1742C>T (p.Ala581Val)
|
|
|
NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn)
|
|
|
NM_000289.6(PFKM):c.1808G>A (p.Arg603Gln)
|
|
|
NM_000289.6(PFKM):c.1826T>C (p.Val609Ala)
|
|
|
NM_000289.6(PFKM):c.1880+3A>G
|
|
|
NM_000289.6(PFKM):c.1880+5C>G
|
|
|
NM_000289.6(PFKM):c.189T>G (p.Asp63Glu)
|
|
|
NM_000289.6(PFKM):c.1918A>G (p.Ile640Val)
|
|
|
NM_000289.6(PFKM):c.1925A>C (p.Asn642Thr)
|
|
|
NM_000289.6(PFKM):c.1934C>T (p.Ser645Phe)
|
|
|
NM_000289.6(PFKM):c.2039G>A (p.Gly680Asp)
|
|
|
NM_000289.6(PFKM):c.2041G>A (p.Ala681Thr)
|
|
|
NM_000289.6(PFKM):c.2053A>G (p.Asn685Asp)
|
|
|
NM_000289.6(PFKM):c.2077G>C (p.Glu693Gln)
|
|
|
NM_000289.6(PFKM):c.2086C>T (p.Arg696Cys)
|
|
|
NM_000289.6(PFKM):c.2093-33G>C
|
|
|
NM_000289.6(PFKM):c.20A>G (p.His7Arg)
|
|
|
NM_000289.6(PFKM):c.2100C>G (p.Ile700Met)
|
rs2136051089
|
|
NM_000289.6(PFKM):c.2108A>T (p.Asn703Ile)
|
rs1950938419
|
|
NM_000289.6(PFKM):c.2120C>T (p.Ser707Leu)
|
|
|
NM_000289.6(PFKM):c.213G>T (p.Glu71Asp)
|
|
|
NM_000289.6(PFKM):c.2161C>G (p.Gln721Glu)
|
|
|
NM_000289.6(PFKM):c.2173G>A (p.Glu725Lys)
|
rs1176082291
|
|
NM_000289.6(PFKM):c.2202T>G (p.His734Gln)
|
|
|
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg)
|
rs1950977797
|
|
NM_000289.6(PFKM):c.2234dup (p.Arg746fs)
|
|
|
NM_000289.6(PFKM):c.2253C>G (p.Ile751Met)
|
|
|
NM_000289.6(PFKM):c.2266G>A (p.Glu756Lys)
|
|
|
NM_000289.6(PFKM):c.2274C>G (p.Asp758Glu)
|
rs1950983081
|
|
NM_000289.6(PFKM):c.2282C>G (p.Thr761Ser)
|
rs1592832922
|
|
NM_000289.6(PFKM):c.2287G>A (p.Asp763Asn)
|
|
|
NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile)
|
|
|
NM_000289.6(PFKM):c.2315G>A (p.Arg772Gln)
|
|
|
NM_000289.6(PFKM):c.2326G>A (p.Gly776Arg)
|
|
|
NM_000289.6(PFKM):c.2327G>A (p.Gly776Glu)
|
|
|
NM_000289.6(PFKM):c.237+5_237+6insCTGAATATG
|
|
|
NM_000289.6(PFKM):c.238-3A>G
|
|
|
NM_000289.6(PFKM):c.293G>A (p.Arg98Gln)
|
|
|
NM_000289.6(PFKM):c.321G>C (p.Lys107Asn)
|
|
|
NM_000289.6(PFKM):c.335A>G (p.Asn112Ser)
|
rs1592727517
|
|
NM_000289.6(PFKM):c.360C>T (p.Gly120=)
|
rs886049453
|
|
NM_000289.6(PFKM):c.374C>A (p.Ala125Asp)
|
|
|
NM_000289.6(PFKM):c.385C>T (p.Arg129Cys)
|
|
|
NM_000289.6(PFKM):c.38G>A (p.Gly13Glu)
|
|
|
NM_000289.6(PFKM):c.427G>A (p.Gly143Ser)
|
|
|
NM_000289.6(PFKM):c.431A>C (p.Lys144Thr)
|
|
|
NM_000289.6(PFKM):c.452C>T (p.Thr151Met)
|
|
|
NM_000289.6(PFKM):c.512G>T (p.Gly171Val)
|
|
|
NM_000289.6(PFKM):c.550C>T (p.Arg184Trp)
|
|
|
NM_000289.6(PFKM):c.551G>A (p.Arg184Gln)
|
|
|
NM_000289.6(PFKM):c.558G>A (p.Met186Ile)
|
|
|
NM_000289.6(PFKM):c.619G>C (p.Val207Leu)
|
|
|
NM_000289.6(PFKM):c.628C>T (p.Arg210Cys)
|
|
|
NM_000289.6(PFKM):c.638+4A>G
|
|
|
NM_000289.6(PFKM):c.712G>A (p.Asp238Asn)
|
|
|
NM_000289.6(PFKM):c.71G>C (p.Gly24Ala)
|
rs1948422341
|
|
NM_000289.6(PFKM):c.74G>T (p.Gly25Val)
|
|
|
NM_000289.6(PFKM):c.757C>T (p.Arg253Cys)
|
|
|
NM_000289.6(PFKM):c.766C>T (p.Arg256Cys)
|
|
|
NM_000289.6(PFKM):c.799A>G (p.Ile267Val)
|
|
|
NM_000289.6(PFKM):c.846G>A (p.Leu282=)
|
rs1310081048
|
|
NM_000289.6(PFKM):c.856C>T (p.Arg286Cys)
|
|
|
NM_000289.6(PFKM):c.857G>T (p.Arg286Leu)
|
|
|
NM_000289.6(PFKM):c.86G>A (p.Gly29Asp)
|
|
|
NM_000289.6(PFKM):c.872C>G (p.Thr291Ser)
|
|
|
NM_000289.6(PFKM):c.874C>T (p.Arg292Trp)
|
|
|
NM_000289.6(PFKM):c.883G>A (p.Val295Ile)
|
|
|
NM_000289.6(PFKM):c.926A>T (p.Asp309Val)
|
|
|
NM_000289.6(PFKM):c.962T>C (p.Val321Ala)
|
|
|
NM_000289.6(PFKM):c.995C>T (p.Pro332Leu)
|
|
|
NM_000290.4(PGAM2):c.106G>A (p.Glu36Lys)
|
|
|
NM_000290.4(PGAM2):c.125C>T (p.Ala42Val)
|
|
|
NM_000290.4(PGAM2):c.136A>G (p.Lys46Glu)
|
|
|
NM_000290.4(PGAM2):c.13C>T (p.Arg5Cys)
|
|
|
NM_000290.4(PGAM2):c.14G>A (p.Arg5His)
|
|
|
NM_000290.4(PGAM2):c.155T>C (p.Phe52Ser)
|
|
|
NM_000290.4(PGAM2):c.161T>C (p.Ile54Thr)
|
|
|
NM_000290.4(PGAM2):c.170C>T (p.Thr57Met)
|
|
|
NM_000290.4(PGAM2):c.193C>T (p.Arg65Cys)
|
|
|
NM_000290.4(PGAM2):c.221C>T (p.Thr74Met)
|
|
|
NM_000290.4(PGAM2):c.232T>C (p.Trp78Arg)
|
rs1191913196
|
|
NM_000290.4(PGAM2):c.244G>A (p.Val82Met)
|
rs528467394
|
|
NM_000290.4(PGAM2):c.244G>T (p.Val82Leu)
|
rs528467394
|
|
NM_000290.4(PGAM2):c.247C>T (p.Arg83Cys)
|
|
|
NM_000290.4(PGAM2):c.251C>A (p.Thr84Asn)
|
|
|
NM_000290.4(PGAM2):c.251C>G (p.Thr84Ser)
|
|
|
NM_000290.4(PGAM2):c.257G>A (p.Arg86His)
|
|
|
NM_000290.4(PGAM2):c.28C>T (p.Arg10Trp)
|
|
|
NM_000290.4(PGAM2):c.29G>A (p.Arg10Gln)
|
|
|
NM_000290.4(PGAM2):c.350G>A (p.Arg117His)
|
|
|
NM_000290.4(PGAM2):c.359A>G (p.Asp120Gly)
|
|
|
NM_000290.4(PGAM2):c.35_37del (p.Gly12del)
|
rs2096158222
|
|
NM_000290.4(PGAM2):c.368C>G (p.Pro123Arg)
|
rs372435680
|
|
NM_000290.4(PGAM2):c.368C>T (p.Pro123Leu)
|
|
|
NM_000290.4(PGAM2):c.382G>A (p.Glu128Lys)
|
|
|
NM_000290.4(PGAM2):c.419G>A (p.Arg140His)
|
|
|
NM_000290.4(PGAM2):c.422G>A (p.Arg141Gln)
|
|
|
NM_000290.4(PGAM2):c.426C>T (p.Tyr142=)
|
rs376134077
|
|
NM_000290.4(PGAM2):c.431G>A (p.Gly144Asp)
|
|
|
NM_000290.4(PGAM2):c.442G>C (p.Gly148Arg)
|
|
|
NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)
|
rs199869174
|
|
NM_000290.4(PGAM2):c.460G>A (p.Glu154Lys)
|
|
|
NM_000290.4(PGAM2):c.485G>A (p.Arg162Gln)
|
|
|
NM_000290.4(PGAM2):c.485G>C (p.Arg162Pro)
|
|
|
NM_000290.4(PGAM2):c.501G>C (p.Trp167Cys)
|
|
|
NM_000290.4(PGAM2):c.505G>A (p.Glu169Lys)
|
|
|
NM_000290.4(PGAM2):c.511A>C (p.Ile171Leu)
|
rs372452057
|
|
NM_000290.4(PGAM2):c.51C>A (p.Asn17Lys)
|
|
|
NM_000290.4(PGAM2):c.576C>T (p.Gly192=)
|
rs2096156189
|
|
NM_000290.4(PGAM2):c.595G>T (p.Gly199Trp)
|
|
|
NM_000290.4(PGAM2):c.59A>C (p.Asn20Thr)
|
|
|
NM_000290.4(PGAM2):c.62G>A (p.Arg21His)
|
rs1392611950
|
|
NM_000290.4(PGAM2):c.673A>C (p.Lys225Gln)
|
|
|
NM_000290.4(PGAM2):c.70G>A (p.Gly24Ser)
|
|
|
NM_000290.4(PGAM2):c.713C>T (p.Thr238Met)
|
|
|
NM_000290.4(PGAM2):c.93T>G (p.Ser31Arg)
|
|
|
NM_000291.4(PGK1):c.1043T>G (p.Phe348Cys)
|
rs2149137029
|
|
NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys)
|
rs1603398740
|
|
NM_000291.4(PGK1):c.1195A>T (p.Ser399Cys)
|
|
|
NM_000291.4(PGK1):c.164C>A (p.Ala55Asp)
|
rs2149132087
|
|
NM_000291.4(PGK1):c.178C>T (p.Leu60Phe)
|
|
|
NM_000291.4(PGK1):c.278T>C (p.Val93Ala)
|
|
|
NM_000291.4(PGK1):c.338_346del (p.Ala113_Ser115del)
|
|
|
NM_000291.4(PGK1):c.352C>A (p.Leu118Met)
|
|
|
NM_000291.4(PGK1):c.360G>T (p.Glu120Asp)
|
rs2149132255
|
|
NM_000291.4(PGK1):c.418-7T>G
|
|
|
NM_000291.4(PGK1):c.427G>A (p.Glu143Lys)
|
|
|
NM_000291.4(PGK1):c.44A>G (p.Lys15Arg)
|
rs2078257877
|
|
NM_000291.4(PGK1):c.469C>A (p.Leu157Ile)
|
|
|
NM_000291.4(PGK1):c.488A>G (p.Asn163Ser)
|
|
|
NM_000291.4(PGK1):c.522C>T (p.Ser174=)
|
|
|
NM_000291.4(PGK1):c.53G>C (p.Arg18Pro)
|
|
|
NM_000291.4(PGK1):c.545C>T (p.Pro182Leu)
|
|
|
NM_000291.4(PGK1):c.576G>C (p.Lys192Asn)
|
|
|
NM_000291.4(PGK1):c.806T>G (p.Leu269Arg)
|
|
|
NM_000291.4(PGK1):c.909_910delinsTT (p.Ala304Ser)
|
rs2149136202
|
|
NM_000292.3(PHKA2):c.1081A>G (p.Arg361Gly)
|
|
|
NM_000292.3(PHKA2):c.1121C>T (p.Ala374Val)
|
|
|
NM_000292.3(PHKA2):c.1153A>G (p.Lys385Glu)
|
|
|
NM_000292.3(PHKA2):c.1168G>A (p.Val390Ile)
|
|
|
NM_000292.3(PHKA2):c.1462C>T (p.Arg488Trp)
|
|
|
NM_000292.3(PHKA2):c.1490G>A (p.Arg497Gln)
|
rs2048199652
|
|
NM_000292.3(PHKA2):c.1492C>A (p.Pro498Thr)
|
|
|
NM_000292.3(PHKA2):c.1519A>G (p.Thr507Ala)
|
|
|
NM_000292.3(PHKA2):c.1569+3G>A
|
|
|
NM_000292.3(PHKA2):c.1655C>T (p.Thr552Ile)
|
|
|
NM_000292.3(PHKA2):c.167G>A (p.Gly56Asp)
|
rs2147995267
|
|
NM_000292.3(PHKA2):c.1757T>G (p.Ile586Ser)
|
|
|
NM_000292.3(PHKA2):c.1775G>T (p.Gly592Val)
|
rs370965746
|
|
NM_000292.3(PHKA2):c.1794-8_1794-6del
|
|
|
NM_000292.3(PHKA2):c.1964-3C>T
|
rs1035866155
|
|
NM_000292.3(PHKA2):c.1975G>A (p.Glu659Lys)
|
|
|
NM_000292.3(PHKA2):c.218A>G (p.Lys73Arg)
|
|
|
NM_000292.3(PHKA2):c.2381A>G (p.Asn794Ser)
|
rs886801187
|
|
NM_000292.3(PHKA2):c.2401G>T (p.Val801Phe)
|
|
|
NM_000292.3(PHKA2):c.2470C>T (p.Arg824Cys)
|
rs2047851598
|
|
NM_000292.3(PHKA2):c.2471G>C (p.Arg824Pro)
|
rs1569298640
|
|
NM_000292.3(PHKA2):c.2503G>A (p.Glu835Lys)
|
rs1234436850
|
|
NM_000292.3(PHKA2):c.2517+5G>A
|
rs2047850403
|
|
NM_000292.3(PHKA2):c.2597+2dup
|
rs2047830748
|
|
NM_000292.3(PHKA2):c.2598G>T (p.Ala866=)
|
|
|
NM_000292.3(PHKA2):c.2600C>T (p.Pro867Leu)
|
|
|
NM_000292.3(PHKA2):c.272G>A (p.Cys91Tyr)
|
rs2147991232
|
|
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr)
|
rs1158193880
|
|
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro)
|
rs1324893950
|
|
NM_000292.3(PHKA2):c.286-10del
|
rs766261786
|
|
NM_000292.3(PHKA2):c.2864T>C (p.Leu955Pro)
|
rs2147851573
|
|
NM_000292.3(PHKA2):c.2894G>A (p.Gly965Asp)
|
|
|
NM_000292.3(PHKA2):c.2969C>T (p.Thr990Ile)
|
|
|
NM_000292.3(PHKA2):c.3028A>G (p.Met1010Val)
|
rs1601700586
|
|
NM_000292.3(PHKA2):c.3064T>A (p.Ser1022Thr)
|
rs773766679
|
|
NM_000292.3(PHKA2):c.3121A>G (p.Thr1041Ala)
|
|
|
NM_000292.3(PHKA2):c.3174C>G (p.Ile1058Met)
|
|
|
NM_000292.3(PHKA2):c.3205C>T (p.Arg1069Cys)
|
|
|
NM_000292.3(PHKA2):c.3262G>A (p.Val1088Met)
|
|
|
NM_000292.3(PHKA2):c.3284G>A (p.Cys1095Tyr)
|
|
|
NM_000292.3(PHKA2):c.3287A>G (p.His1096Arg)
|
|
|
NM_000292.3(PHKA2):c.3336G>C (p.Glu1112Asp)
|
|
|
NM_000292.3(PHKA2):c.3356A>G (p.Lys1119Arg)
|
rs2047493147
|
|
NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys)
|
rs1555988071
|
|
NM_000292.3(PHKA2):c.3388C>T (p.Arg1130Cys)
|
|
|
NM_000292.3(PHKA2):c.3409C>T (p.Arg1137Trp)
|
|
|
NM_000292.3(PHKA2):c.3410G>C (p.Arg1137Pro)
|
|
|
NM_000292.3(PHKA2):c.3424G>A (p.Glu1142Lys)
|
|
|
NM_000292.3(PHKA2):c.346T>A (p.Tyr116Asn)
|
rs1601776489
|
|
NM_000292.3(PHKA2):c.3491T>A (p.Val1164Glu)
|
rs2147802543
|
|
NM_000292.3(PHKA2):c.3516T>G (p.Ser1172Arg)
|
|
|
NM_000292.3(PHKA2):c.3557A>C (p.Asp1186Ala)
|
|
|
NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe)
|
rs1569286164
|
|
NM_000292.3(PHKA2):c.3628G>A (p.Gly1210Arg)
|
rs1601685360
|
|
NM_000292.3(PHKA2):c.3645_3646dup (p.Thr1216fs)
|
rs2147799052
|
|
NM_000292.3(PHKA2):c.3708G>C (p.Ter1236Tyr)
|
rs2047465246
|
|
NM_000292.3(PHKA2):c.395A>G (p.His132Arg)
|
rs137852291
|
|
NM_000292.3(PHKA2):c.44C>T (p.Ala15Val)
|
|
|
NM_000292.3(PHKA2):c.473C>T (p.Thr158Ile)
|
rs2147981456
|
|
NM_000292.3(PHKA2):c.488C>T (p.Ala163Val)
|
|
|
NM_000292.3(PHKA2):c.509T>C (p.Phe170Ser)
|
|
|
NM_000292.3(PHKA2):c.538G>A (p.Asp180Asn)
|
|
|
NM_000292.3(PHKA2):c.547A>G (p.Met183Val)
|
|
|
NM_000292.3(PHKA2):c.555G>C (p.Glu185Asp)
|
rs774250532
|
|
NM_000292.3(PHKA2):c.721A>C (p.Ile241Leu)
|
|
|
NM_000292.3(PHKA2):c.740C>G (p.Pro247Arg)
|
rs2147963178
|
|
NM_000292.3(PHKA2):c.749C>T (p.Ser250Leu)
|
rs2048489995
|
|
NM_000292.3(PHKA2):c.772G>A (p.Gly258Arg)
|
rs2147962993
|
|
NM_000292.3(PHKA2):c.7A>C (p.Ser3Arg)
|
rs2049222511
|
|
NM_000292.3(PHKA2):c.893G>C (p.Arg298Pro)
|
rs1359540820
|
|
NM_000292.3(PHKA2):c.898G>A (p.Gly300Ser)
|
rs2147958526
|
|
NM_000292.3(PHKA2):c.959T>C (p.Leu320Pro)
|
|
|
NM_000292.3(PHKA2):c.977G>A (p.Cys326Tyr)
|
rs1601758342
|
|
NM_000293.3(PHKB):c.*1007G>A
|
rs1047494618
|
|
NM_000293.3(PHKB):c.*1105T>C
|
rs1365256572
|
|
NM_000293.3(PHKB):c.*1253A>G
|
rs1974232128
|
|
NM_000293.3(PHKB):c.*1262A>C
|
rs886052030
|
|
NM_000293.3(PHKB):c.*2104T>C
|
rs886052033
|
|
NM_000293.3(PHKB):c.*221C>T
|
rs1974213779
|
|
NM_000293.3(PHKB):c.*405G>T
|
rs1597192442
|
|
NM_000293.3(PHKB):c.*523T>C
|
rs886052027
|
|
NM_000293.3(PHKB):c.100A>G (p.Ser34Gly)
|
|
|
NM_000293.3(PHKB):c.1031A>T (p.Asp344Val)
|
|
|
NM_000293.3(PHKB):c.1034C>G (p.Pro345Arg)
|
|
|
NM_000293.3(PHKB):c.1054C>G (p.Pro352Ala)
|
rs1197477921
|
|
NM_000293.3(PHKB):c.1069-3T>C
|
|
|
NM_000293.3(PHKB):c.1097C>T (p.Pro366Leu)
|
|
|
NM_000293.3(PHKB):c.10del (p.Ala4fs)
|
|
|
NM_000293.3(PHKB):c.1117A>G (p.Met373Val)
|
rs1972067736
|
|
NM_000293.3(PHKB):c.1127-6T>A
|
|
|
NM_000293.3(PHKB):c.1205-16T>G
|
|
|
NM_000293.3(PHKB):c.1205G>A (p.Gly402Glu)
|
|
|
NM_000293.3(PHKB):c.1222A>C (p.Lys408Gln)
|
rs1372877925
|
|
NM_000293.3(PHKB):c.1228T>C (p.Tyr410His)
|
rs2151701605
|
|
NM_000293.3(PHKB):c.1256A>G (p.Tyr419Cys)
|
|
|
NM_000293.3(PHKB):c.1317A>C (p.Lys439Asn)
|
|
|
NM_000293.3(PHKB):c.1319T>C (p.Leu440Pro)
|
|
|
NM_000293.3(PHKB):c.1348A>T (p.Ile450Phe)
|
|
|
NM_000293.3(PHKB):c.1376T>C (p.Ile459Thr)
|
|
|
NM_000293.3(PHKB):c.1391T>C (p.Ile464Thr)
|
rs1567326518
|
|
NM_000293.3(PHKB):c.1409A>G (p.Tyr470Cys)
|
|
|
NM_000293.3(PHKB):c.1429C>T (p.Arg477Cys)
|
|
|
NM_000293.3(PHKB):c.1458+3A>G
|
|
|
NM_000293.3(PHKB):c.1509C>G (p.Ser503Arg)
|
|
|
NM_000293.3(PHKB):c.1520A>G (p.Gln507Arg)
|
|
|
NM_000293.3(PHKB):c.1538A>G (p.Tyr513Cys)
|
|
|
NM_000293.3(PHKB):c.1548A>T (p.Gln516His)
|
|
|
NM_000293.3(PHKB):c.1584A>G (p.Ile528Met)
|
rs1973024428
|
|
NM_000293.3(PHKB):c.1616T>C (p.Leu539Ser)
|
|
|
NM_000293.3(PHKB):c.1690A>G (p.Lys564Glu)
|
|
|
NM_000293.3(PHKB):c.16G>A (p.Gly6Arg)
|
|
|
NM_000293.3(PHKB):c.1726T>G (p.Tyr576Asp)
|
|
|
NM_000293.3(PHKB):c.1748G>A (p.Ser583Asn)
|
rs1567341136
|
|
NM_000293.3(PHKB):c.1760T>C (p.Met587Thr)
|
rs886052022
|
|
NM_000293.3(PHKB):c.1784T>C (p.Ile595Thr)
|
|
|
NM_000293.3(PHKB):c.178T>G (p.Leu60Val)
|
|
|
NM_000293.3(PHKB):c.1802C>T (p.Ala601Val)
|
rs192099645
|
|
NM_000293.3(PHKB):c.1810T>G (p.Phe604Val)
|
|
|
NM_000293.3(PHKB):c.1841G>A (p.Arg614His)
|
|
|
NM_000293.3(PHKB):c.1861A>C (p.Ile621Leu)
|
|
|
NM_000293.3(PHKB):c.1864C>T (p.Arg622Trp)
|
|
|
NM_000293.3(PHKB):c.1876A>G (p.Ile626Val)
|
|
|
NM_000293.3(PHKB):c.1880+6T>C
|
|
|
NM_000293.3(PHKB):c.1888C>T (p.Arg630Trp)
|
|
|
NM_000293.3(PHKB):c.1900A>G (p.Ile634Val)
|
|
|
NM_000293.3(PHKB):c.1927A>G (p.Lys643Glu)
|
|
|
NM_000293.3(PHKB):c.1964G>A (p.Arg655His)
|
rs756158798
|
|
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys)
|
rs34667348
|
|
NM_000293.3(PHKB):c.1A>G (p.Met1Val)
|
|
|
NM_000293.3(PHKB):c.2033+5G>A
|
|
|
NM_000293.3(PHKB):c.205G>A (p.Gly69Ser)
|
|
|
NM_000293.3(PHKB):c.2060A>T (p.Glu687Val)
|
|
|
NM_000293.3(PHKB):c.2078A>G (p.His693Arg)
|
|
|
NM_000293.3(PHKB):c.2086G>A (p.Val696Ile)
|
|
|
NM_000293.3(PHKB):c.2105C>T (p.Thr702Ile)
|
|
|
NM_000293.3(PHKB):c.2107C>T (p.Pro703Ser)
|
|
|
NM_000293.3(PHKB):c.211T>G (p.Phe71Val)
|
|
|
NM_000293.3(PHKB):c.2126G>A (p.Gly709Glu)
|
|
|
NM_000293.3(PHKB):c.2176G>A (p.Glu726Lys)
|
|
|
NM_000293.3(PHKB):c.217A>G (p.Thr73Ala)
|
|
|
NM_000293.3(PHKB):c.2182C>T (p.Leu728Phe)
|
|
|
NM_000293.3(PHKB):c.2222C>A (p.Ala741Asp)
|
|
|
NM_000293.3(PHKB):c.2245A>G (p.Lys749Glu)
|
rs1597159344
|
|
NM_000293.3(PHKB):c.2261A>C (p.Asn754Thr)
|
|
|
NM_000293.3(PHKB):c.2281A>G (p.Thr761Ala)
|
|
|
NM_000293.3(PHKB):c.2291A>G (p.Asp764Gly)
|
rs1973484337
|
|
NM_000293.3(PHKB):c.2312G>A (p.Arg771Lys)
|
|
|
NM_000293.3(PHKB):c.2320G>C (p.Gly774Arg)
|
|
|
NM_000293.3(PHKB):c.2342C>T (p.Ala781Val)
|
|
|
NM_000293.3(PHKB):c.2344G>A (p.Val782Met)
|
|
|
NM_000293.3(PHKB):c.2398A>G (p.Ile800Val)
|
|
|
NM_000293.3(PHKB):c.239A>G (p.Gln80Arg)
|
rs886052020
|
|
NM_000293.3(PHKB):c.2427+1001A>G
|
|
|
NM_000293.3(PHKB):c.2427+1014G>A
|
rs2151739368
|
|
NM_000293.3(PHKB):c.2471A>T (p.Asn824Ile)
|
|
|
NM_000293.3(PHKB):c.2510A>G (p.Tyr837Cys)
|
|
|
NM_000293.3(PHKB):c.2534G>C (p.Arg845Thr)
|
|
|
NM_000293.3(PHKB):c.2555A>T (p.Glu852Val)
|
|
|
NM_000293.3(PHKB):c.2581A>G (p.Ile861Val)
|
|
|
NM_000293.3(PHKB):c.2588A>G (p.Asn863Ser)
|
|
|
NM_000293.3(PHKB):c.258C>G (p.Asp86Glu)
|
rs147357783
|
|
NM_000293.3(PHKB):c.25G>A (p.Ala9Thr)
|
|
|
NM_000293.3(PHKB):c.2624G>A (p.Arg875Gln)
|
|
|
NM_000293.3(PHKB):c.2657A>C (p.Glu886Ala)
|
|
|
NM_000293.3(PHKB):c.2677G>C (p.Asp893His)
|
rs2142102160
|
|
NM_000293.3(PHKB):c.2705T>G (p.Leu902Arg)
|
rs2142102195
|
|
NM_000293.3(PHKB):c.2715T>G (p.Ser905Arg)
|
rs886052023
|
|
NM_000293.3(PHKB):c.2755C>A (p.Gln919Lys)
|
|
|
NM_000293.3(PHKB):c.2782C>T (p.Arg928Cys)
|
rs766073838
|
|
NM_000293.3(PHKB):c.2783G>A (p.Arg928His)
|
rs556303193
|
|
NM_000293.3(PHKB):c.2791G>A (p.Asp931Asn)
|
rs373243537
|
|
NM_000293.3(PHKB):c.2813C>G (p.Pro938Arg)
|
rs2142106902
|
|
NM_000293.3(PHKB):c.2825A>G (p.Tyr942Cys)
|
|
|
NM_000293.3(PHKB):c.2832A>G (p.Arg944=)
|
rs1974096940
|
|
NM_000293.3(PHKB):c.2852G>T (p.Arg951Leu)
|
|
|
NM_000293.3(PHKB):c.2861A>G (p.Asn954Ser)
|
|
|
NM_000293.3(PHKB):c.2876C>T (p.Ala959Val)
|
|
|
NM_000293.3(PHKB):c.287C>G (p.Ala96Gly)
|
rs776773729
|
|
NM_000293.3(PHKB):c.2882A>G (p.Lys961Arg)
|
|
|
NM_000293.3(PHKB):c.2898A>G (p.Gln966=)
|
|
|
NM_000293.3(PHKB):c.290T>C (p.Leu97Ser)
|
|
|
NM_000293.3(PHKB):c.2977C>A (p.Pro993Thr)
|
|
|
NM_000293.3(PHKB):c.3003+6T>C
|
|
|
NM_000293.3(PHKB):c.3003G>A (p.Glu1001=)
|
|
|
NM_000293.3(PHKB):c.3016G>A (p.Val1006Ile)
|
rs1974189408
|
|
NM_000293.3(PHKB):c.3039C>A (p.Asn1013Lys)
|
rs151222947
|
|
NM_000293.3(PHKB):c.3046C>G (p.Leu1016Val)
|
|
|
NM_000293.3(PHKB):c.305+11G>A
|
rs368293023
|
|
NM_000293.3(PHKB):c.308G>A (p.Arg103Gln)
|
|
|
NM_000293.3(PHKB):c.308G>T (p.Arg103Leu)
|
|
|
NM_000293.3(PHKB):c.3098A>G (p.Asn1033Ser)
|
|
|
NM_000293.3(PHKB):c.3130G>A (p.Glu1044Lys)
|
rs375008974
|
|
NM_000293.3(PHKB):c.3131A>G (p.Glu1044Gly)
|
|
|
NM_000293.3(PHKB):c.3134T>C (p.Ile1045Thr)
|
|
|
NM_000293.3(PHKB):c.3141_3144del (p.Gln1048fs)
|
rs778012017
|
|
NM_000293.3(PHKB):c.3145-14_3145-7del
|
rs759760999
|
|
NM_000293.3(PHKB):c.3164A>G (p.Tyr1055Cys)
|
|
|
NM_000293.3(PHKB):c.3171_3172delinsAA (p.Pro1058Thr)
|
|
|
NM_000293.3(PHKB):c.320A>G (p.Asp107Gly)
|
|
|
NM_000293.3(PHKB):c.3215C>T (p.Ala1072Val)
|
|
|
NM_000293.3(PHKB):c.3221T>A (p.Met1074Lys)
|
|
|
NM_000293.3(PHKB):c.3224A>G (p.Asn1075Ser)
|
rs1405663204
|
|
NM_000293.3(PHKB):c.3242A>C (p.Glu1081Ala)
|
|
|
NM_000293.3(PHKB):c.3256A>G (p.Asn1086Asp)
|
|
|
NM_000293.3(PHKB):c.3257A>G (p.Asn1086Ser)
|
|
|
NM_000293.3(PHKB):c.3259G>A (p.Asp1087Asn)
|
rs764639480
|
|
NM_000293.3(PHKB):c.3266C>G (p.Pro1089Arg)
|
rs763764574
|
|
NM_000293.3(PHKB):c.3271C>G (p.Leu1091Val)
|
|
|
NM_000293.3(PHKB):c.3280del (p.Ter1094SerextTer?)
|
|
|
NM_000293.3(PHKB):c.337G>A (p.Glu113Lys)
|
|
|
NM_000293.3(PHKB):c.379T>A (p.Tyr127Asn)
|
|
|
NM_000293.3(PHKB):c.386A>G (p.Tyr129Cys)
|
rs774882825
|
|
NM_000293.3(PHKB):c.405+8_405+10del
|
rs2151644461
|
|
NM_000293.3(PHKB):c.406G>A (p.Val136Ile)
|
|
|
NM_000293.3(PHKB):c.431G>A (p.Arg144His)
|
rs768399607
|
|
NM_000293.3(PHKB):c.443G>A (p.Cys148Tyr)
|
|
|
NM_000293.3(PHKB):c.470C>T (p.Thr157Ile)
|
|
|
NM_000293.3(PHKB):c.505C>T (p.His169Tyr)
|
|
|
NM_000293.3(PHKB):c.530T>C (p.Leu177Pro)
|
rs770841932
|
|
NM_000293.3(PHKB):c.542A>G (p.Tyr181Cys)
|
|
|
NM_000293.3(PHKB):c.545T>G (p.Leu182Arg)
|
rs1970580865
|
|
NM_000293.3(PHKB):c.571C>G (p.Gln191Glu)
|
rs2151651796
|
|
NM_000293.3(PHKB):c.589G>A (p.Asp197Asn)
|
|
|
NM_000293.3(PHKB):c.594+4T>G
|
|
|
NM_000293.3(PHKB):c.62G>C (p.Arg21Pro)
|
|
|
NM_000293.3(PHKB):c.632G>A (p.Arg211Lys)
|
rs1971192807
|
|
NM_000293.3(PHKB):c.641G>A (p.Arg214His)
|
|
|
NM_000293.3(PHKB):c.646C>T (p.Pro216Ser)
|
|
|
NM_000293.3(PHKB):c.655G>C (p.Gly219Arg)
|
|
|
NM_000293.3(PHKB):c.661T>G (p.Trp221Gly)
|
|
|
NM_000293.3(PHKB):c.664G>C (p.Glu222Gln)
|
rs866677615
|
|
NM_000293.3(PHKB):c.680A>G (p.Tyr227Cys)
|
|
|
NM_000293.3(PHKB):c.698A>C (p.Glu233Ala)
|
|
|
NM_000293.3(PHKB):c.703C>T (p.His235Tyr)
|
rs886052021
|
|
NM_000293.3(PHKB):c.710+4A>G
|
|
|
NM_000293.3(PHKB):c.713C>T (p.Ser238Leu)
|
rs748242735
|
|
NM_000293.3(PHKB):c.716T>C (p.Val239Ala)
|
rs761032231
|
|
NM_000293.3(PHKB):c.731C>T (p.Ala244Val)
|
|
|
NM_000293.3(PHKB):c.733G>A (p.Ala245Thr)
|
|
|
NM_000293.3(PHKB):c.743C>G (p.Ala248Gly)
|
|
|
NM_000293.3(PHKB):c.76+4T>G
|
|
|
NM_000293.3(PHKB):c.80C>T (p.Ser27Leu)
|
|
|
NM_000293.3(PHKB):c.821G>A (p.Arg274His)
|
|
|
NM_000293.3(PHKB):c.842C>T (p.Ser281Leu)
|
|
|
NM_000293.3(PHKB):c.942C>A (p.Ser314Arg)
|
rs775139159
|
|
NM_000293.3(PHKB):c.995G>A (p.Arg332His)
|
|
|
NM_000293.3(PHKB):c.995G>C (p.Arg332Pro)
|
|
|
NM_000294.2(PHKG2):c.-118G>A
|
rs1361898035
|
|
NM_000294.2(PHKG2):c.-162C>T
|
rs938838075
|
|
NM_000294.3(PHKG2):c.-76G>C
|
rs2053281054
|
|
NM_000294.3(PHKG2):c.1077G>A (p.Gly359=)
|
rs747926397
|
|
NM_000294.3(PHKG2):c.112G>A (p.Val38Ile)
|
|
|
NM_000294.3(PHKG2):c.113T>A (p.Val38Asp)
|
|
|
NM_000294.3(PHKG2):c.116G>A (p.Arg39His)
|
|
|
NM_000294.3(PHKG2):c.1180G>A (p.Ala394Thr)
|
rs886051914
|
|
NM_000294.3(PHKG2):c.124G>A (p.Val42Ile)
|
|
|
NM_000294.3(PHKG2):c.158_160del (p.Lys53del)
|
rs2053338364
|
|
NM_000294.3(PHKG2):c.212G>A (p.Arg71Gln)
|
|
|
NM_000294.3(PHKG2):c.229G>A (p.Glu77Lys)
|
rs2053339231
|
|
NM_000294.3(PHKG2):c.235C>T (p.His79Tyr)
|
|
|
NM_000294.3(PHKG2):c.245G>A (p.Arg82His)
|
|
|
NM_000294.3(PHKG2):c.271+14C>T
|
rs572169140
|
|
NM_000294.3(PHKG2):c.271+6G>A
|
rs767677860
|
|
NM_000294.3(PHKG2):c.332G>A (p.Arg111Gln)
|
|
|
NM_000294.3(PHKG2):c.448G>A (p.Val150Met)
|
rs886051911
|
|
NM_000294.3(PHKG2):c.541G>A (p.Gly181Ser)
|
rs2053379091
|
|
NM_000294.3(PHKG2):c.556+11C>G
|
rs2053379816
|
|
NM_000294.3(PHKG2):c.635AGG[1] (p.Glu213del)
|
rs2151310152
|
|
NM_000294.3(PHKG2):c.639G>T (p.Glu213Asp)
|
|
|
NM_000294.3(PHKG2):c.646C>A (p.Leu216Ile)
|
rs2053424230
|
|
NM_000294.3(PHKG2):c.71A>G (p.Tyr24Cys)
|
rs1596677187
|
|
NM_000294.3(PHKG2):c.782C>G (p.Ser261Cys)
|
|
|
NM_000294.3(PHKG2):c.836G>A (p.Arg279His)
|
rs2151310526
|
|
NM_000294.3(PHKG2):c.886G>A (p.Gly296Ser)
|
|
|
NM_000294.3(PHKG2):c.907A>C (p.Thr303Pro)
|
rs780358808
|
|
NM_000294.3(PHKG2):c.908C>G (p.Thr303Ser)
|
|
|
NM_000294.3(PHKG2):c.913dup (p.Arg305fs)
|
rs2151310570
|
|
NM_000294.3(PHKG2):c.927+13G>A
|
rs371298131
|
|
NM_000294.3(PHKG2):c.928-9C>G
|
rs886051913
|
|
NM_000294.3(PHKG2):c.96-7C>G
|
rs898984695
|
|
NM_000294.3(PHKG2):c.986G>A (p.Arg329Gln)
|
|
|
NM_000298.6(PKLR):c.*13T>G
|
rs1052177
|
|
NM_000298.6(PKLR):c.*14C>G
|
rs8177994
|
|
NM_000298.6(PKLR):c.*351T>A
|
rs886045349
|
|
NM_000298.6(PKLR):c.*356T>C
|
rs1674470980
|
|
NM_000298.6(PKLR):c.*500C>T
|
rs1674463281
|
|
NM_000298.6(PKLR):c.1061A>G (p.Lys354Arg)
|
rs2148204121
|
|
NM_000298.6(PKLR):c.1117-4C>G
|
rs1572054195
|
|
NM_000298.6(PKLR):c.1510C>T (p.Arg504Cys)
|
|
|
NM_000298.6(PKLR):c.1575G>A (p.Trp525Ter)
|
rs2148198897
|
|
NM_000298.6(PKLR):c.188C>G (p.Ala63Gly)
|
rs886045353
|
|
NM_000298.6(PKLR):c.227T>C (p.Leu76Pro)
|
|
|
NM_000298.6(PKLR):c.284-9T>C
|
rs886045352
|
|
NM_000298.6(PKLR):c.376-11C>G
|
rs1647538523
|
|
NM_000298.6(PKLR):c.451G>A (p.Val151Met)
|
|
|
NM_000298.6(PKLR):c.491C>A (p.Thr164Asn)
|
rs1220156417
|
|
NM_000298.6(PKLR):c.505G>T (p.Gly169Trp)
|
rs199824528
|
|
NM_000298.6(PKLR):c.639G>T (p.Val213=)
|
rs750102822
|
|
NM_000298.6(PKLR):c.657_677del (p.Asp220_Leu226del)
|
|
|
NM_000298.6(PKLR):c.692T>C (p.Ile231Thr)
|
|
|
NM_000298.6(PKLR):c.694+43C>T
|
|
|
NM_000298.6(PKLR):c.943G>A (p.Glu315Lys)
|
rs1557959063
|
|
NM_000298.6(PKLR):c.945G>C (p.Glu315Asp)
|
rs2148204818
|
|
NM_000298.6(PKLR):c.966-12C>T
|
rs1188767860
|
|
NM_000298.6(PKLR):c.966G>T (p.Arg322Ser)
|
rs763964110
|
|
NM_000298.6(PKLR):c.972T>C (p.Asp324=)
|
rs8177974
|
|
NM_000308.4(CTSA):c.-1+6C>A
|
rs1164857603
|
|
NM_000308.4(CTSA):c.-15C>T
|
rs188792776
|
|
NM_000308.4(CTSA):c.-18G>C
|
rs1227051895
|
|
NM_000308.4(CTSA):c.-2A>C
|
|
|
NM_000308.4(CTSA):c.-41C>T
|
rs750301506
|
|
NM_000308.4(CTSA):c.1024A>G (p.Asn342Asp)
|
|
|
NM_000308.4(CTSA):c.1043A>C (p.Lys348Thr)
|
rs780430995
|
|
NM_000308.4(CTSA):c.1073A>C (p.Gln358Pro)
|
rs543752177
|
|
NM_000308.4(CTSA):c.1073A>G (p.Gln358Arg)
|
|
|
NM_000308.4(CTSA):c.1087A>G (p.Asn363Asp)
|
|
|
NM_000308.4(CTSA):c.1089-3C>A
|
rs764115103
|
|
NM_000308.4(CTSA):c.1089-4G>T
|
rs2145822510
|
|
NM_000308.4(CTSA):c.1096G>A (p.Val366Ile)
|
|
|
NM_000308.4(CTSA):c.1099A>G (p.Asn367Asp)
|
|
|
NM_000308.4(CTSA):c.1114C>T (p.Arg372Cys)
|
|
|
NM_000308.4(CTSA):c.115C>G (p.Pro39Ala)
|
rs1483740187
|
|
NM_000308.4(CTSA):c.1163A>G (p.Gln388Arg)
|
|
|
NM_000308.4(CTSA):c.1231T>C (p.Phe411Leu)
|
rs2145823811
|
|
NM_000308.4(CTSA):c.1234G>A (p.Val412Met)
|
|
|
NM_000308.4(CTSA):c.1247A>G (p.Asn416Ser)
|
rs2145823832
|
|
NM_000308.4(CTSA):c.1254+5G>T
|
|
|
NM_000308.4(CTSA):c.1254+6del
|
rs1433470100
|
|
NM_000308.4(CTSA):c.1255-3C>A
|
|
|
NM_000308.4(CTSA):c.1255-7G>A
|
|
|
NM_000308.4(CTSA):c.1267C>T (p.Arg423Cys)
|
|
|
NM_000308.4(CTSA):c.1359+6G>T
|
|
|
NM_000308.4(CTSA):c.1383C>T (p.Thr461=)
|
|
|
NM_000308.4(CTSA):c.176C>T (p.Ser59Phe)
|
|
|
NM_000308.4(CTSA):c.191A>C (p.Tyr64Ser)
|
|
|
NM_000308.4(CTSA):c.194+3C>T
|
rs1986958974
|
|
NM_000308.4(CTSA):c.195-12C>G
|
|
|
NM_000308.4(CTSA):c.195-7dup
|
rs780400265
|
|
NM_000308.4(CTSA):c.1A>G (p.Met1Val)
|
|
|
NM_000308.4(CTSA):c.233T>C (p.Val78Ala)
|
rs1055279552
|
|
NM_000308.4(CTSA):c.248A>G (p.Asn83Ser)
|
rs758876717
|
|
NM_000308.4(CTSA):c.254G>T (p.Gly85Val)
|
rs1360623902
|
|
NM_000308.4(CTSA):c.257C>T (p.Pro86Leu)
|
rs2145814296
|
|
NM_000308.4(CTSA):c.33GCT[10] (p.Leu18_Leu19dup)
|
rs72555383
|
|
NM_000308.4(CTSA):c.33GCT[11] (p.Leu17_Leu19dup)
|
rs72555383
|
|
NM_000308.4(CTSA):c.33GCT[4] (p.Leu16_Leu19del)
|
rs72555383
|
|
NM_000308.4(CTSA):c.33GCT[5] (p.Leu17_Leu19del)
|
rs72555383
|
|
NM_000308.4(CTSA):c.357+3A>G
|
rs1413013327
|
|
NM_000308.4(CTSA):c.358-5T>G
|
rs375266196
|
|
NM_000308.4(CTSA):c.359T>C (p.Ile120Thr)
|
rs1601139705
|
|
NM_000308.4(CTSA):c.380A>T (p.Glu127Val)
|
rs2145815136
|
|
NM_000308.4(CTSA):c.388G>C (p.Ala130Pro)
|
rs376642070
|
|
NM_000308.4(CTSA):c.425A>G (p.Tyr142Cys)
|
rs2145815279
|
|
NM_000308.4(CTSA):c.428C>T (p.Ala143Val)
|
|
|
NM_000308.4(CTSA):c.44T>A (p.Leu15Gln)
|
|
|
NM_000308.4(CTSA):c.467C>T (p.Ala156Val)
|
|
|
NM_000308.4(CTSA):c.484C>T (p.Arg162Cys)
|
|
|
NM_000308.4(CTSA):c.51_54delinsC (p.Leu19del)
|
rs886039898
|
|
NM_000308.4(CTSA):c.535T>C (p.Tyr179His)
|
|
|
NM_000308.4(CTSA):c.54G>C (p.Leu18=)
|
rs181943893
|
|
NM_000308.4(CTSA):c.553C>A (p.Pro185Thr)
|
|
|
NM_000308.4(CTSA):c.565G>A (p.Val189Met)
|
|
|
NM_000308.4(CTSA):c.574A>C (p.Met192Leu)
|
rs1987042851
|
|
NM_000308.4(CTSA):c.594C>A (p.Asn198Lys)
|
rs147908449
|
|
NM_000308.4(CTSA):c.632A>T (p.Tyr211Phe)
|
|
|
NM_000308.4(CTSA):c.67G>A (p.Ala23Thr)
|
rs1986939703
|
|
NM_000308.4(CTSA):c.736T>C (p.Cys246Arg)
|
rs1177744429
|
|
NM_000308.4(CTSA):c.753C>A (p.Asn251Lys)
|
|
|
NM_000308.4(CTSA):c.755A>G (p.Lys252Arg)
|
rs1412365614
|
|
NM_000308.4(CTSA):c.768C>A (p.Cys256Ter)
|
rs767712946
|
|
NM_000308.4(CTSA):c.772A>G (p.Thr258Ala)
|
|
|
NM_000308.4(CTSA):c.799G>A (p.Val267Met)
|
rs1327727683
|
|
NM_000308.4(CTSA):c.830T>C (p.Leu277Pro)
|
rs1987145050
|
|
NM_000308.4(CTSA):c.847G>A (p.Gly283Arg)
|
|
|
NM_000308.4(CTSA):c.848G>C (p.Gly283Ala)
|
|
|
NM_000308.4(CTSA):c.874G>C (p.Glu292Gln)
|
rs771968194
|
|
NM_000308.4(CTSA):c.892G>T (p.Val298Phe)
|
|
|
NM_000308.4(CTSA):c.911T>C (p.Ile304Thr)
|
|
|
NM_000308.4(CTSA):c.919C>T (p.Arg307Cys)
|
rs2145819152
|
|
NM_000308.4(CTSA):c.91G>A (p.Asp31Asn)
|
rs961795659
|
|
NM_000308.4(CTSA):c.931A>C (p.Lys311Gln)
|
|
|
NM_000308.4(CTSA):c.935G>A (p.Arg312Gln)
|
|
|
NM_000308.4(CTSA):c.948G>A (p.Gln316=)
|
rs2145819241
|
|
NM_000308.4(CTSA):c.967G>A (p.Asp323Asn)
|
|
|
NM_000308.4(CTSA):c.97G>A (p.Asp33Asn)
|
rs2145813484
|
|
NM_000308.4(CTSA):c.985C>A (p.Pro329Thr)
|
rs746428492
|
|
NM_000308.4(CTSA):c.985C>G (p.Pro329Ala)
|
rs746428492
|
|
NM_000336.3(SCNN1B):c.1513C>T (p.Arg505Cys)
|
|
|
NM_000340.1(SLC2A2):c.-238A>G
|
rs551728717
|
|
NM_000340.2(SLC2A2):c.*1164T>C
|
rs886058171
|
|
NM_000340.2(SLC2A2):c.*1201T>C
|
rs1219326448
|
|
NM_000340.2(SLC2A2):c.*1531A>G
|
rs958370410
|
|
NM_000340.2(SLC2A2):c.*254T>G
|
rs910326054
|
|
NM_000340.2(SLC2A2):c.*325del
|
rs886058174
|
|
NM_000340.2(SLC2A2):c.*607del
|
rs563605045
|
|
NM_000340.2(SLC2A2):c.*698T>A
|
rs1715118520
|
|
NM_000340.2(SLC2A2):c.*7_*8dup (p.Ter525=)
|
rs573575421
|
|
NM_000340.2(SLC2A2):c.*83A>T
|
rs993283861
|
|
NM_000340.2(SLC2A2):c.*8del (p.Ter525=)
|
rs573575421
|
|
NM_000340.2(SLC2A2):c.*94del
|
rs886058175
|
|
NM_000340.2(SLC2A2):c.100C>A (p.Pro34Thr)
|
|
|
NM_000340.2(SLC2A2):c.1118T>C (p.Met373Thr)
|
rs1715228241
|
|
NM_000340.2(SLC2A2):c.112ATA[1] (p.Ile39del)
|
rs772999215
|
|
NM_000340.2(SLC2A2):c.1142T>A (p.Ile381Asn)
|
|
|
NM_000340.2(SLC2A2):c.114A>G (p.Ile38Met)
|
rs2108257085
|
|
NM_000340.2(SLC2A2):c.1172A>G (p.Asn391Ser)
|
|
|
NM_000340.2(SLC2A2):c.1191T>G (p.Ser397Arg)
|
rs2108233305
|
|
NM_000340.2(SLC2A2):c.1205T>C (p.Ile402Thr)
|
|
|
NM_000340.2(SLC2A2):c.1250C>A (p.Pro417Gln)
|
|
|
NM_000340.2(SLC2A2):c.1267G>T (p.Val423Leu)
|
|
|
NM_000340.2(SLC2A2):c.1298C>T (p.Pro433Leu)
|
rs2108233104
|
|
NM_000340.2(SLC2A2):c.130C>T (p.His44Tyr)
|
|
|
NM_000340.2(SLC2A2):c.1349T>C (p.Val450Ala)
|
|
|
NM_000340.2(SLC2A2):c.134T>A (p.Val45Asp)
|
|
|
NM_000340.2(SLC2A2):c.1373C>T (p.Ala458Val)
|
|
|
NM_000340.2(SLC2A2):c.1373_1374+2dup
|
rs2108232881
|
|
NM_000340.2(SLC2A2):c.1375-20T>G
|
|
|
NM_000340.2(SLC2A2):c.1403T>G (p.Leu468Arg)
|
|
|
NM_000340.2(SLC2A2):c.1471T>A (p.Ser491Thr)
|
|
|
NM_000340.2(SLC2A2):c.1489_1490delinsAA (p.Ala497Lys)
|
rs1560031152
|
|
NM_000340.2(SLC2A2):c.1490C>T (p.Ala497Val)
|
|
|
NM_000340.2(SLC2A2):c.15+6G>A
|
rs886058177
|
|
NM_000340.2(SLC2A2):c.1549T>C (p.Phe517Leu)
|
rs2108232309
|
|
NM_000340.2(SLC2A2):c.195T>A (p.Asp65Glu)
|
|
|
NM_000340.2(SLC2A2):c.20C>A (p.Thr7Asn)
|
|
|
NM_000340.2(SLC2A2):c.220A>G (p.Met74Val)
|
|
|
NM_000340.2(SLC2A2):c.226C>G (p.Pro76Ala)
|
|
|
NM_000340.2(SLC2A2):c.355G>A (p.Gly119Arg)
|
|
|
NM_000340.2(SLC2A2):c.372-4T>C
|
rs769607196
|
|
NM_000340.2(SLC2A2):c.379G>T (p.Ala127Ser)
|
rs1576833940
|
|
NM_000340.2(SLC2A2):c.409G>C (p.Val137Leu)
|
|
|
NM_000340.2(SLC2A2):c.415G>A (p.Ala139Thr)
|
|
|
NM_000340.2(SLC2A2):c.457_462del (p.Leu153_Ile154del)
|
rs763620441
|
|
NM_000340.2(SLC2A2):c.469G>C (p.Gly157Arg)
|
rs750836049
|
|
NM_000340.2(SLC2A2):c.482C>T (p.Ser161Leu)
|
|
|
NM_000340.2(SLC2A2):c.491_493del (p.Tyr164del)
|
|
|
NM_000340.2(SLC2A2):c.496+6T>A
|
|
|
NM_000340.2(SLC2A2):c.521T>C (p.Met174Thr)
|
rs1293130515
|
|
NM_000340.2(SLC2A2):c.529G>A (p.Gly177Ser)
|
|
|
NM_000340.2(SLC2A2):c.559G>A (p.Ala187Thr)
|
rs200213178
|
|
NM_000340.2(SLC2A2):c.589G>C (p.Val197Leu)
|
rs121909741
|
|
NM_000340.2(SLC2A2):c.58G>T (p.Gly20Cys)
|
rs2108262047
|
|
NM_000340.2(SLC2A2):c.593C>T (p.Thr198Met)
|
rs149460434
|
|
NM_000340.2(SLC2A2):c.639C>T (p.Gly213=)
|
rs886058176
|
|
NM_000340.2(SLC2A2):c.733T>C (p.Tyr245His)
|
|
|
NM_000340.2(SLC2A2):c.739T>C (p.Tyr247His)
|
|
|
NM_000340.2(SLC2A2):c.73G>A (p.Gly25Arg)
|
|
|
NM_000340.2(SLC2A2):c.797ATG[2] (p.Asp268del)
|
rs774721090
|
|
NM_000340.2(SLC2A2):c.80A>T (p.Asp27Val)
|
rs2108262016
|
|
NM_000340.2(SLC2A2):c.833A>C (p.Lys278Thr)
|
|
|
NM_000340.2(SLC2A2):c.841G>A (p.Glu281Lys)
|
|
|
NM_000340.2(SLC2A2):c.872T>A (p.Ile291Lys)
|
|
|
NM_000340.2(SLC2A2):c.881T>A (p.Leu294His)
|
|
|
NM_000340.2(SLC2A2):c.902G>T (p.Arg301Leu)
|
|
|
NM_000340.2(SLC2A2):c.914T>C (p.Leu305Pro)
|
|
|
NM_000340.2(SLC2A2):c.97G>A (p.Ala33Thr)
|
|
|
NM_000343.3(SLC5A1):c.-23G>A
|
rs886057400
|
|
NM_000343.4(SLC5A1):c.*1251G>T
|
rs886057411
|
|
NM_000343.4(SLC5A1):c.*1346A>G
|
rs886057412
|
|
NM_000343.4(SLC5A1):c.*1522T>G
|
rs2094057473
|
|
NM_000343.4(SLC5A1):c.*155C>T
|
rs886057405
|
|
NM_000343.4(SLC5A1):c.*183G>C
|
rs886057406
|
|
NM_000343.4(SLC5A1):c.*2352A>T
|
rs2094059162
|
|
NM_000343.4(SLC5A1):c.*2411C>G
|
rs2094059315
|
|
NM_000343.4(SLC5A1):c.*2612T>C
|
rs2094059794
|
|
NM_000343.4(SLC5A1):c.*510G>A
|
rs886057408
|
|
NM_000343.4(SLC5A1):c.*715del
|
rs777276040
|
|
NM_000343.4(SLC5A1):c.-11dup
|
rs541991193
|
|
NM_000343.4(SLC5A1):c.1006C>T (p.Arg336Cys)
|
rs768831308
|
|
NM_000343.4(SLC5A1):c.1030G>T (p.Ala344Ser)
|
rs2149492818
|
|
NM_000343.4(SLC5A1):c.1088A>G (p.Asn363Ser)
|
|
|
NM_000343.4(SLC5A1):c.1097A>G (p.Tyr366Cys)
|
rs2149492851
|
|
NM_000343.4(SLC5A1):c.1129+6_1129+7delinsTG
|
rs2149492872
|
|
NM_000343.4(SLC5A1):c.1171A>C (p.Met391Leu)
|
rs1359279768
|
|
NM_000343.4(SLC5A1):c.1202C>T (p.Ala401Val)
|
rs2149494224
|
|
NM_000343.4(SLC5A1):c.121G>A (p.Ala41Thr)
|
rs770382788
|
|
NM_000343.4(SLC5A1):c.1230C>G (p.Tyr410Ter)
|
rs200206252
|
|
NM_000343.4(SLC5A1):c.1241G>A (p.Arg414His)
|
rs199573966
|
|
NM_000343.4(SLC5A1):c.1256A>T (p.Glu419Val)
|
|
|
NM_000343.4(SLC5A1):c.1281G>T (p.Arg427Ser)
|
|
|
NM_000343.4(SLC5A1):c.1315G>A (p.Ala439Thr)
|
|
|
NM_000343.4(SLC5A1):c.1339G>A (p.Ala447Thr)
|
|
|
NM_000343.4(SLC5A1):c.1371G>C (p.Gln457His)
|
rs2149496672
|
|
NM_000343.4(SLC5A1):c.1390G>A (p.Gly464Arg)
|
rs886057402
|
|
NM_000343.4(SLC5A1):c.1403C>A (p.Ala468Glu)
|
rs200406921
|
|
NM_000343.4(SLC5A1):c.1403C>T (p.Ala468Val)
|
|
|
NM_000343.4(SLC5A1):c.1404G>A (p.Ala468=)
|
rs767459349
|
|
NM_000343.4(SLC5A1):c.1427T>G (p.Phe476Cys)
|
rs2094032479
|
|
NM_000343.4(SLC5A1):c.1431G>T (p.Trp477Cys)
|
|
|
NM_000343.4(SLC5A1):c.1449A>G (p.Pro483=)
|
|
|
NM_000343.4(SLC5A1):c.1450G>A (p.Gly484Arg)
|
rs886057403
|
|
NM_000343.4(SLC5A1):c.155G>A (p.Arg52His)
|
rs773674977
|
|
NM_000343.4(SLC5A1):c.1570G>A (p.Val524Met)
|
rs2149497555
|
|
NM_000343.4(SLC5A1):c.158G>A (p.Gly53Glu)
|
rs1334755356
|
|
NM_000343.4(SLC5A1):c.1628T>G (p.Val543Gly)
|
|
|
NM_000343.4(SLC5A1):c.164T>C (p.Val55Ala)
|
rs2093943146
|
|
NM_000343.4(SLC5A1):c.1672C>T (p.Arg558Cys)
|
|
|
NM_000343.4(SLC5A1):c.1691G>A (p.Arg564His)
|
|
|
NM_000343.4(SLC5A1):c.1697G>A (p.Ser566Asn)
|
rs1390196310
|
|
NM_000343.4(SLC5A1):c.16T>C (p.Trp6Arg)
|
|
|
NM_000343.4(SLC5A1):c.1711A>G (p.Ile571Val)
|
|
|
NM_000343.4(SLC5A1):c.1724C>A (p.Ala575Glu)
|
rs185883847
|
|
NM_000343.4(SLC5A1):c.1730A>C (p.Glu577Ala)
|
rs2094042528
|
|
NM_000343.4(SLC5A1):c.1732G>A (p.Glu578Lys)
|
rs1396167742
|
|
NM_000343.4(SLC5A1):c.1744G>A (p.Glu582Lys)
|
|
|
NM_000343.4(SLC5A1):c.1772-5C>A
|
rs886057404
|
|
NM_000343.4(SLC5A1):c.1814C>T (p.Ala605Val)
|
rs2094053423
|
|
NM_000343.4(SLC5A1):c.182C>A (p.Ala61Glu)
|
rs1277952619
|
|
NM_000343.4(SLC5A1):c.1886AGATGA[3] (p.Met632_Thr633insLysMet)
|
|
|
NM_000343.4(SLC5A1):c.1889T>A (p.Met630Lys)
|
|
|
NM_000343.4(SLC5A1):c.1915C>G (p.Pro639Ala)
|
rs200684333
|
|
NM_000343.4(SLC5A1):c.1915C>T (p.Pro639Ser)
|
rs200684333
|
|
NM_000343.4(SLC5A1):c.194T>C (p.Met65Thr)
|
|
|
NM_000343.4(SLC5A1):c.196G>A (p.Val66Met)
|
|
|
NM_000343.4(SLC5A1):c.1993T>C (p.Ter665Arg)
|
rs1382025396
|
|
NM_000343.4(SLC5A1):c.1994G>A (p.Ter665=)
|
|
|
NM_000343.4(SLC5A1):c.218C>T (p.Ser73Phe)
|
rs762929535
|
|
NM_000343.4(SLC5A1):c.265G>A (p.Gly89Arg)
|
|
|
NM_000343.4(SLC5A1):c.272G>C (p.Gly91Ala)
|
rs2149487772
|
|
NM_000343.4(SLC5A1):c.277G>A (p.Ala93Thr)
|
|
|
NM_000343.4(SLC5A1):c.307T>G (p.Trp103Gly)
|
|
|
NM_000343.4(SLC5A1):c.323T>C (p.Leu108Ser)
|
|
|
NM_000343.4(SLC5A1):c.372G>A (p.Gly124=)
|
|
|
NM_000343.4(SLC5A1):c.419G>A (p.Arg140Gln)
|
|
|
NM_000343.4(SLC5A1):c.41C>T (p.Thr14Ile)
|
rs2149481647
|
|
NM_000343.4(SLC5A1):c.478-11T>A
|
|
|
NM_000343.4(SLC5A1):c.536T>C (p.Leu179Ser)
|
rs2149491664
|
|
NM_000343.4(SLC5A1):c.559A>G (p.Ile187Val)
|
|
|
NM_000343.4(SLC5A1):c.581C>T (p.Thr194Ile)
|
|
|
NM_000343.4(SLC5A1):c.583+3G>A
|
|
|
NM_000343.4(SLC5A1):c.593C>T (p.Ala198Val)
|
|
|
NM_000343.4(SLC5A1):c.596C>T (p.Ala199Val)
|
|
|
NM_000343.4(SLC5A1):c.685_696del (p.Tyr229_Phe232del)
|
rs1555965813
|
|
NM_000343.4(SLC5A1):c.697A>G (p.Met233Val)
|
|
|
NM_000343.4(SLC5A1):c.759A>T (p.Glu253Asp)
|
|
|
NM_000343.4(SLC5A1):c.760A>G (p.Lys254Glu)
|
rs145740433
|
|
NM_000343.4(SLC5A1):c.812C>T (p.Thr271Met)
|
|
|
NM_000343.4(SLC5A1):c.839T>C (p.Ile280Thr)
|
rs2149492356
|
|
NM_000343.4(SLC5A1):c.862T>G (p.Leu288Val)
|
rs139037092
|
|
NM_000343.4(SLC5A1):c.885+5C>T
|
rs199536443
|
|
NM_000343.4(SLC5A1):c.898C>T (p.Arg300Cys)
|
rs201079555
|
|
NM_000343.4(SLC5A1):c.915_917del (p.Lys305del)
|
|
|
NM_000343.4(SLC5A1):c.9_11dup (p.Ser4dup)
|
rs775681808
|
|
NM_000352.6(ABCC8):c.*93T>A
|
rs886048046
|
|
NM_000352.6(ABCC8):c.1012-2A>G
|
rs1554938866
|
|
NM_000352.6(ABCC8):c.1012-6C>T
|
rs764178736
|
|
NM_000352.6(ABCC8):c.1012-7C>G
|
|
|
NM_000352.6(ABCC8):c.1024G>A (p.Gly342Arg)
|
rs763028380
|
|
NM_000352.6(ABCC8):c.1024G>T (p.Gly342Trp)
|
rs763028380
|
|
NM_000352.6(ABCC8):c.106C>T (p.His36Tyr)
|
|
|
NM_000352.6(ABCC8):c.107A>G (p.His36Arg)
|
|
|
NM_000352.6(ABCC8):c.1096C>T (p.Leu366Phe)
|
rs1956875186
|
|
NM_000352.6(ABCC8):c.1106A>G (p.Gln369Arg)
|
rs756808492
|
|
NM_000352.6(ABCC8):c.1112C>T (p.Thr371Ile)
|
|
|
NM_000352.6(ABCC8):c.1127C>T (p.Ser376Phe)
|
rs777461294
|
|
NM_000352.6(ABCC8):c.115_123del (p.Leu39_Phe41del)
|
rs1554949238
|
|
NM_000352.6(ABCC8):c.1178C>T (p.Thr393Ile)
|
rs377104807
|
|
NM_000352.6(ABCC8):c.119T>G (p.Leu40Arg)
|
rs1554949242
|
|
NM_000352.6(ABCC8):c.1215C>T (p.Ser405=)
|
rs1956635063
|
|
NM_000352.6(ABCC8):c.1220T>A (p.Leu407Gln)
|
rs1564955834
|
|
NM_000352.6(ABCC8):c.1243G>A (p.Gly415Arg)
|
rs1564955779
|
|
NM_000352.6(ABCC8):c.1261G>A (p.Val421Ile)
|
rs1591846104
|
|
NM_000352.6(ABCC8):c.1269C>A (p.Ile423=)
|
rs370169777
|
|
NM_000352.6(ABCC8):c.1269C>T (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.1296C>T (p.Phe432=)
|
rs1591845922
|
|
NM_000352.6(ABCC8):c.1332+17G>C
|
rs193922395
|
|
NM_000352.6(ABCC8):c.1332+3A>G
|
|
|
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.1416T>C (p.Pro472=)
|
rs1391155490
|
|
NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg)
|
rs1591834223
|
|
NM_000352.6(ABCC8):c.1433C>G (p.Ala478Gly)
|
rs1956392066
|
|
NM_000352.6(ABCC8):c.1453C>A (p.Gln485Lys)
|
rs1956391008
|
|
NM_000352.6(ABCC8):c.145A>G (p.Ile49Val)
|
rs1554949196
|
|
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.1468-52G>A
|
|
|
NM_000352.6(ABCC8):c.148+2T>C
|
rs1554949176
|
|
NM_000352.6(ABCC8):c.148+4A>T
|
rs763159607
|
|
NM_000352.6(ABCC8):c.149-1G>A
|
rs1554948445
|
|
NM_000352.6(ABCC8):c.152G>A (p.Trp51Ter)
|
rs1591928988
|
|
NM_000352.6(ABCC8):c.1548C>T (p.Asn516=)
|
rs776590557
|
|
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.1616A>G (p.Tyr539Cys)
|
rs193922397
|
|
NM_000352.6(ABCC8):c.1617T>A (p.Tyr539Ter)
|
rs1591832463
|
|
NM_000352.6(ABCC8):c.1630+5G>A
|
rs1956364777
|
|
NM_000352.6(ABCC8):c.1630+5G>T
|
rs1956364777
|
|
NM_000352.6(ABCC8):c.1634del (p.Phe545fs)
|
rs1260178539
|
|
NM_000352.6(ABCC8):c.1672-20A>G
|
rs931436550
|
|
NM_000352.6(ABCC8):c.1672-473T>G
|
|
|
NM_000352.6(ABCC8):c.1687G>A (p.Val563Ile)
|
rs1554926621
|
|
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+2_1817+6del
|
rs1554926465
|
|
NM_000352.6(ABCC8):c.1818-7del
|
rs1955709311
|
|
NM_000352.6(ABCC8):c.1849G>A (p.Ala617Thr)
|
rs1955706366
|
|
NM_000352.6(ABCC8):c.188G>T (p.Ser63Ile)
|
|
|
NM_000352.6(ABCC8):c.1913A>C (p.Tyr638Ser)
|
|
|
NM_000352.6(ABCC8):c.1938G>A (p.Val646=)
|
rs1591797830
|
|
NM_000352.6(ABCC8):c.2040+100G>T
|
rs948658520
|
|
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.2057T>A (p.Phe686Tyr)
|
rs1159625966
|
|
NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly)
|
rs1955658642
|
|
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.2116+1G>A
|
rs1554924540
|
|
NM_000352.6(ABCC8):c.2117-10C>A
|
rs886048053
|
|
NM_000352.6(ABCC8):c.2117-10C>T
|
rs886048053
|
|
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.2146G>A (p.Gly716Ser)
|
rs1591794677
|
|
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.2235C>A (p.Ser745Arg)
|
rs200708414
|
|
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.2259A>G (p.Pro753=)
|
rs1955020359
|
|
NM_000352.6(ABCC8):c.2277_2280del (p.Asp760fs)
|
rs1955018104
|
|
NM_000352.6(ABCC8):c.2285A>G (p.Asp762Gly)
|
rs771942551
|
|
NM_000352.6(ABCC8):c.2292-1G>A
|
rs1564905676
|
|
NM_000352.6(ABCC8):c.2295_2307delinsAA (p.Arg766fs)
|
rs1554917411
|
|
NM_000352.6(ABCC8):c.234C>A (p.Thr78=)
|
rs1591928554
|
|
NM_000352.6(ABCC8):c.2350GAG[1] (p.Glu785del)
|
|
|
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)
|
rs797045208
|
|
NM_000352.6(ABCC8):c.2427A>G (p.Pro809=)
|
rs886038286
|
|
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.2539G>C (p.Ala847Pro)
|
rs561593131
|
|
NM_000352.6(ABCC8):c.2557G>A (p.Asp853Asn)
|
rs1954765607
|
|
NM_000352.6(ABCC8):c.2574T>C (p.Ala858=)
|
rs1954764675
|
|
NM_000352.6(ABCC8):c.259_262del (p.Cys87fs)
|
rs2133728495
|
|
NM_000352.6(ABCC8):c.2648T>G (p.Val883Gly)
|
rs1954760501
|
|
NM_000352.6(ABCC8):c.2683dup (p.His895fs)
|
rs1057517019
|
|
NM_000352.6(ABCC8):c.2684A>T (p.His895Leu)
|
|
|
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.2694+9del
|
rs1564898910
|
|
NM_000352.6(ABCC8):c.2695-2A>T
|
rs863225278
|
|
NM_000352.6(ABCC8):c.2699T>C (p.Ile900Thr)
|
|
|
NM_000352.6(ABCC8):c.2709G>A (p.Lys903=)
|
rs1591749128
|
|
NM_000352.6(ABCC8):c.2764C>T (p.Gln922Ter)
|
rs1954644972
|
|
NM_000352.6(ABCC8):c.279C>T (p.Ile93=)
|
rs550990673
|
|
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.2858A>G (p.Gln953Arg)
|
rs761960758
|
|
NM_000352.6(ABCC8):c.2869C>G (p.Arg957Gly)
|
rs761160857
|
|
NM_000352.6(ABCC8):c.2880C>T (p.Ser960=)
|
rs774603418
|
|
NM_000352.6(ABCC8):c.290+2T>C
|
rs1554948310
|
|
NM_000352.6(ABCC8):c.291-2A>G
|
rs786204695
|
|
NM_000352.6(ABCC8):c.2912A>T (p.Glu971Val)
|
rs1431503235
|
|
NM_000352.6(ABCC8):c.2921-1G>A
|
rs772682942
|
|
NM_000352.6(ABCC8):c.2929G>A (p.Ala977Thr)
|
rs568576108
|
|
NM_000352.6(ABCC8):c.2960C>T (p.Ser987Phe)
|
|
|
NM_000352.6(ABCC8):c.2971C>T (p.Gln991Ter)
|
rs1954577994
|
|
NM_000352.6(ABCC8):c.2975G>C (p.Arg992Pro)
|
rs201499958
|
|
NM_000352.6(ABCC8):c.297C>A (p.Thr99=)
|
rs906180828
|
|
NM_000352.6(ABCC8):c.2993G>C (p.Arg998Pro)
|
rs776248166
|
|
NM_000352.6(ABCC8):c.3018C>A (p.Ser1006=)
|
rs149279510
|
|
NM_000352.6(ABCC8):c.3076C>T (p.Leu1026=)
|
rs1354438772
|
|
NM_000352.6(ABCC8):c.3081G>A (p.Val1027=)
|
rs745860035
|
|
NM_000352.6(ABCC8):c.3082del (p.Ala1028fs)
|
rs1954568421
|
|
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.3129G>A (p.Leu1043=)
|
rs1591744434
|
|
NM_000352.6(ABCC8):c.3151_3162+15del
|
rs1554912381
|
|
NM_000352.6(ABCC8):c.3172C>T (p.Leu1058Phe)
|
rs1954549447
|
|
NM_000352.6(ABCC8):c.3174C>T (p.Leu1058=)
|
rs778240883
|
|
NM_000352.6(ABCC8):c.3243_3251del (p.Ser1082_Thr1084del)
|
rs1271445653
|
|
NM_000352.6(ABCC8):c.3290A>C (p.His1097Pro)
|
rs1352191146
|
|
NM_000352.6(ABCC8):c.3318A>C (p.Leu1106=)
|
rs750430789
|
|
NM_000352.6(ABCC8):c.3330-13G>A
|
|
|
NM_000352.6(ABCC8):c.3339G>A (p.Glu1113=)
|
rs757191246
|
|
NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala)
|
rs1564890766
|
|
NM_000352.6(ABCC8):c.3378del (p.Asp1127fs)
|
rs1954474111
|
|
NM_000352.6(ABCC8):c.3398A>G (p.Gln1133Arg)
|
|
|
NM_000352.6(ABCC8):c.3399+1G>A
|
rs1554911369
|
|
NM_000352.6(ABCC8):c.3399+6G>A
|
rs1954472209
|
|
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.3448_3449del (p.Val1150fs)
|
rs1263082097
|
|
NM_000352.6(ABCC8):c.3454G>A (p.Ala1152Thr)
|
rs1954422814
|
|
NM_000352.6(ABCC8):c.3470_3472del (p.Ser1157del)
|
rs1554910736
|
|
NM_000352.6(ABCC8):c.3502T>C (p.Leu1168=)
|
rs565968675
|
|
NM_000352.6(ABCC8):c.3513C>A (p.Ala1171=)
|
rs778961697
|
|
NM_000352.6(ABCC8):c.3516C>A (p.Ile1172=)
|
rs142155036
|
|
NM_000352.6(ABCC8):c.3525C>G (p.Tyr1175Ter)
|
rs1057516439
|
|
NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys)
|
rs193922399
|
|
NM_000352.6(ABCC8):c.3553_3557dup (p.Arg1186fs)
|
rs1554910621
|
|
NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr)
|
rs193929369
|
|
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.3573G>A (p.Leu1191=)
|
rs1038735802
|
|
NM_000352.6(ABCC8):c.35C>T (p.Ser12Leu)
|
rs1283621955
|
|
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.3650+9C>A
|
rs1591730796
|
|
NM_000352.6(ABCC8):c.3651-4C>G
|
rs1954058406
|
|
NM_000352.6(ABCC8):c.3681C>G (p.Leu1227=)
|
rs370636988
|
|
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.3736T>C (p.Trp1246Arg)
|
rs1554906790
|
|
NM_000352.6(ABCC8):c.3753+10A>G
|
rs1591718533
|
|
NM_000352.6(ABCC8):c.3753+1G>A
|
rs1554906786
|
|
NM_000352.6(ABCC8):c.3753+2C>T
|
rs760196276
|
|
NM_000352.6(ABCC8):c.3754-1G>A
|
rs1554906449
|
|
NM_000352.6(ABCC8):c.3754-2A>G
|
rs1554906450
|
|
NM_000352.6(ABCC8):c.3754-6C>T
|
rs1591717230
|
|
NM_000352.6(ABCC8):c.3755A>G (p.Glu1252Gly)
|
rs797045210
|
|
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.3788C>A (p.Ala1263Glu)
|
rs772094360
|
|
NM_000352.6(ABCC8):c.3817A>T (p.Arg1273Trp)
|
rs1554906389
|
|
NM_000352.6(ABCC8):c.3872_3873dup (p.Asn1292fs)
|
rs1953988179
|
|
NM_000352.6(ABCC8):c.3875A>G (p.Asn1292Ser)
|
rs763104338
|
|
NM_000352.6(ABCC8):c.3905C>T (p.Ala1302Val)
|
rs1340859533
|
|
NM_000352.6(ABCC8):c.3928G>T (p.Ala1310Ser)
|
|
|
NM_000352.6(ABCC8):c.3988+19G>C
|
rs576340695
|
|
NM_000352.6(ABCC8):c.3989-3C>G
|
rs1324242791
|
|
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.4043A>G (p.Asn1348Ser)
|
rs1554905775
|
|
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.4072_4073delinsT (p.Lys1358fs)
|
rs1057516890
|
|
NM_000352.6(ABCC8):c.4076C>T (p.Pro1359Leu)
|
|
|
NM_000352.6(ABCC8):c.4078G>A (p.Val1360Met)
|
rs1953962707
|
|
NM_000352.6(ABCC8):c.4089C>T (p.His1363=)
|
rs1211875269
|
|
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.4115AGA[1] (p.Lys1373del)
|
rs1554905655
|
|
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.4124G>C (p.Gly1375Ala)
|
rs1953901271
|
|
NM_000352.6(ABCC8):c.413-2A>G
|
rs1057517015
|
|
NM_000352.6(ABCC8):c.413-5G>A
|
rs186946111
|
|
NM_000352.6(ABCC8):c.4132G>C (p.Gly1378Arg)
|
rs925231098
|
|
NM_000352.6(ABCC8):c.4138_4140delinsCA (p.Thr1380fs)
|
rs1953899672
|
|
NM_000352.6(ABCC8):c.4140C>T (p.Thr1380=)
|
rs574684578
|
|
NM_000352.6(ABCC8):c.4151_4152del (p.Lys1384fs)
|
rs1554905145
|
|
NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del)
|
rs387906408
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
NM_000352.6(ABCC8):c.4171T>G (p.Phe1391Val)
|
rs1953897394
|
|
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.4203C>T (p.His1401=)
|
rs1953885229
|
|
NM_000352.6(ABCC8):c.421G>A (p.Val141Met)
|
|
|
NM_000352.6(ABCC8):c.4239G>A (p.Pro1413=)
|
rs373478721
|
|
NM_000352.6(ABCC8):c.4253G>T (p.Arg1418Leu)
|
rs1446306735
|
|
NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys)
|
rs1554904936
|
|
NM_000352.6(ABCC8):c.4268T>G (p.Ile1423Ser)
|
rs1564874456
|
|
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.4307+13A>C
|
rs886048047
|
|
NM_000352.6(ABCC8):c.4307+9del
|
rs1564874257
|
|
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.4368C>G (p.Ile1456Met)
|
rs193922403
|
|
NM_000352.6(ABCC8):c.4412-2A>G
|
rs1554904136
|
|
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.4456_4457del (p.Arg1486fs)
|
rs863225279
|
|
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.4477del (p.Arg1493fs)
|
rs1953791177
|
|
NM_000352.6(ABCC8):c.4486G>A (p.Val1496Met)
|
|
|
NM_000352.6(ABCC8):c.4527T>G (p.Ala1509=)
|
rs1953787387
|
|
NM_000352.6(ABCC8):c.4545+2T>G
|
rs1554904006
|
|
NM_000352.6(ABCC8):c.4545+4G>C
|
rs760433463
|
|
NM_000352.6(ABCC8):c.4546-8C>T
|
rs1273503048
|
|
NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser)
|
rs193922406
|
|
NM_000352.6(ABCC8):c.4563G>C (p.Lys1521Asn)
|
rs142272833
|
|
NM_000352.6(ABCC8):c.4591A>C (p.Thr1531Pro)
|
rs796891223
|
|
NM_000352.6(ABCC8):c.4605C>T (p.Ile1535=)
|
rs780203284
|
|
NM_000352.6(ABCC8):c.4612C>G (p.Arg1538Gly)
|
rs1411638309
|
|
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln)
|
rs1564869850
|
|
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.4C>T (p.Pro2Ser)
|
rs756552692
|
|
NM_000352.6(ABCC8):c.508T>G (p.Cys170Gly)
|
rs1847954058
|
|
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.546G>A (p.Leu182=)
|
rs1591896019
|
|
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.639G>A (p.Leu213=)
|
rs1483834388
|
|
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.695G>A (p.Trp232Ter)
|
rs1564977373
|
|
NM_000352.6(ABCC8):c.725del (p.Lys242fs)
|
rs1957196622
|
|
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.765C>G (p.Ile255Met)
|
rs753335564
|
|
NM_000352.6(ABCC8):c.795dup (p.Leu266fs)
|
rs1057516654
|
|
NM_000352.6(ABCC8):c.806C>A (p.Ala269Asp)
|
rs372930264
|
|
NM_000352.6(ABCC8):c.806C>T (p.Ala269Val)
|
rs372930264
|
|
NM_000352.6(ABCC8):c.822+9G>A
|
rs1007498516
|
|
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.878A>G (p.His293Arg)
|
rs587783175
|
|
NM_000352.6(ABCC8):c.881C>A (p.Ala294Asp)
|
rs1957153674
|
|
NM_000352.6(ABCC8):c.890G>T (p.Arg297Met)
|
rs371802112
|
|
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.947G>A (p.Gly316Glu)
|
rs797045214
|
|
NM_000352.6(ABCC8):c.951A>G (p.Pro317=)
|
rs1591885314
|
|
NM_000352.6(ABCC8):c.954G>C (p.Leu318=)
|
rs771014822
|
|
NM_000352.6(ABCC8):c.97G>A (p.Val33Met)
|
rs768372267
|
|
NM_000352.6(ABCC8):c.97G>T (p.Val33Leu)
|
rs768372267
|
|
NM_000365.6(TPI1):c.*134C>A
|
rs782308993
|
|
NM_000365.6(TPI1):c.*173G>A
|
rs1191018741
|
|
NM_000365.6(TPI1):c.*520T>C
|
rs1944574698
|
|
NM_000365.6(TPI1):c.*541dup
|
rs201871949
|
|
NM_000365.6(TPI1):c.*542_*544del
|
rs782559646
|
|
NM_000365.6(TPI1):c.-29C>G
|
rs181882616
|
|
NM_000365.6(TPI1):c.-29C>T
|
rs181882616
|
|
NM_000365.6(TPI1):c.158G>A (p.Arg53Gln)
|
|
|
NM_000365.6(TPI1):c.182C>T (p.Ala61Val)
|
|
|
NM_000365.6(TPI1):c.227C>G (p.Thr76Ser)
|
|
|
NM_000365.6(TPI1):c.239+8C>A
|
rs782359362
|
|
NM_000365.6(TPI1):c.37T>C (p.Trp13Arg)
|
|
|
NM_000365.6(TPI1):c.383T>C (p.Ile128Thr)
|
rs199881593
|
|
NM_000365.6(TPI1):c.409G>C (p.Ala137Pro)
|
|
|
NM_000365.6(TPI1):c.453C>G (p.Ile151Met)
|
|
|
NM_000365.6(TPI1):c.478A>G (p.Lys160Glu)
|
|
|
NM_000365.6(TPI1):c.558C>T (p.His186=)
|
rs369241009
|
|
NM_000365.6(TPI1):c.673C>A (p.Pro225Thr)
|
|
|
NM_000365.6(TPI1):c.694G>A (p.Val232Met)
|
rs1555132614
|
|
NM_000402.4(G6PD):c.1246A>G (p.Lys416Glu)
|
rs137852320
|
|
NM_000402.4(G6PD):c.1406G>C (p.Arg469Pro)
|
rs137852337
|
|
NM_000404.2(GLB1):c.[1285C>T;1097C>A]
|
|
|
NM_000404.4(GLB1):c.*194C>A
|
rs886058340
|
|
NM_000404.4(GLB1):c.*39C>T
|
rs1696328310
|
|
NM_000404.4(GLB1):c.1018G>A (p.Ala340Thr)
|
|
|
NM_000404.4(GLB1):c.1026C>A (p.Asp342Glu)
|
rs2125514060
|
|
NM_000404.4(GLB1):c.1030A>G (p.Thr344Ala)
|
|
|
NM_000404.4(GLB1):c.1071T>G (p.Phe357Leu)
|
rs727503953
|
|
NM_000404.4(GLB1):c.1084G>A (p.Glu362Lys)
|
|
|
NM_000404.4(GLB1):c.1088G>A (p.Gly363Asp)
|
rs189503132
|
|
NM_000404.4(GLB1):c.1095C>G (p.Ile365Met)
|
|
|
NM_000404.4(GLB1):c.1120T>C (p.Tyr374His)
|
|
|
NM_000404.4(GLB1):c.1121A>T (p.Tyr374Phe)
|
|
|
NM_000404.4(GLB1):c.113G>A (p.Arg38Gln)
|
|
|
NM_000404.4(GLB1):c.1184C>T (p.Ser395Phe)
|
|
|
NM_000404.4(GLB1):c.1198A>C (p.Ser400Arg)
|
|
|
NM_000404.4(GLB1):c.119C>T (p.Ser40Phe)
|
|
|
NM_000404.4(GLB1):c.1201C>A (p.Leu401Ile)
|
rs1402467081
|
|
NM_000404.4(GLB1):c.1223A>C (p.Gln408Pro)
|
rs72555369
|
|
NM_000404.4(GLB1):c.1223A>G (p.Gln408Arg)
|
rs72555369
|
|
NM_000404.4(GLB1):c.1228A>C (p.Lys410Gln)
|
|
|
NM_000404.4(GLB1):c.1232A>C (p.Gln411Pro)
|
|
|
NM_000404.4(GLB1):c.1233+15G>A
|
|
|
NM_000404.4(GLB1):c.1234-3C>A
|
|
|
NM_000404.4(GLB1):c.1273G>C (p.Asp425His)
|
|
|
NM_000404.4(GLB1):c.1279A>G (p.Ser427Gly)
|
|
|
NM_000404.4(GLB1):c.1306C>G (p.Leu436Val)
|
rs34421970
|
|
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)
|
rs202237232
|
|
NM_000404.4(GLB1):c.1310A>T (p.Asn437Ile)
|
rs202237232
|
|
NM_000404.4(GLB1):c.1333G>A (p.Val445Ile)
|
|
|
NM_000404.4(GLB1):c.1348-3C>G
|
rs1697255114
|
|
NM_000404.4(GLB1):c.1351C>T (p.Pro451Ser)
|
rs267599772
|
|
NM_000404.4(GLB1):c.1360G>A (p.Val454Ile)
|
rs1398424263
|
|
NM_000404.4(GLB1):c.1370_1372dup (p.Arg457dup)
|
rs2125467100
|
|
NM_000404.4(GLB1):c.1375_1377del (p.Asn459del)
|
|
|
NM_000404.4(GLB1):c.137_138delinsCC (p.Gln46Pro)
|
|
|
