NM_000152.5(GAA):c.2040+20A>G
|
rs2304836
|
0.72004
|
NM_000289.6(PFKM):c.2334T>G (p.Ala778=)
|
rs8716
|
0.28514
|
NM_001166686.2(PFKM):c.5A>T (p.His2Leu)
|
rs11609399
|
0.21767
|
NM_000289.6(PFKM):c.516C>T (p.Thr172=)
|
rs1049392
|
0.18973
|
NM_000289.6(PFKM):c.2093-14A>G
|
rs11168427
|
0.16418
|
NM_000289.6(PFKM):c.299G>A (p.Arg100Gln)
|
rs2228500
|
0.16379
|
NM_000175.5(GPI):c.489A>G (p.Gly163=)
|
rs1801015
|
0.14862
|
NM_001365304.2(LOC112694756):c.*1508+17G>T
|
rs2071390
|
0.13976
|
NM_005609.4(PYGM):c.1827+7A>G
|
rs532747
|
0.10554
|
NM_001159287.1(TPI1):c.69A>G (p.Arg23=)
|
rs1800200
|
0.09809
|
NM_000175.5(GPI):c.762G>A (p.Lys254=)
|
rs1864139
|
0.09803
|
NM_001370658.1(BTD):c.1353T>C (p.Cys451=)
|
rs3817641
|
0.08986
|
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys)
|
rs16945474
|
0.07291
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_000152.5(GAA):c.1754+12G>A
|
rs2304840
|
0.06396
|
NM_000289.6(PFKM):c.246G>A (p.Thr82=)
|
rs2228501
|
0.06196
|
NM_000155.4(GALT):c.378-27G>C
|
rs41274865
|
0.04615
|
NM_000155.4(GALT):c.508-24G>A
|
rs41274867
|
0.04612
|
NM_000155.4(GALT):c.507+62G>A
|
rs2277202
|
0.04610
|
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg)
|
rs11553595
|
0.04510
|
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly)
|
rs34745339
|
0.04350
|
NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)
|
rs1800309
|
0.04051
|
NM_001159287.1(TPI1):c.66G>A (p.Pro22=)
|
rs1800201
|
0.03488
|
NM_000155.4(GALT):c.945T>C (p.His315=)
|
rs61735982
|
0.03311
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000155.4(GALT):c.876G>A (p.Thr292=)
|
rs1055607
|
0.02790
|
NM_053013.4(ENO3):c.1236-17C>T
|
rs77614413
|
0.02756
|
NM_053013.4(ENO3):c.240+17G>A
|
rs75279666
|
0.02755
|
NM_002294.3(LAMP2):c.927C>T (p.Ser309=)
|
rs73219144
|
0.02702
|
NM_000108.5(DLD):c.685-14T>A
|
rs80111449
|
0.02691
|
NM_000365.6(TPI1):c.544-10C>G
|
rs115061797
|
0.02638
|
NM_001807.6(CEL):c.1454T>C (p.Ile485Thr)
|
rs77696629
|
0.02562
|
NM_021957.4(GYS2):c.2067C>T (p.His689=)
|
rs7954038
|
0.02548
|
NM_021957.4(GYS2):c.1464A>G (p.Leu488=)
|
rs35403985
|
0.02543
|
NM_000155.4(GALT):c.652C>T (p.Leu218=)
|
rs2070075
|
0.02537
|
NM_000030.3(AGXT):c.883G>A (p.Ala295Thr)
|
rs13408961
|
0.02475
|
NM_000365.6(TPI1):c.631+13G>A
|
rs60115912
|
0.02344
|
NM_000152.5(GAA):c.271G>A (p.Asp91Asn)
|
rs1800299
|
0.02215
|
NM_021957.4(GYS2):c.1245C>G (p.Asp415Glu)
|
rs16924002
|
0.02117
|
NM_000175.5(GPI):c.122+20G>A
|
rs8191360
|
0.02067
|
NM_001715.3(BLK):c.258G>A (p.Gln86=)
|
rs56185487
|
0.02041
|
NM_000289.6(PFKM):c.1500+32C>T
|
rs41291967
|
0.02028
|
NM_000289.6(PFKM):c.1342-14G>T
|
rs56117548
|
0.01990
|
NM_000289.6(PFKM):c.306C>T (p.Ala102=)
|
rs11552507
|
0.01954
|
