ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17075
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HGVS dbSNP gnomAD frequency
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)
NM_000528.4(MAN2B1):c.2555C>T (p.Ala852Val)
NM_000528.4(MAN2B1):c.2558C>T (p.Ala853Val) rs886054229
NM_000528.4(MAN2B1):c.2572C>T (p.Leu858Phe)
NM_000528.4(MAN2B1):c.2579C>T (p.Ala860Val)
NM_000528.4(MAN2B1):c.2590G>A (p.Val864Ile)
NM_000528.4(MAN2B1):c.259G>A (p.Gly87Arg)
NM_000528.4(MAN2B1):c.2605G>A (p.Val869Met)
NM_000528.4(MAN2B1):c.2618C>A (p.Pro873Gln) rs752022224
NM_000528.4(MAN2B1):c.2618C>T (p.Pro873Leu)
NM_000528.4(MAN2B1):c.2620G>C (p.Gly874Arg)
NM_000528.4(MAN2B1):c.2626G>A (p.Gly876Ser)
NM_000528.4(MAN2B1):c.2640T>A (p.Asn880Lys) rs763786776
NM_000528.4(MAN2B1):c.2657G>A (p.Arg886His)
NM_000528.4(MAN2B1):c.2665-28_2665-9del
NM_000528.4(MAN2B1):c.2674C>A (p.Leu892Met)
NM_000528.4(MAN2B1):c.2675T>C (p.Leu892Pro) rs864621989
NM_000528.4(MAN2B1):c.2678G>A (p.Arg893His)
NM_000528.4(MAN2B1):c.2680A>G (p.Arg894Gly)
NM_000528.4(MAN2B1):c.2690C>T (p.Pro897Leu)
NM_000528.4(MAN2B1):c.2696C>T (p.Ser899Leu)
NM_000528.4(MAN2B1):c.2704C>G (p.Leu902Val) rs1301597273
NM_000528.4(MAN2B1):c.2726G>A (p.Gly909Asp) rs2023720009
NM_000528.4(MAN2B1):c.2736G>C (p.Met912Ile)
NM_000528.4(MAN2B1):c.2740C>A (p.Leu914Met)
NM_000528.4(MAN2B1):c.2746C>T (p.Arg916Cys) rs864621990
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His) rs758765126
NM_000528.4(MAN2B1):c.2748C>T (p.Arg916=) rs1184081650
NM_000528.4(MAN2B1):c.2758C>G (p.Gln920Glu)
NM_000528.4(MAN2B1):c.2767G>T (p.Val923Leu) rs755553683
NM_000528.4(MAN2B1):c.2796C>G (p.Ser932Arg) rs1403072896
NM_000528.4(MAN2B1):c.2797G>A (p.Ala933Thr)
NM_000528.4(MAN2B1):c.281A>G (p.His94Arg)
NM_000528.4(MAN2B1):c.282C>A (p.His94Gln)
NM_000528.4(MAN2B1):c.283G>C (p.Ala95Pro) rs754036398
NM_000528.4(MAN2B1):c.2849G>C (p.Arg950Pro) rs139041112
NM_000528.4(MAN2B1):c.285C>T (p.Ala95=) rs750997069
NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=) rs148108322
NM_000528.4(MAN2B1):c.286G>A (p.Gly96Ser)
NM_000528.4(MAN2B1):c.2870T>C (p.Val957Ala)
NM_000528.4(MAN2B1):c.2879A>G (p.Gln960Arg) rs2023711115
NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=) rs1376771729
NM_000528.4(MAN2B1):c.2885G>C (p.Arg962Pro)
NM_000528.4(MAN2B1):c.2896T>G (p.Ser966Ala) rs1365532315
NM_000528.4(MAN2B1):c.2903T>C (p.Leu968Pro)
NM_000528.4(MAN2B1):c.2912C>T (p.Thr971Ile) rs2023709677
NM_000528.4(MAN2B1):c.2927C>G (p.Pro976Arg)
NM_000528.4(MAN2B1):c.2927C>T (p.Pro976Leu) rs766559062
NM_000528.4(MAN2B1):c.2932C>A (p.Pro978Thr) rs763382948
NM_000528.4(MAN2B1):c.293A>C (p.Gln98Pro)
NM_000528.4(MAN2B1):c.295T>C (p.Tyr99His) rs794727484
NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=) rs886054228