NM_000404.4(GLB1):c.1384A>G (p.Thr462Ala)
|
|
|
NM_000404.4(GLB1):c.1423C>T (p.Leu475Phe)
|
|
|
NM_000404.4(GLB1):c.1426C>G (p.Leu476Val)
|
rs113534264
|
|
NM_000404.4(GLB1):c.1437C>A (p.Asn479Lys)
|
|
|
NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)
|
rs968221254
|
|
NM_000404.4(GLB1):c.1501C>G (p.Leu501Val)
|
|
|
NM_000404.4(GLB1):c.1505G>A (p.Ser502Asn)
|
|
|
NM_000404.4(GLB1):c.1508C>A (p.Ser503Tyr)
|
|
|
NM_000404.4(GLB1):c.1516C>A (p.Leu506Ile)
|
|
|
NM_000404.4(GLB1):c.1520C>T (p.Thr507Met)
|
|
|
NM_000404.4(GLB1):c.152T>A (p.Ile51Asn)
|
rs72555390
|
|
NM_000404.4(GLB1):c.1537C>T (p.Pro513Ser)
|
|
|
NM_000404.4(GLB1):c.1556C>T (p.Ala519Val)
|
rs2125463380
|
|
NM_000404.4(GLB1):c.1561_1562inv (p.Cys521His)
|
|
|
NM_000404.4(GLB1):c.1585C>T (p.His529Tyr)
|
|
|
NM_000404.4(GLB1):c.1603C>G (p.His535Asp)
|
rs886058341
|
|
NM_000404.4(GLB1):c.1612G>A (p.Ala538Thr)
|
|
|
NM_000404.4(GLB1):c.1640C>T (p.Thr547Met)
|
|
|
NM_000404.4(GLB1):c.1658T>C (p.Met553Thr)
|
rs2125463098
|
|
NM_000404.4(GLB1):c.1672A>G (p.Ile558Val)
|
|
|
NM_000404.4(GLB1):c.168C>G (p.His56Gln)
|
rs745385633
|
|
NM_000404.4(GLB1):c.1724_1725delinsTG (p.Gly575Val)
|
|
|
NM_000404.4(GLB1):c.1734+4C>T
|
|
|
NM_000404.4(GLB1):c.1735-15TC[7]
|
rs745361874
|
|
NM_000404.4(GLB1):c.173C>T (p.Ser58Phe)
|
rs1302203983
|
|
NM_000404.4(GLB1):c.1768C>A (p.Arg590Ser)
|
rs794727165
|
|
NM_000404.4(GLB1):c.1784G>A (p.Arg595Gln)
|
rs199694629
|
|
NM_000404.4(GLB1):c.1787G>A (p.Gly596Asp)
|
rs1696348575
|
|
NM_000404.4(GLB1):c.184C>T (p.Arg62Cys)
|
|
|
NM_000404.4(GLB1):c.1855C>A (p.Leu619Met)
|
|
|
NM_000404.4(GLB1):c.1897C>G (p.Leu633Val)
|
|
|
NM_000404.4(GLB1):c.189C>G (p.Phe63Leu)
|
|
|
NM_000404.4(GLB1):c.1903G>T (p.Ala635Ser)
|
|
|
NM_000404.4(GLB1):c.1951G>A (p.Asp651Asn)
|
|
|
NM_000404.4(GLB1):c.1969G>A (p.Val657Ile)
|
|
|
NM_000404.4(GLB1):c.1978A>T (p.Arg660Ter)
|
rs1553604682
|
|
NM_000404.4(GLB1):c.1979G>A (p.Arg660Lys)
|
|
|
NM_000404.4(GLB1):c.1981C>T (p.Leu661Phe)
|
|
|
NM_000404.4(GLB1):c.1990C>T (p.Pro664Ser)
|
|
|
NM_000404.4(GLB1):c.1991del (p.Pro664fs)
|
rs1553604677
|
|
NM_000404.4(GLB1):c.1997C>T (p.Pro666Leu)
|
rs754538192
|
|
NM_000404.4(GLB1):c.2006del (p.Asn669fs)
|
rs759633494
|
|
NM_000404.4(GLB1):c.2007_2010del (p.Asn669fs)
|
rs1553604656
|
|
NM_000404.4(GLB1):c.2008A>G (p.Lys670Glu)
|
rs2125442597
|
|
NM_000404.4(GLB1):c.2011del (p.Asp671fs)
|
rs1553604655
|
|
NM_000404.4(GLB1):c.2012A>G (p.Asp671Gly)
|
|
|
NM_000404.4(GLB1):c.2032T>C (p.Ter678Arg)
|
rs1553604645
|
|
NM_000404.4(GLB1):c.2034A>C (p.Ter678Cys)
|
rs1553604644
|
|
NM_000404.4(GLB1):c.209T>C (p.Leu70Pro)
|
|
|
NM_000404.4(GLB1):c.218A>G (p.Lys73Arg)
|
rs776889510
|
|
NM_000404.4(GLB1):c.245+3A>G
|
|
|
NM_000404.4(GLB1):c.245+6T>C
|
|
|
NM_000404.4(GLB1):c.246-16GT[2]
|
|
|
NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys)
|
rs1553612220
|
|
NM_000404.4(GLB1):c.262T>C (p.Phe88Leu)
|
|
|
NM_000404.4(GLB1):c.268G>C (p.Glu90Gln)
|
|
|
NM_000404.4(GLB1):c.278C>A (p.Pro93Gln)
|
|
|
NM_000404.4(GLB1):c.281G>A (p.Gly94Glu)
|
rs1430354883
|
|
NM_000404.4(GLB1):c.326G>A (p.Arg109Gln)
|
|
|
NM_000404.4(GLB1):c.331G>A (p.Ala111Thr)
|
|
|
NM_000404.4(GLB1):c.357C>G (p.Ile119Met)
|
|
|
NM_000404.4(GLB1):c.374A>G (p.Tyr125Cys)
|
rs767916019
|
|
NM_000404.4(GLB1):c.376A>G (p.Ile126Val)
|
rs886058343
|
|
NM_000404.4(GLB1):c.395T>C (p.Met132Thr)
|
rs1553612189
|
|
NM_000404.4(GLB1):c.399A>G (p.Gly133=)
|
|
|
NM_000404.4(GLB1):c.401G>T (p.Gly134Val)
|
rs773562141
|
|
NM_000404.4(GLB1):c.454C>A (p.Pro152Thr)
|
|
|
NM_000404.4(GLB1):c.457+3A>G
|
|
|
NM_000404.4(GLB1):c.467C>T (p.Ala156Val)
|
|
|
NM_000404.4(GLB1):c.4C>G (p.Pro2Ala)
|
rs772539129
|
|
NM_000404.4(GLB1):c.501C>T (p.Pro167=)
|
rs1553611799
|
|
NM_000404.4(GLB1):c.572G>A (p.Ser191Asn)
|
rs1553611055
|
|
NM_000404.4(GLB1):c.581C>T (p.Ala194Val)
|
|
|
NM_000404.4(GLB1):c.586G>C (p.Asp196His)
|
rs2125533137
|
|
NM_000404.4(GLB1):c.592G>C (p.Asp198His)
|
|
|
NM_000404.4(GLB1):c.5C>T (p.Pro2Leu)
|
|
|
NM_000404.4(GLB1):c.617G>A (p.Arg206His)
|
|
|
NM_000404.4(GLB1):c.623G>T (p.Arg208Leu)
|
|
|
NM_000404.4(GLB1):c.625C>T (p.His209Tyr)
|
rs1699296800
|
|
NM_000404.4(GLB1):c.62C>T (p.Thr21Met)
|
|
|
NM_000404.4(GLB1):c.670C>G (p.His224Asp)
|
|
|
NM_000404.4(GLB1):c.67G>A (p.Gly23Ser)
|
|
|
NM_000404.4(GLB1):c.68G>A (p.Gly23Asp)
|
|
|
NM_000404.4(GLB1):c.697C>A (p.Leu233Met)
|
|
|
NM_000404.4(GLB1):c.711C>T (p.Tyr237=)
|
rs757982518
|
|
NM_000404.4(GLB1):c.712A>G (p.Thr238Ala)
|
rs750237687
|
|
NM_000404.4(GLB1):c.751G>A (p.Ala251Thr)
|
rs1423200446
|
|
NM_000404.4(GLB1):c.779C>A (p.Pro260His)
|
rs2125525594
|
|
NM_000404.4(GLB1):c.806T>C (p.Phe269Ser)
|
|
|
NM_000404.4(GLB1):c.821T>C (p.Leu274Pro)
|
rs1699012933
|
|
NM_000404.4(GLB1):c.837A>C (p.Gln279His)
|
|
|
NM_000404.4(GLB1):c.838C>G (p.Pro280Ala)
|
|
|
NM_000404.4(GLB1):c.838C>T (p.Pro280Ser)
|
|
|
NM_000404.4(GLB1):c.87G>T (p.Gln29His)
|
|
|
NM_000404.4(GLB1):c.895C>T (p.Arg299Cys)
|
|
|
NM_000404.4(GLB1):c.905G>A (p.Ser302Asn)
|
|
|
NM_000404.4(GLB1):c.905G>C (p.Ser302Thr)
|
|
|
NM_000404.4(GLB1):c.905G>T (p.Ser302Ile)
|
rs2125523018
|
|
NM_000404.4(GLB1):c.911A>G (p.Asn304Ser)
|
|
|
NM_000404.4(GLB1):c.914+15_914+16delinsAGTGTGAACTTGTGAGTGTTT
|
|
|
NM_000404.4(GLB1):c.914+5G>A
|
|
|
NM_000404.4(GLB1):c.915G>C (p.Leu305Phe)
|
|
|
NM_000404.4(GLB1):c.93G>A (p.Met31Ile)
|
rs1553612598
|
|
NM_000404.4(GLB1):c.956G>A (p.Gly319Glu)
|
rs2125514180
|
|
NM_000404.4(GLB1):c.967C>G (p.Pro323Ala)
|
rs1575445193
|
|
NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)
|
rs977975596
|
|
NM_000411.8(HLCS):c.-393+2558C>T
|
|
|
NM_000434.4(NEU1):c.*644A>G
|
rs1435821332
|
|
NM_000434.4(NEU1):c.*69G>A
|
rs1762424496
|
|
NM_000434.4(NEU1):c.122C>A (p.Ala41Glu)
|
rs886061290
|
|
NM_000434.4(NEU1):c.45G>A (p.Trp15Ter)
|
rs768711214
|
|
NM_000434.4(NEU1):c.539C>G (p.Ser180Cys)
|
|
|
NM_000434.4(NEU1):c.742G>A (p.Gly248Ser)
|
rs373311653
|
|
NM_000458.4(HNF1B):c.*409A>C
|
rs2031989734
|
|
NM_000458.4(HNF1B):c.*409A>G
|
rs2031989734
|
|
NM_000458.4(HNF1B):c.*585T>C
|
rs886052889
|
|
NM_000458.4(HNF1B):c.*938A>G
|
rs574000398
|
|
NM_000458.4(HNF1B):c.-14dup
|
rs193922481
|
|
NM_000458.4(HNF1B):c.-31C>G
|
rs771697321
|
|
NM_000458.4(HNF1B):c.-36del
|
rs756559188
|
|
NM_000458.4(HNF1B):c.1001C>T (p.Ser334Phe)
|
rs776928989
|
|
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp)
|
|
|
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
|
|
|
NM_000458.4(HNF1B):c.1008C>G (p.His336Gln)
|
|
|
NM_000458.4(HNF1B):c.1062G>T (p.Gln354His)
|
|
|
NM_000458.4(HNF1B):c.107C>T (p.Ser36Phe)
|
|
|
NM_000458.4(HNF1B):c.1087T>C (p.Ser363Pro)
|
|
|
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser)
|
|
|
NM_000458.4(HNF1B):c.1127C>T (p.Thr376Ile)
|
|
|
NM_000458.4(HNF1B):c.1151T>G (p.Val384Gly)
|
|
|
NM_000458.4(HNF1B):c.1169A>G (p.Asp390Gly)
|
|
|
NM_000458.4(HNF1B):c.130G>A (p.Glu44Lys)
|
|
|
NM_000458.4(HNF1B):c.1338A>G (p.Gln446=)
|
rs776536485
|
|
NM_000458.4(HNF1B):c.1381A>G (p.Ser461Gly)
|
|
|
NM_000458.4(HNF1B):c.1390G>C (p.Gly464Arg)
|
rs982085453
|
|
NM_000458.4(HNF1B):c.1395C>G (p.Ser465Arg)
|
|
|
NM_000458.4(HNF1B):c.140C>T (p.Pro47Leu)
|
|
|
NM_000458.4(HNF1B):c.1418A>G (p.Gln473Arg)
|
rs886052891
|
|
NM_000458.4(HNF1B):c.1436A>G (p.His479Arg)
|
|
|
NM_000458.4(HNF1B):c.1501A>G (p.Met501Val)
|
|
|
NM_000458.4(HNF1B):c.1505C>T (p.Ala502Val)
|
rs2032548578
|
|
NM_000458.4(HNF1B):c.150T>G (p.Pro50=)
|
rs2034119944
|
|
NM_000458.4(HNF1B):c.1540G>A (p.Ala514Thr)
|
|
|
NM_000458.4(HNF1B):c.157G>T (p.Gly53Trp)
|
rs2034119580
|
|
NM_000458.4(HNF1B):c.1580G>A (p.Arg527Gln)
|
|
|
NM_000458.4(HNF1B):c.1610C>A (p.Thr537Asn)
|
|
|
NM_000458.4(HNF1B):c.1654-11T>C
|
rs193922484
|
|
NM_000458.4(HNF1B):c.1654-11_1654-9delinsC
|
rs386134268
|
|
NM_000458.4(HNF1B):c.1654-14CT[4]
|
rs886052890
|
|
NM_000458.4(HNF1B):c.1657C>A (p.Pro553Thr)
|
|
|
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
|
|
|
NM_000458.4(HNF1B):c.202G>C (p.Gly68Arg)
|
rs767576616
|
|
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
|
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
NM_000458.4(HNF1B):c.309G>C (p.Ala103=)
|
rs1197263675
|
|
NM_000458.4(HNF1B):c.311C>T (p.Ala104Val)
|
|
|
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
|
|
|
NM_000458.4(HNF1B):c.345-4C>T
|
rs200590728
|
|
NM_000458.4(HNF1B):c.395A>G (p.His132Arg)
|
|
|
NM_000458.4(HNF1B):c.438C>T (p.Asn146=)
|
rs2033930573
|
|
NM_000458.4(HNF1B):c.473C>A (p.Thr158Asn)
|
rs1568670646
|
|
NM_000458.4(HNF1B):c.477T>C (p.Pro159=)
|
rs1212716750
|
|
NM_000458.4(HNF1B):c.480G>A (p.Met160Ile)
|
|
|
NM_000458.4(HNF1B):c.499G>A (p.Ala167Thr)
|
|
|
NM_000458.4(HNF1B):c.517G>A (p.Val173Ile)
|
|
|
NM_000458.4(HNF1B):c.542G>A (p.Arg181Gln)
|
|
|
NM_000458.4(HNF1B):c.544+7G>A
|
rs1004961534
|
|
NM_000458.4(HNF1B):c.578T>C (p.Met193Thr)
|
rs760079000
|
|
NM_000458.4(HNF1B):c.589A>C (p.Ser197Arg)
|
|
|
NM_000458.4(HNF1B):c.636G>C (p.Gln212His)
|
rs1388963837
|
|
NM_000458.4(HNF1B):c.658G>C (p.Asp220His)
|
rs377555356
|
|
NM_000458.4(HNF1B):c.662A>T (p.Asp221Val)
|
|
|
NM_000458.4(HNF1B):c.712T>A (p.Trp238Arg)
|
|
|
NM_000458.4(HNF1B):c.721G>A (p.Ala241Thr)
|
|
|
NM_000458.4(HNF1B):c.738G>A (p.Leu246=)
|
rs775562256
|
|
NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp)
|
rs748416956
|
|
NM_000458.4(HNF1B):c.758A>T (p.Gln253Leu)
|
|
|
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
|
|
|
NM_000458.4(HNF1B):c.857T>C (p.Leu286Pro)
|
rs2147545592
|
|
NM_000458.4(HNF1B):c.908G>A (p.Arg303His)
|
rs2033692404
|
|
NM_000458.4(HNF1B):c.928C>T (p.Arg310Trp)
|
rs988279557
|
|
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
|
|
|
NM_000458.4(HNF1B):c.961A>G (p.Asn321Asp)
|
rs1208894321
|
|
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
|
|
|
NM_000507.4(FBP1):c.*127C>T
|
rs1827636938
|
|
NM_000507.4(FBP1):c.-208C>G
|
rs759920853
|
|
NM_000507.4(FBP1):c.-54C>A
|
rs1057515690
|
|
NM_000507.4(FBP1):c.1012del (p.Gln338fs)
|
|
|
NM_000507.4(FBP1):c.169C>T (p.Leu57Phe)
|
rs1427047737
|
|
NM_000507.4(FBP1):c.170+4del
|
rs2131509125
|
|
NM_000507.4(FBP1):c.271G>T (p.Ala91Ser)
|
rs41316538
|
|
NM_000507.4(FBP1):c.323C>T (p.Pro108Leu)
|
|
|
NM_000507.4(FBP1):c.451A>C (p.Lys151Gln)
|
rs1827760551
|
|
NM_000507.4(FBP1):c.479T>G (p.Leu160Arg)
|
|
|
NM_000507.4(FBP1):c.527T>G (p.Leu176Arg)
|
|
|
NM_000507.4(FBP1):c.697T>C (p.Phe233Leu)
|
rs2297085
|
|
NM_000507.4(FBP1):c.704C>T (p.Pro235Leu)
|
|
|
NM_000507.4(FBP1):c.763C>T (p.Arg255Cys)
|
rs944699141
|
|
NM_000507.4(FBP1):c.826-15G>A
|
rs148942437
|
|
NM_000507.4(FBP1):c.826-15G>T
|
rs148942437
|
|
NM_000507.4(FBP1):c.826-7T>C
|
rs1827646865
|
|
NM_000507.4(FBP1):c.835C>T (p.Leu279=)
|
rs760291471
|
|
NM_000507.4(FBP1):c.926C>A (p.Thr309Lys)
|
|
|
NM_000507.4(FBP1):c.959_960delinsTG (p.Gly320Val)
|
|
|
NM_000507.4(FBP1):c.966del (p.Asp323fs)
|
rs747269745
|
|
NM_000507.4(FBP1):c.971A>G (p.Asp324Gly)
|
rs1827640590
|
|
NM_000507.4(FBP1):c.985C>A (p.Leu329Met)
|
rs2131469421
|
|
NM_000512.4(GALNS):c.413T>C (p.Val138Ala)
|
rs118204436
|
|
NM_000512.5(GALNS):c.*123G>C
|
rs886052453
|
|
NM_000512.5(GALNS):c.*207G>T
|
rs886052452
|
|
NM_000512.5(GALNS):c.*212C>A
|
rs117754023
|
|
NM_000512.5(GALNS):c.*261T>G
|
rs915733731
|
|
NM_000512.5(GALNS):c.*270T>C
|
rs1909389591
|
|
NM_000512.5(GALNS):c.*387T>G
|
rs1909377767
|
|
NM_000512.5(GALNS):c.*520C>A
|
rs80125890
|
|
NM_000512.5(GALNS):c.*70T>C
|
rs933630786
|
|
NM_000512.5(GALNS):c.-10C>G
|
rs781533703
|
|
NM_000512.5(GALNS):c.-1_6delinsT (p.Met1_Ala2del)
|
rs2143013673
|
|
NM_000512.5(GALNS):c.-42G>T
|
rs1433642862
|
|
NM_000512.5(GALNS):c.-58C>A
|
rs1244075467
|
|
NM_000512.5(GALNS):c.-58C>G
|
rs1244075467
|
|
NM_000512.5(GALNS):c.1002+307G>C
|
rs866140272
|
|
NM_000512.5(GALNS):c.1002+4A>T
|
|
|
NM_000512.5(GALNS):c.1003-3C>G
|
rs760239741
|
|
NM_000512.5(GALNS):c.100C>G (p.Leu34Val)
|
rs1352806619
|
|
NM_000512.5(GALNS):c.100CTGCTC[1] (p.Leu36_Leu37del)
|
rs794726887
|
|
NM_000512.5(GALNS):c.1016T>G (p.Leu339Arg)
|
rs1244322663
|
|
NM_000512.5(GALNS):c.1027A>T (p.Met343Leu)
|
rs1910977435
|
|
NM_000512.5(GALNS):c.1030G>A (p.Asp344Asn)
|
rs2142995864
|
|
NM_000512.5(GALNS):c.1032C>G (p.Asp344Glu)
|
rs1407467035
|
|
NM_000512.5(GALNS):c.1034T>C (p.Leu345Pro)
|
rs2142995853
|
|
NM_000512.5(GALNS):c.1038C>A (p.Phe346Leu)
|
rs766504053
|
|
NM_000512.5(GALNS):c.1042A>G (p.Thr348Ala)
|
rs1597547797
|
|
NM_000512.5(GALNS):c.1043C>A (p.Thr348Asn)
|
rs368305568
|
|
NM_000512.5(GALNS):c.1051G>T (p.Ala351Ser)
|
|
|
NM_000512.5(GALNS):c.1055T>C (p.Leu352Pro)
|
rs2142995830
|
|
NM_000512.5(GALNS):c.1058C>A (p.Ala353Glu)
|
rs774113183
|
|
NM_000512.5(GALNS):c.1058C>T (p.Ala353Val)
|
rs774113183
|
|
NM_000512.5(GALNS):c.107T>C (p.Leu36Pro)
|
rs755832705
|
|
NM_000512.5(GALNS):c.1082G>T (p.Arg361Met)
|
rs2142995799
|
|
NM_000512.5(GALNS):c.1088T>C (p.Ile363Thr)
|
|
|
NM_000512.5(GALNS):c.1094G>T (p.Gly365Val)
|
rs2142995782
|
|
NM_000512.5(GALNS):c.1097T>C (p.Leu366Pro)
|
rs971227692
|
|
NM_000512.5(GALNS):c.1106T>C (p.Leu369Pro)
|
rs2142995771
|
|
NM_000512.5(GALNS):c.112A>C (p.Met38Leu)
|
rs1306083557
|
|
NM_000512.5(GALNS):c.1138A>G (p.Arg380Gly)
|
rs770908172
|
|
NM_000512.5(GALNS):c.1139G>A (p.Arg380Lys)
|
|
|
NM_000512.5(GALNS):c.1139G>C (p.Arg380Thr)
|
rs2142995734
|
|
NM_000512.5(GALNS):c.1140-15C>T
|
rs1910644710
|
|
NM_000512.5(GALNS):c.1140G>T (p.Arg380Ser)
|
rs200763834
|
|
NM_000512.5(GALNS):c.1142C>G (p.Pro381Arg)
|
rs2142993896
|
|
NM_000512.5(GALNS):c.1156C>A (p.Arg386Ser)
|
rs118204437
|
|
NM_000512.5(GALNS):c.1159G>A (p.Gly387Ser)
|
rs1910641750
|
|
NM_000512.5(GALNS):c.115G>T (p.Asp39Tyr)
|
rs2143013504
|
|
NM_000512.5(GALNS):c.1160G>A (p.Gly387Asp)
|
|
|
NM_000512.5(GALNS):c.1166C>T (p.Thr389Met)
|
|
|
NM_000512.5(GALNS):c.1169T>C (p.Leu390Pro)
|
rs2142993863
|
|
NM_000512.5(GALNS):c.1173GGC[1] (p.Ala393del)
|
rs1567519221
|
|
NM_000512.5(GALNS):c.1180A>C (p.Thr394Pro)
|
rs2142993839
|
|
NM_000512.5(GALNS):c.1183C>G (p.Leu395Val)
|
rs767701478
|
|
NM_000512.5(GALNS):c.1184T>C (p.Leu395Pro)
|
rs1227964288
|
|
NM_000512.5(GALNS):c.118G>A (p.Asp40Asn)
|
rs1967935603
|
|
NM_000512.5(GALNS):c.118G>T (p.Asp40Tyr)
|
|
|
NM_000512.5(GALNS):c.1192C>G (p.His398Asp)
|
rs1910635964
|
|
NM_000512.5(GALNS):c.1196A>G (p.Lys399Arg)
|
rs1267791852
|
|
NM_000512.5(GALNS):c.119A>G (p.Asp40Gly)
|
rs1967935467
|
|
NM_000512.5(GALNS):c.120+4A>G
|
rs1213209894
|
|
NM_000512.5(GALNS):c.1201C>T (p.His401Tyr)
|
rs2142993806
|
|
NM_000512.5(GALNS):c.1207TGGACC[1] (p.403WT[1])
|
rs1567519128
|
|
NM_000512.5(GALNS):c.1209_1210delinsTT (p.Trp403_Thr404delinsCysSer)
|
rs2142993802
|
|
NM_000512.5(GALNS):c.121-157C>T
|
|
|
NM_000512.5(GALNS):c.121-202A>G
|
rs550044789
|
|
NM_000512.5(GALNS):c.121-7C>G
|
rs1004936255
|
|
NM_000512.5(GALNS):c.121-9T>G
|
rs2143005573
|
|
NM_000512.5(GALNS):c.1210A>C (p.Thr404Pro)
|
rs2142993800
|
|
NM_000512.5(GALNS):c.1221C>G (p.Asn407Lys)
|
rs2142993785
|
|
NM_000512.5(GALNS):c.1226G>C (p.Trp409Ser)
|
rs2142993782
|
|
NM_000512.5(GALNS):c.122T>A (p.Met41Lys)
|
rs1555523411
|
|
NM_000512.5(GALNS):c.1243-10C>G
|
rs886052455
|
|
NM_000512.5(GALNS):c.1244G>T (p.Gly415Val)
|
rs2142992416
|
|
NM_000512.5(GALNS):c.1258C>T (p.Pro420Ser)
|
rs1341980746
|
|
NM_000512.5(GALNS):c.1259C>G (p.Pro420Arg)
|
rs752937387
|
|
NM_000512.5(GALNS):c.125G>A (p.Gly42Glu)
|
rs2143005560
|
|
NM_000512.5(GALNS):c.1261G>A (p.Gly421Arg)
|
rs2142992406
|
|
NM_000512.5(GALNS):c.1262G>A (p.Gly421Glu)
|
rs2142992401
|
|
NM_000512.5(GALNS):c.1264C>A (p.Gln422Lys)
|
rs1295162107
|
|
NM_000512.5(GALNS):c.1270G>A (p.Val424Ile)
|
|
|
NM_000512.5(GALNS):c.131G>T (p.Gly44Val)
|
rs1237852382
|
|
NM_000512.5(GALNS):c.1334G>A (p.Gly445Glu)
|
rs2142992321
|
|
NM_000512.5(GALNS):c.1345G>A (p.Gly449Arg)
|
rs1910352262
|
|
NM_000512.5(GALNS):c.1349A>G (p.Glu450Gly)
|
rs2142992313
|
|
NM_000512.5(GALNS):c.1349A>T (p.Glu450Val)
|
rs2142992313
|
|
NM_000512.5(GALNS):c.134A>G (p.Asp45Gly)
|
rs1967040455
|
|
NM_000512.5(GALNS):c.1354T>A (p.Phe452Ile)
|
rs398123432
|
|
NM_000512.5(GALNS):c.1354T>C (p.Phe452Leu)
|
rs398123432
|
|
NM_000512.5(GALNS):c.1361T>C (p.Leu454Pro)
|
rs2142992298
|
|
NM_000512.5(GALNS):c.139G>C (p.Gly47Arg)
|
rs199638097
|
|
NM_000512.5(GALNS):c.1408T>C (p.Ser470Pro)
|
rs2142982603
|
|
NM_000512.5(GALNS):c.1410G>A (p.Ser470=)
|
rs763263800
|
|
NM_000512.5(GALNS):c.1418A>G (p.Gln473Arg)
|
rs1909825123
|
|
NM_000512.5(GALNS):c.1423C>A (p.His475Asn)
|
rs749297663
|
|
NM_000512.5(GALNS):c.1427A>C (p.Gln476Pro)
|
rs1597524240
|
|
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del)
|
rs1909818289
|
|
NM_000512.5(GALNS):c.142G>A (p.Val48Met)
|
rs1377186614
|
|
NM_000512.5(GALNS):c.143T>C (p.Val48Ala)
|
rs191519947
|
|
NM_000512.5(GALNS):c.1450C>T (p.Pro484Ser)
|
rs1204485789
|
|
NM_000512.5(GALNS):c.1451C>T (p.Pro484Leu)
|
rs1482155729
|
|
NM_000512.5(GALNS):c.1460A>G (p.Asn487Ser)
|
rs118204440
|
|
NM_000512.5(GALNS):c.1460A>T (p.Asn487Ile)
|
rs118204440
|
|
NM_000512.5(GALNS):c.1461C>A (p.Asn487Lys)
|
rs1273463889
|
|
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr)
|
rs760300454
|
|
NM_000512.5(GALNS):c.1481T>C (p.Met494Thr)
|
rs2142982062
|
|
NM_000512.5(GALNS):c.1482+1G>A
|
rs2142982054
|
|
NM_000512.5(GALNS):c.1482+5G>A
|
rs2142982032
|
|
NM_000512.5(GALNS):c.1482+5G>C
|
|
|
NM_000512.5(GALNS):c.1488G>T (p.Trp496Cys)
|
rs1355113466
|
|
NM_000512.5(GALNS):c.148G>A (p.Gly50Arg)
|
rs2143005530
|
|
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)
|
rs1597515555
|
|
NM_000512.5(GALNS):c.1498G>T (p.Gly500Cys)
|
rs1303492021
|
|
NM_000512.5(GALNS):c.1502G>C (p.Cys501Ser)
|
rs948490589
|
|
NM_000512.5(GALNS):c.1519T>C (p.Cys507Arg)
|
rs1567509070
|
|
NM_000512.5(GALNS):c.1523T>C (p.Leu508Pro)
|
rs2142967000
|
|
NM_000512.5(GALNS):c.1531C>G (p.Pro511Ala)
|
|
|
NM_000512.5(GALNS):c.1531C>T (p.Pro511Ser)
|
|
|
NM_000512.5(GALNS):c.154_165del (p.Pro52_Glu55del)
|
rs2143005515
|
|
NM_000512.5(GALNS):c.1555C>T (p.Leu519Phe)
|
rs1597515354
|
|
NM_000512.5(GALNS):c.155C>T (p.Pro52Leu)
|
rs2143005523
|
|
NM_000512.5(GALNS):c.1560G>A (p.Trp520Ter)
|
rs2142966686
|
|
NM_000512.5(GALNS):c.1567T>C (p.Ter523Gln)
|
rs1348149236
|
|
NM_000512.5(GALNS):c.1568A>G (p.Ter523Trp)
|
rs2142966615
|
|
NM_000512.5(GALNS):c.158C>T (p.Ser53Phe)
|
rs1421990673
|
|
NM_000512.5(GALNS):c.170C>T (p.Pro57Leu)
|
|
|
NM_000512.5(GALNS):c.173A>G (p.Asn58Ser)
|
|
|
NM_000512.5(GALNS):c.177G>A (p.Leu59=)
|
|
|
NM_000512.5(GALNS):c.190_191delinsAT (p.Ala64Ile)
|
rs2143005495
|
|
NM_000512.5(GALNS):c.196G>C (p.Gly66Arg)
|
rs1967035346
|
|
NM_000512.5(GALNS):c.205T>G (p.Phe69Val)
|
rs118204445
|
|
NM_000512.5(GALNS):c.210_221del (p.Asn71_Ser74del)
|
rs2143005478
|
|
NM_000512.5(GALNS):c.211A>G (p.Asn71Asp)
|
|
|
NM_000512.5(GALNS):c.213C>G (p.Asn71Lys)
|
|
|
NM_000512.5(GALNS):c.221C>T (p.Ser74Phe)
|
rs2143005475
|
|
NM_000512.5(GALNS):c.224C>G (p.Ala75Gly)
|
rs2143005473
|
|
NM_000512.5(GALNS):c.228C>G (p.Asn76Lys)
|
rs147599478
|
|
NM_000512.5(GALNS):c.229C>T (p.Pro77Ser)
|
rs201278722
|
|
NM_000512.5(GALNS):c.239C>G (p.Ser80Trp)
|
rs1209154325
|
|
NM_000512.5(GALNS):c.23C>G (p.Thr8Arg)
|
rs2143013653
|
|
NM_000512.5(GALNS):c.245-11C>G
|
rs552476248
|
|
NM_000512.5(GALNS):c.251C>A (p.Ala84Glu)
|
rs141340188
|
|
NM_000512.5(GALNS):c.253G>A (p.Ala85Thr)
|
rs2143005122
|
|
NM_000512.5(GALNS):c.257T>C (p.Leu86Pro)
|
rs2143005116
|
|
NM_000512.5(GALNS):c.260T>C (p.Leu87Pro)
|
rs1418948853
|
|
NM_000512.5(GALNS):c.263C>T (p.Thr88Ile)
|
rs2143005111
|
|
NM_000512.5(GALNS):c.268C>G (p.Arg90Gly)
|
rs1028668536
|
|
NM_000512.5(GALNS):c.272T>C (p.Leu91Pro)
|
rs2143005099
|
|
NM_000512.5(GALNS):c.274C>T (p.Pro92Ser)
|
rs2143005097
|
|
NM_000512.5(GALNS):c.278T>C (p.Ile93Thr)
|
rs1966993165
|
|
NM_000512.5(GALNS):c.286G>T (p.Gly96Cys)
|
rs2143005086
|
|
NM_000512.5(GALNS):c.287G>T (p.Gly96Val)
|
rs1966992597
|
|
NM_000512.5(GALNS):c.289T>G (p.Phe97Val)
|
rs2143005083
|
|
NM_000512.5(GALNS):c.296C>T (p.Thr99Ile)
|
rs2143005081
|
|
NM_000512.5(GALNS):c.298A>C (p.Thr100Pro)
|
rs1597581827
|
|
NM_000512.5(GALNS):c.313A>G (p.Arg105Gly)
|
rs2143005072
|
|
NM_000512.5(GALNS):c.317A>G (p.Asn106Ser)
|
rs2143005070
|
|
NM_000512.5(GALNS):c.319G>C (p.Ala107Pro)
|
rs763184657
|
|
NM_000512.5(GALNS):c.319G>T (p.Ala107Ser)
|
rs763184657
|
|
NM_000512.5(GALNS):c.31T>C (p.Trp11Arg)
|
|
|
NM_000512.5(GALNS):c.323A>G (p.Tyr108Cys)
|
rs1256041500
|
|
NM_000512.5(GALNS):c.326C>T (p.Thr109Ile)
|
rs2143004681
|
|
NM_000512.5(GALNS):c.332A>G (p.Gln111Arg)
|
rs2143004671
|
|
NM_000512.5(GALNS):c.363G>C (p.Glu121Asp)
|
rs780986116
|
|
NM_000512.5(GALNS):c.374C>A (p.Pro125Gln)
|
rs746949976
|
|
NM_000512.5(GALNS):c.376G>C (p.Glu126Gln)
|
rs1177468816
|
|
NM_000512.5(GALNS):c.385AAG[1] (p.Lys130del)
|
|
|
NM_000512.5(GALNS):c.398A>C (p.Tyr133Ser)
|
rs1379268067
|
|
NM_000512.5(GALNS):c.3G>A (p.Met1Ile)
|
rs2143013681
|
|
NM_000512.5(GALNS):c.400G>A (p.Val134Ile)
|
rs886052457
|
|
NM_000512.5(GALNS):c.405C>G (p.Ser135Arg)
|
rs2143004605
|
|
NM_000512.5(GALNS):c.416G>A (p.Gly139Asp)
|
rs2143004596
|
|
NM_000512.5(GALNS):c.421T>A (p.Trp141Arg)
|
rs794727625
|
|
NM_000512.5(GALNS):c.422+2dup
|
rs2143004586
|
|
NM_000512.5(GALNS):c.423-16G>A
|
|
|
NM_000512.5(GALNS):c.423G>T (p.Trp141Cys)
|
rs2143002473
|
|
NM_000512.5(GALNS):c.424C>A (p.His142Asn)
|
rs2143002472
|
|
NM_000512.5(GALNS):c.425A>G (p.His142Arg)
|
rs1288895691
|
|
NM_000512.5(GALNS):c.426T>A (p.His142Gln)
|
rs754616917
|
|
NM_000512.5(GALNS):c.43C>A (p.Leu15Met)
|
rs866745731
|
|
NM_000512.5(GALNS):c.446T>G (p.Phe149Cys)
|
rs2143002458
|
|
NM_000512.5(GALNS):c.448C>T (p.His150Tyr)
|
rs1168278189
|
|
NM_000512.5(GALNS):c.451C>T (p.Pro151Ser)
|
rs781439830
|
|
NM_000512.5(GALNS):c.452C>G (p.Pro151Arg)
|
rs559063128
|
|
NM_000512.5(GALNS):c.464G>A (p.Gly155Glu)
|
rs2143002437
|
|
NM_000512.5(GALNS):c.467T>C (p.Phe156Ser)
|
rs1301146300
|
|
NM_000512.5(GALNS):c.467T>G (p.Phe156Cys)
|
rs1301146300
|
|
NM_000512.5(GALNS):c.46G>T (p.Val16Leu)
|
|
|
NM_000512.5(GALNS):c.477G>T (p.Trp159Cys)
|
rs398123439
|
|
NM_000512.5(GALNS):c.47T>A (p.Val16Glu)
|
rs794729202
|
|
NM_000512.5(GALNS):c.482G>A (p.Gly161Glu)
|
rs2143002420
|
|
NM_000512.5(GALNS):c.488C>A (p.Pro163His)
|
rs2143002411
|
|
NM_000512.5(GALNS):c.488C>T (p.Pro163Leu)
|
|
|
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)
|
rs761725425
|
|
NM_000512.5(GALNS):c.491A>G (p.Asn164Ser)
|
rs761725425
|
|
NM_000512.5(GALNS):c.497A>G (p.His166Arg)
|
rs2143002394
|
|
NM_000512.5(GALNS):c.498C>G (p.His166Gln)
|
rs1301198698
|
|
NM_000512.5(GALNS):c.499T>G (p.Phe167Val)
|
rs148565559
|
|
NM_000512.5(GALNS):c.502_503delinsTT (p.Gly168Leu)
|
rs2143002376
|
|
NM_000512.5(GALNS):c.503G>T (p.Gly168Val)
|
rs2143002375
|
|
NM_000512.5(GALNS):c.508T>C (p.Tyr170His)
|
rs2143002372
|
|
NM_000512.5(GALNS):c.512A>C (p.Asp171Ala)
|
rs2143002367
|
|
NM_000512.5(GALNS):c.513CAA[1] (p.Asn172del)
|
|
|
NM_000512.5(GALNS):c.529A>C (p.Asn177His)
|
rs2143002349
|
|
NM_000512.5(GALNS):c.530A>G (p.Asn177Ser)
|
rs2143002347
|
|
NM_000512.5(GALNS):c.535C>T (p.Pro179Ser)
|
rs2143002341
|
|
NM_000512.5(GALNS):c.536C>A (p.Pro179His)
|
rs1912278519
|
|
NM_000512.5(GALNS):c.536C>T (p.Pro179Leu)
|
rs1912278519
|
|
NM_000512.5(GALNS):c.542A>G (p.Tyr181Cys)
|
rs786205899
|
|
NM_000512.5(GALNS):c.547G>T (p.Asp183Tyr)
|
rs2143002331
|
|
NM_000512.5(GALNS):c.554A>G (p.Glu185Gly)
|
rs2143002324
|
|
NM_000512.5(GALNS):c.562G>A (p.Gly188Ser)
|
rs2143002317
|
|
NM_000512.5(GALNS):c.563G>A (p.Gly188Asp)
|
rs2143002315
|
|
NM_000512.5(GALNS):c.566+6G>A
|
rs1912274502
|
|
NM_000512.5(GALNS):c.571T>G (p.Tyr191Asp)
|
rs2143001744
|
|
NM_000512.5(GALNS):c.572A>G (p.Tyr191Cys)
|
rs2143001742
|
|
NM_000512.5(GALNS):c.587T>A (p.Ile196Asn)
|
rs759502513
|
|
NM_000512.5(GALNS):c.608C>T (p.Ala203Val)
|
rs2143001722
|
|
NM_000512.5(GALNS):c.633+13G>C
|
rs200292757
|
|
NM_000512.5(GALNS):c.634-5C>G
|
rs1354095513
|
|
NM_000512.5(GALNS):c.676T>C (p.Phe226Leu)
|
rs1375452799
|
|
NM_000512.5(GALNS):c.67G>C (p.Gly23Arg)
|
rs2143013593
|
|
NM_000512.5(GALNS):c.686A>C (p.Tyr229Ser)
|
rs554190546
|
|
NM_000512.5(GALNS):c.688T>G (p.Trp230Gly)
|
rs2143001411
|
|
NM_000512.5(GALNS):c.690G>T (p.Trp230Cys)
|
rs2143001410
|
|
NM_000512.5(GALNS):c.692C>T (p.Ala231Val)
|
|
|
NM_000512.5(GALNS):c.700G>A (p.Ala234Thr)
|
rs368603508
|
|
NM_000512.5(GALNS):c.704C>T (p.Thr235Met)
|
|
|
NM_000512.5(GALNS):c.706C>G (p.His236Asp)
|
rs1228027865
|
|
NM_000512.5(GALNS):c.707A>G (p.His236Arg)
|
rs398123441
|
|
NM_000512.5(GALNS):c.707_708inv (p.His236Arg)
|
|
|
NM_000512.5(GALNS):c.715G>T (p.Val239Phe)
|
rs145131011
|
|
NM_000512.5(GALNS):c.722C>A (p.Ala241Asp)
|
rs2143001386
|
|
NM_000512.5(GALNS):c.725C>G (p.Ser242Cys)
|
rs2143001380
|
|
NM_000512.5(GALNS):c.754G>A (p.Gly252Arg)
|
|
|
NM_000512.5(GALNS):c.758+3G>A
|
|
|
NM_000512.5(GALNS):c.758+4A>T
|
rs2143001351
|
|
NM_000512.5(GALNS):c.761A>G (p.Tyr254Cys)
|
rs2143001210
|
|
NM_000512.5(GALNS):c.775C>G (p.Arg259Gly)
|
rs61742258
|
|
NM_000512.5(GALNS):c.778G>A (p.Glu260Lys)
|
rs2143001194
|
|
NM_000512.5(GALNS):c.779A>T (p.Glu260Val)
|
|
|
NM_000512.5(GALNS):c.77G>A (p.Gly26Asp)
|
rs1210023208
|
|
NM_000512.5(GALNS):c.780G>C (p.Glu260Asp)
|
rs2143001191
|
|
NM_000512.5(GALNS):c.791G>C (p.Ser264Thr)
|
rs2143001182
|
|
NM_000512.5(GALNS):c.812T>C (p.Leu271Pro)
|
rs1912001607
|
|
NM_000512.5(GALNS):c.824T>C (p.Leu275Pro)
|
rs2143001162
|
|
NM_000512.5(GALNS):c.828C>G (p.His276Gln)
|
rs759216815
|
|
NM_000512.5(GALNS):c.836ACA[1] (p.Asn280del)
|
rs1389218771
|
|
NM_000512.5(GALNS):c.848T>C (p.Val283Ala)
|
|
|
NM_000512.5(GALNS):c.863A>G (p.Asp288Gly)
|
rs2143001134
|
|
NM_000512.5(GALNS):c.865A>C (p.Asn289His)
|
rs1314520034
|
|
NM_000512.5(GALNS):c.865A>G (p.Asn289Asp)
|
rs1314520034
|
|
NM_000512.5(GALNS):c.868G>C (p.Gly290Arg)
|
rs975409254
|
|
NM_000512.5(GALNS):c.869G>A (p.Gly290Asp)
|
rs1214775986
|
|
NM_000512.5(GALNS):c.871G>T (p.Ala291Ser)
|
rs118204448
|
|
NM_000512.5(GALNS):c.872C>A (p.Ala291Asp)
|
rs2143001123
|
|
NM_000512.5(GALNS):c.886G>A (p.Ala296Thr)
|
|
|
NM_000512.5(GALNS):c.899-167A>G
|
rs2142999330
|
|
NM_000512.5(GALNS):c.899G>T (p.Gly300Val)
|
rs780778562
|
|
NM_000512.5(GALNS):c.89C>T (p.Pro30Leu)
|
rs1298604798
|
|
NM_000512.5(GALNS):c.909C>G (p.Asn303Lys)
|
rs751446283
|
|
NM_000512.5(GALNS):c.911G>A (p.Gly304Asp)
|
rs758439379
|
|
NM_000512.5(GALNS):c.916T>G (p.Phe306Val)
|
rs2142999207
|
|
NM_000512.5(GALNS):c.917T>C (p.Phe306Ser)
|
rs759590432
|
|
NM_000512.5(GALNS):c.919C>A (p.Leu307Met)
|
rs2142999203
|
|
NM_000512.5(GALNS):c.920T>C (p.Leu307Pro)
|
rs2142999202
|
|
NM_000512.5(GALNS):c.922T>C (p.Cys308Arg)
|
rs2142999197
|
|
NM_000512.5(GALNS):c.924T>G (p.Cys308Trp)
|
rs1567526988
|
|
NM_000512.5(GALNS):c.925G>A (p.Gly309Arg)
|
rs2142999191
|
|
NM_000512.5(GALNS):c.930G>C (p.Lys310Asn)
|
rs377285422
|
|
NM_000512.5(GALNS):c.934A>T (p.Thr312Ser)
|
rs2142999186
|
|
NM_000512.5(GALNS):c.937A>G (p.Thr313Ala)
|
rs2142999184
|
|
NM_000512.5(GALNS):c.940T>G (p.Phe314Val)
|
rs774781295
|
|
NM_000512.5(GALNS):c.943G>A (p.Glu315Lys)
|
rs2142999177
|
|
NM_000512.5(GALNS):c.943G>C (p.Glu315Gln)
|
rs2142999177
|
|
NM_000512.5(GALNS):c.947G>T (p.Gly316Val)
|
rs1057518404
|
|
NM_000512.5(GALNS):c.949G>C (p.Gly317Arg)
|
rs556060696
|
|
NM_000512.5(GALNS):c.94A>G (p.Asn32Asp)
|
rs2143013538
|
|
NM_000512.5(GALNS):c.950G>A (p.Gly317Glu)
|
rs2142999169
|
|
NM_000512.5(GALNS):c.956G>C (p.Arg319Thr)
|
rs377744312
|
|
NM_000512.5(GALNS):c.958G>A (p.Glu320Lys)
|
rs2142999156
|
|
NM_000512.5(GALNS):c.95A>C (p.Asn32Thr)
|
rs773933657
|
|
NM_000512.5(GALNS):c.960G>T (p.Glu320Asp)
|
rs1213435795
|
|
NM_000512.5(GALNS):c.964G>C (p.Ala322Pro)
|
rs1597559500
|
|
NM_000512.5(GALNS):c.970G>T (p.Ala324Ser)
|
rs569725890
|
|
NM_000512.5(GALNS):c.971C>A (p.Ala324Glu)
|
rs2142999148
|
|
NM_000512.5(GALNS):c.973TGG[1] (p.Trp326del)
|
rs2142999135
|
|
NM_000512.5(GALNS):c.975G>T (p.Trp325Cys)
|
rs1269110043
|
|
NM_000512.5(GALNS):c.976T>C (p.Trp326Arg)
|
|
|
NM_000512.5(GALNS):c.977G>C (p.Trp326Ser)
|
rs2142999137
|
|
NM_000512.5(GALNS):c.985C>A (p.His329Asn)
|
rs766548318
|
|
NM_000512.5:c.(898+1_899-1)_(1002+1_1003-1)dup
|
|
|
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.*1415G>C
|
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.*826_*827dup
|
rs886048034
|
|
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.-154G>A
|
rs539975714
|
|
NM_000525.4(KCNJ11):c.-424C>T
|
rs1953601577
|
|
NM_000525.4(KCNJ11):c.-559G>C
|
rs547932593
|
|
NM_000525.4(KCNJ11):c.1005C>A (p.Asn335Lys)
|
rs1564864998
|
|
NM_000525.4(KCNJ11):c.1017G>A (p.Val339=)
|
rs770408379
|
|
NM_000525.4(KCNJ11):c.1046T>C (p.Leu349Pro)
|
|
|
NM_000525.4(KCNJ11):c.1058A>G (p.His353Arg)
|
|
|
NM_000525.4(KCNJ11):c.1062C>T (p.Ser354=)
|
rs1591694628
|
|
NM_000525.4(KCNJ11):c.1064dup (p.Leu356fs)
|
rs1337406718
|
|
NM_000525.4(KCNJ11):c.10C>T (p.Arg4Cys)
|
rs543286136
|
|
NM_000525.4(KCNJ11):c.1126G>T (p.Ala376Ser)
|
rs1953567712
|
|
NM_000525.4(KCNJ11):c.119G>A (p.Gly40Asp)
|
rs1001873841
|
|
NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg)
|
rs80356610
|
|
NM_000525.4(KCNJ11):c.152_158del (p.Glu51fs)
|
rs1953591118
|
|
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.157G>A (p.Gly53Ser)
|
rs80356613
|
|
NM_000525.4(KCNJ11):c.161G>A (p.Arg54His)
|
rs587783666
|
|
NM_000525.4(KCNJ11):c.238del (p.Leu80fs)
|
rs1953589834
|
|
NM_000525.4(KCNJ11):c.245G>A (p.Ser82Asn)
|
rs1564865688
|
|
NM_000525.4(KCNJ11):c.264G>T (p.Met88Ile)
|
rs1554901866
|
|
NM_000525.4(KCNJ11):c.28G>A (p.Glu10Lys)
|
rs587783667
|
|
NM_000525.4(KCNJ11):c.290dup (p.His97fs)
|
rs1554901854
|
|
NM_000525.4(KCNJ11):c.309C>A (p.Ser103Arg)
|
rs376773562
|
|
NM_000525.4(KCNJ11):c.346T>C (p.Ser116Pro)
|
rs1953587696
|
|
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.368dup (p.Ser124fs)
|
rs1554901822
|
|
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.472A>G (p.Met158Val)
|
rs1953585385
|
|
NM_000525.4(KCNJ11):c.490C>A (p.Leu164Ile)
|
rs1554901796
|
|
NM_000525.4(KCNJ11):c.498C>A (p.Cys166Ter)
|
rs587783669
|
|
NM_000525.4(KCNJ11):c.49C>T (p.Leu17=)
|
rs1287370462
|
|
NM_000525.4(KCNJ11):c.525C>A (p.His175Gln)
|
rs865963367
|
|
NM_000525.4(KCNJ11):c.525C>T (p.His175=)
|
rs865963367
|
|
NM_000525.4(KCNJ11):c.532del (p.Ala178fs)
|
rs1554901775
|
|
NM_000525.4(KCNJ11):c.539C>A (p.Thr180Asn)
|
rs1953584002
|
|
NM_000525.4(KCNJ11):c.541C>T (p.Leu181Phe)
|
rs1564865434
|
|
NM_000525.4(KCNJ11):c.558T>C (p.His186=)
|
rs1953583830
|
|
NM_000525.4(KCNJ11):c.581GCC[1] (p.Arg195del)
|
rs886042779
|
|
NM_000525.4(KCNJ11):c.5T>C (p.Leu2Pro)
|
rs193922565
|
|
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys)
|
rs80356625
|
|
NM_000525.4(KCNJ11):c.617G>T (p.Arg206Leu)
|
rs1554901747
|
|
NM_000525.4(KCNJ11):c.61C>A (p.Pro21Thr)
|
|
|
NM_000525.4(KCNJ11):c.662G>A (p.Arg221His)
|
rs768909861
|
|
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.774C>A (p.Tyr258Ter)
|
rs1564865232
|
|
NM_000525.4(KCNJ11):c.797C>T (p.Pro266Leu)
|
rs1554901679
|
|
NM_000525.4(KCNJ11):c.821A>G (p.Asp274Gly)
|
rs794726888
|
|
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.889ACC[1] (p.Thr298del)
|
rs1953574433
|
|
NM_000525.4(KCNJ11):c.901C>T (p.Arg301Cys)
|
rs377091338
|
|
NM_000525.4(KCNJ11):c.905C>A (p.Thr302Asn)
|
rs761575495
|
|
NM_000525.4(KCNJ11):c.905C>T (p.Thr302Ile)
|
rs761575495
|
|
NM_000525.4(KCNJ11):c.967dup (p.Asp323fs)
|
rs1554901596
|
|
NM_000525.4(KCNJ11):c.973C>A (p.Arg325Ser)
|
rs550315112
|
|
NM_000525.4(KCNJ11):c.980C>A (p.Ser327Tyr)
|
rs1554901583
|
|
NM_000525.4(KCNJ11):c.988T>C (p.Tyr330His)
|
rs587783675
|
|
NM_000528.4(MAN2B1):c.*100T>G
|
rs886054227
|
|
NM_000528.4(MAN2B1):c.1003C>T (p.Leu335Phe)
|
rs2145272792
|
|
NM_000528.4(MAN2B1):c.1009C>T (p.Arg337Trp)
|
|
|
NM_000528.4(MAN2B1):c.100C>A (p.Pro34Thr)
|
|
|
NM_000528.4(MAN2B1):c.1015G>A (p.Val339Ile)
|
|
|
NM_000528.4(MAN2B1):c.1016T>C (p.Val339Ala)
|
|
|
NM_000528.4(MAN2B1):c.1027-2A>C
|
|
|
NM_000528.4(MAN2B1):c.1027-7C>G
|
|
|
NM_000528.4(MAN2B1):c.1030G>C (p.Ala344Pro)
|
rs2145262302
|
|
NM_000528.4(MAN2B1):c.1055T>C (p.Leu352Pro)
|
rs864621980
|
|
NM_000528.4(MAN2B1):c.1066C>G (p.Pro356Ala)
|
rs2145262130
|
|
NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)
|
rs117880912
|
|
NM_000528.4(MAN2B1):c.1078C>G (p.Leu360Val)
|
rs2145262015
|
|
NM_000528.4(MAN2B1):c.1087C>G (p.Leu363Val)
|
|
|
NM_000528.4(MAN2B1):c.1110-15C>G
|
rs202085731
|
|
NM_000528.4(MAN2B1):c.1110-18A>G
|
|
|
NM_000528.4(MAN2B1):c.1131C>T (p.Phe377=)
|
rs886054231
|
|
NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)
|
rs762375074
|
|
NM_000528.4(MAN2B1):c.1168G>T (p.Gly390Cys)
|
rs864621982
|
|
NM_000528.4(MAN2B1):c.1169G>C (p.Gly390Ala)
|
|
|
NM_000528.4(MAN2B1):c.1179C>T (p.Ser393=)
|
rs745391577
|
|
NM_000528.4(MAN2B1):c.1199G>A (p.Arg400His)
|
|
|
NM_000528.4(MAN2B1):c.1204G>C (p.Glu402Gln)
|
|
|
NM_000528.4(MAN2B1):c.1230+3G>A
|
|
|
NM_000528.4(MAN2B1):c.1230+8G>A
|
|
|
NM_000528.4(MAN2B1):c.1231-13C>T
|
rs372848519
|
|
NM_000528.4(MAN2B1):c.1250C>T (p.Ala417Val)
|
|
|
NM_000528.4(MAN2B1):c.1259G>A (p.Gly420Asp)
|
rs772853856
|
|
NM_000528.4(MAN2B1):c.1271A>G (p.Asn424Ser)
|
rs1322106502
|
|
NM_000528.4(MAN2B1):c.128C>A (p.Ala43Glu)
|
rs867517934
|
|
NM_000528.4(MAN2B1):c.1299T>A (p.Ser433Arg)
|
|
|
NM_000528.4(MAN2B1):c.1308_1309+2del
|
rs1555708282
|
|
NM_000528.4(MAN2B1):c.1310A>G (p.Asn437Ser)
|
|
|
NM_000528.4(MAN2B1):c.1333C>T (p.His445Tyr)
|
rs864621983
|
|
NM_000528.4(MAN2B1):c.1350C>A (p.Ser450Arg)
|
|
|
NM_000528.4(MAN2B1):c.1358C>A (p.Ser453Tyr)
|
rs864621984
|
|
NM_000528.4(MAN2B1):c.1358C>T (p.Ser453Phe)
|
rs864621984
|
|
NM_000528.4(MAN2B1):c.1370T>A (p.Val457Glu)
|
rs864621985
|
|
NM_000528.4(MAN2B1):c.1375_1377del (p.Asn459del)
|
|
|
NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)
|
rs775200333
|
|
NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=)
|
rs774396746
|
|
NM_000528.4(MAN2B1):c.1398G>T (p.Ala466=)
|
rs774396746
|
|
NM_000528.4(MAN2B1):c.1408G>A (p.Gly470Arg)
|
|
|
NM_000528.4(MAN2B1):c.1419+5G>T
|
rs540367946
|
|
NM_000528.4(MAN2B1):c.1419G>A (p.Glu473=)
|
|
|
NM_000528.4(MAN2B1):c.1422TCT[1] (p.Leu476del)
|
|
|
NM_000528.4(MAN2B1):c.142C>G (p.Arg48Gly)
|
|
|
NM_000528.4(MAN2B1):c.1454G>C (p.Gly485Ala)
|
rs373553609
|
|
NM_000528.4(MAN2B1):c.1454G>T (p.Gly485Val)
|
|
|
NM_000528.4(MAN2B1):c.1461A>C (p.Lys487Asn)
|
|
|
NM_000528.4(MAN2B1):c.1472C>T (p.Thr491Ile)
|
|
|
NM_000528.4(MAN2B1):c.1492A>G (p.Ile498Val)
|
rs1339651416
|
|
NM_000528.4(MAN2B1):c.1494C>G (p.Ile498Met)
|
|
|
NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter)
|
rs886054230
|
|
NM_000528.4(MAN2B1):c.1511G>C (p.Ser504Thr)
|
|
|
NM_000528.4(MAN2B1):c.1517C>A (p.Thr506Lys)
|
rs139255957
|
|
NM_000528.4(MAN2B1):c.1520C>T (p.Ala507Val)
|
|
|
NM_000528.4(MAN2B1):c.1525C>T (p.Arg509Cys)
|
|
|
NM_000528.4(MAN2B1):c.1527+3G>C
|
|
|
NM_000528.4(MAN2B1):c.1541T>C (p.Val514Ala)
|
rs1599349485
|
|
NM_000528.4(MAN2B1):c.1554G>A (p.Leu518=)
|
|
|
NM_000528.4(MAN2B1):c.1564G>A (p.Val522Met)
|
rs1211189249
|
|
NM_000528.4(MAN2B1):c.159+2T>C
|
rs1057516501
|
|
NM_000528.4(MAN2B1):c.1596A>C (p.Glu532Asp)
|
rs2023965888
|
|
NM_000528.4(MAN2B1):c.1598G>A (p.Gly533Asp)
|
rs2145253098
|
|
NM_000528.4(MAN2B1):c.1606G>A (p.Val536Ile)
|
|
|
NM_000528.4(MAN2B1):c.1631C>T (p.Thr544Ile)
|
|
|
NM_000528.4(MAN2B1):c.164G>T (p.Cys55Phe)
|
rs864621975
|
|
NM_000528.4(MAN2B1):c.1652T>C (p.Ile551Thr)
|
rs1475575364
|
|
NM_000528.4(MAN2B1):c.1660A>G (p.Ser554Gly)
|
|
|
NM_000528.4(MAN2B1):c.1667A>C (p.Asp556Ala)
|
|
|
NM_000528.4(MAN2B1):c.1682C>A (p.Pro561His)
|
|
|
NM_000528.4(MAN2B1):c.1682C>G (p.Pro561Arg)
|
|
|
NM_000528.4(MAN2B1):c.1684C>T (p.Pro562Ser)
|
rs1303843843
|
|
NM_000528.4(MAN2B1):c.1685C>A (p.Pro562Gln)
|
|
|
NM_000528.4(MAN2B1):c.1694T>C (p.Leu565Pro)
|
rs864621986
|
|
NM_000528.4(MAN2B1):c.1703C>G (p.Ala568Gly)
|
|
|
NM_000528.4(MAN2B1):c.1712C>A (p.Pro571His)
|
|
|
NM_000528.4(MAN2B1):c.1714G>T (p.Ala572Ser)
|
rs377104016
|
|
NM_000528.4(MAN2B1):c.1730C>G (p.Thr577Ser)
|
rs2145250460
|
|
NM_000528.4(MAN2B1):c.1739_1741del (p.Val580del)
|
|
|
NM_000528.4(MAN2B1):c.1741G>A (p.Ala581Thr)
|
rs2145250381
|
|
NM_000528.4(MAN2B1):c.1747G>A (p.Val583Met)
|
|
|
NM_000528.4(MAN2B1):c.1748T>A (p.Val583Glu)
|
rs2145250358
|
|
NM_000528.4(MAN2B1):c.1753C>G (p.Arg585Gly)
|
|
|
NM_000528.4(MAN2B1):c.1754G>T (p.Arg585Leu)
|
rs1374305848
|
|
NM_000528.4(MAN2B1):c.1771C>T (p.Arg591Cys)
|
|
|
NM_000528.4(MAN2B1):c.1787T>A (p.Ile596Asn)
|
rs769653813
|
|
NM_000528.4(MAN2B1):c.1787T>G (p.Ile596Ser)
|
|
|
NM_000528.4(MAN2B1):c.1799C>A (p.Ser600Tyr)
|
|
|
NM_000528.4(MAN2B1):c.1830+3G>A
|
|
|
NM_000528.4(MAN2B1):c.1830+3G>T
|
|
|
NM_000528.4(MAN2B1):c.1837C>T (p.Arg613Trp)
|
|
|
NM_000528.4(MAN2B1):c.1844C>T (p.Thr615Met)
|
|
|
NM_000528.4(MAN2B1):c.1863G>T (p.Gly621=)
|
rs2145240167
|
|
NM_000528.4(MAN2B1):c.1912C>T (p.Arg638Cys)
|
|
|
NM_000528.4(MAN2B1):c.1913G>C (p.Arg638Pro)
|
rs146725928
|
|
NM_000528.4(MAN2B1):c.1917G>C (p.Gln639His)
|
|
|
NM_000528.4(MAN2B1):c.1919C>A (p.Thr640Asn)
|
|
|
NM_000528.4(MAN2B1):c.1922TCT[1] (p.Phe642del)
|
rs779241409
|
|
NM_000528.4(MAN2B1):c.1933_1935del (p.Asn645del)
|
rs1599344435
|
|
NM_000528.4(MAN2B1):c.1936G>A (p.Ala646Thr)
|
|
|
NM_000528.4(MAN2B1):c.1960G>T (p.Asp654Tyr)
|
rs932247520
|
|
NM_000528.4(MAN2B1):c.1993A>C (p.Asn665His)
|
rs2023853658
|
|
NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu)
|
rs967834240
|
|
NM_000528.4(MAN2B1):c.1A>T (p.Met1Leu)
|
rs967834240
|
|
NM_000528.4(MAN2B1):c.2006C>G (p.Pro669Arg)
|
|
|
NM_000528.4(MAN2B1):c.2014G>C (p.Val672Leu)
|
|
|
NM_000528.4(MAN2B1):c.2021G>A (p.Arg674His)
|
|
|
NM_000528.4(MAN2B1):c.2036A>G (p.His679Arg)
|
|
|
NM_000528.4(MAN2B1):c.2046+6G>T
|
rs748175413
|
|
NM_000528.4(MAN2B1):c.2047A>G (p.Thr683Ala)
|
|
|
NM_000528.4(MAN2B1):c.2050C>A (p.Pro684Thr)
|
rs2023810273
|
|
NM_000528.4(MAN2B1):c.2097G>C (p.Gln699His)
|
|
|
NM_000528.4(MAN2B1):c.2144C>T (p.Ser715Leu)
|
|
|
NM_000528.4(MAN2B1):c.2147T>A (p.Val716Glu)
|
|
|
NM_000528.4(MAN2B1):c.2152_2165+1dup
|
|
|
NM_000528.4(MAN2B1):c.215A>T (p.His72Leu)
|
rs387906261
|
|
NM_000528.4(MAN2B1):c.2166-10_2166-2del
|
rs1555706734
|
|
NM_000528.4(MAN2B1):c.2180A>G (p.Lys727Arg)
|
|
|
NM_000528.4(MAN2B1):c.2181G>C (p.Lys727Asn)
|
|
|
NM_000528.4(MAN2B1):c.2206C>A (p.Pro736Thr)
|
|
|
NM_000528.4(MAN2B1):c.2224C>T (p.Arg742Cys)
|
|
|
NM_000528.4(MAN2B1):c.2234C>G (p.Thr745Arg)
|
rs864621987
|
|
NM_000528.4(MAN2B1):c.223G>C (p.Val75Leu)
|
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000528.4(MAN2B1):c.224T>A (p.Val75Glu)
|
rs938995975
|
|
NM_000528.4(MAN2B1):c.2267+5G>A
|
|
|
NM_000528.4(MAN2B1):c.2267+8dup
|
rs572289342
|
|
NM_000528.4(MAN2B1):c.2278C>G (p.Arg760Gly)
|
rs121434331
|
|
NM_000528.4(MAN2B1):c.2279G>C (p.Arg760Pro)
|
|
|
NM_000528.4(MAN2B1):c.227G>A (p.Gly76Asp)
|
|
|
NM_000528.4(MAN2B1):c.2282C>G (p.Pro761Arg)
|
|
|
NM_000528.4(MAN2B1):c.2285C>T (p.Thr762Ile)
|
|
|
NM_000528.4(MAN2B1):c.2306A>G (p.Glu769Gly)
|
|
|
NM_000528.4(MAN2B1):c.2309C>T (p.Pro770Leu)
|
|
|
NM_000528.4(MAN2B1):c.2329C>T (p.Pro777Ser)
|
rs1599340883
|
|
NM_000528.4(MAN2B1):c.233T>C (p.Leu78Pro)
|
rs1387086908
|
|
NM_000528.4(MAN2B1):c.2342G>A (p.Arg781Gln)
|
|
|
NM_000528.4(MAN2B1):c.2354C>T (p.Thr785Met)
|
|
|
NM_000528.4(MAN2B1):c.2355+6T>C
|
|
|
NM_000528.4(MAN2B1):c.2390G>A (p.Arg797His)
|
|
|
NM_000528.4(MAN2B1):c.2390G>T (p.Arg797Leu)
|
rs750957781
|
|
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)
|
rs398123456
|
|
NM_000528.4(MAN2B1):c.2398G>T (p.Gly800Trp)
|
rs398123456
|
|
NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp)
|
rs864621994
|
|
NM_000528.4(MAN2B1):c.2467C>T (p.Arg823Cys)
|
rs746805353
|
|
NM_000528.4(MAN2B1):c.2479G>C (p.Glu827Gln)
|
|
|
NM_000528.4(MAN2B1):c.2484_2485insAAGCCA (p.Pro828_Leu829insLysPro)
|
rs1555706406
|
|
NM_000528.4(MAN2B1):c.2497G>C (p.Gly833Arg)
|
rs144244650
|
|
NM_000528.4(MAN2B1):c.2500T>C (p.Ser834Pro)
|
|
|
NM_000528.4(MAN2B1):c.2506G>C (p.Ala836Pro)
|
rs140281123
|
|
NM_000528.4(MAN2B1):c.2516G>A (p.Arg839Gln)
|
rs2023749207
|
|
NM_000528.4(MAN2B1):c.2518G>C (p.Gly840Arg)
|
rs752079394
|
|
NM_000528.4(MAN2B1):c.2521C>T (p.Arg841Cys)
|
|
|
NM_000528.4(MAN2B1):c.2524C>T (p.His842Tyr)
|
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NM_000528.4(MAN2B1):c.2555C>T (p.Ala852Val)
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NM_000528.4(MAN2B1):c.2558C>T (p.Ala853Val)
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rs886054229
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NM_000528.4(MAN2B1):c.2572C>T (p.Leu858Phe)
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NM_000528.4(MAN2B1):c.2579C>T (p.Ala860Val)
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NM_000528.4(MAN2B1):c.2590G>A (p.Val864Ile)
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NM_000528.4(MAN2B1):c.259G>A (p.Gly87Arg)
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NM_000528.4(MAN2B1):c.2605G>A (p.Val869Met)
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NM_000528.4(MAN2B1):c.2618C>A (p.Pro873Gln)
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rs752022224
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NM_000528.4(MAN2B1):c.2618C>T (p.Pro873Leu)
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NM_000528.4(MAN2B1):c.2620G>C (p.Gly874Arg)
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NM_000528.4(MAN2B1):c.2626G>A (p.Gly876Ser)
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NM_000528.4(MAN2B1):c.2640T>A (p.Asn880Lys)
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rs763786776
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NM_000528.4(MAN2B1):c.2657G>A (p.Arg886His)
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NM_000528.4(MAN2B1):c.2665-28_2665-9del
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NM_000528.4(MAN2B1):c.2674C>A (p.Leu892Met)
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NM_000528.4(MAN2B1):c.2675T>C (p.Leu892Pro)
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rs864621989
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NM_000528.4(MAN2B1):c.2678G>A (p.Arg893His)
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NM_000528.4(MAN2B1):c.2680A>G (p.Arg894Gly)
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NM_000528.4(MAN2B1):c.2690C>T (p.Pro897Leu)
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NM_000528.4(MAN2B1):c.2696C>T (p.Ser899Leu)
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NM_000528.4(MAN2B1):c.2704C>G (p.Leu902Val)
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rs1301597273
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NM_000528.4(MAN2B1):c.2726G>A (p.Gly909Asp)
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rs2023720009
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NM_000528.4(MAN2B1):c.2736G>C (p.Met912Ile)
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NM_000528.4(MAN2B1):c.2740C>A (p.Leu914Met)
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NM_000528.4(MAN2B1):c.2746C>T (p.Arg916Cys)
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rs864621990
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NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)
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rs758765126
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NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=)
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rs1184081650
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NM_000528.4(MAN2B1):c.2758C>G (p.Gln920Glu)
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NM_000528.4(MAN2B1):c.2767G>T (p.Val923Leu)
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rs755553683
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NM_000528.4(MAN2B1):c.2796C>G (p.Ser932Arg)
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rs1403072896
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NM_000528.4(MAN2B1):c.2797G>A (p.Ala933Thr)
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NM_000528.4(MAN2B1):c.281A>G (p.His94Arg)
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NM_000528.4(MAN2B1):c.282C>A (p.His94Gln)
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NM_000528.4(MAN2B1):c.283G>C (p.Ala95Pro)
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rs754036398
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NM_000528.4(MAN2B1):c.2849G>C (p.Arg950Pro)
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rs139041112
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NM_000528.4(MAN2B1):c.285C>T (p.Ala95=)
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rs750997069
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NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=)
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rs148108322
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NM_000528.4(MAN2B1):c.286G>A (p.Gly96Ser)
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NM_000528.4(MAN2B1):c.2870T>C (p.Val957Ala)
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NM_000528.4(MAN2B1):c.2879A>G (p.Gln960Arg)
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rs2023711115
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NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=)
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rs1376771729
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NM_000528.4(MAN2B1):c.2885G>C (p.Arg962Pro)
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NM_000528.4(MAN2B1):c.2896T>G (p.Ser966Ala)
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rs1365532315
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NM_000528.4(MAN2B1):c.2903T>C (p.Leu968Pro)
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NM_000528.4(MAN2B1):c.2912C>T (p.Thr971Ile)
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rs2023709677
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NM_000528.4(MAN2B1):c.2927C>G (p.Pro976Arg)
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NM_000528.4(MAN2B1):c.2927C>T (p.Pro976Leu)
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rs766559062
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NM_000528.4(MAN2B1):c.2932C>A (p.Pro978Thr)
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rs763382948
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NM_000528.4(MAN2B1):c.293A>C (p.Gln98Pro)
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NM_000528.4(MAN2B1):c.295T>C (p.Tyr99His)
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rs794727484
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NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=)
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rs886054228
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NM_000528.4(MAN2B1):c.2992C>T (p.Arg998Cys)
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NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser)
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rs864621991
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NM_000528.4(MAN2B1):c.29T>G (p.Val10Gly)
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rs1169325876
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NM_000528.4(MAN2B1):c.2T>A (p.Met1Lys)
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rs1555710357
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NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr)
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rs1555710357
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NM_000528.4(MAN2B1):c.3002T>C (p.Leu1001Pro)
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NM_000528.4(MAN2B1):c.3004G>A (p.Ala1002Thr)
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NM_000528.4(MAN2B1):c.3013C>T (p.Gln1005Ter)
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NM_000528.4(MAN2B1):c.340C>T (p.Arg114Cys)
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NM_000528.4(MAN2B1):c.352T>G (p.Tyr118Asp)
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NM_000528.4(MAN2B1):c.376C>T (p.Arg126Cys)
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NM_000528.4(MAN2B1):c.415G>A (p.Val139Met)
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NM_000528.4(MAN2B1):c.422A>T (p.Asp141Val)
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NM_000528.4(MAN2B1):c.427G>A (p.Val143Met)
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NM_000528.4(MAN2B1):c.430C>T (p.Arg144Cys)
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NM_000528.4(MAN2B1):c.431G>A (p.Arg144His)
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NM_000528.4(MAN2B1):c.451G>A (p.Ala151Thr)
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NM_000528.4(MAN2B1):c.454A>T (p.Asn152Tyr)
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NM_000528.4(MAN2B1):c.461G>A (p.Gly154Asp)
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NM_000528.4(MAN2B1):c.496G>A (p.Gly166Ser)
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rs749680035
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NM_000528.4(MAN2B1):c.502A>G (p.Ile168Val)
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NM_000528.4(MAN2B1):c.545C>T (p.Thr182Ile)
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NM_000528.4(MAN2B1):c.554A>G (p.Asn185Ser)
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NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)
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rs864621977
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NM_000528.4(MAN2B1):c.599A>T (p.His200Leu)
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rs864621978
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NM_000528.4(MAN2B1):c.5G>T (p.Gly2Val)
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NM_000528.4(MAN2B1):c.604C>A (p.Arg202=)
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NM_000528.4(MAN2B1):c.605G>C (p.Arg202Pro)
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rs864621979
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NM_000528.4(MAN2B1):c.630+5G>A
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NM_000528.4(MAN2B1):c.639C>G (p.Phe213Leu)
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NM_000528.4(MAN2B1):c.639C>T (p.Phe213=)
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rs886054233
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NM_000528.4(MAN2B1):c.640G>A (p.Asp214Asn)
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NM_000528.4(MAN2B1):c.640G>C (p.Asp214His)
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NM_000528.4(MAN2B1):c.658C>T (p.Arg220Cys)
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NM_000528.4(MAN2B1):c.665A>G (p.Asp222Gly)
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NM_000528.4(MAN2B1):c.671A>G (p.Gln224Arg)
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NM_000528.4(MAN2B1):c.673G>C (p.Asp225His)
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rs2024165338
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NM_000528.4(MAN2B1):c.743C>G (p.Pro248Arg)