NM_003477.3(PDHX):c.531C>T (p.Pro177=)
|
rs76486106
|
0.01781
|
NM_005609.4(PYGM):c.1184C>T (p.Thr395Met)
|
rs71581787
|
0.01778
|
NM_003477.3(PDHX):c.438C>T (p.Asp146=)
|
rs75182779
|
0.01749
|
NM_002863.5(PYGL):c.2534A>G (p.Asn845Ser)
|
rs78558135
|
0.01732
|
NM_001807.6(CEL):c.353T>G (p.Leu118Arg)
|
rs113056079
|
0.01720
|
NM_001715.3(BLK):c.435C>T (p.Ala145=)
|
rs7836533
|
0.01672
|
NM_053013.4(ENO3):c.1235+3A>G
|
rs73973669
|
0.01622
|
NM_021957.4(GYS2):c.1636A>G (p.Thr546Ala)
|
rs61733199
|
0.01511
|
NM_000175.5(GPI):c.948C>A (p.Ala316=)
|
rs8191416
|
0.01510
|
NM_001715.3(BLK):c.211G>A (p.Ala71Thr)
|
rs55758736
|
0.01485
|
NM_000175.5(GPI):c.623T>C (p.Ile208Thr)
|
rs8191371
|
0.01437
|
NM_002103.5(GYS1):c.693G>A (p.Lys231=)
|
rs5460
|
0.01434
|
NM_002294.3(LAMP2):c.*2746A>G
|
rs3827478
|
0.01396
|
NM_000293.3(PHKB):c.318T>C (p.Asp106=)
|
rs17738933
|
0.01382
|
NM_003597.5(KLF11):c.659C>T (p.Thr220Met)
|
rs34336420
|
0.01310
|
NM_002103.5(GYS1):c.420A>G (p.Gly140=)
|
rs5458
|
0.01301
|
NM_002863.5(PYGL):c.1621-6T>C
|
rs74539788
|
0.01217
|
NM_005609.4(PYGM):c.1569C>G (p.Leu523=)
|
rs114138772
|
0.01217
|
NM_002863.5(PYGL):c.2416A>T (p.Ile806Leu)
|
rs34313873
|
0.01205
|
NM_000365.6(TPI1):c.544-14G>A
|
rs72661109
|
0.01198
|
NM_001040716.2(PC):c.2619C>T (p.Asn873=)
|
rs2229745
|
0.01182
|
NM_012096.3(APPL1):c.69A>G (p.Leu23=)
|
rs11544592
|
0.01160
|
NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
|
rs41291971
|
0.01088
|
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=)
|
rs77290575
|
0.01088
|
NM_012096.3(APPL1):c.1002C>G (p.Asp334Glu)
|
rs61735096
|
0.01069
|
NM_000152.5(GAA):c.1075+13C>T
|
rs41292402
|
0.01065
|
NM_006721.4(ADK):c.726+11T>G
|
rs45529443
|
0.01033
|
NM_000293.3(PHKB):c.555G>T (p.Met185Ile)
|
rs56257827
|
0.01025
|
NM_000108.5(DLD):c.249T>C (p.Val83=)
|
rs2228664
|
0.00985
|
NM_053013.4(ENO3):c.994G>A (p.Val332Ile)
|
rs61735456
|
0.00983
|
NM_031229.4(RBCK1):c.757-15G>C
|
rs200457271
|
0.00970
|
NM_000293.3(PHKB):c.870+17T>C
|
rs75918606
|
0.00923
|
NM_000108.5(DLD):c.1422A>C (p.Gly474=)
|
rs34453495
|
0.00918
|
NM_002863.5(PYGL):c.962G>A (p.Arg321His)
|
rs116465563
|
0.00878
|
NM_006721.4(ADK):c.195-18A>G
|
rs144492760
|
0.00844
|
NM_001365304.2(LOC112694756):c.*889-16C>A
|
rs78124282
|
0.00797
|
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp)
|
rs12918964
|
0.00765
|
NM_000152.5(GAA):c.2400C>T (p.Ser800=)
|
rs115705591
|
0.00724
|
NM_002103.5(GYS1):c.1545A>G (p.Thr515=)
|
rs5448
|
0.00719
|
NM_003477.3(PDHX):c.957G>A (p.Leu319=)
|
rs36047324
|
0.00717
|
NM_005609.4(PYGM):c.1092+6dup
|
rs368602234
|
0.00700
|
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln)
|
rs61757217
|
0.00689
|
NM_001370658.1(BTD):c.585C>T (p.Leu195=)
|
rs145388314
|
0.00669
|