NM_000528.4(MAN2B1):c.2992C>T (p.Arg998Cys)
NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser) rs864621991
NM_000528.4(MAN2B1):c.29T>G (p.Val10Gly) rs1169325876
NM_000528.4(MAN2B1):c.2T>A (p.Met1Lys) rs1555710357
NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr) rs1555710357
NM_000528.4(MAN2B1):c.3002T>C (p.Leu1001Pro)
NM_000528.4(MAN2B1):c.3004G>A (p.Ala1002Thr)
NM_000528.4(MAN2B1):c.3013C>T (p.Gln1005Ter)
NM_000528.4(MAN2B1):c.340C>T (p.Arg114Cys)
NM_000528.4(MAN2B1):c.352T>G (p.Tyr118Asp)
NM_000528.4(MAN2B1):c.376C>T (p.Arg126Cys)
NM_000528.4(MAN2B1):c.415G>A (p.Val139Met)
NM_000528.4(MAN2B1):c.422A>T (p.Asp141Val)
NM_000528.4(MAN2B1):c.427G>A (p.Val143Met)
NM_000528.4(MAN2B1):c.430C>T (p.Arg144Cys)
NM_000528.4(MAN2B1):c.431G>A (p.Arg144His)
NM_000528.4(MAN2B1):c.451G>A (p.Ala151Thr)
NM_000528.4(MAN2B1):c.454A>T (p.Asn152Tyr)
NM_000528.4(MAN2B1):c.461G>A (p.Gly154Asp)
NM_000528.4(MAN2B1):c.496G>A (p.Gly166Ser) rs749680035
NM_000528.4(MAN2B1):c.502A>G (p.Ile168Val)
NM_000528.4(MAN2B1):c.545C>T (p.Thr182Ile)
NM_000528.4(MAN2B1):c.554A>G (p.Asn185Ser)
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg) rs864621977
NM_000528.4(MAN2B1):c.599A>T (p.His200Leu) rs864621978
NM_000528.4(MAN2B1):c.5G>T (p.Gly2Val)
NM_000528.4(MAN2B1):c.604C>A (p.Arg202=)
NM_000528.4(MAN2B1):c.605G>C (p.Arg202Pro) rs864621979
NM_000528.4(MAN2B1):c.630+5G>A
NM_000528.4(MAN2B1):c.639C>G (p.Phe213Leu)
NM_000528.4(MAN2B1):c.639C>T (p.Phe213=) rs886054233
NM_000528.4(MAN2B1):c.640G>A (p.Asp214Asn)
NM_000528.4(MAN2B1):c.640G>C (p.Asp214His)
NM_000528.4(MAN2B1):c.658C>T (p.Arg220Cys)
NM_000528.4(MAN2B1):c.665A>G (p.Asp222Gly)
NM_000528.4(MAN2B1):c.671A>G (p.Gln224Arg)
NM_000528.4(MAN2B1):c.673G>C (p.Asp225His) rs2024165338
NM_000528.4(MAN2B1):c.743C>G (p.Pro248Arg) rs117843968
NM_000528.4(MAN2B1):c.748G>A (p.Ala250Thr)
NM_000528.4(MAN2B1):c.749C>T (p.Ala250Val)
NM_000528.4(MAN2B1):c.752A>T (p.Asp251Val)
NM_000528.4(MAN2B1):c.762T>C (p.Thr254=) rs2024162767
NM_000528.4(MAN2B1):c.763G>C (p.Gly255Arg)
NM_000528.4(MAN2B1):c.776A>G (p.Asn259Ser)
NM_000528.4(MAN2B1):c.777T>G (p.Asn259Lys)
NM_000528.4(MAN2B1):c.779G>T (p.Gly260Val)
NM_000528.4(MAN2B1):c.784_786del (p.Asn262del) rs1555709511
NM_000528.4(MAN2B1):c.787C>T (p.Pro263Ser)
NM_000528.4(MAN2B1):c.7G>A (p.Ala3Thr)
NM_000528.4(MAN2B1):c.836T>C (p.Val279Ala)
NM_000528.4(MAN2B1):c.838G>A (p.Glu280Lys)
NM_000528.4(MAN2B1):c.847C>T (p.Arg283Cys)
NM_000528.4(MAN2B1):c.848G>A (p.Arg283His)
NM_000528.4(MAN2B1):c.880G>A (p.Asp294Asn) rs973412688
NM_000528.4(MAN2B1):c.894T>G (p.Asn298Lys)
NM_000528.4(MAN2B1):c.899C>T (p.Ala300Val)
NM_000528.4(MAN2B1):c.8C>T (p.Ala3Val)
NM_000528.4(MAN2B1):c.901A>G (p.Thr301Ala)
NM_000528.4(MAN2B1):c.904G>T (p.Ala302Ser)