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rs117843968
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NM_000528.4(MAN2B1):c.748G>A (p.Ala250Thr)
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NM_000528.4(MAN2B1):c.749C>T (p.Ala250Val)
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NM_000528.4(MAN2B1):c.752A>T (p.Asp251Val)
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NM_000528.4(MAN2B1):c.762T>C (p.Thr254=)
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rs2024162767
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NM_000528.4(MAN2B1):c.763G>C (p.Gly255Arg)
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NM_000528.4(MAN2B1):c.776A>G (p.Asn259Ser)
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NM_000528.4(MAN2B1):c.777T>G (p.Asn259Lys)
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NM_000528.4(MAN2B1):c.779G>T (p.Gly260Val)
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NM_000528.4(MAN2B1):c.784_786del (p.Asn262del)
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rs1555709511
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NM_000528.4(MAN2B1):c.787C>T (p.Pro263Ser)
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NM_000528.4(MAN2B1):c.7G>A (p.Ala3Thr)
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NM_000528.4(MAN2B1):c.836T>C (p.Val279Ala)
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NM_000528.4(MAN2B1):c.838G>A (p.Glu280Lys)
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NM_000528.4(MAN2B1):c.847C>T (p.Arg283Cys)
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NM_000528.4(MAN2B1):c.848G>A (p.Arg283His)
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NM_000528.4(MAN2B1):c.880G>A (p.Asp294Asn)
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rs973412688
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NM_000528.4(MAN2B1):c.894T>G (p.Asn298Lys)
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NM_000528.4(MAN2B1):c.899C>T (p.Ala300Val)
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NM_000528.4(MAN2B1):c.8C>T (p.Ala3Val)
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NM_000528.4(MAN2B1):c.901A>G (p.Thr301Ala)
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NM_000528.4(MAN2B1):c.904G>T (p.Ala302Ser)
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NM_000528.4(MAN2B1):c.905C>T (p.Ala302Val)
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NM_000528.4(MAN2B1):c.910G>A (p.Gly304Ser)
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rs2024102051
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NM_000528.4(MAN2B1):c.913C>T (p.Arg305Trp)
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rs202100368
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NM_000528.4(MAN2B1):c.923G>A (p.Arg308His)
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NM_000528.4(MAN2B1):c.92C>T (p.Pro31Leu)
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NM_000528.4(MAN2B1):c.940A>T (p.Met314Leu)
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NM_000528.4(MAN2B1):c.955G>C (p.Asp319His)
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rs1251243232
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NM_000528.4(MAN2B1):c.956A>G (p.Asp319Gly)
|
rs1222864490
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NM_000528.4(MAN2B1):c.981G>T (p.Met327Ile)
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rs2145272922
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NM_000528.4(MAN2B1):c.997G>C (p.Asp333His)
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NM_000545.8(HNF1A):c.1012G>A (p.Gly338Ser)
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NM_000545.8(HNF1A):c.1060A>G (p.Thr354Ala)
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rs1877098583
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NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr)
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rs754729248
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NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
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NM_000545.8(HNF1A):c.1235T>C (p.Met412Thr)
|
rs747433197
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NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del)
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rs544842497
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NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu)
|
rs193922580
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NM_000545.8(HNF1A):c.1524G>T (p.Glu508Asp)
|
rs1877291173
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NM_000545.8(HNF1A):c.1544_1545delinsGA (p.Thr515Arg)
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NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala)
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rs587778393
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NM_000545.8(HNF1A):c.1594G>A (p.Ala532Thr)
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rs1421619915
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NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met)
|
rs372624970
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NM_000545.8(HNF1A):c.1623+3A>G
|
rs886038347
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NM_000545.8(HNF1A):c.1623G>C (p.Gln541His)
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NM_000545.8(HNF1A):c.1687A>G (p.Thr563Ala)
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rs1877313665
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NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro)
|
rs1877318918
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NM_000545.8(HNF1A):c.1731C>A (p.His577Gln)
|
rs1877319456
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NM_000545.8(HNF1A):c.1733del (p.Leu578fs)
|
rs1592898227
|
|
NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly)
|
rs137853239
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NM_000545.8(HNF1A):c.1768+11C>T
|
rs886049034
|
|
NM_000545.8(HNF1A):c.1768+65dup
|
rs193922590
|
|
NM_000545.8(HNF1A):c.1819dup (p.Gln607fs)
|
rs1555212747
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NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr)
|
rs2135854619
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NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met)
|
rs193922591
|
|
NM_000545.8(HNF1A):c.1869del (p.Thr624fs)
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NM_000545.8(HNF1A):c.205G>A (p.Gly69Ser)
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NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu)
|
rs193922593
|
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NM_000545.8(HNF1A):c.326+4A>G
|
rs193922595
|
|
NM_000545.8(HNF1A):c.327-14T>C
|
rs886049033
|
|
NM_000545.8(HNF1A):c.343G>T (p.Val115Leu)
|
rs1876667856
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|
NM_000545.8(HNF1A):c.355G>A (p.Val119Ile)
|
rs1179591039
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|
NM_000545.8(HNF1A):c.358A>G (p.Lys120Glu)
|
|
|
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup)
|
rs193922596
|
|
NM_000545.8(HNF1A):c.431T>C (p.Leu144Pro)
|
|
|
NM_000545.8(HNF1A):c.490A>C (p.Thr164Pro)
|
rs772597940
|
|
NM_000545.8(HNF1A):c.496T>C (p.Tyr166His)
|
|
|
NM_000545.8(HNF1A):c.526+2dup
|
rs1555211448
|
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NM_000545.8(HNF1A):c.60G>C (p.Gly20=)
|
rs1449504165
|
|
NM_000545.8(HNF1A):c.663GAA[1] (p.Lys222del)
|
rs193922599
|
|
NM_000545.8(HNF1A):c.703G>C (p.Glu235Gln)
|
rs1353807357
|
|
NM_000545.8(HNF1A):c.713+10C>T
|
|
|
NM_000545.8(HNF1A):c.733G>A (p.Gly245Arg)
|
rs2135841196
|
|
NM_000545.8(HNF1A):c.737T>C (p.Val246Ala)
|
rs2135841238
|
|
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)
|
rs1288094664
|
|
NM_000545.8(HNF1A):c.823G>A (p.Glu275Lys)
|
rs2135841942
|
|
NM_000545.8(HNF1A):c.862G>T (p.Gly288Trp)
|
rs539507291
|
|
NM_000545.8(HNF1A):c.865C>T (p.Pro289Ser)
|
rs765829022
|
|
NM_000545.8(HNF1A):c.866C>G (p.Pro289Arg)
|
rs267603343
|
|
NM_000545.8(HNF1A):c.871C>A (p.Pro291Thr)
|
rs151256267
|
|
NM_000545.8(HNF1A):c.871C>G (p.Pro291Ala)
|
rs151256267
|
|
NM_000545.8(HNF1A):c.872C>T (p.Pro291Leu)
|
rs193922606
|
|
NM_000545.8(HNF1A):c.977C>T (p.Ala326Val)
|
rs369764257
|
|
NM_000642.3(AGL):c.*105T>C
|
rs886044924
|
|
NM_000642.3(AGL):c.*1817G>A
|
rs1247253899
|
|
NM_000642.3(AGL):c.*1T>A
|
rs1422276999
|
|
NM_000642.3(AGL):c.*615A>G
|
rs1655565207
|
|
NM_000642.3(AGL):c.*83C>G
|
rs1655526406
|
|
NM_000642.3(AGL):c.-69+1G>C
|
rs1413359590
|
|
NM_000642.3(AGL):c.-82A>G
|
rs1648854148
|
|
NM_000642.3(AGL):c.1001C>T (p.Thr334Met)
|
rs140348042
|
|
NM_000642.3(AGL):c.1006A>G (p.Ile336Val)
|
rs1651355891
|
|
NM_000642.3(AGL):c.1010A>C (p.Gln337Pro)
|
rs1651356099
|
|
NM_000642.3(AGL):c.1022A>G (p.Tyr341Cys)
|
rs1651357240
|
|
NM_000642.3(AGL):c.1024A>G (p.Arg342Gly)
|
rs1216156102
|
|
NM_000642.3(AGL):c.1027C>T (p.Arg343Trp)
|
rs1131691438
|
|
NM_000642.3(AGL):c.1039A>G (p.Thr347Ala)
|
|
|
NM_000642.3(AGL):c.1049T>A (p.Met350Lys)
|
|
|
NM_000642.3(AGL):c.1049T>G (p.Met350Arg)
|
rs761122742
|
|
NM_000642.3(AGL):c.1054A>G (p.Ile352Val)
|
rs1651360894
|
|
NM_000642.3(AGL):c.1064C>A (p.Thr355Lys)
|
rs557516658
|
|
NM_000642.3(AGL):c.106G>A (p.Gly36Ser)
|
rs746977667
|
|
NM_000642.3(AGL):c.106G>C (p.Gly36Arg)
|
|
|
NM_000642.3(AGL):c.1072A>G (p.Ile358Val)
|
rs923537550
|
|
NM_000642.3(AGL):c.1076_1078dup (p.Pro359_His360insPro)
|
rs750705888
|
|
NM_000642.3(AGL):c.1082+3A>G
|
rs757095271
|
|
NM_000642.3(AGL):c.1083C>G (p.Asp361Glu)
|
rs928357712
|
|
NM_000642.3(AGL):c.1086G>T (p.Lys362Asn)
|
rs1360892895
|
|
NM_000642.3(AGL):c.1096G>A (p.Ala366Thr)
|
|
|
NM_000642.3(AGL):c.1119G>T (p.Trp373Cys)
|
|
|
NM_000642.3(AGL):c.112A>T (p.Thr38Ser)
|
|
|
NM_000642.3(AGL):c.1138G>A (p.Glu380Lys)
|
|
|
NM_000642.3(AGL):c.1139A>G (p.Glu380Gly)
|
rs1045745115
|
|
NM_000642.3(AGL):c.113C>G (p.Thr38Ser)
|
rs1557746521
|
|
NM_000642.3(AGL):c.1166T>A (p.Ile389Asn)
|
rs2101127992
|
|
NM_000642.3(AGL):c.1185G>A (p.Gln395=)
|
|
|
NM_000642.3(AGL):c.1186-3C>G
|
rs1651432625
|
|
NM_000642.3(AGL):c.1211T>C (p.Val404Ala)
|
|
|
NM_000642.3(AGL):c.1220A>G (p.Glu407Gly)
|
|
|
NM_000642.3(AGL):c.1223G>A (p.Arg408Gln)
|
|
|
NM_000642.3(AGL):c.122G>A (p.Gly41Glu)
|
|
|
NM_000642.3(AGL):c.1234C>T (p.His412Tyr)
|
rs1651438326
|
|
NM_000642.3(AGL):c.1237G>A (p.Gly413Ser)
|
rs767865657
|
|
NM_000642.3(AGL):c.1238G>A (p.Gly413Asp)
|
|
|
NM_000642.3(AGL):c.1241C>A (p.Pro414Gln)
|
rs758882822
|
|
NM_000642.3(AGL):c.1252C>A (p.Pro418Thr)
|
rs2101128717
|
|
NM_000642.3(AGL):c.1263A>G (p.Arg421=)
|
rs1175506369
|
|
NM_000642.3(AGL):c.1266_1268del (p.Lys422_His423delinsAsn)
|
rs1553185488
|
|
NM_000642.3(AGL):c.1267C>T (p.His423Tyr)
|
|
|
NM_000642.3(AGL):c.1276G>A (p.Val426Ile)
|
|
|
NM_000642.3(AGL):c.1284-3T>C
|
|
|
NM_000642.3(AGL):c.1284-4A>T
|
rs372612377
|
|
NM_000642.3(AGL):c.1308G>C (p.Glu436Asp)
|
rs2101132003
|
|
NM_000642.3(AGL):c.1309A>G (p.Ile437Val)
|
|
|
NM_000642.3(AGL):c.1311A>G (p.Ile437Met)
|
|
|
NM_000642.3(AGL):c.1319C>A (p.Ser440Tyr)
|
rs149771710
|
|
NM_000642.3(AGL):c.1322T>C (p.Met441Thr)
|
|
|
NM_000642.3(AGL):c.1326A>G (p.Glu442=)
|
rs886044919
|
|
NM_000642.3(AGL):c.1338T>G (p.Ile446Met)
|
|
|
NM_000642.3(AGL):c.1351A>G (p.Lys451Glu)
|
|
|
NM_000642.3(AGL):c.136G>A (p.Val46Met)
|
rs762935611
|
|
NM_000642.3(AGL):c.136G>C (p.Val46Leu)
|
|
|
NM_000642.3(AGL):c.136G>T (p.Val46Leu)
|
rs762935611
|
|
NM_000642.3(AGL):c.1379G>A (p.Gly460Glu)
|
|
|
NM_000642.3(AGL):c.1381T>C (p.Trp461Arg)
|
rs1651550127
|
|
NM_000642.3(AGL):c.1395T>G (p.Asp465Glu)
|
|
|
NM_000642.3(AGL):c.1405C>G (p.Arg469Gly)
|
rs766536350
|
|
NM_000642.3(AGL):c.1406G>A (p.Arg469Gln)
|
|
|
NM_000642.3(AGL):c.1421C>G (p.Pro474Arg)
|
rs146493448
|
|
NM_000642.3(AGL):c.1421C>T (p.Pro474Leu)
|
rs146493448
|
|
NM_000642.3(AGL):c.1424G>A (p.Gly475Asp)
|
|
|
NM_000642.3(AGL):c.1431A>C (p.Glu477Asp)
|
|
|
NM_000642.3(AGL):c.1432G>C (p.Val478Leu)
|
|
|
NM_000642.3(AGL):c.1450C>A (p.Leu484Ile)
|
|
|
NM_000642.3(AGL):c.1457G>A (p.Cys486Tyr)
|
rs1651660863
|
|
NM_000642.3(AGL):c.1459T>C (p.Trp487Arg)
|
rs1557760604
|
|
NM_000642.3(AGL):c.1460G>T (p.Trp487Leu)
|
rs2101136214
|
|
NM_000642.3(AGL):c.1462G>A (p.Gly488Arg)
|
|
|
NM_000642.3(AGL):c.1463G>C (p.Gly488Ala)
|
|
|
NM_000642.3(AGL):c.1467C>G (p.Asp489Glu)
|
|
|
NM_000642.3(AGL):c.1489A>G (p.Asn497Asp)
|
|
|
NM_000642.3(AGL):c.1526T>G (p.Met509Arg)
|
rs1367177057
|
|
NM_000642.3(AGL):c.1543A>C (p.Ile515Leu)
|
|
|
NM_000642.3(AGL):c.1543A>G (p.Ile515Val)
|
|
|
NM_000642.3(AGL):c.1549G>C (p.Ala517Pro)
|
|
|
NM_000642.3(AGL):c.1555T>G (p.Tyr519Asp)
|
rs1651672111
|
|
NM_000642.3(AGL):c.1582T>A (p.Cys528Ser)
|
rs1570438541
|
|
NM_000642.3(AGL):c.1592C>G (p.Thr531Arg)
|
rs2101136921
|
|
NM_000642.3(AGL):c.1603G>A (p.Val535Ile)
|
|
|
NM_000642.3(AGL):c.160G>A (p.Gly54Arg)
|
|
|
NM_000642.3(AGL):c.1611+15_1611+17del
|
|
|
NM_000642.3(AGL):c.1611+4C>T
|
|
|
NM_000642.3(AGL):c.1612-3C>T
|
rs1286941369
|
|
NM_000642.3(AGL):c.1612-8T>A
|
rs1557762522
|
|
NM_000642.3(AGL):c.1615A>G (p.Met539Val)
|
rs764106633
|
|
NM_000642.3(AGL):c.1615A>T (p.Met539Leu)
|
rs764106633
|
|
NM_000642.3(AGL):c.1627G>A (p.Ala543Thr)
|
rs749550642
|
|
NM_000642.3(AGL):c.1643C>G (p.Pro548Arg)
|
|
|
NM_000642.3(AGL):c.1661C>T (p.Ala554Val)
|
rs1651873917
|
|
NM_000642.3(AGL):c.1669T>C (p.Phe557Leu)
|
|
|
NM_000642.3(AGL):c.1671C>A (p.Phe557Leu)
|
rs1651875081
|
|
NM_000642.3(AGL):c.1690G>A (p.Asp564Asn)
|
|
|
NM_000642.3(AGL):c.1690G>T (p.Asp564Tyr)
|
rs1393453150
|
|
NM_000642.3(AGL):c.1693A>G (p.Asn565Asp)
|
rs2101145600
|
|
NM_000642.3(AGL):c.1697T>A (p.Val566Asp)
|
|
|
NM_000642.3(AGL):c.169T>C (p.Phe57Leu)
|
rs756476562
|
|
NM_000642.3(AGL):c.1709G>T (p.Arg570Ile)
|
|
|
NM_000642.3(AGL):c.1710A>T (p.Arg570Ser)
|
|
|
NM_000642.3(AGL):c.1715G>A (p.Gly572Asp)
|
rs1651880309
|
|
NM_000642.3(AGL):c.1715G>T (p.Gly572Val)
|
rs1651880309
|
|
NM_000642.3(AGL):c.1718_1720dup (p.Ile573_Ser574insIle)
|
rs1553186221
|
|
NM_000642.3(AGL):c.1727TAA[1] (p.Ile577del)
|
rs1361477641
|
|
NM_000642.3(AGL):c.1729A>T (p.Ile577Leu)
|
|
|
NM_000642.3(AGL):c.1735+5G>A
|
|
|
NM_000642.3(AGL):c.1735+5dup
|
rs766616589
|
|
NM_000642.3(AGL):c.1735G>C (p.Glu579Gln)
|
|
|
NM_000642.3(AGL):c.1758T>C (p.Ser586=)
|
|
|
NM_000642.3(AGL):c.1768G>A (p.Gly590Ser)
|
rs1651935929
|
|
NM_000642.3(AGL):c.1777G>C (p.Val593Leu)
|
rs1312675872
|
|
NM_000642.3(AGL):c.1785A>G (p.Arg595=)
|
|
|
NM_000642.3(AGL):c.1790G>A (p.Gly597Glu)
|
|
|
NM_000642.3(AGL):c.1792G>C (p.Gly598Arg)
|
|
|
NM_000642.3(AGL):c.1794A>G (p.Gly598=)
|
rs1651940013
|
|
NM_000642.3(AGL):c.1822T>C (p.Cys608Arg)
|
|
|
NM_000642.3(AGL):c.1822T>G (p.Cys608Gly)
|
|
|
NM_000642.3(AGL):c.1823G>A (p.Cys608Tyr)
|
rs1317587334
|
|
NM_000642.3(AGL):c.1829G>A (p.Arg610Lys)
|
rs781127120
|
|
NM_000642.3(AGL):c.1832C>A (p.Pro611His)
|
|
|
NM_000642.3(AGL):c.1863T>G (p.Phe621Leu)
|
|
|
NM_000642.3(AGL):c.1864A>G (p.Met622Val)
|
rs145517369
|
|
NM_000642.3(AGL):c.186C>G (p.Phe62Leu)
|
rs146234738
|
|
NM_000642.3(AGL):c.1877A>G (p.His626Arg)
|
rs1553186368
|
|
NM_000642.3(AGL):c.1879G>T (p.Asp627Tyr)
|
rs1553186370
|
|
NM_000642.3(AGL):c.1882A>C (p.Asn628His)
|
|
|
NM_000642.3(AGL):c.1883A>G (p.Asn628Ser)
|
rs1651950655
|
|
NM_000642.3(AGL):c.1887G>C (p.Glu629Asp)
|
|
|
NM_000642.3(AGL):c.1892C>G (p.Pro631Arg)
|
rs1553186376
|
|
NM_000642.3(AGL):c.1898T>C (p.Val633Ala)
|
|
|
NM_000642.3(AGL):c.1899+4A>C
|
|
|
NM_000642.3(AGL):c.1899G>T (p.Val633=)
|
rs2101149424
|
|
NM_000642.3(AGL):c.1900-13T>A
|
rs533280246
|
|
NM_000642.3(AGL):c.1912T>C (p.Tyr638His)
|
|
|
NM_000642.3(AGL):c.1913ATG[3] (p.Asp639_Ala640insAsp)
|
rs1553186447
|
|
NM_000642.3(AGL):c.1918G>T (p.Ala640Ser)
|
|
|
NM_000642.3(AGL):c.1919C>T (p.Ala640Val)
|
|
|
NM_000642.3(AGL):c.193C>G (p.Leu65Val)
|
rs772086117
|
|
NM_000642.3(AGL):c.1945A>G (p.Met649Val)
|
rs1277302034
|
|
NM_000642.3(AGL):c.1970C>T (p.Thr657Ile)
|
rs1245600149
|
|
NM_000642.3(AGL):c.1972A>G (p.Arg658Gly)
|
rs1173312923
|
|
NM_000642.3(AGL):c.1979A>G (p.Tyr660Cys)
|
|
|
NM_000642.3(AGL):c.1994C>T (p.Pro665Leu)
|
|
|
NM_000642.3(AGL):c.2001+8_2001+9delinsCG
|
rs1064794512
|
|
NM_000642.3(AGL):c.2022A>C (p.Glu674Asp)
|
|
|
NM_000642.3(AGL):c.2033C>G (p.Thr678Ser)
|
rs1198908336
|
|
NM_000642.3(AGL):c.2033C>T (p.Thr678Ile)
|
|
|
NM_000642.3(AGL):c.2059T>G (p.Ser687Ala)
|
|
|
NM_000642.3(AGL):c.206A>G (p.Asn69Ser)
|
|
|
NM_000642.3(AGL):c.2084A>G (p.Gln695Arg)
|
rs778021848
|
|
NM_000642.3(AGL):c.2089G>A (p.Gly697Ser)
|
rs771211030
|
|
NM_000642.3(AGL):c.2089G>T (p.Gly697Cys)
|
rs771211030
|
|
NM_000642.3(AGL):c.2090G>A (p.Gly697Asp)
|
|
|
NM_000642.3(AGL):c.2091C>T (p.Gly697=)
|
rs759619501
|
|
NM_000642.3(AGL):c.2092A>G (p.Ile698Val)
|
rs1257346542
|
|
NM_000642.3(AGL):c.2107T>C (p.Cys703Arg)
|
rs2100759729
|
|
NM_000642.3(AGL):c.2113A>G (p.Ile705Val)
|
rs1570445259
|
|
NM_000642.3(AGL):c.2116A>G (p.Ser706Gly)
|
|
|
NM_000642.3(AGL):c.2135T>C (p.Leu712Pro)
|
rs2100759804
|
|
NM_000642.3(AGL):c.2137G>A (p.Gly713Arg)
|
rs763281839
|
|
NM_000642.3(AGL):c.2149T>C (p.Phe717Leu)
|
|
|
NM_000642.3(AGL):c.214G>C (p.Glu72Gln)
|
|
|
NM_000642.3(AGL):c.2157+5G>T
|
|
|
NM_000642.3(AGL):c.2158-3C>A
|
|
|
NM_000642.3(AGL):c.2172A>G (p.Gln724=)
|
rs1553186596
|
|
NM_000642.3(AGL):c.2173G>A (p.Val725Ile)
|
rs1269529478
|
|
NM_000642.3(AGL):c.2174T>C (p.Val725Ala)
|
|
|
NM_000642.3(AGL):c.2181_2183del (p.Glu727del)
|
rs1652029472
|
|
NM_000642.3(AGL):c.2194G>A (p.Val732Ile)
|
|
|
NM_000642.3(AGL):c.219AGA[1] (p.Glu74del)
|
rs1553183207
|
|
NM_000642.3(AGL):c.2204A>C (p.His735Pro)
|
rs749756974
|
|
NM_000642.3(AGL):c.2215A>G (p.Ile739Val)
|
rs1652034992
|
|
NM_000642.3(AGL):c.2219A>C (p.His740Pro)
|
|
|
NM_000642.3(AGL):c.2228T>C (p.Val743Ala)
|
|
|
NM_000642.3(AGL):c.2236G>A (p.Val746Ile)
|
rs1652038002
|
|
NM_000642.3(AGL):c.223G>A (p.Asp75Asn)
|
rs1650046049
|
|
NM_000642.3(AGL):c.2242A>G (p.Arg748Gly)
|
rs1652038882
|
|
NM_000642.3(AGL):c.2243G>T (p.Arg748Ile)
|
|
|
NM_000642.3(AGL):c.2245A>T (p.Thr749Ser)
|
rs891610687
|
|
NM_000642.3(AGL):c.2264A>G (p.Lys755Arg)
|
rs1419239485
|
|
NM_000642.3(AGL):c.226G>A (p.Asp76Asn)
|
|
|
NM_000642.3(AGL):c.2275T>C (p.Tyr759His)
|
rs1652041472
|
|
NM_000642.3(AGL):c.2279G>A (p.Ser760Asn)
|
rs1557764702
|
|
NM_000642.3(AGL):c.2283G>T (p.Lys761Asn)
|
|
|
NM_000642.3(AGL):c.2291C>T (p.Pro764Leu)
|
rs2100760670
|
|
NM_000642.3(AGL):c.2303T>A (p.Ile768Asn)
|
rs1652043382
|
|
NM_000642.3(AGL):c.2308+6G>A
|
rs2100760748
|
|
NM_000642.3(AGL):c.2318AAG[1] (p.Glu774del)
|
rs766308910
|
|
NM_000642.3(AGL):c.2326G>T (p.Val776Phe)
|
|
|
NM_000642.3(AGL):c.2332G>A (p.Glu778Lys)
|
rs1173769424
|
|
NM_000642.3(AGL):c.2339G>T (p.Arg780Ile)
|
|
|
NM_000642.3(AGL):c.2357C>A (p.Thr786Lys)
|
|
|
NM_000642.3(AGL):c.235A>G (p.Lys79Glu)
|
rs1650047298
|
|
NM_000642.3(AGL):c.2365T>C (p.Tyr789His)
|
rs1652264808
|
|
NM_000642.3(AGL):c.2372A>G (p.Lys791Arg)
|
rs1557766791
|
|
NM_000642.3(AGL):c.2384C>T (p.Ser795Leu)
|
|
|
NM_000642.3(AGL):c.2404A>G (p.Ile802Val)
|
|
|
NM_000642.3(AGL):c.2407A>G (p.Thr803Ala)
|
|
|
NM_000642.3(AGL):c.2434-5T>C
|
|
|
NM_000642.3(AGL):c.2446A>G (p.Lys816Glu)
|
rs1652283067
|
|
NM_000642.3(AGL):c.2465G>A (p.Gly822Glu)
|
rs752820851
|
|
NM_000642.3(AGL):c.2467G>A (p.Val823Ile)
|
|
|
NM_000642.3(AGL):c.2470G>A (p.Ala824Thr)
|
rs1173687543
|
|
NM_000642.3(AGL):c.2473A>G (p.Thr825Ala)
|
|
|
NM_000642.3(AGL):c.2491T>C (p.Tyr831His)
|
rs2100768935
|
|
NM_000642.3(AGL):c.2492A>G (p.Tyr831Cys)
|
|
|
NM_000642.3(AGL):c.2498A>C (p.Gln833Pro)
|
|
|
NM_000642.3(AGL):c.2498A>G (p.Gln833Arg)
|
|
|
NM_000642.3(AGL):c.2505A>G (p.Ile835Met)
|
rs1652287991
|
|
NM_000642.3(AGL):c.2522C>A (p.Ser841Tyr)
|
rs150441555
|
|
NM_000642.3(AGL):c.2537T>C (p.Ile846Thr)
|
rs1570451577
|
|
NM_000642.3(AGL):c.2560C>A (p.Pro854Thr)
|
rs1652304925
|
|
NM_000642.3(AGL):c.2566G>A (p.Ala856Thr)
|
rs2100769660
|
|
NM_000642.3(AGL):c.2570A>C (p.Gln857Pro)
|
|
|
NM_000642.3(AGL):c.2575G>T (p.Ala859Ser)
|
|
|
NM_000642.3(AGL):c.2578G>A (p.Val860Ile)
|
rs1652307305
|
|
NM_000642.3(AGL):c.2585T>A (p.Ile862Asn)
|
|
|
NM_000642.3(AGL):c.2600T>C (p.Leu867Pro)
|
|
|
NM_000642.3(AGL):c.2607A>T (p.Gln869His)
|
|
|
NM_000642.3(AGL):c.2612G>A (p.Ser871Asn)
|
|
|
NM_000642.3(AGL):c.2614C>T (p.Pro872Ser)
|
|
|
NM_000642.3(AGL):c.2623A>C (p.Lys875Gln)
|
|
|
NM_000642.3(AGL):c.2623A>G (p.Lys875Glu)
|
rs750932668
|
|
NM_000642.3(AGL):c.2629G>C (p.Gly877Arg)
|
|
|
NM_000642.3(AGL):c.2638G>C (p.Ala880Pro)
|
|
|
NM_000642.3(AGL):c.2659A>G (p.Ile887Val)
|
|
|
NM_000642.3(AGL):c.266G>A (p.Gly89Asp)
|
|
|
NM_000642.3(AGL):c.2671C>T (p.Pro891Ser)
|
rs777738895
|
|
NM_000642.3(AGL):c.2677G>C (p.Ala893Pro)
|
rs1652316880
|
|
NM_000642.3(AGL):c.2678C>T (p.Ala893Val)
|
rs1652317076
|
|
NM_000642.3(AGL):c.2681+4dup
|
rs754242194
|
|
NM_000642.3(AGL):c.2699C>G (p.Thr900Ser)
|
|
|
NM_000642.3(AGL):c.2707G>A (p.Glu903Lys)
|
rs2100778885
|
|
NM_000642.3(AGL):c.2708A>C (p.Glu903Ala)
|
rs2100778892
|
|
NM_000642.3(AGL):c.2711_2717delinsCAAAGGATCTGAT (p.Leu904_Gln906delinsProLysAspLeuMet)
|
rs1288036533
|
|
NM_000642.3(AGL):c.2718G>C (p.Gln906His)
|
|
|
NM_000642.3(AGL):c.2729G>T (p.Arg910Leu)
|
rs369044372
|
|
NM_000642.3(AGL):c.2752G>A (p.Asp918Asn)
|
|
|
NM_000642.3(AGL):c.2768A>G (p.Tyr923Cys)
|
rs2100779074
|
|
NM_000642.3(AGL):c.2802_2803delinsCA (p.Gly935Ser)
|
rs2100779264
|
|
NM_000642.3(AGL):c.2806C>T (p.Leu936Phe)
|
rs1652591450
|
|
NM_000642.3(AGL):c.2812G>A (p.Gly938Ser)
|
rs922506679
|
|
NM_000642.3(AGL):c.2818A>G (p.Met940Val)
|
rs754850076
|
|
NM_000642.3(AGL):c.2819T>C (p.Met940Thr)
|
rs2100788224
|
|
NM_000642.3(AGL):c.2822C>G (p.Ser941Cys)
|
|
|
NM_000642.3(AGL):c.2824G>C (p.Val942Leu)
|
|
|
NM_000642.3(AGL):c.2840G>A (p.Arg947Lys)
|
|
|
NM_000642.3(AGL):c.2842C>T (p.Pro948Ser)
|
|
|
NM_000642.3(AGL):c.2849A>G (p.Asn950Ser)
|
|
|
NM_000642.3(AGL):c.2851G>A (p.Asp951Asn)
|
|
|
NM_000642.3(AGL):c.2857G>A (p.Gly953Arg)
|
rs1010866326
|
|
NM_000642.3(AGL):c.2884T>A (p.Ser962Thr)
|
rs1000217312
|
|
NM_000642.3(AGL):c.2896A>T (p.Met966Leu)
|
rs772843306
|
|
NM_000642.3(AGL):c.2908G>T (p.Val970Phe)
|
|
|
NM_000642.3(AGL):c.2909T>C (p.Val970Ala)
|
rs1570463733
|
|
NM_000642.3(AGL):c.2911A>G (p.Ser971Gly)
|
rs1211367569
|
|
NM_000642.3(AGL):c.2918G>A (p.Arg973Gln)
|
rs1012435007
|
|
NM_000642.3(AGL):c.2920C>T (p.Leu974Phe)
|
|
|
NM_000642.3(AGL):c.292G>A (p.Gly98Arg)
|
rs1557746870
|
|
NM_000642.3(AGL):c.292G>C (p.Gly98Arg)
|
|
|
NM_000642.3(AGL):c.2930G>T (p.Arg977Leu)
|
rs147977213
|
|
NM_000642.3(AGL):c.2936G>A (p.Gly979Glu)
|
rs1170310851
|
|
NM_000642.3(AGL):c.2949+2dup
|
rs1553188589
|
|
NM_000642.3(AGL):c.2949+6T>C
|
rs1557772463
|
|
NM_000642.3(AGL):c.2953G>A (p.Gly985Ser)
|
|
|
NM_000642.3(AGL):c.2975TCT[1] (p.Phe993del)
|
rs1553188647
|
|
NM_000642.3(AGL):c.2981A>C (p.Tyr994Ser)
|
rs1652908148
|
|
NM_000642.3(AGL):c.2990A>G (p.Gln997Arg)
|
rs1336041021
|
|
NM_000642.3(AGL):c.2998C>T (p.Arg1000Cys)
|
|
|
NM_000642.3(AGL):c.2999G>A (p.Arg1000His)
|
|
|
NM_000642.3(AGL):c.3001T>A (p.Tyr1001Asn)
|
|
|
NM_000642.3(AGL):c.3010C>G (p.Pro1004Ala)
|
rs1652911105
|
|
NM_000642.3(AGL):c.3019T>C (p.Phe1007Leu)
|
|
|
NM_000642.3(AGL):c.3020T>C (p.Phe1007Ser)
|
rs1652912052
|
|
NM_000642.3(AGL):c.3030A>G (p.Ile1010Met)
|
|
|
NM_000642.3(AGL):c.3040G>A (p.Ala1014Thr)
|
rs1652913374
|
|
NM_000642.3(AGL):c.3046A>T (p.Thr1016Ser)
|
rs1652914200
|
|
NM_000642.3(AGL):c.3049A>G (p.Thr1017Ala)
|
rs534210500
|
|
NM_000642.3(AGL):c.3049A>T (p.Thr1017Ser)
|
|
|
NM_000642.3(AGL):c.306TGG[1] (p.Gly105del)
|
rs775865279
|
|
NM_000642.3(AGL):c.3071A>G (p.Lys1024Arg)
|
|
|
NM_000642.3(AGL):c.3077T>C (p.Met1026Thr)
|
rs1570464667
|
|
NM_000642.3(AGL):c.3082A>C (p.Ser1028Arg)
|
|
|
NM_000642.3(AGL):c.3083+5_3083+6del
|
rs781189361
|
|
NM_000642.3(AGL):c.3085T>C (p.Phe1029Leu)
|
|
|
NM_000642.3(AGL):c.3098G>A (p.Gly1033Asp)
|
rs1255302658
|
|
NM_000642.3(AGL):c.3098G>T (p.Gly1033Val)
|
rs1255302658
|
|
NM_000642.3(AGL):c.3108T>A (p.Phe1036Leu)
|
|
|
NM_000642.3(AGL):c.310G>A (p.Gly104Arg)
|
rs745610775
|
|
NM_000642.3(AGL):c.3124T>G (p.Leu1042Val)
|
rs764821272
|
|
NM_000642.3(AGL):c.3127G>C (p.Gly1043Arg)
|
|
|
NM_000642.3(AGL):c.3131C>T (p.Ser1044Leu)
|
rs1166582494
|
|
NM_000642.3(AGL):c.3160C>T (p.Pro1054Ser)
|
rs1269370932
|
|
NM_000642.3(AGL):c.3166C>G (p.Leu1056Val)
|
rs774124715
|
|
NM_000642.3(AGL):c.3173T>G (p.Ile1058Ser)
|
|
|
NM_000642.3(AGL):c.3175C>T (p.Leu1059Phe)
|
rs868699590
|
|
NM_000642.3(AGL):c.3184G>T (p.Ala1062Ser)
|
rs1475224037
|
|
NM_000642.3(AGL):c.3191_3193dup (p.Met1064_Asp1065insVal)
|
rs1553188824
|
|
NM_000642.3(AGL):c.3193G>A (p.Asp1065Asn)
|
|
|
NM_000642.3(AGL):c.3195T>A (p.Asp1065Glu)
|
rs569268763
|
|
NM_000642.3(AGL):c.3199C>G (p.Pro1067Ala)
|
rs3753494
|
|
NM_000642.3(AGL):c.3207G>C (p.Arg1069Ser)
|
rs1346677449
|
|
NM_000642.3(AGL):c.3213T>A (p.Asn1071Lys)
|
rs765357864
|
|
NM_000642.3(AGL):c.3215A>T (p.Glu1072Val)
|
rs2100792880
|
|
NM_000642.3(AGL):c.3226G>A (p.Glu1076Lys)
|
|
|
NM_000642.3(AGL):c.323T>C (p.Val108Ala)
|
|
|
NM_000642.3(AGL):c.3242G>C (p.Cys1081Ser)
|
rs147375385
|
|
NM_000642.3(AGL):c.3259+3A>C
|
rs748859491
|
|
NM_000642.3(AGL):c.3260-3T>C
|
rs1021997139
|
|
NM_000642.3(AGL):c.326T>C (p.Val109Ala)
|
|
|
NM_000642.3(AGL):c.3283A>C (p.Ile1095Leu)
|
rs762157090
|
|
NM_000642.3(AGL):c.3283A>G (p.Ile1095Val)
|
rs762157090
|
|
NM_000642.3(AGL):c.3310T>G (p.Phe1104Val)
|
rs1653318386
|
|
NM_000642.3(AGL):c.3311T>G (p.Phe1104Cys)
|
rs1653318633
|
|
NM_000642.3(AGL):c.3314T>C (p.Ile1105Thr)
|
|
|
NM_000642.3(AGL):c.3319C>T (p.Leu1107Phe)
|
|
|
NM_000642.3(AGL):c.3347G>A (p.Arg1116His)
|
rs746779518
|
|
NM_000642.3(AGL):c.3347G>T (p.Arg1116Leu)
|
rs746779518
|
|
NM_000642.3(AGL):c.3349T>C (p.Tyr1117His)
|
|
|
NM_000642.3(AGL):c.3359C>G (p.Ala1120Gly)
|
rs1233797859
|
|
NM_000642.3(AGL):c.3361A>G (p.Arg1121Gly)
|
|
|
NM_000642.3(AGL):c.3362+5G>T
|
rs2100804143
|
|
NM_000642.3(AGL):c.3362G>T (p.Arg1121Met)
|
rs1653326843
|
|
NM_000642.3(AGL):c.3363G>A (p.Arg1121=)
|
|
|
NM_000642.3(AGL):c.3367A>G (p.Ile1123Val)
|
|
|
NM_000642.3(AGL):c.3371T>C (p.Ile1124Thr)
|
rs2100817894
|
|
NM_000642.3(AGL):c.3383C>T (p.Ala1128Val)
|
rs1225426505
|
|
NM_000642.3(AGL):c.3386G>A (p.Gly1129Asp)
|
rs779241109
|
|
NM_000642.3(AGL):c.3395G>A (p.Arg1132Lys)
|
rs1216059782
|
|
NM_000642.3(AGL):c.341G>C (p.Arg114Pro)
|
rs150146360
|
|
NM_000642.3(AGL):c.3422G>A (p.Gly1141Asp)
|
|
|
NM_000642.3(AGL):c.3428G>T (p.Gly1143Val)
|
|
|
NM_000642.3(AGL):c.3431T>C (p.Ile1144Thr)
|
|
|
NM_000642.3(AGL):c.3436G>A (p.Ala1146Thr)
|
|
|
NM_000642.3(AGL):c.3446A>G (p.Asn1149Ser)
|
|
|
NM_000642.3(AGL):c.344T>C (p.Val115Ala)
|
rs567992352
|
|
NM_000642.3(AGL):c.3477G>C (p.Gln1159His)
|
rs1570482572
|
|
NM_000642.3(AGL):c.3479G>A (p.Cys1160Tyr)
|
|
|
NM_000642.3(AGL):c.3486G>C (p.Gln1162His)
|
|
|
NM_000642.3(AGL):c.3488A>G (p.Asp1163Gly)
|
rs2100818432
|
|
NM_000642.3(AGL):c.3493T>A (p.Cys1165Ser)
|
rs1570482637
|
|
NM_000642.3(AGL):c.3508A>T (p.Asn1170Tyr)
|
rs1236655933
|
|
NM_000642.3(AGL):c.3531C>G (p.Cys1177Trp)
|
rs1653766997
|
|
NM_000642.3(AGL):c.3535G>T (p.Val1179Phe)
|
rs1553190315
|
|
NM_000642.3(AGL):c.3546G>A (p.Met1182Ile)
|
rs758562610
|
|
NM_000642.3(AGL):c.3550C>A (p.Pro1184Thr)
|
|
|
NM_000642.3(AGL):c.3557A>G (p.Asp1186Gly)
|
|
|
NM_000642.3(AGL):c.3560A>G (p.Asp1187Gly)
|
rs2100818758
|
|
NM_000642.3(AGL):c.3565G>T (p.Ala1189Ser)
|
|
|
NM_000642.3(AGL):c.3569C>G (p.Pro1190Arg)
|
rs1329252752
|
|
NM_000642.3(AGL):c.3577G>A (p.Ala1193Thr)
|
rs2100818799
|
|
NM_000642.3(AGL):c.3578C>T (p.Ala1193Val)
|
|
|
NM_000642.3(AGL):c.3581G>A (p.Gly1194Asp)
|
rs370685884
|
|
NM_000642.3(AGL):c.3584C>T (p.Thr1195Ile)
|
rs148930543
|
|
NM_000642.3(AGL):c.3588+6G>A
|
rs878931687
|
|
NM_000642.3(AGL):c.3589-14T>G
|
rs886044920
|
|
NM_000642.3(AGL):c.3593A>G (p.Gln1198Arg)
|
|
|
NM_000642.3(AGL):c.359A>G (p.His120Arg)
|
|
|
NM_000642.3(AGL):c.3610A>G (p.Ile1204Val)
|
|
|
NM_000642.3(AGL):c.3613C>G (p.Gln1205Glu)
|
rs775498547
|
|
NM_000642.3(AGL):c.3622A>G (p.Met1208Val)
|
|
|
NM_000642.3(AGL):c.3626A>G (p.Gln1209Arg)
|
rs1244477744
|
|
NM_000642.3(AGL):c.3634A>G (p.Met1212Val)
|
rs1653939546
|
|
NM_000642.3(AGL):c.3634A>T (p.Met1212Leu)
|
rs1653939546
|
|
NM_000642.3(AGL):c.3636G>A (p.Met1212Ile)
|
rs1570487362
|
|
NM_000642.3(AGL):c.3639G>C (p.Gln1213His)
|
rs1213904866
|
|
NM_000642.3(AGL):c.3640G>A (p.Gly1214Ser)
|
|
|
NM_000642.3(AGL):c.3652C>G (p.Arg1218Gly)
|
rs771853367
|
|
NM_000642.3(AGL):c.365T>C (p.Leu122Pro)
|
rs1557747438
|
|
NM_000642.3(AGL):c.3670C>T (p.Pro1224Ser)
|
rs1417784168
|
|
NM_000642.3(AGL):c.3677T>A (p.Ile1226Lys)
|
|
|
NM_000642.3(AGL):c.3677T>G (p.Ile1226Arg)
|
rs749118487
|
|
NM_000642.3(AGL):c.3679G>C (p.Asp1227His)
|
|
|
NM_000642.3(AGL):c.3688A>G (p.Met1230Val)
|
|
|
NM_000642.3(AGL):c.3689T>A (p.Met1230Lys)
|
|
|
NM_000642.3(AGL):c.368C>T (p.Pro123Leu)
|
rs138607658
|
|
NM_000642.3(AGL):c.3700+6G>A
|
rs1653947633
|
|
NM_000642.3(AGL):c.3706A>C (p.Asn1236His)
|
|
|
NM_000642.3(AGL):c.3727G>A (p.Glu1243Lys)
|
|
|
NM_000642.3(AGL):c.372G>A (p.Leu124=)
|
rs1650116520
|
|
NM_000642.3(AGL):c.3730G>A (p.Glu1244Lys)
|
|
|
NM_000642.3(AGL):c.3754A>G (p.Asn1252Asp)
|
|
|
NM_000642.3(AGL):c.3755A>G (p.Asn1252Ser)
|
rs1654691063
|
|
NM_000642.3(AGL):c.3757C>T (p.Arg1253Cys)
|
|
|
NM_000642.3(AGL):c.3767G>T (p.Cys1256Phe)
|
|
|
NM_000642.3(AGL):c.3778A>T (p.Met1260Leu)
|
rs2100849258
|
|
NM_000642.3(AGL):c.3781G>A (p.Asp1261Asn)
|
rs2100849278
|
|
NM_000642.3(AGL):c.3789G>T (p.Met1263Ile)
|
rs1654694671
|
|
NM_000642.3(AGL):c.3790G>A (p.Gly1264Arg)
|
|
|
NM_000642.3(AGL):c.3796A>G (p.Ser1266Gly)
|
|
|
NM_000642.3(AGL):c.3802A>G (p.Arg1268Gly)
|
rs1654696617
|
|
NM_000642.3(AGL):c.3805G>A (p.Ala1269Thr)
|
|
|
NM_000642.3(AGL):c.3818G>T (p.Gly1273Val)
|
rs765807203
|
|
NM_000642.3(AGL):c.3833C>T (p.Pro1278Leu)
|
|
|
NM_000642.3(AGL):c.3836+1_3836+2dup
|
rs1553192407
|
|
NM_000642.3(AGL):c.3837-19A>G
|
|
|
NM_000642.3(AGL):c.3837A>G (p.Arg1279=)
|
|
|
NM_000642.3(AGL):c.3838G>T (p.Asp1280Tyr)
|
|
|
NM_000642.3(AGL):c.3845C>G (p.Ser1282Cys)
|
rs1654811795
|
|
NM_000642.3(AGL):c.385C>G (p.Leu129Val)
|
rs749109793
|
|
NM_000642.3(AGL):c.385C>T (p.Leu129Phe)
|
rs749109793
|
|
NM_000642.3(AGL):c.3863G>C (p.Gly1288Ala)
|
rs1333279828
|
|
NM_000642.3(AGL):c.3869G>A (p.Ser1290Asn)
|
|
|
NM_000642.3(AGL):c.3883C>G (p.Arg1295Gly)
|
rs1238498134
|
|
NM_000642.3(AGL):c.3884G>T (p.Arg1295Leu)
|
rs140481863
|
|
NM_000642.3(AGL):c.3897A>C (p.Glu1299Asp)
|
rs2100854534
|
|
NM_000642.3(AGL):c.3912T>A (p.Asn1304Lys)
|
rs1570508523
|
|
NM_000642.3(AGL):c.3925_3927del (p.His1309del)
|
|
|
NM_000642.3(AGL):c.3927T>A (p.His1309Gln)
|
rs1200885928
|
|
NM_000642.3(AGL):c.3938T>G (p.Val1313Gly)
|
rs1557789904
|
|
NM_000642.3(AGL):c.3948T>C (p.His1316=)
|
|
|
NM_000642.3(AGL):c.3955G>C (p.Ala1319Pro)
|
|
|
NM_000642.3(AGL):c.3956C>G (p.Ala1319Gly)
|
rs756393699
|
|
NM_000642.3(AGL):c.3958A>G (p.Ile1320Val)
|
|
|
NM_000642.3(AGL):c.3963G>C (p.Lys1321Asn)
|
rs1198045021
|
|
NM_000642.3(AGL):c.3964G>C (p.Val1322Leu)
|
|
|
NM_000642.3(AGL):c.3990A>C (p.Lys1330Asn)
|
rs1654904369
|
|
NM_000642.3(AGL):c.3994C>A (p.Gln1332Lys)
|
|
|
NM_000642.3(AGL):c.3995A>C (p.Gln1332Pro)
|
|
|
NM_000642.3(AGL):c.4001A>C (p.Asn1334Thr)
|
|
|
NM_000642.3(AGL):c.401C>G (p.Ala134Gly)
|
|
|
NM_000642.3(AGL):c.4037C>T (p.Ser1346Leu)
|
rs1553192908
|
|
NM_000642.3(AGL):c.4040A>G (p.Asp1347Gly)
|
rs757161555
|
|
NM_000642.3(AGL):c.405G>C (p.Lys135Asn)
|
|
|
NM_000642.3(AGL):c.4064T>A (p.Leu1355Gln)
|
rs2100859879
|
|
NM_000642.3(AGL):c.4075C>T (p.Arg1359Cys)
|
|
|
NM_000642.3(AGL):c.4081A>C (p.Ile1361Leu)
|
rs1397039239
|
|
NM_000642.3(AGL):c.4083A>G (p.Ile1361Met)
|
rs897156043
|
|
NM_000642.3(AGL):c.4093A>G (p.Ser1365Gly)
|
|
|
NM_000642.3(AGL):c.4105T>C (p.Ser1369Pro)
|
rs2100860247
|
|
NM_000642.3(AGL):c.4108A>G (p.Ser1370Gly)
|
rs1483370301
|
|
NM_000642.3(AGL):c.4118G>C (p.Cys1373Ser)
|
|
|
NM_000642.3(AGL):c.4120G>C (p.Asp1374His)
|
rs1553192955
|
|
NM_000642.3(AGL):c.4153A>G (p.Met1385Val)
|
|
|
NM_000642.3(AGL):c.4166C>G (p.Pro1389Arg)
|
rs2100868485
|
|
NM_000642.3(AGL):c.4169A>T (p.Glu1390Val)
|
|
|
NM_000642.3(AGL):c.4170G>C (p.Glu1390Asp)
|
rs1570514873
|
|
NM_000642.3(AGL):c.4177A>G (p.Thr1393Ala)
|
rs781588707
|
|
NM_000642.3(AGL):c.4181C>T (p.Thr1394Ile)
|
|
|
NM_000642.3(AGL):c.4183G>C (p.Glu1395Gln)
|
rs780593883
|
|
NM_000642.3(AGL):c.4189G>A (p.Ala1397Thr)
|
rs375755924
|
|
NM_000642.3(AGL):c.4198G>T (p.Ala1400Ser)
|
|
|
NM_000642.3(AGL):c.4207A>T (p.Ile1403Phe)
|
rs772976797
|
|
NM_000642.3(AGL):c.4209T>G (p.Ile1403Met)
|
rs1553193234
|
|
NM_000642.3(AGL):c.420TGA[1] (p.Asp141del)
|
rs1300198233
|
|
NM_000642.3(AGL):c.4213G>A (p.Glu1405Lys)
|
|
|
NM_000642.3(AGL):c.4225C>G (p.Leu1409Val)
|
rs758570060
|
|
NM_000642.3(AGL):c.4225C>T (p.Leu1409Phe)
|
rs758570060
|
|
NM_000642.3(AGL):c.4231C>T (p.Pro1411Ser)
|
rs1557792779
|
|
NM_000642.3(AGL):c.4232C>T (p.Pro1411Leu)
|
rs1655046172
|
|
NM_000642.3(AGL):c.4250T>C (p.Leu1417Ser)
|
|
|
NM_000642.3(AGL):c.4253A>C (p.Asp1418Ala)
|
|
|
NM_000642.3(AGL):c.4255C>A (p.Pro1419Thr)
|
|
|
NM_000642.3(AGL):c.4256del (p.Pro1419fs)
|
rs1557792839
|
|
NM_000642.3(AGL):c.4259+3A>T
|
rs1655048891
|
|
NM_000642.3(AGL):c.4259+5G>A
|
rs780504025
|
|
NM_000642.3(AGL):c.4260-7T>A
|
|
|
NM_000642.3(AGL):c.4261G>A (p.Asp1421Asn)
|
rs750525703
|
|
NM_000642.3(AGL):c.4265T>C (p.Met1422Thr)
|
|
|
NM_000642.3(AGL):c.4268T>C (p.Val1423Ala)
|
|
|
NM_000642.3(AGL):c.4270T>C (p.Tyr1424His)
|
|
|
NM_000642.3(AGL):c.4282T>C (p.Tyr1428His)
|
|
|
NM_000642.3(AGL):c.4297G>A (p.Asp1433Asn)
|
|
|
NM_000642.3(AGL):c.4310A>G (p.Tyr1437Cys)
|
rs902469758
|
|
NM_000642.3(AGL):c.4325G>A (p.Gly1442Asp)
|
rs1281131845
|
|
NM_000642.3(AGL):c.4327T>C (p.Phe1443Leu)
|
|
|
NM_000642.3(AGL):c.4327T>G (p.Phe1443Val)
|
rs760127227
|
|
NM_000642.3(AGL):c.4330A>T (p.Asn1444Tyr)
|
|
|
NM_000642.3(AGL):c.4331A>T (p.Asn1444Ile)
|
rs143815159
|
|
NM_000642.3(AGL):c.4336C>T (p.His1446Tyr)
|
rs1655124280
|
|
NM_000642.3(AGL):c.4337A>G (p.His1446Arg)
|
rs1655124520
|
|
NM_000642.3(AGL):c.4347+6A>C
|
|
|
NM_000642.3(AGL):c.4347T>A (p.Pro1449=)
|
|
|
NM_000642.3(AGL):c.4348-3dup
|
rs886044921
|
|
NM_000642.3(AGL):c.4366G>A (p.Gly1456Arg)
|
|
|
NM_000642.3(AGL):c.4378C>T (p.Arg1460Cys)
|
|
|
NM_000642.3(AGL):c.437G>T (p.Arg146Ile)
|
|
|
NM_000642.3(AGL):c.4386A>G (p.Lys1462=)
|
|
|
NM_000642.3(AGL):c.4404G>C (p.Leu1468Phe)
|
rs2100876196
|
|
NM_000642.3(AGL):c.4405A>G (p.Met1469Val)
|
rs747171944
|
|
NM_000642.3(AGL):c.4418C>A (p.Thr1473Asn)
|
|
|
NM_000642.3(AGL):c.442A>G (p.Arg148Gly)
|
rs574307189
|
|
NM_000642.3(AGL):c.4436T>A (p.Val1479Asp)
|
|
|
NM_000642.3(AGL):c.443G>A (p.Arg148Lys)
|
rs542885983
|
|
NM_000642.3(AGL):c.4441G>T (p.Val1481Phe)
|
|
|
NM_000642.3(AGL):c.4448A>G (p.Asn1483Ser)
|
|
|
NM_000642.3(AGL):c.4450G>T (p.Val1484Phe)
|
rs75076115
|
|
NM_000642.3(AGL):c.4454T>C (p.Leu1485Pro)
|
|
|
NM_000642.3(AGL):c.4460G>A (p.Arg1487Gln)
|
|
|
NM_000642.3(AGL):c.4465_4467del (p.Tyr1489del)
|
rs1553193523
|
|
NM_000642.3(AGL):c.4481+3A>T
|
rs953882029
|
|
NM_000642.3(AGL):c.4481+5G>A
|
|
|
NM_000642.3(AGL):c.4486C>T (p.Pro1496Ser)
|
|
|
NM_000642.3(AGL):c.4492A>G (p.Lys1498Glu)
|
rs1655510736
|
|
NM_000642.3(AGL):c.4514A>G (p.Asn1505Ser)
|
|
|
NM_000642.3(AGL):c.4520A>G (p.Asn1507Ser)
|
|
|
NM_000642.3(AGL):c.4524_4525delinsAA (p.Gln1509Lys)
|
|
|
NM_000642.3(AGL):c.4532G>T (p.Cys1511Phe)
|
|
|
NM_000642.3(AGL):c.4542C>G (p.Ser1514Arg)
|
rs367764339
|
|
NM_000642.3(AGL):c.4559G>A (p.Trp1520Ter)
|
rs2100902013
|
|
NM_000642.3(AGL):c.4561T>C (p.Ser1521Pro)
|
rs1406341617
|
|
NM_000642.3(AGL):c.4570A>G (p.Thr1524Ala)
|
rs995580660
|
|
NM_000642.3(AGL):c.4576C>T (p.Leu1526Phe)
|
|
|
NM_000642.3(AGL):c.4578_4579insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGCGGGGGGCTGCTCCGTGCCCTCGGGCCCCGCGGGGCCCGTCCGCTCCTCCAGCCGCTGCCTCCCGGGCGGCCAATTGCTACTATTCTT (p.Leu1526_Glu1527insPhePhePhePhePhePheXaaXaaXaaXaaGlyGlyGlyLeuLeuArgAlaLeuGlyProArgGlyAlaArgProLeuLeuGlnProLeuProProGlyArgProIleAlaThrIleLeu)
|
|
|
NM_000642.3(AGL):c.4586T>G (p.Leu1529Arg)
|
|
|
NM_000642.3(AGL):c.461G>C (p.Gly154Ala)
|
rs199622995
|
|
NM_000642.3(AGL):c.476A>G (p.His159Arg)
|
rs2101093703
|
|
NM_000642.3(AGL):c.4G>A (p.Gly2Arg)
|
rs1218915839
|
|
NM_000642.3(AGL):c.50A>G (p.Lys17Arg)
|
|
|
NM_000642.3(AGL):c.514T>G (p.Cys172Gly)
|
rs2101093781
|
|
NM_000642.3(AGL):c.518_520dup (p.Tyr173_Ser174insTyr)
|
|
|
NM_000642.3(AGL):c.545A>C (p.Asn182Thr)
|
rs2101093877
|
|
NM_000642.3(AGL):c.545A>G (p.Asn182Ser)
|
rs2101093877
|
|
NM_000642.3(AGL):c.556T>G (p.Ser186Ala)
|
|
|
NM_000642.3(AGL):c.566A>G (p.Asn189Ser)
|
rs1571232301
|
|
NM_000642.3(AGL):c.573G>C (p.Lys191Asn)
|
rs781491884
|
|
NM_000642.3(AGL):c.594A>T (p.Gly198=)
|
rs2101094061
|
|
NM_000642.3(AGL):c.605A>T (p.Glu202Val)
|
|
|
NM_000642.3(AGL):c.60G>C (p.Lys20Asn)
|
rs769238334
|
|
NM_000642.3(AGL):c.623_624delinsAT (p.Trp208Tyr)
|
rs2101094202
|
|
NM_000642.3(AGL):c.634_636del (p.Cys212del)
|
|
|
NM_000642.3(AGL):c.64C>G (p.Leu22Val)
|
rs762204351
|
|
NM_000642.3(AGL):c.64C>T (p.Leu22Phe)
|
rs762204351
|
|
NM_000642.3(AGL):c.655A>G (p.Asn219Asp)
|
|
|
NM_000642.3(AGL):c.662C>T (p.Thr221Ile)
|
rs1415593167
|
|
NM_000642.3(AGL):c.673A>G (p.Ser225Gly)
|
|
|
NM_000642.3(AGL):c.677A>G (p.Lys226Arg)
|
rs2101112006
|
|
NM_000642.3(AGL):c.68T>A (p.Phe23Tyr)
|
rs1342547734
|
|
NM_000642.3(AGL):c.703G>A (p.Ala235Thr)
|
rs1571242911
|
|
NM_000642.3(AGL):c.71G>C (p.Arg24Thr)
|
rs772905291
|
|
NM_000642.3(AGL):c.71G>T (p.Arg24Ile)
|
rs772905291
|
|
NM_000642.3(AGL):c.722C>A (p.Ser241Tyr)
|
rs2101112172
|
|
NM_000642.3(AGL):c.724C>T (p.Pro242Ser)
|
rs530123638
|
|
NM_000642.3(AGL):c.736C>T (p.Pro246Ser)
|
rs370391954
|
|
NM_000642.3(AGL):c.742T>C (p.Trp248Arg)
|
rs2101112237
|
|
NM_000642.3(AGL):c.757G>C (p.Ala253Pro)
|
rs745379427
|
|
NM_000642.3(AGL):c.757G>T (p.Ala253Ser)
|
rs745379427
|
|
NM_000642.3(AGL):c.758C>G (p.Ala253Gly)
|
|
|
NM_000642.3(AGL):c.763T>C (p.Trp255Arg)
|
|
|
NM_000642.3(AGL):c.76G>C (p.Glu26Gln)
|
|
|
NM_000642.3(AGL):c.771C>G (p.Phe257Leu)
|
|
|
NM_000642.3(AGL):c.772T>C (p.Ser258Pro)
|
rs886039873
|
|
NM_000642.3(AGL):c.782T>C (p.Val261Ala)
|
|
|
NM_000642.3(AGL):c.782T>G (p.Val261Gly)
|
rs1571243125
|
|
NM_000642.3(AGL):c.795A>C (p.Lys265Asn)
|
rs1441216143
|
|
NM_000642.3(AGL):c.801A>C (p.Lys267Asn)
|
|
|
NM_000642.3(AGL):c.805A>G (p.Lys269Glu)
|
rs1650900393
|
|
NM_000642.3(AGL):c.811A>G (p.Ile271Val)
|
rs2101112504
|
|
NM_000642.3(AGL):c.82+6T>C
|
rs1648918421
|
|
NM_000642.3(AGL):c.833A>G (p.Asp278Gly)
|
|
|
NM_000642.3(AGL):c.837C>A (p.His279Gln)
|
rs1242665410
|
|
NM_000642.3(AGL):c.847-3C>A
|
rs1571243667
|
|
NM_000642.3(AGL):c.874A>C (p.Ile292Leu)
|
rs1272589048
|
|
NM_000642.3(AGL):c.880C>G (p.Pro294Ala)
|
rs886044917
|
|
NM_000642.3(AGL):c.887T>G (p.Leu296Arg)
|
rs748142986
|
|
NM_000642.3(AGL):c.889A>G (p.Lys297Glu)
|
rs2101113398
|
|
NM_000642.3(AGL):c.893T>C (p.Leu298Pro)
|
|
|
NM_000642.3(AGL):c.894_895delinsTA (p.Trp299Arg)
|
|
|
NM_000642.3(AGL):c.894_895delinsTC (p.Trp299Arg)
|
rs2101113438
|
|
NM_000642.3(AGL):c.894_895delinsTG (p.Trp299Gly)
|
|
|
NM_000642.3(AGL):c.895T>G (p.Trp299Gly)
|
rs773101055
|
|
NM_000642.3(AGL):c.899A>G (p.Glu300Gly)
|
|
|
NM_000642.3(AGL):c.89A>G (p.Glu30Gly)
|
|
|
NM_000642.3(AGL):c.909A>G (p.Gln303=)
|
rs2101113480
|
|
NM_000642.3(AGL):c.916G>A (p.Val306Ile)
|
rs764208593
|
|
NM_000642.3(AGL):c.919A>T (p.Asn307Tyr)
|
rs774810929
|
|
NM_000642.3(AGL):c.921C>A (p.Asn307Lys)
|
rs1294297593
|
|
NM_000642.3(AGL):c.922A>G (p.Lys308Glu)
|
rs2101113540
|
|
NM_000642.3(AGL):c.923A>G (p.Lys308Arg)
|
|
|
NM_000642.3(AGL):c.929T>C (p.Val310Ala)
|
rs2101113568
|
|
NM_000642.3(AGL):c.940A>G (p.Arg314Gly)
|
rs756443678
|
|
NM_000642.3(AGL):c.941G>A (p.Arg314Lys)
|
rs2101113628
|
|
NM_000642.3(AGL):c.949C>T (p.Leu317Phe)
|
rs1557754822
|
|
NM_000642.3(AGL):c.959-72_965dup
|
rs1553185268
|
|
NM_000642.3(AGL):c.965G>A (p.Arg322Lys)
|
|
|
NM_000642.3(AGL):c.974C>G (p.Thr325Ser)
|
rs2101126080
|
|
NM_000642.3(AGL):c.978G>C (p.Lys326Asn)
|
|
|
NM_000642.3(AGL):c.980C>G (p.Ser327Cys)
|
|
|
NM_000642.3(AGL):c.994C>T (p.His332Tyr)
|
|
|
NM_000642.3(AGL):c.995A>G (p.His332Arg)
|
rs2101126148
|
|
NM_000891.3(KCNJ2):c.*1226C>G
|
rs749246339
|
|
NM_000891.3(KCNJ2):c.*1345G>A
|
rs141156477
|
|
NM_000891.3(KCNJ2):c.*1449C>T
|
rs2074403807
|
|
NM_000891.3(KCNJ2):c.*1631C>G
|
rs886053333
|
|
NM_000891.3(KCNJ2):c.*1646T>C
|
rs2074404964
|
|
NM_000891.3(KCNJ2):c.*1702_*1704dup
|
rs1555604193
|
|
NM_000891.3(KCNJ2):c.*1702dup
|
rs886053334
|
|
NM_000891.3(KCNJ2):c.*1719_*1721dup
|
rs35753731
|
|
NM_000891.3(KCNJ2):c.*1720_*1721dup
|
rs35753731
|
|
NM_000891.3(KCNJ2):c.*1721dup
|
rs35753731
|
|
NM_000891.3(KCNJ2):c.*2270G>T
|
rs545863243
|
|
NM_000891.3(KCNJ2):c.*2328T>G
|
rs1233305858
|
|
NM_000891.3(KCNJ2):c.*2339G>C
|
rs1273347996
|
|
NM_000891.3(KCNJ2):c.*2343C>T
|
rs536283660
|
|
NM_000891.3(KCNJ2):c.*2370C>T
|
rs2074409675
|
|
NM_000891.3(KCNJ2):c.*2526A>G
|
rs886053337
|
|
NM_000891.3(KCNJ2):c.*2663T>C
|
rs886053338
|
|
NM_000891.3(KCNJ2):c.*2748T>C
|
rs9915768
|
|
NM_000891.3(KCNJ2):c.*2770_*2775del
|
rs35656864
|
|
NM_000891.3(KCNJ2):c.*2771_*2775del
|
rs35656864
|
|
NM_000891.3(KCNJ2):c.*2772_*2775del
|
rs35656864
|
|
NM_000891.3(KCNJ2):c.*2774_*2775del
|
rs35656864
|
|
NM_000891.3(KCNJ2):c.*2775dup
|
rs35656864
|
|
NM_000891.3(KCNJ2):c.*2776del
|
rs886053343
|
|
NM_000891.3(KCNJ2):c.*308C>T
|
rs2074395230
|
|
NM_000891.3(KCNJ2):c.*3173C>A
|
rs1467380962
|
|
NM_000891.3(KCNJ2):c.*324del
|
rs570173316
|
|
NM_000891.3(KCNJ2):c.*3391_*3392dup
|
rs552636156
|
|
NM_000891.3(KCNJ2):c.*3463del
|
rs3841509
|
|
NM_000891.3(KCNJ2):c.*596T>A
|
rs886053328
|
|
NM_000891.3(KCNJ2):c.-162delinsTCAGAGTAGT
|
rs376713253
|
|
NM_000891.3(KCNJ2):c.-258C>T
|
rs886053321
|
|
NM_000891.3(KCNJ2):c.1007A>G (p.Tyr336Cys)
|
|
|
NM_000891.3(KCNJ2):c.1010A>G (p.Tyr337Cys)
|
|
|
NM_000891.3(KCNJ2):c.1015G>C (p.Val339Leu)
|
|
|
NM_000891.3(KCNJ2):c.101A>G (p.Lys34Arg)
|
rs772815957
|
|
NM_000891.3(KCNJ2):c.102G>T (p.Lys34Asn)
|
rs1476737505
|
|
NM_000891.3(KCNJ2):c.1043A>G (p.Tyr348Cys)
|
rs2144377812
|
|
NM_000891.3(KCNJ2):c.1063C>T (p.Leu355Phe)
|
rs1411366891
|
|
NM_000891.3(KCNJ2):c.1067G>T (p.Cys356Phe)
|
rs368406938
|
|
NM_000891.3(KCNJ2):c.106A>G (p.Lys36Glu)
|
|
|
NM_000891.3(KCNJ2):c.1085C>A (p.Ala362Glu)
|
|
|
NM_000891.3(KCNJ2):c.1088A>T (p.Glu363Val)
|
rs2074391294
|
|
NM_000891.3(KCNJ2):c.1091A>G (p.Lys364Arg)
|
rs1060500054
|
|
NM_000891.3(KCNJ2):c.1096T>A (p.Tyr366Asn)
|
rs2144377919
|
|
NM_000891.3(KCNJ2):c.1103T>A (p.Leu368His)
|
rs2144377937
|
|
NM_000891.3(KCNJ2):c.1109A>G (p.Asn370Ser)
|
rs2144377959
|
|
NM_000891.3(KCNJ2):c.1112C>A (p.Ala371Glu)
|
rs780233256
|
|
NM_000891.3(KCNJ2):c.1116T>G (p.Asn372Lys)
|
rs2144377969
|
|
NM_000891.3(KCNJ2):c.1148C>G (p.Thr383Arg)
|
|
|
NM_000891.3(KCNJ2):c.1151G>A (p.Ser384Asn)
|
|
|
NM_000891.3(KCNJ2):c.1169G>T (p.Ser390Ile)
|
|
|
NM_000891.3(KCNJ2):c.1181T>C (p.Val394Ala)
|
|
|
NM_000891.3(KCNJ2):c.1190G>A (p.Ser397Asn)
|
rs1567823283
|
|
NM_000891.3(KCNJ2):c.1193C>A (p.Thr398Asn)
|
|
|
NM_000891.3(KCNJ2):c.1196G>A (p.Ser399Asn)
|
rs1598211624
|
|
NM_000891.3(KCNJ2):c.1196G>C (p.Ser399Thr)
|
rs1598211624
|
|
NM_000891.3(KCNJ2):c.1198A>G (p.Thr400Ala)
|
|
|
NM_000891.3(KCNJ2):c.119G>C (p.Arg40Pro)
|
rs766143485
|
|
NM_000891.3(KCNJ2):c.119G>T (p.Arg40Leu)
|
|
|
NM_000891.3(KCNJ2):c.1202A>G (p.Asp401Gly)
|
|
|
NM_000891.3(KCNJ2):c.1212del (p.Asp405fs)
|
rs2074392185
|
|
NM_000891.3(KCNJ2):c.1215C>A (p.Asp405Glu)
|
rs863224374
|
|
NM_000891.3(KCNJ2):c.1222C>T (p.Leu408Phe)
|
rs753757610
|
|
NM_000891.3(KCNJ2):c.1235C>T (p.Ala412Val)
|
|
|
NM_000891.3(KCNJ2):c.1237A>T (p.Ser413Cys)
|
rs910587867
|
|
NM_000891.3(KCNJ2):c.1238G>T (p.Ser413Ile)
|
rs779960704
|
|
NM_000891.3(KCNJ2):c.1244C>A (p.Pro415His)
|
|
|
NM_000891.3(KCNJ2):c.1264C>T (p.Arg422Trp)
|
rs1478741381
|
|
NM_000891.3(KCNJ2):c.1265G>A (p.Arg422Gln)
|
|
|
NM_000891.3(KCNJ2):c.1265G>T (p.Arg422Leu)
|
rs199473390
|
|
NM_000891.3(KCNJ2):c.1284A>G (p.Ter428Trp)
|
|
|
NM_000891.3(KCNJ2):c.131G>A (p.Arg44Lys)
|
rs2144376473
|
|
NM_000891.3(KCNJ2):c.136C>G (p.Arg46Gly)
|
rs2074385043
|
|
NM_000891.3(KCNJ2):c.136C>T (p.Arg46Cys)
|
rs2074385043
|
|
NM_000891.3(KCNJ2):c.13C>G (p.Arg5Gly)
|
|
|
NM_000891.3(KCNJ2):c.13C>T (p.Arg5Ter)
|
rs1042485
|
|
NM_000891.3(KCNJ2):c.142G>A (p.Val48Met)
|
|
|
NM_000891.3(KCNJ2):c.149A>G (p.Lys50Arg)
|
rs2144376499
|
|
NM_000891.3(KCNJ2):c.158A>G (p.His53Arg)
|
rs1598211051
|
|
NM_000891.3(KCNJ2):c.160T>G (p.Cys54Gly)
|
rs2144376507
|
|
NM_000891.3(KCNJ2):c.191A>G (p.Lys64Arg)
|
rs2144376559
|
|
NM_000891.3(KCNJ2):c.203A>G (p.Tyr68Cys)
|
rs2144376588
|
|
NM_000891.3(KCNJ2):c.205C>T (p.Leu69Phe)
|
|
|
NM_000891.3(KCNJ2):c.208G>A (p.Ala70Thr)
|
rs375605948
|
|
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His)
|
rs199473369
|
|
NM_000891.3(KCNJ2):c.214A>G (p.Ile72Val)
|
|
|
NM_000891.3(KCNJ2):c.224C>A (p.Thr75Lys)
|
|
|
NM_000891.3(KCNJ2):c.226T>G (p.Cys76Gly)
|
rs786205812
|
|
NM_000891.3(KCNJ2):c.232G>C (p.Asp78His)
|
rs199473372
|
|
NM_000891.3(KCNJ2):c.238C>T (p.Arg80Cys)
|
rs2074385891
|
|
NM_000891.3(KCNJ2):c.239G>A (p.Arg80His)
|
rs2144376668
|
|
NM_000891.3(KCNJ2):c.251T>C (p.Met84Thr)
|
|
|
NM_000891.3(KCNJ2):c.252G>A (p.Met84Ile)
|
|
|
NM_000891.3(KCNJ2):c.259A>G (p.Ile87Val)
|
rs748958117
|
|
NM_000891.3(KCNJ2):c.261C>G (p.Ile87Met)
|
|
|
NM_000891.3(KCNJ2):c.265T>C (p.Cys89Arg)
|
|
|
NM_000891.3(KCNJ2):c.271G>A (p.Ala91Thr)
|
rs2144376712
|
|
NM_000891.3(KCNJ2):c.272C>T (p.Ala91Val)
|
|
|
NM_000891.3(KCNJ2):c.290T>C (p.Leu97Pro)
|
rs2144376751
|
|
NM_000891.3(KCNJ2):c.291_293del (p.Phe99del)
|
rs2074386225
|
|
NM_000891.3(KCNJ2):c.299G>T (p.Gly100Val)
|
rs1598211153
|
|
NM_000891.3(KCNJ2):c.317T>C (p.Ile106Thr)
|
|
|
NM_000891.3(KCNJ2):c.31A>G (p.Ile11Val)
|
|
|
NM_000891.3(KCNJ2):c.326T>A (p.Leu109His)
|
|
|
NM_000891.3(KCNJ2):c.326T>C (p.Leu109Pro)
|
rs1567822991
|
|
NM_000891.3(KCNJ2):c.334G>T (p.Asp112Tyr)
|
|
|
NM_000891.3(KCNJ2):c.341A>G (p.Asp114Gly)
|
rs2074386589
|
|
NM_000891.3(KCNJ2):c.344C>T (p.Ala115Val)
|
rs886053323
|
|
NM_000891.3(KCNJ2):c.371C>G (p.Ser124Cys)
|
rs2144376873
|
|
NM_000891.3(KCNJ2):c.373G>A (p.Glu125Lys)
|
rs2074386756
|
|
NM_000891.3(KCNJ2):c.388A>G (p.Thr130Ala)
|
rs1555603936
|
|
NM_000891.3(KCNJ2):c.394G>A (p.Ala132Thr)
|
rs2074386902
|
|
NM_000891.3(KCNJ2):c.410T>A (p.Ile137Asn)
|
rs772055408
|
|
NM_000891.3(KCNJ2):c.410T>C (p.Ile137Thr)
|
|
|
NM_000891.3(KCNJ2):c.416C>T (p.Thr139Ile)
|
rs1060500052
|
|
NM_000891.3(KCNJ2):c.431G>T (p.Gly144Val)
|
|
|
NM_000891.3(KCNJ2):c.437G>A (p.Gly146Asp)
|
rs199473379
|
|
NM_000891.3(KCNJ2):c.452C>T (p.Thr151Met)
|
|
|
NM_000891.3(KCNJ2):c.459A>C (p.Glu153Asp)
|
|
|
NM_000891.3(KCNJ2):c.460T>G (p.Cys154Gly)
|
rs2144376982
|
|
NM_000891.3(KCNJ2):c.461G>A (p.Cys154Tyr)
|
rs199473380
|
|
NM_000891.3(KCNJ2):c.478A>G (p.Met160Val)
|
|
|
NM_000891.3(KCNJ2):c.481G>A (p.Val161Met)
|
rs2074387480
|
|
NM_000891.3(KCNJ2):c.499G>T (p.Val167Leu)
|
rs140147979
|
|
NM_000891.3(KCNJ2):c.4G>C (p.Gly2Arg)
|
|
|
NM_000891.3(KCNJ2):c.500_514dup (p.Val167_Ile171dup)
|
rs2144377032
|
|
NM_000891.3(KCNJ2):c.517G>T (p.Ala173Ser)
|
rs778699148
|
|
NM_000891.3(KCNJ2):c.523A>C (p.Ile175Leu)
|
rs761209037
|
|
NM_000891.3(KCNJ2):c.52G>A (p.Gly18Ser)
|
rs947488726
|
|
NM_000891.3(KCNJ2):c.52G>C (p.Gly18Arg)
|
|
|
NM_000891.3(KCNJ2):c.553A>G (p.Lys185Glu)
|
|
|
NM_000891.3(KCNJ2):c.566G>C (p.Arg189Thr)
|
rs199473381
|
|
NM_000891.3(KCNJ2):c.569A>T (p.Asn190Ile)
|
rs1598211282
|
|
NM_000891.3(KCNJ2):c.578T>A (p.Leu193His)
|
rs1555603955
|
|
NM_000891.3(KCNJ2):c.578T>G (p.Leu193Arg)
|
|
|
NM_000891.3(KCNJ2):c.580G>T (p.Val194Phe)
|
|
|
NM_000891.3(KCNJ2):c.586A>C (p.Ser196Arg)
|
|
|
NM_000891.3(KCNJ2):c.617G>A (p.Gly206Asp)
|
|
|
NM_000891.3(KCNJ2):c.633G>A (p.Met211Ile)
|
|
|
NM_000891.3(KCNJ2):c.636G>A (p.Trp212Ter)
|
rs2144377213
|
|
NM_000891.3(KCNJ2):c.638G>A (p.Arg213Gln)
|
|
|
NM_000891.3(KCNJ2):c.643G>T (p.Gly215Cys)
|
|
|
NM_000891.3(KCNJ2):c.647A>T (p.Asn216Ile)
|
rs2074388429
|
|
NM_000891.3(KCNJ2):c.653G>T (p.Arg218Leu)
|
rs199473384
|
|
NM_000891.3(KCNJ2):c.659G>A (p.Ser220Asn)
|
rs2074388522
|
|
NM_000891.3(KCNJ2):c.668T>G (p.Val223Gly)
|
rs1555603969
|
|
NM_000891.3(KCNJ2):c.683G>A (p.Arg228Gln)
|
rs1234083049
|
|
NM_000891.3(KCNJ2):c.706A>C (p.Ile236Leu)
|
|
|
NM_000891.3(KCNJ2):c.70A>G (p.Met24Val)
|
|
|
NM_000891.3(KCNJ2):c.721G>A (p.Glu241Lys)
|
|
|
NM_000891.3(KCNJ2):c.743T>C (p.Ile248Thr)
|
|
|
NM_000891.3(KCNJ2):c.744A>G (p.Ile248Met)
|
|
|
NM_000891.3(KCNJ2):c.763G>C (p.Asp255His)
|
|
|
NM_000891.3(KCNJ2):c.784T>G (p.Phe262Val)
|
rs2074389312
|
|
NM_000891.3(KCNJ2):c.794C>T (p.Ser265Phe)
|
rs1598211406
|
|
NM_000891.3(KCNJ2):c.839A>G (p.Tyr280Cys)
|
|
|
NM_000891.3(KCNJ2):c.877G>C (p.Glu293Gln)
|
rs2144377579
|
|
NM_000891.3(KCNJ2):c.884T>C (p.Val295Ala)
|
rs201162707
|
|
NM_000891.3(KCNJ2):c.89T>C (p.Phe30Ser)
|
|
|
NM_000891.3(KCNJ2):c.901A>C (p.Met301Leu)
|
rs786205818
|
|
NM_000891.3(KCNJ2):c.901A>G (p.Met301Val)
|
rs786205818
|
|
NM_000891.3(KCNJ2):c.922A>T (p.Thr308Ser)
|
rs2144377666
|
|
NM_000891.3(KCNJ2):c.923C>T (p.Thr308Met)
|
|
|
NM_000891.3(KCNJ2):c.929A>G (p.Gln310Arg)
|
rs1598211487
|
|
NM_000891.3(KCNJ2):c.954T>G (p.Asn318Lys)
|
|
|
NM_000891.3(KCNJ2):c.96C>G (p.Asn32Lys)
|
|
|
NM_000891.3(KCNJ2):c.979G>A (p.Glu327Lys)
|
|
|
NM_000891.3(KCNJ2):c.97G>C (p.Gly33Arg)
|
rs375727662
|
|
NM_000925.4(PDHB):c.*160A>G
|
rs2062883381
|
|
NM_000925.4(PDHB):c.*328A>G
|
rs2062880125
|
|
NM_000925.4(PDHB):c.*366_*367insAA
|
rs886058775
|
|
NM_000925.4(PDHB):c.1006A>G (p.Lys336Glu)
|
|
|
NM_000925.4(PDHB):c.1035G>C (p.Gln345His)
|
|
|
NM_000925.4(PDHB):c.1050A>G (p.Ile350Met)
|
|
|
NM_000925.4(PDHB):c.1057A>G (p.Ile353Val)
|
rs748366089
|
|
NM_000925.4(PDHB):c.121C>G (p.Gln41Glu)
|
|
|
NM_000925.4(PDHB):c.13T>C (p.Ser5Pro)
|
|
|
NM_000925.4(PDHB):c.14C>A (p.Ser5Tyr)
|
rs1053613186
|
|
NM_000925.4(PDHB):c.249T>C (p.Ile83=)
|
rs886058779
|
|
NM_000925.4(PDHB):c.25C>A (p.Arg9=)
|
rs747302644
|
|
NM_000925.4(PDHB):c.292G>A (p.Gly98Ser)
|
rs2062921405
|
|
NM_000925.4(PDHB):c.443A>G (p.Asn148Ser)
|
|
|
NM_000925.4(PDHB):c.449C>A (p.Ala150Asp)
|
|
|
NM_000925.4(PDHB):c.4G>A (p.Ala2Thr)
|
|
|
NM_000925.4(PDHB):c.520G>A (p.Val174Met)
|
|
|
NM_000925.4(PDHB):c.5C>T (p.Ala2Val)
|
|
|
NM_000925.4(PDHB):c.615G>A (p.Met205Ile)
|
|
|
NM_000925.4(PDHB):c.640C>T (p.Pro214Ser)
|
rs886058778
|
|
NM_000925.4(PDHB):c.660T>G (p.Asp220Glu)
|
|
|
NM_000925.4(PDHB):c.710T>A (p.Ile237Lys)
|
rs779577082
|
|
NM_000925.4(PDHB):c.721T>C (p.Ser241Pro)
|
|
|
NM_000925.4(PDHB):c.775G>A (p.Glu259Lys)
|
rs2062903901
|
|
NM_000925.4(PDHB):c.776A>G (p.Glu259Gly)
|
|
|
NM_000925.4(PDHB):c.781G>A (p.Val261Ile)
|
|
|
NM_000925.4(PDHB):c.792+3del
|
|
|
NM_000925.4(PDHB):c.793-19_793-14del
|
rs759146810
|
|
NM_000925.4(PDHB):c.806G>A (p.Arg269His)
|
|
|
NM_000925.4(PDHB):c.836T>C (p.Ile279Thr)
|
rs1392622459
|
|
NM_000925.4(PDHB):c.847G>A (p.Val283Ile)
|