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser)
|
rs1800307
|
0.00653
|
NM_001715.3(BLK):c.472+12G>A
|
rs145058498
|
0.00652
|
NM_000152.5(GAA):c.852G>A (p.Ala284=)
|
rs142626724
|
0.00638
|
NM_003477.3(PDHX):c.976G>C (p.Val326Leu)
|
rs35560997
|
0.00574
|
NM_021957.4(GYS2):c.1872A>G (p.Glu624=)
|
rs142883971
|
0.00562
|
NM_002863.5(PYGL):c.176C>T (p.Thr59Met)
|
rs150483902
|
0.00507
|
NM_012096.3(APPL1):c.256T>C (p.Leu86=)
|
rs147166062
|
0.00501
|
NM_000152.5(GAA):c.546+18G>A
|
rs190153982
|
0.00474
|
NM_000108.5(DLD):c.543A>T (p.Ile181=)
|
rs61749952
|
0.00461
|
NM_000152.5(GAA):c.2580C>T (p.Asp860=)
|
rs61736894
|
0.00459
|
NM_000365.6(TPI1):c.600G>A (p.Ala200=)
|
rs61747602
|
0.00452
|
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)
|
rs113806080
|
0.00446
|
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
|
rs35026927
|
0.00435
|
NM_000155.4(GALT):c.879C>T (p.Ser293=)
|
rs115527942
|
0.00407
|
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys)
|
rs151155518
|
0.00406
|
NM_021957.4(GYS2):c.2054T>C (p.Phe685Ser)
|
rs117474773
|
0.00404
|
NM_001040716.2(PC):c.85G>A (p.Val29Ile)
|
rs45471099
|
0.00394
|
NM_001807.6(CEL):c.402C>G (p.Gly134=)
|
rs150358550
|
0.00392
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_002637.4(PHKA1):c.492C>T (p.Phe164=)
|
rs149354112
|
0.00383
|
NM_000152.5(GAA):c.447G>A (p.Thr149=)
|
rs2289536
|
0.00362
|
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=)
|
rs76767223
|
0.00362
|
NM_031229.4(RBCK1):c.756+3G>A
|
rs146804136
|
0.00350
|
NM_002863.5(PYGL):c.424+6T>A
|
rs146741789
|
0.00346
|
NM_000294.3(PHKG2):c.96-10G>T
|
rs74015042
|
0.00340
|
NM_001159287.1(TPI1):c.50T>G (p.Ile17Arg)
|
rs1800202
|
0.00329
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_000152.5(GAA):c.2571G>T (p.Leu857=)
|
rs17853996
|
0.00319
|
NM_002103.5(GYS1):c.555C>T (p.Gly185=)
|
rs2229612
|
0.00314
|
NM_000035.4(ALDOB):c.156T>G (p.Thr52=)
|
rs149671008
|
0.00302
|
NM_001715.3(BLK):c.713G>A (p.Arg238Gln)
|
rs141865425
|
0.00300
|
NM_000152.5(GAA):c.1552-13G>A
|
rs111261964
|
0.00276
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_000152.5(GAA):c.2481+16G>A
|
rs41292408
|
0.00252
|
NM_000289.6(PFKM):c.1338G>A (p.Gly446=)
|
rs150378513
|
0.00243
|
NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys)
|
rs145040928
|
0.00243
|
NM_001715.3(BLK):c.674C>T (p.Pro225Leu)
|
rs144592409
|
0.00230
|
NM_000152.5(GAA):c.2647-8C>T
|
rs139201641
|
0.00216
|
NM_000289.6(PFKM):c.2199-12A>G
|
rs202008060
|
0.00204
|
NM_001365304.2(LOC112694756):c.*621+4C>T
|
rs200278984
|
0.00204
|
NM_000175.5(GPI):c.907A>C (p.Met303Leu)
|
rs143733383
|
0.00202
|
NM_001159287.1(TPI1):c.31C>T (p.His11Tyr)
|
rs781949460
|
0.00200
|
NM_000152.5(GAA):c.676C>G (p.Leu226Val)