NM_000528.4(MAN2B1):c.905C>T (p.Ala302Val)
NM_000528.4(MAN2B1):c.910G>A (p.Gly304Ser) rs2024102051
NM_000528.4(MAN2B1):c.913C>T (p.Arg305Trp) rs202100368
NM_000528.4(MAN2B1):c.923G>A (p.Arg308His)
NM_000528.4(MAN2B1):c.92C>T (p.Pro31Leu)
NM_000528.4(MAN2B1):c.940A>T (p.Met314Leu)
NM_000528.4(MAN2B1):c.955G>C (p.Asp319His) rs1251243232
NM_000528.4(MAN2B1):c.956A>G (p.Asp319Gly) rs1222864490
NM_000528.4(MAN2B1):c.981G>T (p.Met327Ile) rs2145272922
NM_000528.4(MAN2B1):c.997G>C (p.Asp333His)
NM_000545.8(HNF1A):c.1012G>A (p.Gly338Ser)
NM_000545.8(HNF1A):c.1060A>G (p.Thr354Ala) rs1877098583
NM_000545.8(HNF1A):c.1135C>A (p.Pro379Thr) rs754729248
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.8(HNF1A):c.1235T>C (p.Met412Thr) rs747433197
NM_000545.8(HNF1A):c.1380_1406del (p.Gln460_Leu468del) rs544842497
NM_000545.8(HNF1A):c.1424C>T (p.Pro475Leu) rs193922580
NM_000545.8(HNF1A):c.1524G>T (p.Glu508Asp) rs1877291173
NM_000545.8(HNF1A):c.1544_1545delinsGA (p.Thr515Arg)
NM_000545.8(HNF1A):c.155_156delinsCT (p.Gly52Ala) rs587778393
NM_000545.8(HNF1A):c.1594G>A (p.Ala532Thr) rs1421619915
NM_000545.8(HNF1A):c.1610C>T (p.Thr537Met) rs372624970
NM_000545.8(HNF1A):c.1623+3A>G rs886038347
NM_000545.8(HNF1A):c.1623G>C (p.Gln541His)
NM_000545.8(HNF1A):c.1687A>G (p.Thr563Ala) rs1877313665
NM_000545.8(HNF1A):c.1727A>C (p.Gln576Pro) rs1877318918
NM_000545.8(HNF1A):c.1731C>A (p.His577Gln) rs1877319456
NM_000545.8(HNF1A):c.1733del (p.Leu578fs) rs1592898227
NM_000545.8(HNF1A):c.1747C>G (p.Arg583Gly) rs137853239
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
NM_000545.8(HNF1A):c.1825C>T (p.His609Tyr) rs2135854619
NM_000545.8(HNF1A):c.1854C>G (p.Ile618Met) rs193922591
NM_000545.8(HNF1A):c.1869del (p.Thr624fs)
NM_000545.8(HNF1A):c.205G>A (p.Gly69Ser)
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu) rs193922593
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
NM_000545.8(HNF1A):c.355G>A (p.Val119Ile) rs1179591039
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
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
NM_024989.4(PGAP1):c.2614G>A (p.Val872Ile)
NM_024989.4(PGAP1):c.2690T>C (p.Phe897Ser) rs1559326086
NM_024989.4(PGAP1):c.2743C>T (p.Leu915Phe)
NM_024989.4(PGAP1):c.2764A>G (p.Met922Val)
NM_024989.4(PGAP1):c.301+5G>A
NM_024989.4(PGAP1):c.31C>G (p.Leu11Val) rs375123215
NM_024989.4(PGAP1):c.334G>T (p.Ala112Ser)
NM_024989.4(PGAP1):c.339G>C (p.Glu113Asp) rs1457240197
NM_024989.4(PGAP1):c.34G>T (p.Ala12Ser) rs1703369332
NM_024989.4(PGAP1):c.386A>G (p.Asn129Ser)
NM_024989.4(PGAP1):c.416G>A (p.Ser139Asn)
NM_024989.4(PGAP1):c.43G>A (p.Val15Ile)
NM_024989.4(PGAP1):c.442C>T (p.His148Tyr) rs1364134988
NM_024989.4(PGAP1):c.497A>G (p.Lys166Arg)
NM_024989.4(PGAP1):c.502G>A (p.Val168Met)