rs2062893319
|
|
NM_000925.4(PDHB):c.93G>T (p.Leu31=)
|
rs886058780
|
|
NM_000925.4(PDHB):c.96+12G>A
|
rs773433623
|
|
NM_000925.4(PDHB):c.96+6A>T
|
|
|
NM_000925.4(PDHB):c.962C>T (p.Pro321Leu)
|
rs1576955015
|
|
NM_001001671.4(MAP3K15):c.3781-7G>C
|
rs2147195977
|
|
NM_001008216.2(GALE):c.*12T>G
|
rs1638931716
|
|
NM_001008216.2(GALE):c.*158G>A
|
rs1343467826
|
|
NM_001008216.2(GALE):c.*326_*328dup
|
rs557214506
|
|
NM_001008216.2(GALE):c.*327A>T
|
rs535702110
|
|
NM_001008216.2(GALE):c.-77+205C>G
|
rs910285433
|
|
NM_001008216.2(GALE):c.1003C>T (p.Arg335Cys)
|
|
|
NM_001008216.2(GALE):c.110A>G (p.Asn37Ser)
|
|
|
NM_001008216.2(GALE):c.13G>T (p.Val5Leu)
|
rs1570635677
|
|
NM_001008216.2(GALE):c.172C>T (p.Arg58Cys)
|
|
|
NM_001008216.2(GALE):c.224G>A (p.Arg75His)
|
|
|
NM_001008216.2(GALE):c.267G>A (p.Ala89=)
|
|
|
NM_001008216.2(GALE):c.286G>A (p.Glu96Lys)
|
|
|
NM_001008216.2(GALE):c.290C>T (p.Ser97Leu)
|
|
|
NM_001008216.2(GALE):c.308A>G (p.Asp103Gly)
|
rs28940883
|
|
NM_001008216.2(GALE):c.31G>T (p.Ala11Ser)
|
rs754850112
|
|
NM_001008216.2(GALE):c.330C>T (p.Thr110=)
|
rs377557637
|
|
NM_001008216.2(GALE):c.358A>G (p.Lys120Glu)
|
|
|
NM_001008216.2(GALE):c.409G>A (p.Gly137Arg)
|
rs372715385
|
|
NM_001008216.2(GALE):c.442C>A (p.His148Asn)
|
rs1006253988
|
|
NM_001008216.2(GALE):c.450G>A (p.Thr150=)
|
rs566884215
|
|
NM_001008216.2(GALE):c.472G>A (p.Gly158Ser)
|
|
|
NM_001008216.2(GALE):c.488T>G (p.Phe163Cys)
|
rs1570632874
|
|
NM_001008216.2(GALE):c.493G>C (p.Glu165Gln)
|
|
|
NM_001008216.2(GALE):c.529-11A>G
|
|
|
NM_001008216.2(GALE):c.529-22_535dup
|
|
|
NM_001008216.2(GALE):c.560A>G (p.Asn187Ser)
|
|
|
NM_001008216.2(GALE):c.689A>G (p.Tyr230Cys)
|
|
|
NM_001008216.2(GALE):c.699_700insTCAGAG (p.Glu233_Asp234insSerGlu)
|
|
|
NM_001008216.2(GALE):c.713T>C (p.Val238Ala)
|
rs1348284514
|
|
NM_001008216.2(GALE):c.80A>G (p.Tyr27Cys)
|
|
|
NM_001008216.2(GALE):c.873+6C>T
|
rs1553130228
|
|
NM_001008216.2(GALE):c.873G>A (p.Lys291=)
|
rs1570630092
|
|
NM_001008216.2(GALE):c.904G>T (p.Gly302Cys)
|
rs146052241
|
|
NM_001008216.2(GALE):c.988+5G>A
|
rs1035870470
|
|
NM_001008216.2(GALE):c.989-13C>T
|
rs199622680
|
|
NM_001008216.2(GALE):c.989G>A (p.Cys330Tyr)
|
rs768527360
|
|
NM_001014436.3(DBNL):c.*3913C>A
|
|
|
NM_001014436.3(DBNL):c.*4194G>A
|
rs2128796381
|
|
NM_001039770.3(TMPPE):c.-492C>T
|
rs1233290104
|
|
NM_001039770.3(TMPPE):c.-510T>G
|
rs886058344
|
|
NM_001040616.3(LINS1):c.1529T>C (p.Leu510Pro)
|
|
|
NM_001040616.3(LINS1):c.1815G>T (p.Met605Ile)
|
|
|
NM_001040616.3(LINS1):c.1826C>G (p.Ala609Gly)
|
rs1596871384
|
|
NM_001040616.3(LINS1):c.1909G>A (p.Val637Met)
|
rs376634257
|
|
NM_001040616.3(LINS1):c.2004G>C (p.Arg668Ser)
|
rs2037687560
|
|
NM_001040616.3(LINS1):c.2090T>G (p.Val697Gly)
|
|
|
NM_001040616.3(LINS1):c.2223GTT[1] (p.Leu743del)
|
|
|
NM_001040616.3(LINS1):c.305_306delinsAA (p.Arg102Gln)
|
rs2038477427
|
|
NM_001040616.3(LINS1):c.332A>C (p.His111Pro)
|
|
|
NM_001040616.3(LINS1):c.562A>G (p.Ile188Val)
|
|
|
NM_001040616.3(LINS1):c.786_842del (p.Arg263_Ser281del)
|
rs2038007278
|
|
NM_001040616.3(LINS1):c.997G>A (p.Asp333Asn)
|
rs2037993710
|
|
NM_001040716.2(PC):c.*101G>A
|
rs561169212
|
|
NM_001040716.2(PC):c.*164dup
|
rs762257488
|
|
NM_001040716.2(PC):c.*203T>C
|
rs886048553
|
|
NM_001040716.2(PC):c.*88G>A
|
rs1945295941
|
|
NM_001040716.2(PC):c.1-35661G>T
|
rs1555040359
|
|
NM_001040716.2(PC):c.1021G>A (p.Asp341Asn)
|
|
|
NM_001040716.2(PC):c.1021G>T (p.Asp341Tyr)
|
rs370810518
|
|
NM_001040716.2(PC):c.1023-14C>A
|
rs111858832
|
|
NM_001040716.2(PC):c.1023-14C>G
|
rs111858832
|
|
NM_001040716.2(PC):c.1023C>T (p.Asp341=)
|
|
|
NM_001040716.2(PC):c.1024G>A (p.Val342Ile)
|
|
|
NM_001040716.2(PC):c.1048C>G (p.His350Asp)
|
rs866715653
|
|
NM_001040716.2(PC):c.1052T>C (p.Val351Ala)
|
rs1261989853
|
|
NM_001040716.2(PC):c.1073C>G (p.Pro358Arg)
|
|
|
NM_001040716.2(PC):c.1093_1095del (p.Glu365del)
|
|
|
NM_001040716.2(PC):c.1103G>A (p.Arg368His)
|
|
|
NM_001040716.2(PC):c.110T>C (p.Ile37Thr)
|
|
|
NM_001040716.2(PC):c.111C>G (p.Ile37Met)
|
|
|
NM_001040716.2(PC):c.1177C>T (p.Arg393Cys)
|
|
|
NM_001040716.2(PC):c.1178G>A (p.Arg393His)
|
|
|
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr)
|
rs1057520687
|
|
NM_001040716.2(PC):c.1185+5_1185+8del
|
rs748620956
|
|
NM_001040716.2(PC):c.118G>C (p.Val40Leu)
|
rs2135943669
|
|
NM_001040716.2(PC):c.1192C>T (p.Arg398Trp)
|
|
|
NM_001040716.2(PC):c.1225_1227del (p.Asn409del)
|
rs1555023879
|
|
NM_001040716.2(PC):c.1295A>G (p.His432Arg)
|
|
|
NM_001040716.2(PC):c.1352G>A (p.Arg451His)
|
|
|
NM_001040716.2(PC):c.1358G>A (p.Arg453Gln)
|
|
|
NM_001040716.2(PC):c.1369-8T>A
|
|
|
NM_001040716.2(PC):c.1486C>T (p.Arg496Trp)
|
rs947957837
|
|
NM_001040716.2(PC):c.1487_1492del (p.Arg496_Ala497del)
|
|
|
NM_001040716.2(PC):c.1513+14C>T
|
rs1945613813
|
|
NM_001040716.2(PC):c.1513+6G>A
|
rs566545355
|
|
NM_001040716.2(PC):c.1544C>T (p.Pro515Leu)
|
|
|
NM_001040716.2(PC):c.1573A>G (p.Thr525Ala)
|
|
|
NM_001040716.2(PC):c.160C>T (p.Arg54Trp)
|
|
|
NM_001040716.2(PC):c.1646G>A (p.Gly549Glu)
|
rs886048556
|
|
NM_001040716.2(PC):c.1672C>T (p.Arg558Trp)
|
|
|
NM_001040716.2(PC):c.1682C>T (p.Pro561Leu)
|
|
|
NM_001040716.2(PC):c.1741C>T (p.Arg581Cys)
|
|
|
NM_001040716.2(PC):c.1742G>A (p.Arg581His)
|
|
|
NM_001040716.2(PC):c.1747C>T (p.Arg583Cys)
|
|
|
NM_001040716.2(PC):c.1804T>C (p.Phe602Leu)
|
rs2135813970
|
|
NM_001040716.2(PC):c.1825+1G>A
|
rs1565214970
|
|
NM_001040716.2(PC):c.1825+3A>C
|
rs1945555370
|
|
NM_001040716.2(PC):c.1843G>A (p.Ala615Thr)
|
rs773466708
|
|
NM_001040716.2(PC):c.1843G>T (p.Ala615Ser)
|
|
|
NM_001040716.2(PC):c.1876C>T (p.Arg626Trp)
|
rs1591122325
|
|
NM_001040716.2(PC):c.1877G>A (p.Arg626Gln)
|
rs780759271
|
|
NM_001040716.2(PC):c.1891C>T (p.Arg631Trp)
|
|
|
NM_001040716.2(PC):c.1937C>G (p.Ala646Gly)
|
rs1565213970
|
|
NM_001040716.2(PC):c.1940A>G (p.Asn647Ser)
|
|
|
NM_001040716.2(PC):c.196A>G (p.Ile66Val)
|
rs1409511654
|
|
NM_001040716.2(PC):c.1972G>A (p.Val658Met)
|
|
|
NM_001040716.2(PC):c.2000A>G (p.Lys667Arg)
|
|
|
NM_001040716.2(PC):c.2019C>A (p.Val673=)
|
rs1591119887
|
|
NM_001040716.2(PC):c.2026G>A (p.Val676Met)
|
|
|
NM_001040716.2(PC):c.203C>T (p.Ser68Phe)
|
|
|
NM_001040716.2(PC):c.2142C>G (p.Ser714Arg)
|
rs1945464815
|
|
NM_001040716.2(PC):c.2143C>T (p.Arg715Cys)
|
rs1945464671
|
|
NM_001040716.2(PC):c.215C>T (p.Thr72Met)
|
|
|
NM_001040716.2(PC):c.2164T>C (p.Tyr722His)
|
|
|
NM_001040716.2(PC):c.2170A>T (p.Met724Leu)
|
|
|
NM_001040716.2(PC):c.2192T>C (p.Val731Ala)
|
|
|
NM_001040716.2(PC):c.2209A>G (p.Ile737Val)
|
|
|
NM_001040716.2(PC):c.2223+4C>A
|
|
|
NM_001040716.2(PC):c.2224-31TC[8]
|
rs139065746
|
|
NM_001040716.2(PC):c.2227A>G (p.Met743Val)
|
rs1591118129
|
|
NM_001040716.2(PC):c.2281G>A (p.Asp761Asn)
|
rs1945442151
|
|
NM_001040716.2(PC):c.2285G>A (p.Arg762His)
|
|
|
NM_001040716.2(PC):c.2285G>C (p.Arg762Pro)
|
|
|
NM_001040716.2(PC):c.2292C>G (p.Pro764=)
|
rs757918962
|
|
NM_001040716.2(PC):c.229C>T (p.Arg77Trp)
|
rs928225163
|
|
NM_001040716.2(PC):c.2320G>A (p.Asp774Asn)
|
rs1453225876
|
|
NM_001040716.2(PC):c.2333C>T (p.Ala778Val)
|
rs1272540070
|
|
NM_001040716.2(PC):c.2338G>T (p.Val780Leu)
|
rs572440768
|
|
NM_001040716.2(PC):c.2342C>T (p.Ala781Val)
|
rs2135799932
|
|
NM_001040716.2(PC):c.2380G>C (p.Val794Leu)
|
|
|
NM_001040716.2(PC):c.2423C>A (p.Pro808His)
|
rs1591116883
|
|
NM_001040716.2(PC):c.2447G>A (p.Cys816Tyr)
|
rs1235315835
|
|
NM_001040716.2(PC):c.2482A>G (p.Met828Val)
|
|
|
NM_001040716.2(PC):c.2492T>C (p.Val831Ala)
|
|
|
NM_001040716.2(PC):c.2494T>A (p.Phe832Ile)
|
rs1945409904
|
|
NM_001040716.2(PC):c.2511_2531dup (p.Leu844_Tyr845insTrpGluGlyAlaArgGlyLeu)
|
|
|
NM_001040716.2(PC):c.2544C>G (p.Phe848Leu)
|
rs1270012365
|
|
NM_001040716.2(PC):c.2567C>G (p.Ser856Cys)
|
|
|
NM_001040716.2(PC):c.256A>G (p.Ile86Val)
|
rs1946744013
|
|
NM_001040716.2(PC):c.259G>A (p.Gly87Ser)
|
|
|
NM_001040716.2(PC):c.259G>C (p.Gly87Arg)
|
rs770055702
|
|
NM_001040716.2(PC):c.2605G>A (p.Gly869Ser)
|
|
|
NM_001040716.2(PC):c.2605_2610dup (p.Gly869_Gln870dup)
|
rs1555015012
|
|
NM_001040716.2(PC):c.2606G>A (p.Gly869Asp)
|
rs1555015018
|
|
NM_001040716.2(PC):c.2607C>T (p.Gly869=)
|
|
|
NM_001040716.2(PC):c.2623C>T (p.His875Tyr)
|
|
|
NM_001040716.2(PC):c.2638A>G (p.Ser880Gly)
|
|
|
NM_001040716.2(PC):c.2667G>C (p.Glu889Asp)
|
rs1006994126
|
|
NM_001040716.2(PC):c.2705G>A (p.Gly902Asp)
|
rs886048555
|
|
NM_001040716.2(PC):c.2711TCA[1] (p.Ile905del)
|
rs1555014903
|
|
NM_001040716.2(PC):c.2719-5_2719-3del
|
rs566558597
|
|
NM_001040716.2(PC):c.2723C>T (p.Thr908Met)
|
rs796052032
|
|
NM_001040716.2(PC):c.2755C>A (p.Gln919Lys)
|
|
|
NM_001040716.2(PC):c.2782C>T (p.Arg928Trp)
|
|
|
NM_001040716.2(PC):c.2852A>G (p.Tyr951Cys)
|
rs2135791974
|
|
NM_001040716.2(PC):c.2902C>G (p.Leu968Val)
|
|
|
NM_001040716.2(PC):c.2974_2976del (p.Lys992del)
|
rs751225998
|
|
NM_001040716.2(PC):c.2976G>C (p.Lys992Asn)
|
rs368895283
|
|
NM_001040716.2(PC):c.2989C>T (p.Arg997Trp)
|
|
|
NM_001040716.2(PC):c.2990G>A (p.Arg997Gln)
|
|
|
NM_001040716.2(PC):c.3004G>A (p.Val1002Met)
|
rs1289376036
|
|
NM_001040716.2(PC):c.311A>T (p.Lys104Met)
|
|
|
NM_001040716.2(PC):c.3127A>G (p.Lys1043Glu)
|
rs1470869408
|
|
NM_001040716.2(PC):c.316G>T (p.Ala106Ser)
|
rs868221703
|
|
NM_001040716.2(PC):c.3182A>G (p.Lys1061Arg)
|
|
|
NM_001040716.2(PC):c.3199G>A (p.Asp1067Asn)
|
|
|
NM_001040716.2(PC):c.3228CTT[1] (p.Phe1078del)
|
rs1555014068
|
|
NM_001040716.2(PC):c.3249G>T (p.Gln1083His)
|
|
|
NM_001040716.2(PC):c.3288+4T>C
|
|
|
NM_001040716.2(PC):c.3288+5T>C
|
rs1945323792
|
|
NM_001040716.2(PC):c.3344C>T (p.Pro1115Leu)
|
rs2135783978
|
|
NM_001040716.2(PC):c.3380C>T (p.Ala1127Val)
|
rs200217380
|
|
NM_001040716.2(PC):c.3399G>A (p.Lys1133=)
|
rs776825183
|
|
NM_001040716.2(PC):c.3442G>T (p.Val1148Leu)
|
rs1298569042
|
|
NM_001040716.2(PC):c.3496A>G (p.Met1166Val)
|
rs1945302855
|
|
NM_001040716.2(PC):c.3514G>T (p.Asp1172Tyr)
|
|
|
NM_001040716.2(PC):c.3526G>A (p.Glu1176Lys)
|
|
|
NM_001040716.2(PC):c.3531C>T (p.Ile1177=)
|
rs144982348
|
|
NM_001040716.2(PC):c.410G>A (p.Arg137Gln)
|
|
|
NM_001040716.2(PC):c.410G>T (p.Arg137Leu)
|
rs772619045
|
|
NM_001040716.2(PC):c.439C>G (p.Arg147Gly)
|
rs529087425
|
|
NM_001040716.2(PC):c.439C>T (p.Arg147Cys)
|
|
|
NM_001040716.2(PC):c.446T>C (p.Met149Thr)
|
|
|
NM_001040716.2(PC):c.485C>T (p.Ala162Val)
|
rs752714051
|
|
NM_001040716.2(PC):c.488-6C>A
|
|
|
NM_001040716.2(PC):c.551C>G (p.Ser184Cys)
|
|
|
NM_001040716.2(PC):c.562G>A (p.Gly188Ser)
|
|
|
NM_001040716.2(PC):c.563G>T (p.Gly188Val)
|
rs1946713663
|
|
NM_001040716.2(PC):c.584C>T (p.Ala195Val)
|
rs1436643226
|
|
NM_001040716.2(PC):c.610A>C (p.Met204Leu)
|
|
|
NM_001040716.2(PC):c.667G>C (p.Glu223Gln)
|
|
|
NM_001040716.2(PC):c.751+4A>G
|
rs2135937467
|
|
NM_001040716.2(PC):c.75C>T (p.Ala25=)
|
rs886048557
|
|
NM_001040716.2(PC):c.77C>T (p.Ser26Phe)
|
rs2135943988
|
|
NM_001040716.2(PC):c.788G>A (p.Arg263Gln)
|
rs769177104
|
|
NM_001040716.2(PC):c.796T>G (p.Ser266Ala)
|
rs113994142
|
|
NM_001040716.2(PC):c.820G>A (p.Val274Met)
|
|
|
NM_001040716.2(PC):c.838G>A (p.Ala280Thr)
|
rs752585997
|
|
NM_001040716.2(PC):c.863G>A (p.Arg288Gln)
|
|
|
NM_001040716.2(PC):c.92G>A (p.Arg31His)
|
|
|
NM_001040716.2(PC):c.952G>A (p.Gly318Ser)
|
|
|
NM_001041.3(SI):c.*473G>A
|
rs1717036361
|
|
NM_001041.4(SI):c.*151A>G
|
rs1260115524
|
|
NM_001041.4(SI):c.*229T>C
|
rs886058140
|
|
NM_001041.4(SI):c.1147-13T>A
|
rs771233611
|
|
NM_001041.4(SI):c.1347ACA[1] (p.Gln450del)
|
rs1446666305
|
|
NM_001041.4(SI):c.1380T>C (p.Ser460=)
|
rs886058148
|
|
NM_001041.4(SI):c.1399-402_1513-1189dup
|
|
|
NM_001041.4(SI):c.1567A>C (p.Asn523His)
|
rs780055379
|
|
NM_001041.4(SI):c.1654T>C (p.Trp552Arg)
|
rs1034161542
|
|
NM_001041.4(SI):c.16T>C (p.Phe6Leu)
|
rs886058151
|
|
NM_001041.4(SI):c.1715+14C>A
|
rs867982218
|
|
NM_001041.4(SI):c.1910T>G (p.Phe637Cys)
|
rs886058147
|
|
NM_001041.4(SI):c.1911_1912insCTTCT (p.Val638fs)
|
rs967166732
|
|
NM_001041.4(SI):c.2381G>T (p.Gly794Val)
|
rs886058146
|
|
NM_001041.4(SI):c.2428C>A (p.Arg810Ser)
|
rs370537003
|
|
NM_001041.4(SI):c.2737-23_2737-22dup
|
rs11452619
|
|
NM_001041.4(SI):c.2737-8del
|
rs886058145
|
|
NM_001041.4(SI):c.2772A>G (p.Gly924=)
|
rs1712190551
|
|
NM_001041.4(SI):c.2859A>G (p.Gln953=)
|
rs1444268809
|
|
NM_001041.4(SI):c.3064G>A (p.Val1022Met)
|
rs201018248
|
|
NM_001041.4(SI):c.3186_3187del (p.Leu1062_Tyr1063insTer)
|
rs776569472
|
|
NM_001041.4(SI):c.3540T>C (p.Thr1180=)
|
rs759754319
|
|
NM_001041.4(SI):c.3557G>T (p.Arg1186Leu)
|
rs762898979
|
|
NM_001041.4(SI):c.371T>C (p.Ile124Thr)
|
rs889224862
|
|
NM_001041.4(SI):c.3729T>C (p.Tyr1243=)
|
rs779155501
|
|
NM_001041.4(SI):c.373+11C>T
|
rs373374968
|
|
NM_001041.4(SI):c.3790G>A (p.Glu1264Lys)
|
rs886058144
|
|
NM_001041.4(SI):c.3836C>T (p.Pro1279Leu)
|
rs886058143
|
|
NM_001041.4(SI):c.3865G>A (p.Gly1289Arg)
|
rs1559990351
|
|
NM_001041.4(SI):c.3995C>A (p.Ala1332Glu)
|
rs747041492
|
|
NM_001041.4(SI):c.4014G>A (p.Leu1338=)
|
rs1718841872
|
|
NM_001041.4(SI):c.4077T>C (p.His1359=)
|
rs886058142
|
|
NM_001041.4(SI):c.4191G>A (p.Glu1397=)
|
rs886058141
|
|
NM_001041.4(SI):c.4209T>C (p.Asn1403=)
|
rs113826825
|
|
NM_001041.4(SI):c.4267+9T>C
|
rs1718590792
|
|
NM_001041.4(SI):c.4772C>A (p.Pro1591His)
|
rs1717913697
|
|
NM_001041.4(SI):c.4793A>T (p.His1598Leu)
|
rs562705407
|
|
NM_001041.4(SI):c.483+8T>G
|
rs1714387601
|
|
NM_001041.4(SI):c.4841+15T>A
|
rs1041663787
|
|
NM_001041.4(SI):c.4842-3G>A
|
rs112107483
|
|
NM_001041.4(SI):c.4961C>G (p.Ala1654Gly)
|
rs150702232
|
|
NM_001041.4(SI):c.4963C>T (p.Arg1655Trp)
|
rs760505676
|
|
NM_001041.4(SI):c.5279G>A (p.Gly1760Asp)
|
rs145556619
|
|
NM_001041.4(SI):c.5279G>T (p.Gly1760Val)
|
rs145556619
|
|
NM_001041.4(SI):c.5319T>C (p.His1773=)
|
rs774545616
|
|
NM_001041.4(SI):c.5393T>G (p.Phe1798Cys)
|
|
|
NM_001041.4(SI):c.635+3A>G
|
rs879204269
|
|
NM_001041.4(SI):c.636-14_636-10del
|
rs886058150
|
|
NM_001042351.3(G6PD):c.-9+14C>G
|
rs2070776414
|
|
NM_001064.4(TKT):c.1136G>A (p.Arg379His)
|
|
|
NM_001064.4(TKT):c.1604T>A (p.Phe535Tyr)
|
|
|
NM_001080510.5(METTL23):c.266T>A (p.Leu89Gln)
|
|
|
NM_001080510.5(METTL23):c.275CAC[1] (p.Pro93del)
|
rs773937309
|
|
NM_001080510.5(METTL23):c.417G>T (p.Trp139Cys)
|
rs2077335572
|
|
NM_001080510.5(METTL23):c.496G>T (p.Asp166Tyr)
|
rs138247613
|
|
NM_001080510.5(METTL23):c.521G>T (p.Gly174Val)
|
rs1395171597
|
|
NM_001099857.5(IKBKG):c.-16+1G>T
|
rs2148357351
|
|
NM_001100878.2(MROH6):c.1904A>T (p.Asn635Ile)
|
rs1173787317
|
|
NM_001136035.4(TRMT1):c.1019+9G>C
|
rs375881785
|
|
NM_001136035.4(TRMT1):c.1054G>A (p.Gly352Arg)
|
|
|
NM_001136035.4(TRMT1):c.1078G>A (p.Gly360Ser)
|
rs753225455
|
|
NM_001136035.4(TRMT1):c.1385T>C (p.Leu462Pro)
|
|
|
NM_001136035.4(TRMT1):c.21G>A (p.Trp7Ter)
|
rs1357887994
|
|
NM_001136035.4(TRMT1):c.583C>T (p.Arg195Trp)
|
rs1006351159
|
|
NM_001136035.4(TRMT1):c.814A>G (p.Thr272Ala)
|
rs759911177
|
|
NM_001160372.4(TRAPPC9):c.101T>G (p.Ile34Ser)
|
|
|
NM_001160372.4(TRAPPC9):c.1099T>G (p.Phe367Val)
|
|
|
NM_001160372.4(TRAPPC9):c.1234G>T (p.Ala412Ser)
|
|
|
NM_001160372.4(TRAPPC9):c.124A>G (p.Ser42Gly)
|
|
|
NM_001160372.4(TRAPPC9):c.1310C>A (p.Pro437His)
|
rs1247214249
|
|
NM_001160372.4(TRAPPC9):c.1380G>T (p.Gln460His)
|
|
|
NM_001160372.4(TRAPPC9):c.1496-3C>T
|
rs942972668
|
|
NM_001160372.4(TRAPPC9):c.2067A>T (p.Glu689Asp)
|
|
|
NM_001160372.4(TRAPPC9):c.239T>C (p.Leu80Pro)
|
rs2132705299
|
|
NM_001160372.4(TRAPPC9):c.269A>G (p.Lys90Arg)
|
rs550423753
|
|
NM_001160372.4(TRAPPC9):c.2761A>C (p.Ser921Arg)
|
|
|
NM_001160372.4(TRAPPC9):c.2795C>A (p.Ala932Asp)
|
rs759330508
|
|
NM_001160372.4(TRAPPC9):c.2892G>T (p.Lys964Asn)
|
|
|
NM_001160372.4(TRAPPC9):c.3047T>C (p.Leu1016Pro)
|
rs1829977055
|
|
NM_001160372.4(TRAPPC9):c.3280-8C>G
|
rs752940904
|
|
NM_001160372.4(TRAPPC9):c.431_446del (p.Val144fs)
|
|
|
NM_001160372.4(TRAPPC9):c.584+1G>A
|
rs1292031022
|
|
NM_001160372.4(TRAPPC9):c.677_683dup (p.Met228fs)
|
rs886062727
|
|
NM_001160372.4(TRAPPC9):c.799G>A (p.Gly267Arg)
|
|
|
NM_001164277.2(SLC37A4):c.*11G>A
|
rs978301169
|
|
NM_001164277.2(SLC37A4):c.*12G>A
|
rs1221264103
|
|
NM_001164277.2(SLC37A4):c.*139G>T
|
rs886047747
|
|
NM_001164277.2(SLC37A4):c.*1AG[2]
|
rs782195068
|
|
NM_001164277.2(SLC37A4):c.*360C>G
|
rs886047744
|
|
NM_001164277.2(SLC37A4):c.*5A>C
|
rs373050741
|
|
NM_001164277.2(SLC37A4):c.*5A>G
|
rs373050741
|
|
NM_001164277.2(SLC37A4):c.*5A>T
|
rs373050741
|
|
NM_001164277.2(SLC37A4):c.-108G>A
|
rs536032716
|
|
NM_001164277.2(SLC37A4):c.-10C>G
|
rs782655025
|
|
NM_001164277.2(SLC37A4):c.-13G>T
|
rs1555191914
|
|
NM_001164277.2(SLC37A4):c.-15C>T
|
rs1210959942
|
|
NM_001164277.2(SLC37A4):c.-16C>A
|
rs1555191915
|
|
NM_001164277.2(SLC37A4):c.-16C>G
|
rs1555191915
|
|
NM_001164277.2(SLC37A4):c.-195-11G>T
|
rs886047751
|
|
NM_001164277.2(SLC37A4):c.-217G>A
|
rs527772065
|
|
NM_001164277.2(SLC37A4):c.-291del
|
rs754442670
|
|
NM_001164277.2(SLC37A4):c.-2C>T
|
rs1318999121
|
|
NM_001164277.2(SLC37A4):c.-384G>A
|
rs886047753
|
|
NM_001164277.2(SLC37A4):c.-439T>C
|
rs1943713097
|
|
NM_001164277.2(SLC37A4):c.-498G>T
|
rs1555192177
|
|
NM_001164277.2(SLC37A4):c.-504G>C
|
rs1045560610
|
|
NM_001164277.2(SLC37A4):c.-506A>G
|
rs1555192180
|
|
NM_001164277.2(SLC37A4):c.-528C>T
|
rs1555192184
|
|
NM_001164277.2(SLC37A4):c.-535G>A
|
rs138523194
|
|
NM_001164277.2(SLC37A4):c.-594A>T
|
rs993428424
|
|
NM_001164277.2(SLC37A4):c.-99A>G
|
rs1943684789
|
|
NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu)
|
rs1326123837
|
|
NM_001164277.2(SLC37A4):c.1013T>C (p.Phe338Ser)
|
|
|
NM_001164277.2(SLC37A4):c.1022C>T (p.Ser341Phe)
|
rs938040106
|
|
NM_001164277.2(SLC37A4):c.1025C>T (p.Ser342Leu)
|
|
|
NM_001164277.2(SLC37A4):c.1028A>G (p.Tyr343Cys)
|
rs1555190525
|
|
NM_001164277.2(SLC37A4):c.1036A>C (p.Ile346Leu)
|
|
|
NM_001164277.2(SLC37A4):c.1036A>G (p.Ile346Val)
|
|
|
NM_001164277.2(SLC37A4):c.1038T>C (p.Ile346=)
|
|
|
NM_001164277.2(SLC37A4):c.1038T>G (p.Ile346Met)
|
rs1555190517
|
|
NM_001164277.2(SLC37A4):c.1039G>A (p.Ala347Thr)
|
rs1555190513
|
|
NM_001164277.2(SLC37A4):c.103A>G (p.Met35Val)
|
rs782533083
|
|
NM_001164277.2(SLC37A4):c.1043T>C (p.Leu348Pro)
|
rs1210588522
|
|
NM_001164277.2(SLC37A4):c.1054A>G (p.Ile352Val)
|
rs1943524404
|
|
NM_001164277.2(SLC37A4):c.1055T>C (p.Ile352Thr)
|
rs1342845276
|
|
NM_001164277.2(SLC37A4):c.1057G>T (p.Ala353Ser)
|
rs1555190504
|
|
NM_001164277.2(SLC37A4):c.1063_1064delinsAG (p.Glu355Arg)
|
|
|
NM_001164277.2(SLC37A4):c.1064A>C (p.Glu355Ala)
|
|
|
NM_001164277.2(SLC37A4):c.1072C>T (p.Pro358Ser)
|
|
|
NM_001164277.2(SLC37A4):c.1076C>T (p.Pro359Leu)
|
rs1555190480
|
|
NM_001164277.2(SLC37A4):c.1079A>G (p.Asn360Ser)
|
rs782182577
|
|
NM_001164277.2(SLC37A4):c.107C>T (p.Pro36Leu)
|
rs781797026
|
|
NM_001164277.2(SLC37A4):c.1085G>C (p.Cys362Ser)
|
|
|
NM_001164277.2(SLC37A4):c.1099G>C (p.Ala367Pro)
|
|
|
NM_001164277.2(SLC37A4):c.1115T>C (p.Met372Thr)
|
rs1555190443
|
|
NM_001164277.2(SLC37A4):c.1117G>A (p.Ala373Thr)
|
rs1565686175
|
|
NM_001164277.2(SLC37A4):c.1119C>T (p.Ala373=)
|
rs886047749
|
|
NM_001164277.2(SLC37A4):c.1121A>G (p.Asn374Ser)
|
|
|
NM_001164277.2(SLC37A4):c.1124+17A>G
|
|
|
NM_001164277.2(SLC37A4):c.1124+4A>C
|
|
|
NM_001164277.2(SLC37A4):c.1124+4A>G
|
rs1555190440
|
|
NM_001164277.2(SLC37A4):c.1124+5G>A
|
rs2134627689
|
|
NM_001164277.2(SLC37A4):c.1124T>C (p.Val375Ala)
|
|
|
NM_001164277.2(SLC37A4):c.1125-14T>C
|
rs1555190405
|
|
NM_001164277.2(SLC37A4):c.1125-15C>G
|
|
|
NM_001164277.2(SLC37A4):c.1125-3C>A
|
|
|
NM_001164277.2(SLC37A4):c.1125-6T>G
|
rs782323567
|
|
NM_001164277.2(SLC37A4):c.1125-8C>T
|
rs1555190404
|
|
NM_001164277.2(SLC37A4):c.1127G>A (p.Gly376Asp)
|
rs781962569
|
|
NM_001164277.2(SLC37A4):c.1148C>T (p.Pro383Leu)
|
rs1555190400
|
|
NM_001164277.2(SLC37A4):c.1150T>C (p.Phe384Leu)
|
rs1555190399
|
|
NM_001164277.2(SLC37A4):c.1154G>C (p.Ser385Thr)
|
rs782603818
|
|
NM_001164277.2(SLC37A4):c.1155C>A (p.Ser385Arg)
|
rs1440498520
|
|
NM_001164277.2(SLC37A4):c.1165A>G (p.Lys389Glu)
|
rs1555190395
|
|
NM_001164277.2(SLC37A4):c.1170C>T (p.His390=)
|
|
|
NM_001164277.2(SLC37A4):c.1176T>A (p.Ser392Arg)
|
rs782552989
|
|
NM_001164277.2(SLC37A4):c.1176T>G (p.Ser392Arg)
|
rs782552989
|
|
NM_001164277.2(SLC37A4):c.1195G>A (p.Val399Met)
|
rs1555190381
|
|
NM_001164277.2(SLC37A4):c.1201G>C (p.Glu401Gln)
|
rs1555190378
|
|
NM_001164277.2(SLC37A4):c.1201_1218dup (p.Ala406_Ser407insGluValIleCysAlaAla)
|
|
|
NM_001164277.2(SLC37A4):c.1211G>C (p.Cys404Ser)
|
rs781818280
|
|
NM_001164277.2(SLC37A4):c.1216G>C (p.Ala406Pro)
|
|
|
NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr)
|
rs886047748
|
|
NM_001164277.2(SLC37A4):c.122A>G (p.Glu41Gly)
|
rs782470624
|
|
NM_001164277.2(SLC37A4):c.1231_1232delinsGC (p.Phe411Ala)
|
|
|
NM_001164277.2(SLC37A4):c.1241T>C (p.Leu414Pro)
|
rs1555190359
|
|
NM_001164277.2(SLC37A4):c.1249A>G (p.Ile417Val)
|
|
|
NM_001164277.2(SLC37A4):c.1256C>T (p.Thr419Ile)
|
rs782594411
|
|
NM_001164277.2(SLC37A4):c.1258A>G (p.Lys420Glu)
|
rs890913792
|
|
NM_001164277.2(SLC37A4):c.1264G>A (p.Gly422Ser)
|
rs1555190347
|
|
NM_001164277.2(SLC37A4):c.1265G>C (p.Gly422Ala)
|
rs2134626279
|
|
NM_001164277.2(SLC37A4):c.1268G>T (p.Arg423Leu)
|
rs781849575
|
|
NM_001164277.2(SLC37A4):c.1270G>T (p.Val424Leu)
|
rs1438944888
|
|
NM_001164277.2(SLC37A4):c.1271T>A (p.Val424Glu)
|
|
|
NM_001164277.2(SLC37A4):c.1277A>G (p.Lys426Arg)
|
|
|
NM_001164277.2(SLC37A4):c.1279_1280delinsGC (p.Lys427Ala)
|
|
|
NM_001164277.2(SLC37A4):c.127C>G (p.Pro43Ala)
|
rs781846380
|
|
NM_001164277.2(SLC37A4):c.127C>T (p.Pro43Ser)
|
rs781846380
|
|
NM_001164277.2(SLC37A4):c.1283C>T (p.Ala428Val)
|
rs1245752008
|
|
NM_001164277.2(SLC37A4):c.1287G>C (p.Glu429Asp)
|
rs1483724786
|
|
NM_001164277.2(SLC37A4):c.1287_1290del (p.Ter430GluextTer?)
|
rs1592107594
|
|
NM_001164277.2(SLC37A4):c.131T>C (p.Leu44Ser)
|
|
|
NM_001164277.2(SLC37A4):c.137A>G (p.Lys46Arg)
|
|
|
NM_001164277.2(SLC37A4):c.139G>C (p.Asp47His)
|
rs1943672924
|
|
NM_001164277.2(SLC37A4):c.13G>A (p.Gly5Ser)
|
rs571267951
|
|
NM_001164277.2(SLC37A4):c.13G>C (p.Gly5Arg)
|
rs571267951
|
|
NM_001164277.2(SLC37A4):c.13GGCTAT[3] (p.5GY[3])
|
rs782663171
|
|
NM_001164277.2(SLC37A4):c.140A>G (p.Asp47Gly)
|
rs1555191832
|
|
NM_001164277.2(SLC37A4):c.148+4A>G
|
rs1943672237
|
|
NM_001164277.2(SLC37A4):c.148+6C>T
|
rs1565691594
|
|
NM_001164277.2(SLC37A4):c.148+7C>T
|
rs782814241
|
|
NM_001164277.2(SLC37A4):c.149-11G>A
|
rs1555191644
|
|
NM_001164277.2(SLC37A4):c.149-9T>C
|
|
|
NM_001164277.2(SLC37A4):c.149G>A (p.Gly50Glu)
|
rs193302877
|
|
NM_001164277.2(SLC37A4):c.149G>T (p.Gly50Val)
|
rs193302877
|
|
NM_001164277.2(SLC37A4):c.14G>A (p.Gly5Asp)
|
rs2134644442
|
|
NM_001164277.2(SLC37A4):c.152TCA[1] (p.Ile52del)
|
rs1943642881
|
|
NM_001164277.2(SLC37A4):c.154A>C (p.Ile52Leu)
|
rs1565690903
|
|
NM_001164277.2(SLC37A4):c.160A>G (p.Ser54Gly)
|
rs1555191637
|
|
NM_001164277.2(SLC37A4):c.173C>T (p.Ala58Val)
|
rs782083266
|
|
NM_001164277.2(SLC37A4):c.178T>C (p.Tyr60His)
|
rs1555191626
|
|
NM_001164277.2(SLC37A4):c.184A>G (p.Ile62Val)
|
rs1555191625
|
|
NM_001164277.2(SLC37A4):c.189C>G (p.Ser63Arg)
|
rs1359256648
|
|
NM_001164277.2(SLC37A4):c.191A>G (p.Lys64Arg)
|
|
|
NM_001164277.2(SLC37A4):c.217C>A (p.Gln73Lys)
|
rs1555191604
|
|
NM_001164277.2(SLC37A4):c.217C>G (p.Gln73Glu)
|
rs1555191604
|
|
NM_001164277.2(SLC37A4):c.224G>C (p.Ser75Thr)
|
rs1555191603
|
|
NM_001164277.2(SLC37A4):c.226G>C (p.Ala76Pro)
|
rs948802122
|
|
NM_001164277.2(SLC37A4):c.227C>T (p.Ala76Val)
|
rs782429783
|
|
NM_001164277.2(SLC37A4):c.229C>A (p.Arg77Ser)
|
rs1417623185
|
|
NM_001164277.2(SLC37A4):c.229C>G (p.Arg77Gly)
|
|
|
NM_001164277.2(SLC37A4):c.229C>T (p.Arg77Cys)
|
|
|
NM_001164277.2(SLC37A4):c.230G>A (p.Arg77His)
|
rs370839177
|
|
NM_001164277.2(SLC37A4):c.232T>C (p.Trp78Arg)
|
|
|
NM_001164277.2(SLC37A4):c.240C>G (p.Phe80Leu)
|
rs1191615872
|
|
NM_001164277.2(SLC37A4):c.252G>T (p.Leu84=)
|
|
|
NM_001164277.2(SLC37A4):c.263G>T (p.Gly88Val)
|
rs193302886
|
|
NM_001164277.2(SLC37A4):c.268G>A (p.Val90Ile)
|
rs1555191582
|
|
NM_001164277.2(SLC37A4):c.274A>G (p.Ile92Val)
|
rs1280285676
|
|
NM_001164277.2(SLC37A4):c.278T>A (p.Phe93Tyr)
|
rs782563826
|
|
NM_001164277.2(SLC37A4):c.282T>G (p.Phe94Leu)
|
rs1555191568
|
|
NM_001164277.2(SLC37A4):c.28C>G (p.Arg10Gly)
|
rs546577012
|
|
NM_001164277.2(SLC37A4):c.301C>G (p.Pro101Ala)
|
|
|
NM_001164277.2(SLC37A4):c.302C>T (p.Pro101Leu)
|
rs1555191550
|
|
NM_001164277.2(SLC37A4):c.309T>G (p.Phe103Leu)
|
rs1171686379
|
|
NM_001164277.2(SLC37A4):c.31A>C (p.Thr11Pro)
|
rs1399227780
|
|
NM_001164277.2(SLC37A4):c.332G>A (p.Gly111Asp)
|
rs1356550790
|
|
NM_001164277.2(SLC37A4):c.337G>A (p.Ala113Thr)
|
|
|
NM_001164277.2(SLC37A4):c.339C>T (p.Ala113=)
|
rs1376674013
|
|
NM_001164277.2(SLC37A4):c.347T>C (p.Leu116Pro)
|
|
|
NM_001164277.2(SLC37A4):c.349G>A (p.Gly117Ser)
|
|
|
NM_001164277.2(SLC37A4):c.355C>T (p.Pro119Ser)
|
rs1158229491
|
|
NM_001164277.2(SLC37A4):c.356C>G (p.Pro119Arg)
|
|
|
NM_001164277.2(SLC37A4):c.358C>T (p.Pro120Ser)
|
rs1045954164
|
|
NM_001164277.2(SLC37A4):c.364G>A (p.Gly122Arg)
|
rs1254956942
|
|
NM_001164277.2(SLC37A4):c.368A>C (p.Lys123Thr)
|
rs1555191517
|
|
NM_001164277.2(SLC37A4):c.369G>T (p.Lys123Asn)
|
|
|
NM_001164277.2(SLC37A4):c.371T>A (p.Val124Asp)
|
rs1555191510
|
|
NM_001164277.2(SLC37A4):c.381+4A>G
|
rs1555191499
|
|
NM_001164277.2(SLC37A4):c.381+5G>A
|
|
|
NM_001164277.2(SLC37A4):c.381G>A (p.Lys127=)
|
rs1315203966
|
|
NM_001164277.2(SLC37A4):c.382-15C>T
|
rs1555191417
|
|
NM_001164277.2(SLC37A4):c.382-3C>G
|
rs1555191407
|
|
NM_001164277.2(SLC37A4):c.382-6C>A
|
rs756248657
|
|
NM_001164277.2(SLC37A4):c.382-6C>T
|
rs756248657
|
|
NM_001164277.2(SLC37A4):c.382T>C (p.Trp128Arg)
|
rs1555191405
|
|
NM_001164277.2(SLC37A4):c.382T>G (p.Trp128Gly)
|
rs1555191405
|
|
NM_001164277.2(SLC37A4):c.388G>A (p.Glu130Lys)
|
rs1555191401
|
|
NM_001164277.2(SLC37A4):c.389A>C (p.Glu130Ala)
|
rs1465764979
|
|
NM_001164277.2(SLC37A4):c.38T>A (p.Ile13Asn)
|
|
|
NM_001164277.2(SLC37A4):c.390G>C (p.Glu130Asp)
|
rs752687782
|
|
NM_001164277.2(SLC37A4):c.399G>T (p.Gln133His)
|
rs767772187
|
|
NM_001164277.2(SLC37A4):c.402T>G (p.Phe134Leu)
|
rs1555191386
|
|
NM_001164277.2(SLC37A4):c.412T>C (p.Trp138Arg)
|
|
|
NM_001164277.2(SLC37A4):c.420C>G (p.Ile140Met)
|
rs2134638252
|
|
NM_001164277.2(SLC37A4):c.422T>A (p.Leu141Gln)
|
rs1555191378
|
|
NM_001164277.2(SLC37A4):c.430A>G (p.Ser144Gly)
|
rs1555191372
|
|
NM_001164277.2(SLC37A4):c.44C>T (p.Ser15Leu)
|
rs1555191883
|
|
NM_001164277.2(SLC37A4):c.452T>C (p.Leu151Pro)
|
rs1555191353
|
|
NM_001164277.2(SLC37A4):c.45A>G (p.Ser15=)
|
rs1555191880
|
|
NM_001164277.2(SLC37A4):c.46G>A (p.Ala16Thr)
|
rs1555191879
|
|
NM_001164277.2(SLC37A4):c.473T>C (p.Ile158Thr)
|
|
|
NM_001164277.2(SLC37A4):c.492C>A (p.Ser164Arg)
|
rs369399624
|
|
NM_001164277.2(SLC37A4):c.492C>T (p.Ser164=)
|
rs369399624
|
|
NM_001164277.2(SLC37A4):c.497GCA[3] (p.Ser167dup)
|
rs2134637839
|
|
NM_001164277.2(SLC37A4):c.4G>A (p.Ala2Thr)
|
rs1555191907
|
|
NM_001164277.2(SLC37A4):c.508G>A (p.Ala170Thr)
|
rs1397362093
|
|
NM_001164277.2(SLC37A4):c.520G>A (p.Ala174Thr)
|
rs1432294427
|
|
NM_001164277.2(SLC37A4):c.523C>G (p.Leu175Val)
|
|
|
NM_001164277.2(SLC37A4):c.53T>C (p.Phe18Ser)
|
|
|
NM_001164277.2(SLC37A4):c.550C>T (p.Leu184Phe)
|
rs1555191258
|
|
NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe)
|
rs538938823
|
|
NM_001164277.2(SLC37A4):c.557T>A (p.Leu186His)
|
rs1943614259
|
|
NM_001164277.2(SLC37A4):c.560T>C (p.Ile187Thr)
|
rs1452797070
|
|
NM_001164277.2(SLC37A4):c.570A>T (p.Glu190Asp)
|
rs1555191237
|
|
NM_001164277.2(SLC37A4):c.577G>A (p.Asp193Asn)
|
|
|
NM_001164277.2(SLC37A4):c.580G>T (p.Val194Phe)
|
rs1041686986
|
|
NM_001164277.2(SLC37A4):c.581T>C (p.Val194Ala)
|
|
|
NM_001164277.2(SLC37A4):c.589C>T (p.Arg197Cys)
|
|
|
NM_001164277.2(SLC37A4):c.58G>T (p.Gly20Cys)
|
rs2134644210
|
|
NM_001164277.2(SLC37A4):c.593A>G (p.Asn198Ser)
|
|
|
NM_001164277.2(SLC37A4):c.596T>G (p.Leu199Arg)
|
rs2134637316
|
|
NM_001164277.2(SLC37A4):c.598G>T (p.Asp200Tyr)
|
|
|
NM_001164277.2(SLC37A4):c.59G>C (p.Gly20Ala)
|
rs193302881
|
|
NM_001164277.2(SLC37A4):c.600C>G (p.Asp200Glu)
|
rs1565689207
|
|
NM_001164277.2(SLC37A4):c.606G>A (p.Met202Ile)
|
rs764654621
|
|
NM_001164277.2(SLC37A4):c.607C>A (p.Pro203Thr)
|
rs534894133
|
|
NM_001164277.2(SLC37A4):c.611C>G (p.Ser204Cys)
|
rs567419206
|
|
NM_001164277.2(SLC37A4):c.611C>T (p.Ser204Phe)
|
rs567419206
|
|
NM_001164277.2(SLC37A4):c.613G>A (p.Glu205Lys)
|
|
|
NM_001164277.2(SLC37A4):c.615G>C (p.Glu205Asp)
|
|
|
NM_001164277.2(SLC37A4):c.61T>C (p.Tyr21His)
|
rs1943676569
|
|
NM_001164277.2(SLC37A4):c.623A>G (p.Lys208Arg)
|
|
|
NM_001164277.2(SLC37A4):c.626+4A>C
|
rs770644132
|
|
NM_001164277.2(SLC37A4):c.626+5G>A
|
rs1943610138
|
|
NM_001164277.2(SLC37A4):c.626+6C>T
|
rs762685017
|
|
NM_001164277.2(SLC37A4):c.627-12T>C
|
rs1555191134
|
|
NM_001164277.2(SLC37A4):c.627-3C>T
|
rs1349289897
|
|
NM_001164277.2(SLC37A4):c.634_636del (p.Lys212del)
|
rs782141145
|
|
NM_001164277.2(SLC37A4):c.637GAG[1] (p.Glu214del)
|
rs1555191121
|
|
NM_001164277.2(SLC37A4):c.653A>G (p.Gln218Arg)
|
rs782005026
|
|
NM_001164277.2(SLC37A4):c.66C>G (p.Ser22Arg)
|
|
|
NM_001164277.2(SLC37A4):c.679T>C (p.Trp227Arg)
|
rs1176277831
|
|
NM_001164277.2(SLC37A4):c.680G>C (p.Trp227Ser)
|
rs1555191101
|
|
NM_001164277.2(SLC37A4):c.682G>A (p.Val228Met)
|
rs782167890
|
|
NM_001164277.2(SLC37A4):c.692C>T (p.Thr231Ile)
|
|
|
NM_001164277.2(SLC37A4):c.703G>C (p.Val235Leu)
|
rs141105181
|
|
NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu)
|
rs1295327218
|
|
NM_001164277.2(SLC37A4):c.715G>A (p.Val239Ile)
|
rs1555191080
|
|
NM_001164277.2(SLC37A4):c.721A>G (p.Thr241Ala)
|
rs1555191079
|
|
NM_001164277.2(SLC37A4):c.724T>G (p.Cys242Gly)
|
|
|
NM_001164277.2(SLC37A4):c.725G>C (p.Cys242Ser)
|
rs1555191077
|
|
NM_001164277.2(SLC37A4):c.728G>A (p.Cys243Tyr)
|
rs1555191076
|
|
NM_001164277.2(SLC37A4):c.740G>A (p.Gly247Asp)
|
rs1345697523
|
|
NM_001164277.2(SLC37A4):c.743A>G (p.Gln248Arg)
|
|
|
NM_001164277.2(SLC37A4):c.744G>T (p.Gln248His)
|
|
|
NM_001164277.2(SLC37A4):c.747C>A (p.Phe249Leu)
|
rs782584884
|
|
NM_001164277.2(SLC37A4):c.751C>G (p.Leu251Val)
|
rs2134634814
|
|
NM_001164277.2(SLC37A4):c.752T>C (p.Leu251Pro)
|
rs1565688326
|
|
NM_001164277.2(SLC37A4):c.760G>A (p.Glu254Lys)
|
rs1555191060
|
|
NM_001164277.2(SLC37A4):c.770A>G (p.Gln257Arg)
|
|
|
NM_001164277.2(SLC37A4):c.779T>G (p.Leu260Arg)
|
rs1555191054
|
|
NM_001164277.2(SLC37A4):c.780_781insTCTTACCTT (p.Leu260_Val261insSerTyrLeu)
|
rs1565688245
|
|
NM_001164277.2(SLC37A4):c.785G>C (p.Gly262Ala)
|
rs782692832
|
|
NM_001164277.2(SLC37A4):c.793T>C (p.Tyr265His)
|
|
|
NM_001164277.2(SLC37A4):c.796A>G (p.Met266Val)
|
|
|
NM_001164277.2(SLC37A4):c.803C>T (p.Ala268Val)
|
rs1029013255
|
|
NM_001164277.2(SLC37A4):c.812T>A (p.Val271Asp)
|
|
|
NM_001164277.2(SLC37A4):c.823G>A (p.Val275Ile)
|
rs1226267943
|
|
NM_001164277.2(SLC37A4):c.824T>G (p.Val275Gly)
|
rs2134633732
|
|
NM_001164277.2(SLC37A4):c.827G>C (p.Gly276Ala)
|
rs1350014866
|
|
NM_001164277.2(SLC37A4):c.83G>T (p.Arg28Leu)
|
|
|
NM_001164277.2(SLC37A4):c.85A>G (p.Lys29Glu)
|
rs1943675245
|
|
NM_001164277.2(SLC37A4):c.862A>G (p.Met288Val)
|
rs1555190944
|
|
NM_001164277.2(SLC37A4):c.866C>T (p.Ala289Val)
|
rs1555190938
|
|
NM_001164277.2(SLC37A4):c.870G>C (p.Lys290Asn)
|
rs1555190931
|
|
NM_001164277.2(SLC37A4):c.871+5G>A
|
rs1250046397
|
|
NM_001164277.2(SLC37A4):c.871+6C>G
|
rs377101167
|
|
NM_001164277.2(SLC37A4):c.872-10G>A
|
rs1555190776
|
|
NM_001164277.2(SLC37A4):c.872-12C>T
|
rs200279011
|
|
NM_001164277.2(SLC37A4):c.872-15_872-9dup
|
rs782321213
|
|
NM_001164277.2(SLC37A4):c.872C>G (p.Ala291Gly)
|
rs200147602
|
|
NM_001164277.2(SLC37A4):c.874G>C (p.Gly292Arg)
|
rs1320796917
|
|
NM_001164277.2(SLC37A4):c.877C>A (p.Leu293Met)
|
rs1555190769
|
|
NM_001164277.2(SLC37A4):c.87G>T (p.Lys29Asn)
|
|
|
NM_001164277.2(SLC37A4):c.884A>G (p.Asn295Ser)
|
rs1555190764
|
|
NM_001164277.2(SLC37A4):c.886T>C (p.Tyr296His)
|
rs763008231
|
|
NM_001164277.2(SLC37A4):c.886_888delinsCAA (p.Tyr296Gln)
|
rs1943560243
|
|
NM_001164277.2(SLC37A4):c.891G>T (p.Gly297=)
|
rs1388277495
|
|
NM_001164277.2(SLC37A4):c.894C>A (p.Asn298Lys)
|
|
|
NM_001164277.2(SLC37A4):c.89C>A (p.Thr30Asn)
|
rs987244110
|
|
NM_001164277.2(SLC37A4):c.89C>T (p.Thr30Ile)
|
|
|
NM_001164277.2(SLC37A4):c.901C>G (p.His301Asp)
|
rs539911116
|
|
NM_001164277.2(SLC37A4):c.901C>T (p.His301Tyr)
|
|
|
NM_001164277.2(SLC37A4):c.904G>A (p.Gly302Ser)
|
rs1555190753
|
|
NM_001164277.2(SLC37A4):c.919A>G (p.Met307Val)
|
|
|
NM_001164277.2(SLC37A4):c.920T>C (p.Met307Thr)
|
rs1555190739
|
|
NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)
|
rs786204477
|
|
NM_001164277.2(SLC37A4):c.925G>A (p.Ala309Thr)
|
rs1335122136
|
|
NM_001164277.2(SLC37A4):c.928G>A (p.Gly310Ser)
|
|
|
NM_001164277.2(SLC37A4):c.92T>A (p.Phe31Tyr)
|
rs1555191854
|
|
NM_001164277.2(SLC37A4):c.92_94del (p.Phe31del)
|
rs1432360280
|
|
NM_001164277.2(SLC37A4):c.937G>A (p.Val313Met)
|
rs1555190726
|
|
NM_001164277.2(SLC37A4):c.944T>G (p.Met315Arg)
|
|
|
NM_001164277.2(SLC37A4):c.949C>G (p.Leu317Val)
|
|
|
NM_001164277.2(SLC37A4):c.956G>C (p.Arg319Pro)
|
rs782703235
|
|
NM_001164277.2(SLC37A4):c.956G>T (p.Arg319Leu)
|
|
|
NM_001164277.2(SLC37A4):c.958G>A (p.Val320Ile)
|
rs1168556886
|
|
NM_001164277.2(SLC37A4):c.958G>T (p.Val320Leu)
|
rs1168556886
|
|
NM_001164277.2(SLC37A4):c.961A>T (p.Thr321Ser)
|
|
|
NM_001164277.2(SLC37A4):c.977C>A (p.Ser326Tyr)
|
rs1943553852
|
|
NM_001164277.2(SLC37A4):c.979C>T (p.Pro327Ser)
|
|
|
NM_001164277.2(SLC37A4):c.984G>A (p.Lys328=)
|
|
|
NM_001164277.2(SLC37A4):c.985+219T>C
|
rs1555190648
|
|
NM_001164277.2(SLC37A4):c.985+241C>G
|
rs1555190639
|
|
NM_001164277.2(SLC37A4):c.985+244T>G
|
rs1555190637
|
|
NM_001164277.2(SLC37A4):c.985+259G>A
|
rs1384684015
|
|
NM_001164277.2(SLC37A4):c.985+3A>G
|
rs782121210
|
|
NM_001164277.2(SLC37A4):c.985C>A (p.Leu329Ile)
|
rs1555190563
|
|
NM_001164277.2(SLC37A4):c.986-14T>G
|
rs863224211
|
|
NM_001164277.2(SLC37A4):c.986-4del
|
rs1555190566
|
|
NM_001164277.2(SLC37A4):c.993C>G (p.Ile331Met)
|
rs1555190553
|
|
NM_001164277.2(SLC37A4):c.997G>C (p.Val333Leu)
|
rs782443770
|
|
NM_001164277.2(SLC37A4):c.99T>G (p.Phe33Leu)
|
rs1555191848
|
|
NM_001243177.4(ALDOA):c.1010A>G (p.Asn337Ser)
|
|
|
NM_001243177.4(ALDOA):c.1033C>A (p.Pro345Thr)
|
|
|
NM_001243177.4(ALDOA):c.1085C>T (p.Ala362Val)
|
|
|
NM_001243177.4(ALDOA):c.1114A>G (p.Lys372Glu)
|
|
|
NM_001243177.4(ALDOA):c.1124T>C (p.Leu375Pro)
|
|
|
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
|
|
|
NM_001243177.4(ALDOA):c.1151A>G (p.Lys384Arg)
|
|
|
NM_001243177.4(ALDOA):c.1154G>A (p.Arg385Gln)
|
|
|
NM_001243177.4(ALDOA):c.1156G>A (p.Ala386Thr)
|
|
|
NM_001243177.4(ALDOA):c.1160del (p.Leu387fs)
|
|
|
NM_001243177.4(ALDOA):c.1169G>C (p.Ser390Thr)
|
|
|
NM_001243177.4(ALDOA):c.1171C>G (p.Leu391Val)
|
|
|
NM_001243177.4(ALDOA):c.1186A>G (p.Lys396Glu)
|
|
|
NM_001243177.4(ALDOA):c.1208C>G (p.Ala403Gly)
|
rs1261199026
|
|
NM_001243177.4(ALDOA):c.1250C>T (p.Ala417Val)
|
|
|
NM_001243177.4(ALDOA):c.174A>G (p.Gln58=)
|
rs2072147536
|
|
NM_001243177.4(ALDOA):c.181G>A (p.Ala61Thr)
|
|
|
NM_001243177.4(ALDOA):c.220G>A (p.Ala74Thr)
|
|
|
NM_001243177.4(ALDOA):c.239C>T (p.Pro80Leu)
|
|
|
NM_001243177.4(ALDOA):c.273T>G (p.Thr91=)
|
rs2151015694
|
|
NM_001243177.4(ALDOA):c.289C>T (p.Arg97Trp)
|
|
|
NM_001243177.4(ALDOA):c.290G>A (p.Arg97Gln)
|
rs549146709
|
|
NM_001243177.4(ALDOA):c.290G>C (p.Arg97Pro)
|
|
|
NM_001243177.4(ALDOA):c.299C>T (p.Ser100Phe)
|
|
|
NM_001243177.4(ALDOA):c.302T>C (p.Ile101Thr)
|
|
|
NM_001243177.4(ALDOA):c.316A>G (p.Thr106Ala)
|
|
|
NM_001243177.4(ALDOA):c.317C>T (p.Thr106Ile)
|
|
|
NM_001243177.4(ALDOA):c.323A>G (p.Glu108Gly)
|
|
|
NM_001243177.4(ALDOA):c.330_331delinsCT (p.Arg111Cys)
|
|
|
NM_001243177.4(ALDOA):c.357_359del (p.Ala120del)
|
|
|
NM_001243177.4(ALDOA):c.364G>C (p.Asp122His)
|
rs201468609
|
|
NM_001243177.4(ALDOA):c.368G>A (p.Arg123His)
|
|
|
NM_001243177.4(ALDOA):c.400T>C (p.Phe134Leu)
|
rs2151016133
|
|
NM_001243177.4(ALDOA):c.425C>T (p.Ala142Val)
|
|
|
NM_001243177.4(ALDOA):c.437G>A (p.Arg146His)
|
rs747482925
|
|
NM_001243177.4(ALDOA):c.466G>T (p.Gly156Cys)
|
|
|
NM_001243177.4(ALDOA):c.469G>A (p.Gly157Ser)
|
|
|
NM_001243177.4(ALDOA):c.472G>A (p.Val158Ile)
|
rs2072169825
|
|
NM_001243177.4(ALDOA):c.499G>A (p.Val167Met)
|
|
|
NM_001243177.4(ALDOA):c.505C>T (p.Pro169Ser)
|
|
|
NM_001243177.4(ALDOA):c.515G>A (p.Gly172Glu)
|
|
|
NM_001243177.4(ALDOA):c.524G>A (p.Gly175Asp)
|
|
|
NM_001243177.4(ALDOA):c.562C>T (p.Arg188Cys)
|
|
|
NM_001243177.4(ALDOA):c.590C>A (p.Ala197Asp)
|
|
|
NM_001243177.4(ALDOA):c.613G>T (p.Val205Leu)
|
|
|
NM_001243177.4(ALDOA):c.649G>A (p.Ala217Thr)
|
|
|
NM_001243177.4(ALDOA):c.659A>G (p.Glu220Gly)
|
rs886051892
|
|
NM_001243177.4(ALDOA):c.680G>A (p.Arg227His)
|
|
|
NM_001243177.4(ALDOA):c.698A>T (p.Gln233Leu)
|
rs2151018036
|
|
NM_001243177.4(ALDOA):c.721G>A (p.Val241Met)
|
|
|
NM_001243177.4(ALDOA):c.733A>G (p.Ile245Val)
|
|
|
NM_001243177.4(ALDOA):c.763C>T (p.Arg255Cys)
|
|
|
NM_001243177.4(ALDOA):c.797C>T (p.Ala266Val)
|
|
|
NM_001243177.4(ALDOA):c.799G>C (p.Val267Leu)
|
|
|
NM_001243177.4(ALDOA):c.803A>G (p.Tyr268Cys)
|
|
|
NM_001243177.4(ALDOA):c.861G>A (p.Met287Ile)
|
|
|
NM_001243177.4(ALDOA):c.876T>G (p.His292Gln)
|
|
|
NM_001243177.4(ALDOA):c.884C>T (p.Thr295Ile)
|
|
|
NM_001243177.4(ALDOA):c.922G>C (p.Val308Leu)
|
|
|
NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala)
|
|
|
NM_001243177.4(ALDOA):c.934C>T (p.Arg312Cys)
|
|
|
NM_001243177.4(ALDOA):c.935G>A (p.Arg312His)
|
|
|
NM_001243177.4(ALDOA):c.951del (p.Ala318fs)
|
|
|
NM_001308093.3(GATA4):c.623T>A (p.Met208Lys)
|
rs140892695
|
|
NM_001352514.2(HLCS):c.*1614dup
|
rs886057068
|
|
NM_001352514.2(HLCS):c.*1997G>A
|
rs886057066
|
|
NM_001352514.2(HLCS):c.*2023G>A
|
rs886057065
|
|
NM_001352514.2(HLCS):c.*2267G>T
|
rs886057064
|
|
NM_001352514.2(HLCS):c.*2285G>A
|
rs886057063
|
|
NM_001352514.2(HLCS):c.*2647T>A
|
rs2089366675
|
|
NM_001352514.2(HLCS):c.*270dup
|
rs886057074
|
|
NM_001352514.2(HLCS):c.*2952CT[1]
|
rs886057061
|
|
NM_001352514.2(HLCS):c.*3050A>G
|
rs2089352875
|
|
NM_001352514.2(HLCS):c.*305T>C
|
rs2089455426
|
|
NM_001352514.2(HLCS):c.*3161G>T
|
rs886057060
|
|
NM_001352514.2(HLCS):c.*3162T>A
|
rs552016201
|
|
NM_001352514.2(HLCS):c.*3175A>G
|
rs2089348881
|
|
NM_001352514.2(HLCS):c.*3226del
|
rs35955622
|
|
NM_001352514.2(HLCS):c.*3226dup
|
rs35955622
|
|
NM_001352514.2(HLCS):c.1003G>A (p.Asp335Asn)
|
|
|
NM_001352514.2(HLCS):c.1030C>T (p.Leu344Phe)
|
|
|
NM_001352514.2(HLCS):c.1058T>C (p.Leu353Pro)
|
|
|
NM_001352514.2(HLCS):c.1081T>C (p.Cys361Arg)
|
|
|
NM_001352514.2(HLCS):c.1093G>T (p.Val365Phe)
|
rs1569216588
|
|
NM_001352514.2(HLCS):c.1102A>C (p.Thr368Pro)
|
|
|
NM_001352514.2(HLCS):c.1123G>C (p.Asp375His)
|
|
|
NM_001352514.2(HLCS):c.1132C>G (p.Gln378Glu)
|
|
|
NM_001352514.2(HLCS):c.1148A>G (p.Tyr383Cys)
|
|
|
NM_001352514.2(HLCS):c.1150C>A (p.Leu384Ile)
|
rs538157231
|
|
NM_001352514.2(HLCS):c.1233C>A (p.His411Gln)
|
rs1601802008
|
|
NM_001352514.2(HLCS):c.1264G>A (p.Ala422Thr)
|
|
|
NM_001352514.2(HLCS):c.1276G>A (p.Glu426Lys)
|
|
|
NM_001352514.2(HLCS):c.1295T>C (p.Leu432Ser)
|
|
|
NM_001352514.2(HLCS):c.1312T>C (p.Tyr438His)
|
|
|
NM_001352514.2(HLCS):c.1324C>G (p.Pro442Ala)
|
|
|
NM_001352514.2(HLCS):c.1342G>C (p.Gly448Arg)
|
|
|
NM_001352514.2(HLCS):c.1414G>A (p.Gly472Arg)
|
rs748444836
|
|
NM_001352514.2(HLCS):c.1414G>C (p.Gly472Arg)
|
rs748444836
|
|
NM_001352514.2(HLCS):c.1414G>T (p.Gly472Trp)
|
|
|
NM_001352514.2(HLCS):c.1436A>G (p.Gln479Arg)
|
rs899013389
|
|
NM_001352514.2(HLCS):c.1438G>T (p.Val480Leu)
|
|
|
NM_001352514.2(HLCS):c.1535G>A (p.Arg512Lys)
|
rs747688148
|
|
NM_001352514.2(HLCS):c.1535G>C (p.Arg512Thr)
|
|
|
NM_001352514.2(HLCS):c.1612G>A (p.Ala538Thr)
|
|
|
NM_001352514.2(HLCS):c.1631A>T (p.Asp544Val)
|
|
|
NM_001352514.2(HLCS):c.1658A>G (p.His553Arg)
|
rs2146336242
|
|
NM_001352514.2(HLCS):c.1668C>A (p.Ser556=)
|
rs771923409
|
|
NM_001352514.2(HLCS):c.1685C>A (p.Ser562Tyr)
|
rs770873445
|
|
NM_001352514.2(HLCS):c.1697C>G (p.Ser566Cys)
|
|
|
NM_001352514.2(HLCS):c.1721T>A (p.Val574Glu)
|
|
|
NM_001352514.2(HLCS):c.1741C>T (p.Pro581Ser)
|
|
|
NM_001352514.2(HLCS):c.1774G>A (p.Ala592Thr)
|
rs987805504
|
|
NM_001352514.2(HLCS):c.1781C>T (p.Ser594Leu)
|
rs973578825
|
|
NM_001352514.2(HLCS):c.1856C>G (p.Ala619Gly)
|
rs767190021
|
|
NM_001352514.2(HLCS):c.1879C>T (p.Arg627Cys)
|
|
|
NM_001352514.2(HLCS):c.1880G>A (p.Arg627His)
|
|
|
NM_001352514.2(HLCS):c.1909C>T (p.Pro637Ser)
|
rs2145777265
|
|
NM_001352514.2(HLCS):c.1920G>A (p.Met640Ile)
|
rs2145777174
|
|
NM_001352514.2(HLCS):c.1922G>T (p.Gly641Val)
|
rs1173267062
|
|
NM_001352514.2(HLCS):c.1936G>A (p.Ala646Thr)
|
|
|
NM_001352514.2(HLCS):c.1937C>T (p.Ala646Val)
|
|
|
NM_001352514.2(HLCS):c.1942C>T (p.Arg648Trp)
|
|
|
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg)
|
rs1555885056
|
|
NM_001352514.2(HLCS):c.1967G>A (p.Gly656Glu)
|
|
|
NM_001352514.2(HLCS):c.1970G>C (p.Gly657Ala)
|
|
|
NM_001352514.2(HLCS):c.1977G>A (p.Val659=)
|
rs886057075
|
|
NM_001352514.2(HLCS):c.2057C>T (p.Pro686Leu)
|
|
|
NM_001352514.2(HLCS):c.2080G>A (p.Val694Met)
|
|
|
NM_001352514.2(HLCS):c.2087T>C (p.Val696Ala)
|
|
|
NM_001352514.2(HLCS):c.2203A>G (p.Thr735Ala)
|
rs2089755704
|
|
NM_001352514.2(HLCS):c.2210T>C (p.Met737Thr)
|
|
|
NM_001352514.2(HLCS):c.2215G>A (p.Glu739Lys)
|
|
|
NM_001352514.2(HLCS):c.2230C>T (p.Leu744Phe)
|
|
|
NM_001352514.2(HLCS):c.2246T>G (p.Phe749Cys)
|
|
|
NM_001352514.2(HLCS):c.2251G>A (p.Val751Met)
|
rs1555882115
|
|
NM_001352514.2(HLCS):c.2267C>G (p.Pro756Arg)
|
rs1601100788
|
|
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del)
|
rs1555882090
|
|
NM_001352514.2(HLCS):c.2291T>A (p.Ile764Asn)
|
rs2145731806
|
|
NM_001352514.2(HLCS):c.2330C>T (p.Pro777Leu)
|
|
|
NM_001352514.2(HLCS):c.2347C>G (p.Leu783Val)
|
|
|
NM_001352514.2(HLCS):c.2360T>C (p.Val787Ala)
|
|
|
NM_001352514.2(HLCS):c.2368G>A (p.Val790Met)
|
|
|
NM_001352514.2(HLCS):c.2413A>G (p.Ser805Gly)
|
rs755620019
|
|
NM_001352514.2(HLCS):c.2418C>T (p.Val806=)
|
rs759416272
|
|
NM_001352514.2(HLCS):c.2450+1_2450+2del
|
rs2089602804
|
|
NM_001352514.2(HLCS):c.2450+4A>G
|
|
|
NM_001352514.2(HLCS):c.2460A>C (p.Gln820His)
|
|
|
NM_001352514.2(HLCS):c.2476G>T (p.Ala826Ser)
|
rs376898721
|
|
NM_001352514.2(HLCS):c.2495C>T (p.Ser832Phe)
|
|
|
NM_001352514.2(HLCS):c.2501T>C (p.Val834Ala)
|
rs2123556320
|
|
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup)
|
rs773191073
|
|
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)
|
rs767700692
|
|
NM_001352514.2(HLCS):c.2551G>A (p.Val851Ile)
|
|
|
NM_001352514.2(HLCS):c.2567del (p.Pro856fs)
|
rs1555880930
|
|
NM_001352514.2(HLCS):c.2572G>A (p.Gly858Ser)
|
|
|
NM_001352514.2(HLCS):c.2581T>G (p.Phe861Val)
|
|
|
NM_001352514.2(HLCS):c.2587_2588del (p.Met863fs)
|
rs1555880894
|
|
NM_001352514.2(HLCS):c.2600del (p.Leu867fs)
|
rs761447836
|
|
NM_001352514.2(HLCS):c.2605C>T (p.Leu869Phe)
|
|
|
NM_001352514.2(HLCS):c.2611_2614del (p.Lys871fs)
|
rs774356408
|
|
NM_001352514.2(HLCS):c.2614C>T (p.Arg872Trp)
|
|
|
NM_001352514.2(HLCS):c.2618G>A (p.Arg873Gln)
|
|
|
NM_001352514.2(HLCS):c.442A>C (p.Met148Leu)
|
rs764841449
|
|
NM_001352514.2(HLCS):c.449A>G (p.Asp150Gly)
|
rs761490181
|
|
NM_001352514.2(HLCS):c.458A>G (p.His153Arg)
|
|
|
NM_001352514.2(HLCS):c.460A>G (p.Met154Val)
|
|
|
NM_001352514.2(HLCS):c.463G>A (p.Asp155Asn)
|
|
|
NM_001352514.2(HLCS):c.481C>G (p.Gln161Glu)
|
|
|
NM_001352514.2(HLCS):c.485A>C (p.Lys162Thr)
|
|
|
NM_001352514.2(HLCS):c.489T>G (p.Ile163Met)
|
rs886057079
|
|
NM_001352514.2(HLCS):c.491T>C (p.Val164Ala)
|
rs2146535803
|
|
NM_001352514.2(HLCS):c.493+9C>A
|
rs886057078
|
|
NM_001352514.2(HLCS):c.494-25TC[4]
|
rs146532042
|
|
NM_001352514.2(HLCS):c.495G>A (p.Ser165=)
|
rs1254077652
|
|
NM_001352514.2(HLCS):c.497T>C (p.Val166Ala)
|
|
|
NM_001352514.2(HLCS):c.503T>G (p.Leu168Trp)
|
|
|
NM_001352514.2(HLCS):c.504G>T (p.Leu168Phe)
|
|
|
NM_001352514.2(HLCS):c.526G>C (p.Val176Leu)
|
|
|
NM_001352514.2(HLCS):c.581C>T (p.Pro194Leu)
|
rs565756796
|
|
NM_001352514.2(HLCS):c.586C>T (p.Leu196Phe)
|
|
|
NM_001352514.2(HLCS):c.599C>T (p.Pro200Leu)
|
|
|
NM_001352514.2(HLCS):c.652G>A (p.Glu218Lys)
|
rs2066934793
|
|
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys)
|
rs765150200
|
|
NM_001352514.2(HLCS):c.767G>T (p.Cys256Phe)
|
rs2066926744
|
|
NM_001352514.2(HLCS):c.809C>T (p.Ala270Val)
|
|
|
NM_001352514.2(HLCS):c.832C>T (p.Leu278Phe)
|
|
|
NM_001352514.2(HLCS):c.853A>G (p.Ser285Gly)
|
|
|
NM_001352514.2(HLCS):c.908A>T (p.Asn303Ile)
|
rs912685138
|
|
NM_001352514.2(HLCS):c.909C>A (p.Asn303Lys)
|
|
|
NM_001352514.2(HLCS):c.919A>G (p.Lys307Glu)
|
|
|
NM_001352514.2(HLCS):c.941A>C (p.Tyr314Ser)
|
rs778638155
|
|
NM_001352514.2(HLCS):c.946G>T (p.Gly316Cys)
|
|
|
NM_001352514.2(HLCS):c.952G>A (p.Asp318Asn)
|
|
|
NM_001352514.2(HLCS):c.989G>C (p.Arg330Pro)
|
rs368754318
|
|
NM_001354735.1(PFKM):c.53G>T (p.Arg18Leu)
|
rs193298317
|
|
NM_001358263.1(HK1):c.75+20336T>A
|
rs769395943
|
|
NM_001360016.2(G6PD):c.*357G>A
|
|
|
NM_001360016.2(G6PD):c.1016C>T (p.Ala339Val)
|
|
|
NM_001360016.2(G6PD):c.1051+15C>A
|
rs2070358006
|
|
NM_001360016.2(G6PD):c.1072T>G (p.Cys358Gly)
|
|
|
NM_001360016.2(G6PD):c.1096A>G (p.Lys366Glu)
|
rs1057518975
|
|
NM_001360016.2(G6PD):c.1104G>C (p.Glu368Asp)
|
rs1421656710
|
|
NM_001360016.2(G6PD):c.1132G>A (p.Gly378Ser)
|
|
|
NM_001360016.2(G6PD):c.1146C>G (p.His382Gln)
|
|
|
NM_001360016.2(G6PD):c.1187C>T (p.Pro396Leu)
|
rs1557229683
|
|
NM_001360016.2(G6PD):c.1243C>T (p.Pro415Ser)
|
rs1603411292
|
|
NM_001360016.2(G6PD):c.1277A>G (p.Asn426Ser)
|
|
|
NM_001360016.2(G6PD):c.1278C>G (p.Asn426Lys)
|
rs1557229652
|
|
NM_001360016.2(G6PD):c.1288-14TC[2]
|
rs199586268
|
|
NM_001360016.2(G6PD):c.1311= (p.Tyr437=)
|
rs2230037
|
|
NM_001360016.2(G6PD):c.1330G>A (p.Val444Ile)
|
|
|
NM_001360016.2(G6PD):c.1365C>T (p.Ser455=)
|
|
|
NM_001360016.2(G6PD):c.1396A>G (p.Thr466Ala)
|
|
|
NM_001360016.2(G6PD):c.1412A>C (p.Gln471Pro)
|
|
|
NM_001360016.2(G6PD):c.1420C>G (p.Leu474Val)
|
rs2148328385
|
|
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala)
|
rs202122673
|
|
NM_001360016.2(G6PD):c.1441C>T (p.Pro481Ser)
|
|
|
NM_001360016.2(G6PD):c.1457+37_1458-10dup
|
|
|
NM_001360016.2(G6PD):c.1487T>G (p.Met496Arg)
|
|
|
NM_001360016.2(G6PD):c.1496T>A (p.Val499Glu)
|
|
|
NM_001360016.2(G6PD):c.1517C>G (p.Thr506Ser)
|
|
|
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile)
|
rs2148332084
|
|
NM_001360016.2(G6PD):c.159-3C>T
|
|
|
NM_001360016.2(G6PD):c.169C>T (p.Arg57Trp)
|
|
|
NM_001360016.2(G6PD):c.193A>G (p.Thr65Ala)
|
rs199474830
|
|
NM_001360016.2(G6PD):c.196T>A (p.Phe66Ile)
|
rs2070404146
|
|
NM_001360016.2(G6PD):c.197T>A (p.Phe66Tyr)
|
|
|
NM_001360016.2(G6PD):c.221G>A (p.Arg74His)
|
|
|
NM_001360016.2(G6PD):c.227C>T (p.Thr76Ile)
|
rs2148331887
|
|
NM_001360016.2(G6PD):c.255G>A (p.Glu85=)
|
|
|
NM_001360016.2(G6PD):c.25C>T (p.Arg9Trp)
|
|
|
NM_001360016.2(G6PD):c.261C>T (p.Phe87=)
|
|
|
NM_001360016.2(G6PD):c.26G>A (p.Arg9Gln)
|
|
|
NM_001360016.2(G6PD):c.277G>A (p.Glu93Lys)
|
|
|
NM_001360016.2(G6PD):c.297G>A (p.Glu99=)
|
rs2070395767
|
|
NM_001360016.2(G6PD):c.310C>T (p.Arg104Cys)
|
|
|
NM_001360016.2(G6PD):c.314A>C (p.Asn105Thr)
|
|
|
NM_001360016.2(G6PD):c.317C>T (p.Ser106Phe)
|
|
|
NM_001360016.2(G6PD):c.332A>G (p.Gln111Arg)
|
|
|
NM_001360016.2(G6PD):c.346G>C (p.Ala116Pro)
|
|
|
NM_001360016.2(G6PD):c.347C>T (p.Ala116Val)
|
|
|
NM_001360016.2(G6PD):c.34G>A (p.Val12Met)
|
|
|
NM_001360016.2(G6PD):c.359G>T (p.Arg120Leu)
|
rs782820967
|
|
NM_001360016.2(G6PD):c.376A>T (p.Asn126Tyr)
|
rs1050829
|
|
NM_001360016.2(G6PD):c.41G>T (p.Gly14Val)
|
|
|
NM_001360016.2(G6PD):c.424T>G (p.Leu142Val)
|
|
|
NM_001360016.2(G6PD):c.433A>T (p.Thr145Ser)
|
|
|
NM_001360016.2(G6PD):c.445G>A (p.Ala149Thr)
|
|
|
NM_001360016.2(G6PD):c.472T>G (p.Cys158Gly)
|
|
|
NM_001360016.2(G6PD):c.485+3A>G
|
|
|
NM_001360016.2(G6PD):c.486-10C>T
|
|
|
NM_001360016.2(G6PD):c.486-34del
|
rs3216174
|
|
NM_001360016.2(G6PD):c.499A>T (p.Ile167Phe)
|
|
|
NM_001360016.2(G6PD):c.505G>A (p.Val169Met)
|
|
|
NM_001360016.2(G6PD):c.50G>A (p.Arg17Gln)
|
|
|
NM_001360016.2(G6PD):c.545G>A (p.Arg182Gln)
|
|
|
NM_001360016.2(G6PD):c.553A>C (p.Asn185His)
|
|
|
NM_001360016.2(G6PD):c.554A>G (p.Asn185Ser)
|
|
|
NM_001360016.2(G6PD):c.559A>G (p.Ile187Val)
|
|
|
NM_001360016.2(G6PD):c.575G>A (p.Arg192His)
|
|
|
NM_001360016.2(G6PD):c.584A>G (p.Gln195Arg)
|
|
|
NM_001360016.2(G6PD):c.595A>G (p.Ile199Val)
|
|
|
NM_001360016.2(G6PD):c.634A>G (p.Met212Val)
|
|
|
NM_001360016.2(G6PD):c.644+6G>A
|
|
|
NM_001360016.2(G6PD):c.645-3C>T
|
|
|
NM_001360016.2(G6PD):c.701T>C (p.Ile234Thr)
|
|
|
NM_001360016.2(G6PD):c.72T>A (p.Asp24Glu)
|
rs1557233192
|
|
NM_001360016.2(G6PD):c.73G>A (p.Ala25Thr)
|
|
|
NM_001360016.2(G6PD):c.73G>T (p.Ala25Ser)
|
|
|
NM_001360016.2(G6PD):c.769C>G (p.Arg257Gly)
|
rs2070375134
|
|
NM_001360016.2(G6PD):c.77T>C (p.Phe26Ser)
|
|
|
NM_001360016.2(G6PD):c.79C>T (p.His27Tyr)
|
|
|
NM_001360016.2(G6PD):c.829G>T (p.Ala277Ser)
|
rs1557230050
|
|
NM_001360016.2(G6PD):c.84G>T (p.Gln28His)
|
|
|
NM_001360016.2(G6PD):c.857A>G (p.Asp286Gly)
|
rs2148329856
|
|
NM_001360016.2(G6PD):c.859G>A (p.Glu287Lys)
|
rs387906471
|
|
NM_001360016.2(G6PD):c.88G>A (p.Asp30Asn)
|
|
|
NM_001360016.2(G6PD):c.88G>T (p.Asp30Tyr)
|
rs367607992
|
|
NM_001360016.2(G6PD):c.909_911del (p.Val304del)
|
|
|
NM_001360016.2(G6PD):c.937G>A (p.Asp313Asn)
|
|
|
NM_001360016.2(G6PD):c.945G>C (p.Glu315Asp)
|
rs2148329357
|
|
NM_001360016.2(G6PD):c.947G>A (p.Gly316Asp)
|
|
|
NM_001360016.2(G6PD):c.971A>G (p.Asp324Gly)
|
|
|
NM_001360016.2(G6PD):c.988C>T (p.Arg330Cys)
|
|
|
NM_001360016.2(G6PD):c.989G>A (p.Arg330His)
|
|
|
NM_001360016.2(G6PD):c.[202G>A;376A>G563C>T]
|
|
|
NM_001360016.2(G6PD):c.[202G>A;563C>T]
|
|
|
NM_001360016.2(G6PD):c.[311G>A;376A>G]
|
|
|
NM_001360016.2(G6PD):c.[376A>G;563C>T]
|
|
|
NM_001363700.2(LIAS):c.299+1682_299+1690del
|
rs776064587
|
|
NM_001365304.2(LOC112694756):c.*1049+3G>A
|
rs2072219927
|
|
NM_001365304.2(LOC112694756):c.*1309-2dup
|
|
|
NM_001365304.2(LOC112694756):c.*622-9C>G
|
|
|
NM_001365304.2(LOC112694756):c.*888+17del
|
rs886051891
|
|
NM_001365304.2(LOC112694756):c.*889-3T>C
|
|
|
NM_001366110.1(PAX4):c.*474_*477dup
|
rs1554403669
|
|
NM_001366110.1(PAX4):c.*492_*497del
|
rs886061966
|
|
NM_001366110.1(PAX4):c.*494AC[11]
|
rs36159526
|
|
NM_001366110.1(PAX4):c.*494AC[13]
|
rs36159526
|
|
NM_001366110.1(PAX4):c.*494AC[14]
|
rs36159526
|
|
NM_001366110.1(PAX4):c.*514_*521delinsTGAT
|
rs886061965
|
|
NM_001366110.1(PAX4):c.*518_*521delinsACACTGAT
|
rs886061964
|
|
NM_001366110.1(PAX4):c.*66C>T
|
rs886061967
|
|
NM_001366110.1(PAX4):c.*722T>C
|
rs759186282
|
|
NM_001366110.1(PAX4):c.-101_-100+2del
|
|
|
NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys)
|
rs112061448
|
|
NM_001366110.1(PAX4):c.225C>G (p.Ser75Arg)
|
|
|
NM_001366110.1(PAX4):c.403C>G (p.Gln135Glu)
|
rs886061969
|
|
NM_001366110.1(PAX4):c.454G>A (p.Val152Ile)
|
|
|