|
rs113085339
|
0.00193
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_002103.5(GYS1):c.300+8G>A
|
rs5454
|
0.00187
|
NM_000289.6(PFKM):c.702A>T (p.Pro234=)
|
rs138022863
|
0.00185
|
NM_000289.6(PFKM):c.1500+29C>T
|
rs138256599
|
0.00183
|
NM_000152.5(GAA):c.2332-12A>T
|
rs200965268
|
0.00178
|
NM_053013.4(ENO3):c.86-10C>T
|
rs201571802
|
0.00174
|
NM_000152.5(GAA):c.258C>A (p.Pro86=)
|
rs146615896
|
0.00170
|
NM_005609.4(PYGM):c.1237A>T (p.Asn413Tyr)
|
rs142054672
|
0.00157
|
NM_000152.5(GAA):c.692+17G>C
|
rs199559553
|
0.00147
|
NM_000291.4(PGK1):c.171G>A (p.Ser57=)
|
rs78165041
|
0.00145
|
NM_000152.5(GAA):c.1352C>G (p.Pro451Arg)
|
rs7215458
|
0.00140
|
NM_001184722.1(GPI):c.7G>A (p.Ala3Thr)
|
rs549433538
|
0.00139
|
NM_001040716.2(PC):c.616G>T (p.Val206Leu)
|
rs147945506
|
0.00126
|
NM_001243177.4(ALDOA):c.648C>G (p.Leu216=)
|
rs112110009
|
0.00124
|
NM_000175.5(GPI):c.987C>T (p.Asn329=)
|
rs140676743
|
0.00123
|
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser)
|
rs141541387
|
0.00119
|
NM_000152.5(GAA):c.1830C>T (p.Ala610=)
|
rs61736896
|
0.00118
|
NM_000293.3(PHKB):c.1459-9G>T
|
rs201995780
|
0.00117
|
NM_000152.5(GAA):c.915G>A (p.Gly305=)
|
rs150343359
|
0.00113
|
NM_006721.4(ADK):c.1088G>A (p.Ter363=)
|
rs148819558
|
0.00108
|
NM_000365.6(TPI1):c.321T>C (p.Asp107=)
|
rs141972556
|
0.00104
|
NM_000152.5(GAA):c.726G>A (p.Ala242=)
|
rs148578399
|
0.00101
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_000365.6(TPI1):c.366C>T (p.Leu122=)
|
rs138131191
|
0.00081
|
NM_000291.4(PGK1):c.1048C>T (p.Arg350Trp)
|
rs183087139
|
0.00076
|
NM_001807.6(CEL):c.554G>A (p.Arg185Gln)
|
rs141665160
|
0.00076
|
NM_000365.6(TPI1):c.448G>T (p.Val150Phe)
|
rs150585849
|
0.00067
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr)
|
rs145712232
|
0.00057
|
NM_001370658.1(BTD):c.252T>C (p.Asp84=)
|
rs138545268
|
0.00056
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_002863.5(PYGL):c.30G>A (p.Lys10=)
|
rs140912135
|
0.00046
|
NM_005609.4(PYGM):c.160T>G (p.Phe54Val)
|
rs148839812
|
0.00046
|
NM_017721.5(CC2D1A):c.1345G>A (p.Val449Met)
|
rs199644216
|
0.00043
|
NM_000152.5(GAA):c.1754+11C>T
|
rs371644603
|
0.00034
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln)
|
rs550455609
|
0.00032
|
NM_000175.5(GPI):c.317G>A (p.Arg106Gln)
|
rs143827313
|
0.00029
|
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg)
|
rs753397854
|
0.00029
|
NM_005609.4(PYGM):c.612C>T (p.Tyr204=)
|
rs200467937
|
0.00025
|
NM_000152.5(GAA):c.1019A>G (p.Tyr340Cys)
|
rs144857480
|
0.00024
|
NM_000152.5(GAA):c.1310G>A (p.Arg437His)
|
rs150868652
|
0.00023
|
NM_000175.5(GPI):c.1497C>T (p.Phe499=)
|
rs138799755
|
0.00023
|
NM_001243177.4(ALDOA):c.973C>T (p.Leu325=)
|
rs111252736
|
0.00022