NM_024989.4(PGAP1):c.511A>G (p.Ile171Val)
NM_024989.4(PGAP1):c.525G>A (p.Met175Ile)
NM_024989.4(PGAP1):c.52G>A (p.Val18Ile)
NM_024989.4(PGAP1):c.583A>C (p.Asn195His)
NM_024989.4(PGAP1):c.709A>C (p.Thr237Pro)
NM_024989.4(PGAP1):c.734G>A (p.Arg245Gln)
NM_024989.4(PGAP1):c.749G>A (p.Arg250His)
NM_024989.4(PGAP1):c.749G>C (p.Arg250Pro)
NM_024989.4(PGAP1):c.790A>G (p.Ser264Gly)
NM_024989.4(PGAP1):c.807+5T>C
NM_024989.4(PGAP1):c.808-7_808-3del rs570708925
NM_024989.4(PGAP1):c.82G>A (p.Val28Ile)
NM_024989.4(PGAP1):c.857T>C (p.Val286Ala)
NM_024989.4(PGAP1):c.892G>A (p.Ala298Thr) rs1385705047
NM_024989.4(PGAP1):c.908T>C (p.Ile303Thr)
NM_024989.4(PGAP1):c.911A>T (p.Asp304Val) rs1323722383
NM_024989.4(PGAP1):c.91G>A (p.Gly31Ser)
NM_030805.4(LMAN2L):c.424+11C>T rs2078470068
NM_030805.4(LMAN2L):c.46C>A (p.Arg16=) rs1028008100
NM_030805.4(LMAN2L):c.776A>T (p.Asp259Val) rs2077918865
NM_031229.4(RBCK1):c.1016G>A (p.Arg339Lys) rs2122282675
NM_031229.4(RBCK1):c.1049A>G (p.Tyr350Cys)
NM_031229.4(RBCK1):c.1069G>A (p.Gly357Ser) rs2122324503
NM_031229.4(RBCK1):c.1094G>T (p.Ser365Ile)
NM_031229.4(RBCK1):c.1129_1130delinsCT (p.Lys377Leu)
NM_031229.4(RBCK1):c.1153G>T (p.Asp385Tyr)
NM_031229.4(RBCK1):c.1164G>C (p.Glu388Asp)
NM_031229.4(RBCK1):c.1209+6G>T
NM_031229.4(RBCK1):c.1238A>G (p.Glu413Gly)
NM_031229.4(RBCK1):c.1276G>A (p.Val426Met) rs763071132
NM_031229.4(RBCK1):c.1286G>A (p.Arg429Gln)
NM_031229.4(RBCK1):c.1292C>T (p.Thr431Met)
NM_031229.4(RBCK1):c.1302G>T (p.Met434Ile) rs1600315243
NM_031229.4(RBCK1):c.1309-9C>T
NM_031229.4(RBCK1):c.1309G>A (p.Val437Met)
NM_031229.4(RBCK1):c.1357G>A (p.Val453Met)
NM_031229.4(RBCK1):c.1368G>T (p.Lys456Asn)
NM_031229.4(RBCK1):c.1369A>G (p.Lys457Glu)
NM_031229.4(RBCK1):c.1384T>C (p.Trp462Arg)
NM_031229.4(RBCK1):c.1390C>G (p.Arg464Gly)
NM_031229.4(RBCK1):c.1408A>G (p.Thr470Ala)
NM_031229.4(RBCK1):c.1430A>G (p.Lys477Arg)
NM_031229.4(RBCK1):c.143A>C (p.Glu48Ala) rs756720324
NM_031229.4(RBCK1):c.1452+6T>C rs2122339130
NM_031229.4(RBCK1):c.146T>C (p.Val49Ala) rs2015609266
NM_031229.4(RBCK1):c.1495G>A (p.Gly499Arg) rs2016958362
NM_031229.4(RBCK1):c.149C>T (p.Ser50Phe)
NM_031229.4(RBCK1):c.1514G>A (p.Ser505Asn)
NM_031229.4(RBCK1):c.167+3G>A rs2015610951
NM_031229.4(RBCK1):c.185A>T (p.Glu62Val) rs1568554230
NM_031229.4(RBCK1):c.19A>G (p.Lys7Glu)
NM_031229.4(RBCK1):c.205G>A (p.Val69Ile) rs778362577
NM_031229.4(RBCK1):c.205G>C (p.Val69Leu) rs778362577
NM_031229.4(RBCK1):c.209C>T (p.Thr70Ile)
NM_031229.4(RBCK1):c.227G>A (p.Arg76His)
NM_031229.4(RBCK1):c.227G>C (p.Arg76Pro) rs772407882
NM_031229.4(RBCK1):c.242T>C (p.Val81Ala) rs778228682
NM_031229.4(RBCK1):c.261+6_261+9del rs754865819
NM_031229.4(RBCK1):c.262-4C>G
NM_031229.4(RBCK1):c.290T>C (p.Val97Ala)
NM_031229.4(RBCK1):c.290T>G (p.Val97Gly) rs764728866