NM_001366110.1(PAX4):c.539G>A (p.Ser180Asn)
|
rs1554404073
|
|
NM_001366110.1(PAX4):c.574_588del (p.Gly192_Asp196del)
|
|
|
NM_001366110.1(PAX4):c.677G>A (p.Arg226His)
|
|
|
NM_001366110.1(PAX4):c.772-13dup
|
rs35434068
|
|
NM_001366110.1(PAX4):c.772-3del
|
rs35434068
|
|
NM_001366110.1(PAX4):c.779dup (p.Gly261fs)
|
rs536677108
|
|
NM_001366110.1(PAX4):c.904C>A (p.Pro302Thr)
|
rs886061968
|
|
NM_001367225.1(CA5A):c.899A>G (p.His300Arg)
|
|
|
NM_001370658.1(BTD):c.*159G>A
|
rs530872564
|
|
NM_001370658.1(BTD):c.-16-2A>G
|
|
|
NM_001370658.1(BTD):c.-17+19_-17+39del
|
rs1559571027
|
|
NM_001370658.1(BTD):c.-18A>G
|
|
|
NM_001370658.1(BTD):c.-45A>T
|
rs540641302
|
|
NM_001370658.1(BTD):c.-51G>T
|
|
|
NM_001370658.1(BTD):c.-58G>A
|
rs1553646827
|
|
NM_001370658.1(BTD):c.-59T>C
|
rs768258310
|
|
NM_001370658.1(BTD):c.-60A>G
|
rs1553646820
|
|
NM_001370658.1(BTD):c.1001C>T (p.Thr334Met)
|
|
|
NM_001370658.1(BTD):c.1068G>C (p.Gln356His)
|
|
|
NM_001370658.1(BTD):c.1076A>G (p.His359Arg)
|
rs763540316
|
|
NM_001370658.1(BTD):c.1102G>A (p.Val368Met)
|
|
|
NM_001370658.1(BTD):c.1110TCC[1] (p.Pro372del)
|
|
|
NM_001370658.1(BTD):c.1114C>T (p.Pro372Ser)
|
rs886058116
|
|
NM_001370658.1(BTD):c.1116_1118del (p.Thr373del)
|
rs2065654912
|
|
NM_001370658.1(BTD):c.1135A>T (p.Met379Leu)
|
rs1295528438
|
|
NM_001370658.1(BTD):c.113A>G (p.Tyr38Cys)
|
|
|
NM_001370658.1(BTD):c.1163T>C (p.Val388Ala)
|
rs1553654038
|
|
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser)
|
rs374141881
|
|
NM_001370658.1(BTD):c.1177G>C (p.Gly393Arg)
|
|
|
NM_001370658.1(BTD):c.1190_1191delinsAG (p.Val397Glu)
|
rs2125504798
|
|
NM_001370658.1(BTD):c.1192T>C (p.Cys398Arg)
|
rs397514408
|
|
NM_001370658.1(BTD):c.1199A>G (p.Asn400Ser)
|
|
|
NM_001370658.1(BTD):c.1205T>C (p.Leu402Pro)
|
rs2125504955
|
|
NM_001370658.1(BTD):c.1226A>C (p.Glu409Ala)
|
rs2125505114
|
|
NM_001370658.1(BTD):c.1249C>G (p.Leu417Val)
|
rs1553654107
|
|
NM_001370658.1(BTD):c.1264G>A (p.Val422Ile)
|
rs776369447
|
|
NM_001370658.1(BTD):c.1268T>A (p.Phe423Tyr)
|
|
|
NM_001370658.1(BTD):c.1274G>A (p.Gly425Glu)
|
rs397514402
|
|
NM_001370658.1(BTD):c.1286T>C (p.Val429Ala)
|
rs2065663213
|
|
NM_001370658.1(BTD):c.1289A>C (p.His430Pro)
|
rs559136372
|
|
NM_001370658.1(BTD):c.1298A>C (p.Tyr433Ser)
|
rs2125505641
|
|
NM_001370658.1(BTD):c.1309G>T (p.Val437Leu)
|
rs146600671
|
|
NM_001370658.1(BTD):c.1325G>A (p.Arg442Lys)
|
rs2125505856
|
|
NM_001370658.1(BTD):c.1328G>A (p.Cys443Tyr)
|
rs397514421
|
|
NM_001370658.1(BTD):c.1346A>G (p.Asp449Gly)
|
|
|
NM_001370658.1(BTD):c.1376C>T (p.Thr459Met)
|
|
|
NM_001370658.1(BTD):c.1421A>G (p.Tyr474Cys)
|
rs750598655
|
|
NM_001370658.1(BTD):c.1427T>C (p.Phe476Ser)
|
rs886058117
|
|
NM_001370658.1(BTD):c.1456C>A (p.Leu486Ile)
|
rs774018881
|
|
NM_001370658.1(BTD):c.1459G>A (p.Glu487Lys)
|
|
|
NM_001370658.1(BTD):c.1468G>A (p.Asp490Asn)
|
|
|
NM_001370658.1(BTD):c.1496A>G (p.Tyr499Cys)
|
rs199859507
|
|
NM_001370658.1(BTD):c.14G>T (p.Arg5Ile)
|
|
|
NM_001370658.1(BTD):c.1503del (p.Arg502fs)
|
rs1163419871
|
|
NM_001370658.1(BTD):c.1522T>C (p.Ser508Pro)
|
|
|
NM_001370658.1(BTD):c.1538C>T (p.Ala513Val)
|
|
|
NM_001370658.1(BTD):c.179A>C (p.Gln60Pro)
|
rs2065326975
|
|
NM_001370658.1(BTD):c.185C>T (p.Ala62Val)
|
rs397507171
|
|
NM_001370658.1(BTD):c.187_195del (p.Leu63_Leu65del)
|
rs397514346
|
|
NM_001370658.1(BTD):c.188T>C (p.Leu63Ser)
|
rs397514347
|
|
NM_001370658.1(BTD):c.195C>T (p.Leu65=)
|
rs2125454784
|
|
NM_001370658.1(BTD):c.239C>T (p.Ala80Val)
|
rs1553652171
|
|
NM_001370658.1(BTD):c.249+5G>T
|
rs2065329555
|
|
NM_001370658.1(BTD):c.251A>G (p.Asp84Gly)
|
|
|
NM_001370658.1(BTD):c.271C>G (p.Pro91Ala)
|
rs1553653070
|
|
NM_001370658.1(BTD):c.286C>T (p.His96Tyr)
|
rs776422082
|
|
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)
|
rs397514354
|
|
NM_001370658.1(BTD):c.33C>A (p.Phe11Leu)
|
|
|
NM_001370658.1(BTD):c.340T>C (p.Ser114Pro)
|
|
|
NM_001370658.1(BTD):c.347A>G (p.Gln116Arg)
|
|
|
NM_001370658.1(BTD):c.351_352delinsTT (p.Val118Phe)
|
|
|
NM_001370658.1(BTD):c.369C>G (p.Cys123Trp)
|
|
|
NM_001370658.1(BTD):c.373G>C (p.Glu125Gln)
|
|
|
NM_001370658.1(BTD):c.382C>G (p.Arg128Gly)
|
rs137877018
|
|
NM_001370658.1(BTD):c.416G>A (p.Ser139Asn)
|
rs144717999
|
|
NM_001370658.1(BTD):c.41_44del (p.Gly14fs)
|
rs1249246307
|
|
NM_001370658.1(BTD):c.423G>A (p.Met141Ile)
|
|
|
NM_001370658.1(BTD):c.444C>A (p.Phe148Leu)
|
rs184742694
|
|
NM_001370658.1(BTD):c.449T>C (p.Val150Ala)
|
|
|
NM_001370658.1(BTD):c.490C>T (p.Pro164Ser)
|
|
|
NM_001370658.1(BTD):c.494G>A (p.Arg165Lys)
|
|
|
NM_001370658.1(BTD):c.498C>G (p.Cys166Trp)
|
rs2125500615
|
|
NM_001370658.1(BTD):c.506A>G (p.Asp169Gly)
|
rs139829181
|
|
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu)
|
rs750363004
|
|
NM_001370658.1(BTD):c.545A>T (p.Asn182Ile)
|
rs397514376
|
|
NM_001370658.1(BTD):c.550G>A (p.Gly184Arg)
|
|
|
NM_001370658.1(BTD):c.557T>G (p.Leu186Arg)
|
|
|
NM_001370658.1(BTD):c.557TTG[1] (p.Val187del)
|
rs1553653699
|
|
NM_001370658.1(BTD):c.719A>C (p.Asp240Ala)
|
|
|
NM_001370658.1(BTD):c.721_723del (p.Tyr241del)
|
rs1553653835
|
|
NM_001370658.1(BTD):c.727G>T (p.Val243Leu)
|
|
|
NM_001370658.1(BTD):c.737T>A (p.Val246Asp)
|
|
|
NM_001370658.1(BTD):c.750_752delinsCTA (p.Ala251Tyr)
|
|
|
NM_001370658.1(BTD):c.765G>C (p.Gln255His)
|
|
|
NM_001370658.1(BTD):c.773T>C (p.Leu258Pro)
|
rs397514389
|
|
NM_001370658.1(BTD):c.784A>T (p.Ile262Phe)
|
rs549204682
|
|
NM_001370658.1(BTD):c.795G>C (p.Gln265His)
|
rs1553653855
|
|
NM_001370658.1(BTD):c.806C>T (p.Ala269Val)
|
rs1057520533
|
|
NM_001370658.1(BTD):c.817G>A (p.Gly273Ser)
|
rs762757117
|
|
NM_001370658.1(BTD):c.817G>C (p.Gly273Arg)
|
rs762757117
|
|
NM_001370658.1(BTD):c.825C>A (p.Asn275Lys)
|
|
|
NM_001370658.1(BTD):c.826G>A (p.Val276Ile)
|
|
|
NM_001370658.1(BTD):c.844C>T (p.His282Tyr)
|
rs398123142
|
|
NM_001370658.1(BTD):c.846C>G (p.His282Gln)
|
rs2125502649
|
|
NM_001370658.1(BTD):c.862A>C (p.Met288Leu)
|
rs757604137
|
|
NM_001370658.1(BTD):c.874G>A (p.Gly292Ser)
|
rs397514396
|
|
NM_001370658.1(BTD):c.881A>G (p.His294Arg)
|
rs1553653888
|
|
NM_001370658.1(BTD):c.886C>A (p.Pro296Thr)
|
rs1553653894
|
|
NM_001370658.1(BTD):c.928A>C (p.Ser310Arg)
|
|
|
NM_001370658.1(BTD):c.941T>A (p.Ile314Asn)
|
rs397514433
|
|
NM_001370658.1(BTD):c.962C>T (p.Pro321Leu)
|
|
|
NM_001370658.1(BTD):c.965T>C (p.Val322Ala)
|
|
|
NM_001370658.1(BTD):c.968G>T (p.Gly323Val)
|
|
|
NM_001370658.1(BTD):c.982G>A (p.Glu328Lys)
|
|
|
NM_001543.5(NDST1):c.2063G>A (p.Arg688Gln)
|
|
|
NM_001543.5(NDST1):c.2272G>A (p.Ala758Thr)
|
|
|
NM_001543.5(NDST1):c.2401A>T (p.Thr801Ser)
|
rs760333260
|
|
NM_001543.5(NDST1):c.2468G>C (p.Gly823Ala)
|
rs1755738807
|
|
NM_001543.5(NDST1):c.2623C>T (p.Arg875Ter)
|
|
|
NM_001543.5(NDST1):c.340G>T (p.Glu114Ter)
|
rs1085307082
|
|
NM_001543.5(NDST1):c.39C>G (p.His13Gln)
|
rs777877507
|
|
NM_001543.5(NDST1):c.985C>T (p.Arg329Cys)
|
|
|
NM_001715.2(BLK):c.*500G>T
|
rs767723868
|
|
NM_001715.2(BLK):c.-440G>A
|
rs554033678
|
|
NM_001715.2(BLK):c.-475A>C
|
rs886062589
|
|
NM_001715.3(BLK):c.*130G>T
|
rs576749814
|
|
NM_001715.3(BLK):c.*161C>G
|
rs886062597
|
|
NM_001715.3(BLK):c.*182del
|
rs570307048
|
|
NM_001715.3(BLK):c.*214C>T
|
rs1585428580
|
|
NM_001715.3(BLK):c.*271G>A
|
rs1343284509
|
|
NM_001715.3(BLK):c.*289G>A
|
rs886062599
|
|
NM_001715.3(BLK):c.*42A>G
|
rs759997593
|
|
NM_001715.3(BLK):c.-9T>C
|
rs886062594
|
|
NM_001715.3(BLK):c.1120T>G (p.Cys374Gly)
|
rs886062595
|
|
NM_001715.3(BLK):c.1171G>A (p.Ala391Thr)
|
|
|
NM_001715.3(BLK):c.1208C>T (p.Ala403Val)
|
rs139210041
|
|
NM_001715.3(BLK):c.129C>A (p.Val43=)
|
rs377568491
|
|
NM_001715.3(BLK):c.1370C>T (p.Pro457Leu)
|
|
|
NM_001715.3(BLK):c.1374C>T (p.Asp458=)
|
rs376977643
|
|
NM_001715.3(BLK):c.1393T>C (p.Tyr465His)
|
|
|
NM_001715.3(BLK):c.1411G>C (p.Glu471Gln)
|
rs1171913284
|
|
NM_001715.3(BLK):c.311G>T (p.Arg104Ile)
|
rs142298864
|
|
NM_001715.3(BLK):c.824C>T (p.Thr275Ile)
|
rs748444664
|
|
NM_001715.3(BLK):c.84C>A (p.Val28=)
|
rs1585387563
|
|
NM_001715.3(BLK):c.868G>T (p.Ala290Ser)
|
|
|
NM_001715.3(BLK):c.952G>A (p.Gly318Arg)
|
|
|
NM_001715.3(BLK):c.956G>T (p.Cys319Phe)
|
rs1563123027
|
|
NM_001739.2(CA5A):c.149C>A (p.Pro50Gln)
|
|
|
NM_001739.2(CA5A):c.185C>T (p.Thr62Ile)
|
|
|
NM_001739.2(CA5A):c.187C>T (p.Arg63Trp)
|
|
|
NM_001739.2(CA5A):c.283A>G (p.Ile95Val)
|
|
|
NM_001739.2(CA5A):c.298T>A (p.Tyr100Asn)
|
rs1295048155
|
|
NM_001739.2(CA5A):c.322G>A (p.Asp108Asn)
|
|
|
NM_001739.2(CA5A):c.376C>G (p.Leu126Val)
|
rs2143963929
|
|
NM_001739.2(CA5A):c.387T>G (p.Phe129Leu)
|
|
|
NM_001739.2(CA5A):c.404C>T (p.Ala135Val)
|
|
|
NM_001739.2(CA5A):c.497A>G (p.Asn166Ser)
|
|
|
NM_001739.2(CA5A):c.508G>T (p.Ala170Ser)
|
|
|
NM_001739.2(CA5A):c.512T>C (p.Val171Ala)
|
rs2143950598
|
|
NM_001739.2(CA5A):c.514G>A (p.Val172Met)
|
|
|
NM_001739.2(CA5A):c.514G>T (p.Val172Leu)
|
rs142182110
|
|
NM_001739.2(CA5A):c.523A>G (p.Asn175Asp)
|
|
|
NM_001739.2(CA5A):c.556C>G (p.Leu186Val)
|
rs375321548
|
|
NM_001739.2(CA5A):c.595A>T (p.Ile199Phe)
|
rs769123644
|
|
NM_001739.2(CA5A):c.601C>A (p.Pro201Thr)
|
|
|
NM_001739.2(CA5A):c.636G>A (p.Met212Ile)
|
|
|
NM_001739.2(CA5A):c.643T>A (p.Phe215Ile)
|
|
|
NM_001739.2(CA5A):c.646G>A (p.Asp216Asn)
|
rs370816330
|
|
NM_001739.2(CA5A):c.647A>C (p.Asp216Ala)
|
|
|
NM_001739.2(CA5A):c.664C>T (p.Pro222Ser)
|
|
|
NM_001739.2(CA5A):c.676G>A (p.Asp226Asn)
|
rs1280675833
|
|
NM_001739.2(CA5A):c.710C>T (p.Pro237Leu)
|
|
|
NM_001739.2(CA5A):c.734G>A (p.Trp245Ter)
|
|
|
NM_001739.2(CA5A):c.744G>T (p.Gln248His)
|
rs1240080247
|
|
NM_001739.2(CA5A):c.767_774+13del
|
rs762768981
|
|
NM_001739.2(CA5A):c.774G>C (p.Gln258His)
|
|
|
NM_001739.2(CA5A):c.77G>A (p.Arg26His)
|
|
|
NM_001739.2(CA5A):c.782C>T (p.Ala261Val)
|
|
|
NM_001739.2(CA5A):c.787C>T (p.Arg263Cys)
|
|
|
NM_001739.2(CA5A):c.83T>A (p.Met28Lys)
|
|
|
NM_001739.2(CA5A):c.847_848delinsGA (p.Pro283Glu)
|
rs2143888447
|
|
NM_001739.2(CA5A):c.868C>T (p.Arg290Trp)
|
|
|
NM_001739.2(CA5A):c.89C>G (p.Pro30Arg)
|
rs533233634
|
|
NM_001739.2(CA5A):c.917A>G (p.Ter306Trp)
|
|
|
NM_001807.6(CEL):c.1410_1411delinsACTC (p.Thr471fs)
|
|
|
NM_001807.6(CEL):c.1427A>G (p.Gln476Arg)
|
|
|
NM_001807.6(CEL):c.1673_1684delinsGTTCCATGCCCT (p.Thr558_Pro562delinsSerSerMetProSer)
|
rs2119070291
|
|
NM_001807.6(CEL):c.2029G>T (p.Gly677Trp)
|
rs984492184
|
|
NM_001807.6(CEL):c.203A>T (p.His68Leu)
|
|
|
NM_001807.6(CEL):c.2123A>T (p.Asp708Val)
|
|
|
NM_001807.6(CEL):c.277A>C (p.Ser93Arg)
|
|
|
NM_001807.6(CEL):c.337C>T (p.Gln113Ter)
|
rs1200339761
|
|
NM_001807.6(CEL):c.341-83C>T
|
|
|
NM_001807.6(CEL):c.472G>A (p.Val158Met)
|
|
|
NM_001807.6(CEL):c.497del (p.Gly166fs)
|
|
|
NM_001807.6(CEL):c.526G>A (p.Ala176Thr)
|
|
|
NM_001807.6(CEL):c.718A>G (p.Ser240Gly)
|
|
|
NM_001931.5(DLAT):c.1016C>T (p.Thr339Ile)
|
|
|
NM_001931.5(DLAT):c.1040C>G (p.Thr347Ser)
|
rs982032675
|
|
NM_001931.5(DLAT):c.1130-6T>G
|
|
|
NM_001931.5(DLAT):c.1171_1172delinsAT (p.Ser391Ile)
|
|
|
NM_001931.5(DLAT):c.1253G>A (p.Gly418Asp)
|
|
|
NM_001931.5(DLAT):c.1290+5G>A
|
rs886047694
|
|
NM_001931.5(DLAT):c.1290G>A (p.Arg430=)
|
rs782283884
|
|
NM_001931.5(DLAT):c.1310T>G (p.Met437Arg)
|
rs1863289848
|
|
NM_001931.5(DLAT):c.1374G>T (p.Leu458Phe)
|
rs147264946
|
|
NM_001931.5(DLAT):c.1378G>T (p.Val460Leu)
|
|
|
NM_001931.5(DLAT):c.1384A>C (p.Lys462Gln)
|
rs1863296122
|
|
NM_001931.5(DLAT):c.146C>T (p.Thr49Ile)
|
|
|
NM_001931.5(DLAT):c.1501A>G (p.Thr501Ala)
|
|
|
NM_001931.5(DLAT):c.1514A>G (p.Gln505Arg)
|
rs1863619150
|
|
NM_001931.5(DLAT):c.1567A>G (p.Thr523Ala)
|
rs2135156193
|
|
NM_001931.5(DLAT):c.1591A>G (p.Ile531Val)
|
|
|
NM_001931.5(DLAT):c.167G>C (p.Arg56Pro)
|
rs782260343
|
|
NM_001931.5(DLAT):c.169G>T (p.Ala57Ser)
|
|
|
NM_001931.5(DLAT):c.1703T>C (p.Leu568Ser)
|
rs1566642089
|
|
NM_001931.5(DLAT):c.1712T>C (p.Phe571Ser)
|
rs782810132
|
|
NM_001931.5(DLAT):c.1771G>T (p.Gly591Cys)
|
|
|
NM_001931.5(DLAT):c.1784A>G (p.Asp595Gly)
|
|
|
NM_001931.5(DLAT):c.1806_1808dup (p.Asn602_Glu603insAsp)
|
rs1864595330
|
|
NM_001931.5(DLAT):c.1823T>A (p.Val608Glu)
|
|
|
NM_001931.5(DLAT):c.1867G>C (p.Val623Leu)
|
|
|
NM_001931.5(DLAT):c.188C>T (p.Pro63Leu)
|
|
|
NM_001931.5(DLAT):c.253T>C (p.Tyr85His)
|
rs782202863
|
|
NM_001931.5(DLAT):c.253T>G (p.Tyr85Asp)
|
|
|
NM_001931.5(DLAT):c.265C>A (p.Pro89Thr)
|
|
|
NM_001931.5(DLAT):c.355A>G (p.Ile119Val)
|
rs1555179245
|
|
NM_001931.5(DLAT):c.367G>T (p.Asp123Tyr)
|
rs1555179247
|
|
NM_001931.5(DLAT):c.396dup (p.Ala133fs)
|
rs782173047
|
|
NM_001931.5(DLAT):c.436G>A (p.Ala146Thr)
|
rs1201600211
|
|
NM_001931.5(DLAT):c.478G>A (p.Gly160Arg)
|
|
|
NM_001931.5(DLAT):c.482C>T (p.Ala161Val)
|
|
|
NM_001931.5(DLAT):c.561_584dup (p.Pro197_Ala198insGlnAlaAlaProAlaProThrPro)
|
|
|
NM_001931.5(DLAT):c.563C>A (p.Thr188Asn)
|
|
|
NM_001931.5(DLAT):c.577C>G (p.Pro193Ala)
|
rs2137699929
|
|
NM_001931.5(DLAT):c.592G>A (p.Ala198Thr)
|
|
|
NM_001931.5(DLAT):c.605C>T (p.Ser202Leu)
|
|
|
NM_001931.5(DLAT):c.629C>T (p.Ala210Val)
|
|
|
NM_001931.5(DLAT):c.635G>A (p.Gly212Asp)
|
|
|
NM_001931.5(DLAT):c.856C>G (p.Leu286Val)
|
|
|
NM_001931.5(DLAT):c.887A>G (p.Lys296Arg)
|
rs2137753489
|
|
NM_001931.5(DLAT):c.895G>T (p.Asp299Tyr)
|
rs1862828399
|
|
NM_001931.5(DLAT):c.900A>G (p.Ile300Met)
|
|
|
NM_001931.5(DLAT):c.934A>G (p.Thr312Ala)
|
|
|
NM_001931.5(DLAT):c.956C>T (p.Pro319Leu)
|
rs1862832629
|
|
NM_001931.5(DLAT):c.960_971del (p.Thr322_Pro325del)
|
|
|
NM_001931.5(DLAT):c.975+4G>A
|
|
|
NM_001931.5(DLAT):c.982G>A (p.Ala328Thr)
|
rs1862931114
|
|
NM_001931.5(DLAT):c.98G>A (p.Arg33Gln)
|
rs2137674476
|
|
NM_002076.3(GNS):c.-168dupC
|
rs145477737
|
|
NM_002076.4(GNS):c.*1580A>G
|
rs886049764
|
|
NM_002076.4(GNS):c.*1809T>C
|
rs1868815358
|
|
NM_002076.4(GNS):c.*1977A>G
|
rs1868809897
|
|
NM_002076.4(GNS):c.*2146G>A
|
rs900823217
|
|
NM_002076.4(GNS):c.*2406A>G
|
rs1868795917
|
|
NM_002076.4(GNS):c.*2489T>C
|
rs529418480
|
|
NM_002076.4(GNS):c.*2787del
|
rs886049760
|
|
NM_002076.4(GNS):c.*37G>T
|
rs142001509
|
|
NM_002076.4(GNS):c.*574G>A
|
rs886049770
|
|
NM_002076.4(GNS):c.*699G>C
|
rs1868848563
|
|
NM_002076.4(GNS):c.*734A>G
|
rs886049768
|
|
NM_002076.4(GNS):c.*846C>T
|
rs886049765
|
|
NM_002076.4(GNS):c.-120A>G
|
rs778270030
|
|
NM_002076.4(GNS):c.-39TCCCG[4]
|
rs559286032
|
|
NM_002076.4(GNS):c.1008G>C (p.Leu336Phe)
|
|
|
NM_002076.4(GNS):c.1024C>G (p.Gln342Glu)
|
|
|
NM_002076.4(GNS):c.1048G>A (p.Val350Ile)
|
|
|
NM_002076.4(GNS):c.1064G>T (p.Arg355Leu)
|
rs751200375
|
|
NM_002076.4(GNS):c.1070C>T (p.Pro357Leu)
|
|
|
NM_002076.4(GNS):c.1078A>G (p.Lys360Glu)
|
|
|
NM_002076.4(GNS):c.1082C>T (p.Pro361Leu)
|
|
|
NM_002076.4(GNS):c.1091C>T (p.Thr364Ile)
|
|
|
NM_002076.4(GNS):c.1098+3A>G
|
|
|
NM_002076.4(GNS):c.109G>C (p.Val37Leu)
|
|
|
NM_002076.4(GNS):c.1105G>A (p.Val369Ile)
|
|
|
NM_002076.4(GNS):c.1114A>C (p.Ile372Leu)
|
rs2136240576
|
|
NM_002076.4(GNS):c.1120T>A (p.Leu374Met)
|
|
|
NM_002076.4(GNS):c.1127C>G (p.Pro376Arg)
|
|
|
NM_002076.4(GNS):c.1146T>A (p.Ala382=)
|
rs2136240550
|
|
NM_002076.4(GNS):c.115G>A (p.Gly39Arg)
|
|
|
NM_002076.4(GNS):c.1160A>G (p.Asn387Ser)
|
|
|
NM_002076.4(GNS):c.1161T>G (p.Asn387Lys)
|
rs2136240532
|
|
NM_002076.4(GNS):c.1166C>T (p.Thr389Ile)
|
rs944030718
|
|
NM_002076.4(GNS):c.1200+5_1200+7del
|
rs2136240506
|
|
NM_002076.4(GNS):c.1201A>G (p.Arg401Gly)
|
|
|
NM_002076.4(GNS):c.1229C>T (p.Ser410Leu)
|
|
|
NM_002076.4(GNS):c.1231G>C (p.Asp411His)
|
|
|
NM_002076.4(GNS):c.1232A>C (p.Asp411Ala)
|
|
|
NM_002076.4(GNS):c.1234G>A (p.Val412Ile)
|
|
|
NM_002076.4(GNS):c.1264A>G (p.Asn422Asp)
|
|
|
NM_002076.4(GNS):c.1267G>A (p.Val423Ile)
|
|
|
NM_002076.4(GNS):c.1309-6C>G
|
rs1592491918
|
|
NM_002076.4(GNS):c.1309-8C>A
|
|
|
NM_002076.4(GNS):c.1309-9T>C
|
rs1869033080
|
|
NM_002076.4(GNS):c.1311A>G (p.Gln437=)
|
|
|
NM_002076.4(GNS):c.1323C>G (p.Asp441Glu)
|
|
|
NM_002076.4(GNS):c.1325G>A (p.Cys442Tyr)
|
|
|
NM_002076.4(GNS):c.1327G>A (p.Val443Ile)
|
|
|
NM_002076.4(GNS):c.1370C>T (p.Thr457Ile)
|
rs2136237284
|
|
NM_002076.4(GNS):c.1375T>G (p.Ser459Ala)
|
|
|
NM_002076.4(GNS):c.138G>T (p.Arg46Ser)
|
|
|
NM_002076.4(GNS):c.140C>T (p.Pro47Leu)
|
|
|
NM_002076.4(GNS):c.1424T>C (p.Phe475Ser)
|
|
|
NM_002076.4(GNS):c.142A>C (p.Asn48His)
|
|
|
NM_002076.4(GNS):c.1433T>G (p.Val478Gly)
|
|
|
NM_002076.4(GNS):c.1448C>A (p.Ala483Glu)
|
rs1163229693
|
|
NM_002076.4(GNS):c.145G>C (p.Val49Leu)
|
|
|
NM_002076.4(GNS):c.1471A>G (p.Ile491Val)
|
|
|
NM_002076.4(GNS):c.1516C>T (p.Arg506Trp)
|
|
|
NM_002076.4(GNS):c.1535C>T (p.Ser512Phe)
|
|
|
NM_002076.4(GNS):c.1537T>G (p.Cys513Gly)
|
|
|
NM_002076.4(GNS):c.1554T>A (p.Cys518Ter)
|
|
|
NM_002076.4(GNS):c.1555C>T (p.Arg519Cys)
|
|
|
NM_002076.4(GNS):c.1556G>A (p.Arg519His)
|
|
|
NM_002076.4(GNS):c.1571T>C (p.Phe524Ser)
|
|
|
NM_002076.4(GNS):c.1581-1G>A
|
rs1868873740
|
|
NM_002076.4(GNS):c.1585A>G (p.Arg529Gly)
|
|
|
NM_002076.4(GNS):c.1594C>T (p.Pro532Ser)
|
|
|
NM_002076.4(GNS):c.1600C>T (p.Leu534Phe)
|
|
|
NM_002076.4(GNS):c.1609A>C (p.Ser537Arg)
|
rs776925981
|
|
NM_002076.4(GNS):c.1609A>G (p.Ser537Gly)
|
|
|
NM_002076.4(GNS):c.1621A>G (p.Ser541Gly)
|
|
|
NM_002076.4(GNS):c.1627A>G (p.Arg543Gly)
|
rs763232728
|
|
NM_002076.4(GNS):c.1633C>T (p.Arg545Ter)
|
|
|
NM_002076.4(GNS):c.1652T>C (p.Leu551Pro)
|
|
|
NM_002076.4(GNS):c.16C>G (p.Leu6Val)
|
rs746189087
|
|
NM_002076.4(GNS):c.181C>T (p.Leu61Phe)
|
|
|
NM_002076.4(GNS):c.187G>T (p.Gly63Cys)
|
|
|
NM_002076.4(GNS):c.215C>G (p.Ala72Gly)
|
|
|
NM_002076.4(GNS):c.222C>G (p.Ile74Met)
|
|
|
NM_002076.4(GNS):c.227A>G (p.Glu76Gly)
|
|
|
NM_002076.4(GNS):c.229A>G (p.Met77Val)
|
rs763723151
|
|
NM_002076.4(GNS):c.254A>G (p.Tyr85Cys)
|
|
|
NM_002076.4(GNS):c.285A>T (p.Arg95Ser)
|
|
|
NM_002076.4(GNS):c.322C>T (p.His108Tyr)
|
|
|
NM_002076.4(GNS):c.333C>G (p.Asn111Lys)
|
|
|
NM_002076.4(GNS):c.34C>T (p.Arg12Trp)
|
|
|
NM_002076.4(GNS):c.359G>A (p.Ser120Asn)
|
|
|
NM_002076.4(GNS):c.35G>A (p.Arg12Gln)
|
|
|
NM_002076.4(GNS):c.361A>G (p.Lys121Glu)
|
|
|
NM_002076.4(GNS):c.365C>G (p.Ser122Cys)
|
|
|
NM_002076.4(GNS):c.386C>G (p.Pro129Arg)
|
|
|
NM_002076.4(GNS):c.389A>G (p.Asn130Ser)
|
|
|
NM_002076.4(GNS):c.391A>T (p.Thr131Ser)
|
|
|
NM_002076.4(GNS):c.400G>A (p.Ala134Thr)
|
|
|
NM_002076.4(GNS):c.430A>G (p.Thr144Ala)
|
rs2136249846
|
|
NM_002076.4(GNS):c.446A>G (p.Lys149Arg)
|
|
|
NM_002076.4(GNS):c.447A>C (p.Lys149Asn)
|
|
|
NM_002076.4(GNS):c.454A>G (p.Asn152Asp)
|
rs2136249836
|
|
NM_002076.4(GNS):c.472G>A (p.Asp158Asn)
|
|
|
NM_002076.4(GNS):c.493G>A (p.Val165Ile)
|
|
|
NM_002076.4(GNS):c.525G>A (p.Leu175=)
|
rs2136248840
|
|
NM_002076.4(GNS):c.554C>A (p.Thr185Asn)
|
|
|
NM_002076.4(GNS):c.587G>A (p.Gly196Asp)
|
|
|
NM_002076.4(GNS):c.596A>G (p.Tyr199Cys)
|
|
|
NM_002076.4(GNS):c.605A>G (p.Asp202Gly)
|
rs1439386150
|
|
NM_002076.4(GNS):c.605A>T (p.Asp202Val)
|
rs1439386150
|
|
NM_002076.4(GNS):c.640G>T (p.Asp214Tyr)
|
|
|
NM_002076.4(GNS):c.650A>G (p.Asp217Gly)
|
|
|
NM_002076.4(GNS):c.679A>C (p.Met227Leu)
|
rs901034074
|
|
NM_002076.4(GNS):c.694C>T (p.Pro232Ser)
|
|
|
NM_002076.4(GNS):c.698C>T (p.Ala233Val)
|
rs766044815
|
|
NM_002076.4(GNS):c.707C>T (p.Ser236Leu)
|
rs769055154
|
|
NM_002076.4(GNS):c.70C>G (p.Pro24Ala)
|
|
|
NM_002076.4(GNS):c.710C>T (p.Pro237Leu)
|
|
|
NM_002076.4(GNS):c.739G>A (p.Ala247Thr)
|
|
|
NM_002076.4(GNS):c.744C>G (p.Phe248Leu)
|
|
|
NM_002076.4(GNS):c.760C>A (p.Pro254Thr)
|
|
|
NM_002076.4(GNS):c.76C>G (p.Leu26Val)
|
|
|
NM_002076.4(GNS):c.770A>C (p.Lys257Thr)
|
|
|
NM_002076.4(GNS):c.779A>G (p.Asn260Ser)
|
rs2136247542
|
|
NM_002076.4(GNS):c.787G>C (p.Gly263Arg)
|
|
|
NM_002076.4(GNS):c.812G>A (p.Arg271Lys)
|
|
|
NM_002076.4(GNS):c.859A>G (p.Asn287Asp)
|
|
|
NM_002076.4(GNS):c.85C>G (p.Leu29Val)
|
|
|
NM_002076.4(GNS):c.882A>C (p.Gln294His)
|
|
|
NM_002076.4(GNS):c.896T>C (p.Val299Ala)
|
|
|
NM_002076.4(GNS):c.911A>G (p.Glu304Gly)
|
|
|
NM_002076.4(GNS):c.916C>A (p.Leu306Met)
|
|
|
NM_002076.4(GNS):c.916C>G (p.Leu306Val)
|
|
|
NM_002076.4(GNS):c.923A>G (p.Lys308Arg)
|
rs1168212943
|
|
NM_002076.4(GNS):c.926G>A (p.Arg309Lys)
|
|
|
NM_002076.4(GNS):c.939T>G (p.Thr313=)
|
rs1869657867
|
|
NM_002076.4(GNS):c.940G>A (p.Gly314Arg)
|
|
|
NM_002076.4(GNS):c.950A>G (p.Asn317Ser)
|
rs2136245502
|
|
NM_002076.4(GNS):c.961A>G (p.Ile321Val)
|
|
|
NM_002076.4(GNS):c.986A>G (p.Tyr329Cys)
|
rs1338188022
|
|
NM_002076.4(GNS):c.994+20A>G
|
|
|
NM_002076.4(GNS):c.995-9T>A
|
rs2136244474
|
|
NM_002103.5(GYS1):c.*1113_*1116del
|
rs148396922
|
|
NM_002103.5(GYS1):c.*143C>G
|
rs995248958
|
|
NM_002103.5(GYS1):c.*26G>A
|
rs886054567
|
|
NM_002103.5(GYS1):c.*465G>A
|
rs2038501511
|
|
NM_002103.5(GYS1):c.*59A>T
|
rs973667510
|
|
NM_002103.5(GYS1):c.-157C>T
|
rs748554746
|
|
NM_002103.5(GYS1):c.-172T>C
|
rs886054574
|
|
NM_002103.5(GYS1):c.-195T>A
|
rs2038974225
|
|
NM_002103.5(GYS1):c.1007A>G (p.Asn336Ser)
|
|
|
NM_002103.5(GYS1):c.1015G>T (p.Ala339Ser)
|
rs2038777847
|
|
NM_002103.5(GYS1):c.1018G>A (p.Asp340Asn)
|
|
|
NM_002103.5(GYS1):c.1020C>A (p.Asp340Glu)
|
rs13306415
|
|
NM_002103.5(GYS1):c.1046T>C (p.Leu349Pro)
|
|
|
NM_002103.5(GYS1):c.1072A>G (p.Ser358Gly)
|
|
|
NM_002103.5(GYS1):c.1077_1078delinsAA (p.Gln360Lys)
|
rs2038765010
|
|
NM_002103.5(GYS1):c.1085T>C (p.Val362Ala)
|
|
|
NM_002103.5(GYS1):c.1087G>A (p.Val363Ile)
|
rs1309992388
|
|
NM_002103.5(GYS1):c.1127A>G (p.Asn376Ser)
|
rs2038763501
|
|
NM_002103.5(GYS1):c.1142A>C (p.Lys381Thr)
|
rs1363049243
|
|
NM_002103.5(GYS1):c.1144G>A (p.Gly382Ser)
|
rs1172290122
|
|
NM_002103.5(GYS1):c.1145G>A (p.Gly382Asp)
|
rs886054571
|
|
NM_002103.5(GYS1):c.114C>G (p.Asn38Lys)
|
rs769788885
|
|
NM_002103.5(GYS1):c.1156C>T (p.Arg386Cys)
|
rs868354195
|
|
NM_002103.5(GYS1):c.1157G>A (p.Arg386His)
|
|
|
NM_002103.5(GYS1):c.1170-13C>T
|
rs886054570
|
|
NM_002103.5(GYS1):c.118+3_118+4delinsAG
|
|
|
NM_002103.5(GYS1):c.1190A>G (p.Lys397Arg)
|
rs1600138867
|
|
NM_002103.5(GYS1):c.1201G>A (p.Gly401Arg)
|
|
|
NM_002103.5(GYS1):c.1202G>A (p.Gly401Glu)
|
rs1056476850
|
|
NM_002103.5(GYS1):c.1255A>G (p.Met419Val)
|
|
|
NM_002103.5(GYS1):c.1278T>G (p.Thr426=)
|
rs2038685440
|
|
NM_002103.5(GYS1):c.1304C>T (p.Thr435Met)
|
|
|
NM_002103.5(GYS1):c.1315_1316delinsAA (p.Ser439Asn)
|
rs1600135048
|
|
NM_002103.5(GYS1):c.1324C>A (p.Pro442Thr)
|
rs142951866
|
|
NM_002103.5(GYS1):c.134C>T (p.Thr45Met)
|
rs1600154972
|
|
NM_002103.5(GYS1):c.1363C>A (p.Pro455Thr)
|
|
|
NM_002103.5(GYS1):c.1363C>T (p.Pro455Ser)
|
rs2038617042
|
|
NM_002103.5(GYS1):c.1377C>T (p.Thr459=)
|
rs2038616834
|
|
NM_002103.5(GYS1):c.1407T>A (p.Ser469Arg)
|
rs556352989
|
|
NM_002103.5(GYS1):c.1411G>A (p.Asp471Asn)
|
|
|
NM_002103.5(GYS1):c.1412A>G (p.Asp471Gly)
|
rs1306162963
|
|
NM_002103.5(GYS1):c.1423-3C>T
|
|
|
NM_002103.5(GYS1):c.1432C>T (p.His478Tyr)
|
rs2038611813
|
|
NM_002103.5(GYS1):c.1452_1454del (p.Thr485del)
|
rs764928908
|
|
NM_002103.5(GYS1):c.1473G>A (p.Val491=)
|
rs2038611070
|
|
NM_002103.5(GYS1):c.14G>A (p.Arg5His)
|
|
|
NM_002103.5(GYS1):c.150G>C (p.Lys50Asn)
|
|
|
NM_002103.5(GYS1):c.1528G>A (p.Glu510Lys)
|
rs1400682175
|
|
NM_002103.5(GYS1):c.1568G>A (p.Gly523Glu)
|
rs2122462376
|
|
NM_002103.5(GYS1):c.1589A>G (p.Asn530Ser)
|
|
|
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys)
|
rs561646250
|
|
NM_002103.5(GYS1):c.1634C>T (p.Pro545Leu)
|
|
|
NM_002103.5(GYS1):c.1676G>A (p.Ser559Asn)
|
|
|
NM_002103.5(GYS1):c.1698G>A (p.Gln566=)
|
|
|
NM_002103.5(GYS1):c.169G>A (p.Glu57Lys)
|
|
|
NM_002103.5(GYS1):c.1744C>T (p.Arg582Cys)
|
rs770398662
|
|
NM_002103.5(GYS1):c.1763G>A (p.Arg588His)
|
|
|
NM_002103.5(GYS1):c.176G>A (p.Gly59Asp)
|
|
|
NM_002103.5(GYS1):c.1808G>C (p.Arg603Pro)
|
rs143040823
|
|
NM_002103.5(GYS1):c.1811A>G (p.Tyr604Cys)
|
|
|
NM_002103.5(GYS1):c.1814A>G (p.Tyr605Cys)
|
rs760423376
|
|
NM_002103.5(GYS1):c.1822G>A (p.Ala608Thr)
|
rs2038528076
|
|
NM_002103.5(GYS1):c.1823C>G (p.Ala608Gly)
|
rs767229493
|
|
NM_002103.5(GYS1):c.1825C>A (p.Arg609Ser)
|
rs957644060
|
|
NM_002103.5(GYS1):c.1826G>A (p.Arg609His)
|
|
|
NM_002103.5(GYS1):c.1835C>T (p.Ala612Val)
|
rs773394859
|
|
NM_002103.5(GYS1):c.1846G>T (p.Ala616Ser)
|
|
|
NM_002103.5(GYS1):c.1865C>T (p.Thr622Ile)
|
rs2038526450
|
|
NM_002103.5(GYS1):c.1882_1883delinsCT (p.Ala628Leu)
|
rs2122454338
|
|
NM_002103.5(GYS1):c.1890+1G>T
|
|
|
NM_002103.5(GYS1):c.1898G>T (p.Gly633Val)
|
rs764135201
|
|
NM_002103.5(GYS1):c.1909C>G (p.Pro637Ala)
|
rs1600128045
|
|
NM_002103.5(GYS1):c.1918G>T (p.Ala640Ser)
|
|
|
NM_002103.5(GYS1):c.1948C>T (p.Arg650Ter)
|
|
|
NM_002103.5(GYS1):c.1966C>T (p.Gln656Ter)
|
rs1199839572
|
|
NM_002103.5(GYS1):c.1985A>G (p.Asp662Gly)
|
rs2038519963
|
|
NM_002103.5(GYS1):c.1987C>T (p.Pro663Ser)
|
|
|
NM_002103.5(GYS1):c.1994A>G (p.Asn665Ser)
|
|
|
NM_002103.5(GYS1):c.1995C>A (p.Asn665Lys)
|
|
|
NM_002103.5(GYS1):c.1A>C (p.Met1Leu)
|
rs748334413
|
|
NM_002103.5(GYS1):c.2021G>A (p.Arg674His)
|
rs779582211
|
|
NM_002103.5(GYS1):c.2032G>A (p.Asp678Asn)
|
rs2038518151
|
|
NM_002103.5(GYS1):c.2044G>A (p.Ala682Thr)
|
rs1419163800
|
|
NM_002103.5(GYS1):c.2056C>T (p.Arg686Cys)
|
|
|
NM_002103.5(GYS1):c.2057G>A (p.Arg686His)
|
rs1049444314
|
|
NM_002103.5(GYS1):c.2077T>A (p.Trp693Arg)
|
|
|
NM_002103.5(GYS1):c.2081C>G (p.Pro694Arg)
|
|
|
NM_002103.5(GYS1):c.2084_2085del (p.Arg695fs)
|
rs2122451939
|
|
NM_002103.5(GYS1):c.2089G>C (p.Ala697Pro)
|
|
|
NM_002103.5(GYS1):c.2096G>T (p.Cys699Phe)
|
rs928549424
|
|
NM_002103.5(GYS1):c.20T>C (p.Leu7Ser)
|
rs1298302518
|
|
NM_002103.5(GYS1):c.2132T>A (p.Val711Glu)
|
rs893694315
|
|
NM_002103.5(GYS1):c.2138C>T (p.Thr713Met)
|
rs771678316
|
|
NM_002103.5(GYS1):c.214G>T (p.Gly72Cys)
|
rs759776076
|
|
NM_002103.5(GYS1):c.2165del (p.Pro722fs)
|
rs757063983
|
|
NM_002103.5(GYS1):c.2168G>A (p.Ser723Asn)
|
rs1468841188
|
|
NM_002103.5(GYS1):c.2169C>A (p.Ser723Arg)
|
|
|
NM_002103.5(GYS1):c.2170G>A (p.Glu724Lys)
|
rs1053724936
|
|
NM_002103.5(GYS1):c.2182C>T (p.Pro728Ser)
|
|
|
NM_002103.5(GYS1):c.2198G>A (p.Gly733Asp)
|
rs2122451107
|
|
NM_002103.5(GYS1):c.2207del (p.Arg736fs)
|
rs2038513000
|
|
NM_002103.5(GYS1):c.221G>C (p.Arg74Thr)
|
rs1600154718
|
|
NM_002103.5(GYS1):c.235C>T (p.Leu79=)
|
rs886054573
|
|
NM_002103.5(GYS1):c.27G>C (p.Met9Ile)
|
rs1568628315
|
|
NM_002103.5(GYS1):c.289A>G (p.Lys97Glu)
|
rs764543224
|
|
NM_002103.5(GYS1):c.300G>A (p.Lys100=)
|
rs886054572
|
|
NM_002103.5(GYS1):c.324C>G (p.Ile108Met)
|
rs5455
|
|
NM_002103.5(GYS1):c.334C>T (p.Pro112Ser)
|
|
|
NM_002103.5(GYS1):c.382C>T (p.Arg128Cys)
|
|
|
NM_002103.5(GYS1):c.38C>T (p.Pro13Leu)
|
rs2122550059
|
|
NM_002103.5(GYS1):c.3G>T (p.Met1Ile)
|
rs758161697
|
|
NM_002103.5(GYS1):c.40G>C (p.Gly14Arg)
|
rs753758690
|
|
NM_002103.5(GYS1):c.410G>A (p.Cys137Tyr)
|
rs2038856931
|
|
NM_002103.5(GYS1):c.417C>T (p.Ile139=)
|
rs758550328
|
|
NM_002103.5(GYS1):c.437G>A (p.Arg146His)
|
|
|
NM_002103.5(GYS1):c.448G>T (p.Asp150Tyr)
|
rs548135246
|
|
NM_002103.5(GYS1):c.457C>G (p.Leu153Val)
|
|
|
NM_002103.5(GYS1):c.488G>T (p.Gly163Val)
|
|
|
NM_002103.5(GYS1):c.495C>G (p.Phe165Leu)
|
|
|
NM_002103.5(GYS1):c.517C>G (p.Pro173Ala)
|
|
|
NM_002103.5(GYS1):c.524T>C (p.Val175Ala)
|
rs1432620791
|
|
NM_002103.5(GYS1):c.568C>G (p.Leu190Val)
|
rs1345491779
|
|
NM_002103.5(GYS1):c.56A>T (p.Glu19Val)
|
rs2122549955
|
|
NM_002103.5(GYS1):c.580C>T (p.Arg194Trp)
|
rs1455481597
|
|
NM_002103.5(GYS1):c.601A>G (p.Ile201Val)
|
|
|
NM_002103.5(GYS1):c.646G>A (p.Gly216Ser)
|
rs141601517
|
|
NM_002103.5(GYS1):c.647G>C (p.Gly216Ala)
|
rs2038835260
|
|
NM_002103.5(GYS1):c.650C>T (p.Ala217Val)
|
rs148365002
|
|
NM_002103.5(GYS1):c.652G>C (p.Val218Leu)
|
rs771977818
|
|
NM_002103.5(GYS1):c.661T>G (p.Tyr221Asp)
|
|
|
NM_002103.5(GYS1):c.666C>A (p.Asn222Lys)
|
rs201548356
|
|
NM_002103.5(GYS1):c.666C>G (p.Asn222Lys)
|
rs201548356
|
|
NM_002103.5(GYS1):c.67G>A (p.Asp23Asn)
|
|
|
NM_002103.5(GYS1):c.704A>T (p.Glu235Val)
|
rs2038830108
|
|
NM_002103.5(GYS1):c.797C>T (p.Ala266Val)
|
rs1253678206
|
|
NM_002103.5(GYS1):c.827T>C (p.Ile276Thr)
|
rs2038788050
|
|
NM_002103.5(GYS1):c.853AAG[1] (p.Lys286del)
|
rs760885403
|
|
NM_002103.5(GYS1):c.872A>G (p.His291Arg)
|
rs967075263
|
|
NM_002103.5(GYS1):c.892G>A (p.Ala298Thr)
|
|
|
NM_002103.5(GYS1):c.908G>A (p.Arg303Gln)
|
|
|
NM_002103.5(GYS1):c.926G>A (p.Arg309Gln)
|
rs1183870445
|
|
NM_002103.5(GYS1):c.941+5G>A
|
|
|
NM_002103.5(GYS1):c.944A>T (p.His315Leu)
|
rs1432327187
|
|
NM_002103.5(GYS1):c.985G>A (p.Ala329Thr)
|
|
|
NM_002103.5(GYS1):c.988G>C (p.Gly330Arg)
|
|
|
NM_002103.5(GYS1):c.98C>G (p.Ala33Gly)
|
|
|
NM_002103.5(GYS1):c.992G>C (p.Arg331Pro)
|
rs1280294667
|
|
NM_002294.3(LAMP2):c.*2148AT[8]
|
rs753399289
|
|
NM_002294.3(LAMP2):c.*2736T>A
|
rs1057515738
|
|
NM_002294.3(LAMP2):c.*2955A>G
|
rs1275264834
|
|
NM_002294.3(LAMP2):c.*3347GTTA[1]
|
rs764018077
|
|
NM_002294.3(LAMP2):c.*3413T>C
|
rs1180263874
|
|
NM_002294.3(LAMP2):c.*3563T>G
|
rs2058504321
|
|
NM_002294.3(LAMP2):c.*3677C>A
|
rs1057515737
|
|
NM_002294.3(LAMP2):c.*653A>G
|
rs1057515744
|
|
NM_002294.3(LAMP2):c.*692G>A
|
rs1057515743
|
|
NM_002294.3(LAMP2):c.-103G>C
|
rs1057515747
|
|
NM_002294.3(LAMP2):c.-26_-15dup
|
rs1556124241
|
|
NM_002294.3(LAMP2):c.1009G>C (p.Val337Leu)
|
|
|
NM_002294.3(LAMP2):c.1015G>C (p.Val339Leu)
|
rs1602532154
|
|
NM_002294.3(LAMP2):c.1030C>G (p.Gln344Glu)
|
|
|
NM_002294.3(LAMP2):c.1033A>G (p.Ile345Val)
|
|
|
NM_002294.3(LAMP2):c.1040C>G (p.Thr347Ser)
|
rs730880487
|
|
NM_002294.3(LAMP2):c.1048C>G (p.Leu350Val)
|
rs1057515745
|
|
NM_002294.3(LAMP2):c.1054G>A (p.Val352Ile)
|
|
|
NM_002294.3(LAMP2):c.1084T>C (p.Tyr362His)
|
|
|
NM_002294.3(LAMP2):c.1093+2440_1093+2441del
|
rs2147277541
|
|
NM_002294.3(LAMP2):c.1093+2532G>T
|
rs730880488
|
|
NM_002294.3(LAMP2):c.1093+5G>A
|
|
|
NM_002294.3(LAMP2):c.1094-1G>C
|
rs1331940434
|
|
NM_002294.3(LAMP2):c.1094-2A>G
|
rs2147273254
|
|
NM_002294.3(LAMP2):c.1103G>A (p.Cys368Tyr)
|
|
|
NM_002294.3(LAMP2):c.1118A>T (p.Asp373Val)
|
rs769995100
|
|
NM_002294.3(LAMP2):c.1123T>C (p.Phe375Leu)
|
rs2058522629
|
|
NM_002294.3(LAMP2):c.1127T>C (p.Leu376Pro)
|
rs2058522581
|
|
NM_002294.3(LAMP2):c.1175T>C (p.Val392Ala)
|
|
|
NM_002294.3(LAMP2):c.1193T>C (p.Ile398Thr)
|
rs727504625
|
|
NM_002294.3(LAMP2):c.1196G>C (p.Gly399Ala)
|
|
|
NM_002294.3(LAMP2):c.1204C>A (p.His402Asn)
|
rs1418868953
|
|
NM_002294.3(LAMP2):c.1204C>T (p.His402Tyr)
|
|
|
NM_002294.3(LAMP2):c.1205A>G (p.His402Arg)
|
rs2058522237
|
|
NM_002294.3(LAMP2):c.1213G>A (p.Ala405Thr)
|
rs1556078130
|
|
NM_002294.3(LAMP2):c.1217G>T (p.Gly406Val)
|
rs2058522120
|
|
NM_002294.3(LAMP2):c.13C>T (p.Arg5Cys)
|
rs2147294900
|
|
NM_002294.3(LAMP2):c.14G>T (p.Arg5Leu)
|
rs1921666685
|
|
NM_002294.3(LAMP2):c.158G>T (p.Arg53Leu)
|
|
|
NM_002294.3(LAMP2):c.166A>G (p.Thr56Ala)
|
rs2147287602
|
|
NM_002294.3(LAMP2):c.184-18A>G
|
|
|
NM_002294.3(LAMP2):c.199T>C (p.Ser67Pro)
|
rs2147286966
|
|
NM_002294.3(LAMP2):c.1A>C (p.Met1Leu)
|
rs1556124149
|
|
NM_002294.3(LAMP2):c.200C>T (p.Ser67Leu)
|
|
|
NM_002294.3(LAMP2):c.211A>G (p.Thr71Ala)
|
|
|
NM_002294.3(LAMP2):c.212C>T (p.Thr71Ile)
|
|
|
NM_002294.3(LAMP2):c.251A>G (p.Asn84Ser)
|
rs2147286887
|
|
NM_002294.3(LAMP2):c.25G>C (p.Val9Leu)
|
rs1921665698
|
|
NM_002294.3(LAMP2):c.260A>C (p.Lys87Thr)
|
rs1556112678
|
|
NM_002294.3(LAMP2):c.263T>C (p.Ile88Thr)
|
rs1569371283
|
|
NM_002294.3(LAMP2):c.280C>G (p.Pro94Ala)
|
rs2147286839
|
|
NM_002294.3(LAMP2):c.281C>T (p.Pro94Leu)
|
|
|
NM_002294.3(LAMP2):c.286T>C (p.Phe96Leu)
|
rs1421127800
|
|
NM_002294.3(LAMP2):c.313G>A (p.Ala105Thr)
|
|
|
NM_002294.3(LAMP2):c.316G>A (p.Ala106Thr)
|
rs1305798857
|
|
NM_002294.3(LAMP2):c.316G>T (p.Ala106Ser)
|
rs1305798857
|
|
NM_002294.3(LAMP2):c.331A>G (p.Ile111Val)
|
rs762218821
|
|
NM_002294.3(LAMP2):c.334G>A (p.Asp112Asn)
|
|
|
NM_002294.3(LAMP2):c.339C>G (p.Ser113Arg)
|
rs147369153
|
|
NM_002294.3(LAMP2):c.344C>T (p.Ser115Leu)
|
|
|
NM_002294.3(LAMP2):c.358A>C (p.Thr120Pro)
|
|
|
NM_002294.3(LAMP2):c.364G>A (p.Asp122Asn)
|
rs730880480
|
|
NM_002294.3(LAMP2):c.380C>G (p.Pro127Arg)
|
rs1200950486
|
|
NM_002294.3(LAMP2):c.380C>T (p.Pro127Leu)
|
rs1200950486
|
|
NM_002294.3(LAMP2):c.382G>T (p.Asp128Tyr)
|
|
|
NM_002294.3(LAMP2):c.398G>A (p.Gly133Glu)
|
rs2147283120
|
|
NM_002294.3(LAMP2):c.409G>C (p.Val137Leu)
|
rs2147283117
|
|
NM_002294.3(LAMP2):c.413A>G (p.Asp138Gly)
|
|
|
NM_002294.3(LAMP2):c.416A>T (p.Glu139Val)
|
rs1602536486
|
|
NM_002294.3(LAMP2):c.424G>C (p.Ala142Pro)
|
rs2058610678
|
|
NM_002294.3(LAMP2):c.425C>T (p.Ala142Val)
|
|
|
NM_002294.3(LAMP2):c.449T>A (p.Leu150His)
|
|
|
NM_002294.3(LAMP2):c.455G>A (p.Arg152Lys)
|
|
|
NM_002294.3(LAMP2):c.458G>A (p.Cys153Tyr)
|
rs2058610425
|
|
NM_002294.3(LAMP2):c.458G>T (p.Cys153Phe)
|
rs2058610425
|
|
NM_002294.3(LAMP2):c.463A>G (p.Ser155Gly)
|
|
|
NM_002294.3(LAMP2):c.467T>C (p.Leu156Ser)
|
rs1385890053
|
|
NM_002294.3(LAMP2):c.490G>A (p.Val164Ile)
|
|
|
NM_002294.3(LAMP2):c.49G>A (p.Val17Ile)
|
rs777718603
|
|
NM_002294.3(LAMP2):c.52T>C (p.Cys18Arg)
|
|
|
NM_002294.3(LAMP2):c.533A>C (p.Gln178Pro)
|
rs775432228
|
|
NM_002294.3(LAMP2):c.554A>G (p.Asn185Ser)
|
rs1207197859
|
|
NM_002294.3(LAMP2):c.571A>G (p.Lys191Glu)
|
rs2058605695
|
|
NM_002294.3(LAMP2):c.581C>A (p.Thr194Asn)
|
rs1033442580
|
|
NM_002294.3(LAMP2):c.581C>G (p.Thr194Ser)
|
|
|
NM_002294.3(LAMP2):c.581C>T (p.Thr194Ile)
|
|
|
NM_002294.3(LAMP2):c.586A>G (p.Thr196Ala)
|
|
|
NM_002294.3(LAMP2):c.589G>A (p.Val197Met)
|
|
|
NM_002294.3(LAMP2):c.589G>C (p.Val197Leu)
|
rs1360458497
|
|
NM_002294.3(LAMP2):c.595C>T (p.Pro199Ser)
|
|
|
NM_002294.3(LAMP2):c.59T>G (p.Val20Gly)
|
rs1921661568
|
|
NM_002294.3(LAMP2):c.617C>T (p.Pro206Leu)
|
rs1602535864
|
|
NM_002294.3(LAMP2):c.629C>A (p.Thr210Lys)
|
rs2058604992
|
|
NM_002294.3(LAMP2):c.64+16C>T
|
rs780307352
|
|
NM_002294.3(LAMP2):c.643A>G (p.Lys215Glu)
|
rs2058604823
|
|
NM_002294.3(LAMP2):c.65-6A>G
|
rs1921113552
|
|
NM_002294.3(LAMP2):c.676A>G (p.Asn226Asp)
|
|
|
NM_002294.3(LAMP2):c.685A>G (p.Asn229Asp)
|
|
|
NM_002294.3(LAMP2):c.688G>A (p.Asp230Asn)
|
|
|
NM_002294.3(LAMP2):c.704C>T (p.Ala235Val)
|
rs2058604458
|
|
NM_002294.3(LAMP2):c.710T>C (p.Met237Thr)
|
rs2147282386
|
|
NM_002294.3(LAMP2):c.713G>C (p.Gly238Ala)
|
|
|
NM_002294.3(LAMP2):c.715C>G (p.Leu239Val)
|
rs730880481
|
|
NM_002294.3(LAMP2):c.719A>C (p.Gln240Pro)
|
|
|
NM_002294.3(LAMP2):c.731C>G (p.Thr244Ser)
|
rs1288096114
|
|
NM_002294.3(LAMP2):c.733C>G (p.Gln245Glu)
|
rs1246477767
|
|
NM_002294.3(LAMP2):c.737A>G (p.Asp246Gly)
|
rs730880482
|
|
NM_002294.3(LAMP2):c.739A>G (p.Lys247Glu)
|
|
|
NM_002294.3(LAMP2):c.741+6G>A
|
|
|
NM_002294.3(LAMP2):c.741G>A (p.Lys247=)
|
|
|
NM_002294.3(LAMP2):c.745G>A (p.Ala249Thr)
|
rs2058596707
|
|
NM_002294.3(LAMP2):c.755T>C (p.Ile252Thr)
|
rs141541387
|
|
NM_002294.3(LAMP2):c.758A>C (p.Asn253Thr)
|
|
|
NM_002294.3(LAMP2):c.770A>G (p.Asn257Ser)
|
rs1569369275
|
|
NM_002294.3(LAMP2):c.773C>G (p.Thr258Arg)
|
rs111703410
|
|
NM_002294.3(LAMP2):c.80A>G (p.Tyr27Cys)
|
rs1449153826
|
|
NM_002294.3(LAMP2):c.80A>T (p.Tyr27Phe)
|
|
|
NM_002294.3(LAMP2):c.815T>C (p.Leu272Pro)
|
rs1569369217
|
|
NM_002294.3(LAMP2):c.815T>G (p.Leu272Arg)
|
rs1569369217
|
|
NM_002294.3(LAMP2):c.823A>C (p.Asn275His)
|
rs143699208
|
|
NM_002294.3(LAMP2):c.832A>C (p.Thr278Pro)
|
rs2147281387
|
|
NM_002294.3(LAMP2):c.842A>G (p.Tyr281Cys)
|
rs397516748
|
|
NM_002294.3(LAMP2):c.850T>C (p.Phe284Leu)
|
|
|
NM_002294.3(LAMP2):c.864+5G>T
|
rs1352584474
|
|
NM_002294.3(LAMP2):c.864+6T>C
|
rs2147281347
|
|
NM_002294.3(LAMP2):c.86T>C (p.Leu29Ser)
|
|
|
NM_002294.3(LAMP2):c.878G>A (p.Arg293Gln)
|
rs1224940162
|
|
NM_002294.3(LAMP2):c.887T>C (p.Leu296Pro)
|
rs730880486
|
|
NM_002294.3(LAMP2):c.887T>G (p.Leu296Arg)
|
rs730880486
|
|
NM_002294.3(LAMP2):c.8G>C (p.Cys3Ser)
|
|
|
NM_002294.3(LAMP2):c.906C>T (p.Ser302=)
|
|
|
NM_002294.3(LAMP2):c.907A>G (p.Met303Val)
|
rs768369360
|
|
NM_002294.3(LAMP2):c.919A>G (p.Asn307Asp)
|
rs2147279488
|
|
NM_002294.3(LAMP2):c.928+3A>G
|
rs2147279469
|
|
NM_002294.3(LAMP2):c.928+4A>G
|
rs1602532732
|
|
NM_002294.3(LAMP2):c.928+5G>A
|
|
|
NM_002294.3(LAMP2):c.937A>C (p.Ile313Leu)
|
|
|
NM_002294.3(LAMP2):c.94A>G (p.Asn32Asp)
|
|
|
NM_002294.3(LAMP2):c.961T>C (p.Trp321Arg)
|
rs104894859
|
|
NM_002294.3(LAMP2):c.965A>T (p.Asp322Val)
|
|
|
NM_002294.3(LAMP2):c.970C>T (p.Pro324Ser)
|
rs866736614
|
|
NM_002294.3(LAMP2):c.973C>G (p.Leu325Val)
|
|
|
NM_002294.3(LAMP2):c.976G>C (p.Gly326Arg)
|
|
|
NM_002294.3(LAMP2):c.991T>C (p.Cys331Arg)
|
|
|
NM_002294.3(LAMP2):c.997A>G (p.Lys333Glu)
|
rs1057515746
|
|
NM_002299.4(LCT):c.*193C>T
|
rs1189424123
|
|
NM_002299.4(LCT):c.*239C>T
|
rs16832012
|
|
NM_002299.4(LCT):c.*251G>A
|
rs886054860
|
|
NM_002299.4(LCT):c.1045G>A (p.Glu349Lys)
|
rs886054868
|
|
NM_002299.4(LCT):c.122A>C (p.His41Pro)
|
rs757541640
|
|
NM_002299.4(LCT):c.2349C>T (p.Leu783=)
|
rs2077740890
|
|
NM_002299.4(LCT):c.2718C>T (p.Asp906=)
|
rs1454730571
|
|
NM_002299.4(LCT):c.2819G>A (p.Gly940Glu)
|
rs2077714482
|
|
NM_002299.4(LCT):c.2969G>T (p.Ser990Ile)
|
rs201881537
|
|
NM_002299.4(LCT):c.2983C>T (p.His995Tyr)
|
rs1261476069
|
|
NM_002299.4(LCT):c.3390G>A (p.Glu1130=)
|
rs886054865
|
|
NM_002299.4(LCT):c.3532C>T (p.Leu1178=)
|
rs886054864
|
|
NM_002299.4(LCT):c.3595G>A (p.Ala1199Thr)
|
rs886054863
|
|
NM_002299.4(LCT):c.3655C>G (p.Pro1219Ala)
|
rs138785223
|
|
NM_002299.4(LCT):c.3666C>A (p.Asn1222Lys)
|
rs2077699049
|
|
NM_002299.4(LCT):c.3804C>A (p.Pro1268=)
|
rs748206266
|
|
NM_002299.4(LCT):c.4122C>T (p.Tyr1374=)
|
rs557321611
|
|
NM_002299.4(LCT):c.4173+6_4173+8del
|
rs375300532
|
|
NM_002299.4(LCT):c.4239A>G (p.Pro1413=)
|
rs752925060
|
|
NM_002299.4(LCT):c.4404G>A (p.Ala1468=)
|
rs151321629
|
|
NM_002299.4(LCT):c.4434T>C (p.Asp1478=)
|
rs778761405
|
|
NM_002299.4(LCT):c.4447G>T (p.Ala1483Ser)
|
rs139591272
|
|
NM_002299.4(LCT):c.4664-10A>G
|
rs1575334525
|
|
NM_002299.4(LCT):c.4695C>T (p.Tyr1565=)
|
rs886054862
|
|
NM_002299.4(LCT):c.54G>C (p.Trp18Cys)
|
rs886054870
|
|
NM_002299.4(LCT):c.5563+7T>C
|
rs2077518427
|
|
NM_002299.4(LCT):c.621C>T (p.His207=)
|
rs369174474
|
|
NM_002300.7(LDHB):c.-109C>T
|
rs886049167
|
|
NM_002300.8(LDHB):c.*73T>C
|
rs886049163
|
|
NM_002300.8(LDHB):c.-34A>G
|
rs1938903896
|
|
NM_002300.8(LDHB):c.-71C>G
|
rs977721300
|
|
NM_002300.8(LDHB):c.178A>G (p.Lys60Glu)
|
rs1938543300
|
|
NM_002300.8(LDHB):c.210C>A (p.Ser70Arg)
|
rs1938542112
|
|
NM_002300.8(LDHB):c.528T>A (p.Ala176=)
|
rs886049164
|
|
NM_002300.8(LDHB):c.843G>A (p.Met281Ile)
|
rs150060988
|
|
NM_002300.8(LDHB):c.946C>T (p.Gln316Ter)
|
rs1565623986
|
|
NM_002500.4(NEUROD1):c.*1486A>G
|
rs1688569851
|
|
NM_002500.5(NEUROD1):c.*1125T>G
|
rs1688578868
|
|
NM_002500.5(NEUROD1):c.*463del
|
rs886055325
|
|
NM_002500.5(NEUROD1):c.*608T>C
|
rs1688595150
|
|
NM_002500.5(NEUROD1):c.*617C>T
|
rs886055323
|
|
NM_002500.5(NEUROD1):c.*640_*641dup
|
rs886055322
|
|
NM_002500.5(NEUROD1):c.*642_*643del
|
rs886055321
|
|
NM_002500.5(NEUROD1):c.*674_*677dup
|
rs374172497
|
|
NM_002500.5(NEUROD1):c.*676_*677dup
|
rs374172497
|
|
NM_002500.5(NEUROD1):c.*677dup
|
rs374172497
|
|
NM_002500.5(NEUROD1):c.*75G>T
|
rs1688606060
|
|
NM_002500.5(NEUROD1):c.*773A>C
|
rs886055319
|
|
NM_002500.5(NEUROD1):c.*795T>C
|
rs946367001
|
|
NM_002500.5(NEUROD1):c.*819C>G
|
rs1688587199
|
|
NM_002500.5(NEUROD1):c.*859C>A
|
rs752652027
|
|
NM_002500.5(NEUROD1):c.1040G>T (p.Ser347Ile)
|
|
|
NM_002500.5(NEUROD1):c.1055C>T (p.Ala352Val)
|
rs774325551
|
|
NM_002500.5(NEUROD1):c.112A>G (p.Lys38Glu)
|
rs1013787986
|
|
NM_002500.5(NEUROD1):c.129C>G (p.Leu43=)
|
rs116321775
|
|
NM_002500.5(NEUROD1):c.175G>C (p.Glu59Gln)
|
rs553756272
|
|
NM_002500.5(NEUROD1):c.222GGA[1] (p.Glu75del)
|
rs1190828671
|
|
NM_002500.5(NEUROD1):c.260A>G (p.Lys87Arg)
|
rs758515206
|
|
NM_002500.5(NEUROD1):c.284G>A (p.Arg95His)
|
rs1559135426
|
|
NM_002500.5(NEUROD1):c.311T>G (p.Met104Arg)
|
rs376752352
|
|
NM_002500.5(NEUROD1):c.616C>A (p.His206Asn)
|
rs201174472
|
|
NM_002500.5(NEUROD1):c.616C>G (p.His206Asp)
|
rs201174472
|
|
NM_002500.5(NEUROD1):c.793A>C (p.Thr265Pro)
|
rs761826783
|
|
NM_002500.5(NEUROD1):c.794C>G (p.Thr265Ser)
|
rs1029071008
|
|
NM_002500.5(NEUROD1):c.908A>G (p.Tyr303Cys)
|
rs886055327
|
|
NM_002500.5(NEUROD1):c.944G>C (p.Gly315Ala)
|
rs1559135056
|
|
NM_002500.5(NEUROD1):c.94G>A (p.Glu32Lys)
|
rs773755753
|
|
NM_002591.4(PCK1):c.*202G>A
|
rs886056795
|
|
NM_002591.4(PCK1):c.*349AT[6]
|
rs201179319
|
|
NM_002591.4(PCK1):c.*357_*360del
|
rs147972610
|
|
NM_002591.4(PCK1):c.*357_*362del
|
rs760440639
|
|
NM_002591.4(PCK1):c.*358TG[14]
|
rs141075201
|
|
NM_002591.4(PCK1):c.*358TG[15]
|
rs141075201
|
|
NM_002591.4(PCK1):c.*358TG[16]
|
rs141075201
|
|
NM_002591.4(PCK1):c.*358TG[17]
|
rs141075201
|
|
NM_002591.4(PCK1):c.*358TG[19]
|
rs141075201
|
|
NM_002591.4(PCK1):c.*358TG[20]
|
rs141075201
|
|
NM_002591.4(PCK1):c.*358TG[21]
|
rs141075201
|
|
NM_002591.4(PCK1):c.*358TG[24]
|
rs141075201
|
|
NM_002591.4(PCK1):c.*608A>C
|
rs2070206106
|
|
NM_002591.4(PCK1):c.-40-12T>C
|
rs2070139661
|
|
NM_002591.4(PCK1):c.-54C>T
|
rs886056794
|
|
NM_002591.4(PCK1):c.1207A>G (p.Asn403Asp)
|
rs368426390
|
|
NM_002591.4(PCK1):c.1658C>T (p.Thr553Met)
|
rs762446688
|
|
NM_002591.4(PCK1):c.1688C>T (p.Ala563Val)
|
rs1256902604
|
|
NM_002591.4(PCK1):c.203G>T (p.Arg68Leu)
|
rs147273759
|
|
NM_002591.4(PCK1):c.474C>T (p.Ile158=)
|
rs764002893
|
|
NM_002591.4(PCK1):c.716C>T (p.Ser239Leu)
|
rs139902878
|
|
NM_002591.4(PCK1):c.733T>G (p.Cys245Gly)
|
rs763473369
|
|
NM_002591.4(PCK1):c.824del (p.Gly275fs)
|
rs748437548
|
|
NM_002591.4(PCK1):c.831G>A (p.Lys277=)
|
rs371044564
|
|
NM_002591.4(PCK1):c.904G>A (p.Gly302Arg)
|
rs200817092
|
|
NM_002637.4(PHKA1):c.*2056T>A
|
rs2052298372
|
|
NM_002637.4(PHKA1):c.*503C>T
|
rs1433119416
|
|
NM_002637.4(PHKA1):c.*772C>T
|
rs2052317488
|
|
NM_002637.4(PHKA1):c.1016G>A (p.Gly339Glu)
|
|
|
NM_002637.4(PHKA1):c.1057G>A (p.Glu353Lys)
|
|
|
NM_002637.4(PHKA1):c.1072G>C (p.Val358Leu)
|
|
|
NM_002637.4(PHKA1):c.1082A>G (p.Lys361Arg)
|
rs2147761614
|
|
NM_002637.4(PHKA1):c.1100C>T (p.Pro367Leu)
|
|
|
NM_002637.4(PHKA1):c.1191A>T (p.Lys397Asn)
|
|
|
NM_002637.4(PHKA1):c.1222A>G (p.Ile408Val)
|
|
|
NM_002637.4(PHKA1):c.1222A>T (p.Ile408Phe)
|
rs2147760351
|
|
NM_002637.4(PHKA1):c.1282C>T (p.Arg428Cys)
|
rs2147757116
|
|
NM_002637.4(PHKA1):c.1316T>C (p.Val439Ala)
|
|
|
NM_002637.4(PHKA1):c.1361T>C (p.Ile454Thr)
|
|
|
NM_002637.4(PHKA1):c.1378A>G (p.Ile460Val)
|
|
|
NM_002637.4(PHKA1):c.1393A>G (p.Ile465Val)
|
|
|
NM_002637.4(PHKA1):c.1416A>C (p.Arg472Ser)
|
|
|
NM_002637.4(PHKA1):c.1459+6_1459+8del
|
rs782679415
|
|
NM_002637.4(PHKA1):c.1460-12A>G
|
|
|
NM_002637.4(PHKA1):c.152T>C (p.Ile51Thr)
|
rs2054403951
|
|
NM_002637.4(PHKA1):c.1549A>G (p.Ile517Val)
|
|
|
NM_002637.4(PHKA1):c.1592A>G (p.Tyr531Cys)
|
|
|
NM_002637.4(PHKA1):c.1623A>C (p.Glu541Asp)
|
|
|
NM_002637.4(PHKA1):c.1654A>G (p.Ser552Gly)
|
|
|
NM_002637.4(PHKA1):c.1657C>T (p.Arg553Cys)
|
|
|
NM_002637.4(PHKA1):c.1663C>T (p.Arg555Trp)
|
|
|
NM_002637.4(PHKA1):c.1664G>A (p.Arg555Gln)
|
|
|
NM_002637.4(PHKA1):c.1715-16T>C
|
|
|
NM_002637.4(PHKA1):c.1726A>G (p.Thr576Ala)
|
|
|
NM_002637.4(PHKA1):c.1745T>C (p.Ile582Thr)
|
|
|
NM_002637.4(PHKA1):c.1746C>G (p.Ile582Met)
|
|
|
NM_002637.4(PHKA1):c.1748T>C (p.Leu583Pro)
|
rs2053084669
|
|
NM_002637.4(PHKA1):c.1754C>T (p.Ala585Val)
|
|
|
NM_002637.4(PHKA1):c.1760G>A (p.Arg587Gln)
|
|
|
NM_002637.4(PHKA1):c.1819T>C (p.Phe607Leu)
|
|
|
NM_002637.4(PHKA1):c.182A>G (p.Tyr61Cys)
|
rs2054403362
|
|
NM_002637.4(PHKA1):c.184C>G (p.Arg62Gly)
|
|
|
NM_002637.4(PHKA1):c.1945G>C (p.Asp649His)
|
|
|
NM_002637.4(PHKA1):c.1946A>C (p.Asp649Ala)
|
|
|
NM_002637.4(PHKA1):c.1978G>A (p.Val660Ile)
|
|
|
NM_002637.4(PHKA1):c.199C>G (p.Arg67Gly)
|
|
|
NM_002637.4(PHKA1):c.2003T>C (p.Leu668Ser)
|
rs2052967940
|
|
NM_002637.4(PHKA1):c.2006C>A (p.Ala669Glu)
|
|
|
NM_002637.4(PHKA1):c.2008C>T (p.His670Tyr)
|
|
|
NM_002637.4(PHKA1):c.2033C>A (p.Ala678Asp)
|
rs1247275284
|
|
NM_002637.4(PHKA1):c.2035C>A (p.Pro679Thr)
|
|
|
NM_002637.4(PHKA1):c.2062C>T (p.Arg688Trp)
|
|
|
NM_002637.4(PHKA1):c.207G>C (p.Glu69Asp)
|
|
|
NM_002637.4(PHKA1):c.2092G>A (p.Asp698Asn)
|
rs1064796509
|
|
NM_002637.4(PHKA1):c.2093A>T (p.Asp698Val)
|
|
|
NM_002637.4(PHKA1):c.2101_2106del (p.Ser701_Leu702del)
|
|
|
NM_002637.4(PHKA1):c.2102C>T (p.Ser701Phe)
|
|
|
NM_002637.4(PHKA1):c.2146A>G (p.Met716Val)
|
|
|
NM_002637.4(PHKA1):c.2171A>G (p.Gln724Arg)
|
|
|
NM_002637.4(PHKA1):c.2180G>A (p.Arg727Gln)
|
|
|
NM_002637.4(PHKA1):c.219G>T (p.Lys73Asn)
|
|
|
NM_002637.4(PHKA1):c.2200G>A (p.Asp734Asn)
|
|
|
NM_002637.4(PHKA1):c.2212C>A (p.Pro738Thr)
|
|
|
NM_002637.4(PHKA1):c.2216G>A (p.Arg739Gln)
|
|
|
NM_002637.4(PHKA1):c.2219A>G (p.Gln740Arg)
|
rs2147705472
|
|
NM_002637.4(PHKA1):c.2243G>A (p.Arg748His)
|
rs2147704831
|
|
NM_002637.4(PHKA1):c.2280G>C (p.Glu760Asp)
|
|
|
NM_002637.4(PHKA1):c.2369+12A>G
|
|
|
NM_002637.4(PHKA1):c.2370A>G (p.Lys790=)
|
|
|
NM_002637.4(PHKA1):c.2379C>A (p.Asp793Glu)
|
|
|
NM_002637.4(PHKA1):c.2384A>G (p.Asn795Ser)
|
|
|
NM_002637.4(PHKA1):c.2384A>T (p.Asn795Ile)
|
|
|
NM_002637.4(PHKA1):c.2393T>C (p.Leu798Ser)
|
|
|
NM_002637.4(PHKA1):c.2416G>C (p.Val806Leu)
|
|
|
NM_002637.4(PHKA1):c.2422G>A (p.Glu808Lys)
|
|
|
NM_002637.4(PHKA1):c.2461C>T (p.Arg821Cys)
|
|
|
NM_002637.4(PHKA1):c.2471G>A (p.Gly824Asp)
|
|
|
NM_002637.4(PHKA1):c.2513A>G (p.Glu838Gly)
|
|
|
NM_002637.4(PHKA1):c.2514A>C (p.Glu838Asp)
|
|
|
NM_002637.4(PHKA1):c.2526+5T>C
|
rs1556259531
|
|
NM_002637.4(PHKA1):c.2526+6A>G
|
|
|
NM_002637.4(PHKA1):c.2546C>T (p.Ser849Phe)
|
|
|
NM_002637.4(PHKA1):c.2550C>G (p.His850Gln)
|
|
|
NM_002637.4(PHKA1):c.2558A>T (p.His853Leu)
|
|
|
NM_002637.4(PHKA1):c.2588G>A (p.Arg863Gln)
|
|
|
NM_002637.4(PHKA1):c.2599A>G (p.Ile867Val)
|
|
|
NM_002637.4(PHKA1):c.2603C>T (p.Ser868Phe)
|
|
|
NM_002637.4(PHKA1):c.2608C>T (p.Pro870Ser)
|
|
|
NM_002637.4(PHKA1):c.2615C>T (p.Pro872Leu)
|
|
|
NM_002637.4(PHKA1):c.2618A>G (p.Tyr873Cys)
|
|
|
NM_002637.4(PHKA1):c.2623G>A (p.Ala875Thr)
|
|
|
NM_002637.4(PHKA1):c.2657G>C (p.Gly886Ala)
|
|
|
NM_002637.4(PHKA1):c.2660A>T (p.Asp887Val)
|
|
|
NM_002637.4(PHKA1):c.2662A>G (p.Met888Val)
|
|
|
NM_002637.4(PHKA1):c.2689A>G (p.Ile897Val)
|
|
|
NM_002637.4(PHKA1):c.2708T>A (p.Met903Lys)
|
|
|
NM_002637.4(PHKA1):c.2715G>A (p.Met905Ile)
|
rs1603254167
|
|
NM_002637.4(PHKA1):c.2750G>A (p.Arg917Gln)
|
|
|
NM_002637.4(PHKA1):c.2750G>T (p.Arg917Leu)
|
|
|
NM_002637.4(PHKA1):c.2756G>A (p.Arg919Gln)
|
|
|
NM_002637.4(PHKA1):c.275T>C (p.Met92Thr)
|
rs2054264983
|
|
NM_002637.4(PHKA1):c.2780T>C (p.Met927Thr)
|
|
|
NM_002637.4(PHKA1):c.2839A>G (p.Met947Val)
|
|
|
NM_002637.4(PHKA1):c.285+5G>A
|
|
|
NM_002637.4(PHKA1):c.2890G>A (p.Gly964Ser)
|
|
|
NM_002637.4(PHKA1):c.2917G>A (p.Val973Ile)
|
|
|
NM_002637.4(PHKA1):c.2920C>T (p.Arg974Cys)
|
|
|
NM_002637.4(PHKA1):c.2938G>A (p.Val980Ile)
|
|
|
NM_002637.4(PHKA1):c.2957T>C (p.Ile986Thr)
|
|
|
NM_002637.4(PHKA1):c.2962G>A (p.Glu988Lys)
|
|
|
NM_002637.4(PHKA1):c.2965A>T (p.Ile989Phe)
|
|
|
NM_002637.4(PHKA1):c.2969G>A (p.Gly990Asp)
|
|
|
NM_002637.4(PHKA1):c.29G>A (p.Arg10Gln)
|
rs1603278200
|
|
NM_002637.4(PHKA1):c.3036G>A (p.Val1012=)
|
rs2147674398
|
|
NM_002637.4(PHKA1):c.3044G>A (p.Arg1015His)
|
|
|
NM_002637.4(PHKA1):c.3072+3G>A
|
|
|
NM_002637.4(PHKA1):c.3076C>T (p.Pro1026Ser)
|
|
|
NM_002637.4(PHKA1):c.3090G>T (p.Met1030Ile)
|
|
|
NM_002637.4(PHKA1):c.3101G>A (p.Ser1034Asn)
|
|
|
NM_002637.4(PHKA1):c.3103G>A (p.Gly1035Arg)
|
|
|
NM_002637.4(PHKA1):c.3116G>A (p.Ser1039Asn)
|
|
|
NM_002637.4(PHKA1):c.3119C>T (p.Ala1040Val)
|
|
|
NM_002637.4(PHKA1):c.3121T>C (p.Tyr1041His)
|
|
|
NM_002637.4(PHKA1):c.3143A>G (p.Asp1048Gly)
|
|
|
NM_002637.4(PHKA1):c.315T>G (p.Ser105Arg)
|
rs2147825866
|
|
NM_002637.4(PHKA1):c.3223G>C (p.Val1075Leu)
|
|
|
NM_002637.4(PHKA1):c.3271G>T (p.Val1091Phe)
|
|
|
NM_002637.4(PHKA1):c.3304C>A (p.Pro1102Thr)
|
|
|
NM_002637.4(PHKA1):c.3356C>T (p.Pro1119Leu)
|
|
|
NM_002637.4(PHKA1):c.3407T>C (p.Met1136Thr)
|
rs782034813
|
|
NM_002637.4(PHKA1):c.3439A>G (p.Ser1147Gly)
|
|
|
NM_002637.4(PHKA1):c.3485T>A (p.Phe1162Tyr)
|
|
|
NM_002637.4(PHKA1):c.3497A>T (p.Gln1166Leu)
|
|
|
NM_002637.4(PHKA1):c.3520A>G (p.Thr1174Ala)
|
|
|
NM_002637.4(PHKA1):c.3529G>A (p.Ala1177Thr)
|
rs2052331052
|
|
NM_002637.4(PHKA1):c.3538C>A (p.Pro1180Thr)
|
|
|
NM_002637.4(PHKA1):c.3568G>C (p.Asp1190His)
|
rs2147636584
|
|
NM_002637.4(PHKA1):c.3605A>T (p.Tyr1202Phe)
|
|
|
NM_002637.4(PHKA1):c.3611C>T (p.Ser1204Phe)
|
rs2052328981
|
|
NM_002637.4(PHKA1):c.446C>T (p.Thr149Ile)
|
|
|
NM_002637.4(PHKA1):c.466A>G (p.Ile156Val)
|
|
|
NM_002637.4(PHKA1):c.484G>A (p.Val162Ile)
|
|
|
NM_002637.4(PHKA1):c.493A>G (p.Ile165Val)
|
rs2053946596
|
|
NM_002637.4(PHKA1):c.521C>G (p.Ala174Gly)
|
rs2053946293
|
|
NM_002637.4(PHKA1):c.537+5G>A
|
|
|
NM_002637.4(PHKA1):c.576A>C (p.Gln192His)
|
|
|
NM_002637.4(PHKA1):c.647A>G (p.Asp216Gly)
|
|
|
NM_002637.4(PHKA1):c.664G>T (p.Gly222Cys)
|
|
|
NM_002637.4(PHKA1):c.665G>T (p.Gly222Val)
|
|
|
NM_002637.4(PHKA1):c.686A>G (p.His229Arg)
|
|
|
NM_002637.4(PHKA1):c.711C>G (p.His237Gln)
|
|
|
NM_002637.4(PHKA1):c.719C>G (p.Ser240Cys)
|
|
|
NM_002637.4(PHKA1):c.723C>G (p.Ile241Met)
|
|
|
NM_002637.4(PHKA1):c.743G>A (p.Arg248His)
|
|
|
NM_002637.4(PHKA1):c.784G>A (p.Val262Met)
|
|
|
NM_002637.4(PHKA1):c.982T>C (p.Trp328Arg)
|
|
|
NM_002863.5(PYGL):c.*129T>C
|
rs886050536
|
|
NM_002863.5(PYGL):c.1000G>C (p.Val334Leu)
|
rs2142798340
|
|
NM_002863.5(PYGL):c.1004C>A (p.Ala335Asp)
|
rs886050538
|
|
NM_002863.5(PYGL):c.1006A>G (p.Ile336Val)
|
rs570077088
|
|
NM_002863.5(PYGL):c.1063G>A (p.Val355Met)
|
rs771331012
|
|
NM_002863.5(PYGL):c.1090A>G (p.Lys364Glu)
|
|
|
NM_002863.5(PYGL):c.1099G>A (p.Glu367Lys)
|
|
|
NM_002863.5(PYGL):c.1159C>T (p.Arg387Cys)
|
rs773575319
|
|
NM_002863.5(PYGL):c.1160G>A (p.Arg387His)
|
|
|
NM_002863.5(PYGL):c.1160G>T (p.Arg387Leu)
|
|
|
NM_002863.5(PYGL):c.1195C>G (p.Arg399Gly)
|
rs113993978
|
|
NM_002863.5(PYGL):c.1286T>A (p.Met429Lys)
|
|
|
NM_002863.5(PYGL):c.1390G>T (p.Val464Leu)
|
rs779051230
|
|
NM_002863.5(PYGL):c.1518G>A (p.Glu506=)
|
rs748519147
|
|
NM_002863.5(PYGL):c.16A>C (p.Thr6Pro)
|
rs2050732195
|
|
NM_002863.5(PYGL):c.1715A>G (p.His572Arg)
|
|
|
NM_002863.5(PYGL):c.1768+10C>T
|
rs780893472
|
|
NM_002863.5(PYGL):c.1902C>G (p.Asp634Glu)
|
|
|
NM_002863.5(PYGL):c.1925A>C (p.Lys642Thr)
|
|
|
NM_002863.5(PYGL):c.1970-7C>G
|
|
|
NM_002863.5(PYGL):c.2014A>C (p.Thr672Pro)
|
rs1241000496
|
|
NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr)
|
rs113993987
|
|
NM_002863.5(PYGL):c.2042A>G (p.Lys681Arg)
|
|
|
NM_002863.5(PYGL):c.2056G>C (p.Gly686Arg)
|
rs2050377435
|
|
NM_002863.5(PYGL):c.2062_2088del (p.Leu688_Ala696del)
|
rs2050376472
|
|
NM_002863.5(PYGL):c.2066C>T (p.Thr689Ile)
|
rs2142788432
|
|
NM_002863.5(PYGL):c.2071G>A (p.Gly691Arg)
|
rs539898848
|
|
NM_002863.5(PYGL):c.208C>A (p.Arg70Ser)
|
rs1555328661
|
|
NM_002863.5(PYGL):c.211A>C (p.Thr71Pro)
|
|
|
NM_002863.5(PYGL):c.2142G>A (p.Met714Ile)
|
|
|
NM_002863.5(PYGL):c.2178-8_2178-7insT
|
|
|
NM_002863.5(PYGL):c.2197T>C (p.Tyr733His)
|
|
|
NM_002863.5(PYGL):c.2209C>T (p.Pro737Ser)
|
rs759925909
|
|
NM_002863.5(PYGL):c.229_231del (p.Asp77del)
|
|
|
NM_002863.5(PYGL):c.2341T>C (p.Tyr781His)
|
rs2142785955
|
|
NM_002863.5(PYGL):c.2446C>T (p.Arg816Ter)
|
|
|
NM_002863.5(PYGL):c.2447G>A (p.Arg816Gln)
|
|
|
NM_002863.5(PYGL):c.2544_*12del (p.Ter848CysextTer?)