|
NM_000289.6(PFKM):c.459C>T (p.Ser153=)
|
rs145519821
|
0.00021
|
NM_001040716.2(PC):c.1446C>T (p.Asp482=)
|
rs145891535
|
0.00021
|
NM_000289.6(PFKM):c.52A>G (p.Ile18Val)
|
rs150405056
|
0.00020
|
NM_000152.5(GAA):c.2156C>A (p.Ala719Glu)
|
rs146762316
|
0.00019
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
NM_000365.6(TPI1):c.116-12T>C
|
rs369077745
|
0.00019
|
NM_002103.5(GYS1):c.207G>A (p.Thr69=)
|
rs540438011
|
0.00019
|
NM_000175.5(GPI):c.1270-9G>A
|
rs191051353
|
0.00018
|
NM_002103.5(GYS1):c.1512C>T (p.Val504=)
|
rs201028159
|
0.00018
|
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)
|
rs111033773
|
0.00017
|
NM_000289.6(PFKM):c.139C>T (p.Arg47Cys)
|
rs774921979
|
0.00012
|
NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser)
|
rs141550921
|
0.00011
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_000365.6(TPI1):c.-11G>A
|
rs199634350
|
0.00010
|
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)
|
rs104893688
|
0.00010
|
NM_000152.5(GAA):c.1630G>A (p.Val544Met)
|
rs567695610
|
0.00009
|
NM_000152.5(GAA):c.1194+3G>C
|
rs368539333
|
0.00008
|
NM_000152.5(GAA):c.1552-3C>G
|
rs375470378
|
0.00008
|
NM_000289.6(PFKM):c.1501-15C>T
|
rs756212415
|
0.00008
|
NM_000291.4(PGK1):c.846G>C (p.Leu282Phe)
|
rs782668224
|
0.00007
|
NM_001370658.1(BTD):c.566G>A (p.Arg189His)
|
rs398123139
|
0.00007
|
NM_000152.5(GAA):c.1356C>T (p.Ala452=)
|
rs757893858
|
0.00006
|
NM_000152.5(GAA):c.1725C>T (p.Tyr575=)
|
rs112517802
|
0.00006
|
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)
|
rs111033728
|
0.00006
|
NM_000175.5(GPI):c.1325C>T (p.Thr442Met)
|
rs758328180
|
0.00006
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
NM_000289.6(PFKM):c.857G>A (p.Arg286His)
|
rs768496070
|
0.00006
|
NM_000289.6(PFKM):c.1212T>C (p.Ala404=)
|
rs1203272613
|
0.00005
|
NM_000155.4(GALT):c.512T>C (p.Phe171Ser)
|
rs111033715
|
0.00004
|
NM_000175.5(GPI):c.1039C>T (p.Arg347Cys)
|
rs758132799
|
0.00004
|
NM_000175.5(GPI):c.286C>T (p.Arg96Ter)
|
rs781245249
|
0.00004
|
NM_000289.6(PFKM):c.1063-18G>A
|
rs531023136
|
0.00004
|
NM_000365.6(TPI1):c.690C>T (p.Phe230=)
|
rs782267337
|
0.00004
|
NM_001370658.1(BTD):c.873del (p.Ser291fs)
|
rs397514395
|
0.00004
|
NM_001715.3(BLK):c.672C>T (p.Ala224=)
|
rs201252364
|
0.00004
|
NM_005609.4(PYGM):c.1353C>T (p.His451=)
|
rs377599118
|
0.00004
|
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)
|
rs111033814
|
0.00003
|
NM_000155.4(GALT):c.292G>A (p.Asp98Asn)
|
rs111033670
|
0.00003
|
NM_000155.4(GALT):c.442C>T (p.Arg148Trp)
|
rs111033693
|
0.00003
|
NM_000155.4(GALT):c.602G>A (p.Arg201His)
|
rs111033735
|
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_000291.4(PGK1):c.892A>G (p.Thr298Ala)
|
rs782119990
|
0.00003
|