NM_031229.4(RBCK1):c.317G>A (p.Arg106Gln) rs752153553
NM_031229.4(RBCK1):c.359G>A (p.Arg120Gln)
NM_031229.4(RBCK1):c.412C>T (p.Leu138Phe)
NM_031229.4(RBCK1):c.419C>T (p.Pro140Leu) rs2122228193
NM_031229.4(RBCK1):c.41G>A (p.Ser14Asn) rs1471676178
NM_031229.4(RBCK1):c.434G>T (p.Arg145Leu)
NM_031229.4(RBCK1):c.436G>A (p.Glu146Lys) rs1555785275
NM_031229.4(RBCK1):c.459A>G (p.Glu153=)
NM_031229.4(RBCK1):c.463C>A (p.Leu155Met) rs2016220877
NM_031229.4(RBCK1):c.481A>G (p.Thr161Ala) rs2016222055
NM_031229.4(RBCK1):c.496G>T (p.Gly166Cys) rs2122242440
NM_031229.4(RBCK1):c.508C>A (p.Pro170Thr)
NM_031229.4(RBCK1):c.530T>C (p.Val177Ala) rs766968693
NM_031229.4(RBCK1):c.571G>A (p.Glu191Lys)
NM_031229.4(RBCK1):c.577C>T (p.Pro193Ser)
NM_031229.4(RBCK1):c.601G>T (p.Gly201Trp)
NM_031229.4(RBCK1):c.653G>T (p.Arg218Leu) rs764357407
NM_031229.4(RBCK1):c.656C>T (p.Ala219Val)
NM_031229.4(RBCK1):c.658C>T (p.Arg220Cys)
NM_031229.4(RBCK1):c.695_742dup (p.Pro232_Leu247dup) rs2016250689
NM_031229.4(RBCK1):c.697G>A (p.Asp233Asn) rs1056596650
NM_031229.4(RBCK1):c.697G>C (p.Asp233His)
NM_031229.4(RBCK1):c.700G>C (p.Glu234Gln) rs756811010
NM_031229.4(RBCK1):c.700GAG[4] (p.Glu236dup) rs2016252024
NM_031229.4(RBCK1):c.704A>G (p.Glu235Gly) rs2122246121
NM_031229.4(RBCK1):c.710G>A (p.Arg237Gln) rs770302308
NM_031229.4(RBCK1):c.732G>T (p.Glu244Asp)
NM_031229.4(RBCK1):c.742C>A (p.Arg248Ser) rs993862197
NM_031229.4(RBCK1):c.754C>A (p.Gln252Lys) rs2016261661
NM_031229.4(RBCK1):c.757-10G>A rs1472775469
NM_031229.4(RBCK1):c.757C>T (p.Arg253Trp) rs867822612
NM_031229.4(RBCK1):c.758G>C (p.Arg253Pro)
NM_031229.4(RBCK1):c.760A>G (p.Lys254Glu) rs2016380869
NM_031229.4(RBCK1):c.763CAG[3] (p.Gln258del) rs770767944
NM_031229.4(RBCK1):c.763CAG[5] (p.Gln258_Glu259insGln)
NM_031229.4(RBCK1):c.765G>C (p.Gln255His) rs1167649288
NM_031229.4(RBCK1):c.770A>G (p.Gln257Arg) rs755744736
NM_031229.4(RBCK1):c.770A>T (p.Gln257Leu)
NM_031229.4(RBCK1):c.795C>G (p.His265Gln) rs1001816526
NM_031229.4(RBCK1):c.812G>A (p.Arg271Lys)
NM_031229.4(RBCK1):c.832G>C (p.Glu278Gln)
NM_031229.4(RBCK1):c.836C>A (p.Pro279His) rs778259648
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)
NM_031229.4(RBCK1):c.875G>T (p.Gly292Val)
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)
NM_031229.4(RBCK1):c.976A>G (p.Ile326Val)
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)
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)
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)
NM_033159.4(HYAL1):c.1204G>C (p.Gly402Arg)
NM_033159.4(HYAL1):c.1231C>T (p.Gln411Ter)
NM_033159.4(HYAL1):c.1264C>A (p.Pro422Thr)
NM_033159.4(HYAL1):c.1267G>A (p.Gly423Ser)
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

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