|
|
|
NM_002863.5(PYGL):c.275T>G (p.Met92Arg)
|
rs767745350
|
|
NM_002863.5(PYGL):c.281G>A (p.Arg94Gln)
|
|
|
NM_002863.5(PYGL):c.283A>G (p.Thr95Ala)
|
rs200623468
|
|
NM_002863.5(PYGL):c.310G>A (p.Gly104Ser)
|
rs762102544
|
|
NM_002863.5(PYGL):c.322G>A (p.Ala108Thr)
|
rs745625131
|
|
NM_002863.5(PYGL):c.360A>T (p.Ile120=)
|
rs1159794818
|
|
NM_002863.5(PYGL):c.406G>C (p.Gly136Arg)
|
rs2139194721
|
|
NM_002863.5(PYGL):c.41T>A (p.Ile14Asn)
|
rs1566518078
|
|
NM_002863.5(PYGL):c.444G>A (p.Met148Ile)
|
rs2050603053
|
|
NM_002863.5(PYGL):c.449C>T (p.Thr150Ile)
|
rs1596047964
|
|
NM_002863.5(PYGL):c.49C>T (p.Arg17Cys)
|
|
|
NM_002863.5(PYGL):c.559G>A (p.Gly187Arg)
|
rs770642815
|
|
NM_002863.5(PYGL):c.592A>C (p.Met198Leu)
|
|
|
NM_002863.5(PYGL):c.607T>G (p.Phe203Val)
|
rs1345778137
|
|
NM_002863.5(PYGL):c.637G>A (p.Gly213Arg)
|
rs1043083798
|
|
NM_002863.5(PYGL):c.660+16G>A
|
|
|
NM_002863.5(PYGL):c.728G>A (p.Arg243His)
|
rs1445713979
|
|
NM_002863.5(PYGL):c.749C>T (p.Pro250Leu)
|
rs1472614445
|
|
NM_002863.5(PYGL):c.772+5G>T
|
rs2050494485
|
|
NM_002863.5(PYGL):c.773-13A>G
|
rs775151283
|
|
NM_002863.5(PYGL):c.777T>A (p.Asn259Lys)
|
|
|
NM_002863.5(PYGL):c.780del (p.Gly261fs)
|
rs1489848369
|
|
NM_002863.5(PYGL):c.823A>G (p.Asn275Asp)
|
rs2050490818
|
|
NM_002863.5(PYGL):c.865G>A (p.Gly289Arg)
|
rs2139174321
|
|
NM_003041.4(SLC5A2):c.*160C>T
|
rs2082559242
|
|
NM_003041.4(SLC5A2):c.1036G>A (p.Val346Met)
|
|
|
NM_003041.4(SLC5A2):c.1129+6G>A
|
rs2082520576
|
|
NM_003041.4(SLC5A2):c.1265T>C (p.Leu422Pro)
|
rs1198340932
|
|
NM_003041.4(SLC5A2):c.1269G>T (p.Leu423=)
|
rs537643888
|
|
NM_003041.4(SLC5A2):c.1274T>A (p.Val425Glu)
|
rs2082525420
|
|
NM_003041.4(SLC5A2):c.1307T>C (p.Val436Ala)
|
rs886051961
|
|
NM_003041.4(SLC5A2):c.1366A>C (p.Ile456Leu)
|
rs2082529261
|
|
NM_003041.4(SLC5A2):c.1373C>T (p.Ala458Val)
|
|
|
NM_003041.4(SLC5A2):c.1417C>A (p.Leu473Met)
|
rs1426433916
|
|
NM_003041.4(SLC5A2):c.1449+14G>A
|
rs777309894
|
|
NM_003041.4(SLC5A2):c.1450-4G>A
|
rs886051962
|
|
NM_003041.4(SLC5A2):c.152C>T (p.Thr51Ile)
|
rs2082481220
|
|
NM_003041.4(SLC5A2):c.1532G>C (p.Cys511Ser)
|
|
|
NM_003041.4(SLC5A2):c.1616T>G (p.Leu539Arg)
|
|
|
NM_003041.4(SLC5A2):c.1652T>C (p.Ile551Thr)
|
rs772983040
|
|
NM_003041.4(SLC5A2):c.1690C>T (p.Arg564Trp)
|
|
|
NM_003041.4(SLC5A2):c.1792+2T>C
|
|
|
NM_003041.4(SLC5A2):c.1806G>C (p.Pro602=)
|
rs368649902
|
|
NM_003041.4(SLC5A2):c.1807G>A (p.Ala603Thr)
|
rs1188721313
|
|
NM_003041.4(SLC5A2):c.1889AGG[2] (p.Glu632del)
|
rs771257793
|
|
NM_003041.4(SLC5A2):c.1933G>A (p.Glu645Lys)
|
rs760556743
|
|
NM_003041.4(SLC5A2):c.197C>T (p.Pro66Leu)
|
|
|
NM_003041.4(SLC5A2):c.2012A>T (p.Tyr671Phe)
|
rs141376808
|
|
NM_003041.4(SLC5A2):c.2013T>C (p.Tyr671=)
|
rs2082556858
|
|
NM_003041.4(SLC5A2):c.226A>G (p.Ile76Val)
|
|
|
NM_003041.4(SLC5A2):c.350A>G (p.Tyr117Cys)
|
|
|
NM_003041.4(SLC5A2):c.416G>A (p.Arg139His)
|
rs1378076282
|
|
NM_003041.4(SLC5A2):c.451A>C (p.Ile151Leu)
|
rs146552221
|
|
NM_003041.4(SLC5A2):c.655+5G>A
|
|
|
NM_003041.4(SLC5A2):c.655+6G>C
|
rs779984246
|
|
NM_003041.4(SLC5A2):c.673G>A (p.Gly225Arg)
|
|
|
NM_003041.4(SLC5A2):c.683G>T (p.Gly228Val)
|
|
|
NM_003041.4(SLC5A2):c.776G>A (p.Arg259Gln)
|
|
|
NM_003041.4(SLC5A2):c.959T>C (p.Leu320Pro)
|
|
|
NM_003051.3(SLC16A1):c.-214C>G
|
rs183726141
|
|
NM_003051.3(SLC16A1):c.-226G>A
|
rs886045089
|
|
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_003051.4(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.1228+6G>A
|
rs190615745
|
|
NM_003051.4(SLC16A1):c.1430T>C (p.Val477Ala)
|
rs886045067
|
|
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.983G>T (p.Arg328Leu)
|
rs774823539
|
|
NM_003384.3(VRK1):c.*104A>G
|
rs1889251007
|
|
NM_003384.3(VRK1):c.*171C>A
|
rs1889253340
|
|
NM_003384.3(VRK1):c.*211A>G
|
rs886050949
|
|
NM_003384.3(VRK1):c.*338A>G
|
rs1889259011
|
|
NM_003384.3(VRK1):c.1000A>G (p.Lys334Glu)
|
rs1261157260
|
|
NM_003384.3(VRK1):c.1004A>G (p.Asp335Gly)
|
rs1888350254
|
|
NM_003384.3(VRK1):c.1004A>T (p.Asp335Val)
|
rs1888350254
|
|
NM_003384.3(VRK1):c.1013A>G (p.Lys338Arg)
|
rs779911846
|
|
NM_003384.3(VRK1):c.1024_1025delinsCC (p.Ser342Pro)
|
rs1566713262
|
|
NM_003384.3(VRK1):c.1035G>T (p.Glu345Asp)
|
|
|
NM_003384.3(VRK1):c.1066A>G (p.Lys356Glu)
|
|
|
NM_003384.3(VRK1):c.1069-6T>C
|
rs1889016062
|
|
NM_003384.3(VRK1):c.1070A>T (p.Lys357Met)
|
rs1595691552
|
|
NM_003384.3(VRK1):c.1096A>G (p.Lys366Glu)
|
|
|
NM_003384.3(VRK1):c.109T>A (p.Trp37Arg)
|
rs2139748832
|
|
NM_003384.3(VRK1):c.1103C>G (p.Pro368Arg)
|
rs1470768259
|
|
NM_003384.3(VRK1):c.1106G>C (p.Gly369Ala)
|
rs1168205465
|
|
NM_003384.3(VRK1):c.1117A>C (p.Thr373Pro)
|
rs199759408
|
|
NM_003384.3(VRK1):c.1123T>C (p.Trp375Arg)
|
rs1595691599
|
|
NM_003384.3(VRK1):c.1160-2A>G
|
rs199916225
|
|
NM_003384.3(VRK1):c.1160-5T>C
|
rs2139857584
|
|
NM_003384.3(VRK1):c.1171A>G (p.Arg391Gly)
|
|
|
NM_003384.3(VRK1):c.1172G>C (p.Arg391Thr)
|
|
|
NM_003384.3(VRK1):c.1174_1177del (p.Lys392fs)
|
rs749258908
|
|
NM_003384.3(VRK1):c.133C>A (p.Gln45Lys)
|
|
|
NM_003384.3(VRK1):c.184G>A (p.Val62Ile)
|
rs1555360117
|
|
NM_003384.3(VRK1):c.197C>T (p.Ala66Val)
|
|
|
NM_003384.3(VRK1):c.217-3A>G
|
rs1009112116
|
|
NM_003384.3(VRK1):c.221C>G (p.Pro74Arg)
|
|
|
NM_003384.3(VRK1):c.230A>G (p.Asn77Ser)
|
|
|
NM_003384.3(VRK1):c.238C>G (p.Leu80Val)
|
rs2139779081
|
|
NM_003384.3(VRK1):c.247G>A (p.Glu83Lys)
|
rs2139779137
|
|
NM_003384.3(VRK1):c.284A>C (p.Gln95Pro)
|
rs1887677369
|
|
NM_003384.3(VRK1):c.291G>T (p.Gln97His)
|
|
|
NM_003384.3(VRK1):c.323T>C (p.Leu108Pro)
|
|
|
NM_003384.3(VRK1):c.373A>G (p.Ser125Gly)
|
rs1887746110
|
|
NM_003384.3(VRK1):c.374+11G>A
|
rs937625087
|
|
NM_003384.3(VRK1):c.379A>T (p.Arg127Trp)
|
rs1888003676
|
|
NM_003384.3(VRK1):c.388A>T (p.Ile130Leu)
|
|
|
NM_003384.3(VRK1):c.397C>G (p.Arg133Gly)
|
rs387906830
|
|
NM_003384.3(VRK1):c.418A>G (p.Lys140Glu)
|
rs764788560
|
|
NM_003384.3(VRK1):c.439A>G (p.Lys147Glu)
|
rs1888005284
|
|
NM_003384.3(VRK1):c.469C>T (p.Leu157=)
|
|
|
NM_003384.3(VRK1):c.46A>G (p.Lys16Glu)
|
rs763034734
|
|
NM_003384.3(VRK1):c.476T>C (p.Leu159Ser)
|
rs888338488
|
|
NM_003384.3(VRK1):c.483T>A (p.Ile161=)
|
rs1888008625
|
|
NM_003384.3(VRK1):c.494T>C (p.Leu165Pro)
|
rs1888014947
|
|
NM_003384.3(VRK1):c.512A>G (p.His171Arg)
|
|
|
NM_003384.3(VRK1):c.526G>A (p.Gly176Arg)
|
rs888762581
|
|
NM_003384.3(VRK1):c.529_534dup (p.Asp177_Ile178dup)
|
rs2139796397
|
|
NM_003384.3(VRK1):c.536A>G (p.Lys179Arg)
|
rs1566708080
|
|
NM_003384.3(VRK1):c.544A>C (p.Asn182His)
|
rs745552947
|
|
NM_003384.3(VRK1):c.546TCT[2] (p.Leu185del)
|
rs774219368
|
|
NM_003384.3(VRK1):c.551T>A (p.Leu184His)
|
rs1888017746
|
|
NM_003384.3(VRK1):c.571G>A (p.Asp191Asn)
|
|
|
NM_003384.3(VRK1):c.585G>C (p.Leu195Phe)
|
rs748878251
|
|
NM_003384.3(VRK1):c.586G>C (p.Val196Leu)
|
rs372089106
|
|
NM_003384.3(VRK1):c.608G>A (p.Arg203Gln)
|
|
|
NM_003384.3(VRK1):c.616C>T (p.Pro206Ser)
|
|
|
NM_003384.3(VRK1):c.637T>C (p.Tyr213His)
|
rs1595676477
|
|
NM_003384.3(VRK1):c.668G>A (p.Gly223Asp)
|
rs1555361508
|
|
NM_003384.3(VRK1):c.668G>T (p.Gly223Val)
|
rs1555361508
|
|
NM_003384.3(VRK1):c.673A>G (p.Ile225Val)
|
|
|
NM_003384.3(VRK1):c.692A>G (p.Asp231Gly)
|
rs757917768
|
|
NM_003384.3(VRK1):c.694G>T (p.Ala232Ser)
|
rs2139802156
|
|
NM_003384.3(VRK1):c.706G>A (p.Val236Met)
|
rs771364038
|
|
NM_003384.3(VRK1):c.740T>C (p.Leu247Pro)
|
rs1478722226
|
|
NM_003384.3(VRK1):c.750C>G (p.Cys250Trp)
|
rs1888144387
|
|
NM_003384.3(VRK1):c.758A>G (p.Gln253Arg)
|
rs768822328
|
|
NM_003384.3(VRK1):c.767C>T (p.Thr256Ile)
|
|
|
NM_003384.3(VRK1):c.769G>A (p.Gly257Ser)
|
rs1064797191
|
|
NM_003384.3(VRK1):c.7_8delinsTT (p.Arg3Phe)
|
rs1566696565
|
|
NM_003384.3(VRK1):c.805A>G (p.Lys269Glu)
|
rs1888147421
|
|
NM_003384.3(VRK1):c.817G>C (p.Asp273His)
|
rs1595677216
|
|
NM_003384.3(VRK1):c.830G>A (p.Arg277Lys)
|
rs1888148684
|
|
NM_003384.3(VRK1):c.882C>G (p.Asn294Lys)
|
rs541660707
|
|
NM_003384.3(VRK1):c.8G>A (p.Arg3His)
|
rs902439355
|
|
NM_003384.3(VRK1):c.925C>G (p.Leu309Val)
|
|
|
NM_003384.3(VRK1):c.944C>T (p.Pro315Leu)
|
rs761494436
|
|
NM_003384.3(VRK1):c.962G>A (p.Arg321His)
|
rs200927943
|
|
NM_003384.3(VRK1):c.967A>G (p.Ile323Val)
|
rs754315181
|
|
NM_003384.3(VRK1):c.971T>G (p.Leu324Arg)
|
rs2139814873
|
|
NM_003384.3(VRK1):c.998G>A (p.Ser333Asn)
|
|
|
NM_003477.2(PDHX):c.-271G>T
|
rs780153979
|
|
NM_003477.3(PDHX):c.*662A>T
|
rs1855847638
|
|
NM_003477.3(PDHX):c.*783G>T
|
rs751318367
|
|
NM_003477.3(PDHX):c.*821A>T
|
rs1020596537
|
|
NM_003477.3(PDHX):c.*874A>G
|
rs1855851456
|
|
NM_003477.3(PDHX):c.-27C>T
|
rs529801753
|
|
NM_003477.3(PDHX):c.1061G>A (p.Gly354Asp)
|
rs200189510
|
|
NM_003477.3(PDHX):c.1204G>T (p.Asp402Tyr)
|
rs756801221
|
|
NM_003477.3(PDHX):c.1418G>C (p.Ser473Thr)
|
|
|
NM_003477.3(PDHX):c.23G>C (p.Gly8Ala)
|
|
|
NM_003477.3(PDHX):c.293C>T (p.Ala98Val)
|
|
|
NM_003477.3(PDHX):c.35G>A (p.Arg12Gln)
|
rs200419151
|
|
NM_003477.3(PDHX):c.38T>C (p.Leu13Pro)
|
|
|
NM_003477.3(PDHX):c.403G>T (p.Gly135Ter)
|
rs769476738
|
|
NM_003477.3(PDHX):c.585C>G (p.His195Gln)
|
rs886048247
|
|
NM_003477.3(PDHX):c.702T>C (p.Thr234=)
|
rs772231144
|
|
NM_003477.3(PDHX):c.793A>G (p.Thr265Ala)
|
|
|
NM_003477.3(PDHX):c.841A>G (p.Ser281Gly)
|
rs886048248
|
|
NM_003477.3(PDHX):c.940A>G (p.Lys314Glu)
|
rs1855230194
|
|
NM_003597.5(KLF11):c.*1296T>C
|
rs886054730
|
|
NM_003597.5(KLF11):c.*1495G>A
|
rs886054733
|
|
NM_003597.5(KLF11):c.*1612C>G
|
rs886054734
|
|
NM_003597.5(KLF11):c.*1894A>G
|
rs557209557
|
|
NM_003597.5(KLF11):c.*319C>T
|
rs777727299
|
|
NM_003597.5(KLF11):c.*457A>T
|
rs920552860
|
|
NM_003597.5(KLF11):c.*96dup
|
rs886054725
|
|
NM_003597.5(KLF11):c.-95GCC[7]
|
rs372827624
|
|
NM_003597.5(KLF11):c.1037G>T (p.Gly346Val)
|
rs964899969
|
|
NM_003597.5(KLF11):c.1057C>A (p.Pro353Thr)
|
rs886054724
|
|
NM_003597.5(KLF11):c.1396A>G (p.Ser466Gly)
|
rs757875185
|
|
NM_003597.5(KLF11):c.308C>T (p.Thr103Ile)
|
|
|
NM_003597.5(KLF11):c.351A>G (p.Pro117=)
|
rs781433096
|
|
NM_003597.5(KLF11):c.57C>A (p.Asp19Glu)
|
|
|
NM_003597.5(KLF11):c.644A>G (p.Gln215Arg)
|
rs1347317649
|
|
NM_003597.5(KLF11):c.926T>C (p.Leu309Ser)
|
rs1661291203
|
|
NM_003619.4(PRSS12):c.*1431C>T
|
rs548846144
|
|
NM_003619.4(PRSS12):c.*1577A>G
|
rs1742810283
|
|
NM_003619.4(PRSS12):c.*1699T>C
|
rs886059024
|
|
NM_003619.4(PRSS12):c.*260C>T
|
rs886059031
|
|
NM_003619.4(PRSS12):c.*263A>G
|
rs957795451
|
|
NM_003619.4(PRSS12):c.*278T>A
|
rs886059030
|
|
NM_003619.4(PRSS12):c.*526T>A
|
rs886059029
|
|
NM_003619.4(PRSS12):c.*531C>A
|
rs886059028
|
|
NM_003619.4(PRSS12):c.*830C>T
|
rs886059026
|
|
NM_003619.4(PRSS12):c.*839T>C
|
rs1343646133
|
|
NM_003619.4(PRSS12):c.*842C>G
|
rs886059025
|
|
NM_003619.4(PRSS12):c.*849C>T
|
rs1742836402
|
|
NM_003619.4(PRSS12):c.*906A>G
|
rs1742834260
|
|
NM_003619.4(PRSS12):c.*950A>C
|
rs1314051273
|
|
NM_003619.4(PRSS12):c.113C>T (p.Pro38Leu)
|
|
|
NM_003619.4(PRSS12):c.121C>T (p.Pro41Ser)
|
rs761103069
|
|
NM_003619.4(PRSS12):c.1381A>G (p.Arg461Gly)
|
rs1743806508
|
|
NM_003619.4(PRSS12):c.1395T>A (p.Cys465Ter)
|
rs1560774339
|
|
NM_003619.4(PRSS12):c.1402C>T (p.Arg468Ter)
|
|
|
NM_003619.4(PRSS12):c.1512T>C (p.Asp504=)
|
rs886059035
|
|
NM_003619.4(PRSS12):c.1722G>A (p.Arg574=)
|
rs1743319957
|
|
NM_003619.4(PRSS12):c.1788A>T (p.Gly596=)
|
rs886059034
|
|
NM_003619.4(PRSS12):c.1917-4T>C
|
rs1743223579
|
|
NM_003619.4(PRSS12):c.1918G>C (p.Gly640Arg)
|
|
|
NM_003619.4(PRSS12):c.195C>T (p.Phe65=)
|
rs1671147684
|
|
NM_003619.4(PRSS12):c.1974G>T (p.Arg658Ser)
|
rs371384574
|
|
NM_003619.4(PRSS12):c.2040-1G>C
|
rs780630558
|
|
NM_003619.4(PRSS12):c.2050A>G (p.Ser684Gly)
|
rs369577707
|
|
NM_003619.4(PRSS12):c.2173T>C (p.Tyr725His)
|
rs558433873
|
|
NM_003619.4(PRSS12):c.2268_2274delinsAC (p.Arg757fs)
|
|
|
NM_003619.4(PRSS12):c.235G>C (p.Ala79Pro)
|
rs767822958
|
|
NM_003619.4(PRSS12):c.254C>A (p.Thr85Lys)
|
rs1724538705
|
|
NM_003619.4(PRSS12):c.274G>C (p.Gly92Arg)
|
rs1191488477
|
|
NM_003619.4(PRSS12):c.359A>C (p.Glu120Ala)
|
|
|
NM_003619.4(PRSS12):c.365C>T (p.Ser122Leu)
|
rs755655664
|
|
NM_003619.4(PRSS12):c.524G>A (p.Gly175Asp)
|
rs72677056
|
|
NM_003619.4(PRSS12):c.916G>A (p.Asp306Asn)
|
rs1723924890
|
|
NM_003619.4(PRSS12):c.918T>G (p.Asp306Glu)
|
rs1723924725
|
|
NM_003680.4(YARS1):c.611A>C (p.Tyr204Ser)
|
rs1217293329
|
|
NM_003754.3(EIF3F):c.653+3G>T
|
rs200275224
|
|
NM_003754.3(EIF3F):c.916C>T (p.Arg306Cys)
|
|
|
NM_003805.5(CRADD):c.316A>T (p.Ile106Phe)
|
rs199846727
|
|
NM_004130.4(GYG1):c.1016ACA[1] (p.Asn340del)
|
rs1368197366
|
|
NM_004130.4(GYG1):c.1036G>T (p.Asp346Tyr)
|
|
|
NM_004130.4(GYG1):c.1039A>G (p.Thr347Ala)
|
rs759064665
|
|
NM_004130.4(GYG1):c.112C>T (p.Leu38Phe)
|
|
|
NM_004130.4(GYG1):c.115G>A (p.Ala39Thr)
|
|
|
NM_004130.4(GYG1):c.143+3G>T
|
|
|
NM_004130.4(GYG1):c.160G>T (p.Val54Phe)
|
|
|
NM_004130.4(GYG1):c.179T>C (p.Met60Thr)
|
rs2107886926
|
|
NM_004130.4(GYG1):c.203A>G (p.Asp68Gly)
|
rs1712787449
|
|
NM_004130.4(GYG1):c.248C>G (p.Thr83Arg)
|
rs267606858
|
|
NM_004130.4(GYG1):c.251T>C (p.Leu84Pro)
|
|
|
NM_004130.4(GYG1):c.25C>G (p.Leu9Val)
|
rs111907916
|
|
NM_004130.4(GYG1):c.272C>T (p.Ser91Leu)
|
|
|
NM_004130.4(GYG1):c.318+6T>A
|
|
|
NM_004130.4(GYG1):c.332T>C (p.Ile111Thr)
|
|
|
NM_004130.4(GYG1):c.337G>C (p.Asp113His)
|
rs968503138
|
|
NM_004130.4(GYG1):c.339T>A (p.Asp113Glu)
|
rs781200988
|
|
NM_004130.4(GYG1):c.36C>G (p.Asn12Lys)
|
rs761710847
|
|
NM_004130.4(GYG1):c.370C>T (p.Pro124Ser)
|
rs1712821278
|
|
NM_004130.4(GYG1):c.425C>T (p.Ser142Leu)
|
rs1576538459
|
|
NM_004130.4(GYG1):c.440A>G (p.Asn147Ser)
|
|
|
NM_004130.4(GYG1):c.442C>A (p.Gln148Lys)
|
|
|
NM_004130.4(GYG1):c.452A>G (p.His151Arg)
|
rs35054019
|
|
NM_004130.4(GYG1):c.482G>A (p.Gly161Asp)
|
|
|
NM_004130.4(GYG1):c.487G>A (p.Asp163Asn)
|
rs2107902685
|
|
NM_004130.4(GYG1):c.491A>G (p.Gln164Arg)
|
|
|
NM_004130.4(GYG1):c.529A>G (p.Thr177Ala)
|
|
|
NM_004130.4(GYG1):c.533A>T (p.Asp178Val)
|
rs752987232
|
|
NM_004130.4(GYG1):c.56C>T (p.Ala19Val)
|
|
|
NM_004130.4(GYG1):c.590A>G (p.Tyr197Cys)
|
|
|
NM_004130.4(GYG1):c.599C>T (p.Ala200Val)
|
|
|
NM_004130.4(GYG1):c.5C>G (p.Thr2Arg)
|
|
|
NM_004130.4(GYG1):c.607G>A (p.Val203Met)
|
|
|
NM_004130.4(GYG1):c.647G>A (p.Arg216Gln)
|
rs1035133767
|
|
NM_004130.4(GYG1):c.662A>C (p.Asn221Thr)
|
rs1412348949
|
|
NM_004130.4(GYG1):c.668C>T (p.Thr223Ile)
|
|
|
NM_004130.4(GYG1):c.750G>T (p.Trp250Cys)
|
|
|
NM_004130.4(GYG1):c.752A>T (p.Asn251Ile)
|
|
|
NM_004130.4(GYG1):c.764C>T (p.Thr255Ile)
|
rs2107921962
|
|
NM_004130.4(GYG1):c.769G>A (p.Val257Ile)
|
|
|
NM_004130.4(GYG1):c.814T>C (p.Ser272Pro)
|
|
|
NM_004130.4(GYG1):c.815C>T (p.Ser272Leu)
|
rs1226277771
|
|
NM_004130.4(GYG1):c.820G>A (p.Val274Ile)
|
|
|
NM_004130.4(GYG1):c.851T>G (p.Leu284Arg)
|
|
|
NM_004130.4(GYG1):c.865G>A (p.Gly289Ser)
|
rs1167301212
|
|
NM_004130.4(GYG1):c.866G>T (p.Gly289Val)
|
rs1553733613
|
|
NM_004130.4(GYG1):c.875G>C (p.Arg292Thr)
|
|
|
NM_004130.4(GYG1):c.880G>C (p.Glu294Gln)
|
|
|
NM_004130.4(GYG1):c.883G>A (p.Asp295Asn)
|
rs202085215
|
|
NM_004130.4(GYG1):c.890C>T (p.Ser297Leu)
|
rs2107924774
|
|
NM_004130.4(GYG1):c.896C>T (p.Ala299Val)
|
|
|
NM_004130.4(GYG1):c.901T>C (p.Ser301Pro)
|
|
|
NM_004130.4(GYG1):c.916G>T (p.Gly306Trp)
|
|
|
NM_004130.4(GYG1):c.933G>A (p.Met311Ile)
|
rs2107924879
|
|
NM_004130.4(GYG1):c.934_942del (p.Ala312_Pro314del)
|
|
|
NM_004130.4(GYG1):c.953C>T (p.Ser318Leu)
|
|
|
NM_004130.4(GYG1):c.955G>C (p.Glu319Gln)
|
rs1714679440
|
|
NM_004130.4(GYG1):c.962G>A (p.Arg321Gln)
|
rs566702762
|
|
NM_004130.4(GYG1):c.971G>A (p.Arg324Gln)
|
|
|
NM_004130.4(GYG1):c.98_100delinsATT (p.Arg33_Arg34delinsAsnTrp)
|
rs2107884534
|
|
NM_004563.4(PCK2):c.157C>T (p.Arg53Cys)
|
rs201059299
|
|
NM_004563.4(PCK2):c.1907G>A (p.Arg636His)
|
rs145739132
|
|
NM_004830.4(MED23):c.1078-6T>G
|
|
|
NM_004830.4(MED23):c.1708T>G (p.Leu570Val)
|
rs1775691162
|
|
NM_004830.4(MED23):c.2176A>G (p.Asn726Asp)
|
rs1775354988
|
|
NM_004830.4(MED23):c.2998C>A (p.Arg1000Ser)
|
rs866726564
|
|
NM_004830.4(MED23):c.3566G>T (p.Arg1189Leu)
|
rs146599947
|
|
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.*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.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.1111A>G (p.Ile371Val)
|
rs2133795523
|
|
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+5C>A
|
|
|
NM_005271.5(GLUD1):c.1198-11CT[2]
|
rs753448342
|
|
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.1279-3T>C
|
rs1845868081
|
|
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.1442A>T (p.His481Leu)
|
rs1169592069
|
|
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.1495G>A (p.Gly499Ser)
|
rs121909733
|
|
NM_005271.5(GLUD1):c.1557+12G>A
|
rs201872390
|
|
NM_005271.5(GLUD1):c.1558-5T>A
|
|
|
NM_005271.5(GLUD1):c.1637T>C (p.Val546Ala)
|
rs2133773089
|
|
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.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.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.452G>C (p.Arg151Pro)
|
rs777627931
|
|
NM_005271.5(GLUD1):c.53C>T (p.Ala18Val)
|
|
|
NM_005271.5(GLUD1):c.546T>C (p.Ala182=)
|
rs886047378
|
|
NM_005271.5(GLUD1):c.615C>G (p.Phe205Leu)
|
|
|
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.757G>A (p.Ala253Thr)
|
|
|
NM_005271.5(GLUD1):c.803G>A (p.Arg268His)
|
|
|
NM_005271.5(GLUD1):c.839T>C (p.Ile280Thr)
|
rs1845968579
|
|
NM_005271.5(GLUD1):c.919C>T (p.Gln307Ter)
|
rs886047375
|
|
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_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.*661dup
|
rs886058981
|
|
NM_005327.7(HADH):c.100G>A (p.Gly34Ser)
|
rs779135938
|
|
NM_005327.7(HADH):c.106G>C (p.Gly36Arg)
|
rs994692222
|
|
NM_005327.7(HADH):c.132+6C>G
|
rs772843585
|
|
NM_005327.7(HADH):c.134T>C (p.Val45Ala)
|
|
|
NM_005327.7(HADH):c.21G>A (p.Gln7=)
|
rs886058980
|
|
NM_005327.7(HADH):c.220C>T (p.Leu74Phe)
|
rs1735422340
|
|
NM_005327.7(HADH):c.235AAG[2] (p.Lys81del)
|
rs763318550
|
|
NM_005327.7(HADH):c.243G>T (p.Lys81Asn)
|
|
|
NM_005327.7(HADH):c.264C>T (p.Ala88=)
|
rs201324954
|
|
NM_005327.7(HADH):c.291G>T (p.Leu97=)
|
rs552317372
|
|
NM_005327.7(HADH):c.311C>T (p.Thr104Met)
|
|
|
NM_005327.7(HADH):c.316G>A (p.Ala106Thr)
|
|
|
NM_005327.7(HADH):c.32C>T (p.Ser11Phe)
|
|
|
NM_005327.7(HADH):c.374_375insTTCA (p.Lys125fs)
|
rs766656997
|
|
NM_005327.7(HADH):c.380A>G (p.Lys127Arg)
|
rs1735626197
|
|
NM_005327.7(HADH):c.388C>T (p.Leu130Phe)
|
|
|
NM_005327.7(HADH):c.419+39del
|
rs550348868
|
|
NM_005327.7(HADH):c.420A>T (p.Glu140Asp)
|
|
|
NM_005327.7(HADH):c.422A>G (p.His141Arg)
|
|
|
NM_005327.7(HADH):c.427A>G (p.Ile143Val)
|
|
|
NM_005327.7(HADH):c.443C>T (p.Thr148Ile)
|
|
|
NM_005327.7(HADH):c.497T>A (p.Phe166Tyr)
|
|
|
NM_005327.7(HADH):c.50C>T (p.Thr17Ile)
|
|
|
NM_005327.7(HADH):c.533T>A (p.Met178Lys)
|
|
|
NM_005327.7(HADH):c.617del (p.Lys206fs)
|
rs1735963864
|
|
NM_005327.7(HADH):c.643C>T (p.Pro215Ser)
|
rs140413151
|
|
NM_005327.7(HADH):c.688G>A (p.Ala230Thr)
|
rs780574282
|
|
NM_005327.7(HADH):c.705A>C (p.Glu235Asp)
|
|
|
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.805A>G (p.Thr269Ala)
|
rs1736341112
|
|
NM_005327.7(HADH):c.806C>G (p.Thr269Ser)
|
rs754403207
|
|
NM_005327.7(HADH):c.825T>C (p.Asp275=)
|
|
|
NM_005327.7(HADH):c.825T>G (p.Asp275Glu)
|
rs1736344235
|
|
NM_005327.7(HADH):c.832C>T (p.His278Tyr)
|
|
|
NM_005327.7(HADH):c.875C>T (p.Ser292Phe)
|
|
|
NM_005327.7(HADH):c.8T>C (p.Phe3Ser)
|
rs2126215379
|
|
NM_005327.7(HADH):c.906C>G (p.Phe302Leu)
|
|
|
NM_005536.4(IMPA1):c.719G>A (p.Gly240Asp)
|
rs1260261553
|
|
NM_005566.4(LDHA):c.*18T>C
|
rs1866725270
|
|
NM_005566.4(LDHA):c.*48C>T
|
rs1866727073
|
|
NM_005566.4(LDHA):c.*501C>A
|
rs886048090
|
|
NM_005566.4(LDHA):c.*52G>T
|
rs1866727649
|
|
NM_005566.4(LDHA):c.*586A>G
|
rs886048091
|
|
NM_005566.4(LDHA):c.*694C>T
|
rs1866763337
|
|
NM_005566.4(LDHA):c.117C>G (p.Ile39Met)
|
rs756599511
|
|
NM_005566.4(LDHA):c.121A>G (p.Met41Val)
|
|
|
NM_005566.4(LDHA):c.126+3_126+6del
|
rs776715682
|
|
NM_005566.4(LDHA):c.126G>A (p.Lys42=)
|
|
|
NM_005566.4(LDHA):c.170A>G (p.Lys57Arg)
|
rs2134021578
|
|
NM_005566.4(LDHA):c.189G>A (p.Met63Ile)
|
|
|
NM_005566.4(LDHA):c.269A>G (p.Lys90Arg)
|
|
|
NM_005566.4(LDHA):c.280A>T (p.Ile94Phe)
|
|
|
NM_005566.4(LDHA):c.308G>A (p.Gly103Glu)
|
|
|
NM_005566.4(LDHA):c.334C>T (p.Arg112Cys)
|
|
|
NM_005566.4(LDHA):c.340G>A (p.Val114Met)
|
|
|
NM_005566.4(LDHA):c.369TGT[1] (p.Val125del)
|
|
|
NM_005566.4(LDHA):c.386C>G (p.Pro129Arg)
|
|
|
NM_005566.4(LDHA):c.386C>T (p.Pro129Leu)
|
|
|
NM_005566.4(LDHA):c.396G>T (p.Lys132Asn)
|
|
|
NM_005566.4(LDHA):c.416C>T (p.Pro139Leu)
|
|
|
NM_005566.4(LDHA):c.436G>A (p.Val146Met)
|
|
|
NM_005566.4(LDHA):c.445A>G (p.Lys149Glu)
|
|
|
NM_005566.4(LDHA):c.460C>T (p.Pro154Ser)
|
|
|
NM_005566.4(LDHA):c.470G>A (p.Arg157His)
|
rs368815124
|
|
NM_005566.4(LDHA):c.476T>A (p.Ile159Asn)
|
rs768761936
|
|
NM_005566.4(LDHA):c.484G>A (p.Gly162Ser)
|
|
|
NM_005566.4(LDHA):c.493C>A (p.Leu165Met)
|
|
|
NM_005566.4(LDHA):c.52A>G (p.Thr18Ala)
|
|
|
NM_005566.4(LDHA):c.538G>T (p.Val180Phe)
|
rs200586792
|
|
NM_005566.4(LDHA):c.53C>G (p.Thr18Ser)
|
|
|
NM_005566.4(LDHA):c.53C>T (p.Thr18Ile)
|
|
|
NM_005566.4(LDHA):c.592+7A>G
|
rs770770614
|
|
NM_005566.4(LDHA):c.675del (p.Glu225fs)
|
rs751851558
|
|
NM_005566.4(LDHA):c.710+5T>C
|
|
|
NM_005566.4(LDHA):c.711-3C>T
|
|
|
NM_005566.4(LDHA):c.764_765del (p.Ser255fs)
|
rs779893062
|
|
NM_005566.4(LDHA):c.766G>A (p.Val256Ile)
|
|
|
NM_005566.4(LDHA):c.7A>G (p.Thr3Ala)
|
|
|
NM_005566.4(LDHA):c.803G>A (p.Arg268Lys)
|
|
|
NM_005566.4(LDHA):c.808G>T (p.Val270Leu)
|
|
|
NM_005566.4(LDHA):c.821C>T (p.Ser274Phe)
|
|
|
NM_005566.4(LDHA):c.824C>T (p.Thr275Ile)
|
|
|
NM_005566.4(LDHA):c.83T>C (p.Val28Ala)
|
|
|
NM_005566.4(LDHA):c.843C>T (p.Tyr281=)
|
|
|
NM_005566.4(LDHA):c.854A>T (p.Asp285Val)
|
|
|
NM_005566.4(LDHA):c.925A>C (p.Thr309Pro)
|
rs1866719004
|
|
NM_005566.4(LDHA):c.941C>T (p.Ala314Val)
|
|
|
NM_005566.4(LDHA):c.943C>T (p.Arg315Cys)
|
|
|
NM_005566.4(LDHA):c.975G>T (p.Gly325=)
|
rs1866722555
|
|
NM_005566.4(LDHA):c.984G>A (p.Lys328=)
|
rs1866722699
|
|
NM_005566.4(LDHA):c.985G>T (p.Glu329Ter)
|
rs121912479
|
|
NM_005609.2(PYGM):c.-556C>G
|
rs886048467
|
|
NM_005609.2(PYGM):c.-668C>T
|
rs886048468
|
|
NM_005609.4(PYGM):c.-23G>A
|
rs886048465
|
|
NM_005609.4(PYGM):c.1000G>A (p.Val334Met)
|
|
|
NM_005609.4(PYGM):c.1001T>C (p.Val334Ala)
|
|
|
NM_005609.4(PYGM):c.101G>A (p.Arg34Gln)
|
|
|
NM_005609.4(PYGM):c.1027C>T (p.Pro343Ser)
|
|
|
NM_005609.4(PYGM):c.1055G>A (p.Arg352Lys)
|
|
|
NM_005609.4(PYGM):c.1076G>A (p.Arg359Gln)
|
|
|
NM_005609.4(PYGM):c.1093-3C>T
|
|
|
NM_005609.4(PYGM):c.1126A>G (p.Thr376Ala)
|
rs1592411804
|
|
NM_005609.4(PYGM):c.1127C>T (p.Thr376Ile)
|
|
|
NM_005609.4(PYGM):c.1129A>T (p.Asn377Tyr)
|
rs954192338
|
|
NM_005609.4(PYGM):c.1134C>A (p.His378Gln)
|
rs2135834122
|
|
NM_005609.4(PYGM):c.1142T>C (p.Leu381Pro)
|
rs1156945983
|
|
NM_005609.4(PYGM):c.1144C>G (p.Pro382Ala)
|
|
|
NM_005609.4(PYGM):c.1151C>T (p.Ala384Val)
|
rs1465752595
|
|
NM_005609.4(PYGM):c.1164G>C (p.Trp388Cys)
|
rs2058376345
|
|
NM_005609.4(PYGM):c.1166C>A (p.Pro389Gln)
|
rs149649134
|
|
NM_005609.4(PYGM):c.1173C>A (p.His391Gln)
|
|
|
NM_005609.4(PYGM):c.1198C>T (p.His400Tyr)
|
rs2058375583
|
|
NM_005609.4(PYGM):c.1205A>C (p.Gln402Pro)
|
rs2135833836
|
|
NM_005609.4(PYGM):c.1219A>G (p.Ile407Val)
|
|
|
NM_005609.4(PYGM):c.121G>A (p.Val41Ile)
|
|
|
NM_005609.4(PYGM):c.1220T>C (p.Ile407Thr)
|
|
|
NM_005609.4(PYGM):c.1228C>T (p.Arg410Cys)
|
|
|
NM_005609.4(PYGM):c.1238A>G (p.Asn413Ser)
|
|
|
NM_005609.4(PYGM):c.1239C>A (p.Asn413Lys)
|
|
|
NM_005609.4(PYGM):c.1240C>T (p.Arg414Trp)
|
|
|
NM_005609.4(PYGM):c.1241G>A (p.Arg414Gln)
|
|
|
NM_005609.4(PYGM):c.1252G>A (p.Ala418Thr)
|
|
|
NM_005609.4(PYGM):c.1262G>A (p.Gly421Glu)
|
|
|
NM_005609.4(PYGM):c.1264G>A (p.Asp422Asn)
|
|
|
NM_005609.4(PYGM):c.1267G>A (p.Val423Ile)
|
|
|
NM_005609.4(PYGM):c.1273C>T (p.Arg425Trp)
|
rs577821154
|
|
NM_005609.4(PYGM):c.1274G>A (p.Arg425Gln)
|
rs368608057
|
|
NM_005609.4(PYGM):c.1282C>T (p.Arg428Cys)
|
rs750700202
|
|
NM_005609.4(PYGM):c.1283G>A (p.Arg428His)
|
|
|
NM_005609.4(PYGM):c.1298AGG[1] (p.Glu434del)
|
|
|
NM_005609.4(PYGM):c.1306G>A (p.Ala436Thr)
|
|
|
NM_005609.4(PYGM):c.130C>T (p.Arg44Cys)
|
|
|
NM_005609.4(PYGM):c.1312_1314dup (p.Lys438dup)
|
rs1555135069
|
|
NM_005609.4(PYGM):c.1328C>T (p.Ala443Val)
|
|
|
NM_005609.4(PYGM):c.134A>G (p.Asn45Ser)
|
|
|
NM_005609.4(PYGM):c.1354_1355delinsAT (p.Ala452Ile)
|
|
|
NM_005609.4(PYGM):c.1357G>T (p.Val453Phe)
|
|
|
NM_005609.4(PYGM):c.1369G>A (p.Ala457Thr)
|
|
|
NM_005609.4(PYGM):c.1379A>G (p.His460Arg)
|
rs2135832903
|
|
NM_005609.4(PYGM):c.1402A>G (p.Ile468Val)
|
|
|
NM_005609.4(PYGM):c.1404-20C>T
|
|
|
NM_005609.4(PYGM):c.1433A>G (p.His478Arg)
|
rs758131128
|
|
NM_005609.4(PYGM):c.1443G>C (p.Gln481His)
|
rs767125939
|
|
NM_005609.4(PYGM):c.1448A>C (p.Lys483Thr)
|
rs2135832293
|
|
NM_005609.4(PYGM):c.1463C>A (p.Thr488Asn)
|
rs1555134900
|
|
NM_005609.4(PYGM):c.1463C>T (p.Thr488Ile)
|
rs1555134900
|
|
NM_005609.4(PYGM):c.146C>A (p.Pro49Gln)
|
|
|
NM_005609.4(PYGM):c.1513G>T (p.Ala505Ser)
|
|
|
NM_005609.4(PYGM):c.1519C>T (p.Arg507Cys)
|
|
|
NM_005609.4(PYGM):c.1524C>G (p.Ile508Met)
|
|
|
NM_005609.4(PYGM):c.152ACT[4] (p.Tyr53dup)
|
rs1325298827
|
|
NM_005609.4(PYGM):c.1533C>A (p.Asp511Glu)
|
|
|
NM_005609.4(PYGM):c.1533C>G (p.Asp511Glu)
|
|
|
NM_005609.4(PYGM):c.1568T>C (p.Leu523Pro)
|
|
|
NM_005609.4(PYGM):c.1600G>T (p.Asp534Tyr)
|
|
|
NM_005609.4(PYGM):c.161T>A (p.Phe54Tyr)
|
|
|
NM_005609.4(PYGM):c.1620+5G>T
|
rs2135831177
|
|
NM_005609.4(PYGM):c.1620+6G>A
|
rs2058362817
|
|
NM_005609.4(PYGM):c.1629G>A (p.Lys543=)
|
rs2058360665
|
|
NM_005609.4(PYGM):c.1657G>A (p.Glu553Lys)
|
|
|
NM_005609.4(PYGM):c.1672A>G (p.Ile558Val)
|
|
|
NM_005609.4(PYGM):c.1685C>T (p.Ser562Leu)
|
|
|
NM_005609.4(PYGM):c.1687C>T (p.Leu563Phe)
|
|
|
NM_005609.4(PYGM):c.1727G>A (p.Arg576Gln)
|
rs759218298
|
|
NM_005609.4(PYGM):c.1769-7T>C
|
rs2058357396
|
|
NM_005609.4(PYGM):c.1769G>A (p.Arg590His)
|
|
|
NM_005609.4(PYGM):c.177C>T (p.Thr59=)
|
rs753355735
|
|
NM_005609.4(PYGM):c.1817T>C (p.Ile606Thr)
|
|
|
NM_005609.4(PYGM):c.181C>T (p.Arg61Cys)
|
rs1413461008
|
|
NM_005609.4(PYGM):c.1832C>T (p.Ala611Val)
|
|
|
NM_005609.4(PYGM):c.1834C>G (p.Pro612Ala)
|
rs1419658107
|
|
NM_005609.4(PYGM):c.1874C>T (p.Thr625Ile)
|
|
|
NM_005609.4(PYGM):c.1904C>T (p.Pro635Leu)
|
|
|
NM_005609.4(PYGM):c.1915G>T (p.Asp639Tyr)
|
rs1592409000
|
|
NM_005609.4(PYGM):c.1919G>A (p.Arg640His)
|
|
|
NM_005609.4(PYGM):c.193G>C (p.Val65Leu)
|
|
|
NM_005609.4(PYGM):c.1975C>A (p.Pro659Thr)
|
|
|
NM_005609.4(PYGM):c.1996C>G (p.Gln666Glu)
|
rs119103256
|
|
NM_005609.4(PYGM):c.2011G>T (p.Gly671Cys)
|
|
|
NM_005609.4(PYGM):c.2020G>A (p.Ala674Thr)
|
rs2058348746
|
|
NM_005609.4(PYGM):c.2021C>T (p.Ala674Val)
|
|
|
NM_005609.4(PYGM):c.2032G>C (p.Gly678Arg)
|
rs755716626
|
|
NM_005609.4(PYGM):c.2047A>G (p.Met683Val)
|
rs1309230359
|
|
NM_005609.4(PYGM):c.2053A>C (p.Asn685His)
|
rs1592408348
|
|
NM_005609.4(PYGM):c.208_210del (p.Arg70del)
|
|
|
NM_005609.4(PYGM):c.2104G>A (p.Glu702Lys)
|
|
|
NM_005609.4(PYGM):c.2116G>A (p.Glu706Lys)
|
|
|
NM_005609.4(PYGM):c.2123A>T (p.Asn708Ile)
|
|
|
NM_005609.4(PYGM):c.2127C>A (p.Phe709Leu)
|
|
|
NM_005609.4(PYGM):c.212C>G (p.Thr71Arg)
|
|
|
NM_005609.4(PYGM):c.2143C>A (p.Arg715=)
|
rs780656375
|
|
NM_005609.4(PYGM):c.2216T>C (p.Leu739Pro)
|
rs370144967
|
|
NM_005609.4(PYGM):c.222C>G (p.His74Gln)
|
|
|
NM_005609.4(PYGM):c.2249T>G (p.Phe750Cys)
|
|
|
NM_005609.4(PYGM):c.2249TCT[1] (p.Phe751del)
|
rs758842259
|
|
NM_005609.4(PYGM):c.224A>T (p.Tyr75Phe)
|
|
|
NM_005609.4(PYGM):c.2267C>T (p.Pro756Leu)
|
|
|
NM_005609.4(PYGM):c.22C>A (p.Gln8Lys)
|
rs886048464
|
|
NM_005609.4(PYGM):c.2301G>C (p.Met767Ile)
|
|
|
NM_005609.4(PYGM):c.2306A>C (p.His769Pro)
|
|
|
NM_005609.4(PYGM):c.2311C>G (p.Arg771Gly)
|
rs369382075
|
|
NM_005609.4(PYGM):c.2311C>T (p.Arg771Trp)
|
rs369382075
|
|
NM_005609.4(PYGM):c.2312+3G>C
|
rs1555133430
|
|
NM_005609.4(PYGM):c.2319A>C (p.Lys773Asn)
|
rs2058315823
|
|
NM_005609.4(PYGM):c.2326G>A (p.Ala776Thr)
|
|
|
NM_005609.4(PYGM):c.2342A>G (p.Tyr781Cys)
|
rs2135823341
|
|
NM_005609.4(PYGM):c.2345T>C (p.Ile782Thr)
|
|
|
NM_005609.4(PYGM):c.2367C>G (p.Ser789Arg)
|
rs750356895
|
|
NM_005609.4(PYGM):c.2368G>A (p.Ala790Thr)
|
|
|
NM_005609.4(PYGM):c.2373G>T (p.Leu791Phe)
|
rs2058315104
|
|
NM_005609.4(PYGM):c.2382C>T (p.Asn794=)
|
rs540487525
|
|
NM_005609.4(PYGM):c.2384C>A (p.Pro795Gln)
|
|
|
NM_005609.4(PYGM):c.2399G>A (p.Arg800Gln)
|
|
|
NM_005609.4(PYGM):c.2411G>A (p.Arg804Gln)
|
|
|
NM_005609.4(PYGM):c.2417T>C (p.Ile806Thr)
|
|
|
NM_005609.4(PYGM):c.242A>G (p.Lys81Arg)
|
|
|
NM_005609.4(PYGM):c.2450C>A (p.Thr817Asn)
|
rs886048460
|
|
NM_005609.4(PYGM):c.2462A>G (p.Tyr821Cys)
|
|
|
NM_005609.4(PYGM):c.2465C>T (p.Ala822Val)
|
|
|
NM_005609.4(PYGM):c.2467C>T (p.Arg823Trp)
|
|
|
NM_005609.4(PYGM):c.247A>T (p.Ile83Phe)
|
|
|
NM_005609.4(PYGM):c.2500C>G (p.Arg834Gly)
|
|
|
NM_005609.4(PYGM):c.2500C>T (p.Arg834Cys)
|
|
|
NM_005609.4(PYGM):c.2512C>G (p.Pro838Ala)
|
|
|
NM_005609.4(PYGM):c.2515G>A (p.Asp839Asn)
|
|
|
NM_005609.4(PYGM):c.2516A>T (p.Asp839Val)
|
rs2058310112
|
|
NM_005609.4(PYGM):c.2518G>A (p.Glu840Lys)
|
|
|
NM_005609.4(PYGM):c.2525T>A (p.Ile842Asn)
|
|
|
NM_005609.4(PYGM):c.2527T>A (p.Ter843Arg)
|
rs1400353740
|
|
NM_005609.4(PYGM):c.253T>C (p.Tyr85His)
|
|
|
NM_005609.4(PYGM):c.307C>G (p.Leu103Val)
|
rs2135840833
|
|
NM_005609.4(PYGM):c.345+17_345+18delinsAA
|
|
|
NM_005609.4(PYGM):c.345G>C (p.Gln115His)
|
rs2135840732
|
|
NM_005609.4(PYGM):c.358A>C (p.Met120Leu)
|
|
|
NM_005609.4(PYGM):c.359T>C (p.Met120Thr)
|
|
|
NM_005609.4(PYGM):c.391G>A (p.Gly131Arg)
|
rs2058409644
|
|
NM_005609.4(PYGM):c.406G>A (p.Gly136Ser)
|
|
|
NM_005609.4(PYGM):c.415C>T (p.Arg139Trp)
|
rs367990192
|
|
NM_005609.4(PYGM):c.424+4A>G
|
|
|
NM_005609.4(PYGM):c.454G>A (p.Gly152Ser)
|
|
|
NM_005609.4(PYGM):c.458T>G (p.Leu153Arg)
|
rs2135840127
|
|
NM_005609.4(PYGM):c.46G>A (p.Val16Met)
|
|
|
NM_005609.4(PYGM):c.470G>A (p.Gly157Asp)
|
rs2058407754
|
|
NM_005609.4(PYGM):c.475G>C (p.Gly159Arg)
|
rs760654579
|
|
NM_005609.4(PYGM):c.50G>A (p.Arg17His)
|
|
|
NM_005609.4(PYGM):c.517G>A (p.Gly173Arg)
|
rs141265458
|
|
NM_005609.4(PYGM):c.521G>A (p.Gly174Asp)
|
rs1555136375
|
|
NM_005609.4(PYGM):c.535G>C (p.Glu179Gln)
|
|
|
NM_005609.4(PYGM):c.537G>A (p.Glu179=)
|
rs886048462
|
|
NM_005609.4(PYGM):c.554G>A (p.Arg185His)
|
|
|
NM_005609.4(PYGM):c.586G>A (p.Glu196Lys)
|
|
|
NM_005609.4(PYGM):c.593C>T (p.Thr198Met)
|
|
|
NM_005609.4(PYGM):c.614G>A (p.Gly205Asp)
|
|
|
NM_005609.4(PYGM):c.628A>T (p.Thr210Ser)
|
|
|
NM_005609.4(PYGM):c.667C>G (p.Leu223Val)
|
rs772025653
|
|
NM_005609.4(PYGM):c.67_75del (p.Glu23_Val25del)
|
rs1555136828
|
|
NM_005609.4(PYGM):c.691G>A (p.Val231Met)
|
|
|
NM_005609.4(PYGM):c.694C>G (p.Pro232Ala)
|
|
|
NM_005609.4(PYGM):c.710A>G (p.Asn237Ser)
|
|
|
NM_005609.4(PYGM):c.728G>A (p.Arg243His)
|
rs1312195500
|
|
NM_005609.4(PYGM):c.736T>C (p.Ser246Pro)
|
rs1555135785
|
|
NM_005609.4(PYGM):c.739G>A (p.Ala247Thr)
|
|
|
NM_005609.4(PYGM):c.781G>A (p.Gly261Ser)
|
|
|
NM_005609.4(PYGM):c.799G>C (p.Val267Leu)
|
|
|
NM_005609.4(PYGM):c.80A>G (p.Glu27Gly)
|
|
|
NM_005609.4(PYGM):c.828C>G (p.Ile276Met)
|
|
|
NM_005609.4(PYGM):c.833G>C (p.Arg278Pro)
|
rs775556109
|
|
NM_005609.4(PYGM):c.855+3G>T
|
|
|
NM_005609.4(PYGM):c.855T>G (p.Asn285Lys)
|
|
|
NM_005609.4(PYGM):c.889G>C (p.Glu297Gln)
|
|
|
NM_005609.4(PYGM):c.898G>A (p.Val300Met)
|
rs757387408
|
|
NM_005609.4(PYGM):c.898G>C (p.Val300Leu)
|
rs757387408
|
|
NM_005609.4(PYGM):c.932G>A (p.Arg311His)
|
|
|
NM_005609.4(PYGM):c.941C>A (p.Ser314Tyr)
|
|
|
NM_005609.4(PYGM):c.967G>T (p.Val323Leu)
|
rs770104418
|
|
NM_005609.4(PYGM):c.970C>G (p.Arg324Gly)
|
|
|
NM_005609.4(PYGM):c.974C>T (p.Thr325Met)
|
|
|
NM_005609.4(PYGM):c.977A>T (p.Asn326Ile)
|
|
|
NM_005609.4(PYGM):c.982G>C (p.Asp328His)
|
rs758682386
|
|
NM_005609.4(PYGM):c.988T>C (p.Phe330Leu)
|
|
|
NM_005609.4(PYGM):c.992C>A (p.Pro331Gln)
|
|
|
NM_005609.4(PYGM):c.999+9C>T
|
rs183026465
|
|
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr)
|
rs374338349
|
|
NM_005670.4(EPM2A):c.298G>T (p.Glu100Ter)
|
|
|
NM_005670.4(EPM2A):c.476G>A (p.Arg159Lys)
|
|
|
NM_005670.4(EPM2A):c.499G>C (p.Gly167Arg)
|
rs1776588836
|
|
NM_005670.4(EPM2A):c.789C>G (p.Tyr263Ter)
|
|
|
NM_005883.3(APC2):c.2595C>A (p.His865Gln)
|
rs2145233148
|
|
NM_005883.3(APC2):c.4616G>C (p.Arg1539Pro)
|
rs367655515
|
|
NM_005883.3(APC2):c.5772G>C (p.Gln1924His)
|
rs2084082995
|
|
NM_005883.3(APC2):c.583C>T (p.Arg195Cys)
|
rs1158412843
|
|
NM_005883.3(APC2):c.6111C>T (p.Phe2037=)
|
rs1405418055
|
|
NM_005883.3(APC2):c.757C>T (p.Pro253Ser)
|
rs555858661
|
|
NM_005883.3(APC2):c.796C>A (p.Pro266Thr)
|
rs146579468
|
|
NM_005908.4(MANBA):c.*314A>G
|
rs886058966
|
|
NM_005908.4(MANBA):c.*328T>A
|
rs1729383430
|
|
NM_005908.4(MANBA):c.*503G>C
|
rs1022995879
|
|
NM_005908.4(MANBA):c.-13_112del (p.Met1fs)
|
|
|
NM_005908.4(MANBA):c.106G>A (p.Gly36Ser)
|
|
|
NM_005908.4(MANBA):c.1073T>C (p.Ile358Thr)
|
rs2110226355
|
|
NM_005908.4(MANBA):c.1097G>C (p.Arg366Pro)
|
|
|
NM_005908.4(MANBA):c.10C>T (p.His4Tyr)
|
|
|
NM_005908.4(MANBA):c.110C>T (p.Ser37Leu)
|
|
|
NM_005908.4(MANBA):c.1118G>A (p.Arg373Gln)
|
|
|
NM_005908.4(MANBA):c.1223G>T (p.Gly408Val)
|
|
|
NM_005908.4(MANBA):c.1230+12A>G
|
|
|
NM_005908.4(MANBA):c.1240G>A (p.Asp414Asn)
|
rs2110220981
|
|
NM_005908.4(MANBA):c.1247T>G (p.Met416Arg)
|
|
|
NM_005908.4(MANBA):c.1255T>C (p.Cys419Arg)
|
|
|
NM_005908.4(MANBA):c.130G>A (p.Val44Ile)
|
rs1432738569
|
|
NM_005908.4(MANBA):c.1319T>A (p.Ile440Asn)
|
|
|
NM_005908.4(MANBA):c.1352T>A (p.Ile451Lys)
|
|
|
NM_005908.4(MANBA):c.1376A>T (p.Glu459Val)
|
|
|
NM_005908.4(MANBA):c.1394A>G (p.Asn465Ser)
|
|
|
NM_005908.4(MANBA):c.1420C>T (p.Arg474Trp)
|
rs141230920
|
|
NM_005908.4(MANBA):c.1434C>G (p.Ile478Met)
|
|
|
NM_005908.4(MANBA):c.1517G>A (p.Ser506Asn)
|
|
|
NM_005908.4(MANBA):c.1550C>T (p.Ala517Val)
|
|
|
NM_005908.4(MANBA):c.1572T>C (p.Asn524=)
|
rs2110210086
|
|
NM_005908.4(MANBA):c.1589A>G (p.Asp530Gly)
|
|
|
NM_005908.4(MANBA):c.1649G>A (p.Arg550Gln)
|
rs745958233
|
|
NM_005908.4(MANBA):c.1679G>T (p.Trp560Leu)
|
|
|
NM_005908.4(MANBA):c.1696T>G (p.Leu566Val)
|
|
|
NM_005908.4(MANBA):c.169C>A (p.Leu57Met)
|
rs1349054936
|
|
NM_005908.4(MANBA):c.1726T>A (p.Ser576Thr)
|
|
|
NM_005908.4(MANBA):c.1754G>A (p.Arg585Gln)
|
rs200033515
|
|
NM_005908.4(MANBA):c.1754G>T (p.Arg585Leu)
|
rs200033515
|
|
NM_005908.4(MANBA):c.177+3A>G
|
rs2110217534
|
|
NM_005908.4(MANBA):c.177+4T>A
|
|
|
NM_005908.4(MANBA):c.178-3C>T
|
rs556686364
|
|
NM_005908.4(MANBA):c.1823G>A (p.Ser608Asn)
|
rs1730287301
|
|
NM_005908.4(MANBA):c.1829A>C (p.Asp610Ala)
|
|
|
NM_005908.4(MANBA):c.1830T>A (p.Asp610Glu)
|
|
|
NM_005908.4(MANBA):c.1838G>A (p.Arg613His)
|
|
|
NM_005908.4(MANBA):c.1838G>T (p.Arg613Leu)
|
|
|
NM_005908.4(MANBA):c.1850A>C (p.Asp617Ala)
|
|
|
NM_005908.4(MANBA):c.1894A>C (p.Thr632Pro)
|
|
|
NM_005908.4(MANBA):c.1904A>G (p.Glu635Gly)
|
|
|
NM_005908.4(MANBA):c.1915C>T (p.Arg639Cys)
|
|
|
NM_005908.4(MANBA):c.1942C>A (p.Gln648Lys)
|
|
|
NM_005908.4(MANBA):c.1945G>T (p.Gly649Trp)
|
rs1729796963
|
|
NM_005908.4(MANBA):c.194_214del (p.Phe65_Arg71del)
|
rs1300919851
|
|
NM_005908.4(MANBA):c.1953G>A (p.Thr651=)
|
rs886058968
|
|
NM_005908.4(MANBA):c.2018A>G (p.Tyr673Cys)
|
rs1729616711
|
|
NM_005908.4(MANBA):c.2042A>G (p.His681Arg)
|
|
|
NM_005908.4(MANBA):c.2102C>G (p.Thr701Arg)
|
rs2866413
|
|
NM_005908.4(MANBA):c.2144C>T (p.Ser715Leu)
|
|
|
NM_005908.4(MANBA):c.2167C>T (p.His723Tyr)
|
|
|
NM_005908.4(MANBA):c.2174G>C (p.Trp725Ser)
|
rs2110188789
|
|
NM_005908.4(MANBA):c.2176A>T (p.Ser726Cys)
|
|
|
NM_005908.4(MANBA):c.2201G>A (p.Arg734His)
|
rs143630504
|
|
NM_005908.4(MANBA):c.2201G>C (p.Arg734Pro)
|
|
|
NM_005908.4(MANBA):c.2212C>T (p.Arg738Cys)
|
rs763613927
|
|
NM_005908.4(MANBA):c.2269T>C (p.Leu757=)
|
rs774068992
|
|
NM_005908.4(MANBA):c.2282G>C (p.Cys761Ser)
|
rs538584064
|
|
NM_005908.4(MANBA):c.2311G>A (p.Val771Ile)
|
|
|
NM_005908.4(MANBA):c.2351C>T (p.Pro784Leu)
|
rs116340501
|
|
NM_005908.4(MANBA):c.2356A>G (p.Asn786Asp)
|
|
|
NM_005908.4(MANBA):c.2357A>G (p.Asn786Ser)
|
rs2110188500
|
|
NM_005908.4(MANBA):c.2358C>T (p.Asn786=)
|
rs767182713
|
|
NM_005908.4(MANBA):c.2363A>T (p.His788Leu)
|
rs2110188478
|
|
NM_005908.4(MANBA):c.239A>G (p.Tyr80Cys)
|
|
|
NM_005908.4(MANBA):c.2401A>C (p.Lys801Gln)
|
rs2110188388
|
|
NM_005908.4(MANBA):c.2405C>T (p.Ala802Val)
|
|
|
NM_005908.4(MANBA):c.2415+1G>C
|
rs1284324018
|
|
NM_005908.4(MANBA):c.242G>A (p.Ser81Asn)
|
rs372866446
|
|
NM_005908.4(MANBA):c.2471T>A (p.Val824Asp)
|
|
|
NM_005908.4(MANBA):c.2473G>A (p.Ala825Thr)
|
rs182869272
|
|
NM_005908.4(MANBA):c.2489T>G (p.Leu830Trp)
|
rs1729412034
|
|
NM_005908.4(MANBA):c.2516T>G (p.Phe839Cys)
|
rs1382838664
|
|
NM_005908.4(MANBA):c.2536A>C (p.Met846Leu)
|
|
|
NM_005908.4(MANBA):c.2539A>C (p.Thr847Pro)
|
rs2110185461
|
|
NM_005908.4(MANBA):c.2544_2545del (p.Lys849fs)
|
rs749997217
|
|
NM_005908.4(MANBA):c.2551C>T (p.Arg851Ter)
|
rs200999022
|
|
NM_005908.4(MANBA):c.2561T>C (p.Leu854Ser)
|
|
|
NM_005908.4(MANBA):c.2630A>G (p.Asp877Gly)
|
rs752396515
|
|
NM_005908.4(MANBA):c.280C>A (p.Gln94Lys)
|
|
|
NM_005908.4(MANBA):c.295A>G (p.Ile99Val)
|
|
|
NM_005908.4(MANBA):c.308T>C (p.Val103Ala)
|
|
|
NM_005908.4(MANBA):c.37G>A (p.Gly13Ser)
|
|
|
NM_005908.4(MANBA):c.408C>G (p.Asp136Glu)
|
rs779626922
|
|
NM_005908.4(MANBA):c.415T>C (p.Ser139Pro)
|
|
|
NM_005908.4(MANBA):c.427C>T (p.Arg143Cys)
|
|
|
NM_005908.4(MANBA):c.440C>T (p.Ala147Val)
|
|
|
NM_005908.4(MANBA):c.475A>G (p.Thr159Ala)
|
rs2110193651
|
|
NM_005908.4(MANBA):c.482A>G (p.Tyr161Cys)
|
rs939522322
|
|
NM_005908.4(MANBA):c.484C>G (p.Gln162Glu)
|
|
|
NM_005908.4(MANBA):c.487G>T (p.Val163Phe)
|
|
|
NM_005908.4(MANBA):c.492C>T (p.Pro164=)
|
rs1722640489
|
|
NM_005908.4(MANBA):c.494C>T (p.Pro165Leu)
|
rs941610876
|
|
NM_005908.4(MANBA):c.520G>T (p.Gly174Cys)
|
rs2110193570
|
|
NM_005908.4(MANBA):c.545G>A (p.Arg182Gln)
|
rs759103361
|
|
NM_005908.4(MANBA):c.55G>A (p.Ala19Thr)
|
|
|
NM_005908.4(MANBA):c.590C>G (p.Pro197Arg)
|
rs1553951373
|
|
NM_005908.4(MANBA):c.599G>C (p.Gly200Ala)
|
rs2110273623
|
|
NM_005908.4(MANBA):c.671A>G (p.Tyr224Cys)
|
|
|
NM_005908.4(MANBA):c.673+6C>A
|
|
|
NM_005908.4(MANBA):c.676A>G (p.Lys226Glu)
|
rs750030697
|
|
NM_005908.4(MANBA):c.683C>T (p.Ala228Val)
|
|
|
NM_005908.4(MANBA):c.68A>G (p.Tyr23Cys)
|
rs1724216325
|
|
NM_005908.4(MANBA):c.746G>A (p.Gly249Asp)
|
rs1732436667
|
|
NM_005908.4(MANBA):c.767C>G (p.Pro256Arg)
|
|
|
NM_005908.4(MANBA):c.77G>A (p.Arg26His)
|
rs767103860
|
|
NM_005908.4(MANBA):c.80G>A (p.Gly27Asp)
|
|
|
NM_005908.4(MANBA):c.811G>T (p.Gly271Trp)
|
|
|
NM_005908.4(MANBA):c.815A>G (p.Lys272Arg)
|
rs957064535
|
|
NM_005908.4(MANBA):c.908T>A (p.Met303Lys)
|
rs1171801333
|
|
NM_005908.4(MANBA):c.913G>A (p.Val305Ile)
|
rs939795867
|
|
NM_005908.4(MANBA):c.950A>C (p.Lys317Thr)
|
|
|
NM_005908.4(MANBA):c.952T>A (p.Ser318Thr)
|
|
|
NM_005908.4(MANBA):c.958A>C (p.Lys320Gln)
|
|
|
NM_005908.4(MANBA):c.961-8C>A
|
rs886058969
|
|
NM_005908.4(MANBA):c.973A>G (p.Thr325Ala)
|
|
|
NM_005908.4(MANBA):c.987A>G (p.Ile329Met)
|
|
|
NM_005908.4(MANBA):c.997A>G (p.Ile333Val)
|
|
|
NM_005915.6(MCM6):c.1366G>A (p.Val456Met)
|
|
|
NM_005915.6(MCM6):c.1798C>T (p.His600Tyr)
|
|
|
NM_005915.6(MCM6):c.1855C>T (p.Arg619Ter)
|
|
|
NM_006279.5(ST3GAL3):c.118+39G>T
|
rs766784665
|
|
NM_006279.5(ST3GAL3):c.348G>C (p.Lys116Asn)
|
rs1365012948
|
|
NM_006488.3(KHK):c.*11C>T
|
rs759689060
|
|
NM_006488.3(KHK):c.*159G>A
|
rs886055892
|
|
NM_006488.3(KHK):c.*176G>A
|
rs1558454561
|
|
NM_006488.3(KHK):c.*198A>C
|
rs886055893
|
|
NM_006488.3(KHK):c.*739G>C
|
rs751242318
|
|
NM_006488.3(KHK):c.-140G>A
|
rs886055884
|
|
NM_006488.3(KHK):c.112C>T (p.Gln38Ter)
|
|
|
NM_006488.3(KHK):c.15G>A (p.Gln5=)
|
rs1669712582
|
|
NM_006488.3(KHK):c.210-245C>G
|
rs202153228
|
|
NM_006488.3(KHK):c.500G>A (p.Arg167Gln)
|
rs201707861
|
|
NM_006488.3(KHK):c.557G>A (p.Gly186Glu)
|
rs886055888
|
|
NM_006488.3(KHK):c.643G>C (p.Val215Leu)
|
rs886055889
|
|
NM_006488.3(KHK):c.653+5G>A
|
rs1670622215
|
|
NM_006488.3(KHK):c.680AGG[1] (p.Glu228del)
|
rs745546639
|
|
NM_006488.3(KHK):c.826G>A (p.Glu276Lys)
|
rs761486852
|
|
NM_006516.2(SLC2A1):c.-388G>T
|
rs544483207
|
|
NM_006516.4(SLC2A1):c.*1079T>G
|
rs1426402573
|
|
NM_006516.4(SLC2A1):c.*1081T>A
|
rs886046333
|
|
NM_006516.4(SLC2A1):c.*1147G>C
|
rs886046332
|
|
NM_006516.4(SLC2A1):c.*1337A>G
|
rs113441673
|
|
NM_006516.4(SLC2A1):c.*1564C>T
|
rs1057515570
|
|
NM_006516.4(SLC2A1):c.*1611T>C
|
rs1057515457
|
|
NM_006516.4(SLC2A1):c.*216C>T
|
rs1643431578
|
|
NM_006516.4(SLC2A1):c.*92G>A
|
rs1266657991
|
|
NM_006516.4(SLC2A1):c.-202G>C
|
rs1016572946
|
|
NM_006516.4(SLC2A1):c.1006C>G (p.Leu336Val)
|
rs755946345
|
|
NM_006516.4(SLC2A1):c.1007_1009del (p.Leu336del)
|
rs587784389
|
|
NM_006516.4(SLC2A1):c.1012C>T (p.Leu338Phe)
|
|
|
NM_006516.4(SLC2A1):c.1084C>T (p.Pro362Ser)
|
|
|
NM_006516.4(SLC2A1):c.1109T>C (p.Val370Ala)
|
rs796053259
|
|
NM_006516.4(SLC2A1):c.1126G>A (p.Val376Met)
|
rs796053260
|
|
NM_006516.4(SLC2A1):c.1130C>A (p.Ala377Asp)
|
|
|
NM_006516.4(SLC2A1):c.1147C>T (p.Pro383Ser)
|
rs1643442833
|
|
NM_006516.4(SLC2A1):c.1192G>A (p.Gly398Ser)
|
rs1027810691
|
|
NM_006516.4(SLC2A1):c.121G>A (p.Glu41Lys)
|
rs769722007
|
|
NM_006516.4(SLC2A1):c.1223G>A (p.Gly408Asp)
|
rs1570590876
|
|
NM_006516.4(SLC2A1):c.1260G>A (p.Met420Ile)
|
rs2124446216
|
|
NM_006516.4(SLC2A1):c.1286G>C (p.Cys429Ser)
|
rs796053274
|
|
NM_006516.4(SLC2A1):c.132C>T (p.Tyr44=)
|
rs886046341
|
|
NM_006516.4(SLC2A1):c.1337T>A (p.Ile446Asn)
|
|
|
NM_006516.4(SLC2A1):c.1342A>G (p.Thr448Ala)
|
|
|
NM_006516.4(SLC2A1):c.1348T>A (p.Phe450Ile)
|
rs1216296247
|
|
NM_006516.4(SLC2A1):c.1408G>A (p.Gly470Arg)
|
rs572648977
|
|
NM_006516.4(SLC2A1):c.1408G>T (p.Gly470Trp)
|
rs572648977
|
|
NM_006516.4(SLC2A1):c.141A>T (p.Thr47=)
|
rs150863093
|
|
NM_006516.4(SLC2A1):c.1436C>A (p.Pro479His)
|
|
|
NM_006516.4(SLC2A1):c.1450C>T (p.His484Tyr)
|
rs2124445324
|
|
NM_006516.4(SLC2A1):c.158G>T (p.Gly53Val)
|
rs796053246
|
|
NM_006516.4(SLC2A1):c.18+5439G>T
|
rs1570607542
|
|
NM_006516.4(SLC2A1):c.218C>T (p.Ser73Phe)
|
rs1643484697
|
|
NM_006516.4(SLC2A1):c.250G>A (p.Gly84Ser)
|
|
|
NM_006516.4(SLC2A1):c.26C>T (p.Thr9Met)
|
rs1570601100
|
|
NM_006516.4(SLC2A1):c.274C>A (p.Arg92=)
|
rs202060209
|
|
NM_006516.4(SLC2A1):c.275G>A (p.Arg92Gln)
|
|
|
NM_006516.4(SLC2A1):c.279G>A (p.Arg93=)
|
rs1392755923
|
|
NM_006516.4(SLC2A1):c.313G>C (p.Val105Leu)
|
rs577667739
|
|
NM_006516.4(SLC2A1):c.411A>G (p.Thr137=)
|
rs753500924
|
|
NM_006516.4(SLC2A1):c.439G>A (p.Val147Met)
|
rs760130033
|
|
NM_006516.4(SLC2A1):c.484C>G (p.Leu162Val)
|
|
|
NM_006516.4(SLC2A1):c.517-1G>C
|
rs869312673
|
|
NM_006516.4(SLC2A1):c.523G>A (p.Gly175Ser)
|
rs1085308009
|
|
NM_006516.4(SLC2A1):c.554T>C (p.Leu185Pro)
|
rs1570592942
|
|
NM_006516.4(SLC2A1):c.586C>G (p.Pro196Ala)
|
rs2124449385
|
|
NM_006516.4(SLC2A1):c.587C>T (p.Pro196Leu)
|
rs771352226
|
|
NM_006516.4(SLC2A1):c.630T>A (p.Ser210Arg)
|
rs2124449313
|
|
NM_006516.4(SLC2A1):c.646A>G (p.Ile216Val)
|
rs2124449273
|
|
NM_006516.4(SLC2A1):c.679+3A>G
|
|
|
NM_006516.4(SLC2A1):c.679+4C>A
|
rs139492241
|
|
NM_006516.4(SLC2A1):c.73C>A (p.Gln25Lys)
|
rs1165759782
|
|
NM_006516.4(SLC2A1):c.757C>T (p.Arg253Trp)
|
rs1451575059
|
|
NM_006516.4(SLC2A1):c.75G>A (p.Gln25=)
|
rs1557651193
|
|
NM_006516.4(SLC2A1):c.763AAG[1] (p.Lys256del)
|
rs1557645931
|
|
NM_006516.4(SLC2A1):c.766_767delinsGT (p.Lys256Val)
|
rs80359822
|
|
NM_006516.4(SLC2A1):c.791G>A (p.Arg264His)
|
rs758919432
|
|
NM_006516.4(SLC2A1):c.806G>A (p.Arg269His)
|
rs1411827478
|
|
NM_006516.4(SLC2A1):c.839T>A (p.Leu280Gln)
|
|
|
NM_006516.4(SLC2A1):c.902C>G (p.Ala301Gly)
|
rs1425773776
|
|
NM_006516.4(SLC2A1):c.945C>G (p.Ile315Met)
|
rs780528770
|
|
NM_006516.4(SLC2A1):c.961A>C (p.Thr321Pro)
|
rs2124448276
|
|
NM_006618.5(KDM5B):c.1286T>G (p.Ile429Ser)
|
rs1295611134
|
|
NM_006618.5(KDM5B):c.1313T>C (p.Phe438Ser)
|
rs1656013992
|
|
NM_006618.5(KDM5B):c.1541G>A (p.Gly514Asp)
|
|
|
NM_006618.5(KDM5B):c.1795G>T (p.Ala599Ser)
|
|
|
NM_006618.5(KDM5B):c.2338A>G (p.Lys780Glu)
|
rs1244407080
|
|
NM_006618.5(KDM5B):c.2373C>G (p.Phe791Leu)
|
|
|
NM_006618.5(KDM5B):c.2524C>T (p.Leu842Phe)
|
|
|
NM_006618.5(KDM5B):c.2807A>T (p.Asp936Val)
|
rs1655336497
|
|
NM_006618.5(KDM5B):c.293G>C (p.Arg98Pro)
|
rs748231291
|
|
NM_006618.5(KDM5B):c.2986G>T (p.Glu996Ter)
|
|
|
NM_006618.5(KDM5B):c.3085-4T>G
|
|
|
NM_006618.5(KDM5B):c.4189C>T (p.Arg1397Ter)
|
|
|
NM_006618.5(KDM5B):c.4397A>G (p.His1466Arg)
|
|
|
NM_006618.5(KDM5B):c.469A>T (p.Thr157Ser)
|
|
|
NM_006618.5(KDM5B):c.602C>T (p.Thr201Ile)
|
|
|
NM_006618.5(KDM5B):c.712-4del
|
rs558975598
|
|
NM_006721.4(ADK):c.*157G>A
|
rs886047237
|
|
NM_006721.4(ADK):c.374T>C (p.Val125Ala)
|
|
|
NM_006721.4(ADK):c.441C>T (p.Asp147=)
|
rs886047236
|
|
NM_006721.4(ADK):c.494A>C (p.Lys165Thr)
|
rs1219524919
|
|
NM_006721.4(ADK):c.66-23967G>T
|
rs1842356778
|
|
NM_006721.4(ADK):c.66-24083G>C
|
rs886047233
|
|
NM_006721.4(ADK):c.66-24133G>A
|
rs1036870011
|
|
NM_006721.4(ADK):c.66-24151A>T
|
rs886047232
|
|
NM_006721.4(ADK):c.741T>A (p.Phe247Leu)
|
rs786205458
|
|
NM_006755.1(TALDO1):c.-36_-34CGC[7]
|
rs71464113
|
|
NM_006755.2(TALDO1):c.330-10_330delinsAGA
|
rs796249314
|
|
NM_006755.2(TALDO1):c.356T>C (p.Val119Ala)
|
rs1862905275
|
|
NM_006755.2(TALDO1):c.488A>G (p.His163Arg)
|
rs886048664
|
|
NM_006755.2(TALDO1):c.568G>T (p.Val190Phe)
|
|
|
NM_006755.2(TALDO1):c.784G>C (p.Glu262Gln)
|
rs1863002079
|
|
NM_006755.2(TALDO1):c.78C>G (p.Ala26=)
|
rs886048659
|
|
NM_006755.2(TALDO1):c.884G>A (p.Arg295His)
|
rs1564994861
|
|
NM_006755.2(TALDO1):c.888G>A (p.Trp296Ter)
|
rs1863010811
|
|
NM_006755.2(TALDO1):c.952G>A (p.Asp318Asn)
|
rs866261597
|
|
NM_006755.2(TALDO1):c.956C>T (p.Ala319Val)
|
rs1863012392
|
|
NM_006755.2(TALDO1):c.982-8_982-5del
|
rs773135701
|
|
NM_006765.4(TUSC3):c.116G>T (p.Gly39Val)
|
|
|
NM_006765.4(TUSC3):c.142C>A (p.Leu48Ile)
|
|
|
NM_006765.4(TUSC3):c.221G>A (p.Arg74Gln)
|
|
|
NM_006765.4(TUSC3):c.238C>G (p.Pro80Ala)
|
|
|
NM_006765.4(TUSC3):c.44G>A (p.Arg15Gln)
|
|
|
NM_006765.4(TUSC3):c.53G>A (p.Arg18Gln)
|
rs2129132447
|
|
NM_006765.4(TUSC3):c.581G>C (p.Arg194Thr)
|
|
|
NM_006765.4(TUSC3):c.670T>G (p.Phe224Val)
|
rs1807455847
|
|
NM_006765.4(TUSC3):c.85C>T (p.Leu29Phe)
|
|
|