NM_000152.5(GAA):c.2668G>C (p.Val890Leu)
|
rs377286472
|
0.00002
|
NM_000155.4(GALT):c.233C>T (p.Ala78Val)
|
rs981018740
|
0.00002
|
NM_000365.6(TPI1):c.543+5C>G
|
rs782153322
|
0.00002
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
NM_001370658.1(BTD):c.635T>G (p.Phe212Cys)
|
rs768097543
|
0.00002
|
NM_000152.5(GAA):c.1799G>A (p.Arg600His)
|
rs377544304
|
0.00001
|
NM_000152.5(GAA):c.547-41G>C
|
rs753870549
|
0.00001
|
NM_000155.4(GALT):c.241G>C (p.Ala81Pro)
|
rs111033665
|
0.00001
|
NM_000155.4(GALT):c.752A>C (p.Tyr251Ser)
|
rs111033755
|
0.00001
|
NM_000155.4(GALT):c.753C>T (p.Tyr251=)
|
rs367543261
|
0.00001
|
NM_000155.4(GALT):c.961C>T (p.His321Tyr)
|
rs367543266
|
0.00001
|
NM_000175.5(GPI):c.1009G>A (p.Ala337Thr)
|
rs1238884216
|
0.00001
|
NM_000175.5(GPI):c.572A>G (p.His191Arg)
|
rs758281551
|
0.00001
|
NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr)
|
rs373055147
|
0.00001
|
NM_000289.6(PFKM):c.888G>A (p.Leu296=)
|
rs753083173
|
0.00001
|
NM_000291.4(PGK1):c.320C>T (p.Ala107Val)
|
rs1569550806
|
0.00001
|
NM_000291.4(PGK1):c.872A>G (p.Lys291Arg)
|
rs1187663822
|
0.00001
|
NM_001243177.4(ALDOA):c.322G>A (p.Glu108Lys)
|
rs199852002
|
0.00001
|
NM_001354741.2(PFKM):c.-81+1955A>G
|
rs755094329
|
0.00001
|
NM_001370658.1(BTD):c.1473G>C (p.Gln491His)
|
rs764375610
|
0.00001
|
NM_001370658.1(BTD):c.425C>T (p.Ala142Val)
|
rs397514364
|
0.00001
|
NM_001370658.1(BTD):c.674G>A (p.Cys225Tyr)
|
rs397507175
|
0.00001
|
NM_001370658.1(BTD):c.683T>C (p.Ile228Thr)
|
rs397514382
|
0.00001
|
NM_000152.5(GAA):c.1438-1G>T
|
rs147804176
|
|
NM_000152.5(GAA):c.1649G>T (p.Gly550Val)
|
rs2039246464
|
|
NM_000152.5(GAA):c.1841C>A (p.Thr614Lys)
|
rs369531647
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000152.5(GAA):c.858+17_858+23del
|
rs1555599723
|
|
NM_000152.5(GAA):c.858+6GCGGCGG[3]
|
rs1555599723
|
|
NM_000155.2(GALT):c.-119_-116delGTCA
|
rs111033640
|
|
NM_000155.4(GALT):c.1049C>A (p.Thr350Asn)
|
rs775317639
|
|
NM_000155.4(GALT):c.133T>C (p.Ser45Pro)
|
rs2132341560
|
|
NM_000155.4(GALT):c.290A>T (p.Asn97Ile)
|
rs111033669
|
|
NM_000155.4(GALT):c.291C>T (p.Asn97=)
|
rs398123180
|
|
NM_000155.4(GALT):c.302C>G (p.Ala101Gly)
|
|
|
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.508-17G>A
|
rs12000481
|
|
NM_000155.4(GALT):c.584T>G (p.Leu195Arg)
|
rs111033728
|
|
NM_000155.4(GALT):c.617A>G (p.Gln206Arg)
|
rs1587239309
|
|
NM_000155.4(GALT):c.752_753delinsCT (p.Tyr251Ser)
|
rs886043390
|
|
NM_000155.4(GALT):c.761dup (p.Leu255fs)
|
rs747036550
|
|
NM_000155.4(GALT):c.997C>T (p.Arg333Trp)
|
rs111033800
|
|
NM_000175.5(GPI):c.1040G>A (p.Arg347His)
|
rs137853583
|
|
NM_000175.5(GPI):c.1063-13G>C
|
|
|
NM_000175.5(GPI):c.1143G>C (p.Gly381=)
|
rs1214297048
|
|
NM_000175.5(GPI):c.1144G>T (p.Glu382Ter)