NM_006765.4(TUSC3):c.863A>T (p.Asn288Ile)
|
|
|
NM_006765.4(TUSC3):c.868G>A (p.Ala290Thr)
|
|
|
NM_006828.4(ASCC3):c.1597-2A>G
|
|
|
NM_006828.4(ASCC3):c.5996T>C (p.Leu1999Pro)
|
|
|
NM_006859.4(LIAS):c.1037G>A (p.Gly346Asp)
|
rs1745057681
|
|
NM_006859.4(LIAS):c.1057T>C (p.Tyr353His)
|
rs1745058560
|
|
NM_006859.4(LIAS):c.1096A>C (p.Lys366Gln)
|
|
|
NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs)
|
rs1560674852
|
|
NM_006859.4(LIAS):c.1112A>T (p.Asp371Val)
|
|
|
NM_006859.4(LIAS):c.1113C>A (p.Asp371Glu)
|
rs1745219682
|
|
NM_006859.4(LIAS):c.1114C>T (p.Leu372Phe)
|
rs2109893939
|
|
NM_006859.4(LIAS):c.11G>T (p.Arg4Leu)
|
rs1401099440
|
|
NM_006859.4(LIAS):c.120G>T (p.Gln40His)
|
rs1041843537
|
|
NM_006859.4(LIAS):c.152G>A (p.Gly51Asp)
|
rs1191295540
|
|
NM_006859.4(LIAS):c.158T>A (p.Leu53His)
|
rs2109868054
|
|
NM_006859.4(LIAS):c.15C>G (p.Cys5Trp)
|
rs1473782911
|
|
NM_006859.4(LIAS):c.163G>A (p.Asp55Asn)
|
rs1744463777
|
|
NM_006859.4(LIAS):c.170G>C (p.Ser57Thr)
|
|
|
NM_006859.4(LIAS):c.173C>A (p.Thr58Asn)
|
rs141723499
|
|
NM_006859.4(LIAS):c.17G>A (p.Gly6Glu)
|
rs1744293519
|
|
NM_006859.4(LIAS):c.191G>A (p.Gly64Glu)
|
|
|
NM_006859.4(LIAS):c.1A>C (p.Met1Leu)
|
rs776691180
|
|
NM_006859.4(LIAS):c.218+4A>G
|
rs1744469769
|
|
NM_006859.4(LIAS):c.222A>C (p.Leu74Phe)
|
|
|
NM_006859.4(LIAS):c.242A>G (p.Lys81Arg)
|
rs1744535027
|
|
NM_006859.4(LIAS):c.244A>G (p.Thr82Ala)
|
rs1560666276
|
|
NM_006859.4(LIAS):c.26C>T (p.Ala9Val)
|
|
|
NM_006859.4(LIAS):c.275A>C (p.Lys92Thr)
|
|
|
NM_006859.4(LIAS):c.287C>G (p.Thr96Ser)
|
|
|
NM_006859.4(LIAS):c.28C>T (p.Arg10Cys)
|
|
|
NM_006859.4(LIAS):c.292C>T (p.Arg98Trp)
|
rs796052702
|
|
NM_006859.4(LIAS):c.298T>A (p.Leu100Ile)
|
rs1744543385
|
|
NM_006859.4(LIAS):c.301A>G (p.Asn101Asp)
|
rs886043545
|
|
NM_006859.4(LIAS):c.312A>G (p.Thr104=)
|
rs749254524
|
|
NM_006859.4(LIAS):c.313G>A (p.Val105Ile)
|
rs775744955
|
|
NM_006859.4(LIAS):c.329G>T (p.Arg110Leu)
|
rs773238728
|
|
NM_006859.4(LIAS):c.32C>G (p.Thr11Ser)
|
|
|
NM_006859.4(LIAS):c.341T>C (p.Ile114Thr)
|
|
|
NM_006859.4(LIAS):c.359G>A (p.Gly120Asp)
|
rs1183607358
|
|
NM_006859.4(LIAS):c.359_364del (p.Gly120_Gly121del)
|
|
|
NM_006859.4(LIAS):c.35T>A (p.Leu12Gln)
|
rs1436660040
|
|
NM_006859.4(LIAS):c.391A>G (p.Met131Val)
|
rs1744633174
|
|
NM_006859.4(LIAS):c.393+6G>T
|
rs2109873076
|
|
NM_006859.4(LIAS):c.393+7C>G
|
rs372423537
|
|
NM_006859.4(LIAS):c.393G>A (p.Met131Ile)
|
rs2109873042
|
|
NM_006859.4(LIAS):c.394-6T>C
|
rs1744704251
|
|
NM_006859.4(LIAS):c.399G>A (p.Met133Ile)
|
rs774320280
|
|
NM_006859.4(LIAS):c.410G>A (p.Cys137Tyr)
|
|
|
NM_006859.4(LIAS):c.419G>A (p.Gly140Asp)
|
rs1578236671
|
|
NM_006859.4(LIAS):c.433T>A (p.Ser145Thr)
|
rs1196830198
|
|
NM_006859.4(LIAS):c.44G>C (p.Arg15Pro)
|
rs184218786
|
|
NM_006859.4(LIAS):c.465_466delinsTT (p.Asp156Tyr)
|
rs2109875370
|
|
NM_006859.4(LIAS):c.475G>A (p.Glu159Lys)
|
rs1744708135
|
|
NM_006859.4(LIAS):c.485A>G (p.Asn162Ser)
|
rs1744708957
|
|
NM_006859.4(LIAS):c.499A>G (p.Ile167Val)
|
|
|
NM_006859.4(LIAS):c.4T>C (p.Ser2Pro)
|
|
|
NM_006859.4(LIAS):c.50T>C (p.Phe17Ser)
|
rs751814381
|
|
NM_006859.4(LIAS):c.511G>A (p.Gly171Ser)
|
|
|
NM_006859.4(LIAS):c.512G>A (p.Gly171Asp)
|
rs2109875475
|
|
NM_006859.4(LIAS):c.515T>C (p.Leu172Pro)
|
rs2109875481
|
|
NM_006859.4(LIAS):c.548A>G (p.Asp183Gly)
|
rs906832972
|
|
NM_006859.4(LIAS):c.550+4A>G
|
rs1560668262
|
|
NM_006859.4(LIAS):c.552T>G (p.Asp184Glu)
|
rs1744715001
|
|
NM_006859.4(LIAS):c.566_567delinsTT (p.Gly189Val)
|
|
|
NM_006859.4(LIAS):c.56G>C (p.Arg19Thr)
|
rs1744443342
|
|
NM_006859.4(LIAS):c.58T>C (p.Tyr20His)
|
|
|
NM_006859.4(LIAS):c.592T>A (p.Ser198Thr)
|
rs1553934367
|
|
NM_006859.4(LIAS):c.595T>C (p.Tyr199His)
|
rs1744716622
|
|
NM_006859.4(LIAS):c.596A>G (p.Tyr199Cys)
|
|
|
NM_006859.4(LIAS):c.5C>G (p.Ser2Cys)
|
rs372288500
|
|
NM_006859.4(LIAS):c.5C>T (p.Ser2Phe)
|
|
|
NM_006859.4(LIAS):c.604G>A (p.Glu202Lys)
|
|
|
NM_006859.4(LIAS):c.619A>G (p.Ile207Val)
|
rs765961914
|
|
NM_006859.4(LIAS):c.632G>T (p.Cys211Phe)
|
|
|
NM_006859.4(LIAS):c.638C>T (p.Thr213Ile)
|
rs1268712461
|
|
NM_006859.4(LIAS):c.643G>A (p.Asp215Asn)
|
rs1560669433
|
|
NM_006859.4(LIAS):c.657T>A (p.Asp219Glu)
|
rs1021766315
|
|
NM_006859.4(LIAS):c.659T>C (p.Leu220Pro)
|
|
|
NM_006859.4(LIAS):c.673A>G (p.Lys225Glu)
|
|
|
NM_006859.4(LIAS):c.683T>C (p.Leu228Pro)
|
rs1553934545
|
|
NM_006859.4(LIAS):c.694G>C (p.Asp232His)
|
|
|
NM_006859.4(LIAS):c.701A>T (p.Tyr234Phe)
|
rs1475625272
|
|
NM_006859.4(LIAS):c.703G>C (p.Ala235Pro)
|
rs758964059
|
|
NM_006859.4(LIAS):c.708T>G (p.His236Gln)
|
rs1057524792
|
|
NM_006859.4(LIAS):c.709A>G (p.Asn237Asp)
|
rs778212967
|
|
NM_006859.4(LIAS):c.70C>G (p.Pro24Ala)
|
rs768692068
|
|
NM_006859.4(LIAS):c.725C>G (p.Pro242Arg)
|
|
|
NM_006859.4(LIAS):c.725C>T (p.Pro242Leu)
|
rs746107734
|
|
NM_006859.4(LIAS):c.73G>C (p.Val25Leu)
|
rs1744445711
|
|
NM_006859.4(LIAS):c.748G>A (p.Asp250Asn)
|
|
|
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly)
|
rs773069554
|
|
NM_006859.4(LIAS):c.770A>G (p.Gln257Arg)
|
|
|
NM_006859.4(LIAS):c.790C>T (p.His264Tyr)
|
|
|
NM_006859.4(LIAS):c.797A>G (p.Lys266Arg)
|
rs1560671038
|
|
NM_006859.4(LIAS):c.802G>A (p.Val268Ile)
|
rs371831096
|
|
NM_006859.4(LIAS):c.807G>T (p.Gln269His)
|
rs140846573
|
|
NM_006859.4(LIAS):c.817A>G (p.Ile273Val)
|
rs1744927078
|
|
NM_006859.4(LIAS):c.827C>T (p.Thr276Ile)
|
|
|
NM_006859.4(LIAS):c.832A>C (p.Ile278Leu)
|
rs528498907
|
|
NM_006859.4(LIAS):c.833T>C (p.Ile278Thr)
|
rs1744928054
|
|
NM_006859.4(LIAS):c.869A>T (p.Tyr290Phe)
|
rs1744929854
|
|
NM_006859.4(LIAS):c.880A>G (p.Lys294Glu)
|
rs1744930458
|
|
NM_006859.4(LIAS):c.883+6G>T
|
rs934916861
|
|
NM_006859.4(LIAS):c.884-3C>A
|
rs1207306697
|
|
NM_006859.4(LIAS):c.889C>T (p.Arg297Cys)
|
rs1744968434
|
|
NM_006859.4(LIAS):c.894G>C (p.Glu298Asp)
|
rs1744968826
|
|
NM_006859.4(LIAS):c.917T>C (p.Leu306Ser)
|
rs1744970129
|
|
NM_006859.4(LIAS):c.925T>C (p.Tyr309His)
|
|
|
NM_006859.4(LIAS):c.941G>C (p.Arg314Thr)
|
rs2109884619
|
|
NM_006859.4(LIAS):c.943C>T (p.Arg315Cys)
|
rs1397998638
|
|
NM_006859.4(LIAS):c.947A>G (p.His316Arg)
|
rs1578243031
|
|
NM_006859.4(LIAS):c.954+3A>G
|
rs2109884668
|
|
NM_006859.4(LIAS):c.955-3T>G
|
|
|
NM_006895.3(HNMT):c.137+2287G>A
|
|
|
NM_006895.3(HNMT):c.317C>T (p.Ser106Leu)
|
rs755441595
|
|
NM_006895.3(HNMT):c.534C>T (p.Gly178=)
|
|
|
NM_007180.3(TREH):c.259C>A (p.Gln87Lys)
|
|
|
NM_007180.3(TREH):c.90-9_106del
|
rs527655595
|
|
NM_012096.3(APPL1):c.824G>A (p.Arg275Gln)
|
|
|
NM_012203.1(GRHPR):c.866-25CT[9]
|
rs34302950
|
|
NM_012203.2(GRHPR):c.*132T>C
|
rs1823695311
|
|
NM_012203.2(GRHPR):c.156C>G (p.Ala52=)
|
rs754532633
|
|
NM_012203.2(GRHPR):c.211G>A (p.Ala71Thr)
|
|
|
NM_012203.2(GRHPR):c.215-11C>T
|
rs796052076
|
|
NM_012203.2(GRHPR):c.265G>C (p.Ala89Pro)
|
rs1588751701
|
|
NM_012203.2(GRHPR):c.286_287+1del
|
rs750079140
|
|
NM_012203.2(GRHPR):c.308C>T (p.Thr103Ile)
|
rs761490627
|
|
NM_012203.2(GRHPR):c.344C>A (p.Ala115Glu)
|
|
|
NM_012203.2(GRHPR):c.403_404+1del
|
rs1554747007
|
|
NM_012203.2(GRHPR):c.456_464del (p.Gln153_Thr155del)
|
rs1243273371
|
|
NM_012203.2(GRHPR):c.601T>C (p.Ser201Pro)
|
rs886063930
|
|
NM_012203.2(GRHPR):c.638T>C (p.Val213Ala)
|
|
|
NM_012203.2(GRHPR):c.656C>T (p.Thr219Ile)
|
|
|
NM_012203.2(GRHPR):c.666C>G (p.Thr222=)
|
rs146227450
|
|
NM_012203.2(GRHPR):c.83+52del
|
rs35891798
|
|
NM_012203.2(GRHPR):c.84-8_84-5del
|
rs180177320
|
|
NM_012203.2(GRHPR):c.865+2dup
|
rs1218448371
|
|
NM_012203.2(GRHPR):c.867_870dup (p.Leu291fs)
|
rs1554749639
|
|
NM_012203.2(GRHPR):c.872T>C (p.Leu291Pro)
|
rs1588768370
|
|
NM_012203.2(GRHPR):c.874C>T (p.Pro292Ser)
|
rs1823674233
|
|
NM_012203.2(GRHPR):c.889G>A (p.Ala297Thr)
|
rs200632069
|
|
NM_012203.2(GRHPR):c.935dup (p.Asn312fs)
|
rs1554749668
|
|
NM_012203.2(GRHPR):c.954_955del (p.Glu320fs)
|
rs1554749672
|
|
NM_012203.2(GRHPR):c.961C>G (p.Pro321Ala)
|
|
|
NM_012203.2(GRHPR):c.964_965del (p.Met322fs)
|
rs1554749707
|
|
NM_012203.2(GRHPR):c.986A>G (p.Ter329Trp)
|
rs1554749727
|
|
NM_012434.5(SLC17A5):c.*1056A>G
|
rs938117850
|
|
NM_012434.5(SLC17A5):c.*1332T>A
|
rs886061728
|
|
NM_012434.5(SLC17A5):c.*1332del
|
rs559455789
|
|
NM_012434.5(SLC17A5):c.*1587del
|
rs886061725
|
|
NM_012434.5(SLC17A5):c.*501G>A
|
rs933119464
|
|
NM_012434.5(SLC17A5):c.*595C>G
|
rs540399289
|
|
NM_012434.5(SLC17A5):c.*666C>T
|
rs886061732
|
|
NM_012434.5(SLC17A5):c.-56C>G
|
rs886061736
|
|
NM_012434.5(SLC17A5):c.-73C>A
|
rs1769998487
|
|
NM_012434.5(SLC17A5):c.1045G>A (p.Ala349Thr)
|
rs1767808770
|
|
NM_012434.5(SLC17A5):c.1087G>A (p.Val363Ile)
|
rs2150091513
|
|
NM_012434.5(SLC17A5):c.10C>G (p.Pro4Ala)
|
|
|
NM_012434.5(SLC17A5):c.1141G>C (p.Ala381Pro)
|
|
|
NM_012434.5(SLC17A5):c.1153A>G (p.Ile385Val)
|
|
|
NM_012434.5(SLC17A5):c.1176C>T (p.Ala392=)
|
rs372195490
|
|
NM_012434.5(SLC17A5):c.1201A>G (p.Thr401Ala)
|
|
|
NM_012434.5(SLC17A5):c.1202C>T (p.Thr401Ile)
|
|
|
NM_012434.5(SLC17A5):c.1250T>C (p.Ile417Thr)
|
|
|
NM_012434.5(SLC17A5):c.1259+3G>A
|
|
|
NM_012434.5(SLC17A5):c.1260G>C (p.Ser420=)
|
rs760766672
|
|
NM_012434.5(SLC17A5):c.1278G>T (p.Leu426=)
|
rs1167569087
|
|
NM_012434.5(SLC17A5):c.127G>A (p.Ala43Thr)
|
rs545973
|
|
NM_012434.5(SLC17A5):c.130A>G (p.Ile44Val)
|
|
|
NM_012434.5(SLC17A5):c.1327dup (p.Ile443fs)
|
rs1554160766
|
|
NM_012434.5(SLC17A5):c.1349A>G (p.Asp450Gly)
|
|
|
NM_012434.5(SLC17A5):c.1351-2A>G
|
rs1554160244
|
|
NM_012434.5(SLC17A5):c.1352A>G (p.Asn451Ser)
|
|
|
NM_012434.5(SLC17A5):c.1355C>G (p.Thr452Ser)
|
|
|
NM_012434.5(SLC17A5):c.1358T>G (p.Val453Gly)
|
rs886061735
|
|
NM_012434.5(SLC17A5):c.1367G>A (p.Trp456Ter)
|
rs1554160239
|
|
NM_012434.5(SLC17A5):c.1369C>T (p.Gln457Ter)
|
|
|
NM_012434.5(SLC17A5):c.1375G>A (p.Val459Met)
|
|
|
NM_012434.5(SLC17A5):c.1417_1427del (p.Phe473fs)
|
rs1554160223
|
|
NM_012434.5(SLC17A5):c.1419C>G (p.Phe473Leu)
|
|
|
NM_012434.5(SLC17A5):c.1462_1464del (p.Asn488del)
|
|
|
NM_012434.5(SLC17A5):c.1479_1480del (p.His493fs)
|
rs1554160206
|
|
NM_012434.5(SLC17A5):c.1479dup (p.Arg494fs)
|
rs1554160209
|
|
NM_012434.5(SLC17A5):c.197A>G (p.Asp66Gly)
|
|
|
NM_012434.5(SLC17A5):c.229A>G (p.Asn77Asp)
|
|
|
NM_012434.5(SLC17A5):c.22C>G (p.Leu8Val)
|
|
|
NM_012434.5(SLC17A5):c.233G>C (p.Arg78Thr)
|
|
|
NM_012434.5(SLC17A5):c.244G>C (p.Ala82Pro)
|
rs199727701
|
|
NM_012434.5(SLC17A5):c.262G>C (p.Ala88Pro)
|
|
|
NM_012434.5(SLC17A5):c.266C>A (p.Pro89His)
|
|
|
NM_012434.5(SLC17A5):c.275T>C (p.Val92Ala)
|
rs2150120727
|
|
NM_012434.5(SLC17A5):c.290C>T (p.Thr97Met)
|
|
|
NM_012434.5(SLC17A5):c.310G>A (p.Asp104Asn)
|
rs2150118480
|
|
NM_012434.5(SLC17A5):c.35A>G (p.Asp12Gly)
|
|
|
NM_012434.5(SLC17A5):c.36T>A (p.Asp12Glu)
|
|
|
NM_012434.5(SLC17A5):c.373C>T (p.Pro125Ser)
|
|
|
NM_012434.5(SLC17A5):c.388G>A (p.Ala130Thr)
|
rs201070520
|
|
NM_012434.5(SLC17A5):c.401G>T (p.Gly134Val)
|
|
|
NM_012434.5(SLC17A5):c.413T>C (p.Leu138Pro)
|
|
|
NM_012434.5(SLC17A5):c.421T>C (p.Phe141Leu)
|
|
|
NM_012434.5(SLC17A5):c.494T>C (p.Ile165Thr)
|
|
|
NM_012434.5(SLC17A5):c.505G>C (p.Ala169Pro)
|
|
|
NM_012434.5(SLC17A5):c.50C>T (p.Thr17Met)
|
rs2150128046
|
|
NM_012434.5(SLC17A5):c.512_514del (p.Glu171del)
|
rs2150118267
|
|
NM_012434.5(SLC17A5):c.525+3A>G
|
|
|
NM_012434.5(SLC17A5):c.544A>T (p.Met182Leu)
|
rs1454840237
|
|
NM_012434.5(SLC17A5):c.55C>T (p.Arg19Cys)
|
|
|
NM_012434.5(SLC17A5):c.578T>C (p.Leu193Pro)
|
|
|
NM_012434.5(SLC17A5):c.586A>G (p.Ser196Gly)
|
|
|
NM_012434.5(SLC17A5):c.590A>G (p.Lys197Arg)
|
|
|
NM_012434.5(SLC17A5):c.680C>A (p.Thr227Asn)
|
|
|
NM_012434.5(SLC17A5):c.680C>G (p.Thr227Ser)
|
rs2150113556
|
|
NM_012434.5(SLC17A5):c.719G>T (p.Trp240Leu)
|
rs386833993
|
|
NM_012434.5(SLC17A5):c.758A>G (p.Gln253Arg)
|
|
|
NM_012434.5(SLC17A5):c.760A>G (p.Lys254Glu)
|
|
|
NM_012434.5(SLC17A5):c.776C>T (p.Ser259Phe)
|
rs149340734
|
|
NM_012434.5(SLC17A5):c.786A>C (p.Glu262Asp)
|
rs1768948534
|
|
NM_012434.5(SLC17A5):c.818A>G (p.Gln273Arg)
|
rs761959120
|
|
NM_012434.5(SLC17A5):c.837_842dup (p.Val280_Pro281dup)
|
rs1554162837
|
|
NM_012434.5(SLC17A5):c.880A>C (p.Ile294Leu)
|
|
|
NM_013995.2(LAMP2):c.-168dup
|
rs760941179
|
|
NM_014026.6(DCPS):c.791G>T (p.Arg264Leu)
|
rs140377449
|
|
NM_014026.6(DCPS):c.918G>C (p.Glu306Asp)
|
rs1215363009
|
|
NM_014168.4(METTL5):c.406+5G>A
|
rs2105721464
|
|
NM_014168.4(METTL5):c.43C>T (p.Gln15Ter)
|
rs1247557050
|
|
NM_014226.3(MOK):c.630_631dup (p.Ile211fs)
|
rs769431982
|
|
NM_014415.4(ZBTB11):c.1999C>T (p.Arg667Ter)
|
|
|
NM_014415.4(ZBTB11):c.799C>T (p.Leu267Phe)
|
rs1436155983
|
|
NM_014806.5(RUSC2):c.1525G>C (p.Val509Leu)
|
|
|
NM_014806.5(RUSC2):c.1538C>T (p.Ser513Leu)
|
|
|
NM_014806.5(RUSC2):c.380C>T (p.Thr127Ile)
|
rs762004622
|
|
NM_014806.5(RUSC2):c.3877C>T (p.Arg1293Cys)
|
rs1563876680
|
|
NM_014806.5(RUSC2):c.567C>A (p.His189Gln)
|
rs1030373633
|
|
NM_014806.5(RUSC2):c.61C>T (p.His21Tyr)
|
rs1821748484
|
|
NM_015028.4(TNIK):c.1633C>T (p.Arg545Trp)
|
|
|
NM_015028.4(TNIK):c.2724G>T (p.Thr908=)
|
rs377530882
|
|
NM_015028.4(TNIK):c.2729G>A (p.Gly910Glu)
|
rs35090763
|
|
NM_015028.4(TNIK):c.2737A>C (p.Lys913Gln)
|
rs1340420482
|
|
NM_015275.3(WASHC4):c.1643A>G (p.Asn548Ser)
|
|
|
NM_015275.3(WASHC4):c.1731del (p.Pro579fs)
|
|
|
NM_015275.3(WASHC4):c.3420G>A (p.Ala1140=)
|
|
|
NM_015275.3(WASHC4):c.971T>C (p.Leu324Ser)
|
rs1881275367
|
|
NM_015957.4(APIP):c.-14C>T
|
rs886048245
|
|
NM_015957.4(APIP):c.57+57C>G
|
rs988171497
|
|
NM_015981.4(CAMK2A):c.816G>A (p.Ser272=)
|
rs2150279471
|
|
NM_016042.4(EXOSC3):c.*242A>C
|
rs1828556271
|
|
NM_016042.4(EXOSC3):c.*354C>A
|
rs530037792
|
|
NM_016042.4(EXOSC3):c.*354C>G
|
rs530037792
|
|
NM_016042.4(EXOSC3):c.*419A>G
|
rs1828546518
|
|
NM_016042.4(EXOSC3):c.*582A>C
|
rs886063932
|
|
NM_016042.4(EXOSC3):c.*812T>G
|
rs886063931
|
|
NM_016042.4(EXOSC3):c.11C>T (p.Pro4Leu)
|
rs372128042
|
|
NM_016042.4(EXOSC3):c.13G>T (p.Ala5Ser)
|
rs549030188
|
|
NM_016042.4(EXOSC3):c.155C>A (p.Pro52Gln)
|
|
|
NM_016042.4(EXOSC3):c.17C>T (p.Ser6Phe)
|
rs749691951
|
|
NM_016042.4(EXOSC3):c.202G>T (p.Gly68Cys)
|
rs745785017
|
|
NM_016042.4(EXOSC3):c.209G>A (p.Gly70Asp)
|
|
|
NM_016042.4(EXOSC3):c.221G>C (p.Cys74Ser)
|
|
|
NM_016042.4(EXOSC3):c.251G>T (p.Gly84Val)
|
rs2118981494
|
|
NM_016042.4(EXOSC3):c.259C>A (p.Arg87Ser)
|
rs1404319370
|
|
NM_016042.4(EXOSC3):c.285CGG[2] (p.Gly98del)
|
|
|
NM_016042.4(EXOSC3):c.311C>A (p.Ser104Tyr)
|
|
|
NM_016042.4(EXOSC3):c.347A>G (p.His116Arg)
|
|
|
NM_016042.4(EXOSC3):c.352A>G (p.Ile118Val)
|
|
|
NM_016042.4(EXOSC3):c.361G>A (p.Val121Met)
|
rs145622193
|
|
NM_016042.4(EXOSC3):c.368C>G (p.Ala123Gly)
|
rs2118980284
|
|
NM_016042.4(EXOSC3):c.377G>C (p.Gly126Ala)
|
|
|
NM_016042.4(EXOSC3):c.37G>A (p.Ala13Thr)
|
rs758230758
|
|
NM_016042.4(EXOSC3):c.388A>C (p.Lys130Gln)
|
rs373193552
|
|
NM_016042.4(EXOSC3):c.403G>A (p.Gly135Arg)
|
rs1828647523
|
|
NM_016042.4(EXOSC3):c.42C>T (p.Gly14=)
|
rs1828679645
|
|
NM_016042.4(EXOSC3):c.491A>G (p.Tyr164Cys)
|
|
|
NM_016042.4(EXOSC3):c.52_53delinsTC (p.Arg18Ser)
|
|
|
NM_016042.4(EXOSC3):c.5C>T (p.Ala2Val)
|
rs754046728
|
|
NM_016042.4(EXOSC3):c.61C>T (p.Arg21Cys)
|
|
|
NM_016042.4(EXOSC3):c.671T>A (p.Leu224His)
|
|
|
NM_016042.4(EXOSC3):c.674A>G (p.Tyr225Cys)
|
|
|
NM_016042.4(EXOSC3):c.680T>C (p.Leu227Pro)
|
|
|
NM_016042.4(EXOSC3):c.691T>G (p.Phe231Val)
|
|
|
NM_016042.4(EXOSC3):c.709A>C (p.Ile237Leu)
|
rs140199968
|
|
NM_016042.4(EXOSC3):c.709A>G (p.Ile237Val)
|
rs140199968
|
|
NM_016042.4(EXOSC3):c.736_737delinsAC (p.Gln246Thr)
|
rs2118975671
|
|
NM_016042.4(EXOSC3):c.743T>C (p.Leu248Ser)
|
rs561283125
|
|
NM_016042.4(EXOSC3):c.785C>T (p.Ser262Leu)
|
rs767942736
|
|
NM_016042.4(EXOSC3):c.797A>G (p.Lys266Arg)
|
|
|
NM_016042.4(EXOSC3):c.7G>A (p.Glu3Lys)
|
|
|
NM_016042.4(EXOSC3):c.808_810del (p.Ser270del)
|
rs755175121
|
|
NM_016042.4(EXOSC3):c.813del (p.Arg271fs)
|
|
|
NM_016042.4(EXOSC3):c.822_*6del (p.Glu274fs)
|
rs1828567719
|
|
NM_016203.3(PRKAG2):c.-517G>T
|
rs886062107
|
|
NM_016203.3(PRKAG2):c.-575C>T
|
rs886062108
|
|
NM_016203.3(PRKAG2):c.-580C>T
|
rs886062109
|
|
NM_016203.3(PRKAG2):c.1053_1067delGCTTTATTTACAAGA
|
rs1584964948
|
|
NM_016203.4(PRKAG2):c.*1021_*1022delinsGT
|
rs886062094
|
|
NM_016203.4(PRKAG2):c.*1029dup
|
rs1554444891
|
|
NM_016203.4(PRKAG2):c.*1040del
|
rs56898021
|
|
NM_016203.4(PRKAG2):c.*1040dup
|
rs56898021
|
|
NM_016203.4(PRKAG2):c.*1041dup
|
rs886062093
|
|
NM_016203.4(PRKAG2):c.*350C>A
|
rs886062099
|
|
NM_016203.4(PRKAG2):c.*896del
|
rs532079387
|
|
NM_016203.4(PRKAG2):c.-274C>A
|
rs886062104
|
|
NM_016203.4(PRKAG2):c.-351G>A
|
rs886062105
|
|
NM_016203.4(PRKAG2):c.1005+6T>C
|
rs1554464077
|
|
NM_016203.4(PRKAG2):c.1006G>A (p.Val336Ile)
|
rs727504707
|
|
NM_016203.4(PRKAG2):c.1015T>A (p.Tyr339Asn)
|
rs1807867041
|
|
NM_016203.4(PRKAG2):c.1024G>A (p.Glu342Lys)
|
rs2151024095
|
|
NM_016203.4(PRKAG2):c.1031A>G (p.His344Arg)
|
rs2151024054
|
|
NM_016203.4(PRKAG2):c.1040A>G (p.Glu347Gly)
|
rs760258924
|
|
NM_016203.4(PRKAG2):c.1049G>A (p.Arg350Lys)
|
rs1330644534
|
|
NM_016203.4(PRKAG2):c.1050G>A (p.Arg350=)
|
rs2151023937
|
|
NM_016203.4(PRKAG2):c.1051+6C>G
|
|
|
NM_016203.4(PRKAG2):c.1051_1051+2dup
|
rs2151023914
|
|
NM_016203.4(PRKAG2):c.1055T>C (p.Leu352Pro)
|
|
|
NM_016203.4(PRKAG2):c.1058A>G (p.Tyr353Cys)
|
rs1554459431
|
|
NM_016203.4(PRKAG2):c.1060T>G (p.Leu354Val)
|
rs1554459423
|
|
NM_016203.4(PRKAG2):c.1070C>T (p.Thr357Ile)
|
rs1227002684
|
|
NM_016203.4(PRKAG2):c.107A>G (p.His36Arg)
|
rs2080409943
|
|
NM_016203.4(PRKAG2):c.1100A>G (p.Asp367Gly)
|
rs1807219152
|
|
NM_016203.4(PRKAG2):c.1102G>T (p.Ala368Ser)
|
rs769212614
|
|
NM_016203.4(PRKAG2):c.1106+4A>C
|
rs912304170
|
|
NM_016203.4(PRKAG2):c.1107-3C>T
|
rs2151008803
|
|
NM_016203.4(PRKAG2):c.1108C>T (p.Leu370Phe)
|
|
|
NM_016203.4(PRKAG2):c.1114G>C (p.Asp372His)
|
rs760826751
|
|
NM_016203.4(PRKAG2):c.114+3G>A
|
rs2151920361
|
|
NM_016203.4(PRKAG2):c.114G>C (p.Pro38=)
|
rs397517261
|
|
NM_016203.4(PRKAG2):c.1164T>G (p.Ile388Met)
|
|
|
NM_016203.4(PRKAG2):c.1169C>T (p.Pro390Leu)
|
rs2151008453
|
|
NM_016203.4(PRKAG2):c.1183G>C (p.Ala395Pro)
|
|
|
NM_016203.4(PRKAG2):c.1184C>T (p.Ala395Val)
|
rs1806859703
|
|
NM_016203.4(PRKAG2):c.1198A>G (p.Thr400Ala)
|
rs1554457901
|
|
NM_016203.4(PRKAG2):c.119T>C (p.Leu40Pro)
|
|
|
NM_016203.4(PRKAG2):c.11C>T (p.Ala4Val)
|
rs2151920498
|
|
NM_016203.4(PRKAG2):c.1233+1G>C
|
|
|
NM_016203.4(PRKAG2):c.1247C>T (p.Pro416Leu)
|
|
|
NM_016203.4(PRKAG2):c.125C>T (p.Ser42Phe)
|
|
|
NM_016203.4(PRKAG2):c.1279G>A (p.Glu427Lys)
|
rs1806121695
|
|
NM_016203.4(PRKAG2):c.1289T>C (p.Ile430Thr)
|
|
|
NM_016203.4(PRKAG2):c.1289T>G (p.Ile430Arg)
|
|
|
NM_016203.4(PRKAG2):c.1294A>G (p.Thr432Ala)
|
rs2150996293
|
|
NM_016203.4(PRKAG2):c.129C>A (p.Phe43Leu)
|
|
|
NM_016203.4(PRKAG2):c.1306A>G (p.Ile436Val)
|
|
|
NM_016203.4(PRKAG2):c.1310C>G (p.Ala437Gly)
|
rs762111172
|
|
NM_016203.4(PRKAG2):c.1319A>G (p.His440Arg)
|
rs1806111411
|
|
NM_016203.4(PRKAG2):c.1333A>G (p.Ile445Val)
|
rs1344209675
|
|
NM_016203.4(PRKAG2):c.1337T>G (p.Ile446Ser)
|
rs1554455087
|
|
NM_016203.4(PRKAG2):c.1340A>G (p.Lys447Arg)
|
|
|
NM_016203.4(PRKAG2):c.134T>A (p.Met45Lys)
|
|
|
NM_016203.4(PRKAG2):c.1355T>C (p.Phe452Ser)
|
|
|
NM_016203.4(PRKAG2):c.1358T>C (p.Val453Ala)
|
|
|
NM_016203.4(PRKAG2):c.1366C>G (p.Arg456Gly)
|
rs779098740
|
|
NM_016203.4(PRKAG2):c.1372T>G (p.Ser458Ala)
|
rs1554455000
|
|
NM_016203.4(PRKAG2):c.1378C>G (p.Leu460Val)
|
rs878855018
|
|
NM_016203.4(PRKAG2):c.1392T>A (p.Asp464Glu)
|
rs2150995495
|
|
NM_016203.4(PRKAG2):c.1393G>A (p.Glu465Lys)
|
|
|
NM_016203.4(PRKAG2):c.1395_1396del (p.Glu465fs)
|
|
|
NM_016203.4(PRKAG2):c.1407_1408delinsGA (p.Val470Ile)
|
rs1806009426
|
|
NM_016203.4(PRKAG2):c.1420T>G (p.Ser474Ala)
|
rs1806007620
|
|
NM_016203.4(PRKAG2):c.1436T>C (p.Ile479Thr)
|
rs1806004431
|
|
NM_016203.4(PRKAG2):c.1437+6T>C
|
|
|
NM_016203.4(PRKAG2):c.1444G>A (p.Ala482Thr)
|
rs2150988951
|
|
NM_016203.4(PRKAG2):c.145G>A (p.Asp49Asn)
|
|
|
NM_016203.4(PRKAG2):c.1460A>G (p.Tyr487Cys)
|
rs1805709675
|
|
NM_016203.4(PRKAG2):c.1466del (p.Asn489fs)
|
rs1584934953
|
|
NM_016203.4(PRKAG2):c.1471G>C (p.Asp491His)
|
rs730880981
|
|
NM_016203.4(PRKAG2):c.1472A>G (p.Asp491Gly)
|
|
|
NM_016203.4(PRKAG2):c.147C>A (p.Asp49Glu)
|
rs761196275
|
|
NM_016203.4(PRKAG2):c.1480G>T (p.Val494Leu)
|
|
|
NM_016203.4(PRKAG2):c.1498C>T (p.His500Tyr)
|
rs1584934806
|
|
NM_016203.4(PRKAG2):c.1534A>C (p.Asn512His)
|
|
|
NM_016203.4(PRKAG2):c.1535A>G (p.Asn512Ser)
|
rs766113743
|
|
NM_016203.4(PRKAG2):c.1535A>T (p.Asn512Ile)
|
rs766113743
|
|
NM_016203.4(PRKAG2):c.1545A>T (p.Glu515Asp)
|
rs2150988575
|
|
NM_016203.4(PRKAG2):c.154C>G (p.Leu52Val)
|
|
|
NM_016203.4(PRKAG2):c.1555A>G (p.Thr519Ala)
|
rs1060503024
|
|
NM_016203.4(PRKAG2):c.1564G>A (p.Asp522Asn)
|
rs199985555
|
|
NM_016203.4(PRKAG2):c.1565A>G (p.Asp522Gly)
|
rs2150988481
|
|
NM_016203.4(PRKAG2):c.1571T>G (p.Ile524Arg)
|
rs1563141020
|
|
NM_016203.4(PRKAG2):c.1574T>A (p.Val525Glu)
|
|
|
NM_016203.4(PRKAG2):c.157G>A (p.Glu53Lys)
|
|
|
NM_016203.4(PRKAG2):c.1584+3G>A
|
|
|
NM_016203.4(PRKAG2):c.1603G>A (p.Val535Ile)
|
|
|
NM_016203.4(PRKAG2):c.1615G>A (p.Asp539Asn)
|
rs1804709862
|
|
NM_016203.4(PRKAG2):c.1625T>C (p.Val542Ala)
|
|
|
NM_016203.4(PRKAG2):c.1631T>C (p.Ile544Thr)
|
rs1804703888
|
|
NM_016203.4(PRKAG2):c.1639C>G (p.Leu547Val)
|
|
|
NM_016203.4(PRKAG2):c.1642T>A (p.Ser548Thr)
|
rs267606979
|
|
NM_016203.4(PRKAG2):c.1642T>C (p.Ser548Pro)
|
rs267606979
|
|
NM_016203.4(PRKAG2):c.1663A>T (p.Ile555Phe)
|
rs1563131128
|
|
NM_016203.4(PRKAG2):c.1666C>G (p.Leu556Val)
|
|
|
NM_016203.4(PRKAG2):c.1678+5A>G
|
rs1804692531
|
|
NM_016203.4(PRKAG2):c.1679-1G>A
|
rs1563120287
|
|
NM_016203.4(PRKAG2):c.1681G>A (p.Ala561Thr)
|
rs61744760
|
|
NM_016203.4(PRKAG2):c.1681G>C (p.Ala561Pro)
|
rs61744760
|
|
NM_016203.4(PRKAG2):c.1705G>A (p.Glu569Lys)
|
rs730880983
|
|
NM_016203.4(PRKAG2):c.1708T>G (p.Ter570Gly)
|
rs2150957786
|
|
NM_016203.4(PRKAG2):c.182G>T (p.Arg61Leu)
|
|
|
NM_016203.4(PRKAG2):c.186+3A>G
|
|
|
NM_016203.4(PRKAG2):c.186+4A>C
|
|
|
NM_016203.4(PRKAG2):c.187G>A (p.Val63Met)
|
rs1288414866
|
|
NM_016203.4(PRKAG2):c.196C>T (p.Pro66Ser)
|
rs764915841
|
|
NM_016203.4(PRKAG2):c.1A>G (p.Met1Val)
|
|
|
NM_016203.4(PRKAG2):c.211A>C (p.Ser71Arg)
|
rs2151803809
|
|
NM_016203.4(PRKAG2):c.224G>A (p.Gly75Glu)
|
rs199963585
|
|
NM_016203.4(PRKAG2):c.233_234insTCC (p.Ser78_Arg79insPro)
|
|
|
NM_016203.4(PRKAG2):c.235A>G (p.Arg79Gly)
|
|
|
NM_016203.4(PRKAG2):c.238G>A (p.Gly80Ser)
|
|
|
NM_016203.4(PRKAG2):c.245A>G (p.Gln82Arg)
|
rs368871685
|
|
NM_016203.4(PRKAG2):c.254C>A (p.Pro85His)
|
|
|
NM_016203.4(PRKAG2):c.254C>T (p.Pro85Leu)
|
|
|
NM_016203.4(PRKAG2):c.263C>T (p.Pro88Leu)
|
|
|
NM_016203.4(PRKAG2):c.269C>T (p.Ser90Phe)
|
rs2076657636
|
|
NM_016203.4(PRKAG2):c.26A>T (p.Lys9Met)
|
rs574029693
|
|
NM_016203.4(PRKAG2):c.314T>C (p.Val105Ala)
|
|
|
NM_016203.4(PRKAG2):c.326_328del (p.Ser109del)
|
rs2076654551
|
|
NM_016203.4(PRKAG2):c.32A>T (p.Lys11Ile)
|
rs1060503025
|
|
NM_016203.4(PRKAG2):c.331C>G (p.Gln111Glu)
|
|
|
NM_016203.4(PRKAG2):c.335A>G (p.Glu112Gly)
|
rs1563659108
|
|
NM_016203.4(PRKAG2):c.341C>G (p.Pro114Arg)
|
rs375174733
|
|
NM_016203.4(PRKAG2):c.341C>T (p.Pro114Leu)
|
rs375174733
|
|
NM_016203.4(PRKAG2):c.352C>T (p.Pro118Ser)
|
rs1554596200
|
|
NM_016203.4(PRKAG2):c.358C>T (p.Arg120Cys)
|
rs763144065
|
|
NM_016203.4(PRKAG2):c.359G>C (p.Arg120Pro)
|
rs775756069
|
|
NM_016203.4(PRKAG2):c.386C>T (p.Ser129Phe)
|
rs2151803284
|
|
NM_016203.4(PRKAG2):c.388del (p.Ser130fs)
|
|
|
NM_016203.4(PRKAG2):c.392C>T (p.Ser131Phe)
|
|
|
NM_016203.4(PRKAG2):c.406C>T (p.Pro136Ser)
|
rs1386603764
|
|
NM_016203.4(PRKAG2):c.416A>G (p.Asn139Ser)
|
rs1042047141
|
|
NM_016203.4(PRKAG2):c.424A>G (p.Thr142Ala)
|
rs2076650288
|
|
NM_016203.4(PRKAG2):c.43T>C (p.Ser15Pro)
|
rs1563775284
|
|
NM_016203.4(PRKAG2):c.44C>T (p.Ser15Phe)
|
|
|
NM_016203.4(PRKAG2):c.458C>G (p.Ser153Cys)
|
rs1586486518
|
|
NM_016203.4(PRKAG2):c.466+18T>C
|
|
|
NM_016203.4(PRKAG2):c.466+1G>A
|
rs1563658309
|
|
NM_016203.4(PRKAG2):c.466+1G>C
|
|
|
NM_016203.4(PRKAG2):c.466+6A>G
|
rs2076648193
|
|
NM_016203.4(PRKAG2):c.467-2A>T
|
rs1554531076
|
|
NM_016203.4(PRKAG2):c.469_471dup (p.Ser157dup)
|
rs1832797348
|
|
NM_016203.4(PRKAG2):c.473G>A (p.Gly158Asp)
|
rs1832796232
|
|
NM_016203.4(PRKAG2):c.477CTC[2] (p.Ser162del)
|
rs1002236859
|
|
NM_016203.4(PRKAG2):c.485C>T (p.Ser162Phe)
|
rs779526669
|
|
NM_016203.4(PRKAG2):c.496C>T (p.Pro166Ser)
|
|
|
NM_016203.4(PRKAG2):c.52G>T (p.Gly18Cys)
|
|
|
NM_016203.4(PRKAG2):c.532G>A (p.Glu178Lys)
|
rs397517273
|
|
NM_016203.4(PRKAG2):c.53del (p.Gly18fs)
|
|
|
NM_016203.4(PRKAG2):c.547G>C (p.Glu183Gln)
|
rs1131692281
|
|
NM_016203.4(PRKAG2):c.550C>G (p.Pro184Ala)
|
rs545533727
|
|
NM_016203.4(PRKAG2):c.556C>T (p.Arg186Trp)
|
rs200392688
|
|
NM_016203.4(PRKAG2):c.557G>T (p.Arg186Leu)
|
rs145006140
|
|
NM_016203.4(PRKAG2):c.562G>A (p.Glu188Lys)
|
rs772303730
|
|
NM_016203.4(PRKAG2):c.562G>C (p.Glu188Gln)
|
rs772303730
|
|
NM_016203.4(PRKAG2):c.566A>G (p.Asn189Ser)
|
rs2151477098
|
|
NM_016203.4(PRKAG2):c.568C>A (p.Arg190Ser)
|
rs202200501
|
|
NM_016203.4(PRKAG2):c.568C>T (p.Arg190Cys)
|
|
|
NM_016203.4(PRKAG2):c.569G>T (p.Arg190Leu)
|
rs551795395
|
|
NM_016203.4(PRKAG2):c.583T>G (p.Ser195Ala)
|
rs2151477004
|
|
NM_016203.4(PRKAG2):c.590C>G (p.Pro197Arg)
|
rs368637364
|
|
NM_016203.4(PRKAG2):c.593del (p.Pro198fs)
|
|
|
NM_016203.4(PRKAG2):c.593dup (p.Asp199fs)
|
rs397517275
|
|
NM_016203.4(PRKAG2):c.602G>A (p.Gly201Glu)
|
rs1554530705
|
|
NM_016203.4(PRKAG2):c.619_636del (p.Ser207_Pro212del)
|
rs2151476689
|
|
NM_016203.4(PRKAG2):c.620C>G (p.Ser207Cys)
|
rs397517277
|
|
NM_016203.4(PRKAG2):c.622T>A (p.Ser208Thr)
|
rs1554530665
|
|
NM_016203.4(PRKAG2):c.638C>T (p.Thr213Ile)
|
|
|
NM_016203.4(PRKAG2):c.641G>A (p.Arg214Lys)
|
rs781267213
|
|
NM_016203.4(PRKAG2):c.661A>G (p.Thr221Ala)
|
rs1832761436
|
|
NM_016203.4(PRKAG2):c.665A>G (p.His222Arg)
|
rs1289045435
|
|
NM_016203.4(PRKAG2):c.665A>T (p.His222Leu)
|
|
|
NM_016203.4(PRKAG2):c.670G>A (p.Ala224Thr)
|
|
|
NM_016203.4(PRKAG2):c.682G>T (p.Ala228Ser)
|
rs2151476444
|
|
NM_016203.4(PRKAG2):c.684+1G>C
|
|
|
NM_016203.4(PRKAG2):c.685-3C>A
|
|
|
NM_016203.4(PRKAG2):c.685-6C>A
|
rs772481251
|
|
NM_016203.4(PRKAG2):c.686C>T (p.Ala229Val)
|
|
|
NM_016203.4(PRKAG2):c.689C>T (p.Ala230Val)
|
rs1554507908
|
|
NM_016203.4(PRKAG2):c.693GGC[4] (p.Ala234dup)
|
rs878855020
|
|
NM_016203.4(PRKAG2):c.695C>T (p.Ala232Val)
|
rs1338523761
|
|
NM_016203.4(PRKAG2):c.698C>A (p.Ala233Glu)
|
rs201240745
|
|
NM_016203.4(PRKAG2):c.698C>T (p.Ala233Val)
|
|
|
NM_016203.4(PRKAG2):c.706G>C (p.Gly236Arg)
|
rs1183522324
|
|
NM_016203.4(PRKAG2):c.709C>T (p.Pro237Ser)
|
|
|
NM_016203.4(PRKAG2):c.715G>A (p.Glu239Lys)
|
rs1271179381
|
|
NM_016203.4(PRKAG2):c.717A>C (p.Glu239Asp)
|
|
|
NM_016203.4(PRKAG2):c.719C>A (p.Ala240Asp)
|
|
|
NM_016203.4(PRKAG2):c.719C>T (p.Ala240Val)
|
rs1824657994
|
|
NM_016203.4(PRKAG2):c.721G>C (p.Gly241Arg)
|
rs765544988
|
|
NM_016203.4(PRKAG2):c.727C>G (p.Leu243Val)
|
rs543247293
|
|
NM_016203.4(PRKAG2):c.733A>C (p.Lys245Gln)
|
rs2151325092
|
|
NM_016203.4(PRKAG2):c.739G>A (p.Glu247Lys)
|
rs397517281
|
|
NM_016203.4(PRKAG2):c.740A>G (p.Glu247Gly)
|
rs1824644597
|
|
NM_016203.4(PRKAG2):c.745G>A (p.Glu249Lys)
|
|
|
NM_016203.4(PRKAG2):c.745G>C (p.Glu249Gln)
|
rs1585369730
|
|
NM_016203.4(PRKAG2):c.748G>A (p.Asp250Asn)
|
|
|
NM_016203.4(PRKAG2):c.758T>C (p.Val253Ala)
|
|
|
NM_016203.4(PRKAG2):c.778_781dup (p.Tyr261fs)
|
rs1585114507
|
|
NM_016203.4(PRKAG2):c.785T>C (p.Met262Thr)
|
|
|
NM_016203.4(PRKAG2):c.787C>A (p.Arg263=)
|
rs886062100
|
|
NM_016203.4(PRKAG2):c.788G>A (p.Arg263Gln)
|
|
|
NM_016203.4(PRKAG2):c.813T>A (p.Tyr271Ter)
|
rs1814236823
|
|
NM_016203.4(PRKAG2):c.815A>C (p.Asp272Ala)
|
|
|
NM_016203.4(PRKAG2):c.83A>G (p.Gln28Arg)
|
rs1164114205
|
|
NM_016203.4(PRKAG2):c.865G>A (p.Val289Ile)
|
rs397517282
|
|
NM_016203.4(PRKAG2):c.865G>C (p.Val289Leu)
|
rs397517282
|
|
NM_016203.4(PRKAG2):c.870_876del (p.Lys290fs)
|
|
|
NM_016203.4(PRKAG2):c.893C>T (p.Ala298Val)
|
rs730880976
|
|
NM_016203.4(PRKAG2):c.896A>G (p.Asn299Ser)
|
|
|
NM_016203.4(PRKAG2):c.898G>A (p.Gly300Ser)
|
|
|
NM_016203.4(PRKAG2):c.8G>A (p.Ser3Asn)
|
|
|
NM_016203.4(PRKAG2):c.911C>G (p.Ala304Gly)
|
rs1808933429
|
|
NM_016203.4(PRKAG2):c.912G>A (p.Ala304=)
|
rs145029525
|
|
NM_016203.4(PRKAG2):c.91C>G (p.Arg31Gly)
|
|
|
NM_016203.4(PRKAG2):c.928A>G (p.Lys310Glu)
|
|
|
NM_016203.4(PRKAG2):c.933dup (p.Gln312fs)
|
rs2151042865
|
|
NM_016203.4(PRKAG2):c.934C>T (p.Gln312Ter)
|
|
|
NM_016203.4(PRKAG2):c.947-19_947-18del
|
|
|
NM_016203.4(PRKAG2):c.947-22_947-6dup
|
rs1808529942
|
|
NM_016203.4(PRKAG2):c.947G>A (p.Gly316Glu)
|
|
|
NM_016203.4(PRKAG2):c.967T>G (p.Phe323Val)
|
rs397517283
|
|
NM_016203.4(PRKAG2):c.968T>G (p.Phe323Cys)
|
rs730880977
|
|
NM_016203.4(PRKAG2):c.970A>G (p.Ile324Val)
|
|
|
NM_016203.4(PRKAG2):c.978A>G (p.Ile326Met)
|
rs1060503023
|
|
NM_016203.4(PRKAG2):c.991T>C (p.Tyr331His)
|
|
|
NM_016219.5(MAN1B1):c.*258C>T
|
rs755189897
|
|
NM_016219.5(MAN1B1):c.*470C>T
|
rs558804715
|
|
NM_016219.5(MAN1B1):c.*498G>C
|
rs886063734
|
|
NM_016219.5(MAN1B1):c.1013G>C (p.Gly338Ala)
|
|
|
NM_016219.5(MAN1B1):c.1013G>T (p.Gly338Val)
|
|
|
NM_016219.5(MAN1B1):c.1028A>G (p.Tyr343Cys)
|
rs1038179177
|
|
NM_016219.5(MAN1B1):c.1062A>C (p.Lys354Asn)
|
rs756197449
|
|
NM_016219.5(MAN1B1):c.1071T>A (p.Asp357Glu)
|
|
|
NM_016219.5(MAN1B1):c.1091C>A (p.Pro364His)
|
|
|
NM_016219.5(MAN1B1):c.1157C>T (p.Pro386Leu)
|
|
|
NM_016219.5(MAN1B1):c.120GCC[3] (p.Pro44_Pro45del)
|
rs538804415
|
|
NM_016219.5(MAN1B1):c.1217G>A (p.Arg406Gln)
|
|
|
NM_016219.5(MAN1B1):c.1292T>C (p.Leu431Pro)
|
|
|
NM_016219.5(MAN1B1):c.1297G>T (p.Gly433Trp)
|
|
|
NM_016219.5(MAN1B1):c.1298G>A (p.Gly433Glu)
|
rs774769293
|
|
NM_016219.5(MAN1B1):c.1306G>C (p.Asp436His)
|
|
|
NM_016219.5(MAN1B1):c.1327A>G (p.Ile443Val)
|
|
|
NM_016219.5(MAN1B1):c.1331A>G (p.Asn444Ser)
|
|
|
NM_016219.5(MAN1B1):c.1378_1394delinsAG (p.Ala460_Tyr465delinsSer)
|
|
|
NM_016219.5(MAN1B1):c.1445+6G>T
|
|
|
NM_016219.5(MAN1B1):c.1447CTG[3] (p.Leu484_Glu485insLeu)
|
|
|
NM_016219.5(MAN1B1):c.1457A>G (p.Asp486Gly)
|
|
|
NM_016219.5(MAN1B1):c.1474G>A (p.Glu492Lys)
|
|
|
NM_016219.5(MAN1B1):c.1474G>C (p.Glu492Gln)
|
rs775259244
|
|
NM_016219.5(MAN1B1):c.1480G>A (p.Val494Ile)
|
|
|
NM_016219.5(MAN1B1):c.1489C>T (p.His497Tyr)
|
|
|
NM_016219.5(MAN1B1):c.1492C>T (p.Leu498=)
|
rs1168317937
|
|
NM_016219.5(MAN1B1):c.155T>C (p.Val52Ala)
|
|
|
NM_016219.5(MAN1B1):c.159G>A (p.Thr53=)
|
rs774835139
|
|
NM_016219.5(MAN1B1):c.1618G>A (p.Gly540Ser)
|
|
|
NM_016219.5(MAN1B1):c.1621C>T (p.Leu541=)
|
rs886063730
|
|
NM_016219.5(MAN1B1):c.1633C>A (p.His545Asn)
|
|
|
NM_016219.5(MAN1B1):c.1648C>G (p.Gln550Glu)
|
|
|
NM_016219.5(MAN1B1):c.164G>C (p.Ser55Thr)
|
|
|
NM_016219.5(MAN1B1):c.1676T>C (p.Met559Thr)
|
|
|
NM_016219.5(MAN1B1):c.1680C>G (p.Asn560Lys)
|
rs1017935955
|
|
NM_016219.5(MAN1B1):c.1682G>A (p.Arg561Gln)
|
|
|
NM_016219.5(MAN1B1):c.1696G>C (p.Gly566Arg)
|
|
|
NM_016219.5(MAN1B1):c.1748G>A (p.Arg583Gln)
|
|
|
NM_016219.5(MAN1B1):c.1790G>A (p.Arg597Gln)
|
|
|
NM_016219.5(MAN1B1):c.1792C>T (p.Pro598Ser)
|
|
|
NM_016219.5(MAN1B1):c.1808G>A (p.Ser603Asn)
|
rs929390325
|
|
NM_016219.5(MAN1B1):c.1823A>T (p.Tyr608Phe)
|
|
|
NM_016219.5(MAN1B1):c.1840C>G (p.Arg614Gly)
|
|
|
NM_016219.5(MAN1B1):c.1881C>T (p.Phe627=)
|
rs886063731
|
|
NM_016219.5(MAN1B1):c.1883G>T (p.Ser628Ile)
|
rs797045687
|
|
NM_016219.5(MAN1B1):c.1886G>A (p.Arg629Gln)
|
|
|
NM_016219.5(MAN1B1):c.1905G>A (p.Ser635=)
|
rs114484315
|
|
NM_016219.5(MAN1B1):c.1913A>G (p.Tyr638Cys)
|
|
|
NM_016219.5(MAN1B1):c.1932C>A (p.Val644=)
|
rs34355967
|
|
NM_016219.5(MAN1B1):c.1946A>G (p.Lys649Arg)
|
|
|
NM_016219.5(MAN1B1):c.1951G>A (p.Glu651Lys)
|
|
|
NM_016219.5(MAN1B1):c.1987G>A (p.Glu663Lys)
|
rs371136351
|
|
NM_016219.5(MAN1B1):c.2039G>C (p.Ser680Thr)
|
|
|
NM_016219.5(MAN1B1):c.2046_2047inv (p.Ala683Thr)
|
|
|
NM_016219.5(MAN1B1):c.2064C>T (p.Thr688=)
|
|
|
NM_016219.5(MAN1B1):c.2069C>T (p.Ala690Val)
|
|
|
NM_016219.5(MAN1B1):c.2093C>T (p.Pro698Leu)
|
|
|
NM_016219.5(MAN1B1):c.219G>T (p.Arg73Ser)
|
|
|
NM_016219.5(MAN1B1):c.223T>C (p.Trp75Arg)
|
|
|
NM_016219.5(MAN1B1):c.232C>G (p.Leu78Val)
|
rs1830422438
|
|
NM_016219.5(MAN1B1):c.247C>T (p.Arg83Trp)
|
|
|
NM_016219.5(MAN1B1):c.256A>G (p.Ile86Val)
|
|
|
NM_016219.5(MAN1B1):c.298T>G (p.Phe100Val)
|
|
|
NM_016219.5(MAN1B1):c.329-9G>C
|
|
|
NM_016219.5(MAN1B1):c.329C>T (p.Ala110Val)
|
|
|
NM_016219.5(MAN1B1):c.38G>C (p.Gly13Ala)
|
|
|
NM_016219.5(MAN1B1):c.410C>T (p.Pro137Leu)
|
|
|
NM_016219.5(MAN1B1):c.439G>C (p.Glu147Gln)
|
|
|
NM_016219.5(MAN1B1):c.441G>A (p.Glu147=)
|
rs886063727
|
|
NM_016219.5(MAN1B1):c.482T>C (p.Ile161Thr)
|
rs2131002805
|
|
NM_016219.5(MAN1B1):c.487C>T (p.Arg163Trp)
|
|
|
NM_016219.5(MAN1B1):c.49T>C (p.Ser17Pro)
|
|
|
NM_016219.5(MAN1B1):c.526G>A (p.Asp176Asn)
|
|
|
NM_016219.5(MAN1B1):c.527A>T (p.Asp176Val)
|
rs886063728
|
|
NM_016219.5(MAN1B1):c.536A>G (p.Asp179Gly)
|
rs2131002949
|
|
NM_016219.5(MAN1B1):c.587G>T (p.Arg196Leu)
|
rs200410163
|
|
NM_016219.5(MAN1B1):c.631G>A (p.Ala211Thr)
|
|
|
NM_016219.5(MAN1B1):c.632C>T (p.Ala211Val)
|
|
|
NM_016219.5(MAN1B1):c.671G>A (p.Arg224Lys)
|
|
|
NM_016219.5(MAN1B1):c.677C>G (p.Ala226Gly)
|
rs145554887
|
|
NM_016219.5(MAN1B1):c.677C>T (p.Ala226Val)
|
|
|
NM_016219.5(MAN1B1):c.730+5G>A
|
|
|
NM_016219.5(MAN1B1):c.731-8C>T
|
rs375902720
|
|
NM_016219.5(MAN1B1):c.746G>A (p.Arg249His)
|
|
|
NM_016219.5(MAN1B1):c.757G>A (p.Val253Met)
|
|
|
NM_016219.5(MAN1B1):c.79dup (p.Ala27fs)
|
rs1190243291
|
|
NM_016219.5(MAN1B1):c.817G>A (p.Glu273Lys)
|
|
|
NM_016219.5(MAN1B1):c.880G>A (p.Ala294Thr)
|
|
|
NM_016219.5(MAN1B1):c.892A>G (p.Met298Val)
|
|
|
NM_016219.5(MAN1B1):c.970G>A (p.Val324Met)
|
|
|
NM_016219.5(MAN1B1):c.973G>A (p.Asp325Asn)
|
|
|
NM_016219.5(MAN1B1):c.994A>G (p.Thr332Ala)
|
rs546612497
|
|
NM_016302.4(CRBN):c.29C>G (p.Ala10Gly)
|
rs137880766
|
|
NM_016302.4(CRBN):c.40A>T (p.Met14Leu)
|
rs753095651
|
|
NM_016302.4(CRBN):c.94G>A (p.Glu32Lys)
|
|
|
NM_017721.5(CC2D1A):c.1072C>T (p.Arg358Trp)
|
rs774357851
|
|
NM_017721.5(CC2D1A):c.1187G>A (p.Arg396Gln)
|
|
|
NM_017721.5(CC2D1A):c.123T>A (p.Asp41Glu)
|
|
|
NM_017721.5(CC2D1A):c.1276G>A (p.Val426Met)
|
rs200445152
|
|
NM_017721.5(CC2D1A):c.1437C>T (p.Ala479=)
|
rs1971378002
|
|
NM_017721.5(CC2D1A):c.1666G>A (p.Asp556Asn)
|
rs1971475798
|
|
NM_017721.5(CC2D1A):c.18ACCCCCGGG[1] (p.7PPG[1])
|
rs1028125077
|
|
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala)
|
rs77389229
|
|
NM_017721.5(CC2D1A):c.2405C>T (p.Thr802Met)
|
|
|
NM_017721.5(CC2D1A):c.2674G>A (p.Ala892Thr)
|
|
|
NM_017721.5(CC2D1A):c.2705G>A (p.Arg902Gln)
|
|
|
NM_017721.5(CC2D1A):c.2836-3C>A
|
|
|
NM_017721.5(CC2D1A):c.325G>A (p.Glu109Lys)
|
rs1568405628
|
|
NM_017721.5(CC2D1A):c.602C>T (p.Pro201Leu)
|
|
|
NM_017721.5(CC2D1A):c.992C>T (p.Thr331Ile)
|
rs781498477
|
|
NM_017755.6(NSUN2):c.*532A>G
|
rs1317432691
|
|
NM_017755.6(NSUN2):c.*619G>A
|
rs1018606113
|
|
NM_017755.6(NSUN2):c.*97C>A
|
rs759455426
|
|
NM_017755.6(NSUN2):c.1112G>A (p.Gly371Glu)
|
rs1560975832
|
|
NM_017755.6(NSUN2):c.116C>T (p.Pro39Leu)
|
|
|
NM_017755.6(NSUN2):c.138G>A (p.Lys46=)
|
rs886060729
|
|
NM_017755.6(NSUN2):c.1477A>C (p.Asn493His)
|
|
|
NM_017755.6(NSUN2):c.1594C>G (p.Pro532Ala)
|
rs1736795903
|
|
NM_017755.6(NSUN2):c.1639A>G (p.Asn547Asp)
|
|
|
NM_017755.6(NSUN2):c.1818+4A>G
|
rs1736685253
|
|
NM_017755.6(NSUN2):c.2025C>G (p.Ile675Met)
|
rs139224594
|
|
NM_017755.6(NSUN2):c.2032T>G (p.Cys678Gly)
|
rs747908747
|
|
NM_017755.6(NSUN2):c.2041_2059del (p.Arg681fs)
|
|
|
NM_017755.6(NSUN2):c.2045G>A (p.Gly682Glu)
|
rs1736492714
|
|
NM_017755.6(NSUN2):c.2062del (p.Thr688fs)
|
|
|
NM_017755.6(NSUN2):c.2254C>T (p.Pro752Ser)
|
rs1736479408
|
|
NM_017755.6(NSUN2):c.340G>A (p.Val114Ile)
|
rs2126513553
|
|
NM_017755.6(NSUN2):c.604A>G (p.Met202Val)
|
rs1737468532
|
|
NM_017755.6(NSUN2):c.615C>A (p.Pro205=)
|
rs773951967
|
|
NM_017755.6(NSUN2):c.767G>A (p.Arg256Lys)
|
rs1456146368
|
|
NM_017755.6(NSUN2):c.980A>G (p.Glu327Gly)
|
rs1737229372
|
|
NM_017947.4(MOCOS):c.633C>A (p.Tyr211Ter)
|
rs2091405838
|
|
NM_018255.4(ELP2):c.1239A>C (p.Arg413Ser)
|
rs2090517565
|
|
NM_018255.4(ELP2):c.1544C>T (p.Ala515Val)
|
|
|
NM_018255.4(ELP2):c.1923G>A (p.Trp641Ter)
|
|
|
NM_018255.4(ELP2):c.212A>G (p.Asp71Gly)
|
|
|
NM_018255.4(ELP2):c.445G>T (p.Val149Leu)
|
|
|
NM_018297.4(NGLY1):c.-18_14dup (p.Leu6fs)
|
rs762131179
|
|
NM_018297.4(NGLY1):c.1168C>G (p.Arg390Gly)
|
|
|
NM_018297.4(NGLY1):c.1315G>T (p.Val439Leu)
|
|
|
NM_018297.4(NGLY1):c.1931G>A (p.Cys644Tyr)
|
|
|
NM_018444.4(PDP1):c.*1661del
|
rs60316663
|
|
NM_018444.4(PDP1):c.*724del
|
rs886063179
|
|
NM_018444.4(PDP1):c.*898CTT[1]
|
rs756226872
|
|
NM_020066.5(FMN2):c.1054G>T (p.Asp352Tyr)
|
|
|
NM_020066.5(FMN2):c.1244C>T (p.Thr415Ile)
|
rs200347646
|
|
NM_020066.5(FMN2):c.1378G>A (p.Ala460Thr)
|
rs1463766241
|
|
NM_020066.5(FMN2):c.1748A>C (p.Asn583Thr)
|
|
|
NM_020066.5(FMN2):c.2806C>G (p.Pro936Ala)
|
|
|
NM_020066.5(FMN2):c.2842_2873del (p.Leu948fs)
|
|
|
NM_020066.5(FMN2):c.3131C>T (p.Pro1044Leu)
|
rs202165125
|
|
NM_020066.5(FMN2):c.3230C>T (p.Pro1077Leu)
|
|
|
NM_020066.5(FMN2):c.4468G>T (p.Val1490Phe)
|
|
|
NM_020066.5(FMN2):c.4666C>G (p.Leu1556Val)
|
|
|
NM_020066.5(FMN2):c.884C>T (p.Ser295Phe)
|
|
|
NM_020374.4(FERRY3):c.766T>C (p.Ser256Pro)
|
|
|
NM_020897.3(HCN3):c.*1354A>G
|
rs1674455124
|
|
NM_020987.5(ANK3):c.12356T>C (p.Ile4119Thr)
|
rs768220615
|
|
NM_021956.5(GRIK2):c.1095+2T>A
|
|
|
NM_021956.5(GRIK2):c.2625A>T (p.Leu875Phe)
|
rs1356066581
|
|
NM_021956.5(GRIK2):c.969G>A (p.Met323Ile)
|
rs1780549634
|
|
NM_021957.4(GYS2):c.*468T>C
|
rs1943911606
|
|
NM_021957.4(GYS2):c.*545G>A
|
rs562024109
|
|
NM_021957.4(GYS2):c.*567del
|
rs886049152
|
|
NM_021957.4(GYS2):c.*684C>T
|
rs746414953
|
|
NM_021957.4(GYS2):c.*735TAAA[1]
|
rs886049151
|
|
NM_021957.4(GYS2):c.1170-4A>G
|
rs886049157
|
|
NM_021957.4(GYS2):c.1171G>T (p.Asp391Tyr)
|
rs763052951
|
|
NM_021957.4(GYS2):c.117T>A (p.Asn39Lys)
|
rs777214550
|
|
NM_021957.4(GYS2):c.1336C>G (p.His446Asp)
|
rs121918425
|
|
NM_021957.4(GYS2):c.1418T>G (p.Val473Gly)
|
rs886049156
|
|
NM_021957.4(GYS2):c.1472T>G (p.Met491Arg)
|
rs121918422
|
|
NM_021957.4(GYS2):c.1477T>A (p.Tyr493Asn)
|
rs539369206
|
|
NM_021957.4(GYS2):c.1623C>A (p.His541Gln)
|
rs532771906
|
|
NM_021957.4(GYS2):c.1638T>A (p.Thr546=)
|
rs1565591921
|
|
NM_021957.4(GYS2):c.1735C>T (p.Arg579Cys)
|
|
|
NM_021957.4(GYS2):c.1739G>A (p.Arg580His)
|
|
|
NM_021957.4(GYS2):c.1820A>G (p.His607Arg)
|
rs886049155
|
|
NM_021957.4(GYS2):c.2033G>T (p.Arg678Leu)
|
|
|
NM_021957.4(GYS2):c.2055T>C (p.Phe685=)
|
rs201063818
|
|
NM_021957.4(GYS2):c.2068G>A (p.Val690Ile)
|
|
|
NM_021957.4(GYS2):c.215A>G (p.His72Arg)
|
rs574787003
|
|
NM_021957.4(GYS2):c.279C>T (p.Asp93=)
|
rs779704436
|
|
NM_021957.4(GYS2):c.283A>G (p.Met95Val)
|
|
|
NM_021957.4(GYS2):c.289A>G (p.Lys97Glu)
|
rs886049161
|
|
NM_021957.4(GYS2):c.299G>A (p.Cys100Tyr)
|
rs144077289
|
|
NM_021957.4(GYS2):c.308A>G (p.His103Arg)
|
|
|
NM_021957.4(GYS2):c.464T>G (p.Phe155Cys)
|
|
|
NM_021957.4(GYS2):c.601A>T (p.Ile201Leu)
|
|
|
NM_021957.4(GYS2):c.693A>C (p.Lys231Asn)
|
|
|
NM_021957.4(GYS2):c.710_711delinsCC (p.Gln237Pro)
|
|
|
NM_021957.4(GYS2):c.753C>G (p.Cys251Trp)
|
rs779543684
|
|
NM_021957.4(GYS2):c.755C>G (p.Ala252Gly)
|
rs886049160
|
|
NM_021957.4(GYS2):c.942-6T>C
|
rs886049158
|
|
NM_022042.4(SLC26A1):c.1778del (p.Leu593fs)
|
rs1553915188
|
|
NM_022895.3(C12orf43):c.*1890C>A
|
rs886049035
|
|
NM_022895.3(C12orf43):c.*2626G>A
|
rs1877483762
|
|
NM_022895.3(C12orf43):c.*2765C>T
|
rs1877471070
|
|
NM_022895.3(C12orf43):c.*2768G>T
|
rs972789249
|
|
NM_022895.3(C12orf43):c.*2922C>G
|
rs758414199
|
|
NM_024298.5(MBOAT7):c.1031+17A>G
|
rs1034934225
|
|
NM_024298.5(MBOAT7):c.1031G>A (p.Arg344Gln)
|
rs761899500
|
|
NM_024298.5(MBOAT7):c.1196A>C (p.His399Pro)
|
rs2076008543
|
|
NM_024298.5(MBOAT7):c.1361_1382del (p.Arg454fs)
|
rs548203729
|
|
NM_024298.5(MBOAT7):c.259C>T (p.Arg87Ter)
|
rs2076453599
|
|
NM_024298.5(MBOAT7):c.653G>C (p.Arg218Pro)
|
rs185682596
|
|
NM_024298.5(MBOAT7):c.823G>A (p.Gly275Ser)
|
rs756299945
|
|
NM_024298.5(MBOAT7):c.847C>G (p.Pro283Ala)
|
rs1055465093
|
|
NM_024298.5(MBOAT7):c.849C>G (p.Pro283=)
|
rs767593470
|
|
NM_024298.5(MBOAT7):c.937G>T (p.Val313Leu)
|
rs2076188195
|
|
NM_024298.5(MBOAT7):c.971_985del (p.Val324_Leu328del)
|
rs2146977904
|
|
NM_024735.5(FBXO31):c.1348G>A (p.Val450Met)
|
rs145589459
|
|
NM_024735.5(FBXO31):c.44G>A (p.Gly15Glu)
|
rs1235563636
|
|
NM_024735.5(FBXO31):c.638C>A (p.Pro213His)
|
rs1905261526
|
|
NM_024824.5(ZC3H14):c.1232C>T (p.Pro411Leu)
|
rs201527519
|
|
NM_024989.4(PGAP1):c.1036A>T (p.Thr346Ser)
|
|
|
NM_024989.4(PGAP1):c.104A>G (p.Asn35Ser)
|
|
|
NM_024989.4(PGAP1):c.1069T>C (p.Trp357Arg)
|
rs747024084
|
|
NM_024989.4(PGAP1):c.1078G>A (p.Val360Ile)
|
|
|
NM_024989.4(PGAP1):c.1085A>T (p.Tyr362Phe)
|
|
|
NM_024989.4(PGAP1):c.1208G>A (p.Ser403Asn)
|
|
|
NM_024989.4(PGAP1):c.1220+3A>G
|
rs2125812472
|
|
NM_024989.4(PGAP1):c.1230G>T (p.Gly410=)
|
rs2125812117
|
|
NM_024989.4(PGAP1):c.124A>G (p.Met42Val)
|
rs772948939
|
|
NM_024989.4(PGAP1):c.1346G>A (p.Ser449Asn)
|
|
|
NM_024989.4(PGAP1):c.1350+4_1350+5insAAA
|
rs759795498
|
|
NM_024989.4(PGAP1):c.1382A>G (p.Glu461Gly)
|
|
|
NM_024989.4(PGAP1):c.1397A>G (p.Gln466Arg)
|
|
|
NM_024989.4(PGAP1):c.1447G>A (p.Val483Met)
|
rs1329688368
|
|
NM_024989.4(PGAP1):c.1447G>C (p.Val483Leu)
|
rs1329688368
|
|
NM_024989.4(PGAP1):c.147+5G>C
|
|
|
NM_024989.4(PGAP1):c.1496G>A (p.Gly499Glu)
|
|
|
NM_024989.4(PGAP1):c.1521C>G (p.Ile507Met)
|
|
|
NM_024989.4(PGAP1):c.16_17inv (p.Val6Thr)
|
|
|
NM_024989.4(PGAP1):c.1706C>T (p.Thr569Met)
|
|
|
NM_024989.4(PGAP1):c.1729-16_1729-13del
|
|
|
NM_024989.4(PGAP1):c.1882A>G (p.Thr628Ala)
|
rs1334582239
|
|
NM_024989.4(PGAP1):c.1953G>C (p.Gly651=)
|
|
|
NM_024989.4(PGAP1):c.1981G>C (p.Val661Leu)
|
|
|
NM_024989.4(PGAP1):c.2018C>T (p.Thr673Ile)
|
|
|
NM_024989.4(PGAP1):c.2045T>C (p.Ile682Thr)
|
rs2125778704
|
|
NM_024989.4(PGAP1):c.2072C>T (p.Thr691Met)
|
|
|
NM_024989.4(PGAP1):c.2107G>A (p.Ala703Thr)
|
|
|
NM_024989.4(PGAP1):c.2128T>C (p.Ser710Pro)
|
rs1700574769
|
|
NM_024989.4(PGAP1):c.2136G>C (p.Trp712Cys)
|
|
|
NM_024989.4(PGAP1):c.2141C>T (p.Ala714Val)
|
|
|
NM_024989.4(PGAP1):c.2286+5G>A
|
rs937847069
|
|
NM_024989.4(PGAP1):c.22C>A (p.Leu8Ile)
|
|
|
NM_024989.4(PGAP1):c.2314A>G (p.Thr772Ala)
|
|
|
NM_024989.4(PGAP1):c.2327G>A (p.Ser776Asn)
|
|
|
NM_024989.4(PGAP1):c.2332C>A (p.Pro778Thr)
|
|
|
NM_024989.4(PGAP1):c.2351C>G (p.Ser784Cys)
|
rs760816428
|
|
NM_024989.4(PGAP1):c.2371T>C (p.Ser791Pro)
|
|
|
NM_024989.4(PGAP1):c.2372C>T (p.Ser791Phe)
|
|
|
NM_024989.4(PGAP1):c.2385A>C (p.Lys795Asn)
|
|
|
NM_024989.4(PGAP1):c.2422G>A (p.Asp808Asn)
|
|
|
NM_024989.4(PGAP1):c.2441G>A (p.Arg814His)
|
|
|
NM_024989.4(PGAP1):c.251C>T (p.Thr84Met)
|
|
|
NM_024989.4(PGAP1):c.2525+4C>T
|
|
|
NM_024989.4(PGAP1):c.2537A>T (p.Lys846Ile)
|
|
|
NM_024989.4(PGAP1):c.2548G>T (p.Asp850Tyr)
|
rs2125775207
|
|
NM_024989.4(PGAP1):c.2607_2610dup (p.Thr871fs)
|
rs1700449009
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NM_024989.4(PGAP1):c.2614G>A (p.Val872Ile)
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NM_024989.4(PGAP1):c.2690T>C (p.Phe897Ser)
|
rs1559326086
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NM_024989.4(PGAP1):c.2743C>T (p.Leu915Phe)
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NM_024989.4(PGAP1):c.2764A>G (p.Met922Val)
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NM_024989.4(PGAP1):c.301+5G>A
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NM_024989.4(PGAP1):c.31C>G (p.Leu11Val)
|
rs375123215
|
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NM_024989.4(PGAP1):c.334G>T (p.Ala112Ser)
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|
NM_024989.4(PGAP1):c.339G>C (p.Glu113Asp)
|
rs1457240197
|
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NM_024989.4(PGAP1):c.34G>T (p.Ala12Ser)
|
rs1703369332
|
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NM_024989.4(PGAP1):c.386A>G (p.Asn129Ser)
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NM_024989.4(PGAP1):c.416G>A (p.Ser139Asn)
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NM_024989.4(PGAP1):c.43G>A (p.Val15Ile)
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NM_024989.4(PGAP1):c.442C>T (p.His148Tyr)
|
rs1364134988
|
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NM_024989.4(PGAP1):c.497A>G (p.Lys166Arg)
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NM_024989.4(PGAP1):c.502G>A (p.Val168Met)
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NM_024989.4(PGAP1):c.511A>G (p.Ile171Val)
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NM_024989.4(PGAP1):c.525G>A (p.Met175Ile)
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NM_024989.4(PGAP1):c.52G>A (p.Val18Ile)
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NM_024989.4(PGAP1):c.583A>C (p.Asn195His)
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NM_024989.4(PGAP1):c.709A>C (p.Thr237Pro)
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NM_024989.4(PGAP1):c.734G>A (p.Arg245Gln)
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NM_024989.4(PGAP1):c.749G>A (p.Arg250His)
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NM_024989.4(PGAP1):c.749G>C (p.Arg250Pro)
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NM_024989.4(PGAP1):c.790A>G (p.Ser264Gly)
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NM_024989.4(PGAP1):c.807+5T>C
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NM_024989.4(PGAP1):c.808-7_808-3del
|
rs570708925
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NM_024989.4(PGAP1):c.82G>A (p.Val28Ile)
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NM_024989.4(PGAP1):c.857T>C (p.Val286Ala)
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NM_024989.4(PGAP1):c.892G>A (p.Ala298Thr)
|
rs1385705047
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NM_024989.4(PGAP1):c.908T>C (p.Ile303Thr)
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NM_024989.4(PGAP1):c.911A>T (p.Asp304Val)
|
rs1323722383
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NM_024989.4(PGAP1):c.91G>A (p.Gly31Ser)
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NM_030805.4(LMAN2L):c.424+11C>T
|
rs2078470068
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NM_030805.4(LMAN2L):c.46C>A (p.Arg16=)
|
rs1028008100
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NM_030805.4(LMAN2L):c.776A>T (p.Asp259Val)
|
rs2077918865
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NM_031229.4(RBCK1):c.1016G>A (p.Arg339Lys)
|
rs2122282675
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NM_031229.4(RBCK1):c.1049A>G (p.Tyr350Cys)
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NM_031229.4(RBCK1):c.1069G>A (p.Gly357Ser)
|
rs2122324503
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NM_031229.4(RBCK1):c.1094G>T (p.Ser365Ile)
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NM_031229.4(RBCK1):c.1129_1130delinsCT (p.Lys377Leu)
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NM_031229.4(RBCK1):c.1153G>T (p.Asp385Tyr)
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NM_031229.4(RBCK1):c.1164G>C (p.Glu388Asp)
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NM_031229.4(RBCK1):c.1209+6G>T
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NM_031229.4(RBCK1):c.1238A>G (p.Glu413Gly)
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NM_031229.4(RBCK1):c.1276G>A (p.Val426Met)
|
rs763071132
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NM_031229.4(RBCK1):c.1286G>A (p.Arg429Gln)
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NM_031229.4(RBCK1):c.1292C>T (p.Thr431Met)
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NM_031229.4(RBCK1):c.1302G>T (p.Met434Ile)
|
rs1600315243
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NM_031229.4(RBCK1):c.1309-9C>T
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NM_031229.4(RBCK1):c.1309G>A (p.Val437Met)
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NM_031229.4(RBCK1):c.1357G>A (p.Val453Met)
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NM_031229.4(RBCK1):c.1368G>T (p.Lys456Asn)
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NM_031229.4(RBCK1):c.1369A>G (p.Lys457Glu)
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NM_031229.4(RBCK1):c.1384T>C (p.Trp462Arg)
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NM_031229.4(RBCK1):c.1390C>G (p.Arg464Gly)
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NM_031229.4(RBCK1):c.1408A>G (p.Thr470Ala)
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NM_031229.4(RBCK1):c.1430A>G (p.Lys477Arg)
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NM_031229.4(RBCK1):c.143A>C (p.Glu48Ala)
|
rs756720324
|
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NM_031229.4(RBCK1):c.1452+6T>C
|
rs2122339130
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NM_031229.4(RBCK1):c.146T>C (p.Val49Ala)
|
rs2015609266
|
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NM_031229.4(RBCK1):c.1495G>A (p.Gly499Arg)
|
rs2016958362
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NM_031229.4(RBCK1):c.149C>T (p.Ser50Phe)
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NM_031229.4(RBCK1):c.1514G>A (p.Ser505Asn)
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NM_031229.4(RBCK1):c.167+3G>A
|
rs2015610951
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NM_031229.4(RBCK1):c.185A>T (p.Glu62Val)
|
rs1568554230
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NM_031229.4(RBCK1):c.19A>G (p.Lys7Glu)
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NM_031229.4(RBCK1):c.205G>A (p.Val69Ile)
|
rs778362577
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NM_031229.4(RBCK1):c.205G>C (p.Val69Leu)
|
rs778362577
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NM_031229.4(RBCK1):c.209C>T (p.Thr70Ile)
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NM_031229.4(RBCK1):c.227G>A (p.Arg76His)
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NM_031229.4(RBCK1):c.227G>C (p.Arg76Pro)
|
rs772407882
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NM_031229.4(RBCK1):c.242T>C (p.Val81Ala)
|
rs778228682
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NM_031229.4(RBCK1):c.261+6_261+9del
|
rs754865819
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NM_031229.4(RBCK1):c.262-4C>G
|
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NM_031229.4(RBCK1):c.290T>C (p.Val97Ala)
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NM_031229.4(RBCK1):c.290T>G (p.Val97Gly)
|
rs764728866
|
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NM_031229.4(RBCK1):c.317G>A (p.Arg106Gln)
|
rs752153553
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NM_031229.4(RBCK1):c.359G>A (p.Arg120Gln)
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NM_031229.4(RBCK1):c.412C>T (p.Leu138Phe)
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NM_031229.4(RBCK1):c.419C>T (p.Pro140Leu)
|
rs2122228193
|
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NM_031229.4(RBCK1):c.41G>A (p.Ser14Asn)
|
rs1471676178
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NM_031229.4(RBCK1):c.434G>T (p.Arg145Leu)
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|
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NM_031229.4(RBCK1):c.436G>A (p.Glu146Lys)
|
rs1555785275
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NM_031229.4(RBCK1):c.459A>G (p.Glu153=)
|
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NM_031229.4(RBCK1):c.463C>A (p.Leu155Met)
|
rs2016220877
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NM_031229.4(RBCK1):c.481A>G (p.Thr161Ala)
|
rs2016222055
|
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NM_031229.4(RBCK1):c.496G>T (p.Gly166Cys)
|
rs2122242440
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NM_031229.4(RBCK1):c.508C>A (p.Pro170Thr)
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NM_031229.4(RBCK1):c.530T>C (p.Val177Ala)
|
rs766968693
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NM_031229.4(RBCK1):c.571G>A (p.Glu191Lys)
|
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NM_031229.4(RBCK1):c.577C>T (p.Pro193Ser)
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NM_031229.4(RBCK1):c.601G>T (p.Gly201Trp)
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NM_031229.4(RBCK1):c.653G>T (p.Arg218Leu)
|
rs764357407
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NM_031229.4(RBCK1):c.656C>T (p.Ala219Val)
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NM_031229.4(RBCK1):c.658C>T (p.Arg220Cys)
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NM_031229.4(RBCK1):c.695_742dup (p.Pro232_Leu247dup)
|
rs2016250689
|
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NM_031229.4(RBCK1):c.697G>A (p.Asp233Asn)
|
rs1056596650
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NM_031229.4(RBCK1):c.697G>C (p.Asp233His)
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NM_031229.4(RBCK1):c.700G>C (p.Glu234Gln)
|
rs756811010
|
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NM_031229.4(RBCK1):c.700GAG[4] (p.Glu236dup)
|
rs2016252024
|
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NM_031229.4(RBCK1):c.704A>G (p.Glu235Gly)
|
rs2122246121
|
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NM_031229.4(RBCK1):c.710G>A (p.Arg237Gln)
|
rs770302308
|
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NM_031229.4(RBCK1):c.732G>T (p.Glu244Asp)
|
|
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NM_031229.4(RBCK1):c.742C>A (p.Arg248Ser)
|
rs993862197
|
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NM_031229.4(RBCK1):c.754C>A (p.Gln252Lys)
|
rs2016261661
|
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NM_031229.4(RBCK1):c.757-10G>A
|
rs1472775469
|
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NM_031229.4(RBCK1):c.757C>T (p.Arg253Trp)
|
rs867822612
|
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NM_031229.4(RBCK1):c.758G>C (p.Arg253Pro)
|
|
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NM_031229.4(RBCK1):c.760A>G (p.Lys254Glu)
|
rs2016380869
|
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NM_031229.4(RBCK1):c.763CAG[3] (p.Gln258del)
|
rs770767944
|
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NM_031229.4(RBCK1):c.763CAG[5] (p.Gln258_Glu259insGln)
|
|
|
NM_031229.4(RBCK1):c.765G>C (p.Gln255His)
|
rs1167649288
|
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NM_031229.4(RBCK1):c.770A>G (p.Gln257Arg)
|
rs755744736
|
|
NM_031229.4(RBCK1):c.770A>T (p.Gln257Leu)
|
|
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NM_031229.4(RBCK1):c.795C>G (p.His265Gln)
|
rs1001816526
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NM_031229.4(RBCK1):c.812G>A (p.Arg271Lys)
|
|
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NM_031229.4(RBCK1):c.832G>C (p.Glu278Gln)
|
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NM_031229.4(RBCK1):c.836C>A (p.Pro279His)
|
rs778259648
|
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NM_031229.4(RBCK1):c.845G>A (p.Cys282Tyr)
|
rs1600298063
|
|
NM_031229.4(RBCK1):c.860C>T (p.Ser287Leu)
|
|
|
NM_031229.4(RBCK1):c.874G>A (p.Gly292Ser)
|
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NM_031229.4(RBCK1):c.875G>T (p.Gly292Val)
|
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NM_031229.4(RBCK1):c.880G>T (p.Ala294Ser)
|
|
|
NM_031229.4(RBCK1):c.883G>C (p.Val295Leu)
|
rs765956229
|
|
NM_031229.4(RBCK1):c.883GTG[1] (p.Val296del)
|
rs2122269453
|
|
NM_031229.4(RBCK1):c.893G>A (p.Arg298His)
|
rs2016395491
|
|
NM_031229.4(RBCK1):c.907A>G (p.Thr303Ala)
|
|
|
NM_031229.4(RBCK1):c.94A>G (p.Ile32Val)
|
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|
NM_031229.4(RBCK1):c.976A>G (p.Ile326Val)
|
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|
NM_031229.4(RBCK1):c.986C>A (p.Thr329Asn)
|
|
|
NM_031229.4(RBCK1):c.989A>G (p.Tyr330Cys)
|
rs2122282171
|
|
NM_031229.4(RBCK1):c.992C>G (p.Ser331Trp)
|
rs781592121
|
|
NM_031229.4(RBCK1):c.994T>A (p.Cys332Ser)
|
rs2122282299
|
|
NM_031229.4(RBCK1):c.997T>C (p.Ser333Pro)
|
|
|
NM_032119.4(ADGRV1):c.11429G>T (p.Gly3810Val)
|
rs2149973288
|
|
NM_032687.4(TMEM276):c.259C>A (p.Arg87Ser)
|
rs752345868
|
|
NM_032808.7(LINGO1):c.1406A>G (p.Lys469Arg)
|
rs868551107
|
|
NM_032808.7(LINGO1):c.158G>A (p.Arg53His)
|
|
|
NM_033159.4(HYAL1):c.*106G>C
|
rs903056291
|
|
NM_033159.4(HYAL1):c.*333C>G
|
rs1702060462
|
|
NM_033159.4(HYAL1):c.103G>A (p.Val35Ile)
|
|
|
NM_033159.4(HYAL1):c.1047G>A (p.Leu349=)
|
rs782279681
|
|
NM_033159.4(HYAL1):c.104T>A (p.Val35Asp)
|
|
|
NM_033159.4(HYAL1):c.1058G>A (p.Ser353Asn)
|
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|
NM_033159.4(HYAL1):c.1088G>C (p.Cys363Ser)
|
rs1702097712
|
|
NM_033159.4(HYAL1):c.10C>T (p.His4Tyr)
|
|
|
NM_033159.4(HYAL1):c.1103G>A (p.Arg368His)
|
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|
NM_033159.4(HYAL1):c.1111C>T (p.Arg371Cys)
|
|
|
NM_033159.4(HYAL1):c.1138C>T (p.Leu380Phe)
|
rs782055404
|
|
NM_033159.4(HYAL1):c.1144_1146del (p.Leu382del)
|
|
|
NM_033159.4(HYAL1):c.1156A>T (p.Ser386Cys)
|
rs781999703
|
|
NM_033159.4(HYAL1):c.1159T>G (p.Phe387Val)
|
|
|
NM_033159.4(HYAL1):c.1176G>A (p.Thr392=)
|
rs587680396
|
|
NM_033159.4(HYAL1):c.1177C>G (p.Pro393Ala)
|
|
|
NM_033159.4(HYAL1):c.1202G>A (p.Arg401Gln)
|
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NM_033159.4(HYAL1):c.1204G>C (p.Gly402Arg)
|
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|
NM_033159.4(HYAL1):c.1231C>T (p.Gln411Ter)
|
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|
NM_033159.4(HYAL1):c.1264C>A (p.Pro422Thr)
|
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|
NM_033159.4(HYAL1):c.1267G>A (p.Gly423Ser)
|
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|
NM_033159.4(HYAL1):c.142G>A (p.Gly48Ser)
|
|
|
NM_033159.4(HYAL1):c.151G>A (p.Val51Met)
|
|
|
NM_033159.4(HYAL1):c.155A>G (p.Asp52Gly)
|
|
|
NM_033159.4(HYAL1):c.156T>A (p.Asp52Glu)
|
|
|
NM_033159.4(HYAL1):c.169G>A (p.Asp57Asn)
|
|
|
NM_033159.4(HYAL1):c.203G>A (p.Gly68Asp)
|
|
|
NM_033159.4(HYAL1):c.206C>G (p.Pro69Arg)
|
|
|
NM_033159.4(HYAL1):c.227G>T (p.Ser76Ile)
|
rs1221211075
|
|
NM_033159.4(HYAL1):c.239G>T (p.Gly80Val)
|
|
|
NM_033159.4(HYAL1):c.297T>G (p.Asn99Lys)
|
rs782638873
|
|
NM_033159.4(HYAL1):c.315C>G (p.His105Gln)
|
|
|
NM_033159.4(HYAL1):c.322C>T (p.Arg108Cys)
|
|
|
NM_033159.4(HYAL1):c.332A>G (p.Gln111Arg)
|
rs781865734
|
|
NM_033159.4(HYAL1):c.370G>A (p.Gly124Arg)
|
|
|
NM_033159.4(HYAL1):c.383T>C (p.Ile128Thr)
|
|
|
NM_033159.4(HYAL1):c.397T>C (p.Trp133Arg)
|
rs1471550375
|
|
NM_033159.4(HYAL1):c.400C>T (p.Arg134Cys)
|
|
|
NM_033159.4(HYAL1):c.401G>C (p.Arg134Pro)
|
|
|
NM_033159.4(HYAL1):c.406C>T (p.Arg136Cys)
|
|
|
NM_033159.4(HYAL1):c.407G>A (p.Arg136His)
|
rs376279134
|
|
NM_033159.4(HYAL1):c.408C>G (p.Arg136=)
|
rs782343934
|
|
NM_033159.4(HYAL1):c.443G>A (p.Arg148Gln)
|
rs144539557
|
|
NM_033159.4(HYAL1):c.448C>T (p.Arg150Cys)
|
|
|
NM_033159.4(HYAL1):c.454C>T (p.Arg152Trp)
|
rs587774476
|
|
NM_033159.4(HYAL1):c.455G>A (p.Arg152Gln)
|
rs781929111
|
|
NM_033159.4(HYAL1):c.49G>C (p.Asp17His)
|
|
|
NM_033159.4(HYAL1):c.523T>C (p.Phe175Leu)
|
|
|
NM_033159.4(HYAL1):c.547A>G (p.Met183Val)
|
|
|
NM_033159.4(HYAL1):c.551C>T (p.Ala184Val)
|
rs1225771471
|
|
NM_033159.4(HYAL1):c.572G>A (p.Arg191Gln)
|
|
|
NM_033159.4(HYAL1):c.586C>T (p.Arg196Cys)
|
|
|
NM_033159.4(HYAL1):c.605A>G (p.Tyr202Cys)
|
|
|
NM_033159.4(HYAL1):c.655G>A (p.Gly219Ser)
|
|
|
NM_033159.4(HYAL1):c.676C>A (p.Arg226Ser)
|
|
|
NM_033159.4(HYAL1):c.697G>C (p.Gly233Arg)
|
|
|
NM_033159.4(HYAL1):c.71G>T (p.Gly24Val)
|
|
|
NM_033159.4(HYAL1):c.734G>C (p.Ser245Thr)
|
|
|
NM_033159.4(HYAL1):c.748G>A (p.Ala250Thr)
|
|
|
NM_033159.4(HYAL1):c.827C>T (p.Ala276Val)
|
|
|
NM_033159.4(HYAL1):c.853C>T (p.Pro285Ser)
|
rs902728091
|
|
NM_033159.4(HYAL1):c.872A>G (p.Tyr291Cys)
|
|
|
NM_033159.4(HYAL1):c.886C>G (p.His296Asp)
|
|
|
NM_033159.4(HYAL1):c.88C>T (p.Arg30Trp)
|
|
|
NM_033159.4(HYAL1):c.899del (p.Leu300fs)
|
|
|
NM_033159.4(HYAL1):c.900G>C (p.Leu300=)
|
|
|
NM_033159.4(HYAL1):c.931G>A (p.Ala311Thr)
|
|
|
NM_033159.4(HYAL1):c.943dup (p.Ala315fs)
|
|
|
NM_033159.4(HYAL1):c.958C>A (p.Leu320Ile)
|
rs1553712742
|
|
NM_053013.4(ENO3):c.103G>A (p.Val35Met)
|
rs1317890147
|
|
NM_053013.4(ENO3):c.1067+1G>A
|
|
|
NM_053013.4(ENO3):c.1073A>T (p.Lys358Ile)
|
|
|
NM_053013.4(ENO3):c.1095G>A (p.Trp365Ter)
|
|
|
NM_053013.4(ENO3):c.1097G>A (p.Gly366Glu)
|
rs1971740543
|
|
NM_053013.4(ENO3):c.1115G>A (p.Arg372His)
|
|
|
NM_053013.4(ENO3):c.1123G>A (p.Glu375Lys)
|
rs770822790
|
|
NM_053013.4(ENO3):c.1176G>A (p.Gln392=)
|
|
|
NM_053013.4(ENO3):c.1177A>G (p.Ile393Val)
|
|
|
NM_053013.4(ENO3):c.1178T>G (p.Ile393Ser)
|
|
|
NM_053013.4(ENO3):c.1181A>G (p.Lys394Arg)
|
|
|
NM_053013.4(ENO3):c.1194dup (p.Cys399fs)
|
rs757440599
|
|
NM_053013.4(ENO3):c.1199G>A (p.Arg400His)
|
|
|
NM_053013.4(ENO3):c.1202C>T (p.Ser401Leu)
|
|
|
NM_053013.4(ENO3):c.1221C>A (p.Tyr407Ter)
|
|
|
NM_053013.4(ENO3):c.1233G>A (p.Met411Ile)
|
|
|
NM_053013.4(ENO3):c.1235+5A>G
|
|
|
NM_053013.4(ENO3):c.1236G>C (p.Arg412Ser)
|
|
|
NM_053013.4(ENO3):c.1240G>A (p.Glu414Lys)
|
|
|
NM_053013.4(ENO3):c.1257C>A (p.Asp419Glu)
|
|
|
NM_053013.4(ENO3):c.1277G>A (p.Arg426His)
|
|
|
NM_053013.4(ENO3):c.1286G>A (p.Arg429His)
|
|
|
NM_053013.4(ENO3):c.1291C>A (p.Pro431Thr)
|
rs1821447881
|
|
NM_053013.4(ENO3):c.1296G>C (p.Lys432Asn)
|
|
|
NM_053013.4(ENO3):c.1303T>C (p.Ter435Arg)
|
|
|
NM_053013.4(ENO3):c.131A>G (p.Tyr44Cys)
|
|
|
NM_053013.4(ENO3):c.142G>A (p.Glu48Lys)
|
|
|
NM_053013.4(ENO3):c.151G>T (p.Asp51Tyr)
|
|
|
NM_053013.4(ENO3):c.181+6_181+8del
|
|
|
NM_053013.4(ENO3):c.209A>G (p.Asn70Ser)
|
|
|
NM_053013.4(ENO3):c.211_212delinsGG (p.Asn71Gly)
|
|
|
NM_053013.4(ENO3):c.22G>A (p.Ala8Thr)
|
|
|
NM_053013.4(ENO3):c.235C>T (p.Gln79Ter)
|
|
|
NM_053013.4(ENO3):c.240G>A (p.Lys80=)
|
rs980318534
|
|
NM_053013.4(ENO3):c.262G>T (p.Glu88Ter)
|
|
|
NM_053013.4(ENO3):c.296G>A (p.Gly99Glu)
|
rs1597699325
|
|
NM_053013.4(ENO3):c.298A>T (p.Thr100Ser)
|
|
|
NM_053013.4(ENO3):c.310+1G>C
|
rs113298706
|
|
NM_053013.4(ENO3):c.310+3G>A
|
|
|
NM_053013.4(ENO3):c.326A>G (p.Asn109Ser)
|
rs143749502
|
|
NM_053013.4(ENO3):c.352G>A (p.Val118Met)
|
|
|
NM_053013.4(ENO3):c.360G>C (p.Lys120Asn)
|
|
|
NM_053013.4(ENO3):c.378G>C (p.Lys126Asn)
|
|
|
NM_053013.4(ENO3):c.382dup (p.Val128fs)
|
|
|
NM_053013.4(ENO3):c.383T>A (p.Val128Asp)
|
|
|
NM_053013.4(ENO3):c.394C>T (p.Arg132Cys)
|
|
|
NM_053013.4(ENO3):c.3G>A (p.Met1Ile)
|
|
|
NM_053013.4(ENO3):c.404C>T (p.Ala135Val)
|
|
|
NM_053013.4(ENO3):c.412G>A (p.Ala138Thr)
|
rs202030238
|
|
NM_053013.4(ENO3):c.412G>C (p.Ala138Pro)
|
|
|
NM_053013.4(ENO3):c.444+1G>T
|
|
|
NM_053013.4(ENO3):c.444+5G>A
|
|
|
NM_053013.4(ENO3):c.451A>G (p.Asn151Asp)
|
|
|
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser)
|
rs560867570
|
|
NM_053013.4(ENO3):c.469T>G (p.Ser157Ala)
|
|
|
NM_053013.4(ENO3):c.475G>C (p.Ala159Pro)
|
rs1971675855
|
|
NM_053013.4(ENO3):c.483C>A (p.Asn161Lys)
|
|
|
NM_053013.4(ENO3):c.496C>G (p.Gln166Glu)
|
rs1179493512
|
|
NM_053013.4(ENO3):c.49A>G (p.Asn17Asp)
|
rs1971550702
|
|
NM_053013.4(ENO3):c.518T>G (p.Val173Gly)
|
rs1597702371
|
|
NM_053013.4(ENO3):c.524C>T (p.Ala175Val)
|
|
|
NM_053013.4(ENO3):c.544A>G (p.Met182Val)
|
rs1401088566
|
|
NM_053013.4(ENO3):c.547C>T (p.Arg183Cys)
|
|
|
NM_053013.4(ENO3):c.556G>A (p.Ala186Thr)
|
|
|
NM_053013.4(ENO3):c.563T>C (p.Val188Ala)
|
|
|
NM_053013.4(ENO3):c.56C>T (p.Thr19Met)
|
|
|
NM_053013.4(ENO3):c.573C>A (p.His191Gln)
|
|
|
NM_053013.4(ENO3):c.613A>G (p.Thr205Ala)
|
|
|
NM_053013.4(ENO3):c.623G>C (p.Gly208Ala)
|
|
|
NM_053013.4(ENO3):c.639C>A (p.Phe213Leu)
|
rs373847361
|
|
NM_053013.4(ENO3):c.662A>G (p.Asn221Ser)
|
|
|
NM_053013.4(ENO3):c.692_707dup (p.Asp238fs)
|
rs757486701
|
|
NM_053013.4(ENO3):c.710C>G (p.Pro237Arg)
|
|
|
NM_053013.4(ENO3):c.710del (p.Pro237fs)
|
rs778664924
|
|
NM_053013.4(ENO3):c.758G>A (p.Arg253His)
|
|
|
NM_053013.4(ENO3):c.771C>G (p.Tyr257Ter)
|
|
|
NM_053013.4(ENO3):c.772G>A (p.Asp258Asn)
|
rs772780015
|
|
NM_053013.4(ENO3):c.772G>T (p.Asp258Tyr)
|
|
|
NM_053013.4(ENO3):c.77C>A (p.Thr26Lys)
|
rs199677913
|
|
NM_053013.4(ENO3):c.77C>T (p.Thr26Met)
|
rs199677913
|
|
NM_053013.4(ENO3):c.788C>T (p.Ser263Leu)
|
rs748865733
|
|
NM_053013.4(ENO3):c.802G>A (p.Ala268Thr)
|
|
|
NM_053013.4(ENO3):c.829G>A (p.Gly277Arg)
|
|
|
NM_053013.4(ENO3):c.834del (p.Glu278fs)
|
rs779920188
|
|
NM_053013.4(ENO3):c.846C>G (p.Ser282Arg)
|
|
|
NM_053013.4(ENO3):c.85+4A>T
|
|
|
NM_053013.4(ENO3):c.877G>A (p.Glu293Lys)
|
|
|
NM_053013.4(ENO3):c.88C>T (p.Arg30Ter)
|
|
|
NM_053013.4(ENO3):c.910del (p.Trp304fs)
|
|
|
NM_053013.4(ENO3):c.914C>T (p.Thr305Ile)
|
|
|
NM_053013.4(ENO3):c.926C>T (p.Ser309Leu)
|
|
|
NM_053013.4(ENO3):c.92T>A (p.Phe31Tyr)
|
|
|
NM_053013.4(ENO3):c.931G>T (p.Val311Leu)
|
|
|
NM_053013.4(ENO3):c.94C>T (p.Arg32Ter)
|
|
|
NM_053013.4(ENO3):c.95G>A (p.Arg32Gln)
|
|
|
NM_053013.4(ENO3):c.981G>C (p.Arg327Ser)
|
|
|
NM_080749.4(NEURL2):c.-92del
|
rs554760054
|
|
NM_138413.4(HOGA1):c.*1059A>C
|
rs886047524
|
|
NM_138413.4(HOGA1):c.*186C>A
|
rs576078709
|
|
NM_138413.4(HOGA1):c.*204T>A
|
rs886047519
|
|
NM_138413.4(HOGA1):c.*288A>C
|
rs886047520
|
|
NM_138413.4(HOGA1):c.*291C>T
|
rs1451536369
|
|
NM_138413.4(HOGA1):c.*350dup
|
rs1554875325
|
|
NM_138413.4(HOGA1):c.*353_*354dup
|
rs5787248
|
|
NM_138413.4(HOGA1):c.*354dup
|
rs5787248
|
|
NM_138413.4(HOGA1):c.*359dup
|
rs561998392
|
|
NM_138413.4(HOGA1):c.*381AG[1]
|
rs886047523
|
|
NM_138413.4(HOGA1):c.*391T>C
|
rs2041201199
|
|
NM_138413.4(HOGA1):c.*427G>A
|
rs181759217
|
|
NM_138413.4(HOGA1):c.*485C>T
|
rs553100036
|
|
NM_138413.4(HOGA1):c.*592C>G
|
rs573565860
|
|
NM_138413.4(HOGA1):c.*592C>T
|
rs573565860
|
|
NM_138413.4(HOGA1):c.*665C>T
|
rs2041204731
|
|
NM_138413.4(HOGA1):c.*733C>T
|
rs764120248
|
|
NM_138413.4(HOGA1):c.*803A>G
|
rs542605022
|
|
NM_138413.4(HOGA1):c.*887C>G
|
rs2041206041
|
|
NM_138413.4(HOGA1):c.*937C>T
|
rs532737566
|
|
NM_138413.4(HOGA1):c.103A>G (p.Ile35Val)
|
|
|
NM_138413.4(HOGA1):c.110G>T (p.Gly37Val)
|
rs772722925
|
|
NM_138413.4(HOGA1):c.134C>G (p.Pro45Arg)
|
rs764396564
|
|
NM_138413.4(HOGA1):c.134C>T (p.Pro45Leu)
|
rs764396564
|
|
NM_138413.4(HOGA1):c.139A>C (p.Thr47Pro)
|
rs1221444661
|
|
NM_138413.4(HOGA1):c.153G>T (p.Glu51Asp)
|
rs1347221993
|
|
NM_138413.4(HOGA1):c.18C>T (p.Val6=)
|
rs1589899135
|
|
NM_138413.4(HOGA1):c.200T>G (p.Phe67Cys)
|
|
|
NM_138413.4(HOGA1):c.20G>C (p.Trp7Ser)
|
|
|
NM_138413.4(HOGA1):c.22TCT[1] (p.Ser9del)
|
rs1554872338
|
|
NM_138413.4(HOGA1):c.337G>A (p.Glu113Lys)
|
rs150702945
|
|
NM_138413.4(HOGA1):c.341-82del
|
rs796052083
|
|
NM_138413.4(HOGA1):c.341-8T>C
|
rs2041094866
|
|
NM_138413.4(HOGA1):c.344C>G (p.Thr115Ser)
|
rs2041094955
|
|
NM_138413.4(HOGA1):c.365C>T (p.Thr122Ile)
|
|
|
NM_138413.4(HOGA1):c.41T>A (p.Leu14Gln)
|
|
|
NM_138413.4(HOGA1):c.469-13C>T
|
rs750664684
|
|
NM_138413.4(HOGA1):c.477T>C (p.Asp159=)
|
rs2041100859
|
|
NM_138413.4(HOGA1):c.485C>T (p.Pro162Leu)
|
|
|
NM_138413.4(HOGA1):c.535C>A (p.Pro179Thr)
|
rs374327791
|
|
NM_138413.4(HOGA1):c.535C>T (p.Pro179Ser)
|
|
|
NM_138413.4(HOGA1):c.541G>C (p.Asp181His)
|
|
|
NM_138413.4(HOGA1):c.584T>C (p.Met195Thr)
|
|
|
NM_138413.4(HOGA1):c.599G>A (p.Gly200Asp)
|
|
|
NM_138413.4(HOGA1):c.604-4G>T
|
rs2041104477
|
|
NM_138413.4(HOGA1):c.64G>A (p.Val22Met)
|
rs1425518232
|
|
NM_138413.4(HOGA1):c.661G>A (p.Ala221Thr)
|
rs2041104991
|
|
NM_138413.4(HOGA1):c.661G>C (p.Ala221Pro)
|
|
|
NM_138413.4(HOGA1):c.713del (p.Gly238fs)
|
rs760930050
|
|
NM_138413.4(HOGA1):c.752G>C (p.Cys251Ser)
|
rs886047518
|
|
NM_138413.4(HOGA1):c.776C>T (p.Thr259Met)
|
rs144103035
|
|
NM_138413.4(HOGA1):c.793G>A (p.Ala265Thr)
|
|
|
NM_138413.4(HOGA1):c.834G>T (p.Ala278=)
|
rs770050262
|
|
NM_138413.4(HOGA1):c.835-7T>A
|
rs768061627
|
|
NM_138413.4(HOGA1):c.872T>C (p.Ile291Thr)
|
rs1554875257
|
|
NM_138413.4(HOGA1):c.91AAG[1] (p.Lys32del)
|
rs750736378
|
|
NM_138775.3(ALKBH8):c.1369_1379delinsTCA (p.Val457fs)
|
|
|
NM_138775.3(ALKBH8):c.1442G>A (p.Arg481His)
|
rs532327456
|
|
NM_138775.3(ALKBH8):c.1874G>A (p.Arg625His)
|
|
|
NM_144563.3(RPIA):c.*134A>C
|
rs892159755
|
|
NM_144563.3(RPIA):c.*281A>G
|
rs1052569032
|
|
NM_144563.3(RPIA):c.*291del
|
rs113052379
|
|
NM_144563.3(RPIA):c.*635A>G
|
rs150350485
|
|
NM_144563.3(RPIA):c.*807C>G
|
rs886056426
|
|
NM_144563.3(RPIA):c.-17C>A
|
rs776488875
|
|
NM_144563.3(RPIA):c.177C>T (p.Ser59=)
|
rs1676938837
|
|
NM_144563.3(RPIA):c.493G>A (p.Val165Ile)
|
rs886056422
|
|
NM_144563.3(RPIA):c.738+18del
|
rs750253754
|
|
NM_145262.4(GLYCTK):c.112G>A (p.Ala38Thr)
|
rs1700426072
|
|
NM_145262.4(GLYCTK):c.1132G>A (p.Ala378Thr)
|
|
|
NM_145262.4(GLYCTK):c.304G>A (p.Gly102Ser)
|
rs558300707
|
|
NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter)
|
|
|
NM_145262.4(GLYCTK):c.550C>T (p.Pro184Ser)
|
rs1379123977
|
|
NM_145262.4(GLYCTK):c.60_62del (p.Trp21del)
|
rs1553621315
|
|
NM_145262.4(GLYCTK):c.967G>A (p.Ala323Thr)
|
|
|
NM_145886.4(PIDD1):c.2044C>T (p.Arg682Cys)
|
|
|
NM_152419.3(HGSNAT):c.*1026G>C
|
rs533282054
|
|
NM_152419.3(HGSNAT):c.*1100_*1103del
|
rs886062959
|
|
NM_152419.3(HGSNAT):c.*1204C>A
|
rs763225051
|
|
NM_152419.3(HGSNAT):c.*1214C>A
|
rs1250097718
|
|
NM_152419.3(HGSNAT):c.*1219G>A
|
rs989915640
|
|
NM_152419.3(HGSNAT):c.*1331T>A
|
rs543569352
|
|
NM_152419.3(HGSNAT):c.*1584A>G
|
rs1804905348
|
|
NM_152419.3(HGSNAT):c.*1696T>G
|
rs1278712308
|
|
NM_152419.3(HGSNAT):c.*1750C>T
|
rs886062961
|
|
NM_152419.3(HGSNAT):c.*1925A>G
|
rs1804916088
|
|
NM_152419.3(HGSNAT):c.*196T>G
|
rs886062956
|
|
NM_152419.3(HGSNAT):c.*2434G>A
|
rs1804930624
|
|
NM_152419.3(HGSNAT):c.*2620A>C
|
rs1804936973
|
|
NM_152419.3(HGSNAT):c.*2806G>C
|
rs541393074
|
|
NM_152419.3(HGSNAT):c.*2950A>G
|
rs1804948886
|
|
NM_152419.3(HGSNAT):c.*3044dup
|
rs886062965
|
|
NM_152419.3(HGSNAT):c.*574C>G
|
rs1804870887
|
|
NM_152419.3(HGSNAT):c.*581T>C
|
rs772452020
|
|
NM_152419.3(HGSNAT):c.*612A>C
|
rs1325231089
|
|
NM_152419.3(HGSNAT):c.*857C>T
|
rs143991538
|
|
NM_152419.3(HGSNAT):c.1006G>A (p.Gly336Ser)
|
|
|
NM_152419.3(HGSNAT):c.1006G>T (p.Gly336Cys)
|
rs2130766732
|
|
NM_152419.3(HGSNAT):c.1012+2dup
|
rs1554533241
|
|
NM_152419.3(HGSNAT):c.1012T>G (p.Leu338Val)
|
|
|
NM_152419.3(HGSNAT):c.1027G>A (p.Val343Met)
|
|
|
NM_152419.3(HGSNAT):c.1027G>T (p.Val343Leu)
|
rs1276314637
|
|
NM_152419.3(HGSNAT):c.1033A>G (p.Ile345Val)
|
rs2130783652
|
|
NM_152419.3(HGSNAT):c.1042G>A (p.Val348Met)
|
rs1318217031
|
|
NM_152419.3(HGSNAT):c.1052G>A (p.Arg351Gln)
|
rs1299209150
|
|
NM_152419.3(HGSNAT):c.1052G>T (p.Arg351Leu)
|
rs1299209150
|
|
NM_152419.3(HGSNAT):c.1069T>C (p.Phe357Leu)
|
rs2130783774
|
|
NM_152419.3(HGSNAT):c.1080T>G (p.Ala360=)
|
rs757385876
|
|
NM_152419.3(HGSNAT):c.1088A>G (p.Glu363Gly)
|
|
|
NM_152419.3(HGSNAT):c.1106C>G (p.Pro369Arg)
|
rs2130783868
|
|
NM_152419.3(HGSNAT):c.110C>G (p.Pro37Arg)
|
rs1465935790
|
|
NM_152419.3(HGSNAT):c.1112C>T (p.Pro371Leu)
|
rs1804152812
|
|
NM_152419.3(HGSNAT):c.1128G>T (p.Ser376=)
|
rs770462636
|
|
NM_152419.3(HGSNAT):c.1132A>T (p.Arg378Trp)
|
rs2130805062
|
|
NM_152419.3(HGSNAT):c.1133G>C (p.Arg378Thr)
|
|
|
NM_152419.3(HGSNAT):c.1134G>T (p.Arg378Ser)
|
|
|
NM_152419.3(HGSNAT):c.1151G>T (p.Arg384Leu)
|
rs377486419
|
|
NM_152419.3(HGSNAT):c.1155C>G (p.Asp385Glu)
|
|
|
NM_152419.3(HGSNAT):c.1172C>T (p.Pro391Leu)
|
rs1804527192
|
|
NM_152419.3(HGSNAT):c.1175A>T (p.Gln392Leu)
|
rs772905027
|
|
NM_152419.3(HGSNAT):c.117A>C (p.Arg39=)
|
rs1802484828
|
|
NM_152419.3(HGSNAT):c.1180C>A (p.Leu394Met)
|
rs1335612982
|
|
NM_152419.3(HGSNAT):c.1185_1196del (p.Ile396_Leu399del)
|
|
|
NM_152419.3(HGSNAT):c.1225C>T (p.Leu409Phe)
|
|
|
NM_152419.3(HGSNAT):c.1237C>G (p.Pro413Ala)
|
rs201346206
|
|
NM_152419.3(HGSNAT):c.1255T>C (p.Tyr419His)
|
rs1220333666
|
|
NM_152419.3(HGSNAT):c.1256A>G (p.Tyr419Cys)
|
|
|
NM_152419.3(HGSNAT):c.1265C>G (p.Pro422Arg)
|
|
|
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)
|
rs1064795522
|
|
NM_152419.3(HGSNAT):c.1269G>A (p.Gly423=)
|
rs2130807297
|
|
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser)
|
rs747616932
|
|
NM_152419.3(HGSNAT):c.1271G>A (p.Gly424Asp)
|
rs2130807313
|
|
NM_152419.3(HGSNAT):c.1283T>G (p.Phe428Cys)
|
rs777276988
|
|
NM_152419.3(HGSNAT):c.1291T>C (p.Tyr431His)
|
|
|
NM_152419.3(HGSNAT):c.1312G>A (p.Ala438Thr)
|
|
|
NM_152419.3(HGSNAT):c.1316C>G (p.Ala439Gly)
|
rs1804567846
|
|
NM_152419.3(HGSNAT):c.1327G>A (p.Asp443Asn)
|
|
|
NM_152419.3(HGSNAT):c.1330C>G (p.Arg444Gly)
|
rs763301637
|
|
NM_152419.3(HGSNAT):c.1330C>T (p.Arg444Cys)
|
rs763301637
|
|
NM_152419.3(HGSNAT):c.1356_1358del (p.Tyr453del)
|
|
|
NM_152419.3(HGSNAT):c.1358A>G (p.Tyr453Cys)
|
|
|
NM_152419.3(HGSNAT):c.135A>T (p.Arg45Ser)
|
|
|
NM_152419.3(HGSNAT):c.1370C>T (p.Ser457Phe)
|
|
|
NM_152419.3(HGSNAT):c.1378G>A (p.Val460Ile)
|
|
|
NM_152419.3(HGSNAT):c.137A>T (p.His46Leu)
|
rs2130677199
|
|
NM_152419.3(HGSNAT):c.1393G>A (p.Glu465Lys)
|
|
|
NM_152419.3(HGSNAT):c.1396G>A (p.Val466Met)
|
rs1414923802
|
|
NM_152419.3(HGSNAT):c.1411G>C (p.Glu471Gln)
|
rs753355844
|
|
NM_152419.3(HGSNAT):c.1420C>G (p.Leu474Val)
|
rs1804620596
|
|
NM_152419.3(HGSNAT):c.142G>A (p.Glu48Lys)
|
rs1182131036
|
|
NM_152419.3(HGSNAT):c.1433A>C (p.Asn478Thr)
|
|
|
NM_152419.3(HGSNAT):c.1433A>G (p.Asn478Ser)
|
|
|
NM_152419.3(HGSNAT):c.1457G>T (p.Gly486Val)
|
rs1804622640
|
|
NM_152419.3(HGSNAT):c.1465-10T>C
|
rs1804745819
|
|
NM_152419.3(HGSNAT):c.1465-17T>A
|
rs764680385
|
|
NM_152419.3(HGSNAT):c.1465-4_1465-3delinsGA
|
|
|
NM_152419.3(HGSNAT):c.1466C>A (p.Ala489Glu)
|
rs1554537586
|
|
NM_152419.3(HGSNAT):c.14G>T (p.Gly5Val)
|
|
|
NM_152419.3(HGSNAT):c.1516C>G (p.Arg506Gly)
|
|
|
NM_152419.3(HGSNAT):c.1517G>A (p.Arg506Gln)
|
|
|
NM_152419.3(HGSNAT):c.1532G>A (p.Cys511Tyr)
|
|
|
NM_152419.3(HGSNAT):c.1542+4dup
|
rs1401818080
|
|
NM_152419.3(HGSNAT):c.1543-20_1543-7delinsTTTCTGAGATAATAATATAAAATG
|
rs2130821034
|
|
NM_152419.3(HGSNAT):c.154G>A (p.Asp52Asn)
|
rs1802738082
|
|
NM_152419.3(HGSNAT):c.1601A>T (p.Asn534Ile)
|
rs2130821294
|
|
NM_152419.3(HGSNAT):c.1612T>C (p.Trp538Arg)
|
|
|
NM_152419.3(HGSNAT):c.1613+5G>A
|
|
|
NM_152419.3(HGSNAT):c.1616C>G (p.Ser539Cys)
|
rs1372286994
|
|
NM_152419.3(HGSNAT):c.1634C>A (p.Thr545Lys)
|
rs377050184
|
|
NM_152419.3(HGSNAT):c.1643C>T (p.Ser548Phe)
|
rs1804778997
|
|
NM_152419.3(HGSNAT):c.1687_1688delinsAG (p.Val563Arg)
|
rs1563386838
|
|
NM_152419.3(HGSNAT):c.1692G>C (p.Lys564Asn)
|
|
|
NM_152419.3(HGSNAT):c.1703C>A (p.Thr568Lys)
|
|
|
NM_152419.3(HGSNAT):c.1716C>A (p.Phe572Leu)
|
|
|
NM_152419.3(HGSNAT):c.1721A>G (p.Tyr574Cys)
|
rs1177263214
|
|
NM_152419.3(HGSNAT):c.1723C>G (p.Pro575Ala)
|
|
|
NM_152419.3(HGSNAT):c.1723C>T (p.Pro575Ser)
|
rs754143732
|
|
NM_152419.3(HGSNAT):c.1726G>A (p.Gly576Arg)
|
rs1366558211
|
|
NM_152419.3(HGSNAT):c.1727-3A>C
|
|
|
NM_152419.3(HGSNAT):c.1732A>T (p.Asn578Tyr)
|
|
|
NM_152419.3(HGSNAT):c.1742T>C (p.Leu581Pro)
|
|
|
NM_152419.3(HGSNAT):c.1749_1750inv (p.Val584Ile)
|
|
|
NM_152419.3(HGSNAT):c.174C>G (p.Ile58Met)
|
rs749911696
|
|
NM_152419.3(HGSNAT):c.1752C>A (p.Val584=)
|
|
|
NM_152419.3(HGSNAT):c.1753G>A (p.Gly585Ser)
|
|
|
NM_152419.3(HGSNAT):c.1753G>C (p.Gly585Arg)
|
rs376476836
|
|
NM_152419.3(HGSNAT):c.1762G>A (p.Val588Met)
|
|
|
NM_152419.3(HGSNAT):c.1772A>C (p.Asn591Thr)
|
rs1804845888
|
|
NM_152419.3(HGSNAT):c.1775A>G (p.Tyr592Cys)
|
|
|
NM_152419.3(HGSNAT):c.1782_1815del (p.Phe595fs)
|
rs1298170960
|
|
NM_152419.3(HGSNAT):c.1786C>T (p.Gln596Ter)
|
rs750824770
|
|
NM_152419.3(HGSNAT):c.1789T>G (p.Trp597Gly)
|
|
|
NM_152419.3(HGSNAT):c.1796T>C (p.Leu599Pro)
|
rs928930218
|
|
NM_152419.3(HGSNAT):c.1801G>C (p.Asp601His)
|
|
|
NM_152419.3(HGSNAT):c.1837A>G (p.Ile613Val)
|
rs1266245327
|
|
NM_152419.3(HGSNAT):c.1839C>G (p.Ile613Met)
|
|
|
NM_152419.3(HGSNAT):c.1856G>C (p.Trp619Ser)
|
rs1563388121
|
|
NM_152419.3(HGSNAT):c.1857G>A (p.Trp619Ter)
|
rs1554538302
|
|
NM_152419.3(HGSNAT):c.1858G>A (p.Val620Met)
|
rs1413168448
|
|
NM_152419.3(HGSNAT):c.1863del (p.Ile622fs)
|
rs1554538306
|
|
NM_152419.3(HGSNAT):c.1864A>G (p.Ile622Val)
|
rs2130825945
|
|
NM_152419.3(HGSNAT):c.1870T>C (p.Tyr624His)
|
|
|
NM_152419.3(HGSNAT):c.1885A>C (p.Lys629Gln)
|
|
|
NM_152419.3(HGSNAT):c.1886A>G (p.Lys629Arg)
|
rs1804852352
|
|
NM_152419.3(HGSNAT):c.1886AGA[1] (p.Lys630del)
|
rs778163262
|
|
NM_152419.3(HGSNAT):c.1892T>C (p.Ile631Thr)
|
|
|
NM_152419.3(HGSNAT):c.1901A>C (p.Lys634Thr)
|
rs2130826037
|
|
NM_152419.3(HGSNAT):c.199_200insCAT (p.Asn66_Leu67insSer)
|
rs1409093216
|
|
NM_152419.3(HGSNAT):c.204C>A (p.Thr68=)
|
rs199816365
|
|
NM_152419.3(HGSNAT):c.218C>T (p.Ser73Phe)
|
|
|
NM_152419.3(HGSNAT):c.232C>G (p.His78Asp)
|
rs1802741553
|
|
NM_152419.3(HGSNAT):c.234+5G>A
|
|
|
NM_152419.3(HGSNAT):c.235-9T>G
|
rs913764481
|
|
NM_152419.3(HGSNAT):c.235T>C (p.Cys79Arg)
|
rs1803164820
|
|
NM_152419.3(HGSNAT):c.239T>C (p.Leu80Ser)
|
|
|
NM_152419.3(HGSNAT):c.253G>A (p.Val85Ile)
|
|
|
NM_152419.3(HGSNAT):c.260T>G (p.Val87Gly)
|
rs2130713856
|
|
NM_152419.3(HGSNAT):c.263C>T (p.Pro88Leu)
|
|
|
NM_152419.3(HGSNAT):c.268A>G (p.Ser90Gly)
|
rs764229375
|
|
NM_152419.3(HGSNAT):c.278C>G (p.Ala93Gly)
|
rs372055513
|
|
NM_152419.3(HGSNAT):c.284A>C (p.Lys95Thr)
|
rs374071098
|
|
NM_152419.3(HGSNAT):c.284A>G (p.Lys95Arg)
|
rs374071098
|
|
NM_152419.3(HGSNAT):c.28G>C (p.Ala10Pro)
|
|
|
NM_152419.3(HGSNAT):c.302C>T (p.Ala101Val)
|
|
|
NM_152419.3(HGSNAT):c.311G>A (p.Ser104Asn)
|
rs1586712145
|
|
NM_152419.3(HGSNAT):c.31_45del (p.Leu11_Ala15del)
|
rs1274083689
|
|
NM_152419.3(HGSNAT):c.349T>G (p.Leu117Val)
|
|
|
NM_152419.3(HGSNAT):c.34_54dup (p.Leu12_Leu18dup)
|
rs961025173
|
|
NM_152419.3(HGSNAT):c.371+5G>T
|
|
|
NM_152419.3(HGSNAT):c.371G>A (p.Arg124Lys)
|
rs1803172725
|
|
NM_152419.3(HGSNAT):c.375G>A (p.Leu125=)
|
rs2130715134
|
|
NM_152419.3(HGSNAT):c.386T>C (p.Phe129Ser)
|
rs1803180920
|
|
NM_152419.3(HGSNAT):c.387T>A (p.Phe129Leu)
|
rs932582298
|
|
NM_152419.3(HGSNAT):c.395T>C (p.Phe132Ser)
|
rs769984670
|
|
NM_152419.3(HGSNAT):c.402C>G (p.Asn134Lys)
|
rs2130715230
|
|
NM_152419.3(HGSNAT):c.409C>G (p.Leu137Val)
|
|
|
NM_152419.3(HGSNAT):c.409C>T (p.Leu137Phe)
|
rs773170952
|
|
NM_152419.3(HGSNAT):c.41C>T (p.Ala14Val)
|
rs2130647887
|
|
NM_152419.3(HGSNAT):c.429_432delinsA (p.His143_Asn144delinsGln)
|
rs1554529803
|
|
NM_152419.3(HGSNAT):c.437T>C (p.Val146Ala)
|
|
|
NM_152419.3(HGSNAT):c.43_44delinsTT (p.Ala15Leu)
|
rs2130647901
|
|
NM_152419.3(HGSNAT):c.43_72del (p.Ala15_Ala24del)
|
rs2130647831
|
|
NM_152419.3(HGSNAT):c.452G>C (p.Cys151Ser)
|
rs1803184135
|
|
NM_152419.3(HGSNAT):c.458T>C (p.Leu153Pro)
|
|
|
NM_152419.3(HGSNAT):c.467A>G (p.Asn156Ser)
|
|
|
NM_152419.3(HGSNAT):c.469G>A (p.Glu157Lys)
|
rs553837106
|
|
NM_152419.3(HGSNAT):c.475C>T (p.Pro159Ser)
|
|
|
NM_152419.3(HGSNAT):c.490C>T (p.Leu164Phe)
|
rs2130715697
|
|
NM_152419.3(HGSNAT):c.493+4C>G
|
|
|
NM_152419.3(HGSNAT):c.515T>C (p.Ile172Thr)
|
rs750046807
|
|
NM_152419.3(HGSNAT):c.52C>G (p.Leu18Val)
|
|
|
NM_152419.3(HGSNAT):c.531C>G (p.Ile177Met)
|
|
|
NM_152419.3(HGSNAT):c.540A>G (p.Ile180Met)
|
rs1195940980
|
|
NM_152419.3(HGSNAT):c.542C>G (p.Ser181Cys)
|
|
|
NM_152419.3(HGSNAT):c.548T>G (p.Leu183Arg)
|
|
|
NM_152419.3(HGSNAT):c.559T>G (p.Leu187Val)
|
|
|
NM_152419.3(HGSNAT):c.55_66dup (p.Ser19_Leu22dup)
|
rs1303048852
|
|
NM_152419.3(HGSNAT):c.563G>A (p.Ser188Asn)
|
rs2130722111
|
|
NM_152419.3(HGSNAT):c.580A>C (p.Asn194His)
|
|
|
NM_152419.3(HGSNAT):c.599T>A (p.Ile200Lys)
|
|
|
NM_152419.3(HGSNAT):c.604T>C (p.Ser202Pro)
|
|
|
NM_152419.3(HGSNAT):c.604_605delinsAA (p.Ser202Asn)
|
|
|
NM_152419.3(HGSNAT):c.605C>G (p.Ser202Cys)
|
rs1385208624
|
|
NM_152419.3(HGSNAT):c.614C>A (p.Thr205Asn)
|
rs1454265686
|
|
NM_152419.3(HGSNAT):c.620G>A (p.Arg207His)
|
|
|
NM_152419.3(HGSNAT):c.64C>G (p.Leu22Val)
|
|
|
NM_152419.3(HGSNAT):c.653G>A (p.Arg218Lys)
|
|
|
NM_152419.3(HGSNAT):c.667G>C (p.Asp223His)
|
rs1025285008
|
|
NM_152419.3(HGSNAT):c.671_673dup (p.Gly224dup)
|
rs1554531686
|
|
NM_152419.3(HGSNAT):c.675T>G (p.Asp225Glu)
|
|
|
NM_152419.3(HGSNAT):c.680A>G (p.Gln227Arg)
|
|
|
NM_152419.3(HGSNAT):c.685G>A (p.Ala229Thr)
|
rs1803593895
|
|
NM_152419.3(HGSNAT):c.701C>G (p.Ser234Cys)
|
rs1586725294
|
|
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)
|
rs727503962
|
|
NM_152419.3(HGSNAT):c.710C>T (p.Pro237Leu)
|
rs727503962
|
|
NM_152419.3(HGSNAT):c.725G>A (p.Ser242Asn)
|
rs2130746199
|
|
NM_152419.3(HGSNAT):c.727G>A (p.Val243Met)
|
|
|
NM_152419.3(HGSNAT):c.743+4T>C
|
rs765682296
|
|
NM_152419.3(HGSNAT):c.743G>C (p.Gly248Ala)
|
rs1324238938
|
|
NM_152419.3(HGSNAT):c.743G>T (p.Gly248Val)
|
rs1324238938
|
|
NM_152419.3(HGSNAT):c.744-16T>C
|
|
|
NM_152419.3(HGSNAT):c.74C>G (p.Pro25Arg)
|
rs2130648242
|
|
NM_152419.3(HGSNAT):c.756_761del (p.Ile252_Leu253del)
|
rs2130750552
|
|
NM_152419.3(HGSNAT):c.757C>G (p.Leu253Val)
|
rs2130750568
|
|
NM_152419.3(HGSNAT):c.778G>A (p.Gly260Arg)
|
rs2130750679
|
|
NM_152419.3(HGSNAT):c.819T>G (p.Asn273Lys)
|
rs1554532014
|
|
NM_152419.3(HGSNAT):c.820+6A>G
|
|
|
NM_152419.3(HGSNAT):c.82T>C (p.Ser28Pro)
|
rs1802482509
|
|
NM_152419.3(HGSNAT):c.851+10C>T
|
rs778394235
|
|
NM_152419.3(HGSNAT):c.877A>G (p.Ile293Val)
|
|
|
NM_152419.3(HGSNAT):c.89G>A (p.Gly30Glu)
|
rs1490698793
|
|
NM_152419.3(HGSNAT):c.8G>C (p.Gly3Ala)
|
|
|
NM_152419.3(HGSNAT):c.900A>G (p.Ile300Met)
|
|
|
NM_152419.3(HGSNAT):c.906A>T (p.Gln302His)
|
rs886062954
|
|
NM_152419.3(HGSNAT):c.908G>A (p.Arg303Gln)
|
|
|
NM_152419.3(HGSNAT):c.936G>T (p.Gly312=)
|
|
|
NM_152419.3(HGSNAT):c.945_946delinsTC (p.Trp316Arg)
|
|
|
NM_152419.3(HGSNAT):c.952A>C (p.Ser318Arg)
|
|
|
NM_152419.3(HGSNAT):c.96T>A (p.Asp32Glu)
|
|
|
NM_152419.3(HGSNAT):c.981_983del (p.Ile328del)
|
rs752374933
|
|
NM_152419.3(HGSNAT):c.983T>C (p.Ile328Thr)
|
rs906833070
|
|
NM_152419.3(HGSNAT):c.986T>C (p.Val329Ala)
|
|
|
NM_152419.3(HGSNAT):c.98C>T (p.Ala33Val)
|
rs1802483575
|
|
NM_152419.3(HGSNAT):c.994A>G (p.Asn332Asp)
|
|
|
NM_153281.2(HYAL1):c.-237A>T
|
rs1702408973
|
|
NM_153281.2(HYAL1):c.-310+12dup
|
rs886058696
|
|
NM_153281.2(HYAL1):c.-384G>A
|
rs886058698
|
|
NM_153747.2(PIGC):c.138C>A (p.Tyr46Ter)
|
rs375570541
|
|
NM_153747.2(PIGC):c.223A>G (p.Met75Val)
|
|
|
NM_153747.2(PIGC):c.659T>C (p.Leu220Pro)
|
rs786205667
|
|
NM_175914.5(HNF4A):c.*1089del
|
rs749515492
|
|
NM_175914.5(HNF4A):c.*1106G>A
|
rs753675648
|
|
NM_175914.5(HNF4A):c.*1291TCCTCCCT[1]
|
rs3834658
|
|
NM_175914.5(HNF4A):c.*145T>A
|
rs200905283
|
|
NM_175914.5(HNF4A):c.*1809C>G
|
rs2063876979
|
|
NM_175914.5(HNF4A):c.*1826G>A
|
rs1763003018
|
|
NM_175914.5(HNF4A):c.*2167T>G
|
rs886056687
|
|
NM_175914.5(HNF4A):c.*217C>T
|
rs1019701119
|
|
NM_175914.5(HNF4A):c.*226C>A
|
rs886056680
|
|
NM_175914.5(HNF4A):c.*2600T>C
|
rs886056689
|
|
NM_175914.5(HNF4A):c.*2674_*2675del
|
rs886056691
|
|
NM_175914.5(HNF4A):c.*2676dup
|
rs886056692
|
|
NM_175914.5(HNF4A):c.*2677_*2683del
|
rs886056693
|
|
NM_175914.5(HNF4A):c.*2677dup
|
rs886056694
|
|
NM_175914.5(HNF4A):c.*2678_*2679insTT
|
rs761222838
|
|
NM_175914.5(HNF4A):c.*2678dup
|
rs761222838
|
|
NM_175914.5(HNF4A):c.*2679del
|
rs886056695
|
|
NM_175914.5(HNF4A):c.*2698_*2703dup
|
rs11450239
|
|
NM_175914.5(HNF4A):c.*2698_*2704del
|
rs886056697
|
|
NM_175914.5(HNF4A):c.*2703del
|
rs11450239
|
|
NM_175914.5(HNF4A):c.*2703dup
|
rs11450239
|
|
NM_175914.5(HNF4A):c.*2707del
|
rs886056698
|
|
NM_175914.5(HNF4A):c.*2707dup
|
rs886056699
|
|
NM_175914.5(HNF4A):c.*2761G>C
|
rs1212257046
|
|
NM_175914.5(HNF4A):c.*2777del
|
rs886056700
|
|
NM_175914.5(HNF4A):c.*2782A>C
|
rs1192263020
|
|
NM_175914.5(HNF4A):c.*2796AC[1]
|
rs548863430
|
|
NM_175914.5(HNF4A):c.*3024C>T
|
rs886056702
|
|
NM_175914.5(HNF4A):c.*3052G>A
|
rs546761850
|
|
NM_175914.5(HNF4A):c.*3104A>C
|
rs886056703
|
|
NM_175914.5(HNF4A):c.*35C>A
|
rs1019496764
|
|
NM_175914.5(HNF4A):c.*965G>T
|
rs886056683
|
|
NM_175914.5(HNF4A):c.*987G>T
|
rs886056684
|
|
NM_175914.5(HNF4A):c.*993G>A
|
rs2063867733
|
|
NM_175914.5(HNF4A):c.101T>A (p.Val34Asp)
|
rs2063496235
|
|
NM_175914.5(HNF4A):c.1118A>G (p.Gln373Arg)
|
|
|
NM_175914.5(HNF4A):c.1127T>G (p.Met376Arg)
|
rs199956600
|
|
NM_175914.5(HNF4A):c.128A>G (p.Asp43Gly)
|
|
|
NM_175914.5(HNF4A):c.1290C>T (p.Ala430=)
|
rs530389600
|
|
NM_175914.5(HNF4A):c.224+17dup
|
rs371937621
|
|
NM_175914.5(HNF4A):c.224G>A (p.Arg75Lys)
|
rs1131692187
|
|
NM_175914.5(HNF4A):c.241G>T (p.Val81Leu)
|
|
|
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr)
|
rs1229650809
|
|
NM_175914.5(HNF4A):c.305G>A (p.Gly102Asp)
|
|
|
NM_175914.5(HNF4A):c.407C>T (p.Ala136Val)
|
|
|
NM_175914.5(HNF4A):c.422G>A (p.Arg141Gln)
|
rs765237979
|
|
NM_175914.5(HNF4A):c.426G>A (p.Gln142=)
|
|
|
NM_175914.5(HNF4A):c.426G>C (p.Gln142His)
|
|
|
NM_175914.5(HNF4A):c.427A>G (p.Ile143Val)
|
rs368759794
|
|
NM_175914.5(HNF4A):c.50-4560G>A
|
rs1254732171
|
|
NM_175914.5(HNF4A):c.50-4560G>T
|
rs1254732171
|
|
NM_175914.5(HNF4A):c.50-4589G>A
|
|
|
NM_175914.5(HNF4A):c.50-4630T>C
|
rs2063407237
|
|
NM_175914.5(HNF4A):c.50-4682C>T
|
|
|
NM_175914.5(HNF4A):c.50-4791_50-4788del
|
rs886056679
|
|
NM_175914.5(HNF4A):c.502T>C (p.Ser168Pro)
|
|
|
NM_175914.5(HNF4A):c.589C>A (p.Leu197Met)
|
rs1775879070
|
|
NM_175914.5(HNF4A):c.607G>A (p.Gly203Ser)
|
rs2146437968
|
|
NM_175914.5(HNF4A):c.610G>A (p.Glu204Lys)
|
rs753476712
|
|
NM_175914.5(HNF4A):c.622C>T (p.Leu208Phe)
|
|
|
NM_175914.5(HNF4A):c.643A>G (p.Met215Val)
|
|
|
NM_175914.5(HNF4A):c.670+5G>C
|
rs1568735505
|
|
NM_175914.5(HNF4A):c.677A>T (p.Asp226Val)
|
|
|
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp)
|
rs376013528
|
|
NM_175914.5(HNF4A):c.710C>T (p.Ala237Val)
|
|
|
NM_175914.5(HNF4A):c.763C>G (p.Gln255Glu)
|
rs137853334
|
|
NM_175914.5(HNF4A):c.7A>C (p.Ser3Arg)
|
|
|
NM_175914.5(HNF4A):c.926G>T (p.Arg309Leu)
|
rs369429452
|
|
NM_175914.5(HNF4A):c.932G>A (p.Arg311His)
|
rs1375557127
|
|
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del)
|
rs776489992
|
|
NM_175914.5(HNF4A):c.965T>G (p.Leu322Trp)
|
rs2146468795
|
|
NM_178161.3(PTF1A):c.*126_*129del
|
rs533517653
|
|
NM_181503.3(EXOSC8):c.17+1G>T
|
rs1412754843
|
|
NM_181503.3(EXOSC8):c.241C>T (p.Pro81Ser)
|
|
|
NM_181503.3(EXOSC8):c.540_544del (p.Asn180fs)
|
|
|
NM_181503.3(EXOSC8):c.695T>C (p.Leu232Pro)
|
rs1593709247
|
|
NM_181503.3(EXOSC8):c.781G>T (p.Glu261Ter)
|
rs1221939030
|
|
NM_198150.3(ARSK):c.1312C>T (p.Gln438Ter)
|
|
|
NM_198586.3(NHLRC1):c.*153A>T
|
rs895212001
|
|
NM_198586.3(NHLRC1):c.*175T>C
|
rs1783727115
|
|
NM_198586.3(NHLRC1):c.*248C>A
|
rs182779486
|
|
NM_198586.3(NHLRC1):c.*248C>G
|
rs182779486
|
|
NM_198586.3(NHLRC1):c.*327G>C
|
rs375143655
|
|
NM_198586.3(NHLRC1):c.*358_*361del
|
rs550375620
|
|
NM_198586.3(NHLRC1):c.*406A>G
|
rs886061251
|
|
NM_198586.3(NHLRC1):c.*662C>G
|
rs150615281
|
|
NM_198586.3(NHLRC1):c.*875T>A
|
rs72839174
|
|
NM_198586.3(NHLRC1):c.1008A>G (p.Ala336=)
|
|
|
NM_198586.3(NHLRC1):c.1034G>A (p.Cys345Tyr)
|
rs781739043
|
|
NM_198586.3(NHLRC1):c.1039G>A (p.Gly347Arg)
|
rs1783733675
|
|
NM_198586.3(NHLRC1):c.1063C>T (p.Pro355Ser)
|
rs1783733228
|
|
NM_198586.3(NHLRC1):c.1076T>G (p.Val359Gly)
|
|
|
NM_198586.3(NHLRC1):c.107G>A (p.Arg36Gln)
|
rs764691077
|
|
NM_198586.3(NHLRC1):c.107G>C (p.Arg36Pro)
|
rs764691077
|
|
NM_198586.3(NHLRC1):c.10G>A (p.Glu4Lys)
|
|
|
NM_198586.3(NHLRC1):c.1109C>A (p.Thr370Asn)
|
rs1422730903
|
|
NM_198586.3(NHLRC1):c.1120G>A (p.Glu374Lys)
|
rs771702699
|
|
NM_198586.3(NHLRC1):c.1183G>A (p.Gly395Arg)
|
rs753959228
|
|
NM_198586.3(NHLRC1):c.1185del (p.Ter396AspextTer?)
|
|
|
NM_198586.3(NHLRC1):c.121C>T (p.Pro41Ser)
|
|
|
NM_198586.3(NHLRC1):c.154C>G (p.Leu52Val)
|
|
|
NM_198586.3(NHLRC1):c.180C>A (p.His60Gln)
|
|
|
NM_198586.3(NHLRC1):c.182C>A (p.Pro61Gln)
|
rs1783757283
|
|
NM_198586.3(NHLRC1):c.182C>T (p.Pro61Leu)
|
rs1783757283
|
|
NM_198586.3(NHLRC1):c.184C>T (p.Arg62Cys)
|
rs761458140
|
|
NM_198586.3(NHLRC1):c.185G>A (p.Arg62His)
|
rs796052754
|
|
NM_198586.3(NHLRC1):c.185G>C (p.Arg62Pro)
|
|
|
NM_198586.3(NHLRC1):c.195C>A (p.Ala65=)
|
rs370573413
|
|
NM_198586.3(NHLRC1):c.199G>A (p.Glu67Lys)
|
rs779507031
|
|
NM_198586.3(NHLRC1):c.203G>C (p.Cys68Ser)
|
rs1783756475
|
|
NM_198586.3(NHLRC1):c.215G>A (p.Arg72Lys)
|
rs1582030466
|
|
NM_198586.3(NHLRC1):c.218G>T (p.Arg73Leu)
|
rs1280991443
|
|
NM_198586.3(NHLRC1):c.226C>T (p.Arg76Trp)
|
|
|
NM_198586.3(NHLRC1):c.227G>A (p.Arg76Gln)
|
|
|
NM_198586.3(NHLRC1):c.23G>A (p.Ser8Asn)
|
rs2150703425
|
|
NM_198586.3(NHLRC1):c.269T>C (p.Ile90Thr)
|
rs1582030401
|
|
NM_198586.3(NHLRC1):c.26G>A (p.Gly9Glu)
|
|
|
NM_198586.3(NHLRC1):c.26G>T (p.Gly9Val)
|
|
|
NM_198586.3(NHLRC1):c.272A>G (p.Glu91Gly)
|
|
|
NM_198586.3(NHLRC1):c.293G>T (p.Arg98Leu)
|
rs1340355518
|
|
NM_198586.3(NHLRC1):c.301C>T (p.Pro101Ser)
|
rs1484414595
|
|
NM_198586.3(NHLRC1):c.307G>A (p.Ala103Thr)
|
rs568131096
|
|
NM_198586.3(NHLRC1):c.314G>T (p.Arg105Leu)
|
rs1166657109
|
|
NM_198586.3(NHLRC1):c.317C>G (p.Ala106Gly)
|
rs1255416149
|
|
NM_198586.3(NHLRC1):c.319G>C (p.Ala107Pro)
|
rs796052755
|
|
NM_198586.3(NHLRC1):c.323C>G (p.Pro108Arg)
|
rs1783752059
|
|
NM_198586.3(NHLRC1):c.34_35delinsGG (p.Leu12Gly)
|
rs2150703412
|
|
NM_198586.3(NHLRC1):c.356C>T (p.Thr119Ile)
|
rs1783751214
|
|
NM_198586.3(NHLRC1):c.392G>T (p.Gly131Val)
|
rs1783749949
|
|
NM_198586.3(NHLRC1):c.394C>A (p.Leu132Met)
|
rs1367848969
|
|
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr)
|
rs886061254
|
|
NM_198586.3(NHLRC1):c.39T>G (p.His13Gln)
|
rs2150703410
|
|
NM_198586.3(NHLRC1):c.406C>T (p.Pro136Ser)
|
rs1561882043
|
|
NM_198586.3(NHLRC1):c.407C>T (p.Pro136Leu)
|
rs1783749565
|
|
NM_198586.3(NHLRC1):c.423_425del (p.Val144del)
|
rs1783748374
|
|
NM_198586.3(NHLRC1):c.434A>C (p.His145Pro)
|
rs1783748075
|
|
NM_198586.3(NHLRC1):c.449G>A (p.Arg150His)
|
rs749599233
|
|
NM_198586.3(NHLRC1):c.452T>A (p.Val151Asp)
|
|
|
NM_198586.3(NHLRC1):c.454A>G (p.Lys152Glu)
|
|
|
NM_198586.3(NHLRC1):c.456G>C (p.Lys152Asn)
|
rs2150703098
|
|
NM_198586.3(NHLRC1):c.469G>A (p.Gly157Arg)
|
|
|
NM_198586.3(NHLRC1):c.470G>A (p.Gly157Glu)
|
rs781300542
|
|
NM_198586.3(NHLRC1):c.485A>C (p.His162Pro)
|
rs1217974765
|
|
NM_198586.3(NHLRC1):c.494G>A (p.Gly165Glu)
|
rs1554136449
|
|
NM_198586.3(NHLRC1):c.4_5delinsAA (p.Ala2Lys)
|
rs796052757
|
|
NM_198586.3(NHLRC1):c.515A>G (p.Gln172Arg)
|
rs1783745635
|
|
NM_198586.3(NHLRC1):c.519C>T (p.Asp173=)
|
|
|
NM_198586.3(NHLRC1):c.52G>A (p.Glu18Lys)
|
rs771805307
|
|
NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala)
|
rs886061253
|
|
NM_198586.3(NHLRC1):c.551A>C (p.Asn184Thr)
|
|
|
NM_198586.3(NHLRC1):c.553G>C (p.Asp185His)
|
|
|
NM_198586.3(NHLRC1):c.565G>T (p.Val189Phe)
|
|
|
NM_198586.3(NHLRC1):c.621C>T (p.Ile207=)
|
|
|
NM_198586.3(NHLRC1):c.637G>A (p.Gly213Ser)
|
rs1783743169
|
|
NM_198586.3(NHLRC1):c.642A>T (p.Gln214His)
|
rs754756237
|
|
NM_198586.3(NHLRC1):c.646T>G (p.Ser216Ala)
|
|
|
NM_198586.3(NHLRC1):c.647_649del (p.Ser216del)
|
|
|
NM_198586.3(NHLRC1):c.659G>T (p.Gly220Val)
|
rs1449381352
|
|
NM_198586.3(NHLRC1):c.677A>T (p.Gln226Leu)
|
rs1783742476
|
|
NM_198586.3(NHLRC1):c.691G>A (p.Val231Ile)
|
rs1060503098
|
|
NM_198586.3(NHLRC1):c.695C>A (p.Thr232Asn)
|
rs371640803
|
|
NM_198586.3(NHLRC1):c.695C>T (p.Thr232Ile)
|
|
|
NM_198586.3(NHLRC1):c.704A>G (p.Glu235Gly)
|
rs1173727000
|
|
NM_198586.3(NHLRC1):c.713C>A (p.Ser238Tyr)
|
rs747276703
|
|
NM_198586.3(NHLRC1):c.716T>C (p.Leu239Pro)
|
|
|
NM_198586.3(NHLRC1):c.729C>G (p.Asp243Glu)
|
rs146420615
|
|
NM_198586.3(NHLRC1):c.733G>A (p.Asp245Asn)
|
rs2150702925
|
|
NM_198586.3(NHLRC1):c.746G>C (p.Gly249Ala)
|
|
|
NM_198586.3(NHLRC1):c.754C>T (p.Arg252Trp)
|
rs1244886517
|
|
NM_198586.3(NHLRC1):c.755G>C (p.Arg252Pro)
|
|
|
NM_198586.3(NHLRC1):c.759A>G (p.Arg253=)
|
|
|
NM_198586.3(NHLRC1):c.76T>G (p.Cys26Gly)
|
|
|
NM_198586.3(NHLRC1):c.775G>T (p.Ala259Ser)
|
rs1783740022
|
|
NM_198586.3(NHLRC1):c.797G>A (p.Gly266Glu)
|
|
|
NM_198586.3(NHLRC1):c.809C>A (p.Ser270Tyr)
|
rs2150702863
|
|
NM_198586.3(NHLRC1):c.820G>A (p.Gly274Arg)
|
rs568213488
|
|
NM_198586.3(NHLRC1):c.820G>C (p.Gly274Arg)
|
rs568213488
|
|
NM_198586.3(NHLRC1):c.827T>C (p.Ile276Thr)
|
|
|
NM_198586.3(NHLRC1):c.845C>G (p.Pro282Arg)
|
rs2150702844
|
|
NM_198586.3(NHLRC1):c.845C>T (p.Pro282Leu)
|
rs2150702844
|
|
NM_198586.3(NHLRC1):c.880G>A (p.Val294Met)
|
|
|
NM_198586.3(NHLRC1):c.893G>T (p.Ser298Ile)
|
rs1783736655
|
|
NM_198586.3(NHLRC1):c.896C>T (p.Ser299Leu)
|
|
|
NM_198586.3(NHLRC1):c.930T>C (p.Phe310=)
|
|
|
NM_198586.3(NHLRC1):c.935T>C (p.Leu312Pro)
|
rs2150702790
|
|
NM_198586.3(NHLRC1):c.943T>A (p.Tyr315Asn)
|
|
|
NM_198586.3(NHLRC1):c.970G>T (p.Ala324Ser)
|
|
|
NM_198586.3(NHLRC1):c.98T>G (p.Phe33Cys)
|
rs757759398
|
|
NM_213606.4(SLC16A12):c.900_901del (p.Phe301fs)
|
rs1564568302
|
|
Single allele
|
|
|