|
rs2074944986
|
|
NM_000175.5(GPI):c.1356G>C (p.Ala452=)
|
rs34604585
|
|
NM_000175.5(GPI):c.1366C>G (p.Pro456Ala)
|
|
|
NM_000175.5(GPI):c.16C>T (p.Arg6Trp)
|
|
|
NM_000175.5(GPI):c.241C>T (p.Arg81Trp)
|
|
|
NM_000175.5(GPI):c.487-14A>G
|
|
|
NM_000175.5(GPI):c.603C>G (p.Pro201=)
|
rs1062480
|
|
NM_000175.5(GPI):c.751-5del
|
rs375313737
|
|
NM_000175.5(GPI):c.751-5dup
|
rs375313737
|
|
NM_000289.6(PFKM):c.1043T>C (p.Leu348Pro)
|
rs1203659685
|
|
NM_000289.6(PFKM):c.1063-6C>A
|
rs371033104
|
|
NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln)
|
rs374824469
|
|
NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys)
|
rs1555206566
|
|
NM_000289.6(PFKM):c.1413-58C>A
|
rs78496902
|
|
NM_000289.6(PFKM):c.150T>C (p.Phe50=)
|
|
|
NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn)
|
|
|
NM_000289.6(PFKM):c.2003del (p.Pro668fs)
|
rs767095759
|
|
NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg)
|
rs1950977797
|
|
NM_000289.6(PFKM):c.550C>T (p.Arg184Trp)
|
|
|
NM_000291.4(PGK1):c.1152C>T (p.Asn384=)
|
|
|
NM_000291.4(PGK1):c.417+13A>T
|
|
|
NM_000291.4(PGK1):c.461T>C (p.Leu154Pro)
|
rs1557247556
|
|
NM_000291.4(PGK1):c.937-17dup
|
rs782576397
|
|
NM_000365.6(TPI1):c.-29C>G
|
rs181882616
|
|
NM_000365.6(TPI1):c.383T>C (p.Ile128Thr)
|
rs199881593
|
|
NM_000365.6(TPI1):c.457+7C>G
|
|
|
NM_000507.4(FBP1):c.651_653delinsTAA (p.Arg218Lys)
|
|
|
NM_001160372.4(TRAPPC9):c.1380G>T (p.Gln460His)
|
|
|
NM_001243177.4(ALDOA):c.1141G>A (p.Glu381Lys)
|
|
|
NM_001243177.4(ALDOA):c.684T>C (p.Tyr228=)
|
rs1596813728
|
|
NM_001243177.4(ALDOA):c.925A>G (p.Thr309Ala)
|
|
|
NM_001243177.4(ALDOA):c.966C>T (p.Ile322=)
|
|
|
NM_001354741.2(PFKM):c.-81+1966C>T
|
|
|
NM_001365304.2(LOC112694756):c.*1509-16C>T
|
|
|
NM_001365304.2(LOC112694756):c.*833+17C>G
|
rs78209292
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001715.3(BLK):c.1393T>C (p.Tyr465His)
|
|
|
NM_001715.3(BLK):c.391C>A (p.Arg131=)
|
rs73663163
|
|
NM_001715.3(BLK):c.39G>A (p.Lys13=)
|
rs142129056
|
|
NM_001715.3(BLK):c.772+17G>A
|
|
|
NM_001715.3(BLK):c.922A>G (p.Ile308Val)
|
|
|
NM_001807.6(CEL):c.203A>T (p.His68Leu)
|
|
|
NM_001807.6(CEL):c.526G>A (p.Ala176Thr)
|
|
|
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1]
|
rs193922648
|
|
NM_002863.5(PYGL):c.-31GCAGCCCGCCGC[1]
|
rs561479231
|
|
NM_002863.5(PYGL):c.1970-7C>G
|
|
|
NM_005609.4(PYGM):c.661-5C>G
|
rs75633423
|
|
NM_006618.5(KDM5B):c.2265C>G (p.Tyr755Ter)
|
|
|
NM_006618.5(KDM5B):c.712-4del
|
rs558975598
|
|
NM_012096.3(APPL1):c.374-9C>T
|
|
|
NM_012096.3(APPL1):c.824G>A (p.Arg275Gln)
|
|
|
NM_017721.5(CC2D1A):c.2342G>C (p.Gly781Ala)
|
rs77389229
|
|
NM_017721.5(CC2D1A):c.2405C>T (p.Thr802Met)
|
|
|
NM_053013.4(ENO3):c.789G>A (p.Ser263=)
|
rs75748087
|
|